Mutation.ID Gene.name Mutation.CDS Mutation.AA Mutation.Description Primary.site COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM29495 SMARCB1 c.1145delC p.P383fs*4 Deletion - Frameshift Central_nervous_system COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM72241 POGZ c.575G>A p.G192D Substitution - Missense Ovary COSM96531 IDH1 c.209G>A p.G70D Substitution - Missense Thyroid COSM118842 PRMT1 c.873G>A p.T291T Substitution - coding silent Stomach COSM133957 TRIM33 c.815G>A p.R272H Substitution - Missense Large_intestine COSM138405 MECOM c.515C>T p.S172L Substitution - Missense Breast COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Central_nervous_system COSM159176 ARID1B c.3390C>G p.Y1130* Substitution - Nonsense Breast COSM179734 SFMBT2 c.2098G>A p.V700M Substitution - Missense Stomach COSM184240 ARID1A c.2999C>A p.S1000Y Substitution - Missense Large_intestine COSM213693 MECOM c.1364T>A p.I455N Substitution - Missense Breast COSM222009 MECOM c.2926G>A p.D976N Substitution - Missense Skin COSM224079 BRWD1 c.4754G>A p.G1585D Substitution - Missense Skin COSM226478 TDRD5 c.1663G>A p.E555K Substitution - Missense Skin COSM245033 INO80B c.910C>A p.P304T Substitution - Missense Prostate COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Prostate COSM253092 RUVBL1 c.514-3delT p.? Unknown Skin COSM266482 EZH2 c.638G>A p.R213H Substitution - Missense Large_intestine COSM273283 SMYD3 c.1086C>T p.C362C Substitution - coding silent Large_intestine COSM308850 ACTL6A c.113C>G p.P38R Substitution - Missense Soft_tissue COSM319439 CHD8 c.1097A>T p.Q366L Substitution - Missense Lung COSM427635 ERCC6 c.2300G>A p.R767H Substitution - Missense Breast COSM430522 HNF1A c.79A>C p.I27L Substitution - Missense Soft_tissue COSM458811 JMJD1C c.6193C>T p.H2065Y Substitution - Missense Cervix COSM459482 KMT2D c.9756G>A p.Q3252Q Substitution - coding silent Cervix COSM465087 BRDT c.2530G>T p.E844* Substitution - Nonsense Kidney COSM975857 NCOR1 c.6705C>A p.I2235I Substitution - coding silent Endometrium COSM985956 SIRT7 c.1178G>A p.R393H Substitution - Missense Endometrium COSM693712 KMT2D c.13900C>T p.R4634* Substitution - Nonsense Lung COSM1048028 ATXN7 c.2238C>T p.Y746Y Substitution - coding silent Endometrium COSM941547 SMARCC2 c.2883A>G p.P961P Substitution - coding silent Endometrium COSM1027511 ZMYND8 c.3515G>A p.S1172N Substitution - Missense Endometrium COSM1021889 SMEK2 c.1689C>A p.I563I Substitution - coding silent Endometrium COSM729162 PHC3 c.2809G>T p.E937* Substitution - Nonsense Lung COSM913251 BRDT c.2819C>T p.T940I Substitution - Missense Endometrium COSM896951 ASH1L c.229G>T p.E77* Substitution - Nonsense Endometrium COSM1117721 HCFC1 c.4107C>T p.I1369I Substitution - coding silent Endometrium COSM1132080 CHD1 c.4877G>C p.R1626T Substitution - Missense Prostate COSM1251647 EZH2 c.512T>C p.F171S Substitution - Missense Stomach COSM1228400 TAF1 c.5527G>A p.V1843I Substitution - Missense Large_intestine COSM1252631 FMR1 c.1212G>T p.V404V Substitution - coding silent Oesophagus COSM1235811 SMARCA4 c.416C>T p.P139L Substitution - Missense Oesophagus COSM1211794 KDM5D c.476G>A p.R159H Substitution - Missense Large_intestine COSM1329892 STK31 c.2786A>G p.E929G Substitution - Missense Ovary COSM1324135 RAI1 c.840G>A p.Q280Q Substitution - coding silent Skin COSM1317469 ZMYND11 c.1076G>T p.R359L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1321196 KAT6B c.4963G>C p.V1655L Substitution - Missense Ovary COSM1404907 IDH1 c.103G>A p.V35M Substitution - Missense Large_intestine COSM1457703 CHD7 c.2959C>T p.R987* Substitution - Nonsense Large_intestine COSM1443235 TCF19 c.633delG p.T213fs*45 Deletion - Frameshift Large_intestine COSM1342903 KDM4A c.356G>A p.R119Q Substitution - Missense Large_intestine COSM1608859 CHD2 c.2858A>G p.N953S Substitution - Missense Liver COSM1615833 DIDO1 c.2536G>T p.A846S Substitution - Missense Liver COSM1620695 CHD1 c.3875A>T p.D1292V Substitution - Missense Liver COSM1581242 KMT2C c.7829G>A p.R2610Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1623359 TRRAP c.7040G>T p.R2347L Substitution - Missense Liver COSM1686746 PCGF2 c.316+1G>A p.? Unknown Skin COSM1720667 TDRD3 c.1470C>T p.F490F Substitution - coding silent Skin COSM1716414 CTCF c.610_611insA p.T204fs*26 Insertion - Frameshift Endometrium COSM1716964 ALKBH1 c.356_357insCCTT p.K120fs*2 Insertion - Frameshift Ovary COSM1749886 RAI1 c.967C>T p.Q323* Substitution - Nonsense Urinary_tract COSM1741097 ZBTB33 c.578_579insTTG p.D193_D194insC Insertion - In frame Haematopoietic_and_lymphoid_tissue COSM2064430 TDG c.1091-1G>A p.? Unknown Lung COSM2813717 SMARCA4 c.3357C>T p.R1119R Substitution - coding silent Large_intestine COSM2848362 GABRG1 c.1348G>A p.A450T Substitution - Missense Lung COSM2968175 SMC1A c.2114C>T p.A705V Substitution - Missense Large_intestine COSM3033684 MECP2 c.473C>T p.T158M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3166347 ATAD2 c.1779A>G p.E593E Substitution - coding silent Oesophagus COSM3188365 KAT2A c.2458G>A p.A820T Substitution - Missense Large_intestine COSM3283283 BRD4 c.1446G>A p.P482P Substitution - coding silent Stomach COSM3367386 CHD7 c.8450A>G p.N2817S Substitution - Missense Kidney COSM3403243 JMJD6 c.479T>C p.L160P Substitution - Missense Central_nervous_system COSM3490662 ORC1 c.1399C>T p.P467S Substitution - Missense Skin COSM3460333 PRMT8 c.598G>A p.V200M Substitution - Missense Skin COSM3450148 GLYATL1 c.631G>A p.G211R Substitution - Missense Skin COSM3633863 TIF1 c.2280G>A p.Q760Q Substitution - coding silent Skin COSM3521171 BPTF c.796C>T p.R266C Substitution - Missense Skin COSM3663863 NCOA2 c.1746A>G p.S582S Substitution - coding silent Liver COSM3697416 PRDM13 c.660C>G p.A220A Substitution - coding silent Large_intestine COSM3680842 DOT1L c.200+10G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3681227 DIDO1 c.6206A>C p.D2069A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3707762 CHD6 c.3784G>A p.V1262I Substitution - Missense Liver COSM3724250 ZMYM3 c.2661G>A p.P887P Substitution - coding silent Upper_aerodigestive_tract COSM3721218 CDYL c.1089G>A p.E363E Substitution - coding silent Upper_aerodigestive_tract COSM3757368 TRIM28 c.2148C>T p.P716P Substitution - coding silent Large_intestine COSM3752792 TRIM66 c.1397A>G p.H466R Substitution - Missense Upper_aerodigestive_tract COSM3763348 MYST3 c.2982G>A p.P994P Substitution - coding silent Soft_tissue COSM3807980 BTAF1 c.5406+2T>C p.? Unknown Breast COSM3787160 CREBBP c.5024A>G p.H1675R Substitution - Missense Pancreas COSM3862873 TDRD10 c.714C>T p.P238P Substitution - coding silent Skin COSM3857058 CHD1 c.2556T>C p.A852A Substitution - coding silent Stomach COSM3857076 PRDM13 c.1644G>A p.P548P Substitution - coding silent Stomach COSM3859826 JARID2 c.1349C>T p.A450V Substitution - Missense Bone COSM3937390 KAT2A c.2072C>T p.P691L Substitution - Missense Oesophagus COSM3827997 NIPBL c.1560T>G p.G520G Substitution - coding silent Breast COSM3889351 NCOR1 c.5726C>T p.P1909L Substitution - Missense Skin COSM3963192 KDM3A c.3254C>G p.S1085C Substitution - Missense Lung COSM4107283 FMR1 c.1821G>A p.T607T Substitution - coding silent Stomach COSM4096112 KDM3A c.191G>A p.C64Y Substitution - Missense Stomach COSM4147110 KMT2D c.2498C>T p.P833L Substitution - Missense Thyroid COSM4170395 KMT2D c.14465G>T p.C4822F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4170423 KMT2D c.7308_7309insT p.A2437fs*17 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4387301 BAZ2B c.5965A>G p.I1989V Substitution - Missense Lung COSM4385239 EP300 c.1081G>A p.V361M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4594560 KMT2C c.2591A>G p.E864G Substitution - Missense Skin COSM4604193 EZH2 c.1258C>G p.Q420E Substitution - Missense Upper_aerodigestive_tract COSM4541182 BAZ1A c.2959G>A p.E987K Substitution - Missense Skin COSM4576210 PRDM2 c.523T>C p.S175P Substitution - Missense Bone COSM4552407 MGA c.558G>A p.L186L Substitution - coding silent Skin COSM4571111 NSD1 c.3862T>A p.Y1288N Substitution - Missense Skin COSM4485337 NCOA2 c.2920C>T p.R974W Substitution - Missense Skin COSM4514894 ZMYND11 c.870C>A p.V290V Substitution - coding silent Skin COSM4584704 TET2 c.2104C>T p.H702Y Substitution - Missense Bone COSM4498307 ARID2 c.5179C>T p.P1727S Substitution - Missense Skin COSM4450699 INOC1 c.782delC p.P261fs*13 Deletion - Frameshift Skin COSM4459076 CBX2 c.1110C>T p.L370L Substitution - coding silent Skin COSM4685174 FMR1 c.1762A>T p.R588W Substitution - Missense Large_intestine COSM4689178 GTF3C1 c.4622G>A p.R1541H Substitution - Missense Large_intestine COSM4702482 KMT2C c.11590C>T p.R3864C Substitution - Missense Large_intestine COSM4614305 CHD2 c.3725_3726delAA p.K1245fs*13 Deletion - Frameshift Large_intestine COSM4620893 BRWD3 c.31G>A p.E11K Substitution - Missense Large_intestine COSM4798751 MTA1 c.1713C>T p.V571V Substitution - coding silent Liver COSM5001656 ARID1A c.1485T>G p.H495Q Substitution - Missense Pancreas COSM4987020 SMYD4 c.1879A>G p.M627V Substitution - Missense Soft_tissue COSM4988877 NSD1 c.2071G>A p.A691T Substitution - Missense Soft_tissue COSM5019722 KMT2C c.850-7C>T p.? Unknown Soft_tissue COSM5031020 KDM6A c.4073G>A p.C1358Y Substitution - Missense Endometrium COSM5014768 KMT2C c.13310C>T p.T4437M Substitution - Missense Stomach COSM5101758 BRPF1 c.2805_2806insC p.Q938fs*15 Insertion - Frameshift Breast COSM5047976 KDM6A c.3724G>C p.G1242R Substitution - Missense Oesophagus COSM5500833 DNMT3A c.2455C>G p.L819V Substitution - Missense Biliary_tract COSM5502866 PRDM8 c.1609C>T p.L537F Substitution - Missense Biliary_tract COSM5492208 HDAC9 c.2389delT p.F798fs*11 Deletion - Frameshift Biliary_tract COSM5428580 PRMT8 c.674C>T p.A225V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5438160 KDM4B c.528C>A p.Y176* Substitution - Nonsense Oesophagus COSM5638373 NCOA6 c.3423A>G p.P1141P Substitution - coding silent Oesophagus COSM5629127 ADNP c.1419A>G p.K473K Substitution - coding silent Oesophagus COSM5756935 MLL5 c.1993C>T p.R665C Substitution - Missense Large_intestine COSM5651830 SMARCA4 c.769G>T p.G257W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5757126 ATAD2 c.583C>G p.R195G Substitution - Missense Large_intestine COSM5655980 TBL1XR1 c.571T>C p.S191P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5730013 EHMT1 c.2990C>T p.A997V Substitution - Missense Skin COSM5726266 SETD1A c.3543C>T p.P1181P Substitution - coding silent Skin COSM5592677 PRDM15 c.2106C>T p.T702T Substitution - coding silent Skin COSM5599022 ACTR5 c.312C>T p.V104V Substitution - coding silent Skin COSM5613320 PRDM10 c.1287+2T>A p.? Unknown Lung COSM5613605 YEATS4 c.124delG p.H43fs*9 Deletion - Frameshift Lung COSM5610844 TET2 c.1489A>G p.T497A Substitution - Missense Skin COSM5586365 PWWP2B c.807C>T p.I269I Substitution - coding silent Skin COSM5657023 PCGF6 c.86T>C p.V29A Substitution - Missense Soft_tissue COSM5788927 BAZ2A c.2309C>T p.A770V Substitution - Missense Breast COSM5880077 PHF6 c.879_880insAT p.K295fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5799801 PHC2 c.1720G>A p.E574K Substitution - Missense Breast COSM5944976 DNMT3A c.1096C>A p.R366S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5915492 BAG6 c.1282C>T p.P428S Substitution - Missense Skin COSM5899919 BRPF1 c.2477G>A p.R826Q Substitution - Missense Skin COSM5921095 BPTF c.7081C>T p.P2361S Substitution - Missense Skin COSM5948173 INOC1 c.1963C>G p.Q655E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6006419 KMT2C c.1951G>A p.E651K Substitution - Missense Central_nervous_system COSM6000983 ZMYM2 c.2966C>G p.P989R Substitution - Missense Prostate COSM52786 PBRM1 c.856G>T p.E286* Substitution - Nonsense Kidney COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM144700 PHF6 c.? p.D333fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM13304 BRD2 c.89G>A p.G30E Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1717428 ARID1A c.? p.V1391M Substitution - Missense Biliary_tract COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1685350 EZH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5741239 ASXL3 c.2062A>G p.R688G Substitution - Missense Small_intestine COSM4991719 DNMT3A c.2103C>T p.F701F Substitution - coding silent Skin COSM4637501 MLL5 c.3751C>A p.Q1251K Substitution - Missense Large_intestine COSM1406743 ATAD2B_ENST00000238789 c.1404delT p.F468fs*9 Deletion - Frameshift Large_intestine COSM1265378 SFMBT2 c.1943A>C p.N648T Substitution - Missense Oesophagus COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM4675726 CXXC1 c.1406A>G p.D469G Substitution - Missense Large_intestine COSM5447307 LMNB2 c.196A>G p.T66A Substitution - Missense Large_intestine COSM4938308 PRMT3 c.45G>T p.V15V Substitution - coding silent Liver COSM4803078 PHF20 c.560C>T p.T187I Substitution - Missense Liver COSM4031005 ARID1A c.2201A>G p.D734G Substitution - Missense Stomach COSM4384965 PHF12 c.256C>T p.P86S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5053405 RBBP4 c.592G>C p.D198H Substitution - Missense Stomach COSM4394922 NSD1 c.6000C>T p.T2000T Substitution - coding silent Skin COSM4391919 GTF3C1 c.4736T>C p.L1579P Substitution - Missense Prostate COSM895813 POGZ c.2361C>A p.A787A Substitution - coding silent Endometrium COSM1178926 ZMYM3 c.143_144insC p.G49fs*13 Insertion - Frameshift Autonomic_ganglia COSM5379612 SMYD2 c.361G>A p.E121K Substitution - Missense Skin COSM4760546 KMT2A c.10969A>G p.K3657E Substitution - Missense Stomach COSM3986965 KMT2D c.8499T>A p.A2833A Substitution - coding silent Kidney COSM2755254 KDM4B c.1652T>C p.F551S Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM4566282 ASXL3 c.2529_2530GG>AA p.E844K Substitution - Missense Skin COSM484283 PHF3 c.3020C>T p.P1007L Substitution - Missense Kidney COSM4820629 MBD5 c.3588G>A p.Q1196Q Substitution - coding silent Cervix COSM1026091 NCOA6 c.2730C>T p.N910N Substitution - coding silent Large_intestine COSM5889781 NCOA1 c.545C>T p.P182L Substitution - Missense Skin COSM1564644 MBD3 c.19G>A p.E7K Substitution - Missense Large_intestine COSM5075578 KMT2C c.2749G>A p.G917R Substitution - Missense Kidney COSM4372728 EHMT1 c.3265G>A p.V1089I Substitution - Missense Large_intestine COSM235015 MYST3 c.2193C>T p.L731L Substitution - coding silent Skin COSM3942147 HDAC9 c.2920G>T p.A974S Substitution - Missense Oesophagus COSM2866845 TRRAP c.9983C>T p.A3328V Substitution - Missense Large_intestine COSM41292 IDH1 c.? p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1700048 MYST3 c.2116C>T p.Q706* Substitution - Nonsense Skin COSM4172535 IKZF1 c.? p.? Unknown Skin COSM1694921 PRDM5 c.625C>T p.P209S Substitution - Missense Skin COSM5731592 BAZ2B c.2134T>C p.S712P Substitution - Missense Central_nervous_system COSM4602618 EP300 c.1579C>T p.L527F Substitution - Missense Upper_aerodigestive_tract COSM5734920 MYST3 c.5777G>A p.R1926Q Substitution - Missense Pancreas COSM3963510 PHF20 c.725A>T p.E242V Substitution - Missense Lung COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4844399 ACTR8 c.13G>C p.E5Q Substitution - Missense Cervix COSM3284077 MBD3 c.230G>A p.S77N Substitution - Missense Stomach COSM4099090 NCOA3 c.46C>T p.R16* Substitution - Nonsense Stomach COSM1684078 TDRD6 c.2114_2116delAAG p.E705delE Deletion - In frame Large_intestine COSM1169351 KDM6B c.1297T>C p.S433P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3704150 ARID2 c.5188C>T p.Q1730* Substitution - Nonsense Liver COSM907723 ARID1A c.4003C>T p.R1335* Substitution - Nonsense Endometrium COSM1611162 SMCHD1 c.2413A>G p.I805V Substitution - Missense Liver COSM1312867 KMT2C c.9638C>T p.S3213L Substitution - Missense Urinary_tract COSM1316313 BAZ1B c.2918C>T p.T973I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2095541 TDRD5 c.1953G>C p.L651F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4495451 DIDO1 c.4542C>T p.F1514F Substitution - coding silent Skin COSM4161071 PHF1 c.1686A>G p.G562G Substitution - coding silent Thyroid COSM4728367 SMC1A c.2240G>A p.R747H Substitution - Missense Large_intestine COSM5028954 TAF1 c.4837C>G p.Q1613E Substitution - Missense Breast COSM4107979 HCFC1 c.3036C>T p.C1012C Substitution - coding silent Stomach COSM5716624 ZCWPW1 c.481G>A p.E161K Substitution - Missense Skin COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3726246 NSD1 c.6329A>T p.Q2110L Substitution - Missense Lung COSM1683735 PRDM2 c.3376_3378delGTT p.V1126delV Deletion - In frame Central_nervous_system COSM3983287 RAI1 c.4763C>T p.S1588L Substitution - Missense Ovary COSM3760359 PRDM5 c.681A>G p.L227L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1236666 ARID1A c.4091A>T p.Q1364L Substitution - Missense Autonomic_ganglia COSM80217 NCOA7 c.2115A>C p.T705T Substitution - coding silent Ovary COSM4047965 SETDB2 c.513T>A p.C171* Substitution - Nonsense Stomach COSM939970 KMT2D c.15473G>A p.G5158D Substitution - Missense Endometrium COSM4448598 KDM1A c.1092delG p.V365fs*5 Deletion - Frameshift Skin COSM3712779 SMARCA4 c.223-1G>T p.? Unknown Upper_aerodigestive_tract COSM1349249 TAF3 c.443G>A p.G148D Substitution - Missense Large_intestine COSM4806399 ASXL1 c.115G>C p.E39Q Substitution - Missense Liver COSM467730 PRDM4 c.2264C>T p.P755L Substitution - Missense Kidney COSM24596 SMARCB1 c.978C>A p.Y326* Substitution - Nonsense Central_nervous_system COSM941750 BAZ2A_ENST00000379441 c.3125G>A p.R1042H Substitution - Missense Oesophagus COSM691510 HCFC2 c.2171A>T p.N724I Substitution - Missense Lung COSM4689177 GTF3C1 c.5339T>C p.F1780S Substitution - Missense Large_intestine COSM4612122 BRWD1 c.1081_1082insA p.I361fs*5 Insertion - Frameshift Large_intestine COSM4646217 POLE3 c.119C>T p.A40V Substitution - Missense Large_intestine COSM5878932 TET2 c.773_774insT p.E259fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1458053 PRDM14 c.1513C>T p.R505C Substitution - Missense Skin COSM4551423 SMNDC1 c.528G>T p.V176V Substitution - coding silent Skin COSM71025 HCFC1 c.2148A>T p.K716N Substitution - Missense Ovary COSM3889375 RAI1 c.924C>T p.L308L Substitution - coding silent Skin COSM290727 BPTF c.8028T>C p.A2676A Substitution - coding silent Large_intestine COSM162181 LMNA c.814G>T p.D272Y Substitution - Missense Breast COSM1201025 CHD9 c.8572G>T p.G2858* Substitution - Nonsense Large_intestine COSM1687263 ARID1A c.2327C>G p.P776R Substitution - Missense Skin COSM3021850 JARID2 c.2479C>T p.R827* Substitution - Nonsense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1348869 SFMBT2 c.2583G>A p.P861P Substitution - coding silent Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3384979 PRMT6 c.360G>A p.K120K Substitution - coding silent Pancreas COSM481294 GABRG1 c.1293G>A p.R431R Substitution - coding silent Kidney COSM3398045 DPF2 c.113G>A p.R38H Substitution - Missense Central_nervous_system COSM4623851 MBD3 c.312G>A p.T104T Substitution - coding silent Large_intestine COSM1157868 EPC2 c.1496G>A p.R499Q Substitution - Missense Pancreas COSM3524739 SMCHD1 c.681G>A p.M227I Substitution - Missense Skin COSM4818696 KDM3B c.2153C>G p.S718C Substitution - Missense Cervix COSM3974754 PRMT10 c.1361T>C p.M454T Substitution - Missense Central_nervous_system COSM253161 AKAP1 c.946G>A p.G316S Substitution - Missense Breast COSM3820339 BPTF c.6194G>C p.R2065T Substitution - Missense Breast COSM5607220 ZBTB33 c.1942G>A p.E648K Substitution - Missense Skin COSM5768132 ERCC6 c.2243C>T p.S748L Substitution - Missense Breast COSM4628582 SND1 c.2143C>T p.R715C Substitution - Missense Large_intestine COSM1311072 PRDM9 c.494C>G p.S165* Substitution - Nonsense Urinary_tract COSM2965308 KDM6A c.477T>C p.V159V Substitution - coding silent Upper_aerodigestive_tract COSM3523264 CHD3 c.2859C>T p.I953I Substitution - coding silent Skin COSM24832 HNF1A c.685C>T p.R229* Substitution - Nonsense Large_intestine COSM3879533 KMT2C c.10348C>T p.Q3450* Substitution - Nonsense Stomach COSM3429360 PRDM9 c.102C>T p.Y34Y Substitution - coding silent Large_intestine COSM1117749 HCFC1 c.2532A>G p.A844A Substitution - coding silent Endometrium COSM1671328 PHF17 c.524T>C p.L175P Substitution - Missense Large_intestine COSM328011 IKZF1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3867844 KAT6B c.5677C>T p.P1893S Substitution - Missense Skin COSM4101711 PRDM15 c.2706C>T p.S902S Substitution - coding silent Stomach COSM1341426 ARID1A c.5542delG p.D1850fs*33 Deletion - Frameshift Large_intestine COSM909895 KDM4A c.1199G>A p.R400Q Substitution - Missense Endometrium COSM4671964 CHD2 c.1680C>T p.N560N Substitution - coding silent Large_intestine COSM4651714 HDAC6 c.2924C>T p.T975M Substitution - Missense Large_intestine COSM1611925 DOT1L c.188A>G p.Y63C Substitution - Missense Liver COSM96419 EP300 c.4195G>T p.D1399Y Substitution - Missense Oesophagus COSM1197153 EP400 c.7988C>T p.T2663M Substitution - Missense Lung COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5912962 TAF1L c.4108C>T p.P1370S Substitution - Missense Skin COSM1243395 MBD5 c.3620G>A p.R1207Q Substitution - Missense Oesophagus COSM346574 SMYD2 c.796G>A p.E266K Substitution - Missense Lung COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3919885 PRDM9 c.277G>A p.E93K Substitution - Missense Skin COSM3445293 PRDM10 c.2439C>T p.P813P Substitution - coding silent Skin COSM4651682 EHMT1 c.2753A>G p.E918G Substitution - Missense Large_intestine COSM457990 TAF1 c.4111C>T p.H1371Y Substitution - Missense Breast COSM21739 SIRT6 c.23G>A p.G8E Substitution - Missense Skin COSM1685359 SETBP1 c.? p.G870D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1609127 GTF3C1 c.5543A>G p.E1848G Substitution - Missense Liver COSM3931546 HNF1A c.1375C>T p.L459L Substitution - coding silent Liver COSM722978 KDM3A c.2229G>A p.A743A Substitution - coding silent Oesophagus COSM4681096 EP300 c.6644A>G p.Q2215R Substitution - Missense Large_intestine COSM1644335 ARID1A c.5541_5542insG p.D1850fs*4 Insertion - Frameshift Endometrium COSM3854567 PRDM9 c.790G>C p.A264P Substitution - Missense Stomach COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5343574 DNMT3B c.2047C>T p.R683C Substitution - Missense Large_intestine COSM3712777 CARM1 c.823G>T p.A275S Substitution - Missense Upper_aerodigestive_tract COSM1450169 CBX3 c.36delA p.K14fs*23 Deletion - Frameshift Large_intestine COSM1027546 NCOA3 c.3786G>A p.Q1262Q Substitution - coding silent Central_nervous_system COSM2919906 CREBBP c.6227C>T p.S2076L Substitution - Missense Skin COSM5554055 BAZ2B c.6470T>G p.F2157C Substitution - Missense Prostate COSM1222120 PRMT8 c.1015G>A p.V339I Substitution - Missense Pancreas COSM2210748 ASH1L c.1313C>T p.A438V Substitution - Missense Large_intestine COSM5719630 SMYD1 c.1333G>A p.E445K Substitution - Missense Skin COSM4543021 JARID2 c.3301G>A p.E1101K Substitution - Missense Skin COSM351346 ARID1B c.5377G>T p.E1793* Substitution - Nonsense Lung COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5911077 SETD4 c.308C>T p.P103L Substitution - Missense Upper_aerodigestive_tract COSM1680633 DNMT1 c.4801C>T p.R1601* Substitution - Nonsense Large_intestine COSM4603233 DIDO1 c.4878_4879insC p.A1627fs*53 Insertion - Frameshift Upper_aerodigestive_tract COSM87274 EZH2 c.1505G>A p.R502Q Substitution - Missense Endometrium COSM4995134 KMT2D c.12913C>A p.L4305I Substitution - Missense Upper_aerodigestive_tract COSM3432091 ATAD2 c.624T>C p.F208F Substitution - coding silent Large_intestine COSM1440256 NCOA7 c.1984A>G p.K662E Substitution - Missense Large_intestine COSM1299792 CHD4 c.4111G>C p.E1371Q Substitution - Missense Urinary_tract COSM5470877 SMARCA4 c.2860-2A>G p.? Unknown Large_intestine COSM5804280 NIPBL c.2392G>A p.A798T Substitution - Missense Liver COSM1620271 NIPBL c.4776+9A>G p.? Unknown Liver COSM5424519 ARID4A c.3768C>T p.C1256C Substitution - coding silent Oesophagus COSM1504169 RNF134 c.270G>A p.L90L Substitution - coding silent Large_intestine COSM1721203 DIDO1 c.6686C>T p.S2229L Substitution - Missense Skin COSM1267591 TDRD7 c.1990G>C p.D664H Substitution - Missense Oesophagus COSM5049541 PHF3 c.4163C>A p.T1388K Substitution - Missense Oesophagus COSM3736469 MYST3 c.401T>C p.L134S Substitution - Missense Soft_tissue COSM1664886 UHRF2 c.2039C>T p.A680V Substitution - Missense Kidney COSM3706827 CHD2 c.3004G>T p.A1002S Substitution - Missense Liver COSM456270 PHF2 c.372C>T p.T124T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1443308 BAG6 c.2824delC p.Q942fs*85 Deletion - Frameshift Large_intestine COSM3776946 CHD1 c.3295G>T p.D1099Y Substitution - Missense Urinary_tract COSM3792315 SETD8 c.747C>T p.L249L Substitution - coding silent Urinary_tract COSM3492908 RERE c.1745C>G p.S582W Substitution - Missense Skin COSM4074060 SMARCA4 c.4023C>T p.D1341D Substitution - coding silent Stomach COSM5572375 PHRF1 c.4772A>G p.Y1591C Substitution - Missense Prostate COSM1378075 GLYR1 c.1140delG p.R381fs*20 Deletion - Frameshift Stomach COSM1363338 MBD6 c.626delC p.S211fs*57 Deletion - Frameshift Large_intestine COSM1193386 KIAA2026_ENST00000399933 c.1928A>G p.H643R Substitution - Missense Large_intestine COSM896615 TDRD10 c.22C>T p.P8S Substitution - Missense Endometrium COSM4972276 SUV39H1 c.284G>A p.R95K Substitution - Missense Thyroid COSM4136211 CHD4 c.293A>T p.E98V Substitution - Missense Pancreas COSM445070 TCF20 c.4312C>T p.R1438C Substitution - Missense Breast COSM1601923 KDM1A c.21G>T p.A7A Substitution - coding silent Liver COSM1169580 PBRM1 c.3859G>A p.E1287K Substitution - Missense Breast COSM30373 KMT2D c.837C>T p.C279C Substitution - coding silent Kidney COSM5945804 BAP1 c.? p.Q40* Substitution - Nonsense Peritoneum COSM3525860 SETBP1 c.1945C>T p.H649Y Substitution - Missense Skin COSM3786291 MTF2 c.24T>G p.G8G Substitution - coding silent Pancreas COSM1406750 HDAC4 c.1921G>A p.V641M Substitution - Missense Large_intestine COSM302343 GTF3C4 c.1944C>A p.P648P Substitution - coding silent Central_nervous_system COSM5757217 MYST3 c.3720G>T p.E1240D Substitution - Missense Large_intestine COSM1018611 HDAC4 c.3043C>T p.R1015C Substitution - Missense Endometrium COSM4823785 KMT2A c.10317C>T p.A3439A Substitution - coding silent Cervix COSM3376278 KMT2D c.6479T>C p.L2160P Substitution - Missense Pancreas COSM41877 IDH2 c.418C>T p.R140W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3626159 BRPF3 c.888C>T p.I296I Substitution - coding silent Skin COSM5418763 UTY c.112delC p.L38fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM226875 TAF1 c.4645G>A p.D1549N Substitution - Missense Skin COSM468682 BAZ2A_ENST00000379441 c.755A>G p.Y252C Substitution - Missense Kidney COSM275029 EYA4 c.887C>T p.S296L Substitution - Missense Large_intestine COSM256345 ARID4A c.3680C>T p.A1227V Substitution - Missense Large_intestine COSM1622592 KMT2C c.13349T>C p.V4450A Substitution - Missense Liver COSM1610708 PHF23 c.35-1G>T p.? Unknown Liver COSM145193 CARM1 c.499G>A p.V167M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3767494 BAP1 c.654T>C p.T218T Substitution - coding silent Liver COSM4842419 SMARCD2 c.1393G>T p.E465* Substitution - Nonsense Cervix COSM3172759 L3MBTL3 c.366C>T p.N122N Substitution - coding silent Large_intestine COSM145193 CARM1 c.499G>A p.V167M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM987391 SMCHD1 c.249C>T p.G83G Substitution - coding silent Endometrium COSM5904303 TRIM24 c.1085T>A p.F362Y Substitution - Missense Skin COSM5484175 BAHCC1 c.4361G>A p.R1454Q Substitution - Missense Large_intestine COSM3915680 KAT2B c.1199C>T p.S400L Substitution - Missense Skin COSM5994770 KAT2B c.1475G>C p.G492A Substitution - Missense Prostate COSM1201024 CHD9 c.8105G>T p.G2702V Substitution - Missense Large_intestine COSM3615201 PRDM9 c.728C>T p.P243L Substitution - Missense Skin COSM2909386 ATAD2B_ENST00000238789 c.841G>A p.D281N Substitution - Missense Large_intestine COSM4049062 YY1 c.740C>T p.S247L Substitution - Missense Stomach COSM1122933 KDM5C c.3642_3643delGT p.V1216fs*83 Deletion - Frameshift Endometrium COSM1583049 ASXL1 c.? p.T514fs*13 Frameshift Haematopoietic_and_lymphoid_tissue COSM132974 ASXL1 c.? p.Q780* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM51427 ARID1A c.3211_3211delA p.K1072fs*21 Deletion - Frameshift Ovary COSM4717486 PRDM16 c.832G>T p.G278C Substitution - Missense Large_intestine COSM907745 ARID1A c.5779_5780insCT p.K1928fs*29 Insertion - Frameshift Endometrium COSM5751594 KDM6A c.3333_3334insG p.V1112fs*39 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3399582 TTF2 c.852G>A p.E284E Substitution - coding silent Central_nervous_system COSM1107898 SMARCA2 c.4760C>T p.T1587M Substitution - Missense Endometrium COSM3754330 TP53BP1 c.3406A>C p.K1136Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1357130 RSF1 c.603T>C p.T201T Substitution - coding silent Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3720776 ALKBH1 c.335G>A p.W112* Substitution - Nonsense Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM953996 MTA1 c.33C>T p.Y11Y Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1202764 CXXC1 c.1150G>A p.A384T Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM228110 KMT2C c.1042G>A p.D348N Substitution - Missense Soft_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5893190 TDRD6 c.5575T>C p.S1859P Substitution - Missense Skin COSM916823 TRDMT1 c.1086G>T p.E362D Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4398601 MBD5 c.3784G>A p.E1262K Substitution - Missense Skin COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM702077 CHD2 c.332G>T p.R111L Substitution - Missense Lung COSM1236077 MECOM c.791A>C p.D264A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1672248 JARID2 c.114G>T p.K38N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5800659 TET2 c.1652A>T p.D551V Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3587829 HDAC11 c.574T>C p.F192L Substitution - Missense Skin COSM3363362 DIDO1 c.2301T>C p.L767L Substitution - coding silent Kidney COSM4014452 ERCC6 c.1760C>T p.T587M Substitution - Missense Stomach COSM5822879 RBBP5 c.728A>T p.Q243L Substitution - Missense Liver COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM3687400 PHRF1 c.234C>T p.D78D Substitution - coding silent Large_intestine COSM3410731 ARID1B c.2786C>T p.A929V Substitution - Missense Large_intestine COSM1225378 SETD5_ENST00000402198 c.1242A>C p.Q414H Substitution - Missense Large_intestine COSM1234988 ASXL1 c.2122C>T p.Q708* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3663861 PRDM14 c.613G>A p.V205I Substitution - Missense Liver COSM1237162 CHD1 c.2129T>C p.V710A Substitution - Missense Parathyroid COSM5415907 TET2 c.? p.R1404* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3458264 EP400 c.8075C>T p.S2692F Substitution - Missense Skin COSM1406115 SP140_ENST00000392045 c.2332delT p.F779fs*17 Deletion - Frameshift Large_intestine COSM3296276 EPC2 c.1208G>A p.R403Q Substitution - Missense Large_intestine COSM3069604 SMARCC1 c.3067A>G p.M1023V Substitution - Missense Breast COSM4014445 ERCC6 c.2649C>G p.L883L Substitution - coding silent Stomach COSM4850049 SMARCC2 c.2908C>T p.Q970* Substitution - Nonsense Cervix COSM3878704 JHDM1D c.839A>T p.D280V Substitution - Missense Stomach COSM4411453 BAP1 c.1557delC p.S520fs*51 Deletion - Frameshift Kidney COSM1167991 ARID2 c.890C>T p.S297F Substitution - Missense Skin COSM3689341 SMYD2 c.181G>T p.G61* Substitution - Nonsense Large_intestine COSM1687344 RBBP4 c.935C>T p.S312F Substitution - Missense Skin COSM3415185 SIRT1 c.1628G>T p.R543I Substitution - Missense Large_intestine COSM3560211 SCML2 c.891G>A p.R297R Substitution - coding silent Skin COSM37030 EZH2 c.1936T>C p.Y646H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43429 TET2 c.3778_3778delA p.N1260fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM51487 ARID1A c.734_747del14 p.A245fs*150 Deletion - Frameshift Ovary COSM53010 EZH2 c.2199C>A p.Y733* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM53190 SMARCA4 c.1756A>T p.K586* Substitution - Nonsense Lung COSM53204 ASXL1 c.2290_2290delC p.L764fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85568 KMT2C c.5935_5939delCCCAA p.P1979fs*25 Deletion - Frameshift Pancreas COSM96444 CREBBP c.5660C>G p.S1887* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM96442 EP300 c.4401_4402insA p.M1470fs*3 Insertion - Frameshift Large_intestine COSM149376 SETD2 c.4376C>T p.P1459L Substitution - Missense Soft_tissue COSM176786 TET2 c.1422G>A p.P474P Substitution - coding silent Large_intestine COSM196570 RSF1 c.3805C>T p.R1269W Substitution - Missense Large_intestine COSM211744 TET2 c.5122_5122delA p.S1708fs*11 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM219042 TET2 c.1285G>A p.G429R Substitution - Missense Thymus COSM211755 TET2 c.318_331del14 p.L107fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM234248 HDAC3 c.793C>T p.R265* Substitution - Nonsense Skin COSM225033 TP53BP1 c.4976C>T p.A1659V Substitution - Missense Skin COSM247481 SMYD1 c.1054C>T p.R352W Substitution - Missense Prostate COSM273498 ZMYM3 c.3064C>T p.P1022S Substitution - Missense Large_intestine COSM376187 KDM3A c.2591C>T p.T864I Substitution - Missense Lung COSM417011 CREBBP c.4990C>T p.R1664C Substitution - Missense Large_intestine COSM416246 CHD8 c.4592G>A p.R1531H Substitution - Missense Urinary_tract COSM423071 PBRM1 c.1547delA p.K516fs*3 Deletion - Frameshift Kidney COSM466809 PRDM11 c.1029_1030GG>AA p.L343>? Complex Kidney COSM485786 TRRAP c.1353T>C p.V451V Substitution - coding silent Kidney COSM915016 TDRD1 c.1432G>A p.V478I Substitution - Missense Endometrium COSM1022752 SMYD5 c.380G>A p.R127Q Substitution - Missense Endometrium COSM1019114 NCOA1 c.184G>T p.V62L Substitution - Missense Endometrium COSM757217 PHF16 c.1706G>T p.S569I Substitution - Missense Lung COSM702823 GTF3C1 c.3972C>T p.V1324V Substitution - coding silent Lung COSM924947 PRDM10 c.2223C>T p.H741H Substitution - coding silent Endometrium COSM993747 DOT1L c.1536G>T p.Q512H Substitution - Missense Endometrium COSM1073183 L3MBTL3 c.1781G>A p.R594H Substitution - Missense Large_intestine COSM970042 SETD1A c.1925C>T p.P642L Substitution - Missense Endometrium COSM1109528 UHRF2 c.962G>A p.G321E Substitution - Missense Endometrium COSM1122921 KDM5C c.4451G>A p.S1484N Substitution - Missense Endometrium COSM1087529 KMT2C c.12555T>C p.H4185H Substitution - coding silent Endometrium COSM1099953 MYST3 c.1482+2T>C p.? Unknown Endometrium COSM1180961 ATXN7 c.2334delC p.T781fs*11 Deletion - Frameshift Large_intestine COSM1211251 JARID2 c.1412G>A p.G471D Substitution - Missense Large_intestine COSM1162076 KDM5D c.2434G>T p.V812L Substitution - Missense Kidney COSM1606141 ARID2 c.3817C>T p.R1273* Substitution - Nonsense Liver COSM1292393 MLL5 c.4070C>T p.P1357L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1304321 DOT1L c.2931C>T p.T977T Substitution - coding silent Urinary_tract COSM1321524 TDRD1 c.2770+1G>T p.? Unknown Ovary COSM1387350 CHD3 c.1550delG p.E519fs*4 Deletion - Frameshift Large_intestine COSM1348591 JMJD1C c.2342T>C p.V781A Substitution - Missense Large_intestine COSM1365736 ZMYM2 c.3742delA p.N1250fs*3 Deletion - Frameshift Large_intestine COSM1349251 TAF3 c.981G>A p.T327T Substitution - coding silent Large_intestine COSM1341405 ARID1A c.2518C>T p.Q840* Substitution - Nonsense Liver COSM1611524 SMARCA4 c.1666C>T p.Q556* Substitution - Nonsense Liver COSM1582729 BAZ1B c.4333C>T p.P1445S Substitution - Missense Stomach COSM1622667 HDAC9 c.1A>G p.M1V Substitution - Missense Liver COSM1623351 TRRAP c.2217T>C p.I739I Substitution - coding silent Liver COSM1637003 KDM5D c.2374C>T p.R792C Substitution - Missense Bone COSM1675577 TDRD1 c.2499A>G p.I833M Substitution - Missense Large_intestine COSM1659057 ARID1A c.4069C>T p.Q1357* Substitution - Nonsense Stomach COSM1665116 ZMYM6 c.3929T>C p.V1310A Substitution - Missense Kidney COSM1724995 TET2 c.4541delT p.L1515fs*56 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2154660 TDRD10 c.574G>A p.V192I Substitution - Missense Central_nervous_system COSM2723784 ZBTB33 c.1748T>G p.L583R Substitution - Missense Large_intestine COSM2739864 SMYD4 c.2327G>A p.G776D Substitution - Missense Large_intestine COSM2783392 ATXN7 c.1300C>T p.P434S Substitution - Missense Skin COSM3124656 ZBTB38 c.1500T>C p.A500A Substitution - coding silent Large_intestine COSM3341131 NSD1 c.3844T>G p.L1282V Substitution - Missense Large_intestine COSM3365318 SETD5_ENST00000402198 c.600G>C p.E200D Substitution - Missense Kidney COSM3373407 PRMT10 c.1183A>T p.I395F Substitution - Missense Thyroid COSM3486480 SMYD3 c.368C>T p.S123F Substitution - Missense Skin COSM3473530 SETDB1 c.1727A>G p.H576R Substitution - Missense Skin COSM3589895 MECOM c.602C>T p.S201L Substitution - Missense Skin COSM3525462 ASXL3 c.2652G>A p.E884E Substitution - coding silent Skin COSM3715045 NSD1 c.1549C>T p.Q517* Substitution - Nonsense Upper_aerodigestive_tract COSM3733738 SMYD4 c.1736G>A p.R579Q Substitution - Missense Pancreas COSM3865324 PRDM16 c.1073C>T p.S358L Substitution - Missense Skin COSM3826845 KDM3B c.1189G>C p.E397Q Substitution - Missense Breast COSM3911201 PHF20 c.2535C>T p.R845R Substitution - coding silent Stomach COSM3874512 TDRD6 c.508G>A p.V170I Substitution - Missense Large_intestine COSM3954723 KDM5A c.3497G>A p.C1166Y Substitution - Missense Lung COSM3978955 HELLS c.1033-10C>T p.? Unknown Lung COSM3995306 ING3 c.209A>G p.Y70C Substitution - Missense Kidney COSM4092785 HDAC4 c.1117G>A p.A373T Substitution - Missense Stomach COSM4092800 HDAC4 c.110C>T p.A37V Substitution - Missense Large_intestine COSM4119059 BAP1 c.1652G>A p.R551H Substitution - Missense Stomach COSM4070330 CHD3 c.1381G>A p.V461I Substitution - Missense Stomach COSM4060193 SRCAP c.3047G>A p.R1016Q Substitution - Missense Stomach COSM4137768 HCFC1 c.3584C>A p.P1195Q Substitution - Missense Ovary COSM4144891 TAF3 c.2737G>A p.A913T Substitution - Missense Thyroid COSM4163690 SMARCA2 c.707A>C p.Q236P Substitution - Missense Thyroid COSM4385606 TET2 c.4760_4761insT p.I1588fs*26 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4420895 SMYD1 c.1146-6C>T p.? Unknown Prostate COSM4420553 JMJD1C c.2671C>A p.P891T Substitution - Missense Central_nervous_system COSM4414619 EYA1 c.1011C>T p.H337H Substitution - coding silent Kidney COSM4431600 KMT2D c.14298_14300delTGA p.H4766_E4767>Q Complex - deletion inframe Oesophagus COSM4506463 IDH2 c.720C>T p.I240I Substitution - coding silent Skin COSM4466727 CBX6 c.144C>T p.I48I Substitution - coding silent Skin COSM4742908 ZMYM2 c.3124_3125delAA p.K1044fs*14 Deletion - Frameshift Large_intestine COSM4611392 HDAC7 c.1089_1090insC p.S364fs*33 Insertion - Frameshift Large_intestine COSM4802624 AKAP1 c.1616G>A p.S539N Substitution - Missense Liver COSM4808386 PHF20 c.1345G>C p.D449H Substitution - Missense Pancreas COSM4894896 L3MBTL4 c.1374A>T p.R458S Substitution - Missense Skin COSM4883756 KMT2D c.15305C>A p.T5102N Substitution - Missense Upper_aerodigestive_tract COSM4888897 DNMT3A c.531G>T p.E177D Substitution - Missense Upper_aerodigestive_tract COSM4854811 ACTL6A c.121A>G p.I41V Substitution - Missense Cervix COSM4949870 ARID1A c.1070_1071GC>T p.S357fs*6 Complex - frameshift Liver COSM4950011 HDAC6 c.645T>G p.H215Q Substitution - Missense Liver COSM4956739 TDRD5 c.356G>T p.R119L Substitution - Missense Liver COSM4967092 KMT2A c.7290A>C p.K2430N Substitution - Missense Central_nervous_system COSM5003134 BRDT c.2504A>G p.E835G Substitution - Missense Pancreas COSM4979945 KDM6B c.2412C>T p.L804L Substitution - coding silent Oesophagus COSM4976476 NSD1 c.6013C>T p.R2005* Substitution - Nonsense Oesophagus COSM5024783 PHIP c.1571C>A p.P524H Substitution - Missense Large_intestine COSM4970692 MEN1 c.484G>C p.V162L Substitution - Missense Central_nervous_system COSM5012968 CREBBP c.3828C>A p.D1276E Substitution - Missense Kidney COSM5055716 BPTF c.5775G>A p.P1925P Substitution - coding silent Stomach COSM5053382 PRDM16 c.100G>A p.A34T Substitution - Missense Stomach COSM5047361 CREBBP c.6457G>A p.G2153S Substitution - Missense Oesophagus COSM5346906 ARID1A c.1791delC p.P598fs*21 Deletion - Frameshift Endometrium COSM5396695 NCOA1 c.3781C>T p.P1261S Substitution - Missense Skin COSM5369849 IDH1 c.314G>T p.G105V Substitution - Missense Lung COSM5498433 PHF21B c.409G>A p.A137T Substitution - Missense Biliary_tract COSM5771773 KDM6B c.3827C>G p.T1276S Substitution - Missense Breast COSM5717662 KMT2D c.6709C>T p.H2237Y Substitution - Missense Skin COSM5611032 TRRAP c.1731C>A p.P577P Substitution - coding silent Skin COSM5692446 KAT5 c.811G>T p.G271C Substitution - Missense Soft_tissue COSM5879018 TET2 c.3726_3727insA p.L1244fs*24 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5803990 EYA3 c.222A>T p.A74A Substitution - coding silent Liver COSM5950027 KMT2D c.2352delC p.I785fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5946362 PRDM1 c.71_85del15 p.I25_H29delIVNDH Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM5935299 KMT2C c.11986G>A p.D3996N Substitution - Missense Skin COSM5886652 WDR5 c.528+8C>T p.? Unknown Skin COSM5907355 KDM3B c.2096C>T p.S699F Substitution - Missense Skin COSM5967525 MSH6 c.2079_2079delA p.K693fs*43 Deletion - Frameshift Large_intestine COSM5974050 CHD6 c.685G>C p.E229Q Substitution - Missense Upper_aerodigestive_tract COSM34201 MSH6 c.? p.? Unknown Endometrium COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4972323 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53114 TET2 c.? p.Q1529* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM43117 TET2 c.1_6009del6009 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Central_nervous_system COSM1685367 ASXL1 c.? p.L622fs*9 Frameshift Haematopoietic_and_lymphoid_tissue COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM4385573 TET2 c.1742_1743insA p.N582fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2802553 KDM6B c.397G>A p.A133T Substitution - Missense Large_intestine COSM283987 PHF20L1 c.252C>A p.F84L Substitution - Missense Large_intestine COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM4788109 KMT2A c.2863G>A p.A955T Substitution - Missense Liver COSM4505643 AP001011.3_ENST00000320876 c.698C>T p.S233F Substitution - Missense Skin COSM5675177 GTF3C1 c.5620G>T p.D1874Y Substitution - Missense Soft_tissue COSM4925898 IDH2 c.1084C>T p.R362W Substitution - Missense Liver COSM4099104 NCOA3 c.3953G>A p.G1318E Substitution - Missense Stomach COSM5030711 KMT2D c.7399_7400insC p.F2469fs*30 Insertion - Frameshift Bone COSM4793085 EED c.547A>G p.I183V Substitution - Missense Liver COSM4852554 PRDM9 c.137G>A p.W46* Substitution - Nonsense Cervix COSM4611384 HNF1A c.864_865insC p.G292fs*25 Insertion - Frameshift Liver COSM4613907 NCOR1 c.1713delG p.R572fs*18 Deletion - Frameshift Large_intestine COSM4972802 PHF21A c.301T>C p.Y101H Substitution - Missense Oesophagus COSM5781836 CHD4 c.3879+2T>A p.? Unknown Breast COSM969244 GTF3C1 c.6068G>A p.R2023H Substitution - Missense Endometrium COSM5752076 PHF6 c.721_722insCA p.K241fs*39 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM470057 ARID4A c.2094T>A p.S698S Substitution - coding silent Kidney COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4767421 ARID1B c.5368C>T p.R1790C Substitution - Missense Large_intestine COSM4546916 RAI1 c.4100G>A p.G1367E Substitution - Missense Skin COSM4300099 L3MBTL2 c.700T>C p.S234P Substitution - Missense Upper_aerodigestive_tract COSM4590120 KDM4B c.2128A>G p.K710E Substitution - Missense Upper_aerodigestive_tract COSM894481 TTF2 c.185G>A p.G62D Substitution - Missense Endometrium COSM1714907 PHF16 c.229G>A p.E77K Substitution - Missense Skin COSM3921138 HDGFL1 c.594C>T p.L198L Substitution - coding silent Skin COSM3906834 TAF1L c.5192A>G p.K1731R Substitution - Missense Stomach COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1184889 BRD1 c.776G>A p.R259H Substitution - Missense Stomach COSM5966941 MEAF6 c.52G>T p.E18* Substitution - Nonsense Adrenal_gland COSM4939524 KMT2C c.9010C>G p.L3004V Substitution - Missense Liver COSM42057 TET2 c.3803+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3758108 ATAD2B_ENST00000238789 c.202C>T p.L68L Substitution - coding silent Large_intestine COSM5584006 RERE c.3840C>T p.P1280P Substitution - coding silent Skin COSM4591407 DIDO1 c.4872G>C p.K1624N Substitution - Missense Upper_aerodigestive_tract COSM215995 EYA4 c.332C>T p.T111M Substitution - Missense Central_nervous_system COSM5778172 SIRT4 c.659G>A p.C220Y Substitution - Missense Breast COSM4150816 ARID4A c.1845G>C p.W615C Substitution - Missense Kidney COSM745859 KMT2C c.4828G>C p.D1610H Substitution - Missense Lung COSM4791526 BRWD1 c.4915A>C p.K1639Q Substitution - Missense Liver COSM1168032 TET2 c.1673_1674delAC p.H558fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1312873 KMT2C c.5272C>T p.R1758C Substitution - Missense Urinary_tract COSM1660801 BRWD3 c.5090G>T p.R1697L Substitution - Missense Kidney COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4595028 KMT2C c.2681G>A p.R894Q Substitution - Missense Soft_tissue COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1015582 IDH1 c.210C>T p.G70G Substitution - coding silent Endometrium COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM3737488 ZMYM3 c.2229C>A p.C743* Substitution - Nonsense Soft_tissue COSM1609384 BRD7 c.1346delT p.L449fs*19 Deletion - Frameshift Liver COSM1221874 PRDM13 c.541G>A p.A181T Substitution - Missense Large_intestine COSM4462814 KMT2D c.11803C>T p.L3935L Substitution - coding silent Skin COSM300615 MORF4L2 c.255C>T p.N85N Substitution - coding silent Endometrium COSM4904822 RNF17 c.612G>A p.R204R Substitution - coding silent Skin COSM1334661 ASH1L c.3620A>C p.N1207T Substitution - Missense Large_intestine COSM920519 KAT6B c.474C>T p.R158R Substitution - coding silent Endometrium COSM333514 BTAF1 c.2408T>C p.I803T Substitution - Missense Lung COSM3296244 EPC2 c.45G>A p.K15K Substitution - coding silent Upper_aerodigestive_tract COSM4019326 PRDM10 c.1523G>A p.R508H Substitution - Missense Stomach COSM5723957 SMARCA2 c.1898C>T p.S633F Substitution - Missense Skin COSM988829 MBD1 c.1556C>T p.P519L Substitution - Missense Endometrium COSM1390277 SMARCA4 c.3811T>C p.F1271L Substitution - Missense Large_intestine COSM1284108 CHD6 c.2477A>G p.Y826C Substitution - Missense Autonomic_ganglia COSM5551845 BRWD1 c.6648T>G p.D2216E Substitution - Missense Prostate COSM4621525 DIDO1 c.1600G>A p.D534N Substitution - Missense Large_intestine COSM1565851 ASXL1 c.961C>T p.R321W Substitution - Missense Large_intestine COSM3474963 ASH1L c.5013C>T p.S1671S Substitution - coding silent Skin COSM1476948 APOBEC1 c.579A>G p.L193L Substitution - coding silent Breast COSM484282 PHF3 c.1466A>T p.K489I Substitution - Missense Kidney COSM3017556 SHPRH c.4106G>A p.R1369H Substitution - Missense Large_intestine COSM4880186 BAZ1A c.2885A>G p.N962S Substitution - Missense Prostate COSM1181718 ACTL6B c.1012C>T p.R338C Substitution - Missense Large_intestine COSM5346953 ARID1A c.6286_6287insC p.A2097fs*2 Insertion - Frameshift Endometrium COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1177503 YEATS4 c.619delA p.T207fs*2 Deletion - Frameshift Endometrium COSM4891544 CHD4 c.249G>A p.G83G Substitution - coding silent Upper_aerodigestive_tract COSM4566337 BRD1 c.352_353CC>TT p.P118L Substitution - Missense Skin COSM26493 MSH6 c.741delA p.K247fs*32 Deletion - Frameshift Stomach COSM1027977 ADNP c.673C>T p.R225* Substitution - Nonsense Endometrium COSM1670005 KAT2B c.212G>T p.G71V Substitution - Missense Central_nervous_system COSM5745921 SMYD1 c.478C>T p.P160S Substitution - Missense Pancreas COSM1225335 SETBP1 c.4153G>A p.A1385T Substitution - Missense Large_intestine COSM4615027 TDRD7 c.3254_3255insT p.M1087fs*12 Insertion - Frameshift Large_intestine COSM4397199 BPTF c.572A>T p.E191V Substitution - Missense Skin COSM1240312 SRCAP c.9191C>T p.T3064I Substitution - Missense Oesophagus COSM5582708 TAF1L c.1698C>T p.V566V Substitution - coding silent Skin COSM133047 EZH2 c.394C>T p.P132S Substitution - Missense Skin COSM4777789 KMT2C c.11602_11603insG p.K3869fs*13 Insertion - Frameshift Prostate COSM3365387 PBRM1 c.2392A>T p.R798* Substitution - Nonsense Kidney COSM116110 RAI1 c.4252C>G p.L1418V Substitution - Missense Ovary COSM3829230 SHPRH c.2661G>A p.K887K Substitution - coding silent Breast COSM41736 TET2 c.1526C>G p.S509* Substitution - Nonsense Urinary_tract COSM5392936 PRDM15 c.1204C>T p.L402L Substitution - coding silent Skin COSM3703766 KDM4D c.1560C>T p.A520A Substitution - coding silent Liver COSM1644435 BRD1 c.1163A>G p.H388R Substitution - Missense Salivary_gland COSM260420 DIDO1 c.3154C>T p.R1052* Substitution - Nonsense Large_intestine COSM1293707 SMCHD1 c.3558G>A p.A1186A Substitution - coding silent Stomach COSM1327567 ADNP c.602G>C p.G201A Substitution - Missense Ovary COSM4825216 ZBTB38 c.677C>G p.S226C Substitution - Missense Cervix COSM314847 RNF17 c.597delT p.F201fs*23 Deletion - Frameshift Lung COSM1378186 BRD7 c.1710G>A p.P570P Substitution - coding silent Stomach COSM3554446 CBX6 c.1179G>A p.K393K Substitution - coding silent Skin COSM5357670 JARID2 c.1187C>T p.A396V Substitution - Missense Large_intestine COSM895020 PRDM2 c.3632G>A p.R1211Q Substitution - Missense Endometrium COSM1361963 KMT2D c.14613C>T p.P4871P Substitution - coding silent Large_intestine COSM4983546 HELLS c.2392G>A p.E798K Substitution - Missense Oesophagus COSM133721 DNMT3A c.958C>T p.R320* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1704967 CHD4 c.4091C>T p.S1364F Substitution - Missense Skin COSM1638441 TDRD1 c.2313delT p.F773fs*11 Deletion - Frameshift Stomach COSM3705476 SMYD2 c.1098C>A p.I366I Substitution - coding silent Liver COSM3923411 STK31 c.1893C>T p.S631S Substitution - coding silent Skin COSM2741657 ZBTB4 c.816C>T p.G272G Substitution - coding silent Large_intestine COSM1255482 KDM2A c.3136C>T p.L1046L Substitution - coding silent Oesophagus COSM3618968 PRDM13 c.311G>A p.G104E Substitution - Missense Skin COSM4896783 NCOA3 c.1607C>T p.S536F Substitution - Missense Skin COSM4964357 PRDM5 c.1037G>A p.R346Q Substitution - Missense Pancreas COSM5810083 PRDM16 c.3414G>A p.S1138S Substitution - coding silent Liver COSM1615831 DIDO1 c.5010C>T p.P1670P Substitution - coding silent Liver COSM3686914 BTAF1 c.2633T>C p.I878T Substitution - Missense Large_intestine COSM1299722 MBD6 c.2164C>G p.L722V Substitution - Missense Urinary_tract COSM1372837 MGA c.7871_7872insA p.D2627fs*45 Insertion - Frameshift Large_intestine COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4594767 PHC1 c.369C>T p.P123P Substitution - coding silent Upper_aerodigestive_tract COSM5609772 PBRM1 c.2443C>T p.P815S Substitution - Missense Skin COSM4767657 NCOR1 c.3275G>A p.R1092Q Substitution - Missense Biliary_tract COSM1341426 ARID1A c.5542delG p.D1850fs*33 Deletion - Frameshift Biliary_tract COSM381580 BAG6 c.1570G>T p.G524C Substitution - Missense Lung COSM5480796 KAT6B c.2841G>A p.M947I Substitution - Missense Large_intestine COSM3799546 CHD6 c.6659C>G p.S2220C Substitution - Missense Urinary_tract COSM119772 MLL5 c.4771C>G p.P1591A Substitution - Missense Ovary COSM1409880 SMYD1 c.486C>G p.S162R Substitution - Missense Large_intestine COSM1388386 AP001011.3_ENST00000320876 c.4629C>T p.G1543G Substitution - coding silent Large_intestine COSM1122197 HDAC6 c.2126G>A p.R709H Substitution - Missense Endometrium COSM5972496 BAHCC1 c.7727G>A p.R2576H Substitution - Missense Upper_aerodigestive_tract COSM3754332 TP53BP1 c.1234G>A p.G412S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4385365 KDM6A c.635C>T p.A212V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1093 SMARCB1 c.1158+116insG p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5878755 DNMT3A c.2321A>T p.E774V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM725216 SETD4 c.53G>C p.G18A Substitution - Missense Lung COSM1090 SMARCB1 c.1119-41G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM478998 EP300 c.5279A>G p.K1760R Substitution - Missense Kidney COSM2911481 NCOA1 c.3914C>T p.T1305M Substitution - Missense Stomach COSM221015 KMT2D c.11080C>T p.Q3694* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1023482 KDM3A c.187G>T p.V63L Substitution - Missense Endometrium COSM5895205 CHD3 c.5882-4_5882-3insC p.? Unknown Skin COSM4486465 ZBTB38 c.3057C>T p.F1019F Substitution - coding silent Skin COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM336854 PRDM13 c.311G>T p.G104V Substitution - Missense Lung COSM5808479 MECOM c.99G>T p.K33N Substitution - Missense Liver COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5990675 ARID2 c.1057C>T p.H353Y Substitution - Missense Liver COSM3680609 CHD3 c.4590A>C p.R1530S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4995573 TP53BP1 c.3253C>T p.Q1085* Substitution - Nonsense Upper_aerodigestive_tract COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1383594 HDAC5 c.2793delC p.I932fs*14 Deletion - Frameshift Large_intestine COSM4693841 JMJD1C c.3111A>G p.E1037E Substitution - coding silent Large_intestine COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM999500 KDM4B c.153G>A p.P51P Substitution - coding silent Endometrium COSM677837 TDRD5 c.1665A>T p.E555D Substitution - Missense Lung COSM1639220 CHD4 c.3380G>A p.R1127Q Substitution - Missense Prostate COSM4553411 MYST1 c.58G>A p.E20K Substitution - Missense Skin COSM3640350 BAZ1B c.936C>T p.S312S Substitution - coding silent Skin COSM1497183 ZBTB33 c.101T>C p.V34A Substitution - Missense Kidney COSM4747822 KDM2B c.1520delA p.K507fs*66 Deletion - Frameshift Stomach COSM1288404 TDRD3 c.173G>T p.G58V Substitution - Missense Autonomic_ganglia COSM4093215 NCOA1 c.2240A>G p.Q747R Substitution - Missense Stomach COSM1378946 CTCF c.574_575insA p.D194fs*36 Insertion - Frameshift Large_intestine COSM1079890 TDRD6 c.2251C>T p.L751F Substitution - Missense Endometrium COSM4118110 DHX30 c.1793G>A p.R598H Substitution - Missense Stomach COSM977574 SUZ12 c.2044C>T p.R682C Substitution - Missense Endometrium COSM4030436 SMYD3 c.625A>G p.T209A Substitution - Missense Stomach COSM4099101 NCOA3 c.2883G>A p.L961L Substitution - coding silent Stomach COSM1225796 SIRT3 c.1154A>C p.D385A Substitution - Missense Large_intestine COSM3604098 GABRG1 c.510T>G p.I170M Substitution - Missense Skin COSM4136066 MBD5 c.1260G>C p.G420G Substitution - coding silent Ovary COSM5396453 SP140_ENST00000392045 c.1153_1154GG>AA p.G385K Substitution - Missense Skin COSM1123273 PHF8 c.1141G>C p.G381R Substitution - Missense Endometrium COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM1363340 MBD6 c.946delC p.F318fs*59 Deletion - Frameshift Large_intestine COSM3450156 GLYATL1 c.900A>T p.E300D Substitution - Missense Skin COSM1313695 ATAD2 c.217G>C p.A73P Substitution - Missense Urinary_tract COSM1017131 TET2 c.3555_3555delA p.E1186fs*40 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5518631 NSD1 c.387A>T p.E129D Substitution - Missense Biliary_tract COSM5479269 NCOR1 c.5841G>A p.A1947A Substitution - coding silent Large_intestine COSM4130814 BAHCC1 c.4939A>G p.T1647A Substitution - Missense Thyroid COSM4680240 EED c.188C>A p.P63H Substitution - Missense Large_intestine COSM359056 KDM6B c.2010C>G p.L670L Substitution - coding silent Lung COSM352690 AP001011.3_ENST00000320876 c.2119G>C p.E707Q Substitution - Missense Lung COSM3053479 SMEK2 c.687C>T p.D229D Substitution - coding silent Upper_aerodigestive_tract COSM1642228 ZCWPW2 c.785-9delT p.? Unknown Stomach COSM3190622 HDAC5 c.1418C>T p.T473M Substitution - Missense Stomach COSM1117796 MECP2 c.1014C>A p.T338T Substitution - coding silent Endometrium COSM4694080 MYST1 c.1265T>C p.V422A Substitution - Missense Large_intestine COSM52947 IDH2 c.? p.R172? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5031165 PBRM1 c.? p.D451Y Substitution - Missense Thymus COSM5752244 KMT2C c.13498_13526del29 p.T4500fs*4 Deletion - Frameshift Breast COSM3669907 MYST3 c.458G>A p.R153H Substitution - Missense Liver COSM1012908 ASXL1 c.1879_1880insG p.A627fs*8 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM166345 DNMT3A c.? p.? Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4045240 AICDA c.9-1G>A p.? Unknown Stomach COSM5018255 KDM3B c.4684G>T p.D1562Y Substitution - Missense Soft_tissue COSM233168 PRDM11 c.146C>T p.A49V Substitution - Missense Skin COSM146934 ERCC6 c.2751C>T p.G917G Substitution - coding silent Soft_tissue COSM488407 HDAC6 c.1554C>T p.G518G Substitution - coding silent Kidney COSM5348682 PRDM8 c.1109_1110insT p.F371fs*201 Insertion - Frameshift Liver COSM233236 RBBP7 c.592G>A p.D198N Substitution - Missense Skin COSM3381144 HDAC3 c.315G>A p.S105S Substitution - coding silent Pancreas COSM944176 AICDA c.544-2A>G p.? Unknown Endometrium COSM2759376 PHF20 c.2536G>A p.A846T Substitution - Missense Large_intestine COSM5900745 WHSC1L1 c.1616G>A p.G539E Substitution - Missense Skin COSM96347 ASXL1 c.? p.G646fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM254631 CREBBP c.6983C>T p.S2328L Substitution - Missense Urinary_tract COSM1445551 PHF3 c.3402delA p.V1137fs*1 Deletion - Frameshift Large_intestine COSM4137120 DIDO1 c.5301C>T p.H1767H Substitution - coding silent Ovary COSM3153169 EP300 c.4402delA p.M1470fs*26 Deletion - Frameshift Breast COSM5938435 SIRT2 c.748-8C>T p.? Unknown Skin COSM4415873 RSF1 c.3783T>C p.D1261D Substitution - coding silent Skin COSM5967145 ARID1A c.417_417delC p.A140fs*92 Deletion - Frameshift Salivary_gland COSM3662602 CDYL c.141C>T p.S47S Substitution - coding silent Liver COSM948231 TDRD3 c.1004G>A p.R335H Substitution - Missense Large_intestine COSM3392434 SETD2 c.361T>C p.S121P Substitution - Missense Pancreas COSM3874543 TDRD6 c.6118A>C p.R2040R Substitution - coding silent Stomach COSM1425730 SETD5_ENST00000402198 c.568-1G>T p.? Unknown Stomach COSM4118104 DHX30 c.213A>C p.K71N Substitution - Missense Stomach COSM1608855 CHD2 c.1242A>G p.L414L Substitution - coding silent Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM6000404 ING4 c.18T>G p.Y6* Substitution - Nonsense Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1200967 CHD3 c.5861C>A p.P1954H Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3365204 SMARCC1 c.1894C>G p.L632V Substitution - Missense Kidney COSM5817882 PWWP2B c.1037A>T p.E346V Substitution - Missense Liver COSM1200954 CHD2 c.3662C>T p.S1221F Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1114019 ZBTB33 c.228G>T p.E76D Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1128492 CHD4 c.5361+1G>A p.? Unknown Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM454814 NCOA2 c.1375C>T p.Q459* Substitution - Nonsense Breast COSM4603858 AKAP1 c.963delG p.E322fs*30 Deletion - Frameshift Upper_aerodigestive_tract COSM5894635 MYST2 c.1066C>T p.P356S Substitution - Missense Skin COSM211715 TET2 c.3621G>T p.E1207D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3749492 DOT1L c.4156G>A p.G1386S Substitution - Missense Large_intestine COSM966704 CHD2 c.1369G>T p.E457* Substitution - Nonsense Endometrium COSM1422294 ZCWPW2 c.904G>A p.E302K Substitution - Missense Large_intestine COSM1411473 PHF20 c.1467G>A p.P489P Substitution - coding silent Large_intestine COSM266138 CAMKMT c.787C>T p.R263C Substitution - Missense Large_intestine COSM362669 EHMT1 c.3529G>C p.V1177L Substitution - Missense Lung COSM4031023 ARID1A c.6023T>G p.L2008R Substitution - Missense Stomach COSM43458 TET2 c.3048_3048delT p.C1016fs*17 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4992077 TET2 c.538C>T p.Q180* Substitution - Nonsense Skin COSM3736164 HDAC5 c.1779C>G p.D593E Substitution - Missense Thyroid COSM743058 PHIP c.5046C>G p.I1682M Substitution - Missense Lung COSM1672149 NSD1 c.7875G>T p.W2625C Substitution - Missense Large_intestine COSM5652716 KMT2D c.10021C>T p.Q3341* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1051616 SMARCA5 c.2138A>C p.N713T Substitution - Missense Endometrium COSM246562 PHF12 c.926C>T p.P309L Substitution - Missense Prostate COSM1363344 MBD6 c.2006delC p.P671fs*4 Deletion - Frameshift Large_intestine COSM1319938 GATAD2B c.305A>G p.D102G Substitution - Missense Ovary COSM4729943 SRCAP c.7154C>T p.A2385V Substitution - Missense Large_intestine COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1225799 SIRT6 c.246C>A p.F82L Substitution - Missense Large_intestine COSM1457755 CHD7 c.8956delG p.D2988fs*3 Deletion - Frameshift Large_intestine COSM1583099 DNMT3A c.2150A>G p.N717S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5478390 AICDA c.8+6G>T p.? Unknown Large_intestine COSM3587828 HDAC11 c.506T>G p.V169G Substitution - Missense Skin COSM3921130 KDM1B c.65C>T p.P22L Substitution - Missense Skin COSM3980333 L3MBTL4 c.552+1G>T p.? Unknown Oesophagus COSM3590425 ACTL6A c.33T>C p.V11V Substitution - coding silent Skin COSM309324 ATF7IP c.917T>A p.I306K Substitution - Missense Lung COSM133001 ARID1A c.5548_5548delG p.D1850fs*33 Deletion - Frameshift Large_intestine COSM6004028 DOT1L c.2001C>T p.D667D Substitution - coding silent Prostate COSM4557641 GLYATL1 c.736G>A p.G246R Substitution - Missense Skin COSM1299435 KMT2D c.7419_7419+1GG>TT p.? Unknown Urinary_tract COSM902725 RBBP5 c.373G>A p.V125M Substitution - Missense Prostate COSM133001 ARID1A c.5548_5548delG p.D1850fs*33 Deletion - Frameshift Large_intestine COSM3994639 SHPRH c.4322G>C p.R1441P Substitution - Missense Kidney COSM5719080 NCOA2 c.4384-2A>G p.? Unknown Skin COSM4893315 HCFC1 c.2297C>T p.S766F Substitution - Missense Skin COSM4419332 MGMT c.587G>T p.G196V Substitution - Missense Prostate COSM5643331 BRDT c.327delC p.N109fs*14 Deletion - Frameshift Oesophagus COSM21734 PCNA c.262A>G p.I88V Substitution - Missense Lung COSM40845 PHF21A c.400C>T p.L134L Substitution - coding silent Central_nervous_system COSM51226 ARID1A c.3575_3575delA p.N1192fs*14 Deletion - Frameshift Ovary COSM51228 ARID1A c.3223_3223delG p.E1075fs*18 Deletion - Frameshift Ovary COSM50954 EP400 c.147G>A p.S49S Substitution - coding silent Breast COSM79384 KMT2A c.1504G>T p.E502* Substitution - Nonsense Ovary COSM88753 CREBBP c.4506G>T p.W1502C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM211618 TET2 c.3287_3288delCA p.T1096fs*7 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM232659 L3MBTL3 c.2080C>T p.L694F Substitution - Missense Skin COSM232032 CHD3 c.3128C>T p.P1043L Substitution - Missense Skin COSM251145 SMEK2 c.961A>C p.T321P Substitution - Missense Liver COSM263649 SHPRH c.1609G>T p.E537* Substitution - Nonsense Large_intestine COSM285194 SMARCA2 c.232G>A p.D78N Substitution - Missense Large_intestine COSM314818 RING1 c.512G>T p.G171V Substitution - Missense Lung COSM315862 TDRKH c.920A>T p.Y307F Substitution - Missense Lung COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Large_intestine COSM304427 PHF23 c.347T>G p.F116C Substitution - Missense Large_intestine COSM308454 PBRM1 c.3398delA p.D1133fs*26 Deletion - Frameshift Kidney COSM307322 ARID1A c.2019delG p.S674fs*68 Deletion - Frameshift Liver COSM364043 PHIP c.4360G>T p.A1454S Substitution - Missense Lung COSM360908 SETD5_ENST00000402198 c.4161G>T p.R1387R Substitution - coding silent Lung COSM374669 KDM4C c.1115+1G>T p.? Unknown Lung COSM368357 PRDM2 c.3989C>T p.T1330I Substitution - Missense Lung COSM393712 PRDM9 c.2275G>A p.D759N Substitution - Missense Kidney COSM390393 PYGO2 c.409C>G p.P137A Substitution - Missense Lung COSM1496260 ARID1B c.4114G>A p.D1372N Substitution - Missense Kidney COSM426746 RERE c.2475G>A p.P825P Substitution - coding silent Thyroid COSM430815 ATF7IP c.3706G>A p.G1236S Substitution - Missense Breast COSM452425 TIF1 c.831G>A p.L277L Substitution - coding silent Breast COSM468436 KMT2D c.12901G>A p.A4301T Substitution - Missense Kidney COSM467894 SIRT4 c.239G>T p.G80V Substitution - Missense Kidney COSM681231 DMAP1 c.1307T>G p.I436S Substitution - Missense Lung COSM682727 BRDT c.234A>T p.T78T Substitution - coding silent Lung COSM695009 APOBEC1 c.97C>T p.R33C Substitution - Missense Endometrium COSM1047219 SFMBT1 c.1621G>A p.V541I Substitution - Missense Endometrium COSM939277 KDM5A c.2049T>C p.C683C Substitution - coding silent Endometrium COSM753557 KIAA1045 c.305C>A p.P102H Substitution - Missense Lung COSM920009 SFMBT2 c.1878C>T p.C626C Substitution - coding silent Endometrium COSM706858 MBTD1 c.241C>A p.P81T Substitution - Missense Lung COSM1600258 NCOA1 c.2606C>A p.P869H Substitution - Missense Central_nervous_system COSM969207 JMJD5 c.698G>A p.R233Q Substitution - Missense Endometrium COSM1073478 EYA4 c.278-1G>C p.? Unknown Endometrium COSM1180829 CREBBP c.3250delA p.I1084fs*15 Deletion - Frameshift Large_intestine COSM1223954 RNF2 c.128G>A p.R43Q Substitution - Missense Large_intestine COSM1369654 BAZ1A c.1427delT p.F476fs*3 Deletion - Frameshift Large_intestine COSM1388993 MBD1 c.423_424delAG p.D143fs*29 Deletion - Frameshift Large_intestine COSM1382744 PCGF2 c.781_783delGAC p.D261delD Deletion - In frame Large_intestine COSM1434735 HDAC3 c.838G>A p.V280I Substitution - Missense Stomach COSM1420705 TBL1XR1 c.728G>T p.G243V Substitution - Missense Large_intestine COSM1427017 PHF17 c.1438C>T p.R480W Substitution - Missense Large_intestine COSM1448359 TRIM24 c.1171C>T p.R391C Substitution - Missense Skin COSM1439363 PRDM13 c.1904G>A p.C635Y Substitution - Missense Large_intestine COSM1366030 RNF17 c.1012G>A p.D338N Substitution - Missense Large_intestine COSM1478721 GTF3C1 c.3737A>C p.Y1246S Substitution - Missense Breast COSM1579670 PRMT10 c.1858delG p.D620fs*18 Deletion - Frameshift Central_nervous_system COSM1632297 CHD6 c.3878-6G>C p.? Unknown Liver COSM1682746 BRWD3 c.1973A>C p.Q658P Substitution - Missense Large_intestine COSM1683736 PRDM2 c.5000_5001delAG p.E1667fs*34 Deletion - Frameshift Kidney COSM1694080 WHSC1 c.2480C>T p.A827V Substitution - Missense Skin COSM1699041 ACTL6B c.1111C>T p.P371S Substitution - Missense Skin COSM1716414 CTCF c.610_611insA p.T204fs*26 Insertion - Frameshift Endometrium COSM1716414 CTCF c.610_611insA p.T204fs*26 Insertion - Frameshift Endometrium COSM1662755 MGA c.3439G>T p.E1147* Substitution - Nonsense Kidney COSM1743838 MUM1 c.578T>A p.L193H Substitution - Missense Biliary_tract COSM1997433 ACTA1 c.886T>C p.Y296H Substitution - Missense Large_intestine COSM2002869 ATF7IP c.3169C>G p.P1057A Substitution - Missense Skin COSM2059751 RNF134 c.388C>G p.P130A Substitution - Missense Large_intestine COSM2067827 ARID2 c.2276C>T p.S759F Substitution - Missense Large_intestine COSM2270250 INOC1 c.623A>G p.K208R Substitution - Missense Large_intestine COSM2739001 NCOR1 c.4331T>C p.V1444A Substitution - Missense Large_intestine COSM2740197 RAI1 c.1786C>T p.R596W Substitution - Missense Stomach COSM2889270 ASXL1 c.2131A>G p.T711A Substitution - Missense Large_intestine COSM3113521 SETD1A c.1926G>A p.P642P Substitution - coding silent Stomach COSM3126258 SMARCA5 c.1515C>T p.F505F Substitution - coding silent Cervix COSM3296126 MBD5 c.1276G>A p.V426I Substitution - Missense Upper_aerodigestive_tract COSM3290857 ACTR5 c.779T>C p.L260S Substitution - Missense Large_intestine COSM3495805 BAZ1A c.3520C>T p.H1174Y Substitution - Missense Skin COSM3417099 YEATS4 c.289G>A p.E97K Substitution - Missense Large_intestine COSM3416255 RSF1 c.216G>T p.L72F Substitution - Missense Large_intestine COSM3461605 KMT2D c.2221C>T p.P741S Substitution - Missense Skin COSM3474977 ASH1L c.2096G>A p.S699N Substitution - Missense Skin COSM3622271 ARID1B c.2480G>A p.R827Q Substitution - Missense Skin COSM3620515 L3MBTL3 c.197T>A p.V66E Substitution - Missense Skin COSM3621292 SHPRH c.4475C>T p.S1492L Substitution - Missense Skin COSM3625708 DAXX c.1262G>A p.G421E Substitution - Missense Skin COSM3598200 MINA c.661G>C p.V221L Substitution - Missense Skin COSM3560215 SCML2 c.475T>A p.L159I Substitution - Missense Skin COSM3515534 PHF12 c.1338T>C p.H446H Substitution - coding silent Skin COSM3524752 AP001011.3_ENST00000320876 c.4425C>T p.N1475N Substitution - coding silent Skin COSM3660583 SETD2 c.4349A>T p.E1450V Substitution - Missense Liver COSM3704850 TRIM33 c.2927A>G p.H976R Substitution - Missense Liver COSM3704869 TTF2 c.8A>T p.E3V Substitution - Missense Liver COSM3705284 TDRD5 c.2343+9C>T p.? Unknown Liver COSM3704148 ARID2 c.4844T>G p.F1615C Substitution - Missense Liver COSM3723659 SMYD4 c.1621T>C p.S541P Substitution - Missense Upper_aerodigestive_tract COSM3709083 ATF2 c.228G>A p.L76L Substitution - coding silent Liver COSM3749370 SETD6 c.193T>C p.L65L Substitution - coding silent Large_intestine COSM3750308 PRDM2 c.1008G>A p.E336E Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3767009 PHF8 c.1343T>C p.V448A Substitution - Missense Liver COSM3963467 ASXL1 c.1238G>A p.R413Q Substitution - Missense Lung COSM4004513 RSF1 c.3251G>A p.R1084Q Substitution - Missense Ovary COSM4034372 PHRF1 c.696G>A p.A232A Substitution - coding silent Stomach COSM3994206 NSD1 c.3642T>C p.L1214L Substitution - coding silent Kidney COSM3999533 TP53BP1 c.177+7G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4120587 SETD5_ENST00000402198 c.2743C>T p.L915L Substitution - coding silent Stomach COSM4060706 CREBBP c.4624G>A p.G1542S Substitution - Missense Stomach COSM4128852 GTF3C1 c.227A>T p.E76V Substitution - Missense Thyroid COSM4160658 TCF19 c.657A>C p.P219P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4383809 TET2 c.1480G>A p.G494R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4406668 KMT2C c.8683C>T p.Q2895* Substitution - Nonsense Pancreas COSM4391790 BAZ1B c.1796C>A p.P599H Substitution - Missense Prostate COSM4596701 ZMYND8 c.3293C>T p.S1098F Substitution - Missense Upper_aerodigestive_tract COSM4602848 BPTF c.8028_8029insCCTCCAGCC p.P2684_P2685insAPP Insertion - In frame Haematopoietic_and_lymphoid_tissue COSM4419702 NSD1 c.1482C>T p.C494C Substitution - coding silent Soft_tissue COSM4426788 BAP1 c.608_609delCA p.T203fs*39 Deletion - Frameshift Oesophagus COSM4464416 LMNB2 c.1272C>T p.P424P Substitution - coding silent Skin COSM4719543 PWWP2B c.158C>T p.P53L Substitution - Missense Large_intestine COSM4732003 TAF3 c.2553G>A p.T851T Substitution - coding silent Large_intestine COSM4703529 MTF2 c.76A>C p.T26P Substitution - Missense Large_intestine COSM4736038 TRIM33 c.2986delA p.I996fs*2 Deletion - Frameshift Large_intestine COSM4705938 NCOA1 c.1391G>A p.S464N Substitution - Missense Large_intestine COSM4708355 NSD1 c.6850G>T p.E2284* Substitution - Nonsense Large_intestine COSM4732917 TDRD7 c.245G>T p.R82I Substitution - Missense Large_intestine COSM4768113 WHSC1 c.3374A>G p.D1125G Substitution - Missense Biliary_tract COSM4623483 NCOR1 c.3337C>T p.R1113* Substitution - Nonsense Large_intestine COSM4626121 ATAD2 c.1572C>T p.R524R Substitution - coding silent Large_intestine COSM4747396 BPTF c.2590delA p.E867fs*16 Deletion - Frameshift Breast COSM4883102 DIDO1 c.5810C>A p.A1937D Substitution - Missense Upper_aerodigestive_tract COSM4910253 JMJD6 c.1012A>G p.I338V Substitution - Missense Liver COSM4833839 ZBTB38 c.3261C>T p.I1087I Substitution - coding silent Cervix COSM4846299 TCF20 c.5398C>T p.R1800W Substitution - Missense Cervix COSM4848361 CHD9 c.5650G>C p.E1884Q Substitution - Missense Cervix COSM5019999 BRD4 c.360G>T p.W120C Substitution - Missense Soft_tissue COSM5078707 CHD9 c.4209+8T>G p.? Unknown Large_intestine COSM5053357 ARID1A c.4634G>A p.W1545* Substitution - Nonsense Stomach COSM5348742 SETD2 c.6050_6051insTCCT p.E2017fs*7 Insertion - Frameshift Liver COSM5389692 SIRT2 c.932_933CC>TT p.S311F Substitution - Missense Skin COSM5396058 IDH1 c.542G>A p.G181E Substitution - Missense Skin COSM5415380 KMT2C c.12707T>C p.V4236A Substitution - Missense Prostate COSM5500684 EPC2 c.300C>T p.F100F Substitution - coding silent Biliary_tract COSM5478884 TP53BP1 c.3800G>T p.R1267I Substitution - Missense Large_intestine COSM5449692 ING5 c.618+2T>C p.? Unknown Large_intestine COSM5458362 ACTA1 c.586A>G p.T196A Substitution - Missense Large_intestine COSM5748960 ZMYM3 c.2206C>T p.R736C Substitution - Missense Pancreas COSM5607291 ASXL1 c.3122delC p.P1042fs*5 Deletion - Frameshift Skin COSM5609394 KMT2A c.4709C>A p.P1570H Substitution - Missense Skin COSM5600370 RNF17 c.344A>G p.K115R Substitution - Missense Skin COSM5752502 PHF6 c.223delA p.R76fs*5 Deletion - Frameshift Breast COSM5553760 SFMBT2 c.2303A>G p.E768G Substitution - Missense Prostate COSM5762909 PBRM1 c.4585C>T p.R1529C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5879045 TET2 c.5250_5251insTTTT p.Y1751fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5818245 AKAP1 c.536A>G p.Q179R Substitution - Missense Liver COSM5944377 ASXL1 c.1888_1892delCACCA p.H630fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5946200 KAT6B c.3933C>A p.V1311V Substitution - coding silent Pancreas COSM5920016 TRDMT1 c.1063C>T p.P355S Substitution - Missense Skin COSM5965943 PHF21B c.620A>C p.H207P Substitution - Missense Breast COSM5965036 TCF20 c.1906C>G p.Q636E Substitution - Missense Breast COSM6019334 ARID1A c.1801C>T p.Q601* Substitution - Nonsense Ovary COSM5974037 ACTR5 c.761A>T p.E254V Substitution - Missense Upper_aerodigestive_tract COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM166348 DNMT3A c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4972323 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM5753361 PBRM1 c.? p.?fs*? Frameshift Kidney COSM1666676 SETBP1 c.? p.I871T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4054834 TP53BP1 c.4063C>T p.R1355* Substitution - Nonsense Stomach COSM1461712 SMARCA2 c.1424A>C p.K475T Substitution - Missense Large_intestine COSM5999997 PHF21A c.1673T>A p.I558N Substitution - Missense Prostate COSM3656604 SMARCA2 c.4108C>T p.R1370C Substitution - Missense Large_intestine COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM1317254 ATRX c.671C>T p.A224V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4411315 ASXL1 c.1636C>A p.Q546K Substitution - Missense Kidney COSM5344134 CBX6 c.767G>A p.G256D Substitution - Missense Large_intestine COSM1714477 PHF21B c.1471G>A p.G491S Substitution - Missense Skin COSM122851 EP300 c.4195G>A p.D1399N Substitution - Missense Oesophagus COSM1071560 PRDM13 c.68G>A p.R23H Substitution - Missense Endometrium COSM710860 DOT1L c.399C>G p.P133P Substitution - coding silent Lung COSM85983 ATRX c.576G>C p.L192F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3720898 ATAD2B_ENST00000238789 c.2533G>A p.E845K Substitution - Missense Upper_aerodigestive_tract COSM3685189 ACTB c.124-1G>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41738 TET2 c.922G>A p.A308T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3691043 CHD9 c.4616G>A p.C1539Y Substitution - Missense Large_intestine COSM4955547 MLL5 c.5470G>A p.V1824I Substitution - Missense Liver COSM1735762 TET2 c.2737C>T p.Q913* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4689180 GTF3C1 c.4454C>T p.T1485M Substitution - Missense Large_intestine COSM4478702 KDM4D c.225C>T p.L75L Substitution - coding silent Skin COSM917774 EPC1 c.671G>A p.R224H Substitution - Missense Endometrium COSM380545 PHF21B c.639C>T p.L213L Substitution - coding silent Lung COSM5809348 KMT2D c.6764G>T p.G2255V Substitution - Missense Liver COSM285280 SP140 c.156G>T p.E52D Substitution - Missense Large_intestine COSM1621455 EHMT2 c.613A>G p.I205V Substitution - Missense Liver COSM329171 BAZ2A_ENST00000379441 c.977A>G p.E326G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM896621 TDRD10 c.847G>T p.D283Y Substitution - Missense Endometrium COSM3365356 SETD2 c.3206+1G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4689520 HAT1 c.457G>A p.G153R Substitution - Missense Large_intestine COSM4623770 RERE c.2211G>T p.Q737H Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM4976563 DNMT3L c.683T>C p.V228A Substitution - Missense Oesophagus COSM4692730 INTS12 c.41_42insT p.L14fs*12 Insertion - Frameshift Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3386190 KDM4A c.2914G>T p.V972F Substitution - Missense Pancreas COSM5990206 HNF1A c.732A>T p.R244S Substitution - Missense Liver COSM3659719 PHF2 c.2279C>T p.S760L Substitution - Missense Skin COSM87153 TET2 c.4097G>A p.R1366H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3454809 KDM4D c.1157C>T p.P386L Substitution - Missense Skin COSM4943323 DAXX c.223A>G p.K75E Substitution - Missense Liver COSM3439593 JMJD1C c.136C>T p.R46C Substitution - Missense Skin COSM1307610 DIDO1 c.4236G>C p.R1412S Substitution - Missense Urinary_tract COSM3733394 SMARCA4 c.4267A>G p.T1423A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3420289 MGA c.2422G>T p.E808* Substitution - Nonsense Large_intestine COSM3861879 EHMT2 c.1128G>T p.V376V Substitution - coding silent Stomach COSM5003292 PHF3 c.4817A>G p.Q1606R Substitution - Missense Pancreas COSM4072886 L3MBTL4 c.1465G>A p.G489S Substitution - Missense Stomach COSM5734820 KMT2C c.6769C>T p.R2257* Substitution - Nonsense Pancreas COSM362753 DPF2 c.447C>T p.T149T Substitution - coding silent Lung COSM4597323 CBX4 c.712A>C p.K238Q Substitution - Missense Upper_aerodigestive_tract COSM488388 PHF16 c.1966A>C p.K656Q Substitution - Missense Kidney COSM4159839 PRDM9 c.2042C>G p.T681S Substitution - Missense Upper_aerodigestive_tract COSM3723646 SMARCC2 c.986G>A p.R329H Substitution - Missense Upper_aerodigestive_tract COSM1186196 BRPF1 c.2468C>T p.T823M Substitution - Missense Lung COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM222521 HDAC1 c.1363G>A p.E455K Substitution - Missense Skin COSM919456 JMJD1C c.5737A>C p.N1913H Substitution - Missense Endometrium COSM1307309 NCOA6 c.258G>A p.Q86Q Substitution - coding silent Urinary_tract COSM756936 SMC1A c.953C>T p.S318F Substitution - Missense Lung COSM3545801 PHF20 c.1316G>A p.G439E Substitution - Missense Skin COSM977052 PHF12 c.2058C>T p.N686N Substitution - coding silent Endometrium COSM1630066 NCOR1 c.515C>T p.S172L Substitution - Missense Upper_aerodigestive_tract COSM4635334 SHPRH c.1815C>T p.S605S Substitution - coding silent Large_intestine COSM5589224 TRRAP c.8844C>T p.D2948D Substitution - coding silent Skin COSM1301113 MGA c.400C>T p.R134C Substitution - Missense Urinary_tract COSM745877 KMT2C c.7807A>T p.R2603* Substitution - Nonsense Lung COSM1626415 SETDB1 c.3642T>G p.L1214L Substitution - coding silent Liver COSM266735 JMJD1C c.5189T>C p.M1730T Substitution - Missense Large_intestine COSM4797025 ARID1B c.2400G>A p.G800G Substitution - coding silent Liver COSM3589873 MECOM c.1567C>T p.P523S Substitution - Missense Skin COSM4482498 PHF20 c.2613C>T p.L871L Substitution - coding silent Skin COSM5016609 DNMT1 c.1998_1999insAAA p.K666_C667insK Insertion - In frame Kidney COSM3723550 SIRT1 c.620C>T p.P207L Substitution - Missense Upper_aerodigestive_tract COSM5547110 ARID1B c.2476_2483delGGACGAAT p.G826fs*42 Deletion - Frameshift Prostate COSM5880060 PHF6 c.374+2T>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM254610 CHD6 c.6481C>A p.H2161N Substitution - Missense Urinary_tract COSM6003893 TRIM28 c.2205T>C p.G735G Substitution - coding silent Prostate COSM1675424 BTAF1 c.3845A>C p.K1282T Substitution - Missense Large_intestine COSM3761723 HDGFL1 c.260C>T p.T87M Substitution - Missense Large_intestine COSM3592022 KAT2B c.557T>A p.V186D Substitution - Missense Skin COSM255311 SMARCA4 c.3304T>C p.F1102L Substitution - Missense Central_nervous_system COSM5730244 KIAA2026_ENST00000399933 c.3618_3621delTGAG p.S1206fs*36 Deletion - Frameshift Skin COSM5518833 ASH2L c.542G>A p.R181Q Substitution - Missense Biliary_tract COSM43412 TET2 c.?_?del? p.?fs Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4884551 NIPBL c.6619A>T p.M2207L Substitution - Missense Upper_aerodigestive_tract COSM53015 EZH2 c.727A>C p.K243Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1372839 MGA c.8728C>T p.R2910W Substitution - Missense Large_intestine COSM461489 ATAD2 c.117C>G p.L39L Substitution - coding silent Cervix COSM4049925 PRMT5 c.829T>C p.F277L Substitution - Missense Stomach COSM1076166 PHF10 c.10G>T p.E4* Substitution - Nonsense Endometrium COSM4642009 SETD1A c.3771C>G p.A1257A Substitution - coding silent Large_intestine COSM339871 JARID2 c.815C>T p.A272V Substitution - Missense Lung COSM5823454 TRIM66 c.3085G>A p.A1029T Substitution - Missense Liver COSM5134498 YY1 c.682_683insA p.D231fs*3 Insertion - Frameshift Large_intestine COSM24925 HNF1A c.747_764del18 p.Q250_G255delQAQGLG Deletion - In frame Liver COSM1161914 KDM5C c.4213G>C p.E1405Q Substitution - Missense Kidney COSM150251 STK31 c.1417-10C>A p.? Unknown Large_intestine COSM4463973 KMT2D c.12326C>T p.P4109L Substitution - Missense Skin COSM3674287 KDM3B c.1127G>T p.G376V Substitution - Missense Prostate COSM4555038 PRDM5 c.63G>A p.M21I Substitution - Missense Skin COSM382811 CTCF c.1134G>T p.P378P Substitution - coding silent Lung COSM4383756 TET2 c.373delT p.F125fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4164212 KMT2C c.4660G>C p.D1554H Substitution - Missense Ovary COSM1623349 TRRAP c.1536A>C p.P512P Substitution - coding silent Liver COSM2068777 HDAC7 c.1640G>A p.R547H Substitution - Missense Stomach COSM5487143 KMT2D c.15419G>A p.G5140E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5903961 ASXL3 c.227C>T p.S76F Substitution - Missense Skin COSM1080046 CDYL c.245G>A p.R82Q Substitution - Missense Endometrium COSM4596615 TCF20 c.2281C>T p.H761Y Substitution - Missense Upper_aerodigestive_tract COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6005349 SUV39H1 c.1162C>T p.L388F Substitution - Missense Prostate COSM4851872 CHD6 c.719G>A p.R240K Substitution - Missense Cervix COSM3947400 PRDM9 c.2058C>A p.H686Q Substitution - Missense Lung COSM449383 NSD1 c.7317G>A p.L2439L Substitution - coding silent Lung COSM4616127 BRD8 c.2465delA p.E822fs*58 Deletion - Frameshift Large_intestine COSM460042 BRD4 c.387C>A p.F129L Substitution - Missense Cervix COSM3823577 KAT2B c.2220+2T>G p.? Unknown Breast COSM5600274 PRDM15 c.2619C>T p.R873R Substitution - coding silent Skin COSM4064153 NCOR1 c.4667C>T p.A1556V Substitution - Missense Stomach COSM3986277 PHRF1 c.1090T>C p.S364P Substitution - Missense Kidney COSM4385257 EP300 c.4145G>A p.G1382D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1422138 KAT2B c.1425G>A p.L475L Substitution - coding silent Large_intestine COSM4586102 PRDM13 c.2020C>G p.P674A Substitution - Missense Bone COSM606193 EYA1 c.1632G>T p.R544S Substitution - Missense Stomach COSM5956226 MTA1 c.653+3G>A p.? Unknown Upper_aerodigestive_tract COSM1363039 SMARCC2 c.3128delC p.P1043fs*18 Deletion - Frameshift Large_intestine COSM279015 ASXL3 c.179T>C p.F60S Substitution - Missense Large_intestine COSM4614197 PRDM15 c.1692delG p.C565fs*22 Deletion - Frameshift Large_intestine COSM24617 SMARCB1 c.1_628del628 p.? Unknown Soft_tissue COSM5701091 PRMT1 c.848_849insC p.Y285fs*>64 Insertion - Frameshift Soft_tissue COSM5715604 BRPF3 c.3343C>T p.P1115S Substitution - Missense Skin COSM3751679 TRDMT1 c.168G>A p.T56T Substitution - coding silent Thyroid COSM1642409 PHF17 c.1622G>A p.G541D Substitution - Missense Stomach COSM190346 SMARCD1 c.582C>A p.F194L Substitution - Missense Endometrium COSM4876862 UHRF2 c.2247C>T p.F749F Substitution - coding silent Prostate COSM383821 ATF7IP c.3752G>T p.R1251L Substitution - Missense Lung COSM1318281 UHRF1 c.861G>T p.V287V Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3427660 SETD2 c.2173A>G p.S725G Substitution - Missense Large_intestine COSM4672091 CHD7 c.7544G>T p.R2515M Substitution - Missense Large_intestine COSM5985148 DNMT3A c.2617C>A p.H873N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1708079 TP53BP1 c.5287G>A p.E1763K Substitution - Missense Skin COSM5031123 MLL5 c.2645C>T p.S882L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5389846 SIRT6 c.489C>T p.G163G Substitution - coding silent Skin COSM4991486 SMARCB1 c.664C>T p.L222F Substitution - Missense Skin COSM5046804 KMT2D c.9585_9586insG p.P3196fs*2 Insertion - Frameshift Oesophagus COSM3053502 SMEK2 c.393G>A p.L131L Substitution - coding silent Upper_aerodigestive_tract COSM1327568 ADNP c.1313G>T p.G438V Substitution - Missense Ovary COSM1026313 PHF20 c.2371C>A p.H791N Substitution - Missense Endometrium COSM3931546 HNF1A c.1375C>T p.L459L Substitution - coding silent Liver COSM3412551 TRRAP c.11236C>T p.R3746W Substitution - Missense Liver COSM277279 SIRT4 c.547G>T p.E183* Substitution - Nonsense Large_intestine COSM394655 SETD1A c.2031C>T p.P677P Substitution - coding silent Lung COSM4497315 SMARCA4 c.4852C>T p.R1618* Substitution - Nonsense Skin COSM4819757 EP400 c.995C>G p.S332C Substitution - Missense Cervix COSM272705 FXR1 c.364delA p.N124fs*14 Deletion - Frameshift Large_intestine COSM5031049 KDM6A c.3956G>A p.W1319* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM311711 HCFC2 c.1833G>C p.V611V Substitution - coding silent Soft_tissue COSM4689703 HDAC7 c.2062G>A p.A688T Substitution - Missense Large_intestine COSM22590 MEN1 c.242delC p.D82fs*37 Deletion - Frameshift Parathyroid COSM936093 SETD1B c.1858G>A p.A620T Substitution - Missense Endometrium COSM12943 TRRAP c.8015C>T p.P2672L Substitution - Missense Lung COSM5417145 EP400 c.2535G>A p.W845* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1720389 SETD2 c.5204C>T p.S1735F Substitution - Missense Skin COSM1686524 L3MBTL3 c.582+1G>A p.? Unknown Skin COSM5023449 CHD2 c.4951G>A p.G1651S Substitution - Missense Bone COSM1420546 PHC3 c.1288delC p.Q430fs*2 Deletion - Frameshift Large_intestine COSM87190 TET2 c.5696T>C p.L1899P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1373023 TP53BP1 c.2397G>T p.E799D Substitution - Missense Large_intestine COSM6013356 SMARCA2 c.2322C>G p.G774G Substitution - coding silent Skin COSM21486 HNF1A c.872delC p.P291fs*51 Deletion - Frameshift Large_intestine COSM1449440 KMT2C c.5243A>C p.E1748A Substitution - Missense Large_intestine COSM897117 LMNA c.748G>A p.A250T Substitution - Missense Endometrium COSM5483833 PHC2 c.1311C>T p.P437P Substitution - coding silent Large_intestine COSM4612431 HDAC4 c.2399delC p.P800fs*30 Deletion - Frameshift Large_intestine COSM1714630 MSL3 c.877C>T p.P293S Substitution - Missense Skin COSM1255649 KIAA1045 c.587C>T p.T196I Substitution - Missense Oesophagus COSM1225339 SETBP1 c.2146A>G p.S716G Substitution - Missense Large_intestine COSM4398677 PRDM11 c.964G>A p.D322N Substitution - Missense Skin COSM4020105 PRMT6 c.101C>T p.T34I Substitution - Missense Stomach COSM3935075 ERCC6 c.4041A>T p.T1347T Substitution - coding silent Oesophagus COSM5344143 ATAD2B_ENST00000238789 c.2065A>T p.N689Y Substitution - Missense Large_intestine COSM3751836 ERCC6 c.3637A>G p.R1213G Substitution - Missense Soft_tissue COSM3907584 KIAA2026_ENST00000399933 c.614C>T p.T205M Substitution - Missense Stomach COSM3715468 BAG6 c.1777C>T p.Q593* Substitution - Nonsense Upper_aerodigestive_tract COSM292457 SIRT2 c.85G>A p.G29R Substitution - Missense Large_intestine COSM989557 L3MBTL4 c.192C>T p.V64V Substitution - coding silent Endometrium COSM1264946 SCML2 c.905A>C p.K302T Substitution - Missense Oesophagus COSM5609769 PBRM1 c.3773_3774ins15 p.S1264_D1265insRYNES Insertion - In frame Skin COSM1367541 TDRD3 c.473G>C p.R158T Substitution - Missense Large_intestine COSM1602714 RERE c.1255A>C p.R419R Substitution - coding silent Liver COSM1491300 BRWD3 c.789T>C p.H263H Substitution - coding silent Breast COSM3525865 SETBP1 c.2541C>T p.S847S Substitution - coding silent Skin COSM3296151 MBD5 c.1828G>A p.G610S Substitution - Missense Upper_aerodigestive_tract COSM5347041 ARID1A c.446G>A p.G149D Substitution - Missense Endometrium COSM4966847 CHD4 c.2744T>G p.L915R Substitution - Missense Prostate COSM266762 KIAA1045 c.261C>T p.G87G Substitution - coding silent Large_intestine COSM1627036 ZMYM4 c.4060+2T>C p.? Unknown Liver COSM4989854 IKZF1 c.? p.M476>PR Complex - insertion inframe Haematopoietic_and_lymphoid_tissue COSM1483641 CHD6 c.3711C>A p.Y1237* Substitution - Nonsense Breast COSM1225437 SFMBT2 c.2315G>A p.R772Q Substitution - Missense Large_intestine COSM1639816 ARID1A c.3156T>A p.Y1052* Substitution - Nonsense Stomach COSM41894 TET2 c.? p.P1962L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144669 PHF6 c.898A>G p.T300A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1673965 EYA1 c.981G>A p.W327* Substitution - Nonsense Large_intestine COSM238566 BAP1 c.680G>A p.R227H Substitution - Missense Prostate COSM30492 SETD2 c.3383G>A p.C1128Y Substitution - Missense Kidney COSM435525 CTCF c.61G>T p.E21* Substitution - Nonsense Breast COSM690313 SUV420H1 c.2551C>T p.P851S Substitution - Missense Skin COSM256422 BTAF1 c.3241G>T p.E1081* Substitution - Nonsense Large_intestine COSM3891424 DNMT1 c.3974C>T p.P1325L Substitution - Missense Skin COSM96347 ASXL1 c.? p.G646fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM4767619 KMT2D c.15574G>C p.D5192H Substitution - Missense Biliary_tract COSM5633328 MUM1 c.292G>T p.V98F Substitution - Missense Oesophagus COSM1093581 TRRAP c.2282G>T p.R761L Substitution - Missense Endometrium COSM1640116 ARID4A c.1259delA p.D423fs*2 Deletion - Frameshift Stomach COSM216444 LMNB2 c.1571C>T p.S524L Substitution - Missense Pancreas COSM42008 TET2 c.3895A>G p.K1299E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3842808 TCF20 c.4106C>T p.S1369F Substitution - Missense Small_intestine COSM748353 TRRAP c.1309G>C p.E437Q Substitution - Missense Lung COSM2808621 SMCHD1 c.2059C>T p.R687C Substitution - Missense Large_intestine COSM161460 HCFC1 c.1578C>T p.S526S Substitution - coding silent Breast COSM3816034 MGA c.7531C>G p.L2511V Substitution - Missense Breast COSM4951286 WHSC1L1 c.800A>C p.K267T Substitution - Missense Liver COSM351125 BRD8 c.2680C>G p.L894V Substitution - Missense Lung COSM1686251 NCOR1 c.467C>T p.P156L Substitution - Missense Skin COSM97816 EP300 c.4154G>T p.C1385F Substitution - Missense Upper_aerodigestive_tract COSM96441 EP300 c.2779_2780insC p.T928fs*21 Insertion - Frameshift Large_intestine COSM5777477 NIPBL c.976C>T p.Q326* Substitution - Nonsense Breast COSM3123098 HDAC11 c.734C>T p.S245F Substitution - Missense Skin COSM4480327 CBX8 c.240C>T p.L80L Substitution - coding silent Skin COSM170344 ASH1L c.6217C>T p.R2073C Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5383001 SETD3 c.166C>T p.L56L Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4385675 IDH2 c.428_429insG p.T146fs*126 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM88748 CREBBP c.4337G>A p.R1446H Substitution - Missense Stomach COSM1049756 TET2 c.2546C>T p.T849I Substitution - Missense Endometrium COSM3383085 BTAF1 c.1725C>T p.S575S Substitution - coding silent Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1670260 PBRM1 c.4354C>T p.Q1452* Substitution - Nonsense Lung COSM485218 STK31 c.1399C>T p.R467C Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4100180 DIDO1 c.4685A>T p.Q1562L Substitution - Missense Stomach COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5573633 UHRF1 c.1428G>T p.A476A Substitution - coding silent Prostate COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4819032 PSIP1 c.452G>A p.R151K Substitution - Missense Cervix COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM939513 ARID2 c.4535_4545del11 p.C1512fs*1 Deletion - Frameshift Endometrium COSM450464 L3MBTL3 c.1114C>T p.R372* Substitution - Nonsense Breast COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM1209346 HCFC1 c.1597C>T p.R533C Substitution - Missense Large_intestine COSM3461559 KMT2D c.7132C>T p.P2378S Substitution - Missense Skin COSM33732 IDH2 c.515G>T p.R172M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3304524 KMT2C c.1576C>T p.R526C Substitution - Missense Skin COSM1457755 CHD7 c.8956delG p.D2988fs*3 Deletion - Frameshift Large_intestine COSM4570704 MLL5 c.3084T>A p.D1028E Substitution - Missense Skin COSM5609763 PBRM1 c.4340G>A p.G1447E Substitution - Missense Skin COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5898522 PRMT7 c.1909-7C>T p.? Unknown Skin COSM4930489 JARID2 c.1381A>G p.K461E Substitution - Missense Liver COSM990751 SMARCA4 c.3005C>T p.A1002V Substitution - Missense Stomach COSM5477694 GLYATL1 c.851A>G p.K284R Substitution - Missense Large_intestine COSM4536719 PRDM9 c.2337G>A p.R779R Substitution - coding silent Skin COSM5989988 EZH2 c.1711T>C p.C571R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3473628 VPS72 c.505C>T p.Q169* Substitution - Nonsense Skin COSM426156 ZMYM4 c.883C>G p.L295V Substitution - Missense Breast COSM4031017 ARID1A c.4381C>T p.R1461* Substitution - Nonsense Stomach COSM4927841 BAZ1A c.826A>G p.R276G Substitution - Missense Liver COSM5638433 KMT2D c.4792G>T p.E1598* Substitution - Nonsense Oesophagus COSM4767617 KMT2A c.4891G>C p.E1631Q Substitution - Missense Biliary_tract COSM1724609 PHF8 c.2383_2385delGAG p.E795delE Deletion - In frame Urinary_tract COSM3906164 EHMT1 c.975C>T p.L325L Substitution - coding silent Stomach COSM1361971 KMT2D c.12641G>A p.R4214Q Substitution - Missense Large_intestine COSM5497914 WHSC1L1 c.1070G>A p.R357Q Substitution - Missense Small_intestine COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Large_intestine COSM3854559 PRDM9 c.5G>A p.S2N Substitution - Missense Stomach COSM272997 NCOA6 c.6007C>T p.P2003S Substitution - Missense Large_intestine COSM30375 KMT2A c.3960C>T p.P1320P Substitution - coding silent Kidney COSM23035 MEN1 c.199_202delCCCG p.A68fs*50 Deletion - Frameshift Parathyroid COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43408 TET2 c.4576_4576delC p.Q1526fs*45 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM69739 ASXL3 c.2278A>T p.T760S Substitution - Missense Ovary COSM129932 TRRAP c.80C>T p.A27V Substitution - Missense Upper_aerodigestive_tract COSM126802 KMT2D c.11095C>T p.Q3699* Substitution - Nonsense Upper_aerodigestive_tract COSM211009 MYST1 c.269A>G p.Y90C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM215691 HDAC5 c.2093G>A p.C698Y Substitution - Missense Central_nervous_system COSM243238 BRPF3 c.569G>A p.R190Q Substitution - Missense Thyroid COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Pancreas COSM255140 MEN1 c.901_901delC p.L301fs*67 Deletion - Frameshift Parathyroid COSM261476 JARID2 c.2069C>A p.A690D Substitution - Missense Large_intestine COSM287292 GLYR1 c.1140_1141insG p.R381fs*15 Insertion - Frameshift Large_intestine COSM290211 TAF1L c.9C>T p.P3P Substitution - coding silent Large_intestine COSM315203 SIRT2 c.654G>A p.T218T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM312105 KDM5A c.3693A>G p.V1231V Substitution - coding silent Soft_tissue COSM308460 PBRM1 c.724T>C p.Y242H Substitution - Missense Kidney COSM358793 TDRD3 c.485A>G p.N162S Substitution - Missense Lung COSM426102 HDAC1 c.1422G>A p.G474G Substitution - coding silent Breast COSM439143 LMNB2 c.1356T>C p.G452G Substitution - coding silent Thyroid COSM480144 SETD2 c.3970T>C p.W1324R Substitution - Missense Kidney COSM693903 ARID2 c.3298C>G p.Q1100E Substitution - Missense Lung COSM675756 ASH1L c.5809G>A p.E1937K Substitution - Missense Lung COSM939957 KMT2D c.15722A>C p.D5241A Substitution - Missense Endometrium COSM920070 SFMBT2 c.1007A>G p.D336G Substitution - Missense Endometrium COSM921434 BTAF1 c.3721C>T p.R1241* Substitution - Nonsense Endometrium COSM750338 MYST3 c.1362A>T p.T454T Substitution - coding silent Lung COSM895811 POGZ c.2425T>C p.S809P Substitution - Missense Endometrium COSM935974 HNF1A c.862delG p.P291fs*51 Deletion - Frameshift Large_intestine COSM961517 MGA c.4415G>T p.S1472I Substitution - Missense Endometrium COSM1060887 PHF15 c.213G>A p.P71P Substitution - coding silent Endometrium COSM1116469 FMR1 c.1265A>C p.N422T Substitution - Missense Endometrium COSM1130490 SMARCB1 c.397C>A p.P133T Substitution - Missense Prostate COSM1099541 ASH2L c.1666G>T p.D556Y Substitution - Missense Skin COSM1239132 ING1 c.770G>A p.R257Q Substitution - Missense Oesophagus COSM1202274 CREBBP c.1855G>A p.A619T Substitution - Missense Large_intestine COSM1180098 KMT2C c.1005T>A p.P335P Substitution - coding silent Soft_tissue COSM1226803 SMARCD3 c.569C>A p.S190Y Substitution - Missense Large_intestine COSM5232993 KMT2D c.11437C>T p.Q3813* Substitution - Nonsense Lung COSM1179871 ACTR5 c.1541T>G p.M514R Substitution - Missense Prostate COSM1165642 GABRG1 c.481A>C p.I161L Substitution - Missense Large_intestine COSM1411120 DNMT3B c.557delC p.Y188fs*4 Deletion - Frameshift Large_intestine COSM1411476 PHF20 c.2534G>A p.R845H Substitution - Missense Large_intestine COSM1466710 HCFC1 c.113G>A p.R38Q Substitution - Missense Large_intestine COSM1442449 HDGFL1 c.273C>T p.S91S Substitution - coding silent Skin COSM1461696 SMARCA2 c.1017C>T p.P339P Substitution - coding silent Large_intestine COSM1363771 CHD4 c.1039C>T p.R347* Substitution - Nonsense Large_intestine COSM1361985 KMT2D c.11395C>G p.L3799V Substitution - Missense Large_intestine COSM1567000 SETD7 c.1026delC p.K344fs*14 Deletion - Frameshift Large_intestine COSM1471834 NSD1 c.6603T>A p.S2201S Substitution - coding silent Prostate COSM1478912 BRD7 c.1869C>A p.V623V Substitution - coding silent Breast COSM1616201 PRMT2 c.833C>A p.S278Y Substitution - Missense Liver COSM1631889 SP140_ENST00000392045 c.1951C>G p.L651V Substitution - Missense Liver COSM1636931 SETD2 c.3265C>T p.R1089* Substitution - Nonsense Bone COSM1673714 KMT2C c.4687A>G p.N1563D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1676470 KMT2A c.6533T>C p.V2178A Substitution - Missense Large_intestine COSM1644410 ASXL3 c.881G>T p.G294V Substitution - Missense Salivary_gland COSM1668050 LMNA c.1901G>T p.G634V Substitution - Missense Large_intestine COSM1675367 KAT6B c.4574C>T p.T1525I Substitution - Missense Large_intestine COSM1641332 PHF20 c.1061C>A p.P354H Substitution - Missense Stomach COSM1699629 KMT2C c.527A>G p.N176S Substitution - Missense Skin COSM1708032 RTF1 c.1622T>G p.V541G Substitution - Missense Skin COSM1716876 TET2 c.3305_3312delATAATTTT p.N1103fs*24 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1732427 MECOM c.1821C>A p.H607Q Substitution - Missense Bone COSM1754197 NSD1 c.2483C>T p.S828F Substitution - Missense Urinary_tract COSM1965067 KAT6B c.472C>T p.R158C Substitution - Missense Large_intestine COSM2023482 PWWP2B c.1189G>A p.G397S Substitution - Missense Skin COSM2154601 SETD8 c.799T>C p.S267P Substitution - Missense Central_nervous_system COSM2105648 KMT2A c.11469delA p.K3825fs*31 Deletion - Frameshift Large_intestine COSM2823479 SMYD1 c.1430C>A p.P477H Substitution - Missense Lung COSM2828798 SETD5_ENST00000402198 c.1853G>A p.R618Q Substitution - Missense Large_intestine COSM3153069 EP300 c.89G>T p.G30V Substitution - Missense Large_intestine COSM3296117 MBD5 c.1120G>A p.V374I Substitution - Missense Upper_aerodigestive_tract COSM3364050 KDM5C c.4372C>T p.R1458W Substitution - Missense Kidney COSM3362636 SMARCA4 c.1599A>C p.E533D Substitution - Missense Kidney COSM3371707 NCOA3 c.1073A>G p.N358S Substitution - Missense Thyroid COSM3403339 CBX2 c.1414G>A p.D472N Substitution - Missense Central_nervous_system COSM3423650 CHD6 c.5540T>G p.L1847* Substitution - Nonsense Large_intestine COSM3424246 BRD1 c.3052T>C p.L1018L Substitution - coding silent Large_intestine COSM3620159 NCOA7 c.226T>G p.L76V Substitution - Missense Skin COSM3587200 MBD4 c.1404G>A p.R468R Substitution - coding silent Skin COSM3578906 SP140_ENST00000392045 c.1809G>A p.K603K Substitution - coding silent Skin COSM3547355 ZMYND8 c.1826C>T p.S609L Substitution - Missense Skin COSM3509896 GLYR1 c.634G>A p.D212N Substitution - Missense Skin COSM3514557 NCOR1 c.5000C>T p.P1667L Substitution - Missense Skin COSM3523268 CHD3 c.3106C>T p.P1036S Substitution - Missense Skin COSM3525426 ASXL3 c.775C>T p.H259Y Substitution - Missense Skin COSM3663864 NCOA2 c.323G>A p.G108D Substitution - Missense Liver COSM3665950 BTAF1 c.4561T>G p.Y1521D Substitution - Missense Liver COSM3704850 TRIM33 c.2927A>G p.H976R Substitution - Missense Liver COSM3835662 TFPT c.552T>G p.G184G Substitution - coding silent Breast COSM3920984 ARID1B c.5902C>T p.P1968S Substitution - Missense Skin COSM3885831 CHD8 c.6472C>T p.R2158C Substitution - Missense Skin COSM3894918 MBD5 c.2460C>T p.S820S Substitution - coding silent Skin COSM3872301 ING4 c.587C>T p.T196I Substitution - Missense Skin COSM3947480 NIPBL c.733G>C p.E245Q Substitution - Missense Lung COSM4021538 PRDM2 c.470C>T p.A157V Substitution - Missense Stomach COSM4016198 TAF3 c.1297A>G p.T433A Substitution - Missense Stomach COSM4044346 CHD4 c.2114C>T p.T705I Substitution - Missense Stomach COSM4080288 KDM4B c.665G>A p.R222Q Substitution - Missense Stomach COSM4080439 KDM4B c.961T>C p.F321L Substitution - Missense Stomach COSM4119174 PBRM1 c.344A>T p.D115V Substitution - Missense Stomach COSM4067847 MBTD1 c.55A>G p.T19A Substitution - Missense Stomach COSM4162018 KMT2C c.2315C>T p.S772L Substitution - Missense Upper_aerodigestive_tract COSM4162018 KMT2C c.2315C>T p.S772L Substitution - Missense Upper_aerodigestive_tract COSM4162018 KMT2C c.2315C>T p.S772L Substitution - Missense Upper_aerodigestive_tract COSM4156642 FMR1 c.357A>C p.K119N Substitution - Missense Upper_aerodigestive_tract COSM4385388 KDM6A c.3656G>A p.W1219* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4383788 TET2 c.1249C>T p.Q417* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4383887 TET2 c.3154A>T p.K1052* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4384730 KMT2D c.8099G>T p.S2700I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4603241 KDM6B c.761_762insACCACC p.P264_L265insPP Insertion - In frame Upper_aerodigestive_tract COSM4543754 CHD6 c.3439G>A p.G1147R Substitution - Missense Skin COSM4540123 TAF1L c.2794G>A p.E932K Substitution - Missense Skin COSM4555501 ALKBH1 c.657G>A p.L219L Substitution - coding silent Skin COSM4433151 GTF3C4 c.919G>T p.E307* Substitution - Nonsense Oesophagus COSM4473503 PHC2 c.1854C>T p.T618T Substitution - coding silent Skin COSM4411409 POLE3 c.43A>T p.I15F Substitution - Missense Kidney COSM4678907 DNMT3A c.176_177insC p.V60fs*5 Insertion - Frameshift Large_intestine COSM4742938 ZMYM6 c.607C>T p.R203* Substitution - Nonsense Large_intestine COSM4710322 ORC1 c.253C>T p.R85* Substitution - Nonsense Large_intestine COSM4693843 JMJD1C c.2990G>A p.S997N Substitution - Missense Large_intestine COSM4792947 CHD6 c.1308G>A p.K436K Substitution - coding silent Liver COSM4832954 EZH1 c.172G>A p.E58K Substitution - Missense Cervix COSM4880289 EP400 c.2413G>A p.V805I Substitution - Missense Prostate COSM4848224 NCOA1 c.959G>A p.R320H Substitution - Missense Cervix COSM4966764 NCOA2 c.3810G>T p.L1270F Substitution - Missense Prostate COSM4996040 DIDO1 c.3189G>T p.M1063I Substitution - Missense Upper_aerodigestive_tract COSM4991925 SETD2 c.4773G>A p.R1591R Substitution - coding silent Skin COSM4978681 DNMT1 c.2628C>T p.F876F Substitution - coding silent Oesophagus COSM5021975 MUM1 c.658G>A p.G220R Substitution - Missense Bone COSM5347003 ARID1A c.5299G>T p.E1767* Substitution - Nonsense Endometrium COSM5347093 ARID1A c.5162G>C p.R1721P Substitution - Missense Endometrium COSM5362855 MGA c.2678C>A p.P893H Substitution - Missense Large_intestine COSM5491205 ASH1L c.398A>G p.N133S Substitution - Missense Biliary_tract COSM5463847 HCFC1 c.1345G>A p.A449T Substitution - Missense Large_intestine COSM5480899 PHRF1 c.1647A>G p.R549R Substitution - coding silent Large_intestine COSM5444720 PRDM14 c.432T>C p.C144C Substitution - coding silent Oesophagus COSM5449061 CHD3 c.4010T>C p.L1337P Substitution - Missense Large_intestine COSM5438206 CBX3 c.367C>T p.P123S Substitution - Missense Oesophagus COSM5420838 UHRF2 c.583A>G p.T195A Substitution - Missense Prostate COSM5645136 KDM5A c.3554A>T p.H1185L Substitution - Missense Oesophagus COSM5597367 PHF21B c.856G>A p.G286S Substitution - Missense Skin COSM5674413 BRWD1 c.2050G>A p.G684S Substitution - Missense Soft_tissue COSM5547471 KMT2D c.395delC p.P132fs*76 Deletion - Frameshift Prostate COSM5767044 DHX30 c.2027C>A p.P676H Substitution - Missense Breast COSM5786844 ZBTB4 c.2983C>A p.P995T Substitution - Missense Breast COSM5945100 MLL5 c.1696C>T p.Q566* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5950978 SIRT2 c.229C>T p.R77C Substitution - Missense Prostate COSM5950820 CHD1 c.366A>G p.S122S Substitution - coding silent Prostate COSM5933805 DNMT1 c.3347-7C>T p.? Unknown Skin COSM6018510 PHF8 c.2996C>T p.P999L Substitution - Missense Skin COSM5347202 ARID1A c.?_?del? p.Q176fs*? Deletion - Frameshift Endometrium COSM914353 ASXL1 c.? p.Q733* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM1716772 TET2 c.? p.Q916* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1666672 SETBP1 c.? p.E858K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52835 PBRM1 c.1955C>G p.S652* Substitution - Nonsense Kidney COSM41896 TET2 c.? p.Q417* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1732162 PBRM1 c.1983delA p.K661fs*2 Deletion - Frameshift Kidney COSM3820852 CBX4 c.198G>T p.L66L Substitution - coding silent Breast COSM5729629 EZH1 c.1020G>A p.L340L Substitution - coding silent Skin COSM3876912 MLL5 c.4871C>T p.A1624V Substitution - Missense Stomach COSM3778510 ACTB c.1043C>G p.S348W Substitution - Missense Urinary_tract COSM84329 CREBBP c.6841G>A p.A2281T Substitution - Missense Pancreas COSM5387204 PHF23 c.562T>C p.L188L Substitution - coding silent Skin COSM4746833 ARID1A c.5942_5943delGC p.V1982fs*16 Deletion - Frameshift Stomach COSM1639814 ARID1A c.2772delG p.G925fs*16 Deletion - Frameshift Stomach COSM3832374 KMT2C c.1401T>A p.C467* Substitution - Nonsense Breast COSM5586856 TRIM66 c.1229C>T p.P410L Substitution - Missense Skin COSM5599297 CHD1 c.978C>T p.S326S Substitution - coding silent Skin COSM163441 PHF16 c.862A>G p.I288V Substitution - Missense Breast COSM5960714 ZCWPW1 c.577C>T p.P193S Substitution - Missense Breast COSM1441797 JARID2 c.2289C>T p.G763G Substitution - coding silent Large_intestine COSM703256 SRCAP c.4537C>A p.P1513T Substitution - Missense Lung COSM5423257 SMARCC2 c.230C>T p.P77L Substitution - Missense Biliary_tract COSM1232738 WHSC1 c.1979G>A p.R660Q Substitution - Missense Large_intestine COSM4384686 KMT2D c.15795G>A p.W5265* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5897149 ASXL3 c.2161-8C>T p.? Unknown Skin COSM4586236 EYA4 c.242G>A p.W81* Substitution - Nonsense Bone COSM3900853 CHD7 c.752A>G p.H251R Substitution - Missense Stomach COSM3430715 TDRD6 c.5544C>A p.F1848L Substitution - Missense Large_intestine COSM5548690 DAXX c.444C>A p.A148A Substitution - coding silent Prostate COSM53295 SMARCB1 c.1_628del628 p.? Unknown Soft_tissue COSM4804467 TBL1XR1 c.1105G>T p.D369Y Substitution - Missense Liver COSM5505427 UHRF1 c.1344+9A>T p.? Unknown Biliary_tract COSM1109605 KDM4C c.2356C>T p.R786* Substitution - Nonsense Endometrium COSM4916180 JMJD5 c.665+1G>C p.? Unknown Liver COSM5978716 RUVBL1 c.151G>A p.V51I Substitution - Missense Upper_aerodigestive_tract COSM250041 ATRX c.5819_5822delATAG p.D1940fs*14 Deletion - Frameshift Central_nervous_system COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM159172 ARID1A c.4910G>A p.R1637Q Substitution - Missense Breast COSM4466821 BAZ2A_ENST00000379441 c.1454C>T p.P485L Substitution - Missense Skin COSM3599594 PRDM5 c.181C>T p.R61C Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3514556 NCOR1 c.5198C>T p.S1733F Substitution - Missense Skin COSM41846 TET2 c.? p.R544* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5432479 BAP1 c.932-2A>C p.? Unknown Oesophagus COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4702402 KMT2A c.10592C>T p.P3531L Substitution - Missense Large_intestine COSM934529 PRDM4 c.269A>G p.Y90C Substitution - Missense Endometrium COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM447461 PRMT10 c.1563A>G p.E521E Substitution - coding silent Breast COSM296120 PRDM9 c.1855C>T p.R619W Substitution - Missense Cervix COSM436925 MBTD1 c.1055G>A p.R352Q Substitution - Missense Breast COSM3618955 CHD1 c.3695C>T p.P1232L Substitution - Missense Skin COSM4613616 TET2 c.3347_3348insA p.N1118fs*12 Insertion - Frameshift Large_intestine COSM1167561 BAP1 c.661delG p.E221fs*10 Deletion - Frameshift Skin COSM5945406 ASXL1 c.1589C>T p.A530V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Oesophagus COSM3690702 GTF3C1 c.2518G>T p.G840C Substitution - Missense Large_intestine COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43120 TET2 c.? p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4489072 SETD1A c.3428C>T p.P1143L Substitution - Missense Skin COSM4761088 LMNB1 c.925A>C p.N309H Substitution - Missense Stomach COSM4152403 KAT2B c.1276+8C>T p.? Unknown Kidney COSM1460905 WDR5 c.642delC p.V217fs*4 Deletion - Frameshift Skin COSM4405962 TTF2 c.1993A>G p.N665D Substitution - Missense Skin COSM328862 TAF1L c.5141A>T p.E1714V Substitution - Missense Liver COSM3687907 TDG c.253T>C p.S85P Substitution - Missense Large_intestine COSM211640 TET2 c.5751G>A p.W1917* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5607872 ARID1B c.5817C>T p.F1939F Substitution - coding silent Skin COSM5637454 TDRD7 c.580T>G p.S194A Substitution - Missense Oesophagus COSM1239175 JARID2 c.1266delG p.R425fs*36 Deletion - Frameshift Large_intestine COSM4441276 ZCWPW1 c.1060C>A p.L354M Substitution - Missense Large_intestine COSM85852 MEN1 c.652_653delCG p.R218fs*13 Deletion - Frameshift Pancreas COSM4700971 MBD3 c.178A>G p.S60G Substitution - Missense Large_intestine COSM1608494 PYGO1 c.453T>C p.H151H Substitution - coding silent Liver COSM5030827 BPTF c.934G>C p.D312H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384159 MLL5 c.4445A>G p.H1482R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM133051 EZH2 c.1657C>T p.Q553* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3723731 STK31 c.2108T>C p.L703P Substitution - Missense Upper_aerodigestive_tract COSM2909179 ATAD2B_ENST00000238789 c.2935C>T p.R979C Substitution - Missense Liver COSM3461629 KMT2D c.612C>T p.F204F Substitution - coding silent Skin COSM930500 KAT5 c.1414A>C p.I472L Substitution - Missense Endometrium COSM1628612 ARID2 c.4717delG p.A1573fs*53 Deletion - Frameshift Liver COSM1111294 PHF2 c.639G>T p.K213N Substitution - Missense Endometrium COSM923597 KMT2A c.8379A>G p.G2793G Substitution - coding silent Endometrium COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4411268 PBRM1 c.3920delA p.K1307fs*6 Deletion - Frameshift Kidney COSM386042 PHC2 c.2028G>C p.R676R Substitution - coding silent Lung COSM318771 ARID1A c.1476G>T p.Q492H Substitution - Missense Lung COSM1731723 CARM1 c.1106+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5063805 EHMT1 c.3013A>G p.S1005G Substitution - Missense Stomach COSM5463601 EZH2 c.432T>G p.T144T Substitution - coding silent Large_intestine COSM1713476 CHD6 c.3295C>T p.R1099W Substitution - Missense Small_intestine COSM53045 TET2 c.? p.L1360Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM295915 JARID2 c.1029G>A p.T343T Substitution - coding silent Large_intestine COSM969250 GTF3C1 c.4592G>A p.R1531Q Substitution - Missense Endometrium COSM27395 HNF1A c.502C>T p.R168C Substitution - Missense Stomach COSM4823289 KMT2C c.4999G>T p.E1667* Substitution - Nonsense Cervix COSM5034727 ARID1B c.6130G>A p.E2044K Substitution - Missense Oesophagus COSM1645446 MSH6 c.2764C>T p.R922* Substitution - Nonsense Large_intestine COSM5691104 ARID1A c.5175T>A p.I1725I Substitution - coding silent Soft_tissue COSM108590 BRPF3 c.747C>T p.I249I Substitution - coding silent Skin COSM3384409 KMT2D c.14941G>T p.E4981* Substitution - Nonsense Oesophagus COSM24925 HNF1A c.747_764del18 p.Q250_G255delQAQGLG Deletion - In frame Liver COSM4793228 SETD2 c.4477C>T p.Q1493* Substitution - Nonsense Liver COSM896942 ASH1L c.1607G>A p.G536D Substitution - Missense Endometrium COSM1388575 INO80C c.82T>C p.S28P Substitution - Missense Large_intestine COSM2808481 AP001011.3_ENST00000320876 c.476A>C p.N159T Substitution - Missense Large_intestine COSM358099 ZMYM1 c.180G>C p.L60F Substitution - Missense Lung COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Bone COSM36167 ASXL1 c.2423delC p.P808fs*10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM334934 TAF1L c.2758G>T p.A920S Substitution - Missense Lung COSM3916423 SFMBT1 c.2565G>T p.R855S Substitution - Missense Skin COSM693722 KMT2D c.14875C>A p.R4959S Substitution - Missense Lung COSM3807073 EPC1 c.1409C>A p.A470D Substitution - Missense Breast COSM4752320 TAF1L c.2672C>T p.T891M Substitution - Missense Breast COSM4687315 GLYR1 c.597G>A p.A199A Substitution - coding silent Large_intestine COSM5756472 WHSC1 c.3299A>T p.E1100V Substitution - Missense Large_intestine COSM4037737 KDM4D c.1256G>A p.R419Q Substitution - Missense Large_intestine COSM1469492 ATRX c.838T>A p.C280S Substitution - Missense Large_intestine COSM475989 MBD5 c.2340T>G p.L780L Substitution - coding silent Kidney COSM4516587 ORC1 c.2072_2073GG>AA p.R691K Substitution - Missense Skin COSM2006689 KMT2D c.14068C>T p.R4690* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM2773690 KIAA1045 c.106C>T p.R36C Substitution - Missense Pancreas COSM1716657 ATRX c.2341C>T p.R781* Substitution - Nonsense Central_nervous_system COSM2042539 SUV420H1 c.1506C>T p.A502A Substitution - coding silent Stomach COSM3776914 BRD9 c.348A>T p.A116A Substitution - coding silent Urinary_tract COSM1360171 EP400 c.2503G>A p.A835T Substitution - Missense Large_intestine COSM126804 KMT2D c.2653G>T p.E885* Substitution - Nonsense Lung COSM1685364 SETBP1 c.2612T>C p.I871T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM423261 BAP1 c.6_7insAT p.K3fs*70 Insertion - Frameshift Kidney COSM4794046 PHF8 c.2247G>A p.G749G Substitution - coding silent Liver COSM4949782 BAZ2A c.5161G>T p.G1721C Substitution - Missense Liver COSM1301601 CHD2 c.4978G>T p.D1660Y Substitution - Missense Urinary_tract COSM1401272 HAT1 c.758G>A p.G253D Substitution - Missense Large_intestine COSM2246111 ARID4A c.3642delA p.R1216fs*2 Deletion - Frameshift Large_intestine COSM5025149 MSH6 c.3725G>A p.R1242H Substitution - Missense Large_intestine COSM473839 SETBP1 c.3540C>A p.G1180G Substitution - coding silent Kidney COSM4043888 MBD6 c.1992C>T p.F664F Substitution - coding silent Stomach COSM1067679 NIPBL c.4223_4224delAC p.T1409fs*20 Deletion - Frameshift Endometrium COSM961211 BAHD1 c.1401C>T p.G467G Substitution - coding silent Endometrium COSM907692 ARID1A c.1776T>G p.Y592* Substitution - Nonsense Endometrium COSM5898403 ZMYND11 c.1546C>T p.Q516* Substitution - Nonsense Skin COSM4119371 ACTR8 c.1522G>A p.A508T Substitution - Missense Stomach COSM3754136 ALKBH1 c.970A>T p.M324L Substitution - Missense Large_intestine COSM4596110 TET2 c.4150G>A p.D1384N Substitution - Missense Upper_aerodigestive_tract COSM294554 MECOM c.1536delT p.P513fs*15 Deletion - Frameshift Large_intestine COSM4749360 CHD4 c.1840C>T p.R614C Substitution - Missense Stomach COSM1177728 HDAC9 c.1934T>C p.L645P Substitution - Missense Endometrium COSM1318035 ATF7IP c.2806_2809delACAA p.N937fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM298159 TAF1L c.4664T>A p.F1555Y Substitution - Missense Large_intestine COSM1600795 POGZ c.1475C>T p.T492I Substitution - Missense Liver COSM5402192 KDM3B c.2859C>T p.L953L Substitution - coding silent Skin COSM5358743 PHF20L1 c.83+1G>T p.? Unknown Large_intestine COSM4839928 MSH6 c.3640G>T p.E1214* Substitution - Nonsense Cervix COSM4383801 TET2 c.1300C>T p.H434Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1670132 SETD2 c.6145G>A p.G2049R Substitution - Missense Large_intestine COSM4134435 ASXL1 c.3759T>C p.S1253S Substitution - coding silent Soft_tissue COSM1462013 TAF1L c.1939C>T p.L647F Substitution - Missense Large_intestine COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4799927 SETDB2 c.772T>C p.C258R Substitution - Missense Liver COSM275232 FXR1 c.1168C>T p.R390C Substitution - Missense Large_intestine COSM1719483 MECOM c.2497G>A p.G833S Substitution - Missense Skin COSM221060 KMT2D c.9151C>T p.R3051* Substitution - Nonsense Oesophagus COSM254836 NCOR1 c.3016+1G>T p.? Unknown Urinary_tract COSM4792836 NSD1 c.3658G>C p.E1220Q Substitution - Missense Liver COSM4435799 JMJD1C c.6466A>G p.I2156V Substitution - Missense Oesophagus COSM5718813 NCOA3 c.217A>G p.K73E Substitution - Missense Skin COSM5607874 ARID1B c.5656C>T p.P1886S Substitution - Missense Skin COSM3064235 BRD1 c.1324G>A p.A442T Substitution - Missense Large_intestine COSM485101 KMT2C c.1049C>G p.P350R Substitution - Missense Kidney COSM1661670 EP300 c.4519G>A p.D1507N Substitution - Missense Kidney COSM3766011 SMYD4 c.1684C>T p.R562W Substitution - Missense Breast COSM4131320 BRD4 c.1950C>T p.D650D Substitution - coding silent Thyroid COSM4967908 NSD1 c.361C>T p.P121S Substitution - Missense Adrenal_gland COSM4850312 HCFC2 c.304G>A p.E102K Substitution - Missense Cervix COSM1319205 PRDM9 c.1589G>A p.G530E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM929213 PHRF1 c.1120C>T p.R374* Substitution - Nonsense Endometrium COSM5430405 SETD2 c.3727G>C p.E1243Q Substitution - Missense Oesophagus COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM320535 GABRG1 c.868G>T p.V290L Substitution - Missense Lung COSM4385774 PHF6 c.308_309insA p.Y103fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3488904 ZMYM4 c.4155C>T p.F1385F Substitution - coding silent Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4514920 JMJD5 c.876C>T p.P292P Substitution - coding silent Skin COSM3771715 EYA3 c.769+10G>A p.? Unknown Pancreas COSM4776415 PRDM15 c.258_259insC p.R88fs*46 Insertion - Frameshift Soft_tissue COSM252975 CHD1 c.2181-4delT p.? Unknown Biliary_tract COSM1752481 DNMT3A c.632A>C p.K211T Substitution - Missense Urinary_tract COSM961414 RTF1 c.437G>A p.R146Q Substitution - Missense Endometrium COSM937510 ATF7IP c.2845G>T p.A949S Substitution - Missense Endometrium COSM895825 POGZ c.1793G>A p.R598H Substitution - Missense Endometrium COSM5067297 TDG c.613_615-3del201 p.? Unknown Large_intestine COSM5470818 SETBP1 c.547G>A p.E183K Substitution - Missense Large_intestine COSM302644 KMT2D c.15550C>T p.R5184* Substitution - Nonsense Soft_tissue COSM5945398 ASXL1 c.254A>G p.K85R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM704680 CDYL2 c.97G>C p.G33R Substitution - Missense Lung COSM4041493 PRMT8 c.135C>T p.C45C Substitution - coding silent Stomach COSM3430086 SHPRH c.2719G>T p.D907Y Substitution - Missense Large_intestine COSM5897874 BAZ1A c.59C>T p.P20L Substitution - Missense Skin COSM3370211 PYGO1 c.430C>T p.H144Y Substitution - Missense Thyroid COSM87916 NCOR1 c.1584_1585insA p.E529fs*7 Insertion - Frameshift Central_nervous_system COSM1701034 TAF1L c.3292T>A p.S1098T Substitution - Missense Skin COSM1465737 PHF6 c.537C>T p.T179T Substitution - coding silent Large_intestine COSM43473 TET2 c.4183-1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM2909211 ATAD2B_ENST00000238789 c.1865T>A p.L622Q Substitution - Missense Large_intestine COSM3663115 STK31 c.2729A>T p.D910V Substitution - Missense Liver COSM4575677 CHD4 c.1992C>T p.Y664Y Substitution - coding silent Bone COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4766448 ZGPAT c.1223G>A p.R408H Substitution - Missense Stomach COSM22602 MEN1 c.725_742del18 p.A242_I247del Deletion - In frame Parathyroid COSM1423622 SMARCC1 c.3131C>T p.S1044F Substitution - Missense Large_intestine COSM3668741 SUV39H1 c.301C>T p.H101Y Substitution - Missense Liver COSM1121697 PHF16 c.1343C>A p.P448H Substitution - Missense Endometrium COSM1447016 MLL5 c.3499C>T p.R1167C Substitution - Missense Large_intestine COSM3663765 MYST3 c.3798G>A p.K1266K Substitution - coding silent Liver COSM4116593 KAT2B c.2052T>G p.V684V Substitution - coding silent Stomach COSM3061802 TCF20 c.1411C>A p.Q471K Substitution - Missense Large_intestine COSM5654110 KMT2C c.5922G>A p.M1974I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4592007 RAI1 c.841_843delCAG p.Q291delQ Deletion - In frame Upper_aerodigestive_tract COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Central_nervous_system COSM3930019 TAF1L c.1184T>C p.V395A Substitution - Missense Central_nervous_system COSM1717436 PBRM1 c.? p.V964D Substitution - Missense Biliary_tract COSM219102 ASXL1 c.1900_1921del22 p.R634fs*62 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3672541 BPTF c.6649A>G p.T2217A Substitution - Missense Prostate COSM5807094 ZBTB4 c.187G>A p.A63T Substitution - Missense Liver COSM4383903 TET2 c.3379delC p.Q1127fs*10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5483816 PHC1 c.2890T>C p.S964P Substitution - Missense Large_intestine COSM3388484 L3MBTL4 c.1105G>A p.D369N Substitution - Missense Pancreas COSM4895324 PHC3 c.1755C>T p.V585V Substitution - coding silent Skin COSM211751 TET2 c.5711A>G p.H1904R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5485711 RAD54L c.1034G>A p.G345D Substitution - Missense Large_intestine COSM96347 ASXL1 c.? p.G646fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM41649 TET2 c.4075C>T p.R1359C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM426121 PHC2 c.610G>C p.V204L Substitution - Missense Breast COSM1609321 CREBBP c.2284-5C>G p.? Unknown Liver COSM398580 PBRM1 c.2344A>C p.I782L Substitution - Missense Lung COSM4753170 DPF1 c.455A>T p.D152V Substitution - Missense Stomach COSM4729947 SRCAP c.8449C>T p.L2817L Substitution - coding silent Large_intestine COSM3381144 HDAC3 c.315G>A p.S105S Substitution - coding silent Pancreas COSM5582225 PRDM1 c.1942G>A p.E648K Substitution - Missense Skin COSM88741 CREBBP c.4444T>C p.Y1482H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1341905 PHC2 c.2130G>T p.K710N Substitution - Missense Large_intestine COSM186813 NIPBL c.3659C>T p.A1220V Substitution - Missense Large_intestine COSM4436097 GTF3C1 c.4136G>T p.S1379I Substitution - Missense Oesophagus COSM5746832 KMT2C c.14510C>T p.A4837V Substitution - Missense Pancreas COSM3916453 ACTR8 c.396C>T p.S132S Substitution - coding silent Skin COSM4491647 TRRAP c.3843C>T p.P1281P Substitution - coding silent Skin COSM88749 CREBBP c.4336C>T p.R1446C Substitution - Missense Large_intestine COSM3521186 BPTF c.3642C>T p.F1214F Substitution - coding silent Skin COSM4013847 EPC1 c.1258A>G p.T420A Substitution - Missense Stomach COSM4749251 L3MBTL4 c.1860A>C p.E620D Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5620200 ACTL6A c.320A>G p.Y107C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1353900 PHF21A c.1817delC p.P606fs*>29 Deletion - Frameshift Stomach COSM5815949 NCOA2 c.1794A>G p.G598G Substitution - coding silent Liver COSM1443749 RING1 c.735delC p.P247fs*38 Deletion - Frameshift Large_intestine COSM3985595 EPC1 c.328G>T p.A110S Substitution - Missense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM228110 KMT2C c.1042G>A p.D348N Substitution - Missense Skin COSM1257780 KMT2D c.14800G>C p.A4934P Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4167248 TET2 c.? p.F868L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4331132 ING2 c.173-1G>A p.? Unknown Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5674131 ZMYM2 c.575C>A p.T192K Substitution - Missense Soft_tissue COSM249345 KDM5C c.2206delG p.D736fs*28 Deletion - Frameshift Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM255184 PHF6 c.673C>T p.R225* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3792004 EED c.778C>T p.L260F Substitution - Missense Urinary_tract COSM1169485 BAP1 c.29G>A p.S10N Substitution - Missense Kidney COSM3911509 EYA2 c.174C>T p.L58L Substitution - coding silent Skin COSM4937474 PRMT8 c.1111G>A p.D371N Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4015925 KAT6B c.4878C>A p.Y1626* Substitution - Nonsense Stomach COSM362143 DIDO1 c.6666G>T p.R2222R Substitution - coding silent Lung COSM4804521 DAXX c.1252-2A>G p.? Unknown Liver COSM5513190 MYST1 c.1303C>A p.P435T Substitution - Missense Biliary_tract COSM1342127 ZMYM4 c.1282delA p.K430fs*6 Deletion - Frameshift Large_intestine COSM3713737 EP300 c.511G>T p.A171S Substitution - Missense Upper_aerodigestive_tract COSM4932877 SHPRH c.135A>T p.P45P Substitution - coding silent Liver COSM5496287 KDM6B c.2280C>G p.T760T Substitution - coding silent Biliary_tract COSM3400831 DMAP1 c.670C>T p.R224* Substitution - Nonsense Central_nervous_system COSM109685 BPTF c.3493C>T p.R1165* Substitution - Nonsense Skin COSM4633209 TAF3 c.2223G>A p.K741K Substitution - coding silent Large_intestine COSM921427 BTAF1 c.1753A>G p.K585E Substitution - Missense Endometrium COSM3386882 TP53BP1 c.4003G>A p.G1335R Substitution - Missense Pancreas COSM2154068 PHF20 c.1641G>A p.K547K Substitution - coding silent Central_nervous_system COSM1169634 PBRM1 c.? p.? Unknown Kidney COSM4600488 ERCC6 c.3481A>C p.S1161R Substitution - Missense Upper_aerodigestive_tract COSM5023938 KDM4C c.1270A>G p.N424D Substitution - Missense Bone COSM4818258 CHD2 c.735C>T p.L245L Substitution - coding silent Upper_aerodigestive_tract COSM894168 TRIM33 c.3322G>T p.D1108Y Substitution - Missense Endometrium COSM4740983 WDR5 c.775A>T p.K259* Substitution - Nonsense Large_intestine COSM4098438 CHD6 c.6929C>T p.A2310V Substitution - Missense Stomach COSM24595 SMARCB1 c.157C>T p.R53* Substitution - Nonsense Soft_tissue COSM3703902 HNF1A c.1781G>T p.S594I Substitution - Missense Liver COSM3917053 PRDM5 c.196G>A p.E66K Substitution - Missense Skin COSM1469305 HDAC8 c.506T>G p.F169C Substitution - Missense Large_intestine COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Biliary_tract COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM36205 ASXL1 c.3306G>T p.E1102D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85911 IKZF1 c.161-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Pancreas COSM96923 IDH1 c.211G>A p.V71I Substitution - Missense Thyroid COSM88759 CREBBP c.2254C>T p.Q752* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM147764 BAZ1A c.4653G>A p.A1551A Substitution - coding silent Stomach COSM212301 RAG2 c.475C>A p.R159S Substitution - Missense Breast COSM250043 ATRX c.4145_4146delCT p.S1382fs*1 Deletion - Frameshift Central_nervous_system COSM243234 BRD9 c.152A>G p.D51G Substitution - Missense Prostate COSM256417 BRDT c.244C>T p.R82C Substitution - Missense Large_intestine COSM261651 KIAA2026_ENST00000399933 c.3660C>A p.F1220L Substitution - Missense Large_intestine COSM276011 MBD6 c.1078C>T p.R360C Substitution - Missense Large_intestine COSM298325 ARID1A c.3978_3980delGCA p.Q1334delQ Deletion - In frame Bone COSM291735 CREBBP c.5039_5041delCCT p.S1680delS Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM287889 FMR1 c.1452C>T p.R484R Substitution - coding silent Large_intestine COSM305992 EP300 c.4916T>C p.L1639P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM365912 TAF1L c.1952G>T p.G651V Substitution - Missense Lung COSM365074 GTF3C1 c.557G>T p.R186L Substitution - Missense Lung COSM450756 JARID2 c.71C>T p.S24L Substitution - Missense Breast COSM465289 TDRD1 c.2574A>G p.Q858Q Substitution - coding silent Kidney COSM461932 CHD1 c.3246C>T p.F1082F Substitution - coding silent Cervix COSM977560 SUZ12 c.1038C>T p.F346F Substitution - coding silent Endometrium COSM52842 PBRM1 c.1318C>T p.Q440* Substitution - Nonsense Kidney COSM914346 ASXL1 c.1935_1936insT p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM675758 ASH1L c.6221C>G p.S2074* Substitution - Nonsense Lung COSM675114 TTF2 c.2312A>G p.N771S Substitution - Missense Lung COSM1049106 MINA c.141G>A p.S47S Substitution - coding silent Endometrium COSM1028967 DIDO1 c.5667C>T p.F1889F Substitution - coding silent Endometrium COSM702821 GTF3C1 c.3828C>T p.C1276C Substitution - coding silent Prostate COSM732448 PRMT10 c.2420C>G p.S807C Substitution - Missense Lung COSM738838 PRDM13 c.2030G>T p.G677V Substitution - Missense Lung COSM908610 ZMYM6 c.2985A>G p.A995A Substitution - coding silent Endometrium COSM948238 TDRD3 c.1517G>A p.R506Q Substitution - Missense Endometrium COSM1055643 GABRG1 c.756G>A p.T252T Substitution - coding silent Skin COSM1107423 PSIP1 c.361G>T p.D121Y Substitution - Missense Endometrium COSM1121593 KDM6A c.2705A>G p.N902S Substitution - Missense Endometrium COSM1106290 GTF3C4 c.409A>G p.K137E Substitution - Missense Endometrium COSM1099928 MYST3 c.3386G>A p.R1129Q Substitution - Missense Large_intestine COSM1237852 KMT2A c.11801T>A p.I3934N Substitution - Missense Thyroid COSM1250503 DNMT3L c.538G>A p.E180K Substitution - Missense Oesophagus COSM1228404 TAF1 c.380C>T p.T127M Substitution - Missense Breast COSM1163731 ADNP c.3047delA p.K1016fs*11 Deletion - Frameshift Stomach COSM1262065 PHF23 c.662G>T p.R221L Substitution - Missense Stomach COSM1265387 SFMBT2 c.1881C>G p.R627R Substitution - coding silent Stomach COSM1257687 MGMT c.390G>T p.V130V Substitution - coding silent Oesophagus COSM1220378 PHF21B c.598G>A p.A200T Substitution - Missense Large_intestine COSM1223954 RNF2 c.128G>A p.R43Q Substitution - Missense Breast COSM1186150 SP140 c.518G>A p.*173* Substitution - coding silent Lung COSM1303980 SMARCA4 c.4177G>A p.E1393K Substitution - Missense Urinary_tract COSM1304073 MUM1 c.606G>C p.E202D Substitution - Missense Urinary_tract COSM1327181 BRD1 c.1195A>T p.N399Y Substitution - Missense Ovary COSM1377525 SETD1A c.576_577delTG p.V193fs*9 Deletion - Frameshift Large_intestine COSM1378354 FTO c.559G>A p.G187R Substitution - Missense Large_intestine COSM1399838 MBD5 c.87G>T p.V29V Substitution - coding silent Large_intestine COSM1406730 ATAD2B_ENST00000238789 c.2370T>C p.T790T Substitution - coding silent Large_intestine COSM1446611 ACTL6B c.889G>A p.E297K Substitution - Missense Large_intestine COSM1436895 PRDM9 c.2664C>T p.Y888Y Substitution - coding silent Central_nervous_system COSM1340246 KDM1A c.1846C>T p.Q616* Substitution - Nonsense Large_intestine COSM1349142 KAT6B c.5389C>T p.R1797* Substitution - Nonsense Large_intestine COSM1355926 DPF2 c.761C>A p.S254Y Substitution - Missense Large_intestine COSM1534244 DIDO1 c.5158G>A p.E1720K Substitution - Missense Urinary_tract COSM1607179 TDRD3 c.1658C>T p.A553V Substitution - Missense Liver COSM1489856 EHMT1 c.3231G>A p.A1077A Substitution - coding silent Breast COSM1488415 KMT2C c.325C>T p.Q109* Substitution - Nonsense Skin COSM1473818 ARID1A c.5974T>C p.S1992P Substitution - Missense Breast COSM1583130 DNMT3A c.2693T>C p.I898T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1625591 FMR1 c.843T>C p.F281F Substitution - coding silent Liver COSM1684631 DIDO1 c.3862_3873del12 p.T1291_A1294delTTAA Deletion - In frame Kidney COSM1668050 LMNA c.1901G>T p.G634V Substitution - Missense Large_intestine COSM1679017 SRCAP c.2304G>T p.Q768H Substitution - Missense Large_intestine COSM1705206 ATF7IP c.2360T>C p.V787A Substitution - Missense Skin COSM1721033 ZGPAT c.1277C>T p.A426V Substitution - Missense Skin COSM1752417 SP140_ENST00000392045 c.2581C>T p.Q861* Substitution - Nonsense Urinary_tract COSM2182740 SETDB1 c.2403A>G p.L801L Substitution - coding silent Large_intestine COSM2098405 CHD4 c.4047C>A p.S1349S Substitution - coding silent Upper_aerodigestive_tract COSM3013881 PRDM9 c.2524C>T p.R842C Substitution - Missense Thyroid COSM3160338 PHF3 c.5642C>T p.P1881L Substitution - Missense Upper_aerodigestive_tract COSM3296124 MBD5 c.1248C>T p.H416H Substitution - coding silent Upper_aerodigestive_tract COSM3364631 SP140_ENST00000392045 c.307G>A p.E103K Substitution - Missense Kidney COSM3408215 MBD4 c.571C>T p.P191S Substitution - Missense Prostate COSM3496145 METTL21D c.682C>T p.P228S Substitution - Missense Skin COSM3439591 JMJD1C c.540T>A p.N180K Substitution - Missense Skin COSM3625713 DAXX c.260T>A p.F87Y Substitution - Missense Skin COSM3567436 MBD5 c.1221C>T p.L407L Substitution - coding silent Skin COSM3563674 BRWD3 c.3991C>T p.L1331F Substitution - Missense Skin COSM3690131 ARID4A c.2343A>T p.E781D Substitution - Missense Large_intestine COSM3697156 NSD1 c.682C>G p.P228A Substitution - Missense Large_intestine COSM3719761 DNMT3A c.1979A>T p.Y660F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3714178 NCOA1 c.1092C>A p.I364I Substitution - coding silent Upper_aerodigestive_tract COSM3817103 CHD2 c.2125C>T p.L709F Substitution - Missense Breast COSM3812056 KDM5A c.769G>C p.D257H Substitution - Missense Breast COSM3810880 PRDM4 c.968G>A p.S323N Substitution - Missense Breast COSM3816137 TP53BP1 c.2319A>T p.E773D Substitution - Missense Breast COSM3859851 JARID2 c.3007C>A p.Q1003K Substitution - Missense Stomach COSM3853954 NSD1 c.3155G>A p.R1052H Substitution - Missense Stomach COSM3936249 MPHOSPH8 c.2T>C p.M1T Substitution - Missense Oesophagus COSM3923408 STK31 c.1463G>A p.G488E Substitution - Missense Skin COSM3925554 EYA1 c.413C>T p.S138L Substitution - Missense Skin COSM3961264 MBD5 c.1096A>G p.S366G Substitution - Missense Lung COSM4028648 LBR c.1748G>A p.R583Q Substitution - Missense Oesophagus COSM4021113 TTF2 c.2720A>T p.D907V Substitution - Missense Stomach COSM4021560 PRDM2 c.4194A>T p.G1398G Substitution - coding silent Stomach COSM4104702 PHF21B c.504C>T p.A168A Substitution - coding silent Stomach COSM4061081 BRD7 c.1341G>A p.E447E Substitution - coding silent Stomach COSM4139947 BAHCC1 c.4371G>T p.K1457N Substitution - Missense Ovary COSM4384330 KMT2C c.6299C>T p.T2100I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384750 KMT2D c.2690C>T p.P897L Substitution - Missense Skin COSM4604798 ASH1L c.2294G>C p.G765A Substitution - Missense Upper_aerodigestive_tract COSM4603241 KDM6B c.761_762insACCACC p.P264_L265insPP Insertion - In frame Upper_aerodigestive_tract COSM4418310 KMT2A c.11504+7C>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4484090 HDAC9 c.2769C>T p.T923T Substitution - coding silent Skin COSM4502885 KAT6B c.625C>G p.R209G Substitution - Missense Skin COSM4571516 CHD6 c.4788T>C p.T1596T Substitution - coding silent Skin COSM4502161 L3MBTL3 c.606C>T p.I202I Substitution - coding silent Skin COSM4538220 SHPRH c.2519G>A p.G840E Substitution - Missense Skin COSM4534532 TET2 c.2097G>A p.L699L Substitution - coding silent Skin COSM4469587 DNMT1 c.1560C>T p.S520S Substitution - coding silent Skin COSM4720052 RAI1 c.1579C>T p.R527C Substitution - Missense Large_intestine COSM4697159 L3MBTL2 c.1556C>T p.S519L Substitution - Missense Large_intestine COSM4636154 KMT2C c.11645C>G p.T3882S Substitution - Missense Large_intestine COSM4774862 TET2 c.2293A>G p.S765G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4746443 BRD9 c.38delT p.F13fs*47 Deletion - Frameshift Stomach COSM4749243 KIAA2026_ENST00000399933 c.4849C>T p.P1617S Substitution - Missense Stomach COSM4749315 UHRF2 c.2152G>C p.V718L Substitution - Missense Stomach COSM4749939 SMARCA4 c.3257A>G p.D1086G Substitution - Missense Stomach COSM4884082 SRCAP c.34C>A p.L12I Substitution - Missense Upper_aerodigestive_tract COSM4884829 KMT2D c.14971C>T p.Q4991* Substitution - Nonsense Upper_aerodigestive_tract COSM4936874 SHPRH c.3199A>G p.K1067E Substitution - Missense Liver COSM4822863 BRD7 c.1893G>C p.L631F Substitution - Missense Cervix COSM4950011 HDAC6 c.645T>G p.H215Q Substitution - Missense Liver COSM4966980 CHD6 c.3705G>A p.M1235I Substitution - Missense Central_nervous_system COSM5030049 BPTF c.4294G>A p.V1432I Substitution - Missense Bone COSM5019942 SETBP1 c.4000+10T>A p.? Unknown Soft_tissue COSM5010097 EP400 c.3398T>C p.L1133P Substitution - Missense Large_intestine COSM5376554 RNF17 c.1128C>T p.F376F Substitution - coding silent Skin COSM5387103 BPTF c.2785G>A p.V929M Substitution - Missense Skin COSM5482035 KDM1B c.397G>A p.D133N Substitution - Missense Large_intestine COSM5445901 ZBTB33 c.568_569insGTG p.D189_D190insG Insertion - In frame Thyroid COSM5633810 DPF2 c.1000G>A p.G334S Substitution - Missense Oesophagus COSM5754840 SRCAP c.1069C>T p.H357Y Substitution - Missense Large_intestine COSM5747157 HELLS c.1964_1965insA p.N657fs*26 Insertion - Frameshift Pancreas COSM5601539 GATAD2B c.591C>T p.V197V Substitution - coding silent Skin COSM5686551 SETBP1 c.887A>G p.H296R Substitution - Missense Soft_tissue COSM5752676 NCOR1 c.3283G>T p.E1095* Substitution - Nonsense Breast COSM5566353 BAG6 c.1499G>A p.R500Q Substitution - Missense Prostate COSM5566554 PRDM10 c.1859G>A p.R620Q Substitution - Missense Prostate COSM5561324 BAHCC1 c.3005C>T p.P1002L Substitution - Missense Prostate COSM5878809 DNMT3A c.1723delG p.A575fs*76 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5878937 TET2 c.1113delA p.K372fs*5 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5946843 BPTF c.3462T>C p.S1154S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM6002002 SRCAP c.6661T>A p.S2221T Substitution - Missense Prostate COSM6003782 TRIM28 c.2439G>A p.P813P Substitution - coding silent Prostate COSM5766179 ATRX c.?_?del? p.? Unknown Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM3738488 TET2 c.? p.K1299fs*1 Frameshift Haematopoietic_and_lymphoid_tissue COSM51384 IDH1 c.? p.R132L Substitution - Missense Central_nervous_system COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4169296 ARID1A c.? p.Q2176fs*48 Unknown Biliary_tract COSM5574291 ASXL1 c.? p.G646fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM131566 IDH2 c.? p.R172G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM86975 IKZF1 c.1-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1685350 EZH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM132979 ASXL1 c.? p.Q757* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3594804 DHX30 c.64C>T p.P22S Substitution - Missense Skin COSM5711272 SMARCA2 c.399C>G p.H133Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM5050027 PWWP2B c.211G>A p.E71K Substitution - Missense Stomach COSM5621254 MGA c.7840A>G p.N2614D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4879950 MUM1 c.1216G>A p.E406K Substitution - Missense Prostate COSM26569 DOT1L c.3155G>T p.G1052V Substitution - Missense Lung COSM1936479 BAZ2A c.4620G>A p.W1540* Substitution - Nonsense Large_intestine COSM1716641 ATRX c.1651G>T p.G551* Substitution - Nonsense Central_nervous_system COSM5031010 TET2 c.3594+1_3594+4delGTAA p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1616518 TCF20 c.5430_5431insA p.A1811fs*4 Insertion - Frameshift Liver COSM2188307 TP53BP1 c.3394C>T p.R1132W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3791875 SUV420H1 c.2209G>A p.G737R Substitution - Missense Urinary_tract COSM2149381 DNMT3B c.1634G>A p.R545H Substitution - Missense Central_nervous_system COSM273106 PHF3 c.5513C>A p.P1838Q Substitution - Missense Large_intestine COSM3445294 PRDM10 c.2409C>T p.L803L Substitution - coding silent Skin COSM41644 TET2 c.1648C>T p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5663064 CREBBP c.2464G>T p.G822* Substitution - Nonsense Soft_tissue COSM309390 ATRX c.7057A>G p.I2353V Substitution - Missense Lung COSM223811 IDH2 c.731G>A p.W244* Substitution - Nonsense Skin COSM1600921 ASH1L c.8660A>C p.N2887T Substitution - Missense Liver COSM5495288 ARID1B c.3476A>G p.K1159R Substitution - Missense Biliary_tract COSM3554485 CBX7 c.222G>A p.P74P Substitution - coding silent Skin COSM1715208 BRWD3 c.2372G>T p.R791L Substitution - Missense Skin COSM457977 ZMYM3 c.3908A>G p.Y1303C Substitution - Missense Breast COSM4919954 GABRG1 c.477C>T p.H159H Substitution - coding silent Liver COSM1307068 KDM3A c.2421C>T p.A807A Substitution - coding silent Urinary_tract COSM4655941 NSD1 c.3018T>A p.P1006P Substitution - coding silent Large_intestine COSM5752799 KMT2C c.1222_1223insA p.T408fs*3 Insertion - Frameshift Breast COSM385009 TDRD5 c.1409G>A p.S470N Substitution - Missense Lung COSM1622170 MLL5 c.5043A>C p.P1681P Substitution - coding silent Lung COSM5591243 HDAC9 c.1693G>A p.E565K Substitution - Missense Skin COSM1978018 PRDM10 c.1842C>T p.C614C Substitution - coding silent Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1676614 KDM5A c.4499A>C p.K1500T Substitution - Missense Large_intestine COSM3888426 MYST1 c.255C>T p.G85G Substitution - coding silent Skin COSM912514 RERE c.3575G>A p.R1192Q Substitution - Missense Endometrium COSM1045694 DHX30 c.2495C>T p.A832V Substitution - Missense Endometrium COSM1399854 EPC2 c.200delA p.E70fs*39 Deletion - Frameshift Large_intestine COSM5599706 ING1 c.542C>T p.A181V Substitution - Missense Skin COSM13867 EP300 c.4355C>T p.P1452L Substitution - Missense Large_intestine COSM4491726 TET2 c.3857C>G p.S1286C Substitution - Missense Skin COSM1088804 CBX3 c.93C>T p.V31V Substitution - coding silent Prostate COSM5058814 NCOA1 c.3320A>G p.Q1107R Substitution - Missense Stomach COSM1610922 KDM6B c.723C>T p.P241P Substitution - coding silent Liver COSM5364027 PCGF2 c.499C>T p.R167* Substitution - Nonsense Large_intestine COSM43417 TET2 c.2746C>T p.Q916* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM43417 TET2 c.2746C>T p.Q916* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM2879835 MBD2 c.1001C>T p.A334V Substitution - Missense Large_intestine COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM4383924 TET2 c.3868T>C p.S1290P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM220521 EP300 c.4399T>A p.Y1467N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4034547 PHRF1 c.2686G>A p.G896R Substitution - Missense Stomach COSM133138 DNMT3A c.2729C>T p.A910V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4603590 KMT2C c.2448_2449insA p.I817fs*11 Insertion - Frameshift Upper_aerodigestive_tract COSM1067094 PRDM9 c.2496T>C p.Y832Y Substitution - coding silent Thyroid COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41292 IDH1 c.? p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM166346 DNMT3A c.? p.?fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM580210 EP300 c.4453G>T p.D1485Y Substitution - Missense Oesophagus COSM4725179 SETD8 c.658A>G p.I220V Substitution - Missense Large_intestine COSM355325 TAF1L c.4751G>T p.R1584L Substitution - Missense Skin COSM150428 KMT2C c.2958A>G p.P986P Substitution - coding silent Central_nervous_system COSM5606329 ASH1L c.155G>A p.R52Q Substitution - Missense Skin COSM4109806 HDAC6 c.2293C>A p.L765M Substitution - Missense Stomach COSM3874538 TDRD6 c.5522C>T p.P1841L Substitution - Missense Stomach COSM306066 STK31 c.1140C>T p.V380V Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5760346 BRD4 c.1779C>G p.S593R Substitution - Missense Bone COSM1620273 NIPBL c.5029A>G p.I1677V Substitution - Missense Liver COSM1406091 SP110 c.1013C>T p.A338V Substitution - Missense Large_intestine COSM5487294 CHD2 c.2597C>G p.S866W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3436549 BMI1 c.832C>T p.P278S Substitution - Missense Skin COSM990727 CARM1 c.1117C>T p.P373S Substitution - Missense Endometrium COSM255150 MEN1 c.1636_1637insCCACCGCC p.E547fs*15 Insertion - Frameshift Parathyroid COSM1055650 GABRG1 c.253+1G>A p.? Unknown Oesophagus COSM3785261 HDAC1 c.1372+9G>A p.? Unknown Pancreas COSM5031748 AICDA c.74G>A p.R25H Substitution - Missense Pancreas COSM5688363 BRDT c.1579G>T p.G527* Substitution - Nonsense Soft_tissue COSM3687863 EP400 c.3872G>A p.R1291H Substitution - Missense Upper_aerodigestive_tract COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1205424 EPC2 c.2195A>G p.H732R Substitution - Missense Large_intestine COSM3675037 ATAD2 c.2597G>T p.W866L Substitution - Missense Prostate COSM4162024 KMT2C c.946A>T p.T316S Substitution - Missense Upper_aerodigestive_tract COSM51252 ARID1A c.2272_2272delC p.Q758fs*75 Deletion - Frameshift Ovary COSM692222 EP400 c.6826G>T p.V2276F Substitution - Missense Lung COSM405319 BAP1 c.97T>G p.Y33D Substitution - Missense Kidney COSM1425744 SETD5_ENST00000402198 c.1842G>A p.R614R Substitution - coding silent Large_intestine COSM687270 PRDM10 c.2830C>T p.Q944* Substitution - Nonsense Lung COSM4632170 BAHCC1 c.2240A>G p.H747R Substitution - Missense Large_intestine COSM240277 JARID2 c.2148C>G p.H716Q Substitution - Missense Prostate COSM3174111 EYA4 c.900C>T p.A300A Substitution - coding silent Large_intestine COSM3770797 CHD6 c.5477T>C p.M1826T Substitution - Missense Pancreas COSM3091823 SMARCA2 c.3078G>A p.E1026E Substitution - coding silent Large_intestine COSM961502 MGA c.2596C>T p.R866* Substitution - Nonsense Endometrium COSM4746829 ARID1A c.829delG p.G277fs*86 Deletion - Frameshift Stomach COSM2803196 CHD3 c.4769G>A p.G1590E Substitution - Missense Large_intestine COSM3718642 SETD7 c.1038G>T p.G346G Substitution - coding silent Upper_aerodigestive_tract COSM1754573 SHPRH c.3222A>T p.S1074S Substitution - coding silent Urinary_tract COSM3693489 ACTR5 c.1381A>T p.I461L Substitution - Missense Large_intestine COSM5777914 SMARCA4 c.3237G>T p.S1079S Substitution - coding silent Breast COSM5898059 ATRX c.6659C>T p.S2220L Substitution - Missense Skin COSM211971 MBD1 c.1216C>T p.R406* Substitution - Nonsense Breast COSM3630860 ACTL6B c.1083C>T p.L361L Substitution - coding silent Skin COSM3384378 KDM5A c.434G>A p.R145H Substitution - Missense Pancreas COSM5443210 RAI1 c.3139G>A p.G1047R Substitution - Missense Oesophagus COSM1073480 EYA4 c.431C>A p.P144H Substitution - Missense Endometrium COSM41739 TET2 c.3904A>G p.R1302G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3660001 KDM3A c.3383A>C p.N1128T Substitution - Missense Liver COSM5030554 TET2 c.4149A>C p.R1383S Substitution - Missense Bone COSM5681678 GTF3C1 c.4861G>T p.D1621Y Substitution - Missense Soft_tissue COSM4483756 EP400 c.2733C>T p.D911D Substitution - coding silent Skin COSM5588634 PHRF1 c.1031G>A p.R344Q Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM211614 TET2 c.2710C>T p.Q904* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4824827 MUM1 c.10G>C p.D4H Substitution - Missense Cervix COSM3724490 SMARCA4 c.2506G>T p.G836* Substitution - Nonsense Ovary COSM24903 HNF1A c.476_479delGGGC p.R159fs*26 Deletion - Frameshift Liver COSM33731 IDH2 c.514A>G p.R172G Substitution - Missense Kidney COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4408290 SETD2 c.1433T>G p.L478* Substitution - Nonsense Pancreas COSM1390283 SMARCA4 c.4067G>A p.R1356Q Substitution - Missense Large_intestine COSM3803165 RNF2 c.473G>A p.R158Q Substitution - Missense Breast COSM298788 RNF17 c.956A>T p.E319V Substitution - Missense Large_intestine COSM3490661 ORC1 c.1515C>T p.P505P Substitution - coding silent Skin COSM85806 DAXX c.1766_1766delC p.R590fs*12 Deletion - Frameshift Pancreas COSM3994530 CHD1 c.503A>G p.E168G Substitution - Missense Kidney COSM4721058 RERE c.116G>A p.R39Q Substitution - Missense Large_intestine COSM4990556 ARID1A c.3839C>T p.P1280L Substitution - Missense Skin COSM4508958 DHX30 c.792C>T p.N264N Substitution - coding silent Skin COSM4885383 CHD9 c.1325C>T p.S442L Substitution - Missense Upper_aerodigestive_tract COSM215640 GTF3C1 c.4387G>A p.V1463I Substitution - Missense Central_nervous_system COSM426116 PRDM16 c.3487G>A p.A1163T Substitution - Missense Large_intestine COSM5635027 TRIM66 c.402G>A p.E134E Substitution - coding silent Oesophagus COSM2098411 CHD4 c.4002C>T p.G1334G Substitution - coding silent Large_intestine COSM1716869 SETBP1 c.2638G>A p.D880N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM418802 HDAC4 c.1759G>C p.E587Q Substitution - Missense Urinary_tract COSM4695006 KDM5C c.4665G>A p.P1555P Substitution - coding silent Large_intestine COSM4476745 DOT1L c.2091C>T p.T697T Substitution - coding silent Skin COSM2156098 C5orf35 c.385A>G p.S129G Substitution - Missense Central_nervous_system COSM4826036 MGA c.2422G>C p.E808Q Substitution - Missense Cervix COSM5698149 RNF134 c.103A>C p.T35P Substitution - Missense Soft_tissue COSM4170128 TET2 c.4556_4557insACCA p.V1521fs*58 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2687777 NIPBL c.1235G>A p.R412H Substitution - Missense Pancreas COSM4854578 EYA2 c.150C>G p.F50L Substitution - Missense Cervix COSM4756781 KDM2A c.2528G>A p.R843Q Substitution - Missense Stomach COSM757644 TAF1 c.1946T>C p.M649T Substitution - Missense Lung COSM2270963 TET2 c.3852_3854delCTT p.F1285del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM272705 FXR1 c.364delA p.N124fs*14 Deletion - Frameshift Stomach COSM5357673 SHPRH c.1209C>T p.P403P Substitution - coding silent Large_intestine COSM1637307 KMT2D c.5815C>T p.P1939S Substitution - Missense Bone COSM1483637 CHD6 c.6813G>A p.Q2271Q Substitution - coding silent Breast COSM1668244 TDRD5 c.1484C>T p.S495L Substitution - Missense Large_intestine COSM1684706 MSH6 c.1628A>G p.K543R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM896914 ASH1L c.6698G>A p.G2233E Substitution - Missense Endometrium COSM2019073 RSF1 c.1446G>A p.T482T Substitution - coding silent Large_intestine COSM5188532 SETMAR c.1717C>G p.L573V Substitution - Missense Large_intestine COSM5817759 ING5 c.719A>G p.K240R Substitution - Missense Liver COSM1628601 ARID2 c.206G>A p.W69* Substitution - Nonsense Liver COSM3866026 PHF13 c.527C>T p.P176L Substitution - Missense Skin COSM1754201 NSD1 c.3918C>G p.H1306Q Substitution - Missense Urinary_tract COSM4602831 MYST3 c.4916T>C p.V1639A Substitution - Missense Upper_aerodigestive_tract COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4638623 HDGFL1 c.279C>T p.C93C Substitution - coding silent Large_intestine COSM459375 ARID1A c.5176G>C p.E1726Q Substitution - Missense Cervix COSM966708 CHD2 c.2602A>C p.R868R Substitution - coding silent Endometrium COSM3947486 NIPBL c.8068C>T p.R2690* Substitution - Nonsense Lung COSM4403256 MBD4 c.754A>T p.K252* Substitution - Nonsense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1639855 ZMYM4 c.591_592insT p.D200fs*1 Insertion - Frameshift Stomach COSM5822450 ASXL3 c.511G>T p.E171* Substitution - Nonsense Liver COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4970092 UHRF1 c.2078G>A p.S693N Substitution - Missense Central_nervous_system COSM4798512 DNMT3B c.588G>A p.Q196Q Substitution - coding silent Liver COSM27208 KDM4B c.2221G>A p.E741K Substitution - Missense Lung COSM1028980 DIDO1 c.3394G>A p.A1132T Substitution - Missense Endometrium COSM3973950 ATRX c.595-2A>G p.? Unknown Central_nervous_system COSM1583052 EZH2 c.? p.G395fs*3 Unknown Haematopoietic_and_lymphoid_tissue COSM1180781 BAZ2A_ENST00000379441 c.1726delG p.E576fs*12 Deletion - Frameshift Large_intestine COSM453958 ATAD2 c.2832T>G p.P944P Substitution - coding silent Breast COSM3766017 RAI1 c.1992G>A p.P664P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1091566 BAZ1B c.1633G>T p.E545* Substitution - Nonsense Endometrium COSM1756431 FMR1 c.988G>C p.E330Q Substitution - Missense Urinary_tract COSM3901354 NCOA2 c.268G>A p.A90T Substitution - Missense Stomach COSM133056 EZH2 c.1947+39_1947+42delATAC p.? Unknown Haematopoietic_and_lymphoid_tissue COSM920527 KAT6B c.1965C>T p.D655D Substitution - coding silent Endometrium COSM1660253 BPTF c.5709-8T>A p.? Unknown Kidney COSM3035796 SCML2 c.782G>T p.S261I Substitution - Missense Large_intestine COSM1600086 PBRM1 c.4576+2T>A p.? Unknown Central_nervous_system COSM1169605 PBRM1 c.2899G>T p.E967* Substitution - Nonsense Kidney COSM4136374 TAF1 c.3970G>A p.V1324I Substitution - Missense Ovary COSM3255866 PHF14 c.2137G>A p.G713R Substitution - Missense Large_intestine COSM233559 TDRD1 c.2093G>A p.G698E Substitution - Missense Skin COSM5017233 DOT1L c.731C>T p.A244V Substitution - Missense Kidney COSM5737884 STK31 c.335G>T p.R112M Substitution - Missense Small_intestine COSM4756273 DIDO1 c.4097A>T p.Q1366L Substitution - Missense Stomach COSM4730993 SUV420H1 c.1645A>T p.K549* Substitution - Nonsense Large_intestine COSM4634083 CREBBP c.5813C>A p.P1938H Substitution - Missense Large_intestine COSM752835 PHF19 c.452C>T p.A151V Substitution - Missense Lung COSM1632251 NCOA6 c.3920C>T p.S1307F Substitution - Missense Liver COSM4632283 BAZ2B c.2249A>T p.E750V Substitution - Missense Large_intestine COSM231560 DNMT3A c.2206C>T p.R736C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM389695 KDM4C c.2131G>T p.G711* Substitution - Nonsense Lung COSM1472509 PRDM2 c.831_832insGAA p.E282_D283insE Insertion - In frame Upper_aerodigestive_tract COSM415531 GLYATL1 c.770C>T p.S257F Substitution - Missense Urinary_tract COSM51451 ARID1A c.2306C>G p.S769* Substitution - Nonsense Ovary COSM4592007 RAI1 c.841_843delCAG p.Q291delQ Deletion - In frame Upper_aerodigestive_tract COSM4072246 SETBP1 c.2986G>A p.V996M Substitution - Missense Stomach COSM1583144 DNMT3A c.2308_2309insCG p.F772fs*8 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM375492 TAF1 c.356A>T p.D119V Substitution - Missense Lung COSM3457165 KDM2B c.2562C>T p.I854I Substitution - coding silent Skin COSM5621230 MBD3 c.445T>C p.F149L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4615515 KDM5A c.3597_3598insA p.G1200fs*7 Insertion - Frameshift Large_intestine COSM1639217 CHD4 c.5190T>C p.H1730H Substitution - coding silent Stomach COSM1497313 BRWD3 c.5240T>A p.I1747N Substitution - Missense Kidney COSM924950 PRDM10 c.1894C>T p.R632C Substitution - Missense Endometrium COSM1708713 GLYR1 c.622G>A p.E208K Substitution - Missense Breast COSM1007225 MBD5 c.1991C>T p.T664M Substitution - Missense Endometrium COSM4969698 SIRT7 c.393A>T p.K131N Substitution - Missense Central_nervous_system COSM4480739 BAZ2A_ENST00000379441 c.2448C>T p.I816I Substitution - coding silent Skin COSM386436 MTA2 c.1936C>T p.R646W Substitution - Missense Lung COSM5725541 TP53BP1 c.4650T>G p.D1550E Substitution - Missense Skin COSM4801918 PRDM2 c.2158T>C p.S720P Substitution - Missense Liver COSM2848421 GABRG1 c.152A>C p.K51T Substitution - Missense Large_intestine COSM3840815 NCOA6 c.6103C>T p.R2035C Substitution - Missense Large_intestine COSM4971875 CBX4 c.1514_1515insGGCGGC p.A510_P511insAA Insertion - In frame Central_nervous_system COSM5576304 KMT2D c.9018_9023delGCAGCA p.Q3011_Q3012delQQ Deletion - In frame Stomach COSM2182774 SETDB1 c.3059A>C p.E1020A Substitution - Missense Large_intestine COSM392746 PHF21B c.411delC p.A138fs*6 Deletion - Frameshift Lung COSM5673073 RSF1 c.1306C>T p.H436Y Substitution - Missense Soft_tissue COSM203096 ATAD2 c.354delA p.E119fs*8 Deletion - Frameshift Large_intestine COSM1716709 ATRX c.5104_5107delGAAA p.E1702fs*22 Deletion - Frameshift Central_nervous_system COSM3945186 FXR1 c.27C>T p.R9R Substitution - coding silent Lung COSM4838369 RAI1 c.2488G>A p.E830K Substitution - Missense Cervix COSM3383467 ALKBH3 c.769-7C>T p.? Unknown Pancreas COSM976048 SMYD4 c.1577G>A p.R526H Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM209777 IDH1 c.97C>T p.P33S Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM308640 BRD8 c.532_533insC p.R178fs*20 Insertion - Frameshift Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4573348 TDRD1 c.2970A>T p.R990S Substitution - Missense Bone COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1425749 SETD5_ENST00000402198 c.3221G>A p.R1074Q Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM51432 ARID1A c.6472C>T p.R2158* Substitution - Nonsense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5942785 MBD1 c.111-6C>T p.? Unknown Skin COSM4623771 SETBP1 c.584C>T p.T195M Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM472370 RAI1 c.3574A>G p.S1192G Substitution - Missense Kidney COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM53311 IDH2 c.? p.R140W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4387454 BAP1 c.438-2A>G p.? Unknown Eye COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4659108 ACTL6A c.146A>G p.D49G Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM970582 CREBBP c.3435G>A p.G1145G Substitution - coding silent Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4018288 KMT2A c.1845G>A p.P615P Substitution - coding silent Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1100782 CHD7 c.935G>A p.R312Q Substitution - Missense Endometrium COSM721474 SMEK2 c.1453G>C p.D485H Substitution - Missense Lung COSM3594805 DHX30 c.444C>T p.S148S Substitution - coding silent Skin COSM5883639 BRWD1 c.3660-1G>A p.? Unknown Pancreas COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5047224 ARID1A c.3496G>T p.A1166S Substitution - Missense Oesophagus COSM43437 TET2 c.822_822delC p.N275fs*18 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1368704 MTA1 c.1243C>T p.R415C Substitution - Missense Skin COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM4603312 EP400 c.8184_8185insCAG p.Q2748_T2749insQ Insertion - In frame Upper_aerodigestive_tract COSM4939084 HDAC9 c.1882C>A p.R628S Substitution - Missense Liver COSM3370567 CDYL2 c.1455C>G p.L485L Substitution - coding silent Thyroid COSM3296201 MBD5 c.3237C>T p.G1079G Substitution - coding silent Stomach COSM703259 SRCAP c.3493G>A p.A1165T Substitution - Missense Lung COSM2038997 MTA2 c.385delT p.Y129fs*33 Deletion - Frameshift Large_intestine COSM421228 PHIP c.4700G>C p.S1567T Substitution - Missense Urinary_tract COSM5630237 TDRD5 c.344C>T p.P115L Substitution - Missense Oesophagus COSM3583875 SMYD1 c.1296C>T p.P432P Substitution - coding silent Skin COSM419977 SMARCC1 c.850G>A p.D284N Substitution - Missense Breast COSM932751 TRIM66 c.2482A>C p.N828H Substitution - Missense Endometrium COSM4411410 EPC1 c.2204T>A p.L735Q Substitution - Missense Kidney COSM461353 BRWD1 c.3727G>A p.E1243K Substitution - Missense Cervix COSM417658 DOT1L c.2128G>A p.E710K Substitution - Missense Urinary_tract COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM36168 ASXL1 c.1851_1852insT p.K618fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM23056 MEN1 c.1033delG p.A345fs*23 Deletion - Frameshift Gastrointestinal_tract_(site_indeterminate) COSM43518 TET2 c.5540G>A p.W1847* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM85911 IKZF1 c.161-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85989 ATRX c.7014_7017delAACA p.N2340fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM96424 EP300 c.4949C>A p.S1650Y Substitution - Missense Pancreas COSM112121 PRDM2 c.2104_2105insCTC p.P703_A704insP Insertion - In frame Upper_aerodigestive_tract COSM126104 SETD1A c.1733C>T p.S578F Substitution - Missense Upper_aerodigestive_tract COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Central_nervous_system COSM242504 CREBBP c.3461T>C p.V1154A Substitution - Missense Prostate COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Skin COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Prostate COSM41850 TET2 c.1630C>T p.R544* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM255219 ATRX c.21_6699del? p.? Unknown Bone COSM263602 SETD1A c.3328G>A p.E1110K Substitution - Missense Large_intestine COSM256110 ARID1A c.5181_5182insT p.G1729fs*7 Insertion - Frameshift Large_intestine COSM297202 PRDM2 c.4459delA p.V1490fs*74 Deletion - Frameshift Pancreas COSM309525 BRDT c.1280A>G p.Q427R Substitution - Missense Soft_tissue COSM347515 TAF1L c.2590A>T p.R864W Substitution - Missense Lung COSM364651 PRDM9 c.19C>A p.Q7K Substitution - Missense Lung COSM478792 SMARCB1 c.1112A>G p.N371S Substitution - Missense Kidney COSM987931 ASXL3 c.2687G>T p.S896I Substitution - Missense Endometrium COSM988406 SETBP1 c.4212C>T p.I1404I Substitution - coding silent Large_intestine COSM972502 CTCF c.1746C>T p.G582G Substitution - coding silent Endometrium COSM963078 PYGO1 c.91C>A p.Q31K Substitution - Missense Endometrium COSM1047002 PHF7 c.586A>G p.T196A Substitution - Missense Endometrium COSM1047091 PBRM1 c.2461A>G p.T821A Substitution - Missense Endometrium COSM1028992 DIDO1 c.1622C>T p.A541V Substitution - Missense Large_intestine COSM897355 HDGF c.199G>A p.E67K Substitution - Missense Endometrium COSM904641 LBR c.1240G>A p.A414T Substitution - Missense Prostate COSM945405 ING1 c.625G>T p.E209* Substitution - Nonsense Endometrium COSM1078489 BRPF3 c.1683G>A p.R561R Substitution - coding silent Endometrium COSM1124873 TAF1 c.1124C>A p.P375H Substitution - Missense Endometrium COSM1087582 KMT2C c.6987A>C p.G2329G Substitution - coding silent Endometrium COSM1235472 TET2 c.5167C>T p.P1723S Substitution - Missense Skin COSM1166724 MBD4 c.896C>A p.T299N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1250603 DPF1 c.741C>T p.I247I Substitution - coding silent Oesophagus COSM1197594 HDAC2 c.82G>T p.G28C Substitution - Missense Lung COSM1257791 KMT2C c.13940_13941insA p.S4648fs*2 Insertion - Frameshift Stomach COSM1165740 DIDO1 c.4795G>T p.G1599C Substitution - Missense Large_intestine COSM1603739 KAT6B c.505G>A p.G169R Substitution - Missense Liver COSM1378949 CTCF c.872A>G p.E291G Substitution - Missense Pancreas COSM1385417 BPTF c.2696A>C p.E899A Substitution - Missense Large_intestine COSM1381236 RAI1 c.3138G>A p.R1046R Substitution - coding silent Large_intestine COSM1406110 SP140_ENST00000392045 c.1164C>T p.G388G Substitution - coding silent Large_intestine COSM1425052 ATXN7 c.285G>A p.W95* Substitution - Nonsense Large_intestine COSM1411474 PHF20 c.1930G>A p.G644R Substitution - Missense Large_intestine COSM1457738 CHD7 c.6693T>C p.S2231S Substitution - coding silent Large_intestine COSM1342107 ZMYM6 c.422G>A p.C141Y Substitution - Missense Large_intestine COSM1351605 KMT2A c.1442G>A p.S481N Substitution - Missense Large_intestine COSM1351634 KMT2A c.5291G>A p.R1764H Substitution - Missense Stomach COSM1353848 PRDM11 c.855G>T p.R285S Substitution - Missense Large_intestine COSM1611470 DNMT1 c.4273A>G p.M1425V Substitution - Missense Liver COSM1618461 PRMT10 c.2033C>G p.A678G Substitution - Missense Liver COSM1587028 ZMYM2 c.1110G>T p.K370N Substitution - Missense Endometrium COSM1668513 LBR c.1130G>A p.R377Q Substitution - Missense Large_intestine COSM1659160 ARID1A c.2402delG p.G801fs*32 Deletion - Frameshift Pancreas COSM1702652 KAT6B c.307C>T p.R103C Substitution - Missense Skin COSM1720336 SCML2 c.332A>T p.D111V Substitution - Missense Skin COSM1724005 GLYATL1 c.516C>A p.L172L Substitution - coding silent Skin COSM1756194 KDM4C c.2723A>C p.Y908S Substitution - Missense Urinary_tract COSM1747357 MPHOSPH8 c.1590G>A p.Q530Q Substitution - coding silent Urinary_tract COSM1734642 HDAC7 c.331G>A p.G111S Substitution - Missense Pancreas COSM2159033 SIRT1 c.1484G>A p.G495D Substitution - Missense Cervix COSM2758189 NCOA6 c.2431G>A p.D811N Substitution - Missense Small_intestine COSM2772279 TAF1L c.1126G>A p.E376K Substitution - Missense Skin COSM2859923 TIF1 c.2549C>A p.A850D Substitution - Missense Large_intestine COSM2889621 DNMT3B c.2236G>A p.V746M Substitution - Missense Skin COSM3017646 SHPRH c.1691A>G p.Y564C Substitution - Missense Large_intestine COSM3095629 ZMYM3 c.193G>A p.G65S Substitution - Missense Large_intestine COSM3296312 EPC2 c.2184A>C p.T728T Substitution - coding silent Upper_aerodigestive_tract COSM3294965 ZMYND8 c.588C>T p.P196P Substitution - coding silent Large_intestine COSM3361174 ARID4A c.2240A>G p.N747S Substitution - Missense Kidney COSM3365369 PBRM1 c.3409G>T p.E1137* Substitution - Nonsense Kidney COSM3376679 PRDM2 c.2622G>A p.T874T Substitution - coding silent Pancreas COSM3411845 KMT2C c.954G>T p.Q318H Substitution - Missense Central_nervous_system COSM3508926 SRCAP c.8641C>T p.P2881S Substitution - Missense Skin COSM3471966 TTF2 c.2521C>T p.Q841* Substitution - Nonsense Skin COSM3578877 SP140 c.244C>T p.Q82* Substitution - Nonsense Skin COSM3578972 SP100 c.2626G>A p.D876N Substitution - Missense Skin COSM3608565 PHF15 c.352C>T p.P118S Substitution - Missense Skin COSM3598254 BRPF1 c.2334C>A p.V778V Substitution - coding silent Skin COSM3582342 SMEK2 c.1969C>T p.P657S Substitution - Missense Skin COSM3528431 SMARCA4 c.3538C>T p.P1180S Substitution - Missense Skin COSM3703783 SETDB1 c.1765A>G p.M589V Substitution - Missense Liver COSM3703899 HNF1A c.1234A>G p.M412V Substitution - Missense Liver COSM3725275 KDM6B c.2170C>A p.P724T Substitution - Missense Lung COSM3735605 SP140_ENST00000392045 c.1858G>A p.G620R Substitution - Missense Skin COSM3738111 RTF1 c.827G>A p.R276Q Substitution - Missense Soft_tissue COSM3779980 KIAA1045 c.88G>C p.D30H Substitution - Missense Urinary_tract COSM3869125 RAG2 c.1271A>T p.D424V Substitution - Missense Skin COSM3859852 JARID2 c.3025G>A p.V1009I Substitution - Missense Stomach COSM3821465 SETBP1 c.3280C>G p.Q1094E Substitution - Missense Breast COSM3906190 EHMT1 c.3700C>T p.H1234Y Substitution - Missense Stomach COSM3900255 MYST3 c.428T>G p.F143C Substitution - Missense Stomach COSM3963512 PHF20 c.2066C>T p.P689L Substitution - Missense Lung COSM4031320 PRDM16 c.329T>C p.L110P Substitution - Missense Stomach COSM4054555 MGA c.877C>A p.R293S Substitution - Missense Stomach COSM4096108 KDM3A c.69C>T p.A23A Substitution - coding silent Stomach COSM4118107 DHX30 c.1322A>G p.D441G Substitution - Missense Stomach COSM4074028 SMARCA4 c.1803G>A p.P601P Substitution - coding silent Bone COSM4059666 GTF3C1 c.344G>A p.R115H Substitution - Missense Stomach COSM4129609 NCOR1 c.568C>T p.R190* Substitution - Nonsense Upper_aerodigestive_tract COSM4162006 KMT2C c.2645T>C p.I882T Substitution - Missense Thyroid COSM4164138 PHF2 c.1435A>C p.T479P Substitution - Missense Thyroid COSM4186377 PBRM1 c.3040delG p.E1014fs*19 Deletion - Frameshift Kidney COSM4383839 TET2 c.2272C>T p.Q758* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4602562 PRDM7 c.19A>G p.I7V Substitution - Missense Upper_aerodigestive_tract COSM4433604 BRWD3 c.2065G>C p.D689H Substitution - Missense Oesophagus COSM4473098 TCF20 c.1827C>T p.S609S Substitution - coding silent Skin COSM4411402 BRPF3 c.2653A>G p.K885E Substitution - Missense Kidney COSM4702523 MLL5 c.364A>G p.I122V Substitution - Missense Large_intestine COSM4728264 SMARCA1 c.1702T>A p.F568I Substitution - Missense Large_intestine COSM4672115 CHD9 c.4849delA p.K1618fs*3 Deletion - Frameshift Large_intestine COSM4725327 SFMBT2 c.627T>C p.I209I Substitution - coding silent Large_intestine COSM4714011 PHF3 c.3281_3282delAA p.K1095fs*4 Deletion - Frameshift Large_intestine COSM4614322 SUV420H2 c.117_118insC p.L42fs*92 Insertion - Frameshift Breast COSM4651265 CREBBP c.6033C>T p.P2011P Substitution - coding silent Large_intestine COSM4635348 ARID1B c.6653C>T p.A2218V Substitution - Missense Large_intestine COSM4647821 TP53BP1 c.1471A>T p.K491* Substitution - Nonsense Large_intestine COSM4799449 ATF7IP c.1365A>G p.T455T Substitution - coding silent Liver COSM4797487 KDM6A c.3725G>A p.G1242D Substitution - Missense Liver COSM4913948 ATXN7 c.223A>G p.M75V Substitution - Missense Liver COSM4818952 TAF3 c.957G>A p.K319K Substitution - coding silent Cervix COSM4960046 BAZ1B c.3249G>A p.R1083R Substitution - coding silent Liver COSM4991208 SMARCA4 c.224C>T p.P75L Substitution - Missense Skin COSM4979992 TBL1XR1 c.718C>G p.L240V Substitution - Missense Oesophagus COSM5005083 PRDM12 c.507C>T p.N169N Substitution - coding silent Oesophagus COSM4997235 MEN1 c.521A>C p.H174P Substitution - Missense Pituitary COSM4997293 MYST3 c.947G>C p.G316A Substitution - Missense Pituitary COSM5015261 YY1 c.394C>A p.L132I Substitution - Missense Kidney COSM5045035 TBL1XR1 c.974G>A p.C325Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5218870 ASH1L c.2134_2135insA p.R712fs*10 Insertion - Frameshift Breast COSM5359148 UHRF2 c.1605-8delT p.? Unknown Large_intestine COSM5356703 PRDM9 c.1644G>A p.G548G Substitution - coding silent Large_intestine COSM5469066 NCOA2 c.2973G>A p.R991R Substitution - coding silent Large_intestine COSM5436801 ASXL3 c.1223C>T p.T408I Substitution - Missense Oesophagus COSM5632349 MBD5 c.2213A>G p.H738R Substitution - Missense Oesophagus COSM5631721 AICDA c.511C>G p.R171G Substitution - Missense Oesophagus COSM5613012 BAZ1B c.3058A>G p.R1020G Substitution - Missense Adrenal_gland COSM5769555 JMJD1C c.4667C>T p.S1556F Substitution - Missense Breast COSM5650441 GLYATL1 c.928C>A p.Q310K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5654816 TAF1L c.3775A>G p.K1259E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5702521 BAP1 c.1904_1907delTGCT p.L635fs*19 Deletion - Frameshift Eye COSM5609451 MSH6 c.4004A>G p.E1335G Substitution - Missense Skin COSM5608698 EZH2 c.1458C>A p.P486P Substitution - coding silent Skin COSM5707467 ZMYND8 c.1232T>G p.I411R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5750435 BPTF c.2881A>G p.I961V Substitution - Missense Stomach COSM5557940 CHD2 c.936G>C p.K312N Substitution - Missense Prostate COSM5789077 BAHD1 c.91G>C p.E31Q Substitution - Missense Breast COSM5799033 SMARCA2 c.1397A>T p.H466L Substitution - Missense Breast COSM5944235 TET2 c.4073_4077delGCCGT p.C1358fs*41 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5944377 ASXL1 c.1888_1892delCACCA p.H630fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5944377 ASXL1 c.1888_1892delCACCA p.H630fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5944889 DNMT3A c.2554A>G p.M852V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5949853 ARID1B c.1200_1218del19 p.G403fs*35 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5909263 KMT2D c.14092C>T p.P4698S Substitution - Missense Skin COSM5978540 SP100 c.1345+1G>A p.? Unknown Upper_aerodigestive_tract COSM5998224 SMARCA2 c.1046+6G>A p.? Unknown Prostate COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM4219285 KMT2C c.? p.C394Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1717422 IDH1 c.? p.R100* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM22631 MEN1 c.? p.? Unknown Pancreas COSM42031 TET2 c.4893T>G p.Y1631* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM53203 ASXL1 c.1918_1928del11 p.A640fs*14 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM3956617 MGA c.3589A>G p.T1197A Substitution - Missense Lung COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM1716557 ASXL1 c.2597T>G p.L866* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5015540 SMCHD1 c.869A>G p.N290S Substitution - Missense Kidney COSM454820 EYA1 c.208G>A p.G70R Substitution - Missense Breast COSM750496 ASH2L c.1405C>A p.H469N Substitution - Missense Lung COSM1255481 KDM2A c.438C>A p.L146L Substitution - coding silent Oesophagus COSM3985576 ZMYND11 c.714A>G p.I238M Substitution - Missense Kidney COSM3262403 KMT2C c.14107G>A p.V4703I Substitution - Missense Large_intestine COSM5426313 KMT2C c.2613C>T p.P871P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1675049 TAF3 c.29T>C p.L10S Substitution - Missense Large_intestine COSM1568782 TRRAP c.5732C>T p.P1911L Substitution - Missense Large_intestine COSM3649300 MYST3 c.2853C>G p.L951L Substitution - coding silent Skin COSM41713 ASXL1 c.3810_3811insAA p.T1271fs*10 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5008517 HDAC3 c.36C>T p.D12D Substitution - coding silent Large_intestine COSM4571616 PHIP c.5020T>A p.L1674I Substitution - Missense Skin COSM3360338 TDRKH c.443G>A p.R148H Substitution - Missense Large_intestine COSM4076234 DOT1L c.1372A>G p.S458G Substitution - Missense Stomach COSM87099 TET2 c.2236C>T p.Q746* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM210978 HELLS c.1524delA p.K509fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM359680 ASXL1 c.2372C>T p.S791F Substitution - Missense Lung COSM3685189 ACTB c.124-1G>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4603823 ARID1A c.5995_5996delTT p.F1999fs*1 Deletion - Frameshift Upper_aerodigestive_tract COSM921438 BTAF1 c.4176C>A p.F1392L Substitution - Missense Endometrium COSM1512173 ARID2 c.1426C>T p.Q476* Substitution - Nonsense Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM482560 NSD1 c.205T>C p.Y69H Substitution - Missense Kidney COSM1478795 SRCAP c.1531_1534delCATT p.H511fs*67 Deletion - Frameshift Breast COSM5765680 NSD1 c.1574G>A p.R525Q Substitution - Missense Large_intestine COSM3968059 SETD8 c.714G>A p.R238R Substitution - coding silent Central_nervous_system COSM5510466 TDRD1 c.279C>T p.N93N Substitution - coding silent Biliary_tract COSM1722309 MYST3 c.5079A>C p.P1693P Substitution - coding silent Central_nervous_system COSM1468558 SMC1A c.563G>A p.R188H Substitution - Missense Upper_aerodigestive_tract COSM1169690 TET2 c.? p.N1156I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5392553 DIDO1 c.1903G>A p.V635M Substitution - Missense Skin COSM32855 KDM6A c.3317T>G p.L1106R Substitution - Missense Large_intestine COSM216176 ZBTB33 c.168C>A p.Y56* Substitution - Nonsense Central_nervous_system COSM5755240 SMARCA4 c.4009C>G p.L1337V Substitution - Missense Large_intestine COSM1228436 TAF3 c.1782A>C p.E594D Substitution - Missense Large_intestine COSM4713990 PHF21A c.1817_1818insC p.A607fs*22 Insertion - Frameshift Large_intestine COSM5071648 CHD7 c.8088T>C p.P2696P Substitution - coding silent Large_intestine COSM3471962 TTF2 c.1248C>T p.Y416Y Substitution - coding silent Skin COSM1732013 PBRM1 c.1760T>C p.I587T Substitution - Missense Kidney COSM5807417 TIF1 c.2637A>G p.L879L Substitution - coding silent Liver COSM222095 BAG6 c.469C>T p.P157S Substitution - Missense Skin COSM4170632 ARID1A c.322_328delGGCCCTA p.R110fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3160224 PHF3 c.102T>C p.F34F Substitution - coding silent Large_intestine COSM5639021 NCOA6 c.637C>G p.Q213E Substitution - Missense Oesophagus COSM3068971 SETD2 c.3444delT p.F1148fs*12 Deletion - Frameshift Kidney COSM41292 IDH1 c.? p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4767461 SMARCA4 c.3633G>A p.E1211E Substitution - coding silent Biliary_tract COSM225257 KMT2C c.2915G>A p.G972E Substitution - Missense Urinary_tract COSM3785044 KMT2C c.13252A>G p.R4418G Substitution - Missense Pancreas COSM486043 ATAD2 c.496G>T p.G166C Substitution - Missense Kidney COSM431203 KMT2D c.10026G>A p.Q3342Q Substitution - coding silent Soft_tissue COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM343843 EPC1 c.1057C>G p.P353A Substitution - Missense Lung COSM5378673 TDRD5 c.2687C>T p.P896L Substitution - Missense Skin COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5705660 CHD8 c.4402G>T p.G1468* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM150428 KMT2C c.2958A>G p.P986P Substitution - coding silent Soft_tissue COSM3455337 TDG c.625C>T p.R209C Substitution - Missense Skin COSM4107267 FMR1 c.225G>A p.E75E Substitution - coding silent Stomach COSM3749702 ACTR5 c.18C>T p.F6F Substitution - coding silent Large_intestine COSM179790 SFMBT2 c.264G>A p.P88P Substitution - coding silent Pancreas COSM1561754 EP400 c.2151A>G p.P717P Substitution - coding silent Large_intestine COSM1753989 BRD8 c.671C>T p.S224F Substitution - Missense Upper_aerodigestive_tract COSM5439678 SETD1B c.2088G>A p.M696I Substitution - Missense Oesophagus COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM255162 MEN1 c.? p.Y227* Substitution - Nonsense Parathyroid COSM4953577 PHF23 c.1034G>T p.R345L Substitution - Missense Liver COSM4991772 MSH6 c.490C>T p.H164Y Substitution - Missense Skin COSM1473819 ARID1A c.6427C>T p.R2143C Substitution - Missense Breast COSM909896 KDM4A c.1429G>A p.E477K Substitution - Missense Endometrium COSM3793576 PRMT5 c.143C>A p.P48Q Substitution - Missense Urinary_tract COSM5966846 CREBBP c.58C>A p.P20T Substitution - Missense Adrenal_gland COSM3512606 CDYL2 c.837C>T p.I279I Substitution - coding silent Skin COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM2859871 TIF1 c.1466G>A p.S489N Substitution - Missense Large_intestine COSM5971100 CHD8 c.6931C>T p.L2311L Substitution - coding silent Upper_aerodigestive_tract COSM4172351 TET2 c.5578delG p.G1861fs*26 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5515162 L3MBTL3 c.1549G>A p.D517N Substitution - Missense Biliary_tract COSM5612665 DOT1L c.2680G>A p.A894T Substitution - Missense Adrenal_gland COSM41715 ASXL1 c.3202C>T p.R1068* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4952486 ASXL1 c.144-2A>G p.? Unknown Liver COSM3374118 ARID1B c.5167G>A p.D1723N Substitution - Missense Thyroid COSM704873 SMYD4 c.1929C>T p.S643S Substitution - coding silent Lung COSM4580884 LMNB2 c.1364G>A p.S455N Substitution - Missense Bone COSM3627947 TDRD6 c.604G>A p.D202N Substitution - Missense Skin COSM4975985 ORC1 c.924G>C p.K308N Substitution - Missense Oesophagus COSM33731 IDH2 c.514A>G p.R172G Substitution - Missense Biliary_tract COSM1696953 KDM1B c.409C>T p.P137S Substitution - Missense Skin COSM317051 BRD9 c.1450C>T p.H484Y Substitution - Missense Soft_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4902349 UTY c.3059G>T p.R1020M Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4166527 TET2 c.? p.Q626* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1413013 DIDO1 c.5213C>T p.P1738L Substitution - Missense Large_intestine COSM5476460 DHX30 c.1996G>A p.G666R Substitution - Missense Large_intestine COSM4728427 AP001011.3_ENST00000320876 c.2125A>G p.R709G Substitution - Missense Large_intestine COSM163750 PRMT2 c.476C>T p.A159V Substitution - Missense Breast COSM1030473 SETD4 c.41G>A p.R14Q Substitution - Missense Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1602995 TDRD1 c.1469T>A p.L490* Substitution - Nonsense Liver COSM3925558 EYA1 c.227C>T p.P76L Substitution - Missense Skin COSM3743889 MBD5 c.428C>T p.A143V Substitution - Missense Liver COSM971515 FTO c.1445C>T p.S482L Substitution - Missense Endometrium COSM1158531 BRD8 c.2035C>G p.Q679E Substitution - Missense Lung COSM999837 KDM4B c.2324G>A p.R775H Substitution - Missense Endometrium COSM135902 PRDM15 c.1054G>A p.V352M Substitution - Missense Skin COSM41293 IDH1 c.? p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3683877 SMN1 c.738A>C p.P246P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM686158 KMT2A c.11167C>G p.L3723V Substitution - Missense Lung COSM5880973 DMAP1 c.203C>A p.A68E Substitution - Missense Soft_tissue COSM5949456 TBL1XR1 c.800G>T p.G267V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5896303 CHD3 c.1688C>T p.S563F Substitution - Missense Skin COSM382910 NIPBL c.2838_2839GG>TT p.L946>? Complex Lung COSM5989626 ASXL1 c.1887delT p.H630fs*73 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5029383 HDAC5 c.2286A>G p.L762L Substitution - coding silent Bone COSM3671670 KDM1A c.2346G>T p.R782R Substitution - coding silent Prostate COSM1629922 CHD9 c.7822-5T>A p.? Unknown Liver COSM3432898 SET c.523A>G p.N175D Substitution - Missense Large_intestine COSM5000968 MSH6 c.2371C>T p.R791C Substitution - Missense Pancreas COSM450799 ARID1B c.5137G>C p.E1713Q Substitution - Missense Breast COSM1622598 KMT2C c.5592C>T p.I1864I Substitution - coding silent Liver COSM1496359 PHF3 c.245-2A>T p.? Unknown Kidney COSM51200 ASXL1 c.1888_1910del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34192 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM5589390 ZBTB4 c.1932_1946del15 p.D644_E648delDEEEE Deletion - In frame Skin COSM5150343 PRMT1 c.824C>T p.T275I Substitution - Missense Large_intestine COSM356791 TP53BP1 c.5537A>G p.Y1846C Substitution - Missense Lung COSM35460 TRIM33 c.3169A>T p.K1057* Substitution - Nonsense Central_nervous_system COSM221114 KMT2D c.674-2A>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4146853 EP400 c.6646A>C p.T2216P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3450132 GLYATL1 c.319C>T p.R107C Substitution - Missense Skin COSM380737 ARID1A c.4394C>G p.S1465C Substitution - Missense Lung COSM1670132 SETD2 c.6145G>A p.G2049R Substitution - Missense Large_intestine COSM4020868 TRIM33 c.1337G>A p.R446Q Substitution - Missense Stomach COSM5749268 AP001011.3_ENST00000320876 c.4354G>C p.V1452L Substitution - Missense Genital_tract COSM5603865 KDM3A c.2225G>A p.R742K Substitution - Missense Skin COSM1406099 SP110 c.282C>A p.P94P Substitution - coding silent Large_intestine COSM107135 PRDM4 c.445C>T p.P149S Substitution - Missense Skin COSM3529610 BRD4 c.677C>T p.P226L Substitution - Missense Skin COSM5487102 ING5 c.560C>T p.T187M Substitution - Missense Large_intestine COSM488485 PHF8 c.1708G>T p.A570S Substitution - Missense Kidney COSM1685380 TET2 c.5897G>A p.R1966H Substitution - Missense Small_intestine COSM970590 CREBBP c.2811G>A p.P937P Substitution - coding silent Endometrium COSM5753359 PBRM1 c.? p.E1501fs*? Frameshift Kidney COSM4992081 TET2 c.1633G>A p.D545N Substitution - Missense Skin COSM3291648 CHD6 c.6381C>T p.T2127T Substitution - coding silent Large_intestine COSM1744997 KMT2C c.14027A>G p.E4676G Substitution - Missense Soft_tissue COSM3598854 TET2 c.1223C>T p.P408L Substitution - Missense Skin COSM5510941 CBX2 c.1353G>T p.K451N Substitution - Missense Biliary_tract COSM4665056 BAHCC1 c.7218_7220delCAG p.S2410delS Deletion - In frame Large_intestine COSM1735242 ZMYM3 c.143delC p.P48fs*65 Deletion - Frameshift Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4998832 ZMYM1 c.490A>G p.S164G Substitution - Missense Pancreas COSM5812351 ORC1 c.1925A>T p.H642L Substitution - Missense Liver COSM1681679 CHD6 c.7381C>T p.P2461S Substitution - Missense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1638652 KAT6B c.4374delT p.L1460fs*1 Deletion - Frameshift Stomach COSM4943972 SETMAR c.949A>T p.N317Y Substitution - Missense Liver COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1127622 EED c.560T>G p.V187G Substitution - Missense Prostate COSM5019155 CREBBP c.5454G>A p.V1818V Substitution - coding silent Soft_tissue COSM4591901 NCOR1 c.618+6T>A p.? Unknown Upper_aerodigestive_tract COSM1159292 KMT2C c.12469T>C p.L4157L Substitution - coding silent Pancreas COSM3398765 KMT2D c.15528G>C p.Q5176H Substitution - Missense Central_nervous_system COSM5680016 SETD1A c.5054A>G p.K1685R Substitution - Missense Soft_tissue COSM3498274 ALKBH1 c.576C>T p.F192F Substitution - coding silent Skin COSM1360189 EP400 c.8214G>A p.Q2738Q Substitution - coding silent Prostate COSM4111710 UTY c.536A>G p.D179G Substitution - Missense Stomach COSM308124 PRMT6 c.299A>G p.Y100C Substitution - Missense Lung COSM3509568 CREBBP c.852A>T p.G284G Substitution - coding silent Skin COSM3706827 CHD2 c.3004G>T p.A1002S Substitution - Missense Liver COSM34090 IDH2 c.516G>T p.R172S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5201849 SETD5_ENST00000402198 c.3848_3849insC p.S1286fs*37 Insertion - Frameshift Oesophagus COSM940024 KMT2D c.9331C>A p.P3111T Substitution - Missense Endometrium COSM1166637 NSD1 c.5912A>G p.Y1971C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM146243 HDAC9 c.3108_3109insT p.V1037fs*25 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5510127 JARID2 c.931C>T p.R311* Substitution - Nonsense Biliary_tract COSM3718300 EZH2 c.? p.E645D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM367931 BRWD3 c.4664T>C p.L1555P Substitution - Missense Lung COSM3900855 CHD7 c.860C>T p.P287L Substitution - Missense Stomach COSM3997705 MTF2 c.484-3T>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3525412 ASXL3 c.222G>A p.E74E Substitution - coding silent Skin COSM4606764 SMYD1 c.1201C>A p.L401M Substitution - Missense Adrenal_gland COSM4754330 TDRD6 c.248G>A p.R83H Substitution - Missense Stomach COSM4951625 PHF21B c.250G>A p.V84I Substitution - Missense Liver COSM217004 HNF1A c.339_342delGCGT p.R114fs*40 Deletion - Frameshift Liver COSM230441 EYA3 c.1685T>C p.V562A Substitution - Missense Skin COSM1615602 CHD6 c.1310A>G p.H437R Substitution - Missense Liver COSM5729946 SMNDC1 c.465G>A p.K155K Substitution - coding silent Skin COSM3204044 PHC3 c.2067C>T p.G689G Substitution - coding silent Large_intestine COSM3900874 CHD7 c.5816G>A p.R1939Q Substitution - Missense Stomach COSM1125859 BRWD3 c.2053A>C p.S685R Substitution - Missense Endometrium COSM3988468 CREBBP c.6030G>A p.G2010G Substitution - coding silent Kidney COSM419075 SMYD1 c.341T>G p.V114G Substitution - Missense Upper_aerodigestive_tract COSM5420292 TAF3 c.2153_2154insGCC p.K718_K719insP Insertion - In frame Pancreas COSM1237321 MEN1 c.1091_1095delTCTTT p.F364fs*1 Deletion - Frameshift Parathyroid COSM3608883 BRD8 c.1877C>G p.A626G Substitution - Missense Skin COSM1679364 SMYD4 c.290A>G p.H97R Substitution - Missense Large_intestine COSM3736949 BAP1 c.510_511insT p.V171fs*12 Insertion - Frameshift Skin COSM4169688 ZMYM4 c.3554T>G p.V1185G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM452874 STK31 c.150+1G>T p.? Unknown Breast COSM427247 MGMT c.198G>A p.L66L Substitution - coding silent Thyroid COSM5949929 CTCF c.1352A>T p.D451V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3869904 DPF2 c.745C>T p.P249S Substitution - Missense Skin COSM159318 BAHCC1 c.6406G>A p.E2136K Substitution - Missense Breast COSM327311 PHF6 c.882A>G p.I294M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3304248 KMT2C c.4030delA p.I1344fs*1 Deletion - Frameshift Large_intestine COSM431536 BAZ2A_ENST00000379441 c.965T>G p.L322R Substitution - Missense Breast COSM5573611 CXXC1 c.913-1G>A p.? Unknown Prostate COSM1685378 TET2 c.4889C>A p.S1630* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4745792 HDAC9 c.1987C>T p.R663* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1320049 PRDM2 c.2772T>A p.D924E Substitution - Missense Ovary COSM685479 SFMBT2 c.1958G>T p.C653F Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1675576 TDRD1 c.2258G>A p.C753Y Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4681144 EP400 c.8268A>C p.Q2756H Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1390036 DNMT1 c.566C>T p.S189L Substitution - Missense Large_intestine COSM2133116 BMI1 c.596C>A p.P199H Substitution - Missense Large_intestine COSM3690374 BAHD1 c.469C>T p.R157C Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5751495 SUZ12 c.115G>AG p.G39fs*44 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM2006671 KMT2D c.14278C>T p.R4760C Substitution - Missense Large_intestine COSM5356131 CLOCK c.1206+2T>C p.? Unknown Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM346120 TAF1L c.98G>C p.G33A Substitution - Missense Lung COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM700504 TP53BP1 c.4569C>A p.Y1523* Substitution - Nonsense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM5720372 BRD8 c.3665G>A p.G1222E Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3730478 ARID1B c.1641G>A p.P547P Substitution - coding silent Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3438383 ERCC6 c.2123C>T p.S708F Substitution - Missense Liver COSM4424792 NIPBL c.4300G>A p.A1434T Substitution - Missense Oesophagus COSM215858 SMARCB1 c.1097G>C p.R366P Substitution - Missense Central_nervous_system COSM415322 KMT2A c.8293G>C p.E2765Q Substitution - Missense Urinary_tract COSM4061189 CHD9 c.730T>C p.C244R Substitution - Missense Stomach COSM1009 SMARCB1 c.897G>A p.S299S Substitution - coding silent Thyroid COSM367773 TAF1 c.2011C>A p.L671I Substitution - Missense Lung COSM5642102 SMARCB1 c.1023G>A p.R341R Substitution - coding silent Oesophagus COSM3906627 SMARCA2 c.4539G>T p.E1513D Substitution - Missense Stomach COSM707536 BPTF c.4159A>G p.K1387E Substitution - Missense Lung COSM1732085 BAP1 c.2073delA p.V692fs*>38 Deletion - Frameshift Kidney COSM5640904 TRIM28 c.1915A>T p.M639L Substitution - Missense Oesophagus COSM6004624 DIDO1 c.6199T>A p.S2067T Substitution - Missense Prostate COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM3473681 POGZ c.1501A>C p.K501Q Substitution - Missense Skin COSM3625726 PHF1 c.1025C>T p.P342L Substitution - Missense Skin COSM1257407 MBD6 c.2241C>A p.D747E Substitution - Missense Stomach COSM22647 MEN1 c.1252G>A p.D418N Substitution - Missense Parathyroid COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM5446011 BPTF c.8030_8031insCCCAGCCCC p.P2684_P2685insAPP Insertion - In frame Thyroid COSM5883842 BAP1 c.908C>A p.A303E Substitution - Missense Large_intestine COSM2911451 NCOA1 c.3060G>A p.T1020T Substitution - coding silent Biliary_tract COSM3376751 ASH1L c.5585T>C p.V1862A Substitution - Missense Pancreas COSM51981 BAP1 c.2015A>G p.D672G Substitution - Missense Pleura COSM2006711 KMT2D c.13667C>A p.A4556E Substitution - Missense Large_intestine COSM941569 SMARCC2 c.166T>G p.L56V Substitution - Missense Endometrium COSM1243011 ZBTB4 c.2156G>A p.R719H Substitution - Missense Oesophagus COSM1662712 MBD5 c.1619C>A p.A540D Substitution - Missense Kidney COSM3396684 KMT2C c.12594T>G p.C4198W Substitution - Missense Prostate COSM4905426 BRD8 c.1173G>A p.K391K Substitution - coding silent Skin COSM163003 NSD1 c.3108C>G p.A1036A Substitution - coding silent Breast COSM970036 SETD1A c.527G>A p.R176Q Substitution - Missense Endometrium COSM4590631 GLYR1 c.1377C>G p.H459Q Substitution - Missense Upper_aerodigestive_tract COSM51454 ARID1A c.5295_5296insG p.E1766fs*7 Insertion - Frameshift Ovary COSM389991 GATAD2B c.703G>C p.E235Q Substitution - Missense Lung COSM3824367 SFMBT1 c.840A>T p.K280N Substitution - Missense Breast COSM1413022 DIDO1 c.2227C>T p.R743C Substitution - Missense Large_intestine COSM5103068 SP140_ENST00000392045 c.893-4G>A p.? Unknown Large_intestine COSM25203 ZMYND8 c.1314G>A p.G438G Substitution - coding silent Skin COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Stomach COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM51477 ARID1A c.1797_1798insC p.Q601fs*22 Insertion - Frameshift Ovary COSM106843 CBX4 c.971C>T p.P324L Substitution - Missense Skin COSM107700 L3MBTL3 c.2005C>T p.R669W Substitution - Missense Skin COSM86993 IDH1 c.395_396GT>AC p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87919 SHPRH c.495_496insA p.E166fs*7 Insertion - Frameshift Large_intestine COSM112087 TDG c.286_287insA p.I98fs*6 Insertion - Frameshift Upper_aerodigestive_tract COSM134066 BRPF1 c.1854+1G>T p.? Unknown Skin COSM159985 CHD7 c.7941G>A p.V2647V Substitution - coding silent Breast COSM173429 KDM5A c.3235G>A p.D1079N Substitution - Missense Endometrium COSM199451 ZCWPW1 c.50G>T p.R17I Substitution - Missense Large_intestine COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Skin COSM254538 ARID1A c.5975C>G p.S1992* Substitution - Nonsense Urinary_tract COSM266928 MGA c.1881A>G p.R627R Substitution - coding silent Large_intestine COSM254838 NCOR1 c.3184C>T p.P1062S Substitution - Missense Urinary_tract COSM255052 EP300 c.4372_4377delCCCAAG p.P1460_K1461delPK Deletion - In frame Urinary_tract COSM295089 KMT2D c.14413G>A p.G4805R Substitution - Missense Skin COSM330958 BAHD1 c.63G>T p.E21D Substitution - Missense Lung COSM326234 PRDM2 c.4975G>T p.A1659S Substitution - Missense Lung COSM356487 DNMT3B c.342_343GG>TT p.R114>? Complex Lung COSM445710 ZBTB38 c.1788T>C p.N596N Substitution - coding silent Breast COSM445989 TBL1XR1 c.204+1G>C p.? Unknown Breast COSM447460 PRMT10 c.1565C>G p.S522C Substitution - Missense Breast COSM480174 SETD2 c.1830T>G p.Y610* Substitution - Nonsense Kidney COSM683951 PWWP2B c.1577C>T p.A526V Substitution - Missense Lung COSM1049098 MINA c.1147-1G>T p.? Unknown Endometrium COSM1028981 DIDO1 c.3218C>T p.A1073V Substitution - Missense Large_intestine COSM938869 PRMT8 c.696G>T p.K232N Substitution - Missense Endometrium COSM753638 TAF1L c.3644G>A p.R1215H Substitution - Missense Lung COSM709116 L3MBTL4 c.754G>T p.E252* Substitution - Nonsense Lung COSM958930 UBR7 c.379A>G p.N127D Substitution - Missense Endometrium COSM1602134 ARID1A c.666delC p.P224fs*8 Deletion - Frameshift Soft_tissue COSM1038084 MBD4 c.247C>T p.R83C Substitution - Missense Endometrium COSM961417 RTF1 c.1248G>T p.E416D Substitution - Missense Endometrium COSM1131918 EHMT2 c.50C>A p.A17D Substitution - Missense Upper_aerodigestive_tract COSM1105699 SET c.156G>T p.E52D Substitution - Missense Endometrium COSM1099951 MYST3 c.1529C>G p.S510C Substitution - Missense Endometrium COSM1237794 GTF3C1 c.5963G>T p.R1988L Substitution - Missense Thyroid COSM1248231 CHD9 c.4320+8delT p.? Unknown Stomach COSM1165203 KMT2D c.3481G>T p.G1161C Substitution - Missense Large_intestine COSM1606149 ARID2 c.5001T>G p.C1667W Substitution - Missense Liver COSM1328715 PRDM5 c.229C>A p.R77R Substitution - coding silent Ovary COSM1341431 ARID1A c.6472C>A p.R2158R Substitution - coding silent Bone COSM1491616 TRIM33 c.1635T>A p.T545T Substitution - coding silent Kidney COSM1470015 KDM5D c.3009G>A p.L1003L Substitution - coding silent Large_intestine COSM1582570 MECOM c.421A>C p.T141P Substitution - Missense Stomach COSM1580624 BTAF1 c.4508G>A p.R1503K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1668513 LBR c.1130G>A p.R377Q Substitution - Missense Breast COSM1645024 SRCAP c.7256A>G p.Q2419R Substitution - Missense Salivary_gland COSM1686020 STK31 c.2179G>A p.E727K Substitution - Missense Skin COSM1721156 BPTF c.6666_6668delCAC p.T2227delT Deletion - In frame Breast COSM1704638 KMT2A c.7111C>T p.H2371Y Substitution - Missense Skin COSM1713409 PHF20 c.1793C>T p.S598F Substitution - Missense Skin COSM1978013 PRDM10 c.2050C>T p.R684W Substitution - Missense Stomach COSM1979518 PRDM11 c.955C>T p.R319C Substitution - Missense Central_nervous_system COSM2059758 PCGF6 c.297_299delGGA p.E99delE Deletion - In frame Breast COSM2157369 TAF1 c.5291T>G p.M1764R Substitution - Missense Central_nervous_system COSM2950007 BRPF1 c.1086C>T p.F362F Substitution - coding silent Large_intestine COSM3494911 CHD8 c.6791C>A p.T2264K Substitution - Missense Skin COSM3424653 RBBP7 c.1222T>G p.Y408D Substitution - Missense Large_intestine COSM3624826 EHMT2 c.2908C>A p.H970N Substitution - Missense Skin COSM3637560 STK31 c.2483C>T p.S828L Substitution - Missense Oesophagus COSM3567432 MBD5 c.938C>T p.P313L Substitution - Missense Skin COSM3514550 NCOR1 c.6941C>T p.P2314L Substitution - Missense Skin COSM3525850 SETBP1 c.1254G>A p.R418R Substitution - coding silent Skin COSM3686394 SMARCA2 c.717_719delGCA p.Q242delQ Deletion - In frame Large_intestine COSM3686134 CHD3 c.794-1delG p.? Unknown Large_intestine COSM3737580 ACTL6B c.794A>C p.Q265P Substitution - Missense Soft_tissue COSM3810476 RSF1 c.3947G>C p.G1316A Substitution - Missense Breast COSM3815634 SETD3 c.469C>A p.L157M Substitution - Missense Breast COSM3790058 KDM4A c.1444G>C p.A482P Substitution - Missense Urinary_tract COSM3867775 SFMBT2 c.368T>C p.V123A Substitution - Missense Skin COSM3935040 EPC1 c.146A>G p.E49G Substitution - Missense Oesophagus COSM3821832 DNMT1 c.3232G>T p.G1078C Substitution - Missense Breast COSM3834737 MYST3 c.3013C>A p.L1005I Substitution - Missense Breast COSM3825074 PRDM5 c.557T>A p.L186H Substitution - Missense Breast COSM3915324 MECOM c.772C>T p.P258S Substitution - Missense Skin COSM3949125 BRPF3 c.663T>G p.D221E Substitution - Missense Lung COSM3963469 ASXL1 c.1612A>G p.K538E Substitution - Missense Stomach COSM3964636 ZBTB33 c.1050C>T p.V350V Substitution - coding silent Lung COSM3968239 KMT2D c.13369T>C p.S4457P Substitution - Missense Central_nervous_system COSM4015932 KAT6B c.5640A>G p.P1880P Substitution - coding silent Stomach COSM4022088 SETDB1 c.3722A>G p.D1241G Substitution - Missense Stomach COSM3984216 POGZ c.4124C>T p.P1375L Substitution - Missense Kidney COSM4098448 CHD6 c.5851G>A p.E1951K Substitution - Missense Stomach COSM4115106 MECOM c.519G>A p.S173S Substitution - coding silent Stomach COSM4119798 ATXN7 c.1469T>C p.L490S Substitution - Missense Stomach COSM4118103 SMARCC1 c.325T>C p.F109L Substitution - Missense Stomach COSM4120703 MINA c.448A>T p.I150F Substitution - Missense Stomach COSM4119147 PBRM1 c.3161A>T p.E1054V Substitution - Missense Stomach COSM4071702 AP001011.3_ENST00000320876 c.2444A>C p.K815T Substitution - Missense Stomach COSM4136067 MBD5 c.1360G>C p.E454Q Substitution - Missense Breast COSM4161255 TDRD6 c.599T>G p.V200G Substitution - Missense Upper_aerodigestive_tract COSM4169780 ASXL1 c.2883_2884delTG p.V962fs*7 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4291286 DNMT3B c.2368C>T p.P790S Substitution - Missense Skin COSM4383562 DNMT3A c.1640T>G p.L547R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4385237 EP300 c.764C>T p.S255L Substitution - Missense Skin COSM4384875 CREBBP c.328G>T p.A110S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4399744 L3MBTL3 c.2289C>T p.F763F Substitution - coding silent Skin COSM4604356 SMARCA4 c.1466A>G p.Y489C Substitution - Missense Upper_aerodigestive_tract COSM4570575 KIAA2026_ENST00000399933 c.2917T>G p.C973G Substitution - Missense Skin COSM4455041 CREBBP c.6476A>T p.Q2159L Substitution - Missense Skin COSM4654235 STK31 c.2170A>G p.M724V Substitution - Missense Liver COSM4613429 CREBBP c.4268delC p.P1423fs*36 Deletion - Frameshift Large_intestine COSM4627582 AP001011.3_ENST00000320876 c.5515A>G p.N1839D Substitution - Missense Large_intestine COSM4606547 SETD2 c.109C>T p.R37* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4751593 ARID1A c.1266C>A p.Y422* Substitution - Nonsense Stomach COSM4800074 MSH6 c.2588A>C p.E863A Substitution - Missense Liver COSM4804483 ARID2 c.3790G>T p.E1264* Substitution - Nonsense Liver COSM4941760 ASXL1 c.771C>T p.S257S Substitution - coding silent Liver COSM4933493 BAZ1B c.694A>G p.I232V Substitution - Missense Liver COSM4843518 SMYD1 c.39C>T p.T13T Substitution - coding silent Cervix COSM4826738 SRCAP c.1052C>G p.S351C Substitution - Missense Cervix COSM4950502 SUZ12 c.1148A>G p.E383G Substitution - Missense Liver COSM5017401 BRD1 c.3165T>A p.S1055R Substitution - Missense Soft_tissue COSM5049328 ATAD2 c.837T>A p.D279E Substitution - Missense Oesophagus COSM5342760 SRCAP c.169C>T p.L57L Substitution - coding silent Large_intestine COSM5415246 KMT2C c.13613T>C p.I4538T Substitution - Missense Endometrium COSM5392937 PRDM15 c.1077G>A p.G359G Substitution - coding silent Skin COSM5503714 TRIM66 c.3434A>T p.K1145M Substitution - Missense Biliary_tract COSM5471176 ASXL1 c.1914C>A p.T638T Substitution - coding silent Large_intestine COSM5450231 TCF19 c.452C>A p.P151H Substitution - Missense Large_intestine COSM5627453 KMT2D c.7470_7471insT p.L2491fs*8 Insertion - Frameshift Oesophagus COSM5574320 BAP1 c.117_122+6del12 p.? Unknown Eye COSM5769583 WDR5 c.708-6T>C p.? Unknown Breast COSM5724266 NCOR1 c.55C>T p.R19C Substitution - Missense Skin COSM5738222 KMT2C c.12464C>T p.P4155L Substitution - Missense Small_intestine COSM5740625 SETD1A c.3647C>T p.S1216F Substitution - Missense Small_intestine COSM5740847 ZBTB4 c.1345G>A p.V449M Substitution - Missense Small_intestine COSM5597093 KMT2D c.10145C>T p.A3382V Substitution - Missense Skin COSM5601664 MYST3 c.4136C>T p.S1379F Substitution - Missense Skin COSM5685584 EP400 c.5143G>A p.D1715N Substitution - Missense Soft_tissue COSM5561648 TET2 c.4584C>A p.P1528P Substitution - coding silent Prostate COSM5569481 CCDC101 c.666G>A p.T222T Substitution - coding silent Prostate COSM5782432 SRCAP c.908T>A p.I303N Substitution - Missense Breast COSM5791484 EPC2 c.233A>C p.E78A Substitution - Missense Breast COSM5961423 ASH1L c.2616delT p.I872fs*26 Deletion - Frameshift Adrenal_gland COSM5981948 KDM5D c.1716+2T>C p.? Unknown Upper_aerodigestive_tract COSM5990677 ARID2 c.1510G>A p.V504I Substitution - Missense Liver COSM5967801 UHRF1 c.1279C>T p.P427S Substitution - Missense Upper_aerodigestive_tract COSM5985231 NSD1 c.2602T>C p.S868P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5997289 TIF1 c.1522C>A p.P508T Substitution - Missense Prostate COSM5985264 KMT2C c.8488A>C p.N2830H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM41707 TET2 c.4676_4677insA p.Y1560fs*18 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1666676 SETBP1 c.? p.I871T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM22627 MEN1 c.? p.Q209* Substitution - Nonsense Small_intestine COSM5019205 PBRM1 c.996-4delG p.? Unknown Soft_tissue COSM5052621 ASH1L c.8189G>A p.R2730Q Substitution - Missense Stomach COSM118435 MGA c.3684C>G p.V1228V Substitution - coding silent Ovary COSM347929 ASH1L c.8888G>A p.R2963Q Substitution - Missense Lung COSM1239411 MBD1 c.336G>A p.P112P Substitution - coding silent Oesophagus COSM4693833 JMJD1C c.4870C>T p.R1624W Substitution - Missense Large_intestine COSM4732888 TDRD1 c.15G>A p.S5S Substitution - coding silent Large_intestine COSM1468255 HDAC6 c.2247delG p.G751fs*16 Deletion - Frameshift Large_intestine COSM1108 SMARCB1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4449069 L3MBTL3 c.1645delT p.L549fs*1 Deletion - Frameshift Skin COSM1101422 NCOA2 c.545A>C p.N182T Substitution - Missense Endometrium COSM3642749 TRRAP c.1577C>T p.P526L Substitution - Missense Skin COSM5346931 ARID1A c.5046_5047delAG p.S1684fs*13 Deletion - Frameshift Endometrium COSM32661 UHRF2 c.1392+3A>G p.? Unknown Large_intestine COSM5458827 PHF20 c.324T>C p.T108T Substitution - coding silent Large_intestine COSM896684 PYGO2 c.129G>T p.K43N Substitution - Missense Endometrium COSM3650076 CHD7 c.3978C>T p.L1326L Substitution - coding silent Skin COSM4037888 ACTR6 c.642G>T p.Q214H Substitution - Missense Stomach COSM4600347 PHF15 c.1429G>C p.E477Q Substitution - Missense Upper_aerodigestive_tract COSM5944978 DNMT3A c.1040T>C p.L347P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM440245 TFPT c.755C>G p.S252C Substitution - Missense Breast COSM3520812 SMARCD2 c.1261C>G p.R421G Substitution - Missense Skin COSM5414034 RAG2 c.385T>C p.L129L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM96480 EZH2 c.475G>A p.G159R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3563161 TAF1 c.5410G>A p.E1804K Substitution - Missense Skin COSM4166626 CHD6 c.2527G>A p.D843N Substitution - Missense Pituitary COSM3832354 KMT2C c.5568T>C p.P1856P Substitution - coding silent Breast COSM3642828 TRRAP c.9125C>T p.P3042L Substitution - Missense Skin COSM1453178 TRRAP c.4796_4797insG p.A1602fs*35 Insertion - Frameshift Large_intestine COSM926750 RAG2 c.1236G>T p.E412D Substitution - Missense Endometrium COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Skin COSM1057 SMARCB1 c.1148delC p.P383fs*>3 Deletion - Frameshift Central_nervous_system COSM1288140 SP110 c.1585C>A p.L529M Substitution - Missense Autonomic_ganglia COSM1290124 LBR c.1590G>T p.T530T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3539440 SUV420H2 c.386G>A p.W129* Substitution - Nonsense Skin COSM4953357 TRIM28 c.610G>T p.E204* Substitution - Nonsense Liver COSM4049861 CHD8 c.1506C>T p.R502R Substitution - coding silent Stomach COSM1439366 PRDM13 c.2022G>A p.P674P Substitution - coding silent Large_intestine COSM5702519 BAP1 c.666_666delC p.Y223fs*8 Deletion - Frameshift Eye COSM3618966 PRDM13 c.215G>A p.R72Q Substitution - Missense Skin COSM1169481 BAP1 c.2101C>T p.R701C Substitution - Missense Pancreas COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4996344 SETD2 c.6004T>G p.F2002V Substitution - Missense Upper_aerodigestive_tract COSM5563288 CHD1 c.4231C>T p.Q1411* Substitution - Nonsense Prostate COSM1625902 KDM6A c.902A>G p.Q301R Substitution - Missense Liver COSM1635190 KMT2C c.11827G>A p.G3943R Substitution - Missense Liver COSM4167266 TET2 c.? p.E1279G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4550356 STK31 c.499G>A p.G167R Substitution - Missense Skin COSM85916 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM450779 JARID2 c.3279G>A p.L1093L Substitution - coding silent Large_intestine COSM1460905 WDR5 c.642delC p.V217fs*4 Deletion - Frameshift Large_intestine COSM1421066 ACTL6A c.751C>T p.H251Y Substitution - Missense Large_intestine COSM4972321 ASXL1 c.? p.G645fs*58 Frameshift Haematopoietic_and_lymphoid_tissue COSM908422 PHC2 c.2449C>T p.R817C Substitution - Missense Skin COSM1201004 CHD7 c.8176G>T p.A2726S Substitution - Missense Large_intestine COSM1216851 NCOA2 c.1909G>T p.G637W Substitution - Missense Large_intestine COSM990449 DNMT1 c.1770C>T p.V590V Substitution - coding silent Endometrium COSM1443795 DAXX c.9C>T p.T3T Substitution - coding silent Large_intestine COSM1124807 ZMYM3 c.2685G>A p.P895P Substitution - coding silent Endometrium COSM285639 TDRD1 c.3327C>T p.V1109V Substitution - coding silent Large_intestine COSM3378378 KDM6B c.2547G>A p.P849P Substitution - coding silent Pancreas COSM4386176 KDM2B c.1273C>T p.P425S Substitution - Missense Large_intestine COSM5611224 ARID1A c.4301_4302CC>TA p.A1434V Substitution - Missense Skin COSM1677967 METTL21D c.320A>G p.N107S Substitution - Missense Large_intestine COSM273707 CHD7 c.4478G>A p.R1493H Substitution - Missense Large_intestine COSM5037461 MYST3 c.2204G>A p.R735Q Substitution - Missense Large_intestine COSM87012 DNMT3A c.1903C>T p.R635W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3987165 CHD4 c.203G>C p.S68T Substitution - Missense Kidney COSM5345963 RBBP7 c.597+10G>A p.? Unknown Large_intestine COSM5647552 ARID2 c.3980C>G p.S1327* Substitution - Nonsense Oesophagus COSM255014 KDM6A c.2995G>T p.E999* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1008146 BAZ2B c.5559C>T p.G1853G Substitution - coding silent Endometrium COSM3689709 KDM4A c.653G>A p.R218Q Substitution - Missense Large_intestine COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1742735 AKAP1 c.2193T>G p.P731P Substitution - coding silent Biliary_tract COSM33664 MSH6 c.794T>G p.F265C Substitution - Missense Central_nervous_system COSM529194 TDRD10 c.853G>T p.G285* Substitution - Nonsense Liver COSM1394661 KDM4B c.2889T>C p.P963P Substitution - coding silent Oesophagus COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1483562 NCOA6 c.256C>T p.Q86* Substitution - Nonsense Breast COSM2157292 ZGPAT c.872-2A>C p.? Unknown Central_nervous_system COSM1045427 SETD2 c.5846C>T p.S1949L Substitution - Missense Endometrium COSM4385617 NSD1 c.166_167insA p.T56fs*37 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM379884 SRCAP c.5135C>T p.P1712L Substitution - Missense Skin COSM368689 SMARCA4 c.3546+1G>T p.? Unknown Ovary COSM1726953 TDRD1 c.2552G>T p.C851F Substitution - Missense Liver COSM4706966 NIPBL c.449G>A p.S150N Substitution - Missense Large_intestine COSM4461875 EYA1 c.1224C>T p.G408G Substitution - coding silent Skin COSM1461693 SMARCA2 c.711G>A p.Q237Q Substitution - coding silent Upper_aerodigestive_tract COSM52827 PBRM1 c.4694_4695insT p.L1565fs*>19 Insertion - Frameshift Kidney COSM122731 DUSP1 c.904A>G p.M302V Substitution - Missense Upper_aerodigestive_tract COSM684145 ERCC6 c.2091A>T p.L697F Substitution - Missense Lung COSM4641231 NIPBL c.7018C>T p.Q2340* Substitution - Nonsense Large_intestine COSM75101 KDM1A c.454C>A p.P152T Substitution - Missense Ovary COSM944335 PHC1 c.748G>T p.V250L Substitution - Missense Kidney COSM4618174 SMARCB1 c.641C>T p.T214M Substitution - Missense Large_intestine COSM3674616 PHF10 c.505C>G p.L169V Substitution - Missense Prostate COSM3710747 KDM5A c.3044G>T p.S1015I Substitution - Missense Upper_aerodigestive_tract COSM1383303 KAT2A c.2042G>A p.R681H Substitution - Missense Large_intestine COSM1365694 MPHOSPH8 c.504_505insC p.K169fs*28 Insertion - Frameshift Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM277237 SETD2 c.3058C>T p.R1020C Substitution - Missense Large_intestine COSM3509897 GLYR1 c.583G>A p.G195R Substitution - Missense Skin COSM239169 CBX1 c.362G>A p.R121Q Substitution - Missense Prostate COSM3201909 DPF1 c.285C>T p.C95C Substitution - coding silent Prostate COSM5092756 MEN1 c.1454G>A p.R485Q Substitution - Missense Large_intestine COSM1266218 SMARCA2 c.669G>A p.Q223Q Substitution - coding silent Large_intestine COSM5362002 KMT2D c.3704C>G p.P1235R Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3919891 PRDM9 c.1840G>A p.G614R Substitution - Missense Skin COSM4299546 CBX6 c.948C>T p.S316S Substitution - coding silent Large_intestine COSM1328855 PRDM9 c.121G>A p.A41T Substitution - Missense Ovary COSM3374589 HDAC9 c.1407G>A p.Q469Q Substitution - coding silent Thyroid COSM985399 CBX2 c.336C>A p.S112S Substitution - coding silent Endometrium COSM931018 KDM2A c.1715G>A p.R572Q Substitution - Missense Endometrium COSM4448023 BAHCC1 c.388C>T p.L130L Substitution - coding silent Skin COSM4040544 ATF7IP c.2756C>A p.S919* Substitution - Nonsense Stomach COSM4011550 SMNDC1 c.310G>A p.A104T Substitution - Missense Stomach COSM1299359 KDM5A c.2716G>T p.E906* Substitution - Nonsense Prostate COSM84491 SMARCA4 c.4636-1G>C p.? Unknown Pancreas COSM3600571 SMARCA5 c.429C>T p.H143H Substitution - coding silent Skin COSM3376072 KDM1A c.985G>A p.A329T Substitution - Missense Pancreas COSM219977 ORC1 c.2360G>A p.R787Q Substitution - Missense Prostate COSM5020034 PBRM1 c.1925-5T>C p.? Unknown Soft_tissue COSM5725912 CHD4 c.5460C>T p.T1820T Substitution - coding silent Skin COSM2154955 PHC2 c.2497C>A p.H833N Substitution - Missense Central_nervous_system COSM3709952 KAT6B c.2191C>G p.Q731E Substitution - Missense Upper_aerodigestive_tract COSM1732122 BAP1 c.256-1G>A p.? Unknown Kidney COSM379103 CHD9 c.4190G>A p.R1397H Substitution - Missense Lung COSM1298514 SUV420H1 c.47G>C p.R16T Substitution - Missense Urinary_tract COSM4820881 BTAF1 c.3612C>T p.F1204F Substitution - coding silent Cervix COSM5516166 POGZ c.226delG p.A76fs*14 Deletion - Frameshift Biliary_tract COSM4134435 ASXL1 c.3759T>C p.S1253S Substitution - coding silent Soft_tissue COSM3673499 BAZ2B c.5744G>A p.C1915Y Substitution - Missense Prostate COSM4134435 ASXL1 c.3759T>C p.S1253S Substitution - coding silent Soft_tissue COSM125569 PRDM9 c.1398G>T p.R466S Substitution - Missense Upper_aerodigestive_tract COSM4736046 TRIM33 c.2389_2390insA p.T797fs*15 Insertion - Frameshift Large_intestine COSM13944 ERCC6 c.2925A>G p.R975R Substitution - coding silent Lung COSM4799699 CHD1 c.2968A>G p.M990V Substitution - Missense Liver COSM1197648 JARID2 c.1649G>T p.G550V Substitution - Missense Lung COSM339030 ASXL3 c.2616T>C p.C872C Substitution - coding silent Lung COSM1073493 EYA4 c.1670C>T p.A557V Substitution - Missense Prostate COSM4674645 CREBBP c.5954G>A p.R1985H Substitution - Missense Large_intestine COSM306019 EP300 c.1879-1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM972484 CTCF c.1061C>T p.S354F Substitution - Missense Urinary_tract COSM3935786 SETD1B c.2321A>T p.K774M Substitution - Missense Oesophagus COSM313086 MYST3 c.473G>A p.G158D Substitution - Missense Soft_tissue COSM5348737 KDM5C c.3126_3127insTAGAATGGT p.G1042_D1043ins* Insertion - In frame Liver COSM253711 DNMT1 c.860G>A p.R287K Substitution - Missense Urinary_tract COSM4657772 TP53BP1 c.1102G>A p.D368N Substitution - Missense Parathyroid COSM1465246 ZBTB33 c.563_564insTGA p.D194_V195insD Insertion - In frame Upper_aerodigestive_tract COSM5065142 SMARCA4 c.1662_1662delG p.L554fs*59 Deletion - Frameshift Kidney COSM1066236 NSD1 c.3366T>G p.I1122M Substitution - Missense Endometrium COSM5998626 UHRF2 c.567G>T p.L189F Substitution - Missense Prostate COSM4717446 PRDM10 c.2128A>G p.K710E Substitution - Missense Large_intestine COSM422736 BAP1 c.128T>G p.V43G Substitution - Missense Kidney COSM5698148 PCGF6 c.103A>C p.T35P Substitution - Missense Soft_tissue COSM4969247 ATRX c.4347_4348delAG p.E1450fs*16 Deletion - Frameshift Central_nervous_system COSM3620826 EYA4 c.1422G>A p.G474G Substitution - coding silent Skin COSM5752684 DNMT3A c.2524C>T p.Q842* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4950837 HNF1A c.1621_1624-4del93 p.? Unknown Liver COSM5987752 KMT2C c.818T>G p.V273G Substitution - Missense Salivary_gland COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM225478 BAZ2B c.314C>T p.P105L Substitution - Missense Skin COSM3827767 NSD1 c.6654C>T p.I2218I Substitution - coding silent Breast COSM3762512 KMT2C c.8685G>A p.Q2895Q Substitution - coding silent Large_intestine COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1732095 SETD2 c.3769-1G>A p.? Unknown Kidney COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM137078 SMYD4 c.142G>A p.D48N Substitution - Missense Skin COSM2188341 TP53BP1 c.919T>C p.F307L Substitution - Missense Large_intestine COSM1746525 SUV420H1 c.1765G>A p.E589K Substitution - Missense Urinary_tract COSM3365020 ZBTB38 c.274T>G p.Y92D Substitution - Missense Kidney COSM5384615 GTF3C1 c.1340A>G p.K447R Substitution - Missense Skin COSM317905 PRDM9 c.1432A>C p.S478R Substitution - Missense Lung COSM919454 JMJD1C c.5912C>T p.A1971V Substitution - Missense Large_intestine COSM5425997 TDG c.930G>A p.E310E Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM2952743 TET2 c.1796A>G p.Q599R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4793948 TRRAP c.2447G>A p.R816Q Substitution - Missense Liver COSM3113009 SRCAP c.7590T>C p.G2530G Substitution - coding silent Large_intestine COSM1076387 KDM1B c.1638C>A p.A546A Substitution - coding silent Endometrium COSM1179669 KMT2C c.943G>A p.G315S Substitution - Missense Soft_tissue COSM34090 IDH2 c.516G>T p.R172S Substitution - Missense Central_nervous_system COSM3767148 MECOM c.1089A>T p.V363V Substitution - coding silent Liver COSM96794 SETD5_ENST00000402198 c.2359C>T p.Q787* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1602145 ARID1A c.3467A>G p.E1156G Substitution - Missense Liver COSM4952685 KDM4A c.1190A>G p.K397R Substitution - Missense Liver COSM1399864 EPC2 c.2246G>A p.R749Q Substitution - Missense Large_intestine COSM4383911 TET2 c.3631T>C p.C1211R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM907752 ARID1A c.6341C>T p.P2114L Substitution - Missense Endometrium COSM993 SMARCB1 c.601C>T p.R201* Substitution - Nonsense Central_nervous_system COSM216427 AP001011.3_ENST00000320876 c.5006G>A p.R1669Q Substitution - Missense Pancreas COSM5678474 DNMT1 c.914A>G p.E305G Substitution - Missense Soft_tissue COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Bone COSM42015 TET2 c.5647_5647delA p.T1883fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4544673 JARID2 c.3613G>C p.G1205R Substitution - Missense Skin COSM144496 IDH2 c.? p.R172S Substitution - Missense Central_nervous_system COSM162915 NIPBL c.7744C>T p.R2582* Substitution - Nonsense Breast COSM51428 ARID1A c.2291_2291delC p.Q766fs*67 Deletion - Frameshift Ovary COSM5028535 GATAD2A c.836C>A p.T279K Substitution - Missense Breast COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5722574 NCOR1 c.3450C>T p.T1150T Substitution - coding silent Skin COSM5573647 DOT1L c.5198C>T p.S1733L Substitution - Missense Prostate COSM206276 KMT2C c.1966G>A p.V656I Substitution - Missense Prostate COSM3185392 CAMKMT c.806A>G p.N269S Substitution - Missense Large_intestine COSM4694977 KDM4D c.193A>G p.N65D Substitution - Missense Large_intestine COSM3457098 HNF1A c.599G>A p.R200Q Substitution - Missense Prostate COSM3097160 ATRX c.1292A>T p.E431V Substitution - Missense Large_intestine COSM1720117 PRDM14 c.1316G>A p.R439Q Substitution - Missense Skin COSM422025 TDRD7 c.3022C>T p.L1008L Substitution - coding silent Urinary_tract COSM3457098 HNF1A c.599G>A p.R200Q Substitution - Missense Skin COSM3362222 MBTD1 c.187T>G p.S63A Substitution - Missense Kidney COSM3358493 PBRM1 c.3762_3763insT p.L1255fs*4 Insertion - Frameshift Kidney COSM5657466 HDAC7 c.833G>A p.G278E Substitution - Missense Soft_tissue COSM4577839 BAZ1A c.2599T>C p.S867P Substitution - Missense Bone COSM1283940 CBX2 c.840C>T p.A280A Substitution - coding silent Autonomic_ganglia COSM1084040 PHF14 c.559C>T p.R187* Substitution - Nonsense Endometrium COSM96448 CREBBP c.? p.P858S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1377031 GTF3C1 c.2027G>A p.R676Q Substitution - Missense Large_intestine COSM3398448 KDM2B c.1861G>A p.E621K Substitution - Missense Central_nervous_system COSM4991214 SMARCA4 c.476C>T p.P159L Substitution - Missense Skin COSM4385133 ASXL1 c.3616_3625del10 p.A1206fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5417532 ATRX c.?_?delT p.?fs*? Unknown Endometrium COSM4930854 RAG2 c.804T>C p.N268N Substitution - coding silent Liver COSM673833 TP53BP1 c.225C>A p.D75E Substitution - Missense Endometrium COSM5458038 ACTL6B c.1087C>T p.R363* Substitution - Nonsense Large_intestine COSM1710492 MBTD1 c.1086T>G p.F362L Substitution - Missense Skin COSM37029 EZH2 c.1937A>C p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4044331 CHD4 c.3314G>A p.R1105Q Substitution - Missense Stomach COSM941724 BAZ2A_ENST00000379441 c.5221C>T p.R1741C Substitution - Missense Large_intestine COSM5514636 NSD1 c.1084C>T p.R362W Substitution - Missense Biliary_tract COSM934524 PRDM4 c.1071G>A p.L357L Substitution - coding silent Endometrium COSM3896560 ATAD2 c.1297A>G p.N433D Substitution - Missense Stomach COSM4118097 SMARCC1 c.1496G>A p.R499H Substitution - Missense Stomach COSM217218 HAT1 c.717T>G p.S239R Substitution - Missense Liver COSM4047971 PHF11 c.570G>T p.Q190H Substitution - Missense Stomach COSM2002875 ATF7IP c.3372C>T p.H1124H Substitution - coding silent Large_intestine COSM4950826 ARID1A c.1705G>A p.A569T Substitution - Missense Liver COSM5609426 KMT2A c.9897A>C p.A3299A Substitution - coding silent Skin COSM1629348 ARID4A c.1716C>G p.P572P Substitution - coding silent Liver COSM120175 TET2 c.3680T>A p.V1227E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM907762 ARID1A c.6716T>C p.L2239P Substitution - Missense Endometrium COSM3970684 SMARCA4 c.1018G>A p.A340T Substitution - Missense Central_nervous_system COSM1639809 ARID1A c.833G>C p.G278A Substitution - Missense Stomach COSM699880 RTF1 c.1434C>A p.I478I Substitution - coding silent Lung COSM3992244 HDAC10 c.754G>C p.E252Q Substitution - Missense Kidney COSM1228430 TAF1L c.365G>T p.R122I Substitution - Missense Large_intestine COSM4692494 ING1 c.445C>T p.R149C Substitution - Missense Large_intestine COSM2974789 TRIM28 c.1663G>C p.E555Q Substitution - Missense Stomach COSM4949773 KDM4C c.2068T>C p.C690R Substitution - Missense Liver COSM4049927 PRMT5 c.202C>T p.R68* Substitution - Nonsense Stomach COSM1363037 SMARCC2 c.3274_3276delCCT p.P1092delP Deletion - In frame Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1673881 MYST3 c.5240C>A p.P1747Q Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4798577 KMT2C c.1332G>A p.R444R Substitution - coding silent Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM461638 KMT2C c.850C>T p.R284* Substitution - Nonsense Cervix COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4443832 KMT2D c.1870T>C p.S624P Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3716229 PRDM12 c.840C>T p.F280F Substitution - coding silent Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM249843 DNMT3A c.993_994insC p.G332fs*11 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3642808 TRRAP c.6984C>T p.F2328F Substitution - coding silent Skin COSM4656658 ATAD2B_ENST00000238789 c.93G>A p.A31A Substitution - coding silent Large_intestine COSM1475260 PRDM10 c.386G>T p.R129I Substitution - Missense Breast COSM999798 KDM4B c.1302C>T p.A434A Substitution - coding silent Endometrium COSM2027706 MTA1 c.1907delG p.G638fs*11 Deletion - Frameshift Large_intestine COSM917223 ZMYND11 c.152A>G p.E51G Substitution - Missense Stomach COSM4534095 BRWD3 c.2049G>A p.L683L Substitution - coding silent Skin COSM4758000 BAHCC1 c.3479C>T p.A1160V Substitution - Missense Stomach COSM1738146 EZH2 c.1_2256del2256 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM930380 DPF2 c.371G>A p.R124H Substitution - Missense Endometrium COSM1749561 SRCAP c.1874G>A p.G625E Substitution - Missense Urinary_tract COSM5057912 BRD1 c.16C>T p.R6* Substitution - Nonsense Stomach COSM442601 ATAD2B_ENST00000238789 c.1523A>G p.D508G Substitution - Missense Breast COSM133586 ASXL1 c.2053G>A p.G685R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM737592 NSD1 c.5332C>T p.R1778* Substitution - Nonsense Lung COSM41741 TET2 c.5618T>C p.I1873T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1216533 KAT6B c.5360C>T p.T1787M Substitution - Missense Large_intestine COSM4592287 SP140_ENST00000392045 c.1948C>G p.P650A Substitution - Missense Upper_aerodigestive_tract COSM3368054 ERCC6 c.968A>G p.K323R Substitution - Missense Thyroid COSM30486 SETD2 c.3392_3393delAT p.N1131fs*2 Deletion - Frameshift Kidney COSM914323 RNF134 c.261_263delAGA p.E89delE Deletion - In frame Endometrium COSM1067061 PRDM9 c.280G>T p.E94* Substitution - Nonsense Endometrium COSM1026839 CHD6 c.7999T>C p.S2667P Substitution - Missense Endometrium COSM5496287 KDM6B c.2280C>G p.T760T Substitution - coding silent Biliary_tract COSM2808619 AP001011.3_ENST00000320876 c.3715C>T p.R1239C Substitution - Missense Large_intestine COSM4098470 CHD6 c.1175G>T p.G392V Substitution - Missense Stomach COSM325485 HELLS c.280C>A p.Q94K Substitution - Missense Lung COSM2911447 NCOA1 c.2936C>T p.T979M Substitution - Missense Large_intestine COSM3656843 TAF1L c.3598C>T p.R1200C Substitution - Missense Prostate COSM245759 MPHOSPH8 c.1842C>T p.D614D Substitution - coding silent Large_intestine COSM5879093 EZH2 c.1720A>G p.K574E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM248833 TDRD6 c.1006C>T p.R336W Substitution - Missense Pancreas COSM1364810 PHC1 c.2518delA p.M842fs*1 Deletion - Frameshift Large_intestine COSM4614480 DNMT1 c.4652_4661del10 p.R1551fs*55 Deletion - Frameshift Large_intestine COSM987917 ASXL3 c.1868T>C p.F623S Substitution - Missense Endometrium COSM1055649 GABRG1 c.311C>T p.P104L Substitution - Missense Endometrium COSM996 SMARCB1 c.727C>T p.Q243* Substitution - Nonsense Soft_tissue COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43518 TET2 c.5540G>A p.W1847* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM53272 TET2 c.3341_3342insA p.P1115fs*15 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM83884 ARID1A c.3826C>T p.R1276* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM51418 ARID1A c.5164C>T p.R1722* Substitution - Nonsense Endometrium COSM46429 HNF1A c.613A>C p.K205Q Substitution - Missense Liver COSM110707 ASXL1 c.1762C>T p.Q588* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM144546 TET2 c.2818_2818delA p.T940fs*13 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM159413 BRDT c.1353G>T p.K451N Substitution - Missense Breast COSM176391 LMNB1 c.1010G>A p.R337H Substitution - Missense Large_intestine COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Central_nervous_system COSM41850 TET2 c.1630C>T p.R544* Substitution - Nonsense Skin COSM268532 ZMYM6 c.1528C>T p.R510* Substitution - Nonsense Endometrium COSM269877 PHC2 c.917G>A p.G306D Substitution - Missense Large_intestine COSM253882 KDM6A c.3341C>A p.S1114* Substitution - Nonsense Urinary_tract COSM255886 CHD7 c.2739_2740delTG p.Y913fs*1 Deletion - Frameshift Central_nervous_system COSM260970 FMR1 c.1580G>A p.R527H Substitution - Missense Breast COSM258061 SMARCD3 c.465G>A p.A155A Substitution - coding silent Large_intestine COSM279877 CHD9 c.7625G>T p.R2542I Substitution - Missense Large_intestine COSM276282 NCOA5 c.94C>T p.R32* Substitution - Nonsense Large_intestine COSM278918 APOBEC1 c.436G>A p.A146T Substitution - Missense Large_intestine COSM305396 MSL3 c.417G>A p.K139K Substitution - coding silent Central_nervous_system COSM341330 SMYD1 c.996C>A p.C332* Substitution - Nonsense Lung COSM335249 MLL5 c.2787C>T p.P929P Substitution - coding silent Lung COSM404394 TDRD5 c.1172C>G p.P391R Substitution - Missense Lung COSM1496976 PHF19 c.1019G>A p.R340H Substitution - Missense Kidney COSM431199 KMT2D c.10721G>T p.G3574V Substitution - Missense Breast COSM451965 ZCWPW1 c.593C>A p.S198Y Substitution - Missense Breast COSM478136 ACTR5 c.1459C>A p.L487M Substitution - Missense Kidney COSM477054 SP140 c.23G>A p.G8E Substitution - Missense Kidney COSM979602 EZH1 c.1250C>A p.P417Q Substitution - Missense Endometrium COSM600214 KMT2C c.6148C>T p.P2050S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM918666 ERCC6 c.2045T>G p.L682R Substitution - Missense Endometrium COSM954448 CHD8 c.1952G>A p.R651Q Substitution - Missense Breast COSM940000 KMT2D c.12013_12014insT p.Q4005fs*59 Insertion - Frameshift Endometrium COSM758301 BRWD3 c.1746C>A p.H582Q Substitution - Missense Lung COSM744653 SND1 c.2403C>T p.I801I Substitution - coding silent Lung COSM757233 KDM6A c.2832+1G>A p.? Unknown Stomach COSM907765 ARID1A c.6762C>G p.Y2254* Substitution - Nonsense Liver COSM912608 RERE c.1122C>T p.Y374Y Substitution - coding silent Endometrium COSM1043486 ZCWPW2 c.395G>A p.G132E Substitution - Missense Skin COSM1061367 KDM3B c.4731C>T p.I1577I Substitution - coding silent Endometrium COSM1078480 BRPF3 c.166G>A p.D56N Substitution - Missense Endometrium COSM1118562 RBBP7 c.1024A>C p.N342H Substitution - Missense Endometrium COSM1118564 RBBP7 c.781A>C p.T261P Substitution - Missense Endometrium COSM1125388 ATRX c.7295C>T p.T2432I Substitution - Missense Endometrium COSM1087033 EZH2 c.2233G>A p.E745K Substitution - Missense Stomach COSM1209351 HCFC2 c.716G>T p.G239V Substitution - Missense Large_intestine COSM1209405 HDAC9 c.28G>A p.V10M Substitution - Missense Large_intestine COSM1180827 GTF3C1 c.2299delA p.S767fs*7 Deletion - Frameshift Large_intestine COSM1180830 CTCF c.603_604insA p.T204fs*26 Insertion - Frameshift Large_intestine COSM1213486 LMNA c.752A>G p.Q251R Substitution - Missense Large_intestine COSM1168999 SMARCC1 c.2472G>A p.V824V Substitution - coding silent Pancreas COSM1212950 L3MBTL4 c.1420A>G p.I474V Substitution - Missense Large_intestine COSM1211737 KDM4B c.1046C>T p.A349V Substitution - Missense Large_intestine COSM1211750 KDM4D c.386G>A p.R129H Substitution - Missense Large_intestine COSM1315522 KDM6A c.4074C>A p.C1358* Substitution - Nonsense Urinary_tract COSM1313190 ACTB c.472G>A p.G158R Substitution - Missense Urinary_tract COSM1304319 DOT1L c.2710G>A p.V904M Substitution - Missense Urinary_tract COSM1293056 ZMYM3 c.3905T>C p.F1302S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1295152 PYGO2 c.346C>T p.P116S Substitution - Missense Urinary_tract COSM1323749 CHD2 c.2030A>C p.D677A Substitution - Missense Ovary COSM1318947 DNMT3A c.2486A>G p.K829R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1448372 TIF1 c.1339C>T p.P447S Substitution - Missense Large_intestine COSM1465247 ZBTB33 c.587delT p.C198fs*43 Deletion - Frameshift Large_intestine COSM1361683 ARID2 c.1277C>T p.T426M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1360402 ATF7IP c.3680C>T p.A1227V Substitution - Missense Large_intestine COSM1540162 WHSC1 c.3294C>T p.D1098D Substitution - coding silent Oesophagus COSM1476829 CHD4 c.4812T>C p.D1604D Substitution - coding silent Breast COSM1476847 CHD4 c.355_357delAAG p.K119delK Deletion - In frame Breast COSM1616071 BRWD1 c.4030T>G p.L1344V Substitution - Missense Liver COSM1630033 PRDM7 c.16_18delTTC p.F6delF Deletion - In frame Liver COSM1578560 EP300 c.2777delC p.P927fs*19 Deletion - Frameshift Meninges COSM1626409 SETDB1 c.3447G>C p.K1149N Substitution - Missense Liver COSM1635110 SND1 c.2634C>G p.Y878* Substitution - Nonsense Liver COSM1639808 ARID1A c.822delG p.G276fs*87 Deletion - Frameshift Pancreas COSM1713785 DIDO1 c.2914C>T p.P972S Substitution - Missense Skin COSM1716411 CTCF c.1437delC p.Y480fs*31 Deletion - Frameshift Endometrium COSM1665760 SMARCB1 c.1029delG p.G344fs*13 Deletion - Frameshift Kidney COSM1742455 KMT2A c.5835C>G p.C1945W Substitution - Missense Urinary_tract COSM2078234 PRDM16 c.1090C>T p.R364W Substitution - Missense Skin COSM2078562 PRDM16 c.3300C>T p.I1100I Substitution - coding silent Skin COSM2155629 ATRX c.5529G>C p.Q1843H Substitution - Missense Central_nervous_system COSM2251494 SMEK1 c.718C>T p.L240L Substitution - coding silent Large_intestine COSM2795462 SMARCD2 c.74G>A p.R25Q Substitution - Missense Stomach COSM3304376 KMT2C c.2769+1G>T p.? Unknown Breast COSM3296137 MBD5 c.1536C>T p.S512S Substitution - coding silent Skin COSM3364024 HDAC6 c.2930G>A p.G977D Substitution - Missense Kidney COSM3371127 DNMT1 c.2116G>A p.D706N Substitution - Missense Thyroid COSM3479301 TDRD5 c.1553G>A p.R518Q Substitution - Missense Skin COSM3460674 KDM5A c.2315A>C p.D772A Substitution - Missense Skin COSM3463542 BAZ2A c.1971C>T p.F657F Substitution - coding silent Skin COSM3555671 HDAC10 c.948G>A p.M316I Substitution - Missense Skin COSM3560203 SCML2 c.1998C>T p.F666F Substitution - coding silent Skin COSM3519942 AKAP1 c.2148C>T p.N716N Substitution - coding silent Skin COSM3657688 KIAA2026_ENST00000399933 c.5922T>C p.S1974S Substitution - coding silent Skin COSM3699155 PRDM14 c.158T>G p.F53C Substitution - Missense Large_intestine COSM3758251 MSH6 c.186C>A p.R62R Substitution - coding silent Large_intestine COSM3767283 ZBTB38 c.1239T>C p.P413P Substitution - coding silent Liver COSM3799615 ZMYND8 c.1264G>C p.D422H Substitution - Missense Urinary_tract COSM3818894 NCOR1 c.1083-1G>A p.? Unknown Breast COSM3935973 KMT2D c.8866C>T p.P2956S Substitution - Missense Oesophagus COSM3932363 CHD9 c.2776G>C p.E926Q Substitution - Missense Urinary_tract COSM3839138 NCOA1 c.3078A>C p.T1026T Substitution - coding silent Breast COSM3822192 MBD3 c.429G>A p.L143L Substitution - coding silent Breast COSM3907626 KDM4C c.765T>C p.Y255Y Substitution - coding silent Stomach COSM3904549 SET c.702A>T p.E234D Substitution - Missense Breast COSM4003675 NCOA7 c.1195T>G p.S399A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4096165 SMYD1 c.1137C>G p.D379E Substitution - Missense Stomach COSM4104699 PHF21B c.1447C>T p.R483W Substitution - Missense Stomach COSM4064349 RAI1 c.2908G>A p.A970T Substitution - Missense Stomach COSM4162022 KMT2C c.1131A>T p.P377P Substitution - coding silent Thyroid COSM4157332 ZBTB38 c.2790G>T p.Q930H Substitution - Missense Thyroid COSM4157416 MECOM c.1728A>C p.T576T Substitution - coding silent Thyroid COSM4170168 TET2 c.3821_3822delAG p.Q1274fs*25 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4388305 LMNB2 c.930C>T p.A310A Substitution - coding silent Pancreas COSM4443912 BPTF c.1328C>T p.T443I Substitution - Missense Large_intestine COSM4425185 SMARCA4 c.1207G>A p.E403K Substitution - Missense Oesophagus COSM4554082 NSD1 c.6107G>A p.G2036E Substitution - Missense Skin COSM4520276 PRMT8 c.1050G>A p.R350R Substitution - coding silent Skin COSM4450625 KMT2C c.7307delC p.P2436fs*16 Deletion - Frameshift Large_intestine COSM4482791 HDAC9 c.2640C>T p.G880G Substitution - coding silent Oesophagus COSM4702529 MLL5 c.1732G>T p.E578* Substitution - Nonsense Large_intestine COSM4717877 PRMT2 c.1162G>A p.V388M Substitution - Missense Large_intestine COSM4770177 PBRM1 c.4576+5_4576+6insGAG p.? Unknown Soft_tissue COSM4681129 EP400 c.6607G>A p.D2203N Substitution - Missense Large_intestine COSM4765266 CTCF c.604_605insA p.T204fs*26 Insertion - Frameshift Biliary_tract COSM4735459 TP53BP1 c.1176G>T p.M392I Substitution - Missense Large_intestine COSM4746831 ARID1A c.5589_5590delAG p.E1864fs*36 Deletion - Frameshift Biliary_tract COSM4908593 DNMT3A c.2204A>C p.Y735S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4912791 JHDM1D c.920C>T p.T307I Substitution - Missense Liver COSM4852631 KDM6A c.2342C>A p.S781Y Substitution - Missense Cervix COSM4951256 KMT2D c.9935G>T p.R3312L Substitution - Missense Liver COSM4950372 EP400 c.9143G>T p.G3048V Substitution - Missense Liver COSM4984736 PHF17 c.697-1G>A p.? Unknown Oesophagus COSM5028681 NCOA6 c.3198G>T p.Q1066H Substitution - Missense Breast COSM5014728 MLL5 c.1220T>A p.I407N Substitution - Missense Kidney COSM5504961 TDRD6 c.115C>T p.R39W Substitution - Missense Biliary_tract COSM5510645 SETD1B c.475C>T p.L159L Substitution - coding silent Biliary_tract COSM5504432 LMNB2 c.1784G>T p.R595I Substitution - Missense Biliary_tract COSM5496173 SMARCA2 c.651A>G p.Q217Q Substitution - coding silent Biliary_tract COSM5627168 GATAD2B c.952A>G p.M318V Substitution - Missense Oesophagus COSM5649818 TAF3 c.739C>G p.P247A Substitution - Missense Oesophagus COSM5594358 CBX8 c.873C>T p.F291F Substitution - coding silent Skin COSM5679902 KDM4C c.3113C>T p.P1038L Substitution - Missense Soft_tissue COSM5752821 ARID1B c.1982_1983insG p.S665fs*27 Insertion - Frameshift Breast COSM5550594 PRMT1 c.305C>T p.A102V Substitution - Missense Prostate COSM5773636 DOT1L c.1183C>T p.R395C Substitution - Missense Breast COSM5792373 KMT2A c.11631C>A p.S3877R Substitution - Missense Breast COSM5878752 DNMT3A c.2389A>G p.N797D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5944284 TET2 c.3259_3260delTC p.S1087fs*16 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5912674 PHF14 c.2170G>A p.V724I Substitution - Missense Skin COSM5986163 PHF21B c.408C>T p.P136P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5985140 ASH1L c.5843C>G p.P1948R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM253388 DNMT3A c.? p.R887I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM51384 IDH1 c.? p.R132L Substitution - Missense Central_nervous_system COSM5347190 ARID1A c.?_?del? p.G1847fs*? Deletion - Frameshift Endometrium COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM42053 TET2 c.2101C>T p.Q701* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41709 TET2 c.4317_4318insA p.R1440fs*38 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1238064 CREBBP c.? p.? Unknown Soft_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM226926 BAZ2B c.1390A>G p.T464A Substitution - Missense Skin COSM1106566 WDR5 c.274G>A p.D92N Substitution - Missense Endometrium COSM5927059 ASXL1 c.887G>A p.G296E Substitution - Missense Skin COSM86082 KMT2C c.2418C>G p.S806S Substitution - coding silent Soft_tissue COSM5205940 KDM3B c.2137delG p.G714fs*81 Deletion - Frameshift Breast COSM1377472 SRCAP c.4077T>C p.G1359G Substitution - coding silent Large_intestine COSM4949622 ARID1A c.5506G>T p.E1836* Substitution - Nonsense Endometrium COSM5784207 ARID1A c.1870G>C p.G624R Substitution - Missense Breast COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM729704 FXR1 c.1282G>A p.D428N Substitution - Missense Lung COSM2158449 JMJD1C c.3934A>C p.N1312H Substitution - Missense Large_intestine COSM4597530 MECOM c.415-1G>T p.? Unknown Upper_aerodigestive_tract COSM132992 ARID1A c.6259G>A p.G2087R Substitution - Missense Endometrium COSM4446469 MBD5 c.114-3C>A p.? Unknown Skin COSM5989924 TET2 c.3505G>A p.G1169R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM291038 L3MBTL2 c.1564G>A p.A522T Substitution - Missense Large_intestine COSM1169164 SMARCA2 c.1250G>A p.R417Q Substitution - Missense Pancreas COSM1187873 EHMT1 c.3641G>T p.R1214L Substitution - Missense Lung COSM1330331 ATAD2 c.3160G>C p.D1054H Substitution - Missense Ovary COSM3375602 KMT2A c.7291A>G p.K2431E Substitution - Missense Pancreas COSM5810207 WHSC1 c.1397A>T p.K466I Substitution - Missense Liver COSM1756620 SMC1A c.907G>A p.E303K Substitution - Missense Urinary_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4964307 KAT6B c.2829G>A p.Q943Q Substitution - coding silent Pancreas COSM384503 ACTB c.484A>G p.T162A Substitution - Missense Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM4511716 KMT2D c.7978C>T p.P2660S Substitution - Missense Skin COSM196940 PHIP c.2113G>A p.A705T Substitution - Missense Lung COSM4590120 KDM4B c.2128A>G p.K710E Substitution - Missense Upper_aerodigestive_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM5024262 MLL5 c.67T>C p.S23P Substitution - Missense Bone COSM4579484 RAI1 c.225_227delCGA p.D76delD Deletion - In frame Bone COSM3205844 ACTL6A c.131T>C p.V44A Substitution - Missense Large_intestine COSM5684892 KDM3B c.4233A>T p.Q1411H Substitution - Missense Soft_tissue COSM5990958 ACTA1 c.116G>A p.R39H Substitution - Missense Prostate COSM5752612 NCOR1 c.6121C>T p.Q2041* Substitution - Nonsense Breast COSM3995648 ACTB c.1033A>C p.I345L Substitution - Missense Upper_aerodigestive_tract COSM285278 SP100 c.1742C>A p.P581H Substitution - Missense Large_intestine COSM3931755 PHC1 c.1789C>A p.P597T Substitution - Missense Urinary_tract COSM4117705 SETMAR c.723A>G p.V241V Substitution - coding silent Stomach COSM1331519 KDM4C c.2034G>A p.S678S Substitution - coding silent Ovary COSM1238792 EPC1 c.1579C>T p.R527W Substitution - Missense Oesophagus COSM5676064 L3MBTL4 c.1527G>T p.T509T Substitution - coding silent Soft_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Skin COSM4766088 TET2 c.5348_5348delA p.N1784fs*36 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM3727924 ARID1A c.1690_1691insC p.Q564fs*59 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2006701 KMT2D c.13841C>T p.P4614L Substitution - Missense Large_intestine COSM1746526 SUV420H1 c.1115A>G p.D372G Substitution - Missense Urinary_tract COSM1679859 HDAC5 c.3263C>T p.A1088V Substitution - Missense Large_intestine COSM1478137 TP53BP1 c.5444A>G p.Y1815C Substitution - Missense Breast COSM3850171 PHF15 c.78C>T p.S26S Substitution - coding silent Stomach COSM417767 CARM1 c.1775C>A p.S592Y Substitution - Missense Urinary_tract COSM4945388 SETD1A c.3031A>T p.S1011C Substitution - Missense Liver COSM3528441 SMARCA4 c.4383G>C p.K1461N Substitution - Missense Skin COSM5878878 DNMT3A c.692delA p.Q231fs*85 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM231543 ARID2 c.2872_2873insA p.T959fs*9 Insertion - Frameshift Skin COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5952769 TRIM66 c.3118C>T p.P1040S Substitution - Missense Oesophagus COSM4383797 TET2 c.1262delA p.G422fs*5 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4757755 KAT6B c.3537A>C p.E1179D Substitution - Missense Stomach COSM5422190 KDM6B c.1836C>G p.S612S Substitution - coding silent Prostate COSM1388224 AP001011.3_ENST00000320876 c.341G>A p.R114Q Substitution - Missense Large_intestine COSM4952082 TBL1XR1 c.142G>T p.A48S Substitution - Missense Liver COSM1560994 RNF134 c.83_84insGCCTCC p.P28_V29insPP Insertion - In frame Large_intestine COSM1642642 HDAC3 c.273C>T p.G91G Substitution - coding silent Stomach COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Prostate COSM5380570 EYA3 c.637C>T p.P213S Substitution - Missense Skin COSM1211747 KDM4C c.2167G>A p.V723I Substitution - Missense Large_intestine COSM5716624 ZCWPW1 c.481G>A p.E161K Substitution - Missense Skin COSM972490 CTCF c.1342C>T p.R448* Substitution - Nonsense Endometrium COSM5423657 UHRF2 c.2137G>C p.V713L Substitution - Missense Prostate COSM991719 MUM1 c.212C>T p.S71L Substitution - Missense Endometrium COSM5971772 MYST1 c.1040G>A p.G347D Substitution - Missense Upper_aerodigestive_tract COSM3300279 BAZ2B c.2365T>C p.Y789H Substitution - Missense Large_intestine COSM5568911 NIPBL c.253A>G p.S85G Substitution - Missense Prostate COSM4672071 CHD6 c.2870G>A p.R957Q Substitution - Missense Large_intestine COSM188277 MYST3 c.2591G>A p.R864Q Substitution - Missense Kidney COSM2844372 SETD4 c.227C>T p.S76L Substitution - Missense Large_intestine COSM3736157 SMYD4 c.706G>A p.G236S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1416290 CBX6 c.1194A>G p.V398V Substitution - coding silent Large_intestine COSM5645834 KDM2B c.686G>T p.G229V Substitution - Missense Oesophagus COSM4170209 DNMT3A c.2320G>T p.E774* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1034596 L3MBTL2 c.2059G>A p.A687T Substitution - Missense Endometrium COSM433837 MGA c.7681A>G p.K2561E Substitution - Missense Breast COSM4975313 SETD1A c.2551G>C p.E851Q Substitution - Missense Oesophagus COSM1479895 BPTF c.427_429delGAG p.E148delE Deletion - In frame Bone COSM51976 BAP1 c.507C>G p.H169Q Substitution - Missense Biliary_tract COSM4411250 DPF1 c.739A>T p.I247F Substitution - Missense Kidney COSM3730028 DNMT1 c.2828delC p.P943fs*14 Deletion - Frameshift Stomach COSM5051076 KDM2A c.1971C>T p.D657D Substitution - coding silent Stomach COSM5149841 KDM4B c.2679C>T p.D893D Substitution - coding silent Large_intestine COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4404587 ZMYM6 c.217T>G p.S73A Substitution - Missense Skin COSM1165177 PRDM16 c.2089G>A p.A697T Substitution - Missense Large_intestine COSM5805777 TIF1 c.1434G>A p.P478P Substitution - coding silent Liver COSM3618952 CHD1 c.4634C>T p.S1545F Substitution - Missense Skin COSM4064266 SMYD4 c.1791C>T p.C597C Substitution - coding silent Stomach COSM3563686 BRWD3 c.1429G>A p.D477N Substitution - Missense Skin COSM5487395 TET2 c.5393C>A p.S1798* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM985847 BAHCC1 c.1532C>T p.P511L Substitution - Missense Oesophagus COSM5724107 KMT2A c.34C>T p.R12* Substitution - Nonsense Skin COSM1727937 PBRM1 c.268C>T p.Q90* Substitution - Nonsense Liver COSM3730486 MYST3 c.2934G>A p.R978R Substitution - coding silent Stomach COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4077674 DPF1 c.667A>G p.T223A Substitution - Missense Stomach COSM252979 CLOCK c.368delT p.L123fs*1 Deletion - Frameshift Large_intestine COSM5353821 KDM3A c.284delT p.L96fs*1 Deletion - Frameshift Large_intestine COSM5499281 CHD3 c.1612_1613insCC p.R540fs*17 Insertion - Frameshift Biliary_tract COSM1322947 MPHOSPH8 c.1933-9_1962del39 p.? Unknown Ovary COSM5734439 ASXL1 c.3633_3636delCTCC p.L1213fs*3 Deletion - Frameshift Pancreas COSM4630594 EYA2 c.722C>A p.P241Q Substitution - Missense Large_intestine COSM5807419 PHF21A c.1082A>T p.E361V Substitution - Missense Liver COSM1602274 ZMYM4 c.3434-4A>G p.? Unknown Liver COSM1426602 PRDM5 c.856G>A p.V286I Substitution - Missense Large_intestine COSM77463 CHD6 c.3272G>A p.R1091H Substitution - Missense Stomach COSM290088 ZCWPW1 c.588G>A p.K196K Substitution - coding silent Large_intestine COSM3583821 KDM3A c.3020T>C p.V1007A Substitution - Missense Skin COSM5360089 ZMYND11 c.1059A>C p.P353P Substitution - coding silent Large_intestine COSM4143735 ARID1A c.516A>C p.Q172H Substitution - Missense Thyroid COSM4272963 CHD3 c.4583C>T p.S1528F Substitution - Missense Skin COSM4840432 CBX3 c.185A>C p.E62A Substitution - Missense Cervix COSM1737878 ASXL1 c.1894_1895insT p.C632fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5752708 ARID1B c.3109G>T p.E1037* Substitution - Nonsense Breast COSM41293 IDH1 c.? p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1108526 KIAA1045 c.9G>A p.V3V Substitution - coding silent Endometrium COSM140517 CHD1 c.5020G>T p.G1674C Substitution - Missense Skin COSM5013252 CBX2 c.580G>T p.G194W Substitution - Missense Kidney COSM3608978 KDM3B c.2054C>T p.S685F Substitution - Missense Skin COSM1694318 GABRG1 c.98G>A p.G33E Substitution - Missense Skin COSM5901754 PRDM10 c.587C>T p.P196L Substitution - Missense Skin COSM4171092 EP300 c.2003C>T p.S668F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1615600 CHD6 c.1962T>G p.A654A Substitution - coding silent Liver COSM480647 BRPF1 c.3609G>T p.Q1203H Substitution - Missense Kidney COSM1030470 SETD4 c.629A>G p.Y210C Substitution - Missense Endometrium COSM1341426 ARID1A c.5542delG p.D1850fs*33 Deletion - Frameshift Large_intestine COSM1618223 TET2 c.1241A>T p.Q414L Substitution - Missense Liver COSM3923316 HDAC9 c.1935G>A p.L645L Substitution - coding silent Skin COSM3923316 HDAC9 c.1935G>A p.L645L Substitution - coding silent Skin COSM4728277 SMARCA2 c.2516T>G p.I839S Substitution - Missense Large_intestine COSM1244519 ADNP c.2872G>C p.D958H Substitution - Missense Stomach COSM1228402 TAF1 c.4277A>G p.D1426G Substitution - Missense Large_intestine COSM462671 TRIM33 c.1619C>A p.P540Q Substitution - Missense Kidney COSM247462 SMARCA2 c.3410C>T p.A1137V Substitution - Missense Prostate COSM4110035 KDM5C c.4489G>C p.E1497Q Substitution - Missense Stomach COSM1220385 PHF6 c.351G>T p.E117D Substitution - Missense Large_intestine COSM5559448 MYST2 c.1593G>A p.L531L Substitution - coding silent Prostate COSM5927452 ACTB c.409C>T p.Q137* Substitution - Nonsense Skin COSM1087435 SMARCD3 c.981C>T p.V327V Substitution - coding silent Endometrium COSM5621806 SETD2 c.4039C>T p.R1347C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3860000 ARID1B c.5750C>T p.A1917V Substitution - Missense Stomach COSM3671013 EP400 c.1743G>T p.P581P Substitution - coding silent Prostate COSM3648833 WHSC1L1 c.429G>T p.V143V Substitution - coding silent Skin COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5666141 KMT2C c.11460+1G>A p.? Unknown Soft_tissue COSM1066239 NSD1 c.3430G>A p.E1144K Substitution - Missense Endometrium COSM110721 BAP1 c.178C>T p.R60* Substitution - Nonsense Eye COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3188371 KAT2A c.2134C>T p.R712* Substitution - Nonsense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4603233 DIDO1 c.4878_4879insC p.A1627fs*53 Insertion - Frameshift Upper_aerodigestive_tract COSM5503581 TAF3 c.2568+7A>T p.? Unknown Biliary_tract COSM485095 KMT2C c.3309T>A p.C1103* Substitution - Nonsense Kidney COSM3812601 BAZ2A_ENST00000379441 c.3995G>T p.C1332F Substitution - Missense Breast COSM4512666 BAHD1 c.910C>T p.L304L Substitution - coding silent Skin COSM1416497 EP300 c.6772C>T p.Q2258* Substitution - Nonsense Large_intestine COSM5944303 EZH2 c.2232delC p.I744fs*>8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3741938 BRD7 c.1444-4A>G p.? Unknown Liver COSM133124 DNMT3A c.1906G>A p.V636M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3788785 ASH1L c.7552G>A p.E2518K Substitution - Missense Urinary_tract COSM71284 KDM5C c.2735G>A p.G912E Substitution - Missense Liver COSM4803088 PHRF1 c.3650C>G p.T1217S Substitution - Missense Liver COSM308641 BRD8 c.2250-3_2250-2insT p.? Unknown Lung COSM744287 MLL5 c.4730C>T p.S1577F Substitution - Missense Lung COSM4387444 BAP1 c.1918_1919insGG p.E640fs*16 Insertion - Frameshift Eye COSM3998821 KMT2D c.908T>C p.L303P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1626158 BRWD3 c.2476-2A>G p.? Unknown Liver COSM5343779 EPC2 c.877A>G p.K293E Substitution - Missense Large_intestine COSM2890650 PRMT2 c.275A>G p.D92G Substitution - Missense Large_intestine COSM3559632 HCFC1 c.2300C>T p.A767V Substitution - Missense Skin COSM3721155 CBX4 c.1630G>A p.D544N Substitution - Missense Upper_aerodigestive_tract COSM5945063 TET2 c.4535C>T p.A1512V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2145472 ERCC6 c.1596T>C p.D532D Substitution - coding silent Upper_aerodigestive_tract COSM955454 BAZ1A c.4438C>T p.R1480C Substitution - Missense Large_intestine COSM4991224 SMARCA4 c.2536C>T p.P846S Substitution - Missense Skin COSM52947 IDH2 c.? p.R172? Substitution - Missense Central_nervous_system COSM367496 ASH2L c.1275C>G p.I425M Substitution - Missense Lung COSM1755006 MLL5 c.653C>T p.S218L Substitution - Missense Urinary_tract COSM1409836 KDM3A c.1664G>A p.R555H Substitution - Missense Large_intestine COSM3723756 SUV39H2 c.728C>T p.T243M Substitution - Missense Upper_aerodigestive_tract COSM1720117 PRDM14 c.1316G>A p.R439Q Substitution - Missense Skin COSM750806 NCOA2 c.1633G>A p.G545R Substitution - Missense Lung COSM385657 TP53BP1 c.1435G>A p.D479N Substitution - Missense Lung COSM13388 MSH6 c.423C>A p.G141G Substitution - coding silent Endometrium COSM2153636 PRDM12 c.84C>T p.I28I Substitution - coding silent Central_nervous_system COSM4904634 CDYL2 c.523C>T p.H175Y Substitution - Missense Skin COSM52947 IDH2 c.? p.R172? Substitution - Missense Bone COSM990747 SMARCA4 c.2578T>C p.Y860H Substitution - Missense Endometrium COSM1495753 SMARCA5 c.1365A>G p.K455K Substitution - coding silent Kidney COSM5492163 ARID1B c.1023delG p.G343fs*29 Deletion - Frameshift Biliary_tract COSM6005475 KMT2C c.13588G>C p.D4530H Substitution - Missense Breast COSM4465594 MSL3 c.1390C>T p.P464S Substitution - Missense Skin COSM5883771 MECOM c.1935A>T p.K645N Substitution - Missense Large_intestine COSM5599342 CREBBP c.7047C>T p.V2349V Substitution - coding silent Skin COSM1017610 SP140_ENST00000392045 c.2018G>T p.R673I Substitution - Missense Endometrium COSM23021 MEN1 c.1327T>C p.S443P Substitution - Missense Parathyroid COSM454392 ELP3 c.903C>T p.F301F Substitution - coding silent Breast COSM4611246 TAF1L c.4421delA p.N1474fs*12 Deletion - Frameshift Large_intestine COSM41649 TET2 c.4075C>T p.R1359C Substitution - Missense Cervix COSM3731923 NCOA3 c.3947-4T>C p.? Unknown Stomach COSM1230820 TTF2 c.2647A>G p.S883G Substitution - Missense Large_intestine COSM5611650 SP100 c.387C>T p.V129V Substitution - coding silent Adrenal_gland COSM1936583 BAZ2A c.2250G>C p.K750N Substitution - Missense Upper_aerodigestive_tract COSM96354 BAP1 c.1604_1604delA p.D535fs*36 Deletion - Frameshift Pleura COSM932765 TRIM66 c.1358C>A p.P453Q Substitution - Missense Endometrium COSM3719816 ZMYM3 c.3899A>G p.Y1300C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4591023 KMT2C c.871C>T p.L291F Substitution - Missense Upper_aerodigestive_tract COSM5878845 DNMT3A c.1238_1239insG p.F414fs*7 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM423107 PBRM1 c.2799delT p.S934fs*80 Deletion - Frameshift Kidney COSM5981801 PRMT2 c.479G>A p.R160Q Substitution - Missense Upper_aerodigestive_tract COSM5001560 BRD8 c.1732G>T p.A578S Substitution - Missense Pancreas COSM422820 PBRM1 c.3640G>T p.E1214* Substitution - Nonsense Kidney COSM4020863 TRIM33 c.1466A>T p.N489I Substitution - Missense Stomach COSM1683137 DNMT3A c.2571delC p.D857fs*24 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1161850 WHSC1 c.581G>T p.S194I Substitution - Missense Kidney COSM3396780 BAG6 c.325C>G p.H109D Substitution - Missense Breast COSM1735694 KMT2D c.? p.? Substitution - Missense Central_nervous_system COSM51472 ARID1A c.120_145del26 p.A41fs*61 Deletion - Frameshift Ovary COSM940046 KMT2D c.6762G>A p.T2254T Substitution - coding silent Endometrium COSM3963203 SMYD1 c.933T>A p.D311E Substitution - Missense Lung COSM5582501 SIRT6 c.327C>T p.F109F Substitution - coding silent Skin COSM70664 EYA1 c.116G>A p.G39D Substitution - Missense Ovary COSM3465561 APOBEC1 c.54C>T p.I18I Substitution - coding silent Skin COSM4109545 KDM6A c.495A>C p.R165R Substitution - coding silent Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM314661 RAD54L c.1044G>A p.G348G Substitution - coding silent Soft_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5945797 BAP1 c.? p.R512fs*59 Frameshift Pleura COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5410002 TDRD7 c.1590A>G p.L530L Substitution - coding silent Skin COSM985432 CHD3 c.1027C>T p.R343C Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1035241 BRD1 c.1913G>A p.C638Y Substitution - Missense Endometrium COSM5961975 MEN1 c.358A>T p.K120* Substitution - Nonsense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5618559 HDAC4 c.2239G>C p.V747L Substitution - Missense Breast COSM5647445 HDAC9 c.2782G>C p.G928R Substitution - Missense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2692779 CDYL2 c.463G>A p.G155R Substitution - Missense Upper_aerodigestive_tract COSM1179000 SMARCA2 c.3558G>A p.A1186A Substitution - coding silent Prostate COSM4023039 ASH1L c.7523C>T p.A2508V Substitution - Missense Stomach COSM1303969 SMARCA4 c.98G>A p.G33D Substitution - Missense Urinary_tract COSM708170 SMCHD1 c.2352G>T p.R784S Substitution - Missense Lung COSM4396491 JHDM1D c.2784C>T p.I928I Substitution - coding silent Skin COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM1716555 ASXL1 c.1954G>A p.G652S Substitution - Missense Soft_tissue COSM4653286 CHD6 c.6653A>G p.D2218G Substitution - Missense Large_intestine COSM5708543 MECOM c.2335C>T p.H779Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1194517 ATAD2 c.3920A>C p.Q1307P Substitution - Missense Lung COSM6011944 KDM3B c.3615G>C p.L1205L Substitution - coding silent Skin COSM4817865 KDM4B c.1255G>A p.E419K Substitution - Missense Skin COSM3875086 PHF3 c.3046G>A p.E1016K Substitution - Missense Stomach COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM4031530 PRDM16 c.1259G>A p.R420H Substitution - Missense Stomach COSM4946472 PHF16 c.1600T>C p.Y534H Substitution - Missense Liver COSM5479808 L3MBTL4 c.281A>G p.D94G Substitution - Missense Large_intestine COSM4603312 EP400 c.8184_8185insCAG p.Q2748_T2749insQ Insertion - In frame Upper_aerodigestive_tract COSM3097071 ATRX c.3646A>G p.I1216V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2753934 KDM4B c.490G>A p.E164K Substitution - Missense Large_intestine COSM3834738 MYST3 c.1301C>G p.S434C Substitution - Missense Breast COSM3805097 MEAF6 c.275C>T p.S92F Substitution - Missense Breast COSM41899 TET2 c.? p.S1848* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM448194 PRDM8 c.589G>A p.V197M Substitution - Missense Breast COSM133719 DNMT3A c.2246_2249delGCCC p.R749fs*29 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3917188 SETD7 c.783C>T p.A261A Substitution - coding silent Bone COSM4165167 ZMYM1 c.1147-8T>C p.? Unknown Kidney COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Endometrium COSM165983 ARID1B c.5409_5444del36 p.G1804_H1815del12 Deletion - In frame Breast COSM4590338 SIRT6 c.671A>C p.N224T Substitution - Missense Upper_aerodigestive_tract COSM4633725 ING4 c.326C>T p.A109V Substitution - Missense Large_intestine COSM3371238 DOT1L c.3161G>A p.G1054D Substitution - Missense Thyroid COSM132968 ASXL1 c.? p.E635fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM3390403 SMARCA1 c.2565-4C>T p.? Unknown Pancreas COSM4111140 ATRX c.4047C>A p.D1349E Substitution - Missense Stomach COSM21330 TRRAP c.2544G>T p.T848T Substitution - coding silent Ovary COSM249806 DNMT3A c.1851+23G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM37030 EZH2 c.1936T>C p.Y646H Substitution - Missense Salivary_gland COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM30589 SMARCA4 c.3254_3270del17 p.L1085fs*32 Deletion - Frameshift Lung COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43395 SETD2 c.2267G>T p.G756V Substitution - Missense Kidney COSM41875 IDH2 c.419G>T p.R140L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53021 EZH2 c.2191T>G p.Y731D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96484 TET2 c.3430G>A p.E1144K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96485 TET2 c.651_651delC p.V218fs*32 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM97867 KDM3B c.5051C>T p.P1684L Substitution - Missense Upper_aerodigestive_tract COSM96469 CREBBP c.5933A>G p.N1978S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM139925 KDM4D c.827C>T p.P276L Substitution - Missense Skin COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Central_nervous_system COSM149378 SETD2 c.1731G>A p.M577I Substitution - Missense Large_intestine COSM147636 EP400 c.4758A>G p.P1586P Substitution - coding silent Stomach COSM165659 ZBTB4 c.851C>T p.S284L Substitution - Missense Breast COSM211736 TET2 c.4636C>T p.Q1546* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM212182 KAT6B c.3761G>A p.R1254H Substitution - Missense Endometrium COSM211684 TET2 c.1876C>T p.Q626* Substitution - Nonsense Soft_tissue COSM217036 ARID1A c.3817_3841del25 p.G1274fs*7 Deletion - Frameshift Liver COSM234850 KAT2A c.628C>T p.L210L Substitution - coding silent Skin COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Central_nervous_system COSM268237 PCNA c.581C>T p.A194V Substitution - Missense Large_intestine COSM255286 CREBBP c.1621C>T p.Q541* Substitution - Nonsense Central_nervous_system COSM255101 MEN1 c.90_140del51 p.E30_F47>D Complex - deletion inframe Parathyroid COSM251051 NCOA5 c.610G>A p.V204M Substitution - Missense Liver COSM257800 PRDM16 c.1873C>A p.L625M Substitution - Missense Large_intestine COSM276010 MBD5 c.3425C>T p.A1142V Substitution - Missense Large_intestine COSM277231 SETBP1 c.354G>T p.K118N Substitution - Missense Endometrium COSM273281 AP001011.3_ENST00000320876 c.5213C>T p.A1738V Substitution - Missense Large_intestine COSM377193 ATAD2B_ENST00000238789 c.3263C>T p.S1088L Substitution - Missense Lung COSM379334 WHSC1 c.3295G>A p.E1099K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM399544 BRPF3 c.642C>T p.F214F Substitution - coding silent Lung COSM393982 EYA2 c.290C>T p.P97L Substitution - Missense Lung COSM457084 HCFC1 c.1273C>T p.R425W Substitution - Missense Breast COSM487409 KIAA1045 c.214A>G p.S72G Substitution - Missense Kidney COSM2270955 DNMT3A c.994G>A p.G332R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM534555 ARID1A c.1303C>T p.Q435* Substitution - Nonsense Ovary COSM920063 SFMBT2 c.1307G>A p.R436Q Substitution - Missense Endometrium COSM745853 KMT2C c.3421C>T p.P1141S Substitution - Missense Lung COSM1716784 TET2 c.3501-1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM731110 BAP1 c.51G>T p.L17L Substitution - coding silent Lung COSM896904 ASH1L c.8163C>T p.H2721H Substitution - coding silent Endometrium COSM1602134 ARID1A c.666delC p.P224fs*8 Deletion - Frameshift Liver COSM1067687 NIPBL c.5018G>A p.R1673H Substitution - Missense Endometrium COSM1072930 NCOA7 c.1506G>A p.S502S Substitution - coding silent Endometrium COSM1080972 PHF3 c.5765G>T p.R1922I Substitution - Missense Endometrium COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1250488 DNMT1 c.1601C>T p.T534M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1244199 ACTR8 c.1174T>G p.L392V Substitution - Missense Oesophagus COSM1211782 KDM5C c.472G>A p.E158K Substitution - Missense Large_intestine COSM1226759 SMARCA4 c.3293A>G p.K1098R Substitution - Missense Large_intestine COSM1211750 KDM4D c.386G>A p.R129H Substitution - Missense Large_intestine COSM1162138 SETD2 c.2986T>C p.C996R Substitution - Missense Kidney COSM1188930 MTA1 c.1271G>T p.W424L Substitution - Missense Lung COSM1315788 L3MBTL2 c.1439C>T p.S480F Substitution - Missense Lung COSM1306629 NCOA1 c.1582A>G p.N528D Substitution - Missense Urinary_tract COSM1394649 KDM4B c.1903G>A p.E635K Substitution - Missense Large_intestine COSM1401400 ATF2 c.1367C>T p.S456L Substitution - Missense Large_intestine COSM1383304 KAT2A c.1778A>T p.H593L Substitution - Missense Large_intestine COSM1462650 KIAA2026_ENST00000399933 c.2187delA p.A730fs*26 Deletion - Frameshift Large_intestine COSM1465094 MSL3 c.56G>A p.C19Y Substitution - Missense Large_intestine COSM1447271 PHF14 c.292A>T p.K98* Substitution - Nonsense Large_intestine COSM1363771 CHD4 c.1039C>T p.R347* Substitution - Nonsense Skin COSM1512174 ARID2 c.820C>T p.R274* Substitution - Nonsense Upper_aerodigestive_tract COSM1565740 NCOA3 c.3765G>A p.Q1255Q Substitution - coding silent Large_intestine COSM1478091 INOC1 c.934C>T p.H312Y Substitution - Missense Breast COSM1470212 DMAP1 c.332T>G p.F111C Substitution - Missense Prostate COSM1611513 CARM1 c.1449C>G p.P483P Substitution - coding silent Liver COSM1623347 TRRAP c.1530G>C p.P510P Substitution - coding silent Liver COSM1679534 KDM6B c.2446T>G p.Y816D Substitution - Missense Large_intestine COSM1704146 MTA2 c.1453C>T p.P485S Substitution - Missense Skin COSM1716187 DOT1L c.1773G>A p.A591A Substitution - coding silent Central_nervous_system COSM1735417 CHD3 c.5195C>T p.S1732F Substitution - Missense Pancreas COSM1936565 BAZ2A c.2709G>A p.V903V Substitution - coding silent Large_intestine COSM1965177 KAT6B c.5231C>T p.P1744L Substitution - Missense Central_nervous_system COSM3206335 FXR1 c.1298G>A p.R433Q Substitution - Missense Large_intestine COSM3365346 SETD2 c.4600+3A>T p.? Unknown Kidney COSM3373875 NIPBL c.3665G>A p.G1222D Substitution - Missense Thyroid COSM3408970 INTS12 c.991G>A p.V331M Substitution - Missense Central_nervous_system COSM3396412 SMARCA1 c.1505-3T>G p.? Unknown Prostate COSM3508231 GTF3C1 c.2430C>T p.L810L Substitution - coding silent Skin COSM3486480 SMYD3 c.368C>T p.S123F Substitution - Missense Skin COSM3508988 SETD1A c.3007G>T p.V1003L Substitution - Missense Skin COSM3415080 ERCC6 c.1954C>T p.R652* Substitution - Nonsense Large_intestine COSM3419902 ARID4A c.2786G>T p.R929I Substitution - Missense Large_intestine COSM3618457 BRD9 c.1381T>A p.S461T Substitution - Missense Skin COSM3621308 SHPRH c.895G>T p.A299S Substitution - Missense Skin COSM3597971 SETD5_ENST00000402198 c.2146G>A p.E716K Substitution - Missense Skin COSM3608988 KDM3B c.4402A>T p.I1468F Substitution - Missense Skin COSM3649305 MYST3 c.1428C>T p.I476I Substitution - coding silent Skin COSM3674227 PRDM8 c.675C>A p.P225P Substitution - coding silent Prostate COSM3703783 SETDB1 c.1765A>G p.M589V Substitution - Missense Liver COSM3752792 TRIM66 c.1397A>G p.H466R Substitution - Missense Upper_aerodigestive_tract COSM3850178 PHF15 c.1474A>G p.T492A Substitution - Missense Stomach COSM3934018 TRIM33 c.1786G>T p.A596S Substitution - Missense Oesophagus COSM3937044 SRCAP c.5092C>G p.Q1698E Substitution - Missense Oesophagus COSM3830136 EHMT2 c.2189A>C p.H730P Substitution - Missense Breast COSM3912914 TCF20 c.3750C>T p.P1250P Substitution - coding silent Skin COSM3948115 SHPRH c.4899A>T p.V1633V Substitution - coding silent Lung COSM3958895 CHD3 c.4558G>T p.D1520Y Substitution - Missense Lung COSM3962597 ATAD2B_ENST00000238789 c.2626G>T p.E876* Substitution - Nonsense Lung COSM3980474 PHRF1 c.1913C>A p.T638N Substitution - Missense Ovary COSM3980927 EP400 c.5767A>T p.S1923C Substitution - Missense Ovary COSM4031533 PRDM16 c.1737C>G p.F579L Substitution - Missense Stomach COSM4109551 KDM6A c.1194G>T p.Q398H Substitution - Missense Stomach COSM4096136 KDM3A c.3144G>A p.W1048* Substitution - Nonsense Stomach COSM4070284 KDM6B c.1193C>G p.T398S Substitution - Missense Stomach COSM4170127 TET2 c.2474delC p.S825fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4206829 PRMT8 c.866C>T p.S289L Substitution - Missense Skin COSM4383871 TET2 c.2794delG p.D932fs*21 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4385242 EP300 c.1898T>C p.L633P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4399744 L3MBTL3 c.2289C>T p.F763F Substitution - coding silent Skin COSM4440488 KDM6B c.2520delC p.P842fs*52 Deletion - Frameshift Thyroid COSM4513840 SIRT3 c.952C>T p.L318F Substitution - Missense Skin COSM4486903 TRIM66 c.3116C>G p.S1039C Substitution - Missense Skin COSM4499808 HCFC1 c.5218C>T p.P1740S Substitution - Missense Upper_aerodigestive_tract COSM4513302 PRDM9 c.932C>T p.S311F Substitution - Missense Skin COSM4663915 ASXL3 c.125G>T p.R42L Substitution - Missense Large_intestine COSM4666264 BRWD3 c.3903T>C p.N1301N Substitution - coding silent Large_intestine COSM4736042 TRIM33 c.2612C>T p.S871L Substitution - Missense Large_intestine COSM4768281 SETDB2 c.1153G>C p.D385H Substitution - Missense Biliary_tract COSM4669559 CBX2 c.399T>A p.G133G Substitution - coding silent Large_intestine COSM4702447 KMT2D c.1859C>T p.P620L Substitution - Missense Large_intestine COSM4764895 HDAC4 c.3234G>A p.M1078I Substitution - Missense Stomach COSM4614819 KDM6B c.2703_2705delCCT p.L902delL Deletion - In frame Large_intestine COSM4636131 BAG6 c.3129G>A p.K1043K Substitution - coding silent Large_intestine COSM4656989 KDM3B c.3265G>A p.E1089K Substitution - Missense Large_intestine COSM4961422 ASXL3 c.355G>A p.A119T Substitution - Missense Liver COSM4964393 KIAA1045 c.952C>T p.R318W Substitution - Missense Breast COSM5016316 JMJD1C c.5404_5406delGAA p.E1802delE Deletion - In frame Kidney COSM5074062 PHF14 c.2576delA p.K860fs*8 Deletion - Frameshift Large_intestine COSM5039404 NSD1 c.5026G>A p.A1676T Substitution - Missense Liver COSM5367013 SMARCA1 c.399T>C p.D133D Substitution - coding silent Large_intestine COSM5359945 KAT6B c.236G>A p.R79H Substitution - Missense Large_intestine COSM5457671 HDAC1 c.7C>T p.Q3* Substitution - Nonsense Large_intestine COSM5613051 PHF17 c.132T>G p.P44P Substitution - coding silent Adrenal_gland COSM5753883 SIRT4 c.649G>T p.V217F Substitution - Missense Large_intestine COSM5722205 ARID4A c.493G>C p.E165Q Substitution - Missense Skin COSM5741170 CBX2 c.571A>G p.K191E Substitution - Missense Small_intestine COSM5722305 TP53BP1 c.1809T>C p.G603G Substitution - coding silent Skin COSM5715563 MYST1 c.13G>A p.G5R Substitution - Missense Skin COSM5724482 HCFC1 c.5666G>A p.R1889H Substitution - Missense Skin COSM5593981 WHSC1 c.1312C>T p.P438S Substitution - Missense Skin COSM5660739 RAD54L c.289G>A p.A97T Substitution - Missense Soft_tissue COSM5657308 KDM5A c.1133T>A p.F378Y Substitution - Missense Soft_tissue COSM5711646 KDM6A c.1166C>A p.A389E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5878849 DNMT3A c.1126G>C p.A376P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5889151 KMT2A c.9733C>T p.P3245S Substitution - Missense Skin COSM5962271 BRD8 c.595C>G p.P199A Substitution - Missense Breast COSM5954182 KAT6B c.4735G>A p.D1579N Substitution - Missense Upper_aerodigestive_tract COSM5988705 KDM1B c.750+1G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5992256 KDM4A c.2300C>A p.S767* Substitution - Nonsense Prostate COSM5994170 NCOA1 c.1670G>T p.S557I Substitution - Missense Prostate COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Bone COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3690022 PRMT5 c.1697-2A>C p.? Unknown Large_intestine COSM3583861 SMYD1 c.306G>A p.E102E Substitution - coding silent Skin COSM5907889 EYA3 c.491C>T p.P164L Substitution - Missense Skin COSM5484416 PRDM15 c.945A>G p.E315E Substitution - coding silent Large_intestine COSM3458216 EP400 c.224C>T p.T75I Substitution - Missense Skin COSM3972359 INO80B c.858G>A p.R286R Substitution - coding silent Central_nervous_system COSM1287366 PRDM16 c.517C>T p.R173C Substitution - Missense Skin COSM32242 ERCC6 c.3355G>C p.E1119Q Substitution - Missense Breast COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM5990907 CHD3 c.343delA p.T115fs*26 Deletion - Frameshift Prostate COSM3778562 BAZ1B c.1862C>G p.S621C Substitution - Missense Urinary_tract COSM5651744 WHSC1L1 c.1311G>A p.E437E Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM971995 SETD6 c.941G>A p.R314H Substitution - Missense Endometrium COSM4693823 JHDM1D c.1763A>C p.K588T Substitution - Missense Large_intestine COSM4485098 HDAC9 c.2892C>T p.I964I Substitution - coding silent Skin COSM270222 SP140_ENST00000392045 c.1695T>C p.A565A Substitution - coding silent Large_intestine COSM4166186 SMARCB1 c.? p.R377H Substitution - Missense Bone COSM3460962 ARID2 c.699C>T p.F233F Substitution - coding silent Skin COSM3414596 PHF10 c.1148-6_1148-5insT p.? Unknown Large_intestine COSM4787506 RNF134 c.763G>A p.A255T Substitution - Missense Liver COSM41644 TET2 c.1648C>T p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4565409 GTF3C1 c.2084_2085CC>TT p.S695F Substitution - Missense Skin COSM3724902 TDRD5 c.2174C>A p.T725N Substitution - Missense Lung COSM4738967 UBR7 c.960+1G>A p.? Unknown Large_intestine COSM6004787 PRMT2 c.1296G>T p.W432C Substitution - Missense Prostate COSM3911511 EYA2 c.741G>A p.G247G Substitution - coding silent Large_intestine COSM4031484 HDAC1 c.609G>T p.E203D Substitution - Missense Stomach COSM4519733 EYA4 c.1025G>A p.R342K Substitution - Missense Skin COSM5722439 SETD1A c.1109A>T p.Y370F Substitution - Missense Skin COSM4388773 KDM4A c.2320-7T>C p.? Unknown Pancreas COSM5379349 RBBP5 c.834C>T p.I278I Substitution - coding silent Skin COSM4913072 ASXL3 c.1508A>T p.N503I Substitution - Missense Liver COSM1305744 BAZ2B c.5648A>T p.N1883I Substitution - Missense Urinary_tract COSM5762955 TET2 c.2082_2083insA p.M695fs*17 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2235525 ARID1A c.4791C>T p.N1597N Substitution - coding silent Large_intestine COSM253004 HCFC2 c.919delA p.N309fs*32 Deletion - Frameshift Ovary COSM3648827 WHSC1L1 c.1446C>T p.S482S Substitution - coding silent Skin COSM2235525 ARID1A c.4791C>T p.N1597N Substitution - coding silent Large_intestine COSM398050 CHD3 c.4243C>A p.R1415S Substitution - Missense Lung COSM4126231 PRDM8 c.1904G>A p.R635H Substitution - Missense Prostate COSM980854 MYST2 c.1156G>A p.A386T Substitution - Missense Endometrium COSM3472828 PRDM2 c.3104C>T p.P1035L Substitution - Missense Skin COSM464482 ZMYM6 c.1815A>G p.V605V Substitution - coding silent Kidney COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM4514585 TCF20 c.97C>T p.R33C Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3717733 CBX2 c.410G>A p.R137H Substitution - Missense Liver COSM1565128 IDH1 c.1000T>A p.F334I Substitution - Missense Large_intestine COSM1745415 KDM6A c.1841_1844delCACT p.T616fs*8 Deletion - Frameshift Urinary_tract COSM2874526 PRDM14 c.833T>C p.V278A Substitution - Missense Large_intestine COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM5010453 TET2 c.4851_4851delT p.Y1618fs*5 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4749944 SMARCA4 c.3487C>G p.L1163V Substitution - Missense Stomach COSM2952771 TET2 c.2474C>A p.S825* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4756861 SUV420H1 c.432T>A p.F144L Substitution - Missense Stomach COSM1131645 KMT2C c.2710C>T p.R904* Substitution - Nonsense Prostate COSM3820221 SMARCD2 c.522G>C p.W174C Substitution - Missense Breast COSM1066 SMARCB1 c.586_587ins17 p.D196fs*19 Insertion - Frameshift Central_nervous_system COSM126559 ARID1A c.802C>T p.Q268* Substitution - Nonsense Upper_aerodigestive_tract COSM1184481 BAZ2A_ENST00000379441 c.4475G>T p.R1492M Substitution - Missense Large_intestine COSM2155191 PRDM9 c.939C>A p.A313A Substitution - coding silent Central_nervous_system COSM3712215 SMYD4 c.99G>T p.L33F Substitution - Missense Upper_aerodigestive_tract COSM4689711 HDAC7 c.365C>T p.T122M Substitution - Missense Large_intestine COSM3521204 BPTF c.5227T>C p.F1743L Substitution - Missense Skin COSM306830 KMT2D c.11734_11742GGGCAGGGT>14 p.G3912fs Complex Central_nervous_system COSM4962214 DNMT3B c.2421G>C p.R807S Substitution - Missense Pancreas COSM1184909 BRD8 c.161G>A p.R54H Substitution - Missense Large_intestine COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4002035 PRDM15 c.2346G>A p.Q782Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4422654 SMARCC2 c.562+6A>T p.? Unknown Kidney COSM4150135 KMT2D c.49+2T>C p.? Unknown Ovary COSM3366059 NIPBL c.7008C>T p.N2336N Substitution - coding silent Kidney COSM3451582 MEN1 c.1072G>A p.E358K Substitution - Missense Skin COSM3973932 ATRX c.1828C>T p.Q610* Substitution - Nonsense Central_nervous_system COSM6006349 ARID2 c.1774G>A p.A592T Substitution - Missense Skin COSM1945472 PRDM4 c.836G>A p.G279D Substitution - Missense Large_intestine COSM3458538 ATF7IP c.2123G>A p.S708N Substitution - Missense Skin COSM3746461 KDM6B c.752T>C p.L251S Substitution - Missense Liver COSM79642 CHD9 c.4518G>T p.G1506G Substitution - coding silent Ovary COSM188277 MYST3 c.2591G>A p.R864Q Substitution - Missense Large_intestine COSM414474 PRDM16 c.811G>C p.E271Q Substitution - Missense Urinary_tract COSM1107182 EHMT1 c.2707G>A p.A903T Substitution - Missense Endometrium COSM4567778 PYGO2 c.866_867CC>TT p.P289L Substitution - Missense Skin COSM1100898 CHD7 c.7720C>A p.L2574I Substitution - Missense Endometrium COSM4588185 NCOA2 c.2689A>G p.T897A Substitution - Missense Bone COSM1753416 BRPF1 c.3483G>A p.Q1161Q Substitution - coding silent Urinary_tract COSM5025239 PHC2 c.1451_1455delAGACG p.E484fs*26 Deletion - Frameshift Breast COSM1190839 PHF21A c.78delG p.D27fs*7 Deletion - Frameshift Lung COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1718784 EYA2 c.762G>A p.K254K Substitution - coding silent Skin COSM4689966 HELLS c.1390C>T p.R464* Substitution - Nonsense Large_intestine COSM3719939 ZBTB33 c.1180delA p.I394fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1468257 HDAC6 c.3040G>A p.G1014R Substitution - Missense Large_intestine COSM5447173 GTF3C1 c.3277A>G p.M1093V Substitution - Missense Large_intestine COSM4795027 MTA1 c.631G>A p.D211N Substitution - Missense Liver COSM4665022 BAG6 c.2176C>T p.R726C Substitution - Missense Large_intestine COSM5944982 DNMT3A c.935C>A p.S312Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4663221 ARID1A c.2142_2143insT p.S715fs*102 Insertion - Frameshift Large_intestine COSM3876909 MLL5 c.4522G>A p.A1508T Substitution - Missense Stomach COSM2820655 AIRE c.1466delC p.S491fs*30 Deletion - Frameshift Large_intestine COSM5756461 ING2 c.613T>C p.F205L Substitution - Missense Large_intestine COSM1609873 NCOR1 c.6502T>C p.L2168L Substitution - coding silent Liver COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1072926 NCOA7 c.1107G>T p.E369D Substitution - Missense Endometrium COSM703033 CREBBP c.4303G>T p.D1435Y Substitution - Missense Lung COSM2023465 PWWP2B c.370G>A p.A124T Substitution - Missense Large_intestine COSM3842010 AIRE c.1613G>A p.R538H Substitution - Missense Breast COSM51464 ARID1A c.1627C>T p.Q543* Substitution - Nonsense Endometrium COSM1215571 MSH6 c.2882G>T p.R961I Substitution - Missense Large_intestine COSM33306 KMT2C c.5716C>T p.R1906* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5708965 TET2 c.3876C>G p.S1292R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM159980 CHD6 c.449G>A p.G150E Substitution - Missense Breast COSM303879 CTCF c.1130G>A p.R377H Substitution - Missense Endometrium COSM1103 SMARCB1 c.?_?del? p.?del Deletion - In frame Soft_tissue COSM4129055 CREBBP c.2598G>T p.M866I Substitution - Missense Thyroid COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM277237 SETD2 c.3058C>T p.R1020C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1660061 PBRM1 c.1279delC p.I428fs*10 Deletion - Frameshift Kidney COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4098447 CHD6 c.5891T>G p.I1964S Substitution - Missense Stomach COSM3728230 PHRF1 c.4817A>G p.K1606R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM907712 ARID1A c.3514C>T p.Q1172* Substitution - Nonsense Endometrium COSM71001 GTF3C1 c.433T>G p.W145G Substitution - Missense Ovary COSM216839 TAF1L c.1873C>G p.H625D Substitution - Missense Pancreas COSM4753609 RTF1 c.1498G>A p.G500S Substitution - Missense Stomach COSM5751832 TDRD6 c.3667G>AG p.E1223fs*24 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM3848175 PSIP1 c.859-1G>C p.? Unknown Breast COSM5913754 CREBBP c.4678G>A p.E1560K Substitution - Missense Skin COSM5607220 ZBTB33 c.1942G>A p.E648K Substitution - Missense Skin COSM1406746 ATAD2B_ENST00000238789 c.933G>A p.T311T Substitution - coding silent Large_intestine COSM3988471 CREBBP c.942C>T p.I314I Substitution - coding silent Kidney COSM5373359 KDM2A c.2495C>T p.S832F Substitution - Missense Skin COSM5497269 GTF3C1 c.1025A>G p.N342S Substitution - Missense Biliary_tract COSM4818368 TDRD1 c.2212+2T>C p.? Unknown Cervix COSM958761 SMEK1 c.416G>A p.R139H Substitution - Missense Endometrium COSM308280 KMT2C c.9934C>T p.Q3312* Substitution - Nonsense Cervix COSM705618 SUZ12 c.1375A>G p.K459E Substitution - Missense Lung COSM4429248 MECOM c.983C>T p.S328L Substitution - Missense Oesophagus COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1701032 TAF1L c.3772G>A p.E1258K Substitution - Missense Skin COSM5418845 SMCHD1 c.3648A>G p.Q1216Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1284064 CDYL c.341C>T p.T114M Substitution - Missense Autonomic_ganglia COSM110780 TET2 c.3862G>A p.G1288S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5560358 SETD5_ENST00000402198 c.918G>A p.M306I Substitution - Missense Prostate COSM442598 ATAD2B_ENST00000238789 c.2740C>G p.Q914E Substitution - Missense Breast COSM435317 GLYR1 c.1357G>A p.E453K Substitution - Missense Urinary_tract COSM4669573 CBX6 c.797C>T p.A266V Substitution - Missense Large_intestine COSM4934479 SETD1A c.1774G>A p.G592S Substitution - Missense Liver COSM307767 ASXL1 c.1902_1924del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM277477 SRCAP c.2244G>A p.A748A Substitution - coding silent Large_intestine COSM1460906 WDR5 c.874G>C p.E292Q Substitution - Missense Large_intestine COSM1067062 PRDM9 c.366G>T p.A122A Substitution - coding silent Endometrium COSM3795006 CTCF c.2059G>T p.E687* Substitution - Nonsense Urinary_tract COSM1302426 NCOR1 c.1552G>T p.E518* Substitution - Nonsense Urinary_tract COSM2859783 TIF1 c.258G>A p.Q86Q Substitution - coding silent Large_intestine COSM3108863 GTF3C1 c.3998A>G p.Y1333C Substitution - Missense Upper_aerodigestive_tract COSM272705 FXR1 c.364delA p.N124fs*14 Deletion - Frameshift Stomach COSM240097 HELLS c.1796G>C p.G599A Substitution - Missense Prostate COSM1601864 ACTA1 c.406G>A p.V136M Substitution - Missense Liver COSM5574262 IDH2 c.? p.G176D Substitution - Missense Bone COSM5631710 SUV420H1 c.949G>A p.E317K Substitution - Missense Oesophagus COSM3931546 HNF1A c.1375C>T p.L459L Substitution - coding silent Liver COSM956533 ARID4A c.2119G>A p.E707K Substitution - Missense Endometrium COSM954417 CHD8 c.6939C>T p.T2313T Substitution - coding silent Endometrium COSM221097 KMT2D c.6908delG p.G2303fs*10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2230162 PRDM2 c.4589C>T p.P1530L Substitution - Missense Large_intestine COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1439339 CHD1 c.4259G>T p.R1420I Substitution - Missense Large_intestine COSM693658 KMT2D c.3087+1G>T p.? Unknown Lung COSM309435 BAZ1B c.3327C>T p.L1109L Substitution - coding silent Lung COSM3408714 DHX30 c.649G>A p.A217T Substitution - Missense Central_nervous_system COSM3819258 SUZ12 c.955A>C p.M319L Substitution - Missense Breast COSM3726763 SMC1A c.1434C>T p.N478N Substitution - coding silent Lung COSM4608448 ARID2 c.1151C>A p.A384E Substitution - Missense Adrenal_gland COSM4732928 TDRKH c.994C>T p.Q332* Substitution - Nonsense Large_intestine COSM4499478 RAI1 c.5435C>T p.P1812L Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM328978 KMT2C c.8390delA p.K2797fs*26 Deletion - Frameshift Stomach COSM255035 ZMYND8 c.1175A>C p.N392T Substitution - Missense Urinary_tract COSM226347 BPTF c.8654_8655CC>TT p.S2885>? Complex Skin COSM4725907 SHPRH c.2534G>A p.C845Y Substitution - Missense Large_intestine COSM4617561 SETD3 c.411A>G p.S137S Substitution - coding silent Large_intestine COSM4517169 PRDM2 c.2899_2900CC>TT p.P967F Substitution - Missense Skin COSM5474900 ARID1B c.1583A>T p.Q528L Substitution - Missense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4666077 BRD1 c.1966C>T p.R656C Substitution - Missense Oesophagus COSM570471 MBD5 c.3598G>T p.E1200* Substitution - Nonsense Breast COSM3712996 UHRF1 c.466G>T p.A156S Substitution - Missense Upper_aerodigestive_tract COSM4027383 RBBP5 c.220T>C p.W74R Substitution - Missense Stomach COSM4604059 CREBBP c.1100G>T p.C367F Substitution - Missense Upper_aerodigestive_tract COSM5546652 PHF6 c.97_113>G p.I33fs*43 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM5895315 TP53BP1 c.2702-4delT p.? Unknown Skin COSM1307487 NCOA3 c.3840C>T p.F1280F Substitution - coding silent Urinary_tract COSM690576 RSF1 c.1821A>G p.P607P Substitution - coding silent Lung COSM1167631 KMT2A c.11612delG p.E3872fs*21 Deletion - Frameshift Skin COSM5636249 KMT2D c.2899A>T p.M967L Substitution - Missense Oesophagus COSM1298515 SUV420H1 c.45G>C p.R15S Substitution - Missense Urinary_tract COSM4816914 EPC2 c.304C>G p.H102D Substitution - Missense Cervix COSM3930800 RAD54L c.1584C>G p.L528L Substitution - coding silent Urinary_tract COSM1380023 CDYL2 c.323G>A p.R108Q Substitution - Missense Skin COSM908638 ZMYM1 c.1007C>A p.S336Y Substitution - Missense Endometrium COSM483879 EHMT2 c.3395G>A p.R1132Q Substitution - Missense Kidney COSM985377 KDM6B c.752_753insACCACC p.P264_L265insPP Insertion - In frame Liver COSM3799749 DIDO1 c.1052C>T p.T351I Substitution - Missense Urinary_tract COSM5456384 HDAC1 c.119A>T p.N40I Substitution - Missense Large_intestine COSM370212 PRDM13 c.1388C>A p.T463K Substitution - Missense Lung COSM1612642 KDM4B c.1656G>T p.E552D Substitution - Missense Liver COSM5606430 CHD6 c.4316T>G p.M1439R Substitution - Missense Skin COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Biliary_tract COSM87069 TET2 c.322C>T p.Q108* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM703026 CREBBP c.2103G>A p.V701V Substitution - coding silent Lung COSM1266238 SMARCA4 c.3575G>A p.R1192H Substitution - Missense Large_intestine COSM1716168 TET2 c.1512A>T p.K504N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5972968 SIRT6 c.583C>T p.R195W Substitution - Missense Upper_aerodigestive_tract COSM1099539 ASH2L c.1453G>A p.V485I Substitution - Missense Stomach COSM4963841 DNMT3A c.2412G>T p.P804P Substitution - coding silent Pancreas COSM5416541 ACTR5 c.78C>T p.H26H Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM26919 DNMT1 c.4589C>T p.P1530L Substitution - Missense Skin COSM1161671 KMT2C c.6281A>T p.Y2094F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3712696 CXXC1 c.1158C>T p.P386P Substitution - coding silent Upper_aerodigestive_tract COSM2221842 TRIM66 c.1706C>T p.T569I Substitution - Missense Skin COSM5607875 ARID2 c.5359C>A p.R1787S Substitution - Missense Skin COSM4960473 HDGFL1 c.673C>T p.R225W Substitution - Missense Liver COSM3546358 CHD6 c.5059C>T p.Q1687* Substitution - Nonsense Skin COSM4045328 PHC1 c.1272G>A p.A424A Substitution - coding silent Stomach COSM1299442 KMT2D c.5230C>T p.Q1744* Substitution - Nonsense Urinary_tract COSM473193 SMARCD2 c.931C>T p.R311* Substitution - Nonsense Endometrium COSM4613573 EP300 c.2776_2777insC p.T928fs*21 Insertion - Frameshift Large_intestine COSM3353143 TDRD6 c.5659G>A p.A1887T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4259547 SRCAP c.5307T>A p.T1769T Substitution - coding silent Bone COSM1107677 SMARCA2 c.79C>A p.L27I Substitution - Missense Endometrium COSM1190243 NCOA6 c.3134C>T p.S1045L Substitution - Missense Lung COSM382495 TRRAP c.5569G>T p.V1857L Substitution - Missense Lung COSM5981801 PRMT2 c.479G>A p.R160Q Substitution - Missense Upper_aerodigestive_tract COSM5361254 KMT2D c.10172delG p.G3391fs*88 Deletion - Frameshift Large_intestine COSM4590050 PRDM10 c.1332A>C p.E444D Substitution - Missense Upper_aerodigestive_tract COSM4383833 TET2 c.2153delT p.L719fs*32 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5345955 HCFC1 c.3479T>A p.V1160E Substitution - Missense Large_intestine COSM4392338 SMARCA1 c.3030+1G>A p.? Unknown Prostate COSM1480276 SMCHD1 c.2498G>C p.G833A Substitution - Missense Breast COSM1756622 PHF8 c.1038C>A p.A346A Substitution - coding silent Urinary_tract COSM1470609 HNF1A c.1014C>T p.G338G Substitution - coding silent Prostate COSM921724 HELLS c.2454G>T p.E818D Substitution - Missense Endometrium COSM3636990 HDAC9 c.639G>A p.K213K Substitution - coding silent Skin COSM4054835 TP53BP1 c.3928T>C p.S1310P Substitution - Missense Stomach COSM4994618 CHD2 c.2299C>G p.L767V Substitution - Missense Large_intestine COSM5923172 SETD1A c.235C>T p.P79S Substitution - Missense Skin COSM13394 MSH6 c.3261_3262insC p.F1088fs*5 Insertion - Frameshift Stomach COSM3707918 DIDO1 c.3204A>G p.K1068K Substitution - coding silent Liver COSM1688028 BRDT c.979G>A p.D327N Substitution - Missense Biliary_tract COSM3781469 NCOA2 c.4031A>G p.N1344S Substitution - Missense Pancreas COSM3358416 KDM5C c.2962delC p.H988fs*18 Deletion - Frameshift Kidney COSM4967678 PSIP1 c.215_228>ATAAAAGGT p.K75fs*2 Complex - frameshift Pancreas COSM13394 MSH6 c.3261_3262insC p.F1088fs*5 Insertion - Frameshift Stomach COSM3703405 MYST3 c.3178A>G p.R1060G Substitution - Missense Liver COSM3304560 KMT2C c.1154G>A p.C385Y Substitution - Missense Skin COSM356814 GTF3C1 c.544G>A p.E182K Substitution - Missense Lung COSM1334934 HDGF c.386C>T p.A129V Substitution - Missense Large_intestine COSM1609383 BRD7 c.1757-1_1768delGCTGAACAAGTGA p.? Unknown Liver COSM3932818 SMCHD1 c.466G>A p.V156I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3176006 PHIP c.1112T>C p.I371T Substitution - Missense Large_intestine COSM52929 PBRM1 c.1924_1925ins383 p.S642fs*5 Insertion - Frameshift Breast COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM4382860 KDM5A c.5C>G p.A2G Substitution - Missense Soft_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2837354 PCGF2 c.301T>C p.Y101H Substitution - Missense Large_intestine COSM211674 TET2 c.1793_1793delA p.N598fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1756705 UTY c.2029C>T p.P677S Substitution - Missense Urinary_tract COSM3457110 HNF1A c.1424C>T p.P475L Substitution - Missense Skin COSM4543208 SETDB1 c.3335G>A p.S1112N Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM940014 KMT2D c.10309C>T p.R3437* Substitution - Nonsense Endometrium COSM1299144 EP400 c.8205G>A p.Q2735Q Substitution - coding silent Urinary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5789553 PHF2 c.893A>G p.Q298R Substitution - Missense Breast COSM4914860 PHF6 c.395A>G p.K132R Substitution - Missense Liver COSM1587023 ZMYM2 c.1935C>A p.S645S Substitution - coding silent Endometrium COSM3767703 SETD7 c.935G>C p.R312P Substitution - Missense Liver COSM405189 SMARCA4 c.3475delG p.L1161fs*3 Deletion - Frameshift Lung COSM4767513 ATRX c.5957-6A>T p.? Unknown Biliary_tract COSM4918666 KMT2D c.8987T>A p.L2996H Substitution - Missense Liver COSM53156 TET2 c.? p.R1261G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3883738 TRRAP c.5663A>G p.H1888R Substitution - Missense Stomach COSM37032 EZH2 c.1937A>G p.Y646C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1245454 ARID2 c.1624C>T p.R542* Substitution - Nonsense Skin COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5945644 DNMT3A c.2069T>A p.V690D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM941777 BAZ2A_ENST00000379441 c.1693C>T p.R565C Substitution - Missense Endometrium COSM1301886 SRCAP c.8893C>T p.R2965W Substitution - Missense Urinary_tract COSM5497568 SETDB1 c.2137C>T p.P713S Substitution - Missense Biliary_tract COSM166748 PRDM9 c.2295A>T p.R765S Substitution - Missense Large_intestine COSM368563 PRDM4 c.544G>T p.D182Y Substitution - Missense Lung COSM416247 CHD8 c.5179G>A p.E1727K Substitution - Missense Urinary_tract COSM132895 TET2 c.967C>T p.Q323* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM976059 SMYD4 c.442C>T p.R148C Substitution - Missense Endometrium COSM5921050 SRCAP c.1815+5C>T p.? Unknown Skin COSM5988447 BAZ2A_ENST00000379441 c.3767_3771delCACTG p.S1256fs*6 Deletion - Frameshift Salivary_gland COSM41899 TET2 c.? p.S1848* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4747896 EP400 c.502delG p.G169fs*9 Deletion - Frameshift Stomach COSM3879559 KMT2C c.7747G>C p.E2583Q Substitution - Missense Stomach COSM35785 KAT6B c.4589G>A p.G1530E Substitution - Missense Central_nervous_system COSM2209142 TDRD10 c.582G>A p.G194G Substitution - coding silent Skin COSM23009 MEN1 c.1045C>T p.Q349* Substitution - Nonsense Skin COSM3636459 KMT2C c.12954C>T p.V4318V Substitution - coding silent Stomach COSM985430 CHD3 c.984T>C p.S328S Substitution - coding silent Endometrium COSM110007 MECOM c.1841G>A p.G614E Substitution - Missense Skin COSM3714781 WHSC1 c.2185C>T p.R729C Substitution - Missense Stomach COSM3637559 STK31 c.2425G>A p.V809I Substitution - Missense Skin COSM247316 SHPRH c.4054C>T p.R1352C Substitution - Missense Stomach COSM1002 SMARCB1 c.118C>T p.R40* Substitution - Nonsense Central_nervous_system COSM21744 SMARCC1 c.1495C>T p.R499C Substitution - Missense Large_intestine COSM37030 EZH2 c.1936T>C p.Y646H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM46454 HNF1A c.327-1G>T p.? Unknown Liver COSM130455 DNMT3A c.2250delC p.F751fs*28 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM247700 TAF1L c.4540A>T p.I1514F Substitution - Missense Prostate COSM297202 PRDM2 c.4459delA p.V1490fs*74 Deletion - Frameshift Large_intestine COSM322802 PRDM16 c.1303A>G p.T435A Substitution - Missense Lung COSM329527 PHRF1 c.3086C>T p.S1029L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM337164 EYA4 c.88A>G p.M30V Substitution - Missense Lung COSM368138 PRDM15 c.2629G>C p.E877Q Substitution - Missense Lung COSM387547 NIPBL c.229A>T p.I77L Substitution - Missense Lung COSM453648 TRRAP c.8595G>C p.K2865N Substitution - Missense Breast COSM469729 MTA1 c.1182G>C p.E394D Substitution - Missense Kidney COSM471556 GTF3C1 c.1068A>G p.T356T Substitution - coding silent Kidney COSM979420 KAT2A c.1197G>A p.A399A Substitution - coding silent Endometrium COSM941780 BAZ2A_ENST00000379441 c.1657C>T p.R553C Substitution - Missense Skin COSM1049131 BRPF1 c.1675C>T p.R559C Substitution - Missense Endometrium COSM1026703 ACTR5 c.690C>T p.Y230Y Substitution - coding silent Endometrium COSM939384 KDM5A c.1475T>G p.I492S Substitution - Missense Endometrium COSM703470 CHD9 c.1528G>C p.E510Q Substitution - Missense Lung COSM1651167 SETDB1 c.3138C>T p.D1046D Substitution - coding silent Endometrium COSM907735 ARID1A c.5175T>C p.I1725I Substitution - coding silent Endometrium COSM947885 PHF11 c.813C>T p.F271F Substitution - coding silent Endometrium COSM1000723 EZH2 c.1876G>A p.V626M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1034989 PHF21B c.574C>T p.R192C Substitution - Missense Bone COSM1041689 FXR1 c.344T>A p.V115D Substitution - Missense Endometrium COSM961355 INOC1 c.2691T>C p.S897S Substitution - coding silent Endometrium COSM1078042 PHF1 c.1380C>T p.T460T Substitution - coding silent Endometrium COSM1074209 SHPRH c.1459C>T p.L487L Substitution - coding silent Endometrium COSM1107419 PSIP1 c.663G>A p.G221G Substitution - coding silent Endometrium COSM1128336 YY1 c.759A>G p.E253E Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1088197 HDAC9 c.2921C>T p.A974V Substitution - Missense Endometrium COSM1107163 EHMT1 c.112G>A p.A38T Substitution - Missense Endometrium COSM1106531 BRD3 c.1928A>G p.K643R Substitution - Missense Endometrium COSM1079901 TDRD6 c.3567G>A p.L1189L Substitution - coding silent Endometrium COSM1253993 HCFC2 c.971G>T p.G324V Substitution - Missense Oesophagus COSM1184382 KMT2C c.4308A>C p.E1436D Substitution - Missense Large_intestine COSM1258018 MTA1 c.1944G>A p.M648I Substitution - Missense Oesophagus COSM1301962 CREBBP c.235G>A p.G79S Substitution - Missense Urinary_tract COSM1318614 TET2 c.4264_4265insTA p.K1422fs*27 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1408709 SMEK2 c.1056G>T p.R352S Substitution - Missense Large_intestine COSM1429845 GABRG1 c.21_22insT p.L8fs*12 Insertion - Frameshift Large_intestine COSM1412260 NCOA3 c.4140G>A p.Q1380Q Substitution - coding silent Large_intestine COSM1446055 PHIP c.2105A>T p.H702L Substitution - Missense Large_intestine COSM1462027 TAF1L c.10G>A p.G4S Substitution - Missense Large_intestine COSM1475949 TRIM66 c.232G>C p.E78Q Substitution - Missense Breast COSM1483642 CHD6 c.1461G>C p.E487D Substitution - Missense Breast COSM1615834 DIDO1 c.1399C>A p.H467N Substitution - Missense Liver COSM1619469 PHF15 c.1093A>G p.S365G Substitution - Missense Liver COSM1624841 SMARCA2 c.1023A>T p.E341D Substitution - Missense Liver COSM1716629 ATRX c.1075_1076insA p.L359fs*3 Insertion - Frameshift Central_nervous_system COSM1699412 TIF1 c.1315C>T p.P439S Substitution - Missense Skin COSM1717326 ALKBH3 c.552G>C p.E184D Substitution - Missense Ovary COSM1663996 RSF1 c.3658G>A p.D1220N Substitution - Missense Kidney COSM1757269 KDM6A c.226-2A>G p.? Unknown Urinary_tract COSM1748330 EYA3 c.307C>G p.Q103E Substitution - Missense Urinary_tract COSM1936693 BAZ2A_ENST00000379441 c.677T>C p.V226A Substitution - Missense Large_intestine COSM2192899 ORC1 c.649T>C p.S217P Substitution - Missense Large_intestine COSM2805007 BAHCC1 c.5685C>T p.Y1895Y Substitution - coding silent Large_intestine COSM3095732 TAF1 c.1313C>T p.P438L Substitution - Missense Pancreas COSM3095861 TAF1 c.5355C>T p.D1785D Substitution - coding silent Central_nervous_system COSM3203708 MECOM c.612C>T p.C204C Substitution - coding silent Upper_aerodigestive_tract COSM3384414 KMT2D c.4192A>C p.S1398R Substitution - Missense Pancreas COSM3407733 HDAC4 c.2722T>C p.L908L Substitution - coding silent Central_nervous_system COSM3479289 TDRD5 c.1027G>A p.E343K Substitution - Missense Skin COSM3508210 GTF3C1 c.4958C>T p.S1653F Substitution - Missense Skin COSM3466326 PHC1 c.906G>A p.G302G Substitution - coding silent Skin COSM3466328 PHC1 c.1956C>T p.V652V Substitution - coding silent Skin COSM3579795 HDAC4 c.2185A>T p.N729Y Substitution - Missense Skin COSM3684217 BAG6 c.194T>G p.V65G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3672051 TP53BP1 c.2038A>T p.K680* Substitution - Nonsense Prostate COSM3707718 NCOA6 c.4778C>T p.P1593L Substitution - Missense Liver COSM3713324 ADNP c.255C>G p.F85L Substitution - Missense Upper_aerodigestive_tract COSM3762194 PHIP c.3278T>C p.L1093P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3770873 DIDO1 c.4746G>A p.S1582S Substitution - coding silent Pancreas COSM3777994 MLL5 c.3263C>T p.T1088I Substitution - Missense Urinary_tract COSM3812807 CHD4 c.5604G>A p.V1868V Substitution - coding silent Breast COSM3857082 PRDM13 c.1898A>C p.E633A Substitution - Missense Stomach COSM3853976 NSD1 c.5854C>T p.R1952W Substitution - Missense Prostate COSM3830346 BRPF3 c.1713G>C p.K571N Substitution - Missense Breast COSM3906563 SMARCA2 c.3314G>A p.R1105H Substitution - Missense Stomach COSM3906853 TAF1L c.3G>A p.M1I Substitution - Missense Stomach COSM3905145 GTF3C4 c.699C>T p.L233L Substitution - coding silent Stomach COSM3966497 ARID1A c.1376C>T p.P459L Substitution - Missense Central_nervous_system COSM4039757 SETD8 c.234T>C p.H78H Substitution - coding silent Stomach COSM4136815 ASXL1 c.3012C>A p.D1004E Substitution - Missense Ovary COSM4139284 DAXX c.991G>T p.D331Y Substitution - Missense Pancreas COSM4162014 KMT2C c.2534G>A p.G845E Substitution - Missense Large_intestine COSM4161255 TDRD6 c.599T>G p.V200G Substitution - Missense Upper_aerodigestive_tract COSM4382112 DIDO1 c.1912G>A p.V638I Substitution - Missense Large_intestine COSM4389777 SMARCA4 c.666A>C p.P222P Substitution - coding silent Pancreas COSM4605012 ASH1L c.2887G>C p.E963Q Substitution - Missense Upper_aerodigestive_tract COSM4600201 MBD5 c.3440G>T p.R1147L Substitution - Missense Upper_aerodigestive_tract COSM4570534 HDAC4 c.2858T>A p.F953Y Substitution - Missense Skin COSM4579557 PHF12 c.144G>A p.R48R Substitution - coding silent Bone COSM4544187 MBD5 c.3518G>A p.G1173E Substitution - Missense Skin COSM4536185 KDM5A c.2275G>A p.D759N Substitution - Missense Skin COSM4449381 MBD6 c.217-1G>A p.? Unknown Skin COSM4469052 LBR c.1579C>T p.H527Y Substitution - Missense Skin COSM4700977 MBD4 c.541C>T p.R181* Substitution - Nonsense Large_intestine COSM4731927 TAF1 c.1210A>G p.M404V Substitution - Missense Large_intestine COSM4701401 MECP2 c.815C>T p.P272L Substitution - Missense Large_intestine COSM4766107 TET2 c.3251_3251delA p.T1085fs*21 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4768238 RSF1 c.222G>A p.L74L Substitution - coding silent Biliary_tract COSM4675309 CTCF c.135G>A p.T45T Substitution - coding silent Large_intestine COSM4792334 DMAP1 c.166G>A p.E56K Substitution - Missense Skin COSM4883789 BRD1 c.655A>G p.I219V Substitution - Missense Upper_aerodigestive_tract COSM4928982 SETD1A c.994G>A p.A332T Substitution - Missense Liver COSM4923157 ZCWPW2 c.493C>A p.P165T Substitution - Missense Liver COSM4995808 CXXC1 c.500G>A p.R167H Substitution - Missense Upper_aerodigestive_tract COSM4976825 SHPRH c.1856G>T p.C619F Substitution - Missense Oesophagus COSM4974834 TP53BP1 c.5308C>T p.P1770S Substitution - Missense Oesophagus COSM5004340 ASXL3 c.124C>G p.R42G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5005458 SMCHD1 c.555C>T p.S185S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5019449 ERCC6 c.411G>A p.L137L Substitution - coding silent Soft_tissue COSM5050965 MTA2 c.950T>A p.I317N Substitution - Missense Stomach COSM5202444 PHIP c.2656_2658delGAA p.E886delE Deletion - In frame Breast COSM5038462 SETD1A c.3969A>C p.A1323A Substitution - coding silent Skin COSM5046511 TAF1L c.1387A>G p.N463D Substitution - Missense Oesophagus COSM5350170 MTA1 c.1807A>T p.S603C Substitution - Missense Lung COSM5406233 PHF14 c.2533-1G>A p.? Unknown Skin COSM5388534 DNMT1 c.3691_3692GG>TA p.G1231Y Substitution - Missense Skin COSM5359822 BTAF1 c.2267A>G p.D756G Substitution - Missense Large_intestine COSM5419125 CBX1 c.482T>C p.I161T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5627970 RERE c.4225C>T p.L1409L Substitution - coding silent Oesophagus COSM5762219 EP400 c.7549C>A p.P2517T Substitution - Missense Pancreas COSM5748389 KMT2D c.2224A>G p.I742V Substitution - Missense Pancreas COSM5767549 BRPF1 c.2069C>G p.A690G Substitution - Missense Breast COSM5609227 KDM6A c.1930C>T p.H644Y Substitution - Missense Skin COSM5611064 TRRAP c.3048G>A p.K1016K Substitution - coding silent Skin COSM5692332 RNF2 c.302G>T p.R101M Substitution - Missense Soft_tissue COSM5753307 L3MBTL2 c.114C>G p.S38R Substitution - Missense Pancreas COSM5554130 WHSC1 c.868T>C p.F290L Substitution - Missense Prostate COSM5781309 ZMYND11 c.464C>T p.A155V Substitution - Missense Breast COSM5812645 STK31 c.1179T>A p.A393A Substitution - coding silent Liver COSM5809132 CREBBP c.6770A>T p.Q2257L Substitution - Missense Liver COSM5825098 HCFC2 c.686C>G p.T229S Substitution - Missense Pancreas COSM5923814 MYST3 c.4336T>A p.C1446S Substitution - Missense Skin COSM5942646 CHD9 c.8137C>T p.P2713S Substitution - Missense Skin COSM5959645 DIDO1 c.2499C>T p.F833F Substitution - coding silent Thyroid COSM5965185 TDRD5 c.864G>A p.Q288Q Substitution - coding silent Breast COSM5979797 BRD3 c.64C>T p.P22S Substitution - Missense Upper_aerodigestive_tract COSM5986541 MGA c.3523_3524insT p.P1175fs*7 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5968435 PRDM4 c.1720C>A p.Q574K Substitution - Missense Genital_tract COSM5984574 TDRD6 c.4074G>C p.M1358I Substitution - Missense Upper_aerodigestive_tract COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4972323 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4167277 TET2 c.? p.K1500N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43413 TET2 c.?_?ins? p.?fs Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5946129 MEN1 c.? p.L117fs*? Deletion - Frameshift Pituitary COSM179972 TAF3 c.364G>T p.E122* Substitution - Nonsense Large_intestine COSM2067836 ARID2 c.2802A>G p.Q934Q Substitution - coding silent Large_intestine COSM4207831 HDAC7 c.1104C>A p.P368P Substitution - coding silent Large_intestine COSM5892158 TRIM66 c.2839C>T p.P947S Substitution - Missense Skin COSM3488296 PHC2 c.168C>T p.T56T Substitution - coding silent Skin COSM4646767 ARID1B c.672C>G p.P224P Substitution - coding silent Large_intestine COSM4440696 TBL1XR1 c.1256C>T p.S419F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4949622 ARID1A c.5506G>T p.E1836* Substitution - Nonsense Liver COSM426007 ARID1A c.2644G>T p.G882W Substitution - Missense Breast COSM756871 PHF8 c.1246C>T p.H416Y Substitution - Missense Lung COSM230133 KMT2C c.1173C>A p.C391* Substitution - Nonsense Soft_tissue COSM1132512 TAF1L c.3029C>T p.T1010I Substitution - Missense Prostate COSM5567497 AP001011.3_ENST00000320876 c.4900T>C p.S1634P Substitution - Missense Prostate COSM307769 ASXL1 c.1925_1926insA p.G643fs*15 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM374027 PHF21A c.1410C>T p.D470D Substitution - coding silent Lung COSM423095 PBRM1 c.2296_2318del23 p.D766fs*22 Deletion - Frameshift Kidney COSM5930027 PHF20 c.649G>A p.E217K Substitution - Missense Skin COSM4040542 ATF7IP c.2675T>C p.V892A Substitution - Missense Stomach COSM1132294 HDAC6 c.1698T>G p.F566L Substitution - Missense Prostate COSM1266243 SMARCB1 c.695C>T p.T232M Substitution - Missense Stomach COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM751041 CHD7 c.6712G>T p.E2238* Substitution - Nonsense Lung COSM85835 MEN1 c.88G>T p.E30* Substitution - Nonsense Pancreas COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM2270178 INOC1 c.2999G>A p.R1000H Substitution - Missense Upper_aerodigestive_tract COSM5364596 SETBP1 c.3938A>G p.D1313G Substitution - Missense Large_intestine COSM4392089 ASXL1 c.3214G>A p.V1072I Substitution - Missense Prostate COSM5756290 SETD2 c.2810delC p.P937fs*43 Deletion - Frameshift Large_intestine COSM1635198 KMT2C c.2185A>G p.N729D Substitution - Missense Skin COSM3693631 DIDO1 c.4896C>T p.D1632D Substitution - coding silent Large_intestine COSM4968537 SETBP1 c.4053C>A p.N1351K Substitution - Missense Adrenal_gland COSM5735375 ZMYM6 c.954G>T p.Q318H Substitution - Missense Small_intestine COSM41296 IDH2 c.? p.R172W Substitution - Missense Central_nervous_system COSM4606283 KMT2D c.13442-9C>T p.? Unknown Upper_aerodigestive_tract COSM3731429 SMARCC2 c.3128_3129insC p.G1044fs*33 Insertion - Frameshift Large_intestine COSM1692147 SP140_ENST00000392045 c.382G>A p.E128K Substitution - Missense Skin COSM723975 NCOA6 c.4215G>T p.V1405V Substitution - coding silent Lung COSM4926454 CHD3 c.1567G>A p.A523T Substitution - Missense Liver COSM5425966 ALKBH3 c.490C>T p.R164C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM42005 TET2 c.3954+2T>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM321961 NCOA1 c.4216G>T p.D1406Y Substitution - Missense Lung COSM1093636 TRRAP c.5102G>A p.R1701Q Substitution - Missense Endometrium COSM1184495 BAZ2B c.1729A>G p.T577A Substitution - Missense Large_intestine COSM1161941 SETD2 c.2900C>T p.P967L Substitution - Missense Kidney COSM4031029 ARID1A c.6791C>A p.S2264* Substitution - Nonsense Stomach COSM246565 PHF21B c.1412G>A p.R471H Substitution - Missense Prostate COSM1218899 ORC1 c.1822C>T p.R608* Substitution - Nonsense Large_intestine COSM1027544 NCOA3 c.3568G>T p.A1190S Substitution - Missense Endometrium COSM2720089 CHD7 c.5049C>T p.S1683S Substitution - coding silent Skin COSM1625902 KDM6A c.902A>G p.Q301R Substitution - Missense Liver COSM3625728 PHF1 c.1341C>T p.P447P Substitution - coding silent Skin COSM3955074 CHD4 c.1911C>A p.H637Q Substitution - Missense Lung COSM461907 L3MBTL3 c.511C>A p.R171R Substitution - coding silent Cervix COSM1586694 CHD4 c.3644T>G p.L1215R Substitution - Missense Endometrium COSM4802768 PRDM8 c.116C>T p.A39V Substitution - Missense Liver COSM5480978 HCFC2 c.2064+2T>C p.? Unknown Large_intestine COSM87012 DNMT3A c.1903C>T p.R635W Substitution - Missense Skin COSM87126 TET2 c.3656A>G p.H1219R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1124800 ZMYM3 c.3250A>C p.T1084P Substitution - Missense Endometrium COSM3850427 KDM3B c.309C>T p.D103D Substitution - coding silent Stomach COSM1671901 KDM3B c.4330G>T p.D1444Y Substitution - Missense Large_intestine COSM3547337 EYA2 c.847C>T p.H283Y Substitution - Missense Skin COSM4022812 TDRD10 c.232G>A p.G78S Substitution - Missense Stomach COSM4151856 EYA1 c.966+5G>C p.? Unknown Ovary COSM945763 MPHOSPH8 c.709G>T p.D237Y Substitution - Missense Endometrium COSM3983274 NCOR1 c.3278A>C p.Q1093P Substitution - Missense Ovary COSM3774230 BAG6 c.1855T>C p.S619P Substitution - Missense Soft_tissue COSM3659716 PHF2 c.2001G>A p.E667E Substitution - coding silent Skin COSM4951069 ARID1A c.1113delG p.Q372fs*19 Deletion - Frameshift Liver COSM1675424 BTAF1 c.3845A>C p.K1282T Substitution - Missense Large_intestine COSM741904 BAG6 c.2299G>T p.G767W Substitution - Missense Lung COSM5604072 MECOM c.2808G>A p.L936L Substitution - coding silent Skin COSM3599584 PRDM5 c.1659C>T p.A553A Substitution - coding silent Skin COSM5432458 JMJD6 c.585C>G p.A195A Substitution - coding silent Oesophagus COSM5381076 DMAP1 c.786G>A p.E262E Substitution - coding silent Skin COSM1313694 ATAD2 c.516G>T p.L172L Substitution - coding silent Urinary_tract COSM4689670 HDAC2 c.379C>T p.R127* Substitution - Nonsense Large_intestine COSM5881455 EP300 c.? p.M1470fs*2 Frameshift Haematopoietic_and_lymphoid_tissue COSM1226796 SMARCD2 c.964G>A p.A322T Substitution - Missense Large_intestine COSM972732 PRMT7 c.151G>T p.G51C Substitution - Missense Endometrium COSM1310569 BRD8 c.2703G>C p.W901C Substitution - Missense Urinary_tract COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Bone COSM1117798 MECP2 c.755G>A p.G252D Substitution - Missense Endometrium COSM5039195 MBD1 c.743G>T p.R248L Substitution - Missense Liver COSM1121596 KDM6A c.2911C>T p.R971C Substitution - Missense Prostate COSM423118 PBRM1 c.3419delA p.N1140fs*19 Deletion - Frameshift Kidney COSM4384716 KMT2D c.10157G>A p.R3386H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5009127 KMT2C c.5711C>T p.T1904I Substitution - Missense Large_intestine COSM1169680 TET2 c.? p.P1619fs*4 Frameshift Haematopoietic_and_lymphoid_tissue COSM1213490 LMNB2 c.731G>A p.R244Q Substitution - Missense Large_intestine COSM1155726 BAP1 c.459_459delT p.E154fs*33 Deletion - Frameshift Skin COSM291788 ATRX c.6409G>A p.A2137T Substitution - Missense Large_intestine COSM4419972 CHD3 c.4092G>A p.S1364S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4756268 DIDO1 c.6637G>A p.D2213N Substitution - Missense Stomach COSM4974104 DNMT3B c.1413C>T p.D471D Substitution - coding silent Oesophagus COSM1030948 PRDM15 c.876C>T p.C292C Substitution - coding silent Endometrium COSM895852 POGZ c.237C>T p.S79S Substitution - coding silent Endometrium COSM287857 ELP3 c.1620G>A p.P540P Substitution - coding silent Liver COSM1423649 DHX30 c.2756C>A p.A919E Substitution - Missense Large_intestine COSM5752230 KMT2C c.9713_9728del16 p.T3238fs*6 Deletion - Frameshift Breast COSM1071558 CHD1 c.3G>T p.M1I Substitution - Missense Endometrium COSM2732578 PHF2 c.234C>T p.D78D Substitution - coding silent Central_nervous_system COSM4750906 ZMYM2 c.802G>A p.G268R Substitution - Missense Stomach COSM3547343 EYA2 c.1305C>T p.I435I Substitution - coding silent Skin COSM4384268 EZH2 c.1779_1780delTG p.C593fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1744930 PBRM1 c.3132delT p.F1044fs*115 Deletion - Frameshift Biliary_tract COSM932190 RSF1 c.4143G>A p.E1381E Substitution - coding silent Endometrium COSM1453180 TRRAP c.4948C>T p.R1650* Substitution - Nonsense Large_intestine COSM3567463 MBD5 c.3928C>T p.Q1310* Substitution - Nonsense Skin COSM5944488 TET2 c.789_790insC p.I264fs*18 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM374911 SMARCA2 c.2258T>G p.L753R Substitution - Missense Lung COSM3852229 HDAC3 c.998C>T p.A333V Substitution - Missense Stomach COSM2155385 BPTF c.7778G>A p.R2593Q Substitution - Missense Central_nervous_system COSM4579869 MBTD1 c.694T>C p.L232L Substitution - coding silent Bone COSM4961512 BAHCC1 c.4018G>A p.A1340T Substitution - Missense Liver COSM233632 TP53BP1 c.2062C>T p.P688S Substitution - Missense Skin COSM4720056 RAI1 c.1724T>C p.L575P Substitution - Missense Large_intestine COSM217240 EP300 c.1169T>G p.V390G Substitution - Missense Liver COSM3674115 PRMT10 c.1456C>A p.Q486K Substitution - Missense Prostate COSM1083677 MLL5 c.2685T>A p.Y895* Substitution - Nonsense Endometrium COSM1339922 ACTA1 c.25G>A p.A9T Substitution - Missense Large_intestine COSM1166109 CBX3 c.25-2A>T p.? Unknown Large_intestine COSM5051632 KMT2D c.14004C>T p.T4668T Substitution - coding silent Stomach COSM253812 PRMT7 c.1965C>G p.A655A Substitution - coding silent Urinary_tract COSM1622596 KMT2C c.10726A>G p.I3576V Substitution - Missense Liver COSM3680840 DOT1L c.200+1G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4460693 CXXC1 c.1164C>T p.S388S Substitution - coding silent Skin COSM42018 TET2 c.3501-1G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM306019 EP300 c.1879-1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1413182 ZGPAT c.763C>T p.L255L Substitution - coding silent Large_intestine COSM110761 TET2 c.2896_2897insTG p.Q966fs*42 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3523247 CHD3 c.1195C>T p.R399C Substitution - Missense Skin COSM6006358 ARID2 c.2527C>T p.Q843* Substitution - Nonsense Skin COSM5891771 SETD2 c.3994C>T p.P1332S Substitution - Missense Skin COSM724834 DIDO1 c.4117G>T p.D1373Y Substitution - Missense Lung COSM1633250 BAP1 c.586T>G p.W196G Substitution - Missense Liver COSM988394 SETBP1 c.3860C>T p.S1287L Substitution - Missense Skin COSM1717192 BAHD1 c.1958G>T p.W653L Substitution - Missense Ovary COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1433180 PHF15 c.1549C>T p.R517* Substitution - Nonsense Prostate COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5996615 PRDM13 c.1547C>A p.A516D Substitution - Missense Prostate COSM3473629 VPS72 c.36C>T p.T12T Substitution - coding silent Skin COSM5881717 ARID1A c.955_971del17 p.G319fs*75 Deletion - Frameshift Breast COSM5714759 KDM2A c.3217C>T p.H1073Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4383857 TET2 c.2509delA p.N837fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM485095 KMT2C c.3309T>A p.C1103* Substitution - Nonsense Central_nervous_system COSM1209371 HDAC10 c.274G>A p.A92T Substitution - Missense Large_intestine COSM4603246 RNF134 c.84_85insGCCTCC p.P28_V29insAS Insertion - In frame Upper_aerodigestive_tract COSM5443222 SETBP1 c.2004G>C p.K668N Substitution - Missense Oesophagus COSM5487544 KMT2D c.13458_13459insA p.P4487fs*25 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3981013 PRMT8 c.912C>A p.V304V Substitution - coding silent Ovary COSM144509 TET2 c.5752G>T p.E1918* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1666940 DNMT3A c.? p.T671A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4620678 MTA1 c.1591C>T p.R531C Substitution - Missense Large_intestine COSM4134443 DNMT3B c.1674T>C p.Y558Y Substitution - coding silent Thyroid COSM4703374 MSH6 c.73G>C p.A25P Substitution - Missense Large_intestine COSM34090 IDH2 c.516G>T p.R172S Substitution - Missense Central_nervous_system COSM71004 GTF3C4 c.1139A>G p.Y380C Substitution - Missense Ovary COSM3987966 TP53BP1 c.1651A>T p.M551L Substitution - Missense Kidney COSM1561319 PHRF1 c.4094C>T p.A1365V Substitution - Missense Large_intestine COSM1600854 GATAD2B c.639T>C p.S213S Substitution - coding silent Liver COSM126803 KMT2D c.3385C>T p.Q1129* Substitution - Nonsense Skin COSM5015759 ATRX c.2122A>G p.I708V Substitution - Missense Kidney COSM4507840 EED c.758C>T p.S253F Substitution - Missense Skin COSM1169688 TET2 c.? p.E852* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1709973 NCOR1 c.4694C>T p.P1565L Substitution - Missense Skin COSM5988118 SMEK1 c.1360-1G>A p.? Unknown Salivary_gland COSM254572 BRPF1 c.3347G>A p.R1116Q Substitution - Missense Urinary_tract COSM4672090 CHD7 c.7330T>G p.L2444V Substitution - Missense Large_intestine COSM5990203 HNF1A c.666_667insAG p.N223fs*11 Insertion - Frameshift Liver COSM5784800 BAZ1A c.3947G>C p.R1316T Substitution - Missense Breast COSM3547200 NCOA5 c.959C>T p.A320V Substitution - Missense Skin COSM3362445 JMJD6 c.926C>G p.S309* Substitution - Nonsense Kidney COSM4990268 KMT2D c.2691C>T p.P897P Substitution - coding silent Skin COSM5968316 NCOA1 c.3108G>T p.M1036I Substitution - Missense Genital_tract COSM4384958 PHF12 c.2888G>A p.S963N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5030671 SMARCC1 c.1783_1790delGATTTGCA p.D595fs*7 Deletion - Frameshift Bone COSM1641340 ACTR5 c.620A>C p.N207T Substitution - Missense Stomach COSM217148 CHD3 c.5323C>G p.P1775A Substitution - Missense Liver COSM2753100 PRMT1 c.1008C>T p.C336C Substitution - coding silent Prostate COSM5444742 AIRE c.548C>A p.T183N Substitution - Missense Oesophagus COSM302912 PHF21A c.1783G>T p.G595W Substitution - Missense Central_nervous_system COSM120932 KIAA1045 c.698G>A p.R233Q Substitution - Missense Upper_aerodigestive_tract COSM1382747 PCGF2 c.69delG p.Y24fs*44 Deletion - Frameshift Large_intestine COSM5463135 NCOA1 c.4093G>T p.G1365C Substitution - Missense Large_intestine COSM88763 CREBBP c.4078C>T p.R1360* Substitution - Nonsense Stomach COSM287290 MTA1 c.113_114insG p.E39fs*32 Insertion - Frameshift Large_intestine COSM1173574 HCFC1 c.734G>A p.R245H Substitution - Missense Oesophagus COSM225885 KMT2C c.1139G>T p.R380L Substitution - Missense Soft_tissue COSM5721127 KMT2C c.5475C>T p.F1825F Substitution - coding silent Skin COSM5553431 EYA4 c.1279G>C p.E427Q Substitution - Missense Prostate COSM1415171 SMARCB1 c.537C>T p.N179N Substitution - coding silent Stomach COSM5731840 ATRX c.6124C>T p.Q2042* Substitution - Nonsense Soft_tissue COSM1754848 TDRD6 c.4165G>C p.D1389H Substitution - Missense Urinary_tract COSM51221 ARID1A c.4926_4927insTGGC p.P1643fs*6 Insertion - Frameshift Ovary COSM1071744 PRDM1 c.1245C>T p.L415L Substitution - coding silent Endometrium COSM1019231 DNMT3A c.2028G>A p.R676R Substitution - coding silent Endometrium COSM3548781 DIDO1 c.4952C>T p.S1651L Substitution - Missense Skin COSM134163 STK31 c.2629A>T p.K877* Substitution - Nonsense Skin COSM5610646 SMARCB1 c.375C>T p.A125A Substitution - coding silent Skin COSM3615199 PRDM9 c.663C>T p.P221P Substitution - coding silent Skin COSM5752694 ARID1A c.1602C>A p.Y534* Substitution - Nonsense Breast COSM4383758 TET2 c.397delC p.P133fs*12 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4663229 ARID1A c.4399delC p.P1468fs*13 Deletion - Frameshift Endometrium COSM13396 MSH6 c.1723G>T p.D575Y Substitution - Missense Endometrium COSM5508649 CHD6 c.6304G>C p.D2102H Substitution - Missense Biliary_tract COSM5599590 GABRG1 c.490C>T p.P164S Substitution - Missense Skin COSM1978308 RAG2 c.1517G>A p.R506H Substitution - Missense Large_intestine COSM4130522 BPTF c.5831C>G p.S1944C Substitution - Missense Thyroid COSM3901344 NCOA2 c.1212C>A p.A404A Substitution - coding silent Stomach COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1080960 PHF3 c.4185A>G p.E1395E Substitution - coding silent Endometrium COSM4767399 ATRX c.6224G>A p.G2075E Substitution - Missense Adrenal_gland COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5155700 MORF4L2 c.577A>G p.M193V Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4097539 ASXL1 c.222G>A p.L74L Substitution - coding silent Stomach COSM4767762 SMARCA4 c.3610C>T p.L1204F Substitution - Missense Biliary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM719535 IDH1 c.662G>T p.G221V Substitution - Missense Lung COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM256043 DNMT3A c.1507A>G p.T503A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1316615 BRWD3 c.2458T>A p.S820T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM22594 MEN1 c.758C>T p.S253L Substitution - Missense Stomach COSM4104941 BRD1 c.1335G>A p.P445P Substitution - coding silent Stomach COSM4838775 TTF2 c.1650T>C p.L550L Substitution - coding silent Cervix COSM463498 TDRD5 c.1631G>A p.R544Q Substitution - Missense Kidney COSM1716583 BAP1 c.2057-?_2190+?del p.? Unknown Pleura COSM1061379 KDM3B c.5143C>T p.R1715C Substitution - Missense Endometrium COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM5053531 DMAP1 c.175G>A p.A59T Substitution - Missense Stomach COSM3022243 ARID1B c.1551C>T p.Y517Y Substitution - coding silent Large_intestine COSM1238061 IKZF1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5977725 MSH6 c.3038A>C p.K1013T Substitution - Missense Central_nervous_system COSM214010 BRD8 c.361C>T p.R121W Substitution - Missense Bone COSM5547651 SETD2 c.1492delT p.S498fs*5 Deletion - Frameshift Prostate COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4592287 SP140_ENST00000392045 c.1948C>G p.P650A Substitution - Missense Upper_aerodigestive_tract COSM4850073 KMT2D c.3244G>A p.E1082K Substitution - Missense Cervix COSM5752365 KMT2C c.653delA p.D218fs*43 Deletion - Frameshift Breast COSM4682132 EYA3 c.738G>A p.A246A Substitution - coding silent Large_intestine COSM4517630 SETD1A c.3872_3873CC>TT p.P1291L Substitution - Missense Skin COSM4992306 NSD1 c.7443G>C p.E2481D Substitution - Missense Skin COSM367420 DAXX c.1235C>T p.S412F Substitution - Missense Lung COSM4689972 HELLS c.2155G>A p.V719I Substitution - Missense Large_intestine COSM4991283 DOT1L c.2306C>T p.P769L Substitution - Missense Skin COSM483129 BRD9 c.1449C>A p.T483T Substitution - coding silent Kidney COSM1108212 TAF1L c.5087C>A p.S1696Y Substitution - Missense Endometrium COSM4092260 SP140_ENST00000392045 c.1614C>T p.N538N Substitution - coding silent Prostate COSM1477114 ZMYM2 c.2327_2328delCT p.L777fs*1 Deletion - Frameshift Breast COSM242548 KDM6A c.3189_3196delTGAATCTA p.E1064fs*4 Deletion - Frameshift Prostate COSM188274 MYST3 c.4427C>T p.A1476V Substitution - Missense Large_intestine COSM129640 TDRD1 c.3425G>A p.C1142Y Substitution - Missense Upper_aerodigestive_tract COSM1700786 SMARCA2 c.1952C>T p.S651F Substitution - Missense Skin COSM144605 KMT2D c.631C>T p.Q211* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4909949 AICDA c.86T>G p.L29R Substitution - Missense Liver COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM46414 TET2 c.1903C>T p.Q635* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM51441 ARID1A c.5161C>T p.R1721* Substitution - Nonsense Stomach COSM53028 EZH2 c.434T>G p.F145C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM73864 BRWD1 c.1185G>T p.W395C Substitution - Missense Ovary COSM112087 TDG c.286_287insA p.I98fs*6 Insertion - Frameshift Upper_aerodigestive_tract COSM146277 RAI1 c.840delG p.Q280fs*84 Deletion - Frameshift Upper_aerodigestive_tract COSM203452 SND1 c.2298C>T p.Y766Y Substitution - coding silent Cervix COSM217036 ARID1A c.3817_3841del25 p.G1274fs*7 Deletion - Frameshift Liver COSM224796 ARID1A c.3152T>G p.L1051R Substitution - Missense Skin COSM226979 PRDM9 c.2440A>C p.S814R Substitution - Missense Skin COSM227292 CHD7 c.5320C>T p.P1774S Substitution - Missense Skin COSM231556 DNMT3A c.1640T>A p.L547H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM238563 TRRAP c.6023C>T p.P2008L Substitution - Missense Prostate COSM255036 ZMYND8 c.1693C>T p.L565F Substitution - Missense Breast COSM251379 ARID1A c.2457_2458insC p.N820fs*52 Insertion - Frameshift Liver COSM263610 SETD5_ENST00000402198 c.3386A>C p.K1129T Substitution - Missense Large_intestine COSM263089 PRDM2 c.3838A>G p.I1280V Substitution - Missense Large_intestine COSM284493 RBBP5 c.1240A>C p.N414H Substitution - Missense Large_intestine COSM302342 GTF3C1 c.4978C>A p.R1660S Substitution - Missense Central_nervous_system COSM356095 HAT1 c.592A>G p.R198G Substitution - Missense Lung COSM363452 TAF1L c.2605G>C p.A869P Substitution - Missense Lung COSM372098 ASH1L c.8634G>T p.E2878D Substitution - Missense Lung COSM393842 EYA1 c.512G>T p.S171I Substitution - Missense Lung COSM445644 HDAC11 c.753C>T p.P251P Substitution - coding silent Thyroid COSM549563 ING4 c.730G>C p.E244Q Substitution - Missense Lung COSM972498 CTCF c.1697G>A p.R566H Substitution - Missense Endometrium COSM685256 TAF3 c.2372G>A p.R791K Substitution - Missense Lung COSM1046993 BAP1 c.1226T>C p.V409A Substitution - Missense Endometrium COSM1047004 PHF7 c.778G>T p.D260Y Substitution - Missense Endometrium COSM1023498 KDM3A c.1974T>C p.V658V Substitution - coding silent Endometrium COSM939212 KDM5A c.3091C>T p.R1031C Substitution - Missense Endometrium COSM743051 PHIP c.2196A>T p.V732V Substitution - coding silent Lung COSM699906 INOC1 c.3817G>A p.E1273K Substitution - Missense Lung COSM1716784 TET2 c.3501-1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM911674 PHF13 c.375G>T p.R125S Substitution - Missense Endometrium COSM933793 ACTR6 c.516-1G>A p.? Unknown Endometrium COSM895012 PRDM2 c.2337C>T p.S779S Substitution - coding silent Endometrium COSM990738 SMARCA4 c.1683G>T p.V561V Substitution - coding silent Endometrium COSM1602134 ARID1A c.666delC p.P224fs*8 Deletion - Frameshift Large_intestine COSM1034571 EP300 c.4933C>T p.R1645* Substitution - Nonsense Urinary_tract COSM1066269 NSD1 c.4856G>A p.C1619Y Substitution - Missense Endometrium COSM969942 SRCAP c.7249G>A p.A2417T Substitution - Missense Breast COSM1061365 KDM3B c.4483C>T p.R1495* Substitution - Nonsense Oesophagus COSM1123035 SMC1A c.1756C>T p.R586W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1117747 HCFC1 c.2693C>T p.T898I Substitution - Missense Endometrium COSM1125863 BRWD3 c.1672C>T p.H558Y Substitution - Missense Endometrium COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1167907 ARID2 c.5147+1G>A p.? Unknown Skin COSM1236652 RNF17 c.336G>T p.Q112H Substitution - Missense Autonomic_ganglia COSM1245445 ARID1A c.1891_1897delAGCCTTC p.L632fs*13 Deletion - Frameshift Oesophagus COSM1163731 ADNP c.3047delA p.K1016fs*11 Deletion - Frameshift Large_intestine COSM1162748 BRD9 c.928A>T p.M310L Substitution - Missense Skin COSM1162748 BRD9 c.928A>T p.M310L Substitution - Missense Upper_aerodigestive_tract COSM1179221 KMT2A c.5698C>T p.H1900Y Substitution - Missense Prostate COSM1323222 INOC1 c.3788A>T p.E1263V Substitution - Missense Ovary COSM1331191 FMR1 c.1817G>A p.R606H Substitution - Missense Large_intestine COSM1399840 MBD5 c.790A>C p.S264R Substitution - Missense Large_intestine COSM1429112 WHSC1 c.4021delC p.P1343fs*>23 Deletion - Frameshift Stomach COSM1437262 NIPBL c.1801delA p.K603fs*11 Deletion - Frameshift Large_intestine COSM1457132 MYST3 c.3727delG p.D1243fs*51 Deletion - Frameshift Large_intestine COSM1341407 ARID1A c.3340delC p.P1115fs*46 Deletion - Frameshift Large_intestine COSM1476606 KMT2D c.4672G>C p.D1558H Substitution - Missense Breast COSM1581045 IDH1 c.16A>G p.S6G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1635225 HDAC9 c.2215-2A>T p.? Unknown Liver COSM1638242 CHD9 c.3312T>C p.N1104N Substitution - coding silent Bone COSM1660797 BRD8 c.1736C>T p.S579F Substitution - Missense Kidney COSM1753466 TET2 c.2125G>A p.E709K Substitution - Missense Urinary_tract COSM1741061 KMT2D c.4346_4347insGG p.S1449fs*13 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1747491 TDRD3 c.1773C>T p.F591F Substitution - coding silent Urinary_tract COSM1965083 KAT6B c.1170A>G p.A390A Substitution - coding silent Upper_aerodigestive_tract COSM2178796 TTF2 c.1065G>C p.E355D Substitution - Missense Lung COSM2732605 PHF2 c.1433C>T p.A478V Substitution - Missense Large_intestine COSM2747745 DOT1L c.4509C>T p.A1503A Substitution - coding silent Large_intestine COSM2810309 ASXL3 c.1091delA p.N365fs*19 Deletion - Frameshift Large_intestine COSM3089665 EHMT1 c.1829C>T p.T610M Substitution - Missense Liver COSM3153105 EP300 c.1777C>T p.P593S Substitution - Missense Skin COSM3296310 EPC2 c.2124A>G p.L708L Substitution - coding silent Upper_aerodigestive_tract COSM3294965 ZMYND8 c.588C>T p.P196P Substitution - coding silent Large_intestine COSM3373815 NSD1 c.4463A>G p.N1488S Substitution - Missense Thyroid COSM3487581 ARID1A c.2732+2T>C p.? Unknown Oesophagus COSM3501115 MGA c.8161C>T p.P2721S Substitution - Missense Skin COSM3415873 PHF21A c.270A>G p.Q90Q Substitution - coding silent Large_intestine COSM3475379 HDGF c.308C>T p.S103F Substitution - Missense Skin COSM3460964 ARID2 c.862C>T p.Q288* Substitution - Nonsense Skin COSM3464389 CHD4 c.2322C>T p.S774S Substitution - coding silent Skin COSM3578898 SP140_ENST00000392045 c.1111G>A p.E371K Substitution - Missense Skin COSM3579803 HDAC4 c.1716C>T p.P572P Substitution - coding silent Skin COSM3662775 MLL5 c.169A>G p.I57V Substitution - Missense Liver COSM3732566 EYA4 c.34-6T>G p.? Unknown Stomach COSM3710701 HNF1A c.1270C>A p.P424T Substitution - Missense Upper_aerodigestive_tract COSM3726023 CHD2 c.2087T>A p.F696Y Substitution - Missense Lung COSM3733406 KMT2C c.11879G>A p.R3960Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3804818 ARID1A c.2132C>G p.S711* Substitution - Nonsense Breast COSM3795981 BPTF c.2424C>G p.I808M Substitution - Missense Urinary_tract COSM3859982 ARID1B c.4303C>T p.Q1435* Substitution - Nonsense Stomach COSM3845463 BRWD3 c.4174A>G p.K1392E Substitution - Missense Breast COSM3883730 TRRAP c.4766A>T p.N1589I Substitution - Missense Stomach COSM3874535 TDRD6 c.4391A>C p.D1464A Substitution - Missense Stomach COSM3959511 SMARCA4 c.4343C>T p.A1448V Substitution - Missense Lung COSM3972885 SMARCB1 c.1129C>T p.R377C Substitution - Missense Large_intestine COSM4054554 MGA c.196C>T p.L66F Substitution - Missense Stomach COSM3986529 TRIM66 c.3649T>C p.*1217R Nonstop extension Kidney COSM3989846 GATAD2A c.1202C>T p.T401M Substitution - Missense Kidney COSM4129609 NCOR1 c.568C>T p.R190* Substitution - Nonsense Thyroid COSM4134439 DNMT3B c.1321A>G p.K441E Substitution - Missense Thyroid COSM4602101 BRD7 c.632A>G p.N211S Substitution - Missense Upper_aerodigestive_tract COSM4574967 PRDM4 c.748G>A p.G250R Substitution - Missense Bone COSM4439394 CHD7 c.1007A>G p.N336S Substitution - Missense Oesophagus COSM4578635 CHD2 c.1578G>A p.L526L Substitution - coding silent Bone COSM4493777 PRDM8 c.420C>T p.L140L Substitution - coding silent Skin COSM4522324 FTO c.1157G>A p.G386D Substitution - Missense Skin COSM4766104 TET2 c.1411_1412insA p.S471fs*8 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4677508 DIDO1 c.2841C>T p.S947S Substitution - coding silent Large_intestine COSM4625786 BRPF3 c.1636A>G p.K546E Substitution - Missense Large_intestine COSM4606555 SUZ12 c.1692_1704del13 p.Y565fs*13 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4749522 CHD3 c.2824G>C p.E942Q Substitution - Missense Stomach COSM4788800 MORF4L1 c.1035C>T p.F345F Substitution - coding silent Liver COSM4940128 GATAD2A c.1103G>T p.R368L Substitution - Missense Liver COSM4830922 EZH2 c.1090C>T p.P364S Substitution - Missense Cervix COSM4838455 RAI1 c.2605G>C p.E869Q Substitution - Missense Cervix COSM4949732 KAT5 c.1019G>A p.R340H Substitution - Missense Liver COSM4966313 HCFC1 c.419C>T p.T140I Substitution - Missense Prostate COSM4990809 IDH2 c.148G>A p.V50M Substitution - Missense Skin COSM5002953 PHF10 c.635A>T p.D212V Substitution - Missense Pancreas COSM4985403 KDM4D c.1497C>A p.D499E Substitution - Missense Soft_tissue COSM4978255 KMT2A c.11056A>T p.I3686F Substitution - Missense Oesophagus COSM5031759 ARID1A c.1624C>T p.Q542* Substitution - Nonsense Biliary_tract COSM5032151 SP100 c.381C>T p.S127S Substitution - coding silent Oesophagus COSM5046838 KMT2C c.1901T>C p.V634A Substitution - Missense Oesophagus COSM5347079 ARID1A c.3881T>C p.I1294T Substitution - Missense Endometrium COSM5368805 BAZ2B c.272G>C p.G91A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5413252 KDM5D c.2377G>T p.E793* Substitution - Nonsense Skin COSM5418620 ASH1L c.4030C>G p.P1344A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5492805 MTA2 c.436G>A p.E146K Substitution - Missense Biliary_tract COSM5421414 ARID1A c.5421_5422insT p.K1808fs*1 Insertion - Frameshift Prostate COSM5623645 HDAC10 c.1617A>T p.L539L Substitution - coding silent Oesophagus COSM5725085 NCOR1 c.5065C>T p.P1689S Substitution - Missense Skin COSM5668162 ATAD2B_ENST00000238789 c.1867A>G p.I623V Substitution - Missense Soft_tissue COSM5706307 NCOR1 c.916A>T p.K306* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5704454 ARID2 c.3613G>T p.G1205* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5554461 EHMT1 c.3323G>C p.G1108A Substitution - Missense Prostate COSM5835372 KMT2C c.1825delC p.H609fs*3 Deletion - Frameshift Breast COSM5800032 MECOM c.49G>T p.E17* Substitution - Nonsense Breast COSM5819635 HDAC6 c.482A>T p.E161V Substitution - Missense Liver COSM5807737 NSD1 c.5960A>G p.Y1987C Substitution - Missense Liver COSM5944713 ASXL1 c.2010_2011insCC p.A671fs*33 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5905972 UBR7 c.805C>T p.L269F Substitution - Missense Skin COSM5978378 SMYD5 c.326C>G p.T109R Substitution - Missense Upper_aerodigestive_tract COSM5985549 TET2 c.2529delG p.N844fs*29 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4167257 TET2 c.? p.L1101I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM303942 ASXL1 c.? p.?* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5551977 PCGF2 c.79G>A p.D27N Substitution - Missense Prostate COSM1406743 ATAD2B_ENST00000238789 c.1404delT p.F468fs*9 Deletion - Frameshift Large_intestine COSM1007246 EPC2 c.994C>T p.R332C Substitution - Missense Large_intestine COSM3896888 PHF20L1 c.23G>A p.R8H Substitution - Missense Stomach COSM347990 CBX6 c.133G>C p.E45Q Substitution - Missense Lung COSM350856 ZCWPW2 c.408G>T p.E136D Substitution - Missense Lung COSM4751602 ARID1A c.3832C>T p.H1278Y Substitution - Missense Stomach COSM51991 BAP1 c.516C>G p.S172R Substitution - Missense Skin COSM1665123 ZMYND8 c.1664C>A p.S555* Substitution - Nonsense Kidney COSM3144284 KDM5D c.4052C>T p.A1351V Substitution - Missense Upper_aerodigestive_tract COSM1101 SMARCB1 c.?_?del? p.?del Deletion - In frame Soft_tissue COSM4821041 BRWD3 c.791C>T p.S264L Substitution - Missense Cervix COSM21481 HNF1A c.872_873insC p.G292fs*25 Insertion - Frameshift Liver COSM347929 ASH1L c.8888G>A p.R2963Q Substitution - Missense Lung COSM1067079 PRDM9 c.1222G>A p.E408K Substitution - Missense Endometrium COSM4396242 PRDM9 c.2485G>A p.E829K Substitution - Missense Skin COSM4603373 EP400 c.8156_8157insGCA p.Q2748_T2749insQ Insertion - In frame Upper_aerodigestive_tract COSM3719249 ASXL3 c.1546G>A p.E516K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5644308 BRPF1 c.1344G>A p.T448T Substitution - coding silent Oesophagus COSM461866 JARID2 c.1509G>A p.T503T Substitution - coding silent Large_intestine COSM5974925 SETD5_ENST00000402198 c.2601G>T p.Q867H Substitution - Missense Upper_aerodigestive_tract COSM2932732 ZGPAT c.738C>T p.Y246Y Substitution - coding silent Central_nervous_system COSM1660727 BAP1 c.689T>A p.L230Q Substitution - Missense Kidney COSM1592600 CHD6 c.5112G>T p.E1704D Substitution - Missense Endometrium COSM4603373 EP400 c.8156_8157insGCA p.Q2748_T2749insQ Insertion - In frame Upper_aerodigestive_tract COSM5799851 MYST3 c.1502C>A p.P501H Substitution - Missense Breast COSM4770909 PWWP2B c.483G>A p.P161P Substitution - coding silent Pleura COSM4498133 PHF14 c.512C>T p.T171I Substitution - Missense Skin COSM3405165 NCOA3 c.3152G>T p.R1051I Substitution - Missense Central_nervous_system COSM3636477 KMT2C c.9977C>T p.P3326L Substitution - Missense Skin COSM1351609 KMT2A c.2312delC p.P773fs*8 Deletion - Frameshift Large_intestine COSM3069015 SETD2 c.2952G>A p.K984K Substitution - coding silent Large_intestine COSM3447093 RAG2 c.661G>A p.G221R Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4591407 DIDO1 c.4872G>C p.K1624N Substitution - Missense Upper_aerodigestive_tract COSM754401 KIAA2026_ENST00000399933 c.1370G>T p.R457M Substitution - Missense Lung COSM6008947 KMT2A c.8602G>A p.E2868K Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM971997 SETD6 c.1125C>T p.S375S Substitution - coding silent Endometrium COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM4645868 PRDM16 c.2653A>G p.K885E Substitution - Missense Large_intestine COSM5440640 PHF20 c.2539T>C p.Y847H Substitution - Missense Oesophagus COSM417165 RAI1 c.5106C>T p.L1702L Substitution - coding silent Urinary_tract COSM1111297 PHF2 c.1645G>A p.E549K Substitution - Missense Endometrium COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM954576 PRMT5 c.309C>T p.S103S Substitution - coding silent Endometrium COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Soft_tissue COSM1017646 SP100 c.683C>T p.S228L Substitution - Missense Endometrium COSM5427326 PHIP c.3468G>A p.W1156* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1283941 CBX2 c.1032G>C p.Q344H Substitution - Missense Autonomic_ganglia COSM737908 NIPBL c.3133C>G p.Q1045E Substitution - Missense Lung COSM295072 DNMT3A c.1179T>C p.S393S Substitution - coding silent Breast COSM4492102 KAT6B c.3910C>T p.P1304S Substitution - Missense Skin COSM5514489 ATAD2B_ENST00000238789 c.1578A>T p.V526V Substitution - coding silent Biliary_tract COSM221796 TDG c.602A>C p.K201T Substitution - Missense Liver COSM85916 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1067094 PRDM9 c.2496T>C p.Y832Y Substitution - coding silent Endometrium COSM1386948 CBX8 c.956_957insG p.L320fs*38 Insertion - Frameshift Large_intestine COSM3798077 BAZ2B c.2884C>T p.Q962* Substitution - Nonsense Urinary_tract COSM317283 EP300 c.3857A>G p.N1286S Substitution - Missense Large_intestine COSM43417 TET2 c.2746C>T p.Q916* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5372423 RAG2 c.1483C>T p.L495L Substitution - coding silent Skin COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5986701 EHMT2 c.103_104delGA p.R36fs*11 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4945411 ARID1B c.2171G>T p.G724V Substitution - Missense Liver COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4957883 EP400 c.7683G>A p.A2561A Substitution - coding silent Liver COSM4169403 EP300 c.? p.R604Q Substitution - Missense Skin COSM4135321 ATRX c.6829G>T p.E2277* Substitution - Nonsense Pancreas COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3807979 BTAF1 c.3826T>G p.W1276G Substitution - Missense Breast COSM87001 DNMT3A c.2644C>A p.R882S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4600022 CREBBP c.3274C>T p.Q1092* Substitution - Nonsense Upper_aerodigestive_tract COSM5945720 ATRX c.? p.E884D Substitution - Missense Central_nervous_system COSM1666833 CBX4 c.1514T>C p.V505A Substitution - Missense Eye COSM703464 CHD9 c.6471C>T p.S2157S Substitution - coding silent Lung COSM1439505 PRDM1 c.2118C>T p.L706L Substitution - coding silent Large_intestine COSM1360188 EP400 c.8187G>A p.Q2729Q Substitution - coding silent Large_intestine COSM461746 PHF3 c.4792C>T p.Q1598* Substitution - Nonsense Cervix COSM4821763 EP300 c.3935G>A p.R1312Q Substitution - Missense Cervix COSM1666862 ARID1A c.? p.? Unknown Endometrium COSM2141008 CHD2 c.5001G>A p.Q1667Q Substitution - coding silent Large_intestine COSM484175 CDYL c.806G>A p.G269D Substitution - Missense Kidney COSM1184395 BAHCC1 c.5051G>A p.R1684H Substitution - Missense Large_intestine COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1063505 HDAC3 c.328G>A p.A110T Substitution - Missense Endometrium COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53164 TET2 c.? p.Q1687* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM685313 KAT6B c.3329C>T p.P1110L Substitution - Missense Lung COSM1130935 PHF15 c.1842G>A p.G614G Substitution - coding silent Prostate COSM1220320 PHC2 c.1985C>T p.S662F Substitution - Missense Large_intestine COSM51976 BAP1 c.507C>G p.H169Q Substitution - Missense Eye COSM737896 NIPBL c.5641A>G p.T1881A Substitution - Missense Lung COSM5046829 PRDM9 c.1469G>T p.G490V Substitution - Missense Oesophagus COSM1026842 CHD6 c.7652C>T p.P2551L Substitution - Missense Large_intestine COSM3545554 NCOA6 c.4685C>T p.P1562L Substitution - Missense Skin COSM1235643 HDGF c.403G>A p.E135K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1746527 SUV420H1 c.76C>T p.Q26* Substitution - Nonsense Urinary_tract COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM297939 CBX8 c.942_943insC p.S315fs*43 Insertion - Frameshift Large_intestine COSM5707146 KDM4B c.2627C>T p.T876M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3773644 KMT2D c.248G>A p.R83Q Substitution - Missense Soft_tissue COSM985847 BAHCC1 c.1532C>T p.P511L Substitution - Missense Endometrium COSM2965310 KDM6A c.493C>T p.R165* Substitution - Nonsense Oesophagus COSM3910072 NCOA1 c.2015C>T p.S672L Substitution - Missense Skin COSM5756831 BAG6 c.1482C>T p.T494T Substitution - coding silent Large_intestine COSM1186275 SMARCC1 c.3010C>T p.H1004Y Substitution - Missense Lung COSM4729946 SRCAP c.8246A>G p.K2749R Substitution - Missense Large_intestine COSM5727589 ATAD2 c.4160G>A p.S1387N Substitution - Missense Skin COSM1489973 KIAA1045 c.967T>C p.W323R Substitution - Missense Breast COSM3717744 CHD3 c.5928G>A p.M1976I Substitution - Missense Liver COSM4151858 EYA1 c.807A>C p.A269A Substitution - coding silent Ovary COSM5600534 SMYD1 c.290G>A p.G97E Substitution - Missense Skin COSM1745147 PBRM1 c.674delA p.K225fs*4 Deletion - Frameshift Urinary_tract COSM1719155 INOC1 c.4484C>T p.S1495F Substitution - Missense Skin COSM378145 PHC1 c.2156T>C p.M719T Substitution - Missense Lung COSM1226801 SMARCD3 c.1056G>T p.E352D Substitution - Missense Large_intestine COSM3737458 PHF15 c.1218G>A p.E406E Substitution - coding silent Soft_tissue COSM4500222 TDRD1 c.55C>T p.P19S Substitution - Missense Skin COSM1707394 ARID4A c.3724C>T p.P1242S Substitution - Missense Skin COSM5989626 ASXL1 c.1887delT p.H630fs*73 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1615687 ZMYND8 c.3306G>T p.E1102D Substitution - Missense Liver COSM3237287 KDM3B c.1260C>T p.S420S Substitution - coding silent Oesophagus COSM3703177 KMT2C c.7064T>G p.L2355R Substitution - Missense Liver COSM73047 TP53BP1 c.3470T>G p.M1157R Substitution - Missense Ovary COSM4162078 HDAC9 c.2317C>A p.L773M Substitution - Missense Thyroid COSM5600274 PRDM15 c.2619C>T p.R873R Substitution - coding silent Skin COSM5886478 L3MBTL3 c.1687T>C p.C563R Substitution - Missense Skin COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM4663238 ARID1B c.787_789delGGA p.G270delG Deletion - In frame Large_intestine COSM1125455 ATRX c.3905G>T p.R1302I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5612595 BRD7 c.447-2A>G p.? Unknown Adrenal_gland COSM97134 PRDM1 c.733_734delGA p.D245fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM478085 PHF20 c.1261C>A p.Q421K Substitution - Missense Kidney COSM1093654 TRRAP c.6819C>T p.S2273S Substitution - coding silent Endometrium COSM1524523 MBD3 c.729G>A p.L243L Substitution - coding silent Cervix COSM1360186 EP400 c.8178A>G p.Q2726Q Substitution - coding silent Large_intestine COSM280199 CTCF c.1034A>G p.H345R Substitution - Missense Large_intestine COSM307153 TRRAP c.8949G>T p.A2983A Substitution - coding silent Central_nervous_system COSM1312605 ING3 c.966A>T p.L322F Substitution - Missense Urinary_tract COSM4645517 PRDM8 c.1684C>A p.L562M Substitution - Missense Large_intestine COSM4134435 ASXL1 c.3759T>C p.S1253S Substitution - coding silent Soft_tissue COSM4520239 KMT2A c.10486G>A p.E3496K Substitution - Missense Skin COSM292463 SMARCA4 c.1216G>A p.A406T Substitution - Missense Large_intestine COSM4074046 SMARCA4 c.2987T>G p.I996S Substitution - Missense Stomach COSM168089 KMT2D c.6251delC p.P2084fs*30 Deletion - Frameshift Stomach COSM5709885 SHPRH c.2527C>T p.R843* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4441243 TET2 c.2291A>G p.Q764R Substitution - Missense Large_intestine COSM4975591 TRRAP c.5001G>A p.M1667I Substitution - Missense Oesophagus COSM435379 CHD9 c.226T>G p.S76A Substitution - Missense Breast COSM4003461 NSD1 c.6829T>C p.L2277L Substitution - coding silent Soft_tissue COSM4520046 PRDM16 c.103G>A p.E35K Substitution - Missense Skin COSM913227 BRDT c.574G>T p.V192L Substitution - Missense Endometrium COSM4405329 ASXL3 c.2409G>A p.T803T Substitution - coding silent Bone COSM1245459 ARID2 c.3370C>T p.Q1124* Substitution - Nonsense Liver COSM4653755 TET2 c.3641G>A p.R1214Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4788368 KIAA2026_ENST00000399933 c.3563C>T p.S1188L Substitution - Missense Liver COSM5788270 PRDM15 c.4189G>A p.E1397K Substitution - Missense Breast COSM1366032 RNF17 c.1318G>A p.D440N Substitution - Missense Large_intestine COSM4975384 KAT2B c.1000C>T p.L334L Substitution - coding silent Oesophagus COSM5562027 TAF3 c.810T>C p.P270P Substitution - coding silent Prostate COSM4170527 PRMT6 c.227T>A p.V76D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM462284 MECP2 c.1079C>T p.S360L Substitution - Missense Cervix COSM5521173 MBD1 c.1440G>T p.L480L Substitution - coding silent Biliary_tract COSM4423900 PHF19 c.72G>T p.G24G Substitution - coding silent Prostate COSM1307273 ASXL1 c.673C>T p.Q225* Substitution - Nonsense Urinary_tract COSM4889808 TRRAP c.3141C>A p.R1047R Substitution - coding silent Upper_aerodigestive_tract COSM5727721 EHMT1 c.3153C>T p.C1051C Substitution - coding silent Skin COSM4185865 WHSC1 c.484G>C p.E162Q Substitution - Missense Kidney COSM110724 BAP1 c.2090C>G p.S697C Substitution - Missense Skin COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5679565 DOT1L c.3359C>A p.P1120H Substitution - Missense Soft_tissue COSM1343128 RAD54L c.154C>T p.R52W Substitution - Missense Central_nervous_system COSM4729925 SRCAP c.341G>A p.R114Q Substitution - Missense Large_intestine COSM3765009 KDM6A c.443+5G>A p.? Unknown Central_nervous_system COSM738270 PRDM9 c.2241C>A p.P747P Substitution - coding silent Lung COSM3693547 EYA2 c.1473C>T p.F491F Substitution - coding silent Large_intestine COSM3636539 KMT2C c.1144G>A p.G382S Substitution - Missense Skin COSM3304171 KMT2C c.6160C>G p.Q2054E Substitution - Missense Prostate COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4474335 KDM4C c.1846C>T p.P616S Substitution - Missense Skin COSM52787 PBRM1 c.1162C>T p.Q388* Substitution - Nonsense Kidney COSM1309358 PBRM1 c.3926T>C p.I1309T Substitution - Missense Urinary_tract COSM3726164 PRDM15 c.3750+1G>T p.? Unknown Lung COSM51216 ARID1A c.585C>A p.Y195* Substitution - Nonsense Ovary COSM1235473 TET2 c.3609C>G p.S1203R Substitution - Missense Upper_aerodigestive_tract COSM5656157 CDYL c.1373_1374delCT p.C460fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4436949 SMARCA1 c.3055C>G p.L1019V Substitution - Missense Oesophagus COSM1341408 ARID1A c.3977_3978insGCA p.Q1334_R1335insQ Insertion - In frame Large_intestine COSM1351653 KMT2A c.8818A>G p.T2940A Substitution - Missense Large_intestine COSM4049558 MTA1 c.1163G>A p.G388E Substitution - Missense Stomach COSM3524726 AP001011.3_ENST00000320876 c.658C>T p.R220C Substitution - Missense Skin COSM5940147 KMT2A c.7564G>A p.V2522M Substitution - Missense Skin COSM328410 BPTF c.3936T>C p.N1312N Substitution - coding silent Pancreas COSM5031451 ZMYM2 c.334A>T p.S112C Substitution - Missense Pancreas COSM3356346 CHD4 c.3733A>C p.S1245R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4144568 SUV39H2 c.116A>C p.N39T Substitution - Missense Thyroid COSM3733336 KMT2C c.2263C>T p.Q755* Substitution - Nonsense Upper_aerodigestive_tract COSM286723 ZMYM6 c.796-1G>T p.? Unknown Large_intestine COSM5818274 PYGO2 c.579G>T p.M193I Substitution - Missense Liver COSM4410724 TAF1L c.361C>T p.Q121* Substitution - Nonsense Kidney COSM3656571 SMARCA2 c.3852C>T p.I1284I Substitution - coding silent Skin COSM281299 GABRG1 c.321+9G>T p.? Unknown Large_intestine COSM307525 PHF1 c.967_969delAAG p.K324delK Deletion - In frame Kidney COSM1215013 MGA c.4340G>A p.G1447D Substitution - Missense Large_intestine COSM4043661 BAZ2A c.4925T>C p.L1642P Substitution - Missense Stomach COSM1243659 TAF1L c.2584C>T p.R862W Substitution - Missense Oesophagus COSM252643 NCOA5 c.1004G>A p.R335H Substitution - Missense Large_intestine COSM1581250 KMT2C c.6034C>T p.P2012S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5626504 KMT2C c.542A>T p.Y181F Substitution - Missense Oesophagus COSM444480 BRWD1 c.864C>T p.Y288Y Substitution - coding silent Large_intestine COSM4766059 SMARCB1 c.906G>A p.G302G Substitution - coding silent Soft_tissue COSM5637236 DNMT3A c.1222G>T p.E408* Substitution - Nonsense Oesophagus COSM4561055 BRWD1 c.867G>T p.M289I Substitution - Missense Skin COSM1645718 CHD4 c.4669G>A p.V1557I Substitution - Missense Kidney COSM5059770 DHX30 c.1134G>A p.L378L Substitution - coding silent Stomach COSM5063212 MYST3 c.2214C>T p.D738D Substitution - coding silent Stomach COSM5947006 MECOM c.587C>A p.S196Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3620518 L3MBTL3 c.1376C>T p.S459F Substitution - Missense Skin COSM4839080 EYA1 c.1624A>C p.I542L Substitution - Missense Cervix COSM120169 TET2 c.3443_3443delA p.Y1148fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM309883 CBX4 c.1008C>G p.S336R Substitution - Missense Soft_tissue COSM140598 KMT2C c.6532C>T p.P2178S Substitution - Missense Skin COSM3452250 KDM2A c.1714C>T p.R572* Substitution - Nonsense Skin COSM3789613 ACTA1 c.707C>A p.S236Y Substitution - Missense Urinary_tract COSM5631938 SETD2 c.2073A>G p.I691M Substitution - Missense Oesophagus COSM920097 SFMBT2 c.789G>T p.K263N Substitution - Missense Endometrium COSM116080 ARID1B c.5672A>C p.Q1891P Substitution - Missense Ovary COSM4959421 MBD3 c.374G>A p.S125N Substitution - Missense Liver COSM6009078 PRDM2 c.385-7C>T p.? Unknown Skin COSM3360521 TDRD5 c.124C>A p.H42N Substitution - Missense Kidney COSM1296228 ARID1A c.6103G>A p.E2035K Substitution - Missense Urinary_tract COSM5344445 KAT2B c.838G>C p.E280Q Substitution - Missense Large_intestine COSM1264947 SCML2 c.1954G>A p.A652T Substitution - Missense Oesophagus COSM927024 PRDM11 c.149T>G p.V50G Substitution - Missense Endometrium COSM3712696 CXXC1 c.1158C>T p.P386P Substitution - coding silent Upper_aerodigestive_tract COSM1699408 TRIM24 c.1248T>A p.N416K Substitution - Missense Skin COSM222118 HDAC9 c.2045G>A p.R682Q Substitution - Missense Skin COSM2230170 PRDM2 c.4852A>G p.S1618G Substitution - Missense Large_intestine COSM337161 NSD1 c.2105C>A p.P702H Substitution - Missense Lung COSM4981434 KIAA2026_ENST00000399933 c.1171G>A p.D391N Substitution - Missense Oesophagus COSM5060000 BRPF1 c.3377T>C p.I1126T Substitution - Missense Stomach COSM4689735 HDAC9 c.3136G>A p.D1046N Substitution - Missense Large_intestine COSM1667117 RERE c.4130A>G p.E1377G Substitution - Missense Large_intestine COSM983323 BPTF c.3884C>T p.T1295I Substitution - Missense Endometrium COSM87013 DNMT3A c.1264_1265ins22 p.L422fs*6 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1050508 PRDM5 c.62T>C p.M21T Substitution - Missense Endometrium COSM3664621 ZCWPW2 c.163G>A p.D55N Substitution - Missense Breast COSM96347 ASXL1 c.? p.G646fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM908430 PHC2 c.235T>C p.Y79H Substitution - Missense Endometrium COSM5704355 EP400 c.8555C>A p.T2852N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3720306 TET2 c.2554G>T p.E852* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM966700 CHD2 c.1234G>A p.E412K Substitution - Missense Endometrium COSM96481 CREBBP c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4608919 CHD6 c.3219C>A p.S1073R Substitution - Missense Adrenal_gland COSM13394 MSH6 c.3261_3262insC p.F1088fs*5 Insertion - Frameshift Endometrium COSM95428 UHRF2 c.2196G>C p.M732I Substitution - Missense Ovary COSM5469716 KAT5 c.731G>A p.R244H Substitution - Missense Large_intestine COSM5756966 SND1 c.1979A>G p.H660R Substitution - Missense Large_intestine COSM352596 CREBBP c.4648G>C p.E1550Q Substitution - Missense Large_intestine COSM4791817 SND1 c.1847C>T p.A616V Substitution - Missense Liver COSM5834921 LMNB1 c.1114delA p.M372fs*10 Deletion - Frameshift Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2150510 CHD8 c.875_876delAG p.Q292fs*128 Deletion - Frameshift Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5762874 EP300 c.1352C>A p.P451H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM746380 STK31 c.1298A>T p.E433V Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4747307 BAZ2A c.5347delA p.S1783fs*5 Deletion - Frameshift Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3445287 PRDM10 c.3269G>A p.G1090D Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4185564 KAT2B c.1676G>A p.C559Y Substitution - Missense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM26947 KMT2C c.13334G>A p.G4445D Substitution - Missense Skin COSM4461388 MUM1 c.1203C>T p.V401V Substitution - coding silent Skin COSM4586100 PRDM13 c.1671G>C p.G557G Substitution - coding silent Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4831227 PHC3 c.20C>T p.P7L Substitution - Missense Cervix COSM953996 MTA1 c.33C>T p.Y11Y Substitution - coding silent Endometrium COSM3676502 BAZ2A c.827T>G p.L276R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4821120 EP300 c.1202C>G p.S401* Substitution - Nonsense Cervix COSM3153144 EP300 c.3695C>T p.S1232F Substitution - Missense Skin COSM4495064 MYST3 c.4454C>T p.S1485F Substitution - Missense Skin COSM5578300 CHD8 c.3388C>T p.R1130C Substitution - Missense Skin COSM4787782 JARID2 c.1844A>G p.H615R Substitution - Missense Liver COSM33732 IDH2 c.515G>T p.R172M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4640177 CARM1 c.1067C>T p.T356M Substitution - Missense Large_intestine COSM2911465 NCOA1 c.3625A>G p.M1209V Substitution - Missense Central_nervous_system COSM1342127 ZMYM4 c.1282delA p.K430fs*6 Deletion - Frameshift Large_intestine COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM896917 ASH1L c.6339C>A p.I2113I Substitution - coding silent Endometrium COSM4855950 KAT6B c.2510G>T p.C837F Substitution - Missense Cervix COSM254824 KMT2C c.12221G>T p.G4074V Substitution - Missense Urinary_tract COSM1609385 BRD7 c.751C>G p.Q251E Substitution - Missense Liver COSM4804521 DAXX c.1252-2A>G p.? Unknown Liver COSM4163725 TAF1L c.1287G>A p.W429* Substitution - Nonsense Thyroid COSM956521 ARID4A c.503G>A p.R168H Substitution - Missense Biliary_tract COSM285930 TRDMT1 c.216G>T p.M72I Substitution - Missense Large_intestine COSM1108230 TAF1L c.3218C>A p.S1073Y Substitution - Missense Endometrium COSM3479348 TDRD5 c.2901G>A p.R967R Substitution - coding silent Skin COSM4886924 TRIM33 c.490C>A p.P164T Substitution - Missense Upper_aerodigestive_tract COSM4167239 TET2 c.? p.V238F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4410851 SUV39H2 c.634delA p.R213fs*2 Deletion - Frameshift Kidney COSM5752667 KMT2C c.2293G>T p.E765* Substitution - Nonsense Breast COSM13926 SMARCD3 c.481G>C p.D161H Substitution - Missense Lung COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24905 HNF1A c.327-2A>T p.? Unknown Liver COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85911 IKZF1 c.161-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM72939 TDRD10 c.570T>G p.H190Q Substitution - Missense Ovary COSM87136 TET2 c.3866G>A p.C1289Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96381 ASXL1 c.2357G>A p.R786K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM112121 PRDM2 c.2104_2105insCTC p.P703_A704insP Insertion - In frame Upper_aerodigestive_tract COSM132751 PRDM9 c.967C>T p.R323W Substitution - Missense Central_nervous_system COSM132898 TET2 c.5038C>T p.Q1680* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM118756 DNMT3B c.723C>G p.A241A Substitution - coding silent Ovary COSM146875 SFMBT2 c.959C>T p.A320V Substitution - Missense Stomach COSM172071 PRMT8 c.420C>T p.I140I Substitution - coding silent Large_intestine COSM168758 TIF1 c.2059C>T p.R687* Substitution - Nonsense Large_intestine COSM215749 SMARCA4 c.2461G>A p.E821K Substitution - Missense Urinary_tract COSM213059 NCOA1 c.2743G>T p.E915* Substitution - Nonsense Breast COSM224798 ZMYM6 c.1199C>T p.S400F Substitution - Missense Skin COSM254835 NCOR1 c.4465C>G p.Q1489E Substitution - Missense Urinary_tract COSM270128 SETBP1 c.2736G>T p.K912N Substitution - Missense Large_intestine COSM262333 NCOA6 c.5126C>A p.S1709Y Substitution - Missense Large_intestine COSM285637 TDG c.651G>T p.Q217H Substitution - Missense Large_intestine COSM275448 HELLS c.292G>T p.E98* Substitution - Nonsense Large_intestine COSM298325 ARID1A c.3978_3980delGCA p.Q1334delQ Deletion - In frame Breast COSM308173 TRIM28 c.1475G>T p.R492L Substitution - Missense Biliary_tract COSM330655 MSH6 c.3254delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM429903 RSF1 c.1989A>C p.K663N Substitution - Missense Breast COSM972740 PRMT7 c.2037C>T p.G679G Substitution - coding silent Endometrium COSM482568 NSD1 c.1290G>A p.Q430Q Substitution - coding silent Kidney COSM480350 PBRM1 c.2576C>A p.S859* Substitution - Nonsense Kidney COSM681261 KDM4A c.352G>T p.E118* Substitution - Nonsense Lung COSM954422 CHD8 c.5632A>G p.I1878V Substitution - Missense Endometrium COSM1031237 DNMT3L c.142A>G p.N48D Substitution - Missense Endometrium COSM1019235 DNMT3A c.1976G>A p.R659H Substitution - Missense Central_nervous_system COSM753637 TAF1L c.3433C>T p.R1145W Substitution - Missense Lung COSM723969 NCOA6 c.1900C>A p.Q634K Substitution - Missense Lung COSM907765 ARID1A c.6762C>G p.Y2254* Substitution - Nonsense Endometrium COSM959472 SETD3 c.1716A>C p.Q572H Substitution - Missense Endometrium COSM926763 RAG2 c.339T>C p.V113V Substitution - coding silent Endometrium COSM995908 DPF1 c.183C>T p.R61R Substitution - coding silent Endometrium COSM1009808 ATF2 c.730G>A p.A244T Substitution - Missense Endometrium COSM1073644 SIRT5 c.851G>T p.R284I Substitution - Missense Endometrium COSM1101403 NCOA2 c.4054G>A p.D1352N Substitution - Missense Endometrium COSM1228423 TAF1L c.2836G>T p.V946F Substitution - Missense Large_intestine COSM1209431 HDGFL1 c.199G>A p.G67S Substitution - Missense Large_intestine COSM1163731 ADNP c.3047delA p.K1016fs*11 Deletion - Frameshift Breast COSM1163731 ADNP c.3047delA p.K1016fs*11 Deletion - Frameshift Breast COSM1173530 PHF2 c.1724C>T p.P575L Substitution - Missense Oesophagus COSM1606206 KMT2D c.7170A>G p.E2390E Substitution - coding silent Liver COSM1331261 SMARCA1 c.1860C>G p.F620L Substitution - Missense Ovary COSM1429842 GABRG1 c.238C>T p.R80C Substitution - Missense Skin COSM1407123 DNMT3A c.137G>A p.R46Q Substitution - Missense Large_intestine COSM1458059 PRDM14 c.543T>C p.G181G Substitution - coding silent Large_intestine COSM1479263 NCOR1 c.6780T>A p.N2260K Substitution - Missense Breast COSM1486703 PRDM9 c.2126C>G p.T709S Substitution - Missense Central_nervous_system COSM1478865 CREBBP c.7115C>T p.S2372L Substitution - Missense Breast COSM1617682 SETD2 c.2801C>G p.S934* Substitution - Nonsense Liver COSM1618225 TET2 c.4618C>A p.Q1540K Substitution - Missense Liver COSM1583102 DNMT3A c.2114T>C p.I705T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1720077 POGZ c.404_405CC>AT p.A135D Substitution - Missense Skin COSM1716682 ATRX c.3345T>G p.Y1115* Substitution - Nonsense Central_nervous_system COSM1748360 PRDM16 c.599T>C p.I200T Substitution - Missense Urinary_tract COSM1978045 PRDM10 c.862C>T p.R288W Substitution - Missense Thyroid COSM2007315 KMT2D c.2383G>A p.A795T Substitution - Missense Large_intestine COSM2150835 ATRX c.5480delT p.L1827fs*9 Deletion - Frameshift Central_nervous_system COSM2158391 JMJD1C c.5488C>T p.R1830W Substitution - Missense Large_intestine COSM2749485 LMNB2 c.1574C>T p.T525M Substitution - Missense Stomach COSM2909117 HDAC4 c.2591G>A p.R864H Substitution - Missense Large_intestine COSM2968193 SMC1A c.986G>A p.R329H Substitution - Missense Kidney COSM3048351 SP140_ENST00000392045 c.1865G>T p.W622L Substitution - Missense Skin COSM3259655 EZH2 c.1253G>A p.R418Q Substitution - Missense Large_intestine COSM3365398 PBRM1 c.1541+1G>T p.? Unknown Kidney COSM3411243 PHF3 c.4683A>G p.R1561R Substitution - coding silent Central_nervous_system COSM3501438 TP53BP1 c.117C>T p.H39H Substitution - coding silent Skin COSM3432136 PHF20L1 c.196C>T p.R66* Substitution - Nonsense Biliary_tract COSM3430727 CDYL c.244C>T p.R82W Substitution - Missense Large_intestine COSM3467594 ZMYM5 c.888G>A p.K296K Substitution - coding silent Skin COSM3621306 SHPRH c.1384C>T p.L462F Substitution - Missense Skin COSM3608570 PHF15 c.1484C>T p.A495V Substitution - Missense Skin COSM3598256 BRPF1 c.2644C>T p.P882S Substitution - Missense Skin COSM3559648 HCFC1 c.949C>A p.P317T Substitution - Missense Skin COSM3510240 CHD9 c.8254G>A p.E2752K Substitution - Missense Skin COSM3650073 CHD7 c.3454G>A p.E1152K Substitution - Missense Skin COSM3680848 DOT1L c.4484A>G p.Q1495R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3686915 BTAF1 c.2635A>T p.K879* Substitution - Nonsense Large_intestine COSM3680603 CHD3 c.467A>C p.Y156S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3711153 PYGO2 c.550C>A p.P184T Substitution - Missense Upper_aerodigestive_tract COSM3726313 BRWD3 c.706C>T p.L236F Substitution - Missense Lung COSM3751678 TRDMT1 c.301C>T p.H101Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3767457 DHX30 c.521G>A p.R174Q Substitution - Missense Liver COSM3865343 PRDM16 c.2976G>A p.S992S Substitution - coding silent Skin COSM3844036 HCFC1 c.3064A>C p.T1022P Substitution - Missense Breast COSM3887015 TP53BP1 c.1681C>T p.P561S Substitution - Missense Skin COSM3975686 PRDM13 c.2055C>G p.D685E Substitution - Missense Central_nervous_system COSM4019323 PRDM10 c.3211A>G p.T1071A Substitution - Missense Stomach COSM4043547 SMARCC2 c.265T>C p.S89P Substitution - Missense Stomach COSM3991374 SMEK2 c.1208T>C p.M403T Substitution - Missense Kidney COSM4119150 PBRM1 c.3151T>G p.F1051V Substitution - Missense Stomach COSM4063043 CDYL2 c.606G>T p.E202D Substitution - Missense Stomach COSM4057177 MORF4L1 c.1045G>A p.D349N Substitution - Missense Stomach COSM4129609 NCOR1 c.568C>T p.R190* Substitution - Nonsense Upper_aerodigestive_tract COSM4129609 NCOR1 c.568C>T p.R190* Substitution - Nonsense Upper_aerodigestive_tract COSM4170148 TET2 c.1836_1837insG p.L615fs*23 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4187483 TAF1L c.3260G>A p.R1087H Substitution - Missense Kidney COSM4382816 PRMT7 c.132+1G>A p.? Unknown Large_intestine COSM4383974 TET2 c.5704T>C p.Y1902H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4418131 SHPRH c.2569+6G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4519744 SMYD2 c.1026G>A p.M342I Substitution - Missense Skin COSM4519885 EPC2 c.1032G>A p.E344E Substitution - coding silent Skin COSM4515222 AP001011.3_ENST00000320876 c.3938_3939CA>TT p.S1313F Substitution - Missense Skin COSM4433083 NCOA3 c.4045C>T p.Q1349* Substitution - Nonsense Oesophagus COSM4422665 SETD2 c.5518G>T p.G1840* Substitution - Nonsense Kidney COSM4703391 MSL3 c.935C>T p.P312L Substitution - Missense Large_intestine COSM4702422 KMT2D c.11984G>A p.G3995D Substitution - Missense Large_intestine COSM4626598 ATRX c.7251G>A p.Q2417Q Substitution - coding silent Large_intestine COSM4754153 KDM6A c.3229G>T p.G1077* Substitution - Nonsense Stomach COSM4799861 RAG2 c.99A>G p.Q33Q Substitution - coding silent Liver COSM4800958 TAF1 c.4203+1G>T p.? Unknown Liver COSM4887363 KMT2D c.8934C>T p.L2978L Substitution - coding silent Upper_aerodigestive_tract COSM4913936 ZMYM5 c.948A>G p.T316T Substitution - coding silent Liver COSM4849507 BRWD1 c.5482G>A p.E1828K Substitution - Missense Cervix COSM4971404 NCOA6 c.1362A>T p.G454G Substitution - coding silent Central_nervous_system COSM5016671 BRWD1 c.5155_5156delGA p.D1719fs*6 Deletion - Frameshift Kidney COSM5007328 ACTR5 c.1733G>A p.R578H Substitution - Missense Large_intestine COSM5060144 SMARCA5 c.2131G>C p.V711L Substitution - Missense Stomach COSM5346994 ARID1A c.6368G>C p.S2123T Substitution - Missense Endometrium COSM5397435 PCGF1 c.460G>A p.D154N Substitution - Missense Skin COSM5447563 SETD2 c.3988G>A p.A1330T Substitution - Missense Large_intestine COSM5440164 PHF12 c.178G>C p.D60H Substitution - Missense Oesophagus COSM5455240 BRPF1 c.2543G>A p.R848Q Substitution - Missense Large_intestine COSM5623006 PRDM14 c.1366G>A p.E456K Substitution - Missense Oesophagus COSM5623327 RSF1 c.718G>T p.E240* Substitution - Nonsense Oesophagus COSM5648185 ING1 c.416C>T p.A139V Substitution - Missense Oesophagus COSM5751890 PHF6 c.881T>C p.I294T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5761259 CHD2 c.677C>T p.A226V Substitution - Missense Pancreas COSM5754840 SRCAP c.1069C>T p.H357Y Substitution - Missense Large_intestine COSM5733006 JMJD1C c.6338G>A p.G2113D Substitution - Missense Pancreas COSM5599907 MBD5 c.2762C>T p.S921F Substitution - Missense Skin COSM5600632 TCF20 c.4975A>T p.K1659* Substitution - Nonsense Skin COSM5582244 PRMT7 c.1441T>G p.F481V Substitution - Missense Skin COSM5671025 ATF7IP c.676G>T p.A226S Substitution - Missense Soft_tissue COSM5679797 BAG6 c.1959A>C p.P653P Substitution - coding silent Soft_tissue COSM5704920 SETDB1 c.3272C>G p.S1091C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5569208 ZGPAT c.702C>T p.H234H Substitution - coding silent Prostate COSM5550675 SMARCA5 c.2605G>A p.A869T Substitution - Missense Prostate COSM5788990 KDM1A c.215G>T p.G72V Substitution - Missense Breast COSM5878855 DNMT3A c.1066C>T p.Q356* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5944905 DNMT3A c.2401A>G p.M801V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5929436 PHC1 c.2810C>T p.P937L Substitution - Missense Skin COSM5917496 ZMYM4 c.4208C>T p.S1403F Substitution - Missense Skin COSM5920287 SUV420H1 c.2552C>T p.P851L Substitution - Missense Skin COSM5940335 SETD8 c.535C>T p.R179C Substitution - Missense Skin COSM5994170 NCOA1 c.1670G>T p.S557I Substitution - Missense Prostate COSM5995013 BRPF1 c.1853C>T p.T618M Substitution - Missense Prostate COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5990826 SP140 c.160G>T p.A54S Substitution - Missense Liver COSM5367631 MECOM c.1536_1537insT p.P513fs*12 Insertion - Frameshift Large_intestine COSM5806204 CHD6 c.2531G>T p.R844L Substitution - Missense Liver COSM4787505 PCGF6 c.988G>A p.A330T Substitution - Missense Liver COSM1108 SMARCB1 c.? p.? Unknown Central_nervous_system COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM53217 ASXL1 c.3002_3011CAGCCTCTGA>TAGGC p.T1001fs*4 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM2961700 MYST3 c.3497G>T p.R1166I Substitution - Missense Large_intestine COSM753644 TAF1L c.4352A>G p.E1451G Substitution - Missense Lung COSM1125477 ATRX c.2741C>T p.A914V Substitution - Missense Endometrium COSM5889816 SP140_ENST00000392045 c.1057+6G>A p.? Unknown Skin COSM3578968 SP100 c.2259C>T p.I753I Substitution - coding silent Skin COSM5008459 TRRAP c.9225T>G p.V3075V Substitution - coding silent Large_intestine COSM5751858 CREBBP c.2701_2702insA p.P901fs*69 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4147408 CHD4 c.1006A>C p.T336P Substitution - Missense Upper_aerodigestive_tract COSM1676466 KMT2A c.4234G>A p.E1412K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1221415 POGZ c.1120C>T p.R374W Substitution - Missense Large_intestine COSM1697957 L3MBTL3 c.260_261AC>TT p.Y87F Substitution - Missense Skin COSM1315860 ASXL1 c.2057_2058insAAAG p.C687fs*32 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM24906 HNF1A c.77T>A p.L26Q Substitution - Missense Liver COSM1606042 PRMT8 c.855G>A p.T285T Substitution - coding silent Liver COSM51247 ARID1A c.3994C>T p.Q1332* Substitution - Nonsense Ovary COSM1228051 SUV420H2 c.206C>T p.T69M Substitution - Missense Large_intestine COSM3701019 MORF4L1 c.680A>G p.K227R Substitution - Missense Liver COSM1165637 NCOA5 c.1240C>T p.L414F Substitution - Missense Large_intestine COSM707002 MYST2 c.1747G>A p.E583K Substitution - Missense Lung COSM3937137 PRMT7 c.98C>T p.S33L Substitution - Missense Oesophagus COSM1030940 PRDM15 c.3316C>T p.H1106Y Substitution - Missense Endometrium COSM379497 EHMT1 c.3737C>T p.A1246V Substitution - Missense Large_intestine COSM4774973 PHF6 c.986A>C p.H329P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4109561 KDM6A c.1962T>C p.P654P Substitution - coding silent Stomach COSM3385240 ASH1L c.2728G>A p.V910M Substitution - Missense Pancreas COSM1414682 PRMT2 c.27A>C p.R9S Substitution - Missense Large_intestine COSM4400209 SP100 c.2508T>G p.Y836* Substitution - Nonsense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1711829 SMARCA4 c.2620C>T p.R874C Substitution - Missense Central_nervous_system COSM3783563 L3MBTL2 c.851G>T p.R284L Substitution - Missense Prostate COSM3981494 MGA c.3200A>T p.Q1067L Substitution - Missense Ovary COSM4097975 PHF20 c.2501A>G p.Y834C Substitution - Missense Stomach COSM87141 TET2 c.3954+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1117755 HCFC1 c.1763C>T p.S588L Substitution - Missense Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Soft_tissue COSM3300313 BAZ2B c.995C>T p.A332V Substitution - Missense Large_intestine COSM5025953 BAP1 c.598G>A p.E200K Substitution - Missense Pleura COSM5944725 ASXL1 c.2945_2946insA p.L983fs*8 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM317631 KMT2A c.9479A>G p.Q3160R Substitution - Missense Soft_tissue COSM5983405 MTA1 c.1856G>A p.R619Q Substitution - Missense Upper_aerodigestive_tract COSM71655 KMT2A c.4391A>G p.E1464G Substitution - Missense Ovary COSM3749297 MGA c.3451G>A p.E1151K Substitution - Missense Large_intestine COSM5748314 BRWD3 c.644T>C p.L215P Substitution - Missense Pancreas COSM729154 PHC3 c.57C>A p.T19T Substitution - coding silent Lung COSM1008159 BAZ2B c.2956C>T p.R986* Substitution - Nonsense Endometrium COSM5708260 SMEK2 c.1035G>T p.Q345H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1685374 TET2 c.3491T>G p.M1164R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3962595 HDAC4 c.1863C>T p.F621F Substitution - coding silent Lung COSM944342 PHC1 c.2610T>G p.I870M Substitution - Missense Endometrium COSM5621875 SMYD4 c.2123C>T p.A708V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1225372 SETD5_ENST00000402198 c.1759A>G p.T587A Substitution - Missense Large_intestine COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM6000512 KDM5A c.1657T>C p.Y553H Substitution - Missense Prostate COSM5727948 ATF2 c.859C>T p.P287S Substitution - Missense Skin COSM745589 HDAC9 c.2776C>A p.L926I Substitution - Missense Lung COSM1373623 PYGO1 c.922C>T p.R308* Substitution - Nonsense Large_intestine COSM3589873 MECOM c.1567C>T p.P523S Substitution - Missense Skin COSM20429 TRRAP c.9809G>A p.R3270H Substitution - Missense Large_intestine COSM1733249 JHDM1D c.2351G>A p.R784H Substitution - Missense Pancreas COSM3799493 PHF20 c.1110G>A p.L370L Substitution - coding silent Urinary_tract COSM4072230 SETBP1 c.768C>A p.P256P Substitution - coding silent Stomach COSM1228832 TDRD6 c.308G>A p.R103H Substitution - Missense Large_intestine COSM1447022 MLL5 c.5505A>C p.G1835G Substitution - coding silent Large_intestine COSM3714711 SMARCA5 c.347C>G p.S116* Substitution - Nonsense Upper_aerodigestive_tract COSM4758036 SIRT7 c.1011G>T p.Q337H Substitution - Missense Stomach COSM1228429 TAF1L c.430G>T p.D144Y Substitution - Missense Large_intestine COSM21484 HNF1A c.495G>T p.W165C Substitution - Missense Liver COSM5949488 KMT2D c.10225C>T p.Q3409* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3113491 SETD1A c.1013C>A p.S338Y Substitution - Missense Large_intestine COSM4040279 EP400 c.5644C>A p.L1882M Substitution - Missense Stomach COSM1753305 PBRM1 c.4530C>T p.L1510L Substitution - coding silent Urinary_tract COSM5392893 BRWD1 c.941_942CC>TT p.P314L Substitution - Missense Skin COSM5063852 SMARCA2 c.3352C>A p.Q1118K Substitution - Missense Stomach COSM5716624 ZCWPW1 c.481G>A p.E161K Substitution - Missense Skin COSM2834883 CHD9 c.4199C>T p.T1400I Substitution - Missense Large_intestine COSM5359456 KIAA1045 c.778C>T p.R260* Substitution - Nonsense Large_intestine COSM4162024 KMT2C c.946A>T p.T316S Substitution - Missense Thyroid COSM3304640 KMT2C c.962G>A p.S321N Substitution - Missense Stomach COSM1628639 KMT2D c.11065C>T p.Q3689* Substitution - Nonsense Liver COSM3890967 ASXL3 c.2180G>A p.G727E Substitution - Missense Skin COSM1375552 CHD2 c.3725delA p.K1245fs*4 Deletion - Frameshift Large_intestine COSM3436548 BMI1 c.686C>T p.P229L Substitution - Missense Skin COSM3652166 TDRD7 c.424C>T p.P142S Substitution - Missense Skin COSM161883 KDM5A c.1303G>A p.E435K Substitution - Missense Breast COSM4725335 SFMBT2 c.27T>C p.N9N Substitution - coding silent Large_intestine COSM99027 TRIM24 c.1597C>T p.P533S Substitution - Missense Stomach COSM267622 TP53BP1 c.3606T>C p.S1202S Substitution - coding silent Large_intestine COSM4162002 KMT2C c.2656C>T p.R886C Substitution - Missense Large_intestine COSM4849020 RTF1 c.227A>T p.E76V Substitution - Missense Cervix COSM1248232 CHD9 c.4921G>A p.V1641I Substitution - Missense Oesophagus COSM3929369 ATAD2 c.1618C>T p.R540W Substitution - Missense Central_nervous_system COSM1334940 HDGF c.149delT p.F50fs*105 Deletion - Frameshift Large_intestine COSM20449 TRIM33 c.3039_3040insA p.H1014fs*10 Insertion - Frameshift Large_intestine COSM261527 KDM5A c.2473G>T p.E825* Substitution - Nonsense Stomach COSM4587339 CBX3 c.253G>T p.E85* Substitution - Nonsense Bone COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5802725 HCFC1 c.415+7A>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM2158493 JMJD1C c.2675C>T p.S892F Substitution - Missense Large_intestine COSM4441975 CHD8 c.406A>G p.M136V Substitution - Missense Large_intestine COSM5509493 SMEK1 c.783T>G p.I261M Substitution - Missense Biliary_tract COSM5914209 TFPT c.24-7C>T p.? Unknown Skin COSM5047834 ARID2 c.947T>C p.L316P Substitution - Missense Oesophagus COSM4986451 BAG6 c.724C>T p.P242S Substitution - Missense Soft_tissue COSM1297355 JMJD1C c.781C>T p.P261S Substitution - Missense Urinary_tract COSM3705807 ZMYM1 c.3232A>G p.I1078V Substitution - Missense Liver COSM4071915 ASXL3 c.2823T>A p.N941K Substitution - Missense Stomach COSM4843429 EHMT2 c.1826C>T p.S609F Substitution - Missense Cervix COSM4949544 ATRX c.4531G>C p.E1511Q Substitution - Missense Liver COSM5922425 WHSC1 c.1922A>T p.Y641F Substitution - Missense Skin COSM4532818 MUM1 c.1921G>A p.G641R Substitution - Missense Skin COSM1125085 HDAC8 c.667C>T p.R223W Substitution - Missense Large_intestine COSM283991 PHF3 c.1304T>C p.I435T Substitution - Missense Large_intestine COSM1394613 KDM4B c.1059C>A p.P353P Substitution - coding silent Large_intestine COSM356743 EP400 c.8223G>A p.Q2741Q Substitution - coding silent Skin COSM5724125 HDAC7 c.978G>A p.G326G Substitution - coding silent Skin COSM1716606 ATRX c.549delA p.D184fs*22 Deletion - Frameshift Central_nervous_system COSM5705055 TDRD5 c.2516C>T p.S839F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3463554 BAZ2A c.782C>T p.S261L Substitution - Missense Skin COSM1341426 ARID1A c.5542delG p.D1850fs*33 Deletion - Frameshift Large_intestine COSM5573600 PCGF2 c.113-1G>A p.? Unknown Prostate COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM20659 TAF1L c.2553delA p.A852fs*14 Deletion - Frameshift Large_intestine COSM4681221 EPC1 c.1002G>A p.P334P Substitution - coding silent Large_intestine COSM980841 MYST2 c.543C>A p.F181L Substitution - Missense Endometrium COSM3363195 NCOA6 c.491G>A p.G164E Substitution - Missense Kidney COSM4384724 KMT2D c.8489C>G p.P2830R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4788264 BAZ2B c.2984A>C p.Q995P Substitution - Missense Liver COSM3827751 NSD1 c.3517C>T p.R1173C Substitution - Missense Breast COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM126806 KMT2C c.12835C>T p.Q4279* Substitution - Nonsense Upper_aerodigestive_tract COSM3727750 KMT2C c.13489A>T p.K4497* Substitution - Nonsense Skin COSM4480773 PRDM9 c.2450C>T p.S817L Substitution - Missense Skin COSM5422011 HDGFL1 c.495C>A p.P165P Substitution - coding silent Prostate COSM3475153 LMNA c.688G>T p.D230Y Substitution - Missense Skin COSM3810593 TRIM66 c.1738C>T p.Q580* Substitution - Nonsense Breast COSM750805 NCOA2 c.1472G>A p.R491H Substitution - Missense Lung COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1969523 BTAF1 c.5496A>C p.Q1832H Substitution - Missense Central_nervous_system COSM1265550 SHPRH c.3997G>A p.E1333K Substitution - Missense Oesophagus COSM260099 CHD9 c.7162C>T p.R2388* Substitution - Nonsense Large_intestine COSM1678410 TP53BP1 c.5573G>T p.R1858I Substitution - Missense Large_intestine COSM5005276 JMJD1C c.2727G>A p.A909A Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM972472 CTCF c.538C>T p.Q180* Substitution - Nonsense Endometrium COSM4439235 ACTR8 c.318A>C p.R106S Substitution - Missense Oesophagus COSM82065 CHD6 c.7074G>C p.L2358L Substitution - coding silent Ovary COSM3740136 CHD6 c.4192C>G p.L1398V Substitution - Missense Liver COSM464743 ORC1 c.1476A>T p.R492R Substitution - coding silent Kidney COSM988855 CXXC1 c.1887C>T p.R629R Substitution - coding silent Large_intestine COSM1491017 HDAC6 c.3469A>G p.I1157V Substitution - Missense Breast COSM4068938 BPTF c.7571A>G p.E2524G Substitution - Missense Stomach COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5925026 BRPF1 c.2681G>A p.R894K Substitution - Missense Skin COSM1753244 DHX30 c.2548G>A p.E850K Substitution - Missense Urinary_tract COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM251269 POGZ c.1261_1263delGCA p.A421delA Deletion - In frame Liver COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM988394 SETBP1 c.3860C>T p.S1287L Substitution - Missense Endometrium COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM683490 PCGF6 c.4G>C p.E2Q Substitution - Missense Lung COSM4609312 KMT2C c.604C>A p.Q202K Substitution - Missense Adrenal_gland COSM198796 PHF2 c.1468delA p.K492fs*6 Deletion - Frameshift Large_intestine COSM3461557 KMT2D c.7258C>T p.L2420L Substitution - coding silent Skin COSM4797694 ORC1 c.605G>A p.W202* Substitution - Nonsense Liver COSM5556232 CHD4 c.3063T>C p.H1021H Substitution - coding silent Prostate COSM3954834 KMT2D c.12908T>A p.F4303Y Substitution - Missense Lung COSM3531886 LMNB2 c.618C>T p.F206F Substitution - coding silent Skin COSM4742896 ZMYM2 c.2048A>G p.Y683C Substitution - Missense Large_intestine COSM21486 HNF1A c.872delC p.P291fs*51 Deletion - Frameshift Large_intestine COSM1627635 KAT6B c.2373+3A>T p.? Unknown Liver COSM4630187 JMJD5 c.1061C>T p.T354M Substitution - Missense Large_intestine COSM3704146 ARID2 c.2045C>G p.S682* Substitution - Nonsense Liver COSM536715 BRDT c.858G>T p.K286N Substitution - Missense Stomach COSM480180 SETD2 c.672C>A p.C224* Substitution - Nonsense Kidney COSM282044 JMJD6 c.239C>A p.S80Y Substitution - Missense Large_intestine COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2813495 SMARCA4 c.500G>A p.R167Q Substitution - Missense Meninges COSM931222 SUV420H1 c.193C>T p.R65C Substitution - Missense Skin COSM1716169 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5063885 TAF1L c.5205A>C p.P1735P Substitution - coding silent Stomach COSM1495213 EP300 c.4287-2A>T p.? Unknown Kidney COSM362816 ATRX c.4537G>T p.E1513* Substitution - Nonsense Lung COSM5606430 CHD6 c.4316T>G p.M1439R Substitution - Missense Skin COSM4291912 ACTR5 c.1083C>T p.I361I Substitution - coding silent Skin COSM1716180 EZH2 c.? p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3935597 KDM2A c.3420C>T p.F1140F Substitution - coding silent Oesophagus COSM1419558 ZBTB38 c.3023G>A p.R1008Q Substitution - Missense Large_intestine COSM87150 TET2 c.4082G>A p.G1361D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1357124 RSF1 c.2199C>T p.I733I Substitution - coding silent Large_intestine COSM3770824 ZMYND8 c.3119-9T>C p.? Unknown Pancreas COSM6018065 BRWD1 c.3482C>T p.S1161L Substitution - Missense Skin COSM121540 PHF19 c.1716G>A p.V572V Substitution - coding silent Upper_aerodigestive_tract COSM1088624 STK31 c.955G>A p.A319T Substitution - Missense Endometrium COSM4008360 DMAP1 c.417G>A p.S139S Substitution - coding silent Stomach COSM5561393 MECOM c.327C>T p.P109P Substitution - coding silent Prostate COSM5004770 PRDM16 c.3270G>A p.T1090T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1738930 ZBTB38 c.1718G>C p.C573S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5729596 PHF20 c.472T>G p.S158A Substitution - Missense Skin COSM231563 DNMT3A c.2311C>T p.R771* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3460969 ARID2 c.2173C>T p.Q725* Substitution - Nonsense Skin COSM4720060 RAI1 c.2053G>T p.G685W Substitution - Missense Large_intestine COSM5630511 SRCAP c.7492G>C p.A2498P Substitution - Missense Oesophagus COSM24898 HNF1A c.196G>T p.E66* Substitution - Nonsense Liver COSM1184496 BAZ2B c.741T>G p.S247R Substitution - Missense Large_intestine COSM4996218 DNMT3A c.2173+1G>C p.? Unknown Upper_aerodigestive_tract COSM4951169 ARID2 c.5131C>T p.Q1711* Substitution - Nonsense Liver COSM218404 ARID2 c.940C>A p.R314S Substitution - Missense Pancreas COSM3693809 DNMT3L c.811C>T p.R271W Substitution - Missense Large_intestine COSM1673340 TRRAP c.10900A>G p.T3634A Substitution - Missense Large_intestine COSM1726038 KMT2C c.8077G>A p.D2693N Substitution - Missense Liver COSM4425419 PYGO1 c.1177G>C p.D393H Substitution - Missense Oesophagus COSM1583106 DNMT3A c.2309C>A p.S770* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM146934 ERCC6 c.2751C>T p.G917G Substitution - coding silent Soft_tissue COSM405147 L3MBTL4 c.700delG p.D234fs*24 Deletion - Frameshift Lung COSM337374 TDRD3 c.1299A>C p.V433V Substitution - coding silent Lung COSM4990124 KMT2A c.3923A>G p.Q1308R Substitution - Missense Skin COSM4581745 NCOA6 c.2643G>A p.T881T Substitution - coding silent Bone COSM4701398 MECOM c.14A>T p.D5V Substitution - Missense Large_intestine COSM3883732 TRRAP c.4958G>T p.W1653L Substitution - Missense Stomach COSM5952854 MBD5 c.3190G>C p.D1064H Substitution - Missense Oesophagus COSM4096162 SMYD1 c.314+1G>C p.? Unknown Stomach COSM3991335 MSH6 c.2003C>G p.S668C Substitution - Missense Kidney COSM5611443 BAP1 c.634G>T p.E212* Substitution - Nonsense Pleura COSM3472825 PRDM2 c.2864C>T p.S955F Substitution - Missense Skin COSM5814345 ARID1B c.4231A>T p.R1411W Substitution - Missense Liver COSM5879009 TET2 c.3409+1G>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1602235 PHC2 c.1759-7C>G p.? Unknown Liver COSM683953 PWWP2B c.188A>G p.N63S Substitution - Missense Lung COSM740283 ARID1B c.4193G>T p.R1398L Substitution - Missense Lung COSM4728615 SMYD4 c.585A>G p.K195K Substitution - coding silent Large_intestine COSM1183571 ARID2 c.1463A>G p.Q488R Substitution - Missense Large_intestine COSM720761 DNMT3A c.2375G>A p.R792H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4705968 NCOA5 c.395G>A p.R132Q Substitution - Missense Large_intestine COSM2195870 BAZ1A c.4016G>A p.S1339N Substitution - Missense Upper_aerodigestive_tract COSM4507545 ZBTB33 c.749C>T p.P250L Substitution - Missense Skin COSM284220 PRDM15 c.1323C>T p.F441F Substitution - coding silent Stomach COSM4028655 LBR c.1101T>C p.D367D Substitution - coding silent Stomach COSM1114785 SMARCA1 c.2147G>T p.R716I Substitution - Missense Endometrium COSM1122178 HDAC6 c.98G>A p.R33Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4073749 DNMT1 c.2720T>C p.I907T Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM301189 L3MBTL4 c.321G>A p.A107A Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4496927 EP300 c.4860C>T p.P1620P Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5387931 AP001011.3_ENST00000320876 c.1256G>A p.G419E Substitution - Missense Skin COSM3726771 ARID1A c.2231C>G p.S744* Substitution - Nonsense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM228110 KMT2C c.1042G>A p.D348N Substitution - Missense Soft_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4469008 DHX30 c.1576C>T p.P526S Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4952633 BPTF c.2009C>T p.A670V Substitution - Missense Liver COSM6004868 BRD1 c.1602C>T p.R534R Substitution - coding silent Prostate COSM3402358 CHD9 c.5515A>G p.T1839A Substitution - Missense Central_nervous_system COSM1336716 TDRD5 c.1901delT p.L636fs*16 Deletion - Frameshift Large_intestine COSM1729665 BRWD3 c.658G>C p.G220R Substitution - Missense Liver COSM4702426 KMT2D c.11708C>T p.P3903L Substitution - Missense Skin COSM1387284 BAHCC1 c.2656_2657insC p.H888fs*192 Insertion - Frameshift Large_intestine COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Bone COSM4157418 MECOM c.744T>G p.G248G Substitution - coding silent Thyroid COSM4403589 CHD8 c.2437G>A p.E813K Substitution - Missense Skin COSM5744103 PHF21B c.152C>T p.T51M Substitution - Missense Small_intestine COSM230842 RERE c.4087C>T p.P1363S Substitution - Missense Skin COSM5705855 BAHD1 c.491G>A p.W164* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3458555 ATF7IP c.3760C>T p.P1254S Substitution - Missense Skin COSM1755550 ATAD2 c.3134C>T p.T1045I Substitution - Missense Urinary_tract COSM745865 KMT2C c.5371C>T p.Q1791* Substitution - Nonsense Thyroid COSM28349 INO80B c.1029G>T p.T343T Substitution - coding silent Pancreas COSM1749384 CHD2 c.839C>T p.S280F Substitution - Missense Urinary_tract COSM3160334 PHF3 c.5342C>A p.T1781N Substitution - Missense Large_intestine COSM24595 SMARCB1 c.157C>T p.R53* Substitution - Nonsense Central_nervous_system COSM4524430 HDAC10 c.1270G>A p.V424I Substitution - Missense Skin COSM1318929 DNMT3A c.1843C>T p.Q615* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1478811 SETD1A c.1246G>A p.E416K Substitution - Missense Breast COSM284975 SHPRH c.352G>T p.E118* Substitution - Nonsense Large_intestine COSM220386 EZH2 c.2045C>G p.A682G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5921398 CARM1 c.640G>A p.E214K Substitution - Missense Skin COSM2153280 ZMYM3 c.1409T>C p.L470P Substitution - Missense Central_nervous_system COSM3959096 SMCHD1 c.1161A>C p.L387F Substitution - Missense Lung COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM21711 CREBBP c.248A>C p.N83T Substitution - Missense Lung COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM52980 EZH2 c.2069G>A p.R690H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM78139 MYST3 c.2019A>C p.E673D Substitution - Missense Ovary COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Central_nervous_system COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Central_nervous_system COSM216208 KDM6A c.3940G>T p.G1314* Substitution - Nonsense Central_nervous_system COSM216431 SETBP1 c.147G>A p.P49P Substitution - coding silent Pancreas COSM255469 KDM3A c.2012A>G p.N671S Substitution - Missense Central_nervous_system COSM273615 SP140_ENST00000392045 c.2345T>G p.I782S Substitution - Missense Large_intestine COSM298325 ARID1A c.3978_3980delGCA p.Q1334delQ Deletion - In frame Upper_aerodigestive_tract COSM302349 HCFC1 c.660C>T p.P220P Substitution - coding silent Skin COSM311726 HDAC6 c.2409A>C p.P803P Substitution - coding silent Urinary_tract COSM305460 TCF20 c.1300_1301GG>CT p.G434>? Complex Soft_tissue COSM318347 CREBBP c.4232G>T p.G1411V Substitution - Missense Soft_tissue COSM386383 RAG2 c.1547C>G p.P516R Substitution - Missense Lung COSM384536 KIAA2026_ENST00000399933 c.6078T>G p.S2026R Substitution - Missense Lung COSM415976 SETD8 c.217G>A p.E73K Substitution - Missense Urinary_tract COSM435159 MYST1 c.254G>A p.G85D Substitution - Missense Breast COSM479508 ZBTB38 c.555G>T p.L185F Substitution - Missense Kidney COSM479002 L3MBTL2 c.138C>A p.S46S Substitution - coding silent Kidney COSM984761 JMJD6 c.224C>T p.A75V Substitution - Missense Endometrium COSM937159 EP400 c.3639G>A p.S1213S Substitution - coding silent Endometrium COSM1651164 SETDB1 c.1483C>T p.R495* Substitution - Nonsense Endometrium COSM1071562 PRDM13 c.179C>T p.S60L Substitution - Missense Endometrium COSM1034763 TCF20 c.3426T>C p.G1142G Substitution - coding silent Endometrium COSM1055647 GABRG1 c.397C>A p.L133I Substitution - Missense Endometrium COSM1075259 JARID2 c.3006G>A p.Q1002Q Substitution - coding silent Endometrium COSM1061365 KDM3B c.4483C>T p.R1495* Substitution - Nonsense Endometrium COSM971430 CHD9 c.5547T>C p.V1849V Substitution - coding silent Endometrium COSM1122153 SUV39H1 c.706G>A p.V236M Substitution - Missense Endometrium COSM1125408 ATRX c.6077T>C p.I2026T Substitution - Missense Endometrium COSM1108244 TAF1L c.1823T>C p.I608T Substitution - Missense Endometrium COSM1183578 ARID4A c.1583A>C p.K528T Substitution - Missense Large_intestine COSM1214798 MEAF6 c.542G>A p.G181D Substitution - Missense Large_intestine COSM1190844 SUV420H1 c.2091_2093delGAG p.R699delR Deletion - In frame Lung COSM1307640 ZGPAT c.327G>A p.A109A Substitution - coding silent Urinary_tract COSM1387272 KDM6B c.4669G>A p.A1557T Substitution - Missense Large_intestine COSM1420706 TBL1XR1 c.377delA p.N126fs*16 Deletion - Frameshift Pancreas COSM1446613 ACTL6B c.219C>T p.H73H Substitution - coding silent Large_intestine COSM1363350 MBD6 c.2338delG p.G782fs*13 Deletion - Frameshift Stomach COSM1341432 ARID1A c.6473G>A p.R2158Q Substitution - Missense Stomach COSM1490667 HCFC1 c.1666G>C p.V556L Substitution - Missense Breast COSM1489362 CHD7 c.7731G>C p.G2577G Substitution - coding silent Breast COSM1614215 IDH1 c.765G>T p.V255V Substitution - coding silent Liver COSM1625035 KIAA2026_ENST00000399933 c.3141G>A p.P1047P Substitution - coding silent Liver COSM1583074 DNMT3A c.1665C>A p.C555* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1635076 ING3 c.557-2A>T p.? Unknown Liver COSM1637191 DMAP1 c.1066C>A p.P356T Substitution - Missense Bone COSM1675371 KAT6B c.5966T>C p.L1989P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716934 ATRX c.6630T>G p.F2210L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1664454 TAF1 c.2324A>T p.E775V Substitution - Missense Kidney COSM1734466 EP300 c.743A>C p.N248T Substitution - Missense Pancreas COSM1739354 MLL5 c.2423C>A p.T808N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2155611 CHD6 c.5495G>A p.C1832Y Substitution - Missense Central_nervous_system COSM2797894 BPTF c.8174A>G p.K2725R Substitution - Missense Oesophagus COSM2879284 MBD1 c.147G>T p.L49L Substitution - coding silent Large_intestine COSM2965428 KDM6A c.2894A>C p.N965T Substitution - Missense Large_intestine COSM3160338 PHF3 c.5642C>T p.P1881L Substitution - Missense Large_intestine COSM3253756 BAG6 c.594G>A p.P198P Substitution - coding silent Stomach COSM3296117 MBD5 c.1120G>A p.V374I Substitution - Missense Upper_aerodigestive_tract COSM3359193 PHF21A c.1785G>T p.G595G Substitution - coding silent Kidney COSM3388557 CARM1 c.216C>G p.Y72* Substitution - Nonsense Pancreas COSM3425269 EPC2 c.263G>A p.R88H Substitution - Missense Large_intestine COSM3460971 ARID2 c.2881C>T p.Q961* Substitution - Nonsense Skin COSM3473533 SETDB1 c.1906C>T p.R636W Substitution - Missense Stomach COSM3461511 KMT2D c.13930C>T p.P4644S Substitution - Missense Skin COSM3458280 EP400 c.9329C>T p.P3110L Substitution - Missense Skin COSM3600236 PHF17 c.1176C>T p.S392S Substitution - coding silent Skin COSM3662942 TRIM24 c.1995G>A p.V665V Substitution - coding silent Liver COSM3660880 PHF17 c.516G>A p.E172E Substitution - coding silent Liver COSM3668120 SMCHD1 c.2077A>G p.I693V Substitution - Missense Liver COSM3712467 KDM6B c.3276G>T p.L1092L Substitution - coding silent Upper_aerodigestive_tract COSM3711694 MGA c.1110G>T p.P370P Substitution - coding silent Upper_aerodigestive_tract COSM3740094 NCOA6 c.2179C>T p.Q727* Substitution - Nonsense Liver COSM3761990 RING1 c.1029C>T p.D343D Substitution - coding silent Large_intestine COSM3777800 PHF3 c.321G>C p.L107L Substitution - coding silent Urinary_tract COSM3778561 BAZ1B c.2769C>T p.F923F Substitution - coding silent Urinary_tract COSM3780673 GTF3C4 c.2354A>G p.Y785C Substitution - Missense Pancreas COSM3812155 KMT2D c.13803C>G p.S4601R Substitution - Missense Breast COSM3793163 MPHOSPH8 c.427G>C p.E143Q Substitution - Missense Urinary_tract COSM3937120 CTCF c.1332A>T p.T444T Substitution - coding silent Oesophagus COSM3833996 ATAD2 c.2388G>A p.L796L Substitution - coding silent Breast COSM3820877 CHD3 c.4167G>A p.R1389R Substitution - coding silent Breast COSM3923917 BAZ1B c.4054C>T p.L1352F Substitution - Missense Skin COSM4031019 ARID1A c.4632G>A p.S1544S Substitution - coding silent Stomach COSM3998705 EP400 c.4499A>C p.H1500P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3996065 MYST3 c.3198G>T p.E1066D Substitution - Missense Kidney COSM4077878 SIRT2 c.607G>A p.E203K Substitution - Missense Stomach COSM4059619 JMJD5 c.1086G>T p.Q362H Substitution - Missense Stomach COSM4156642 FMR1 c.357A>C p.K119N Substitution - Missense Upper_aerodigestive_tract COSM4160862 EHMT2 c.1352G>T p.S451I Substitution - Missense Thyroid COSM4163146 TDRD7 c.266G>C p.R89P Substitution - Missense Thyroid COSM4384062 NSD1 c.2068G>A p.A690T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384342 KMT2C c.3977T>G p.L1326* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4395623 BAZ2B c.2514C>T p.I838I Substitution - coding silent Skin COSM4409107 KMT2D c.2332G>A p.V778I Substitution - Missense Oesophagus COSM4605782 EP300 c.6820C>T p.Q2274* Substitution - Nonsense Upper_aerodigestive_tract COSM4574170 PRDM10 c.1337C>T p.A446V Substitution - Missense Bone COSM4431920 SRCAP c.8749C>T p.Q2917* Substitution - Nonsense Oesophagus COSM4589298 MECP2 c.688C>T p.P230S Substitution - Missense Bone COSM4437378 EYA1 c.1090G>T p.E364* Substitution - Nonsense Oesophagus COSM4431047 KMT2D c.5154C>T p.T1718T Substitution - coding silent Oesophagus COSM4451696 STK31 c.135A>G p.V45V Substitution - coding silent Skin COSM4742147 ZBTB38 c.2844G>A p.P948P Substitution - coding silent Large_intestine COSM4677369 DHX30 c.519T>A p.I173I Substitution - coding silent Large_intestine COSM4702432 KMT2D c.6669delG p.F2224fs*49 Deletion - Frameshift Large_intestine COSM4614322 SUV420H2 c.117_118insC p.L42fs*92 Insertion - Frameshift Large_intestine COSM4619629 CHD7 c.5441C>T p.A1814V Substitution - Missense Large_intestine COSM4746443 BRD9 c.38delT p.F13fs*47 Deletion - Frameshift Large_intestine COSM4749355 CHD4 c.5234G>T p.G1745V Substitution - Missense Stomach COSM4803887 BRD7 c.106G>T p.E36* Substitution - Nonsense Liver COSM4921068 DOT1L c.2469G>T p.M823I Substitution - Missense Liver COSM4912835 YEATS4 c.22T>C p.F8L Substitution - Missense Liver COSM4925397 NCOA3 c.3877G>T p.D1293Y Substitution - Missense Liver COSM4990254 KMT2D c.6624C>A p.A2208A Substitution - coding silent Skin COSM5034041 ZMYND11 c.125A>T p.Q42L Substitution - Missense Skin COSM5010049 KMT2C c.7236C>T p.P2412P Substitution - coding silent Large_intestine COSM5351657 BRWD3 c.1278G>A p.V426V Substitution - coding silent Lung COSM5392066 CHD6 c.619G>A p.V207M Substitution - Missense Skin COSM5370576 EPC1 c.12G>A p.L4L Substitution - coding silent Skin COSM5413026 ZMYM3 c.1754G>A p.G585E Substitution - Missense Skin COSM5371769 KMT2A c.3081A>G p.L1027L Substitution - coding silent Skin COSM5405448 TDRD6 c.292C>T p.L98L Substitution - coding silent Skin COSM5490707 ARID1A c.3000_3001insT p.S1001fs*6 Insertion - Frameshift Biliary_tract COSM5504509 GATAD2A c.624G>A p.A208A Substitution - coding silent Biliary_tract COSM5461498 AIRE c.1095+6G>A p.? Unknown Large_intestine COSM5484946 TRRAP c.5523C>T p.R1841R Substitution - coding silent Large_intestine COSM5575677 KMT2D c.14615G>A p.C4872Y Substitution - Missense Stomach COSM5642975 BMI1 c.586G>T p.E196* Substitution - Nonsense Oesophagus COSM5720880 HDAC9 c.500G>A p.G167E Substitution - Missense Skin COSM5734126 MBD5 c.1468C>T p.P490S Substitution - Missense Pancreas COSM5734679 MBD5 c.3608C>A p.P1203H Substitution - Missense Pancreas COSM5590844 EYA4 c.12C>T p.S4S Substitution - coding silent Skin COSM5583461 DOT1L c.365C>T p.P122L Substitution - Missense Skin COSM5579707 TET2 c.2804G>A p.G935E Substitution - Missense Skin COSM5594016 ZBTB38 c.1050C>T p.A350A Substitution - coding silent Skin COSM5674586 PHF14 c.734G>C p.G245A Substitution - Missense Soft_tissue COSM5762852 CREBBP c.6980C>T p.A2327V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5763298 ZMYM4 c.1097C>T p.S366F Substitution - Missense Large_intestine COSM5776984 KDM3B c.3552T>G p.T1184T Substitution - coding silent Breast COSM5775121 NCOA6 c.5968G>A p.E1990K Substitution - Missense Breast COSM5779578 CBX4 c.704C>T p.P235L Substitution - Missense Breast COSM5914196 SIRT2 c.825-8C>T p.? Unknown Skin COSM5940234 BAZ2A_ENST00000379441 c.5686G>A p.E1896K Substitution - Missense Skin COSM5901410 BRPF3 c.1118C>T p.T373I Substitution - Missense Skin COSM5910677 BMI1 c.304C>T p.P102S Substitution - Missense Skin COSM5954891 CHD2 c.1248A>G p.K416K Substitution - coding silent Upper_aerodigestive_tract COSM5976889 CHD7 c.549T>C p.P183P Substitution - coding silent Upper_aerodigestive_tract COSM6013176 CHD7 c.2810C>T p.S937F Substitution - Missense Skin COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Bone COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM1169633 PBRM1 c.? p.? Unknown Kidney COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43409 TET2 c.? p.?fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM5945726 ATRX c.? p.D1051E Substitution - Missense Central_nervous_system COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM479984 KAT2B c.991A>G p.K331E Substitution - Missense Kidney COSM1095767 ATAD2 c.1210C>T p.R404* Substitution - Nonsense Endometrium COSM5015854 ARID1A c.4237_4240delGCCA p.Q1415fs*65 Deletion - Frameshift Kidney COSM266403 DNMT1 c.1294G>A p.E432K Substitution - Missense Large_intestine COSM3841547 ZGPAT c.1310C>T p.A437V Substitution - Missense Breast COSM1216520 MYST1 c.407G>A p.R136H Substitution - Missense Large_intestine COSM1211712 KDM2B c.1903C>T p.R635C Substitution - Missense Skin COSM36248 IDH1 c.? p.R132? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM353507 KMT2C c.7152G>A p.R2384R Substitution - coding silent Lung COSM5492010 HDGFL1 c.5C>T p.S2L Substitution - Missense Biliary_tract COSM4495628 EPC2 c.457C>T p.Q153* Substitution - Nonsense Skin COSM2059735 RNF134 c.558-3C>T p.? Unknown Skin COSM4752988 ACTR5 c.1150G>T p.V384L Substitution - Missense Stomach COSM5722439 SETD1A c.1109A>T p.Y370F Substitution - Missense Skin COSM4611384 HNF1A c.864_865insC p.G292fs*25 Insertion - Frameshift Stomach COSM223510 KDM5A c.4148C>T p.S1383F Substitution - Missense Skin COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Upper_aerodigestive_tract COSM5878843 DNMT3A c.1300G>T p.E434* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM461866 JARID2 c.1509G>A p.T503T Substitution - coding silent Cervix COSM3457174 KDM2B c.1877C>T p.P626L Substitution - Missense Skin COSM5377616 TDRKH c.1205T>C p.L402P Substitution - Missense Skin COSM4153298 DAXX c.603G>A p.E201E Substitution - coding silent Ovary COSM4433506 MYST3 c.4324G>T p.A1442S Substitution - Missense Oesophagus COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Soft_tissue COSM5363368 SRCAP c.3889C>A p.Q1297K Substitution - Missense Large_intestine COSM5390666 TFPT c.481C>T p.P161S Substitution - Missense Skin COSM1087511 KMT2C c.14078G>A p.R4693Q Substitution - Missense Large_intestine COSM1610147 PCGF2 c.355G>C p.E119Q Substitution - Missense Liver COSM5692637 L3MBTL4 c.1089G>T p.V363V Substitution - coding silent Soft_tissue COSM1387381 CHD3 c.5591T>C p.V1864A Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM1494192 GATAD2A c.622G>A p.A208T Substitution - Missense Kidney COSM3798863 NCOA1 c.2949C>G p.I983M Substitution - Missense Urinary_tract COSM5095311 ING2 c.833G>A p.R278K Substitution - Missense Thymus COSM4104441 EP300 c.6616G>T p.A2206S Substitution - Missense Stomach COSM4837687 ASXL1 c.980-1G>T p.? Unknown Cervix COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM255037 ZMYND8 c.469G>C p.E157Q Substitution - Missense Urinary_tract COSM4671995 CHD4 c.3992G>A p.R1331Q Substitution - Missense Large_intestine COSM1682290 EP300 c.5346C>A p.C1782* Substitution - Nonsense Ovary COSM1088632 STK31 c.1322G>T p.R441I Substitution - Missense Endometrium COSM3388270 CHD3 c.559A>T p.T187S Substitution - Missense Pancreas COSM1399854 EPC2 c.200delA p.E70fs*39 Deletion - Frameshift Large_intestine COSM5009476 TRRAP c.8896G>A p.D2966N Substitution - Missense Large_intestine COSM24931 HNF1A c.620G>A p.G207D Substitution - Missense Liver COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM1103002 TDRD7 c.715A>C p.N239H Substitution - Missense Endometrium COSM4285824 KDM4B c.2164C>T p.Q722* Substitution - Nonsense Oesophagus COSM5374393 HNF1A c.742C>T p.P248S Substitution - Missense Skin COSM4596684 KDM2B c.1696C>T p.P566S Substitution - Missense Upper_aerodigestive_tract COSM225242 PRDM1 c.247G>A p.E83K Substitution - Missense Skin COSM5413122 ATRX c.4987C>T p.Q1663* Substitution - Nonsense Skin COSM4386688 SMARCA4 c.? p.R849W Substitution - Missense Large_intestine COSM43417 TET2 c.2746C>T p.Q916* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5009538 KMT2C c.13639A>G p.T4547A Substitution - Missense Large_intestine COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM255980 TDRD6 c.1028T>C p.V343A Substitution - Missense Central_nervous_system COSM5177205 SMARCA1 c.1127delA p.N376fs*16 Deletion - Frameshift Large_intestine COSM4425780 EYA4 c.298A>C p.T100P Substitution - Missense Oesophagus COSM1602395 SCMH1 c.65C>A p.P22H Substitution - Missense Liver COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1583129 DNMT3A c.2645G>T p.R882L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM903690 SMYD2 c.493G>A p.G165R Substitution - Missense Endometrium COSM895801 POGZ c.4185G>T p.E1395D Substitution - Missense Endometrium COSM5372887 GLYATL1 c.383G>A p.W128* Substitution - Nonsense Skin COSM1067651 NIPBL c.1123G>A p.D375N Substitution - Missense Endometrium COSM1363125 BAZ2A_ENST00000379441 c.3951T>C p.P1317P Substitution - coding silent Large_intestine COSM1363345 MBD6 c.2074delC p.Q694fs*5 Deletion - Frameshift Large_intestine COSM350030 ARID1A c.5542G>T p.G1848W Substitution - Missense Lung COSM3974195 ZBTB38 c.2716G>A p.A906T Substitution - Missense Central_nervous_system COSM5968803 SETDB1 c.1512C>T p.S504S Substitution - coding silent Upper_aerodigestive_tract COSM350882 DHX30 c.3155C>G p.S1052* Substitution - Nonsense Lung COSM3370076 ALKBH1 c.587T>C p.L196P Substitution - Missense Thyroid COSM3996373 PRDM12 c.793C>T p.H265Y Substitution - Missense Kidney COSM5879661 ASXL1 c.2083_2084insA p.L696fs*22 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1471127 AP001011.3_ENST00000320876 c.4428T>G p.S1476R Substitution - Missense Prostate COSM4016609 BTAF1 c.5032G>A p.D1678N Substitution - Missense Stomach COSM5428769 PRDM2 c.2705C>T p.P902L Substitution - Missense Oesophagus COSM984422 ZBTB4 c.1534G>A p.A512T Substitution - Missense Endometrium COSM923574 KMT2A c.3309G>T p.K1103N Substitution - Missense Endometrium COSM5648594 NCOR1 c.829G>C p.E277Q Substitution - Missense Oesophagus COSM4988534 ARID1A c.358C>T p.P120S Substitution - Missense Endometrium COSM4162024 KMT2C c.946A>T p.T316S Substitution - Missense Upper_aerodigestive_tract COSM1414087 BRWD1 c.4243_4244insA p.M1415fs*7 Insertion - Frameshift Large_intestine COSM3190644 HDAC5 c.91A>G p.T31A Substitution - Missense Large_intestine COSM1667915 SETDB1 c.796G>A p.A266T Substitution - Missense Large_intestine COSM5404522 SHPRH c.3371C>T p.A1124V Substitution - Missense Skin COSM1623076 BAZ1B c.3193A>G p.R1065G Substitution - Missense Liver COSM5079061 SETD5_ENST00000402198 c.3381_3382insA p.F1130fs*36 Insertion - Frameshift Large_intestine COSM4935360 BAZ2B c.1350C>G p.S450R Substitution - Missense Liver COSM1638654 KAT6B c.5856G>A p.M1952I Substitution - Missense Stomach COSM1492209 TDRD1 c.2147T>C p.V716A Substitution - Missense Kidney COSM4924872 EYA1 c.450T>A p.G150G Substitution - coding silent Liver COSM4390015 ATAD2 c.798T>A p.D266E Substitution - Missense Urinary_tract COSM4973251 NCOA2 c.864G>A p.M288I Substitution - Missense Oesophagus COSM3911512 ZMYND8 c.3527T>G p.L1176R Substitution - Missense Skin COSM4402423 TCF20 c.3608C>T p.P1203L Substitution - Missense Skin COSM392486 ATF7IP c.2802delC p.Q935fs*6 Deletion - Frameshift Lung COSM703467 CHD9 c.4688G>T p.G1563V Substitution - Missense Lung COSM4143401 LBR c.1551T>A p.D517E Substitution - Missense Thyroid COSM222135 TRRAP c.11153C>T p.P3718L Substitution - Missense Skin COSM347699 MPHOSPH8 c.890G>C p.R297T Substitution - Missense Lung COSM5606302 ACTB c.826G>A p.E276K Substitution - Missense Skin COSM357078 KMT2C c.2297C>A p.T766K Substitution - Missense Lung COSM1293027 SMC1A c.2750C>A p.T917N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5718730 RTF1 c.256C>T p.R86C Substitution - Missense Skin COSM1289257 ARID1A c.1226C>A p.S409* Substitution - Nonsense Oesophagus COSM1161914 KDM5C c.4213G>C p.E1405Q Substitution - Missense Kidney COSM1360190 EP400 c.8374delC p.P2793fs*46 Deletion - Frameshift Large_intestine COSM3947826 CHD1 c.3099G>T p.E1033D Substitution - Missense Lung COSM5427676 TDRD5 c.1630C>T p.R544W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4481469 ATF7IP c.2510C>T p.S837F Substitution - Missense Skin COSM1642724 PRDM9 c.1713G>A p.Q571Q Substitution - coding silent Stomach COSM33731 IDH2 c.514A>G p.R172G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3398222 KDM4D c.569C>T p.A190V Substitution - Missense Central_nervous_system COSM51492 ARID1A c.5899_5900insTG p.T1969fs*47 Insertion - Frameshift Ovary COSM5734656 CBX7 c.334G>A p.G112R Substitution - Missense Pancreas COSM392741 GTF3C1 c.2672delC p.P891fs*44 Deletion - Frameshift Lung COSM1362057 KMT2D c.2885delG p.G962fs*95 Deletion - Frameshift Large_intestine COSM5641654 MBD5 c.46C>G p.L16V Substitution - Missense Oesophagus COSM4119068 BAP1 c.10G>T p.G4C Substitution - Missense Stomach COSM1308230 TCF20 c.720C>T p.S240S Substitution - coding silent Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1342129 ZMYM4 c.1783T>G p.S595A Substitution - Missense Large_intestine COSM3763834 EHMT1 c.996T>C p.G332G Substitution - coding silent Large_intestine COSM1159110 ARID1A c.2466_2467insT p.Y823fs*49 Insertion - Frameshift Pancreas COSM3857074 PRDM13 c.514C>T p.H172Y Substitution - Missense Stomach COSM3650077 CHD7 c.4070C>T p.S1357F Substitution - Missense Skin COSM5121139 MPHOSPH8 c.1791+967_1823del1474 p.? Unknown Large_intestine COSM5427002 GABRG1 c.757A>C p.I253L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1226917 SMYD3 c.908T>C p.F303S Substitution - Missense Large_intestine COSM51200 ASXL1 c.1888_1910del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3677643 ARID1A c.1516T>C p.S506P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4671983 CHD3 c.4244G>A p.R1415H Substitution - Missense Large_intestine COSM5884224 NIPBL c.4495C>T p.Q1499* Substitution - Nonsense Breast COSM4046313 MPHOSPH8 c.1915A>G p.I639V Substitution - Missense Stomach COSM4467868 KMT2D c.14316C>T p.A4772A Substitution - coding silent Skin COSM1132744 MYST3 c.2344T>G p.S782A Substitution - Missense Prostate COSM1019156 NCOA1 c.2692G>A p.A898T Substitution - Missense Endometrium COSM51200 ASXL1 c.1888_1910del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM931223 SUV420H1 c.173C>T p.S58L Substitution - Missense Endometrium COSM13854 CHD1 c.5038G>T p.D1680Y Substitution - Missense Lung COSM5648117 ATRX c.5461A>T p.T1821S Substitution - Missense Oesophagus COSM3891219 L3MBTL4 c.1837G>A p.E613K Substitution - Missense Skin COSM5713899 ACTB c.124-4C>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3967515 PHF21A c.1351A>G p.S451G Substitution - Missense Central_nervous_system COSM1159611 KDM4C c.2025C>T p.V675V Substitution - coding silent Pancreas COSM2153202 AKAP1 c.2068T>A p.S690T Substitution - Missense Central_nervous_system COSM2006934 KMT2D c.9440C>T p.A3147V Substitution - Missense Large_intestine COSM1158432 TAF1 c.1363_1364insC p.A456fs*4 Insertion - Frameshift Pancreas COSM1692150 SP100 c.1241C>T p.A414V Substitution - Missense Skin COSM1287103 PHC3 c.2601C>T p.S867S Substitution - coding silent Autonomic_ganglia COSM49149 EZH2 c.745G>A p.E249K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM473489 CHD3 c.2056C>A p.L686I Substitution - Missense Kidney COSM450777 JARID2 c.1100C>G p.P367R Substitution - Missense Breast COSM4160310 JARID2 c.1426G>T p.A476S Substitution - Missense Thyroid COSM5906269 TTF2 c.1124C>T p.T375I Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1365143 ACTR6 c.936delT p.F314fs*6 Deletion - Frameshift Large_intestine COSM4616534 NCOA6 c.4794T>C p.T1598T Substitution - coding silent Large_intestine COSM1609407 CHD9 c.1231C>T p.Q411* Substitution - Nonsense Liver COSM4456590 SIRT3 c.1015C>T p.P339S Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5671011 PRDM4 c.293C>G p.P98R Substitution - Missense Soft_tissue COSM5885778 ARID1A c.3001_3002insC p.T1002fs*5 Insertion - Frameshift Urinary_tract COSM221146 KMT2D c.10881_10882insT p.Q3628fs*114 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1235473 TET2 c.3609C>G p.S1203R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4591901 NCOR1 c.618+6T>A p.? Unknown Upper_aerodigestive_tract COSM5364689 SMARCA4 c.995delC p.Q335fs*76 Deletion - Frameshift Large_intestine COSM41733 TET2 c.3500G>C p.R1167T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM150424 KMT2C c.5068A>C p.R1690R Substitution - coding silent Stomach COSM3529613 BRD4 c.675C>T p.F225F Substitution - coding silent Skin COSM3772194 SRCAP c.5315C>T p.P1772L Substitution - Missense Pancreas COSM4949469 ARID2 c.3277C>T p.P1093S Substitution - Missense Skin COSM5636804 PHF21A c.1417C>G p.L473V Substitution - Missense Oesophagus COSM4097806 NCOA6 c.3247C>T p.Q1083* Substitution - Nonsense Skin COSM5756292 DHX30 c.2590C>T p.R864W Substitution - Missense Large_intestine COSM4665216 BAZ2A c.5685G>A p.A1895A Substitution - coding silent Large_intestine COSM4410724 TAF1L c.361C>T p.Q121* Substitution - Nonsense Kidney COSM211629 TET2 c.5219T>A p.L1740* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3879598 KMT2C c.2597G>A p.R866Q Substitution - Missense Stomach COSM935907 SIRT4 c.905C>A p.S302Y Substitution - Missense Endometrium COSM1480506 DNMT1 c.2575G>A p.D859N Substitution - Missense Breast COSM2067865 ARID2 c.4384C>T p.Q1462* Substitution - Nonsense Oesophagus COSM5770203 EHMT2 c.1749C>A p.A583A Substitution - coding silent Breast COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Bone COSM96358 BAP1 c.2050C>T p.Q684* Substitution - Nonsense Pleura COSM731854 ACTR8 c.996C>G p.C332W Substitution - Missense Lung COSM1180185 TDRD1 c.94G>A p.E32K Substitution - Missense Prostate COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM166851 TIF1 c.2626C>T p.R876C Substitution - Missense Pancreas COSM1469606 BRWD3 c.713C>T p.A238V Substitution - Missense Large_intestine COSM971996 SETD6 c.987C>A p.A329A Substitution - coding silent Endometrium COSM350094 PHF13 c.593G>T p.R198L Substitution - Missense Lung COSM4514623 KMT2A c.981C>T p.P327P Substitution - coding silent Skin COSM756947 KDM5C c.503A>T p.Q168L Substitution - Missense Lung COSM1737889 TET2 c.3275_3275delC p.P1092fs*14 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3973936 ATRX c.1226T>A p.L409* Substitution - Nonsense Central_nervous_system COSM3783621 TAF1 c.3097T>C p.S1033P Substitution - Missense Prostate COSM5562300 KDM6B c.1126C>G p.P376A Substitution - Missense Prostate COSM4430281 KDM5A c.672+3A>G p.? Unknown Oesophagus COSM5945110 EZH2 c.1942G>A p.G648R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5019889 SETBP1 c.3388C>A p.P1130T Substitution - Missense Soft_tissue COSM221505 CREBBP c.3310C>T p.Q1104* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5954383 ZCWPW1 c.1505G>A p.R502Q Substitution - Missense Upper_aerodigestive_tract COSM1368987 CHD8 c.4474C>T p.L1492L Substitution - coding silent Large_intestine COSM5501071 PBRM1 c.1247_1248insA p.Y417fs*3 Insertion - Frameshift Biliary_tract COSM1108249 TAF1L c.993G>A p.T331T Substitution - coding silent Endometrium COSM5945660 TET2 c.3812_3813insGTCCC p.C1271fs*94 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1933683 CBX5 c.164A>C p.K55T Substitution - Missense Large_intestine COSM4654865 MECOM c.1806G>A p.E602E Substitution - coding silent Large_intestine COSM120499 DNMT3A c.2638A>G p.M880V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM137623 SETD3 c.295G>C p.V99L Substitution - Missense Skin COSM3368901 MBD6 c.733C>T p.P245S Substitution - Missense Thyroid COSM1303705 ASXL3 c.2825C>T p.S942F Substitution - Missense Urinary_tract COSM4789776 HDAC11 c.443G>T p.R148L Substitution - Missense Liver COSM1079906 TDRD6 c.4150T>C p.S1384P Substitution - Missense Endometrium COSM4456419 KMT2A c.10088C>T p.T3363I Substitution - Missense Skin COSM5476224 PRDM15 c.2867C>T p.A956V Substitution - Missense Large_intestine COSM1075358 ARID1B c.5178C>T p.D1726D Substitution - coding silent Endometrium COSM1411314 NCOA6 c.3513G>A p.S1171S Substitution - coding silent Large_intestine COSM5599468 EP400 c.5622G>A p.L1874L Substitution - coding silent Skin COSM3955429 MPHOSPH8 c.120A>G p.A40A Substitution - coding silent Lung COSM1723044 CBX4 c.1198_1200delCAC p.H400delH Deletion - In frame Upper_aerodigestive_tract COSM1263129 PRMT6 c.495C>A p.G165G Substitution - coding silent Oesophagus COSM2834908 CHD9 c.5779C>T p.R1927C Substitution - Missense Pancreas COSM4577914 ARID4A c.2204delA p.N736fs*9 Deletion - Frameshift Bone COSM3832348 KMT2C c.7143G>A p.L2381L Substitution - coding silent Breast COSM1127043 ARID1A c.6372A>G p.K2124K Substitution - coding silent Prostate COSM3665756 ERCC6 c.2327A>C p.Y776S Substitution - Missense Liver COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM381512 DNMT3L c.447_448CC>TA p.S149>? Complex Lung COSM3876908 MLL5 c.3765A>G p.S1255S Substitution - coding silent Stomach COSM5571830 EPC2 c.2231T>G p.V744G Substitution - Missense Prostate COSM1224335 RSF1 c.1786C>A p.L596I Substitution - Missense Large_intestine COSM5715233 KMT2D c.641G>A p.C214Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4526964 ZCWPW1 c.1430G>A p.R477H Substitution - Missense Skin COSM1730121 CHD9 c.7889G>A p.R2630K Substitution - Missense Liver COSM5418705 SETD2 c.5589+2T>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1211722 KDM3A c.1429T>G p.L477V Substitution - Missense Large_intestine COSM110818 BAP1 c.1_2190del2190 p.0? Whole gene deletion Pleura COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4717442 PRDM10 c.2566T>C p.F856L Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5986631 KDM6A c.3142_3143insCC p.R1048fs*36 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5785912 HDGFL1 c.157C>A p.P53T Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1183553 ARID1B c.803G>C p.G268A Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1367547 TDRD3 c.1456C>T p.R486* Substitution - Nonsense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM126645 DAXX c.2135C>G p.S712* Substitution - Nonsense Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM745476 TRIM24 c.1874C>T p.P625L Substitution - Missense Large_intestine COSM3718788 ATAD2 c.4090_4091insT p.Y1364fs*8 Insertion - Frameshift Upper_aerodigestive_tract COSM4041708 KDM5A c.3561C>T p.S1187S Substitution - coding silent Stomach COSM78778 WHSC1 c.3259G>C p.E1087Q Substitution - Missense Ovary COSM971077 GLYR1 c.1014G>T p.K338N Substitution - Missense Endometrium COSM302137 EP400 c.8181A>G p.Q2727Q Substitution - coding silent Thyroid COSM4107963 HCFC1 c.3920G>A p.G1307D Substitution - Missense Stomach COSM216206 KDM6A c.2777delC p.S926fs*11 Deletion - Frameshift Central_nervous_system COSM4505423 RTF1 c.317C>T p.A106V Substitution - Missense Skin COSM3697512 EYA4 c.167C>A p.S56Y Substitution - Missense Large_intestine COSM1228829 TDRD5 c.542C>T p.A181V Substitution - Missense Prostate COSM1618156 BRPF1 c.3026C>A p.S1009Y Substitution - Missense Liver COSM5902744 NSD1 c.2183T>G p.V728G Substitution - Missense Skin COSM4042383 KMT2D c.6014C>T p.P2005L Substitution - Missense Stomach COSM4031017 ARID1A c.4381C>T p.R1461* Substitution - Nonsense Endometrium COSM5666042 CLOCK c.563A>T p.K188I Substitution - Missense Soft_tissue COSM484582 MLL5 c.3595T>C p.C1199R Substitution - Missense Kidney COSM3384572 CHD4 c.2881G>A p.D961N Substitution - Missense Pancreas COSM915027 TDRD1 c.2803G>T p.E935* Substitution - Nonsense Endometrium COSM4790699 SMARCA5 c.2435C>T p.A812V Substitution - Missense Liver COSM3551833 PRMT2 c.239C>T p.P80L Substitution - Missense Skin COSM456030 KDM4C c.690A>T p.P230P Substitution - coding silent Breast COSM5618252 SHPRH c.3707G>A p.R1236Q Substitution - Missense Breast COSM4644238 KDM4B c.1130G>A p.R377Q Substitution - Missense Large_intestine COSM4776476 KAT6B c.5646C>A p.P1882P Substitution - coding silent Soft_tissue COSM3995647 ACTB c.1034T>C p.I345T Substitution - Missense Kidney COSM2983341 ZCWPW2 c.939A>G p.A313A Substitution - coding silent Large_intestine COSM1238226 ARID4A c.713C>T p.P238L Substitution - Missense Oesophagus COSM2952950 INTS12 c.41delT p.L14fs*1 Deletion - Frameshift Large_intestine COSM3757702 BAZ2B c.6071G>A p.S2024N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4435593 ZMYM3 c.772G>A p.E258K Substitution - Missense Oesophagus COSM1221880 PRDM15 c.1330T>A p.F444I Substitution - Missense Large_intestine COSM12928 TAF1 c.2073G>A p.M691I Substitution - Missense Lung COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Stomach COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43447 TET2 c.4589_4599del11 p.L1531fs*43 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85569 KMT2C c.10816_10826del11 p.R3606fs*5 Deletion - Frameshift Pancreas COSM94712 MLLT10 c.206G>A p.R69K Substitution - Missense Lung COSM110707 ASXL1 c.1762C>T p.Q588* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM112087 TDG c.286_287insA p.I98fs*6 Insertion - Frameshift Ovary COSM120171 TET2 c.2001_2001delT p.L668fs*32 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM133737 DNMT3A c.2207G>A p.R736H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM149376 SETD2 c.4376C>T p.P1459L Substitution - Missense Soft_tissue COSM41706 TET2 c.4354C>T p.R1452* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM180104 AICDA c.55C>T p.R19C Substitution - Missense Large_intestine COSM179064 CDYL c.1290C>T p.F430F Substitution - coding silent Large_intestine COSM248412 ZBTB4 c.1334C>A p.T445K Substitution - Missense Prostate COSM263091 PRDM9 c.1365G>T p.E455D Substitution - Missense Lung COSM297068 PHF2 c.2961C>A p.T987T Substitution - coding silent Lung COSM309267 ARID1B c.3285G>T p.L1095F Substitution - Missense Lung COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Upper_aerodigestive_tract COSM318353 EP300 c.3358G>T p.D1120Y Substitution - Missense Soft_tissue COSM307766 ASXL1 c.2242C>T p.Q748* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM325900 MYST3 c.1398T>A p.N466K Substitution - Missense Lung COSM344202 ING4 c.498-2A>T p.? Unknown Lung COSM380039 HDAC6 c.1527G>C p.R509R Substitution - coding silent Lung COSM1497327 ATRX c.7217A>T p.Q2406L Substitution - Missense Kidney COSM975864 NCOR1 c.5329G>T p.G1777* Substitution - Nonsense Endometrium COSM917775 EPC1 c.585A>G p.K195K Substitution - coding silent Endometrium COSM916613 SUV39H2 c.587G>A p.R196Q Substitution - Missense Endometrium COSM5702544 ARID1B c.3291+1G>A p.? Unknown Central_nervous_system COSM691522 TDG c.479-1G>T p.? Unknown Large_intestine COSM954001 MTA1 c.1000G>A p.D334N Substitution - Missense Endometrium COSM1023512 KDM3A c.3661C>T p.R1221C Substitution - Missense Endometrium COSM1025739 ASXL1 c.4411G>A p.V1471M Substitution - Missense Endometrium COSM1031243 AIRE c.709G>A p.E237K Substitution - Missense Liver COSM751047 CHD7 c.5773A>G p.K1925E Substitution - Missense Lung COSM750341 MYST3 c.2259C>T p.I753I Substitution - coding silent Lung COSM750342 MYST3 c.2629G>T p.E877* Substitution - Nonsense Lung COSM757221 PHF16 c.783A>T p.K261N Substitution - Missense Lung COSM699906 INOC1 c.3817G>A p.E1273K Substitution - Missense Cervix COSM732445 PRMT10 c.29G>T p.R10L Substitution - Missense Lung COSM907724 ARID1A c.4053_4068del16 p.P1353fs*123 Deletion - Frameshift Endometrium COSM907732 ARID1A c.4891C>T p.Q1631* Substitution - Nonsense Endometrium COSM896900 ASH1L c.8887C>T p.R2963* Substitution - Nonsense Endometrium COSM932196 RSF1 c.3156C>T p.I1052I Substitution - coding silent Endometrium COSM994277 LMNB2 c.242C>T p.A81V Substitution - Missense Endometrium COSM1008157 BAZ2B c.3269T>G p.F1090C Substitution - Missense Endometrium COSM1000723 EZH2 c.1876G>A p.V626M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1034200 CBX6 c.967G>T p.A323S Substitution - Missense Endometrium COSM1078046 PHF1 c.1649G>T p.R550L Substitution - Missense Endometrium COSM1061347 KDM3B c.3073C>T p.R1025C Substitution - Missense Endometrium COSM1107885 SMARCA2 c.4431C>T p.N1477N Substitution - coding silent Endometrium COSM1125838 BRWD3 c.3277G>T p.E1093* Substitution - Nonsense Endometrium COSM1194916 ARID1A c.1226C>T p.S409L Substitution - Missense Lung COSM1196579 CREBBP c.4416G>T p.W1472C Substitution - Missense Lung COSM1265384 SFMBT2 c.44C>T p.S15F Substitution - Missense Stomach COSM1180098 KMT2C c.1005T>A p.P335P Substitution - coding silent Soft_tissue COSM1186658 PHF17 c.496C>G p.L166V Substitution - Missense Lung COSM1378317 CHD9 c.3348G>T p.K1116N Substitution - Missense Large_intestine COSM1437264 NIPBL c.1802A>C p.K601T Substitution - Missense Large_intestine COSM1463726 PHF2 c.824C>T p.S275L Substitution - Missense Large_intestine COSM1445546 PHF3 c.474delA p.A161fs*13 Deletion - Frameshift Large_intestine COSM1363779 CHD4 c.218delA p.K73fs*129 Deletion - Frameshift Stomach COSM1361705 ARID2 c.5239G>T p.G1747* Substitution - Nonsense Large_intestine COSM1360175 EP400 c.4318C>T p.R1440C Substitution - Missense Large_intestine COSM1491743 SETDB1 c.945G>A p.R315R Substitution - coding silent Kidney COSM1635192 KMT2C c.11597delA p.K3866fs*23 Deletion - Frameshift Liver COSM1671595 NIPBL c.8119G>T p.V2707F Substitution - Missense Prostate COSM1674392 PSIP1 c.176T>G p.F59C Substitution - Missense Large_intestine COSM1717368 SETBP1 c.2601C>A p.S867R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1736631 SRCAP c.5102C>G p.S1701C Substitution - Missense Central_nervous_system COSM1966275 TAF3 c.2095A>G p.K699E Substitution - Missense Large_intestine COSM2105648 KMT2A c.11469delA p.K3825fs*31 Deletion - Frameshift Breast COSM2259829 BRDT c.245G>A p.R82H Substitution - Missense Large_intestine COSM3203721 MECOM c.443G>A p.R148Q Substitution - Missense Large_intestine COSM3378263 AKAP1 c.2453C>T p.P818L Substitution - Missense Pancreas COSM3376183 EP400 c.5065G>A p.G1689R Substitution - Missense Pancreas COSM3494290 MTA1 c.775C>T p.H259Y Substitution - Missense Skin COSM3501000 INOC1 c.4116C>T p.P1372P Substitution - coding silent Skin COSM3460974 ARID2 c.3121C>T p.Q1041* Substitution - Nonsense Skin COSM3469419 TDRD3 c.751A>T p.R251W Substitution - Missense Skin COSM3461591 KMT2D c.3474G>T p.E1158D Substitution - Missense Skin COSM3461595 KMT2D c.2897C>T p.S966F Substitution - Missense Skin COSM3519927 AKAP1 c.548C>T p.P183L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3526906 L3MBTL4 c.1641+2T>C p.? Unknown Skin COSM3523708 SIRT7 c.439C>T p.L147F Substitution - Missense Skin COSM3534381 SIRT6 c.79C>T p.P27S Substitution - Missense Skin COSM3688232 KMT2D c.9457C>A p.P3153T Substitution - Missense Large_intestine COSM3676436 PRMT8 c.1034A>C p.Y345S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3667104 HNF1A c.426C>T p.S142S Substitution - coding silent Liver COSM3717555 BPTF c.8022A>T p.T2674T Substitution - coding silent Liver COSM3722551 KMT2D c.6669G>T p.G2223G Substitution - coding silent Soft_tissue COSM3714178 NCOA1 c.1092C>A p.I364I Substitution - coding silent Upper_aerodigestive_tract COSM3715066 NIPBL c.4934A>G p.E1645G Substitution - Missense Upper_aerodigestive_tract COSM3758251 MSH6 c.186C>A p.R62R Substitution - coding silent Large_intestine COSM3747772 PHF2 c.2992A>C p.T998P Substitution - Missense Thyroid COSM3794134 INOC1 c.2806G>A p.E936K Substitution - Missense Urinary_tract COSM3853962 NSD1 c.4395T>C p.F1465F Substitution - coding silent Stomach COSM3828972 NCOA7 c.2402G>T p.G801V Substitution - Missense Breast COSM3912233 DNMT3L c.84C>T p.S28S Substitution - coding silent Breast COSM4022065 SETDB1 c.1694G>A p.R565H Substitution - Missense Stomach COSM3993385 TET2 c.946T>A p.F316I Substitution - Missense Kidney COSM4107275 FMR1 c.586T>G p.L196V Substitution - Missense Stomach COSM4101442 SETD4 c.684C>T p.L228L Substitution - coding silent Skin COSM4060208 SRCAP c.6531A>T p.L2177L Substitution - coding silent Stomach COSM4064171 NCOR1 c.1238G>A p.R413K Substitution - Missense Stomach COSM4129609 NCOR1 c.568C>T p.R190* Substitution - Nonsense Upper_aerodigestive_tract COSM4385097 ASXL1 c.2245delC p.L749fs*23 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4392165 SETD1A c.344G>A p.R115H Substitution - Missense Prostate COSM4551521 TDRD1 c.530G>A p.G177E Substitution - Missense Skin COSM4490542 KDM5C c.3657C>T p.L1219L Substitution - coding silent Skin COSM4575152 SETD8 c.779C>T p.A260V Substitution - Missense Bone COSM4488677 SRCAP c.3364C>T p.P1122S Substitution - Missense Skin COSM4491907 RSF1 c.3884C>T p.P1295L Substitution - Missense Skin COSM4590278 KDM2A c.310A>G p.S104G Substitution - Missense Soft_tissue COSM4482791 HDAC9 c.2640C>T p.G880G Substitution - coding silent Skin COSM4411402 BRPF3 c.2653A>G p.K885E Substitution - Missense Kidney COSM4685172 FMR1 c.1055delA p.K354fs*3 Deletion - Frameshift Large_intestine COSM4731009 SUV420H2 c.1135delC p.H381fs*47 Deletion - Frameshift Large_intestine COSM4742771 ZGPAT c.1402C>T p.R468* Substitution - Nonsense Large_intestine COSM4663289 ARID4A c.3434delC p.P1146fs*32 Deletion - Frameshift Large_intestine COSM4680480 EHMT1 c.553G>A p.A185T Substitution - Missense Large_intestine COSM4762633 KMT2C c.12673C>T p.R4225* Substitution - Nonsense Stomach COSM4770394 SMEK1 c.1538A>G p.H513R Substitution - Missense Adrenal_gland COSM4625510 DUSP1 c.419C>T p.S140L Substitution - Missense Large_intestine COSM4763652 TBL1XR1 c.1122G>T p.K374N Substitution - Missense Stomach COSM4606467 HDAC3 c.884G>A p.G295D Substitution - Missense Large_intestine COSM4789288 PHF11 c.623A>G p.H208R Substitution - Missense Liver COSM4925402 ZGPAT c.129G>T p.L43L Substitution - coding silent Liver COSM5028960 BRWD3 c.4830A>G p.G1610G Substitution - coding silent Breast COSM5061072 NIPBL c.20A>G p.H7R Substitution - Missense Stomach COSM5039006 BRD7 c.385G>T p.E129* Substitution - Nonsense Liver COSM5387543 KDM6B c.1030G>A p.A344T Substitution - Missense Skin COSM5366228 PRDM15 c.1414T>A p.F472I Substitution - Missense Large_intestine COSM5499252 GTF3C1 c.5472C>T p.D1824D Substitution - coding silent Biliary_tract COSM5461726 PCGF2 c.477G>C p.E159D Substitution - Missense Large_intestine COSM5445082 EYA4 c.773C>G p.S258C Substitution - Missense Oesophagus COSM5631587 KMT2C c.2407G>T p.A803S Substitution - Missense Oesophagus COSM5717662 KMT2D c.6709C>T p.H2237Y Substitution - Missense Skin COSM5742999 ZBTB38 c.622G>A p.V208I Substitution - Missense Small_intestine COSM5722091 EP400 c.3451G>A p.E1151K Substitution - Missense Skin COSM5608286 DNMT3A c.791C>T p.P264L Substitution - Missense Skin COSM5662540 PRDM5 c.467delG p.G156fs*72 Deletion - Frameshift Soft_tissue COSM5549396 EP400 c.8581G>A p.A2861T Substitution - Missense Prostate COSM5952036 MYST3 c.12C>T p.L4L Substitution - coding silent Oesophagus COSM5946446 CREBBP c.3988C>T p.Q1330* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5923381 DNMT3L c.61G>A p.G21R Substitution - Missense Skin COSM5932605 ERCC6 c.1403G>A p.W468* Substitution - Nonsense Skin COSM5985331 ARID2 c.4565C>G p.T1522S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5985335 KMT2D c.3482G>A p.G1161D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6000244 KMT2D c.1167C>T p.Y389Y Substitution - coding silent Prostate COSM85769 EZH2 c.? p.Y646? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5347224 ARID1A c.?_?del? p.Q575fs*? Deletion - Frameshift Endometrium COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3727849 TRIM66 c.1888C>G p.L630V Substitution - Missense Upper_aerodigestive_tract COSM1314178 NCOA2 c.4145G>A p.S1382N Substitution - Missense Urinary_tract COSM948234 TDRD3 c.1140G>A p.P380P Substitution - coding silent Endometrium COSM4993768 ZBTB4 c.30G>A p.P10P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM243046 ARID1A c.4948C>T p.Q1650* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM956531 ARID4A c.2039C>T p.P680L Substitution - Missense Endometrium COSM5807315 DUSP1 c.372A>T p.G124G Substitution - coding silent Liver COSM1067088 PRDM9 c.1758G>T p.G586G Substitution - coding silent Endometrium COSM4819299 HDAC9 c.839C>T p.S280L Substitution - Missense Cervix COSM364119 SMARCA2 c.4025G>T p.R1342L Substitution - Missense Lung COSM324425 ZMYM4 c.2725C>T p.Q909* Substitution - Nonsense Lung COSM956540 ARID4A c.3027T>A p.L1009L Substitution - coding silent Endometrium COSM4170102 TET2 c.3412_3413insAAAT p.I1140fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1978003 PRDM10 c.2488G>A p.V830I Substitution - Missense Stomach COSM4766124 TET2 c.4160A>G p.N1387S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1081853 PHIP c.3753C>T p.F1251F Substitution - coding silent Endometrium COSM1604908 MTA2 c.1493G>A p.R498Q Substitution - Missense Liver COSM1423181 SETMAR c.480G>A p.P160P Substitution - coding silent Pancreas COSM5890270 ACTB c.899C>A p.S300Y Substitution - Missense Skin COSM3142261 CHD1 c.4025T>C p.M1342T Substitution - Missense Large_intestine COSM1128636 ATF7IP c.1589A>G p.K530R Substitution - Missense Prostate COSM4603373 EP400 c.8156_8157insGCA p.Q2748_T2749insQ Insertion - In frame Autonomic_ganglia COSM1315697 ATRX c.6413C>T p.S2138F Substitution - Missense Urinary_tract COSM3608987 KDM3B c.4399G>A p.E1467K Substitution - Missense Skin COSM4654196 TRIM24 c.1489A>G p.R497G Substitution - Missense Large_intestine COSM3447390 PRDM11 c.510C>T p.I170I Substitution - coding silent Skin COSM4454316 SETDB1 c.460A>G p.M154V Substitution - Missense Skin COSM3738468 TET2 c.? p.V1864E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1107817 SMARCA2 c.3925C>T p.R1309C Substitution - Missense Endometrium COSM677844 TDRD5 c.1021G>C p.V341L Substitution - Missense Lung COSM4689187 GTF3C1 c.438delG p.K147fs*3 Deletion - Frameshift Large_intestine COSM961974 TP53BP1 c.4569C>T p.Y1523Y Substitution - coding silent Endometrium COSM1310145 CLOCK c.392T>C p.I131T Substitution - Missense Urinary_tract COSM3441508 BTAF1 c.4295C>T p.S1432F Substitution - Missense Skin COSM686168 KMT2A c.4006G>T p.E1336* Substitution - Nonsense Lung COSM748207 ZCWPW1 c.1679C>T p.S560L Substitution - Missense Lung COSM5785794 SRCAP c.897T>A p.D299E Substitution - Missense Breast COSM5468419 ERCC6 c.3755T>G p.L1252W Substitution - Missense Large_intestine COSM1099930 MYST3 c.3270G>A p.S1090S Substitution - coding silent Endometrium COSM4440695 TBL1XR1 c.1261G>C p.D421H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4831891 UHRF1 c.252C>A p.L84L Substitution - coding silent Liver COSM1444905 TDRD6 c.4550delA p.M1520fs*1 Deletion - Frameshift Stomach COSM1034775 TCF20 c.1396C>A p.L466I Substitution - Missense Endometrium COSM1317255 ATRX c.666G>C p.W222C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1257902 MPHOSPH8 c.1832G>C p.G611A Substitution - Missense Stomach COSM5788093 IDH1 c.601C>G p.L201V Substitution - Missense Breast COSM4590120 KDM4B c.2128A>G p.K710E Substitution - Missense Upper_aerodigestive_tract COSM5560457 ING1 c.669G>A p.M223I Substitution - Missense Prostate COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM4837005 ACTL6A c.627C>T p.L209L Substitution - coding silent Cervix COSM1581522 PRDM16 c.2275C>T p.R759W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4074983 BRD4 c.618G>T p.P206P Substitution - coding silent Stomach COSM3948045 EYA4 c.686C>A p.P229Q Substitution - Missense Lung COSM4463557 CHD6 c.1297C>T p.P433S Substitution - Missense Liver COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85916 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM1701859 GTF3C4 c.2437C>T p.P813S Substitution - Missense Skin COSM315768 TAF1 c.12C>A p.G4G Substitution - coding silent Soft_tissue COSM5642805 PBRM1 c.2240A>G p.K747R Substitution - Missense Oesophagus COSM4070332 CHD3 c.1547G>A p.R516Q Substitution - Missense Stomach COSM4945597 HNF1A c.1047C>G p.H349Q Substitution - Missense Liver COSM1235256 TBL1XR1 c.614delG p.G205fs*5 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4160094 PRDM1 c.501C>G p.D167E Substitution - Missense Thyroid COSM2929529 TFPT c.262C>T p.R88C Substitution - Missense Large_intestine COSM1302018 CHD9 c.3955C>T p.R1319* Substitution - Nonsense Urinary_tract COSM1600294 ASXL3 c.877G>A p.E293K Substitution - Missense Skin COSM3978581 ERCC6 c.2337C>T p.F779F Substitution - coding silent Lung COSM4702494 KMT2C c.8577C>A p.H2859Q Substitution - Missense Large_intestine COSM355307 NCOA2 c.1784G>T p.G595V Substitution - Missense Lung COSM5407179 HDAC9 c.1518G>A p.E506E Substitution - coding silent Skin COSM211757 TET2 c.2586_2587insG p.H863fs*9 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4642618 SP110 c.1536G>C p.K512N Substitution - Missense Large_intestine COSM87001 DNMT3A c.2644C>A p.R882S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4386097 BAZ2B c.2254G>T p.G752C Substitution - Missense Large_intestine COSM5616120 TAF1L c.5341G>A p.E1781K Substitution - Missense Lung COSM5404405 EYA4 c.789C>T p.F263F Substitution - coding silent Skin COSM3604094 GABRG1 c.613G>A p.E205K Substitution - Missense Skin COSM1612163 DPF1 c.226delC p.R76fs*30 Deletion - Frameshift Liver COSM5420906 SFMBT1 c.2066C>A p.T689N Substitution - Missense Prostate COSM4384726 KMT2D c.8474G>A p.G2825D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM992130 BRD4 c.2071G>A p.G691S Substitution - Missense Endometrium COSM4976363 BAP1 c.1730-1G>A p.? Unknown Oesophagus COSM5355435 DHX30 c.463C>T p.R155C Substitution - Missense Large_intestine COSM106635 CHD6 c.1545C>T p.I515I Substitution - coding silent Skin COSM1469185 ZMYM3 c.252delG p.L85fs*28 Deletion - Frameshift Breast COSM1045656 SMARCC1 c.2016G>T p.E672D Substitution - Missense Endometrium COSM466669 PRMT3 c.1304C>T p.S435L Substitution - Missense Kidney COSM4596479 BAHCC1 c.5240A>C p.N1747T Substitution - Missense Upper_aerodigestive_tract COSM4232590 LBR c.902C>T p.A301V Substitution - Missense Upper_aerodigestive_tract COSM1307306 NCOA6 c.582G>A p.M194I Substitution - Missense Urinary_tract COSM257501 NCOA2 c.2791A>C p.N931H Substitution - Missense Large_intestine COSM1377537 SETD1A c.3537G>A p.P1179P Substitution - coding silent Stomach COSM4773905 BRWD3 c.1271T>C p.L424P Substitution - Missense Stomach COSM98210 SFMBT2 c.2648G>C p.R883T Substitution - Missense Upper_aerodigestive_tract COSM1023510 KDM3A c.3205A>T p.I1069F Substitution - Missense Endometrium COSM2098718 CHD4 c.56A>G p.D19G Substitution - Missense Large_intestine COSM2874663 NCOA2 c.450C>T p.N150N Substitution - coding silent Large_intestine COSM4479122 HCFC1 c.2007C>T p.T669T Substitution - coding silent Skin COSM1051855 PRMT10 c.973G>A p.A325T Substitution - Missense Endometrium COSM329620 ZCWPW2 c.633A>C p.K211N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5368593 MGA c.155G>T p.S52I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM931220 SUV420H1 c.381T>G p.F127L Substitution - Missense Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6006414 KMT2C c.7234C>A p.P2412T Substitution - Missense Central_nervous_system COSM438811 MBD3 c.260A>G p.N87S Substitution - Missense Breast COSM5757826 ARID4A c.585A>G p.V195V Substitution - coding silent Bone COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5751649 PHF6 c.302_303insT p.R101fs*11 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1296224 ARID1A c.3598C>T p.Q1200* Substitution - Nonsense Stomach COSM1076 SMARCB1 c.379A>G p.R127G Substitution - Missense Central_nervous_system COSM2270959 DNMT3A c.1110C>A p.Y370* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5361283 SMARCC2 c.3568+1delG p.? Unknown Large_intestine COSM721476 SMEK2 c.1510G>T p.G504C Substitution - Missense Lung COSM3509072 MYST1 c.844C>T p.P282S Substitution - Missense Skin COSM5931363 PBRM1 c.197G>A p.R66K Substitution - Missense Skin COSM4833720 KDM4B c.584T>A p.L195Q Substitution - Missense Cervix COSM977057 PHF12 c.1037C>T p.S346L Substitution - Missense Skin COSM745595 HDAC9 c.2466+1G>T p.? Unknown Lung COSM5587039 ZGPAT c.734A>G p.Y245C Substitution - Missense Skin COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM324048 TTF2 c.911C>T p.T304I Substitution - Missense Lung COSM4582493 BRD1 c.181T>C p.L61L Substitution - coding silent Bone COSM4211817 AICDA c.428-4G>T p.? Unknown Skin COSM6005377 ATRX c.6218-6T>A p.? Unknown Prostate COSM5988159 PRDM16 c.1867T>C p.S623P Substitution - Missense Salivary_gland COSM5711061 TDRD7 c.1148C>T p.S383L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1626140 ATRX c.3904delA p.R1302fs*44 Deletion - Frameshift Liver COSM32761 PHC1 c.1838C>G p.S613* Substitution - Nonsense Breast COSM4107969 HCFC1 c.3669G>A p.P1223P Substitution - coding silent Stomach COSM3962670 ING5 c.86G>A p.R29Q Substitution - Missense Lung COSM4153251 BAG6 c.1354C>G p.H452D Substitution - Missense Ovary COSM5104962 BAHCC1 c.3660G>A p.P1220P Substitution - coding silent Large_intestine COSM4134435 ASXL1 c.3759T>C p.S1253S Substitution - coding silent Soft_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3304594 KMT2C c.1079C>A p.T360N Substitution - Missense Breast COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96933 ATRX c.6457C>T p.R2153C Substitution - Missense Central_nervous_system COSM3812168 KMT2D c.1001A>T p.N334I Substitution - Missense Breast COSM1341426 ARID1A c.5542delG p.D1850fs*33 Deletion - Frameshift Stomach COSM5342464 ARID4A c.1991C>A p.S664* Substitution - Nonsense Large_intestine COSM1492053 HDAC1 c.1162G>A p.A388T Substitution - Missense Kidney COSM3813522 ZMYM2 c.1619G>A p.R540Q Substitution - Missense Breast COSM4804835 PRDM16 c.1392C>A p.T464T Substitution - coding silent Liver COSM3060104 MBD4 c.1242A>G p.T414T Substitution - coding silent Large_intestine COSM4975924 STK31 c.2661G>C p.M887I Substitution - Missense Oesophagus COSM742197 BRPF3 c.403G>C p.A135P Substitution - Missense Lung COSM5181727 RERE c.4575C>T p.A1525A Substitution - coding silent Upper_aerodigestive_tract COSM4042373 KMT2D c.6824C>A p.P2275H Substitution - Missense Stomach COSM3697891 TDRD6 c.2260A>T p.N754Y Substitution - Missense Large_intestine COSM5563371 CREBBP c.5723A>G p.Q1908R Substitution - Missense Prostate COSM5966020 KMT2C c.4007C>T p.S1336F Substitution - Missense Breast COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2859925 TIF1 c.2567delA p.K858fs*9 Deletion - Frameshift Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5740297 MGA c.4588T>A p.S1530T Substitution - Missense Small_intestine COSM3488258 PRDM16 c.3579G>A p.G1193G Substitution - coding silent Skin COSM3545562 NCOA6 c.2962C>T p.P988S Substitution - Missense Skin COSM255568 KDM4C c.845A>T p.N282I Substitution - Missense Central_nervous_system COSM4695028 KDM5D c.2375G>A p.R792H Substitution - Missense Large_intestine COSM1023002 INO80B c.25G>A p.A9T Substitution - Missense Endometrium COSM88025 SMARCA4 c.2729C>T p.T910M Substitution - Missense Central_nervous_system COSM240327 KDM5A c.3470G>A p.R1157H Substitution - Missense Prostate COSM4672087 CHD7 c.4886G>A p.R1629H Substitution - Missense Large_intestine COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1606531 CHD4 c.2288T>G p.V763G Substitution - Missense Liver COSM4935179 ATRX c.2531C>T p.T844I Substitution - Missense Liver COSM1716596 TET2 c.1691G>A p.W564* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4529245 PRDM5 c.1599G>A p.K533K Substitution - coding silent Skin COSM3781642 SETD2 c.3613C>T p.R1205* Substitution - Nonsense Pancreas COSM2007420 KMT2D c.1284C>T p.P428P Substitution - coding silent Large_intestine COSM289942 KMT2C c.2447_2448insA p.Y816fs*1 Insertion - Frameshift Central_nervous_system COSM758306 BRWD3 c.2242G>A p.E748K Substitution - Missense Lung COSM1240158 SETD5_ENST00000402198 c.3335C>T p.A1112V Substitution - Missense Liver COSM4921993 KDM3A c.2604G>A p.T868T Substitution - coding silent Liver COSM1377470 SRCAP c.3733delG p.Q1247fs*57 Deletion - Frameshift Large_intestine COSM266753 KDM3B c.577C>T p.R193* Substitution - Nonsense Large_intestine COSM750807 NCOA2 c.2432A>T p.D811V Substitution - Missense Lung COSM3048236 SP110 c.1555C>T p.R519C Substitution - Missense Stomach COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5737756 NCOA7 c.2390C>T p.A797V Substitution - Missense Small_intestine COSM5131843 ARID1B c.4505A>G p.Q1502R Substitution - Missense Small_intestine COSM3890626 CHD3 c.5075C>G p.P1692R Substitution - Missense Skin COSM121633 PRDM9 c.1050C>T p.G350G Substitution - coding silent Upper_aerodigestive_tract COSM4472153 KDM3B c.1763C>T p.S588F Substitution - Missense Skin COSM405183 PRDM12 c.570+1_570+2delGT p.? Unknown Lung COSM87916 NCOR1 c.1584_1585insA p.E529fs*7 Insertion - Frameshift Breast COSM4383184 TRIM33 c.1249A>T p.N417Y Substitution - Missense Large_intestine COSM75423 KMT2A c.5068G>C p.D1690H Substitution - Missense Ovary COSM4821108 SMARCD3 c.996C>G p.I332M Substitution - Missense Cervix COSM4838821 MTF2 c.696A>G p.Q232Q Substitution - coding silent Cervix COSM1193975 KDM5A c.3786G>T p.Q1262H Substitution - Missense Lung COSM1756743 KMT2A c.5154G>T p.G1718G Substitution - coding silent Urinary_tract COSM758303 BRWD3 c.1924C>A p.Q642K Substitution - Missense Lung COSM3813403 ING1 c.58C>G p.L20V Substitution - Missense Breast COSM3777067 NCOA7 c.2142C>G p.V714V Substitution - coding silent Urinary_tract COSM347387 TAF1L c.3237G>C p.E1079D Substitution - Missense Lung COSM131035 ARID2 c.4413_4419delACATTCT p.H1472fs*11 Deletion - Frameshift Liver COSM1704418 RSF1 c.1202G>A p.G401E Substitution - Missense Skin COSM2965385 KDM6A c.2264C>T p.T755M Substitution - Missense Upper_aerodigestive_tract COSM1184394 KMT2C c.3875G>A p.R1292Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1028936 C20orf20 c.457G>T p.A153S Substitution - Missense Endometrium COSM4913569 KAT6B c.599T>C p.L200P Substitution - Missense Liver COSM3048279 SP110 c.413C>T p.A138V Substitution - Missense Stomach COSM1234985 RBBP4 c.988G>A p.E330K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3416866 ARID2 c.4929T>C p.F1643F Substitution - coding silent Large_intestine COSM1128133 TDRD1 c.3306A>C p.K1102N Substitution - Missense Prostate COSM1348872 SFMBT2 c.2124C>T p.A708A Substitution - coding silent Large_intestine COSM2105358 KMT2A c.1629G>A p.T543T Substitution - coding silent Large_intestine COSM4565485 ARID2 c.2145_2146GG>AA p.A716T Substitution - Missense Skin COSM990429 DNMT1 c.4560C>T p.D1520D Substitution - coding silent Endometrium COSM37029 EZH2 c.1937A>C p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6003183 AP001011.3_ENST00000320876 c.5526G>A p.A1842A Substitution - coding silent Prostate COSM4172517 KDM6A c.? p.L615V Substitution - Missense Skin COSM1348577 JMJD1C c.5364delA p.E1789fs*45 Deletion - Frameshift Large_intestine COSM4603245 PCGF6 c.84_85insGCCTCC p.P28_V29insAS Insertion - In frame Upper_aerodigestive_tract COSM267466 SMARCD1 c.911T>C p.L304P Substitution - Missense Large_intestine COSM4591023 KMT2C c.871C>T p.L291F Substitution - Missense Liver COSM5785816 HDGFL1 c.586C>G p.P196A Substitution - Missense Breast COSM3731914 MTA1 c.1344+5delG p.? Unknown Large_intestine COSM4410977 SETD2 c.126T>A p.Y42* Substitution - Nonsense Kidney COSM2151411 SMYD2 c.1032C>A p.Y344* Substitution - Nonsense Central_nervous_system COSM4492859 KAT2B c.404C>T p.S135F Substitution - Missense Skin COSM2095547 TDRD5 c.2128C>T p.P710S Substitution - Missense Skin COSM4458446 SMYD1 c.1085C>T p.S362F Substitution - Missense Skin COSM440070 KDM4B c.1867C>A p.P623T Substitution - Missense Breast COSM1177280 TDRD6 c.819G>A p.S273S Substitution - coding silent Thyroid COSM753629 TAF1L c.752C>A p.P251Q Substitution - Missense Lung COSM4440804 NCOA6 c.961C>A p.L321M Substitution - Missense Large_intestine COSM4927698 DMAP1 c.441C>T p.L147L Substitution - coding silent Liver COSM1034990 PHF21B c.346G>A p.A116T Substitution - Missense Pancreas COSM3461199 HDAC7 c.367G>A p.E123K Substitution - Missense Skin COSM3670408 KIAA2026_ENST00000399933 c.3853C>T p.R1285* Substitution - Nonsense Central_nervous_system COSM5749411 TRRAP c.10880T>G p.L3627R Substitution - Missense Genital_tract COSM5048721 PBRM1 c.1619G>C p.R540T Substitution - Missense Oesophagus COSM1315516 KDM6A c.1531A>T p.R511* Substitution - Nonsense Urinary_tract COSM4395119 SFMBT1 c.2136C>T p.S712S Substitution - coding silent Skin COSM4767418 ARID1B c.2449A>C p.S817R Substitution - Missense Biliary_tract COSM1442452 HDGFL1 c.372C>T p.G124G Substitution - coding silent Large_intestine COSM1372665 BAHD1 c.2053C>T p.P685S Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM392604 TET2 c.3058_3059insA p.Q1021fs*6 Insertion - Frameshift Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3741291 KDM4A c.662G>T p.R221L Substitution - Missense Liver COSM110818 BAP1 c.1_2190del2190 p.0? Whole gene deletion Pericardium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM461638 KMT2C c.850C>T p.R284* Substitution - Nonsense Breast COSM5042228 PHC3 c.1723G>A p.E575K Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4996895 ATAD2 c.3150G>C p.L1050F Substitution - Missense Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5431620 UTY c.4003G>T p.D1335Y Substitution - Missense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4385253 EP300 c.3635G>A p.S1212N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4833386 SP100 c.1810G>A p.E604K Substitution - Missense Cervix COSM4603312 EP400 c.8184_8185insCAG p.Q2748_T2749insQ Insertion - In frame Upper_aerodigestive_tract COSM1716407 CTCF c.149delT p.V50fs*12 Deletion - Frameshift Endometrium COSM1243704 TRRAP c.7891G>A p.A2631T Substitution - Missense Oesophagus COSM4825356 CCDC101 c.217G>A p.E73K Substitution - Missense Cervix COSM2720022 CHD7 c.2830C>T p.R944C Substitution - Missense Large_intestine COSM1172714 NCOA6 c.3194C>T p.S1065F Substitution - Missense Skin COSM1469466 ATRX c.3810A>C p.R1270S Substitution - Missense Large_intestine COSM4590631 GLYR1 c.1377C>G p.H459Q Substitution - Missense Upper_aerodigestive_tract COSM2828890 SETD5_ENST00000402198 c.4174C>A p.P1392T Substitution - Missense Large_intestine COSM132968 ASXL1 c.? p.E635fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM5733014 EP400 c.113C>T p.P38L Substitution - Missense Pancreas COSM5463400 HDAC3 c.49C>A p.H17N Substitution - Missense Large_intestine COSM5458268 KAT5 c.544C>T p.R182W Substitution - Missense Large_intestine COSM3600240 PHF17 c.1781C>T p.P594L Substitution - Missense Skin COSM3734328 CREBBP c.6484G>C p.G2162R Substitution - Missense Pancreas COSM1169638 DNMT3A c.2501C>T p.T834I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4539413 MECOM c.2118G>A p.Q706Q Substitution - coding silent Skin COSM5719080 NCOA2 c.4384-2A>G p.? Unknown Skin COSM4649644 NCOA3 c.2379A>G p.G793G Substitution - coding silent Large_intestine COSM1430229 CLOCK c.368_369insT p.L123fs*14 Insertion - Frameshift Large_intestine COSM1128393 RNF17 c.1949+2T>A p.? Unknown Prostate COSM22665 MEN1 c.1162G>T p.E388* Substitution - Nonsense Parathyroid COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Biliary_tract COSM37030 EZH2 c.1936T>C p.Y646H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1092 SMARCB1 c.1158+26C>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM95402 TRIM28 c.1846G>A p.G616S Substitution - Missense Lung COSM108686 SMYD4 c.2370C>T p.S790S Substitution - coding silent Skin COSM125568 PRDM9 c.953A>T p.Y318F Substitution - Missense Upper_aerodigestive_tract COSM146636 TDRD10 c.542G>A p.R181Q Substitution - Missense Stomach COSM144221 ATRX c.6331C>T p.R2111* Substitution - Nonsense Central_nervous_system COSM144516 TET2 c.1842_1843insG p.L615fs*23 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM169244 BRWD3 c.655C>T p.R219C Substitution - Missense Skin COSM185219 MYST1 c.292C>T p.R98W Substitution - Missense Prostate COSM196570 RSF1 c.3805C>T p.R1269W Substitution - Missense Endometrium COSM247655 SUV420H1 c.2369C>T p.S790F Substitution - Missense Prostate COSM298325 ARID1A c.3978_3980delGCA p.Q1334delQ Deletion - In frame Breast COSM302162 EYA4 c.512G>A p.G171E Substitution - Missense Central_nervous_system COSM312426 L3MBTL3 c.827A>T p.E276V Substitution - Missense Lung COSM314413 PRDM9 c.2290C>T p.L764F Substitution - Missense Soft_tissue COSM305479 SHPRH c.2775C>G p.H925Q Substitution - Missense Central_nervous_system COSM303904 DNMT3A c.1516_1516delC p.H506fs*145 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM341171 TRIM28 c.429C>T p.A143A Substitution - coding silent Lung COSM457092 MECP2 c.438C>T p.G146G Substitution - coding silent Pancreas COSM975887 NCOR1 c.8G>C p.S3T Substitution - Missense Endometrium COSM985468 CHD3 c.2582C>T p.S861L Substitution - Missense Skin COSM985518 CHD3 c.4531C>T p.R1511C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM481986 BRD8 c.701T>A p.L234Q Substitution - Missense Kidney COSM486634 PRDM14 c.429T>C p.C143C Substitution - coding silent Kidney COSM684635 SIRT1 c.844C>A p.R282S Substitution - Missense Lung COSM955477 BAZ1A c.296C>T p.S99L Substitution - Missense Large_intestine COSM1027530 ZMYND8 c.978A>G p.R326R Substitution - coding silent Endometrium COSM919469 JMJD1C c.4697G>T p.S1566I Substitution - Missense Endometrium COSM758305 BRWD3 c.2044+2T>A p.? Unknown Lung COSM724840 DIDO1 c.5291C>A p.S1764* Substitution - Nonsense Lung COSM729789 ACTL6A c.476+1G>T p.? Unknown Lung COSM897352 HDGF c.654_656delGGA p.E218delE Deletion - In frame Endometrium COSM908301 HDAC1 c.1397_1399delAGG p.E468delE Deletion - In frame Endometrium COSM904647 LBR c.236G>A p.R79Q Substitution - Missense Endometrium COSM935905 SIRT4 c.759C>T p.A253A Substitution - coding silent Endometrium COSM1067645 NIPBL c.962G>T p.R321I Substitution - Missense Large_intestine COSM1066190 NSD1 c.641C>T p.T214I Substitution - Missense Endometrium COSM1114032 ZBTB33 c.1589T>C p.V530A Substitution - Missense Endometrium COSM1080967 PHF3 c.4973G>A p.R1658Q Substitution - Missense Endometrium COSM1251618 EYA2 c.703G>C p.E235Q Substitution - Missense Oesophagus COSM1233543 ZMYND11 c.1639C>T p.Q547* Substitution - Nonsense Large_intestine COSM1250503 DNMT3L c.538G>A p.E180K Substitution - Missense Skin COSM1228047 SUV420H1 c.355T>G p.F119V Substitution - Missense Large_intestine COSM1244201 ACTR8 c.1168A>G p.M390V Substitution - Missense Oesophagus COSM1209373 HDAC2 c.1213A>G p.R405G Substitution - Missense Large_intestine COSM1184971 BRWD1 c.3220C>T p.R1074C Substitution - Missense Large_intestine COSM1185614 ASH1L c.1921A>G p.I641V Substitution - Missense Lung COSM1606521 CHD4 c.5084G>A p.R1695H Substitution - Missense Liver COSM1296225 ARID1A c.3860G>C p.R1287T Substitution - Missense Urinary_tract COSM1296894 RNF134 c.141T>G p.P47P Substitution - coding silent Urinary_tract COSM1316372 JMJD1C c.299G>A p.S100N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1406095 SP110 c.752-1G>C p.? Unknown Large_intestine COSM1426222 TET2 c.5838_5839insA p.V1949fs*7 Insertion - Frameshift Large_intestine COSM1433371 KDM3B c.1447T>G p.L483V Substitution - Missense Large_intestine COSM1439493 PRDM1 c.227G>A p.R76H Substitution - Missense Large_intestine COSM1462644 KIAA2026_ENST00000399933 c.4240T>C p.S1414P Substitution - Missense Large_intestine COSM1467015 RBBP7 c.958T>G p.F320V Substitution - Missense Large_intestine COSM1361687 ARID2 c.1418C>A p.S473Y Substitution - Missense Large_intestine COSM1632622 EP300 c.3728+4A>C p.? Unknown Liver COSM1667249 KDM1A c.2513C>T p.A838V Substitution - Missense Skin COSM1689409 RNF2 c.344C>T p.P115L Substitution - Missense Skin COSM1716964 ALKBH1 c.356_357insCCTT p.K120fs*2 Insertion - Frameshift Ovary COSM1726308 MBD5 c.1419G>C p.M473I Substitution - Missense Liver COSM1756196 KDM4C c.2815G>A p.E939K Substitution - Missense Urinary_tract COSM1732533 SETD2 c.655C>T p.Q219* Substitution - Nonsense Soft_tissue COSM1732942 KMT2A c.10570C>T p.R3524W Substitution - Missense Pancreas COSM2068779 HDAC7 c.1635C>T p.A545A Substitution - coding silent Breast COSM2078557 PRDM16 c.2954A>G p.D985G Substitution - Missense Large_intestine COSM2151981 KDM1B c.1001C>T p.A334V Substitution - Missense Central_nervous_system COSM2828729 SETD5_ENST00000402198 c.219T>C p.P73P Substitution - coding silent Upper_aerodigestive_tract COSM2833310 GLYR1 c.832A>G p.M278V Substitution - Missense Upper_aerodigestive_tract COSM3356320 KMT2D c.9943C>T p.Q3315* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3500994 INOC1 c.4548C>T p.S1516S Substitution - coding silent Skin COSM3461585 KMT2D c.4961C>T p.P1654L Substitution - Missense Skin COSM3547376 NCOA3 c.1459C>T p.R487C Substitution - Missense Skin COSM3567438 MBD5 c.1306C>T p.P436S Substitution - Missense Skin COSM3567450 MBD5 c.2417C>T p.S806F Substitution - Missense Skin COSM3525458 ASXL3 c.2283C>T p.L761L Substitution - coding silent Skin COSM3668351 SUV420H2 c.1065C>A p.S355S Substitution - coding silent Liver COSM3739508 EP400 c.1111T>C p.Y371H Substitution - Missense Liver COSM3777605 BRPF3 c.56C>T p.S19F Substitution - Missense Urinary_tract COSM3815637 SETD3 c.24A>C p.K8N Substitution - Missense Breast COSM3807075 EPC1 c.774A>G p.K258K Substitution - coding silent Breast COSM3814469 CHD8 c.5565C>T p.R1855R Substitution - coding silent Breast COSM3800807 KDM5D c.1920G>C p.K640N Substitution - Missense Urinary_tract COSM3905428 BRD3 c.888C>T p.G296G Substitution - coding silent Stomach COSM3879502 KMT2C c.13858C>G p.H4620D Substitution - Missense Stomach COSM3879581 KMT2C c.4776C>T p.S1592S Substitution - coding silent Stomach COSM3887206 PYGO1 c.866C>T p.S289L Substitution - Missense Skin COSM3950768 BAZ1B c.172A>G p.S58G Substitution - Missense Lung COSM4031015 ARID1A c.4101+1G>C p.? Unknown Stomach COSM4046305 MPHOSPH8 c.947G>A p.S316N Substitution - Missense Stomach COSM4035920 KDM2A c.3047A>G p.D1016G Substitution - Missense Stomach COSM4115153 PHC3 c.985C>A p.P329T Substitution - Missense Stomach COSM4070756 SIRT7 c.341C>T p.A114V Substitution - Missense Stomach COSM4129609 NCOR1 c.568C>T p.R190* Substitution - Nonsense Upper_aerodigestive_tract COSM4161998 KMT2C c.2726G>A p.R909K Substitution - Missense Upper_aerodigestive_tract COSM4170431 KMT2D c.6218delC p.P2073fs*5 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4387939 HAT1 c.806C>T p.T269I Substitution - Missense Pancreas COSM4381931 KMT2C c.943G>T p.G315C Substitution - Missense Large_intestine COSM4383928 TET2 c.3937delG p.D1314fs*49 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4384094 NSD1 c.6739G>A p.A2247T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4387432 BAP1 c.437G>A p.R146K Substitution - Missense Eye COSM4390245 BTAF1 c.1600C>T p.R534* Substitution - Nonsense Urinary_tract COSM4424791 KDM3B c.2821C>T p.H941Y Substitution - Missense Oesophagus COSM4581743 NCOA6 c.5385C>G p.P1795P Substitution - coding silent Bone COSM4411449 BAP1 c.829C>T p.Q277* Substitution - Nonsense Kidney COSM4666083 BRD1 c.248C>A p.P83H Substitution - Missense Large_intestine COSM4732473 TBL1XR1 c.140C>A p.A47D Substitution - Missense Large_intestine COSM4702395 KMT2A c.6714A>G p.S2238S Substitution - coding silent Large_intestine COSM4620588 SRCAP c.6942C>T p.R2314R Substitution - coding silent Large_intestine COSM4611054 ASXL1 c.1935delT p.G646fs*57 Deletion - Frameshift Large_intestine COSM4645721 UTY c.3300C>T p.C1100C Substitution - coding silent Large_intestine COSM4771363 KMT2D c.14000C>A p.P4667H Substitution - Missense Pleura COSM4801375 PHF2 c.503A>C p.K168T Substitution - Missense Liver COSM4940406 TDRD5 c.2238T>A p.P746P Substitution - coding silent Liver COSM4879969 TP53BP1 c.3792A>C p.E1264D Substitution - Missense Prostate COSM4819907 DNMT3A c.1401C>T p.V467V Substitution - coding silent Cervix COSM4959810 KIAA2026_ENST00000399933 c.3004G>A p.G1002R Substitution - Missense Liver COSM4962509 KMT2D c.1632C>A p.P544P Substitution - coding silent Pancreas COSM5024172 KAT2A c.1300A>G p.R434G Substitution - Missense Bone COSM5408362 TRRAP c.6769C>T p.L2257F Substitution - Missense Skin COSM5392260 ZMYND8 c.1254G>A p.K418K Substitution - coding silent Skin COSM5392550 DIDO1 c.3571C>T p.L1191F Substitution - Missense Skin COSM5478654 CHD8 c.4459C>A p.L1487I Substitution - Missense Large_intestine COSM5426429 SMYD1 c.1215T>C p.H405H Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5454140 KMT2D c.7419+6T>C p.? Unknown Large_intestine COSM5631683 BMI1 c.862C>T p.H288Y Substitution - Missense Oesophagus COSM5716884 BRDT c.1311C>T p.L437L Substitution - coding silent Skin COSM5722793 UHRF1 c.1536G>A p.Q512Q Substitution - coding silent Skin COSM5748960 ZMYM3 c.2206C>T p.R736C Substitution - Missense Pancreas COSM5731239 ATRX c.6067_6071delCTCTT p.L2023fs*1 Deletion - Frameshift Central_nervous_system COSM5674966 TAF1L c.3176G>T p.G1059V Substitution - Missense Soft_tissue COSM5762503 MEN1 c.1013T>C p.L338P Substitution - Missense Pancreas COSM5561126 ACTR5 c.1643A>G p.N548S Substitution - Missense Prostate COSM5833138 PRMT7 c.796_797insG p.F267fs*2 Insertion - Frameshift Breast COSM5823645 EP400 c.7244A>G p.Q2415R Substitution - Missense Liver COSM5813852 SETD2 c.2623A>T p.K875* Substitution - Nonsense Liver COSM5987268 ARID1A c.112G>A p.E38K Substitution - Missense Salivary_gland COSM5991009 DNMT3L c.85G>A p.V29I Substitution - Missense Prostate COSM5968139 HCFC1 c.2185G>T p.G729W Substitution - Missense Genital_tract COSM6008697 HDAC6 c.2909C>A p.A970D Substitution - Missense Prostate COSM5984379 PRDM15 c.3393G>A p.M1131I Substitution - Missense Upper_aerodigestive_tract COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1685367 ASXL1 c.? p.L622fs*9 Frameshift Haematopoietic_and_lymphoid_tissue COSM1738039 ASXL1 c.? p.R625fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM249234 BRD4 c.2080A>T p.K694* Substitution - Nonsense Kidney COSM3203687 MECOM c.834T>G p.L278L Substitution - coding silent Upper_aerodigestive_tract COSM3783507 DIDO1 c.2877C>T p.T959T Substitution - coding silent Prostate COSM197613 KDM3A c.1582G>A p.E528K Substitution - Missense Cervix COSM384695 ARID1A c.6848G>A p.G2283D Substitution - Missense Lung COSM3393154 BRD8 c.2767G>T p.E923* Substitution - Nonsense Pancreas COSM1583069 DNMT3A c.1512_1512delG p.E505fs*146 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3053498 SMEK2 c.419A>G p.N140S Substitution - Missense Upper_aerodigestive_tract COSM4793815 SETD2 c.4813G>A p.V1605I Substitution - Missense Liver COSM426845 MTF2 c.1020G>C p.K340N Substitution - Missense Breast COSM5994293 MBD5 c.3284C>T p.A1095V Substitution - Missense Prostate COSM53112 TET2 c.? p.D1844G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM969920 SRCAP c.1027C>A p.L343M Substitution - Missense Endometrium COSM4565235 PHF20 c.1896_1897GG>TT p.D633Y Substitution - Missense Skin COSM4407051 PRDM9 c.2276A>G p.D759G Substitution - Missense Liver COSM4558279 PRDM5 c.760G>A p.E254K Substitution - Missense Skin COSM1716930 ASXL1 c.2621_2622delCT p.P874fs*5 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4788433 PHF21B c.1575G>A p.Q525Q Substitution - coding silent Liver COSM5493815 DNMT1 c.2395G>A p.A799T Substitution - Missense Biliary_tract COSM4636259 ACTR6 c.5C>T p.T2M Substitution - Missense Large_intestine COSM5581638 MECOM c.543C>T p.I181I Substitution - coding silent Skin COSM3013853 PRDM9 c.2188A>C p.S730R Substitution - Missense Thyroid COSM426004 ARID1A c.1582C>T p.Q528* Substitution - Nonsense Breast COSM1077967 RING1 c.284G>A p.R95Q Substitution - Missense Stomach COSM1322301 MTA2 c.1151C>G p.P384R Substitution - Missense Ovary COSM273860 ACTL6A c.402G>T p.E134D Substitution - Missense Large_intestine COSM3590486 FXR1 c.1558G>A p.G520R Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Biliary_tract COSM5346144 NIPBL c.1663G>A p.A555T Substitution - Missense Liver COSM4123984 WHSC1 c.521A>C p.K174T Substitution - Missense Stomach COSM1184904 BRD8 c.2500G>T p.D834Y Substitution - Missense Large_intestine COSM5615578 PRDM1 c.109G>T p.G37C Substitution - Missense Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Liver COSM2133114 BMI1 c.429G>T p.L143F Substitution - Missense Large_intestine COSM1686952 RERE c.4333C>T p.H1445Y Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM5612418 NCOR1 c.4423A>T p.I1475F Substitution - Missense Adrenal_gland COSM4898504 ACTL6A c.772G>A p.V258I Substitution - Missense Skin COSM4925475 KMT2D c.2670G>T p.V890V Substitution - coding silent Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM246834 PSIP1 c.64C>T p.P22S Substitution - Missense Prostate COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1028965 DIDO1 c.5901C>T p.F1967F Substitution - coding silent Skin COSM446633 SMARCC1 c.1561G>T p.A521S Substitution - Missense Breast COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3440087 SFMBT2 c.2430G>A p.E810E Substitution - coding silent Skin COSM1032618 SMARCB1 c.324G>A p.K108K Substitution - coding silent Endometrium COSM5447078 ZMYM4 c.2504T>C p.M835T Substitution - Missense Large_intestine COSM969914 SRCAP c.423C>T p.C141C Substitution - coding silent Endometrium COSM1738321 RAI1 c.825C>G p.S275R Substitution - Missense Ovary COSM376014 GLYATL1 c.483A>T p.A161A Substitution - coding silent Lung COSM1936607 BAZ2A c.1975G>T p.E659* Substitution - Nonsense Skin COSM4170135 TET2 c.4928delC p.P1644fs*51 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1161973 DNMT3A c.168G>T p.K56N Substitution - Missense Kidney COSM324373 ZCWPW1 c.1276T>C p.W426R Substitution - Missense Lung COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM417666 DOT1L c.1251G>A p.M417I Substitution - Missense Urinary_tract COSM5692515 PHF11 c.624T>C p.H208H Substitution - coding silent Soft_tissue COSM5424838 EP300 c.3501+2T>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4094438 MSH6 c.2000A>T p.D667V Substitution - Missense Stomach COSM3813625 RNF17 c.1244C>A p.S415Y Substitution - Missense Breast COSM213347 PRDM10 c.941A>C p.N314T Substitution - Missense Breast COSM3737745 ARID1B c.6181C>A p.Q2061K Substitution - Missense Soft_tissue COSM423956 GATAD2B c.1314G>C p.K438N Substitution - Missense Breast COSM4407483 ZMYM4 c.1721-6G>T p.? Unknown Pancreas COSM3547328 EYA2 c.293C>T p.S98F Substitution - Missense Skin COSM4731931 TAF1 c.1930_1931delAA p.K646fs*31 Deletion - Frameshift Large_intestine COSM262330 NCOA3 c.625G>A p.E209K Substitution - Missense Large_intestine COSM150428 KMT2C c.2958A>G p.P986P Substitution - coding silent Soft_tissue COSM4921819 EP300 c.4681A>G p.S1561G Substitution - Missense Liver COSM1626470 PYGO2 c.727C>A p.P243T Substitution - Missense Liver COSM4591233 NCOR1 c.534G>C p.K178N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3999517 BAHD1 c.77A>G p.E26G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1343976 PHF13 c.348_350delGAA p.K121delK Deletion - In frame Large_intestine COSM423567 TTF2 c.408T>A p.A136A Substitution - coding silent Breast COSM467315 SUV420H1 c.1465C>T p.P489S Substitution - Missense Kidney COSM5793265 KIAA2026_ENST00000399933 c.3498T>A p.N1166K Substitution - Missense Breast COSM4046677 RNF17 c.1359T>C p.N453N Substitution - coding silent Stomach COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3394088 BAG6 c.2090C>T p.S697L Substitution - Missense Pancreas COSM987434 AP001011.3_ENST00000320876 c.5501C>T p.T1834I Substitution - Missense Endometrium COSM1716773 TET2 c.1912A>G p.M638V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4634274 KDM6B c.797C>A p.P266H Substitution - Missense Large_intestine COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3550997 PRDM15 c.1328C>T p.P443L Substitution - Missense Skin COSM4896231 CREBBP c.7323C>T p.G2441G Substitution - coding silent Skin COSM460292 MBTD1 c.87G>C p.W29C Substitution - Missense Cervix COSM3594656 SETD2 c.4427C>T p.P1476L Substitution - Missense Skin COSM1130127 CBX4 c.657T>G p.G219G Substitution - coding silent Liver COSM3665219 CBX8 c.463G>C p.D155H Substitution - Missense Oesophagus COSM4766108 TET2 c.3954+2T>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1316398 ARID2 c.2909C>G p.P970R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5512600 PHF19 c.968+4C>T p.? Unknown Biliary_tract COSM1710408 CBX1 c.451G>A p.E151K Substitution - Missense Skin COSM5419604 NCOR1 c.7268A>G p.E2423G Substitution - Missense Liver COSM1732100 SETD2 c.3883G>T p.E1295* Substitution - Nonsense Kidney COSM1700244 EYA1 c.485G>A p.G162E Substitution - Missense Skin COSM5492385 CHD7 c.4G>A p.A2T Substitution - Missense Biliary_tract COSM3362964 KDM4B c.774C>A p.F258L Substitution - Missense Kidney COSM3410220 PRDM9 c.1717A>T p.I573L Substitution - Missense Central_nervous_system COSM940088 KMT2D c.2012+10G>A p.? Unknown Endometrium COSM689439 PHRF1 c.1073C>G p.S358C Substitution - Missense Lung COSM3637079 HDAC9 c.2650C>T p.P884S Substitution - Missense Skin COSM5038714 DIDO1 c.2541_2568del28 p.H847fs*28 Deletion - Frameshift Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM40361 MYST3 c.1575C>T p.S525S Substitution - coding silent Central_nervous_system COSM1602996 TDRD1 c.1611C>T p.R537R Substitution - coding silent Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1025735 ASXL1 c.3739C>T p.R1247C Substitution - Missense Endometrium COSM4040239 EP400 c.2512G>A p.A838T Substitution - Missense Stomach COSM43506 TET2 c.3523A>G p.I1175V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4120595 SETD5_ENST00000402198 c.4135A>G p.R1379G Substitution - Missense Stomach COSM488664 BRWD3 c.3181G>A p.A1061T Substitution - Missense Kidney COSM5824831 PHF19 c.965G>T p.S322I Substitution - Missense Pancreas COSM23051 MEN1 c.1546_1547insC p.R516fs*15 Insertion - Frameshift Parathyroid COSM1209180 GTF3C4 c.976C>T p.R326* Substitution - Nonsense Large_intestine COSM4840663 ALKBH1 c.950C>A p.S317* Substitution - Nonsense Cervix COSM4989245 RERE c.3569A>G p.K1190R Substitution - Missense Soft_tissue COSM1314138 CHD7 c.4072G>A p.D1358N Substitution - Missense Urinary_tract COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM301883 CBX1 c.525G>A p.S175S Substitution - coding silent Upper_aerodigestive_tract COSM3636551 KMT2C c.960C>T p.F320F Substitution - coding silent Skin COSM3704482 ARID1A c.2879-1G>A p.? Unknown Liver COSM5480950 TDRD5 c.1838A>G p.K613R Substitution - Missense Large_intestine COSM3820331 BPTF c.4442C>G p.S1481C Substitution - Missense Breast COSM3517986 HDAC5 c.1603C>T p.L535F Substitution - Missense Skin COSM1360186 EP400 c.8178A>G p.Q2726Q Substitution - coding silent Large_intestine COSM5624894 ATAD2B_ENST00000238789 c.4252G>C p.D1418H Substitution - Missense Oesophagus COSM4674656 CREBBP c.711C>T p.S237S Substitution - coding silent Large_intestine COSM1289713 EP400 c.89C>A p.A30D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4831669 SMCHD1 c.2907C>G p.I969M Substitution - Missense Cervix COSM6005557 MSH6 c.749T>C p.V250A Substitution - Missense Prostate COSM4987393 KDM6B c.2258C>T p.T753I Substitution - Missense Soft_tissue COSM87161 TET2 c.4138C>T p.H1380Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4677371 DHX30 c.983C>T p.A328V Substitution - Missense Large_intestine COSM3762912 TRRAP c.7257G>A p.A2419A Substitution - coding silent Large_intestine COSM25184 CHD9 c.2680C>G p.Q894E Substitution - Missense Lung COSM468037 EP400 c.8226A>G p.Q2742Q Substitution - coding silent Liver COSM393089 AICDA c.511C>T p.R171C Substitution - Missense Skin COSM3053494 SMEK2 c.456G>T p.V152V Substitution - coding silent Upper_aerodigestive_tract COSM3676420 EP400 c.9334G>A p.V3112I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3567434 MBD5 c.1102C>T p.P368S Substitution - Missense Skin COSM1123033 SMC1A c.1910A>G p.K637R Substitution - Missense Endometrium COSM5467678 TAF1L c.407C>T p.S136L Substitution - Missense Large_intestine COSM4292917 ADNP c.2457G>A p.K819K Substitution - coding silent Large_intestine COSM5059868 PBRM1 c.1087G>T p.A363S Substitution - Missense Stomach COSM4170633 ARID1A c.641C>T p.S214F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1732436 NCOA6 c.2881C>T p.P961S Substitution - Missense Bone COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1462026 TAF1L c.113C>T p.A38V Substitution - Missense Large_intestine COSM1359417 HNF1A c.865delC p.P291fs*51 Deletion - Frameshift Stomach COSM896930 ASH1L c.3645G>T p.E1215D Substitution - Missense Endometrium COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5699453 CHD7 c.2871G>T p.E957D Substitution - Missense Soft_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM161473 HDAC9 c.2323-1G>T p.? Unknown Breast COSM211737 TET2 c.4668_4669insT p.V1557fs*21 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3732036 BRPF1 c.2863C>T p.R955W Substitution - Missense Stomach COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3624661 BAG6 c.343C>T p.P115S Substitution - Missense Skin COSM954454 CHD8 c.858C>T p.R286R Substitution - coding silent Endometrium COSM896680 PYGO2 c.970C>A p.P324T Substitution - Missense Endometrium COSM4022814 TDRD10 c.365C>T p.P122L Substitution - Missense Stomach COSM5879012 TET2 c.3444T>G p.Y1148* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1754575 SHPRH c.2197G>C p.E733Q Substitution - Missense Urinary_tract COSM5447237 BPTF c.8634T>C p.R2878R Substitution - coding silent Large_intestine COSM98328 KAT2A c.2281G>A p.E761K Substitution - Missense Upper_aerodigestive_tract COSM2802596 KDM6B c.1875G>A p.P625P Substitution - coding silent Stomach COSM3668526 BRWD1 c.1152A>C p.L384L Substitution - coding silent Liver COSM1179669 KMT2C c.943G>A p.G315S Substitution - Missense Central_nervous_system COSM231338 CREBBP c.7088C>T p.P2363L Substitution - Missense Skin COSM2270967 TET2 c.3692T>C p.L1231P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5795542 DAXX c.2051C>T p.T684M Substitution - Missense Breast COSM1072928 NCOA7 c.1447G>T p.D483Y Substitution - Missense Endometrium COSM1400332 BAZ2B c.6479delA p.K2160fs*8 Deletion - Frameshift Large_intestine COSM695536 AICDA c.195C>T p.I65I Substitution - coding silent Lung COSM3672696 L3MBTL4 c.1371C>A p.P457P Substitution - coding silent Prostate COSM1427014 PHF17 c.1174_1175insC p.R394fs*11 Insertion - Frameshift Large_intestine COSM133044 EZH2 c.403G>A p.G135R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4827146 CHD7 c.5977G>C p.D1993H Substitution - Missense Cervix COSM1196590 NCOA6 c.5515C>T p.L1839F Substitution - Missense Skin COSM3447100 RAG2 c.284G>A p.G95E Substitution - Missense Skin COSM4511002 KDM2A c.854C>T p.A285V Substitution - Missense Skin COSM5408774 ATAD2 c.3913G>A p.E1305K Substitution - Missense Skin COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM993 SMARCB1 c.601C>T p.R201* Substitution - Nonsense Central_nervous_system COSM1688033 BRDT c.1904C>T p.S635F Substitution - Missense Skin COSM5346952 ARID1A c.4259_4260insG p.P1421fs*24 Insertion - Frameshift Endometrium COSM2965387 KDM6A c.2364C>T p.A788A Substitution - coding silent Upper_aerodigestive_tract COSM1602148 ARID1A c.3972delC p.P1326fs*155 Deletion - Frameshift Large_intestine COSM3877218 PHF14 c.2400A>G p.S800S Substitution - coding silent Stomach COSM1067657 NIPBL c.1546G>T p.G516C Substitution - Missense Endometrium COSM1587022 ZMYM2 c.2203_2206delAAGA p.K735fs*11 Deletion - Frameshift Endometrium COSM3815512 SMEK1 c.1111-2A>C p.? Unknown Breast COSM28786 KDM6A c.997C>T p.Q333* Substitution - Nonsense Pancreas COSM28786 KDM6A c.997C>T p.Q333* Substitution - Nonsense Oesophagus COSM1349795 BTAF1 c.1604G>A p.R535K Substitution - Missense Large_intestine COSM1704418 RSF1 c.1202G>A p.G401E Substitution - Missense Liver COSM3548772 DIDO1 c.5870C>T p.P1957L Substitution - Missense Skin COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Urinary_tract COSM1316247 TBL1XR1 c.1457T>G p.I486R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM255213 MEN1 c.1621A>G p.T541A Substitution - Missense Soft_tissue COSM3627955 TDRD6 c.2243A>T p.Y748F Substitution - Missense Skin COSM1386340 ZBTB4 c.1220C>A p.P407H Substitution - Missense Large_intestine COSM3808495 KMT2A c.10130C>T p.S3377L Substitution - Missense Breast COSM467731 PRDM4 c.727A>T p.N243Y Substitution - Missense Kidney COSM1666235 ING3 c.967T>A p.S323T Substitution - Missense Eye COSM936442 SETD8 c.981G>A p.A327A Substitution - coding silent Bone COSM3901355 NCOA2 c.223G>T p.E75* Substitution - Nonsense Stomach COSM1513902 RNF17 c.486C>T p.F162F Substitution - coding silent Stomach COSM13394 MSH6 c.3261_3262insC p.F1088fs*5 Insertion - Frameshift Stomach COSM2160406 SFMBT2 c.2222G>A p.R741Q Substitution - Missense Central_nervous_system COSM5049516 EP300 c.4199G>A p.S1400N Substitution - Missense Oesophagus COSM5913744 CDYL2 c.806C>G p.T269S Substitution - Missense Skin COSM1184908 BRD8 c.2748C>A p.S916R Substitution - Missense Large_intestine COSM5442990 RNF17 c.696_697insA p.N235fs*2 Insertion - Frameshift Oesophagus COSM1716065 MEN1 c.349C>G p.L117V Substitution - Missense Small_intestine COSM139058 MLLT6 c.1295T>A p.V432D Substitution - Missense Skin COSM5556810 POGZ c.3169A>G p.I1057V Substitution - Missense Prostate COSM2041366 KDM2A c.1704A>G p.R568R Substitution - coding silent Large_intestine COSM5623705 KDM5C c.4003C>A p.P1335T Substitution - Missense Oesophagus COSM218428 ARID1A c.6076C>T p.Q2026* Substitution - Nonsense Pancreas COSM5047408 EP300 c.758A>G p.Y253C Substitution - Missense Oesophagus COSM5708588 TBL1XR1 c.869C>G p.T290R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4895343 KDM6B c.2640G>A p.R880R Substitution - coding silent Skin COSM3440147 SFMBT2 c.1284C>T p.A428A Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1742149 KMT2D c.15209G>T p.R5070L Substitution - Missense Urinary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4159761 NSD1 c.6903G>C p.G2301G Substitution - coding silent Soft_tissue COSM110818 BAP1 c.1_2190del2190 p.0? Whole gene deletion Pleura COSM2834946 CHD9 c.7938A>T p.A2646A Substitution - coding silent Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3017530 SHPRH c.4871G>A p.R1624Q Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5416556 SMYD1 c.1280A>G p.H427R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1043292 KAT2B c.1469G>A p.R490H Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3748936 TRRAP c.356G>A p.R119H Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM675214 GATAD2B c.1694G>A p.G565D Substitution - Missense Lung COSM5809421 BAG6 c.1631T>C p.M544T Substitution - Missense Liver COSM480367 PBRM1 c.2128C>T p.R710* Substitution - Nonsense Skin COSM136172 ASH1L c.1727C>T p.S576L Substitution - Missense Skin COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM4468643 BAHD1 c.1554C>T p.V518V Substitution - coding silent Skin COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Biliary_tract COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM4500465 KAT6B c.5663C>T p.P1888L Substitution - Missense Skin COSM4840270 PRMT10 c.2156G>A p.R719H Substitution - Missense Cervix COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5352290 EP300 c.? p.I1612V Substitution - Missense Endometrium COSM4640818 TRRAP c.927G>A p.M309I Substitution - Missense Large_intestine COSM314414 PRDM9 c.1675C>A p.R559R Substitution - coding silent Lung COSM1292539 BAZ1B c.2135A>G p.D712G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3649306 MYST3 c.1411T>C p.F471L Substitution - Missense Skin COSM213669 PRDM1 c.1433G>A p.S478N Substitution - Missense Breast COSM5444730 ARID1A c.5152G>T p.E1718* Substitution - Nonsense Biliary_tract COSM3909800 SP110 c.424C>T p.P142S Substitution - Missense Skin COSM703234 SETD1A c.115G>A p.V39M Substitution - Missense Lung COSM1230393 TRIM66 c.2597G>T p.R866L Substitution - Missense Large_intestine COSM1724609 PHF8 c.2383_2385delGAG p.E795delE Deletion - In frame Stomach COSM5177792 BAZ2A_ENST00000379441 c.3263G>A p.R1088H Substitution - Missense Large_intestine COSM1496343 DAXX c.1751C>T p.T584M Substitution - Missense Kidney COSM1179714 CHD6 c.2742G>A p.E914E Substitution - coding silent Prostate COSM88110 JMJD1C c.125G>A p.R42Q Substitution - Missense Large_intestine COSM5422928 KDM6A c.2436_2443delTAACTCTG p.N813fs*19 Deletion - Frameshift Prostate COSM1351611 KMT2A c.2584C>T p.R862* Substitution - Nonsense Skin COSM1740874 ARID1B c.5688delG p.N1897fs*59 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4665228 BAZ2A c.4660C>T p.L1554F Substitution - Missense Large_intestine COSM3817961 CREBBP c.5063C>T p.T1688M Substitution - Missense Breast COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM29382 SMARCB1 c.1143delG p.A382fs*5 Deletion - Frameshift Central_nervous_system COSM41990 ASXL1 c.4183C>G p.L1395V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM76556 SP110 c.520C>G p.P174A Substitution - Missense Ovary COSM221351 KMT2D c.11110C>T p.Q3704* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Upper_aerodigestive_tract COSM162522 MLL5 c.4261G>A p.V1421I Substitution - Missense Breast COSM226648 TAF1L c.2662C>T p.R888C Substitution - Missense Skin COSM244867 HDAC10 c.337C>T p.L113L Substitution - coding silent Prostate COSM252490 EP400 c.6590A>T p.Y2197F Substitution - Missense Ovary COSM297068 PHF2 c.2961C>A p.T987T Substitution - coding silent Thyroid COSM312833 MEN1 c.1287G>A p.T429T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM307359 ASXL1 c.3658A>T p.I1220F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM359150 BAHCC1 c.2935G>T p.G979C Substitution - Missense Lung COSM369718 ZMYM1 c.1578G>A p.W526* Substitution - Nonsense Lung COSM379400 EYA4 c.876G>A p.A292A Substitution - coding silent Lung COSM432867 PRMT5 c.646C>T p.H216Y Substitution - Missense Breast COSM455884 KIAA1045 c.1162C>T p.R388C Substitution - Missense Endometrium COSM464486 ZMYM1 c.2349A>T p.E783D Substitution - Missense Kidney COSM979881 HDAC5 c.178C>T p.R60W Substitution - Missense Kidney COSM1026100 NCOA6 c.1604C>T p.S535L Substitution - Missense Skin COSM751055 CHD7 c.4521C>T p.S1507S Substitution - coding silent Lung COSM743359 PHF3 c.2848G>T p.V950L Substitution - Missense Lung COSM1692144 SP140_ENST00000392045 c.208C>T p.R70C Substitution - Missense Upper_aerodigestive_tract COSM910301 RAD54L c.2200G>A p.V734I Substitution - Missense Endometrium COSM923572 KMT2A c.1279C>T p.R427W Substitution - Missense Endometrium COSM990466 DNMT1 c.151G>A p.E51K Substitution - Missense Endometrium COSM1007235 MBD5 c.3009C>T p.C1003C Substitution - coding silent Endometrium COSM1124895 TAF1 c.2850G>T p.V950V Substitution - coding silent Endometrium COSM1125505 ATRX c.1370T>A p.I457N Substitution - Missense Endometrium COSM1108229 TAF1L c.3369T>C p.I1123I Substitution - coding silent Endometrium COSM1125898 BRWD3 c.180G>C p.L60L Substitution - coding silent Endometrium COSM1087039 EZH2 c.2033T>G p.F678C Substitution - Missense Endometrium COSM1106299 GTF3C4 c.2456C>A p.S819Y Substitution - Missense Endometrium COSM1087519 KMT2C c.13267G>T p.D4423Y Substitution - Missense Endometrium COSM1183566 ARID2 c.2003C>A p.S668Y Substitution - Missense Large_intestine COSM1197087 BAZ1B c.3914C>T p.P1305L Substitution - Missense Liver COSM1217946 NSD1 c.3742G>A p.E1248K Substitution - Missense Large_intestine COSM1185432 SCMH1 c.45G>T p.M15I Substitution - Missense Lung COSM1169575 PBRM1 c.(1915_1917)delC p.(L639)fs*? Deletion - Frameshift Kidney COSM1577230 MEN1 c.593G>A p.W198* Substitution - Nonsense Parathyroid COSM1299387 ARID2 c.5482G>C p.E1828Q Substitution - Missense Urinary_tract COSM1319427 SMC1A c.1757G>A p.R586Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1401400 ATF2 c.1367C>T p.S456L Substitution - Missense Skin COSM1342383 MEAF6 c.239G>A p.R80Q Substitution - Missense Large_intestine COSM1363350 MBD6 c.2338delG p.G782fs*13 Deletion - Frameshift Stomach COSM1360178 EP400 c.4944C>T p.G1648G Substitution - coding silent Large_intestine COSM1565740 NCOA3 c.3765G>A p.Q1255Q Substitution - coding silent Large_intestine COSM1488405 KMT2C c.2068G>T p.E690* Substitution - Nonsense Breast COSM1619139 PRDM8 c.549C>G p.H183Q Substitution - Missense Liver COSM1581804 TAF1L c.3746A>G p.Q1249R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1682745 BRWD3 c.2095C>T p.R699* Substitution - Nonsense Large_intestine COSM1640227 INOC1 c.685delA p.R229fs*45 Deletion - Frameshift Large_intestine COSM1728775 TRDMT1 c.104T>A p.V35D Substitution - Missense Liver COSM1756766 EP400 c.3426C>T p.L1142L Substitution - coding silent Urinary_tract COSM2027689 MTA1 c.1245T>C p.R415R Substitution - coding silent Pancreas COSM2243438 RERE c.2942delC p.P981fs*27 Deletion - Frameshift Large_intestine COSM2920000 CREBBP c.3250_3250+1insA p.I1084fs*3 Unknown Large_intestine COSM3033649 MECP2 c.1351A>G p.K451E Substitution - Missense Large_intestine COSM3112926 SRCAP c.4262C>T p.S1421F Substitution - Missense Large_intestine COSM3069721 DHX30 c.1780G>A p.G594R Substitution - Missense Large_intestine COSM3304460 KMT2C c.2349C>A p.S783S Substitution - coding silent Liver COSM3413904 JARID2 c.3548G>A p.R1183H Substitution - Missense Oesophagus COSM3397964 PHRF1 c.2921A>T p.D974V Substitution - Missense Central_nervous_system COSM3419152 ZMYM6 c.2884A>C p.N962H Substitution - Missense Large_intestine COSM3463399 SMARCC2 c.741C>T p.T247T Substitution - coding silent Skin COSM3464574 YEATS4 c.328A>G p.R110G Substitution - Missense Skin COSM3587826 HDAC11 c.204G>A p.E68E Substitution - coding silent Skin COSM3592252 ZCWPW2 c.446C>T p.S149L Substitution - Missense Skin COSM3547344 EYA2 c.1402C>T p.P468S Substitution - Missense Skin COSM3656846 TAF1L c.3160G>A p.E1054K Substitution - Missense Skin COSM3705046 ASH1L c.8120+8C>T p.? Unknown Liver COSM3734911 HDGF c.295G>A p.G99S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3725069 ZMYM2 c.2044G>A p.E682K Substitution - Missense Lung COSM3733331 SMARCA4 c.2897G>A p.R966Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3737134 BRD7 c.1368delG p.Y457fs*11 Deletion - Frameshift Soft_tissue COSM3745266 TDRD6 c.2959G>T p.E987* Substitution - Nonsense Liver COSM3756115 AP001011.3_ENST00000320876 c.4137A>G p.A1379A Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3869155 ALKBH3 c.605C>T p.P202L Substitution - Missense Skin COSM3842929 HDAC10 c.1753C>G p.L585V Substitution - Missense Breast COSM3833579 TRRAP c.4435G>A p.V1479M Substitution - Missense Breast COSM3907052 KIAA1045 c.482G>A p.R161H Substitution - Missense Stomach COSM4022666 GATAD2B c.49A>T p.S17C Substitution - Missense Stomach COSM4021106 TTF2 c.863G>T p.W288L Substitution - Missense Stomach COSM4023040 ASH1L c.7350T>C p.G2450G Substitution - coding silent Stomach COSM4021562 PRDM2 c.4278T>A p.N1426K Substitution - Missense Stomach COSM4040259 EP400 c.4452A>G p.A1484A Substitution - coding silent Stomach COSM3986354 DPF2 c.814T>C p.Y272H Substitution - Missense Kidney COSM4097611 DNMT3B c.2343C>T p.I781I Substitution - coding silent Stomach COSM4130984 SETBP1 c.4398G>T p.E1466D Substitution - Missense Soft_tissue COSM4164532 MSH6 c.2459G>A p.R820K Substitution - Missense Kidney COSM4598772 INTS12 c.1366G>A p.A456T Substitution - Missense Upper_aerodigestive_tract COSM4441103 JMJD1C c.3938C>T p.S1313F Substitution - Missense Large_intestine COSM4544187 MBD5 c.3518G>A p.G1173E Substitution - Missense Skin COSM4581997 ZGPAT c.888C>T p.A296A Substitution - coding silent Bone COSM4447676 UHRF1 c.1879G>A p.A627T Substitution - Missense Skin COSM4664621 ATRX c.5887C>T p.R1963W Substitution - Missense Large_intestine COSM4731010 SUZ12 c.1183A>G p.K395E Substitution - Missense Large_intestine COSM4637177 HDAC9 c.2762G>A p.G921D Substitution - Missense Large_intestine COSM4615076 TAF1 c.1930delA p.K646fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4655243 CREBBP c.2325G>A p.M775I Substitution - Missense Large_intestine COSM4771067 PRDM2 c.4758T>C p.H1586H Substitution - coding silent Pleura COSM4752031 SRCAP c.7330C>T p.R2444* Substitution - Nonsense Skin COSM4803888 RUVBL1 c.194C>T p.A65V Substitution - Missense Liver COSM4853467 GTF3C1 c.5542G>A p.E1848K Substitution - Missense Breast COSM4824902 WHSC1 c.3234C>G p.V1078V Substitution - coding silent Cervix COSM4958897 TDRD6 c.661G>A p.G221S Substitution - Missense Liver COSM5024942 EP300 c.7121C>T p.S2374F Substitution - Missense Breast COSM5008576 EP300 c.2978A>G p.Q993R Substitution - Missense Large_intestine COSM5047782 EP300 c.1465A>T p.K489* Substitution - Nonsense Oesophagus COSM5406231 PHF14 c.1611C>G p.I537M Substitution - Missense Skin COSM5499342 SIRT6 c.692G>A p.R231H Substitution - Missense Biliary_tract COSM5473475 ZMYM6 c.3778G>A p.A1260T Substitution - Missense Large_intestine COSM5462231 KMT2D c.10383C>A p.A3461A Substitution - coding silent Large_intestine COSM5446396 NCOA3 c.3789_3791delGCA p.Q1276delQ Deletion - In frame Thyroid COSM5438154 CARM1 c.950C>G p.S317C Substitution - Missense Oesophagus COSM5575853 KMT2A c.1885C>T p.P629S Substitution - Missense Stomach COSM5656088 INOC1 c.2041G>A p.G681R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5653525 JMJD1C c.1208C>G p.T403S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5730344 CARM1 c.284A>G p.K95R Substitution - Missense Breast COSM5721443 EHMT1 c.344C>T p.S115L Substitution - Missense Skin COSM5593286 SRCAP c.8232C>T p.P2744P Substitution - coding silent Skin COSM5606074 SMARCA4 c.3065C>T p.S1022F Substitution - Missense Skin COSM5606356 BRD3 c.220C>T p.H74Y Substitution - Missense Skin COSM5606486 DOT1L c.3889C>T p.P1297S Substitution - Missense Skin COSM5696418 KMT2D c.2973G>T p.L991L Substitution - coding silent Soft_tissue COSM5657868 MECOM c.1018delC p.L340fs*2 Deletion - Frameshift Soft_tissue COSM5557688 GTF3C1 c.4418A>G p.K1473R Substitution - Missense Prostate COSM5763147 TRRAP c.4713+1G>A p.? Unknown Large_intestine COSM5565420 ASH1L c.8731C>T p.R2911* Substitution - Nonsense Prostate COSM5785100 TAF1L c.3022A>G p.T1008A Substitution - Missense Breast COSM5879924 KDM6A c.823A>G p.K275E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5879013 TET2 c.3532delG p.E1178fs*48 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5909937 ATRX c.4909G>A p.E1637K Substitution - Missense Skin COSM5920786 BAHD1 c.1198C>T p.P400S Substitution - Missense Skin COSM5990312 TRIM66 c.3105A>G p.G1035G Substitution - coding silent Liver COSM5985276 KMT2C c.1963G>A p.V655I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6000581 SMARCC2 c.3030T>C p.S1010S Substitution - coding silent Prostate COSM6000633 KDM5A c.2116C>A p.L706M Substitution - Missense Prostate COSM5971842 SETD6 c.415G>C p.E139Q Substitution - Missense Upper_aerodigestive_tract COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Bone COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5574291 ASXL1 c.? p.G646fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM43409 TET2 c.? p.?fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4166528 TET2 c.? p.Q966fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM5006576 BAP1 c.?_?ins? p.?fs*? Insertion - Frameshift Kidney COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM3153168 EP300 c.4336T>A p.Y1446N Substitution - Missense Central_nervous_system COSM1313266 BAZ1B c.4095G>C p.R1365S Substitution - Missense Urinary_tract COSM921421 BTAF1 c.973G>A p.D325N Substitution - Missense Endometrium COSM4645247 PRMT7 c.1227C>T p.S409S Substitution - coding silent Large_intestine COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM3849778 LMNB1 c.1228C>T p.R410C Substitution - Missense Stomach COSM4590139 KAT2A c.1586A>C p.H529P Substitution - Missense Upper_aerodigestive_tract COSM4514509 IDH2 c.977C>T p.S326F Substitution - Missense Skin COSM5451671 MSH6 c.3103C>T p.R1035* Substitution - Nonsense Large_intestine COSM1095767 ATAD2 c.1210C>T p.R404* Substitution - Nonsense Skin COSM1333443 PRDM2 c.81G>A p.P27P Substitution - coding silent Stomach COSM1363341 MBD6 c.1324delC p.P443fs*44 Deletion - Frameshift Large_intestine COSM1378307 CHD9 c.895A>C p.N299H Substitution - Missense Large_intestine COSM3730891 ATXN7 c.1739G>A p.R580Q Substitution - Missense Stomach COSM3900245 MYST3 c.2863C>A p.P955T Substitution - Missense Stomach COSM3458243 EP400 c.4459C>T p.P1487S Substitution - Missense Skin COSM1641672 BAZ2B c.5671G>A p.D1891N Substitution - Missense Stomach COSM4916082 LBR c.1124A>G p.N375S Substitution - Missense Liver COSM4980383 BAZ2B c.2571A>G p.R857R Substitution - coding silent Oesophagus COSM4955547 MLL5 c.5470G>A p.V1824I Substitution - Missense Liver COSM4742965 ZMYND11 c.1218T>G p.S406S Substitution - coding silent Large_intestine COSM1109589 KDM4C c.1602C>A p.S534R Substitution - Missense Endometrium COSM51474 ARID1A c.1642C>T p.Q548* Substitution - Nonsense Ovary COSM1201010 CHD7 c.4446C>A p.F1482L Substitution - Missense Large_intestine COSM4575778 PHC1 c.217G>A p.V73I Substitution - Missense Adrenal_gland COSM4590380 KMT2C c.7443A>T p.R2481S Substitution - Missense Upper_aerodigestive_tract COSM3096220 HDAC8 c.978A>G p.T326T Substitution - coding silent Pancreas COSM1125434 ATRX c.4539G>T p.E1513D Substitution - Missense Endometrium COSM3621298 SHPRH c.2307C>T p.I769I Substitution - coding silent Skin COSM5785393 ZMYM2 c.2818A>T p.K940* Substitution - Nonsense Breast COSM3509560 CREBBP c.2782C>T p.P928S Substitution - Missense Skin COSM1075346 ARID1B c.2889A>C p.E963D Substitution - Missense Endometrium COSM1128636 ATF7IP c.1589A>G p.K530R Substitution - Missense Prostate COSM3973942 ATRX c.784C>T p.Q262* Substitution - Nonsense Central_nervous_system COSM3512610 CDYL2 c.615C>T p.L205L Substitution - coding silent Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM2931093 DIDO1 c.5228delT p.V1743fs*121 Deletion - Frameshift Large_intestine COSM4689609 HCFC2 c.2138A>G p.Y713C Substitution - Missense Large_intestine COSM985381 KDM6B c.1587G>A p.P529P Substitution - coding silent Endometrium COSM5726538 TCF20 c.742C>T p.P248S Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM5062320 KMT2C c.6836delC p.P2279fs*26 Deletion - Frameshift Stomach COSM3599594 PRDM5 c.181C>T p.R61C Substitution - Missense Skin COSM4428820 KDM4B c.3009C>T p.S1003S Substitution - coding silent Oesophagus COSM917771 EPC1 c.2375C>T p.A792V Substitution - Missense Endometrium COSM1167929 ARID2 c.2872C>T p.Q958* Substitution - Nonsense Large_intestine COSM443048 SMEK2 c.1900G>A p.E634K Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3512609 CDYL2 c.691G>C p.V231L Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1169690 TET2 c.? p.N1156I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5734782 HDAC4 c.3091_3113del23 p.L1031fs*37 Deletion - Frameshift Pancreas COSM3525856 SETBP1 c.1877G>A p.R626Q Substitution - Missense Skin COSM4692515 INOC1 c.4359G>A p.T1453T Substitution - coding silent Large_intestine COSM3733754 DNMT1 c.1875C>G p.Y625* Substitution - Nonsense Pancreas COSM1747002 HDAC7 c.2690G>A p.C897Y Substitution - Missense Urinary_tract COSM4777306 KMT2A c.3542G>T p.G1181V Substitution - Missense Breast COSM2778708 KDM4C c.3013C>T p.R1005* Substitution - Nonsense Stomach COSM5631612 PRDM16 c.3780C>T p.V1260V Substitution - coding silent Oesophagus COSM4713906 PHC3 c.2811_2813delAGA p.E937delE Deletion - In frame Large_intestine COSM224155 ARID1A c.3645G>A p.M1215I Substitution - Missense Skin COSM2965438 KDM6A c.3304G>A p.E1102K Substitution - Missense Oesophagus COSM4413679 KDM5A c.2643C>T p.G881G Substitution - coding silent Prostate COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5794516 ZMYM4 c.3085G>A p.E1029K Substitution - Missense Breast COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM1602162 ARID1A c.6767C>G p.S2256* Substitution - Nonsense Oesophagus COSM958749 SMEK1 c.1489G>A p.A497T Substitution - Missense Endometrium COSM3715358 ARID1B c.3202C>G p.P1068A Substitution - Missense Upper_aerodigestive_tract COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM150428 KMT2C c.2958A>G p.P986P Substitution - coding silent Soft_tissue COSM1686328 BRWD3 c.754C>T p.R252* Substitution - Nonsense Prostate COSM5895151 AICDA c.428-4_428-3insTT p.? Unknown Skin COSM745470 TRIM24 c.2683G>A p.E895K Substitution - Missense Lung COSM5352274 SMARCB1 c.730C>T p.Q244* Substitution - Nonsense Soft_tissue COSM1630066 NCOR1 c.515C>T p.S172L Substitution - Missense Central_nervous_system COSM1625263 PHF2 c.2401A>G p.M801V Substitution - Missense Liver COSM427634 ERCC6 c.2686C>T p.P896S Substitution - Missense Breast COSM220641 TAF1 c.3140T>C p.F1047S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM211703 TET2 c.3337_3337delG p.D1113fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM316439 KDM6A c.1268G>T p.W423L Substitution - Missense Lung COSM1583051 ASXL1 c.? p.L775fs*1 Frameshift Haematopoietic_and_lymphoid_tissue COSM1457753 CHD7 c.8803G>A p.E2935K Substitution - Missense Large_intestine COSM1021282 MSH6 c.2830A>G p.I944V Substitution - Missense Endometrium COSM3823169 SIRT6 c.964C>T p.Q322* Substitution - Nonsense Breast COSM1051180 PHF17 c.1220G>A p.R407Q Substitution - Missense Endometrium COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5910007 HCFC1 c.2061G>A p.T687T Substitution - coding silent Skin COSM3774230 BAG6 c.1855T>C p.S619P Substitution - Missense Soft_tissue COSM5939619 TDRD6 c.3331G>A p.V1111M Substitution - Missense Skin COSM1666943 EZH2 c.? p.L101P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2006724 KMT2D c.13351C>T p.R4451C Substitution - Missense Large_intestine COSM4645107 SETD1B c.853G>A p.V285I Substitution - Missense Large_intestine COSM1067076 PRDM9 c.914T>A p.V305E Substitution - Missense Endometrium COSM318944 BRD8 c.3450A>T p.L1150F Substitution - Missense Lung COSM4542107 TAF1L c.3126G>A p.W1042* Substitution - Nonsense Skin COSM6014603 EED c.20C>G p.S7W Substitution - Missense Skin COSM1611156 SMCHD1 c.851G>A p.R284H Substitution - Missense Liver COSM5563651 KMT2D c.10462C>T p.Q3488* Substitution - Nonsense Prostate COSM990724 CARM1 c.333C>T p.F111F Substitution - coding silent Skin COSM907742 ARID1A c.5481C>T p.C1827C Substitution - coding silent Endometrium COSM708013 ASXL3 c.500C>G p.T167S Substitution - Missense Lung COSM2803186 CHD3 c.4382G>A p.R1461H Substitution - Missense Large_intestine COSM213731 INOC1 c.1954G>C p.D652H Substitution - Missense Breast COSM1577241 MEN1 c.759_771del13 p.L254fs*23 Deletion - Frameshift Parathyroid COSM5944290 TET2 c.4257delT p.L1420fs*28 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1484686 ZBTB38 c.3103G>A p.E1035K Substitution - Missense Breast COSM4486648 NCOA1 c.3085C>G p.R1029G Substitution - Missense Skin COSM4093264 DNMT3A c.1574C>T p.A525V Substitution - Missense Large_intestine COSM369308 CHD6 c.5794G>T p.A1932S Substitution - Missense Lung COSM435030 CCDC101 c.803C>T p.S268F Substitution - Missense Breast COSM4938369 PRDM2 c.444A>G p.I148M Substitution - Missense Liver COSM3777933 ACTL6B c.714G>A p.E238E Substitution - coding silent Urinary_tract COSM3976625 TDRD5 c.1293A>G p.L431L Substitution - coding silent Lung COSM4985848 MSH6 c.2633T>C p.V878A Substitution - Missense Soft_tissue COSM4887403 PHF8 c.174G>T p.G58G Substitution - coding silent Upper_aerodigestive_tract COSM3763347 MYST3 c.4455C>T p.S1485S Substitution - coding silent Soft_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM303879 CTCF c.1130G>A p.R377H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4514944 ZMYM6 c.991C>T p.Q331* Substitution - Nonsense Skin COSM1266218 SMARCA2 c.669G>A p.Q223Q Substitution - coding silent Cervix COSM1008142 BAZ2B c.6128C>A p.S2043Y Substitution - Missense Endometrium COSM345419 HDAC11 c.729G>C p.K243N Substitution - Missense Lung COSM126317 SMARCA4 c.3566G>A p.R1189Q Substitution - Missense Upper_aerodigestive_tract COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4004435 STK31 c.1229G>A p.G410E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4387448 BAP1 c.256-25_270del40 p.? Unknown Eye COSM5407148 HDAC9 c.313A>T p.K105* Substitution - Nonsense Skin COSM52782 PBRM1 c.3220A>T p.K1074* Substitution - Nonsense Kidney COSM473501 CHD3 c.4545G>A p.P1515P Substitution - coding silent Prostate COSM3800235 TCF20 c.4342G>C p.E1448Q Substitution - Missense Urinary_tract COSM4960272 ATRX c.1351G>A p.A451T Substitution - Missense Liver COSM84427 L3MBTL4 c.621C>T p.S207S Substitution - coding silent Pancreas COSM4129634 RAI1 c.2374G>T p.G792C Substitution - Missense Thyroid COSM473831 SETBP1 c.1602C>A p.C534* Substitution - Nonsense Kidney COSM908313 PRDM16 c.488C>T p.A163V Substitution - Missense Large_intestine COSM5615720 PHF3 c.3545C>T p.T1182M Substitution - Missense Lung COSM4700978 MBD5 c.124T>G p.S42A Substitution - Missense Large_intestine COSM1747738 POGZ c.1582G>A p.G528S Substitution - Missense Urinary_tract COSM3742002 PRMT7 c.1070A>T p.E357V Substitution - Missense Liver COSM1067067 PRDM9 c.551G>A p.R184Q Substitution - Missense Endometrium COSM1600852 GATAD2B c.1005A>G p.P335P Substitution - coding silent Liver COSM1181008 CHD1 c.629delA p.K210fs*39 Deletion - Frameshift Large_intestine COSM4697165 L3MBTL4 c.211T>C p.F71L Substitution - Missense Large_intestine COSM4441799 NIPBL c.6080T>C p.M2027T Substitution - Missense Large_intestine COSM13892 MSH6 c.3656C>T p.T1219I Substitution - Missense Skin COSM3795308 SMYD4 c.382G>A p.D128N Substitution - Missense Urinary_tract COSM3697628 ARID1B c.195G>A p.Q65Q Substitution - coding silent Large_intestine COSM969951 SRCAP c.8576G>A p.R2859Q Substitution - Missense Endometrium COSM2889502 DNMT3B c.516C>T p.D172D Substitution - coding silent Stomach COSM5626612 BAZ2A_ENST00000379441 c.321C>T p.L107L Substitution - coding silent Oesophagus COSM3810194 KDM2A c.828C>T p.F276F Substitution - coding silent Pancreas COSM1461706 SMARCA2 c.1280G>A p.R427H Substitution - Missense Large_intestine COSM343090 ARID1B c.2013T>C p.S671S Substitution - coding silent Lung COSM166446 ASXL1 c.4243C>T p.R1415* Substitution - Nonsense Oesophagus COSM1703075 TDRD1 c.2882G>A p.G961E Substitution - Missense Skin COSM1180063 TP53BP1 c.2435A>G p.Y812C Substitution - Missense Prostate COSM328564 NIPBL c.423T>A p.N141K Substitution - Missense Kidney COSM147497 KMT2D c.2015-8C>T p.? Unknown Soft_tissue COSM2759352 PHF20 c.1689C>T p.D563D Substitution - coding silent Large_intestine COSM3823574 KAT2B c.1083C>G p.N361K Substitution - Missense Breast COSM3869750 MTA2 c.133C>T p.L45F Substitution - Missense Skin COSM1369660 BAZ1A c.167T>C p.V56A Substitution - Missense Large_intestine COSM5690104 KDM4D c.511G>T p.V171F Substitution - Missense Soft_tissue COSM233098 PHF2 c.296C>T p.P99L Substitution - Missense Skin COSM4072469 CXXC1 c.1859G>T p.R620L Substitution - Missense Stomach COSM2992784 SETD6 c.700G>A p.A234T Substitution - Missense Large_intestine COSM173648 SUV39H2 c.878G>A p.R293Q Substitution - Missense Large_intestine COSM147497 KMT2D c.2015-8C>T p.? Unknown Large_intestine COSM1128983 SRCAP c.2952A>C p.P984P Substitution - coding silent Urinary_tract COSM4841655 ING5 c.66G>C p.Q22H Substitution - Missense Cervix COSM4742902 ZMYM2 c.2210G>T p.G737V Substitution - Missense Large_intestine COSM4634065 GTF3C1 c.5057C>T p.A1686V Substitution - Missense Large_intestine COSM4583619 SMYD5 c.485G>A p.R162H Substitution - Missense Bone COSM703549 BRD7 c.349C>T p.P117S Substitution - Missense Lung COSM3642782 TRRAP c.4949G>T p.R1650L Substitution - Missense Skin COSM3438384 ERCC6 c.2001C>T p.T667T Substitution - coding silent Skin COSM1168021 TET2 c.5250_5254delCTATA p.D1750fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1664718 TRRAP c.3734T>A p.L1245* Substitution - Nonsense Kidney COSM5562027 TAF3 c.810T>C p.P270P Substitution - coding silent Prostate COSM4924164 BRDT c.171T>C p.D57D Substitution - coding silent Liver COSM2105558 KMT2A c.7795A>G p.M2599V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3501111 MGA c.7535T>A p.I2512N Substitution - Missense Skin COSM443929 NCOA5 c.1035C>T p.L345L Substitution - coding silent Breast COSM3848639 KIAA2026_ENST00000399933 c.1530G>C p.E510D Substitution - Missense Breast COSM3515945 SUZ12 c.698C>T p.S233F Substitution - Missense Skin COSM3358161 BAZ1B c.151A>G p.T51A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Liver COSM3576957 IDH1 c.567T>C p.I189I Substitution - coding silent Skin COSM1700788 SMARCA2 c.3386G>T p.G1129V Substitution - Missense Skin COSM5887276 WHSC1 c.3535T>G p.Y1179D Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4167251 TET2 c.? p.Q897* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1445557 PHF3 c.5239A>C p.N1747H Substitution - Missense Large_intestine COSM3349896 PHF1 c.575G>A p.G192D Substitution - Missense Large_intestine COSM4986789 CHD4 c.4657A>C p.T1553P Substitution - Missense Soft_tissue COSM1299143 EP400 c.8199G>A p.Q2733Q Substitution - coding silent Large_intestine COSM691516 HCFC2 c.908C>A p.S303Y Substitution - Missense Lung COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87254 IKZF1 c.1-?_160+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM966716 CHD2 c.3851T>G p.I1284S Substitution - Missense Endometrium COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM909993 DMAP1 c.456G>T p.W152C Substitution - Missense Endometrium COSM1257768 KMT2A c.2039C>T p.S680L Substitution - Missense Oesophagus COSM1360191 EP400 c.8634G>A p.A2878A Substitution - coding silent Large_intestine COSM4591181 KMT2C c.13249G>A p.A4417T Substitution - Missense Upper_aerodigestive_tract COSM1394330 UHRF1 c.2014_2015insC p.P674fs*35 Insertion - Frameshift Central_nervous_system COSM5344816 BRD8 c.2532+7C>T p.? Unknown Large_intestine COSM1738134 TET2 c.? p.H169fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM2808601 AP001011.3_ENST00000320876 c.3413C>T p.A1138V Substitution - Missense Cervix COSM4826375 YY1 c.705G>C p.E235D Substitution - Missense Cervix COSM5571569 KDM2B c.568G>A p.V190I Substitution - Missense Prostate COSM5768587 PHF14 c.2290A>G p.R764G Substitution - Missense Breast COSM4645726 PWWP2B c.548G>A p.S183N Substitution - Missense Large_intestine COSM4163285 PHF19 c.407A>C p.D136A Substitution - Missense Upper_aerodigestive_tract COSM204365 PHF15 c.606C>T p.C202C Substitution - coding silent Large_intestine COSM1195618 NCOR1 c.3821G>A p.C1274Y Substitution - Missense Lung COSM992 SMARCB1 c.472C>T p.R158* Substitution - Nonsense Soft_tissue COSM5967276 TET2 c.2792_2793insA p.D932fs*1 Insertion - Frameshift Salivary_gland COSM2159030 SIRT1 c.1178C>G p.P393R Substitution - Missense Central_nervous_system COSM5498465 ATRX c.5698-7delT p.? Unknown Biliary_tract COSM908686 ZMYM4 c.4335A>T p.K1445N Substitution - Missense Endometrium COSM301320 SUZ12 c.856C>T p.R286* Substitution - Nonsense Large_intestine COSM5348037 ACTL6A c.830+3delA p.? Unknown Liver COSM5647703 PRDM13 c.1523G>A p.S508N Substitution - Missense Oesophagus COSM1245946 BAP1 c.709C>T p.R237C Substitution - Missense Oesophagus COSM991717 MUM1 c.108A>C p.E36D Substitution - Missense Endometrium COSM1467076 SCML2 c.1928C>T p.T643I Substitution - Missense Large_intestine COSM1453235 TRRAP c.11154G>A p.P3718P Substitution - coding silent Stomach COSM457989 TAF1 c.2635A>G p.M879V Substitution - Missense Breast COSM4949549 ARID2 c.4774-2A>G p.? Unknown Liver COSM3710009 KMT2A c.8683G>T p.E2895* Substitution - Nonsense Upper_aerodigestive_tract COSM709185 L3MBTL4 c.1742C>G p.T581R Substitution - Missense Lung COSM5747397 KMT2D c.1889C>A p.P630H Substitution - Missense Pancreas COSM3877918 SND1 c.2304+1G>A p.? Unknown Oesophagus COSM5885270 MSH6 c.? p.G1072C Substitution - Missense Thyroid COSM231560 DNMT3A c.2206C>T p.R736C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM226200 EYA1 c.752C>T p.S251F Substitution - Missense Soft_tissue COSM365207 SP140_ENST00000392045 c.2537T>C p.L846P Substitution - Missense Lung COSM4977024 PRDM9 c.1279C>T p.P427S Substitution - Missense Oesophagus COSM2753097 PRMT1 c.769G>A p.V257M Substitution - Missense Large_intestine COSM4880700 KDM6A c.3822C>G p.S1274S Substitution - coding silent Prostate COSM6004375 NCOA6 c.5490G>T p.K1830N Substitution - Missense Prostate COSM4459915 KIAA1045 c.1146C>T p.L382L Substitution - coding silent Skin COSM1348067 ERCC6 c.3848A>G p.E1283G Substitution - Missense Large_intestine COSM1087617 KMT2C c.3776A>G p.D1259G Substitution - Missense Endometrium COSM3740694 ASH1L c.7804-5T>C p.? Unknown Liver COSM261231 HDAC9 c.513C>T p.S171S Substitution - coding silent Large_intestine COSM1137029 SETMAR c.45G>A p.A15A Substitution - coding silent Kidney COSM1462016 TAF1L c.818C>A p.S273Y Substitution - Missense Large_intestine COSM1640116 ARID4A c.1259delA p.D423fs*2 Deletion - Frameshift Large_intestine COSM4972516 RSF1 c.787G>C p.E263Q Substitution - Missense Oesophagus COSM1311077 PRDM9 c.1970G>C p.R657T Substitution - Missense Bone COSM1470228 PRDM16 c.1881C>T p.S627S Substitution - coding silent Prostate COSM1697063 BRPF3 c.1934C>T p.S645F Substitution - Missense Skin COSM1965199 KAT6B c.5967C>T p.L1989L Substitution - coding silent Large_intestine COSM1567726 PRDM9 c.2190C>A p.S730R Substitution - Missense Oesophagus COSM3881873 ACTB c.591C>A p.G197G Substitution - coding silent Stomach COSM3976621 TDRD5 c.915+10T>A p.? Unknown Lung COSM87120 TET2 c.3528_3528delG p.I1177fs*49 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4640540 DHX30 c.2338C>T p.R780W Substitution - Missense Large_intestine COSM729204 MECOM c.2752A>G p.T918A Substitution - Missense Lung COSM4698233 LMNB1 c.1025_1026insAG p.M346fs*5 Insertion - Frameshift Large_intestine COSM2803178 CHD3 c.4250G>A p.R1417Q Substitution - Missense Large_intestine COSM13394 MSH6 c.3261_3262insC p.F1088fs*5 Insertion - Frameshift Endometrium COSM13394 MSH6 c.3261_3262insC p.F1088fs*5 Insertion - Frameshift Large_intestine COSM5945137 EZH2 c.363G>A p.M121I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM937181 EP400 c.7069G>A p.V2357M Substitution - Missense Endometrium COSM1717558 KDM6A c.1556G>C p.R519P Substitution - Missense Ovary COSM4971875 CBX4 c.1514_1515insGGCGGC p.A510_P511insAA Insertion - In frame Haematopoietic_and_lymphoid_tissue COSM3701763 EP300 c.3281A>G p.K1094R Substitution - Missense Liver COSM52899 PBRM1 c.3805A>T p.K1269* Substitution - Nonsense Kidney COSM6011023 PHF7 c.680G>A p.R227K Substitution - Missense Skin COSM203096 ATAD2 c.354delA p.E119fs*8 Deletion - Frameshift Lung COSM720761 DNMT3A c.2375G>A p.R792H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1442452 HDGFL1 c.372C>T p.G124G Substitution - coding silent Large_intestine COSM1101400 PRDM14 c.336G>A p.P112P Substitution - coding silent Central_nervous_system COSM5433935 PHF10 c.257C>T p.T86I Substitution - Missense Oesophagus COSM1214642 MBD5 c.2689G>A p.A897T Substitution - Missense Biliary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2006835 KMT2D c.11443C>T p.Q3815* Substitution - Nonsense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1163422 SHPRH c.743T>C p.L248S Substitution - Missense Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1026862 CHD6 c.4449C>A p.I1483I Substitution - coding silent Endometrium COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1639819 ARID1A c.4550delC p.Q1519fs*8 Deletion - Frameshift Endometrium COSM4767586 ARID1B c.189A>G p.Q63Q Substitution - coding silent Biliary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1183834 ASXL1 c.2570T>C p.L857P Substitution - Missense Large_intestine COSM5577432 ERCC6 c.1558G>A p.E520K Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1262951 PRDM16 c.640G>A p.V214I Substitution - Missense Oesophagus COSM5890731 SETD8 c.413C>T p.P138L Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1447270 PHF14 c.271T>C p.S91P Substitution - Missense Large_intestine COSM5917985 BRPF1 c.376C>T p.P126S Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1109564 KDM4C c.472G>A p.V158I Substitution - Missense Endometrium COSM1027512 ZMYND8 c.3441G>A p.R1147R Substitution - coding silent Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3563106 ZMYM3 c.2809G>A p.E937K Substitution - Missense Skin COSM1377020 GTF3C1 c.4978C>T p.R1660C Substitution - Missense Large_intestine COSM3650718 EYA1 c.1228C>T p.P410S Substitution - Missense Skin COSM704908 NCOR1 c.4915G>T p.E1639* Substitution - Nonsense Lung COSM33732 IDH2 c.515G>T p.R172M Substitution - Missense Central_nervous_system COSM3923412 STK31 c.2375C>T p.P792L Substitution - Missense Skin COSM1087621 KMT2C c.3718G>T p.E1240* Substitution - Nonsense Endometrium COSM4830400 TP53BP1 c.316C>G p.Q106E Substitution - Missense Cervix COSM6016190 CHD9 c.5358G>A p.R1786R Substitution - coding silent Skin COSM302137 EP400 c.8181A>G p.Q2727Q Substitution - coding silent Central_nervous_system COSM390632 SMARCA5 c.1666A>G p.M556V Substitution - Missense Lung COSM5699932 EHMT2 c.506delC p.P169fs*42 Deletion - Frameshift Soft_tissue COSM4834974 KDM4C c.888C>G p.V296V Substitution - coding silent Cervix COSM5051787 BAZ2A_ENST00000379441 c.2429G>A p.R810Q Substitution - Missense Stomach COSM1265356 SETDB1 c.1069G>C p.E357Q Substitution - Missense Oesophagus COSM1161219 KDM6B c.117C>T p.S39S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3353056 TDRD6 c.759C>T p.A253A Substitution - coding silent Bone COSM3969087 BAHD1 c.704G>A p.R235H Substitution - Missense Central_nervous_system COSM3656494 SMARCA2 c.1407G>T p.V469V Substitution - coding silent Skin COSM3467902 RNF17 c.1393G>A p.E465K Substitution - Missense Skin COSM149408 ATXN7 c.2137C>T p.L713L Substitution - coding silent Bone COSM5612602 KMT2D c.7810C>T p.P2604S Substitution - Missense Adrenal_gland COSM4740589 VPS72 c.312G>T p.P104P Substitution - coding silent Liver COSM364311 KMT2A c.1280_1281GG>TT p.R427>? Complex Lung COSM4499064 DIDO1 c.5338C>T p.P1780S Substitution - Missense Skin COSM3363646 CBX6 c.146T>A p.L49Q Substitution - Missense Kidney COSM150056 JARID2 c.3205G>A p.E1069K Substitution - Missense Stomach COSM985861 BAHCC1 c.7266C>T p.F2422F Substitution - coding silent Endometrium COSM4884487 KMT2D c.12203C>A p.P4068H Substitution - Missense Upper_aerodigestive_tract COSM1002 SMARCB1 c.118C>T p.R40* Substitution - Nonsense Central_nervous_system COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM87073 TET2 c.590_591insC p.V198fs*4 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM108895 LBR c.1544C>T p.P515L Substitution - Missense Skin COSM122438 CXXC1 c.570G>A p.M190I Substitution - Missense Upper_aerodigestive_tract COSM133015 ARID1A c.5359G>T p.E1787* Substitution - Nonsense Stomach COSM220191 RERE c.640G>T p.E214* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM144618 KMT2D c.9494_9503del10 p.I3165fs*13 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM147637 EP400 c.6345G>A p.E2115E Substitution - coding silent Stomach COSM201010 ING1 c.586C>T p.R196* Substitution - Nonsense Endometrium COSM219271 CHD6 c.2037G>A p.M679I Substitution - Missense Breast COSM215749 SMARCA4 c.2461G>A p.E821K Substitution - Missense Central_nervous_system COSM213475 TAF1 c.488C>T p.P163L Substitution - Missense Breast COSM231575 DNMT3A c.2512A>G p.N838D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM287292 GLYR1 c.1140_1141insG p.R381fs*15 Insertion - Frameshift Large_intestine COSM328199 SHPRH c.476A>C p.D159A Substitution - Missense Pancreas COSM333792 KMT2A c.329C>A p.P110Q Substitution - Missense Lung COSM389228 BAHCC1 c.5847G>T p.R1949R Substitution - coding silent Lung COSM399628 PRMT3 c.739A>T p.I247L Substitution - Missense Lung COSM422091 CHD7 c.3841C>T p.Q1281* Substitution - Nonsense Urinary_tract COSM459435 BAZ2A c.4834C>T p.Q1612* Substitution - Nonsense Upper_aerodigestive_tract COSM584218 PBRM1 c.2216A>G p.N739S Substitution - Missense Skin COSM1028990 DIDO1 c.1866G>T p.T622T Substitution - coding silent Endometrium COSM745374 JHDM1D c.769G>C p.D257H Substitution - Missense Lung COSM704850 RAI1 c.4398G>A p.R1466R Substitution - coding silent Lung COSM712797 SIRT6 c.778G>T p.E260* Substitution - Nonsense Lung COSM726164 SMARCB1 c.446C>A p.T149K Substitution - Missense Skin COSM725155 BRWD1 c.5557C>A p.P1853T Substitution - Missense Lung COSM913241 BRDT c.1715C>T p.S572L Substitution - Missense Skin COSM928925 GLYATL1 c.126C>A p.L42L Substitution - coding silent Endometrium COSM995906 DPF1 c.810C>T p.A270A Substitution - coding silent Endometrium COSM961198 BAHD1 c.41C>T p.S14L Substitution - Missense Endometrium COSM961200 BAHD1 c.172C>T p.R58C Substitution - Missense Endometrium COSM1075352 ARID1B c.4078G>A p.G1360S Substitution - Missense Endometrium COSM1243063 ACTA1 c.1034G>A p.G345D Substitution - Missense Oesophagus COSM1227878 STK31 c.936A>C p.K312N Substitution - Missense Large_intestine COSM1241050 CTCF c.2155G>A p.E719K Substitution - Missense Oesophagus COSM1227533 SRCAP c.8300G>A p.R2767Q Substitution - Missense Large_intestine COSM1304229 GATAD2A c.313G>A p.V105I Substitution - Missense Urinary_tract COSM1331579 TAF1L c.1254C>T p.D418D Substitution - coding silent Ovary COSM1333945 VPS72 c.400C>T p.R134C Substitution - Missense Large_intestine COSM1377144 CCDC101 c.87G>A p.S29S Substitution - coding silent Large_intestine COSM1421139 FXR1 c.165delA p.E58fs*8 Deletion - Frameshift Large_intestine COSM1447012 MLL5 c.2613delA p.K873fs*8 Deletion - Frameshift Prostate COSM1453158 TRRAP c.3406C>T p.P1136S Substitution - Missense Skin COSM1443236 TCF19 c.935G>A p.G312D Substitution - Missense Large_intestine COSM1352575 PRDM10 c.628delC p.L210fs*5 Deletion - Frameshift Large_intestine COSM1362061 KMT2D c.1397G>A p.R466H Substitution - Missense Large_intestine COSM1478868 CREBBP c.3271C>T p.R1091C Substitution - Missense Breast COSM1610974 BAHCC1 c.18T>C p.F6F Substitution - coding silent Liver COSM1615601 CHD6 c.1837G>C p.G613R Substitution - Missense Liver COSM1679017 SRCAP c.2304G>T p.Q768H Substitution - Missense Large_intestine COSM1681833 DIDO1 c.3505C>A p.P1169T Substitution - Missense Ovary COSM1729153 ASXL3 c.62A>T p.Y21F Substitution - Missense Liver COSM1730123 PHF12 c.1630G>T p.E544* Substitution - Nonsense Liver COSM1750352 ZBTB4 c.761C>T p.A254V Substitution - Missense Urinary_tract COSM2156385 GLYR1 c.1027G>A p.G343S Substitution - Missense Central_nervous_system COSM2151193 CDYL2 c.483C>T p.A161A Substitution - coding silent Central_nervous_system COSM2801152 PHF12 c.2979C>T p.H993H Substitution - coding silent Thyroid COSM3153140 EP300 c.3621G>A p.E1207E Substitution - coding silent Upper_aerodigestive_tract COSM3341071 NSD1 c.2428T>C p.C810R Substitution - Missense Large_intestine COSM3423701 NCOA3 c.4083A>C p.E1361D Substitution - Missense Large_intestine COSM3417410 ZMYM2 c.166G>T p.D56Y Substitution - Missense Large_intestine COSM3441502 BTAF1 c.1986C>T p.T662T Substitution - coding silent Skin COSM3622289 ARID1B c.4632C>T p.S1544S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3636982 HDAC9 c.508C>T p.H170Y Substitution - Missense Skin COSM3579854 ATAD2B_ENST00000238789 c.434C>T p.P145L Substitution - Missense Skin COSM3547201 NCOA5 c.7A>G p.T3A Substitution - Missense Skin COSM3525841 SETBP1 c.145C>T p.P49S Substitution - Missense Skin COSM3665950 BTAF1 c.4561T>G p.Y1521D Substitution - Missense Liver COSM3705050 ASH1L c.5712A>G p.V1904V Substitution - coding silent Liver COSM3724251 ZMYM5 c.1133G>A p.R378H Substitution - Missense Upper_aerodigestive_tract COSM3730018 CHD3 c.1611_1612insC p.R540fs*47 Insertion - Frameshift Stomach COSM3713023 KDM4B c.1616C>A p.A539D Substitution - Missense Upper_aerodigestive_tract COSM3713023 KDM4B c.1616C>A p.A539D Substitution - Missense Upper_aerodigestive_tract COSM3725538 RNF2 c.591C>T p.T197T Substitution - coding silent Lung COSM3737073 SETD1A c.4511_4513delAGA p.K1505delK Deletion - In frame Soft_tissue COSM3745634 KMT2C c.1995A>G p.E665E Substitution - coding silent Liver COSM3783562 EP300 c.5490G>T p.R1830S Substitution - Missense Prostate COSM3857072 PRDM13 c.480C>T p.C160C Substitution - coding silent Stomach COSM3850180 PHF15 c.1650G>A p.W550* Substitution - Nonsense Stomach COSM3929972 EHMT1 c.2773G>A p.V925I Substitution - Missense Central_nervous_system COSM3840822 NCOA6 c.236-2A>T p.? Unknown Breast COSM3821898 SMARCA4 c.2900G>A p.R967H Substitution - Missense Breast COSM3822406 GATAD2A c.909G>A p.Q303Q Substitution - coding silent Breast COSM3826844 KDM3B c.1060A>T p.I354F Substitution - Missense Breast COSM3911099 DNMT3B c.1614C>T p.R538R Substitution - coding silent Skin COSM3883756 TRRAP c.7789G>A p.V2597I Substitution - Missense Stomach COSM3901368 EYA1 c.1602A>C p.K534N Substitution - Missense Stomach COSM3879128 EZH2 c.52C>T p.R18C Substitution - Missense Stomach COSM3946261 WHSC1 c.2741A>G p.E914G Substitution - Missense Lung COSM4010180 RERE c.4487-2A>C p.? Unknown Stomach COSM3986140 RAG2 c.823G>A p.G275S Substitution - Missense Kidney COSM3992427 RBBP7 c.1101T>C p.F367F Substitution - coding silent Kidney COSM4105079 HDAC10 c.1055C>A p.P352Q Substitution - Missense Stomach COSM4064322 RAI1 c.632A>G p.Q211R Substitution - Missense Stomach COSM4383778 TET2 c.1059T>A p.C353* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4392601 PRDM16 c.3052G>A p.G1018R Substitution - Missense Prostate COSM4413278 CHD6 c.2006A>T p.K669M Substitution - Missense Oesophagus COSM4602784 CHD8 c.5760G>C p.L1920F Substitution - Missense Upper_aerodigestive_tract COSM4526805 GLYATL1 c.141G>A p.R47R Substitution - coding silent Skin COSM4432189 DOT1L c.3902C>T p.S1301L Substitution - Missense Oesophagus COSM4586284 SHPRH c.4560C>T p.V1520V Substitution - coding silent Bone COSM4411449 BAP1 c.829C>T p.Q277* Substitution - Nonsense Cervix COSM4663889 ASXL1 c.1645delC p.R549fs*154 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4669282 CARM1 c.1675_1676insTTGTC p.Q561fs*>50 Insertion - Frameshift Large_intestine COSM4607267 ASXL3 c.2333C>T p.A778V Substitution - Missense Adrenal_gland COSM4637679 KDM5A c.3360C>T p.T1120T Substitution - coding silent Large_intestine COSM4615624 GATAD2A c.711_713delCAA p.N239delN Deletion - In frame Large_intestine COSM4612173 GABRG1 c.175_176insA p.I59fs*3 Insertion - Frameshift Large_intestine COSM4789700 JMJD1C c.3212A>T p.H1071L Substitution - Missense Liver COSM4804748 KDM3B c.13G>A p.A5T Substitution - Missense Liver COSM4848764 KDM5C c.96G>C p.A32A Substitution - coding silent Cervix COSM4835654 SMARCA4 c.4802G>A p.R1601Q Substitution - Missense Cervix COSM4809274 INOC1 c.2484G>T p.W828C Substitution - Missense Pancreas COSM5006490 TAF3 c.586C>T p.R196W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5019449 ERCC6 c.411G>A p.L137L Substitution - coding silent Soft_tissue COSM5020393 KDM6B c.607C>G p.P203A Substitution - Missense Soft_tissue COSM5023155 ATRX c.4148_4149insT p.Q1385fs*6 Insertion - Frameshift Bone COSM5016889 TDG c.547G>A p.G183R Substitution - Missense Kidney COSM5007885 ARID1A c.6357_6358insGT p.E2120fs*16 Insertion - Frameshift Large_intestine COSM5050356 TAF3 c.1485G>A p.P495P Substitution - coding silent Stomach COSM5088514 GTF3C1 c.5541delC p.E1848fs*33 Deletion - Frameshift Biliary_tract COSM5381134 RAD54L c.2173_2174insA p.D725fs*17 Insertion - Frameshift Skin COSM5412867 PHF8 c.1176C>T p.Y392Y Substitution - coding silent Skin COSM5388199 MBD1 c.1214G>A p.R405H Substitution - Missense Skin COSM5396712 DNMT3A c.1228G>A p.A410T Substitution - Missense Skin COSM5360576 KMT2A c.10511C>A p.A3504D Substitution - Missense Large_intestine COSM5516932 BAP1 c.91_93delGAG p.E31delE Deletion - In frame Biliary_tract COSM5514411 BAP1 c.122+1delG p.? Unknown Biliary_tract COSM5422825 GATAD2A c.1417T>C p.Y473H Substitution - Missense Pleura COSM5633232 PHF2 c.2037C>T p.Y679Y Substitution - coding silent Oesophagus COSM5642752 AKAP1 c.497A>G p.K166R Substitution - Missense Oesophagus COSM5641532 ADNP c.2855C>A p.A952E Substitution - Missense Oesophagus COSM5649665 PHF15 c.547G>C p.A183P Substitution - Missense Oesophagus COSM5611760 NCOA3 c.1197C>T p.G399G Substitution - coding silent Adrenal_gland COSM5656318 CREBBP c.1942-1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5771377 ADNP c.2208T>C p.S736S Substitution - coding silent Breast COSM5753887 KDM2B c.2913G>A p.L971L Substitution - coding silent Large_intestine COSM5722438 SETD1A c.895C>T p.R299W Substitution - Missense Skin COSM5717662 KMT2D c.6709C>T p.H2237Y Substitution - Missense Skin COSM5620061 PHF14 c.406G>A p.E136K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5606450 CREBBP c.3862C>T p.R1288W Substitution - Missense Skin COSM5667465 MGA c.7216G>T p.E2406* Substitution - Nonsense Soft_tissue COSM5778442 SETD5_ENST00000402198 c.4210A>C p.R1404R Substitution - coding silent Breast COSM5777964 BAZ1B c.2624G>A p.R875Q Substitution - Missense Breast COSM5792181 SETD1B c.508C>T p.R170W Substitution - Missense Breast COSM5834006 DIDO1 c.1389_1390insA p.S464fs*27 Insertion - Frameshift Breast COSM5951947 KDM5A c.2783C>G p.S928C Substitution - Missense Oesophagus COSM5944123 ASXL1 c.1628_1629insGGCTTGA p.D544fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5917955 ACTL6A c.572-5C>T p.? Unknown Skin COSM5965192 ATAD2B_ENST00000238789 c.2470C>G p.R824G Substitution - Missense Breast COSM5985195 TET2 c.4757C>G p.S1586* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5996575 PHF3 c.2578G>A p.G860R Substitution - Missense Prostate COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1666676 SETBP1 c.? p.I871T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716584 BAP1 c.660-?_783+?del p.? Unknown Pleura COSM144179 EZH2 c.? p.T393M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM256008 PHF6 c.1_1098del1098 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM256008 PHF6 c.1_1098del1098 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM6003792 KDM4B c.2558T>C p.V853A Substitution - Missense Prostate COSM4383972 TET2 c.5651C>T p.T1884I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5048309 CREBBP c.1074_1075insAG p.V359fs*31 Insertion - Frameshift Oesophagus COSM362131 NCOA5 c.1150G>T p.G384C Substitution - Missense Lung COSM122851 EP300 c.4195G>A p.D1399N Substitution - Missense Urinary_tract COSM1108 SMARCB1 c.? p.? Unknown Soft_tissue COSM314705 RBBP7 c.308-1G>T p.? Unknown Soft_tissue COSM1469472 ATRX c.3392G>T p.R1131I Substitution - Missense Breast COSM5164173 BAHCC1 c.4479G>A p.A1493A Substitution - coding silent Large_intestine COSM251421 ARID1A c.6260G>A p.G2087E Substitution - Missense Stomach COSM5913860 CHD3 c.682G>C p.V228L Substitution - Missense Skin COSM3818036 GLYR1 c.1559C>T p.P520L Substitution - Missense Breast COSM3844755 PHF16 c.1715C>G p.S572C Substitution - Missense Breast COSM4883152 JMJD1C c.1982C>A p.S661Y Substitution - Missense Upper_aerodigestive_tract COSM230133 KMT2C c.1173C>A p.C391* Substitution - Nonsense Soft_tissue COSM5483190 SRCAP c.9000G>A p.T3000T Substitution - coding silent Large_intestine COSM4118111 DHX30 c.1795T>A p.F599I Substitution - Missense Stomach COSM1215570 MSH6 c.1730G>A p.R577H Substitution - Missense Large_intestine COSM2098705 CHD4 c.182G>A p.R61Q Substitution - Missense Endometrium COSM1750541 CXXC1 c.413C>T p.S138L Substitution - Missense Urinary_tract COSM4771824 NCOA6 c.129G>A p.L43L Substitution - coding silent Stomach COSM4576306 TDRD10 c.749G>A p.R250H Substitution - Missense Bone COSM4628038 ATAD2B_ENST00000238789 c.587T>C p.V196A Substitution - Missense Large_intestine COSM4118001 SETD2 c.3892A>G p.I1298V Substitution - Missense Stomach COSM4643967 GTF3C1 c.4408G>T p.E1470* Substitution - Nonsense Large_intestine COSM53059 TET2 c.? p.Q764fs*7 Frameshift Haematopoietic_and_lymphoid_tissue COSM1361969 KMT2D c.13074delC p.T4359fs*11 Deletion - Frameshift Large_intestine COSM3022498 ARID1B c.6449C>T p.T2150M Substitution - Missense Large_intestine COSM988402 SETBP1 c.4188G>A p.K1396K Substitution - coding silent Endometrium COSM3717549 BPTF c.2910T>C p.D970D Substitution - coding silent Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM907727 ARID1A c.4417C>T p.Q1473* Substitution - Nonsense Pancreas COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM166838 TET2 c.5666C>T p.P1889L Substitution - Missense Skin COSM1756892 ARID4A c.1709T>G p.M570R Substitution - Missense Urinary_tract COSM1179107 KMT2C c.851G>A p.R284Q Substitution - Missense Upper_aerodigestive_tract COSM4959205 JMJD6 c.618G>A p.W206* Substitution - Nonsense Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5064757 SMC1A c.629A>C p.Q210P Substitution - Missense Stomach COSM1195681 SUV39H1 c.85T>C p.S29P Substitution - Missense Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM4568845 GABRG1 c.1360T>C p.F454L Substitution - Missense Skin COSM1035379 HDAC10 c.1131G>A p.R377R Substitution - coding silent Endometrium COSM987897 ASXL3 c.153G>T p.K51N Substitution - Missense Endometrium COSM3514758 RAI1 c.2970G>A p.E990E Substitution - coding silent Skin COSM85916 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1377858 CREBBP c.1801C>T p.R601W Substitution - Missense Large_intestine COSM2006795 KMT2D c.12249G>A p.P4083P Substitution - coding silent Large_intestine COSM5682750 SETD1B c.1017A>C p.P339P Substitution - coding silent Soft_tissue COSM5005586 SETD2 c.3283C>T p.R1095* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM2965438 KDM6A c.3304G>A p.E1102K Substitution - Missense Upper_aerodigestive_tract COSM5676585 GABRG1 c.1360T>A p.F454I Substitution - Missense Soft_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM387409 WHSC1 c.2863G>A p.G955R Substitution - Missense Large_intestine COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM163443 PHF20 c.418C>A p.Q140K Substitution - Missense Breast COSM4440199 TAF1L c.3331G>T p.A1111S Substitution - Missense Thyroid COSM448195 PRDM8 c.1903C>T p.R635C Substitution - Missense Breast COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4092822 ATAD2B_ENST00000238789 c.895C>T p.P299S Substitution - Missense Stomach COSM1288091 SMARCC2 c.3043C>A p.Q1015K Substitution - Missense Autonomic_ganglia COSM75012 ING2 c.759G>T p.W253C Substitution - Missense Ovary COSM6014928 KMT2D c.7425G>A p.K2475K Substitution - coding silent Skin COSM4694869 KDM1B c.498T>G p.T166T Substitution - coding silent Large_intestine COSM2078739 PHC2 c.1967G>A p.R656H Substitution - Missense Liver COSM53128 TET2 c.? p.D905fs*16 Frameshift Haematopoietic_and_lymphoid_tissue COSM1255501 KDM6A c.4176+1G>A p.? Unknown Oesophagus COSM3589852 MECOM c.2186G>A p.G729E Substitution - Missense Skin COSM4925034 L3MBTL3 c.1675T>C p.S559P Substitution - Missense Liver COSM4110079 KDM5C c.631C>T p.R211W Substitution - Missense Stomach COSM3615188 PRDM9 c.230G>A p.R77Q Substitution - Missense Cervix COSM3664321 KIAA1045 c.411G>A p.E137E Substitution - coding silent Liver COSM3715358 ARID1B c.3202C>G p.P1068A Substitution - Missense Upper_aerodigestive_tract COSM3846820 FXR1 c.1407C>G p.L469L Substitution - coding silent Breast COSM1134718 ASH1L c.8633A>G p.E2878G Substitution - Missense Kidney COSM5351021 SETD5_ENST00000402198 c.1047C>A p.F349L Substitution - Missense Lung COSM1629026 RNF17 c.1326A>C p.K442N Substitution - Missense Liver COSM1753989 BRD8 c.671C>T p.S224F Substitution - Missense Urinary_tract COSM4533374 DNMT1 c.1927G>A p.D643N Substitution - Missense Skin COSM4391607 HCFC1 c.3178G>C p.E1060Q Substitution - Missense Breast COSM5731787 HCFC2 c.998G>A p.R333K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4023052 ASH1L c.4165T>G p.S1389A Substitution - Missense Stomach COSM485081 KMT2C c.8887C>T p.R2963C Substitution - Missense Kidney COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1669318 BAZ2B c.2104G>T p.G702C Substitution - Missense Large_intestine COSM1027534 ZMYND8 c.254C>T p.P85L Substitution - Missense Endometrium COSM3657072 KIAA1045 c.738G>C p.E246D Substitution - Missense Skin COSM296785 RBBP7 c.1247C>T p.T416M Substitution - Missense Large_intestine COSM3598850 TET2 c.717C>T p.S239S Substitution - coding silent Skin COSM1744876 CREBBP c.2498_2499delTC p.L833fs*136 Deletion - Frameshift Biliary_tract COSM5376481 ZMYM5 c.587-1G>A p.? Unknown Skin COSM4548013 SMARCA2 c.4370G>A p.R1457H Substitution - Missense Skin COSM5927649 RSF1 c.3336T>G p.S1112R Substitution - Missense Skin COSM4910464 TTF2 c.3292G>T p.A1098S Substitution - Missense Liver COSM1326774 PHF20 c.1024C>T p.P342S Substitution - Missense Ovary COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1486702 PRDM9 c.2075A>G p.Y692C Substitution - Missense Breast COSM999179 UHRF1 c.1731C>T p.Y577Y Substitution - coding silent Endometrium COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Central_nervous_system COSM4123993 WHSC1 c.1246C>T p.P416S Substitution - Missense Stomach COSM3921132 KDM1B c.1157A>G p.Y386C Substitution - Missense Skin COSM355724 BAHCC1 c.7401G>C p.G2467G Substitution - coding silent Lung COSM2725347 SMARCA1 c.3043C>T p.R1015C Substitution - Missense Cervix COSM255965 CREBBP c.1447C>T p.R483* Substitution - Nonsense Central_nervous_system COSM1615723 ADNP c.2291A>G p.Y764C Substitution - Missense Liver COSM3982201 TRRAP c.9222A>C p.E3074D Substitution - Missense Oesophagus COSM4732904 TDRD5 c.1570T>C p.C524R Substitution - Missense Large_intestine COSM5562125 INO80B c.874C>A p.P292T Substitution - Missense Prostate COSM6005454 KDM6A c.? p.Q692fs*37 Frameshift Breast COSM41739 TET2 c.3904A>G p.R1302G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM215940 WHSC1 c.3448A>G p.T1150A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM254671 EP300 c.193C>T p.Q65* Substitution - Nonsense Urinary_tract COSM1363347 MBD6 c.2194delC p.Q734fs*18 Deletion - Frameshift Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5893414 TAF1L c.158G>A p.G53E Substitution - Missense Skin COSM982730 SMARCD2 c.415C>T p.R139W Substitution - Missense Endometrium COSM4981884 GTF3C4 c.2334G>T p.Q778H Substitution - Missense Oesophagus COSM5143400 PHF19 c.1478A>G p.E493G Substitution - Missense Large_intestine COSM5751996 CTCF c.535_536insT p.E179fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1028973 DIDO1 c.4275C>A p.A1425A Substitution - coding silent Endometrium COSM1075250 JARID2 c.2262C>T p.F754F Substitution - coding silent Endometrium COSM1265321 SETBP1 c.2095A>G p.S699G Substitution - Missense Oesophagus COSM4777663 KDM4A c.389_390insC p.I131fs*12 Insertion - Frameshift Prostate COSM5030636 ZMYM3 c.245_246insG p.L85fs*4 Insertion - Frameshift Bone COSM5047520 PRDM9 c.2333G>C p.C778S Substitution - Missense Oesophagus COSM1414099 BRWD1 c.1735C>A p.Q579K Substitution - Missense Large_intestine COSM3776204 KDM3B c.3202A>G p.T1068A Substitution - Missense Urinary_tract COSM1315705 ATRX c.1216C>G p.H406D Substitution - Missense Urinary_tract COSM4639715 PRDM10 c.3185C>T p.T1062M Substitution - Missense Large_intestine COSM5470133 MPHOSPH8 c.2572C>T p.Q858* Substitution - Nonsense Large_intestine COSM702819 GTF3C1 c.2950G>T p.E984* Substitution - Nonsense Lung COSM5632334 ASXL3 c.2339C>G p.A780G Substitution - Missense Oesophagus COSM4997788 AP001011.3_ENST00000320876 c.3713G>A p.W1238* Substitution - Nonsense Pancreas COSM488486 PHF8 c.455-2A>G p.? Unknown Kidney COSM3642818 TRRAP c.8204C>T p.S2735F Substitution - Missense Skin COSM1067699 NIPBL c.5567G>T p.R1856I Substitution - Missense Endometrium COSM415046 EPC1 c.130G>A p.G44R Substitution - Missense Urinary_tract COSM328564 NIPBL c.423T>A p.N141K Substitution - Missense Kidney COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM988408 SETBP1 c.4776C>T p.S1592S Substitution - coding silent Endometrium COSM943594 APOBEC1 c.239T>C p.M80T Substitution - Missense Endometrium COSM4912989 ASH1L c.4547G>C p.R1516P Substitution - Missense Liver COSM5810687 EP300 c.3213A>C p.E1071D Substitution - Missense Liver COSM5054884 CREBBP c.4340C>T p.T1447I Substitution - Missense Stomach COSM1604979 MEN1 c.678A>G p.S226S Substitution - coding silent Liver COSM99742 DNMT3A c.2191_2193delTTC p.F731del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM99742 DNMT3A c.2191_2193delTTC p.F731del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM5420199 RAI1 c.833_834delAG p.Q278fs*110 Deletion - Frameshift Pancreas COSM4898746 NIPBL c.8133C>T p.I2711I Substitution - coding silent Skin COSM100082 KMT2C c.8390_8390delA p.K2797fs*26 Deletion - Frameshift Large_intestine COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5344561 MINA c.808G>A p.D270N Substitution - Missense Large_intestine COSM1716915 ASXL1 c.1157_1160delTGTG p.C387fs*74 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1017594 SP140_ENST00000392045 c.411C>A p.C137* Substitution - Nonsense Endometrium COSM4530258 KAT6B c.1682G>A p.G561E Substitution - Missense Skin COSM4846956 PHF3 c.529G>C p.E177Q Substitution - Missense Cervix COSM1581355 NSD1 c.2170G>A p.E724K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4130750 KDM6B c.2145C>T p.H715H Substitution - coding silent Soft_tissue COSM5573930 HDAC7 c.2305_2306insC p.M769fs*5 Insertion - Frameshift Prostate COSM5417902 KDM1A c.990+5G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1329752 PHF1 c.870G>A p.L290L Substitution - coding silent Ovary COSM1087552 KMT2C c.9919G>A p.V3307M Substitution - Missense Endometrium COSM1048020 ATXN7 c.1485C>T p.G495G Substitution - coding silent Endometrium COSM1233517 ZMYM1 c.2440C>T p.R814C Substitution - Missense Skin COSM979413 KAT2A c.1852G>A p.A618T Substitution - Missense Endometrium COSM144709 PHF6 c.? p.C215F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1747289 PHC1 c.2660A>C p.N887T Substitution - Missense Urinary_tract COSM1008161 BAZ2B c.2227C>T p.R743C Substitution - Missense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4387029 SMARCA4 c.1039C>T p.Q347* Substitution - Nonsense Lung COSM5565773 TRRAP c.10787G>A p.R3596Q Substitution - Missense Prostate COSM3501119 MGA c.9171C>T p.L3057L Substitution - coding silent Skin COSM4060199 SRCAP c.3843C>A p.S1281R Substitution - Missense Stomach COSM1266208 SMARCA2 c.664_666delCAA p.Q238delQ Deletion - In frame Oesophagus COSM1115438 PHF6 c.897G>T p.K299N Substitution - Missense Endometrium COSM2230149 PRDM2 c.4146C>T p.G1382G Substitution - coding silent Large_intestine COSM4450995 ERCC6 c.1011G>A p.K337K Substitution - coding silent Skin COSM1356040 KAT5 c.1585G>A p.D529N Substitution - Missense Large_intestine COSM5772401 MBD5 c.3784G>C p.E1262Q Substitution - Missense Breast COSM1480509 DNMT1 c.414C>T p.P138P Substitution - coding silent Breast COSM4389007 BRWD1 c.1257C>T p.S419S Substitution - coding silent Pancreas COSM3871582 KDM5A c.2155C>T p.R719C Substitution - Missense Skin COSM1158854 EPC1 c.1273T>G p.W425G Substitution - Missense Pancreas COSM4099359 ADNP c.497A>G p.Y166C Substitution - Missense Stomach COSM3798026 MBD5 c.4435G>A p.D1479N Substitution - Missense Urinary_tract COSM4002747 PBRM1 c.3597A>T p.P1199P Substitution - coding silent Soft_tissue COSM5558090 HDAC2 c.1370A>G p.K457R Substitution - Missense Prostate COSM5660057 ZMYND8 c.162G>C p.P54P Substitution - coding silent Soft_tissue COSM4172026 TET2 c.? p.E1323* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM237311 DNMT1 c.4044G>A p.K1348K Substitution - coding silent Prostate COSM4816584 ZBTB4 c.2229G>A p.K743K Substitution - coding silent Cervix COSM5368003 BRWD1 c.6709_6710insA p.I2237fs*8 Insertion - Frameshift Large_intestine COSM320129 EP300 c.5189C>T p.S1730F Substitution - Missense Breast COSM3717765 BAHCC1 c.4720C>T p.R1574C Substitution - Missense Liver COSM3411831 KMT2C c.3026T>G p.V1009G Substitution - Missense Central_nervous_system COSM1604167 KMT2A c.7093C>G p.L2365V Substitution - Missense Liver COSM1717716 RAG2 c.1320A>C p.K440N Substitution - Missense Adrenal_gland COSM1076378 KDM1B c.617G>T p.R206L Substitution - Missense Endometrium COSM281927 ING1 c.505G>A p.D169N Substitution - Missense Large_intestine COSM4134608 NCOA3 c.3563G>A p.R1188Q Substitution - Missense Large_intestine COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1416619 TCF20 c.4021A>G p.I1341V Substitution - Missense Large_intestine COSM5967202 BAP1 c.592_593insG p.E198fs*45 Insertion - Frameshift Salivary_gland COSM1470134 RBBP5 c.511G>A p.A171T Substitution - Missense Prostate COSM51937 SHPRH c.3677T>A p.V1226D Substitution - Missense Kidney COSM1308627 HDAC11 c.617G>A p.R206H Substitution - Missense Large_intestine COSM3656873 TAF1L c.804G>A p.G268G Substitution - coding silent Skin COSM1717429 ARID1A c.? p.S949fs*19 Unknown Biliary_tract COSM4589607 EP400 c.8181_8182insCAGCAGCAG p.Q2748_T2749insQQQ Insertion - In frame Skin COSM142310 ASXL1 c.1927_1928insA p.G643fs*15 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1311015 NSD1 c.7104C>G p.A2368A Substitution - coding silent Urinary_tract COSM1757016 DIDO1 c.3809C>T p.P1270L Substitution - Missense Urinary_tract COSM1453235 TRRAP c.11154G>A p.P3718P Substitution - coding silent Large_intestine COSM1321197 KAT6B c.4680G>T p.Q1560H Substitution - Missense Ovary COSM464992 RERE c.2958A>C p.P986P Substitution - coding silent Kidney COSM3756117 SMCHD1 c.2481A>G p.A827A Substitution - coding silent Large_intestine COSM4524148 SMARCC1 c.1256G>A p.G419E Substitution - Missense Skin COSM133049 EZH2 c.2177A>T p.E726V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52947 IDH2 c.? p.R172? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2819146 PRDM15 c.1068G>A p.A356A Substitution - coding silent Bone COSM5812061 DOT1L c.1738G>T p.E580* Substitution - Nonsense Liver COSM1034568 EP300 c.4512C>T p.F1504F Substitution - coding silent Endometrium COSM4460426 TCF20 c.1165C>T p.L389F Substitution - Missense Skin COSM3097041 ATRX c.4744_4745insA p.T1582fs*19 Insertion - Frameshift Large_intestine COSM4775569 KMT2D c.13114G>A p.V4372I Substitution - Missense Skin COSM976123 RAI1 c.2980C>T p.R994W Substitution - Missense Endometrium COSM3838809 SP100 c.345G>A p.K115K Substitution - coding silent Breast COSM3832334 KMT2C c.13030G>C p.D4344H Substitution - Missense Breast COSM5666318 ACTA1 c.771C>A p.F257L Substitution - Missense Soft_tissue COSM1460904 WDR5 c.641_642insC p.V217fs*42 Insertion - Frameshift Large_intestine COSM1440971 SHPRH c.1371delA p.G458fs*26 Deletion - Frameshift Large_intestine COSM72407 RERE c.3646C>T p.R1216C Substitution - Missense Skin COSM1305686 MBD5 c.930G>C p.M310I Substitution - Missense Urinary_tract COSM4773297 DNMT3B c.655-3C>A p.? Unknown Stomach COSM3989400 CHD3 c.469C>G p.H157D Substitution - Missense Kidney COSM3841169 NCOA5 c.1633G>C p.D545H Substitution - Missense Breast COSM5625987 EYA4 c.802C>G p.Q268E Substitution - Missense Oesophagus COSM1354935 PHRF1 c.472C>A p.R158R Substitution - coding silent Large_intestine COSM3528104 DNMT1 c.2920C>T p.R974W Substitution - Missense Skin COSM1333900 SETDB1 c.3766C>T p.R1256W Substitution - Missense Stomach COSM5983122 CHD9 c.7165G>T p.E2389* Substitution - Nonsense Upper_aerodigestive_tract COSM717298 BAZ2B c.430G>T p.A144S Substitution - Missense Lung COSM375736 EYA2 c.136G>T p.V46L Substitution - Missense Lung COSM5905627 NSD1 c.6010G>A p.D2004N Substitution - Missense Skin COSM3406419 SUV39H1 c.1074C>T p.G358G Substitution - coding silent Central_nervous_system COSM5886523 HDAC9 c.3023-5C>T p.? Unknown Skin COSM1412150 NCOA5 c.1275delC p.T426fs*19 Deletion - Frameshift Large_intestine COSM109256 INOC1 c.2998C>T p.R1000C Substitution - Missense Endometrium COSM970046 SETD1A c.2123G>C p.G708A Substitution - Missense Endometrium COSM3428088 PRDM5 c.1444-1G>A p.? Unknown Large_intestine COSM5476192 DIDO1 c.3750C>T p.D1250D Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5798403 KMT2C c.9505C>T p.P3169S Substitution - Missense Breast COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2738967 NCOR1 c.5497delC p.Q1833fs*17 Deletion - Frameshift Large_intestine COSM2834840 CHD9 c.862C>T p.Q288* Substitution - Nonsense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5913426 KMT2D c.14755G>A p.G4919R Substitution - Missense Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5893304 NCOA2 c.364-6C>T p.? Unknown Skin COSM3932330 SRCAP c.4776T>C p.A1592A Substitution - coding silent Urinary_tract COSM3882236 BAZ1B c.2339G>A p.R780Q Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3509562 CREBBP c.2122C>T p.L708L Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4853558 PHF20 c.1433G>T p.G478V Substitution - Missense Cervix COSM5755682 BRWD1 c.3721G>A p.E1241K Substitution - Missense Large_intestine COSM211664 TET2 c.2161_2162delCA p.H721fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM337257 RAG2 c.306G>C p.E102D Substitution - Missense Lung COSM232031 CHD2 c.4964C>T p.P1655L Substitution - Missense Skin COSM296856 PRMT6 c.264A>G p.E88E Substitution - coding silent Large_intestine COSM5042936 RBBP5 c.745G>A p.V249M Substitution - Missense Liver COSM4170099 TET2 c.2285_2286insC p.Q764fs*5 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1015786 TET2 c.73T>C p.C25R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4124013 WHSC1 c.3611A>G p.D1204G Substitution - Missense Stomach COSM4765004 PHRF1 c.2804_2805insC p.E938fs*5 Insertion - Frameshift Stomach COSM386726 GTF3C1 c.2437G>A p.G813R Substitution - Missense Lung COSM5709660 NSD1 c.6169A>G p.N2057D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4110877 TAF1 c.968A>T p.Q323L Substitution - Missense Stomach COSM4455019 ARID1B c.6365A>G p.Q2122R Substitution - Missense Skin COSM350262 BRWD1 c.1966G>C p.D656H Substitution - Missense Lung COSM1171829 KDM2A c.3423C>G p.I1141M Substitution - Missense Oesophagus COSM4941883 MECP2 c.1396A>T p.M466L Substitution - Missense Liver COSM3670739 PRMT3 c.88G>T p.E30* Substitution - Nonsense Prostate COSM1673716 KMT2C c.1256A>G p.Q419R Substitution - Missense Stomach COSM22585 MEN1 c.1102_1108delGCCAATG p.A368fs*7 Deletion - Frameshift Small_intestine COSM80174 MGMT c.228C>T p.I76I Substitution - coding silent Ovary COSM97042 ASXL1 c.2898_2900delAGG p.G967del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM97020 KMT2C c.2118_2120TAT>CAC p.I707T Substitution - Missense Lung COSM133019 ARID1A c.854_854delG p.G285fs*78 Deletion - Frameshift Stomach COSM118080 SMARCA1 c.2412T>C p.I804I Substitution - coding silent Ovary COSM130413 ARID1A c.2830C>T p.Q944* Substitution - Nonsense Liver COSM181884 RBBP7 c.382C>T p.R128C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM165656 ZBTB33 c.762T>A p.N254K Substitution - Missense Breast COSM233448 SMARCA4 c.3146C>T p.P1049L Substitution - Missense Skin COSM245707 KMT2D c.14548C>T p.R4850C Substitution - Missense Prostate COSM269593 KMT2D c.5200C>T p.Q1734* Substitution - Nonsense Large_intestine COSM322622 PHF21B c.727G>T p.E243* Substitution - Nonsense Lung COSM327857 MYST3 c.3071G>C p.R1024P Substitution - Missense Skin COSM369954 MBD2 c.592G>T p.G198* Substitution - Nonsense Lung COSM379071 IDH2 c.562C>T p.R188W Substitution - Missense Lung COSM395493 ATF7IP c.3446A>T p.Q1149L Substitution - Missense Lung COSM422793 PBRM1 c.2761C>T p.R921* Substitution - Nonsense Kidney COSM433178 ARID4A c.2171A>G p.N724S Substitution - Missense Pancreas COSM446046 FXR1 c.1837G>C p.E613Q Substitution - Missense Breast COSM987389 AP001011.3_ENST00000320876 c.1905C>T p.G635G Substitution - coding silent Endometrium COSM690892 KDM4D c.368G>C p.R123P Substitution - Missense Lung COSM693698 KMT2D c.9268C>T p.Q3090* Substitution - Nonsense Lung COSM1048032 ATXN7 c.2458G>T p.G820C Substitution - Missense Endometrium COSM941553 SMARCC2 c.2596C>T p.L866L Substitution - coding silent Endometrium COSM745869 KMT2C c.5826A>G p.T1942T Substitution - coding silent Lung COSM697916 BAZ1A c.1193C>A p.P398H Substitution - Missense Lung COSM726952 TCF20 c.5682C>T p.G1894G Substitution - coding silent Lung COSM1008151 BAZ2B c.4693C>T p.R1565* Substitution - Nonsense Endometrium COSM1072944 NCOA7 c.2214C>A p.F738L Substitution - Missense Endometrium COSM970049 SETD1A c.2969G>A p.R990Q Substitution - Missense Large_intestine COSM1114787 SMARCA1 c.1852C>T p.R618C Substitution - Missense Endometrium COSM1113687 MSL3 c.235A>C p.N79H Substitution - Missense Endometrium COSM1105696 SET c.90A>C p.E30D Substitution - Missense Endometrium COSM1093615 TRRAP c.4103C>T p.A1368V Substitution - Missense Stomach COSM1082841 ZCWPW1 c.401C>T p.A134V Substitution - Missense Endometrium COSM1253992 HCFC2 c.918_919insA p.N309fs*34 Insertion - Frameshift Stomach COSM1209421 HDAC9 c.1226G>A p.R409Q Substitution - Missense Large_intestine COSM1235526 KMT2A c.10318G>A p.A3440T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1186820 LMNB1 c.298C>A p.R100S Substitution - Missense Lung COSM1308847 ACTL6A c.504G>A p.L168L Substitution - coding silent Urinary_tract COSM1437262 NIPBL c.1801delA p.K603fs*11 Deletion - Frameshift Large_intestine COSM1365696 MPHOSPH8 c.1154C>T p.T385M Substitution - Missense Large_intestine COSM1566684 PBRM1 c.2211A>G p.T737T Substitution - coding silent Soft_tissue COSM1608861 CHD2 c.3066+9A>G p.? Unknown Liver COSM1493499 MORF4L1 c.976T>G p.L326V Substitution - Missense Kidney COSM1622714 STK31 c.733C>T p.H245Y Substitution - Missense Liver COSM1639127 KDM5A c.2034A>G p.A678A Substitution - coding silent Stomach COSM1638333 SRCAP c.3932T>C p.I1311T Substitution - Missense Bone COSM1683028 HCFC1 c.5665C>T p.R1889C Substitution - Missense Large_intestine COSM1673336 TRRAP c.2087G>A p.R696H Substitution - Missense Central_nervous_system COSM1720077 POGZ c.404_405CC>AT p.A135D Substitution - Missense Skin COSM1724163 NSD1 c.5628C>T p.N1876N Substitution - coding silent Skin COSM1660623 ARID2 c.4076A>G p.N1359S Substitution - Missense Kidney COSM1737443 KDM5D c.3326C>T p.A1109V Substitution - Missense Central_nervous_system COSM1754975 ACTL6B c.926C>G p.S309W Substitution - Missense Urinary_tract COSM1749886 RAI1 c.967C>T p.Q323* Substitution - Nonsense Skin COSM1740408 NCOR1 c.5153G>A p.R1718Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2149271 PRDM15 c.467G>A p.G156E Substitution - Missense Central_nervous_system COSM2999520 INO80B c.876G>T p.P292P Substitution - coding silent Upper_aerodigestive_tract COSM3160225 PHF3 c.106G>A p.A36T Substitution - Missense Upper_aerodigestive_tract COSM3138117 PHF15 c.1611G>A p.S537S Substitution - coding silent Large_intestine COSM3374917 WHSC1L1 c.413C>T p.S138L Substitution - Missense Thyroid COSM3421092 CTCF c.1112G>A p.R371H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3441498 BTAF1 c.705T>G p.N235K Substitution - Missense Skin COSM3453564 RSF1 c.306G>A p.W102* Substitution - Nonsense Skin COSM3622182 JARID2 c.2866G>A p.E956K Substitution - Missense Skin COSM3615197 PRDM9 c.579G>A p.E193E Substitution - coding silent Skin COSM3545549 NCOA6 c.5896C>T p.P1966S Substitution - Missense Skin COSM3540827 TRIM28 c.1251A>C p.S417S Substitution - coding silent Skin COSM3514561 NCOR1 c.3055C>T p.P1019S Substitution - Missense Skin COSM3655145 GTF3C4 c.2275C>T p.R759C Substitution - Missense Skin COSM3748049 DOT1L c.2349G>A p.R783R Substitution - coding silent Central_nervous_system COSM3762469 EZH2 c.553G>C p.D185H Substitution - Missense Soft_tissue COSM3772689 SMARCC2 c.2608G>A p.A870T Substitution - Missense Pancreas COSM3779945 TAF1L c.1806C>T p.T602T Substitution - coding silent Urinary_tract COSM3786987 KMT2A c.10535C>T p.P3512L Substitution - Missense Pancreas COSM3786739 HDAC6 c.514G>A p.D172N Substitution - Missense Pancreas COSM3807460 JMJD1C c.6209T>G p.F2070C Substitution - Missense Breast COSM3922569 ING3 c.872C>T p.S291L Substitution - Missense Skin COSM3886926 INOC1 c.3981C>T p.I1327I Substitution - coding silent Skin COSM3975522 NIPBL c.5375C>A p.A1792D Substitution - Missense Central_nervous_system COSM4031009 ARID1A c.3377C>T p.S1126F Substitution - Missense Skin COSM4049841 CHD8 c.6104G>A p.R2035Q Substitution - Missense Stomach COSM4046656 RNF17 c.49C>T p.R17* Substitution - Nonsense Stomach COSM4150215 CBX5 c.171G>T p.L57F Substitution - Missense Ovary COSM4157330 ZBTB38 c.1885C>T p.P629S Substitution - Missense Thyroid COSM4161255 TDRD6 c.599T>G p.V200G Substitution - Missense Upper_aerodigestive_tract COSM4163723 TAF1L c.1293T>C p.D431D Substitution - coding silent Thyroid COSM4168586 CHD9 c.7681C>T p.R2561C Substitution - Missense Peritoneum COSM42076 TET2 c.5554C>T p.Q1852* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4170435 KMT2D c.5854C>T p.Q1952* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4213399 ZMYM5 c.176A>T p.D59V Substitution - Missense Large_intestine COSM4381931 KMT2C c.943G>T p.G315C Substitution - Missense Large_intestine COSM4383958 TET2 c.4816delG p.G1606fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4391356 KMT2C c.754C>T p.H252Y Substitution - Missense Breast COSM4399972 KMT2C c.10582A>C p.N3528H Substitution - Missense Skin COSM4418536 KDM5A c.1023C>G p.V341V Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4501578 EHMT2 c.592C>T p.P198S Substitution - Missense Skin COSM4532456 HDAC4 c.1886G>A p.R629Q Substitution - Missense Skin COSM4457047 GTF3C4 c.1030C>T p.P344S Substitution - Missense Skin COSM4453524 ATAD2 c.3072A>T p.V1024V Substitution - coding silent Skin COSM4440712 TBL1XR1 c.230C>T p.P77L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4717528 PRDM9 c.2175T>A p.C725* Substitution - Nonsense Large_intestine COSM4672078 CHD6 c.644G>T p.G215V Substitution - Missense Large_intestine COSM4610250 SETBP1 c.4220T>G p.I1407S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4632237 KDM4B c.3212A>T p.D1071V Substitution - Missense Large_intestine COSM4791991 PHF15 c.838C>G p.L280V Substitution - Missense Liver COSM4941895 TDRD5 c.1092A>T p.L364L Substitution - coding silent Liver COSM4833737 EP300 c.3807-1G>C p.? Unknown Cervix COSM4824821 CAMKMT c.719G>A p.R240K Substitution - Missense Cervix COSM4991287 DOT1L c.2709C>T p.P903P Substitution - coding silent Skin COSM5001911 ZCWPW2 c.359G>A p.R120H Substitution - Missense Pancreas COSM4982208 SETD1A c.2755G>A p.E919K Substitution - Missense Oesophagus COSM5020165 KAT6B c.3235_3246del12 p.E1086_E1089delEEEE Deletion - In frame Soft_tissue COSM5050208 ERCC6 c.3700C>A p.Q1234K Substitution - Missense Stomach COSM5053533 DMAP1 c.346C>T p.R116C Substitution - Missense Stomach COSM5392041 ACTR5 c.1476C>T p.F492F Substitution - coding silent Skin COSM5359945 KAT6B c.236G>A p.R79H Substitution - Missense Large_intestine COSM5494612 PCNA c.287C>T p.A96V Substitution - Missense Biliary_tract COSM5515892 TAF1 c.4689G>T p.Q1563H Substitution - Missense Biliary_tract COSM5478316 SMARCC2 c.1400A>C p.N467T Substitution - Missense Large_intestine COSM5636025 ATF7IP c.349A>G p.I117V Substitution - Missense Oesophagus COSM5751396 EP300 c.5784G>CG p.M1928fs*145 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM5761481 BAZ1B c.143G>C p.R48P Substitution - Missense Pancreas COSM5769440 AP001011.3_ENST00000320876 c.5291A>C p.Y1764S Substitution - Missense Breast COSM5731040 SETD2 c.3251_3252delAA p.K1084fs*3 Deletion - Frameshift Breast COSM5721980 BAZ2A_ENST00000379441 c.695C>T p.T232I Substitution - Missense Skin COSM5593050 SETBP1 c.1817C>T p.S606F Substitution - Missense Skin COSM5607579 PRDM7 c.436C>T p.P146S Substitution - Missense Skin COSM5694862 KMT2C c.26T>A p.V9E Substitution - Missense Soft_tissue COSM5708598 TBL1XR1 c.688_690delTCT p.S230delS Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM5706834 DNMT1 c.4435G>A p.V1479M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5611426 BAP1 c.504_511delCCACTTTG p.H169fs*11 Deletion - Frameshift Pleura COSM5879675 ASXL1 c.2565_2566insA p.C856fs*8 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5815062 WHSC1 c.2818A>T p.M940L Substitution - Missense Liver COSM5944377 ASXL1 c.1888_1892delCACCA p.H630fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5945131 EZH2 c.392T>A p.I131N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5893829 MGA c.926C>T p.P309L Substitution - Missense Skin COSM5920468 KMT2D c.13294C>T p.P4432S Substitution - Missense Skin COSM5912617 JHDM1D c.2458-7C>T p.? Unknown Skin COSM5961662 UHRF1 c.251T>G p.L84R Substitution - Missense Adrenal_gland COSM5970723 KMT2D c.8910G>C p.L2970L Substitution - coding silent Upper_aerodigestive_tract COSM6000164 PRDM10 c.1255G>A p.E419K Substitution - Missense Prostate COSM52954 DNMT3A c.? p.R882P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM166348 DNMT3A c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM41163 TET2 c.4010_4025del16 p.Y1337fs*21 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM52963 DNMT3A c.? p.R792H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3738496 TET2 c.? p.S393fs*34 Frameshift Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144707 PHF6 c.? p.S158fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM308155 SMARCA1 c.1594C>A p.L532M Substitution - Missense Biliary_tract COSM4423542 NCOA3 c.1942G>A p.E648K Substitution - Missense Central_nervous_system COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM5996753 PHF1 c.536G>C p.G179A Substitution - Missense Prostate COSM2723163 MSL3 c.1373G>A p.R458Q Substitution - Missense Large_intestine COSM4072255 SETBP1 c.4227C>T p.C1409C Substitution - coding silent Stomach COSM4501120 SETD1A c.580C>T p.P194S Substitution - Missense Skin COSM4489000 SMARCC2 c.3419C>T p.A1140V Substitution - Missense Skin COSM4432560 EHMT1 c.1403C>T p.A468V Substitution - Missense Oesophagus COSM3727849 TRIM66 c.1888C>G p.L630V Substitution - Missense Upper_aerodigestive_tract COSM266403 DNMT1 c.1294G>A p.E432K Substitution - Missense Large_intestine COSM4919887 SFMBT2 c.1379A>G p.D460G Substitution - Missense Liver COSM4586206 L3MBTL3 c.258C>T p.A86A Substitution - coding silent Bone COSM3637020 HDAC9 c.1258C>T p.P420S Substitution - Missense Skin COSM3727849 TRIM66 c.1888C>G p.L630V Substitution - Missense Upper_aerodigestive_tract COSM5879921 KDM6A c.663T>G p.Y221* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4810336 KIAA2026_ENST00000399933 c.5733C>T p.L1911L Substitution - coding silent Breast COSM12998 TIF1 c.1208C>A p.T403N Substitution - Missense Lung COSM2188300 TP53BP1 c.3881delG p.G1294fs*68 Deletion - Frameshift Large_intestine COSM5641613 PRMT3 c.271A>T p.K91* Substitution - Nonsense Oesophagus COSM4151286 GTF3C1 c.2338C>A p.H780N Substitution - Missense Kidney COSM3445294 PRDM10 c.2409C>T p.L803L Substitution - coding silent Skin COSM1032624 SMARCB1 c.755G>T p.S252I Substitution - Missense Endometrium COSM5905877 PHF21A c.661C>T p.P221S Substitution - Missense Skin COSM729837 TBL1XR1 c.222T>C p.D74D Substitution - coding silent Lung COSM51419 ARID1A c.3948_3948delG p.M1318fs*163 Deletion - Frameshift Ovary COSM3537409 KDM4B c.2856C>T p.F952F Substitution - coding silent Upper_aerodigestive_tract COSM250087 EZH2 c.? p.D183fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM4914833 PRDM1 c.1753C>T p.H585Y Substitution - Missense Liver COSM423568 TTF2 c.980G>C p.G327A Substitution - Missense Breast COSM4603373 EP400 c.8156_8157insGCA p.Q2748_T2749insQ Insertion - In frame Upper_aerodigestive_tract COSM3733522 NCOR1 c.59A>C p.Y20S Substitution - Missense Central_nervous_system COSM910294 RAD54L c.224G>A p.R75Q Substitution - Missense Endometrium COSM1087643 KMT2C c.2711G>A p.R904Q Substitution - Missense Endometrium COSM5043924 RAI1 c.4871A>G p.H1624R Substitution - Missense Liver COSM4584792 SETD7 c.212A>G p.Q71R Substitution - Missense Bone COSM1399854 EPC2 c.200delA p.E70fs*39 Deletion - Frameshift Pancreas COSM1179107 KMT2C c.851G>A p.R284Q Substitution - Missense Oesophagus COSM1621132 ARID1B c.1062G>T p.P354P Substitution - coding silent Liver COSM5756291 DHX30 c.1394C>T p.T465M Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM4641597 ACTR6 c.1021A>G p.T341A Substitution - Missense Large_intestine COSM326623 TAF1 c.4036C>G p.P1346A Substitution - Missense Lung COSM4831891 UHRF1 c.252C>A p.L84L Substitution - coding silent Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM1179107 KMT2C c.851G>A p.R284Q Substitution - Missense Central_nervous_system COSM5912337 PRDM9 c.301+5G>A p.? Unknown Skin COSM745631 HDAC9 c.918G>A p.M306I Substitution - Missense Lung COSM3694435 HCFC1 c.5481C>T p.S1827S Substitution - coding silent Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5990898 KMT2D c.14201_14202delAG p.E4734fs*2 Deletion - Frameshift Prostate COSM4844424 KAT5 c.766G>A p.D256N Substitution - Missense Cervix COSM5941649 HDAC4 c.718C>T p.P240S Substitution - Missense Skin COSM164201 SCML2 c.93T>C p.D31D Substitution - coding silent Breast COSM248028 TRRAP c.10383G>A p.T3461T Substitution - coding silent Skin COSM4603816 NSD1 c.5090delG p.G1698fs*37 Deletion - Frameshift Upper_aerodigestive_tract COSM5458643 BPTF c.3495A>T p.R1165R Substitution - coding silent Large_intestine COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5759168 TRRAP c.7170G>A p.P2390P Substitution - coding silent Bone COSM4677495 DIDO1 c.6358G>A p.G2120S Substitution - Missense Large_intestine COSM4403759 ASH1L c.3080C>T p.A1027V Substitution - Missense Skin COSM1384121 MYST2 c.966G>T p.E322D Substitution - Missense Large_intestine COSM444188 DIDO1 c.4516G>A p.A1506T Substitution - Missense Large_intestine COSM5893352 EHMT1 c.3259C>T p.R1087C Substitution - Missense Skin COSM5346082 HDGFL1 c.80C>T p.A27V Substitution - Missense Soft_tissue COSM4838106 TDRD6 c.592C>T p.R198W Substitution - Missense Cervix COSM4555430 PRMT8 c.654G>A p.R218R Substitution - coding silent Skin COSM1630066 NCOR1 c.515C>T p.S172L Substitution - Missense Upper_aerodigestive_tract COSM1166639 EZH2 c.2083T>C p.S695P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5347205 ARID1A c.?_?del? p.I1635fs*? Deletion - Frameshift Endometrium COSM4593742 AP001011.3_ENST00000320876 c.35C>G p.A12G Substitution - Missense Upper_aerodigestive_tract COSM4110981 HDAC8 c.1127T>C p.V376A Substitution - Missense Stomach COSM23303 HDAC4 c.346C>T p.Q116* Substitution - Nonsense Skin COSM1457709 CHD7 c.3763C>T p.P1255S Substitution - Missense Large_intestine COSM119903 PRDM9 c.796G>A p.D266N Substitution - Missense Ovary COSM1586701 CHD4 c.5441C>A p.P1814H Substitution - Missense Endometrium COSM5369769 HNF1A c.904C>G p.H302D Substitution - Missense Lung COSM4160077 PRDM13 c.2033A>G p.D678G Substitution - Missense Thyroid COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1121700 PHF16 c.2104G>A p.G702S Substitution - Missense Endometrium COSM1375552 CHD2 c.3725delA p.K1245fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM480376 PBRM1 c.1998T>A p.Y666* Substitution - Nonsense Kidney COSM4664623 ATRX c.5406delA p.K1802fs*10 Deletion - Frameshift Large_intestine COSM4808335 MYST2 c.622G>C p.G208R Substitution - Missense Pancreas COSM681083 PRDM16 c.2861G>A p.R954K Substitution - Missense Lung COSM4031568 PRDM16 c.3198C>T p.D1066D Substitution - coding silent Stomach COSM941786 BAZ2A_ENST00000379441 c.1148G>T p.S383I Substitution - Missense Endometrium COSM5036668 SMARCA2 c.1329A>C p.K443N Substitution - Missense Oesophagus COSM468034 EP400 c.3205C>T p.L1069F Substitution - Missense Kidney COSM1483745 ADNP c.2520T>A p.F840L Substitution - Missense Breast COSM4054838 TP53BP1 c.3055T>A p.S1019T Substitution - Missense Stomach COSM957518 ARID1A c.? p.L2009_L2017del Deletion - In frame Ovary COSM1406739 ATAD2B_ENST00000238789 c.1875G>A p.L625L Substitution - coding silent Large_intestine COSM1727770 PBRM1 c.2228C>T p.S743F Substitution - Missense Liver COSM5801392 AP001011.3_ENST00000320876 c.1302_1319del18 p.R436_D441delRETYPD Deletion - In frame Breast COSM1297148 TRDMT1 c.951G>C p.E317D Substitution - Missense Urinary_tract COSM53001 EZH2 c.729-2delA p.? Unknown Haematopoietic_and_lymphoid_tissue COSM254635 CREBBP c.1258A>T p.K420* Substitution - Nonsense Urinary_tract COSM3440613 KAT6B c.4059G>A p.E1353E Substitution - coding silent Skin COSM4672085 CHD7 c.2819C>T p.P940L Substitution - Missense Prostate COSM5011730 HDAC9 c.2394T>G p.F798L Substitution - Missense Kidney COSM5752545 NCOR1 c.4084C>T p.Q1362* Substitution - Nonsense Breast COSM4855380 POGZ c.4177G>C p.E1393Q Substitution - Missense Cervix COSM745885 KMT2C c.10355C>T p.P3452L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1197530 MYST3 c.5668G>A p.A1890T Substitution - Missense Lung COSM1308230 TCF20 c.720C>T p.S240S Substitution - coding silent Urinary_tract COSM122826 ELP3 c.409G>T p.A137S Substitution - Missense Upper_aerodigestive_tract COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5387935 SMCHD1 c.1198G>A p.E400K Substitution - Missense Skin COSM4040256 EP400 c.4400G>A p.R1467Q Substitution - Missense Stomach COSM41999 TET2 c.2490_2491insA p.Q831fs*15 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5878764 DNMT3A c.2196T>G p.F732L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1240161 SETDB1 c.284T>C p.L95S Substitution - Missense Oesophagus COSM4002522 TBL1XR1 c.766+5A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3773644 KMT2D c.248G>A p.R83Q Substitution - Missense Kidney COSM5564644 NCOA6 c.4954C>T p.R1652W Substitution - Missense Prostate COSM117346 HDAC4 c.578A>C p.H193P Substitution - Missense Central_nervous_system COSM4441685 ZBTB4 c.1501G>T p.G501W Substitution - Missense Large_intestine COSM908367 PRDM16 c.2722C>A p.L908M Substitution - Missense Endometrium COSM4646897 ACTR6 c.1146C>T p.Y382Y Substitution - coding silent Large_intestine COSM5471528 TCF20 c.295G>A p.V99M Substitution - Missense Large_intestine COSM3358839 SFMBT2 c.2529G>A p.K843K Substitution - coding silent Kidney COSM5056833 PRMT1 c.699C>A p.I233I Substitution - coding silent Stomach COSM5061896 PHF3 c.2322C>T p.D774D Substitution - coding silent Stomach COSM600550 STK31 c.2324C>T p.A775V Substitution - Missense Liver COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34192 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4023057 ASH1L c.3388C>T p.P1130S Substitution - Missense Stomach COSM3438392 ERCC6 c.789C>T p.I263I Substitution - coding silent Stomach COSM5367861 MGA c.7726_7727insA p.R2578fs*9 Insertion - Frameshift Large_intestine COSM999147 UHRF1 c.923G>T p.R308I Substitution - Missense Endometrium COSM1216532 KAT6B c.4333C>T p.P1445S Substitution - Missense Large_intestine COSM3772195 SRCAP c.8548G>A p.A2850T Substitution - Missense Pancreas COSM4941293 KMT2C c.12356C>T p.P4119L Substitution - Missense Liver COSM4959342 TAF1 c.220C>T p.L74L Substitution - coding silent Liver COSM3387459 GLYR1 c.254C>T p.A85V Substitution - Missense Pancreas COSM3877553 ING3 c.138C>A p.F46L Substitution - Missense Stomach COSM5549154 CDYL2 c.678G>A p.A226A Substitution - coding silent Prostate COSM3917516 ING2 c.745C>T p.P249S Substitution - Missense Skin COSM3929289 TRRAP c.1961C>T p.T654M Substitution - Missense Central_nervous_system COSM2064410 TDG c.235C>A p.P79T Substitution - Missense Bone COSM5823090 UHRF2 c.1307C>G p.T436R Substitution - Missense Liver COSM133740 DNMT3A c.890G>A p.W297* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM277583 TAF1 c.3662G>A p.R1221Q Substitution - Missense Endometrium COSM1109484 KIAA2026_ENST00000399933 c.223C>T p.L75L Substitution - coding silent Endometrium COSM3732592 NIPBL c.3673G>A p.D1225N Substitution - Missense Stomach COSM272705 FXR1 c.364delA p.N124fs*14 Deletion - Frameshift Large_intestine COSM231549 DNMT3A c.2309C>T p.S770L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716951 ARID1B c.5181delG p.E1728fs*20 Deletion - Frameshift Ovary COSM443686 NCOA6 c.4115G>C p.R1372T Substitution - Missense Breast COSM416757 CHD2 c.4810C>T p.Q1604* Substitution - Nonsense Urinary_tract COSM695474 PHC1 c.1083C>G p.P361P Substitution - coding silent Lung COSM5990079 TET2 c.3951delA p.E1318fs*45 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM895017 PRDM2 c.3108C>T p.P1036P Substitution - coding silent Endometrium COSM306040 AICDA c.383G>A p.R128Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3418419 TDRD5 c.1552C>T p.R518* Substitution - Nonsense Skin COSM3801562 PRDM2 c.4279C>T p.Q1427* Substitution - Nonsense Breast COSM3784824 NSD1 c.4974G>A p.L1658L Substitution - coding silent Pancreas COSM159423 BRWD3 c.5174G>A p.R1725Q Substitution - Missense Breast COSM27530 MSH6 c.? p.Y214Y Substitution - coding silent Central_nervous_system COSM1579444 SMARCD3 c.1078A>T p.S360C Substitution - Missense Ovary COSM328978 KMT2C c.8390delA p.K2797fs*26 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1615671 NCOA5 c.1138G>A p.D380N Substitution - Missense Liver COSM1184902 BRD8 c.2491C>T p.R831* Substitution - Nonsense Large_intestine COSM315108 SETD2 c.5463C>G p.A1821A Substitution - coding silent Lung COSM5634965 TRRAP c.9112A>G p.I3038V Substitution - Missense Oesophagus COSM5019155 CREBBP c.5454G>A p.V1818V Substitution - coding silent Soft_tissue COSM2166336 KAT5 c.222G>T p.K74N Substitution - Missense Large_intestine COSM4771209 BAP1 c.272G>A p.C91Y Substitution - Missense Pleura COSM1453206 TRRAP c.7992C>T p.C2664C Substitution - coding silent Large_intestine COSM5740651 FTO c.346G>A p.V116I Substitution - Missense Small_intestine COSM5752691 KMT2C c.10450C>T p.Q3484* Substitution - Nonsense Breast COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5612048 KAT6B c.5587C>G p.Q1863E Substitution - Missense Adrenal_gland COSM242348 ZMYND8 c.134C>T p.P45L Substitution - Missense Prostate COSM1285698 KDM2B c.1998A>G p.P666P Substitution - coding silent Autonomic_ganglia COSM4789751 BRD1 c.140G>A p.R47H Substitution - Missense Liver COSM5687952 SETD5_ENST00000402198 c.3602G>T p.W1201L Substitution - Missense Soft_tissue COSM4789751 BRD1 c.140G>A p.R47H Substitution - Missense Liver COSM3420726 CHD2 c.3042A>G p.T1014T Substitution - coding silent Large_intestine COSM3827755 NSD1 c.4746C>G p.I1582M Substitution - Missense Breast COSM3488880 ZMYM4 c.538G>A p.E180K Substitution - Missense Skin COSM53009 EZH2 c.2079T>A p.N693K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1745840 JMJD1C c.73G>C p.D25H Substitution - Missense Urinary_tract COSM1614968 SMEK2 c.843T>A p.S281S Substitution - coding silent Liver COSM5885879 PCGF1 c.470_471delTG p.L157fs*1 Deletion - Frameshift Urinary_tract COSM4701407 MECP2 c.165G>A p.E55E Substitution - coding silent Large_intestine COSM1270458 WHSC1 c.1061A>T p.H354L Substitution - Missense Oesophagus COSM3747771 PHF2 c.2990G>C p.S997T Substitution - Missense Thyroid COSM694447 BAZ2A c.4649A>T p.D1550V Substitution - Missense Lung COSM5492599 WDR5 c.600C>T p.T200T Substitution - coding silent Biliary_tract COSM4150054 KDM5A c.4154A>C p.E1385A Substitution - Missense Ovary COSM969260 GTF3C1 c.2401C>T p.R801W Substitution - Missense Large_intestine COSM273280 SMCHD1 c.3557C>T p.A1186V Substitution - Missense Large_intestine COSM1717662 KMT2D c.7964C>T p.A2655V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1290274 CHD8 c.5447A>G p.E1816G Substitution - Missense Large_intestine COSM1288094 SMC1A c.3556G>C p.V1186L Substitution - Missense Autonomic_ganglia COSM268043 CHD7 c.6122C>T p.S2041F Substitution - Missense Large_intestine COSM3176019 PHIP c.381G>A p.A127A Substitution - coding silent Stomach COSM4848257 KDM3A c.2645C>G p.S882C Substitution - Missense Cervix COSM1634826 TDRD6 c.4466C>A p.T1489N Substitution - Missense Liver COSM5506991 SETD8 c.968C>T p.S323F Substitution - Missense Biliary_tract COSM4767351 TET2 c.5119_5125delAGCAGTT p.S1707fs*10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1413008 DIDO1 c.6066C>T p.G2022G Substitution - coding silent Large_intestine COSM5895072 NCOA5 c.148G>A p.D50N Substitution - Missense Skin COSM4485063 AIRE c.288C>T p.I96I Substitution - coding silent Skin COSM3579799 HDAC4 c.1944C>T p.T648T Substitution - coding silent Skin COSM1368989 CHD8 c.4429C>T p.R1477* Substitution - Nonsense Large_intestine COSM5819518 PHF10 c.41C>T p.S14F Substitution - Missense Liver COSM1360194 EP400 c.8785C>T p.Q2929* Substitution - Nonsense Oesophagus COSM5377618 TDRKH c.77G>A p.S26N Substitution - Missense Skin COSM740717 SHPRH c.2950C>A p.P984T Substitution - Missense Lung COSM4574169 PRDM10 c.3428C>A p.T1143N Substitution - Missense Bone COSM310683 DNMT3L c.999C>G p.S333R Substitution - Missense Soft_tissue COSM3723034 PHF2 c.2976C>A p.T992T Substitution - coding silent Kidney COSM727605 RUVBL1 c.1026G>T p.E342D Substitution - Missense Lung COSM437697 KDM6B c.753_761delACCACCACC p.P262_P264delPPP Deletion - In frame Large_intestine COSM4592007 RAI1 c.841_843delCAG p.Q291delQ Deletion - In frame Upper_aerodigestive_tract COSM241437 RNF17 c.1269T>A p.H423Q Substitution - Missense Prostate COSM41909 TET2 c.4072T>G p.C1358G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5622048 TRIM66 c.100C>T p.R34* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1223543 RERE c.3218C>T p.A1073V Substitution - Missense Large_intestine COSM4485629 PHF12 c.2954C>T p.A985V Substitution - Missense Skin COSM52947 IDH2 c.? p.R172? Substitution - Missense Central_nervous_system COSM3660588 DHX30 c.278G>A p.W93* Substitution - Nonsense Liver COSM955455 BAZ1A c.4033G>A p.A1345T Substitution - Missense Endometrium COSM4991228 SMARCA4 c.3145C>T p.P1049S Substitution - Missense Skin COSM2105618 KMT2A c.10528A>G p.T3510A Substitution - Missense Large_intestine COSM4170160 TET2 c.932delT p.L311fs*36 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Central_nervous_system COSM1675527 PCGF6 c.565C>T p.R189* Substitution - Nonsense Large_intestine COSM5614524 KDM6B c.3348G>T p.E1116D Substitution - Missense Lung COSM467083 PHRF1 c.3363G>A p.E1121E Substitution - coding silent Kidney COSM88742 CREBBP c.4459C>T p.H1487Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5025373 ASH1L c.5325C>T p.C1775C Substitution - coding silent Breast COSM1676464 KMT2A c.3185C>A p.S1062Y Substitution - Missense Large_intestine COSM5726473 CHD6 c.5660G>A p.R1887K Substitution - Missense Skin COSM5792694 PRDM2 c.1083G>A p.P361P Substitution - coding silent Breast COSM4639941 SETDB2 c.1652A>T p.N551I Substitution - Missense Large_intestine COSM1602235 PHC2 c.1759-7C>G p.? Unknown Liver COSM4555641 KMT2D c.5820G>A p.P1940P Substitution - coding silent Skin COSM5610835 TET2 c.911C>T p.A304V Substitution - Missense Skin COSM3702866 CHD1 c.1970T>A p.L657Q Substitution - Missense Liver COSM1017662 SP100 c.1754G>T p.R585I Substitution - Missense Endometrium COSM1299454 KMT2D c.1230G>C p.G410G Substitution - coding silent Urinary_tract COSM137455 BRPF3 c.1678G>A p.E560K Substitution - Missense Skin COSM727021 L3MBTL2 c.553C>A p.L185M Substitution - Missense Lung COSM76183 RBBP4 c.245C>A p.A82D Substitution - Missense Ovary COSM5707484 ADNP c.169G>T p.G57* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4517603 DIDO1 c.3813_3814GG>AA p.V1272M Substitution - Missense Skin COSM1734087 ARID1A c.5615C>T p.A1872V Substitution - Missense Pancreas COSM5729249 LMNA c.1052G>A p.R351K Substitution - Missense Skin COSM1329537 PHIP c.3788A>T p.Q1263L Substitution - Missense Ovary COSM1027506 EYA2 c.908G>A p.R303H Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM255184 PHF6 c.673C>T p.R225* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4388600 KMT2C c.162-6C>T p.? Unknown Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1315668 ZMYM3 c.881C>G p.S294* Substitution - Nonsense Urinary_tract COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM209777 IDH1 c.97C>T p.P33S Substitution - Missense Skin COSM3781826 DHX30 c.3208C>T p.R1070W Substitution - Missense Pancreas COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM221072 KMT2D c.12321G>A p.W4107* Substitution - Nonsense Prostate COSM42020 TET2 c.4870C>T p.Q1624* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3388443 SETBP1 c.4367G>A p.R1456H Substitution - Missense Pancreas COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3749492 DOT1L c.4156G>A p.G1386S Substitution - Missense Large_intestine COSM5651884 CREBBP c.4463C>A p.P1488Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5400136 BRPF1 c.2205C>T p.L735L Substitution - coding silent Skin COSM5393734 EP300 c.1378G>T p.D460Y Substitution - Missense Skin COSM1462023 TAF1L c.127G>A p.G43S Substitution - Missense Large_intestine COSM95881 KDM2A c.3126C>G p.T1042T Substitution - coding silent Breast COSM5554234 PRDM14 c.1408T>G p.F470V Substitution - Missense Prostate COSM51224 ARID1A c.5202T>A p.Y1734* Substitution - Nonsense Kidney COSM292394 EHMT2 c.2818G>A p.G940S Substitution - Missense Large_intestine COSM4385701 ASXL1 c.2707_2708insC p.N904fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM260287 CREBBP c.5470G>A p.A1824T Substitution - Missense Lung COSM3734718 MSH6 c.? p.R482* Substitution - Nonsense Central_nervous_system COSM5521073 ARID1B c.5540C>A p.S1847Y Substitution - Missense Biliary_tract COSM4139691 PHF2 c.2194G>A p.D732N Substitution - Missense Lung COSM3501427 TP53BP1 c.2002C>T p.P668S Substitution - Missense Skin COSM3608889 BRD8 c.1419C>T p.L473L Substitution - coding silent Skin COSM3410731 ARID1B c.2786C>T p.A929V Substitution - Missense Central_nervous_system COSM85094 KMT2C c.6601G>C p.D2201H Substitution - Missense Pancreas COSM1469609 BRWD3 c.112G>A p.E38K Substitution - Missense Large_intestine COSM4158095 DHX30 c.164A>T p.N55I Substitution - Missense Thyroid COSM24595 SMARCB1 c.157C>T p.R53* Substitution - Nonsense Central_nervous_system COSM1719987 PHF19 c.800C>T p.A267V Substitution - Missense Skin COSM219133 DNMT3A c.2245C>T p.R749C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4066855 HDAC5 c.2189T>A p.I730N Substitution - Missense Stomach COSM1087562 KMT2C c.8715A>G p.V2905V Substitution - coding silent Endometrium COSM1375534 CHD2 c.514_515insA p.V175fs*18 Insertion - Frameshift Large_intestine COSM1311076 PRDM9 c.1886G>C p.R629T Substitution - Missense Skin COSM1155725 ASXL1 c.? p.(K1302_K1303)L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24899 HNF1A c.493T>A p.W165R Substitution - Missense Liver COSM24911 HNF1A c.686G>A p.R229Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM36205 ASXL1 c.3306G>T p.E1102D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM40171 HDAC9 c.49G>A p.G17S Substitution - Missense Central_nervous_system COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Pancreas COSM51855 SETD2 c.1417A>T p.R473* Substitution - Nonsense Kidney COSM50254 CHD8 c.2048C>T p.A683V Substitution - Missense Large_intestine COSM107494 TRRAP c.2165C>T p.S722F Substitution - Missense Skin COSM98266 ASH1L c.2771C>G p.S924C Substitution - Missense Lung COSM96400 ASXL1 c.1774C>T p.Q592* Substitution - Nonsense Large_intestine COSM146933 ERCC6 c.3689G>C p.R1230P Substitution - Missense Soft_tissue COSM166408 CREBBP c.4471C>A p.Q1491K Substitution - Missense Central_nervous_system COSM165661 ZBTB4 c.2637G>C p.L879F Substitution - Missense Breast COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Endometrium COSM236337 ACTR6 c.303C>A p.N101K Substitution - Missense Autonomic_ganglia COSM253092 RUVBL1 c.514-3delT p.? Unknown Biliary_tract COSM282987 MUM1 c.545G>A p.R182K Substitution - Missense Large_intestine COSM280131 CREBBP c.270C>T p.S90S Substitution - coding silent Large_intestine COSM275028 EYA2 c.844T>G p.F282V Substitution - Missense Large_intestine COSM272394 BRPF1 c.486T>C p.H162H Substitution - coding silent Large_intestine COSM332874 EPC2 c.251A>G p.N84S Substitution - Missense Lung COSM324427 ZMYND11 c.461C>G p.S154* Substitution - Nonsense Lung COSM341610 TDRD7 c.2721A>G p.L907L Substitution - coding silent Lung COSM356258 SUV39H1 c.742T>G p.F248V Substitution - Missense Lung COSM423266 PBRM1 c.773_774insA p.N258fs*6 Insertion - Frameshift Kidney COSM429390 PHRF1 c.3609G>A p.A1203A Substitution - coding silent Thyroid COSM439083 DOT1L c.736G>A p.G246S Substitution - Missense Breast COSM450260 PRDM1 c.353A>G p.E118G Substitution - Missense Breast COSM1536515 RUVBL1 c.979G>A p.V327I Substitution - Missense Large_intestine COSM972485 CTCF c.1070_1071insT p.Y358fs*51 Insertion - Frameshift Endometrium COSM693702 KMT2D c.10423C>T p.Q3475* Substitution - Nonsense Lung COSM686161 KMT2A c.10115C>G p.T3372S Substitution - Missense Lung COSM939502 ARID2 c.2011G>A p.V671I Substitution - Missense Endometrium COSM912760 RERE c.327C>T p.D109D Substitution - coding silent Endometrium COSM896431 GATAD2B c.1453C>A p.L485I Substitution - Missense Endometrium COSM1602134 ARID1A c.666delC p.P224fs*8 Deletion - Frameshift Endometrium COSM1071062 BRD9 c.785C>T p.S262L Substitution - Missense Endometrium COSM1061365 KDM3B c.4483C>T p.R1495* Substitution - Nonsense Endometrium COSM1109480 KIAA2026_ENST00000399933 c.1040C>A p.S347Y Substitution - Missense Large_intestine COSM1112287 MORF4L2 c.533C>T p.A178V Substitution - Missense Endometrium COSM1121698 PHF16 c.1811G>A p.R604H Substitution - Missense Large_intestine COSM1084073 PHF14 c.2396G>A p.R799Q Substitution - Missense Breast COSM1244195 ACTR5 c.1036C>G p.L346V Substitution - Missense Oesophagus COSM1194448 MYST2 c.1119A>C p.K373N Substitution - Missense Lung COSM1169643 KDM5C c.2724_2725insG p.R909fs*9 Insertion - Frameshift Kidney COSM1255494 KDM4B c.240G>A p.S80S Substitution - coding silent Stomach COSM1255499 KDM4D c.95A>C p.D32A Substitution - Missense Oesophagus COSM1319427 SMC1A c.1757G>A p.R586Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1378950 CTCF c.1102C>T p.R368C Substitution - Missense Large_intestine COSM1416942 BRD1 c.77C>A p.P26H Substitution - Missense Large_intestine COSM1407038 NCOA1 c.65C>T p.S22L Substitution - Missense Large_intestine COSM1424462 BAP1 c.814C>T p.Q272* Substitution - Nonsense Large_intestine COSM1456469 ELP3 c.906_906+3delAGTA p.? Unknown Large_intestine COSM1607641 BAZ1A c.2067G>T p.L689L Substitution - coding silent Liver COSM1587026 ZMYM2 c.1575G>A p.M525I Substitution - Missense Endometrium COSM1581242 KMT2C c.7829G>A p.R2610Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1678819 GLYR1 c.1138G>A p.G380R Substitution - Missense Large_intestine COSM1640881 CHD3 c.811C>T p.R271W Substitution - Missense Prostate COSM1716668 ATRX c.2809A>T p.R937* Substitution - Nonsense Central_nervous_system COSM1716414 CTCF c.610_611insA p.T204fs*26 Insertion - Frameshift Endometrium COSM1737358 ORC1 c.437C>T p.T146M Substitution - Missense Central_nervous_system COSM1753423 MINA c.1089G>A p.V363V Substitution - coding silent Urinary_tract COSM1746803 HNF1A c.422A>G p.Q141R Substitution - Missense Urinary_tract COSM1737888 TET2 c.3857_3858insTC p.F1287fs*77 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1724237 PRMT8 c.91T>C p.S31P Substitution - Missense Thyroid COSM2692773 CDYL2 c.721C>T p.R241C Substitution - Missense Large_intestine COSM2741618 ZBTB4 c.1953_1955delTGA p.D651delD Deletion - In frame Upper_aerodigestive_tract COSM2911825 DNMT3A c.862C>T p.R288W Substitution - Missense Large_intestine COSM2909186 HDAC4 c.128C>T p.A43V Substitution - Missense Large_intestine COSM3089659 EHMT1 c.1696G>A p.A566T Substitution - Missense Large_intestine COSM3204040 PHC3 c.2199G>A p.Q733Q Substitution - coding silent Oesophagus COSM3367734 KIAA2026_ENST00000399933 c.2035A>T p.K679* Substitution - Nonsense Kidney COSM3389227 KDM4B c.754A>T p.K252* Substitution - Nonsense Pancreas COSM3427769 ACTR8 c.1817G>A p.R606Q Substitution - Missense Large_intestine COSM3458522 ATF7IP c.599C>T p.S200F Substitution - Missense Skin COSM3463545 BAZ2A c.1378G>A p.A460T Substitution - Missense Skin COSM3445295 PRDM10 c.1736C>T p.S579L Substitution - Missense Skin COSM3620513 L3MBTL3 c.156G>A p.M52I Substitution - Missense Skin COSM3623164 HDGFL1 c.246C>T p.I82I Substitution - coding silent Skin COSM3568266 BAZ2B c.2242C>T p.P748S Substitution - Missense Skin COSM3545560 NCOA6 c.3234C>T p.V1078V Substitution - coding silent Skin COSM3697409 DAXX c.2210C>G p.S737* Substitution - Nonsense Large_intestine COSM3667913 CDYL2 c.252G>T p.P84P Substitution - coding silent Liver COSM3731904 EPC1 c.1243-5_1243-4delTT p.? Unknown Stomach COSM3721602 EED c.1088T>C p.I363T Substitution - Missense Upper_aerodigestive_tract COSM3744105 RNF17 c.174A>C p.L58L Substitution - coding silent Liver COSM3759441 SCML2 c.342C>T p.D114D Substitution - coding silent Central_nervous_system COSM3752792 TRIM66 c.1397A>G p.H466R Substitution - Missense Upper_aerodigestive_tract COSM3752792 TRIM66 c.1397A>G p.H466R Substitution - Missense Upper_aerodigestive_tract COSM3764885 EYA2 c.483G>T p.Q161H Substitution - Missense Central_nervous_system COSM3781150 WHSC1 c.3479G>A p.R1160H Substitution - Missense Pancreas COSM3812826 CHD4 c.3967G>C p.E1323Q Substitution - Missense Breast COSM3830677 TDRD6 c.3785C>T p.S1262F Substitution - Missense Breast COSM3907606 UHRF2 c.1820G>A p.R607H Substitution - Missense Stomach COSM3965562 BRWD3 c.1651-2A>G p.? Unknown Lung COSM3969842 NCOR1 c.3522G>A p.Q1174Q Substitution - coding silent Central_nervous_system COSM4045986 ING1 c.513C>T p.G171G Substitution - coding silent Large_intestine COSM4040233 EP400 c.1388C>T p.T463M Substitution - Missense Stomach COSM4109568 KDM6A c.3917T>C p.L1306S Substitution - Missense Stomach COSM4061195 CHD9 c.1705A>T p.R569W Substitution - Missense Stomach COSM4130749 KDM6B c.807T>C p.A269A Substitution - coding silent Thyroid COSM4129608 NCOR1 c.571G>A p.E191K Substitution - Missense Skin COSM4162018 KMT2C c.2315C>T p.S772L Substitution - Missense Upper_aerodigestive_tract COSM4162018 KMT2C c.2315C>T p.S772L Substitution - Missense Upper_aerodigestive_tract COSM4161255 TDRD6 c.599T>G p.V200G Substitution - Missense Thyroid COSM4170417 KMT2D c.7933C>T p.R2645* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4385533 EZH2 c.1159A>T p.R387W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4385619 NSD1 c.6795_6796insA p.A2268fs*13 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4387470 EP300 c.4343T>C p.F1448S Substitution - Missense Oesophagus COSM4539867 TDRKH c.274G>A p.D92N Substitution - Missense Skin COSM4436590 SCMH1 c.1544G>A p.R515Q Substitution - Missense Oesophagus COSM4538265 BRD1 c.2525G>A p.R842K Substitution - Missense Skin COSM4526446 ELP3 c.1396G>A p.G466S Substitution - Missense Skin COSM4482721 KMT2C c.2634C>T p.A878A Substitution - coding silent Skin COSM4702535 MLL5 c.4743G>A p.V1581V Substitution - coding silent Large_intestine COSM4728262 SMARCA1 c.3105_3106delAG p.R1035fs*9 Deletion - Frameshift Large_intestine COSM4671979 CHD3 c.2422G>A p.A808T Substitution - Missense Large_intestine COSM4663269 ARID2 c.1801C>T p.R601W Substitution - Missense Large_intestine COSM4651937 PRDM11 c.932G>T p.R311I Substitution - Missense Large_intestine COSM4801613 KMT2D c.9630G>T p.Q3210H Substitution - Missense Liver COSM4804487 TAF3 c.114G>T p.L38L Substitution - coding silent Liver COSM4883645 SUV39H1 c.704G>T p.R235L Substitution - Missense Upper_aerodigestive_tract COSM4936410 SMNDC1 c.717A>G p.*239* Substitution - coding silent Liver COSM4908593 DNMT3A c.2204A>C p.Y735S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4923541 SETD3 c.1416A>G p.K472K Substitution - coding silent Liver COSM4839690 CHD3 c.3760C>A p.H1254N Substitution - Missense Cervix COSM4982220 PCGF2 c.375G>C p.L125L Substitution - coding silent Oesophagus COSM4971714 ACTB c.1125C>T p.F375F Substitution - coding silent Central_nervous_system COSM5370553 ZMYND11 c.1646A>G p.H549R Substitution - Missense Skin COSM5374381 SIRT4 c.155C>T p.T52I Substitution - Missense Skin COSM5511479 RBBP4 c.395A>G p.Y132C Substitution - Missense Biliary_tract COSM5427441 DNMT3A c.2516C>A p.S839Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5429490 TDRD6 c.5578C>A p.L1860M Substitution - Missense Oesophagus COSM5433309 KDM5C c.1006G>A p.D336N Substitution - Missense Oesophagus COSM5422344 CHD7 c.8387T>A p.L2796Q Substitution - Missense Prostate COSM5574753 MGA c.6132_6136delGTCAG p.S2045fs*7 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5648063 WHSC1 c.1739C>T p.S580L Substitution - Missense Oesophagus COSM5751666 SUZ12 c.1255_1256insT p.P419fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5723305 KDM5C c.2341C>T p.L781L Substitution - coding silent Skin COSM5561545 SETD4 c.401C>T p.P134L Substitution - Missense Prostate COSM5546654 PHF6 c.341_342insGAGGTCCA p.I115fs*31 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5783573 TAF1 c.1226A>T p.H409L Substitution - Missense Breast COSM5810807 KDM5A c.30G>T p.A10A Substitution - coding silent Liver COSM5815428 GTF3C4 c.1762A>T p.M588L Substitution - Missense Liver COSM5915422 NSD1 c.5147-7C>T p.? Unknown Skin COSM5895145 ATRX c.7072-4T>G p.? Unknown Skin COSM5936518 PRMT1 c.736C>T p.P246S Substitution - Missense Skin COSM5955737 BRD3 c.1968G>A p.S656S Substitution - coding silent Upper_aerodigestive_tract COSM5986634 KDM6A c.3334_3335insTACCCTGT p.V1113fs*10 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5974877 ACTR8 c.589C>G p.P197A Substitution - Missense Upper_aerodigestive_tract COSM5974954 TET2 c.1187C>G p.T396S Substitution - Missense Upper_aerodigestive_tract COSM5999389 PWWP2B c.199G>T p.G67C Substitution - Missense Prostate COSM6011766 NIPBL c.1165G>A p.D389N Substitution - Missense Skin COSM6008964 KMT2D c.239G>A p.R80Q Substitution - Missense Large_intestine COSM5996707 ARID1B c.5480G>A p.R1827H Substitution - Missense Prostate COSM1666863 ARID1A c.? p.E2047* Substitution - Nonsense Urinary_tract COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM5032201 SETD2 c.? p.R1122H Substitution - Missense Lung COSM22625 MEN1 c.? p.Q450* Substitution - Nonsense Pancreas COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM5880301 ATRX c.? p.R2197L Substitution - Missense Central_nervous_system COSM51384 IDH1 c.? p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41881 TET2 c.? p.F1285del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM52830 PBRM1 c.348_352>T p.Q117fs*56 Complex - frameshift Kidney COSM43415 TET2 c.? p.? Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM42078 TET2 c.4076G>C p.R1359P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM86975 IKZF1 c.1-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM42024 TET2 c.2407C>T p.Q803* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41735 TET2 c.4099C>T p.P1367S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM97048 IDH2 c.? p.R140? Unknown Haematopoietic_and_lymphoid_tissue COSM4172573 MSH6 c.? p.T716R Substitution - Missense Skin COSM43517 TET2 c.4266_4266delA p.V1423fs*25 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4564713 BRDT c.1371_1372GG>AA p.E458K Substitution - Missense Skin COSM5775247 INO80B c.196G>C p.V66L Substitution - Missense Breast COSM20582 BRD2 c.1672C>G p.R558G Substitution - Missense Stomach COSM4064343 RAI1 c.2220C>T p.S740S Substitution - coding silent Stomach COSM483946 PHF1 c.835C>T p.P279S Substitution - Missense Kidney COSM2067785 ARID2 c.356_366del11 p.K119fs*31 Deletion - Frameshift Salivary_gland COSM4564443 PHF21A c.1195_1196CC>TT p.P399L Substitution - Missense Skin COSM4188109 KDM5C c.1487G>C p.G496A Substitution - Missense Kidney COSM5452819 MPHOSPH8 c.2017A>G p.K673E Substitution - Missense Large_intestine COSM4493602 BAZ2A c.4292C>T p.P1431L Substitution - Missense Skin COSM3712507 HDAC5 c.2327A>G p.Y776C Substitution - Missense Upper_aerodigestive_tract COSM985380 KDM6B c.1383G>A p.L461L Substitution - coding silent Endometrium COSM5471746 SETD2 c.2036G>A p.G679D Substitution - Missense Large_intestine COSM4064373 RAI1 c.5041A>G p.S1681G Substitution - Missense Stomach COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Soft_tissue COSM4805249 TRRAP c.4780A>G p.I1594V Substitution - Missense Liver COSM691520 TDG c.921C>T p.D307D Substitution - coding silent Lung COSM1258843 NCOA5 c.875G>A p.R292K Substitution - Missense Oesophagus COSM4005987 NSD1 c.6782T>C p.M2261T Substitution - Missense Soft_tissue COSM1715114 ZMYM3 c.2719G>A p.E907K Substitution - Missense Skin COSM5945694 ATRX c.? p.F2113fs*? Frameshift Central_nervous_system COSM1137666 KMT2C c.2872-1G>T p.? Unknown Kidney COSM3744931 SIRT5 c.363A>G p.I121M Substitution - Missense Liver COSM1720387 SETD1A c.3889C>T p.L1297F Substitution - Missense Skin COSM3069640 SMARCC1 c.1586delT p.L529fs*1 Deletion - Frameshift Large_intestine COSM3902426 TDRD7 c.2761G>A p.A921T Substitution - Missense Stomach COSM4012804 PWWP2B c.1684A>G p.M562V Substitution - Missense Stomach COSM417685 GATAD2A c.867G>A p.K289K Substitution - coding silent Urinary_tract COSM4830875 SMARCC2 c.881G>T p.G294V Substitution - Missense Cervix COSM4146856 EP400 c.9230C>A p.A3077E Substitution - Missense Thyroid COSM700638 MGA c.4193C>T p.S1398F Substitution - Missense Lung COSM462385 KDM4C c.389T>C p.V130A Substitution - Missense Cervix COSM3730023 HDAC5 c.2793_2794insC p.I932fs*24 Insertion - Frameshift Large_intestine COSM4236200 ARID1A c.3977C>T p.P1326L Substitution - Missense Large_intestine COSM1676614 KDM5A c.4499A>C p.K1500T Substitution - Missense Large_intestine COSM1635198 KMT2C c.2185A>G p.N729D Substitution - Missense Thyroid COSM5011212 MECOM c.2821A>T p.K941* Substitution - Nonsense Kidney COSM4822875 SETMAR c.1264G>A p.E422K Substitution - Missense Cervix COSM1047082 PBRM1 c.3263G>A p.R1088Q Substitution - Missense Endometrium COSM3766019 RAI1 c.5601T>C p.I1867I Substitution - coding silent Liver COSM1315604 PHF8 c.196C>T p.R66C Substitution - Missense Urinary_tract COSM3378089 SMYD4 c.659C>T p.A220V Substitution - Missense Pancreas COSM1465106 MSL3 c.1055C>T p.T352M Substitution - Missense Large_intestine COSM2188275 TP53BP1 c.5418G>A p.A1806A Substitution - coding silent Large_intestine COSM4457377 KDM3B c.1042C>T p.P348S Substitution - Missense Skin COSM3388270 CHD3 c.559A>T p.T187S Substitution - Missense Pancreas COSM5695844 KDM5D c.1020C>G p.H340Q Substitution - Missense Soft_tissue COSM4799656 ARID2 c.4923-2A>G p.? Unknown Liver COSM1621132 ARID1B c.1062G>T p.P354P Substitution - coding silent Liver COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1384429 MBTD1 c.273G>T p.W91C Substitution - Missense Large_intestine COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM1631888 SP140_ENST00000392045 c.1878G>T p.T626T Substitution - coding silent Liver COSM5894906 GTF3C4 c.1135C>T p.L379F Substitution - Missense Skin COSM3151620 CBX6 c.1212C>T p.G404G Substitution - coding silent Large_intestine COSM41294 IDH1 c.? p.R132C Substitution - Missense Bone COSM20511 BRDT c.266C>T p.A89V Substitution - Missense Stomach COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3738499 TET2 c.? p.Q904* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM306830 KMT2D c.11734_11742GGGCAGGGT>14 p.G3912fs Complex Central_nervous_system COSM4016597 BTAF1 c.1102C>T p.R368C Substitution - Missense Stomach COSM1162010 MPHOSPH8 c.2458-2A>T p.? Unknown Kidney COSM5741432 SMARCA4 c.296G>A p.R99Q Substitution - Missense Small_intestine COSM1130488 SMARCB1 c.606C>A p.D202E Substitution - Missense Prostate COSM4625548 NIPBL c.4834T>C p.Y1612H Substitution - Missense Large_intestine COSM389808 BRDT c.17G>A p.R6Q Substitution - Missense Lung COSM4459679 KMT2D c.10552C>T p.Q3518* Substitution - Nonsense Skin COSM254539 ARID1A c.6381C>G p.I2127M Substitution - Missense Urinary_tract COSM912521 RERE c.1946G>A p.R649H Substitution - Missense Endometrium COSM112104 CHD5 c.1391_1392insC p.L465fs*28 Insertion - Frameshift Ovary COSM294309 DIDO1 c.4153T>C p.Y1385H Substitution - Missense Large_intestine COSM351856 PRDM12 c.630G>T p.L210L Substitution - coding silent Lung COSM3069716 DHX30 c.1602C>A p.F534L Substitution - Missense Large_intestine COSM3974026 UTY c.527T>C p.V176A Substitution - Missense Central_nervous_system COSM4671950 CHD1 c.602delA p.N201fs*48 Deletion - Frameshift Large_intestine COSM5348498 SHPRH c.3732-5_3732-4insT p.? Unknown Liver COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM46449 HNF1A c.326+2_326+3delTA p.? Unknown Liver COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5945697 ATRX c.? p.E2277A Substitution - Missense Central_nervous_system COSM4702909 MORF4L1 c.292G>A p.E98K Substitution - Missense Large_intestine COSM5026709 HDAC9 c.750T>C p.D250D Substitution - coding silent Breast COSM5995541 GABRG1 c.1038A>C p.A346A Substitution - coding silent Prostate COSM913367 MTF2 c.1039C>T p.R347* Substitution - Nonsense Endometrium COSM1401405 ATF2 c.132C>T p.V44V Substitution - coding silent Large_intestine COSM1071543 CHD1 c.4390G>T p.E1464* Substitution - Nonsense Endometrium COSM1051395 SETD7 c.170G>T p.S57I Substitution - Missense Endometrium COSM1581230 KMT2C c.12418C>T p.Q4140* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4411250 DPF1 c.739A>T p.I247F Substitution - Missense Kidney COSM4694865 KDM1B c.214A>G p.R72G Substitution - Missense Large_intestine COSM5723872 STK31 c.948G>A p.E316E Substitution - coding silent Skin COSM2265041 MPHOSPH8 c.2284T>G p.F762V Substitution - Missense Large_intestine COSM5782586 EP400 c.9240G>A p.P3080P Substitution - coding silent Breast COSM1125499 ATRX c.1753G>T p.E585* Substitution - Nonsense Endometrium COSM276731 PHIP c.3838T>G p.L1280V Substitution - Missense Endometrium COSM161461 HCFC2 c.262G>T p.G88W Substitution - Missense Breast COSM404673 PHC1 c.481G>T p.V161L Substitution - Missense Lung COSM4960936 EHMT2 c.931G>A p.E311K Substitution - Missense Liver COSM5496272 CREBBP c.1078C>G p.L360V Substitution - Missense Biliary_tract COSM5922829 KAT6B c.1550C>T p.P517L Substitution - Missense Skin COSM74177 CLOCK c.1706A>T p.Q569L Substitution - Missense Ovary COSM23062 MEN1 c.83_118del36 p.G28_L39del Deletion - In frame Parathyroid COSM3372159 MECP2 c.379C>T p.P127S Substitution - Missense Thyroid COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3353049 TDRD6 c.633C>T p.R211R Substitution - coding silent Large_intestine COSM1103 SMARCB1 c.?_?del? p.?del Deletion - In frame Soft_tissue COSM4798141 MECP2 c.1362G>A p.G454G Substitution - coding silent Liver COSM3662909 SND1 c.1536A>G p.Q512Q Substitution - coding silent Liver COSM164778 TAF1L c.2263C>T p.P755S Substitution - Missense Breast COSM4621285 SETD1B c.2328C>T p.H776H Substitution - coding silent Large_intestine COSM1620933 EYA4 c.1502G>A p.G501E Substitution - Missense Liver COSM3819725 HDAC5 c.468G>A p.E156E Substitution - coding silent Breast COSM4410607 SETD2 c.3457_3458insGAAG p.V1153fs*11 Insertion - Frameshift Kidney COSM4602753 EP400 c.3769G>C p.V1257L Substitution - Missense Upper_aerodigestive_tract COSM1411123 DNMT3B c.1353delG p.L454fs*136 Deletion - Frameshift Large_intestine COSM133169 IDH2 c.? p.D177A Substitution - Missense Central_nervous_system COSM3791492 PRDM11 c.1237G>C p.E413Q Substitution - Missense Urinary_tract COSM3567457 MBD5 c.3124C>T p.P1042S Substitution - Missense Skin COSM46447 HNF1A c.97_103delCCGGGGC p.G34fs*119 Deletion - Frameshift Liver COSM5466446 NIPBL c.4363G>T p.E1455* Substitution - Nonsense Large_intestine COSM1360186 EP400 c.8178A>G p.Q2726Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5802527 PHF21B c.996_997insC p.L333fs*9 Insertion - Frameshift Breast COSM164596 SRCAP c.3374C>G p.S1125C Substitution - Missense Cervix COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM894176 TRIM33 c.2818G>T p.E940* Substitution - Nonsense Endometrium COSM977562 SUZ12 c.1062G>A p.T354T Substitution - coding silent Endometrium COSM249184 BAP1 c.1358_1359delAA p.K453fs*15 Deletion - Frameshift Pancreas COSM4146853 EP400 c.6646A>C p.T2216P Substitution - Missense Upper_aerodigestive_tract COSM34192 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM5724035 BTAF1 c.1257C>T p.V419V Substitution - coding silent Skin COSM3862517 PRDM2 c.2931C>T p.P977P Substitution - coding silent Skin COSM3061738 TCF20 c.5173delT p.Y1725fs*157 Deletion - Frameshift Large_intestine COSM1103000 TDRD7 c.35G>A p.R12Q Substitution - Missense Soft_tissue COSM1492053 HDAC1 c.1162G>A p.A388T Substitution - Missense Lung COSM1296223 ARID1A c.3283C>T p.Q1095* Substitution - Nonsense Pancreas COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1240865 ASXL3 c.2055G>T p.K685N Substitution - Missense Oesophagus COSM258058 SMARCA1 c.443G>A p.R148H Substitution - Missense Large_intestine COSM1220395 PHIP c.2537G>T p.S846I Substitution - Missense Large_intestine COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM168089 KMT2D c.6251delC p.P2084fs*30 Deletion - Frameshift Large_intestine COSM3675052 CHRAC1 c.361G>C p.D121H Substitution - Missense Prostate COSM4031512 PRDM16 c.1169C>T p.T390M Substitution - Missense Stomach COSM468037 EP400 c.8226A>G p.Q2742Q Substitution - coding silent Breast COSM253711 DNMT1 c.860G>A p.R287K Substitution - Missense Urinary_tract COSM5126807 CHD2 c.2842C>T p.R948W Substitution - Missense Large_intestine COSM6001453 YY1 c.745C>T p.P249S Substitution - Missense Prostate COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5620939 HDAC6 c.1855G>A p.G619S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5741260 MBD1 c.765G>T p.W255C Substitution - Missense Small_intestine COSM4720062 RAI1 c.2253delG p.D753fs*66 Deletion - Frameshift Large_intestine COSM1004 SMARCB1 c.646G>T p.E216* Substitution - Nonsense Soft_tissue COSM4624315 DIDO1 c.175C>T p.L59L Substitution - coding silent Large_intestine COSM241569 SETBP1 c.1589G>A p.R530Q Substitution - Missense Urinary_tract COSM4797873 BAHCC1 c.1249G>A p.A417T Substitution - Missense Liver COSM5549730 ZGPAT c.1508G>A p.R503H Substitution - Missense Prostate COSM3619177 PRDM1 c.666C>T p.S222S Substitution - coding silent Skin COSM3802186 LMNA c.250G>A p.E84K Substitution - Missense Breast COSM4015110 JMJD1C c.3838G>A p.A1280T Substitution - Missense Stomach COSM51230 ARID1A c.898_899insCGTC p.P302fs*99 Insertion - Frameshift Ovary COSM4849829 NIPBL c.7318T>A p.Y2440N Substitution - Missense Cervix COSM3660231 ZBTB38 c.1174A>G p.I392V Substitution - Missense Liver COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4605690 KMT2D c.5419C>T p.Q1807* Substitution - Nonsense Upper_aerodigestive_tract COSM1007213 MBD5 c.421C>T p.R141W Substitution - Missense Endometrium COSM6005840 NCOA1 c.4319C>A p.T1440N Substitution - Missense Small_intestine COSM3833176 BAZ1B c.1311G>A p.Q437Q Substitution - coding silent Breast COSM5351711 TET2 c.3609C>A p.S1203R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3524749 AP001011.3_ENST00000320876 c.4108C>T p.R1370C Substitution - Missense Breast COSM1179497 MYST2 c.1687C>T p.Q563* Substitution - Nonsense Prostate COSM4490676 MBD5 c.3677C>T p.P1226L Substitution - Missense Skin COSM3636509 KMT2C c.5209A>G p.K1737E Substitution - Missense Skin COSM4601098 NCOR1 c.4442C>A p.A1481E Substitution - Missense Upper_aerodigestive_tract COSM1467013 RBBP7 c.1159delT p.W387fs*>39 Deletion - Frameshift Large_intestine COSM1179669 KMT2C c.943G>A p.G315S Substitution - Missense Central_nervous_system COSM100051 PRDM1 c.1_2370del2370 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM97044 ASXL1 c.2395G>T p.D799Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM158743 PHF6 c.860G>T p.G287V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1066314 NSD1 c.7489C>A p.L2497M Substitution - Missense Endometrium COSM5516070 CBX2 c.359C>G p.S120* Substitution - Nonsense Biliary_tract COSM4383960 TET2 c.4862delT p.L1622fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1026860 CHD6 c.4759G>A p.G1587S Substitution - Missense Endometrium COSM1253991 HCFC1 c.3622G>A p.A1208T Substitution - Missense Oesophagus COSM1107170 EHMT1 c.745G>T p.V249F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3736469 MYST3 c.401T>C p.L134S Substitution - Missense Large_intestine COSM5794886 DHX30 c.2516C>T p.A839V Substitution - Missense Breast COSM470683 TP53BP1 c.2600C>A p.S867* Substitution - Nonsense Kidney COSM4765246 MBD6 c.2338_2339insG p.A783fs*10 Insertion - Frameshift Stomach COSM5996780 PHIP c.4002A>G p.Q1334Q Substitution - coding silent Prostate COSM1752297 IDH1 c.960G>C p.Q320H Substitution - Missense Urinary_tract COSM941731 BAZ2A c.4780G>A p.D1594N Substitution - Missense Endometrium COSM4721059 RERE c.73_74insGA p.K25fs*71 Insertion - Frameshift Large_intestine COSM895914 TDRKH c.1633+1G>A p.? Unknown Endometrium COSM4690799 HNF1A c.1879G>C p.A627P Substitution - Missense Large_intestine COSM5707444 CHD6 c.2057A>T p.D686V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5727837 MECP2 c.995G>A p.S332N Substitution - Missense Skin COSM1026863 CHD6 c.4419G>T p.K1473N Substitution - Missense Endometrium COSM1748621 RERE c.4195G>A p.E1399K Substitution - Missense Urinary_tract COSM6004375 NCOA6 c.5490G>T p.K1830N Substitution - Missense Prostate COSM4616068 PRDM2 c.862_864delGAG p.E288delE Deletion - In frame Large_intestine COSM4643052 SHPRH c.2408C>T p.A803V Substitution - Missense Large_intestine COSM4008362 DMAP1 c.497G>A p.R166H Substitution - Missense Stomach COSM3296123 MBD5 c.1224A>T p.P408P Substitution - coding silent Upper_aerodigestive_tract COSM307326 BAZ2B c.550A>G p.I184V Substitution - Missense Soft_tissue COSM4695039 KDM6A c.2845C>T p.R949C Substitution - Missense Large_intestine COSM5558575 HDAC2 c.419T>C p.L140S Substitution - Missense Prostate COSM4625107 SETD2 c.3470C>T p.S1157L Substitution - Missense Large_intestine COSM5021996 SMARCA4 c.2850C>T p.T950T Substitution - coding silent Bone COSM4509652 SETD1A c.813C>A p.T271T Substitution - coding silent Skin COSM3712477 BAHCC1 c.4742G>T p.R1581L Substitution - Missense Upper_aerodigestive_tract COSM4140035 AP001011.3_ENST00000320876 c.1463+5G>T p.? Unknown Ovary COSM1439159 BRD9 c.584C>T p.T195M Substitution - Missense Oesophagus COSM213899 NCOA1 c.4069A>C p.N1357H Substitution - Missense Breast COSM37029 EZH2 c.1937A>C p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4767395 ATRX c.3786_3788delTGA p.D1264del Deletion - In frame Adrenal_gland COSM419075 SMYD1 c.341T>G p.V114G Substitution - Missense Upper_aerodigestive_tract COSM4591023 KMT2C c.871C>T p.L291F Substitution - Missense Upper_aerodigestive_tract COSM96347 ASXL1 c.? p.G646fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM5999732 MEN1 c.1619C>G p.P540R Substitution - Missense Prostate COSM3725426 ING4 c.522A>C p.S174S Substitution - coding silent Lung COSM5383222 BAHD1 c.919C>T p.P307S Substitution - Missense Skin COSM3411150 TDRD6 c.2978C>T p.T993M Substitution - Missense Central_nervous_system COSM979605 EZH1 c.484G>T p.E162* Substitution - Nonsense Endometrium COSM3896563 ATAD2 c.792T>A p.D264E Substitution - Missense Stomach COSM551917 YY1 c.1154G>T p.C385F Substitution - Missense Skin COSM704394 PRMT7 c.1816G>C p.G606R Substitution - Missense Lung COSM5822758 KMT2C c.1269A>G p.K423K Substitution - coding silent Liver COSM5383266 MGA c.1154C>T p.P385L Substitution - Missense Skin COSM5491199 GATAD2B c.24T>A p.A8A Substitution - coding silent Biliary_tract COSM13446 SMARCB1 c.363_628del266 p.? Deletion - Frameshift Soft_tissue COSM349198 BRD7 c.963C>T p.I321I Substitution - coding silent Lung COSM170344 ASH1L c.6217C>T p.R2073C Substitution - Missense Large_intestine COSM1316076 CREBBP c.4303G>A p.D1435N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4587779 PHF20L1 c.644G>C p.G215A Substitution - Missense Bone COSM4663215 ARID1A c.544G>A p.A182T Substitution - Missense Large_intestine COSM4663891 ASXL1 c.1732C>T p.R578C Substitution - Missense Large_intestine COSM1757286 TAF1 c.3152C>T p.S1051L Substitution - Missense Urinary_tract COSM1078484 BRPF3 c.832G>A p.A278T Substitution - Missense Endometrium COSM4134978 AIRE c.99T>C p.A33A Substitution - coding silent Thyroid COSM600208 KMT2C c.5216C>A p.P1739H Substitution - Missense Lung COSM5567499 SMCHD1 c.3244T>C p.S1082P Substitution - Missense Prostate COSM1616075 BRWD1 c.864delC p.Y288fs*1 Deletion - Frameshift Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1353900 PHF21A c.1817delC p.P606fs*>29 Deletion - Frameshift Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5582850 TRIM24 c.2423C>T p.S808F Substitution - Missense Skin COSM5370101 TDRD1 c.165G>A p.L55L Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5387630 BAHCC1 c.3794_3795CC>TT p.A1265V Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1716686 ATRX c.3734C>G p.S1245* Substitution - Nonsense Central_nervous_system COSM907701 ARID1A c.2348delC p.T783fs*50 Deletion - Frameshift Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3734184 NCOA1 c.1964A>C p.K655T Substitution - Missense Pancreas COSM4609825 ATAD2 c.2897_2898ins32 p.E966fs*3 Insertion - Frameshift Adrenal_gland COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5568383 CDYL2 c.1394G>A p.S465N Substitution - Missense Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3845400 ATRX c.3739G>C p.D1247H Substitution - Missense Breast COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM5575904 SMARCA4 c.3013C>T p.R1005* Substitution - Nonsense Stomach COSM5599760 KDM6B c.3860C>T p.S1287F Substitution - Missense Skin COSM4031017 ARID1A c.4381C>T p.R1461* Substitution - Nonsense Endometrium COSM4615765 HDAC2 c.33_34insA p.V12fs*8 Insertion - Frameshift Large_intestine COSM4170099 TET2 c.2285_2286insC p.Q764fs*5 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5934004 DNMT3B c.182C>T p.S61F Substitution - Missense Skin COSM4833167 SETDB1 c.1125C>T p.V375V Substitution - coding silent Cervix COSM2758212 NCOA6 c.1464C>T p.N488N Substitution - coding silent Upper_aerodigestive_tract COSM3124688 ZBTB38 c.3284A>G p.H1095R Substitution - Missense Central_nervous_system COSM4923844 PHC1 c.1067C>A p.T356K Substitution - Missense Liver COSM4845058 CHD6 c.2463G>A p.Q821Q Substitution - coding silent Cervix COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4446774 PBRM1 c.4066A>G p.M1356V Substitution - Missense Skin COSM734381 GABRG1 c.1387C>A p.L463I Substitution - Missense Lung COSM3596282 SFMBT1 c.101T>C p.V34A Substitution - Missense Skin COSM4468194 KDM4B c.1530C>T p.P510P Substitution - coding silent Skin COSM1167991 ARID2 c.890C>T p.S297F Substitution - Missense Skin COSM1746980 ARID2 c.4531G>T p.E1511* Substitution - Nonsense Urinary_tract COSM690314 SUV420H1 c.2618C>A p.S873* Substitution - Nonsense Lung COSM969271 GTF3C1 c.961A>G p.K321E Substitution - Missense Endometrium COSM132968 ASXL1 c.? p.E635fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM1079911 TDRD6 c.5043T>A p.I1681I Substitution - coding silent Endometrium COSM1610975 BAHCC1 c.5908G>C p.A1970P Substitution - Missense Liver COSM3845083 PHF8 c.1435A>G p.M479V Substitution - Missense Breast COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Prostate COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM34039 IDH2 c.514A>T p.R172W Substitution - Missense Central_nervous_system COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Skin COSM30339 KDM5C c.3385_3386insT p.D1129fs*75 Insertion - Frameshift Kidney COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Endometrium COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28774 KDM6A c.3945_3946insA p.E1316fs*17 Insertion - Frameshift Large_intestine COSM28791 KDM6A c.3014delT p.L1005fs*43 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Pancreas COSM75197 L3MBTL3 c.937G>A p.A313T Substitution - Missense Large_intestine COSM73762 ATAT1 c.742G>C p.E248Q Substitution - Missense Ovary COSM97176 PRDM1 c.125_128delAGGC p.Q42fs*23 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM137213 EYA2 c.377C>T p.S126L Substitution - Missense Skin COSM211619 TET2 c.3619G>T p.E1207* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM213643 SMYD5 c.759-1G>C p.? Unknown Breast COSM223686 BAZ1A c.4048G>A p.E1350K Substitution - Missense Skin COSM235525 TRRAP c.7365C>T p.R2455R Substitution - coding silent Skin COSM276244 MYST3 c.2915G>A p.R972H Substitution - Missense Large_intestine COSM289316 SP110 c.1200C>T p.D400D Substitution - coding silent Large_intestine COSM310891 EP400 c.2969G>A p.R990H Substitution - Missense Large_intestine COSM303325 SUZ12 c.1794+1G>C p.? Unknown Central_nervous_system COSM321916 MYST2 c.1765G>T p.A589S Substitution - Missense Lung COSM342249 ASXL3 c.1876G>A p.G626S Substitution - Missense Lung COSM385518 TAF1L c.58A>C p.M20L Substitution - Missense Lung COSM392268 SMARCC1 c.2441_2444delAAAA p.K814fs*10 Deletion - Frameshift Lung COSM421405 BAG6 c.2418C>T p.I806I Substitution - coding silent Urinary_tract COSM401775 SETBP1 c.1927A>G p.M643V Substitution - Missense Lung COSM422745 PBRM1 c.172C>T p.R58* Substitution - Nonsense Large_intestine COSM433907 TP53BP1 c.1043G>A p.R348K Substitution - Missense Breast COSM988952 MBD2 c.889G>T p.E297* Substitution - Nonsense Large_intestine COSM693909 ARID2 c.1467C>T p.V489V Substitution - coding silent Lung COSM1047088 PBRM1 c.2613T>G p.F871L Substitution - Missense Endometrium COSM1049750 TET2 c.1649G>A p.R550Q Substitution - Missense Endometrium COSM941788 BAZ2A c.1256G>T p.S419I Substitution - Missense Endometrium COSM1049104 MINA c.346G>T p.D116Y Substitution - Missense Endometrium COSM1027966 ADNP c.2476T>G p.F826V Substitution - Missense Endometrium COSM709184 L3MBTL4 c.1606C>T p.R536W Substitution - Missense Skin COSM699054 UBR7 c.162G>A p.K54K Substitution - coding silent Lung COSM741078 PHF10 c.1119T>C p.F373F Substitution - coding silent Lung COSM720949 HDAC4 c.721C>T p.L241F Substitution - Missense Lung COSM958753 SMEK1 c.1111-1G>T p.? Unknown Endometrium COSM990454 DNMT1 c.1137G>A p.Q379Q Substitution - coding silent Endometrium COSM1076152 PHF10 c.1209G>A p.R403R Substitution - coding silent Endometrium COSM1109585 KDM4C c.1320G>T p.V440V Substitution - coding silent Endometrium COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4440707 TBL1XR1 c.596G>A p.S199N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2270980 ASXL1 c.3605_3606insA p.N1203fs*9 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1183762 ASH1L c.7262G>A p.R2421Q Substitution - Missense Large_intestine COSM1221879 PRDM15 c.2404G>A p.G802S Substitution - Missense Large_intestine COSM1225669 SHPRH c.2192T>C p.V731A Substitution - Missense Large_intestine COSM1162076 KDM5D c.2434G>T p.V812L Substitution - Missense Kidney COSM1406124 SP100 c.10delG p.G5fs*4 Deletion - Frameshift Large_intestine COSM1414083 BRWD1 c.5701_5702insA p.R1901fs*6 Insertion - Frameshift Large_intestine COSM1351675 KMT2A c.11456G>A p.R3819H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1473866 HDAC1 c.1335_1336delAG p.E446fs*2 Deletion - Frameshift Breast COSM1609877 NCOR1 c.1714C>T p.R572* Substitution - Nonsense Stomach COSM1617698 DHX30 c.2993G>A p.C998Y Substitution - Missense Liver COSM1636904 BTAF1 c.3310-1G>T p.? Unknown Bone COSM1684491 NCOR1 c.1763delC p.M589fs*1 Deletion - Frameshift Lung COSM1706553 RNF17 c.631G>A p.E211K Substitution - Missense Skin COSM1716678 ATRX c.3147_3148delAA p.I1049fs*3 Deletion - Frameshift Central_nervous_system COSM1700819 KDM4C c.640C>T p.P214S Substitution - Missense Skin COSM1704961 CHD4 c.4622C>T p.P1541L Substitution - Missense Skin COSM1699411 TRIM24 c.1315C>T p.P439S Substitution - Missense Skin COSM1735062 ZGPAT c.773C>T p.A258V Substitution - Missense Pancreas COSM2080032 ZMYM6 c.1177A>G p.T393A Substitution - Missense Large_intestine COSM2188333 TP53BP1 c.1128C>T p.I376I Substitution - coding silent Skin COSM2777639 KIAA2026_ENST00000399933 c.545G>A p.G182D Substitution - Missense Large_intestine COSM2802818 CBX4 c.1452delC p.E486fs*8 Deletion - Frameshift Large_intestine COSM2855522 PHF10 c.414T>C p.F138F Substitution - coding silent Large_intestine COSM3203641 MECOM c.1223C>T p.T408I Substitution - Missense Large_intestine COSM3394235 CDYL c.1519C>T p.R507W Substitution - Missense Pancreas COSM3389676 DNMT3B c.1636C>A p.L546M Substitution - Missense Pancreas COSM3380608 SMARCC1 c.2051A>G p.Q684R Substitution - Missense Pancreas COSM3391911 UTY c.2822A>G p.N941S Substitution - Missense Pancreas COSM3405791 MORF4L2 c.185G>A p.R62H Substitution - Missense Central_nervous_system COSM3488224 PRDM16 c.1948G>A p.G650R Substitution - Missense Skin COSM3423807 DIDO1 c.3914C>T p.S1305L Substitution - Missense Stomach COSM3416636 EP400 c.5913C>T p.C1971C Substitution - coding silent Large_intestine COSM3475155 LMNA c.906C>T p.L302L Substitution - coding silent Skin COSM3592249 ZCWPW2 c.117G>A p.L39L Substitution - coding silent Skin COSM3561980 HDAC6 c.2460C>T p.I820I Substitution - coding silent Skin COSM3525452 ASXL3 c.2149C>T p.P717S Substitution - Missense Skin COSM3727930 ARID1B c.4891_4892insG p.A1631fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3731383 SMEK2 c.1067_1068insT p.K357fs*13 Insertion - Frameshift Stomach COSM3770310 TRRAP c.4051A>T p.T1351S Substitution - Missense Soft_tissue COSM3784511 BAG6 c.3332G>C p.S1111T Substitution - Missense Pancreas COSM3938352 TRIM28 c.2194-2A>T p.? Unknown Oesophagus COSM3909815 SP100 c.805C>T p.P269S Substitution - Missense Skin COSM3875081 PHF3 c.1848T>A p.T616T Substitution - coding silent Stomach COSM3904549 SET c.702A>T p.E234D Substitution - Missense Stomach COSM3900878 CHD7 c.6630G>T p.E2210D Substitution - Missense Stomach COSM3871640 ARID2 c.1917C>T p.I639I Substitution - coding silent Skin COSM3945854 INTS12 c.1336A>T p.K446* Substitution - Nonsense Lung COSM3982900 KIAA2026_ENST00000399933 c.5347C>T p.R1783W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4031593 PHC2 c.1722A>C p.E574D Substitution - Missense Stomach COSM4018343 KMT2A c.10834G>A p.A3612T Substitution - Missense Stomach COSM4043520 SMARCC2 c.2508G>T p.K836N Substitution - Missense Stomach COSM3996920 TDRKH c.1332T>C p.H444H Substitution - coding silent Breast COSM4104155 CBX6 c.918C>T p.S306S Substitution - coding silent Stomach COSM4068643 SMARCD2 c.724T>C p.C242R Substitution - Missense Stomach COSM4161994 KMT2C c.2917A>G p.R973G Substitution - Missense Thyroid COSM4169201 SMEK2 c.1628G>A p.R543Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4170112 TET2 c.1802delC p.S602fs*37 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4186009 SETD5_ENST00000402198 c.2681C>G p.S894C Substitution - Missense Kidney COSM4383906 TET2 c.3535A>G p.R1179G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4495413 DNMT1 c.4489C>T p.P1497S Substitution - Missense Skin COSM4590278 KDM2A c.310A>G p.S104G Substitution - Missense Soft_tissue COSM4410866 KDM2B c.2805delT p.H936fs*4 Deletion - Frameshift Kidney COSM4702520 KMT2C c.717C>T p.I239I Substitution - coding silent Large_intestine COSM4717443 PRDM10 c.2397C>T p.S799S Substitution - coding silent Large_intestine COSM4767610 MEN1 c.472G>A p.A158T Substitution - Missense Biliary_tract COSM4735454 TP53BP1 c.2130delA p.E711fs*12 Deletion - Frameshift Large_intestine COSM4725319 SFMBT1 c.1501T>A p.C501S Substitution - Missense Large_intestine COSM4742933 ZMYM5 c.176_178delATG p.D59delD Deletion - In frame Large_intestine COSM4702406 KMT2D c.15670_15671insA p.I5224fs*18 Insertion - Frameshift Large_intestine COSM4609233 EHMT2 c.2221G>T p.G741C Substitution - Missense Adrenal_gland COSM4653947 NSD1 c.3058A>G p.N1020D Substitution - Missense Large_intestine COSM4613263 PHRF1 c.3261_3266delGTCCCG p.R1091_S1092delRS Deletion - In frame Large_intestine COSM4648149 RERE c.4277A>G p.H1426R Substitution - Missense Large_intestine COSM4771401 KMT2D c.7597C>G p.P2533A Substitution - Missense Breast COSM4615268 ZBTB4 c.2057delG p.G686fs*53 Deletion - Frameshift Large_intestine COSM4789789 SP140_ENST00000392045 c.1476G>T p.L492F Substitution - Missense Liver COSM4885894 HDAC11 c.986C>A p.S329* Substitution - Nonsense Upper_aerodigestive_tract COSM4920404 GATAD2B c.1254T>C p.F418F Substitution - coding silent Liver COSM4996349 SMARCC1 c.2927G>C p.G976A Substitution - Missense Upper_aerodigestive_tract COSM4984989 HNF1A c.1460G>A p.S487N Substitution - Missense Soft_tissue COSM4986884 MBD6 c.2686C>T p.R896C Substitution - Missense Soft_tissue COSM5019860 MSH6 c.2253T>C p.N751N Substitution - coding silent Soft_tissue COSM5018159 KDM6B c.2374_2376delCCA p.P798delP Deletion - In frame Soft_tissue COSM5053997 ARID4A c.554C>T p.T185M Substitution - Missense Stomach COSM5054796 GTF3C1 c.620G>T p.G207V Substitution - Missense Stomach COSM5064297 MSL3 c.565T>C p.Y189H Substitution - Missense Stomach COSM5403417 NIPBL c.5700G>A p.E1900E Substitution - coding silent Skin COSM5368588 KDM2A c.1021G>C p.V341L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5392541 C20orf20 c.267G>A p.A89A Substitution - coding silent Skin COSM5415243 KMT2C c.11776C>A p.L3926I Substitution - Missense Endometrium COSM5407251 STK31 c.620G>A p.G207E Substitution - Missense Skin COSM5520026 PBRM1 c.714G>A p.Q238Q Substitution - coding silent Biliary_tract COSM5575016 TBL1XR1 c.569A>T p.D190V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5654920 RNF17 c.289T>C p.S97P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5723097 DNMT3B c.2215C>T p.L739L Substitution - coding silent Skin COSM5723508 TDRD5 c.2092C>T p.Q698* Substitution - Nonsense Skin COSM5597503 RNF17 c.707A>T p.N236I Substitution - Missense Skin COSM5606345 BAZ1A c.343C>T p.R115* Substitution - Nonsense Skin COSM5551436 CHD8 c.3108T>G p.D1036E Substitution - Missense Prostate COSM5774297 TCF19 c.100G>T p.G34C Substitution - Missense Breast COSM5915295 GABRG1 c.668C>T p.P223L Substitution - Missense Skin COSM5917355 PRDM16 c.140C>T p.P47L Substitution - Missense Skin COSM5984381 PRDM16 c.772G>A p.A258T Substitution - Missense Upper_aerodigestive_tract COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Pancreas COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM5574264 IDH1 c.? p.G131D Substitution - Missense Bone COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM957513 ARID2 c.1_5508del5508 p.0? Whole gene deletion Liver COSM1167807 NSD1 c.3468_3469insA p.R1159fs*11 Insertion - Frameshift Skin COSM3588184 ZBTB38 c.1009G>A p.V337I Substitution - Missense Skin COSM3401297 BAZ1A c.344G>A p.R115Q Substitution - Missense Central_nervous_system COSM2007377 KMT2D c.1940delC p.P647fs*38 Deletion - Frameshift Large_intestine COSM2853454 BAP1 c.1821G>A p.T607T Substitution - coding silent Large_intestine COSM984410 ZBTB4 c.2188G>T p.D730Y Substitution - Missense Endometrium COSM3452251 KDM2A c.2819C>T p.A940V Substitution - Missense Skin COSM2007377 KMT2D c.1940delC p.P647fs*38 Deletion - Frameshift Prostate COSM5914302 NCOA6 c.3563C>T p.S1188F Substitution - Missense Skin COSM231767 KDM1B c.1559A>G p.Y520C Substitution - Missense Skin COSM4110085 KDM5C c.476G>A p.R159H Substitution - Missense Stomach COSM36248 IDH1 c.? p.R132? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4579293 CDYL2 c.302G>A p.G101E Substitution - Missense Bone COSM41900 TET2 c.? p.C1271* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1114027 ZBTB33 c.987G>A p.E329E Substitution - coding silent Endometrium COSM283987 PHF20L1 c.252C>A p.F84L Substitution - Missense Endometrium COSM4144196 RERE c.4629G>T p.M1543I Substitution - Missense Thyroid COSM3414000 SMARCD3 c.637-5G>A p.? Unknown Oesophagus COSM5970602 EP400 c.8577G>A p.L2859L Substitution - coding silent Upper_aerodigestive_tract COSM3410570 NCOA7 c.1301A>T p.D434V Substitution - Missense Central_nervous_system COSM4977254 KDM3B c.564A>T p.Q188H Substitution - Missense Oesophagus COSM1669319 BAZ2B c.419T>G p.F140C Substitution - Missense Large_intestine COSM1186263 SETD2 c.5828A>T p.E1943V Substitution - Missense Lung COSM5356238 SETD7 c.727T>C p.S243P Substitution - Missense Large_intestine COSM1172751 PRDM15 c.1765G>A p.A589T Substitution - Missense Oesophagus COSM3733522 NCOR1 c.59A>C p.Y20S Substitution - Missense Upper_aerodigestive_tract COSM4384064 NSD1 c.2625T>A p.D875E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5962502 KDM2A c.1669G>A p.A557T Substitution - Missense Breast COSM4395631 SMEK2 c.1331T>A p.L444Q Substitution - Missense Skin COSM3461621 KMT2D c.1657C>T p.P553S Substitution - Missense Skin COSM1457694 CHD7 c.1808A>G p.N603S Substitution - Missense Large_intestine COSM3514783 RAI1 c.4957C>T p.P1653S Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Small_intestine COSM43504 TET2 c.2290_2291insC p.Q764fs*5 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM391033 SETBP1 c.3296delC p.H1100fs*2 Deletion - Frameshift Lung COSM1722309 MYST3 c.5079A>C p.P1693P Substitution - coding silent Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Liver COSM285623 TCF20 c.4787G>A p.R1596Q Substitution - Missense Large_intestine COSM4929247 SETD2 c.4844C>T p.T1615I Substitution - Missense Liver COSM5762955 TET2 c.2082_2083insA p.M695fs*17 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM4383825 TET2 c.1815delC p.Y605fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1738042 TET2 c.? p.Q1680* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1125410 ATRX c.6010G>T p.D2004Y Substitution - Missense Endometrium COSM3473717 TDRKH c.1114C>T p.R372* Substitution - Nonsense Skin COSM199116 CHD1 c.3566G>A p.R1189Q Substitution - Missense Endometrium COSM1665373 BRWD1 c.351delC p.C118fs*24 Deletion - Frameshift Kidney COSM3434300 TDRD1 c.2799G>A p.T933T Substitution - coding silent Skin COSM1121693 PHF16 c.956C>T p.T319M Substitution - Missense Stomach COSM3814984 ARID4A c.2476C>T p.H826Y Substitution - Missense Breast COSM41294 IDH1 c.? p.R132C Substitution - Missense Biliary_tract COSM4145958 PHRF1 c.3134G>A p.R1045Q Substitution - Missense Thyroid COSM254633 CREBBP c.2515C>T p.Q839* Substitution - Nonsense Urinary_tract COSM1125084 HDAC8 c.1047G>A p.T349T Substitution - coding silent Endometrium COSM1433383 KDM3B c.4212C>A p.I1404I Substitution - coding silent Large_intestine COSM4002744 PBRM1 c.4335A>G p.P1445P Substitution - coding silent Soft_tissue COSM1235371 ARID1A c.3133G>A p.G1045S Substitution - Missense Breast COSM1162010 MPHOSPH8 c.2458-2A>T p.? Unknown Kidney COSM4188148 EYA4 c.1769A>T p.Q590L Substitution - Missense Kidney COSM3697199 PRDM9 c.1676G>T p.R559L Substitution - Missense Large_intestine COSM110297 ASH1L c.1152C>A p.A384A Substitution - coding silent Skin COSM88744 CREBBP c.4507T>C p.Y1503H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1630066 NCOR1 c.515C>T p.S172L Substitution - Missense Central_nervous_system COSM485538 BAZ1B c.3375A>G p.E1125E Substitution - coding silent Kidney COSM1560994 RNF134 c.83_84insGCCTCC p.P28_V29insPP Insertion - In frame Large_intestine COSM474274 BRD4 c.497C>A p.T166K Substitution - Missense Kidney COSM289297 NCOR1 c.2317A>T p.K773* Substitution - Nonsense Large_intestine COSM1484274 TCF20 c.5866C>A p.Q1956K Substitution - Missense Breast COSM3999682 IDH2 c.517C>G p.H173D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3715731 STK31 c.1965+2T>C p.? Unknown Upper_aerodigestive_tract COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1724645 SETD1A c.928_929insC p.R311fs*51 Insertion - Frameshift Skin COSM3720632 DNMT3A c.1667+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM211704 TET2 c.3379C>T p.Q1127* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1257804 MLL5 c.2888G>A p.R963H Substitution - Missense Oesophagus COSM3735027 SMARCA4 c.2766G>A p.W922* Substitution - Nonsense Ovary COSM4634600 BRWD1 c.2194C>T p.R732C Substitution - Missense Large_intestine COSM3667690 SMEK1 c.1183A>C p.M395L Substitution - Missense Liver COSM4611398 ZMYM2 c.3124delA p.K1044fs*33 Deletion - Frameshift Large_intestine COSM739334 NCOA7 c.157G>C p.D53H Substitution - Missense Lung COSM473895 MBD1 c.141T>G p.V47V Substitution - coding silent Kidney COSM240278 JMJD1C c.6332A>T p.Y2111F Substitution - Missense Prostate COSM4437159 MYST3 c.110C>A p.S37Y Substitution - Missense Oesophagus COSM2059748 PCGF6 c.459C>T p.T153T Substitution - coding silent Large_intestine COSM316221 TRRAP c.8894A>G p.D2965G Substitution - Missense Lung COSM5365718 DOT1L c.1227C>A p.R409R Substitution - coding silent Large_intestine COSM1045487 SETD2 c.1899A>C p.G633G Substitution - coding silent Endometrium COSM211735 TET2 c.4600C>T p.Q1534* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1562942 MGA c.2742T>G p.S914S Substitution - coding silent Large_intestine COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5914873 ATAD2B_ENST00000238789 c.1699G>A p.E567K Substitution - Missense Skin COSM419360 NCOA3 c.1931C>G p.S644* Substitution - Nonsense Urinary_tract COSM6005447 UTY c.3924T>C p.C1308C Substitution - coding silent Prostate COSM216315 SCMH1 c.962G>A p.S321N Substitution - Missense Pancreas COSM5590846 EZH1 c.937C>T p.H313Y Substitution - Missense Skin COSM737912 NIPBL c.2205T>C p.T735T Substitution - coding silent Lung COSM5967519 MSH6 c.? p.A175T Substitution - Missense Endometrium COSM907951 EYA3 c.910C>T p.R304W Substitution - Missense Endometrium COSM4119138 PBRM1 c.4128C>A p.G1376G Substitution - coding silent Stomach COSM1383596 HDAC5 c.2594T>C p.L865P Substitution - Missense Large_intestine COSM4141429 KDM3B c.2699A>G p.Q900R Substitution - Missense Ovary COSM2965395 KDM6A c.2439C>T p.N813N Substitution - coding silent Upper_aerodigestive_tract COSM954424 CHD8 c.5335C>T p.R1779C Substitution - Missense Endometrium COSM1266218 SMARCA2 c.669G>A p.Q223Q Substitution - coding silent Biliary_tract COSM5357299 PHF3 c.3504T>C p.S1168S Substitution - coding silent Large_intestine COSM3514744 RAI1 c.1902G>A p.K634K Substitution - coding silent Skin COSM85821 ATRX c.6338_6341delTTAT p.F2113fs*9 Deletion - Frameshift Autonomic_ganglia COSM5945661 TET2 c.78G>T p.Q26H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2161491 SFMBT2 c.375C>T p.I125I Substitution - coding silent Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1674941 BRD3 c.1826C>T p.S609F Substitution - Missense Oesophagus COSM1307606 DIDO1 c.5426C>A p.S1809Y Substitution - Missense Urinary_tract COSM4487973 NCOR1 c.3205C>T p.H1069Y Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4167447 CHD8 c.1753_1754insA p.Y585fs*1 Insertion - Frameshift Central_nervous_system COSM3634192 JHDM1D c.2501C>T p.S834L Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5944479 DNMT3A c.1651_1652insGTGCGGA p.N551fs*29 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4416742 ACTR5 c.1447A>G p.I483V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1673706 KMT2C c.8957G>A p.G2986D Substitution - Missense Stomach COSM3458251 EP400 c.6007C>T p.L2003L Substitution - coding silent Skin COSM5105952 ARID1B c.189_190insCAGCAG p.Q73_H74insQQ Insertion - In frame Large_intestine COSM1318404 AP001011.3_ENST00000320876 c.4650T>C p.D1550D Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3677927 CHD8 c.4213A>C p.T1405P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5050342 KAT6B c.1894C>T p.L632L Substitution - coding silent Stomach COSM3832346 KMT2C c.8653G>A p.E2885K Substitution - Missense Breast COSM277640 TDRD7 c.265C>T p.R89C Substitution - Missense Liver COSM1615450 ASXL1 c.1578C>T p.S526S Substitution - coding silent Liver COSM4994683 CBX3 c.167_167+1ins68 p.S79fs*12 Unknown Large_intestine COSM3786875 HDAC3 c.179G>A p.R60H Substitution - Missense Pancreas COSM4939599 ARID1A c.4994-2A>T p.? Unknown Liver COSM4034182 PHRF1 c.173A>G p.D58G Substitution - Missense Stomach COSM404545 MTA1 c.1956C>T p.D652D Substitution - coding silent Lung COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5674741 PHF8 c.398T>A p.L133* Substitution - Nonsense Soft_tissue COSM4471901 BRD1 c.1748C>T p.P583L Substitution - Missense Skin COSM4910418 MPHOSPH8 c.1986C>T p.V662V Substitution - coding silent Liver COSM132993 ARID1A c.5719A>T p.I1907F Substitution - Missense Breast COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5075571 SETD2 c.6020G>T p.R2007L Substitution - Missense Kidney COSM3788236 SMARCA2 c.334C>T p.P112S Substitution - Missense Pancreas COSM969947 SRCAP c.8130G>A p.S2710S Substitution - coding silent Endometrium COSM13944 ERCC6 c.2925A>G p.R975R Substitution - coding silent Lung COSM1065871 DUSP1 c.513+2T>C p.? Unknown Endometrium COSM277235 SETBP1 c.3439C>T p.L1147F Substitution - Missense Large_intestine COSM936439 SETD8 c.403G>A p.A135T Substitution - Missense Endometrium COSM1067093 PRDM9 c.2379T>A p.S793R Substitution - Missense Prostate COSM451824 PHIP c.3831_3833delGAA p.K1278delK Deletion - In frame Breast COSM3423131 TFPT c.277G>A p.E93K Substitution - Missense Large_intestine COSM5346172 KDM6A c.2265delG p.A756fs*18 Deletion - Frameshift Urinary_tract COSM2260280 MTF2 c.1180_1181insA p.G397fs*23 Insertion - Frameshift Upper_aerodigestive_tract COSM4120709 MINA c.199C>T p.Q67* Substitution - Nonsense Stomach COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4588560 BRD3 c.1206G>A p.R402R Substitution - coding silent Bone COSM4885763 INOC1 c.3036G>A p.V1012V Substitution - coding silent Upper_aerodigestive_tract COSM2150379 BAZ1B c.1150A>T p.I384F Substitution - Missense Central_nervous_system COSM3793889 ALKBH1 c.1135G>A p.E379K Substitution - Missense Urinary_tract COSM4260257 CREBBP c.687A>T p.P229P Substitution - coding silent Large_intestine COSM5407254 STK31 c.2561C>T p.S854L Substitution - Missense Skin COSM5945072 TET2 c.5620G>A p.E1874K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM68968 BRWD3 c.1029_1042del14 p.I344fs*2 Deletion - Frameshift Ovary COSM1752895 MBD4 c.1087G>C p.E363Q Substitution - Missense Urinary_tract COSM1610768 ZBTB4 c.1217A>T p.K406M Substitution - Missense Liver COSM1469482 ATRX c.2518_2519insA p.R840fs*9 Insertion - Frameshift Large_intestine COSM4929009 TCF20 c.2732C>G p.P911R Substitution - Missense Liver COSM3365320 SETD5_ENST00000402198 c.1290A>C p.P430P Substitution - coding silent Kidney COSM984418 ZBTB4 c.1715C>T p.A572V Substitution - Missense Endometrium COSM1388298 SMCHD1 c.673delA p.M227fs*12 Deletion - Frameshift Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5989596 TET2 c.4284_4285insT p.G1430fs*48 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5350962 ZCWPW2 c.657G>A p.R219R Substitution - coding silent Lung COSM1583135 DNMT3A c.2635A>G p.N879D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3262022 SMARCD3 c.1087C>T p.L363F Substitution - Missense Large_intestine COSM247199 SCML2 c.581T>C p.I194T Substitution - Missense Prostate COSM240807 KAT6B c.323_337del15 p.N108_R112delNKLLR Deletion - In frame Prostate COSM34090 IDH2 c.516G>T p.R172S Substitution - Missense Bone COSM87297 IKZF1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1179669 KMT2C c.943G>A p.G315S Substitution - Missense Prostate COSM4791015 ATF7IP c.517G>T p.D173Y Substitution - Missense Liver COSM3622263 ARID1B c.1730G>T p.G577V Substitution - Missense Skin COSM1125467 ATRX c.3227C>G p.S1076C Substitution - Missense Endometrium COSM400338 ATF7IP c.3735C>T p.A1245A Substitution - coding silent Lung COSM5680135 SMYD1 c.627G>T p.W209C Substitution - Missense Soft_tissue COSM4754822 ADNP c.2438G>A p.R813H Substitution - Missense Stomach COSM907707 ARID1A c.3219G>A p.W1073* Substitution - Nonsense Stomach COSM5705568 RERE c.3943C>T p.R1315* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3787897 ATF2 c.217A>G p.T73A Substitution - Missense Pancreas COSM720953 HDAC4 c.2781G>T p.V927V Substitution - coding silent Lung COSM2747819 DOT1L c.5190G>A p.A1730A Substitution - coding silent Large_intestine COSM5414960 ARID1A c.2833G>A p.G945R Substitution - Missense Endometrium COSM4980540 SETD1A c.1129C>T p.Q377* Substitution - Nonsense Oesophagus COSM2995115 CTCF c.134C>T p.T45M Substitution - Missense Large_intestine COSM4064154 NCOR1 c.4593G>A p.A1531A Substitution - coding silent Stomach COSM992 SMARCB1 c.472C>T p.R158* Substitution - Nonsense Central_nervous_system COSM3760136 SMARCC1 c.1845A>G p.K615K Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1371931 SETD3 c.1238A>T p.N413I Substitution - Missense Large_intestine COSM5563690 BRWD1 c.1195C>T p.Q399* Substitution - Nonsense Prostate COSM42040 TET2 c.4240C>T p.Q1414* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1077622 BAG6 c.2034C>T p.G678G Substitution - coding silent Endometrium COSM4126230 PRDM8 c.1874A>G p.N625S Substitution - Missense Stomach COSM3393158 KDM3B c.2776A>G p.K926E Substitution - Missense Pancreas COSM1114781 SMARCA1 c.2557C>G p.L853V Substitution - Missense Endometrium COSM5104135 BAHCC1 c.1671delG p.G559fs*75 Deletion - Frameshift Prostate COSM355055 MGA c.2515G>T p.E839* Substitution - Nonsense Lung COSM5698871 EP300 c.5462G>T p.R1821L Substitution - Missense Soft_tissue COSM5558575 HDAC2 c.419T>C p.L140S Substitution - Missense Prostate COSM5029430 CHD6 c.550G>T p.A184S Substitution - Missense Bone COSM4780265 KMT2C c.11807A>T p.H3936L Substitution - Missense Liver COSM4912083 PCGF6 c.770T>C p.L257P Substitution - Missense Liver COSM4841358 KMT2C c.3874C>T p.R1292* Substitution - Nonsense Cervix COSM5377846 ASH1L c.3490C>T p.P1164S Substitution - Missense Skin COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Central_nervous_system COSM1049744 TET2 c.824A>G p.N275S Substitution - Missense Endometrium COSM3473720 TDRKH c.586G>A p.E196K Substitution - Missense Skin COSM956520 ARID4A c.157G>T p.D53Y Substitution - Missense Endometrium COSM5651280 ARID2 c.3454C>T p.P1152S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4781632 SMARCA4 c.3484G>A p.G1162S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM379005 KMT2D c.3001G>A p.D1001N Substitution - Missense Lung COSM345944 KMT2C c.5750G>A p.R1917K Substitution - Missense Lung COSM5554774 CHD4 c.5031A>G p.G1677G Substitution - coding silent Prostate COSM144596 KMT2D c.4576C>T p.R1526W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4097605 DNMT3B c.1726C>T p.R576* Substitution - Nonsense Skin COSM4382809 KDM3B c.3988G>A p.A1330T Substitution - Missense Large_intestine COSM2974771 TRIM28 c.1205C>T p.A402V Substitution - Missense Large_intestine COSM4591023 KMT2C c.871C>T p.L291F Substitution - Missense Upper_aerodigestive_tract COSM1753997 KDM3B c.1660C>T p.R554W Substitution - Missense Urinary_tract COSM378201 TP53BP1 c.1716A>T p.A572A Substitution - coding silent Lung COSM2149056 JHDM1D c.938G>A p.R313H Substitution - Missense Central_nervous_system COSM4969960 ZMYM1 c.1479_1489del11 p.E493fs*6 Deletion - Frameshift Central_nervous_system COSM1312286 CDYL c.1156G>A p.D386N Substitution - Missense Urinary_tract COSM215581 CHD8 c.3725G>A p.R1242Q Substitution - Missense Central_nervous_system COSM1326285 NCOA1 c.2481G>A p.L827L Substitution - coding silent Ovary COSM1169608 TET2 c.? p.Y61fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM366166 SETD3 c.840C>T p.T280T Substitution - coding silent Lung COSM3874525 TDRD6 c.2515A>G p.S839G Substitution - Missense Stomach COSM2183633 POGZ c.1337C>T p.P446L Substitution - Missense Large_intestine COSM4640243 KDM4B c.666G>A p.R222R Substitution - coding silent Large_intestine COSM3848337 TAF1L c.1879G>A p.G627R Substitution - Missense Breast COSM5599122 BAP1 c.819C>T p.T273T Substitution - coding silent Skin COSM1640467 MYST1 c.295C>T p.R99W Substitution - Missense Liver COSM1618861 GABRG1 c.650A>G p.E217G Substitution - Missense Liver COSM3596192 PBRM1 c.1583A>G p.N528S Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1718402 CHD9 c.6541T>C p.S2181P Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM95829 DNMT1 c.1848G>A p.T616T Substitution - coding silent Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM464364 ARID1A c.5749A>G p.T1917A Substitution - Missense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1185372 ARID1A c.2318C>T p.P773L Substitution - Missense Lung COSM4008571 RAD54L c.1708A>G p.M570V Substitution - Missense Stomach COSM3204038 PHC3 c.2280C>A p.D760E Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4845110 DNMT1 c.2850C>G p.I950M Substitution - Missense Cervix COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4649538 TP53BP1 c.3543G>A p.G1181G Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5731531 YEATS4 c.619A>T p.T207S Substitution - Missense Central_nervous_system COSM88748 CREBBP c.4337G>A p.R1446H Substitution - Missense Oesophagus COSM929392 PHRF1 c.3714C>T p.P1238P Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM3735282 PHF3 c.2576T>C p.M859T Substitution - Missense Skin COSM4012803 PWWP2B c.1554C>T p.D518D Substitution - coding silent Stomach COSM2183877 TDRKH c.640C>T p.R214C Substitution - Missense Pancreas COSM159337 BAZ1B c.3162C>T p.F1054F Substitution - coding silent Breast COSM3488864 ZMYM6 c.307C>T p.Q103* Substitution - Nonsense Skin COSM22572 MEN1 c.? p.R415* Substitution - Nonsense Parathyroid COSM41741 TET2 c.5618T>C p.I1873T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1212329 KIAA2026_ENST00000399933 c.917C>T p.A306V Substitution - Missense Large_intestine COSM4042131 HDAC7 c.1239C>T p.G413G Substitution - coding silent Stomach COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM5056464 DOT1L c.2489C>T p.P830L Substitution - Missense Stomach COSM1324498 SRCAP c.3397G>C p.V1133L Substitution - Missense Ovary COSM3385163 VPS72 c.469C>T p.R157W Substitution - Missense Pancreas COSM4034523 PHRF1 c.1805A>G p.D602G Substitution - Missense Stomach COSM5457444 WDR5 c.9G>A p.T3T Substitution - coding silent Large_intestine COSM5961379 DPF2 c.32T>A p.L11H Substitution - Missense Adrenal_gland COSM4237089 PHC2 c.118C>T p.P40S Substitution - Missense Skin COSM181348 PRDM2 c.846A>T p.E282D Substitution - Missense Large_intestine COSM473251 BPTF c.8416G>C p.D2806H Substitution - Missense Kidney COSM4421769 NCOA2 c.2606-1G>C p.? Unknown Pleura COSM5730835 SETD2 c.4678A>T p.R1560* Substitution - Nonsense Breast COSM468605 CBX5 c.226G>T p.G76C Substitution - Missense Kidney COSM3804991 PHC2 c.1928A>C p.E643A Substitution - Missense Breast COSM1227877 STK31 c.2916C>A p.F972L Substitution - Missense Large_intestine COSM39460 HCFC2 c.716G>A p.G239E Substitution - Missense Central_nervous_system COSM43420 TET2 c.4546C>T p.R1516* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM85911 IKZF1 c.161-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85917 TET2 c.2227C>T p.Q743* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM51484 ARID1A c.4840C>T p.Q1614* Substitution - Nonsense Biliary_tract COSM77755 GABRG1 c.1160C>T p.T387I Substitution - Missense Skin COSM74415 DNMT3A c.2209C>T p.L737F Substitution - Missense Ovary COSM94732 MSH6 c.2009G>T p.G670V Substitution - Missense Lung COSM116351 SMYD4 c.2390C>A p.P797H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96349 BAP1 c.241T>G p.F81V Substitution - Missense Pleura COSM221017 KMT2D c.2824G>T p.D942Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM166837 TET2 c.5602C>T p.H1868Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM166408 CREBBP c.4471C>A p.Q1491K Substitution - Missense Central_nervous_system COSM164321 SHPRH c.1918G>A p.D640N Substitution - Missense Breast COSM218987 SMARCA2 c.2759C>T p.T920I Substitution - Missense Pancreas COSM226272 KDM5A c.4261C>T p.P1421S Substitution - Missense Skin COSM225883 KMT2C c.2968A>G p.S990G Substitution - Missense Central_nervous_system COSM242036 TRIM33 c.3271G>C p.E1091Q Substitution - Missense Prostate COSM254820 KMT2C c.9034C>T p.Q3012* Substitution - Nonsense Urinary_tract COSM254974 TDRD1 c.2792G>A p.W931* Substitution - Nonsense Urinary_tract COSM266105 BTAF1 c.5225G>A p.R1742H Substitution - Missense Large_intestine COSM276082 MLL5 c.1260A>C p.E420D Substitution - Missense Large_intestine COSM297202 PRDM2 c.4459delA p.V1490fs*74 Deletion - Frameshift Small_intestine COSM387248 NCOA6 c.49T>A p.C17S Substitution - Missense Lung COSM398370 TRRAP c.292C>G p.H98D Substitution - Missense Lung COSM52852 PBRM1 c.307delA p.M103fs*10 Deletion - Frameshift Kidney COSM430522 HNF1A c.79A>C p.I27L Substitution - Missense Soft_tissue COSM459145 ARID4A c.1963G>A p.E655K Substitution - Missense Cervix COSM1027504 EYA2 c.860C>T p.T287M Substitution - Missense Endometrium COSM754851 MORF4L2 c.88C>T p.Q30* Substitution - Nonsense Lung COSM919485 JMJD1C c.3457T>G p.F1153V Substitution - Missense Endometrium COSM755715 HCFC1 c.2986A>T p.T996S Substitution - Missense Lung COSM717676 ATF2 c.688G>T p.A230S Substitution - Missense Lung COSM900301 TDRD5 c.1593C>A p.L531L Substitution - coding silent Endometrium COSM905243 ACTA1 c.306G>A p.E102E Substitution - coding silent Endometrium COSM908650 ZMYM1 c.3076G>T p.E1026* Substitution - Nonsense Endometrium COSM896903 ASH1L c.8185C>T p.R2729C Substitution - Missense Endometrium COSM894487 TTF2 c.904C>T p.Q302* Substitution - Nonsense Endometrium COSM948230 TDRD3 c.965G>A p.R322Q Substitution - Missense Endometrium COSM896430 GATAD2B c.1459C>A p.P487T Substitution - Missense Endometrium COSM990443 DNMT1 c.2787C>T p.N929N Substitution - coding silent Endometrium COSM971433 CHD9 c.6549T>C p.S2183S Substitution - coding silent Endometrium COSM1602532 ORC1 c.256G>C p.V86L Substitution - Missense Liver COSM1125444 ATRX c.4280G>A p.R1427H Substitution - Missense Endometrium COSM1125491 ATRX c.2117G>A p.S706N Substitution - Missense Endometrium COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1248204 CHD3 c.911A>T p.K304M Substitution - Missense Oesophagus COSM1203538 DHX30 c.3538C>T p.R1180* Substitution - Nonsense Large_intestine COSM1209413 HDAC9 c.291A>C p.K97N Substitution - Missense Large_intestine COSM1205369 EP300 c.4397G>T p.W1466L Substitution - Missense Stomach COSM1223043 RAI1 c.5290G>A p.A1764T Substitution - Missense Large_intestine COSM1179848 KDM6A c.3111G>A p.Q1037Q Substitution - coding silent Soft_tissue COSM1603245 SUV39H2 c.231G>A p.L77L Substitution - coding silent Liver COSM1312145 BRPF3 c.234G>A p.K78K Substitution - coding silent Urinary_tract COSM1286524 NCOA3 c.2517G>A p.L839L Substitution - coding silent Autonomic_ganglia COSM1292732 EYA1 c.363T>C p.A121A Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1323218 INOC1 c.2044A>G p.T682A Substitution - Missense Ovary COSM1388296 AP001011.3_ENST00000320876 c.2329delA p.M779fs*12 Deletion - Frameshift Large_intestine COSM1377839 CREBBP c.3882C>T p.C1294C Substitution - coding silent Large_intestine COSM1378322 CHD9 c.7288delA p.R2432fs*8 Deletion - Frameshift Large_intestine COSM1372818 MGA c.1836delA p.R614fs*7 Deletion - Frameshift Large_intestine COSM1423578 SETD2 c.1425A>C p.E475D Substitution - Missense Large_intestine COSM1447012 MLL5 c.2613delA p.K873fs*8 Deletion - Frameshift Large_intestine COSM1445548 PHF3 c.1252A>G p.K418E Substitution - Missense Large_intestine COSM1368975 CHD8 c.7112_7113insA p.N2371fs*2 Insertion - Frameshift Large_intestine COSM1352569 PRDM10 c.1286A>G p.Q429R Substitution - Missense Large_intestine COSM1363776 CHD4 c.417G>T p.E139D Substitution - Missense Soft_tissue COSM1361683 ARID2 c.1277C>T p.T426M Substitution - Missense Large_intestine COSM1565740 NCOA3 c.3765G>A p.Q1255Q Substitution - coding silent Large_intestine COSM1565741 NCOA3 c.1560C>A p.S520R Substitution - Missense Large_intestine COSM1607438 MTA1 c.427C>T p.R143W Substitution - Missense Liver COSM1581244 KMT2C c.7162C>T p.R2388C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1623571 ATAD2 c.2587C>A p.H863N Substitution - Missense Liver COSM1622714 STK31 c.733C>T p.H245Y Substitution - Missense Liver COSM1689314 TDRD5 c.1480G>A p.D494N Substitution - Missense Skin COSM1645106 UHRF1 c.577G>A p.E193K Substitution - Missense Salivary_gland COSM1736424 CREBBP c.1945G>A p.E649K Substitution - Missense Central_nervous_system COSM1757015 DIDO1 c.4470G>C p.K1490N Substitution - Missense Urinary_tract COSM1746595 RSF1 c.1509G>C p.E503D Substitution - Missense Urinary_tract COSM144604 KMT2D c.15500A>G p.N4526S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2229111 EP400 c.4002C>T p.H1334H Substitution - coding silent Oesophagus COSM2801210 PHF12 c.313C>T p.R105C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2808603 SMCHD1 c.1757C>T p.A586V Substitution - Missense Cervix COSM2889486 DNMT3B c.335C>T p.S112F Substitution - Missense Oesophagus COSM3064253 BRD1 c.649T>C p.C217R Substitution - Missense Large_intestine COSM3148789 DNMT1 c.2427G>A p.S809S Substitution - coding silent Large_intestine COSM3132351 WHSC1 c.3840T>C p.C1280C Substitution - coding silent Large_intestine COSM3174791 SIRT5 c.718G>A p.A240T Substitution - Missense Large_intestine COSM3236592 HCFC1 c.1392G>A p.S464S Substitution - coding silent Cervix COSM3377105 ARID1A c.2296C>T p.Q766* Substitution - Nonsense Pancreas COSM3386057 ARID1A c.1900T>G p.S634A Substitution - Missense Pancreas COSM3413974 EZH2 c.2000T>C p.M667T Substitution - Missense Oesophagus COSM3406566 TAF1 c.8C>T p.P3L Substitution - Missense Central_nervous_system COSM3496566 ARID4A c.1903G>A p.G635S Substitution - Missense Skin COSM3473669 POGZ c.4098T>C p.S1366S Substitution - coding silent Skin COSM3622283 ARID1B c.4068C>T p.R1356R Substitution - coding silent Skin COSM3578909 SP140_ENST00000392045 c.1895G>A p.G632E Substitution - Missense Skin COSM3548770 DIDO1 c.6020C>T p.S2007L Substitution - Missense Prostate COSM3644823 ATAD2 c.3647G>A p.G1216E Substitution - Missense Skin COSM3718537 SETBP1 c.3856C>T p.P1286S Substitution - Missense Upper_aerodigestive_tract COSM3720899 ATAD2B_ENST00000238789 c.1260T>G p.L420L Substitution - coding silent Upper_aerodigestive_tract COSM3711694 MGA c.1110G>T p.P370P Substitution - coding silent Upper_aerodigestive_tract COSM3735913 PRMT6 c.404C>T p.A135V Substitution - Missense Thyroid COSM3906586 SMARCA2 c.3797G>A p.R1266Q Substitution - Missense Stomach COSM3891423 DNMT1 c.4417C>T p.R1473C Substitution - Missense Skin COSM4031487 HDAC1 c.922G>A p.V308I Substitution - Missense Stomach COSM4007303 PHF2 c.309C>T p.D103D Substitution - coding silent Thyroid COSM4054506 RTF1 c.1741C>T p.R581* Substitution - Nonsense Stomach COSM3984048 PRMT6 c.228C>T p.V76V Substitution - coding silent Kidney COSM3986891 KDM5A c.4858T>C p.C1620R Substitution - Missense Kidney COSM4098454 CHD6 c.3419A>G p.Y1140C Substitution - Missense Stomach COSM4110037 KDM5C c.4426G>A p.E1476K Substitution - Missense Stomach COSM4073747 DNMT1 c.3109G>A p.A1037T Substitution - Missense Stomach COSM4068053 AKAP1 c.1878G>A p.Q626Q Substitution - coding silent Stomach COSM4130636 ZBTB4 c.823C>A p.P275T Substitution - Missense Thyroid COSM4134755 DIDO1 c.1272G>A p.A424A Substitution - coding silent Thyroid COSM4140141 L3MBTL4 c.974G>A p.R325K Substitution - Missense Ovary COSM4152105 PRDM12 c.1091C>G p.A364G Substitution - Missense Ovary COSM4156325 EP300 c.5335T>G p.C1779G Substitution - Missense Thyroid COSM4171977 TAF1 c.3145C>T p.R1049C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4186508 PHF12 c.455C>A p.A152D Substitution - Missense Kidney COSM4384706 KMT2D c.12580C>T p.Q4194* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4565623 SFMBT1 c.2320_2321CC>TT p.P774F Substitution - Missense Skin COSM4505194 CBX7 c.686C>T p.S229F Substitution - Missense Skin COSM4593385 ARID2 c.4663G>T p.A1555S Substitution - Missense Upper_aerodigestive_tract COSM4504184 KMT2D c.5775C>T p.T1925T Substitution - coding silent Skin COSM4502446 NCOR1 c.6139C>T p.R2047W Substitution - Missense Skin COSM4681127 EP400 c.5555C>T p.P1852L Substitution - Missense Large_intestine COSM4701743 MEN1 c.1159G>A p.E387K Substitution - Missense Large_intestine COSM4680482 EHMT1 c.731-2delA p.? Unknown Large_intestine COSM4614642 PRMT6 c.495_496insT p.A167fs*>151 Insertion - Frameshift Large_intestine COSM4793757 BAHCC1 c.715C>T p.P239S Substitution - Missense Liver COSM4931255 YEATS4 c.333+1G>T p.? Unknown Liver COSM4846827 HAT1 c.1119G>A p.M373I Substitution - Missense Cervix COSM4847368 JARID2 c.2592C>G p.H864Q Substitution - Missense Cervix COSM4878676 EP300 c.6229A>G p.N2077D Substitution - Missense Prostate COSM4991289 DOT1L c.3005C>T p.P1002L Substitution - Missense Skin COSM4975395 PHC3 c.1115C>G p.S372* Substitution - Nonsense Upper_aerodigestive_tract COSM5019722 KMT2C c.850-7C>T p.? Unknown Soft_tissue COSM5031078 KDM6A c.29_40del12 p.A14_A17del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM5025575 ATAD2B_ENST00000238789 c.880C>T p.R294* Substitution - Nonsense Breast COSM5027865 ARID4A c.591T>G p.S197S Substitution - coding silent Breast COSM5075570 SETD2 c.3305A>G p.Y1102C Substitution - Missense Kidney COSM5375225 HDAC7 c.867C>T p.F289F Substitution - coding silent Skin COSM5416096 MGA c.2689A>T p.K897* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5391021 TRIM28 c.950C>T p.A317V Substitution - Missense Skin COSM5470819 SETBP1 c.1759C>T p.R587W Substitution - Missense Large_intestine COSM5452327 EP300 c.3098C>T p.S1033L Substitution - Missense Large_intestine COSM5422993 GTF3C1 c.516G>A p.K172K Substitution - coding silent Prostate COSM5756380 SETD5_ENST00000402198 c.2867C>T p.T956I Substitution - Missense Large_intestine COSM5715563 MYST1 c.13G>A p.G5R Substitution - Missense Skin COSM5717375 HDAC9 c.2485G>A p.G829S Substitution - Missense Skin COSM5716556 SMARCD2 c.528C>T p.L176L Substitution - coding silent Skin COSM5607055 SND1 c.2198G>A p.G733E Substitution - Missense Skin COSM5613773 LMNA c.1129C>T p.R377C Substitution - Missense Lung COSM5598372 HDAC9 c.1475C>T p.S492L Substitution - Missense Skin COSM5709467 KDM3B c.4240-1G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5566443 ZMYM1 c.1715G>C p.R572T Substitution - Missense Prostate COSM5773708 TAF1 c.1315T>C p.S439P Substitution - Missense Breast COSM5782410 SIRT1 c.2070G>A p.E690E Substitution - coding silent Breast COSM5884927 MORF4L2 c.199C>T p.P67S Substitution - Missense Skin COSM5881527 ASH1L c.8638G>A p.E2880K Substitution - Missense Breast COSM5944913 DNMT3A c.2330C>G p.P777R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5945102 MLL5 c.1756C>T p.Q586* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5914953 KDM3A c.224G>A p.R75K Substitution - Missense Skin COSM6000655 PRMT8 c.397G>T p.G133W Substitution - Missense Prostate COSM6001942 CREBBP c.1779C>T p.H593H Substitution - coding silent Prostate COSM5967239 TET2 c.? p.Q659* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM1169382 EZH2 c.? p.R690H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716768 TET2 c.? p.A1512fs*58 Frameshift Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1636669 ARID1A c.? p.Q393* Substitution - Nonsense Urinary_tract COSM87114 TET2 c.2982_2983ins19 p.T995fs*20 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5570064 PHF21B c.1499C>T p.T500M Substitution - Missense Prostate COSM5672477 LBR c.1196_1198delTTA p.I399delI Deletion - In frame Soft_tissue COSM3300291 BAZ2B c.1733A>C p.Q578P Substitution - Missense Large_intestine COSM1101398 PRDM14 c.622G>A p.G208R Substitution - Missense Prostate COSM166347 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM422226 PHF6 c.202G>T p.E68* Substitution - Nonsense Urinary_tract COSM1301884 SRCAP c.5775C>T p.F1925F Substitution - coding silent Urinary_tract COSM1225800 SIRT7 c.1008G>A p.W336* Substitution - Nonsense Large_intestine COSM5019040 ERCC6 c.1196G>A p.G399D Substitution - Missense Soft_tissue COSM3418417 TDRD5 c.136C>T p.R46* Substitution - Nonsense Large_intestine COSM5149615 BAHCC1 c.2674G>A p.D892N Substitution - Missense Large_intestine COSM251424 ARID2 c.1802G>A p.R601Q Substitution - Missense Liver COSM86082 KMT2C c.2418C>G p.S806S Substitution - coding silent Soft_tissue COSM1482847 SP110 c.470G>A p.S157N Substitution - Missense Breast COSM447892 GABRG1 c.678A>G p.E226E Substitution - coding silent Breast COSM923580 KMT2A c.4371G>T p.K1457N Substitution - Missense Endometrium COSM1043295 KAT2B c.2381G>A p.R794Q Substitution - Missense Endometrium COSM4803020 APOBEC1 c.494C>T p.A165V Substitution - Missense Liver COSM1387281 BAHCC1 c.1874C>T p.A625V Substitution - Missense Large_intestine COSM417665 DOT1L c.1617G>A p.Q539Q Substitution - coding silent Urinary_tract COSM1756379 SMARCA1 c.837G>T p.M279I Substitution - Missense Urinary_tract COSM2153724 KMT2C c.13077G>C p.K4359N Substitution - Missense Central_nervous_system COSM213966 CREBBP c.3242G>A p.R1081H Substitution - Missense Breast COSM4603373 EP400 c.8156_8157insGCA p.Q2748_T2749insQ Insertion - In frame Upper_aerodigestive_tract COSM222773 BRPF1 c.3052G>A p.A1018T Substitution - Missense Skin COSM219136 ASXL1 c.2324T>A p.L775* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM971423 CHD9 c.4070G>A p.R1357Q Substitution - Missense Endometrium COSM332817 ARID1A c.1435C>T p.Q479* Substitution - Nonsense Breast COSM1101402 NCOA2 c.4107G>A p.Q1369Q Substitution - coding silent Endometrium COSM4058029 CHD2 c.3207G>A p.M1069I Substitution - Missense Stomach COSM4802791 KDM4D c.179G>T p.R60I Substitution - Missense Liver COSM1677027 CBX5 c.463G>T p.E155* Substitution - Nonsense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Biliary_tract COSM307189 BAP1 c.784_2190del1407 p.L262_*730del Deletion - In frame Pleura COSM4590120 KDM4B c.2128A>G p.K710E Substitution - Missense Upper_aerodigestive_tract COSM4409452 CBX6 c.955C>G p.P319A Substitution - Missense Oesophagus COSM270203 SMCHD1 c.2595G>A p.L865L Substitution - coding silent Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3792611 HDAC7 c.2809G>A p.D937N Substitution - Missense Urinary_tract COSM4591407 DIDO1 c.4872G>C p.K1624N Substitution - Missense Upper_aerodigestive_tract COSM3708261 CBX6 c.522C>T p.I174I Substitution - coding silent Liver COSM4945509 DHX30 c.4T>C p.F2L Substitution - Missense Liver COSM3465557 APOBEC1 c.349G>A p.A117T Substitution - Missense Skin COSM1200945 CHD1 c.2089C>T p.R697* Substitution - Nonsense Large_intestine COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM266904 MBD1 c.742C>T p.R248C Substitution - Missense Large_intestine COSM1667163 PRDM2 c.1409C>A p.S470Y Substitution - Missense Large_intestine COSM1125819 BRWD3 c.4241G>T p.S1414I Substitution - Missense Endometrium COSM431526 BAZ2A c.5587G>T p.V1863L Substitution - Missense Breast COSM5601815 KMT2A c.167delC p.P58fs*92 Deletion - Frameshift Skin COSM3492911 RERE c.1431C>T p.P477P Substitution - coding silent Skin COSM5444886 CHD8 c.5927C>T p.S1976F Substitution - Missense Oesophagus COSM1193409 ASXL1 c.4042G>A p.G1348R Substitution - Missense Lung COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM2823446 SMYD1 c.241G>A p.D81N Substitution - Missense Large_intestine COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3440088 SFMBT2 c.2421G>A p.T807T Substitution - coding silent Skin COSM217005 HNF1A c.1574C>T p.T525I Substitution - Missense Liver COSM3892121 DOT1L c.2502C>T p.S834S Substitution - coding silent Skin COSM740276 ARID1B c.5264A>C p.D1755A Substitution - Missense Lung COSM1563790 CBX1 c.555C>A p.N185K Substitution - Missense Large_intestine COSM459430 BAZ2A_ENST00000379441 c.4122C>G p.F1374L Substitution - Missense Cervix COSM1197259 SETD5_ENST00000402198 c.2927C>G p.A976G Substitution - Missense Lung COSM199169 TRRAP c.11397C>T p.F3799F Substitution - coding silent Endometrium COSM5738531 SMARCA2 c.2456G>A p.R819Q Substitution - Missense Small_intestine COSM3381382 BRPF3 c.1132C>T p.R378C Substitution - Missense Pancreas COSM127148 KMT2D c.1259-1G>T p.? Unknown Upper_aerodigestive_tract COSM3667851 CREBBP c.6012A>T p.R2004R Substitution - coding silent Liver COSM1609129 GTF3C1 c.3090A>G p.S1030S Substitution - coding silent Liver COSM41685 TET2 c.5738G>A p.G1913D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM977568 SUZ12 c.1323A>C p.Q441H Substitution - Missense Endometrium COSM5825529 DAXX c.982C>T p.R328C Substitution - Missense Pancreas COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2723128 MSL3 c.792C>A p.T264T Substitution - coding silent Large_intestine COSM3547822 PCNA c.322C>T p.Q108* Substitution - Nonsense Skin COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM6018613 BRWD3 c.549C>G p.V183V Substitution - coding silent Skin COSM1979075 ALKBH3 c.190C>T p.R64C Substitution - Missense Large_intestine COSM1324453 CREBBP c.3911_3914+10delCAGGGTGAGTTGTT p.? Unknown Ovary COSM1377488 SRCAP c.9297C>T p.S3099S Substitution - coding silent Large_intestine COSM3875673 PHIP c.2307C>A p.P769P Substitution - coding silent Stomach COSM3974507 PBRM1 c.3120C>G p.V1040V Substitution - coding silent Central_nervous_system COSM1177418 SMYD1 c.99C>T p.I33I Substitution - coding silent Large_intestine COSM4423089 SP140_ENST00000392045 c.226C>A p.Q76K Substitution - Missense Central_nervous_system COSM5520665 PRDM5 c.1457A>G p.E486G Substitution - Missense Biliary_tract COSM41892 TET2 c.2477_2477delG p.S826fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5352168 RERE c.4211delA p.E1404fs*6 Deletion - Frameshift Kidney COSM3458554 ATF7IP c.3407C>T p.P1136L Substitution - Missense Skin COSM43412 TET2 c.?_?del? p.?fs Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4498235 SETD1B c.1822C>T p.L608F Substitution - Missense Skin COSM4565551 PRDM16 c.2223_2224GG>AA p.D742N Substitution - Missense Skin COSM5369397 ARID1A c.3379C>T p.Q1127* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5108260 ACTL6B c.695_696insC p.N233fs*17 Insertion - Frameshift Breast COSM163706 PRDM15 c.964G>A p.D322N Substitution - Missense Prostate COSM5979266 SHPRH c.1758_1759insA p.G587fs*19 Insertion - Frameshift Upper_aerodigestive_tract COSM4162002 KMT2C c.2656C>T p.R886C Substitution - Missense Thyroid COSM1492340 BTAF1 c.3573A>T p.V1191V Substitution - coding silent Kidney COSM4163050 PRDM14 c.730A>G p.K244E Substitution - Missense Thyroid COSM896940 ASH1L c.2213G>T p.R738I Substitution - Missense Endometrium COSM450262 PRDM1 c.939C>G p.S313R Substitution - Missense Breast COSM1583121 DNMT3A c.2339T>C p.I780T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1684830 SETBP1 c.? p.D868Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1127243 TDRD5 c.2502T>C p.N834N Substitution - coding silent Prostate COSM5972067 SMYD4 c.1894G>A p.V632M Substitution - Missense Upper_aerodigestive_tract COSM2077061 PRDM16 c.414G>A p.S138S Substitution - coding silent Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5945962 BAP1 c.1942_1944delGCG p.A648del Deletion - In frame Eye COSM235408 SMARCC1 c.2175C>T p.V725V Substitution - coding silent Large_intestine COSM163750 PRMT2 c.476C>T p.A159V Substitution - Missense Breast COSM1721289 KMT2C c.14344-3delT p.? Unknown Biliary_tract COSM1670988 GABRG1 c.1034T>G p.F345C Substitution - Missense Large_intestine COSM5880253 KAT5 c.1615G>A p.D539N Substitution - Missense Skin COSM4164465 NCOA1 c.230T>A p.I77K Substitution - Missense Kidney COSM462171 BRWD3 c.2925G>A p.W975* Substitution - Nonsense Cervix COSM740193 L3MBTL3 c.698G>C p.C233S Substitution - Missense Lung COSM289539 MECOM c.2604G>A p.M868I Substitution - Missense Large_intestine COSM1586692 CHD4 c.3475A>G p.R1159G Substitution - Missense Endometrium COSM107121 CHD5 c.5109C>T p.F1703F Substitution - coding silent Skin COSM145919 SETD1A c.1109A>G p.Y370C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5479995 SMARCA5 c.518C>G p.S173W Substitution - Missense Large_intestine COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3103060 DOT1L c.140A>T p.E47V Substitution - Missense Large_intestine COSM4870928 CHD4 c.2869C>T p.R957W Substitution - Missense Endometrium COSM5558393 TDRD6 c.3234G>A p.L1078L Substitution - coding silent Prostate COSM1238249 ATAD2 c.1722G>A p.T574T Substitution - coding silent Oesophagus COSM4801124 KAT6B c.5830T>A p.Y1944N Substitution - Missense Liver COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3809983 MEN1 c.1802C>G p.S601C Substitution - Missense Breast COSM4624315 DIDO1 c.175C>T p.L59L Substitution - coding silent Large_intestine COSM1302459 SMYD4 c.1642G>C p.V548L Substitution - Missense Urinary_tract COSM4585110 CLOCK c.1367C>T p.P456L Substitution - Missense Bone COSM240690 KMT2D c.4285C>T p.R1429* Substitution - Nonsense Prostate COSM380998 WHSC1 c.3285G>A p.E1095E Substitution - coding silent Lung COSM3501016 INOC1 c.778C>T p.P260S Substitution - Missense Skin COSM307361 DNMT3A c.89A>C p.E30A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4604716 PBRM1 c.2106G>A p.K702K Substitution - coding silent Upper_aerodigestive_tract COSM254668 EP300 c.2470C>T p.Q824* Substitution - Nonsense Urinary_tract COSM4695072 JMJD5 c.881A>G p.Y294C Substitution - Missense Large_intestine COSM1685359 SETBP1 c.? p.G870D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3434291 TDRD1 c.1055G>A p.G352E Substitution - Missense Skin COSM247046 RING1 c.777T>G p.G259G Substitution - coding silent Prostate COSM2854069 PBRM1 c.3235C>T p.P1079S Substitution - Missense Large_intestine COSM1681758 ADNP c.2747T>G p.I916S Substitution - Missense Large_intestine COSM1235963 ASH1L c.5800G>C p.E1934Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5998629 KDM4C c.1551G>T p.V517V Substitution - coding silent Prostate COSM4155427 TIF1 c.1742T>A p.V581E Substitution - Missense Kidney COSM4596340 TDG c.306T>A p.F102L Substitution - Missense Upper_aerodigestive_tract COSM4490056 CREBBP c.3570C>T p.D1190D Substitution - coding silent Skin COSM4765103 ARID1A c.3277_3278insA p.Q1095fs*10 Insertion - Frameshift Stomach COSM1399860 EPC2 c.1592G>T p.R531M Substitution - Missense Large_intestine COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4721047 RERE c.2983C>T p.Q995* Substitution - Nonsense Large_intestine COSM5888519 ARID1A c.5818C>T p.P1940S Substitution - Missense Skin COSM5704133 DPF2 c.976G>A p.E326K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4772070 RBBP7 c.416T>C p.I139T Substitution - Missense Stomach COSM5675367 PHF15 c.524A>T p.E175V Substitution - Missense Soft_tissue COSM3737037 DNMT3A c.2702T>A p.L901H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1735880 EZH2 c.118-4delT p.? Unknown Central_nervous_system COSM1330438 TRRAP c.630A>C p.R210R Substitution - coding silent Ovary COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5698877 PRDM5 c.761A>G p.E254G Substitution - Missense Soft_tissue COSM1454651 ATAD2 c.1540C>T p.R514* Substitution - Nonsense Large_intestine COSM4924490 BRD8 c.3125A>G p.E1042G Substitution - Missense Liver COSM5414917 PHF3 c.4602A>C p.T1534T Substitution - coding silent Breast COSM1365143 ACTR6 c.936delT p.F314fs*6 Deletion - Frameshift Large_intestine COSM255263 MYST3 c.2981C>T p.P994L Substitution - Missense Central_nervous_system COSM5384104 IDH2 c.1249G>A p.G417S Substitution - Missense Skin COSM97156 PRDM1 c.632_633delAG p.E211fs*23 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM389694 KDM4C c.1520G>C p.W507S Substitution - Missense Lung COSM4717500 PRDM2 c.2520T>C p.T840T Substitution - coding silent Large_intestine COSM96450 CREBBP c.? p.R386* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM378980 RSF1 c.822T>C p.T274T Substitution - coding silent Lung COSM1685377 TET2 c.4474G>A p.E1492K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3423014 KDM4B c.999G>T p.W333C Substitution - Missense Large_intestine COSM5973808 MSH6 c.257C>T p.T86I Substitution - Missense Upper_aerodigestive_tract COSM1580705 CHD3 c.861G>T p.K287N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3405391 BRWD1 c.4832C>A p.S1611* Substitution - Nonsense Central_nervous_system COSM3708680 PHF8 c.1280T>C p.V427A Substitution - Missense Liver COSM3394270 PHF3 c.5209A>G p.K1737E Substitution - Missense Pancreas COSM5818666 SND1 c.1715A>T p.Q572L Substitution - Missense Liver COSM2781062 ACTR8 c.1482G>A p.L494L Substitution - coding silent Skin COSM41742 TET2 c.5152G>T p.V1718L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1719243 KDM3B c.1079C>T p.T360I Substitution - Missense Skin COSM326523 SMYD4 c.1346C>T p.A449V Substitution - Missense Lung COSM4797073 NIPBL c.3834G>A p.K1278K Substitution - coding silent Liver COSM3751836 ERCC6 c.3637A>G p.R1213G Substitution - Missense Soft_tissue COSM86973 IKZF1 c.161-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1200946 CHD1 c.1349C>A p.P450H Substitution - Missense Large_intestine COSM992157 BRD4 c.286G>A p.D96N Substitution - Missense Endometrium COSM5880063 PHF6 c.435delT p.F146fs*72 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1480303 ASXL3 c.571A>C p.T191P Substitution - Missense Breast COSM1411068 ASXL1 c.1356G>A p.G452G Substitution - coding silent Large_intestine COSM4959021 PRDM14 c.200C>T p.P67L Substitution - Missense Liver COSM1053622 ING2 c.760T>C p.Y254H Substitution - Missense Endometrium COSM4165923 KDM2A c.644T>C p.F215S Substitution - Missense Kidney COSM289833 KAT6B c.4779G>A p.Q1593Q Substitution - coding silent Large_intestine COSM4887518 NCOR1 c.6412G>A p.E2138K Substitution - Missense Upper_aerodigestive_tract COSM2848422 GABRG1 c.139T>A p.L47I Substitution - Missense Lung COSM3510225 CHD9 c.395C>T p.T132I Substitution - Missense Skin COSM1732039 BAP1 c.56_58delTGG p.V19delV Deletion - In frame Kidney COSM310681 DNMT3B c.1603G>A p.V535I Substitution - Missense Lung COSM4852474 KAT6B c.3028C>T p.R1010W Substitution - Missense Cervix COSM149088 SP110 c.619G>A p.E207K Substitution - Missense Soft_tissue COSM46443 HNF1A c.770A>C p.N257T Substitution - Missense Liver COSM1392050 DOT1L c.3102C>A p.F1034L Substitution - Missense Large_intestine COSM52995 EZH2 c.863G>A p.R288Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4831604 TAF1L c.2053C>G p.R685G Substitution - Missense Cervix COSM4567241 BAZ2A c.726_727CC>TT p.Q243* Substitution - Nonsense Skin COSM3602827 WHSC1 c.2812C>T p.P938S Substitution - Missense Skin COSM87897 KMT2D c.7871delC p.P2624fs*16 Deletion - Frameshift Central_nervous_system COSM87002 DNMT3A c.1627G>T p.G543C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM941537 SMARCC2 c.3498C>T p.A1166A Substitution - coding silent Endometrium COSM5678606 EYA4 c.169A>G p.N57D Substitution - Missense Soft_tissue COSM3769074 SMNDC1 c.663G>C p.M221I Substitution - Missense Pancreas COSM3739668 ARID2 c.187-1G>A p.? Unknown Liver COSM5438194 PRDM9 c.385A>G p.S129G Substitution - Missense Oesophagus COSM5054001 ARID4A c.3251_3252insA p.Q1087fs*15 Insertion - Frameshift Stomach COSM3021833 JARID2 c.1806C>T p.N602N Substitution - coding silent Large_intestine COSM133137 DNMT3A c.? p.G543A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1180774 KDM5A c.3597delA p.G1200fs*9 Deletion - Frameshift Large_intestine COSM5904980 BAZ2A_ENST00000379441 c.3211C>T p.R1071* Substitution - Nonsense Skin COSM5708768 SETD2 c.3709C>T p.R1237W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4626623 TDRD1 c.1228A>G p.I410V Substitution - Missense Large_intestine COSM133006 ARID1A c.2944_2946delAAC p.N982del Deletion - In frame Large_intestine COSM368392 RERE c.3493G>T p.E1165* Substitution - Nonsense Lung COSM5731143 PRDM1 c.221_222insCACA p.R76fs*9 Insertion - Frameshift Breast COSM392490 ZMYM5 c.109_110delCA p.H37fs*8 Deletion - Frameshift Lung COSM1133044 ASXL1 c.4090G>C p.V1364L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3401578 SETD3 c.1283C>T p.T428I Substitution - Missense Central_nervous_system COSM5643574 ACTR8 c.849C>T p.D283D Substitution - coding silent Oesophagus COSM5738226 KMT2C c.11053C>T p.P3685S Substitution - Missense Small_intestine COSM211731 TET2 c.4133G>A p.C1378Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM137141 SETBP1 c.2935G>A p.E979K Substitution - Missense Skin COSM3717729 KDM6B c.2068A>T p.I690F Substitution - Missense Liver COSM1081869 PHIP c.1187G>A p.R396Q Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2112134 PRMT3 c.470C>T p.S157F Substitution - Missense Upper_aerodigestive_tract COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM228110 KMT2C c.1042G>A p.D348N Substitution - Missense Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2802779 CBX2 c.1413C>T p.P471P Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3496564 ARID4A c.1101A>G p.Q367Q Substitution - coding silent Skin COSM3255734 PHF14 c.807G>A p.K269K Substitution - coding silent Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1377474 SRCAP c.5625_5626insC p.P1879fs*21 Insertion - Frameshift Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2788385 ELP3 c.511G>A p.G171S Substitution - Missense Large_intestine COSM253895 ZMYND8 c.2074G>C p.E692Q Substitution - Missense Urinary_tract COSM278971 ARID2 c.940C>T p.R314C Substitution - Missense Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4384160 MLL5 c.4754G>A p.G1585E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM136020 SUV420H1 c.1907C>T p.P636L Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1629540 MGA c.6396T>C p.V2132V Substitution - coding silent Liver COSM5758640 SFMBT2 c.2244G>A p.S748S Substitution - coding silent Bone COSM697921 BAZ1A c.3409G>C p.D1137H Substitution - Missense Lung COSM3814980 ARID4A c.375A>T p.L125F Substitution - Missense Breast COSM4170033 TET2 c.3892T>G p.C1298G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4072446 MBD1 c.1268C>T p.P423L Substitution - Missense Stomach COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM5392252 EYA2 c.213G>A p.Q71Q Substitution - coding silent Skin COSM1606210 KMT2D c.4067C>A p.S1356Y Substitution - Missense Liver COSM3870947 KDM2B c.609C>T p.I203I Substitution - coding silent Skin COSM139747 KMT2C c.6547C>T p.P2183S Substitution - Missense Skin COSM1330096 SND1 c.969G>A p.L323L Substitution - coding silent Ovary COSM4728353 SMARCD2 c.1261C>T p.R421* Substitution - Nonsense Large_intestine COSM4438853 ACTL6B c.137C>T p.A46V Substitution - Missense Oesophagus COSM5654237 ARID2 c.2715A>C p.Q905H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3304340 KMT2C c.2895T>C p.S965S Substitution - coding silent Pancreas COSM3624655 BAG6 c.1340C>T p.P447L Substitution - Missense Skin COSM1352570 PRDM10 c.1249A>G p.T417A Substitution - Missense Large_intestine COSM932766 TRIM66 c.987G>A p.S329S Substitution - coding silent Endometrium COSM1602135 ARID1A c.927G>T p.Q309H Substitution - Missense Liver COSM4605421 ASH1L c.4603C>T p.R1535C Substitution - Missense Upper_aerodigestive_tract COSM1125896 BRWD3 c.335G>A p.C112Y Substitution - Missense Endometrium COSM250047 ATRX c.3904_3905insA p.R1302fs*7 Insertion - Frameshift Central_nervous_system COSM3713960 SMC1A c.3196C>T p.R1066C Substitution - Missense Upper_aerodigestive_tract COSM1233530 ZMYM3 c.3205A>G p.N1069D Substitution - Missense Large_intestine COSM4524838 PRDM13 c.1294G>A p.E432K Substitution - Missense Skin COSM4793397 ADNP c.1754A>G p.N585S Substitution - Missense Liver COSM22618 MEN1 c.435C>G p.S145R Substitution - Missense Pancreas COSM5009881 NCOA6 c.2505C>G p.A835A Substitution - coding silent Large_intestine COSM3949277 TDRD6 c.4594G>T p.E1532* Substitution - Nonsense Lung COSM3515530 PHF12 c.1570T>A p.S524T Substitution - Missense Skin COSM1491247 TAF1 c.3495C>T p.L1165L Substitution - coding silent Breast COSM1321879 KMT2A c.9959G>A p.S3320N Substitution - Missense Ovary COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1002 SMARCB1 c.118C>T p.R40* Substitution - Nonsense Skin COSM34039 IDH2 c.514A>T p.R172W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34039 IDH2 c.514A>T p.R172W Substitution - Missense Central_nervous_system COSM39949 CHD4 c.4601G>A p.G1534E Substitution - Missense Central_nervous_system COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM83884 ARID1A c.3826C>T p.R1276* Substitution - Nonsense Biliary_tract COSM50589 PHF19 c.1496C>T p.P499L Substitution - Missense Breast COSM78093 KMT2A c.10648G>C p.G3550R Substitution - Missense Ovary COSM75575 NCOA2 c.3617T>G p.L1206R Substitution - Missense Ovary COSM71774 KAT6B c.3581A>T p.Q1194L Substitution - Missense Ovary COSM96393 ASXL1 c.1976G>A p.G659D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87107 TET2 c.2604T>G p.F868L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144221 ATRX c.6331C>T p.R2111* Substitution - Nonsense Central_nervous_system COSM41706 TET2 c.4354C>T p.R1452* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM166305 TET2 c.2576_2577insAGAC p.Q860fs*13 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM169509 BRWD1 c.3672G>A p.A1224A Substitution - coding silent Large_intestine COSM185219 MYST1 c.292C>T p.R98W Substitution - Missense Large_intestine COSM219996 KAT6B c.6129C>T p.H2043H Substitution - coding silent Prostate COSM219574 PHF16 c.2094G>T p.L698F Substitution - Missense Breast COSM212790 ARID2 c.2455C>T p.Q819* Substitution - Nonsense Breast COSM223698 ARID4A c.2384G>A p.R795K Substitution - Missense Skin COSM220685 KMT2D c.7249C>T p.R2417* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM231373 HDAC5 c.1328C>T p.S443F Substitution - Missense Skin COSM252813 SIRT5 c.4C>T p.R2* Substitution - Nonsense Ovary COSM268076 KMT2D c.7955G>A p.R2652Q Substitution - Missense Large_intestine COSM302465 KDM5A c.2718A>C p.E906D Substitution - Missense Central_nervous_system COSM342306 PRDM2 c.2362G>A p.G788R Substitution - Missense Lung COSM340281 KMT2C c.980G>T p.C327F Substitution - Missense Lung COSM365078 BRD7 c.151G>T p.D51Y Substitution - Missense Lung COSM370289 KDM4C c.1492G>A p.E498K Substitution - Missense Lung COSM457529 KDM6A c.654+2T>G p.? Unknown Breast COSM457530 KDM6A c.736delT p.L246fs*4 Deletion - Frameshift Breast COSM486573 CHD7 c.7395T>C p.F2465F Substitution - coding silent Kidney COSM1026069 NCOA6 c.4469C>T p.S1490L Substitution - Missense Endometrium COSM1031236 DNMT3L c.219C>T p.C73C Substitution - coding silent Endometrium COSM748355 TRRAP c.1195G>A p.V399I Substitution - Missense Large_intestine COSM705794 PHF12 c.2621C>A p.S874* Substitution - Nonsense Lung COSM724833 DIDO1 c.3645G>A p.R1215R Substitution - coding silent Lung COSM723726 ACTR5 c.1581G>A p.S527S Substitution - coding silent Biliary_tract COSM908629 ZMYM6 c.643C>A p.L215I Substitution - Missense Endometrium COSM896900 ASH1L c.8887C>T p.R2963* Substitution - Nonsense Large_intestine COSM923604 KMT2A c.11603C>A p.T3868N Substitution - Missense Endometrium COSM959477 SETD3 c.1210G>A p.A404T Substitution - Missense Endometrium COSM969484 CCDC101 c.178C>T p.R60C Substitution - Missense Stomach COSM1124898 TAF1 c.3113G>C p.R1038P Substitution - Missense Endometrium COSM1084551 ING3 c.872C>A p.S291* Substitution - Nonsense Endometrium COSM1250077 DIDO1 c.4618C>T p.Q1540* Substitution - Nonsense Oesophagus COSM1195035 BMI1 c.766G>T p.D256Y Substitution - Missense Lung COSM1169604 PBRM1 c.1637_1638delTT p.F546fs*3 Deletion - Frameshift Kidney COSM1163731 ADNP c.3047delA p.K1016fs*11 Deletion - Frameshift Large_intestine COSM1266216 SMARCA2 c.666A>G p.Q222Q Substitution - coding silent Large_intestine COSM1213485 LMNA c.1027C>T p.R343W Substitution - Missense Large_intestine COSM1221885 PRDM16 c.1344G>T p.K448N Substitution - Missense Large_intestine COSM1189395 CHD3 c.435G>C p.E145D Substitution - Missense Lung COSM1161911 KDM5C c.4219delG p.D1407fs*5 Deletion - Frameshift Kidney COSM1171974 PHF11 c.414G>C p.K138N Substitution - Missense Oesophagus COSM1312805 EZH2 c.434_435TC>AT p.F145Y Substitution - Missense Urinary_tract COSM1301878 SRCAP c.1774G>C p.E592Q Substitution - Missense Urinary_tract COSM1328000 TET2 c.2195C>A p.P732Q Substitution - Missense Ovary COSM1390020 DNMT1 c.4721G>A p.R1574Q Substitution - Missense Large_intestine COSM1440677 SIRT5 c.440G>A p.R147H Substitution - Missense Large_intestine COSM1449434 KMT2C c.5821A>G p.T1941A Substitution - Missense Large_intestine COSM1342112 ZMYM1 c.1510delA p.T506fs*15 Deletion - Frameshift Large_intestine COSM1490966 KDM6A c.781G>C p.D261H Substitution - Missense Breast COSM1474700 JMJD1C c.2371G>A p.E791K Substitution - Missense Breast COSM1492844 EP400 c.5284G>A p.G1762R Substitution - Missense Kidney COSM1625697 HCFC1 c.652A>G p.N218D Substitution - Missense Liver COSM1628186 KDM2A c.1702C>T p.R568* Substitution - Nonsense Liver COSM1680347 SETBP1 c.3586G>T p.E1196* Substitution - Nonsense Large_intestine COSM1672580 PHIP c.1378C>A p.H460N Substitution - Missense Large_intestine COSM1641360 NCOA5 c.82C>T p.R28* Substitution - Nonsense Stomach COSM1642693 NSD1 c.5887delA p.K1964fs*5 Deletion - Frameshift Stomach COSM1716512 EP300 c.4540G>A p.E1514K Substitution - Missense Upper_aerodigestive_tract COSM1664456 TAF1 c.2972C>A p.T991K Substitution - Missense Kidney COSM1736159 ATRX c.6368G>T p.G2123V Substitution - Missense Central_nervous_system COSM1744417 SMARCC2 c.1995C>G p.P665P Substitution - coding silent Biliary_tract COSM1746695 HCFC2 c.304G>T p.E102* Substitution - Nonsense Urinary_tract COSM1732533 SETD2 c.655C>T p.Q219* Substitution - Nonsense Skin COSM1756581 PHF16 c.1255G>A p.E419K Substitution - Missense Urinary_tract COSM1748374 ZMYM4 c.2055C>T p.L685L Substitution - coding silent Urinary_tract COSM1965091 KAT6B c.1344T>C p.G448G Substitution - coding silent Large_intestine COSM1978335 RAG2 c.619C>T p.H207Y Substitution - Missense Skin COSM2080241 ZMYM4 c.866A>C p.K289T Substitution - Missense Large_intestine COSM2145471 ERCC6 c.1671T>C p.R557R Substitution - coding silent Upper_aerodigestive_tract COSM2098545 CHD4 c.2343C>T p.S781S Substitution - coding silent Prostate COSM2783384 ATXN7 c.1174A>G p.K392E Substitution - Missense Large_intestine COSM2828731 SETD5_ENST00000402198 c.267A>T p.V89V Substitution - coding silent Upper_aerodigestive_tract COSM2874501 PRDM14 c.1662C>A p.I554I Substitution - coding silent Large_intestine COSM2889482 DNMT3B c.248A>G p.D83G Substitution - Missense Large_intestine COSM2911421 NCOA1 c.2465A>G p.E822G Substitution - Missense Large_intestine COSM3347147 EHMT2 c.2563delC p.L855fs*36 Deletion - Frameshift Large_intestine COSM3368938 YEATS4 c.103G>A p.G35R Substitution - Missense Thyroid COSM3501109 MGA c.6325C>T p.Q2109* Substitution - Nonsense Skin COSM3473677 POGZ c.2172T>A p.P724P Substitution - coding silent Skin COSM3642751 TRRAP c.1581C>T p.F527F Substitution - coding silent Skin COSM3597961 SETD5_ENST00000402198 c.908G>A p.G303E Substitution - Missense Skin COSM3602800 WHSC1 c.32C>T p.S11F Substitution - Missense Skin COSM3596993 ATXN7 c.1427C>T p.S476F Substitution - Missense Skin COSM3656856 TAF1L c.2355G>A p.R785R Substitution - coding silent Skin COSM3660363 FXR1 c.1191C>T p.S397S Substitution - coding silent Liver COSM3697198 PRDM9 c.1033C>T p.R345* Substitution - Nonsense Large_intestine COSM3745634 KMT2C c.1995A>G p.E665E Substitution - coding silent Prostate COSM3841467 DIDO1 c.1691G>C p.R564T Substitution - Missense Breast COSM3839737 SMEK2 c.19C>T p.R7* Substitution - Nonsense Breast COSM3824034 DHX30 c.69A>C p.P23P Substitution - coding silent Breast COSM3824366 SFMBT1 c.2097T>G p.G699G Substitution - coding silent Breast COSM3820850 CBX4 c.630G>A p.A210A Substitution - coding silent Breast COSM3891038 SETBP1 c.2187G>A p.R729R Substitution - coding silent Skin COSM4010648 MTF2 c.1054C>T p.P352S Substitution - Missense Stomach COSM3994848 EHMT2 c.67G>T p.A23S Substitution - Missense Kidney COSM4000117 PCGF2 c.519C>T p.T173T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4114055 ZBTB38 c.2295T>C p.G765G Substitution - coding silent Stomach COSM4067843 MBTD1 c.484A>G p.T162A Substitution - Missense Stomach COSM4129609 NCOR1 c.568C>T p.R190* Substitution - Nonsense Upper_aerodigestive_tract COSM4167975 SETD2 c.3382T>A p.C1128S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4389577 BRWD3 c.592-4A>C p.? Unknown Pancreas COSM4594560 KMT2C c.2591A>G p.E864G Substitution - Missense Upper_aerodigestive_tract COSM4595343 EYA2 c.931_938delATGATCTT p.M311fs*11 Deletion - Frameshift Upper_aerodigestive_tract COSM4443475 PHF17 c.815G>A p.R272H Substitution - Missense Large_intestine COSM4444924 SFMBT1 c.1358C>A p.P453H Substitution - Missense Large_intestine COSM4496700 PHF13 c.480C>T p.I160I Substitution - coding silent Skin COSM4506116 NSD1 c.7116C>T p.P2372P Substitution - coding silent Skin COSM4582445 TCF20 c.4779G>A p.P1593P Substitution - coding silent Bone COSM4522571 KMT2A c.1168G>C p.E390Q Substitution - Missense Skin COSM4532583 PRDM16 c.189G>A p.K63K Substitution - coding silent Skin COSM4672083 CHD7 c.1376delG p.R459fs*4 Deletion - Frameshift Large_intestine COSM4705971 NCOA6 c.3980G>T p.S1327I Substitution - Missense Large_intestine COSM4631741 SETD5_ENST00000402198 c.771A>G p.E257E Substitution - coding silent Large_intestine COSM4748763 AP001011.3_ENST00000320876 c.5915G>A p.R1972H Substitution - Missense Stomach COSM4789139 PHF17 c.2196G>C p.Q732H Substitution - Missense Liver COSM4909501 CHD7 c.316C>T p.H106Y Substitution - Missense Liver COSM4933494 PRDM2 c.4888A>G p.S1630G Substitution - Missense Liver COSM4877695 KMT2C c.2554A>G p.T852A Substitution - Missense Prostate COSM4822762 PBRM1 c.1128C>G p.I376M Substitution - Missense Cervix COSM4949597 ARID2 c.4532delA p.E1511fs*5 Deletion - Frameshift Liver COSM4991201 DNMT1 c.933T>G p.I311M Substitution - Missense Skin COSM5029893 CHD4 c.1401T>C p.C467C Substitution - coding silent Bone COSM5034492 MBD6 c.1888G>C p.A630P Substitution - Missense Oesophagus COSM5024176 BAZ1B c.1363C>T p.R455W Substitution - Missense Bone COSM5013084 PHF23 c.904G>A p.E302K Substitution - Missense Kidney COSM5038683 BRWD3 c.5061_5075del15 p.G1691_G1695delGRGRG Deletion - In frame Liver COSM5347131 ARID1A c.6444T>G p.Y2148* Substitution - Nonsense Endometrium COSM5350693 PHF21B c.204G>T p.V68V Substitution - coding silent Lung COSM5384617 GTF3C1 c.863G>A p.R288K Substitution - Missense Skin COSM5354830 NCOA1 c.627C>T p.T209T Substitution - coding silent Large_intestine COSM5495020 NCOA7 c.2806C>T p.L936L Substitution - coding silent Biliary_tract COSM5745577 PRDM2 c.4858G>T p.A1620S Substitution - Missense Pancreas COSM5715829 ZMYM3 c.3450C>T p.N1150N Substitution - coding silent Skin COSM5600338 RAI1 c.5001C>T p.S1667S Substitution - coding silent Skin COSM5611036 TRRAP c.8922C>T p.F2974F Substitution - coding silent Skin COSM5780034 EPC1 c.2286A>G p.S762S Substitution - coding silent Breast COSM5878824 DNMT3A c.1628_1629insG p.R544fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5804471 DNMT3A c.1753A>T p.M585L Substitution - Missense Liver COSM5803252 NIPBL c.449G>C p.S150T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5820287 MBD4 c.616A>T p.N206Y Substitution - Missense Liver COSM5812078 KDM6B c.2146G>T p.E716* Substitution - Nonsense Liver COSM5907469 CHD7 c.8965G>A p.E2989K Substitution - Missense Skin COSM5925719 SIRT4 c.110C>T p.P37L Substitution - Missense Skin COSM5929834 SETBP1 c.4001G>A p.G1334E Substitution - Missense Skin COSM5911090 ATRX c.6182A>G p.K2061R Substitution - Missense Skin COSM5988497 HNF1A c.13C>A p.L5M Substitution - Missense Liver COSM5987403 PHF21A c.391A>C p.T131P Substitution - Missense Salivary_gland COSM5974398 L3MBTL2 c.737G>A p.R246Q Substitution - Missense Upper_aerodigestive_tract COSM5995012 BRPF1 c.1672C>T p.R558C Substitution - Missense Prostate COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5766180 ATRX c.?_?del? p.? Unknown Central_nervous_system COSM86077 IDH2 c.? p.R172M Substitution - Missense Central_nervous_system COSM4590343 SETBP1 c.3806A>G p.D1269G Substitution - Missense Upper_aerodigestive_tract COSM5412318 HCFC1 c.1153C>T p.P385S Substitution - Missense Skin COSM3991222 DNMT3A c.1226G>A p.W409* Substitution - Nonsense Skin COSM1235373 ARID1A c.6265C>A p.L2089I Substitution - Missense Breast COSM4681224 EPC2 c.1547T>G p.I516R Substitution - Missense Large_intestine COSM1406743 ATAD2B_ENST00000238789 c.1404delT p.F468fs*9 Deletion - Frameshift Stomach COSM5697345 SMARCA2 c.876C>T p.P292P Substitution - coding silent Soft_tissue COSM4933594 SFMBT1 c.1044T>G p.P348P Substitution - coding silent Liver COSM2154532 KMT2A c.9909A>G p.P3303P Substitution - coding silent Central_nervous_system COSM86082 KMT2C c.2418C>G p.S806S Substitution - coding silent Soft_tissue COSM295171 PHF2 c.720C>T p.C240C Substitution - coding silent Endometrium COSM908674 ZMYM4 c.1798C>T p.R600C Substitution - Missense Endometrium COSM751069 CHD7 c.2138A>C p.K713T Substitution - Missense Lung COSM4771404 PBRM1 c.974_975insA p.N325fs*4 Insertion - Frameshift Kidney COSM5401235 GABRG1 c.1257T>C p.F419F Substitution - coding silent Skin COSM4382566 PRDM12 c.290G>A p.G97D Substitution - Missense Large_intestine COSM4052974 SMEK1 c.1128G>A p.Q376Q Substitution - coding silent Stomach COSM3166319 ATAD2 c.3357C>T p.A1119A Substitution - coding silent Large_intestine COSM1640229 RTF1 c.1496A>G p.Y499C Substitution - Missense Stomach COSM85922 TET2 c.?_?insT p.?fs*? Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1637787 TDRD1 c.2444C>A p.S815* Substitution - Nonsense Bone COSM4846116 VPS72 c.1055C>T p.S352F Substitution - Missense Cervix COSM3720984 BRD7 c.846C>T p.A282A Substitution - coding silent Upper_aerodigestive_tract COSM3112823 SRCAP c.973C>T p.R325C Substitution - Missense Large_intestine COSM4637210 TDRD7 c.2814G>A p.L938L Substitution - coding silent Large_intestine COSM5562858 TRIM33 c.2129C>T p.P710L Substitution - Missense Prostate COSM5718191 RERE c.46G>A p.D16N Substitution - Missense Skin COSM5711895 SP100 c.1720+2_1720+3insA p.? Unknown Soft_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM4465115 SUV420H1 c.1369C>T p.H457Y Substitution - Missense Skin COSM754374 KDM4C c.1260G>A p.V420V Substitution - coding silent Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Biliary_tract COSM5757102 TRRAP c.5969A>G p.D1990G Substitution - Missense Large_intestine COSM445941 PHC3 c.627C>G p.S209R Substitution - Missense Breast COSM100055 TET2 c.4256C>G p.P1419R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4852545 INOC1 c.1053G>C p.E351D Substitution - Missense Cervix COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM401766 ASXL3 c.1830G>T p.Q610H Substitution - Missense Lung COSM170536 SCML2 c.1723C>T p.R575* Substitution - Nonsense Large_intestine COSM4439395 CHD9 c.1663C>T p.P555S Substitution - Missense Oesophagus COSM1622397 TRIM24 c.2110G>A p.A704T Substitution - Missense Liver COSM1488481 STK31 c.1141G>T p.D381Y Substitution - Missense Breast COSM423303 PBRM1 c.2217_2218insC p.E740fs*19 Insertion - Frameshift Kidney COSM5064771 PHF8 c.544G>A p.G182R Substitution - Missense Stomach COSM5032250 EYA4 c.1182G>T p.K394N Substitution - Missense Oesophagus COSM171193 TRIM28 c.2116C>T p.R706C Substitution - Missense Large_intestine COSM907737 ARID1A c.5228C>T p.T1743M Substitution - Missense Endometrium COSM1622429 JHDM1D c.2807A>T p.H936L Substitution - Missense Liver COSM5816745 PBRM1 c.2882G>T p.G961V Substitution - Missense Liver COSM4219256 PRDM2 c.2110G>C p.A704P Substitution - Missense Oesophagus COSM1272063 EZH2 c.1922A>T p.E641V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM110706 ASXL1 c.1969G>T p.E657* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3386461 CHD8 c.4298G>A p.R1433H Substitution - Missense Pancreas COSM5953049 CBX7 c.414G>A p.P138P Substitution - coding silent Oesophagus COSM4149840 ZCWPW2 c.328C>G p.P110A Substitution - Missense Ovary COSM4618957 PRMT3 c.1095C>T p.I365I Substitution - coding silent Large_intestine COSM43502 TET2 c.2671C>T p.Q891* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM317183 CREBBP c.3697A>T p.R1233W Substitution - Missense Soft_tissue COSM927111 PHF21A c.1222C>A p.P408T Substitution - Missense Endometrium COSM3367459 TAF1L c.1011G>T p.E337D Substitution - Missense Kidney COSM1629154 TDRD3 c.447A>G p.T149T Substitution - coding silent Liver COSM4725164 SETD3 c.1425G>A p.L475L Substitution - coding silent Large_intestine COSM1363345 MBD6 c.2074delC p.Q694fs*5 Deletion - Frameshift Stomach COSM3508228 GTF3C1 c.2678C>T p.P893L Substitution - Missense Skin COSM4622495 EP400 c.8491G>A p.A2831T Substitution - Missense Large_intestine COSM4993553 KDM5C c.4192C>T p.P1398S Substitution - Missense Skin COSM4854975 TP53BP1 c.36C>T p.F12F Substitution - coding silent Cervix COSM983309 BPTF c.2648A>C p.K883T Substitution - Missense Endometrium COSM1352576 PRDM10 c.542C>T p.A181V Substitution - Missense Large_intestine COSM3858411 EYA4 c.1238T>G p.I413S Substitution - Missense Stomach COSM3604094 GABRG1 c.613G>A p.E205K Substitution - Missense Skin COSM757646 TAF1 c.1417G>A p.E473K Substitution - Missense Lung COSM1966267 TAF3 c.1780G>T p.E594* Substitution - Nonsense Large_intestine COSM255106 MEN1 c.152_153delAC p.N51fs*65 Deletion - Frameshift Parathyroid COSM49156 EZH2 c.1212_1216delGAAGA p.K405fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4703373 MSH6 c.27C>A p.S9R Substitution - Missense Large_intestine COSM5589129 TCF20 c.1887G>A p.E629E Substitution - coding silent Skin COSM1753989 BRD8 c.671C>T p.S224F Substitution - Missense Upper_aerodigestive_tract COSM4689186 GTF3C1 c.571G>T p.G191W Substitution - Missense Large_intestine COSM340087 SETD1A c.2119C>T p.P707S Substitution - Missense Lung COSM5755626 DIDO1 c.28G>A p.E10K Substitution - Missense Large_intestine COSM1756919 JMJD5 c.799-2A>G p.? Unknown Urinary_tract COSM2152987 BMI1 c.552C>T p.D184D Substitution - coding silent Central_nervous_system COSM5776470 BAZ2B c.5261A>G p.Y1754C Substitution - Missense Breast COSM6012873 ING3 c.427C>T p.P143S Substitution - Missense Skin COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3858049 NCOA7 c.2734G>A p.G912R Substitution - Missense Large_intestine COSM4611398 ZMYM2 c.3124delA p.K1044fs*33 Deletion - Frameshift Large_intestine COSM1586685 CHD4 c.915T>C p.R305R Substitution - coding silent Endometrium COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4545342 TDRKH c.375G>T p.V125V Substitution - coding silent Skin COSM3965483 ZMYM3 c.802G>C p.D268H Substitution - Missense Lung COSM5565570 RAD54L c.958C>T p.R320W Substitution - Missense Prostate COSM110750 TET2 c.4279G>T p.D1427Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Biliary_tract COSM2893394 HAT1 c.1224T>G p.D408E Substitution - Missense Large_intestine COSM1479895 BPTF c.427_429delGAG p.E148delE Deletion - In frame Breast COSM6008968 KMT2D c.9308C>G p.S3103* Substitution - Nonsense Large_intestine COSM4693849 JMJD1C c.613G>A p.E205K Substitution - Missense Large_intestine COSM4007324 ZMYM6 c.3821T>G p.F1274C Substitution - Missense Stomach COSM921418 BTAF1 c.581A>C p.E194A Substitution - Missense Endometrium COSM1072926 NCOA7 c.1107G>T p.E369D Substitution - Missense Endometrium COSM4972939 ZMYM6 c.1166G>A p.G389E Substitution - Missense Oesophagus COSM673640 ADNP c.284A>G p.N95S Substitution - Missense Upper_aerodigestive_tract COSM4506303 TRRAP c.7113C>T p.L2371L Substitution - coding silent Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3775750 WHSC1 c.583C>G p.P195A Substitution - Missense Urinary_tract COSM252979 CLOCK c.368delT p.L123fs*1 Deletion - Frameshift Large_intestine COSM5105952 ARID1B c.189_190insCAGCAG p.Q73_H74insQQ Insertion - In frame Upper_aerodigestive_tract COSM1716184 EZH2 c.? p.A682G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4291451 NCOA6 c.831A>G p.Q277Q Substitution - coding silent Large_intestine COSM5637056 TP53BP1 c.3302C>T p.S1101F Substitution - Missense Oesophagus COSM3398223 KDM4D c.1351C>T p.R451C Substitution - Missense Central_nervous_system COSM3545799 PHF20 c.651G>A p.E217E Substitution - coding silent Skin COSM1426603 PRDM5 c.740C>T p.S247L Substitution - Missense Oesophagus COSM126964 TDRKH c.838C>T p.Q280* Substitution - Nonsense Upper_aerodigestive_tract COSM3640351 BAZ1B c.750G>T p.K250N Substitution - Missense Skin COSM23399 MEN1 c.1405G>T p.E469* Substitution - Nonsense Parathyroid COSM961519 MGA c.4878C>T p.V1626V Substitution - coding silent Skin COSM2919921 CREBBP c.5573G>A p.R1858H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM22659 MEN1 c.533_534insC p.E179fs*1 Insertion - Frameshift Gastrointestinal_tract_(site_indeterminate) COSM125333 PHF14 c.1676G>T p.W559L Substitution - Missense Upper_aerodigestive_tract COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3781053 CHD4 c.3331C>T p.R1111C Substitution - Missense Pancreas COSM33306 KMT2C c.5716C>T p.R1906* Substitution - Nonsense Endometrium COSM3366864 SMARCD3 c.881G>A p.G294E Substitution - Missense Kidney COSM1300052 MPHOSPH8 c.1235G>C p.R412T Substitution - Missense Urinary_tract COSM3438391 ERCC6 c.907A>G p.T303A Substitution - Missense Skin COSM3615958 NIPBL c.5557C>T p.L1853L Substitution - coding silent Skin COSM4040535 ATF7IP c.1661G>A p.R554Q Substitution - Missense Stomach COSM1426219 TET2 c.4352G>A p.R1451Q Substitution - Missense Kidney COSM3859996 ARID1B c.5420A>G p.D1807G Substitution - Missense Stomach COSM164596 SRCAP c.3374C>G p.S1125C Substitution - Missense Breast COSM4913375 KAT2B c.1958G>T p.R653L Substitution - Missense Liver COSM51222 ARID1A c.4011_4012delTT p.S1338fs*106 Deletion - Frameshift Ovary COSM3755439 PCGF2 c.435C>T p.D145D Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4806245 SUZ12 c.1824A>G p.E608E Substitution - coding silent Liver COSM1176797 FMR1 c.610G>A p.E204K Substitution - Missense Endometrium COSM214254 SETD2 c.2143C>T p.Q715* Substitution - Nonsense Breast COSM23398 MEN1 c.249_252delGTCT p.I85fs*33 Deletion - Frameshift Parathyroid COSM6000434 KMT2D c.3985A>G p.N1329D Substitution - Missense Prostate COSM3397962 PHRF1 c.2809C>T p.P937S Substitution - Missense Central_nervous_system COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3767456 SETD2 c.3757G>A p.E1253K Substitution - Missense Liver COSM51200 ASXL1 c.1888_1910del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5581703 MTF2 c.1243C>A p.Q415K Substitution - Missense Skin COSM331329 MSH6 c.2041C>T p.L681F Substitution - Missense Lung COSM1189582 JMJD6 c.865G>A p.A289T Substitution - Missense Lung COSM53035 EZH2 c.1513_1513delG p.A505fs*9 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM255199 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM488386 PHF16 c.579A>C p.L193L Substitution - coding silent Kidney COSM4714032 PHF8 c.1727G>A p.G576D Substitution - Missense Large_intestine COSM3637053 HDAC9 c.1699G>A p.E567K Substitution - Missense Skin COSM1620094 NSD1 c.7224C>T p.D2408D Substitution - coding silent Liver COSM2813652 SMARCA4 c.2635A>G p.I879V Substitution - Missense Large_intestine COSM5414599 KDM5C c.2248C>T p.R750W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3701785 MSL3 c.315G>A p.R105R Substitution - coding silent Liver COSM4835359 ZMYM6 c.3G>C p.M1I Substitution - Missense Cervix COSM1580073 BAP1 c.1357A>G p.K453E Substitution - Missense Central_nervous_system COSM4791109 KMT2C c.1309A>T p.I437L Substitution - Missense Liver COSM1566409 BRD1 c.2988A>T p.R996S Substitution - Missense Large_intestine COSM4481564 HDAC9 c.2520C>T p.I840I Substitution - coding silent Skin COSM1453233 TRRAP c.11044C>T p.R3682* Substitution - Nonsense Large_intestine COSM444472 BRWD1 c.5140G>T p.E1714* Substitution - Nonsense Breast COSM5437235 SRCAP c.2995C>T p.Q999* Substitution - Nonsense Oesophagus COSM5019178 CREBBP c.7212A>G p.E2404E Substitution - coding silent Soft_tissue COSM457761 PHF8 c.1141G>A p.G381S Substitution - Missense Breast COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM6012528 SHPRH c.4708G>T p.E1570* Substitution - Nonsense Skin COSM3722545 KMT2D c.6584delC p.P2195fs*20 Deletion - Frameshift Upper_aerodigestive_tract COSM6017026 MBD1 c.1779G>A p.R593R Substitution - coding silent Skin COSM5878839 DNMT3A c.1474G>T p.D492Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM352452 KDM5A c.659G>T p.R220L Substitution - Missense Lung COSM150424 KMT2C c.5068A>C p.R1690R Substitution - coding silent Soft_tissue COSM1122192 HDAC6 c.1728C>T p.F576F Substitution - coding silent Large_intestine COSM71584 MBD3 c.736G>C p.D246H Substitution - Missense Ovary COSM3901349 NCOA2 c.783A>C p.R261S Substitution - Missense Stomach COSM5795409 BRWD1 c.502T>C p.F168L Substitution - Missense Breast COSM1179669 KMT2C c.943G>A p.G315S Substitution - Missense Soft_tissue COSM21486 HNF1A c.872delC p.P291fs*51 Deletion - Frameshift Large_intestine COSM5701405 CREBBP c.1108_1109insT p.R370fs*57 Insertion - Frameshift Soft_tissue COSM3633857 TIF1 c.2125G>A p.E709K Substitution - Missense Skin COSM5669053 BPTF c.2779A>G p.T927A Substitution - Missense Soft_tissue COSM5597682 SUV420H1 c.1028C>T p.P343L Substitution - Missense Skin COSM3546241 ACTR5 c.1017G>A p.M339I Substitution - Missense Skin COSM3957565 CREBBP c.4627G>T p.D1543Y Substitution - Missense Lung COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM405183 PRDM12 c.570+1_570+2delGT p.? Unknown Large_intestine COSM5724242 MYST1 c.715G>A p.E239K Substitution - Missense Skin COSM1671898 KDM3B c.2743C>T p.R915C Substitution - Missense Large_intestine COSM43446 TET2 c.2428C>T p.Q810* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Bone COSM308680 KMT2A c.1378_1379insA p.S462fs*19 Insertion - Frameshift Lung COSM2802648 KDM6B c.4582A>G p.S1528G Substitution - Missense Large_intestine COSM470598 INOC1 c.2575A>G p.R859G Substitution - Missense Kidney COSM691511 HCFC2 c.1505T>G p.L502R Substitution - Missense Lung COSM1684512 MYST2 c.1381delT p.S461fs*22 Deletion - Frameshift Large_intestine COSM5972056 NCOR1 c.4610G>C p.G1537A Substitution - Missense Upper_aerodigestive_tract COSM1611966 DOT1L c.2744A>G p.E915G Substitution - Missense Liver COSM5972473 CBX4 c.533A>G p.K178R Substitution - Missense Upper_aerodigestive_tract COSM3388294 BAHCC1 c.349G>A p.A117T Substitution - Missense Pancreas COSM3450159 PHRF1 c.219C>T p.S73S Substitution - coding silent Skin COSM255058 KMT2A c.4427_4429delGTC p.R1478delR Deletion - In frame Urinary_tract COSM41214 TET2 c.4062delA p.A1355fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Upper_aerodigestive_tract COSM4170433 KMT2D c.6114delC p.S2039fs*13 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3546367 CHD6 c.3336G>A p.W1112* Substitution - Nonsense Skin COSM971421 CHD9 c.3321G>T p.K1107N Substitution - Missense Endometrium COSM1411839 CHD6 c.2500C>T p.R834W Substitution - Missense Large_intestine COSM5784273 ZMYM5 c.325C>G p.Q109E Substitution - Missense Breast COSM4750299 BRD4 c.542G>C p.R181P Substitution - Missense Stomach COSM5056424 GATAD2A c.856C>T p.R286W Substitution - Missense Stomach COSM1752461 HDAC4 c.390C>T p.H130H Substitution - coding silent Urinary_tract COSM4591023 KMT2C c.871C>T p.L291F Substitution - Missense Upper_aerodigestive_tract COSM4590050 PRDM10 c.1332A>C p.E444D Substitution - Missense Upper_aerodigestive_tract COSM4120728 BRPF1 c.648C>T p.D216D Substitution - coding silent Stomach COSM88749 CREBBP c.4336C>T p.R1446C Substitution - Missense Upper_aerodigestive_tract COSM709531 SETBP1 c.1112G>A p.G371D Substitution - Missense Lung COSM1035250 BRD1 c.1213G>A p.E405K Substitution - Missense Endometrium COSM4952156 TDRD7 c.1702T>A p.C568S Substitution - Missense Liver COSM908607 ZMYM6 c.3691G>A p.E1231K Substitution - Missense Endometrium COSM1044870 SETMAR c.1149A>G p.E383E Substitution - coding silent Endometrium COSM1439941 HDAC2 c.1375delA p.T459fs*>30 Deletion - Frameshift Large_intestine COSM78354 PRMT5 c.1006C>G p.Q336E Substitution - Missense Ovary COSM1370234 ARID4A c.1962C>T p.D654D Substitution - coding silent Large_intestine COSM2064478 HCFC2 c.1223A>G p.N408S Substitution - Missense Large_intestine COSM3394228 TDRD6 c.684G>A p.S228S Substitution - coding silent Pancreas COSM1616125 AIRE c.1633T>A p.S545T Substitution - Missense Liver COSM4802777 BAZ2A_ENST00000379441 c.3742C>T p.L1248L Substitution - coding silent Liver COSM427247 MGMT c.198G>A p.L66L Substitution - coding silent Breast COSM3445301 PRDM10 c.561G>A p.P187P Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5570210 TDRD3 c.1828A>G p.T610A Substitution - Missense Prostate COSM4669563 CBX2 c.1420G>A p.A474T Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4037221 EED c.552G>T p.K184N Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM53011 EZH2 c.1033G>A p.A345T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1021263 MSH6 c.1004_1005delAT p.T336fs*11 Deletion - Frameshift Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3061741 TCF20 c.5054C>T p.S1685L Substitution - Missense Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4454582 TDRD6 c.5315A>G p.K1772R Substitution - Missense Skin COSM3488184 RBBP4 c.936C>T p.S312S Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1643602 MYST3 c.2046G>A p.P682P Substitution - coding silent Stomach COSM1583094 DNMT3A c.2043_2043delC p.M682fs*23 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM98824 STK31 c.1015C>A p.Q339K Substitution - Missense Stomach COSM33732 IDH2 c.515G>T p.R172M Substitution - Missense Central_nervous_system COSM4625710 JARID2 c.3120C>T p.G1040G Substitution - coding silent Large_intestine COSM1734273 RBBP4 c.232_234delCAT p.H78delH Deletion - In frame Pancreas COSM88787 EP300 c.6574_6585del12 p.Q2192_Q2195delQQQQ Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM41741 TET2 c.5618T>C p.I1873T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5929899 KDM4B c.1571C>T p.P524L Substitution - Missense Skin COSM3970253 BPTF c.2552G>A p.R851Q Substitution - Missense Oesophagus COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM5417872 TDRD1 c.3089T>C p.I1030T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4079926 UHRF1 c.760G>A p.A254T Substitution - Missense Stomach COSM1583427 SETDB1 c.3214G>T p.G1072* Substitution - Nonsense Endometrium COSM4548304 SETBP1 c.4438G>A p.D1480N Substitution - Missense Skin COSM5768776 KMT2A c.1732A>G p.I578V Substitution - Missense Breast COSM3304185 KMT2C c.5514T>C p.P1838P Substitution - coding silent Large_intestine COSM41899 TET2 c.? p.S1848* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1250605 DPF1 c.728C>T p.P243L Substitution - Missense Oesophagus COSM4593941 L3MBTL2 c.697G>C p.A233P Substitution - Missense Bone COSM133001 ARID1A c.5548_5548delG p.D1850fs*33 Deletion - Frameshift Large_intestine COSM4593941 L3MBTL2 c.697G>C p.A233P Substitution - Missense Soft_tissue COSM979869 HDAC5 c.1444C>T p.R482W Substitution - Missense Endometrium COSM3636974 HDAC9 c.459C>T p.F153F Substitution - coding silent Skin COSM3596995 ATXN7 c.1898G>T p.G633V Substitution - Missense Skin COSM5631412 TAF3 c.2147A>G p.K716R Substitution - Missense Oesophagus COSM226298 ARID4A c.1316C>T p.P439L Substitution - Missense Skin COSM1740655 DNMT3B c.1591C>T p.R531C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1675224 ERCC6 c.247G>A p.V83I Substitution - Missense Breast COSM5435199 SMARCA1 c.2246C>T p.P749L Substitution - Missense Oesophagus COSM1176879 TRRAP c.3251C>T p.S1084L Substitution - Missense Breast COSM4590631 GLYR1 c.1377C>G p.H459Q Substitution - Missense Upper_aerodigestive_tract COSM5425062 PHC2 c.1328C>T p.T443I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM1002 SMARCB1 c.118C>T p.R40* Substitution - Nonsense Soft_tissue COSM34039 IDH2 c.514A>T p.R172W Substitution - Missense Liver COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Endometrium COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM36205 ASXL1 c.3306G>T p.E1102D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43480 TET2 c.3508_3508delC p.Q1170fs*56 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85920 TET2 c.4447G>T p.E1483* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM52027 PBRM1 c.1850_1851insT p.L617fs* Insertion - Frameshift Kidney COSM78472 SETD1A c.5029G>C p.D1677H Substitution - Missense Ovary COSM80550 SMARCA4 c.3324C>T p.L1108L Substitution - coding silent Ovary COSM94708 KMT2A c.7748C>T p.S2583F Substitution - Missense Lung COSM109683 SMYD4 c.190G>A p.D64N Substitution - Missense Skin COSM124348 MBD5 c.3253G>A p.V1085I Substitution - Missense Pancreas COSM187721 EP300 c.4886C>T p.A1629V Substitution - Missense Endometrium COSM213583 CHD7 c.4853G>T p.W1618L Substitution - Missense Breast COSM237580 JHDM1D c.1716G>A p.A572A Substitution - coding silent Prostate COSM254573 BTAF1 c.4850C>G p.S1617* Substitution - Nonsense Urinary_tract COSM268947 CREBBP c.5087A>G p.H1696R Substitution - Missense Large_intestine COSM251369 ARID2 c.1507_1508insAG p.A503fs*4 Insertion - Frameshift Liver COSM258157 TDRD6 c.1102C>T p.R368* Substitution - Nonsense Large_intestine COSM284219 PRDM15 c.2641C>T p.R881* Substitution - Nonsense Large_intestine COSM287238 CHD7 c.3566G>A p.R1189H Substitution - Missense Large_intestine COSM276083 MLL5 c.2621G>A p.R874Q Substitution - Missense Endometrium COSM322806 PRDM9 c.2627G>C p.C876S Substitution - Missense Lung COSM349180 SRCAP c.9136G>T p.G3046C Substitution - Missense Lung COSM396040 DHX30 c.2213T>C p.I738T Substitution - Missense Lung COSM418801 HDAC4 c.936G>A p.A312A Substitution - coding silent Urinary_tract COSM428822 PRMT3 c.435C>T p.P145P Substitution - coding silent Upper_aerodigestive_tract COSM435531 CTCF c.781+2T>G p.? Unknown Endometrium COSM455832 TAF1L c.760C>T p.R254* Substitution - Nonsense Skin COSM534905 PRDM16 c.1683C>T p.A561A Substitution - coding silent Breast COSM915009 TDRD1 c.612C>T p.I204I Substitution - coding silent Endometrium COSM941561 SMARCC2 c.1319C>A p.A440D Substitution - Missense Endometrium COSM939961 KMT2D c.15669A>C p.K5223N Substitution - Missense Endometrium COSM748329 TRRAP c.7668C>A p.P2556P Substitution - coding silent Prostate COSM745619 HDAC9 c.1348A>G p.N450D Substitution - Missense Lung COSM745855 KMT2C c.4349A>G p.D1450G Substitution - Missense Lung COSM723117 ASXL1 c.3519G>C p.L1173F Substitution - Missense Lung COSM945407 ING1 c.625G>A p.E209K Substitution - Missense Biliary_tract COSM946183 RNF17 c.399G>T p.K133N Substitution - Missense Endometrium COSM1111296 PHF2 c.1368C>T p.V456V Substitution - coding silent Endometrium COSM1122196 HDAC6 c.2122C>T p.P708S Substitution - Missense Endometrium COSM1123035 SMC1A c.1756C>T p.R586W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1123263 PHF8 c.2845C>A p.L949I Substitution - Missense Endometrium COSM1130015 DNMT1 c.1016G>C p.R339P Substitution - Missense Prostate COSM1093605 TRRAP c.3646C>T p.R1216W Substitution - Missense Endometrium COSM1093645 TRRAP c.5629G>A p.A1877T Substitution - Missense Endometrium COSM1087509 KMT2C c.14104G>A p.A4702T Substitution - Missense Endometrium COSM1082912 ACTL6B c.863A>G p.N288S Substitution - Missense Endometrium COSM1169574 PBRM1 c.442A>T p.R148* Substitution - Nonsense Kidney COSM1184473 BAZ1A c.2819A>C p.K940T Substitution - Missense Large_intestine COSM1258624 MYST3 c.1270C>T p.R424W Substitution - Missense Oesophagus COSM1190873 PRDM4 c.2392_2395delTCTG p.S798fs*>3 Deletion - Frameshift Lung COSM1190289 ADNP c.3064G>T p.D1022Y Substitution - Missense Lung COSM1606521 CHD4 c.5084G>A p.R1695H Substitution - Missense Liver COSM1380020 CDYL2 c.782C>T p.T261M Substitution - Missense Stomach COSM1363776 CHD4 c.417G>T p.E139D Substitution - Missense Prostate COSM1363779 CHD4 c.218delA p.K73fs*129 Deletion - Frameshift Biliary_tract COSM1351657 KMT2A c.9299delA p.I3102fs*3 Deletion - Frameshift Thyroid COSM1355797 MEN1 c.989G>A p.R330H Substitution - Missense Adrenal_gland COSM1533438 PHF20 c.2134G>T p.D712Y Substitution - Missense Liver COSM1487704 BRPF3 c.2790C>G p.L930L Substitution - coding silent Breast COSM1473878 RBBP4 c.1194C>T p.I398I Substitution - coding silent Breast COSM1611272 CXXC1 c.1678G>A p.A560T Substitution - Missense Liver COSM1618460 PRMT10 c.2470A>G p.M824V Substitution - Missense Liver COSM1624022 MYST3 c.4772G>T p.G1591V Substitution - Missense Liver COSM1625903 KDM6A c.963G>A p.W321* Substitution - Nonsense Liver COSM1622393 TRIM24 c.329C>T p.S110L Substitution - Missense Liver COSM1636736 BAZ2A_ENST00000379441 c.1844G>C p.R615P Substitution - Missense Bone COSM1668761 DNMT3A c.667G>T p.G223* Substitution - Nonsense Lung COSM1704630 KMT2A c.4622C>T p.P1541L Substitution - Missense Skin COSM1704961 CHD4 c.4622C>T p.P1541L Substitution - Missense Skin COSM1720580 STK31 c.902A>G p.K301R Substitution - Missense Skin COSM1708082 TP53BP1 c.178G>A p.D60N Substitution - Missense Skin COSM1716568 BAP1 c.581-?_659+?del p.? Unknown Pleura COSM1755318 ACTB c.434C>T p.S145F Substitution - Missense Urinary_tract COSM1742424 CHD4 c.1618G>C p.E540Q Substitution - Missense Urinary_tract COSM1748373 ZMYM1 c.3024A>T p.T1008T Substitution - coding silent Urinary_tract COSM2023495 PWWP2B c.1570C>T p.R524* Substitution - Nonsense Large_intestine COSM2150552 PHF17 c.448T>A p.W150R Substitution - Missense Central_nervous_system COSM3304448 KMT2C c.2410C>G p.L804V Substitution - Missense Oesophagus COSM3296126 MBD5 c.1276G>A p.V426I Substitution - Missense Upper_aerodigestive_tract COSM3382246 WHSC1L1 c.1656T>C p.N552N Substitution - coding silent Pancreas COSM3396084 BAZ2A c.4686G>T p.Q1562H Substitution - Missense Prostate COSM3488856 ZMYM6 c.3690C>T p.F1230F Substitution - coding silent Skin COSM3443989 KMT2A c.7265C>T p.S2422F Substitution - Missense Skin COSM3440605 KAT6B c.1352C>T p.S451L Substitution - Missense Skin COSM3546350 CHD6 c.7623C>T p.P2541P Substitution - coding silent Skin COSM3524737 AP001011.3_ENST00000320876 c.2337G>A p.M779I Substitution - Missense Skin COSM3801842 TDRKH c.1474G>A p.A492T Substitution - Missense Stomach COSM3796210 BAHCC1 c.5866C>G p.Q1956E Substitution - Missense Urinary_tract COSM3787522 L3MBTL4 c.1374-1G>A p.? Unknown Pancreas COSM3853978 NSD1 c.6116G>A p.R2039H Substitution - Missense Stomach COSM3936108 CHD4 c.5003A>G p.E1668G Substitution - Missense Oesophagus COSM3926398 WDR5 c.396C>T p.V132V Substitution - coding silent Skin COSM3922782 TRIM24 c.1251C>T p.I417I Substitution - coding silent Skin COSM3875091 PHF3 c.5339T>A p.I1780N Substitution - Missense Stomach COSM3889462 PHF12 c.1358C>T p.P453L Substitution - Missense Skin COSM4006466 DAXX c.84C>T p.L28L Substitution - coding silent Urinary_tract COSM3993243 ACTR8 c.288A>G p.G96G Substitution - coding silent Kidney COSM4099502 PCNA c.631T>C p.Y211H Substitution - Missense Stomach COSM4101707 PRDM15 c.3915G>A p.K1305K Substitution - coding silent Stomach COSM4145728 PHF21A c.975C>A p.S325R Substitution - Missense Upper_aerodigestive_tract COSM4162018 KMT2C c.2315C>T p.S772L Substitution - Missense Upper_aerodigestive_tract COSM4170824 PHF23 c.1057A>G p.M353V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4257962 GTF3C1 c.897C>T p.N299N Substitution - coding silent Large_intestine COSM4596655 SETD1B c.515C>G p.P172R Substitution - Missense Upper_aerodigestive_tract COSM4414646 POGZ c.2079C>T p.S693S Substitution - coding silent Kidney COSM4445229 CHD8 c.4562delA p.N1521fs*18 Deletion - Frameshift Large_intestine COSM4444571 NCOR1 c.1675G>T p.E559* Substitution - Nonsense Large_intestine COSM4567649 KDM5C c.805_806CC>TT p.P269F Substitution - Missense Skin COSM4581723 DNMT3B c.1446C>T p.C482C Substitution - coding silent Bone COSM4476332 ASXL3 c.1181C>T p.P394L Substitution - Missense Skin COSM4717880 PRMT3 c.1366_1367insAT p.F459fs*42 Insertion - Frameshift Large_intestine COSM4717509 PRDM5 c.1272A>G p.L424L Substitution - coding silent Large_intestine COSM4725144 SETD1A c.3475C>T p.P1159S Substitution - Missense Large_intestine COSM4742937 ZMYM6 c.1136C>T p.P379L Substitution - Missense Large_intestine COSM4622200 PHRF1 c.2154C>A p.G718G Substitution - coding silent Large_intestine COSM4609441 EHMT1 c.565G>T p.D189Y Substitution - Missense Adrenal_gland COSM4611188 RING1 c.755delC p.S254fs*31 Deletion - Frameshift Large_intestine COSM4637293 MBD6 c.981G>A p.A327A Substitution - coding silent Large_intestine COSM4648884 NIPBL c.1254A>G p.Q418Q Substitution - coding silent Large_intestine COSM4800407 NCOR1 c.313G>A p.E105K Substitution - Missense Liver COSM4927679 ZMYND8 c.621A>G p.E207E Substitution - coding silent Liver COSM4853095 KMT2C c.7258C>G p.L2420V Substitution - Missense Cervix COSM4972639 PHC3 c.2583T>A p.T861T Substitution - coding silent Oesophagus COSM5032981 CREBBP c.3729G>A p.E1243E Substitution - coding silent Oesophagus COSM4971505 EYA4 c.1078_1083delCCCTCC p.S361_P362delSP Deletion - In frame Central_nervous_system COSM5009751 TAF1L c.4908T>C p.D1636D Substitution - coding silent Large_intestine COSM5366564 HDAC10 c.1129A>C p.R377R Substitution - coding silent Large_intestine COSM5384614 GTF3C1 c.1578C>T p.H526H Substitution - coding silent Skin COSM5516920 ARID1A c.4330G>T p.E1444* Substitution - Nonsense Biliary_tract COSM5472196 ARID1B c.1847A>G p.D616G Substitution - Missense Large_intestine COSM5624347 NCOR1 c.1879C>G p.R627G Substitution - Missense Oesophagus COSM5770649 ZMYM6 c.1185C>G p.A395A Substitution - coding silent Breast COSM5746636 EYA4 c.1839+2T>C p.? Unknown Pancreas COSM5725274 ATRX c.5921G>A p.G1974E Substitution - Missense Skin COSM5587119 ACTR5 c.786A>T p.K262N Substitution - Missense Skin COSM5580321 BAZ2A_ENST00000379441 c.1043C>T p.A348V Substitution - Missense Skin COSM5691383 ING5 c.187G>T p.E63* Substitution - Nonsense Soft_tissue COSM5762881 EZH2 c.198_199insCA p.P67fs*6 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5883686 EP300 c.1678G>A p.A560T Substitution - Missense Upper_aerodigestive_tract COSM5945414 ASXL1 c.2360C>A p.T787N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5904131 TRIM33 c.2746C>T p.P916S Substitution - Missense Skin COSM5925662 CHD4 c.4780-8C>T p.? Unknown Skin COSM5909054 TDRD1 c.1831+5G>A p.? Unknown Skin COSM5956081 MLL5 c.2544C>G p.V848V Substitution - coding silent Upper_aerodigestive_tract COSM5991259 CHD9 c.4874A>T p.N1625I Substitution - Missense Prostate COSM6003117 BPTF c.5537G>T p.G1846V Substitution - Missense Prostate COSM6013184 EYA1 c.1743G>A p.M581I Substitution - Missense Skin COSM5970340 SUV420H1 c.1244T>C p.M415T Substitution - Missense Upper_aerodigestive_tract COSM5945703 ATRX c.? p.K1332fs*? Frameshift Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4167267 TET2 c.? p.F1287L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5347215 ARID1A c.?_?ins? p.F2251fs*? Insertion - Frameshift Endometrium COSM43413 TET2 c.?_?ins? p.?fs Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41880 TET2 c.? p.R1896S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1666676 SETBP1 c.? p.I871T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5467721 KIAA2026_ENST00000399933 c.1510G>A p.V504I Substitution - Missense Large_intestine COSM1108 SMARCB1 c.? p.? Unknown Central_nervous_system COSM1736483 PHF3 c.5908G>C p.E1970Q Substitution - Missense Central_nervous_system COSM1638653 KAT6B c.5550C>T p.S1850S Substitution - coding silent Stomach COSM1096253 PHF20L1 c.376C>T p.R126C Substitution - Missense Large_intestine COSM5919326 HDAC9 c.543-4C>T p.? Unknown Skin COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM1299951 PHC1 c.345C>G p.S115R Substitution - Missense Urinary_tract COSM3691902 CHD3 c.254G>A p.R85Q Substitution - Missense Large_intestine COSM1611159 SMCHD1 c.1197G>T p.V399V Substitution - coding silent Liver COSM221134 KMT2D c.15098G>A p.R5033H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1109475 KIAA2026_ENST00000399933 c.1857C>T p.Y619Y Substitution - coding silent Endometrium COSM3358469 BAP1 c.229_232delGTGA p.V77fs*9 Deletion - Frameshift Kidney COSM758302 BRWD3 c.1862G>T p.G621V Substitution - Missense Lung COSM1158774 KDM6A c.792C>T p.T264T Substitution - coding silent Pancreas COSM908678 ZMYM4 c.2564A>T p.D855V Substitution - Missense Endometrium COSM5974004 NCOA6 c.504A>C p.A168A Substitution - coding silent Upper_aerodigestive_tract COSM5031212 CBX4 c.142A>G p.I48V Substitution - Missense Pancreas COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Central_nervous_system COSM1312881 KMT2C c.2758G>T p.V920L Substitution - Missense Urinary_tract COSM4092787 HDAC4 c.1064C>T p.T355M Substitution - Missense Stomach COSM3839163 DNMT3A c.1282G>C p.E428Q Substitution - Missense Breast COSM5945710 ASXL1 c.1465C>G p.R489G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3488190 PRDM16 c.788G>A p.G263D Substitution - Missense Skin COSM1565788 ACTR5 c.333G>C p.L111F Substitution - Missense Large_intestine COSM908631 ZMYM6 c.426G>A p.S142S Substitution - coding silent Endometrium COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM3821833 DNMT1 c.2716G>T p.E906* Substitution - Nonsense Breast COSM4703488 MTA1 c.2065G>A p.A689T Substitution - Missense Large_intestine COSM5232416 KAT2B c.2391_2392insA p.N798fs*9 Insertion - Frameshift Breast COSM3782083 PHF3 c.3995C>G p.P1332R Substitution - Missense Pancreas COSM3846688 MECOM c.2658C>T p.D886D Substitution - coding silent Breast COSM745829 KMT2C c.1057C>T p.L353F Substitution - Missense Lung COSM1424480 PHF7 c.937T>G p.S313A Substitution - Missense Large_intestine COSM4605814 KMT2C c.6987A>G p.G2329G Substitution - coding silent Upper_aerodigestive_tract COSM1411087 ASXL1 c.2530_2531insC p.S846fs*5 Insertion - Frameshift Large_intestine COSM4807538 KMT2D c.14332C>G p.R4778G Substitution - Missense Pancreas COSM3983954 TAF1 c.1314T>C p.P438P Substitution - coding silent Thyroid COSM3670407 TAF1L c.3434G>A p.R1145Q Substitution - Missense Central_nervous_system COSM3785411 ZMYND8 c.1578G>A p.T526T Substitution - coding silent Pancreas COSM5383245 INOC1 c.1990C>T p.R664C Substitution - Missense Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4159839 PRDM9 c.2042C>G p.T681S Substitution - Missense Upper_aerodigestive_tract COSM1666044 ELP3 c.954_955insC p.T320fs*11 Insertion - Frameshift Kidney COSM5551325 WHSC1 c.2056T>G p.C686G Substitution - Missense Prostate COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM21251 TAF1L c.5472C>A p.H1824Q Substitution - Missense Lung COSM4703379 MSH6 c.2371C>A p.R791S Substitution - Missense Large_intestine COSM254633 CREBBP c.2515C>T p.Q839* Substitution - Nonsense Urinary_tract COSM4514889 KMT2A c.9900C>A p.P3300P Substitution - coding silent Skin COSM1626429 POGZ c.1744A>G p.T582A Substitution - Missense Liver COSM3945370 KAT2B c.1670G>T p.G557V Substitution - Missense Lung COSM4272855 KDM6B c.757C>T p.P253S Substitution - Missense Biliary_tract COSM88782 EP300 c.4710A>T p.K1570N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3361370 INOC1 c.3131T>A p.L1044Q Substitution - Missense Kidney COSM468038 EP400 c.8229G>A p.Q2743Q Substitution - coding silent Prostate COSM46442 HNF1A c.133_149del17 p.D45fs*9 Deletion - Frameshift Liver COSM4771422 PBRM1 c.1953_1954AT>G p.S652fs*4 Deletion - Frameshift Kidney COSM1030727 BRWD1 c.217G>A p.V73M Substitution - Missense Endometrium COSM5735268 PRDM2 c.3713G>A p.S1238N Substitution - Missense Small_intestine COSM4060699 CREBBP c.5166G>A p.V1722V Substitution - coding silent Stomach COSM2856507 HDGFL1 c.129C>T p.F43F Substitution - coding silent Large_intestine COSM1184915 BRD8 c.292C>T p.R98W Substitution - Missense Large_intestine COSM4915651 JMJD1C c.4293C>G p.Y1431* Substitution - Nonsense Liver COSM1388493 ASXL3 c.54C>A p.F18L Substitution - Missense Large_intestine COSM4702510 KMT2C c.5072C>T p.A1691V Substitution - Missense Large_intestine COSM1443793 DAXX c.135T>C p.H45H Substitution - coding silent Large_intestine COSM1583149 DNMT3A c.1626G>T p.G542G Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4754289 ARID2 c.1805G>T p.R602M Substitution - Missense Stomach COSM5912568 BAZ1B c.1510C>T p.R504C Substitution - Missense Skin COSM3879443 SMARCD3 c.1145C>T p.T382M Substitution - Missense Stomach COSM221581 DNMT3A c.2506A>T p.R836W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM276279 NCOA1 c.986G>A p.R329K Substitution - Missense Large_intestine COSM1235374 ARID1A c.942C>G p.G314G Substitution - coding silent Breast COSM468440 KMT2D c.10514G>A p.G3505D Substitution - Missense Kidney COSM1365708 ZMYM5 c.934G>T p.E312* Substitution - Nonsense Large_intestine COSM1187149 NCOA7 c.1192T>A p.S398T Substitution - Missense Lung COSM255663 ZMYM3 c.1939C>T p.R647* Substitution - Nonsense Endometrium COSM1311840 KDM1B c.1720A>G p.T574A Substitution - Missense Urinary_tract COSM4411250 DPF1 c.739A>T p.I247F Substitution - Missense Kidney COSM1109423 KIAA2026_ENST00000399933 c.6071G>A p.C2024Y Substitution - Missense Endometrium COSM4801087 TAF1L c.3941T>C p.M1314T Substitution - Missense Liver COSM2813374 CARM1 c.1549G>A p.A517T Substitution - Missense Large_intestine COSM1191882 PHF2 c.1613C>A p.A538D Substitution - Missense Central_nervous_system COSM1267545 TCF20 c.449C>T p.S150L Substitution - Missense Oesophagus COSM41715 ASXL1 c.3202C>T p.R1068* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM2270795 MGA c.2686C>T p.R896* Substitution - Nonsense Prostate COSM4566128 ARID4A c.3129_3130GG>AA p.E1044K Substitution - Missense Skin COSM472947 CBX1 c.422C>T p.S141F Substitution - Missense Kidney COSM3883698 TRRAP c.1109C>T p.T370I Substitution - Missense Stomach COSM3724540 MEN1 c.98_105delACCTGGTG p.D33fs*81 Deletion - Frameshift Lung COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4003939 BAG6 c.500T>G p.V167G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5722289 INOC1 c.721C>T p.P241S Substitution - Missense Skin COSM1706376 HNF1A c.412_413GG>AA p.G138N Substitution - Missense Skin COSM5563331 PRDM2 c.5017C>A p.Q1673K Substitution - Missense Prostate COSM5954657 HDAC5 c.2107G>A p.V703M Substitution - Missense Upper_aerodigestive_tract COSM5945462 EP300 c.5043G>A p.W1681* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1232754 WHSC1L1 c.1690G>T p.A564S Substitution - Missense Large_intestine COSM488460 KDM5C c.2189G>T p.C730F Substitution - Missense Kidney COSM4015122 JMJD1C c.2521A>G p.K841E Substitution - Missense Stomach COSM428957 RAG2 c.1082C>T p.T361I Substitution - Missense Breast COSM4070389 CHD3 c.4205G>A p.R1402Q Substitution - Missense Stomach COSM166852 TRIM24 c.2728C>T p.R910C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3832346 KMT2C c.8653G>A p.E2885K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2036994 PHRF1 c.2978G>A p.R993H Substitution - Missense Stomach COSM3986977 KMT2D c.4748C>T p.A1583V Substitution - Missense Kidney COSM5991598 PHF6 c.225_226delAA p.G77fs*18 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM937490 ATF7IP c.26A>C p.K9T Substitution - Missense Endometrium COSM97162 PRDM1 c.183G>A p.E62fs Unknown Haematopoietic_and_lymphoid_tissue COSM5025041 SETD2 c.5060C>A p.P1687H Substitution - Missense Breast COSM1184900 BRD7 c.398A>G p.Q133R Substitution - Missense Large_intestine COSM3725952 MBD6 c.798C>T p.A266A Substitution - coding silent Lung COSM1704626 KMT2A c.3196C>T p.P1066S Substitution - Missense Skin COSM85827 ATRX c.1363A>T p.K455* Substitution - Nonsense Pancreas COSM35408 KAT6B c.3291A>G p.E1097E Substitution - coding silent Central_nervous_system COSM5725619 ARID2 c.992G>A p.G331D Substitution - Missense Skin COSM3841927 BRWD1 c.1203A>T p.E401D Substitution - Missense Breast COSM20659 TAF1L c.2553delA p.A852fs*14 Deletion - Frameshift Large_intestine COSM331329 MSH6 c.2041C>T p.L681F Substitution - Missense Large_intestine COSM3842815 TCF20 c.1817T>G p.V606G Substitution - Missense Breast COSM6006490 PRDM2 c.1198G>A p.G400S Substitution - Missense Prostate COSM4578218 MGA c.5956A>T p.I1986F Substitution - Missense Bone COSM5064451 FMR1 c.451delA p.K152fs*8 Deletion - Frameshift Stomach COSM5672148 CHD3 c.5489A>C p.H1830P Substitution - Missense Soft_tissue COSM2698484 MYST2 c.1081C>T p.R361W Substitution - Missense Large_intestine COSM3737265 CHD8 c.3450T>A p.H1150Q Substitution - Missense Soft_tissue COSM3765276 BRPF3 c.1255G>A p.E419K Substitution - Missense Central_nervous_system COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5657245 SMARCD3 c.53C>T p.P18L Substitution - Missense Soft_tissue COSM97137 PRDM1 c.183G>C p.E61fs Unknown Haematopoietic_and_lymphoid_tissue COSM28312 CHD1 c.4228G>A p.D1410N Substitution - Missense Lung COSM3620901 SIRT5 c.426C>T p.I142I Substitution - coding silent Skin COSM3886947 MGA c.4265C>T p.S1422F Substitution - Missense Skin COSM5773401 SETD1A c.3519C>T p.I1173I Substitution - coding silent Breast COSM4419035 NSD1 c.1749G>A p.E583E Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5610648 SMARCB1 c.443C>T p.S148F Substitution - Missense Skin COSM5416078 ARID1A c.4339C>T p.P1447S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2270963 TET2 c.3852_3854delCTT p.F1285del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM4495127 DNMT3L c.446C>T p.S149F Substitution - Missense Skin COSM5910388 MINA c.1147-1G>A p.? Unknown Skin COSM198796 PHF2 c.1468delA p.K492fs*6 Deletion - Frameshift Stomach COSM198796 PHF2 c.1468delA p.K492fs*6 Deletion - Frameshift Pancreas COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5019600 ARID1B c.3960-7A>G p.? Unknown Soft_tissue COSM3890961 ASXL3 c.368C>T p.P123L Substitution - Missense Skin COSM1692706 SETD2 c.3298C>T p.H1100Y Substitution - Missense Skin COSM4166078 HNF1A c.1124G>C p.G375A Substitution - Missense Kidney COSM4478804 KDM4C c.2203C>A p.H735N Substitution - Missense Skin COSM3394127 PHF1 c.1321C>T p.R441C Substitution - Missense Pancreas COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1047222 SFMBT1 c.1420C>T p.P474S Substitution - Missense Endometrium COSM5751405 TET2 c.2453_2454insT p.Y819fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1288330 TAF1L c.4964C>A p.P1655Q Substitution - Missense Autonomic_ganglia COSM3734204 HDAC4 c.658G>A p.G220R Substitution - Missense Pancreas COSM1349792 BTAF1 c.499G>T p.E167* Substitution - Nonsense Large_intestine COSM198796 PHF2 c.1468delA p.K492fs*6 Deletion - Frameshift Large_intestine COSM3758928 DNMT3L c.832A>G p.R278G Substitution - Missense Large_intestine COSM42016 TET2 c.4393C>T p.R1465* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5772548 PHRF1 c.1381C>T p.R461W Substitution - Missense Breast COSM4547901 TIF1 c.433G>T p.V145L Substitution - Missense Skin COSM3732351 PHF20L1 c.660C>T p.N220N Substitution - coding silent Stomach COSM219095 ASXL1 c.? p.E727* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM334384 MBD5 c.3427G>T p.V1143F Substitution - Missense Lung COSM1179669 KMT2C c.943G>A p.G315S Substitution - Missense Central_nervous_system COSM4423080 INOC1 c.200A>G p.D67G Substitution - Missense Central_nervous_system COSM1118567 RBBP7 c.621C>T p.N207N Substitution - coding silent Endometrium COSM4002747 PBRM1 c.3597A>T p.P1199P Substitution - coding silent Soft_tissue COSM2866625 TRRAP c.4870G>T p.A1624S Substitution - Missense Upper_aerodigestive_tract COSM1688382 TTF2 c.973C>T p.P325S Substitution - Missense Skin COSM4383883 TET2 c.3010delA p.K1005fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3668830 BAZ2B c.1334A>G p.Q445R Substitution - Missense Liver COSM1302133 CTCF c.1593C>A p.T531T Substitution - coding silent Urinary_tract COSM703191 MYST1 c.913G>T p.E305* Substitution - Nonsense Lung COSM3883710 TRRAP c.2632C>T p.R878C Substitution - Missense Stomach COSM3985247 RERE c.1753C>A p.R585S Substitution - Missense Kidney COSM3928573 PHF3 c.604C>T p.R202* Substitution - Nonsense Central_nervous_system COSM3407879 MSH6 c.1354A>G p.M452V Substitution - Missense Central_nervous_system COSM1746979 ARID2 c.2337A>T p.V779V Substitution - coding silent Urinary_tract COSM1704970 CHD4 c.2170G>T p.G724* Substitution - Nonsense Skin COSM958210 ALKBH1 c.520G>T p.G174C Substitution - Missense Endometrium COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM3364833 INO80B c.873C>G p.G291G Substitution - coding silent Kidney COSM1000960 TFPT c.54C>T p.F18F Substitution - coding silent Endometrium COSM4384316 KMT2C c.9718C>T p.Q3240* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM977558 SUZ12 c.974G>A p.C325Y Substitution - Missense Endometrium COSM1757283 ZMYM3 c.3602G>A p.G1201E Substitution - Missense Urinary_tract COSM3676523 CHD4 c.13C>T p.L5L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5753465 ZMYND11 c.1247A>G p.Q416R Substitution - Missense Large_intestine COSM4742139 ZBTB38 c.347T>C p.I116T Substitution - Missense Large_intestine COSM1328817 NIPBL c.8378G>A p.R2793Q Substitution - Missense Ovary COSM4119792 ATXN7 c.896C>A p.T299N Substitution - Missense Stomach COSM1034558 EP300 c.4048G>A p.A1350T Substitution - Missense Endometrium COSM312425 L3MBTL3 c.28delG p.G10fs*24 Deletion - Frameshift Lung COSM22644 MEN1 c.445+?C>T p.? Unknown Pituitary COSM5104135 BAHCC1 c.1671delG p.G559fs*75 Deletion - Frameshift Prostate COSM3583870 SMYD1 c.939G>A p.L313L Substitution - coding silent Skin COSM720946 ATAD2B_ENST00000238789 c.1850G>A p.C617Y Substitution - Missense Lung COSM5050025 PWWP2B c.130G>T p.G44C Substitution - Missense Stomach COSM3777506 EHMT2 c.1888G>A p.E630K Substitution - Missense Urinary_tract COSM1641860 SP110 c.1899C>G p.Y633* Substitution - Nonsense Stomach COSM920704 TAF3 c.1596A>C p.K532N Substitution - Missense Endometrium COSM1087661 KMT2C c.942C>T p.A314A Substitution - coding silent Endometrium COSM5385446 CDYL2 c.290G>A p.G97E Substitution - Missense Skin COSM5454265 SCMH1 c.494G>A p.C165Y Substitution - Missense Large_intestine COSM909894 KDM4A c.955G>A p.V319M Substitution - Missense Endometrium COSM4422537 PRDM2 c.1374G>T p.M458I Substitution - Missense Kidney COSM1667088 PRDM16 c.264G>T p.E88D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4495753 HCFC1 c.4311C>T p.V1437V Substitution - coding silent Skin COSM4437346 TET2 c.2141C>A p.S714* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3237278 KDM3B c.942C>T p.S314S Substitution - coding silent Upper_aerodigestive_tract COSM5006562 KDM5C c.? p.T978I Substitution - Missense Kidney COSM710133 SMARCA4 c.35C>T p.P12L Substitution - Missense Lung COSM5416735 L3MBTL4 c.219G>C p.K73N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5374671 EP400 c.4735C>T p.P1579S Substitution - Missense Skin COSM5699274 PHC3 c.969A>T p.S323S Substitution - coding silent Soft_tissue COSM1680200 L3MBTL4 c.534A>C p.L178F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4387446 BAP1 c.1986_1989delTGAT p.I662fs*29 Deletion - Frameshift Eye COSM5622421 CREBBP c.2302C>T p.R768* Substitution - Nonsense Oesophagus COSM4536636 TDRD1 c.2324G>T p.G775V Substitution - Missense Skin COSM3747999 CREBBP c.2826T>C p.P942P Substitution - coding silent Central_nervous_system COSM3738519 TET2 c.? p.K655fs*45 Frameshift Haematopoietic_and_lymphoid_tissue COSM3728049 EYA4 c.1259A>G p.H420R Substitution - Missense Liver COSM4849694 JMJD1C c.920C>T p.S307L Substitution - Missense Cervix COSM21474 HNF1A c.710A>G p.N237S Substitution - Missense Liver COSM1663338 PBRM1 c.1994T>C p.V665A Substitution - Missense Kidney COSM1579287 SETDB1 c.3820G>A p.G1274S Substitution - Missense Fallopian_tube COSM3611754 HDAC3 c.477-1G>A p.? Unknown Skin COSM5718374 TRRAP c.5964C>T p.A1988A Substitution - coding silent Skin COSM5725985 SMARCA4 c.4351C>T p.L1451F Substitution - Missense Skin COSM1032622 SMARCB1 c.464G>A p.R155H Substitution - Missense Stomach COSM465841 JMJD1C c.5643A>G p.E1881E Substitution - coding silent Kidney COSM3817962 CREBBP c.4864T>C p.Y1622H Substitution - Missense Breast COSM1388722 SETBP1 c.2959C>T p.R987W Substitution - Missense Skin COSM4888405 CHD1 c.2678A>G p.Q893R Substitution - Missense Upper_aerodigestive_tract COSM226502 MSH6 c.1370C>T p.A457V Substitution - Missense Skin COSM3932818 SMCHD1 c.466G>A p.V156I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1583109 DNMT3A c.2318T>G p.L773R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4754949 BRD1 c.25C>G p.R9G Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4477741 PHF2 c.217C>T p.P73S Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1307064 KDM3A c.70G>A p.D24N Substitution - Missense Urinary_tract COSM1109476 KIAA2026_ENST00000399933 c.1720C>T p.R574C Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM282115 KDM3B c.1789T>A p.S597T Substitution - Missense Large_intestine COSM1299681 BAZ2A c.3517G>T p.E1173* Substitution - Nonsense Urinary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1965179 KAT6B c.5242G>A p.V1748I Substitution - Missense Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4678897 DNMT3A c.1329T>C p.P443P Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4004130 PHIP c.2621C>T p.T874I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Urinary_tract COSM5955377 EYA4 c.927delT p.Y310fs*10 Deletion - Frameshift Upper_aerodigestive_tract COSM3808491 KMT2A c.9522A>C p.P3174P Substitution - coding silent Breast COSM3620516 L3MBTL3 c.804G>A p.M268I Substitution - Missense Stomach COSM1716788 TET2 c.? p.R1359P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5649583 KDM4C c.2697G>A p.V899V Substitution - coding silent Oesophagus COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4071696 AP001011.3_ENST00000320876 c.1746A>G p.V582V Substitution - coding silent Stomach COSM41741 TET2 c.5618T>C p.I1873T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4849569 HCFC2 c.733C>T p.R245* Substitution - Nonsense Liver COSM1331802 SMC1A c.3429C>A p.A1143A Substitution - coding silent Ovary COSM5750925 SUV420H1 c.2125C>A p.L709I Substitution - Missense Stomach COSM4590338 SIRT6 c.671A>C p.N224T Substitution - Missense Upper_aerodigestive_tract COSM4437234 PHF10 c.576C>T p.N192N Substitution - coding silent Oesophagus COSM3528419 SMARCA4 c.1881C>T p.I627I Substitution - coding silent Skin COSM221093 KMT2D c.511-4_515delGCAGCGCTG p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3523283 CHD3 c.3429C>T p.I1143I Substitution - coding silent Skin COSM5735627 SETDB1 c.2644G>T p.G882C Substitution - Missense Small_intestine COSM2919915 CREBBP c.5717delC p.P1906fs*9 Deletion - Frameshift Large_intestine COSM4795638 NCOA7 c.2352G>A p.E784E Substitution - coding silent Liver COSM110007 MECOM c.1841G>A p.G614E Substitution - Missense Skin COSM1309370 PBRM1 c.459G>A p.Q153Q Substitution - coding silent Urinary_tract COSM5649971 KDM6B c.753_755delACC p.P264delP Deletion - In frame Oesophagus COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM13891 MSH6 c.1868C>T p.P623L Substitution - Missense Skin COSM22850 KDM5A c.537+1G>A p.? Unknown Skin COSM124516 MTF2 c.180G>T p.L60F Substitution - Missense Upper_aerodigestive_tract COSM127890 EP400 c.4014C>T p.V1338V Substitution - coding silent Upper_aerodigestive_tract COSM131282 ACTR5 c.691C>T p.P231S Substitution - Missense Liver COSM216215 TAF1 c.5221A>G p.I1741V Substitution - Missense Central_nervous_system COSM254833 MYST1 c.419G>A p.R140H Substitution - Missense Urinary_tract COSM267486 SP110 c.459G>A p.A153A Substitution - coding silent Large_intestine COSM283146 NCOR1 c.4746G>A p.A1582A Substitution - coding silent Large_intestine COSM285641 TDRD5 c.1810A>G p.T604A Substitution - Missense Large_intestine COSM274117 BAZ1A c.128G>A p.R43Q Substitution - Missense Large_intestine COSM287413 KDM5A c.3710C>T p.P1237L Substitution - Missense Large_intestine COSM308850 ACTL6A c.113C>G p.P38R Substitution - Missense Lung COSM309432 BAG6 c.344delC p.P115fs*53 Deletion - Frameshift Large_intestine COSM332486 JHDM1D c.2217G>C p.L739L Substitution - coding silent Lung COSM317282 EP300 c.4453-3C>G p.? Unknown Soft_tissue COSM376914 KMT2C c.1004C>T p.P335L Substitution - Missense Skin COSM381791 TAF3 c.612G>T p.T204T Substitution - coding silent Liver COSM420998 ARID1B c.4162C>G p.Q1388E Substitution - Missense Urinary_tract COSM414475 RBBP4 c.1140C>T p.F380F Substitution - coding silent Urinary_tract COSM426746 RERE c.2475G>A p.P825P Substitution - coding silent Large_intestine COSM444652 PRMT2 c.1293C>T p.I431I Substitution - coding silent Breast COSM463056 TDRD10 c.155A>G p.Y52C Substitution - Missense Kidney COSM977054 PHF12 c.1351C>T p.Q451* Substitution - Nonsense Endometrium COSM981674 AKAP1 c.60C>T p.L20L Substitution - coding silent Endometrium COSM2270971 TET2 c.323A>T p.Q108L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM693700 KMT2D c.9868G>A p.D3290N Substitution - Missense Lung COSM693914 ARID2 c.155C>T p.T52I Substitution - Missense Lung COSM940018 KMT2D c.9999G>A p.Q3333Q Substitution - coding silent Prostate COSM748315 TRRAP c.10866C>G p.L3622L Substitution - coding silent Lung COSM702821 GTF3C1 c.3828C>T p.C1276C Substitution - coding silent Lung COSM908624 ZMYM6 c.1100C>A p.A367E Substitution - Missense Endometrium COSM908682 ZMYM4 c.3761C>T p.A1254V Substitution - Missense Endometrium COSM1037966 RUVBL1 c.744G>A p.A248A Substitution - coding silent Endometrium COSM1108225 TAF1L c.3729G>A p.R1243R Substitution - coding silent Endometrium COSM1128820 NCOR1 c.2873C>T p.A958V Substitution - Missense Prostate COSM1100904 CHD7 c.8175C>T p.I2725I Substitution - coding silent Large_intestine COSM1194952 HDAC2 c.1276G>T p.D426Y Substitution - Missense Lung COSM1184390 KMT2C c.8650C>T p.R2884* Substitution - Nonsense Large_intestine COSM1235023 PHF6 c.554_580>CCCGGGGA p.H185fs*27 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM1258616 MYST1 c.1049A>C p.E350A Substitution - Missense Pancreas COSM1265338 SETD2 c.789G>A p.M263I Substitution - Missense Oesophagus COSM1178773 SIRT4 c.18G>T p.A6A Substitution - coding silent Prostate COSM1218897 ORC1 c.269T>C p.V90A Substitution - Missense Large_intestine COSM1161163 CREBBP c.4243C>T p.Q1415* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1606139 ARID2 c.3433_3434insT p.S1146fs*14 Insertion - Frameshift Liver COSM1296334 ZMYM6 c.202C>T p.Q68* Substitution - Nonsense Urinary_tract COSM1420478 MECOM c.3120G>A p.A1040A Substitution - coding silent Large_intestine COSM1537710 KAT2B c.568C>T p.L190L Substitution - coding silent Skin COSM1615880 ZGPAT c.980C>T p.A327V Substitution - Missense Liver COSM1634393 PRDM13 c.273A>G p.G91G Substitution - coding silent Liver COSM1639851 ZMYM6 c.3835delT p.S1279fs*13 Deletion - Frameshift Stomach COSM1698021 EYA4 c.1236G>A p.M412I Substitution - Missense Skin COSM1710453 MYST2 c.1397C>T p.S466L Substitution - Missense Skin COSM1753424 MINA c.917G>A p.R306Q Substitution - Missense Urinary_tract COSM1753425 MINA c.341A>T p.N114I Substitution - Missense Urinary_tract COSM1732167 KDM6A c.113delC p.S40fs*2 Deletion - Frameshift Large_intestine COSM1741220 IDH1 c.315C>T p.G105G Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1756803 CHD4 c.3305G>A p.G1102E Substitution - Missense Urinary_tract COSM1724980 TET2 c.2196_2197insT p.S733fs*21 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2160688 SFMBT2 c.1256C>T p.P419L Substitution - Missense Pancreas COSM2797763 BPTF c.4245A>C p.K1415N Substitution - Missense Large_intestine COSM3296124 MBD5 c.1248C>T p.H416H Substitution - coding silent Upper_aerodigestive_tract COSM3360053 RNF17 c.1052C>G p.S351C Substitution - Missense Kidney COSM3375479 ERCC6 c.2636A>C p.K879T Substitution - Missense Pancreas COSM3440604 KAT6B c.879A>G p.R293R Substitution - coding silent Skin COSM3463533 BAZ2A c.3107C>T p.S1036F Substitution - Missense Skin COSM3615194 PRDM9 c.509-1G>A p.? Unknown Skin COSM3594807 DHX30 c.1062C>T p.I354I Substitution - coding silent Skin COSM3547380 NCOA3 c.2748C>T p.S916S Substitution - coding silent Skin COSM3550723 BRWD1 c.683C>T p.S228F Substitution - Missense Skin COSM3650707 EYA1 c.1564C>G p.P522A Substitution - Missense Skin COSM3688350 BAZ2A_ENST00000379441 c.5670C>T p.F1890F Substitution - coding silent Large_intestine COSM3701634 EYA2 c.1400T>C p.F467S Substitution - Missense Liver COSM3707810 EYA2 c.832A>T p.T278S Substitution - Missense Liver COSM3709522 HDAC4 c.2373+2T>C p.? Unknown Liver COSM3710753 KDM5A c.1308G>T p.E436D Substitution - Missense Upper_aerodigestive_tract COSM3738676 JMJD1C c.6508C>A p.Q2170K Substitution - Missense Liver COSM3750308 PRDM2 c.1008G>A p.E336E Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3763348 MYST3 c.2982G>A p.P994P Substitution - coding silent Soft_tissue COSM3779334 NCOA2 c.3011C>G p.S1004C Substitution - Missense Urinary_tract COSM3841279 ADNP c.2200G>A p.D734N Substitution - Missense Breast COSM3968994 SETD3 c.1582G>A p.E528K Substitution - Missense Central_nervous_system COSM4022068 SETDB1 c.1829G>A p.R610Q Substitution - Missense Stomach COSM4010183 RERE c.3893C>T p.T1298I Substitution - Missense Stomach COSM3984112 TRIM33 c.1887C>G p.P629P Substitution - coding silent Kidney COSM4107999 HCFC1 c.217G>T p.D73Y Substitution - Missense Stomach COSM4108019 MECP2 c.55C>G p.Q19E Substitution - Missense Stomach COSM4106534 SMARCA1 c.2743A>C p.I915L Substitution - Missense Stomach COSM4130520 BPTF c.5830T>A p.S1944T Substitution - Missense Thyroid COSM4162020 KMT2C c.2189C>A p.S730Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4164957 TCF20 c.5286G>A p.T1762T Substitution - coding silent Kidney COSM4169721 DNMT3A c.976C>T p.R326C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4385521 DNMT3A c.719_732del14 p.E240fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4383923 TET2 c.3863G>A p.G1288D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4383956 TET2 c.4790_4791delTC p.F1597fs*16 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4387433 BAP1 c.458_459delCT p.P153fs*7 Deletion - Frameshift Eye COSM4575446 KMT2D c.12778G>A p.D4260N Substitution - Missense Bone COSM4521307 SMARCA4 c.1105G>A p.E369K Substitution - Missense Skin COSM4512145 PRMT7 c.892C>T p.P298S Substitution - Missense Skin COSM4503927 CHD8 c.6516C>T p.L2172L Substitution - coding silent Skin COSM4524723 EYA4 c.128G>A p.G43E Substitution - Missense Skin COSM4769840 SUV420H1 c.1980C>T p.G660G Substitution - coding silent Biliary_tract COSM4666260 BRWD3 c.4872C>T p.D1624D Substitution - coding silent Large_intestine COSM4662503 APOBEC1 c.361_362insT p.W121fs*16 Insertion - Frameshift Large_intestine COSM4714181 PHRF1 c.3526C>T p.R1176W Substitution - Missense Biliary_tract COSM4643068 ARID1B c.5412C>T p.G1804G Substitution - coding silent Large_intestine COSM4644035 NCOR1 c.4124G>A p.R1375Q Substitution - Missense Large_intestine COSM4640326 PRDM15 c.1097G>T p.R366M Substitution - Missense Large_intestine COSM4644785 KMT2C c.10278G>A p.Q3426Q Substitution - coding silent Large_intestine COSM4751776 EYA3 c.298C>G p.Q100E Substitution - Missense Stomach COSM4754484 SMARCC1 c.3302C>A p.A1101D Substitution - Missense Stomach COSM4760691 ING3 c.364C>T p.R122* Substitution - Nonsense Stomach COSM4758001 BAHCC1 c.3619G>T p.A1207S Substitution - Missense Stomach COSM4801888 EP400 c.9135G>T p.T3045T Substitution - coding silent Liver COSM4799026 ZMYM2 c.795T>C p.N265N Substitution - coding silent Liver COSM4959403 JMJD1C c.4105G>A p.A1369T Substitution - Missense Liver COSM4990893 CREBBP c.598C>T p.Q200* Substitution - Nonsense Skin COSM4992836 TIF1 c.1803G>A p.L601L Substitution - coding silent Skin COSM4987566 BAHCC1 c.5263C>T p.R1755C Substitution - Missense Soft_tissue COSM5025104 MEN1 c.655-5delC p.? Unknown Large_intestine COSM5053411 PRDM16 c.3306C>T p.D1102D Substitution - coding silent Stomach COSM5048054 ARID2 c.2644G>T p.G882C Substitution - Missense Oesophagus COSM5366752 KDM6A c.1646_1653delGAGTGCCT p.R549fs*29 Deletion - Frameshift Large_intestine COSM5511103 PRMT1 c.486G>A p.A162A Substitution - coding silent Biliary_tract COSM5510575 PHC1 c.2123C>T p.P708L Substitution - Missense Biliary_tract COSM5495209 MBD2 c.542+7C>T p.? Unknown Biliary_tract COSM5482746 MLL5 c.3194C>T p.S1065F Substitution - Missense Large_intestine COSM5427331 MYST3 c.1968G>A p.K656K Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5456691 MUM1 c.912G>A p.P304P Substitution - coding silent Large_intestine COSM5637809 ARID1A c.1519C>A p.Q507K Substitution - Missense Oesophagus COSM5650773 MBD5 c.1918G>T p.G640C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5721211 EYA1 c.1678G>A p.E560K Substitution - Missense Skin COSM5738869 EPC1 c.1772A>G p.H591R Substitution - Missense Small_intestine COSM5588629 PHF8 c.1602G>A p.K534K Substitution - coding silent Skin COSM5599399 DMAP1 c.379G>A p.A127T Substitution - Missense Skin COSM5589136 TDRD6 c.3150T>C p.Y1050Y Substitution - coding silent Skin COSM5551337 WHSC1 c.2159G>A p.C720Y Substitution - Missense Prostate COSM5793246 HCFC2 c.1283G>A p.S428N Substitution - Missense Breast COSM5880303 PHF6 c.479_480insA p.K161fs*11 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5802205 TRRAP c.1862_1885del24 p.T622_K629delTVRMKEEK Deletion - In frame Breast COSM5816925 TRIM24 c.368G>A p.G123E Substitution - Missense Liver COSM5811296 HDAC11 c.1000G>A p.A334T Substitution - Missense Liver COSM5945028 TET2 c.2381C>G p.S794* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5945047 TET2 c.3791C>T p.A1264V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5916618 RAI1 c.3877C>T p.P1293S Substitution - Missense Skin COSM5922669 CHD7 c.6937G>A p.D2313N Substitution - Missense Skin COSM5967291 KDM6A c.995_996insAA p.N332fs*28 Insertion - Frameshift Salivary_gland COSM5991516 SMARCB1 c.469G>A p.G157S Substitution - Missense Skin COSM5989773 TET2 c.4865T>A p.L1622* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM6006413 KMT2C c.10432C>G p.Q3478E Substitution - Missense Central_nervous_system COSM5992002 CREBBP c.6621_6629delACAACAGCA p.Q2214_Q2216delQQQ Deletion - In frame Prostate COSM5970468 HCFC2 c.822A>C p.S274S Substitution - coding silent Upper_aerodigestive_tract COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM51384 IDH1 c.? p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96468 CREBBP c.(5830_5832)insC p.?fs Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4972323 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Bone COSM41709 TET2 c.4317_4318insA p.R1440fs*38 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5967511 MSH6 c.? p.R174K Substitution - Missense Large_intestine COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1369652 BAZ1A c.2606C>T p.S869F Substitution - Missense Large_intestine COSM425435 LBR c.1510G>A p.A504T Substitution - Missense Breast COSM5659961 GTF3C1 c.974-3C>G p.? Unknown Soft_tissue COSM3988681 CDYL2 c.837C>A p.I279I Substitution - coding silent Large_intestine COSM4586874 PHF3 c.5464A>C p.N1822H Substitution - Missense Bone COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM24928 HNF1A c.1072_1073CC>NNNNNNNNNNN p.P358>XXXX Complex - insertion inframe Liver COSM5768012 DPF1 c.117C>G p.P39P Substitution - coding silent Breast COSM5770092 PHF14 c.49C>G p.L17V Substitution - Missense Breast COSM1372739 INOC1 c.1990C>A p.R664S Substitution - Missense Large_intestine COSM4042363 KMT2D c.8486G>A p.R2829H Substitution - Missense Stomach COSM3406601 ATRX c.4112G>C p.R1371T Substitution - Missense Central_nervous_system COSM1315345 HCFC1 c.103C>G p.P35A Substitution - Missense Urinary_tract COSM4694062 MYST3 c.432C>T p.H144H Substitution - coding silent Large_intestine COSM2739877 SMYD4 c.2103C>T p.I701I Substitution - coding silent Skin COSM3734881 ATAD2B_ENST00000238789 c.899T>C p.I300T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1478831 MYST1 c.1019C>T p.S340F Substitution - Missense Breast COSM4735450 TP53BP1 c.2993C>T p.A998V Substitution - Missense Large_intestine COSM1245444 ARID1A c.3952delA p.M1318fs*163 Deletion - Frameshift Oesophagus COSM307761 TET2 c.? p.L1151P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4643748 MBD6 c.2526C>T p.D842D Substitution - coding silent Large_intestine COSM1675049 TAF3 c.29T>C p.L10S Substitution - Missense Large_intestine COSM1078483 BRPF3 c.798T>C p.P266P Substitution - coding silent Endometrium COSM3955474 RNF17 c.1341G>A p.K447K Substitution - coding silent Lung COSM1166293 SMARCD3 c.800G>A p.R267H Substitution - Missense Large_intestine COSM1067096 PRDM9 c.2564C>A p.T855K Substitution - Missense Endometrium COSM222053 PRDM9 c.1119G>A p.W373* Substitution - Nonsense Skin COSM5382224 BAZ1A c.587C>T p.P196L Substitution - Missense Skin COSM3514700 SMYD4 c.1646C>T p.S549F Substitution - Missense Skin COSM4971343 ATRX c.4829C>G p.T1610R Substitution - Missense Central_nervous_system COSM1088658 STK31 c.2652G>A p.S884S Substitution - coding silent Endometrium COSM4693827 JHDM1D c.920delC p.T307fs*15 Deletion - Frameshift Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM1057 SMARCB1 c.1148delC p.P383fs*>3 Deletion - Frameshift Soft_tissue COSM3962504 SP110 c.1115G>A p.R372Q Substitution - Missense Lung COSM4383572 DNMT3A c.1367_1368delAG p.K456fs*16 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM249685 NCOR1 c.448G>A p.G150R Substitution - Missense Upper_aerodigestive_tract COSM1444905 TDRD6 c.4550delA p.M1520fs*1 Deletion - Frameshift Skin COSM5737158 BRD9 c.100C>T p.R34C Substitution - Missense Small_intestine COSM3877182 PHF14 c.165A>C p.E55D Substitution - Missense Stomach COSM3374569 KMT2C c.6551C>G p.S2184C Substitution - Missense Thyroid COSM6018897 PRDM10 c.2598A>G p.P866P Substitution - coding silent Skin COSM4126231 PRDM8 c.1904G>A p.R635H Substitution - Missense Stomach COSM3482141 RBBP5 c.1254C>T p.P418P Substitution - coding silent Skin COSM708179 SMCHD1 c.2242A>G p.I748V Substitution - Missense Lung COSM1169007 ATXN7 c.1630C>T p.R544C Substitution - Missense Pancreas COSM240275 JARID2 c.651delA p.K217fs*90 Deletion - Frameshift Prostate COSM740191 L3MBTL3 c.820G>T p.D274Y Substitution - Missense Lung COSM2006795 KMT2D c.12249G>A p.P4083P Substitution - coding silent Large_intestine COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM461642 KMT2C c.3556C>T p.Q1186* Substitution - Nonsense Cervix COSM4020858 TRIM33 c.1931G>A p.S644N Substitution - Missense Stomach COSM1165545 BRD4 c.584C>T p.T195M Substitution - Missense Large_intestine COSM41292 IDH1 c.? p.R132G Substitution - Missense Bone COSM5046328 HDAC9 c.2119A>G p.T707A Substitution - Missense Oesophagus COSM5968601 TRIM66 c.2657A>T p.K886M Substitution - Missense Genital_tract COSM42009 TET2 c.4680_4681insA p.S1561fs*17 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1075357 ARID1B c.5166C>T p.D1722D Substitution - coding silent Endometrium COSM1287834 SETD8 c.1044G>A p.P348P Substitution - coding silent Thyroid COSM85115 MYST3 c.76C>T p.R26C Substitution - Missense Pancreas COSM4664728 ATXN7 c.2333_2334insC p.T781fs*6 Insertion - Frameshift Large_intestine COSM2772199 TAF1L c.4315A>T p.I1439F Substitution - Missense Large_intestine COSM4590719 KAT2A c.1583C>T p.S528F Substitution - Missense Upper_aerodigestive_tract COSM5004039 PHF19 c.157G>T p.G53C Substitution - Missense Testis COSM5640340 ACTB c.139A>G p.M47V Substitution - Missense Oesophagus COSM3747725 BAZ1B c.1047G>C p.S349S Substitution - coding silent Liver COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5621872 SMC1A c.1781T>C p.V594A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM23067 MEN1 c.? p.A49D Substitution - Missense Parathyroid COSM1666833 CBX4 c.1514T>C p.V505A Substitution - Missense Soft_tissue COSM3663039 KMT2C c.8391G>A p.K2797K Substitution - coding silent Liver COSM3724466 ARID1A c.2659C>T p.P887S Substitution - Missense Large_intestine COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM42047 TET2 c.1954C>T p.Q652* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM373232 TDRD6 c.3817G>C p.E1273Q Substitution - Missense Lung COSM1440426 L3MBTL3 c.1429delA p.M479fs*1 Deletion - Frameshift Large_intestine COSM3723784 TAF1 c.5483A>G p.E1828G Substitution - Missense Upper_aerodigestive_tract COSM4104449 L3MBTL2 c.1916G>A p.R639Q Substitution - Missense Stomach COSM5435705 TCF20 c.5182G>A p.D1728N Substitution - Missense Oesophagus COSM3581879 MSH6 c.464A>G p.K155R Substitution - Missense Skin COSM4954034 BRD8 c.1990G>T p.V664L Substitution - Missense Liver COSM1473819 ARID1A c.6427C>T p.R2143C Substitution - Missense Pancreas COSM1611156 SMCHD1 c.851G>A p.R284H Substitution - Missense Liver COSM3097184 ATRX c.575T>C p.L192S Substitution - Missense Large_intestine COSM240700 MLL5 c.25G>C p.V9L Substitution - Missense Prostate COSM4423006 SFMBT2 c.1225delA p.T409fs*4 Deletion - Frameshift Central_nervous_system COSM234243 GABRG1 c.505C>T p.R169* Substitution - Nonsense Skin COSM4829320 ARID1A c.1369C>T p.Q457* Substitution - Nonsense Cervix COSM5348421 BTAF1 c.2550delA p.V851fs*4 Deletion - Frameshift Liver COSM4102317 PRMT2 c.60C>T p.C20C Substitution - coding silent Stomach COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Skin COSM5952813 SETD5_ENST00000402198 c.3021G>A p.G1007G Substitution - coding silent Oesophagus COSM4093266 DNMT3A c.1470T>C p.I490I Substitution - coding silent Stomach COSM5752636 NCOR1 c.2659G>T p.E887* Substitution - Nonsense Breast COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM932716 EED c.1321C>T p.R441* Substitution - Nonsense Endometrium COSM41736 TET2 c.1526C>G p.S509* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1583073 DNMT3A c.1628_1628delG p.G543fs*108 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3726624 EP400 c.4384C>T p.P1462S Substitution - Missense Lung COSM5404345 L3MBTL3 c.1573C>T p.P525S Substitution - Missense Skin COSM4457960 TRDMT1 c.1066C>T p.P356S Substitution - Missense Skin COSM428497 KMT2A c.3583C>T p.Q1195* Substitution - Nonsense Breast COSM6002138 BRD7 c.1370A>G p.Y457C Substitution - Missense Prostate COSM4081178 TFPT c.394C>T p.R132W Substitution - Missense Stomach COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM486635 PRDM14 c.13C>T p.R5W Substitution - Missense Kidney COSM1078488 BRPF3 c.1624A>C p.T542P Substitution - Missense Endometrium COSM1388362 AP001011.3_ENST00000320876 c.3826G>T p.D1276Y Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4520903 EYA2 c.1082G>A p.G361E Substitution - Missense Skin COSM4842819 GABRG1 c.811G>C p.G271R Substitution - Missense Cervix COSM4146858 EP400 c.9280G>A p.A3094T Substitution - Missense Thyroid COSM1101412 NCOA2 c.3263G>A p.R1088Q Substitution - Missense Endometrium COSM4540000 CHD6 c.276G>A p.V92V Substitution - coding silent Skin COSM5664203 SFMBT1 c.924G>A p.V308V Substitution - coding silent Soft_tissue COSM4612140 INO80B c.11_12insA p.E5fs*1 Insertion - Frameshift Large_intestine COSM4990558 ARID1A c.5478C>T p.D1826D Substitution - coding silent Skin COSM3545571 NCOA6 c.240C>T p.S80S Substitution - coding silent Skin COSM5717372 HDAC9 c.1899C>T p.G633G Substitution - coding silent Skin COSM5747459 MPHOSPH8 c.1429A>C p.T477P Substitution - Missense Pancreas COSM4385235 EP300 c.533T>A p.L178* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1018648 HDAC4 c.503G>A p.S168N Substitution - Missense Endometrium COSM4170134 TET2 c.3197delC p.T1066fs*16 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3836057 TRIM28 c.2016C>T p.L672L Substitution - coding silent Breast COSM1292117 PRDM9 c.727C>A p.P243T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4915973 ASXL1 c.4191T>C p.G1397G Substitution - coding silent Liver COSM1317975 CHD4 c.2924G>A p.R975H Substitution - Missense Endometrium COSM3555549 BRD1 c.386C>T p.P129L Substitution - Missense Skin COSM4383715 MECOM c.2087C>T p.A696V Substitution - Missense Oesophagus COSM988843 MBD1 c.65G>A p.R22H Substitution - Missense Endometrium COSM5139772 TET2 c.2084_2087delTGTC p.M695fs*4 Deletion - Frameshift Large_intestine COSM5944240 TET2 c.2247_2251delAATAA p.I750fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4448102 BAHCC1 c.3581C>T p.P1194L Substitution - Missense Skin COSM5506013 DIDO1 c.4387C>T p.P1463S Substitution - Missense Biliary_tract COSM1496665 BAZ1B c.3187G>T p.A1063S Substitution - Missense Kidney COSM149917 BRD8 c.2428-4A>G p.? Unknown Stomach COSM4713981 PHF20L1 c.437T>C p.I146T Substitution - Missense Large_intestine COSM4795596 PRDM16 c.3012G>A p.K1004K Substitution - coding silent Liver COSM4949786 ARID2 c.4031_4032ins68 p.I1344fs*5 Insertion - Frameshift Liver COSM311711 HCFC2 c.1833G>C p.V611V Substitution - coding silent Lung COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5879663 ASXL1 c.2084delA p.Q695fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM100082 KMT2C c.8390_8390delA p.K2797fs*26 Deletion - Frameshift Large_intestine COSM5983723 BAZ2B c.3352C>T p.L1118L Substitution - coding silent Upper_aerodigestive_tract COSM4419035 NSD1 c.1749G>A p.E583E Substitution - coding silent Soft_tissue COSM3777169 SHPRH c.559G>C p.E187Q Substitution - Missense Urinary_tract COSM147595 TDG c.510G>A p.E170E Substitution - coding silent Stomach COSM3824399 ACTR8 c.1842C>T p.R614R Substitution - coding silent Breast COSM955464 BAZ1A c.2467C>T p.L823F Substitution - Missense Skin COSM741017 HDGFL1 c.14G>T p.G5V Substitution - Missense Lung COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3022303 ARID1B c.2465C>T p.A822V Substitution - Missense Large_intestine COSM198796 PHF2 c.1468delA p.K492fs*6 Deletion - Frameshift Prostate COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM198796 PHF2 c.1468delA p.K492fs*6 Deletion - Frameshift Breast COSM5361915 KDM5A c.3092G>A p.R1031H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4323418 ZCWPW2 c.901G>T p.G301* Substitution - Nonsense Large_intestine COSM1369020 CHD8 c.2632T>A p.F878I Substitution - Missense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM150424 KMT2C c.5068A>C p.R1690R Substitution - coding silent Soft_tissue COSM4916637 SETD2 c.1558A>G p.S520G Substitution - Missense Liver COSM896946 ASH1L c.523T>C p.S175P Substitution - Missense Endometrium COSM120167 TET2 c.2362G>T p.E788* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4855466 EP300 c.2329G>A p.V777I Substitution - Missense Cervix COSM5630384 PRDM9 c.1711C>A p.Q571K Substitution - Missense Oesophagus COSM5347044 ARID1A c.4792C>T p.R1598C Substitution - Missense Endometrium COSM1179669 KMT2C c.943G>A p.G315S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1756431 FMR1 c.988G>C p.E330Q Substitution - Missense Urinary_tract COSM5631542 TET2 c.3183delA p.V1062fs*4 Deletion - Frameshift Oesophagus COSM5427312 SMYD2 c.423A>G p.L141L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5772992 BAZ2A c.4396C>T p.P1466S Substitution - Missense Breast COSM4172406 SHPRH c.2219C>T p.S740L Substitution - Missense Skin COSM1100788 CHD7 c.2329G>A p.A777T Substitution - Missense Endometrium COSM330329 MYST1 c.634T>G p.Y212D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3824744 BRPF1 c.74T>G p.V25G Substitution - Missense Breast COSM1399843 MBD5 c.1423C>T p.P475S Substitution - Missense Large_intestine COSM5981857 EP300 c.2736G>T p.Q912H Substitution - Missense Upper_aerodigestive_tract COSM4954196 PHF14 c.2801A>G p.N934S Substitution - Missense Liver COSM1169580 PBRM1 c.3859G>A p.E1287K Substitution - Missense Kidney COSM1067683 NIPBL c.4912T>C p.L1638L Substitution - coding silent Endometrium COSM4603808 EP300 c.4340_4342delTCT p.F1448delF Deletion - In frame Upper_aerodigestive_tract COSM1372737 INOC1 c.2189A>G p.N730S Substitution - Missense Large_intestine COSM41742 TET2 c.5152G>T p.V1718L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM224409 KMT2A c.10375C>T p.L3459F Substitution - Missense Skin COSM1586699 CHD4 c.4866G>T p.E1622D Substitution - Missense Endometrium COSM144214 ATRX c.3168_3168delG p.K1057fs*61 Deletion - Frameshift Central_nervous_system COSM3500902 BAHD1 c.2217C>T p.P739P Substitution - coding silent Skin COSM3808791 PRDM10 c.1393C>T p.P465S Substitution - Missense Breast COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5968050 EHMT2 c.1532C>A p.P511H Substitution - Missense Genital_tract COSM3879510 KMT2C c.13461C>T p.C4487C Substitution - coding silent Stomach COSM4383899 TET2 c.3315_3316delAG p.E1106fs*23 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3952731 BRDT c.1377G>T p.K459N Substitution - Missense Ovary COSM4129054 CREBBP c.2604T>A p.S868S Substitution - coding silent Thyroid COSM5708597 TBL1XR1 c.740G>A p.G247E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1246226 BRDT c.2753A>C p.Q918P Substitution - Missense Oesophagus COSM5373357 KDM2A c.1371G>A p.E457E Substitution - coding silent Skin COSM1658924 ACTB c.277G>A p.E93K Substitution - Missense Skin COSM4383457 JMJD1C c.2347A>C p.N783H Substitution - Missense Large_intestine COSM1026870 CHD6 c.3664C>A p.L1222I Substitution - Missense Endometrium COSM3755301 SMYD4 c.21A>G p.E7E Substitution - coding silent Large_intestine COSM3547329 EYA2 c.330C>T p.S110S Substitution - coding silent Skin COSM5959758 BTAF1 c.4879G>T p.G1627C Substitution - Missense Thyroid COSM3734756 KMT2D c.? p.M1144fs*15 Frameshift Urinary_tract COSM4621699 PRDM13 c.402G>A p.E134E Substitution - coding silent Large_intestine COSM5656359 CREBBP c.3874_3875insA p.I1293fs*7 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4493271 BAZ1A c.4122C>T p.F1374F Substitution - coding silent Skin COSM1682573 PHF16 c.1435C>A p.L479M Substitution - Missense Large_intestine COSM1103017 TDRD7 c.3224C>T p.S1075L Substitution - Missense Skin COSM5348617 ARID2 c.1083_1084insA p.C362fs*7 Insertion - Frameshift Liver COSM4911509 ACTR8 c.443T>G p.L148* Substitution - Nonsense Liver COSM4122411 SETD7 c.201C>A p.A67A Substitution - coding silent Stomach COSM4204459 SETD8 c.465A>G p.Q155Q Substitution - coding silent Breast COSM3414650 RNF134 c.715G>C p.E239Q Substitution - Missense Large_intestine COSM4591023 KMT2C c.871C>T p.L291F Substitution - Missense Upper_aerodigestive_tract COSM1383603 HDAC5 c.924G>A p.S308S Substitution - coding silent Large_intestine COSM480487 ACTR8 c.1027C>T p.L343L Substitution - coding silent Kidney COSM5880459 ADNP c.1796A>G p.E599G Substitution - Missense Soft_tissue COSM896916 ASH1L c.6410A>G p.E2137G Substitution - Missense Endometrium COSM3970090 HDAC5 c.850C>T p.R284C Substitution - Missense Central_nervous_system COSM3830720 CDYL c.1419A>C p.T473T Substitution - coding silent Breast COSM4622915 CHD8 c.6686C>T p.A2229V Substitution - Missense Large_intestine COSM211686 TET2 c.2048_2082del35 p.F683fs*17 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3656098 EHMT1 c.3501C>T p.F1167F Substitution - coding silent Skin COSM1018654 ATAD2B_ENST00000238789 c.2381T>G p.F794C Substitution - Missense Endometrium COSM3901332 NCOA2 c.4355T>G p.M1452R Substitution - Missense Stomach COSM1734976 ARID4A c.3591_3592insA p.Y1199fs*8 Insertion - Frameshift Pancreas COSM5554644 DIDO1 c.4396G>A p.G1466R Substitution - Missense Prostate COSM1309339 BAP1 c.1987G>C p.D663H Substitution - Missense Urinary_tract COSM5343232 BRD4 c.1293G>A p.K431K Substitution - coding silent Large_intestine COSM4803256 SRCAP c.3119C>G p.P1040R Substitution - Missense Liver COSM2911501 NCOA1 c.4164A>G p.Q1388Q Substitution - coding silent Upper_aerodigestive_tract COSM3719258 TET2 c.3866delG p.C1289fs*74 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4987391 KDM6B c.2254A>G p.T752A Substitution - Missense Soft_tissue COSM5698655 HCFC1 c.1596C>A p.T532T Substitution - coding silent Soft_tissue COSM1735694 KMT2D c.? p.? Substitution - Missense Lung COSM3384750 MPHOSPH8 c.2011C>T p.L671L Substitution - coding silent Pancreas COSM1632252 NCOA6 c.652G>T p.D218Y Substitution - Missense Liver COSM1161850 WHSC1 c.581G>T p.S194I Substitution - Missense Kidney COSM1735411 RSF1 c.2398delA p.R800fs*24 Deletion - Frameshift Stomach COSM1075243 JARID2 c.736G>A p.A246T Substitution - Missense Endometrium COSM1370234 ARID4A c.1962C>T p.D654D Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1125394 ATRX c.6811A>G p.R2271G Substitution - Missense Endometrium COSM2777604 KIAA2026_ENST00000399933 c.2069_2070insA p.K691fs*8 Insertion - Frameshift Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM4014438 ERCC6 c.4228G>A p.G1410R Substitution - Missense Stomach COSM278971 ARID2 c.940C>T p.R314C Substitution - Missense Large_intestine COSM5046261 TP53BP1 c.365G>A p.G122E Substitution - Missense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1716176 EZH2 c.? p.Y646C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3317995 PHF20L1 c.664C>T p.P222S Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3296316 EPC2 c.2223A>T p.P741P Substitution - coding silent Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM402250 PRMT2 c.1170G>T p.T390T Substitution - coding silent Lung COSM4824567 GTF3C1 c.4801G>A p.E1601K Substitution - Missense Cervix COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4767586 ARID1B c.189A>G p.Q63Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM934517 PRDM4 c.2296G>T p.E766* Substitution - Nonsense Endometrium COSM415639 PRDM4 c.1136T>C p.L379P Substitution - Missense Urinary_tract COSM6005252 KDM5C c.4176T>C p.P1392P Substitution - coding silent Prostate COSM3382280 CHD7 c.5339A>T p.E1780V Substitution - Missense Pancreas COSM3461565 KMT2D c.6804C>T p.F2268F Substitution - coding silent Skin COSM5739645 KMT2D c.1601C>T p.T534M Substitution - Missense Small_intestine COSM5591820 MECOM c.348C>T p.S116S Substitution - coding silent Skin COSM1191133 PRMT3 c.1035delT p.Y346fs*23 Deletion - Frameshift Lung COSM3709942 SFMBT2 c.1880G>A p.R627H Substitution - Missense Stomach COSM5364993 DOT1L c.242C>T p.A81V Substitution - Missense Large_intestine COSM396208 TDRD6 c.995T>A p.L332H Substitution - Missense Lung COSM4719996 RAD54L c.1145G>A p.R382Q Substitution - Missense Large_intestine COSM3712629 INO80C c.347G>C p.R116T Substitution - Missense Upper_aerodigestive_tract COSM5798939 PHF3 c.2395A>G p.T799A Substitution - Missense Breast COSM23015 MEN1 c.252_253insT p.I85fs*32 Insertion - Frameshift Parathyroid COSM249606 CARM1 c.978C>G p.L326L Substitution - coding silent Kidney COSM4768746 GATAD2B c.1363G>T p.A455S Substitution - Missense Biliary_tract COSM5611423 BAP1 c.659+1G>T p.? Unknown Pleura COSM1645457 CREBBP c.2731C>T p.Q911* Substitution - Nonsense Large_intestine COSM236276 MEAF6 c.168_170delTAT p.I58delI Deletion - In frame Autonomic_ganglia COSM1675363 KAT6B c.2833C>A p.L945I Substitution - Missense Large_intestine COSM133733 DNMT3A c.2182G>C p.G728R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM185025 ASXL1 c.396G>A p.S132S Substitution - coding silent Large_intestine COSM939980 KMT2D c.14686G>A p.A4896T Substitution - Missense Endometrium COSM3359717 KDM5A c.4016A>T p.D1339V Substitution - Missense Kidney COSM4104700 PHF21B c.781G>A p.A261T Substitution - Missense Stomach COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM76690 TCF20 c.5492C>G p.T1831S Substitution - Missense Ovary COSM71632 MGA c.5905A>G p.T1969A Substitution - Missense Ovary COSM95197 RNF2 c.320A>G p.D107G Substitution - Missense Breast COSM87952 SND1 c.6_7ins21 p.A2_S3insSSAQSGG Insertion - In frame Central_nervous_system COSM110707 ASXL1 c.1762C>T p.Q588* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM138746 TAF3 c.2335C>T p.P779S Substitution - Missense Skin COSM133731 DNMT3A c.2510C>G p.S837* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Upper_aerodigestive_tract COSM219343 SFMBT2 c.1922G>C p.S641T Substitution - Missense Breast COSM235291 RNF17 c.1884G>A p.P628P Substitution - coding silent Stomach COSM250042 ATRX c.4599_4600insT p.T1534fs*8 Insertion - Frameshift Central_nervous_system COSM240733 MTA2 c.1843G>C p.A615P Substitution - Missense Prostate COSM255004 KDM6A c.3668G>A p.G1223D Substitution - Missense Urinary_tract COSM266646 GTF3C1 c.1626_1627delAG p.R542fs*35 Deletion - Frameshift Large_intestine COSM260534 DNMT3L c.718C>A p.L240I Substitution - Missense Large_intestine COSM265394 ASH1L c.5380_5382delCAT p.H1794delH Deletion - In frame Large_intestine COSM325901 MYST3 c.3632T>G p.V1211G Substitution - Missense Lung COSM342524 PRDM13 c.160G>A p.G54R Substitution - Missense Lung COSM356127 PHF21B c.1205A>C p.K402T Substitution - Missense Lung COSM367022 SFMBT2 c.1501G>T p.V501L Substitution - Missense Lung COSM415511 PHRF1 c.3939G>A p.L1313L Substitution - coding silent Urinary_tract COSM414505 ARID1A c.4591G>T p.E1531* Substitution - Nonsense Large_intestine COSM423132 PBRM1 c.3687delT p.L1230fs*39 Deletion - Frameshift Kidney COSM426026 EYA3 c.607C>G p.L203V Substitution - Missense Breast COSM5232990 KMT2D c.8938G>T p.E2980* Substitution - Nonsense Lung COSM475042 PRMT1 c.940C>T p.R314W Substitution - Missense Prostate COSM479111 HDAC10 c.1460C>T p.A487V Substitution - Missense Kidney COSM988367 SETBP1 c.496G>A p.A166T Substitution - Missense Endometrium COSM485220 STK31 c.2577T>C p.N859N Substitution - coding silent Kidney COSM693696 KMT2D c.8804G>T p.G2935V Substitution - Missense Lung COSM679386 LBR c.1173C>T p.P391P Substitution - coding silent Lung COSM1012907 ASXL1 c.3050A>C p.D1017A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1030695 BRWD1 c.3631C>T p.R1211* Substitution - Nonsense Skin COSM1030695 BRWD1 c.3631C>T p.R1211* Substitution - Nonsense Endometrium COSM1030703 BRWD1 c.2660G>A p.R887Q Substitution - Missense Endometrium COSM939495 ARID2 c.739C>A p.R247S Substitution - Missense Endometrium COSM753638 TAF1L c.3644G>A p.R1215H Substitution - Missense Large_intestine COSM724360 ZMYND8 c.1474A>G p.S492G Substitution - Missense Lung COSM925907 PRMT3 c.1245_1246insC p.C417fs*4 Insertion - Frameshift Endometrium COSM1007237 MBD5 c.3498G>A p.L1166L Substitution - coding silent Endometrium COSM1043487 ZCWPW2 c.465C>T p.F155F Substitution - coding silent Skin COSM1040966 MECOM c.1851C>T p.V617V Substitution - coding silent Endometrium COSM1072906 NCOA7 c.101T>C p.V34A Substitution - Missense Endometrium COSM1078015 DAXX c.1994C>T p.T665I Substitution - Missense Endometrium COSM1125811 BRWD3 c.4634G>T p.R1545I Substitution - Missense Endometrium COSM1132410 SMARCA1 c.2829C>A p.Y943* Substitution - Nonsense Prostate COSM1087503 KMT2C c.14365C>T p.R4789* Substitution - Nonsense Endometrium COSM1101409 NCOA2 c.3699G>T p.Q1233H Substitution - Missense Endometrium COSM1166763 DNMT3A c.2706delC p.F902fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1184913 BRD8 c.656A>C p.E219A Substitution - Missense Large_intestine COSM1183849 ASXL3 c.1918C>T p.R640W Substitution - Missense Large_intestine COSM1323508 BAZ1A c.4320A>G p.Q1440Q Substitution - coding silent Stomach COSM1388301 SMCHD1 c.1000C>T p.R334* Substitution - Nonsense Large_intestine COSM1386949 CBX8 c.956delG p.G319fs*37 Deletion - Frameshift Large_intestine COSM1386961 CBX4 c.220C>T p.P74S Substitution - Missense Large_intestine COSM1411133 DNMT3B c.1881C>T p.D627D Substitution - coding silent Large_intestine COSM1411851 CHD6 c.549G>A p.K183K Substitution - coding silent Large_intestine COSM1462650 KIAA2026_ENST00000399933 c.2187delA p.A730fs*26 Deletion - Frameshift Large_intestine COSM1436885 PRDM9 c.1340G>A p.R447H Substitution - Missense Large_intestine COSM1436895 PRDM9 c.2664C>T p.Y888Y Substitution - coding silent Large_intestine COSM1363776 CHD4 c.417G>T p.E139D Substitution - Missense Soft_tissue COSM1363779 CHD4 c.218delA p.K73fs*129 Deletion - Frameshift Large_intestine COSM1361690 ARID2 c.1764_1765insAAT p.N589_G590insN Insertion - In frame Large_intestine COSM1565740 NCOA3 c.3765G>A p.Q1255Q Substitution - coding silent Skin COSM1472277 MORF4L2 c.321C>T p.P107P Substitution - coding silent Prostate COSM1623351 TRRAP c.2217T>C p.I739I Substitution - coding silent Liver COSM1639500 POGZ c.3192delG p.F1065fs*17 Deletion - Frameshift Stomach COSM1700047 MYST3 c.3865G>T p.E1289* Substitution - Nonsense Skin COSM1716627 ATRX c.1074delA p.K358fs*2 Deletion - Frameshift Large_intestine COSM1707029 ING1 c.475C>A p.R159S Substitution - Missense Skin COSM1716414 CTCF c.610_611insA p.T204fs*26 Insertion - Frameshift Endometrium COSM1714504 BRD1 c.2026G>A p.E676K Substitution - Missense Skin COSM1710355 HDAC5 c.1789G>A p.E597K Substitution - Missense Skin COSM1755973 SET c.300T>A p.D100E Substitution - Missense Urinary_tract COSM1738643 SP140_ENST00000392045 c.430C>T p.Q144* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM2151981 KDM1B c.1001C>T p.A334V Substitution - Missense Central_nervous_system COSM2155417 ARID1B c.1668G>A p.A556A Substitution - coding silent Central_nervous_system COSM2105485 KMT2A c.4778G>A p.R1593H Substitution - Missense Stomach COSM2890630 PRMT2 c.78G>A p.L26L Substitution - coding silent Large_intestine COSM2965405 KDM6A c.2502G>A p.E834E Substitution - coding silent Upper_aerodigestive_tract COSM3190632 HDAC5 c.1003A>T p.T335S Substitution - Missense Large_intestine COSM3368369 PHF21A c.1335C>T p.C445C Substitution - coding silent Thyroid COSM3399292 RNF17 c.1400G>A p.G467D Substitution - Missense Central_nervous_system COSM3492892 RERE c.4471C>T p.R1491C Substitution - Missense Breast COSM3415078 ERCC6 c.3277G>T p.D1093Y Substitution - Missense Large_intestine COSM3434294 TDRD1 c.1454C>T p.P485L Substitution - Missense Skin COSM3467906 RNF17 c.1447G>A p.G483R Substitution - Missense Skin COSM3637686 CBX3 c.49G>A p.G17R Substitution - Missense Skin COSM3589862 MECOM c.1832G>A p.G611E Substitution - Missense Skin COSM3580233 NCOA1 c.4213G>A p.G1405R Substitution - Missense Skin COSM3554895 EP300 c.6160C>T p.L2054F Substitution - Missense Skin COSM3548770 DIDO1 c.6020C>T p.S2007L Substitution - Missense Skin COSM3644832 ATAD2 c.1334C>T p.P445L Substitution - Missense Skin COSM3694437 HCFC1 c.4898G>A p.S1633N Substitution - Missense Large_intestine COSM3682802 CDY2B c.908G>A p.R303K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3700284 HDAC7 c.608G>T p.S203I Substitution - Missense Liver COSM3853982 NSD1 c.6464-2A>G p.? Unknown Stomach COSM3930293 TTF2 c.2897C>T p.S966L Substitution - Missense Urinary_tract COSM3945922 PRDM5 c.1071C>G p.F357L Substitution - Missense Lung COSM3974513 PBRM1 c.1666C>T p.P556S Substitution - Missense Central_nervous_system COSM4043670 BAZ2A c.4121C>T p.P1374L Substitution - Missense Stomach COSM4002269 FMR1 c.198+9T>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4082480 TRIM28 c.2228T>C p.I743T Substitution - Missense Stomach COSM4113818 HDAC11 c.920G>A p.R307H Substitution - Missense Stomach COSM4096126 KDM3A c.1699T>G p.F567V Substitution - Missense Stomach COSM4118009 SETD2 c.3258T>C p.F1086F Substitution - coding silent Stomach COSM4070398 CHD3 c.5949C>T p.D1983D Substitution - coding silent Stomach COSM4385536 KMT2C c.12610G>A p.V4204I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4385687 ASXL1 c.1627_1628insG p.E543fs*8 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4381931 KMT2C c.943G>T p.G315C Substitution - Missense Breast COSM4383154 CARM1 c.603T>A p.F201L Substitution - Missense Large_intestine COSM4585108 CLOCK c.2434A>G p.T812A Substitution - Missense Bone COSM4585723 NSD1 c.1149C>T p.I383I Substitution - coding silent Large_intestine COSM4448374 BAHCC1 c.3447C>T p.S1149S Substitution - coding silent Skin COSM4461562 TCF20 c.1211C>T p.P404L Substitution - Missense Skin COSM4410937 BAP1 c.553G>A p.G185R Substitution - Missense Kidney COSM4702514 KMT2C c.2186A>T p.N729I Substitution - Missense Large_intestine COSM4663250 ARID1B c.3654G>A p.V1218V Substitution - coding silent Large_intestine COSM4626461 KIAA2026_ENST00000399933 c.1408T>C p.Y470H Substitution - Missense Large_intestine COSM4612869 HDAC7 c.2749_2751delAAA p.K917delK Deletion - In frame Large_intestine COSM4629001 HCFC1 c.865G>T p.A289S Substitution - Missense Large_intestine COSM4645769 PRDM2 c.702G>T p.E234D Substitution - Missense Large_intestine COSM4644239 KDM4B c.2806C>A p.R936S Substitution - Missense Large_intestine COSM4776038 CTCF c.1535_1560del26 p.M512fs*10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4787596 PHF19 c.600C>A p.C200* Substitution - Nonsense Liver COSM4798619 RSF1 c.2712G>A p.E904E Substitution - coding silent Liver COSM4879032 ZMYM1 c.1614C>T p.D538D Substitution - coding silent Prostate COSM4809344 KMT2A c.843C>T p.L281L Substitution - coding silent Pancreas COSM5005821 TAF3 c.1309T>C p.S437P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5019418 ZMYM2 c.2040T>C p.Y680Y Substitution - coding silent Soft_tissue COSM5054850 SETD1A c.3797G>A p.R1266H Substitution - Missense Stomach COSM5220575 KMT2C c.11604delG p.K3870fs*19 Deletion - Frameshift Breast COSM5518493 ACTL6A c.234G>A p.P78P Substitution - coding silent Biliary_tract COSM5500308 BRWD3 c.3527C>A p.P1176H Substitution - Missense Biliary_tract COSM5499532 MSL3 c.1483C>T p.H495Y Substitution - Missense Biliary_tract COSM5481921 LMNB1 c.1003T>C p.S335P Substitution - Missense Large_intestine COSM5460724 TRRAP c.6428_6429insA p.V2144fs*28 Insertion - Frameshift Large_intestine COSM5650598 TDRD6 c.575G>A p.R192Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5732469 JHDM1D c.950G>A p.W317* Substitution - Nonsense Pancreas COSM5615287 SETD2 c.2726_2729delAGAG p.E909fs*19 Deletion - Frameshift Lung COSM5711281 SMARCA2 c.3918G>C p.R1306S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5563869 SMC1A c.1939C>G p.Q647E Substitution - Missense Prostate COSM5565994 ZBTB4 c.1261C>T p.R421W Substitution - Missense Prostate COSM5563298 SETD6 c.573G>C p.Q191H Substitution - Missense Prostate COSM5569630 CHD9 c.8089A>G p.T2697A Substitution - Missense Prostate COSM5565651 SRCAP c.1010G>A p.R337H Substitution - Missense Upper_aerodigestive_tract COSM5879036 TET2 c.4396C>T p.Q1466* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5819992 CREBBP c.1915G>T p.D639Y Substitution - Missense Liver COSM5886367 TET2 c.5149C>T p.H1717Y Substitution - Missense Skin COSM5967515 MSH6 c.1944T>C p.S648S Substitution - coding silent Endometrium COSM5961100 ATRX c.1679C>T p.S560F Substitution - Missense Breast COSM6002805 RAI1 c.2559C>G p.L853L Substitution - coding silent Prostate COSM6004419 ZMYND8 c.3122C>T p.T1041I Substitution - Missense Prostate COSM4381097 KMT2C c.? p.G292E Substitution - Missense Breast COSM4127678 SMARCB1 c.? p.R40* Substitution - Nonsense Bone COSM34201 MSH6 c.? p.? Unknown Endometrium COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM914363 ASXL1 c.? p.A1172fs*2 Frameshift Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM53052 TET2 c.? p.D1384H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43409 TET2 c.? p.?fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4169523 TET2 c.? p.E1320A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5548899 ARID2 c.5318C>T p.A1773V Substitution - Missense Prostate COSM1665678 PBRM1 c.842delA p.Y281fs*2 Deletion - Frameshift Kidney COSM5031163 ASXL1 c.? p.? Unknown Thymus COSM4457482 BRDT c.1035C>T p.F345F Substitution - coding silent Skin COSM4399746 BRWD3 c.1662G>A p.Q554Q Substitution - coding silent Skin COSM162502 KMT2C c.7442+1G>A p.? Unknown Breast COSM162083 L3MBTL4 c.1081C>G p.L361V Substitution - Missense Breast COSM1969472 BTAF1 c.2801C>T p.T934I Substitution - Missense Large_intestine COSM1107172 EHMT1 c.886A>G p.K296E Substitution - Missense Endometrium COSM218525 AKAP1 c.2483G>A p.S828N Substitution - Missense Pancreas COSM329085 TET2 c.4513G>A p.A1505T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1315846 ASXL1 c.4304G>C p.S1435T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM1698424 STK31 c.2005G>A p.E669K Substitution - Missense Skin COSM1081853 PHIP c.3753C>T p.F1251F Substitution - coding silent Upper_aerodigestive_tract COSM5777900 SETD1A c.4980C>T p.I1660I Substitution - coding silent Breast COSM983335 BPTF c.5437G>A p.E1813K Substitution - Missense Pancreas COSM3775075 SETD2 c.3309C>T p.F1103F Substitution - coding silent Urinary_tract COSM5383268 MGA c.5810C>T p.S1937F Substitution - Missense Skin COSM422485 ATRX c.7211G>C p.C2404S Substitution - Missense Urinary_tract COSM1568609 TIF1 c.2053C>T p.P685S Substitution - Missense Large_intestine COSM4851899 ASH1L c.3347G>C p.G1116A Substitution - Missense Cervix COSM3925537 NCOA2 c.4049C>T p.P1350L Substitution - Missense Skin COSM3733522 NCOR1 c.59A>C p.Y20S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5478460 MPHOSPH8 c.720G>A p.T240T Substitution - coding silent Large_intestine COSM4010223 RERE c.1228C>T p.Q410* Substitution - Nonsense Stomach COSM1666667 SMARCB1 c.986+1G>T p.? Unknown Central_nervous_system COSM3386730 SMEK1 c.282G>T p.W94C Substitution - Missense Pancreas COSM3373989 PRDM13 c.655C>A p.Q219K Substitution - Missense Thyroid COSM5752392 KMT2D c.11455_11456delCT p.L3819fs*17 Deletion - Frameshift Breast COSM1936765 BAZ2A_ENST00000379441 c.27T>C p.F9F Substitution - coding silent Large_intestine COSM1755725 MYST3 c.5121G>A p.M1707I Substitution - Missense Urinary_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM1692147 SP140_ENST00000392045 c.382G>A p.E128K Substitution - Missense Skin COSM941555 SMARCC2 c.2586T>C p.A862A Substitution - coding silent Endometrium COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4170125 TET2 c.2421delG p.E808fs*5 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4149658 PHC3 c.1845G>C p.L615F Substitution - Missense Ovary COSM1646000 SETDB1 c.2462A>G p.D821G Substitution - Missense Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Biliary_tract COSM416425 MPHOSPH8 c.1345G>C p.D449H Substitution - Missense Urinary_tract COSM3467885 RNF17 c.955G>A p.E319K Substitution - Missense Skin COSM3069667 SMARCC1 c.690A>G p.L230L Substitution - coding silent Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4053398 SETD3 c.61T>C p.S21P Substitution - Missense Stomach COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3722167 ING5 c.369C>T p.S123S Substitution - coding silent Upper_aerodigestive_tract COSM4695059 KDM6B c.4031T>C p.L1344P Substitution - Missense Large_intestine COSM3501432 TP53BP1 c.1645G>A p.E549K Substitution - Missense Skin COSM4159839 PRDM9 c.2042C>G p.T681S Substitution - Missense Upper_aerodigestive_tract COSM937512 ATF7IP c.2941+2T>A p.? Unknown Endometrium COSM4603590 KMT2C c.2448_2449insA p.I817fs*11 Insertion - Frameshift Upper_aerodigestive_tract COSM4725167 SETD4 c.685G>A p.A229T Substitution - Missense Large_intestine COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM1733224 TIF1 c.2756_2758delAAG p.E920delE Deletion - In frame Pancreas COSM4747172 DHX30 c.1244_1245delAG p.L417fs*31 Deletion - Frameshift Stomach COSM4595028 KMT2C c.2681G>A p.R894Q Substitution - Missense Soft_tissue COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5422232 NCOR1 c.676C>T p.P226S Substitution - Missense Prostate COSM4524523 BRDT c.1265G>A p.R422H Substitution - Missense Skin COSM4956575 L3MBTL2 c.2085C>G p.S695S Substitution - coding silent Liver COSM1184245 ATXN7 c.2333G>C p.G778A Substitution - Missense Large_intestine COSM1483713 NCOA3 c.3741_3749delGCAGCAGCA p.Q1274_Q1276delQQQ Deletion - In frame Upper_aerodigestive_tract COSM88744 CREBBP c.4507T>C p.Y1503H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5047618 KMT2C c.11539A>T p.K3847* Substitution - Nonsense Oesophagus COSM908424 PHC2 c.2078C>T p.A693V Substitution - Missense Large_intestine COSM1035225 BRD1 c.2540G>A p.R847Q Substitution - Missense Large_intestine COSM4170753 CREBBP c.4501_4503delGAG p.E1501delE Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM4590719 KAT2A c.1583C>T p.S528F Substitution - Missense Upper_aerodigestive_tract COSM4957474 PRDM8 c.168T>A p.A56A Substitution - coding silent Liver COSM3721471 DHX30 c.2358C>T p.C786C Substitution - coding silent Upper_aerodigestive_tract COSM721727 MSH6 c.2065T>G p.F689V Substitution - Missense Lung COSM1483713 NCOA3 c.3741_3749delGCAGCAGCA p.Q1274_Q1276delQQQ Deletion - In frame Upper_aerodigestive_tract COSM5424989 SETD1B c.790C>T p.P264S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1496873 CHD7 c.6873C>A p.D2291E Substitution - Missense Kidney COSM3366480 BRPF3 c.1731A>T p.R577R Substitution - coding silent Kidney COSM3723525 SETDB1 c.1815A>G p.L605L Substitution - coding silent Upper_aerodigestive_tract COSM1736178 BRD1 c.1085T>C p.M362T Substitution - Missense Central_nervous_system COSM1100864 CHD7 c.6996G>A p.W2332* Substitution - Nonsense Endometrium COSM1008143 BAZ2B c.5882A>G p.H1961R Substitution - Missense Breast COSM4796743 BAZ2A_ENST00000379441 c.2281G>A p.G761R Substitution - Missense Liver COSM3791853 KDM2A c.3052C>G p.Q1018E Substitution - Missense Urinary_tract COSM4232590 LBR c.902C>T p.A301V Substitution - Missense Upper_aerodigestive_tract COSM4042352 KMT2D c.12386T>C p.L4129P Substitution - Missense Stomach COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM251357 ARID1A c.6774_6792del19 p.L2259fs*2 Deletion - Frameshift Liver COSM5632912 ASXL1 c.3833A>G p.N1278S Substitution - Missense Oesophagus COSM4611398 ZMYM2 c.3124delA p.K1044fs*33 Deletion - Frameshift Breast COSM5725490 ZBTB4 c.181A>C p.T61P Substitution - Missense Skin COSM4110260 PHF8 c.30C>T p.C10C Substitution - coding silent Stomach COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM2171608 DMAP1 c.1131C>T p.L377L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5985482 KDM6A c.2773T>A p.S925T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1122145 SUV39H1 c.159G>T p.K53N Substitution - Missense Endometrium COSM3492906 RERE c.2384T>C p.V795A Substitution - Missense Skin COSM4665054 BAHCC1 c.5889G>A p.P1963P Substitution - coding silent Large_intestine COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Central_nervous_system COSM1406761 HDAC4 c.155G>A p.R52H Substitution - Missense Central_nervous_system COSM5041802 ZMYM4 c.1497A>T p.Q499H Substitution - Missense Liver COSM5398635 PHC3 c.2674G>A p.V892I Substitution - Missense Skin COSM4915543 TRRAP c.5765A>T p.Q1922L Substitution - Missense Liver COSM4853305 WHSC1L1 c.434C>T p.P145L Substitution - Missense Cervix COSM1377461 SRCAP c.2309G>A p.R770H Substitution - Missense Stomach COSM4427531 SIRT1 c.686C>T p.S229L Substitution - Missense Oesophagus COSM3212706 GTF3C4 c.1455C>T p.C485C Substitution - coding silent Pancreas COSM1365716 ZMYM2 c.721A>G p.I241V Substitution - Missense Large_intestine COSM3905149 GTF3C4 c.2174G>T p.R725I Substitution - Missense Stomach COSM258796 PHF14 c.446C>G p.A149G Substitution - Missense Large_intestine COSM368568 MPHOSPH8 c.2340C>G p.I780M Substitution - Missense Lung COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5817286 SND1 c.2194A>T p.R732W Substitution - Missense Liver COSM3545556 NCOA6 c.4436T>A p.L1479* Substitution - Nonsense Skin COSM4015204 SIRT1 c.504C>A p.A168A Substitution - coding silent Stomach COSM1673706 KMT2C c.8957G>A p.G2986D Substitution - Missense Kidney COSM729197 MECOM c.1947T>C p.T649T Substitution - coding silent Lung COSM3416254 RSF1 c.262G>A p.E88K Substitution - Missense Large_intestine COSM5391881 NCOA6 c.1875C>T p.H625H Substitution - coding silent Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4001621 DNMT3A c.1266G>A p.L422L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM96391 ASXL1 c.2254_2255insG p.A752fs*22 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4166531 TET2 c.? p.A1272fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM4540185 HCFC1 c.2509G>A p.A837T Substitution - Missense Skin COSM291788 ATRX c.6409G>A p.A2137T Substitution - Missense Large_intestine COSM3790883 JMJD1C c.4426C>T p.P1476S Substitution - Missense Urinary_tract COSM2183884 TDRKH c.303C>T p.I101I Substitution - coding silent Skin COSM1409365 SMYD5 c.277C>A p.L93M Substitution - Missense Large_intestine COSM985402 CBX2 c.1057C>A p.L353I Substitution - Missense Endometrium COSM1363039 SMARCC2 c.3128delC p.P1043fs*18 Deletion - Frameshift Large_intestine COSM276729 PHF3 c.4229G>T p.R1410I Substitution - Missense Large_intestine COSM5632083 MLL5 c.1729G>A p.E577K Substitution - Missense Oesophagus COSM4993088 MYST3 c.2625C>T p.T875T Substitution - coding silent Skin COSM3253738 BAG6 c.844A>T p.S282C Substitution - Missense Central_nervous_system COSM28468 KMT2A c.1264delA p.I422fs*8 Deletion - Frameshift Kidney COSM35408 KAT6B c.3291A>G p.E1097E Substitution - coding silent Ovary COSM1184484 BAZ2A_ENST00000379441 c.364C>A p.P122T Substitution - Missense Large_intestine COSM5030636 ZMYM3 c.245_246insG p.L85fs*4 Insertion - Frameshift Bone COSM1440254 NCOA7 c.464delT p.F156fs*12 Deletion - Frameshift Large_intestine COSM5967522 MSH6 c.? p.L613S Substitution - Missense Large_intestine COSM4725215 SETDB2 c.2145A>G p.R715R Substitution - coding silent Large_intestine COSM5825019 TDRD5 c.915+1G>C p.? Unknown Pancreas COSM3816132 TP53BP1 c.4717G>C p.E1573Q Substitution - Missense Breast COSM4456293 ING1 c.575C>T p.A192V Substitution - Missense Skin COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3739685 HDAC7 c.1339C>T p.Q447* Substitution - Nonsense Liver COSM4927839 ING3 c.477T>C p.D159D Substitution - coding silent Liver COSM4060196 SRCAP c.3305C>T p.P1102L Substitution - Missense Stomach COSM5644933 ZBTB33 c.1527G>T p.L509F Substitution - Missense Oesophagus COSM1622596 KMT2C c.10726A>G p.I3576V Substitution - Missense Liver COSM4519538 ASH2L c.1015G>A p.D339N Substitution - Missense Skin COSM4003461 NSD1 c.6829T>C p.L2277L Substitution - coding silent Soft_tissue COSM5937557 KDM5A c.2978C>T p.S993F Substitution - Missense Skin COSM203716 PRDM10 c.2568C>T p.F856F Substitution - coding silent Skin COSM1134720 ASH1L c.3443C>T p.T1148I Substitution - Missense Kidney COSM3748478 ZMYM1 c.3265A>C p.T1089P Substitution - Missense Stomach COSM3454805 KDM4D c.704C>T p.S235F Substitution - Missense Skin COSM5982994 KIAA2026_ENST00000399933 c.2133A>C p.A711A Substitution - coding silent Upper_aerodigestive_tract COSM5804804 MUM1 c.1361A>T p.K454I Substitution - Missense Liver COSM100082 KMT2C c.8390_8390delA p.K2797fs*26 Deletion - Frameshift Large_intestine COSM3991179 HDAC4 c.2943T>A p.I981I Substitution - coding silent Kidney COSM3931546 HNF1A c.1375C>T p.L459L Substitution - coding silent Urinary_tract COSM2061655 KDM4D c.1443C>T p.C481C Substitution - coding silent Large_intestine COSM221609 TET2 c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM709403 CXXC1 c.468G>C p.Q156H Substitution - Missense Breast COSM4671946 CHD1 c.2589C>T p.S863S Substitution - coding silent Large_intestine COSM3636483 KMT2C c.8838C>T p.S2946S Substitution - coding silent Skin COSM231732 AKAP1 c.1214C>G p.P405R Substitution - Missense Skin COSM4928799 SRCAP c.8963C>T p.T2988I Substitution - Missense Liver COSM4829434 MYST3 c.2477C>G p.S826C Substitution - Missense Cervix COSM1183549 ARID1B c.5822C>T p.P1941L Substitution - Missense Large_intestine COSM3523308 CHD3 c.5087G>A p.G1696E Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM198796 PHF2 c.1468delA p.K492fs*6 Deletion - Frameshift Biliary_tract COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM110236 MYST3 c.1069C>T p.R357* Substitution - Nonsense Skin COSM1320998 ORC1 c.2531G>A p.R844Q Substitution - Missense Ovary COSM2952743 TET2 c.1796A>G p.Q599R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3690710 SETD1A c.3208C>T p.R1070W Substitution - Missense Large_intestine COSM536715 BRDT c.858G>T p.K286N Substitution - Missense Large_intestine COSM5680341 RAD54L c.796G>A p.V266M Substitution - Missense Soft_tissue COSM488574 TAF1 c.2078A>G p.Q693R Substitution - Missense Kidney COSM948225 TDRD3 c.130A>C p.N44H Substitution - Missense Endometrium COSM1493627 SETD1A c.1605G>A p.G535G Substitution - coding silent Kidney COSM427972 TAF3 c.2631G>A p.G877G Substitution - coding silent Breast COSM3821900 SMARCA4 c.3426C>A p.F1142L Substitution - Missense Breast COSM3704693 TDRD3 c.1467T>C p.S489S Substitution - coding silent Liver COSM4663987 ATF7IP c.2249C>T p.T750M Substitution - Missense Large_intestine COSM1205090 EHMT1 c.2761T>C p.Y921H Substitution - Missense Large_intestine COSM1343979 PHF13 c.777C>A p.S259S Substitution - coding silent Large_intestine COSM1457690 CHD7 c.1515G>A p.Q505Q Substitution - coding silent Large_intestine COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM5946031 KDM6A c.3234_3235insT p.K1080fs*1 Insertion - Frameshift Urinary_tract COSM4587651 TRRAP c.6521C>T p.P2174L Substitution - Missense Bone COSM4133193 BAZ2B c.1265T>C p.L422S Substitution - Missense Thyroid COSM695014 APOBEC1 c.511C>A p.P171T Substitution - Missense Lung COSM1315839 ASXL1 c.2355_2355delT p.R786fs*32 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM948229 TDRD3 c.937G>T p.D313Y Substitution - Missense Endometrium COSM5573647 DOT1L c.5198C>T p.S1733L Substitution - Missense Prostate COSM123549 HDAC3 c.902G>T p.R301L Substitution - Missense Upper_aerodigestive_tract COSM3521216 BPTF c.7127C>T p.P2376L Substitution - Missense Skin COSM4408295 PHF16 c.2092T>G p.L698V Substitution - Missense Pancreas COSM260693 EP300 c.7121C>A p.S2374Y Substitution - Missense Large_intestine COSM5496675 TCF20 c.1231A>G p.I411V Substitution - Missense Biliary_tract COSM255213 MEN1 c.1621A>G p.T541A Substitution - Missense Lung COSM4767375 ASXL1 c.2926C>T p.Q976* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4612251 MECP2 c.1086delC p.K363fs*46 Deletion - Frameshift Large_intestine COSM480150 SETD2 c.3649G>T p.E1217* Substitution - Nonsense Kidney COSM5764745 MYST3 c.4892G>A p.S1631N Substitution - Missense Large_intestine COSM1615190 KDM3A c.3490_3491insT p.E1165fs*1 Insertion - Frameshift Liver COSM2252223 UBR7 c.292C>T p.R98C Substitution - Missense Breast COSM1440255 NCOA7 c.1660delG p.G555fs*2 Deletion - Frameshift Large_intestine COSM4064147 NCOR1 c.5483C>T p.A1828V Substitution - Missense Stomach COSM5494227 TCF20 c.3641C>T p.P1214L Substitution - Missense Biliary_tract COSM4703483 MTA1 c.282C>T p.D94D Substitution - coding silent Large_intestine COSM4385371 KDM6A c.1310C>T p.A437V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4383895 TET2 c.3263C>A p.S1088* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4459652 SETDB1 c.1134C>T p.L378L Substitution - coding silent Skin COSM3931577 EP400 c.611G>A p.G204E Substitution - Missense Urinary_tract COSM375911 KIAA2026_ENST00000399933 c.455G>T p.G152V Substitution - Missense Lung COSM3378509 MBD1 c.1443G>A p.L481L Substitution - coding silent Pancreas COSM907691 ARID1A c.1776T>A p.Y592* Substitution - Nonsense Endometrium COSM88749 CREBBP c.4336C>T p.R1446C Substitution - Missense Large_intestine COSM5913897 KDM6B c.862G>A p.D288N Substitution - Missense Skin COSM1735694 KMT2D c.? p.? Substitution - Missense Central_nervous_system COSM5572408 MBD5 c.544T>C p.Y182H Substitution - Missense Prostate COSM1207950 GATAD2A c.520A>G p.T174A Substitution - Missense Large_intestine COSM4663886 ASXL1 c.1208A>G p.Q403R Substitution - Missense Large_intestine COSM3615193 PRDM9 c.467G>A p.G156E Substitution - Missense Skin COSM4933407 CREBBP c.2486T>C p.L829P Substitution - Missense Liver COSM3962592 ATAD2B_ENST00000238789 c.4297C>A p.R1433S Substitution - Missense Lung COSM3300212 BAZ2B c.6298G>A p.V2100I Substitution - Missense Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM989 SMARCB1 c.1130G>A p.R377H Substitution - Missense Meninges COSM88748 CREBBP c.4337G>A p.R1446H Substitution - Missense Upper_aerodigestive_tract COSM1325518 CARM1 c.1021G>A p.D341N Substitution - Missense Ovary COSM929717 MTA2 c.1463C>T p.A488V Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5505720 NCOA1 c.949+4A>G p.? Unknown Biliary_tract COSM4979052 NCOA6 c.5137G>A p.V1713I Substitution - Missense Oesophagus COSM415163 TDRD1 c.3091G>A p.E1031K Substitution - Missense Urinary_tract COSM254574 BTAF1 c.2255C>G p.P752R Substitution - Missense Urinary_tract COSM1228971 TET2 c.5506G>A p.V1836M Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3600572 SMARCA5 c.977A>G p.E326G Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3736952 BAP1 c.2023_2024insATA p.F674_I675insN Insertion - In frame Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2909190 ATAD2B_ENST00000238789 c.2715_2716insG p.F906fs*73 Insertion - Frameshift Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4476334 BAZ1B c.2060C>T p.S687F Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5711655 KDM6A c.2512_2515delACAA p.N839fs*27 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3662945 TIF1 c.2479C>G p.P827A Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4405052 SMEK1 c.1515T>G p.F505L Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6001018 MPHOSPH8 c.74C>T p.A25V Substitution - Missense Prostate COSM3879569 KMT2C c.6525T>C p.S2175S Substitution - coding silent Stomach COSM481938 PHF15 c.276T>C p.P92P Substitution - coding silent Kidney COSM3390649 KDM6A c.3646G>A p.D1216N Substitution - Missense Pancreas COSM3253905 MLL5 c.280A>G p.T94A Substitution - Missense Large_intestine COSM2758212 NCOA6 c.1464C>T p.N488N Substitution - coding silent Upper_aerodigestive_tract COSM253321 ASXL1 c.? p.R634fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM51231 ARID1A c.6710_6711insT p.L2238fs*40 Insertion - Frameshift Ovary COSM1194435 NSD1 c.1954A>G p.I652V Substitution - Missense Lung COSM1287109 PHF20 c.2571G>T p.V857V Substitution - coding silent Autonomic_ganglia COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4732881 TDG c.844G>A p.A282T Substitution - Missense Large_intestine COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM41741 TET2 c.5618T>C p.I1873T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM6012637 STK31 c.2853C>T p.L951L Substitution - coding silent Skin COSM4934482 BAZ2A c.3153-2A>G p.? Unknown Liver COSM680127 EYA3 c.527C>G p.S176C Substitution - Missense Lung COSM133001 ARID1A c.5548_5548delG p.D1850fs*33 Deletion - Frameshift Stomach COSM2834868 CHD9 c.3111T>C p.F1037F Substitution - coding silent Large_intestine COSM480291 BAP1 c.224A>G p.D75G Substitution - Missense Kidney COSM3756290 SMARCA4 c.1413G>A p.K471K Substitution - coding silent Soft_tissue COSM3422395 SMARCA4 c.3598C>T p.R1200C Substitution - Missense Large_intestine COSM22646 MEN1 c.322C>T p.R108* Substitution - Nonsense Pancreas COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24900 HNF1A c.632A>C p.Q211P Substitution - Missense Liver COSM20649 TIF1 c.959T>C p.I320T Substitution - Missense Ovary COSM37030 EZH2 c.1936T>C p.Y646H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM84646 ATF2 c.314A>C p.K105T Substitution - Missense Pancreas COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM51236 ARID1A c.2122C>T p.Q708* Substitution - Nonsense Breast COSM96517 EP300 c.3262-2A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM100067 TET2 c.783_783delC p.C262fs*31 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM95649 PSIP1 c.160G>T p.G54* Substitution - Nonsense Breast COSM97046 ASXL1 c.3935C>T p.A1312V Substitution - Missense Ovary COSM121201 KMT2C c.4470G>A p.G1490G Substitution - coding silent Upper_aerodigestive_tract COSM144515 TET2 c.4615C>T p.Q1539* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM216214 TAF1 c.3203G>A p.R1068H Substitution - Missense Central_nervous_system COSM212975 TP53BP1 c.3593C>T p.T1198I Substitution - Missense Breast COSM254673 EP300 c.4561G>C p.E1521Q Substitution - Missense Urinary_tract COSM268754 BMI1 c.98A>T p.E33V Substitution - Missense Large_intestine COSM255183 PHF6 c.736_737insTT p.S246fs*34 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM281847 IDH1 c.1035G>A p.K345K Substitution - coding silent Large_intestine COSM299565 TRDMT1 c.323+9T>G p.? Unknown Large_intestine COSM326649 TDRD10 c.820G>A p.D274N Substitution - Missense Lung COSM431868 APOBEC1 c.212C>T p.T71M Substitution - Missense Stomach COSM473837 SETBP1 c.2557C>A p.L853M Substitution - Missense Kidney COSM478049 NCOA6 c.5247G>T p.T1749T Substitution - coding silent Kidney COSM690577 RSF1 c.1992A>G p.V664V Substitution - coding silent Lung COSM744655 SND1 c.1585G>T p.A529S Substitution - Missense Lung COSM754373 KDM4C c.1301C>T p.S434F Substitution - Missense Lung COSM697533 CHD8 c.2161C>T p.P721S Substitution - Missense Lung COSM737894 NIPBL c.6590G>T p.G2197V Substitution - Missense Pancreas COSM900900 RNF2 c.82C>T p.P28S Substitution - Missense Endometrium COSM908672 ZMYM4 c.1547C>T p.S516L Substitution - Missense Endometrium COSM996180 SIRT2 c.585C>T p.C195C Substitution - coding silent Large_intestine COSM1000723 EZH2 c.1876G>A p.V626M Substitution - Missense Oesophagus COSM1067733 NIPBL c.7736C>T p.A2579V Substitution - Missense Endometrium COSM969942 SRCAP c.7249G>A p.A2417T Substitution - Missense Endometrium COSM1130818 DNMT3A c.1320G>A p.W440* Substitution - Nonsense Prostate COSM1084052 PHF14 c.1569_1570delAG p.K527fs*51 Deletion - Frameshift Large_intestine COSM1251644 EZH1 c.1546A>G p.T516A Substitution - Missense Oesophagus COSM1203593 DIDO1 c.6512G>A p.R2171H Substitution - Missense Large_intestine COSM1202273 CREBBP c.6154C>T p.R2052W Substitution - Missense Large_intestine COSM1205381 EP400 c.7856C>T p.A2619V Substitution - Missense Prostate COSM1177793 KDM4B c.2138C>T p.P713L Substitution - Missense Endometrium COSM1271002 ZMYND8 c.3127C>T p.P1043S Substitution - Missense Oesophagus COSM1324488 SETD1A c.3460C>G p.P1154A Substitution - Missense Ovary COSM1395308 PRMT1 c.464A>G p.Y155C Substitution - Missense Large_intestine COSM1413014 DIDO1 c.5206C>T p.L1736F Substitution - Missense Large_intestine COSM1449796 HDAC9 c.33G>A p.K11K Substitution - coding silent Large_intestine COSM1448545 JHDM1D c.552T>C p.R184R Substitution - coding silent Large_intestine COSM1470017 KDM5D c.800delC p.P267fs*5 Deletion - Frameshift Large_intestine COSM1609458 SETD6 c.895T>G p.L299V Substitution - Missense Liver COSM1614494 SP140_ENST00000392045 c.816G>C p.E272D Substitution - Missense Liver COSM1621249 HDGFL1 c.739G>T p.D247Y Substitution - Missense Liver COSM1634943 PHIP c.1918A>G p.I640V Substitution - Missense Liver COSM1681965 BRWD1 c.1694G>A p.R565Q Substitution - Missense Large_intestine COSM1700045 MYST3 c.5162C>T p.P1721L Substitution - Missense Skin COSM1715177 ATRX c.7324C>A p.P2442T Substitution - Missense Skin COSM1716414 CTCF c.610_611insA p.T204fs*26 Insertion - Frameshift Endometrium COSM1712249 SIRT2 c.803_804CC>TT p.P268L Substitution - Missense Skin COSM1706182 HCFC2 c.1379C>T p.S460F Substitution - Missense Skin COSM1660380 ACTR6 c.181C>A p.Q61K Substitution - Missense Kidney COSM2038987 MTA2 c.877G>T p.D293Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2069255 RNF17 c.1411T>G p.F471V Substitution - Missense Large_intestine COSM2068787 HDAC7 c.1256T>G p.V419G Substitution - Missense Pancreas COSM2152322 BRDT c.2819C>A p.T940K Substitution - Missense Central_nervous_system COSM2157142 PHF12 c.1444A>G p.T482A Substitution - Missense Central_nervous_system COSM2270141 INOC1 c.4018G>T p.A1340S Substitution - Missense Oesophagus COSM2889480 DNMT3B c.225C>T p.D75D Substitution - coding silent Large_intestine COSM3253943 MLL5 c.2208T>A p.N736K Substitution - Missense Large_intestine COSM3353849 CDYL c.318C>T p.I106I Substitution - coding silent Large_intestine COSM3398771 KMT2D c.9797G>A p.R3266H Substitution - Missense Central_nervous_system COSM3440908 TAF3 c.1190G>A p.R397Q Substitution - Missense Skin COSM3637024 HDAC9 c.1267C>T p.P423S Substitution - Missense Skin COSM3554892 EP300 c.5482C>T p.L1828F Substitution - Missense Skin COSM3523217 KDM6B c.2769C>T p.T923T Substitution - coding silent Skin COSM3523581 BAHCC1 c.1426C>T p.P476S Substitution - Missense Skin COSM3656853 TAF1L c.2628G>A p.M876I Substitution - Missense Biliary_tract COSM3739301 RSF1 c.3021G>T p.L1007F Substitution - Missense Liver COSM3818097 FTO c.1180G>A p.D394N Substitution - Missense Breast COSM3794128 INOC1 c.3153G>A p.L1051L Substitution - coding silent Urinary_tract COSM3916182 SMARCC1 c.2990C>T p.P997L Substitution - Missense Skin COSM3901336 NCOA2 c.3743G>A p.R1248Q Substitution - Missense Stomach COSM3948416 GTF3C1 c.4686C>T p.D1562D Substitution - coding silent Ovary COSM3963973 BRWD1 c.2159A>T p.H720L Substitution - Missense Lung COSM3972661 DIDO1 c.5316G>A p.P1772P Substitution - coding silent Central_nervous_system COSM4008365 DMAP1 c.857G>A p.R286H Substitution - Missense Stomach COSM4007990 SCMH1 c.1484C>T p.A495V Substitution - Missense Stomach COSM4036885 RSF1 c.2143G>T p.E715* Substitution - Nonsense Stomach COSM4036888 RSF1 c.1475C>A p.S492Y Substitution - Missense Stomach COSM4048192 TDRD3 c.1444C>T p.Q482* Substitution - Nonsense Stomach COSM4072887 L3MBTL4 c.1445-2A>G p.? Unknown Stomach COSM4386724 SETDB1 c.600_601insT p.S201fs*1 Insertion - Frameshift Lung COSM4383556 DNMT3A c.2043delC p.M682fs*23 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4384620 KMT2A c.9674G>A p.R3225H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384630 KMT2A c.11792T>C p.M3931T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4600408 ASXL1 c.2560A>T p.T854S Substitution - Missense Upper_aerodigestive_tract COSM4596520 NCOA7 c.2723A>T p.D908V Substitution - Missense Upper_aerodigestive_tract COSM4562964 PRDM1 c.842G>A p.G281E Substitution - Missense Skin COSM4584400 SETD2 c.4905G>A p.Q1635Q Substitution - coding silent Bone COSM4480258 PRDM10 c.2389C>T p.P797S Substitution - Missense Skin COSM4768307 SETD6 c.870G>C p.Q290H Substitution - Missense Biliary_tract COSM4659110 ACTL6A c.572-1G>T p.? Unknown Large_intestine COSM4643557 ASH1L c.3459G>T p.K1153N Substitution - Missense Large_intestine COSM4611655 HDAC2 c.33delA p.V12fs*20 Deletion - Frameshift Large_intestine COSM4751601 ARID1A c.3385A>G p.K1129E Substitution - Missense Stomach COSM4801483 HNF1A c.13C>T p.L5L Substitution - coding silent Liver COSM4881022 KDM6A c.3878+3A>C p.? Unknown Prostate COSM4889876 EZH1 c.682A>G p.K228E Substitution - Missense Upper_aerodigestive_tract COSM4927453 NSD1 c.6719C>A p.S2240* Substitution - Nonsense Liver COSM4854707 EZH2 c.877G>C p.D293H Substitution - Missense Cervix COSM4855736 CHD7 c.2021C>T p.P674L Substitution - Missense Cervix COSM4952813 PRMT8 c.786C>A p.I262I Substitution - coding silent Liver COSM4958018 RERE c.1075G>C p.D359H Substitution - Missense Liver COSM4964393 KIAA1045 c.952C>T p.R318W Substitution - Missense Pancreas COSM4990882 CREBBP c.4278G>A p.T1426T Substitution - coding silent Skin COSM4998333 WHSC1L1 c.1043G>T p.S348I Substitution - Missense Pancreas COSM4996959 ASH2L c.775C>T p.Q259* Substitution - Nonsense Upper_aerodigestive_tract COSM4978965 GATAD2B c.129G>C p.L43L Substitution - coding silent Oesophagus COSM4988879 NSD1 c.3106G>C p.A1036P Substitution - Missense Soft_tissue COSM5020616 KMT2A c.4284A>C p.I1428I Substitution - coding silent Soft_tissue COSM5053855 CHD8 c.3396C>T p.A1132A Substitution - coding silent Stomach COSM5060622 PHF15 c.1656G>A p.L552L Substitution - coding silent Stomach COSM5060944 DUSP1 c.654C>A p.Y218* Substitution - Nonsense Stomach COSM5086925 BAHCC1 c.1526A>G p.Q509R Substitution - Missense Large_intestine COSM5153180 PHF19 c.1705C>T p.Q569* Substitution - Nonsense Large_intestine COSM5046638 KMT2D c.8182G>C p.D2728H Substitution - Missense Oesophagus COSM5399477 SETD2 c.1559G>A p.S520N Substitution - Missense Skin COSM5383253 RTF1 c.829G>A p.V277I Substitution - Missense Skin COSM5361110 PRDM11 c.502G>A p.E168K Substitution - Missense Large_intestine COSM5478561 ZMYM6 c.2478G>A p.K826K Substitution - coding silent Large_intestine COSM5438147 JMJD6 c.276G>C p.R92S Substitution - Missense Oesophagus COSM5576172 TRIM24 c.706G>C p.E236Q Substitution - Missense Stomach COSM5761834 TAF1L c.3237G>A p.E1079E Substitution - coding silent Pancreas COSM5754491 PHF13 c.593G>A p.R198Q Substitution - Missense Large_intestine COSM5730665 TRIM66 c.2794_2795delAC p.T932fs*16 Deletion - Frameshift Breast COSM5607055 SND1 c.2198G>A p.G733E Substitution - Missense Skin COSM5591237 HDAC8 c.268C>T p.H90Y Substitution - Missense Skin COSM5610639 SMARCA4 c.4480C>G p.L1494V Substitution - Missense Skin COSM5674258 AP001011.3_ENST00000320876 c.5843A>G p.H1948R Substitution - Missense Soft_tissue COSM5749648 KMT2C c.11215C>G p.Q3739E Substitution - Missense Genital_tract COSM5786129 TIF1 c.457A>T p.S153C Substitution - Missense Breast COSM5795623 ATAD2B_ENST00000238789 c.1189-9C>G p.? Unknown Breast COSM5825439 EP300 c.5386T>G p.C1796G Substitution - Missense Pancreas COSM5810830 MGA c.1312G>T p.A438S Substitution - Missense Liver COSM5820457 KMT2C c.13699C>T p.Q4567* Substitution - Nonsense Liver COSM5944517 TET2 c.4258_4259insTA p.K1422fs*27 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5945632 HNF1A c.917G>T p.G306V Substitution - Missense Central_nervous_system COSM5927455 BAZ1B c.1270C>T p.P424S Substitution - Missense Skin COSM5919760 TAF1L c.1582C>T p.L528F Substitution - Missense Skin COSM5906261 KDM4A c.2569C>T p.H857Y Substitution - Missense Skin COSM5910189 KDM4A c.1360C>T p.P454S Substitution - Missense Skin COSM5990324 EP400 c.3959A>C p.N1320T Substitution - Missense Liver COSM6005478 KMT2D c.5240C>G p.T1747S Substitution - Missense Breast COSM6000164 PRDM10 c.1255G>A p.E419K Substitution - Missense Prostate COSM6000164 PRDM10 c.1255G>A p.E419K Substitution - Missense Prostate COSM6012791 TRRAP c.4306G>A p.D1436N Substitution - Missense Skin COSM41901 TET2 c.? p.R1216* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1716804 TET2 c.? p.Q1852* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM166348 DNMT3A c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4972330 ASXL1 c.? p.T694fs*9 Frameshift Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41992 TET2 c.3138_3138delT p.T1047fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM53055 TET2 c.? p.S356fs*18 Frameshift Haematopoietic_and_lymphoid_tissue COSM41709 TET2 c.4317_4318insA p.R1440fs*38 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM52872 PBRM1 c.320_321delAT p.D107fs*3 Deletion - Frameshift Kidney COSM4590343 SETBP1 c.3806A>G p.D1269G Substitution - Missense Upper_aerodigestive_tract COSM3845074 PHF8 c.2934C>T p.F978F Substitution - coding silent Breast COSM5604956 SMEK2 c.1392T>C p.N464N Substitution - coding silent Skin COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM231562 DNMT3A c.1872_1872delA p.P625fs*26 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4609662 MEN1 c.304_311delGACCTGTC p.D102fs*12 Deletion - Frameshift Adrenal_gland COSM1731578 HDAC9 c.2727delG p.V910fs*2 Deletion - Frameshift Liver COSM4958753 PRMT7 c.322G>A p.E108K Substitution - Missense Liver COSM428499 KMT2A c.6150-1G>A p.? Unknown Breast COSM3405872 MSL3 c.1357G>A p.A453T Substitution - Missense Central_nervous_system COSM1636997 IDH2 c.515G>C p.R172T Substitution - Missense Bone COSM1632018 MSH6 c.3876A>G p.G1292G Substitution - coding silent Liver COSM41644 TET2 c.1648C>T p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1341912 PHC2 c.115C>T p.R39C Substitution - Missense Cervix COSM1609322 CREBBP c.1647_1654delAGCTCTTC p.A550fs*18 Deletion - Frameshift Liver COSM360165 EHMT2 c.1348G>A p.E450K Substitution - Missense Lung COSM88735 CREBBP c.3959A>G p.K1320R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM82030 BRWD3 c.1116C>T p.N372N Substitution - coding silent Ovary COSM41644 TET2 c.1648C>T p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3738711 SFMBT2 c.526-4A>G p.? Unknown Liver COSM166617 JMJD5 c.374T>G p.M125R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3473521 SETDB1 c.1408C>T p.Q470* Substitution - Nonsense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM5764658 SND1 c.443G>A p.R148Q Substitution - Missense Large_intestine COSM28756 IDH1 c.? p.G97D Substitution - Missense Central_nervous_system COSM13867 EP300 c.4355C>T p.P1452L Substitution - Missense Skin COSM4590120 KDM4B c.2128A>G p.K710E Substitution - Missense Upper_aerodigestive_tract COSM88771 CREBBP c.4707_4708insGCACT p.A1571fs*66 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4566009 CHD7 c.2880_2881GG>AA p.E961K Substitution - Missense Skin COSM1738033 ASXL1 c.? p.A627fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM1173088 KDM3B c.5065C>T p.H1689Y Substitution - Missense Oesophagus COSM2080308 ZMYM4 c.1840T>G p.L614V Substitution - Missense Stomach COSM3233466 FMR1 c.1226G>A p.S409N Substitution - Missense Bone COSM5913747 CHD9 c.4639G>A p.E1547K Substitution - Missense Skin COSM4823634 KMT2D c.3902C>T p.P1301L Substitution - Missense Cervix COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4731008 SUV420H2 c.999G>A p.R333R Substitution - coding silent Large_intestine COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1698025 EYA4 c.1393C>T p.L465F Substitution - Missense Skin COSM4767461 SMARCA4 c.3633G>A p.E1211E Substitution - coding silent Biliary_tract COSM5622952 BRD8 c.1157C>T p.P386L Substitution - Missense Oesophagus COSM41294 IDH1 c.? p.R132C Substitution - Missense Soft_tissue COSM4458910 LMNA c.1104C>T p.A368A Substitution - coding silent Skin COSM1401271 HAT1 c.569G>C p.S190T Substitution - Missense Large_intestine COSM5708570 TBL1XR1 c.1339A>C p.S447R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4762621 TDRKH c.1007T>C p.L336P Substitution - Missense Stomach COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM4167246 TET2 c.? p.R815I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM88810 TET2 c.? p.V1157fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4969201 CHD8 c.634C>T p.R212* Substitution - Nonsense Central_nervous_system COSM284929 SFMBT1 c.1669C>T p.R557W Substitution - Missense Large_intestine COSM5765023 SIRT3 c.477G>T p.S159S Substitution - coding silent Large_intestine COSM680972 ZMYM6 c.398C>T p.P133L Substitution - Missense Lung COSM150428 KMT2C c.2958A>G p.P986P Substitution - coding silent Soft_tissue COSM1034517 EP300 c.1436A>C p.Q479P Substitution - Missense Endometrium COSM3656868 TAF1L c.1215G>A p.R405R Substitution - coding silent Skin COSM905725 KDM1A c.2584C>T p.R862C Substitution - Missense Endometrium COSM3761473 NCOA7 c.2826T>G p.D942E Substitution - Missense Large_intestine COSM1361697 ARID2 c.3203_3205delGTG p.G1069delG Deletion - In frame Large_intestine COSM166089 KDM5A c.95delC p.P32fs*34 Deletion - Frameshift Breast COSM907723 ARID1A c.4003C>T p.R1335* Substitution - Nonsense Central_nervous_system COSM3700485 POGZ c.1000C>G p.P334A Substitution - Missense Liver COSM1237697 TDG c.287_288insA p.I98fs*6 Insertion - Frameshift Soft_tissue COSM5367676 PHF15 c.1814_1815insACC p.P611_Q612insP Insertion - In frame Large_intestine COSM3900857 CHD7 c.1096C>T p.P366S Substitution - Missense Stomach COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM109344 CREBBP c.1689C>G p.N563K Substitution - Missense Skin COSM216777 KMT2C c.5065G>T p.E1689* Substitution - Nonsense Pancreas COSM237341 EP400 c.8991C>T p.A2997A Substitution - coding silent Prostate COSM3588185 ZBTB38 c.1571C>T p.T524I Substitution - Missense Skin COSM934515 PRDM4 c.2379G>A p.A793A Substitution - coding silent Endometrium COSM1424466 BAP1 c.587G>A p.W196* Substitution - Nonsense Eye COSM5065010 AP001011.3_ENST00000320876 c.549A>G p.I183M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4930400 ATAD2B_ENST00000238789 c.2657G>T p.R886I Substitution - Missense Liver COSM1230391 TRIM66 c.2597G>A p.R866Q Substitution - Missense Large_intestine COSM270810 ASH1L c.3478C>T p.R1160W Substitution - Missense Large_intestine COSM3706248 BAZ1A c.553A>G p.I185V Substitution - Missense Liver COSM1265325 SETBP1 c.1108G>A p.E370K Substitution - Missense Stomach COSM3694384 FMR1 c.990+2T>C p.? Unknown Large_intestine COSM5639473 ASXL3 c.2277G>C p.R759S Substitution - Missense Oesophagus COSM5353593 ARID1A c.2803A>G p.N935D Substitution - Missense Large_intestine COSM126317 SMARCA4 c.3566G>A p.R1189Q Substitution - Missense Large_intestine COSM2740245 RAI1 c.4097G>A p.R1366H Substitution - Missense Oesophagus COSM5724107 KMT2A c.34C>T p.R12* Substitution - Nonsense Skin COSM2140920 CHD2 c.3261T>C p.S1087S Substitution - coding silent Large_intestine COSM748341 TRRAP c.4252A>C p.I1418L Substitution - Missense Lung COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3824312 BAP1 c.134G>A p.G45E Substitution - Missense Breast COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM212053 SMYD1 c.827G>A p.C276Y Substitution - Missense Breast COSM1487231 EYA4 c.570G>T p.L190F Substitution - Missense Breast COSM914342 ASXL1 c.? p.Y591* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3879962 HDAC9 c.125G>A p.R42H Substitution - Missense Stomach COSM30489 KMT2D c.1311G>T p.E437D Substitution - Missense Kidney COSM1317975 CHD4 c.2924G>A p.R975H Substitution - Missense Endometrium COSM226363 SETBP1 c.3313G>A p.G1105S Substitution - Missense Skin COSM4621429 CBX4 c.457C>G p.Q153E Substitution - Missense Large_intestine COSM5797116 ACTB c.366C>T p.I122I Substitution - coding silent Skin COSM3686844 SFMBT2 c.2307C>T p.P769P Substitution - coding silent Large_intestine COSM1246196 BPTF c.1264_1266delGAG p.E423delE Deletion - In frame Stomach COSM1184906 BRD8 c.183A>C p.Q61H Substitution - Missense Large_intestine COSM704398 PRMT7 c.22G>A p.A8T Substitution - Missense Lung COSM1023027 PCGF1 c.519C>A p.S173R Substitution - Missense Endometrium COSM3799253 KDM3A c.3670C>G p.Q1224E Substitution - Missense Urinary_tract COSM975860 NCOR1 c.6467C>T p.P2156L Substitution - Missense Endometrium COSM2853466 BAP1 c.1445C>T p.S482L Substitution - Missense Large_intestine COSM985495 CHD3 c.3781G>A p.A1261T Substitution - Missense Endometrium COSM1437258 NIPBL c.1507delA p.R505fs*35 Deletion - Frameshift Large_intestine COSM3840990 ACTR5 c.911G>A p.R304Q Substitution - Missense Breast COSM216343 INOC1 c.4123G>A p.E1375K Substitution - Missense Pancreas COSM39117 HDAC2 c.498G>C p.K166N Substitution - Missense Central_nervous_system COSM5017266 PBRM1 c.2216_2217insA p.N739fs*2 Insertion - Frameshift Kidney COSM375483 TDRD7 c.3033G>T p.M1011I Substitution - Missense Lung COSM226129 PRDM9 c.2358A>C p.R786S Substitution - Missense Breast COSM5997048 PHIP c.4284T>A p.A1428A Substitution - coding silent Prostate COSM5019295 ZMYM2 c.2997A>G p.P999P Substitution - coding silent Soft_tissue COSM3514784 RAI1 c.5269C>T p.P1757S Substitution - Missense Skin COSM5760593 TAF1 c.3112C>A p.R1038S Substitution - Missense Pancreas COSM3582340 SMEK2 c.2199G>A p.K733K Substitution - coding silent Skin COSM203430 SND1 c.1171C>T p.R391C Substitution - Missense Large_intestine COSM4130750 KDM6B c.2145C>T p.H715H Substitution - coding silent Thyroid COSM1488387 KMT2C c.14289_14290insGG p.K4764fs*3 Insertion - Frameshift Breast COSM1341894 PRDM16 c.3369C>T p.D1123D Substitution - coding silent Large_intestine COSM5023363 L3MBTL3 c.1957G>A p.E653K Substitution - Missense Bone COSM4042395 KMT2D c.3541A>G p.T1181A Substitution - Missense Stomach COSM254975 TDRD1 c.2866T>C p.Y956H Substitution - Missense Urinary_tract COSM240692 KMT2D c.1427_1428delCA p.A476fs*5 Deletion - Frameshift Prostate COSM1295153 PYGO2 c.138G>T p.R46S Substitution - Missense Thyroid COSM5468129 BRWD3 c.3905C>A p.P1302H Substitution - Missense Large_intestine COSM2150252 RBBP4 c.763T>G p.W255G Substitution - Missense Central_nervous_system COSM673543 SFMBT2 c.1721C>T p.A574V Substitution - Missense Endometrium COSM3626158 BRPF3 c.358C>T p.R120C Substitution - Missense Skin COSM4808341 PRDM16 c.566G>C p.S189T Substitution - Missense Pancreas COSM1752706 KDM3A c.3802G>A p.E1268K Substitution - Missense Urinary_tract COSM141536 KDM4B c.3170C>A p.A1057D Substitution - Missense Upper_aerodigestive_tract COSM1257726 MINA c.1018C>T p.P340S Substitution - Missense Oesophagus COSM4591901 NCOR1 c.618+6T>A p.? Unknown Upper_aerodigestive_tract COSM234202 ARID1A c.3391C>T p.Q1131* Substitution - Nonsense Skin COSM3660907 SMARCA5 c.2383A>G p.T795A Substitution - Missense Liver COSM3568271 BAZ2B c.1403C>T p.P468L Substitution - Missense Skin COSM5785351 BRPF1 c.2031G>A p.K677K Substitution - coding silent Breast COSM3987968 TP53BP1 c.657A>G p.E219E Substitution - coding silent Kidney COSM4666249 BRWD1 c.3127T>G p.Y1043D Substitution - Missense Large_intestine COSM4016607 BTAF1 c.4389T>C p.A1463A Substitution - coding silent Stomach COSM5559608 KDM6B c.1375C>A p.L459I Substitution - Missense Prostate COSM5723933 CHD7 c.3764C>T p.P1255L Substitution - Missense Skin COSM95871 ERCC6 c.378C>T p.L126L Substitution - coding silent Lung COSM85918 TET2 c.3823G>A p.G1275R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1192753 CBX5 c.317delA p.K106fs*31 Deletion - Frameshift Prostate COSM740188 L3MBTL3 c.1876C>A p.P626T Substitution - Missense Prostate COSM87730 TDRKH c.253C>G p.R85G Substitution - Missense Pancreas COSM5673262 HDAC9 c.2229C>A p.T743T Substitution - coding silent Soft_tissue COSM1660382 ACTR8 c.1559A>G p.D520G Substitution - Missense Kidney COSM4039394 SIRT4 c.361C>T p.P121S Substitution - Missense Stomach COSM162841 NCOA7 c.2134C>T p.P712S Substitution - Missense Breast COSM5427938 KDM5A c.2163A>C p.P721P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4049568 MTA1 c.2071C>T p.R691C Substitution - Missense Stomach COSM144496 IDH2 c.? p.R172S Substitution - Missense Central_nervous_system COSM4605602 PRDM9 c.553G>A p.E185K Substitution - Missense Upper_aerodigestive_tract COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5901150 MBD5 c.2519-8C>T p.? Unknown Skin COSM3940598 SFMBT1 c.1495A>C p.K499Q Substitution - Missense Oesophagus COSM1716180 EZH2 c.? p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4054363 BAHD1 c.508C>T p.R170W Substitution - Missense Stomach COSM5515367 HELLS c.1492G>T p.E498* Substitution - Nonsense Biliary_tract COSM5591278 HNF1A c.812G>A p.R271Q Substitution - Missense Skin COSM3364880 KDM5D c.4169G>T p.G1390V Substitution - Missense Kidney COSM2029959 CHD8 c.6141delC p.S2048fs*28 Deletion - Frameshift Large_intestine COSM5461076 BRD3 c.850C>T p.R284C Substitution - Missense Prostate COSM231560 DNMT3A c.2206C>T p.R736C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM923592 KMT2A c.7829G>A p.G2610D Substitution - Missense Endometrium COSM1643149 PHIP c.4055A>G p.D1352G Substitution - Missense Stomach COSM363532 BRWD3 c.5092G>A p.G1698R Substitution - Missense Skin COSM1617676 SETD2 c.3738_3739delGC p.Q1247fs*38 Deletion - Frameshift Liver COSM4665061 BAHD1 c.431G>A p.R144H Substitution - Missense Large_intestine COSM1186574 CLOCK c.566A>G p.N189S Substitution - Missense Lung COSM3998050 JMJD1C c.890C>A p.T297N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1675527 PCGF6 c.565C>T p.R189* Substitution - Nonsense Large_intestine COSM5989908 DNMT1 c.3115A>G p.I1039V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5360958 SUV420H1 c.973G>A p.E325K Substitution - Missense Large_intestine COSM1347021 SUV39H2 c.776C>T p.A259V Substitution - Missense Large_intestine COSM1672753 L3MBTL3 c.1243T>C p.W415R Substitution - Missense Large_intestine COSM4590050 PRDM10 c.1332A>C p.E444D Substitution - Missense Upper_aerodigestive_tract COSM1494676 BAZ2B c.3458T>A p.I1153K Substitution - Missense Kidney COSM5721981 BAZ2A c.803C>T p.T268I Substitution - Missense Skin COSM1086002 TIF1 c.2212A>G p.T738A Substitution - Missense Endometrium COSM1560993 PCGF6 c.83_84insGCCTCC p.P28_V29insPP Insertion - In frame Large_intestine COSM5731433 PHF12 c.2541G>A p.E847E Substitution - coding silent Central_nervous_system COSM5548621 TDRD7 c.38C>T p.A13V Substitution - Missense Prostate COSM6014101 TDRD1 c.496C>T p.R166W Substitution - Missense Skin COSM4391632 MGA c.8080T>G p.L2694V Substitution - Missense Breast COSM1453166 TRRAP c.4082C>T p.S1361L Substitution - Missense Large_intestine COSM13394 MSH6 c.3261_3262insC p.F1088fs*5 Insertion - Frameshift Central_nervous_system COSM3701773 HDAC10 c.1554A>G p.P518P Substitution - coding silent Liver COSM255048 ARID1A c.2993delC p.S999fs*40 Deletion - Frameshift Urinary_tract COSM327311 PHF6 c.882A>G p.I294M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM471553 GTF3C1 c.2886T>G p.I962M Substitution - Missense Kidney COSM5057312 CHD6 c.5102A>C p.E1701A Substitution - Missense Stomach COSM4653122 DPF1 c.539G>A p.R180Q Substitution - Missense Large_intestine COSM3394228 TDRD6 c.684G>A p.S228S Substitution - coding silent Stomach COSM3854999 NIPBL c.431A>G p.Q144R Substitution - Missense Stomach COSM5950783 SMYD3 c.684A>T p.Q228H Substitution - Missense Prostate COSM749488 ATAD2 c.2332C>T p.L778F Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM294586 MUM1 c.1418C>T p.T473M Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM95695 ATF2 c.32+1G>T p.? Unknown Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3296316 EPC2 c.2223A>T p.P741P Substitution - coding silent Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM164277 SETD2 c.688G>C p.D230H Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5563822 MYST3 c.1665G>A p.Q555Q Substitution - coding silent Prostate COSM5019501 SMARCA4 c.859+7T>A p.? Unknown Soft_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5059923 ATXN7 c.818C>T p.A273V Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1496163 BRD9 c.585G>A p.T195T Substitution - coding silent Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1292394 MLL5 c.4952C>G p.S1651C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM107635 ARID2 c.3127C>T p.Q1043* Substitution - Nonsense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM704872 SMYD4 c.722C>A p.P241H Substitution - Missense Lung COSM987891 ASXL3 c.124C>T p.R42W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM373316 TIF1 c.732A>T p.R244R Substitution - coding silent Lung COSM292731 CHD1 c.3960delA p.E1321fs*22 Deletion - Frameshift Large_intestine COSM4949509 INOC1 c.3498G>C p.R1166S Substitution - Missense Liver COSM1716788 TET2 c.? p.R1359P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4157418 MECOM c.744T>G p.G248G Substitution - coding silent Thyroid COSM2270974 TET2 c.3442T>C p.Y1148H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM939955 KMT2D c.15797T>C p.M5266T Substitution - Missense Endometrium COSM1610012 PHF12 c.1018C>T p.R340C Substitution - Missense Liver COSM4702416 KMT2D c.13113C>T p.G4371G Substitution - coding silent Large_intestine COSM1061323 KDM3B c.1573T>C p.L525L Substitution - coding silent Endometrium COSM1716633 ATRX c.1159delA p.T387fs*27 Deletion - Frameshift Central_nervous_system COSM3259641 EZH2 c.1636A>C p.N546H Substitution - Missense Large_intestine COSM3870947 KDM2B c.609C>T p.I203I Substitution - coding silent Skin COSM5028130 MYST1 c.1130G>A p.R377Q Substitution - Missense Breast COSM479736 TBL1XR1 c.680A>G p.D227G Substitution - Missense Kidney COSM5822109 ZGPAT c.1385C>T p.T462I Substitution - Missense Liver COSM3847945 GTF3C4 c.1784C>T p.A595V Substitution - Missense Breast COSM146125 ZMYM3 c.2542G>A p.V848M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4154980 SMC1A c.2059G>T p.E687* Substitution - Nonsense Kidney COSM5564302 EHMT2 c.3562C>G p.R1188G Substitution - Missense Prostate COSM5514507 TBL1XR1 c.807A>G p.I269M Substitution - Missense Biliary_tract COSM3807592 SFMBT2 c.2529G>C p.K843N Substitution - Missense Breast COSM28794 KDM6A c.384+1G>T p.? Unknown Central_nervous_system COSM4487286 PHF2 c.3168C>T p.S1056S Substitution - coding silent Skin COSM451292 RING1 c.1004A>G p.E335G Substitution - Missense Upper_aerodigestive_tract COSM5995730 PRDM5 c.1524C>A p.I508I Substitution - coding silent Prostate COSM754406 KIAA2026_ENST00000399933 c.4597C>G p.P1533A Substitution - Missense Lung COSM3765411 PRDM14 c.910G>A p.E304K Substitution - Missense Central_nervous_system COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM36205 ASXL1 c.3306G>T p.E1102D Substitution - Missense Breast COSM85911 IKZF1 c.161-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53000 EZH2 c.2054_2054delA p.K685fs*12 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM75580 NCOA6 c.3967C>T p.R1323W Substitution - Missense Ovary COSM110757 TET2 c.2025_2026insA p.L676fs*5 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM119962 SETDB1 c.2090T>C p.I697T Substitution - Missense Ovary COSM118575 KAT6B c.3153C>T p.S1051S Substitution - coding silent Ovary COSM144225 ATRX c.7327A>G p.N2443D Substitution - Missense Central_nervous_system COSM148010 CREBBP c.2784G>A p.P928P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM239519 DAXX c.1826_1827insT p.S610fs*48 Insertion - Frameshift Prostate COSM41850 TET2 c.1630C>T p.R544* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM266645 GTF3C1 c.3129C>T p.C1043C Substitution - coding silent Stomach COSM256061 BTAF1 c.4898C>A p.T1633N Substitution - Missense Large_intestine COSM289850 SMARCC2 c.595A>T p.K199* Substitution - Nonsense Large_intestine COSM306061 PHF6 c.821G>A p.R274Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM398306 ARID1B c.5089G>T p.A1697S Substitution - Missense Lung COSM419852 RUVBL1 c.241C>T p.L81L Substitution - coding silent Urinary_tract COSM446639 DHX30 c.3379C>T p.R1127W Substitution - Missense Breast COSM457762 PHF8 c.1003_1004delTT p.L335fs*4 Deletion - Frameshift Breast COSM456720 SMARCA1 c.1384C>G p.H462D Substitution - Missense Skin COSM451714 PHF3 c.5465A>G p.N1822S Substitution - Missense Liver COSM979594 EZH1 c.2160C>T p.G720G Substitution - coding silent Endometrium COSM988406 SETBP1 c.4212C>T p.I1404I Substitution - coding silent Large_intestine COSM480178 SETD2 c.1408A>T p.R470* Substitution - Nonsense Kidney COSM480320 PBRM1 c.3605C>A p.T1202K Substitution - Missense Kidney COSM689654 MEN1 c.323G>T p.R108L Substitution - Missense Lung COSM690312 SUV420H1 c.1918G>C p.D640H Substitution - Missense Lung COSM1021299 MSH6 c.3300G>A p.T1100T Substitution - coding silent Large_intestine COSM756014 FMR1 c.1000C>T p.P334S Substitution - Missense Lung COSM756948 KDM5C c.1156G>C p.E386Q Substitution - Missense Lung COSM750497 ASH2L c.748G>T p.D250Y Substitution - Missense Lung COSM699898 INOC1 c.1799G>T p.G600V Substitution - Missense Lung COSM945405 ING1 c.625G>T p.E209* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1125412 ATRX c.5486C>T p.P1829L Substitution - Missense Endometrium COSM1087584 KMT2C c.6437C>A p.S2146Y Substitution - Missense Endometrium COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1228053 SUZ12 c.1078C>T p.R360C Substitution - Missense Large_intestine COSM1242561 NCOA2 c.2867C>T p.P956L Substitution - Missense Oesophagus COSM1251230 EP300 c.4607A>G p.E1536G Substitution - Missense Stomach COSM1186667 SMARCA5 c.1502G>A p.R501Q Substitution - Missense Lung COSM1188971 MGA c.6175C>A p.Q2059K Substitution - Missense Lung COSM1285705 KDM5A c.5121C>A p.F1707L Substitution - Missense Autonomic_ganglia COSM1290511 SETD1A c.5069A>C p.D1690A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1321122 ZMYM6 c.731G>T p.S244I Substitution - Missense Ovary COSM1408193 CAMKMT c.460delG p.G155fs*3 Deletion - Frameshift Large_intestine COSM1449808 HDAC9 c.798A>G p.E266E Substitution - coding silent Large_intestine COSM1449843 HDAC9 c.2227A>G p.T743A Substitution - Missense Large_intestine COSM1344943 MTF2 c.1181delA p.G397fs*6 Deletion - Frameshift Stomach COSM1565740 NCOA3 c.3765G>A p.Q1255Q Substitution - coding silent Skin COSM1488482 STK31 c.1673C>G p.T558S Substitution - Missense Breast COSM1683282 EP300 c.5860_5861insTTG p.H1954>LD Complex - insertion inframe Central_nervous_system COSM1697721 PRDM1 c.15G>A p.M5I Substitution - Missense Skin COSM1753987 BRD8 c.1282G>T p.D428Y Substitution - Missense Urinary_tract COSM1979523 PRDM11 c.1122C>T p.D374D Substitution - coding silent Oesophagus COSM2150785 SETBP1 c.1630C>T p.R544* Substitution - Nonsense Central_nervous_system COSM2157079 TRIM33 c.1319G>A p.R440H Substitution - Missense Central_nervous_system COSM2856279 KDM1B c.1494G>A p.L498L Substitution - coding silent Large_intestine COSM2968665 PHF8 c.2730C>A p.D910E Substitution - Missense Large_intestine COSM3296117 MBD5 c.1120G>A p.V374I Substitution - Missense Upper_aerodigestive_tract COSM3296120 MBD5 c.1171A>G p.M391V Substitution - Missense Upper_aerodigestive_tract COSM3296124 MBD5 c.1248C>T p.H416H Substitution - coding silent Upper_aerodigestive_tract COSM3320186 POLE3 c.321G>A p.K107K Substitution - coding silent Breast COSM3364163 KDM5C c.357G>C p.V119V Substitution - coding silent Kidney COSM3358451 SETD2 c.5605_5612delACAAATAA p.T1869fs*54 Deletion - Frameshift Kidney COSM3379677 ZMYM3 c.3317G>C p.C1106S Substitution - Missense Pancreas COSM3472817 PRDM2 c.99C>T p.F33F Substitution - coding silent Skin COSM3472820 PRDM2 c.1213C>T p.R405W Substitution - Missense Skin COSM3619185 PRDM1 c.989G>A p.G330D Substitution - Missense Skin COSM3631911 PHF14 c.556C>T p.R186* Substitution - Nonsense Skin COSM3633865 TIF1 c.2288C>T p.S763F Substitution - Missense Skin COSM3580255 DNMT3A c.1600C>T p.Q534* Substitution - Nonsense Skin COSM3555045 TCF20 c.4927C>A p.L1643I Substitution - Missense Skin COSM3525858 SETBP1 c.1912G>A p.G638R Substitution - Missense Skin COSM3691899 KDM6B c.4697G>A p.R1566H Substitution - Missense Large_intestine COSM3672206 JMJD5 c.242C>A p.T81K Substitution - Missense Prostate COSM3714616 SETD5_ENST00000402198 c.1079T>C p.V360A Substitution - Missense Upper_aerodigestive_tract COSM3735044 TET2 c.3940_3940delG p.D1314fs*49 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3778755 ZCWPW1 c.1868G>C p.R623T Substitution - Missense Urinary_tract COSM3795724 CBX1 c.371G>C p.G124A Substitution - Missense Urinary_tract COSM3915316 MECOM c.1679G>A p.R560Q Substitution - Missense Skin COSM3879590 KMT2C c.2871+1G>A p.? Unknown Stomach COSM4036877 RSF1 c.3141C>T p.G1047G Substitution - coding silent Stomach COSM4046342 ZMYM2 c.709T>G p.F237V Substitution - Missense Stomach COSM3986353 DPF2 c.699G>A p.L233L Substitution - coding silent Kidney COSM4099068 ZMYND8 c.2415C>T p.V805V Substitution - coding silent Stomach COSM4096128 KDM3A c.2011A>G p.N671D Substitution - Missense Stomach COSM4069633 ZBTB4 c.666C>T p.A222A Substitution - coding silent Stomach COSM4138731 EYA1 c.992A>G p.E331G Substitution - Missense Kidney COSM4144867 KAT6B c.5849T>G p.V1950G Substitution - Missense Thyroid COSM4151784 CBX4 c.707C>T p.A236V Substitution - Missense Kidney COSM4154847 PHF6 c.720T>G p.Y240* Substitution - Nonsense Kidney COSM4165533 SFMBT2 c.2355G>A p.P785P Substitution - coding silent Kidney COSM4385266 EP300 c.6866C>T p.A2289V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4605817 NCOR1 c.7006A>C p.K2336Q Substitution - Missense Upper_aerodigestive_tract COSM4415478 ATAD2B_ENST00000238789 c.747A>G p.Q249Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4431337 KDM6B c.3447C>T p.A1149A Substitution - coding silent Oesophagus COSM4425258 DAXX c.1702G>C p.E568Q Substitution - Missense Oesophagus COSM4429403 GLYR1 c.1463-3C>G p.? Unknown Oesophagus COSM4581815 CHD6 c.7808C>G p.T2603S Substitution - Missense Bone COSM4504689 CHD9 c.6731C>T p.S2244F Substitution - Missense Skin COSM4427681 EP300 c.5599C>A p.Q1867K Substitution - Missense Oesophagus COSM4457690 HNF1A c.1055C>T p.S352F Substitution - Missense Liver COSM4457690 HNF1A c.1055C>T p.S352F Substitution - Missense Skin COSM4475297 JHDM1D c.1979C>T p.S660F Substitution - Missense Skin COSM4448122 BAHCC1 c.4407C>T p.P1469P Substitution - coding silent Skin COSM4766122 TET2 c.3927T>G p.F1309L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4777330 DNMT3A c.1223A>C p.E408A Substitution - Missense Breast COSM4611655 HDAC2 c.33delA p.V12fs*20 Deletion - Frameshift Large_intestine COSM4894192 BTAF1 c.671C>T p.S224F Substitution - Missense Skin COSM4881150 JMJD1C c.1521T>G p.A507A Substitution - coding silent Prostate COSM4841908 SND1 c.241C>G p.P81A Substitution - Missense Cervix COSM4834095 SETD8 c.211C>T p.Q71* Substitution - Nonsense Cervix COSM4842944 BAZ2A_ENST00000379441 c.427C>T p.R143W Substitution - Missense Cervix COSM4960516 CHD7 c.5469G>A p.M1823I Substitution - Missense Liver COSM4950376 ARID1A c.5669G>T p.G1890V Substitution - Missense Liver COSM4972749 EP300 c.1684C>T p.P562S Substitution - Missense Oesophagus COSM5022493 SP140 c.223G>T p.E75* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5020639 KDM6B c.923C>T p.S308L Substitution - Missense Soft_tissue COSM5051630 KMT2D c.14962G>A p.A4988T Substitution - Missense Stomach COSM5078832 ELP3 c.258+5G>A p.? Unknown Large_intestine COSM5191684 TRRAP c.5457G>A p.T1819T Substitution - coding silent Skin COSM5095174 TAF1L c.4967T>A p.M1656K Substitution - Missense Thymus COSM5176403 ZMYND8 c.3007G>A p.A1003T Substitution - Missense Prostate COSM5405116 BRPF3 c.2969C>T p.P990L Substitution - Missense Skin COSM5357081 PHF10 c.62-5delT p.? Unknown Prostate COSM5472591 MYST3 c.4767C>T p.Y1589Y Substitution - coding silent Large_intestine COSM5471296 BRWD1 c.6595T>A p.S2199T Substitution - Missense Large_intestine COSM5481512 DPF1 c.750G>A p.A250A Substitution - coding silent Large_intestine COSM5644415 STK31 c.1493T>A p.F498Y Substitution - Missense Oesophagus COSM5738191 JHDM1D c.1420G>A p.A474T Substitution - Missense Small_intestine COSM5578776 KAT6B c.886C>T p.H296Y Substitution - Missense Skin COSM5595599 ZMYND8 c.2162T>A p.V721D Substitution - Missense Skin COSM5713609 MBD5 c.1255C>A p.H419N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5680738 DNMT3L c.825C>G p.G275G Substitution - coding silent Soft_tissue COSM5676921 TRRAP c.2687G>T p.G896V Substitution - Missense Soft_tissue COSM5714871 YY1 c.1219C>T p.H407Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5555733 MUM1 c.1872G>A p.G624G Substitution - coding silent Prostate COSM5822607 KDM2B c.1245C>T p.R415R Substitution - coding silent Liver COSM5944929 DNMT3A c.2105A>T p.D702V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5991700 MSH6 c.2685delA p.N897fs*9 Deletion - Frameshift Prostate COSM5982506 KDM6A c.3649T>C p.L1217L Substitution - coding silent Upper_aerodigestive_tract COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM1169382 EZH2 c.? p.R690H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM132984 ASXL1 c.? p.E602* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5718248 CHD9 c.2050C>T p.P684S Substitution - Missense Skin COSM21481 HNF1A c.872_873insC p.G292fs*25 Insertion - Frameshift Liver COSM3789659 KDM1A c.754G>A p.E252K Substitution - Missense Urinary_tract COSM3372724 DNMT3A c.1204C>T p.Q402* Substitution - Nonsense Thyroid COSM1703071 TDRD1 c.1969G>A p.E657K Substitution - Missense Skin COSM937161 EP400 c.4132G>T p.D1378Y Substitution - Missense Endometrium COSM1469598 BRWD3 c.1336C>A p.L446I Substitution - Missense Large_intestine COSM1108 SMARCB1 c.? p.? Unknown Soft_tissue COSM3764177 ARID1A c.4847C>T p.A1616V Substitution - Missense Central_nervous_system COSM1093728 TRRAP c.11064G>A p.A3688A Substitution - coding silent Endometrium COSM4404035 PHF21B c.376C>T p.P126S Substitution - Missense Skin COSM3944144 RAD54L c.705A>T p.G235G Substitution - coding silent Ovary COSM1333460 PRDM2 c.4333G>A p.D1445N Substitution - Missense Large_intestine COSM5649554 BAZ1B c.3146A>G p.Q1049R Substitution - Missense Oesophagus COSM87131 TET2 c.3787T>C p.C1263R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM71773 MYST3 c.1367A>G p.N456S Substitution - Missense Ovary COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Soft_tissue COSM3841017 CHD6 c.6046G>A p.E2016K Substitution - Missense Breast COSM1323612 GTF3C1 c.3152-2A>T p.? Unknown Ovary COSM306875 KMT2D c.6539_6540AT>AAT p.Y2180fs Complex Central_nervous_system COSM5045425 PRDM9 c.5G>T p.S2I Substitution - Missense Oesophagus COSM1283245 ACTR8 c.1307C>A p.A436E Substitution - Missense Autonomic_ganglia COSM85983 ATRX c.576G>C p.L192F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM430521 HNF1A c.51C>G p.L17L Substitution - coding silent Liver COSM5056812 UHRF1 c.1255C>T p.R419C Substitution - Missense Stomach COSM5548841 NSD1 c.5180C>T p.A1727V Substitution - Missense Prostate COSM4586403 ARID1B c.2192T>C p.M731T Substitution - Missense Bone COSM5984877 MYST2 c.900C>T p.N300N Substitution - coding silent Upper_aerodigestive_tract COSM69351 FMR1 c.270+1G>T p.? Unknown Ovary COSM2874670 NCOA2 c.225A>G p.E75E Substitution - coding silent Large_intestine COSM1251232 EP400 c.8176_8181delCAACAA p.Q2747_Q2748delQQ Deletion - In frame Oesophagus COSM390258 KDM3B c.2318C>G p.S773* Substitution - Nonsense Lung COSM1468253 HDAC6 c.1374C>T p.S458S Substitution - coding silent Large_intestine COSM1060 SMARCB1 c.1144delG p.A382fs*4 Deletion - Frameshift Central_nervous_system COSM3946382 GABRG1 c.892G>C p.A298P Substitution - Missense Lung COSM4978937 PRDM14 c.813T>C p.S271S Substitution - coding silent Oesophagus COSM1161968 PHF21B c.474C>A p.S158R Substitution - Missense Kidney COSM147860 MTA1 c.1114G>A p.V372I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41292 IDH1 c.? p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3953483 GLYATL1 c.172-3C>T p.? Unknown Lung COSM1666618 ARID1A c.? p.Q321fs*42 Unknown Ovary COSM2192866 ORC1 c.2517C>T p.N839N Substitution - coding silent Large_intestine COSM5911660 HDAC4 c.629C>T p.S210F Substitution - Missense Skin COSM999378 PRMT1 c.913G>A p.E305K Substitution - Missense Endometrium COSM5520918 GTF3C1 c.1838G>T p.R613L Substitution - Missense Biliary_tract COSM732255 BRPF1 c.3571C>T p.R1191C Substitution - Missense Lung COSM1169590 PBRM1 c.3767_3771delTTTGT p.L1256fs*6 Deletion - Frameshift Kidney COSM381175 MLL5 c.3058G>A p.V1020M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1215184 KMT2A c.7855C>T p.R2619C Substitution - Missense Large_intestine COSM5967161 ASXL1 c.1784_1920del137 p.P595fs*17 Deletion - Frameshift Salivary_gland COSM895733 VPS72 c.389G>A p.R130Q Substitution - Missense Endometrium COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM5015363 JMJD5 c.811G>T p.G271W Substitution - Missense Kidney COSM3413553 SMARCA2 c.210G>C p.M70I Substitution - Missense Central_nervous_system COSM5364655 ASXL3 c.2255G>T p.G752V Substitution - Missense Large_intestine COSM988860 CXXC1 c.1547G>T p.G516V Substitution - Missense Endometrium COSM4591233 NCOR1 c.534G>C p.K178N Substitution - Missense Upper_aerodigestive_tract COSM907723 ARID1A c.4003C>T p.R1335* Substitution - Nonsense Oesophagus COSM4590719 KAT2A c.1583C>T p.S528F Substitution - Missense Upper_aerodigestive_tract COSM5806185 SETDB2 c.1835A>T p.D612V Substitution - Missense Liver COSM2235412 ARID1A c.1289A>G p.Y430C Substitution - Missense Stomach COSM916167 MGMT c.380C>T p.A127V Substitution - Missense Endometrium COSM5967524 MSH6 c.? p.V1160I Substitution - Missense Large_intestine COSM468038 EP400 c.8229G>A p.Q2743Q Substitution - coding silent Central_nervous_system COSM3408799 PBRM1 c.4231C>T p.R1411C Substitution - Missense Central_nervous_system COSM1709974 NCOR1 c.3646A>T p.S1216C Substitution - Missense Skin COSM3981396 PRDM10 c.721G>A p.V241I Substitution - Missense Ovary COSM4672098 CHD8 c.3792G>A p.E1264E Substitution - coding silent Large_intestine COSM1444901 TDRD6 c.3677T>C p.L1226P Substitution - Missense Large_intestine COSM1114033 ZBTB33 c.1595C>T p.P532L Substitution - Missense Endometrium COSM5702626 BAP1 c.123-2A>G p.? Unknown Eye COSM740195 L3MBTL3 c.361G>A p.E121K Substitution - Missense Lung COSM4128897 CCDC101 c.846A>G p.R282R Substitution - coding silent Thyroid COSM5821764 PRDM2 c.4561G>T p.E1521* Substitution - Nonsense Liver COSM485075 KMT2C c.12143C>A p.S4048* Substitution - Nonsense Kidney COSM4060953 GLYR1 c.1195T>C p.L399L Substitution - coding silent Stomach COSM929372 PHRF1 c.2730C>T p.A910A Substitution - coding silent Endometrium COSM4131185 SMARCA4 c.1524T>C p.H508H Substitution - coding silent Soft_tissue COSM2007489 KMT2D c.15G>A p.K5K Substitution - coding silent Large_intestine COSM1265383 SFMBT2 c.2559A>G p.Q853Q Substitution - coding silent Oesophagus COSM1262028 PHC2 c.2407A>G p.I803V Substitution - Missense Oesophagus COSM1021257 MSH6 c.533G>A p.R178H Substitution - Missense Endometrium COSM1610663 BPTF c.5429-10A>G p.? Unknown Liver COSM4984034 TRRAP c.7140G>A p.K2380K Substitution - coding silent Oesophagus COSM1067075 PRDM9 c.909G>T p.E303D Substitution - Missense Endometrium COSM1348871 SFMBT2 c.2193C>T p.T731T Substitution - coding silent Large_intestine COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Biliary_tract COSM3895375 ATF2 c.1313C>T p.S438L Substitution - Missense Skin COSM1605259 RSF1 c.2334T>G p.S778S Substitution - coding silent Liver COSM76156 RAD54L c.2119A>G p.N707D Substitution - Missense Ovary COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1723867 BRD7 c.1859C>T p.P620L Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2148892 SHPRH c.1024G>A p.E342K Substitution - Missense Central_nervous_system COSM1061357 KDM3B c.3886C>A p.L1296I Substitution - Missense Endometrium COSM1327059 MSH6 c.2386G>A p.E796K Substitution - Missense Ovary COSM5989727 TET2 c.4031C>A p.A1344E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM36166 ASXL1 c.1772_1773insA p.Y591fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4991536 EP300 c.6897C>T p.I2299I Substitution - coding silent Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4944548 DNMT3B c.433-2A>T p.? Unknown Liver COSM4572941 BRD8 c.698T>A p.L233H Substitution - Missense Skin COSM22612 MEN1 c.440_442delTCA p.I147del Deletion - In frame Pancreas COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1103 SMARCB1 c.?_?del? p.?del Deletion - In frame Soft_tissue COSM1645456 CREBBP c.2861C>A p.A954D Substitution - Missense Large_intestine COSM3758728 DIDO1 c.4932C>T p.P1644P Substitution - coding silent Large_intestine COSM1299460 KMT2D c.254T>C p.F85S Substitution - Missense Urinary_tract COSM1290994 PRMT1 c.621C>T p.A207A Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5388876 BRD4 c.68C>T p.T23I Substitution - Missense Skin COSM5442053 PHRF1 c.3515G>A p.R1172Q Substitution - Missense Oesophagus COSM1622596 KMT2C c.10726A>G p.I3576V Substitution - Missense Liver COSM21887 SMARCC2 c.2703C>G p.I901M Substitution - Missense Lung COSM327788 DHX30 c.2060G>A p.R687H Substitution - Missense Stomach COSM457080 HCFC1 c.2792C>A p.T931K Substitution - Missense Breast COSM5912962 TAF1L c.4108C>T p.P1370S Substitution - Missense Skin COSM1049152 BRPF1 c.3192C>T p.G1064G Substitution - coding silent Endometrium COSM163708 PRDM16 c.2953G>T p.D985Y Substitution - Missense Breast COSM3428201 SMARCA5 c.3021G>T p.L1007F Substitution - Missense Large_intestine COSM3567470 MBD5 c.4414-1G>A p.? Unknown Skin COSM165090 TP53BP1 c.5833G>C p.E1945Q Substitution - Missense Breast COSM5361230 PRDM4 c.1610-6delT p.? Unknown Large_intestine COSM144567 PHF6 c.820C>T p.R274* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM86979 IKZF1 c.41-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM349066 PYGO1 c.1047G>T p.E349D Substitution - Missense Lung COSM5053438 ZMYM4 c.4628A>G p.D1543G Substitution - Missense Stomach COSM1115431 PHF6 c.5C>G p.S2* Substitution - Nonsense Endometrium COSM4007072 PRDM12 c.648C>T p.P216P Substitution - coding silent Urinary_tract COSM1603171 PWWP2B c.1207G>T p.G403C Substitution - Missense Liver COSM4060719 CREBBP c.1170C>T p.N390N Substitution - coding silent Stomach COSM4438356 GTF3C1 c.5697C>A p.P1899P Substitution - coding silent Oesophagus COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4767352 TET2 c.2250_2253delAAAG p.K751fs*61 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM251158 TAF1L c.3782A>T p.K1261M Substitution - Missense Liver COSM2080261 ZMYM4 c.1033delA p.I347fs*51 Deletion - Frameshift Large_intestine COSM724356 ZMYND8 c.69C>T p.I23I Substitution - coding silent Lung COSM125971 RUVBL1 c.948C>A p.H316Q Substitution - Missense Upper_aerodigestive_tract COSM1685691 ARID2 c.4946_4947delTT p.F1650fs*6 Deletion - Frameshift Skin COSM3578913 SP140_ENST00000392045 c.2512G>A p.D838N Substitution - Missense Skin COSM5423405 CXXC1 c.1946A>G p.D649G Substitution - Missense Prostate COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM2931066 DIDO1 c.6119G>A p.R2040H Substitution - Missense Central_nervous_system COSM456905 FMR1 c.1525G>A p.E509K Substitution - Missense Breast COSM3416996 SMARCC2 c.2671C>A p.L891M Substitution - Missense Large_intestine COSM1632263 PHF20 c.1869G>T p.W623C Substitution - Missense Liver COSM4486730 PRDM2 c.3098C>T p.P1033L Substitution - Missense Skin COSM1618228 INTS12 c.1360A>G p.K454E Substitution - Missense Liver COSM3775249 PBRM1 c.546G>C p.L182F Substitution - Missense Urinary_tract COSM5609084 HNF1A c.1131C>T p.L377L Substitution - coding silent Skin COSM4456097 LBR c.696_697GT>CA p.M232_C233>IS Complex - compound substitution Skin COSM3985245 RERE c.4530C>A p.P1510P Substitution - coding silent Kidney COSM1670987 GABRG1 c.1087G>T p.G363* Substitution - Nonsense Large_intestine COSM1196016 SETD5_ENST00000402198 c.1594C>T p.R532W Substitution - Missense Lung COSM4853368 MLL5 c.4762C>G p.Q1588E Substitution - Missense Cervix COSM433838 MGA c.8016C>G p.L2672L Substitution - coding silent Breast COSM248485 ZMYM3 c.4064G>A p.R1355H Substitution - Missense Prostate COSM5556739 SETD5_ENST00000402198 c.2625C>A p.H875Q Substitution - Missense Prostate COSM992 SMARCB1 c.472C>T p.R158* Substitution - Nonsense Central_nervous_system COSM402664 KDM3B c.3194G>A p.R1065H Substitution - Missense Lung COSM4706980 NIPBL c.4263_4264insT p.V1424fs*6 Insertion - Frameshift Breast COSM4694970 KDM4B c.2826C>T p.A942A Substitution - coding silent Large_intestine COSM918659 ERCC6 c.2742G>A p.T914T Substitution - coding silent Endometrium COSM5923373 ZMYND8 c.1391C>T p.S464F Substitution - Missense Skin COSM3703901 HNF1A c.1774T>C p.S592P Substitution - Missense Liver COSM125571 PRDM9 c.2273G>A p.R758H Substitution - Missense Pancreas COSM723125 ASXL1 c.2035G>T p.G679* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3296123 MBD5 c.1224A>T p.P408P Substitution - coding silent Upper_aerodigestive_tract COSM41877 IDH2 c.418C>T p.R140W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4955608 HAT1 c.233A>G p.Y78C Substitution - Missense Liver COSM3900236 MYST3 c.5189G>T p.S1730I Substitution - Missense Stomach COSM255213 MEN1 c.1621A>G p.T541A Substitution - Missense Soft_tissue COSM4788722 MECOM c.210G>C p.E70D Substitution - Missense Liver COSM1184896 BRD4 c.2005C>T p.R669C Substitution - Missense Large_intestine COSM2909183 HDAC4 c.175C>T p.L59L Substitution - coding silent Large_intestine COSM1457715 CHD7 c.4079T>G p.F1360C Substitution - Missense Large_intestine COSM1617996 ATXN7 c.50C>T p.A17V Substitution - Missense Liver COSM3461531 KMT2D c.12457C>T p.P4153S Substitution - Missense Skin COSM3713309 CHD6 c.1028G>A p.R343H Substitution - Missense Upper_aerodigestive_tract COSM5456469 ORC1 c.1755+6C>T p.? Unknown Large_intestine COSM1738015 ASXL1 c.2536_2536delA p.S846fs*21 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1111293 PHF2 c.549C>T p.S183S Substitution - coding silent Endometrium COSM4694887 KDM2B c.2444G>A p.R815Q Substitution - Missense Large_intestine COSM4486653 ATRX c.3086C>T p.P1029L Substitution - Missense Skin COSM419075 SMYD1 c.341T>G p.V114G Substitution - Missense Upper_aerodigestive_tract COSM3765997 NCOR1 c.4153-5T>A p.? Unknown Skin COSM4943347 EYA1 c.210G>A p.G70G Substitution - coding silent Liver COSM455703 PSIP1 c.833_835delAAG p.E278delE Deletion - In frame Breast COSM1357982 KDM4D c.271delA p.K93fs*4 Deletion - Frameshift Prostate COSM1560993 PCGF6 c.83_84insGCCTCC p.P28_V29insPP Insertion - In frame Large_intestine COSM1228054 SUZ12 c.1926T>G p.N642K Substitution - Missense Large_intestine COSM3911757 DIDO1 c.6428C>T p.S2143F Substitution - Missense Skin COSM24281 MYST2 c.1513G>A p.G505S Substitution - Missense Lung COSM1385433 BPTF c.4188A>T p.E1396D Substitution - Missense Large_intestine COSM1741809 NSD1 c.4966+6G>C p.? Unknown Urinary_tract COSM21756 TP53BP1 c.5767G>A p.D1923N Substitution - Missense Skin COSM4574677 KAT5 c.1323C>T p.D441D Substitution - coding silent Bone COSM5970725 KMT2D c.7592G>C p.R2531P Substitution - Missense Upper_aerodigestive_tract COSM242299 ZBTB38 c.1729C>T p.P577S Substitution - Missense Prostate COSM1388722 SETBP1 c.2959C>T p.R987W Substitution - Missense Skin COSM4410268 MUM1 c.1706G>A p.R569Q Substitution - Missense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4728608 SMYD2 c.688A>T p.I230F Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1623573 ATAD2 c.843A>T p.E281D Substitution - Missense Liver COSM228110 KMT2C c.1042G>A p.D348N Substitution - Missense Thyroid COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3528391 CARM1 c.420G>A p.R140R Substitution - coding silent Skin COSM1616517 TCF20 c.5454A>G p.E1818E Substitution - coding silent Liver COSM4472351 DAXX c.1742C>T p.S581F Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3368095 JMJD1C c.1357A>T p.R453* Substitution - Nonsense Thyroid COSM3764424 KMT2D c.14375G>A p.C4792Y Substitution - Missense Central_nervous_system COSM945762 MPHOSPH8 c.436G>T p.E146* Substitution - Nonsense Endometrium COSM447656 ING2 c.39C>T p.A13A Substitution - coding silent Thyroid COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM228110 KMT2C c.1042G>A p.D348N Substitution - Missense Soft_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3365338 SETD2 c.6024G>A p.K2008K Substitution - coding silent Kidney COSM3301666 CLOCK c.2460A>G p.Q820Q Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4567034 SMARCC2 c.543_544CC>TT p.P182S Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM236844 RAG2 c.245G>T p.G82V Substitution - Missense Prostate COSM5940812 AP001011.3_ENST00000320876 c.2963C>T p.S988F Substitution - Missense Skin COSM1233566 ZMYND8 c.1391C>G p.S464C Substitution - Missense Large_intestine COSM4943277 ATRX c.2551G>C p.E851Q Substitution - Missense Breast COSM944336 PHC1 c.1287G>A p.Q429Q Substitution - coding silent Large_intestine COSM4381993 ZMYM3 c.1300G>C p.D434H Substitution - Missense Large_intestine COSM956519 ARID4A c.43G>A p.D15N Substitution - Missense Endometrium COSM5380689 PHC2 c.1664G>A p.G555D Substitution - Missense Skin COSM3493325 BRDT c.803A>G p.K268R Substitution - Missense Skin COSM419309 C20orf20 c.280G>C p.E94Q Substitution - Missense Urinary_tract COSM4917612 MBD1 c.226G>T p.A76S Substitution - Missense Liver COSM145956 SMARCD3 c.1012G>A p.D338N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM961983 TP53BP1 c.1076C>A p.S359Y Substitution - Missense Endometrium COSM1757177 MLL5 c.4441C>T p.H1481Y Substitution - Missense Urinary_tract COSM921435 BTAF1 c.3926A>G p.H1309R Substitution - Missense Endometrium COSM1013210 TET2 c.1717C>T p.H573Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM46448 HNF1A c.1107+1G>T p.? Unknown Liver COSM3421811 BPTF c.1526A>C p.K509T Substitution - Missense Large_intestine COSM4713970 PHF2 c.804C>G p.F268L Substitution - Missense Large_intestine COSM4843656 DIDO1 c.6127G>A p.E2043K Substitution - Missense Cervix COSM450439 NCOA7 c.2440G>C p.G814R Substitution - Missense Breast COSM5487160 EP300 c.3874+2T>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1351611 KMT2A c.2584C>T p.R862* Substitution - Nonsense Skin COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Endometrium COSM4107985 HCFC1 c.1131C>T p.T377T Substitution - coding silent Stomach COSM5505666 KDM4A c.1183G>A p.G395R Substitution - Missense Biliary_tract COSM5977857 PRDM2 c.159_160insA p.F56fs*7 Insertion - Frameshift Upper_aerodigestive_tract COSM379270 DIDO1 c.663C>T p.N221N Substitution - coding silent Lung COSM1377481 SRCAP c.7628_7629insC p.R2548fs*3 Insertion - Frameshift Large_intestine COSM3928192 ARID1B c.2902C>T p.Q968* Substitution - Nonsense Central_nervous_system COSM4766205 HDAC6 c.1808C>T p.A603V Substitution - Missense Stomach COSM3855007 NIPBL c.1656C>T p.D552D Substitution - coding silent Stomach COSM3917188 SETD7 c.783C>T p.A261A Substitution - coding silent Skin COSM4169924 CHD8 c.2463G>A p.W821* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3912237 AIRE c.990C>T p.I330I Substitution - coding silent Skin COSM329558 PRDM1 c.1979A>G p.Y660C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5140356 ATRX c.6792_6794delAGA p.E2265delE Deletion - In frame Large_intestine COSM477213 DNMT3A c.977G>A p.R326H Substitution - Missense Kidney COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM77580 DHX30 c.1666G>A p.V556I Substitution - Missense Ovary COSM75011 ING1 c.705G>T p.W235C Substitution - Missense Ovary COSM94802 KAT6B c.3494A>C p.E1165A Substitution - Missense Ovary COSM107494 TRRAP c.2165C>T p.S722F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM95815 CREBBP c.4860G>A p.K1620K Substitution - coding silent Lung COSM97191 TET2 c.4893T>A p.Y1631* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM110708 ASXL1 c.1782C>A p.C594* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM96416 CREBBP c.3211G>A p.A1071T Substitution - Missense Ovary COSM128303 KDM4D c.1542T>A p.A514A Substitution - coding silent Upper_aerodigestive_tract COSM266105 BTAF1 c.5225G>A p.R1742H Substitution - Missense Large_intestine COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Large_intestine COSM307695 SETD2 c.3352G>A p.G1118R Substitution - Missense Kidney COSM326141 PHF8 c.2020A>T p.M674L Substitution - Missense Lung COSM347811 PRDM4 c.661G>T p.E221* Substitution - Nonsense Lung COSM376544 ERCC6 c.295G>T p.V99F Substitution - Missense Lung COSM399792 DOT1L c.2515C>T p.Q839* Substitution - Nonsense Lung COSM423662 PRDM2 c.3369_3371delTGT p.V1126delV Deletion - In frame Breast COSM423663 PRDM2 c.3889A>T p.S1297C Substitution - Missense Breast COSM417389 BPTF c.3526G>A p.E1176K Substitution - Missense Urinary_tract COSM438026 AP001011.3_ENST00000320876 c.3824G>T p.R1275I Substitution - Missense Breast COSM446845 PBRM1 c.1182G>C p.R394S Substitution - Missense Breast COSM987929 ASXL3 c.2481C>T p.L827L Substitution - coding silent Endometrium COSM985468 CHD3 c.2582C>T p.S861L Substitution - Missense Endometrium COSM1600583 TRIM33 c.2768+10A>G p.? Unknown Liver COSM683845 SUV39H2 c.512C>G p.S171* Substitution - Nonsense Lung COSM941753 BAZ2A_ENST00000379441 c.3062C>T p.A1021V Substitution - Missense Endometrium COSM937141 EP400 c.1077G>T p.P359P Substitution - coding silent Endometrium COSM745881 KMT2C c.8206G>C p.D2736H Substitution - Missense Lung COSM750469 WHSC1L1 c.1309G>C p.E437Q Substitution - Missense Lung COSM731338 BRPF1 c.2787C>T p.H929H Substitution - coding silent Lung COSM934527 PRDM4 c.585G>T p.E195D Substitution - Missense Endometrium COSM1043290 KAT2B c.938G>A p.R313H Substitution - Missense Endometrium COSM1041413 TBL1XR1 c.1046C>T p.T349M Substitution - Missense Endometrium COSM970560 CREBBP c.4901T>C p.V1634A Substitution - Missense Endometrium COSM970602 CREBBP c.1937G>A p.S646N Substitution - Missense Endometrium COSM1093605 TRRAP c.3646C>T p.R1216W Substitution - Missense Stomach COSM1230623 TRRAP c.10195G>A p.V3399I Substitution - Missense Large_intestine COSM1250503 DNMT3L c.538G>A p.E180K Substitution - Missense Skin COSM1263592 PWWP2B c.836C>T p.P279L Substitution - Missense Large_intestine COSM1180098 KMT2C c.1005T>A p.P335P Substitution - coding silent Soft_tissue COSM1226790 SMARCD1 c.703C>T p.R235W Substitution - Missense Large_intestine COSM1190583 ATRX c.5649G>T p.W1883C Substitution - Missense Lung COSM1190276 EYA2 c.247C>T p.P83S Substitution - Missense Lung COSM1606379 SMARCC2 c.1984C>T p.Q662* Substitution - Nonsense Liver COSM1288191 SRCAP c.539A>G p.E180G Substitution - Missense Autonomic_ganglia COSM1296231 ARID1A c.6619C>T p.Q2207* Substitution - Nonsense Urinary_tract COSM1322557 KDM5A c.1963C>G p.Q655E Substitution - Missense Ovary COSM1384605 AKAP1 c.543C>T p.G181G Substitution - coding silent Large_intestine COSM1457746 CHD7 c.7469C>T p.S2490L Substitution - Missense Skin COSM1341864 PRDM16 c.1012G>A p.E338K Substitution - Missense Large_intestine COSM1349118 KAT6B c.1430A>G p.H477R Substitution - Missense Large_intestine COSM1353802 ALKBH3 c.561C>T p.S187S Substitution - coding silent Oesophagus COSM1358323 HCFC2 c.977G>A p.R326Q Substitution - Missense Large_intestine COSM1512174 ARID2 c.820C>T p.R274* Substitution - Nonsense Skin COSM1482941 ATAD2B_ENST00000238789 c.3438A>T p.K1146N Substitution - Missense Breast COSM1490065 KDM4C c.145G>C p.V49L Substitution - Missense Breast COSM1578111 ARID1A c.1712C>T p.S571L Substitution - Missense Urinary_tract COSM1609223 MYST1 c.997A>G p.I333V Substitution - Missense Liver COSM1619520 BRD8 c.2218A>G p.I740V Substitution - Missense Liver COSM1625264 PHF2 c.2899T>G p.S967A Substitution - Missense Liver COSM1579293 PHF20L1 c.721C>T p.Q241* Substitution - Nonsense Fallopian_tube COSM1632621 EP300 c.3391T>A p.Y1131N Substitution - Missense Liver COSM1643601 MYST3 c.5378A>G p.Q1793R Substitution - Missense Stomach COSM1679534 KDM6B c.2446T>G p.Y816D Substitution - Missense Large_intestine COSM1721363 SP100 c.2014-9delC p.? Unknown Skin COSM1666500 BAP1 c.915_916insTG p.E306fs*30 Insertion - Frameshift Eye COSM1663940 RNF2 c.305C>T p.P102L Substitution - Missense Kidney COSM2157190 VPS72 c.1035T>A p.P345P Substitution - coding silent Central_nervous_system COSM2749505 LMNB2 c.507C>T p.D169D Substitution - coding silent Large_intestine COSM3353136 TDRD6 c.5345A>C p.N1782T Substitution - Missense Large_intestine COSM3370175 TP53BP1 c.2926G>T p.G976W Substitution - Missense Thyroid COSM3508213 GTF3C1 c.4621C>T p.R1541C Substitution - Missense Stomach COSM3463555 BAZ2A_ENST00000379441 c.509C>T p.S170F Substitution - Missense Skin COSM3460326 PRMT8 c.38G>A p.R13K Substitution - Missense Skin COSM3525877 SETBP1 c.4260C>T p.I1420I Substitution - coding silent Skin COSM3723036 PHF21B c.744G>A p.S248S Substitution - coding silent Stomach COSM3763348 MYST3 c.2982G>A p.P994P Substitution - coding silent Soft_tissue COSM3775759 WHSC1 c.3550C>T p.L1184L Substitution - coding silent Urinary_tract COSM3783623 HDAC8 c.707A>G p.Q236R Substitution - Missense Prostate COSM3863723 TDRD5 c.488G>A p.R163Q Substitution - Missense Skin COSM3852228 HDAC3 c.1137C>T p.D379D Substitution - coding silent Stomach COSM3958640 SMARCD2 c.1120C>T p.Q374* Substitution - Nonsense Lung COSM3973224 SMARCA1 c.1300G>C p.D434H Substitution - Missense Central_nervous_system COSM3965797 VPS72 c.312G>A p.P104P Substitution - coding silent Central_nervous_system COSM3981140 KAT6B c.3803G>C p.G1268A Substitution - Missense Ovary COSM4015096 JMJD1C c.5584A>G p.S1862G Substitution - Missense Stomach COSM4149437 TRRAP c.2485G>C p.D829H Substitution - Missense Biliary_tract COSM4170547 ASH1L c.5438A>G p.Y1813C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4385608 TET2 c.5108_5109insG p.D1704fs*9 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4414101 PHF15 c.453C>A p.N151K Substitution - Missense Kidney COSM4444609 BPTF c.3959G>T p.R1320I Substitution - Missense Large_intestine COSM4578349 PYGO1 c.49G>A p.G17S Substitution - Missense Bone COSM4475228 KDM6B c.1972C>A p.P658T Substitution - Missense Skin COSM4481711 DIDO1 c.2535C>T p.R845R Substitution - coding silent Skin COSM4770177 PBRM1 c.4576+5_4576+6insGAG p.? Unknown Soft_tissue COSM4731952 TAF1 c.5224C>T p.Q1742* Substitution - Nonsense Large_intestine COSM4728347 SMARCC2 c.1106C>T p.S369L Substitution - Missense Large_intestine COSM4695068 JMJD5 c.623T>C p.L208P Substitution - Missense Large_intestine COSM4766100 TET2 c.5245_5246insA p.M1749fs*4 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4774400 PRDM5 c.957A>G p.I319M Substitution - Missense Stomach COSM4749134 PCNA c.5T>C p.F2S Substitution - Missense Stomach COSM4749841 DNMT1 c.406C>T p.R136C Substitution - Missense Stomach COSM4807291 ARID1A c.3188G>T p.G1063V Substitution - Missense Pancreas COSM4901153 DUSP1 c.654C>T p.Y218Y Substitution - coding silent Skin COSM4840046 TAF1 c.684A>C p.E228D Substitution - Missense Cervix COSM4878795 BAHCC1 c.3105C>T p.A1035A Substitution - coding silent Prostate COSM4817227 ARID1B c.2002C>T p.P668S Substitution - Missense Cervix COSM4822159 SIRT4 c.44G>A p.R15H Substitution - Missense Cervix COSM4950262 DIDO1 c.2612_2613insA p.Q872fs*8 Insertion - Frameshift Liver COSM4988877 NSD1 c.2071G>A p.A691T Substitution - Missense Soft_tissue COSM5005363 ZMYM3 c.2843_2844insCT p.S950fs*8 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5012454 PRDM10 c.926A>G p.Y309C Substitution - Missense Kidney COSM5134294 KDM4B c.1508C>T p.P503L Substitution - Missense Large_intestine COSM5347033 ARID1A c.818C>T p.A273V Substitution - Missense Endometrium COSM5412863 PHF8 c.1658C>T p.S553L Substitution - Missense Skin COSM5510908 KAT2A c.1292G>A p.G431D Substitution - Missense Biliary_tract COSM5476365 DNMT3A c.1269G>A p.E423E Substitution - coding silent Large_intestine COSM5431051 EP400 c.4448-8G>T p.? Unknown Oesophagus COSM5450561 EHMT1 c.1698+9C>A p.? Unknown Large_intestine COSM5450671 BRWD3 c.1932G>A p.E644E Substitution - coding silent Large_intestine COSM5624540 MECOM c.747A>G p.G249G Substitution - coding silent Oesophagus COSM5646615 PRDM10 c.1501G>T p.D501Y Substitution - Missense Oesophagus COSM5623046 HCFC1 c.5768C>G p.S1923C Substitution - Missense Oesophagus COSM5757583 UTY c.1504G>A p.V502I Substitution - Missense Large_intestine COSM5715653 INOC1 c.3583G>A p.D1195N Substitution - Missense Skin COSM5726407 NIPBL c.3419G>A p.S1140N Substitution - Missense Skin COSM5719460 RBBP5 c.736C>T p.Q246* Substitution - Nonsense Skin COSM5719961 BRPF1 c.3146C>T p.T1049I Substitution - Missense Skin COSM5736639 PBRM1 c.320A>G p.D107G Substitution - Missense Small_intestine COSM5619481 HDAC8 c.159G>A p.Q53Q Substitution - coding silent Breast COSM5619800 ACTB c.280C>G p.L94V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5606486 DOT1L c.3889C>T p.P1297S Substitution - Missense Skin COSM5702177 RSF1 c.2040_2041GG>TC p.M680_D681>IH Complex - compound substitution Soft_tissue COSM5662816 DNMT3A c.2122A>T p.S708C Substitution - Missense Soft_tissue COSM5680020 GLYR1 c.332G>A p.R111H Substitution - Missense Soft_tissue COSM5711279 SMARCA2 c.3220C>A p.Q1074K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5927889 CHD6 c.7817C>T p.P2606L Substitution - Missense Skin COSM5932504 TAF1L c.2525G>A p.R842Q Substitution - Missense Skin COSM5955072 PRDM1 c.276G>A p.K92K Substitution - coding silent Upper_aerodigestive_tract COSM5987958 PRDM8 c.661T>A p.L221I Substitution - Missense Salivary_gland COSM5990055 TET2 c.1858_1859insA p.Y620fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM6002012 MYST1 c.296G>A p.R99Q Substitution - Missense Prostate COSM5972730 MUM1 c.407C>T p.S136F Substitution - Missense Upper_aerodigestive_tract COSM5999090 TAF3 c.61C>G p.L21V Substitution - Missense Prostate COSM6004399 CHD6 c.3403C>T p.R1135C Substitution - Missense Prostate COSM4167279 TET2 c.? p.Q1680R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM253389 DNMT3A c.? p.L901R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM42001 TET2 c.4999_5014del16 p.L1667fs*23 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1685350 EZH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4169587 EZH2 c.? p.A656V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1698984 TRRAP c.7846C>T p.P2616S Substitution - Missense Skin COSM434990 JMJD5 c.1204G>A p.V402M Substitution - Missense Large_intestine COSM223030 HDAC3 c.272G>A p.G91D Substitution - Missense Skin COSM3645238 PHF20L1 c.736C>T p.Q246* Substitution - Nonsense Skin COSM2105632 KMT2A c.10938G>T p.L3646L Substitution - coding silent Large_intestine COSM244026 DHX30 c.3016A>C p.N1006H Substitution - Missense Prostate COSM5570064 PHF21B c.1499C>T p.T500M Substitution - Missense Prostate COSM21481 HNF1A c.872_873insC p.G292fs*25 Insertion - Frameshift Liver COSM3925539 NCOA2 c.2466C>T p.F822F Substitution - coding silent Skin COSM2034961 GLYATL1 c.375C>T p.I125I Substitution - coding silent Skin COSM3666005 KMT2A c.4702T>G p.F1568V Substitution - Missense Liver COSM1737774 TAF1L c.4183C>T p.R1395* Substitution - Nonsense Breast COSM4410659 MYST2 c.326A>G p.D109G Substitution - Missense Kidney COSM88778 EP300 c.1768G>C p.A590P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41644 TET2 c.1648C>T p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1049749 TET2 c.1632A>G p.R544R Substitution - coding silent Endometrium COSM3379109 DIDO1 c.2067C>T p.S689S Substitution - coding silent Pancreas COSM1066227 NSD1 c.2802C>A p.V934V Substitution - coding silent Endometrium COSM5944860 PHF6 c.187_188insAAGC p.G63fs*7 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM144712 PHF6 c.? p.C280Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4959088 BRPF3 c.2525G>A p.G842E Substitution - Missense Liver COSM5381133 RAD54L c.141C>T p.F47F Substitution - coding silent Skin COSM674239 TRIM33 c.2412T>G p.A804A Substitution - coding silent Lung COSM1315842 ASXL1 c.2601_2601delG p.G869fs*7 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM254550 ARID1A c.4477C>T p.Q1493* Substitution - Nonsense Urinary_tract COSM1251232 EP400 c.8176_8181delCAACAA p.Q2747_Q2748delQQ Deletion - In frame Oesophagus COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM5492720 PHRF1 c.2375G>A p.S792N Substitution - Missense Biliary_tract COSM932199 RSF1 c.2585G>A p.S862N Substitution - Missense Endometrium COSM4735984 TIF1 c.508G>A p.A170T Substitution - Missense Large_intestine COSM42028 TET2 c.3640C>T p.R1214W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1679859 HDAC5 c.3263C>T p.A1088V Substitution - Missense Large_intestine COSM3735735 NCOA7 c.812C>T p.P271L Substitution - Missense Skin COSM1488407 KMT2C c.1251T>A p.C417* Substitution - Nonsense Breast COSM5507270 SETD2 c.4086C>T p.S1362S Substitution - coding silent Biliary_tract COSM4159839 PRDM9 c.2042C>G p.T681S Substitution - Missense Upper_aerodigestive_tract COSM254633 CREBBP c.2515C>T p.Q839* Substitution - Nonsense Urinary_tract COSM3765012 PHF16 c.1474C>T p.R492* Substitution - Nonsense Central_nervous_system COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1611971 DOT1L c.4849G>A p.V1617I Substitution - Missense Liver COSM4064157 NCOR1 c.4469A>G p.N1490S Substitution - Missense Stomach COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5701738 ZMYM3 c.1186_1187CC>AA p.P396K Substitution - Missense Soft_tissue COSM4925386 HDAC9 c.547G>A p.A183T Substitution - Missense Liver COSM5944523 TET2 c.5604_5605insG p.S1870fs*5 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3696844 NSD1 c.5565A>T p.R1855S Substitution - Missense Large_intestine COSM741467 ATAT1 c.910G>A p.A304T Substitution - Missense Lung COSM1476840 CHD4 c.1863G>A p.W621* Substitution - Nonsense Breast COSM179790 SFMBT2 c.264G>A p.P88P Substitution - coding silent Lung COSM1075 SMARCB1 c.617G>A p.W206* Substitution - Nonsense Soft_tissue COSM4392213 SMEK2 c.106A>G p.K36E Substitution - Missense Prostate COSM4671303 CDYL2 c.244C>T p.R82* Substitution - Nonsense Large_intestine COSM4497019 MEN1 c.473C>T p.A158V Substitution - Missense Skin COSM1660805 BTAF1 c.4552C>G p.Q1518E Substitution - Missense Kidney COSM304495 PHIP c.2897A>G p.Y966C Substitution - Missense Large_intestine COSM2067882 ARID2 c.4951T>C p.Y1651H Substitution - Missense Large_intestine COSM675458 POGZ c.2965A>T p.T989S Substitution - Missense Lung COSM4636216 JMJD1C c.463G>C p.D155H Substitution - Missense Large_intestine COSM53024 EZH2 c.730T>G p.Y244D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3615188 PRDM9 c.230G>A p.R77Q Substitution - Missense Skin COSM4749416 SFMBT2 c.2677G>A p.A893T Substitution - Missense Stomach COSM1625939 SUV39H1 c.1065C>T p.I355I Substitution - coding silent Liver COSM4772410 ATRX c.6047A>G p.H2016R Substitution - Missense Stomach COSM4954548 BAP1 c.1908G>T p.L636L Substitution - coding silent Liver COSM5945118 EZH2 c.1883G>T p.G628V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1257804 MLL5 c.2888G>A p.R963H Substitution - Missense Large_intestine COSM4979771 SMEK2 c.1641G>T p.L547F Substitution - Missense Oesophagus COSM4575779 PHC1 c.236C>G p.A79G Substitution - Missense Bone COSM1738263 TAF1 c.4325G>A p.R1442Q Substitution - Missense Ovary COSM1743868 NCOA1 c.440A>G p.N147S Substitution - Missense Biliary_tract COSM252858 TAF3 c.1318G>A p.A440T Substitution - Missense Ovary COSM144213 ATRX c.5269G>T p.E1757* Substitution - Nonsense Central_nervous_system COSM4162024 KMT2C c.946A>T p.T316S Substitution - Missense Upper_aerodigestive_tract COSM5443544 NSD1 c.5916G>C p.V1972V Substitution - coding silent Oesophagus COSM1183843 ASXL3 c.2276G>T p.R759M Substitution - Missense Large_intestine COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM189458 PHF21A c.480C>T p.T160T Substitution - coding silent Stomach COSM1130127 CBX4 c.657T>G p.G219G Substitution - coding silent Thymus COSM4591406 DIDO1 c.4867G>A p.E1623K Substitution - Missense Upper_aerodigestive_tract COSM1087045 EZH2 c.1356C>G p.Y452* Substitution - Nonsense Endometrium COSM3867843 KAT6B c.2472C>T p.F824F Substitution - coding silent Skin COSM4937062 AKAP1 c.1813G>T p.V605F Substitution - Missense Liver COSM3512606 CDYL2 c.837C>T p.I279I Substitution - coding silent Skin COSM404866 SETD2 c.1116delG p.S373fs*15 Deletion - Frameshift Lung COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5050061 SUV39H2 c.739G>A p.D247N Substitution - Missense Stomach COSM4135695 MEN1 c.536A>G p.E179G Substitution - Missense Pancreas COSM5428708 TRIM24 c.276C>A p.P92P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3741888 SRCAP c.133G>A p.G45S Substitution - Missense Liver COSM1190468 TCF20 c.3853C>T p.L1285F Substitution - Missense Lung COSM1580707 CHD3 c.2678C>T p.S893F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5020670 TIF1 c.2164C>T p.P722S Substitution - Missense Skin COSM5986528 KMT2D c.665_666insGC p.Y223fs*39 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2773690 KIAA1045 c.106C>T p.R36C Substitution - Missense Pancreas COSM4159840 PRDM9 c.2191A>G p.N731D Substitution - Missense Large_intestine COSM5724750 PRDM9 c.268G>A p.D90N Substitution - Missense Skin COSM5574703 KDM4B c.766A>T p.I256F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3461187 HDAC7 c.2842G>A p.E948K Substitution - Missense Skin COSM303879 CTCF c.1130G>A p.R377H Substitution - Missense Stomach COSM937506 ATF7IP c.2210A>G p.K737R Substitution - Missense Endometrium COSM3368106 SFMBT2 c.1503G>T p.V501V Substitution - coding silent Thyroid COSM4961462 PRDM10 c.3446G>A p.S1149N Substitution - Missense Liver COSM356706 KDM4D c.79G>A p.E27K Substitution - Missense Breast COSM1470411 JMJD1C c.3585A>C p.S1195S Substitution - coding silent Prostate COSM4735989 TRIM24 c.1265C>A p.S422Y Substitution - Missense Large_intestine COSM4507599 SETD1A c.750C>T p.S250S Substitution - coding silent Skin COSM1095774 ATAD2 c.467G>A p.R156Q Substitution - Missense Large_intestine COSM1201000 CHD7 c.7172C>T p.A2391V Substitution - Missense Large_intestine COSM3793565 CHD8 c.3996G>A p.Q1332Q Substitution - coding silent Urinary_tract COSM2866847 TRRAP c.10004delC p.H3337fs*6 Deletion - Frameshift Large_intestine COSM5757546 PHF16 c.650T>C p.M217T Substitution - Missense Large_intestine COSM3630862 ACTL6B c.822-1G>A p.? Unknown Skin COSM4961462 PRDM10 c.3446G>A p.S1149N Substitution - Missense Liver COSM71029 HDAC5 c.1747C>G p.Q583E Substitution - Missense Ovary COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1168020 TET2 c.3182_3182delC p.P1061fs*5 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1740324 BPTF c.7151A>G p.Q2384R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34192 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM1088171 HDAC9 c.1428G>T p.E476D Substitution - Missense Endometrium COSM1017683 TET2 c.695A>G p.Q232R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM175033 ASH1L c.2951G>A p.R984H Substitution - Missense Large_intestine COSM4728320 SMARCB1 c.1096C>T p.R366C Substitution - Missense Large_intestine COSM2965463 KDM6A c.3708C>T p.N1236N Substitution - coding silent Upper_aerodigestive_tract COSM3883726 TRRAP c.4611A>G p.R1537R Substitution - coding silent Stomach COSM379452 MYST3 c.3691G>A p.A1231T Substitution - Missense Lung COSM1324720 CHD3 c.5475C>G p.P1825P Substitution - coding silent Ovary COSM5476666 HDGFL1 c.334G>C p.A112P Substitution - Missense Large_intestine COSM4042338 KMT2D c.14080C>T p.R4694C Substitution - Missense Stomach COSM3425267 MBD5 c.2762C>A p.S921Y Substitution - Missense Large_intestine COSM3855037 NIPBL c.5335C>T p.R1779* Substitution - Nonsense Stomach COSM4725156 SETD2 c.3532G>A p.G1178R Substitution - Missense Large_intestine COSM436133 RAI1 c.493C>A p.P165T Substitution - Missense Thyroid COSM5722747 SETBP1 c.2717C>T p.P906L Substitution - Missense Skin COSM6017471 DPF1 c.983C>T p.P328L Substitution - Missense Skin COSM1580073 BAP1 c.1357A>G p.K453E Substitution - Missense Central_nervous_system COSM1186267 SETD2 c.3937G>T p.E1313* Substitution - Nonsense Breast COSM245971 NCOR1 c.114C>T p.F38F Substitution - coding silent Skin COSM3396810 KMT2C c.2072C>G p.S691C Substitution - Missense Breast COSM5776390 RERE c.3349G>A p.E1117K Substitution - Missense Breast COSM3964838 FMR1 c.51+8G>A p.? Unknown Lung COSM3206351 FXR1 c.1527A>G p.R509R Substitution - coding silent Upper_aerodigestive_tract COSM1323613 GTF3C1 c.4274_4289del16 p.H1425fs*3 Deletion - Frameshift Ovary COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4981344 EZH1 c.1408C>G p.Q470E Substitution - Missense Oesophagus COSM5019600 ARID1B c.3960-7A>G p.? Unknown Soft_tissue COSM4706990 NIPBL c.6656delT p.L2220fs*10 Deletion - Frameshift Large_intestine COSM4593173 CBX4 c.691A>C p.N231H Substitution - Missense Upper_aerodigestive_tract COSM40369 NCOA6 c.825G>A p.Q275Q Substitution - coding silent Central_nervous_system COSM5496234 ZMYM5 c.454G>A p.D152N Substitution - Missense Biliary_tract COSM245636 MECOM c.333A>G p.A111A Substitution - coding silent Prostate COSM1101395 PRDM14 c.751G>T p.E251* Substitution - Nonsense Endometrium COSM3618524 BRD9 c.96C>T p.F32F Substitution - coding silent Skin COSM81139 EPC1 c.715C>A p.R239R Substitution - coding silent Ovary COSM395447 PRDM11 c.148G>T p.V50L Substitution - Missense Lung COSM1192753 CBX5 c.317delA p.K106fs*31 Deletion - Frameshift Large_intestine COSM5630441 SMC1A c.1306G>C p.E436Q Substitution - Missense Oesophagus COSM4725181 C5orf35 c.837C>T p.V279V Substitution - coding silent Large_intestine COSM5459295 TRIM24 c.1842A>G p.P614P Substitution - coding silent Large_intestine COSM3810238 SUV420H1 c.2161C>T p.R721C Substitution - Missense Breast COSM1605260 RSF1 c.1415A>G p.Y472C Substitution - Missense Liver COSM4633708 MBD6 c.2421G>A p.Q807Q Substitution - coding silent Large_intestine COSM4162016 KMT2C c.2352C>A p.S784S Substitution - coding silent Large_intestine COSM5047248 KMT2D c.2337delC p.S780fs*3 Deletion - Frameshift Oesophagus COSM254904 PRDM10 c.82C>G p.P28A Substitution - Missense Urinary_tract COSM458596 TDRKH c.805G>T p.G269C Substitution - Missense Cervix COSM3929609 CHD7 c.3122T>G p.L1041W Substitution - Missense Central_nervous_system COSM4105077 HDAC10 c.1174G>T p.A392S Substitution - Missense Stomach COSM5639928 NCOA2 c.4329C>T p.F1443F Substitution - coding silent Oesophagus COSM1698419 STK31 c.729G>A p.W243* Substitution - Nonsense Skin COSM1078492 BRPF3 c.3385G>A p.A1129T Substitution - Missense Endometrium COSM4791712 BAHCC1 c.794G>A p.G265D Substitution - Missense Liver COSM5638586 PHF13 c.712A>G p.M238V Substitution - Missense Oesophagus COSM95706 MECOM c.569-2A>T p.? Unknown Lung COSM1286176 MGA c.9202G>T p.A3068S Substitution - Missense Autonomic_ganglia COSM2732614 PHF2 c.1716G>T p.L572L Substitution - coding silent Skin COSM4761583 EYA4 c.137A>T p.D46V Substitution - Missense Stomach COSM3394271 PHF3 c.5614C>G p.L1872V Substitution - Missense Pancreas COSM1664265 SMARCA1 c.2185T>G p.F729V Substitution - Missense Kidney COSM1358324 HCFC2 c.1063+2T>C p.? Unknown Large_intestine COSM5901519 TRRAP c.11152C>T p.P3718S Substitution - Missense Skin COSM5633291 CHD8 c.775G>C p.A259P Substitution - Missense Oesophagus COSM13857 CHD6 c.5860G>A p.E1954K Substitution - Missense Lung COSM4169012 EYA4 c.1831G>T p.A611S Substitution - Missense Peritoneum COSM423047 PBRM1 c.489delT p.D163fs*11 Deletion - Frameshift Kidney COSM1318632 TET2 c.822delC p.N275fs*18 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1440574 EYA4 c.350T>C p.L117P Substitution - Missense Large_intestine COSM1207952 GATAD2A c.1285G>A p.V429M Substitution - Missense Large_intestine COSM443834 CHD6 c.6409C>T p.R2137* Substitution - Nonsense Lung COSM4070317 CBX4 c.333G>A p.A111A Substitution - coding silent Stomach COSM4728439 AP001011.3_ENST00000320876 c.4516C>T p.R1506C Substitution - Missense Large_intestine COSM5009482 KMT2C c.1577G>C p.R526P Substitution - Missense Soft_tissue COSM1071555 CHD1 c.434A>C p.K145T Substitution - Missense Endometrium COSM3512605 CDYL2 c.1145C>T p.P382L Substitution - Missense Skin COSM433833 MGA c.4621C>T p.R1541C Substitution - Missense Central_nervous_system COSM5825123 PHF14 c.2733C>T p.Y911Y Substitution - coding silent Pancreas COSM1665897 CHD2 c.3886-2A>G p.? Unknown Kidney COSM2153183 SETD1A c.131G>A p.G44E Substitution - Missense Central_nervous_system COSM5460143 HDGFL1 c.624C>T p.S208S Substitution - coding silent Large_intestine COSM419075 SMYD1 c.341T>G p.V114G Substitution - Missense Skin COSM220532 KDM4C c.3124A>G p.T1042A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1460904 WDR5 c.641_642insC p.V217fs*42 Insertion - Frameshift Breast COSM1124815 ZMYM3 c.1487A>G p.Y496C Substitution - Missense Endometrium COSM4263947 RAI1 c.843G>A p.Q281Q Substitution - coding silent Large_intestine COSM3378509 MBD1 c.1443G>A p.L481L Substitution - coding silent Pancreas COSM5572408 MBD5 c.544T>C p.Y182H Substitution - Missense Prostate COSM53247 TET2 c.1379C>T p.S460F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2732633 PHF2 c.2851delA p.K953fs*7 Deletion - Frameshift Large_intestine COSM1246200 BPTF c.3702A>C p.K1234N Substitution - Missense Oesophagus COSM4172513 IDH1 c.? p.I189V Substitution - Missense Skin COSM5695820 STK31 c.1442T>A p.V481E Substitution - Missense Soft_tissue COSM1754847 TDRD6 c.4098T>G p.D1366E Substitution - Missense Urinary_tract COSM921723 HELLS c.2408G>A p.R803Q Substitution - Missense Cervix COSM4066513 KAT2A c.2103G>A p.R701R Substitution - coding silent Stomach COSM3428934 BRD8 c.3641G>T p.R1214I Substitution - Missense Large_intestine COSM5947046 PRDM9 c.952T>C p.Y318H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4049853 CHD8 c.2535G>A p.Q845Q Substitution - coding silent Stomach COSM5357953 EZH2 c.1097A>C p.N366T Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM238842 ARID1A c.5849G>A p.R1950Q Substitution - Missense Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5878953 TET2 c.1606delA p.E537fs*5 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5661449 HDAC7 c.1350C>T p.L450L Substitution - coding silent Soft_tissue COSM4660056 ADNP c.191C>T p.T64M Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5834608 PHC3 c.965delA p.N322fs*42 Deletion - Frameshift Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5967146 ARID1A c.6448_6470del23 p.T2150fs*67 Deletion - Frameshift Salivary_gland COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4399765 ARID2 c.1468C>T p.Q490* Substitution - Nonsense Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4949880 ARID1A c.5504A>G p.Q1835R Substitution - Missense Liver COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4096167 SMYD1 c.1386C>T p.R462R Substitution - coding silent Stomach COSM4997239 ARID4A c.319_322delTGTC p.C107fs*1 Deletion - Frameshift Pituitary COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM13368 TAF1L c.2625G>A p.G875G Substitution - coding silent Central_nervous_system COSM373978 SFMBT2 c.1332G>C p.G444G Substitution - coding silent Lung COSM1211740 KDM4B c.877G>A p.A293T Substitution - Missense Large_intestine COSM5357047 L3MBTL3 c.1736+4_1736+12delTGTGGTAGC p.? Unknown Large_intestine COSM3812157 KMT2D c.12600G>T p.K4200N Substitution - Missense Breast COSM3656304 PSIP1 c.444G>A p.G148G Substitution - coding silent Skin COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1131919 EHMT2 c.3054C>A p.N1018K Substitution - Missense Prostate COSM1618333 PRDM5 c.1146A>G p.G382G Substitution - coding silent Liver COSM1169601 PBRM1 c.4019_4022delCTTC p.P1340fs*43 Deletion - Frameshift Kidney COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1739862 KMT2D c.15004G>C p.A5002P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4731989 TAF1L c.166G>A p.V56I Substitution - Missense Large_intestine COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5047368 ARID2 c.3928G>C p.G1310R Substitution - Missense Oesophagus COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM2131864 TRDMT1 c.947T>C p.V316A Substitution - Missense Large_intestine COSM4592287 SP140_ENST00000392045 c.1948C>G p.P650A Substitution - Missense Upper_aerodigestive_tract COSM3396079 BAZ2A_ENST00000379441 c.4579C>T p.R1527W Substitution - Missense Prostate COSM5501979 PHF8 c.99-3C>T p.? Unknown Biliary_tract COSM5444772 ATRX c.2375C>G p.T792S Substitution - Missense Liver COSM52881 PBRM1 c.2764G>T p.E922* Substitution - Nonsense Kidney COSM23019 MEN1 c.95C>G p.P32R Substitution - Missense Pancreas COSM5986594 SETD2 c.3084_3085insGG p.R1029fs*34 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5778374 KDM5C c.1867-5C>A p.? Unknown Breast COSM1664513 TDRD7 c.400G>T p.V134F Substitution - Missense Kidney COSM4960640 KDM6B c.1993G>A p.A665T Substitution - Missense Liver COSM1579909 CARM1 c.1355T>C p.I452T Substitution - Missense Central_nervous_system COSM3683235 PRMT10 c.2329G>A p.V777I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4589545 ATRX c.4377_4379delGGA p.E1464delE Deletion - In frame Large_intestine COSM5438215 TDRD7 c.3147G>T p.L1049L Substitution - coding silent Oesophagus COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Biliary_tract COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM37030 EZH2 c.1936T>C p.Y646H Substitution - Missense Bone COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41875 IDH2 c.419G>T p.R140L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM72902 TAF3 c.2117A>G p.K706R Substitution - Missense Ovary COSM107494 TRRAP c.2165C>T p.S722F Substitution - Missense Skin COSM145539 KDM2B c.1313A>G p.H438R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM149732 PRDM5 c.1234T>C p.L412L Substitution - coding silent Stomach COSM173042 MBD5 c.4158C>T p.G1386G Substitution - coding silent Central_nervous_system COSM234448 BRDT c.2523G>A p.R841R Substitution - coding silent Skin COSM233565 TET2 c.275G>A p.G92E Substitution - Missense Skin COSM240684 KMT2D c.9830G>A p.R3277H Substitution - Missense Prostate COSM254629 CREBBP c.3217C>T p.Q1073* Substitution - Nonsense Urinary_tract COSM263463 RSF1 c.3814C>T p.R1272* Substitution - Nonsense Large_intestine COSM273283 SMYD3 c.1086C>T p.C362C Substitution - coding silent Stomach COSM287413 KDM5A c.3710C>T p.P1237L Substitution - Missense Skin COSM319435 CHD6 c.1088C>T p.T363M Substitution - Missense Lung COSM306061 PHF6 c.821G>A p.R274Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM364789 EYA1 c.851C>A p.S284* Substitution - Nonsense Lung COSM379853 PRMT8 c.914A>G p.H305R Substitution - Missense Lung COSM397165 MBD5 c.2010C>T p.L670L Substitution - coding silent Lung COSM403352 EP400 c.6977G>T p.G2326V Substitution - Missense Lung COSM434564 CHD2 c.1948C>T p.Q650* Substitution - Nonsense Breast COSM442451 SP110 c.406C>A p.P136T Substitution - Missense Breast COSM459508 ARID2 c.595A>G p.I199V Substitution - Missense Urinary_tract COSM466401 KMT2A c.7203C>A p.T2401T Substitution - coding silent Kidney COSM488577 TAF1 c.2986C>T p.R996C Substitution - Missense Kidney COSM480420 PBRM1 c.1264C>T p.Q422* Substitution - Nonsense Kidney COSM954562 PRMT5 c.1697-2A>G p.? Unknown Endometrium COSM944340 PHC1 c.2385G>A p.A795A Substitution - coding silent Endometrium COSM1049134 BRPF1 c.2142C>T p.N714N Substitution - coding silent Prostate COSM755440 SMARCA1 c.1530G>T p.Q510H Substitution - Missense Lung COSM732499 SMARCA5 c.2736A>G p.Q912Q Substitution - coding silent Lung COSM723124 ASXL1 c.2071C>T p.L691L Substitution - coding silent Lung COSM907726 ARID1A c.4336C>T p.R1446* Substitution - Nonsense Pancreas COSM909998 DMAP1 c.820G>A p.A274T Substitution - Missense Endometrium COSM1034542 EP300 c.3377A>G p.N1126S Substitution - Missense Endometrium COSM1124819 ZMYM3 c.683C>T p.A228V Substitution - Missense Endometrium COSM1128704 KAT2A c.370A>G p.K124E Substitution - Missense Autonomic_ganglia COSM1239819 PHF12 c.2969_2970delTC p.L990fs*>15 Deletion - Frameshift Stomach COSM1228962 TET2 c.803C>T p.S268L Substitution - Missense Large_intestine COSM1209427 HDGF c.455G>T p.G152V Substitution - Missense Large_intestine COSM1155828 ASXL1 c.2548G>T p.E850* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1190558 SMC1A c.2470G>C p.E824Q Substitution - Missense Lung COSM1186276 DHX30 c.1189A>T p.I397F Substitution - Missense Lung COSM1193309 TBL1XR1 c.868A>G p.T290A Substitution - Missense Lung COSM1606741 PHC1 c.1165C>T p.Q389* Substitution - Nonsense Liver COSM1314715 SMARCA2 c.2812C>A p.L938I Substitution - Missense Urinary_tract COSM1299433 KMT2D c.8206G>A p.D2736N Substitution - Missense Urinary_tract COSM1291739 BAP1 c.1031A>G p.N344S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1329954 KMT2C c.13895-1G>C p.? Unknown Ovary COSM1316314 BAZ1B c.2917A>T p.T973S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1372741 INOC1 c.1786C>T p.L596L Substitution - coding silent Large_intestine COSM1406113 SP140_ENST00000392045 c.1581C>T p.D527D Substitution - coding silent Large_intestine COSM1413027 DIDO1 c.1681C>T p.P561S Substitution - Missense Large_intestine COSM1341430 ARID1A c.6415delC p.F2141fs*59 Deletion - Frameshift Large_intestine COSM1341434 ARID1A c.6612C>G p.A2204A Substitution - coding silent Large_intestine COSM1492838 ATF7IP c.2941+2T>C p.? Unknown Kidney COSM1586688 CHD4 c.2212C>T p.R738C Substitution - Missense Endometrium COSM1582157 CHD4 c.4698A>G p.I1566M Substitution - Missense Stomach COSM1626411 SETDB1 c.3632A>T p.D1211V Substitution - Missense Liver COSM1622394 TIF1 c.329C>T p.S110L Substitution - Missense Liver COSM1630690 DNMT1 c.552T>C p.S184S Substitution - coding silent Liver COSM1631371 BAZ2B c.3747A>T p.E1249D Substitution - Missense Liver COSM1639830 EYA3 c.33+4_33+7delAGTA p.? Unknown Stomach COSM1704976 CHD4 c.772C>T p.R258C Substitution - Missense Skin COSM1723061 DIDO1 c.4927_4928insC p.R1643fs*37 Insertion - Frameshift Large_intestine COSM1729105 CHD9 c.2159A>T p.Y720F Substitution - Missense Liver COSM1724992 ASXL1 c.2253_2254insG p.A752fs*22 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2265205 ZMYM2 c.1328T>C p.M443T Substitution - Missense Large_intestine COSM2747627 DOT1L c.2721C>T p.P907P Substitution - coding silent Skin COSM2866806 TRRAP c.9100C>T p.R3034W Substitution - Missense Large_intestine COSM3069715 DHX30 c.1586G>A p.G529D Substitution - Missense Large_intestine COSM3294353 NCOA5 c.8C>T p.T3M Substitution - Missense Large_intestine COSM3290869 ACTR5 c.1234T>A p.F412I Substitution - Missense Large_intestine COSM3501422 TP53BP1 c.3729C>T p.I1243I Substitution - coding silent Skin COSM3488215 PRDM16 c.1374C>T p.A458A Substitution - coding silent Skin COSM3501097 MGA c.925C>T p.P309S Substitution - Missense Skin COSM3422186 SETBP1 c.4392C>T p.F1464F Substitution - coding silent Breast COSM3596038 BAP1 c.1246C>T p.L416F Substitution - Missense Skin COSM3514772 RAI1 c.4272C>T p.F1424F Substitution - coding silent Skin COSM3511210 PRMT7 c.69C>T p.H23H Substitution - coding silent Skin COSM3730217 SETBP1 c.2722G>A p.D908N Substitution - Missense Central_nervous_system COSM3711800 INOC1 c.250A>G p.T84A Substitution - Missense Upper_aerodigestive_tract COSM3762397 TRIM24 c.2589A>G p.G863G Substitution - coding silent Soft_tissue COSM3767043 ZMYM3 c.1068C>T p.C356C Substitution - coding silent Liver COSM3784085 BAZ1B c.3880G>T p.V1294F Substitution - Missense Prostate COSM3869155 ALKBH3 c.605C>T p.P202L Substitution - Missense Skin COSM3862515 PRDM2 c.2090C>T p.T697I Substitution - Missense Skin COSM3824313 PHF7 c.850G>C p.D284H Substitution - Missense Breast COSM3915322 MECOM c.1258G>A p.D420N Substitution - Missense Skin COSM3926255 SET c.537G>A p.R179R Substitution - coding silent Skin COSM3916580 ATXN7 c.1062C>T p.T354T Substitution - coding silent Skin COSM3875666 PHIP c.4706G>A p.G1569D Substitution - Missense Stomach COSM3874539 TDRD6 c.5568A>G p.L1856L Substitution - coding silent Stomach COSM3947394 PRDM9 c.1131C>A p.L377L Substitution - coding silent Lung COSM3983138 MTA1 c.780G>A p.K260K Substitution - coding silent Ovary COSM4028650 LBR c.1555A>G p.K519E Substitution - Missense Stomach COSM4018312 KMT2A c.5000C>T p.A1667V Substitution - Missense Stomach COSM4081180 TFPT c.31G>A p.A11T Substitution - Missense Stomach COSM4093219 NCOA1 c.3404T>A p.M1135K Substitution - Missense Stomach COSM4152453 SETD2 c.4882C>T p.Q1628* Substitution - Nonsense Kidney COSM4153870 TRIM24 c.833T>A p.M278K Substitution - Missense Ovary COSM4171650 KMT2C c.389+2T>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4388871 BAZ1B c.3247C>T p.R1083W Substitution - Missense Pancreas COSM4383788 TET2 c.1249C>T p.Q417* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4387422 BAP1 c.125_145del21 p.P42_F48del Deletion - In frame Eye COSM4406745 KDM4B c.2484C>T p.R828R Substitution - coding silent Pancreas COSM4443079 TRRAP c.8378C>A p.P2793H Substitution - Missense Large_intestine COSM4433491 TDRD6 c.3087A>G p.L1029L Substitution - coding silent Oesophagus COSM4438873 CHD7 c.7080G>A p.K2360K Substitution - coding silent Oesophagus COSM4537420 EP400 c.2417G>C p.R806T Substitution - Missense Skin COSM4546322 SUV420H2 c.397G>A p.E133K Substitution - Missense Skin COSM4504039 KDM4C c.588C>T p.L196L Substitution - coding silent Skin COSM4583683 KDM3A c.1630C>T p.P544S Substitution - Missense Bone COSM4457383 RTF1 c.667C>T p.P223S Substitution - Missense Skin COSM4468161 KMT2D c.1529C>T p.S510L Substitution - Missense Skin COSM4472389 LBR c.177C>T p.S59S Substitution - coding silent Skin COSM4448058 BAHCC1 c.1383C>G p.L461L Substitution - coding silent Skin COSM4725903 SHPRH c.4476G>A p.S1492S Substitution - coding silent Large_intestine COSM4663884 ASXL1 c.930C>T p.N310N Substitution - coding silent Large_intestine COSM4765567 ZBTB4 c.12_13insC p.A5fs*18 Insertion - Frameshift Stomach COSM4703486 MTA1 c.1459C>T p.R487C Substitution - Missense Large_intestine COSM4689742 HDGFL1 c.537G>A p.A179A Substitution - coding silent Large_intestine COSM4635717 EHMT1 c.3575G>A p.R1192Q Substitution - Missense Large_intestine COSM4753610 MYST3 c.4833C>A p.S1611R Substitution - Missense Stomach COSM4799449 ATF7IP c.1365A>G p.T455T Substitution - coding silent Liver COSM4805933 HDAC2 c.754A>T p.M252L Substitution - Missense Liver COSM4792960 PHF21B c.445G>A p.A149T Substitution - Missense Liver COSM4923692 PHF6 c.675A>G p.R225R Substitution - coding silent Liver COSM4827226 TRRAP c.11236C>A p.R3746R Substitution - coding silent Cervix COSM4877394 KMT2D c.6569G>T p.R2190L Substitution - Missense Prostate COSM4874266 CHD4 c.2907G>C p.K969N Substitution - Missense Endometrium COSM4951195 ARID1A c.5509_5510insT p.D1838fs*1 Insertion - Frameshift Liver COSM4990228 ARID2 c.5476G>A p.E1826K Substitution - Missense Skin COSM4984989 HNF1A c.1460G>A p.S487N Substitution - Missense Liver COSM5029668 SMC1A c.3410C>A p.A1137D Substitution - Missense Bone COSM5028962 BRWD3 c.430+1G>A p.? Unknown Breast COSM5025242 ZMYM1 c.1241A>T p.Q414L Substitution - Missense Breast COSM5057311 CHD6 c.6598A>G p.T2200A Substitution - Missense Stomach COSM5068427 CDYL c.1167G>T p.L389L Substitution - coding silent Large_intestine COSM5347107 ARID1A c.5906C>T p.T1969I Substitution - Missense Endometrium COSM5347135 ARID1A c.4144A>T p.K1382* Substitution - Nonsense Endometrium COSM5347993 SETDB1 c.120delT p.R41fs*21 Deletion - Frameshift Liver COSM5406227 PHF14 c.963T>G p.I321M Substitution - Missense Skin COSM5366755 RBBP7 c.1073_1081delCAGAAGATG p.A358_D360delAED Deletion - In frame Large_intestine COSM5356580 BRD9 c.38T>C p.F13S Substitution - Missense Large_intestine COSM5498437 HDAC10 c.1001C>T p.A334V Substitution - Missense Biliary_tract COSM5475562 KDM2A c.1681G>A p.V561M Substitution - Missense Large_intestine COSM5477567 PRDM2 c.4823C>T p.S1608L Substitution - Missense Large_intestine COSM5470616 SMYD4 c.924G>A p.P308P Substitution - coding silent Large_intestine COSM5428938 NIPBL c.2133T>C p.P711P Substitution - coding silent Oesophagus COSM5449225 DOT1L c.2941C>T p.R981C Substitution - Missense Large_intestine COSM5575970 SETD2 c.2800T>C p.S934P Substitution - Missense Stomach COSM5627109 EP300 c.1943G>T p.R648L Substitution - Missense Oesophagus COSM5654072 TDRD6 c.5614G>T p.V1872L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5737333 PHF15 c.1483G>A p.A495T Substitution - Missense Small_intestine COSM5768778 PHF12 c.1485C>A p.S495S Substitution - coding silent Breast COSM5610620 SMARCA4 c.787C>T p.P263S Substitution - Missense Skin COSM5561989 EP400 c.7505C>T p.P2502L Substitution - Missense Prostate COSM5571848 PHIP c.2285T>A p.V762D Substitution - Missense Prostate COSM5878876 DNMT3A c.742C>T p.Q248* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5946904 KMT2D c.9211C>T p.Q3071* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5887164 MSL3 c.860C>T p.S287L Substitution - Missense Skin COSM5941334 KAT5 c.1507-1G>A p.? Unknown Skin COSM5940236 BAZ2A c.5794G>A p.E1932K Substitution - Missense Skin COSM5967148 ARID1A c.3446C>G p.S1149* Substitution - Nonsense Salivary_gland COSM5964200 DIDO1 c.5562G>A p.E1854E Substitution - coding silent Breast COSM5954602 SMCHD1 c.3881_3882insT p.R1295fs*1 Insertion - Frameshift Upper_aerodigestive_tract COSM5996701 ARID1B c.2763G>A p.T921T Substitution - coding silent Prostate COSM6017780 TRIM28 c.2307C>T p.F769F Substitution - coding silent Skin COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM34201 MSH6 c.? p.? Unknown Endometrium COSM4169291 ARID1A c.? p.Q172* Substitution - Nonsense Biliary_tract COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM43350 IDH1 c.1_1245del1245 p.0? Whole gene deletion Central_nervous_system COSM166348 DNMT3A c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41709 TET2 c.4317_4318insA p.R1440fs*38 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1716805 TET2 c.? p.T1726fs*20 Frameshift Haematopoietic_and_lymphoid_tissue COSM3738471 TET2 c.? p.R1366L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM42027 TET2 c.3340_3341insA p.T1114fs*16 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM87117 TET2 c.3409+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5900900 TDRD6 c.6225G>A p.W2075* Substitution - Nonsense Skin COSM1666858 ARID1A c.? p.W337* Substitution - Nonsense Urinary_tract COSM4795530 RAG2 c.401C>T p.P134L Substitution - Missense Liver COSM1625904 KDM6A c.3737-2A>G p.? Unknown Liver COSM21481 HNF1A c.872_873insC p.G292fs*25 Insertion - Frameshift Liver COSM896937 ASH1L c.2491C>T p.P831S Substitution - Missense Endometrium COSM21481 HNF1A c.872_873insC p.G292fs*25 Insertion - Frameshift Liver COSM5701952 PRDM12 c.435_436GG>AT p.V146L Substitution - Missense Soft_tissue COSM488573 TAF1 c.1566T>C p.S522S Substitution - coding silent Kidney COSM1360401 ATF7IP c.3259C>T p.R1087W Substitution - Missense Large_intestine COSM5752274 DNMT3A c.851_855+2delACGAGGT p.? Unknown Breast COSM5794981 BAHD1 c.142C>T p.L48F Substitution - Missense Breast COSM307761 TET2 c.? p.L1151P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5706868 MUM1 c.478A>T p.S160C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3142261 CHD1 c.4025T>C p.M1342T Substitution - Missense Large_intestine COSM253852 TAF1 c.339C>T p.I113I Substitution - coding silent Urinary_tract COSM5897090 SETD3 c.199C>T p.L67L Substitution - coding silent Skin COSM146261 ASXL1 c.2058_2059delGT p.C687fs*30 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM435383 CHD9 c.3223A>C p.K1075Q Substitution - Missense Breast COSM1425736 SETD5_ENST00000402198 c.900G>A p.E300E Substitution - coding silent Large_intestine COSM3349881 PHF1 c.9_10insC p.R6fs*38 Insertion - Frameshift Breast COSM1022756 SMYD5 c.762G>T p.E254D Substitution - Missense Endometrium COSM1726091 ARID4A c.3124G>T p.E1042* Substitution - Nonsense Liver COSM3874541 TDRD6 c.5949A>T p.K1983N Substitution - Missense Stomach COSM5037362 TRIM33 c.1339T>A p.C447S Substitution - Missense Oesophagus COSM3940411 FXR1 c.143G>T p.R48I Substitution - Missense Oesophagus COSM4935773 BRPF1 c.200A>C p.Q67P Substitution - Missense Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM147860 MTA1 c.1114G>A p.V372I Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5364117 ZBTB4 c.2170C>T p.R724W Substitution - Missense Large_intestine COSM4170334 PHF21A c.153+2T>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4393030 BAHD1 c.1757G>A p.R586H Substitution - Missense Prostate COSM5548462 GTF3C1 c.3566C>T p.A1189V Substitution - Missense Prostate COSM5587488 CHD7 c.1453C>T p.L485F Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1472590 SETDB1 c.3176G>A p.R1059Q Substitution - Missense Endometrium COSM162504 KMT2C c.3572C>A p.T1191K Substitution - Missense Breast COSM3368524 KDM2A c.1607C>T p.P536L Substitution - Missense Thyroid COSM254634 CREBBP c.3779+1G>T p.? Unknown Urinary_tract COSM5406433 SND1 c.163C>T p.R55C Substitution - Missense Skin COSM1067094 PRDM9 c.2496T>C p.Y832Y Substitution - coding silent Large_intestine COSM473492 CHD3 c.3126C>T p.S1042S Substitution - coding silent Kidney COSM1629532 RTF1 c.538C>G p.P180A Substitution - Missense Liver COSM1679027 SETD1A c.4651G>A p.A1551T Substitution - Missense Central_nervous_system COSM5987614 YY1 c.985G>C p.E329Q Substitution - Missense Salivary_gland COSM128137 HCFC1 c.1491C>T p.A497A Substitution - coding silent Upper_aerodigestive_tract COSM3417162 APOBEC1 c.183C>T p.H61H Substitution - coding silent Large_intestine COSM908625 ZMYM6 c.1097C>T p.S366L Substitution - Missense Skin COSM41292 IDH1 c.? p.R132G Substitution - Missense Bone COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4971581 EHMT2 c.786G>T p.W262C Substitution - Missense Central_nervous_system COSM3827987 NIPBL c.792G>A p.M264I Substitution - Missense Breast COSM292408 GTF3C4 c.1560G>A p.E520E Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4098449 CHD6 c.5714A>G p.N1905S Substitution - Missense Stomach COSM166346 DNMT3A c.? p.?fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM214450 MPHOSPH8 c.2365_2382del18 p.F789_V794delFLGKEV Deletion - In frame Breast COSM470615 MGA c.5174C>G p.P1725R Substitution - Missense Kidney COSM3702785 NSD1 c.1495G>C p.A499P Substitution - Missense Liver COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Large_intestine COSM5772351 MYST2 c.1A>G p.M1V Substitution - Missense Breast COSM328290 RAG2 c.22G>A p.V8I Substitution - Missense Pancreas COSM1666862 ARID1A c.? p.? Unknown Endometrium COSM908996 MEAF6 c.511C>T p.R171* Substitution - Nonsense Endometrium COSM750803 NCOA2 c.1151C>T p.P384L Substitution - Missense Skin COSM5945125 EZH2 c.796G>A p.G266R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4568246 SUZ12 c.1047T>A p.F349L Substitution - Missense Skin COSM1453164 TRRAP c.3930G>T p.E1310D Substitution - Missense Large_intestine COSM5885263 ARID1A c.? p.P885L Substitution - Missense Breast COSM1162880 PRDM16 c.3208G>A p.D1070N Substitution - Missense Skin COSM5990554 NCOA3 c.3947-10delT p.? Unknown Liver COSM5363732 CREBBP c.4504T>C p.W1502R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1184384 KMT2C c.3922T>C p.S1308P Substitution - Missense Thymus COSM3950031 JHDM1D c.2082C>T p.S694S Substitution - coding silent Lung COSM3069037 SETD2 c.2710delA p.R904fs*5 Deletion - Frameshift Large_intestine COSM3939173 PCGF1 c.559G>A p.E187K Substitution - Missense Cervix COSM3194783 AKAP1 c.2182_2183delCA p.H730fs*70 Deletion - Frameshift Large_intestine COSM1375552 CHD2 c.3725delA p.K1245fs*4 Deletion - Frameshift Stomach COSM1124866 TAF1 c.458G>T p.C153F Substitution - Missense Endometrium COSM5031429 SMYD2 c.115T>A p.Y39N Substitution - Missense Pancreas COSM1054431 WHSC1 c.1502G>A p.R501H Substitution - Missense Endometrium COSM4493290 SMYD2 c.412C>T p.L138L Substitution - coding silent Skin COSM3631654 MLL5 c.1764T>C p.F588F Substitution - coding silent Skin COSM1169693 TET2 c.? p.V1454fs*4 Frameshift Haematopoietic_and_lymphoid_tissue COSM5493137 CHD8 c.3322delA p.I1108fs*2 Deletion - Frameshift Biliary_tract COSM3291624 CHD6 c.8066G>A p.S2689N Substitution - Missense Large_intestine COSM2687952 NIPBL c.4930G>A p.G1644R Substitution - Missense Large_intestine COSM4774847 EP300 c.5358_5359insA p.A1787fs*96 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3874520 TDRD6 c.1746C>T p.D582D Substitution - coding silent Large_intestine COSM1205370 EP300 c.1651C>T p.P551S Substitution - Missense Large_intestine COSM4850218 INTS12 c.917C>G p.S306* Substitution - Nonsense Cervix COSM5891967 ACTB c.141G>A p.M47I Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM350037 PRDM16 c.939G>T p.Q313H Substitution - Missense Lung COSM1436255 NSD1 c.709delA p.N238fs*23 Deletion - Frameshift Large_intestine COSM4144893 TAF3 c.2745G>A p.K915K Substitution - coding silent Thyroid COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3861639 TCF19 c.865G>A p.G289R Substitution - Missense Stomach COSM895855 POGZ c.13G>A p.D5N Substitution - Missense Endometrium COSM1307400 CHD6 c.5992G>C p.E1998Q Substitution - Missense Urinary_tract COSM5624219 KMT2A c.8136A>G p.P2712P Substitution - coding silent Oesophagus COSM3879982 HDAC9 c.1563C>T p.D521D Substitution - coding silent Stomach COSM4635972 KDM6B c.4599C>T p.F1533F Substitution - coding silent Large_intestine COSM1411123 DNMT3B c.1353delG p.L454fs*136 Deletion - Frameshift Large_intestine COSM5944256 TET2 c.1214_1217delTTCT p.S407fs*19 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5701148 INO80B c.722_723insG p.A244fs*75 Insertion - Frameshift Soft_tissue COSM3551337 AIRE c.972C>T p.S324S Substitution - coding silent Skin COSM3660039 UTY c.3659T>G p.L1220R Substitution - Missense Liver COSM4789805 DNMT3A c.312G>A p.G104G Substitution - coding silent Liver COSM473480 KDM6B c.2635G>T p.A879S Substitution - Missense Upper_aerodigestive_tract COSM302054 DIDO1 c.6228C>T p.H2076H Substitution - coding silent Central_nervous_system COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1315520 KDM6A c.3634C>T p.Q1212* Substitution - Nonsense Urinary_tract COSM3153189 EP300 c.4981C>T p.Q1661* Substitution - Nonsense Large_intestine COSM221122 KMT2D c.8836G>T p.E2946* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM219544 EP300 c.2957A>T p.Q986L Substitution - Missense Breast COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4003461 NSD1 c.6829T>C p.L2277L Substitution - coding silent Soft_tissue COSM5016519 CHD9 c.1077_1078insA p.N360fs*7 Insertion - Frameshift Kidney COSM5968223 KMT2C c.14114C>A p.P4705H Substitution - Missense Genital_tract COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3358457 SETD2 c.3824delT p.L1275fs*9 Deletion - Frameshift Kidney COSM5820873 TDRD1 c.1657T>A p.S553T Substitution - Missense Liver COSM1339910 ACTA1 c.911delG p.G304fs*24 Deletion - Frameshift Large_intestine COSM359478 KDM3A c.44G>T p.R15M Substitution - Missense Lung COSM4749937 SMARCA4 c.2788C>T p.P930S Substitution - Missense Stomach COSM5927061 ASXL1 c.4466C>T p.S1489F Substitution - Missense Skin COSM4996392 TET2 c.4773C>A p.S1591R Substitution - Missense Upper_aerodigestive_tract COSM4753614 MYST3 c.1139A>C p.E380A Substitution - Missense Stomach COSM333176 DIDO1 c.250C>T p.R84C Substitution - Missense Lung COSM221166 KMT2D c.13976delC p.P4659fs*66 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1465246 ZBTB33 c.563_564insTGA p.D194_V195insD Insertion - In frame Upper_aerodigestive_tract COSM4911456 EYA2 c.624T>C p.S208S Substitution - coding silent Liver COSM3429111 HDAC3 c.477-1G>T p.? Unknown Large_intestine COSM86979 IKZF1 c.41-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5746796 SND1 c.284T>C p.V95A Substitution - Missense Pancreas COSM1559931 LMNA c.1487C>T p.T496M Substitution - Missense Large_intestine COSM3772694 BAZ2A c.1444T>C p.S482P Substitution - Missense Pancreas COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3952653 TAF1L c.3151A>T p.M1051L Substitution - Missense Lung COSM4603246 RNF134 c.84_85insGCCTCC p.P28_V29insAS Insertion - In frame Upper_aerodigestive_tract COSM5226879 ARID1A c.3458delC p.M1154fs*7 Deletion - Frameshift Breast COSM4593173 CBX4 c.691A>C p.N231H Substitution - Missense Upper_aerodigestive_tract COSM3547199 NCOA5 c.963C>T p.I321I Substitution - coding silent Skin COSM3291747 CHD6 c.848C>T p.A283V Substitution - Missense Stomach COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4010589 BRDT c.1014G>A p.A338A Substitution - coding silent Stomach COSM4593173 CBX4 c.691A>C p.N231H Substitution - Missense Upper_aerodigestive_tract COSM1123266 PHF8 c.2365G>A p.E789K Substitution - Missense Endometrium COSM730682 DHX30 c.519T>G p.I173M Substitution - Missense Lung COSM3615209 PRDM9 c.1288C>T p.P430S Substitution - Missense Skin COSM3745209 BRPF3 c.1063C>T p.R355W Substitution - Missense Liver COSM244329 EYA1 c.1702G>A p.A568T Substitution - Missense Large_intestine COSM3934113 PYGO2 c.486T>C p.F162F Substitution - coding silent Oesophagus COSM3010223 PHF17 c.260C>A p.P87H Substitution - Missense Oesophagus COSM3361052 BRDT c.1131G>A p.P377P Substitution - coding silent Kidney COSM2068739 HDAC7 c.2082G>A p.Q694Q Substitution - coding silent Large_intestine COSM3127191 PRMT10 c.739G>A p.E247K Substitution - Missense Large_intestine COSM5604960 SMYD2 c.407C>T p.S136L Substitution - Missense Skin COSM5002541 BRD8 c.1033G>T p.V345L Substitution - Missense Pancreas COSM6001208 SETD3 c.116C>T p.P39L Substitution - Missense Prostate COSM4729938 SRCAP c.4284C>T p.S1428S Substitution - coding silent Large_intestine COSM5458196 TRIM33 c.1213C>A p.L405I Substitution - Missense Large_intestine COSM273229 SETD1A c.967G>A p.A323T Substitution - Missense Large_intestine COSM1723750 TP53BP1 c.4667-6C>T p.? Unknown Skin COSM5447519 SMYD1 c.138-7T>G p.? Unknown Large_intestine COSM3727938 ATXN7 c.359G>A p.G120E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3291653 CHD6 c.6104G>C p.R2035T Substitution - Missense Large_intestine COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3694725 BRWD3 c.3593G>A p.R1198H Substitution - Missense Large_intestine COSM144496 IDH2 c.? p.R172S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1640982 SETBP1 c.1890G>A p.A630A Substitution - coding silent Stomach COSM1756894 ARID4A c.3212G>T p.G1071V Substitution - Missense Urinary_tract COSM955473 BAZ1A c.869A>G p.N290S Substitution - Missense Endometrium COSM970578 CREBBP c.3956G>A p.R1319Q Substitution - Missense Endometrium COSM5806936 ACTL6A c.667A>T p.I223F Substitution - Missense Liver COSM5355331 DHX30 c.2126C>A p.P709H Substitution - Missense Large_intestine COSM4650376 CREBBP c.6709C>A p.P2237T Substitution - Missense Large_intestine COSM2819149 PRDM15 c.723_724delTG p.C241fs*1 Deletion - Frameshift Large_intestine COSM4795043 JMJD1C c.5802G>A p.K1934K Substitution - coding silent Liver COSM1367545 TDRD3 c.1209_1210insA p.R406fs*3 Insertion - Frameshift Large_intestine COSM4950506 ATXN7 c.787C>A p.P263T Substitution - Missense Liver COSM3460969 ARID2 c.2173C>T p.Q725* Substitution - Nonsense Skin COSM1740296 PRDM7 c.472G>T p.E158* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4801866 SP140_ENST00000392045 c.1008T>C p.D336D Substitution - coding silent Liver COSM2697272 CBX1 c.354G>A p.E118E Substitution - coding silent Large_intestine COSM4983976 SP140_ENST00000392045 c.1075G>T p.E359* Substitution - Nonsense Oesophagus COSM4049843 CHD8 c.5979T>G p.T1993T Substitution - coding silent Stomach COSM5447879 ZBTB33 c.174T>C p.H58H Substitution - coding silent Large_intestine COSM4136101 BAZ2B c.5880C>A p.C1960* Substitution - Nonsense Ovary COSM725159 BRWD1 c.6010G>A p.E2004K Substitution - Missense Lung COSM478052 NCOA6 c.2809C>T p.P937S Substitution - Missense Kidney COSM5361414 CHD4 c.1857C>T p.P619P Substitution - coding silent Large_intestine COSM4968068 ATRX c.6757G>T p.E2253* Substitution - Nonsense Adrenal_gland COSM5611993 MBD5 c.904A>G p.T302A Substitution - Missense Adrenal_gland COSM206618 HCFC1 c.5268G>A p.K1756K Substitution - coding silent Soft_tissue COSM5560794 NCOA6 c.5418C>T p.N1806N Substitution - coding silent Prostate COSM5019273 PRDM1 c.2034G>A p.P678P Substitution - coding silent Thyroid COSM4548357 NCOA6 c.4456G>A p.E1486K Substitution - Missense Skin COSM43426 TET2 c.4977T>G p.Y1659* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5027981 PYGO1 c.594C>T p.P198P Substitution - coding silent Breast COSM2208067 GATAD2B c.1077G>A p.Q359Q Substitution - coding silent Large_intestine COSM5645828 KMT2D c.14530C>T p.H4844Y Substitution - Missense Oesophagus COSM4695855 KIAA2026_ENST00000399933 c.2768C>T p.P923L Substitution - Missense Large_intestine COSM3967790 SUV420H1 c.2541C>T p.D847D Substitution - coding silent Central_nervous_system COSM1495072 NCOA5 c.1297G>A p.A433T Substitution - Missense Kidney COSM1735109 BPTF c.7042delC p.Q2348fs*63 Deletion - Frameshift Pancreas COSM5998104 ASH2L c.916G>T p.G306W Substitution - Missense Prostate COSM4663217 ARID1A c.1620G>A p.T540T Substitution - coding silent Large_intestine COSM5557701 LMNA c.465G>T p.K155N Substitution - Missense Prostate COSM247698 TAF1L c.2777C>G p.S926C Substitution - Missense Prostate COSM921714 HELLS c.536C>T p.S179L Substitution - Missense Endometrium COSM203096 ATAD2 c.354delA p.E119fs*8 Deletion - Frameshift Stomach COSM1369647 BAZ1A c.4054C>T p.L1352F Substitution - Missense Large_intestine COSM5363377 SRCAP c.5649T>G p.P1883P Substitution - coding silent Large_intestine COSM288071 SRCAP c.7332A>G p.R2444R Substitution - coding silent Large_intestine COSM4625105 SETD2 c.6071C>A p.P2024H Substitution - Missense Large_intestine COSM41884 TET2 c.? p.C1875R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1369108 PRMT5 c.856T>C p.Y286H Substitution - Missense Large_intestine COSM1388389 AP001011.3_ENST00000320876 c.4706C>T p.S1569L Substitution - Missense Large_intestine COSM5503606 EPC1 c.1158G>T p.L386F Substitution - Missense Biliary_tract COSM444569 AIRE c.1197T>C p.A399A Substitution - coding silent Large_intestine COSM989 SMARCB1 c.1130G>A p.R377H Substitution - Missense Meninges COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1311839 KDM1B c.1242G>A p.K414K Substitution - coding silent Urinary_tract COSM673747 PHF16 c.47-9C>G p.? Unknown Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1189547 BPTF c.3785A>G p.N1262S Substitution - Missense Lung COSM1283598 ATRX c.6563G>A p.R2188Q Substitution - Missense Autonomic_ganglia COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM180427 BRPF1 c.196C>T p.R66C Substitution - Missense Stomach COSM4618024 NCOA6 c.5868C>A p.S1956S Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM180427 BRPF1 c.196C>T p.R66C Substitution - Missense Large_intestine COSM182514 ZMYM2 c.3225C>T p.G1075G Substitution - coding silent Stomach COSM1627634 KAT6B c.2016C>T p.I672I Substitution - coding silent Liver COSM5360490 KDM4D c.28T>G p.C10G Substitution - Missense Large_intestine COSM4728353 SMARCD2 c.1261C>T p.R421* Substitution - Nonsense Large_intestine COSM4570483 TDRD1 c.2779T>C p.S927P Substitution - Missense Skin COSM3979781 SETDB1 c.1727A>T p.H576L Substitution - Missense Ovary COSM5825560 ARID1A c.4813C>G p.P1605A Substitution - Missense Pancreas COSM4911024 TAF1 c.712-1G>T p.? Unknown Liver COSM3502554 PYGO1 c.710C>T p.P237L Substitution - Missense Skin COSM5511154 ASXL1 c.643G>A p.A215T Substitution - Missense Biliary_tract COSM4491496 PRDM15 c.3816C>G p.S1272S Substitution - coding silent Skin COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5609082 HNF1A c.770A>G p.N257S Substitution - Missense Skin COSM4693851 JMJD1C c.469_470insT p.S157fs*2 Insertion - Frameshift Large_intestine COSM1088622 STK31 c.630G>A p.E210E Substitution - coding silent Endometrium COSM923598 KMT2A c.8836C>T p.P2946S Substitution - Missense Endometrium COSM6008949 KMT2D c.9688G>T p.G3230* Substitution - Nonsense Large_intestine COSM940084 KMT2D c.2459C>T p.P820L Substitution - Missense Endometrium COSM1302080 SETD6 c.1164G>C p.W388C Substitution - Missense Urinary_tract COSM1416629 TCF20 c.739_740insCCT p.S246_F247insS Insertion - In frame Large_intestine COSM5579312 PHF8 c.2715G>A p.Q905Q Substitution - coding silent Skin COSM4758886 BTAF1 c.5480G>T p.S1827I Substitution - Missense Stomach COSM1359362 SIRT4 c.533delG p.V180fs*9 Deletion - Frameshift Large_intestine COSM3919889 PRDM9 c.844G>A p.E282K Substitution - Missense Skin COSM4615445 POGZ c.3351delA p.L1117fs*5 Deletion - Frameshift Large_intestine COSM5367342 MECP2 c.942C>T p.I314I Substitution - coding silent Large_intestine COSM1079908 TDRD6 c.4235C>T p.P1412L Substitution - Missense Endometrium COSM5985656 ARID1A c.? p.Q1250* Substitution - Nonsense Stomach COSM3853986 NSD1 c.7402C>T p.R2468W Substitution - Missense Stomach COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Endometrium COSM5012577 BAZ2A_ENST00000379441 c.3834C>A p.S1278R Substitution - Missense Kidney COSM4685171 FMR1 c.966T>C p.N322N Substitution - coding silent Large_intestine COSM3781325 HDAC9 c.1947C>T p.C649C Substitution - coding silent Pancreas COSM301378 MTA2 c.479G>A p.R160H Substitution - Missense Large_intestine COSM5940558 TP53BP1 c.1120C>T p.P374S Substitution - Missense Skin COSM1167991 ARID2 c.890C>T p.S297F Substitution - Missense Skin COSM675861 TDRD10 c.173A>G p.N58S Substitution - Missense Lung COSM3374505 TIF1 c.1898C>T p.S633F Substitution - Missense Thyroid COSM991 SMARCB1 c.141C>A p.Y47* Substitution - Nonsense Soft_tissue COSM23011 MEN1 c.1361_1362delAG p.K454fs*76 Deletion - Frameshift Parathyroid COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM22639 MEN1 c.794delG p.W265fs*16 Deletion - Frameshift Gastrointestinal_tract_(site_indeterminate) COSM43423 TET2 c.942_945delTTCC p.S315fs*31 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85917 TET2 c.2227C>T p.Q743* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM72940 TDRKH c.65G>T p.G22V Substitution - Missense Ovary COSM108511 TDRD3 c.1462A>G p.N488D Substitution - Missense Skin COSM122020 TDG c.387C>A p.T129T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM130413 ARID1A c.2830C>T p.Q944* Substitution - Nonsense Liver COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Central_nervous_system COSM179064 CDYL c.1290C>T p.F430F Substitution - coding silent Large_intestine COSM185057 SRCAP c.2402G>A p.R801H Substitution - Missense Cervix COSM211624 TET2 c.4392C>A p.C1464* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM203717 PRDM10 c.2549G>A p.R850Q Substitution - Missense Endometrium COSM219343 SFMBT2 c.1922G>C p.S641T Substitution - Missense Breast COSM215865 EP300 c.6633C>A p.F2211L Substitution - Missense Central_nervous_system COSM225830 TDRD5 c.1579C>T p.Q527* Substitution - Nonsense Skin COSM248902 TRRAP c.2446C>T p.R816W Substitution - Missense Large_intestine COSM254573 BTAF1 c.4850C>G p.S1617* Substitution - Nonsense Urinary_tract COSM255188 PHF6 c.27_28insA p.G10fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM302119 EHMT1 c.2182+1G>A p.? Unknown Central_nervous_system COSM291735 CREBBP c.5039_5041delCCT p.S1680delS Deletion - In frame Soft_tissue COSM345462 TBL1XR1 c.161A>T p.Q54L Substitution - Missense Lung COSM419980 SETD2 c.430G>A p.D144N Substitution - Missense Urinary_tract COSM426746 RERE c.2475G>A p.P825P Substitution - coding silent Thyroid COSM483226 PRDM1 c.1459G>A p.A487T Substitution - Missense Kidney COSM481151 WHSC1 c.3932C>T p.T1311I Substitution - Missense Kidney COSM480306 PBRM1 c.4284T>G p.Y1428* Substitution - Nonsense Kidney COSM675749 ASH1L c.3326C>A p.S1109Y Substitution - Missense Lung COSM941557 SMARCC2 c.1861A>C p.N621H Substitution - Missense Endometrium COSM1017584 SP110 c.1132G>T p.A378S Substitution - Missense Endometrium COSM940296 SMARCD1 c.431G>T p.R144L Substitution - Missense Endometrium COSM747170 BAZ1B c.1327A>G p.M443V Substitution - Missense Lung COSM754404 KIAA2026_ENST00000399933 c.4485G>A p.A1495A Substitution - coding silent Endometrium COSM697531 CHD8 c.1717-1G>A p.? Unknown Lung COSM723106 DNMT3B c.1040G>A p.G347D Substitution - Missense Lung COSM1071000 BRD9 c.1292C>T p.T431M Substitution - Missense Endometrium COSM1075361 ARID1B c.5577C>T p.I1859I Substitution - coding silent Endometrium COSM1081854 PHIP c.3733A>G p.I1245V Substitution - Missense Endometrium COSM1084552 ING3 c.1027C>T p.P343S Substitution - Missense Endometrium COSM1251259 EPC1 c.1484A>G p.N495S Substitution - Missense Oesophagus COSM1195233 CHD7 c.1406G>A p.R469K Substitution - Missense Lung COSM1162450 NCOA3 c.3313G>A p.D1105N Substitution - Missense Pancreas COSM1159261 PBRM1 c.2047delA p.I683fs*3 Deletion - Frameshift Pancreas COSM1172530 CBX2 c.1219G>A p.D407N Substitution - Missense Large_intestine COSM1606741 PHC1 c.1165C>T p.Q389* Substitution - Nonsense Upper_aerodigestive_tract COSM1606949 RNF17 c.935+6_935+9delTATT p.? Unknown Liver COSM1315701 ATRX c.3955C>G p.Q1319E Substitution - Missense Urinary_tract COSM1299458 KMT2D c.828C>T p.C276C Substitution - coding silent Urinary_tract COSM42029 TET2 c.3646C>T p.R1216* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1341841 RBBP4 c.1056G>T p.E352D Substitution - Missense Large_intestine COSM1357118 RSF1 c.3691C>T p.R1231* Substitution - Nonsense Large_intestine COSM1512055 KMT2D c.11782C>T p.R3928* Substitution - Nonsense Oesophagus COSM1476745 SMARCC2 c.253A>G p.K85E Substitution - Missense Breast COSM1615186 KDM3A c.99G>A p.W33* Substitution - Nonsense Liver COSM1618229 INTS12 c.667A>G p.T223A Substitution - Missense Liver COSM1682286 EP300 c.2405C>T p.P802L Substitution - Missense Kidney COSM1660381 ACTR6 c.814A>G p.N272D Substitution - Missense Kidney COSM1660806 BTAF1 c.5050G>A p.G1684S Substitution - Missense Kidney COSM1756574 KDM6A c.378C>T p.Y126Y Substitution - coding silent Urinary_tract COSM1756576 KDM6A c.3685C>T p.Q1229* Substitution - Nonsense Urinary_tract COSM2235546 ARID1A c.5585A>G p.K1862R Substitution - Missense Large_intestine COSM2828731 SETD5_ENST00000402198 c.267A>T p.V89V Substitution - coding silent Upper_aerodigestive_tract COSM3017616 SHPRH c.2321T>C p.V774A Substitution - Missense Stomach COSM3061819 TCF20 c.353A>G p.Y118C Substitution - Missense Large_intestine COSM3153146 EP300 c.3701_3702insA p.N1236fs*2 Insertion - Frameshift Large_intestine COSM3237359 KDM3B c.5014G>A p.A1672T Substitution - Missense Upper_aerodigestive_tract COSM3255746 PHF14 c.1046G>T p.G349V Substitution - Missense Large_intestine COSM3300271 BAZ2B c.2878C>T p.R960* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3296310 EPC2 c.2124A>G p.L708L Substitution - coding silent Kidney COSM3294832 ZMYND8 c.2934C>T p.I978I Substitution - coding silent Skin COSM3353136 TDRD6 c.5345A>C p.N1782T Substitution - Missense Large_intestine COSM3371028 AP001011.3_ENST00000320876 c.2862A>G p.L954L Substitution - coding silent Thyroid COSM3377300 RERE c.2026A>G p.R676G Substitution - Missense Pancreas COSM3374668 BAZ1B c.3804G>A p.E1268E Substitution - coding silent Thyroid COSM3411839 KMT2C c.1227T>C p.C409C Substitution - coding silent Central_nervous_system COSM3499056 UBR7 c.918C>G p.P306P Substitution - coding silent Skin COSM3447391 PRDM11 c.631G>A p.D211N Substitution - Missense Skin COSM3636553 KMT2C c.948C>T p.T316T Substitution - coding silent Skin COSM3608875 BRD8 c.3351G>A p.K1117K Substitution - coding silent Skin COSM3554881 EP300 c.1078G>A p.E360K Substitution - Missense Skin COSM3517618 KAT2A c.1011C>T p.F337F Substitution - coding silent Skin COSM3531885 LMNB2 c.962C>T p.A321V Substitution - Missense Skin COSM3661432 KDM3B c.3113T>G p.L1038R Substitution - Missense Liver COSM3857078 PRDM13 c.1835A>G p.D612G Substitution - Missense Stomach COSM3867355 ERCC6 c.628C>T p.H210Y Substitution - Missense Skin COSM3941605 ARID1B c.5358C>T p.D1786D Substitution - coding silent Oesophagus COSM3937637 KDM6B c.2222C>G p.A741G Substitution - Missense Oesophagus COSM3940102 TAF1 c.4693C>T p.R1565W Substitution - Missense Oesophagus COSM3933982 PRMT6 c.623T>G p.L208R Substitution - Missense Oesophagus COSM3844996 KDM5C c.3227T>C p.L1076P Substitution - Missense Breast COSM3820985 BAHCC1 c.6775C>T p.R2259W Substitution - Missense Breast COSM3875679 PHIP c.510T>C p.Y170Y Substitution - coding silent Stomach COSM3900851 CHD7 c.360C>T p.G120G Substitution - coding silent Stomach COSM3876907 MLL5 c.2743C>T p.R915W Substitution - Missense Stomach COSM4048186 TDRD3 c.1091C>T p.S364F Substitution - Missense Stomach COSM3985592 EPC1 c.2127T>C p.H709H Substitution - coding silent Kidney COSM4086885 ATF2 c.944T>A p.L315* Substitution - Nonsense Stomach COSM4098442 CHD6 c.6473C>T p.A2158V Substitution - Missense Stomach COSM4100213 DIDO1 c.792C>T p.Y264Y Substitution - coding silent Stomach COSM4077878 SIRT2 c.607G>A p.E203K Substitution - Missense Biliary_tract COSM4070361 CHD3 c.2317G>A p.V773I Substitution - Missense Stomach COSM4129609 NCOR1 c.568C>T p.R190* Substitution - Nonsense Upper_aerodigestive_tract COSM4385382 KDM6A c.2128C>T p.Q710* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4384312 KMT2C c.10493C>T p.T3498I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384600 KMT2A c.5414G>A p.W1805* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4406491 LMNB2 c.1107C>T p.N369N Substitution - coding silent Pancreas COSM4415179 TET2 c.3117G>A p.S1039S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4488365 SMARCC1 c.3313C>T p.P1105S Substitution - Missense Skin COSM4575114 KDM2B c.418G>C p.E140Q Substitution - Missense Bone COSM4593164 EP400 c.6637A>C p.T2213P Substitution - Missense Upper_aerodigestive_tract COSM4494916 SETD1A c.4427C>T p.P1476L Substitution - Missense Skin COSM4489486 ATF7IP c.3482C>T p.P1161L Substitution - Missense Skin COSM4521972 RBBP5 c.1138G>A p.V380M Substitution - Missense Skin COSM4592047 AKAP1 c.1597A>C p.T533P Substitution - Missense Upper_aerodigestive_tract COSM4511111 EYA1 c.858C>T p.P286P Substitution - coding silent Skin COSM4515352 CTCF c.1061_1062CC>TT p.S354F Substitution - Missense Skin COSM4422259 TRDMT1 c.120T>A p.N40K Substitution - Missense Ovary COSM4725141 SETD1A c.2713G>A p.E905K Substitution - Missense Large_intestine COSM4735994 TRIM24 c.3019_3020insA p.R1009fs*10 Insertion - Frameshift Large_intestine COSM4732670 TCF20 c.2672A>G p.D891G Substitution - Missense Large_intestine COSM4611890 SIRT4 c.631_632insA p.V212fs*30 Insertion - Frameshift Large_intestine COSM4652553 ALKBH1 c.14C>T p.A5V Substitution - Missense Large_intestine COSM4793909 SMARCC2 c.569G>A p.W190* Substitution - Nonsense Liver COSM4802926 ASXL3 c.322G>T p.A108S Substitution - Missense Liver COSM4887174 MBD3 c.164G>T p.G55V Substitution - Missense Upper_aerodigestive_tract COSM4944038 TBL1XR1 c.1058A>G p.N353S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4940593 PHF21B c.942C>T p.S314S Substitution - coding silent Liver COSM4941185 C20orf20 c.322C>A p.P108T Substitution - Missense Liver COSM4834365 SETD1A c.4506C>T p.I1502I Substitution - coding silent Cervix COSM4852696 SETD5_ENST00000402198 c.312C>T p.L104L Substitution - coding silent Skin COSM4844483 RBBP7 c.949G>A p.D317N Substitution - Missense Cervix COSM4848597 BAP1 c.1313C>G p.S438* Substitution - Nonsense Cervix COSM4855982 BRWD1 c.2372C>T p.S791L Substitution - Missense Cervix COSM4951382 KDM4C c.743C>G p.S248C Substitution - Missense Liver COSM4996362 BAP1 c.587G>T p.W196L Substitution - Missense Upper_aerodigestive_tract COSM4992837 TRIM24 c.2760G>C p.M920I Substitution - Missense Skin COSM4979634 WHSC1L1 c.1320C>T p.S440S Substitution - coding silent Oesophagus COSM4984309 BAHCC1 c.5807T>C p.V1936A Substitution - Missense Oesophagus COSM5032427 INO80B c.681G>C p.E227D Substitution - Missense Oesophagus COSM5031075 KDM6A c.3331_3331C>GGGGCGTAA p.R1111fs*3 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM5019699 HNF1A c.864G>C p.G288G Substitution - coding silent Soft_tissue COSM5347129 ARID1A c.1762C>T p.Q588* Substitution - Nonsense Endometrium COSM5357292 BAG6 c.2966G>A p.G989D Substitution - Missense Large_intestine COSM5502647 HDAC4 c.3193G>C p.G1065R Substitution - Missense Biliary_tract COSM5514506 MECOM c.2952G>A p.L984L Substitution - coding silent Biliary_tract COSM5470716 AKAP1 c.1371C>T p.H457H Substitution - coding silent Large_intestine COSM5447820 TDRD7 c.1505A>G p.Y502C Substitution - Missense Large_intestine COSM5454345 MGA c.7928C>T p.A2643V Substitution - Missense Large_intestine COSM5634627 CHD7 c.7989G>A p.A2663A Substitution - coding silent Oesophagus COSM5594014 ZBTB38 c.2909C>T p.P970L Substitution - Missense Skin COSM5602392 TAF1L c.3709G>A p.E1237K Substitution - Missense Skin COSM5715077 KMT2D c.12154C>T p.Q4052* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5695608 MSH6 c.529C>T p.Q177* Substitution - Nonsense Soft_tissue COSM5701799 KDM4C c.2669_2670GG>TT p.R890L Substitution - Missense Soft_tissue COSM5879936 KDM6A c.3304G>T p.E1102* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5879013 TET2 c.3532delG p.E1178fs*48 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5799912 NCOA5 c.898G>C p.E300Q Substitution - Missense Breast COSM5822608 CLOCK c.2445G>A p.Q815Q Substitution - coding silent Liver COSM5945261 KMT2D c.5863G>T p.E1955* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5891263 HDAC8 c.694C>T p.Q232* Substitution - Nonsense Skin COSM5956035 HCFC1 c.2846T>C p.V949A Substitution - Missense Upper_aerodigestive_tract COSM5963427 DHX30 c.74G>A p.R25H Substitution - Missense Breast COSM5989617 FMR1 c.309delC p.Y103fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5996515 BRPF3 c.47G>A p.R16H Substitution - Missense Prostate COSM52954 DNMT3A c.? p.R882P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM5031029 KMT2D c.? p.?fs Frameshift Central_nervous_system COSM1169382 EZH2 c.? p.R690H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4167272 TET2 c.? p.S1431I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52015 TET2 c.? p.? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM97048 IDH2 c.? p.R140? Unknown Haematopoietic_and_lymphoid_tissue COSM52784 PBRM1 c.1818+1G>A p.? Unknown Kidney COSM240696 KMT2C c.13294T>C p.C4432R Substitution - Missense Prostate COSM4392416 DHX30 c.2165T>C p.V722A Substitution - Missense Prostate COSM5944126 EZH2 c.1690G>A p.G564R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM332224 KMT2D c.4670C>T p.P1557L Substitution - Missense Lung COSM4663700 ASH1L c.5697T>C p.A1899A Substitution - coding silent Large_intestine COSM2813359 CARM1 c.1088_1090delAAG p.E364delE Deletion - In frame Large_intestine COSM3511212 PRMT7 c.1369A>C p.K457Q Substitution - Missense Skin COSM944177 AICDA c.466G>A p.E156K Substitution - Missense Skin COSM254834 NCOA7 c.1322C>G p.S441C Substitution - Missense Urinary_tract COSM1161958 KDM5C c.2062-2A>T p.? Unknown Kidney COSM2874661 NCOA2 c.600T>C p.C200C Substitution - coding silent Large_intestine COSM5986739 TDRD6 c.1918C>T p.Q640* Substitution - Nonsense Salivary_gland COSM4060705 CREBBP c.4740C>T p.G1580G Substitution - coding silent Stomach COSM255182 PHF6 c.653_667>13 p.G218fs*3 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM3643073 ZCWPW1 c.1591G>A p.E531K Substitution - Missense Skin COSM1330933 CHD7 c.7761A>G p.K2587K Substitution - coding silent Ovary COSM1200962 CHD2 c.2973+2T>C p.? Unknown Large_intestine COSM5938509 HCFC1 c.3745G>A p.E1249K Substitution - Missense Skin COSM5904304 TIF1 c.1085T>A p.F362Y Substitution - Missense Skin COSM5979533 CHD7 c.8428T>A p.F2810I Substitution - Missense Upper_aerodigestive_tract COSM1406748 ATAD2B_ENST00000238789 c.785-1G>T p.? Unknown Large_intestine COSM1193141 ASH1L c.3814C>T p.R1272W Substitution - Missense Lung COSM3785383 DNMT3B c.1804G>A p.V602I Substitution - Missense Pancreas COSM5736058 SMEK2 c.1798A>G p.R600G Substitution - Missense Small_intestine COSM4949777 BRD1 c.1969G>C p.D657H Substitution - Missense Liver COSM125332 PHF14 c.1176T>A p.D392E Substitution - Missense Upper_aerodigestive_tract COSM1355790 MEN1 c.1740G>A p.T580T Substitution - coding silent Large_intestine COSM3751642 PWWP2B c.292C>G p.R98G Substitution - Missense Thyroid COSM939982 KMT2D c.14650C>T p.R4884W Substitution - Missense Stomach COSM1125485 ATRX c.2536G>T p.D846Y Substitution - Missense Endometrium COSM2178827 TTF2 c.2110C>T p.P704S Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1127360 ASH1L c.4403G>T p.S1468I Substitution - Missense Prostate COSM42057 TET2 c.3803+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4610323 DPF2 c.979T>C p.C327R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1737964 TET2 c.3765C>G p.Y1255* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1344639 RERE c.248delA p.K83fs*12 Deletion - Frameshift Stomach COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM3294807 EYA2 c.1529C>T p.A510V Substitution - Missense Stomach COSM2019052 RSF1 c.2887C>T p.R963C Substitution - Missense Large_intestine COSM3371030 SMCHD1 c.1206A>G p.L402L Substitution - coding silent Thyroid COSM133407 DIDO1 c.3610_3611AA>GC p.N1204A Substitution - Missense Ovary COSM3764561 CREBBP c.3599G>A p.C1200Y Substitution - Missense Central_nervous_system COSM1109529 UHRF2 c.1182T>C p.T394T Substitution - coding silent Endometrium COSM1725278 MECOM c.1333A>C p.N445H Substitution - Missense Liver COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3291688 CHD6 c.3745G>C p.E1249Q Substitution - Missense Upper_aerodigestive_tract COSM1205908 EZH2 c.1072C>T p.R358C Substitution - Missense Large_intestine COSM4946462 SMCHD1 c.3850A>G p.I1284V Substitution - Missense Liver COSM2961684 MYST3 c.4606C>T p.P1536S Substitution - Missense Large_intestine COSM4160047 BRD9 c.902T>C p.V301A Substitution - Missense Biliary_tract COSM1287834 SETD8 c.1044G>A p.P348P Substitution - coding silent Central_nervous_system COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM234844 KDM4C c.2778C>T p.I926I Substitution - coding silent Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM108000 TRIM24 c.2676G>A p.K892K Substitution - coding silent Skin COSM218863 ARID1B c.3281G>A p.G1094D Substitution - Missense Pancreas COSM2068772 HDAC7 c.1680C>G p.L560L Substitution - coding silent Large_intestine COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM3837416 HAT1 c.618G>A p.E206E Substitution - coding silent Breast COSM1716899 ATRX c.1339G>A p.E447K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3817821 SRCAP c.5224C>G p.P1742A Substitution - Missense Breast COSM1270460 WHSC1 c.124C>T p.R42C Substitution - Missense Oesophagus COSM5511486 PHC2 c.337A>C p.S113R Substitution - Missense Biliary_tract COSM674885 PRDM2 c.4584G>T p.Q1528H Substitution - Missense Lung COSM4486120 KMT2A c.3014C>T p.S1005F Substitution - Missense Skin COSM2206317 PRMT8 c.136G>A p.V46I Substitution - Missense Pancreas COSM254810 KMT2A c.4368C>A p.H1456Q Substitution - Missense Urinary_tract COSM5624070 KDM4A c.1813C>T p.R605C Substitution - Missense Oesophagus COSM5054916 BRD7 c.1900G>T p.D634Y Substitution - Missense Stomach COSM4385433 ATRX c.1090G>A p.A364T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4023036 ASH1L c.8580A>G p.E2860E Substitution - coding silent Stomach COSM5372985 PHRF1 c.3030C>T p.S1010S Substitution - coding silent Skin COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4150439 PRDM5 c.573G>C p.Q191H Substitution - Missense Ovary COSM4928431 PHF20 c.2039G>T p.C680F Substitution - Missense Liver COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1618924 CLOCK c.1397A>T p.H466L Substitution - Missense Liver COSM4591406 DIDO1 c.4867G>A p.E1623K Substitution - Missense Upper_aerodigestive_tract COSM4954034 BRD8 c.1990G>T p.V664L Substitution - Missense Liver COSM1126920 BRDT c.748C>G p.P250A Substitution - Missense Prostate COSM1666862 ARID1A c.? p.? Unknown Endometrium COSM1179212 ASH1L c.4708G>T p.G1570* Substitution - Nonsense Prostate COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4488037 BAZ2A c.3373C>T p.Q1125* Substitution - Nonsense Skin COSM3877922 SND1 c.2629G>A p.E877K Substitution - Missense Stomach COSM3842930 HDAC10 c.195-10C>T p.? Unknown Breast COSM4955678 TAF1 c.2926A>C p.K976Q Substitution - Missense Liver COSM5128599 BAHCC1 c.1112G>T p.G371V Substitution - Missense Large_intestine COSM3878493 TIF1 c.2551C>T p.P851S Substitution - Missense Stomach COSM726294 CBX7 c.264C>A p.D88E Substitution - Missense Lung COSM1132268 ZMYM3 c.199G>T p.E67* Substitution - Nonsense Prostate COSM4166536 TET2 c.? p.Q769fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM3411770 EZH2 c.363G>C p.M121I Substitution - Missense Central_nervous_system COSM3578893 SP140_ENST00000392045 c.799G>A p.E267K Substitution - Missense Skin COSM43394 SETD2 c.455T>A p.L152* Substitution - Nonsense Kidney COSM4490742 CHD7 c.3689C>T p.S1230F Substitution - Missense Skin COSM3703323 TRRAP c.8616C>T p.Y2872Y Substitution - coding silent Liver COSM1658921 BRD8 c.2242G>A p.V748M Substitution - Missense Salivary_gland COSM1122931 KDM5C c.3691C>A p.P1231T Substitution - Missense Endometrium COSM4936186 SP110 c.259C>G p.Q87E Substitution - Missense Liver COSM4063047 CDYL2 c.245G>A p.R82Q Substitution - Missense Stomach COSM4119804 ATXN7 c.1965G>A p.T655T Substitution - coding silent Stomach COSM4003939 BAG6 c.500T>G p.V167G Substitution - Missense Oesophagus COSM4444426 BAZ2A c.2276G>A p.R759Q Substitution - Missense Large_intestine COSM1125465 ATRX c.3512G>T p.R1171I Substitution - Missense Endometrium COSM3361997 NCOR1 c.4113C>T p.V1371V Substitution - coding silent Kidney COSM462388 UHRF2 c.251C>G p.S84C Substitution - Missense Cervix COSM1362057 KMT2D c.2885delG p.G962fs*95 Deletion - Frameshift Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3560216 SCML2 c.462G>A p.M154I Substitution - Missense Skin COSM5742962 PBRM1 c.302T>A p.L101Q Substitution - Missense Small_intestine COSM1183854 ATAD2 c.553C>G p.L185V Substitution - Missense Large_intestine COSM1048968 SETD5_ENST00000402198 c.246G>A p.P82P Substitution - coding silent Endometrium COSM116885 PRDM15 c.3749A>G p.E1250G Substitution - Missense Ovary COSM1221901 PRDM8 c.1115C>T p.A372V Substitution - Missense Large_intestine COSM1713610 NCOA3 c.1160T>C p.I387T Substitution - Missense Skin COSM5971387 BAHD1 c.1357G>A p.G453R Substitution - Missense Upper_aerodigestive_tract COSM5880240 TAF1L c.4016G>A p.G1339E Substitution - Missense Skin COSM4383771 TET2 c.944delC p.Q317fs*30 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM393967 ACTA1 c.1109C>A p.S370Y Substitution - Missense Lung COSM1349799 BTAF1 c.3238C>G p.Q1080E Substitution - Missense Large_intestine COSM1323560 PRMT5 c.659G>A p.R220H Substitution - Missense Ovary COSM4843982 PHC2 c.231G>C p.Q77H Substitution - Missense Cervix COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4387382 SMARCA2 c.3392T>C p.L1131P Substitution - Missense Lung COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5375176 ARID2 c.2953C>T p.P985S Substitution - Missense Skin COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM328564 NIPBL c.423T>A p.N141K Substitution - Missense Kidney COSM4669277 CARM1 c.524C>A p.A175D Substitution - Missense Large_intestine COSM3615226 PRDM9 c.2505G>A p.R835R Substitution - coding silent Skin COSM3749716 NCOA3 c.3753G>A p.Q1251Q Substitution - coding silent Biliary_tract COSM138529 DUSP1 c.1036C>T p.P346S Substitution - Missense Skin COSM5882890 SMARCD2 c.1027G>A p.D343N Substitution - Missense Upper_aerodigestive_tract COSM677839 TDRD5 c.1605G>T p.R535S Substitution - Missense Lung COSM958938 UBR7 c.1047G>T p.Q349H Substitution - Missense Endometrium COSM5063274 CHD7 c.470G>A p.R157Q Substitution - Missense Stomach COSM4768294 MGA c.112C>G p.Q38E Substitution - Missense Biliary_tract COSM5996480 BAG6 c.305C>T p.T102M Substitution - Missense Prostate COSM5790392 SETD6 c.707T>G p.L236R Substitution - Missense Breast COSM3670074 PHF2 c.2334G>T p.E778D Substitution - Missense Liver COSM1615599 CHD6 c.1975T>C p.F659L Substitution - Missense Liver COSM1665672 PBRM1 c.1994delT p.V665fs*5 Deletion - Frameshift Kidney COSM1157924 CLOCK c.763G>A p.V255I Substitution - Missense Pancreas COSM53061 TET2 c.? p.Q960fs*50 Frameshift Haematopoietic_and_lymphoid_tissue COSM5762898 KMT2A c.8956G>A p.E2986K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5886553 TRRAP c.199C>T p.P67S Substitution - Missense Skin COSM1027546 NCOA3 c.3786G>A p.Q1262Q Substitution - coding silent Kidney COSM79231 MSH6 c.3132C>G p.Y1044* Substitution - Nonsense Ovary COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1749574 MYST1 c.781C>T p.Q261* Substitution - Nonsense Urinary_tract COSM4713894 PHC2 c.2034A>G p.G678G Substitution - coding silent Large_intestine COSM1487661 DAXX c.1142T>G p.M381R Substitution - Missense Breast COSM255855 CTCF c.1253A>G p.Q418R Substitution - Missense Central_nervous_system COSM1344880 BRDT c.1125G>T p.K375N Substitution - Missense Large_intestine COSM5945630 PHF6 c.969-2A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1034575 EP300 c.5842T>A p.F1948I Substitution - Missense Endometrium COSM4728460 SMEK1 c.1303C>G p.L435V Substitution - Missense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4041994 ARID2 c.4496T>C p.L1499P Substitution - Missense Stomach COSM1299143 EP400 c.8199G>A p.Q2733Q Substitution - coding silent Large_intestine COSM415326 KMT2A c.4697G>A p.G1566E Substitution - Missense Urinary_tract COSM4903655 MYST3 c.1138G>A p.E380K Substitution - Missense Skin COSM485095 KMT2C c.3309T>A p.C1103* Substitution - Nonsense Endometrium COSM4886656 PHF2 c.817C>A p.P273T Substitution - Missense Upper_aerodigestive_tract COSM3848235 SMARCA2 c.380C>T p.P127L Substitution - Missense Breast COSM403571 MORF4L2 c.219G>T p.R73S Substitution - Missense Liver COSM3723033 PHF14 c.2567C>T p.S856F Substitution - Missense Upper_aerodigestive_tract COSM1230633 TRRAP c.10819G>A p.D3607N Substitution - Missense Large_intestine COSM975878 NCOR1 c.3657C>T p.I1219I Substitution - coding silent Endometrium COSM376259 SETD1A c.1386A>T p.P462P Substitution - coding silent Lung COSM5600714 TP53BP1 c.3266C>T p.P1089L Substitution - Missense Skin COSM2221612 EED c.213delA p.K72fs*14 Deletion - Frameshift Large_intestine COSM317905 PRDM9 c.1432A>C p.S478R Substitution - Missense Soft_tissue COSM390796 BRD4 c.709C>T p.P237S Substitution - Missense Lung COSM1238282 BAZ2A_ENST00000379441 c.4418G>T p.R1473M Substitution - Missense Oesophagus COSM1200991 CHD6 c.4783C>T p.R1595C Substitution - Missense Large_intestine COSM5384755 SRCAP c.8009C>A p.A2670D Substitution - Missense Skin COSM4851342 ATRX c.1493G>C p.R498T Substitution - Missense Cervix COSM1750410 KDM6B c.4383C>T p.L1461L Substitution - coding silent Urinary_tract COSM4836604 KMT2C c.7384C>T p.Q2462* Substitution - Nonsense Cervix COSM4070278 KDM6B c.40C>T p.R14W Substitution - Missense Stomach COSM3634205 JHDM1D c.217C>T p.H73Y Substitution - Missense Skin COSM3751836 ERCC6 c.3637A>G p.R1213G Substitution - Missense Soft_tissue COSM87101 TET2 c.2441_2441delG p.R814fs*10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM312120 JMJD5 c.384_387delGATG p.M129fs*45 Deletion - Frameshift Lung COSM4756365 ZGPAT c.320C>T p.A107V Substitution - Missense Stomach COSM3887814 CHD2 c.2539A>T p.K847* Substitution - Nonsense Skin COSM1264009 RERE c.1645G>A p.V549M Substitution - Missense Oesophagus COSM4619428 IDH2 c.636C>T p.F212F Substitution - coding silent Large_intestine COSM27976 SMARCB1 c.430delG p.A144fs*32 Deletion - Frameshift Central_nervous_system COSM5037017 ARID1B c.6646C>T p.L2216L Substitution - coding silent Oesophagus COSM692215 EP400 c.9174C>T p.T3058T Substitution - coding silent Lung COSM4021105 TTF2 c.643G>A p.D215N Substitution - Missense Stomach COSM486565 CHD7 c.5106C>T p.S1702S Substitution - coding silent Kidney COSM945411 ING1 c.679G>T p.D227Y Substitution - Missense Large_intestine COSM4189033 PRDM4 c.493A>G p.I165V Substitution - Missense Kidney COSM3500996 INOC1 c.4399G>A p.A1467T Substitution - Missense Skin COSM1211252 JARID2 c.2197C>T p.R733C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3777986 MLL5 c.1521G>A p.Q507Q Substitution - coding silent Urinary_tract COSM5752046 TDRD6 c.343_344insT p.G115fs*45 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1296801 MTF2 c.1517G>C p.R506T Substitution - Missense Urinary_tract COSM4984241 EYA4 c.1004C>G p.P335R Substitution - Missense Oesophagus COSM4014441 ERCC6 c.3294T>C p.S1098S Substitution - coding silent Stomach COSM970614 CREBBP c.732G>A p.T244T Substitution - coding silent Endometrium COSM707005 MYST2 c.167C>T p.S56F Substitution - Missense Lung COSM254631 CREBBP c.6983C>T p.S2328L Substitution - Missense Urinary_tract COSM417170 RAI1 c.3917C>G p.S1306C Substitution - Missense Urinary_tract COSM51209 TET2 c.4642C>T p.Q1548* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5373395 SUV420H1 c.6G>A p.K2K Substitution - coding silent Skin COSM5629548 KDM6B c.4684G>T p.A1562S Substitution - Missense Oesophagus COSM52824 PBRM1 c.3816delA p.G1273fs*2 Deletion - Frameshift Kidney COSM4153051 ACTB c.455T>C p.V152A Substitution - Missense Kidney COSM1416614 TCF20 c.5826delC p.L1943fs*>18 Deletion - Frameshift Small_intestine COSM4031026 ARID1A c.6584T>C p.L2195P Substitution - Missense Stomach COSM5769116 ZGPAT c.1051G>C p.G351R Substitution - Missense Breast COSM3840815 NCOA6 c.6103C>T p.R2035C Substitution - Missense Breast COSM2950088 BRPF1 c.2874G>A p.S958S Substitution - coding silent Large_intestine COSM3712557 BPTF c.5388G>T p.M1796I Substitution - Missense Upper_aerodigestive_tract COSM5430918 KAT6B c.2465A>G p.E822G Substitution - Missense Oesophagus COSM4911399 DIDO1 c.1655C>T p.P552L Substitution - Missense Liver COSM976122 RAI1 c.2752T>C p.C918R Substitution - Missense Endometrium COSM3642792 TRRAP c.6393C>T p.F2131F Substitution - coding silent Skin COSM1679535 CHD3 c.521C>A p.A174D Substitution - Missense Large_intestine COSM3578860 SP110 c.1863C>T p.S621S Substitution - coding silent Skin COSM5944938 DNMT3A c.2006C>T p.S669F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24926 HNF1A c.1288_1289delGG p.G430fs*118 Deletion - Frameshift Liver COSM4032043 PRMT3 c.1002T>A p.F334L Substitution - Missense Stomach COSM927030 PRDM11 c.1348C>T p.R450C Substitution - Missense Skin COSM1257774 KMT2A c.8591G>A p.G2864D Substitution - Missense Oesophagus COSM5484572 SMYD1 c.1455G>A p.L485L Substitution - coding silent Large_intestine COSM4702910 MORF4L1 c.332A>C p.K111T Substitution - Missense Large_intestine COSM4417877 SETD5_ENST00000402198 c.3859C>T p.H1287Y Substitution - Missense Prostate COSM920008 SFMBT2 c.1915T>C p.L639L Substitution - coding silent Endometrium COSM78473 SETD4 c.269G>A p.R90Q Substitution - Missense Endometrium COSM937186 EP400 c.7855G>A p.A2619T Substitution - Missense Endometrium COSM443343 SMYD1 c.729_731delAGA p.E244delE Deletion - In frame Breast COSM3364632 SP140 c.307G>A p.E103K Substitution - Missense Kidney COSM5506403 ARID2 c.300C>T p.Y100Y Substitution - coding silent Biliary_tract COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4952633 BPTF c.2009C>T p.A670V Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5962325 HDAC1 c.1193A>G p.E398G Substitution - Missense Breast COSM228110 KMT2C c.1042G>A p.D348N Substitution - Missense Large_intestine COSM455833 TAF1L c.742G>A p.E248K Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1641333 PHF20 c.3006G>T p.K1002N Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3124685 ZBTB38 c.3173G>A p.R1058H Substitution - Missense Central_nervous_system COSM4576244 SETDB1 c.3510A>G p.K1170K Substitution - coding silent Liver COSM5423526 SETD2 c.5158delG p.V1720fs*25 Deletion - Frameshift Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4792076 TRIM28 c.1005G>T p.M335I Substitution - Missense Liver COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM432838 CHD8 c.3510C>T p.I1170I Substitution - coding silent Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5608365 EP300 c.6537C>T p.F2179F Substitution - coding silent Skin COSM3692452 MBD3 c.549C>T p.S183S Substitution - coding silent Large_intestine COSM4186905 KDM5C c.845delA p.K282fs*17 Deletion - Frameshift Kidney COSM1245454 ARID2 c.1624C>T p.R542* Substitution - Nonsense Skin COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Bone COSM221269 EP300 c.1244T>C p.L415P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM166805 SMC1A c.2456T>A p.I819N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM1471941 TRIM24 c.117G>A p.P39P Substitution - coding silent Prostate COSM284931 SFMBT2 c.1482G>T p.E494D Substitution - Missense Large_intestine COSM3596043 PHF7 c.234C>T p.F78F Substitution - coding silent Skin COSM85805 DAXX c.916C>T p.R306* Substitution - Nonsense Pancreas COSM1755470 ZCWPW1 c.118G>A p.E40K Substitution - Missense Urinary_tract COSM4387471 EP300 c.4365G>T p.Q1455H Substitution - Missense Oesophagus COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4387476 EP300 c.4540_4541GA>AT p.E1514I Substitution - Missense Oesophagus COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM3461509 KMT2D c.15165C>T p.P5055P Substitution - coding silent Skin COSM3474952 ASH1L c.8158C>T p.P2720S Substitution - Missense Skin COSM21485 HNF1A c.749A>C p.Q250P Substitution - Missense Liver COSM1745750 ZMYND11 c.247C>T p.H83Y Substitution - Missense Urinary_tract COSM220672 KMT2D c.8570G>A p.R2857H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4457338 ZMYM3 c.1040C>T p.P347L Substitution - Missense Skin COSM1443750 RING1 c.743G>T p.S248I Substitution - Missense Large_intestine COSM4979623 JARID2 c.1020C>T p.A340A Substitution - coding silent Oesophagus COSM972734 PRMT7 c.409C>T p.R137C Substitution - Missense Endometrium COSM1239039 GTF3C1 c.5489A>G p.E1830G Substitution - Missense Oesophagus COSM5811387 ATAD2 c.1504C>T p.L502L Substitution - coding silent Liver COSM1124902 TAF1 c.3505C>T p.R1169C Substitution - Missense Endometrium COSM4399235 SCML2 c.1117C>T p.P373S Substitution - Missense Skin COSM1108529 KIAA1045 c.262G>A p.V88M Substitution - Missense Endometrium COSM21294 TRRAP c.8738C>T p.T2913M Substitution - Missense Large_intestine COSM21736 RAD54L c.1252C>T p.P418S Substitution - Missense Skin COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM75425 KMT2C c.10495C>G p.Q3499E Substitution - Missense Ovary COSM144171 ARID1A c.4270C>T p.Q1424* Substitution - Nonsense Oesophagus COSM149376 SETD2 c.4376C>T p.P1459L Substitution - Missense Soft_tissue COSM218772 DHX30 c.2003C>T p.P668L Substitution - Missense Pancreas COSM212337 HDAC1 c.418C>T p.H140Y Substitution - Missense Breast COSM217035 ARID1A c.1169_1170insT p.M390fs*10 Insertion - Frameshift Liver COSM254626 CREBBP c.3874C>T p.Q1292* Substitution - Nonsense Urinary_tract COSM254840 NCOR1 c.197G>A p.R66Q Substitution - Missense Large_intestine COSM251379 ARID1A c.2457_2458insC p.N820fs*52 Insertion - Frameshift Liver COSM264227 TRRAP c.8518C>T p.R2840W Substitution - Missense Large_intestine COSM306061 PHF6 c.821G>A p.R274Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM344499 PHF12 c.1224G>C p.G408G Substitution - coding silent Lung COSM356406 PRDM16 c.543G>T p.Q181H Substitution - Missense Lung COSM356896 ATAD2B_ENST00000238789 c.4356T>G p.H1452Q Substitution - Missense Lung COSM417942 CHD3 c.3563C>T p.A1188V Substitution - Missense Urinary_tract COSM432189 MPHOSPH8 c.718A>T p.T240S Substitution - Missense Breast COSM984432 ZBTB4 c.832C>A p.P278T Substitution - Missense Endometrium COSM480288 BAP1 c.799C>T p.Q267* Substitution - Nonsense Biliary_tract COSM915023 TDRD1 c.2058C>T p.D686D Substitution - coding silent Endometrium COSM1046996 BAP1 c.631A>G p.M211V Substitution - Missense Endometrium COSM1027547 NCOA3 c.3801G>T p.Q1267H Substitution - Missense Endometrium COSM1019129 NCOA1 c.917A>G p.E306G Substitution - Missense Endometrium COSM3724542 MEN1 c.1220_1221delCT p.P407fs*41 Deletion - Frameshift Lung COSM908630 ZMYM6 c.535A>C p.K179Q Substitution - Missense Endometrium COSM1039190 ZBTB38 c.7G>A p.V3I Substitution - Missense Endometrium COSM1045477 SETD2 c.2782G>A p.V928I Substitution - Missense Endometrium COSM1041417 TBL1XR1 c.646C>A p.R216R Substitution - coding silent Endometrium COSM1071740 PRDM1 c.1040C>T p.T347M Substitution - Missense Skin COSM970598 CREBBP c.2140C>T p.R714C Substitution - Missense Endometrium COSM1114824 SMARCA1 c.149C>T p.T50M Substitution - Missense Endometrium COSM1108226 TAF1L c.3613C>T p.R1205* Substitution - Nonsense Endometrium COSM1108243 TAF1L c.2095C>A p.L699I Substitution - Missense Endometrium COSM1123027 SMC1A c.2924G>A p.R975Q Substitution - Missense Endometrium COSM1100812 CHD7 c.3709A>G p.N1237D Substitution - Missense Endometrium COSM1100910 CHD7 c.8532G>T p.E2844D Substitution - Missense Endometrium COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1233563 ZMYND8 c.3033T>G p.F1011L Substitution - Missense Large_intestine COSM1228408 TAF1 c.365G>A p.R122Q Substitution - Missense Skin COSM1163731 ADNP c.3047delA p.K1016fs*11 Deletion - Frameshift Pancreas COSM1205369 EP300 c.4397G>T p.W1466L Substitution - Missense Stomach COSM1196778 BAZ2A_ENST00000379441 c.4328G>A p.R1443Q Substitution - Missense Lung COSM1204304 DNMT3B c.43G>A p.G15S Substitution - Missense Large_intestine COSM1262948 PRDM15 c.2638C>T p.R880W Substitution - Missense Oesophagus COSM1265340 SETD2 c.5110C>G p.Q1704E Substitution - Missense Oesophagus COSM1172130 ARID1A c.6160G>T p.E2054* Substitution - Nonsense Pancreas COSM1315515 KDM6A c.943G>C p.E315Q Substitution - Missense Urinary_tract COSM1291188 AIRE c.1082C>A p.P361H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1316519 SMC1A c.809T>G p.L270R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1334938 HDGF c.149_150insT p.G51fs*63 Insertion - Frameshift Large_intestine COSM1423647 DHX30 c.2699T>C p.L900P Substitution - Missense Large_intestine COSM1447861 SND1 c.697C>T p.R233W Substitution - Missense Large_intestine COSM1458056 PRDM14 c.1274T>C p.V425A Substitution - Missense Large_intestine COSM1341883 PRDM16 c.1680C>T p.S560S Substitution - coding silent Large_intestine COSM1363055 SMARCC2 c.1840G>T p.E614* Substitution - Nonsense Thyroid COSM1716568 BAP1 c.581-?_659+?del p.? Unknown Pleura COSM1666297 PRDM2 c.4798T>C p.S1600P Substitution - Missense Eye COSM1741351 ARID1A c.3040delC p.L1014fs*25 Deletion - Frameshift Urinary_tract COSM2098405 CHD4 c.4047C>A p.S1349S Substitution - coding silent Upper_aerodigestive_tract COSM2098405 CHD4 c.4047C>A p.S1349S Substitution - coding silent Upper_aerodigestive_tract COSM2828730 SETD5_ENST00000402198 c.261A>G p.E87E Substitution - coding silent Upper_aerodigestive_tract COSM3384195 ATF7IP c.3141G>T p.V1047V Substitution - coding silent Pancreas COSM3382277 CHD7 c.1266G>T p.M422I Substitution - Missense Pancreas COSM3386109 ZMYM4 c.4166A>G p.K1389R Substitution - Missense Pancreas COSM3496566 ARID4A c.1903G>A p.G635S Substitution - Missense Skin COSM3461525 KMT2D c.12971C>T p.A4324V Substitution - Missense Skin COSM3636533 KMT2C c.2351C>T p.S784F Substitution - Missense Skin COSM3589871 MECOM c.1586C>T p.S529L Substitution - Missense Skin COSM3608880 BRD8 c.2617C>T p.H873Y Substitution - Missense Skin COSM3580257 DNMT3A c.1255C>A p.P419T Substitution - Missense Skin COSM3561974 HDAC6 c.379C>T p.R127C Substitution - Missense Skin COSM3686843 SFMBT2 c.2311C>T p.R771C Substitution - Missense Large_intestine COSM3717551 BPTF c.5291G>A p.G1764D Substitution - Missense Liver COSM3713854 SMARCA1 c.824G>T p.R275L Substitution - Missense Upper_aerodigestive_tract COSM3740095 NCOA6 c.2178G>A p.Q726Q Substitution - coding silent Liver COSM3793163 MPHOSPH8 c.427G>C p.E143Q Substitution - Missense Oesophagus COSM3931756 PHC1 c.2666G>T p.S889I Substitution - Missense Urinary_tract COSM3940108 HDAC8 c.997G>A p.D333N Substitution - Missense Oesophagus COSM3931551 SETD1B c.472C>T p.P158S Substitution - Missense Urinary_tract COSM3824346 PBRM1 c.2217T>C p.N739N Substitution - coding silent Breast COSM3848129 EHMT1 c.1953C>T p.D651D Substitution - coding silent Breast COSM3910738 KDM3A c.396C>T p.R132R Substitution - coding silent Skin COSM3917833 GABRG1 c.30C>T p.S10S Substitution - coding silent Skin COSM3914350 KDM5D c.394C>T p.R132C Substitution - Missense Skin COSM3980504 MTA2 c.593+9T>G p.? Unknown Ovary COSM4013334 BMI1 c.415G>A p.D139N Substitution - Missense Breast COSM4029649 KDM1A c.676A>G p.T226A Substitution - Missense Stomach COSM4006667 KMT2C c.3340T>C p.C1114R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4041875 KDM5A c.1615A>G p.I539V Substitution - Missense Stomach COSM4035912 KDM2A c.1300C>T p.H434Y Substitution - Missense Stomach COSM4042397 KMT2D c.3316A>G p.M1106V Substitution - Missense Stomach COSM4099503 PCNA c.226T>C p.S76P Substitution - Missense Stomach COSM4095792 PCGF1 c.488G>A p.R163Q Substitution - Missense Stomach COSM4074040 SMARCA4 c.2344G>A p.G782S Substitution - Missense Stomach COSM4055771 PYGO1 c.723T>C p.F241F Substitution - coding silent Stomach COSM4148716 BAHD1 c.745T>G p.W249G Substitution - Missense Thyroid COSM4333276 PBRM1 c.3083T>A p.V1028D Substitution - Missense Biliary_tract COSM4310678 SP140_ENST00000392045 c.1941C>T p.G647G Substitution - coding silent Biliary_tract COSM4387455 BAP1 c.580+2T>G p.? Unknown Eye COSM4406435 KMT2C c.2533-5C>A p.? Unknown Pancreas COSM4389500 SMARCA4 c.1906G>A p.A636T Substitution - Missense Pancreas COSM4444310 SIRT1 c.1150C>T p.R384* Substitution - Nonsense Large_intestine COSM4574899 KDM4D c.999T>C p.Y333Y Substitution - coding silent Bone COSM4567491 CHD6 c.7360_7361CC>TT p.P2454F Substitution - Missense Skin COSM4510496 PYGO2 c.839C>T p.P280L Substitution - Missense Skin COSM4581761 PHF20 c.84-2A>C p.? Unknown Bone COSM4426122 BRPF1 c.3552G>C p.E1184D Substitution - Missense Oesophagus COSM4555452 CHD1 c.655G>A p.D219N Substitution - Missense Skin COSM4451964 TDRD7 c.1507A>T p.S503C Substitution - Missense Skin COSM4706968 NIPBL c.449_450insC p.S152fs*21 Insertion - Frameshift Large_intestine COSM4706972 NIPBL c.1543delG p.G516fs*24 Deletion - Frameshift Large_intestine COSM4717433 PRDM1 c.606C>A p.L202L Substitution - coding silent Large_intestine COSM4767451 KMT2C c.2769+5G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4742912 ZMYM3 c.3987G>A p.E1329E Substitution - coding silent Large_intestine COSM4638591 SMYD1 c.1347C>T p.R449R Substitution - coding silent Large_intestine COSM4613394 TP53BP1 c.3050delA p.N1017fs*20 Deletion - Frameshift Prostate COSM4771563 CREBBP c.3162_3169delAGTGAAAG p.E1054fs*4 Deletion - Frameshift Breast COSM4803888 RUVBL1 c.194C>T p.A65V Substitution - Missense Liver COSM4904584 ADNP c.1963C>A p.P655T Substitution - Missense Skin COSM4923603 CAMKMT c.438G>A p.R146R Substitution - coding silent Liver COSM4844755 LBR c.1630C>T p.R544C Substitution - Missense Cervix COSM4958333 RNF17 c.1206G>A p.V402V Substitution - coding silent Liver COSM4949851 SMYD2 c.317T>C p.V106A Substitution - Missense Liver COSM4998639 SMARCA4 c.3410T>C p.M1137T Substitution - Missense Pancreas COSM4986867 KDM6B c.2924G>A p.R975Q Substitution - Missense Soft_tissue COSM5004461 KMT2D c.1138_1139insC p.T382fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5033987 ATXN7 c.554T>C p.V185A Substitution - Missense Skin COSM5056327 MBD3 c.402G>A p.P134P Substitution - coding silent Stomach COSM5178146 SP140_ENST00000392045 c.1372A>G p.M458V Substitution - Missense Large_intestine COSM5049328 ATAD2 c.837T>A p.D279E Substitution - Missense Oesophagus COSM5361962 KMT2D c.4977A>G p.G1659G Substitution - coding silent Large_intestine COSM5499280 KDM6B c.3988A>G p.T1330A Substitution - Missense Biliary_tract COSM5470677 KAT2A c.2059C>T p.R687C Substitution - Missense Large_intestine COSM5486895 L3MBTL4 c.1728G>T p.L576L Substitution - coding silent Large_intestine COSM5624349 RAI1 c.4082T>C p.L1361P Substitution - Missense Oesophagus COSM5758213 ATRX c.3079C>G p.H1027D Substitution - Missense Bone COSM5718892 HDAC4 c.704C>T p.A235V Substitution - Missense Skin COSM5723097 DNMT3B c.2215C>T p.L739L Substitution - coding silent Skin COSM5745226 ALKBH1 c.769G>T p.G257C Substitution - Missense Pancreas COSM5606947 PRDM15 c.3124C>T p.H1042Y Substitution - Missense Skin COSM5619923 GTF3C1 c.4474C>T p.R1492W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5600202 PHF21B c.438G>A p.A146A Substitution - coding silent Skin COSM5752654 ARID1A c.1934C>G p.S645* Substitution - Nonsense Breast COSM5802063 CREBBP c.3622_3623insC p.Q1209fs*25 Insertion - Frameshift Breast COSM5944134 TET2 c.5650_5650delA p.T1884fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5932502 TAF1L c.2820G>A p.M940I Substitution - Missense Skin COSM5953527 PHF12 c.1290A>T p.Q430H Substitution - Missense Oesophagus COSM5985266 KMT2C c.8140G>A p.D2714N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM4169538 TET2 c.? p.P616S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41746 TET2 c.4319_4319delG p.S1441fs*7 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85769 EZH2 c.? p.Y646? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85769 EZH2 c.? p.Y646? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM42003 TET2 c.4019T>C p.L1340P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1169382 EZH2 c.? p.R690H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM166348 DNMT3A c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5880326 ATRX c.? p.H2254R Substitution - Missense Central_nervous_system COSM43409 TET2 c.? p.?fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM132980 ASXL1 c.? p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4972323 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43117 TET2 c.1_6009del6009 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM97048 IDH2 c.? p.R140? Unknown Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM2007241 KMT2D c.3732G>T p.E1244D Substitution - Missense Large_intestine COSM4538107 SETD1A c.2500G>A p.A834T Substitution - Missense Skin COSM4666265 BRWD3 c.2722-2delA p.? Unknown Large_intestine COSM4391917 PRDM8 c.951G>A p.P317P Substitution - coding silent Prostate COSM4821367 EP400 c.5636G>A p.R1879H Substitution - Missense Cervix COSM1265551 SHPRH c.2414C>T p.P805L Substitution - Missense Oesophagus COSM3521222 BPTF c.8099C>T p.S2700F Substitution - Missense Skin COSM87889 ARID1A c.1015delG p.A339fs*24 Deletion - Frameshift Central_nervous_system COSM4043529 SMARCC2 c.1796G>A p.R599H Substitution - Missense Stomach COSM5427776 KDM3B c.5078A>C p.N1693T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM687271 PRDM10 c.3315A>T p.Q1105H Substitution - Missense Lung COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM419984 SETD2 c.3376C>T p.H1126Y Substitution - Missense Upper_aerodigestive_tract COSM5822492 HDAC1 c.888G>A p.L296L Substitution - coding silent Liver COSM1334664 ASH1L c.3038A>C p.K1013T Substitution - Missense Large_intestine COSM1166149 DIDO1 c.6357C>T p.R2119R Substitution - coding silent Large_intestine COSM4890801 BAZ2B c.4290G>C p.E1430D Substitution - Missense Upper_aerodigestive_tract COSM4989966 ERCC6 c.2298C>T p.C766C Substitution - coding silent Skin COSM39948 CHD4 c.1935G>A p.R645R Substitution - coding silent Central_nervous_system COSM107384 RAI1 c.4543C>T p.P1515S Substitution - Missense Skin COSM1665816 TRDMT1 c.690delT p.F230fs*21 Deletion - Frameshift Kidney COSM4460445 MBD6 c.1166C>T p.P389L Substitution - Missense Skin COSM41644 TET2 c.1648C>T p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4171641 JHDM1D c.1625G>A p.C542Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5345050 SHPRH c.2199G>C p.E733D Substitution - Missense Large_intestine COSM4803367 BRPF3 c.2038G>C p.V680L Substitution - Missense Liver COSM3608987 KDM3B c.4399G>A p.E1467K Substitution - Missense Large_intestine COSM41644 TET2 c.1648C>T p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM146124 ZMYM3 c.3418C>G p.L1140V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1109568 KDM4C c.886G>T p.V296F Substitution - Missense Endometrium COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM423031 BAP1 c.458delC p.P153fs*34 Deletion - Frameshift Kidney COSM487199 WDR5 c.845T>C p.L282P Substitution - Missense Kidney COSM1057 SMARCB1 c.1148delC p.P383fs*>3 Deletion - Frameshift Central_nervous_system COSM4763010 ASH1L c.865A>G p.K289E Substitution - Missense Stomach COSM1046986 BAP1 c.2056G>T p.G686C Substitution - Missense Endometrium COSM4495981 SMARCA4 c.4557C>T p.Y1519Y Substitution - coding silent Skin COSM1732020 PBRM1 c.3249_3253delCAGGT p.R1084fs*21 Deletion - Frameshift Kidney COSM1030669 BRWD1 c.6100A>G p.N2034D Substitution - Missense Endometrium COSM923599 KMT2A c.9139G>A p.V3047M Substitution - Missense Endometrium COSM4054567 MGA c.5174C>T p.P1725L Substitution - Missense Stomach COSM382251 PRDM15 c.2470A>C p.K824Q Substitution - Missense Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM3973966 BRWD3 c.5205C>T p.T1735T Substitution - coding silent Central_nervous_system COSM3719167 MBD1 c.265C>A p.P89T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3687109 KMT2A c.11880C>T p.G3960G Substitution - coding silent Large_intestine COSM3154324 PRDM1 c.1448C>T p.A483V Substitution - Missense Oesophagus COSM1032620 SMARCB1 c.378G>C p.K126N Substitution - Missense Endometrium COSM1028965 DIDO1 c.5901C>T p.F1967F Substitution - coding silent Endometrium COSM3821296 SMCHD1 c.236T>G p.F79C Substitution - Missense Breast COSM378312 MBD5 c.3337C>G p.Q1113E Substitution - Missense Lung COSM147495 KMT2D c.11700A>G p.P3900P Substitution - coding silent Soft_tissue COSM3902428 TDRD7 c.3089A>G p.N1030S Substitution - Missense Stomach COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4949624 ARID1A c.622C>T p.P208S Substitution - Missense Liver COSM418776 NCOA1 c.1102C>T p.H368Y Substitution - Missense Urinary_tract COSM3291641 CHD6 c.6860G>A p.R2287Q Substitution - Missense Skin COSM20551 TRRAP c.5117G>A p.R1706H Substitution - Missense Stomach COSM5112229 KMT2D c.10369C>T p.R3457C Substitution - Missense Biliary_tract COSM3877890 SND1 c.656T>C p.V219A Substitution - Missense Stomach COSM172076 ERCC6 c.4210C>T p.R1404C Substitution - Missense Prostate COSM3845021 SMC1A c.2795C>A p.A932D Substitution - Missense Breast COSM1085185 SND1 c.1774C>T p.R592* Substitution - Nonsense Endometrium COSM3951832 NCOA2 c.2668G>A p.D890N Substitution - Missense Lung COSM5944901 DNMT3A c.2408G>A p.R803K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5360762 KMT2A c.5281-1G>A p.? Unknown Large_intestine COSM5565615 PHRF1 c.994C>T p.R332C Substitution - Missense Prostate COSM5758516 DAXX c.597G>A p.V199V Substitution - coding silent Bone COSM1114038 ZBTB33 c.1914G>T p.M638I Substitution - Missense Endometrium COSM977053 PHF12 c.1928G>T p.R643I Substitution - Missense Endometrium COSM1443747 RING1 c.511delG p.E173fs*14 Deletion - Frameshift Large_intestine COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3349899 PHF1 c.748C>T p.R250C Substitution - Missense Large_intestine COSM4803161 TDRD7 c.1326T>G p.A442A Substitution - coding silent Liver COSM4604570 ASXL1 c.1836G>C p.R612S Substitution - Missense Upper_aerodigestive_tract COSM4596479 BAHCC1 c.5240A>C p.N1747T Substitution - Missense Upper_aerodigestive_tract COSM4551040 RAG2 c.516G>A p.W172* Substitution - Nonsense Skin COSM5988781 SCML2 c.1117C>A p.P373T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1675664 MGMT c.371C>T p.P124L Substitution - Missense Skin COSM5800832 SMARCA2 c.1563G>C p.K521N Substitution - Missense Breast COSM255215 MEN1 c.646G>A p.A216T Substitution - Missense Lung COSM4831043 KDM1A c.817C>A p.H273N Substitution - Missense Cervix COSM1054446 WHSC1 c.3744C>T p.G1248G Substitution - coding silent Endometrium COSM3431926 TRRAP c.11007C>T p.I3669I Substitution - coding silent Large_intestine COSM3364630 SP110 c.2056G>A p.D686N Substitution - Missense Kidney COSM1411308 NCOA6 c.5407T>C p.S1803P Substitution - Missense Large_intestine COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Bone COSM43467 TET2 c.2827C>T p.Q943* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5511495 ZMYM4 c.3493C>T p.R1165* Substitution - Nonsense Biliary_tract COSM212884 KMT2C c.4634C>T p.T1545I Substitution - Missense Breast COSM2098262 CHD4 c.5398C>T p.R1800C Substitution - Missense Stomach COSM934204 TDG c.501G>A p.G167G Substitution - coding silent Endometrium COSM5782802 L3MBTL3 c.1632G>C p.L544F Substitution - Missense Breast COSM5913038 EPC1 c.1166C>T p.S389F Substitution - Missense Skin COSM1399855 EPC2 c.401T>A p.I134N Substitution - Missense Large_intestine COSM985438 CHD3 c.1713A>C p.E571D Substitution - Missense Endometrium COSM4606620 BAZ2A c.3862G>A p.G1288S Substitution - Missense Adrenal_gland COSM1067091 PRDM9 c.2235G>T p.E745D Substitution - Missense Endometrium COSM190811 ERCC6 c.2338G>A p.V780I Substitution - Missense Large_intestine COSM4411250 DPF1 c.739A>T p.I247F Substitution - Missense Kidney COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1629001 ZMYM2 c.1543G>T p.V515F Substitution - Missense Liver COSM286721 ZMYM1 c.2449C>T p.L817L Substitution - coding silent Endometrium COSM3929291 TRRAP c.4571C>T p.T1524M Substitution - Missense Central_nervous_system COSM1012909 ASXL1 c.2848_2848delC p.L950fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5052080 MPHOSPH8 c.855C>T p.D285D Substitution - coding silent Stomach COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1386960 CBX4 c.690delC p.N231fs*3 Deletion - Frameshift Large_intestine COSM3772291 SETD1B c.2121+8C>A p.? Unknown Pancreas COSM4586289 SHPRH c.1173T>G p.T391T Substitution - coding silent Bone COSM5715695 SETD2 c.5092G>C p.A1698P Substitution - Missense Skin COSM447109 MINA c.1153G>A p.A385T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM488146 HCFC1 c.1852C>T p.P618S Substitution - Missense Kidney COSM473839 SETBP1 c.3540C>A p.G1180G Substitution - coding silent Prostate COSM4714013 PHF3 c.5399C>A p.P1800Q Substitution - Missense Large_intestine COSM5715604 BRPF3 c.3343C>T p.P1115S Substitution - Missense Skin COSM23051 MEN1 c.1546_1547insC p.R516fs*15 Insertion - Frameshift Breast COSM3838815 SP100 c.1863C>A p.F621L Substitution - Missense Breast COSM1662107 HDAC6 c.1703C>A p.S568Y Substitution - Missense Kidney COSM740285 ARID1B c.3190G>A p.E1064K Substitution - Missense Lung COSM5639025 C20orf20 c.400G>A p.V134M Substitution - Missense Oesophagus COSM3950012 TRIM24 c.1481C>G p.P494R Substitution - Missense Lung COSM26816 MSH6 c.2731C>T p.R911* Substitution - Nonsense Central_nervous_system COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1221906 PRDM9 c.44C>T p.T15I Substitution - Missense Large_intestine COSM693063 ATF7IP c.2479G>T p.G827C Substitution - Missense Lung COSM4987865 BAZ2A_ENST00000379441 c.5243G>A p.G1748D Substitution - Missense Soft_tissue COSM5636718 EP300 c.2439delG p.S815fs*35 Deletion - Frameshift Oesophagus COSM4003461 NSD1 c.6829T>C p.L2277L Substitution - coding silent Soft_tissue COSM221058 KMT2D c.7501C>T p.R2501* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5026862 KMT2C c.3085G>A p.D1029N Substitution - Missense Breast COSM4072237 SETBP1 c.2180G>A p.R727Q Substitution - Missense Stomach COSM3637540 STK31 c.1198G>A p.G400R Substitution - Missense Skin COSM3832362 KMT2C c.5311C>T p.Q1771* Substitution - Nonsense Breast COSM3358484 PBRM1 c.4207_4208delGA p.D1403fs*18 Deletion - Frameshift Kidney COSM254541 ARID1A c.3634C>T p.Q1212* Substitution - Nonsense Endometrium COSM5447565 SMARCC1 c.321G>A p.K107K Substitution - coding silent Large_intestine COSM1122945 KDM5C c.2806C>T p.R936C Substitution - Missense Endometrium COSM1073481 EYA4 c.454C>A p.L152I Substitution - Missense Endometrium COSM4685802 FTO c.1306A>G p.T436A Substitution - Missense Large_intestine COSM3796883 DOT1L c.3018C>G p.L1006L Substitution - coding silent Urinary_tract COSM5646507 BRWD3 c.4687G>A p.D1563N Substitution - Missense Oesophagus COSM4622205 PHRF1 c.4442C>A p.P1481Q Substitution - Missense Large_intestine COSM4753614 MYST3 c.1139A>C p.E380A Substitution - Missense Oesophagus COSM4001534 SP100 c.1257G>A p.S419S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3390647 KDM6A c.1282C>T p.P428S Substitution - Missense Pancreas COSM271572 TRIM28 c.2111G>A p.C704Y Substitution - Missense Large_intestine COSM1341907 PHC2 c.1814_1815insGGGTT p.F605fs*128 Insertion - Frameshift Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1680469 MUM1 c.181G>T p.E61* Substitution - Nonsense Large_intestine COSM4991529 EP300 c.3396C>T p.N1132N Substitution - coding silent Skin COSM1104232 POLE3 c.158A>C p.N53T Substitution - Missense Endometrium COSM277248 SFMBT1 c.2238A>C p.I746I Substitution - coding silent Large_intestine COSM4663274 ARID2 c.5306G>A p.R1769Q Substitution - Missense Large_intestine COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3402555 PRDM7 c.218G>A p.R73Q Substitution - Missense Central_nervous_system COSM4807969 DMAP1 c.770G>A p.R257Q Substitution - Missense Pancreas COSM4107957 HCFC1 c.4571C>A p.A1524D Substitution - Missense Stomach COSM3447085 RAG2 c.1463T>C p.L488P Substitution - Missense Skin COSM1176695 BRD8 c.1591G>A p.A531T Substitution - Missense Endometrium COSM1192753 CBX5 c.317delA p.K106fs*31 Deletion - Frameshift Bone COSM3555263 PHF21B c.1384C>T p.L462L Substitution - coding silent Skin COSM1045447 SETD2 c.4037C>T p.S1346L Substitution - Missense Endometrium COSM1079995 CDYL c.134G>A p.S45N Substitution - Missense Endometrium COSM52790 PBRM1 c.4288+1G>T p.? Unknown Kidney COSM912517 RERE c.2129G>A p.S710N Substitution - Missense Endometrium COSM4973298 BAP1 c.1828A>T p.R610* Substitution - Nonsense Oesophagus COSM5006566 PBRM1 c.?_?del? p.?fs*? Deletion - Frameshift Kidney COSM4091162 BAP1 c.932-7G>T p.? Unknown Oesophagus COSM939990 KMT2D c.14279G>A p.R4760H Substitution - Missense Endometrium COSM1158244 SUV420H1 c.2333A>G p.K778R Substitution - Missense Pancreas COSM1716182 EZH2 c.? p.A692V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3799494 PHF20 c.1139C>T p.S380L Substitution - Missense Urinary_tract COSM2270986 EZH2 c.446_447delTA p.L149fs*5 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM270707 KDM2A c.2379G>T p.K793N Substitution - Missense Large_intestine COSM4775906 BRWD1 c.4754-5_4754-1delTCTAG p.? Unknown Haematopoietic_and_lymphoid_tissue COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2145472 ERCC6 c.1596T>C p.D532D Substitution - coding silent Upper_aerodigestive_tract COSM217231 SMARCB1 c.602G>T p.R201L Substitution - Missense Liver COSM4408043 MGA c.4106T>C p.V1369A Substitution - Missense Oesophagus COSM3329042 PRDM12 c.608G>A p.G203E Substitution - Missense Skin COSM1169580 PBRM1 c.3859G>A p.E1287K Substitution - Missense Biliary_tract COSM423358 PRMT6 c.253G>C p.E85Q Substitution - Missense Breast COSM3934672 PRDM16 c.1258C>T p.R420C Substitution - Missense Oesophagus COSM4475508 BAHD1 c.1995C>T p.L665L Substitution - coding silent Skin COSM5656383 CREBBP c.3233_3250+30del48 p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3546362 CHD6 c.4232A>G p.K1411R Substitution - Missense Skin COSM5424012 PHF2 c.2587C>A p.Q863K Substitution - Missense Prostate COSM3792911 CHD4 c.3223-1G>A p.? Unknown Urinary_tract COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Central_nervous_system COSM267409 SFMBT2 c.2097C>T p.F699F Substitution - coding silent Skin COSM3026299 STK31 c.1484T>C p.L495P Substitution - Missense Bone COSM129510 SUV420H1 c.2574G>C p.L858F Substitution - Missense Upper_aerodigestive_tract COSM231560 DNMT3A c.2206C>T p.R736C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4387478 EP300 c.6668A>C p.Q2223P Substitution - Missense Upper_aerodigestive_tract COSM52999 EZH2 c.2187_2188insT p.D730fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM908428 PHC2 c.1041A>T p.Q347H Substitution - Missense Endometrium COSM1173512 TAF1L c.3293C>T p.S1098L Substitution - Missense Oesophagus COSM3848625 KIAA2026_ENST00000399933 c.6165G>T p.L2055F Substitution - Missense Breast COSM3546353 CHD6 c.7470C>T p.I2490I Substitution - coding silent Breast COSM5757556 PHF8 c.1906C>T p.P636S Substitution - Missense Large_intestine COSM231560 DNMT3A c.2206C>T p.R736C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM126103 SETD1A c.1472G>T p.R491L Substitution - Missense Upper_aerodigestive_tract COSM1449456 KMT2C c.3155A>G p.K1052R Substitution - Missense Large_intestine COSM4775569 KMT2D c.13114G>A p.V4372I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1413183 ZGPAT c.886G>A p.A296T Substitution - Missense Large_intestine COSM1180918 ASXL1 c.1927delG p.G645fs*58 Deletion - Frameshift Large_intestine COSM4031567 PRDM16 c.2996G>A p.R999Q Substitution - Missense Stomach COSM4756590 DPF2 c.715G>A p.E239K Substitution - Missense Stomach COSM4590050 PRDM10 c.1332A>C p.E444D Substitution - Missense Bone COSM219100 ASXL1 c.? p.C730* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3835474 KDM4B c.2248G>A p.G750S Substitution - Missense Breast COSM326519 SMNDC1 c.184G>C p.D62H Substitution - Missense Lung COSM4590784 ATF7IP c.2647C>A p.Q883K Substitution - Missense Upper_aerodigestive_tract COSM3392716 SMARCA5 c.431G>A p.R144H Substitution - Missense Pancreas COSM5508247 MECP2 c.710delG p.G237fs*11 Deletion - Frameshift Biliary_tract COSM190399 BRD7 c.1834C>T p.R612* Substitution - Nonsense Endometrium COSM37029 EZH2 c.1937A>C p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4025607 TDRD5 c.795G>A p.E265E Substitution - coding silent Stomach COSM5423009 PHF8 c.1631A>G p.N544S Substitution - Missense Prostate COSM4881835 ZMYM6 c.82G>T p.D28Y Substitution - Missense Upper_aerodigestive_tract COSM5051634 KMT2D c.9794A>T p.H3265L Substitution - Missense Stomach COSM275659 KDM3B c.4398C>T p.F1466F Substitution - coding silent Large_intestine COSM4436363 KMT2D c.14540G>A p.C4847Y Substitution - Missense Oesophagus COSM452706 KMT2C c.6051_6052insT p.Q2018fs*7 Insertion - Frameshift Breast COSM1726920 EP400 c.6965C>T p.T2322I Substitution - Missense Liver COSM125339 PHF3 c.2398A>G p.M800V Substitution - Missense Upper_aerodigestive_tract COSM4588878 KDM4C c.3015A>T p.R1005R Substitution - coding silent Bone COSM371188 KMT2C c.2383G>T p.D795Y Substitution - Missense Lung COSM1708716 GLYR1 c.268C>T p.L90F Substitution - Missense Skin COSM1686642 TDRD1 c.697-1G>A p.? Unknown Skin COSM5657061 KDM5A c.5074A>G p.K1692E Substitution - Missense Soft_tissue COSM4384259 EZH2 c.1976delG p.R659fs*16 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5599590 GABRG1 c.490C>T p.P164S Substitution - Missense Skin COSM144575 PHF6 c.76_95>TTGG p.K26fs*50 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM5986523 KMT2D c.4407_4408insC p.A1470fs*8 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5052637 LMNA c.1016C>T p.A339V Substitution - Missense Stomach COSM267218 POGZ c.2350C>T p.R784* Substitution - Nonsense Large_intestine COSM953998 MTA1 c.602C>T p.A201V Substitution - Missense Endometrium COSM4162523 TRRAP c.9407A>C p.N3136T Substitution - Missense Thyroid COSM5792878 ARID2 c.3905C>T p.S1302L Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1261006 PBRM1 c.3692-1G>T p.? Unknown Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4386755 SMARCA1 c.548T>G p.L183R Substitution - Missense Lung COSM3226828 SIRT6 c.590T>C p.L197P Substitution - Missense Large_intestine COSM289244 TDRKH c.442C>T p.R148C Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM228110 KMT2C c.1042G>A p.D348N Substitution - Missense Soft_tissue COSM5493519 KDM6B c.3043C>T p.R1015C Substitution - Missense Biliary_tract COSM937192 EP400 c.8996C>T p.A2999V Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM3738476 TET2 c.? p.L199fs*3 Frameshift Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM907746 ARID1A c.5791G>T p.E1931* Substitution - Nonsense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM150037 CDYL c.25T>C p.S9P Substitution - Missense Large_intestine COSM4061196 CHD9 c.2677A>G p.I893V Substitution - Missense Stomach COSM1618134 SETD5_ENST00000402198 c.417G>A p.W139* Substitution - Nonsense Liver COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM5879930 KDM6A c.1241_1242insG p.L415fs*4 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM260287 CREBBP c.5470G>A p.A1824T Substitution - Missense Biliary_tract COSM5835177 TCF19 c.73_74insC p.G26fs*16 Insertion - Frameshift Breast COSM5778529 MYST3 c.5793G>A p.M1931I Substitution - Missense Breast COSM396169 EYA4 c.615G>T p.E205D Substitution - Missense Lung COSM30577 SMARCA4 c.2653C>T p.R885C Substitution - Missense Large_intestine COSM418527 BAZ2B c.775G>A p.G259S Substitution - Missense Urinary_tract COSM5945528 ATRX c.6871A>G p.I2291V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM323543 SP140_ENST00000392045 c.60-2A>T p.? Unknown Lung COSM4169924 CHD8 c.2463G>A p.W821* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM2952950 INTS12 c.41delT p.L14fs*1 Deletion - Frameshift Large_intestine COSM2920042 CREBBP c.1488C>T p.P496P Substitution - coding silent Skin COSM5691165 SUV420H1 c.2479G>T p.D827Y Substitution - Missense Soft_tissue COSM24595 SMARCB1 c.157C>T p.R53* Substitution - Nonsense Central_nervous_system COSM88805 TET2 c.? p.S1486* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1603170 PWWP2B c.511C>A p.L171M Substitution - Missense Liver COSM5430394 DNMT3A c.254C>T p.S85L Substitution - Missense Oesophagus COSM3926858 KIAA2026_ENST00000399933 c.2040G>A p.M680I Substitution - Missense Skin COSM3304576 KMT2C c.1122G>A p.A374A Substitution - coding silent Stomach COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24918 HNF1A c.618G>C p.W206C Substitution - Missense Liver COSM41650 TET2 c.3767G>A p.G1256D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM53196 TET2 c.(5187_5190)del1 p.D1730fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Pancreas COSM93952 BAP1 c.836C>T p.S279L Substitution - Missense Ovary COSM96389 ASXL1 c.2356A>G p.R786G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96412 CREBBP c.1399G>A p.A467T Substitution - Missense Ovary COSM133737 DNMT3A c.2207G>A p.R736H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Upper_aerodigestive_tract COSM159184 ARID4B c.2658A>G p.R886R Substitution - coding silent Breast COSM149376 SETD2 c.4376C>T p.P1459L Substitution - Missense Stomach COSM211638 TET2 c.2747_2748insA p.Q917fs*7 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM233509 STK31 c.1092G>A p.M364I Substitution - Missense Skin COSM225109 TAF1 c.2527C>T p.R843W Substitution - Missense Skin COSM225744 NCOR1 c.5263C>T p.R1755C Substitution - Missense Skin COSM225822 PRDM16 c.2170G>T p.A724S Substitution - Missense Skin COSM244643 GABRG1 c.1191G>A p.P397P Substitution - coding silent Prostate COSM255125 MEN1 c.491_493delCCT p.A164_C165>G Complex - deletion inframe Parathyroid COSM255036 ZMYND8 c.1693C>T p.L565F Substitution - Missense Urinary_tract COSM298325 ARID1A c.3978_3980delGCA p.Q1334delQ Deletion - In frame Bone COSM295089 KMT2D c.14413G>A p.G4805R Substitution - Missense Large_intestine COSM307120 SETD8 c.267C>T p.A89A Substitution - coding silent Prostate COSM346909 ACTB c.382A>G p.N128D Substitution - Missense Lung COSM365409 NCOA2 c.3523G>T p.G1175C Substitution - Missense Lung COSM360434 MYST3 c.1123G>T p.A375S Substitution - Missense Lung COSM356973 PHF21B c.246C>T p.L82L Substitution - coding silent Lung COSM379334 WHSC1 c.3295G>A p.E1099K Substitution - Missense Lung COSM396763 SMARCC1 c.1141G>A p.E381K Substitution - Missense Lung COSM416755 CHD2 c.4819C>T p.H1607Y Substitution - Missense Urinary_tract COSM436137 RAI1 c.1435C>T p.Q479* Substitution - Nonsense Breast COSM430522 HNF1A c.79A>C p.I27L Substitution - Missense Soft_tissue COSM988953 MBD2 c.865G>T p.G289* Substitution - Nonsense Endometrium COSM984414 ZBTB4 c.1933G>A p.E645K Substitution - Missense Skin COSM484586 MLL5 c.5037A>C p.P1679P Substitution - coding silent Kidney COSM483595 JARID2 c.1155A>T p.K385N Substitution - Missense Kidney COSM589516 BRD8 c.3488G>A p.R1163H Substitution - Missense Stomach COSM692223 EP400 c.6106G>A p.D2036N Substitution - Missense Lung COSM1049743 TET2 c.427G>T p.D143Y Substitution - Missense Pancreas COSM1027970 ADNP c.1865C>T p.T622I Substitution - Missense Endometrium COSM707528 BPTF c.5861T>G p.I1954R Substitution - Missense Lung COSM1067087 PRDM9 c.1686C>A p.S562R Substitution - Missense Endometrium COSM1055644 GABRG1 c.673G>A p.V225I Substitution - Missense Endometrium COSM1108218 TAF1L c.4382G>A p.R1461Q Substitution - Missense Endometrium COSM1130582 DIDO1 c.2892C>T p.S964S Substitution - coding silent Skin COSM1095756 ATAD2 c.2375G>A p.R792Q Substitution - Missense Endometrium COSM1079892 TDRD6 c.2540T>G p.V847G Substitution - Missense Endometrium COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1246286 BTAF1 c.4727G>A p.R1576H Substitution - Missense Oesophagus COSM1230821 TTF2 c.2198G>A p.R733Q Substitution - Missense Stomach COSM1242507 MGA c.7407G>A p.A2469A Substitution - coding silent Oesophagus COSM1162748 BRD9 c.928A>T p.M310L Substitution - Missense Pancreas COSM1180098 KMT2C c.1005T>A p.P335P Substitution - coding silent Soft_tissue COSM1216524 MYST3 c.2096T>C p.I699T Substitution - Missense Large_intestine COSM1189167 CREBBP c.2965G>T p.G989* Substitution - Nonsense Lung COSM1291474 ATAD2B_ENST00000238789 c.2227T>G p.S743A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1296802 MTF2 c.1698A>G p.E566E Substitution - coding silent Urinary_tract COSM1301961 CREBBP c.1996G>C p.E666Q Substitution - Missense Urinary_tract COSM1447555 ING3 c.706A>G p.T236A Substitution - Missense Large_intestine COSM1349797 BTAF1 c.2417C>A p.A806D Substitution - Missense Large_intestine COSM1562919 TP53BP1 c.3712C>T p.R1238C Substitution - Missense Upper_aerodigestive_tract COSM1471738 SMARCA5 c.854C>T p.T285I Substitution - Missense Prostate COSM1617864 BAP1 c.807_808insAG p.L270fs*2 Insertion - Frameshift Liver COSM1623347 TRRAP c.1530G>C p.P510P Substitution - coding silent Liver COSM1632483 BRWD1 c.4485T>C p.G1495G Substitution - coding silent Liver COSM1671900 KDM3B c.3899G>T p.G1300V Substitution - Missense Kidney COSM1676100 MTA2 c.311G>A p.G104E Substitution - Missense Large_intestine COSM1679475 ZBTB4 c.766T>C p.C256R Substitution - Missense Large_intestine COSM1679709 SUZ12 c.1702A>G p.S568G Substitution - Missense Large_intestine COSM1713385 NCOA6 c.1391C>T p.P464L Substitution - Missense Skin COSM1713782 DIDO1 c.4037C>T p.P1346L Substitution - Missense Skin COSM1664512 TDRD6 c.3064T>G p.L1022V Substitution - Missense Kidney COSM1743118 CTCF c.1890A>G p.V630V Substitution - coding silent Biliary_tract COSM1724995 TET2 c.4541delT p.L1515fs*56 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2182754 SETDB1 c.2621delC p.C876fs*8 Deletion - Frameshift Large_intestine COSM2098397 CHD4 c.4107T>C p.A1369A Substitution - coding silent Upper_aerodigestive_tract COSM2813387 CARM1 c.1802C>T p.T601I Substitution - Missense Large_intestine COSM2859913 TIF1 c.2197A>G p.S733G Substitution - Missense Large_intestine COSM3108932 GTF3C1 c.1395G>A p.S465S Substitution - coding silent Liver COSM3112860 SRCAP c.2505delT p.L837fs*46 Deletion - Frameshift Large_intestine COSM3361408 TP53BP1 c.2924C>T p.S975F Substitution - Missense Kidney COSM3379637 HDAC6 c.2325C>T p.I775I Substitution - coding silent Pancreas COSM3396082 BAZ2A_ENST00000379441 c.4578G>T p.Q1526H Substitution - Missense Prostate COSM3461567 KMT2D c.6606C>G p.P2202P Substitution - coding silent Skin COSM3461794 SMARCD1 c.784C>T p.L262L Substitution - coding silent Skin COSM3567455 MBD5 c.2933C>T p.P978L Substitution - Missense Skin COSM3526243 CXXC1 c.307C>T p.R103W Substitution - Missense Skin COSM3514565 NCOR1 c.1082+2T>G p.? Unknown Skin COSM3529595 BRD4 c.1409C>T p.S470F Substitution - Missense Skin COSM3643074 ZCWPW1 c.1567C>T p.P523S Substitution - Missense Skin COSM3665807 JMJD1C c.1022A>G p.D341G Substitution - Missense Liver COSM3719014 PHF6 c.866C>A p.T289N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3709083 ATF2 c.228G>A p.L76L Substitution - coding silent Liver COSM3711584 ARID4A c.2989C>T p.P997S Substitution - Missense Upper_aerodigestive_tract COSM3780993 KMT2D c.4510-2A>G p.? Unknown Pancreas COSM3804823 ARID1A c.6313A>C p.T2105P Substitution - Missense Breast COSM3816026 MGA c.424T>G p.W142G Substitution - Missense Breast COSM3816140 TP53BP1 c.1904C>T p.S635F Substitution - Missense Breast COSM3811500 EP400 c.4001A>C p.H1334P Substitution - Missense Breast COSM3911201 PHF20 c.2535C>T p.R845R Substitution - coding silent Skin COSM3914072 KDM5C c.3447C>T p.A1149A Substitution - coding silent Skin COSM3871730 KMT2D c.10290C>T p.F3430F Substitution - coding silent Skin COSM3957563 CREBBP c.5604G>A p.R1868R Substitution - coding silent Lung COSM4039424 HNF1A c.522G>A p.A174A Substitution - coding silent Stomach COSM4054506 RTF1 c.1741C>T p.R581* Substitution - Nonsense Large_intestine COSM4042401 KMT2D c.2876C>T p.P959L Substitution - Missense Prostate COSM3992484 KDM6A c.223A>T p.K75* Substitution - Nonsense Kidney COSM4080149 PRMT1 c.825C>T p.T275T Substitution - coding silent Stomach COSM4100205 DIDO1 c.943A>G p.I315V Substitution - Missense Stomach COSM4124015 WHSC1 c.3681G>A p.R1227R Substitution - coding silent Stomach COSM4119159 PBRM1 c.2569A>G p.T857A Substitution - Missense Stomach COSM4070312 CBX8 c.106T>C p.S36P Substitution - Missense Stomach COSM4139311 ZCWPW1 c.1404G>T p.E468D Substitution - Missense Thyroid COSM4147993 CHD8 c.6886C>A p.L2296M Substitution - Missense Thyroid COSM4161998 KMT2C c.2726G>A p.R909K Substitution - Missense Upper_aerodigestive_tract COSM4170101 TET2 c.5319delC p.F1773fs*47 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4304717 BAZ2B c.3891T>C p.S1297S Substitution - coding silent Large_intestine COSM4384778 KDM2B c.2643G>T p.K881N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4389081 KMT2C c.7237G>A p.A2413T Substitution - Missense Pancreas COSM4400253 PRDM9 c.1248C>T p.F416F Substitution - coding silent Skin COSM4408969 SMARCA2 c.4638C>G p.D1546E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4603241 KDM6B c.761_762insACCACC p.P264_L265insPP Insertion - In frame Upper_aerodigestive_tract COSM4515820 KIAA1045 c.132_133CC>TA p.R45S Substitution - Missense Skin COSM4563945 SFMBT2 c.997G>A p.V333M Substitution - Missense Skin COSM4495418 KMT2D c.3719C>T p.P1240L Substitution - Missense Skin COSM4585864 NIPBL c.2772C>T p.N924N Substitution - coding silent Bone COSM4502813 MGA c.6377C>T p.S2126F Substitution - Missense Skin COSM4466465 MTF2 c.1436C>T p.S479F Substitution - Missense Skin COSM4411743 SMARCC2 c.3284C>T p.S1095F Substitution - Missense Oesophagus COSM4692523 INOC1 c.1339T>G p.F447V Substitution - Missense Large_intestine COSM4695052 KDM6B c.1063delC p.G357fs*130 Deletion - Frameshift Large_intestine COSM4725131 SETBP1 c.2594T>A p.I865N Substitution - Missense Large_intestine COSM4665043 BAG6 c.275C>G p.T92S Substitution - Missense Large_intestine COSM4632532 SIRT1 c.408G>A p.A136A Substitution - coding silent Large_intestine COSM4610936 KMT2D c.8093delC p.P2698fs*36 Deletion - Frameshift Large_intestine COSM4653704 SMARCC1 c.879T>C p.P293P Substitution - coding silent Large_intestine COSM4607468 SUV39H2 c.425G>T p.C142F Substitution - Missense Adrenal_gland COSM4766751 KIAA2026_ENST00000399933 c.2704_2705delGA p.E902fs*7 Deletion - Frameshift Stomach COSM4758806 BRDT c.1007A>C p.K336T Substitution - Missense Large_intestine COSM4791474 BAZ1A c.3319C>T p.R1107C Substitution - Missense Liver COSM4957735 SMCHD1 c.3239A>G p.Q1080R Substitution - Missense Liver COSM4999542 EP400 c.5913C>A p.C1971* Substitution - Nonsense Pancreas COSM4993577 ATRX c.7412C>T p.P2471L Substitution - Missense Skin COSM5139748 PHF21B c.442delG p.V148fs*136 Deletion - Frameshift Large_intestine COSM5351844 TAF1 c.185G>A p.C62Y Substitution - Missense Kidney COSM5404877 KDM1B c.265G>A p.E89K Substitution - Missense Skin COSM5373760 TRIM66 c.1127G>A p.S376N Substitution - Missense Skin COSM5491744 ACTL6A c.1213A>G p.T405A Substitution - Missense Biliary_tract COSM5479140 CHD9 c.4707G>A p.Q1569Q Substitution - coding silent Large_intestine COSM5720696 PHF3 c.776C>T p.S259L Substitution - Missense Skin COSM5739305 MEN1 c.1567G>A p.A523T Substitution - Missense Small_intestine COSM5719460 RBBP5 c.736C>T p.Q246* Substitution - Nonsense Skin COSM5672397 WDR5 c.672G>A p.P224P Substitution - coding silent Soft_tissue COSM5556264 SETBP1 c.3634C>T p.H1212Y Substitution - Missense Prostate COSM5547418 TDRD6 c.6019_6021delAAT p.N2008delN Deletion - In frame Prostate COSM5569702 KMT2D c.8044A>C p.T2682P Substitution - Missense Prostate COSM5878772 DNMT3A c.2163G>C p.K721N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5879003 TET2 c.3107_3114delACGCCAAG p.H1036fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5944264 TET2 c.1826delC p.N610fs*29 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5944294 TET2 c.4920delC p.D1640fs*55 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5910132 ARID1A c.1351-1G>A p.? Unknown Skin COSM5935876 ING4 c.38-6C>T p.? Unknown Skin COSM5900018 NIPBL c.3452C>T p.P1151L Substitution - Missense Skin COSM5963709 RBBP5 c.454G>T p.D152Y Substitution - Missense Breast COSM5979525 MYST3 c.2689G>C p.E897Q Substitution - Missense Upper_aerodigestive_tract COSM5972926 SIRT2 c.768C>G p.L256L Substitution - coding silent Upper_aerodigestive_tract COSM6008989 KMT2C c.849+1G>A p.? Unknown Large_intestine COSM5969559 RERE c.3847C>T p.P1283S Substitution - Missense Upper_aerodigestive_tract COSM1666934 TET2 c.? p.M600V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34201 MSH6 c.? p.? Unknown Endometrium COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM1737973 BAP1 c.? p.L96_N102del Deletion - In frame Eye COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4989873 SETD2 c.? p.V1732L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52901 PBRM1 c.748A>T p.K250* Substitution - Nonsense Kidney COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52991 DNMT3A c.? p.A368D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1299789 CHD4 c.4405G>C p.E1469Q Substitution - Missense Urinary_tract COSM87889 ARID1A c.1015delG p.A339fs*24 Deletion - Frameshift Central_nervous_system COSM4387419 BAP1 c.10_27del18 p.G4_E9del Deletion - In frame Eye COSM1108 SMARCB1 c.? p.? Unknown Soft_tissue COSM1740806 ATRX c.736C>T p.R246C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5969584 BRDT c.608C>T p.T203I Substitution - Missense Upper_aerodigestive_tract COSM5894926 RNF134 c.178C>T p.R60W Substitution - Missense Skin COSM5820729 TIF1 c.1872C>G p.V624V Substitution - coding silent Liver COSM87117 TET2 c.3409+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1489407 NCOA2 c.703C>A p.P235T Substitution - Missense Breast COSM2909134 HDAC4 c.2111G>A p.R704H Substitution - Missense Large_intestine COSM1240654 WHSC1 c.3325G>A p.A1109T Substitution - Missense Stomach COSM3437327 EPC1 c.2099G>A p.S700N Substitution - Missense Skin COSM5511017 SMARCA4 c.1561C>T p.R521W Substitution - Missense Biliary_tract COSM2919990 CREBBP c.3506G>A p.R1169H Substitution - Missense Skin COSM352258 TAF1L c.1600G>C p.D534H Substitution - Missense Lung COSM5567893 EYA1 c.800G>A p.S267N Substitution - Missense Prostate COSM4120589 SETD5_ENST00000402198 c.2799A>C p.R933S Substitution - Missense Stomach COSM230133 KMT2C c.1173C>A p.C391* Substitution - Nonsense Upper_aerodigestive_tract COSM4387579 PHF20L1 c.256-9T>G p.? Unknown Pancreas COSM4023068 ASH1L c.1243G>T p.G415C Substitution - Missense Stomach COSM3733531 SMYD1 c.709C>T p.R237W Substitution - Missense Pancreas COSM5572880 ZCWPW2 c.278A>T p.Y93F Substitution - Missense Prostate COSM3657705 KIAA2026_ENST00000399933 c.1025C>T p.S342L Substitution - Missense Skin COSM3849506 PHRF1 c.1423G>A p.A475T Substitution - Missense Prostate COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4634541 ZMYND8 c.2512G>A p.V838M Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4496801 TCF20 c.482C>T p.S161F Substitution - Missense Skin COSM3717890 ASXL3 c.664A>G p.I222V Substitution - Missense Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM924949 PRDM10 c.1988C>T p.S663L Substitution - Missense Large_intestine COSM22009 NCOA7 c.2699G>A p.R900Q Substitution - Missense Lung COSM30719 ASH2L c.175G>A p.E59K Substitution - Missense Lung COSM275660 KDM5A c.4150G>A p.E1384K Substitution - Missense Large_intestine COSM4716362 POGZ c.859+2T>C p.? Unknown Large_intestine COSM1125436 ATRX c.4450C>A p.L1484I Substitution - Missense Endometrium COSM1464311 TDRD7 c.2159G>A p.R720Q Substitution - Missense Oesophagus COSM4674655 CREBBP c.1669G>A p.A557T Substitution - Missense Large_intestine COSM1086202 JHDM1D c.1588C>A p.L530I Substitution - Missense Endometrium COSM5970921 ZMYM2 c.265A>G p.N89D Substitution - Missense Upper_aerodigestive_tract COSM5608139 CREBBP c.5061C>T p.S1687S Substitution - coding silent Skin COSM5741326 MBD3 c.5A>G p.E2G Substitution - Missense Small_intestine COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM5997727 KMT2C c.7282G>A p.V2428I Substitution - Missense Prostate COSM4587101 SND1 c.2178C>T p.G726G Substitution - coding silent Bone COSM1027531 ZMYND8 c.853A>G p.K285E Substitution - Missense Endometrium COSM4595028 KMT2C c.2681G>A p.R894Q Substitution - Missense Skin COSM4014451 ERCC6 c.1801G>A p.G601S Substitution - Missense Stomach COSM3381500 ARID1B c.5006T>G p.F1669C Substitution - Missense Pancreas COSM4450207 BAZ2A_ENST00000379441 c.4899-1G>T p.? Unknown Skin COSM5885002 SCML2 c.1253G>A p.R418H Substitution - Missense Large_intestine COSM5969358 HDAC1 c.766G>A p.A256T Substitution - Missense Upper_aerodigestive_tract COSM1239175 JARID2 c.1266delG p.R425fs*36 Deletion - Frameshift Large_intestine COSM306066 STK31 c.1140C>T p.V380V Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3750192 PHF2 c.2964G>T p.P988P Substitution - coding silent Large_intestine COSM3751737 EPC1 c.861G>A p.M287I Substitution - Missense Large_intestine COSM132998 ARID1A c.4689_4689delC p.M1564fs*1 Deletion - Frameshift Large_intestine COSM5062864 ATAD2 c.2794T>A p.F932I Substitution - Missense Stomach COSM1348064 ERCC6 c.4328G>A p.G1443D Substitution - Missense Large_intestine COSM5596928 KIAA2026_ENST00000399933 c.5798C>T p.S1933F Substitution - Missense Skin COSM87012 DNMT3A c.1903C>T p.R635W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1284066 CDYL2 c.462C>T p.N154N Substitution - coding silent Central_nervous_system COSM5032701 KDM4D c.1023C>A p.D341E Substitution - Missense Oesophagus COSM468374 ARID2 c.94T>A p.S32T Substitution - Missense Kidney COSM3740293 BRWD1 c.6173G>C p.S2058T Substitution - Missense Liver COSM5461311 MYST3 c.4645G>A p.G1549S Substitution - Missense Large_intestine COSM5746590 TDRD6 c.1309G>A p.V437I Substitution - Missense Breast COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5967271 CHD2 c.686_686delA p.N229fs*20 Deletion - Frameshift Salivary_gland COSM1250490 DNMT1 c.276G>T p.L92F Substitution - Missense Oesophagus COSM3896551 ATAD2 c.3215G>A p.R1072H Substitution - Missense Stomach COSM4162024 KMT2C c.946A>T p.T316S Substitution - Missense Upper_aerodigestive_tract COSM1578825 CHD4 c.2867G>A p.R956Q Substitution - Missense Meninges COSM1641364 ZMYND8 c.1964delA p.K655fs*14 Deletion - Frameshift Large_intestine COSM3660882 PHF17 c.1622-3T>G p.? Unknown Liver COSM970125 MYST1 c.418C>T p.R140C Substitution - Missense Salivary_gland COSM4162024 KMT2C c.946A>T p.T316S Substitution - Missense Upper_aerodigestive_tract COSM1744343 SETD1A c.3580C>A p.P1194T Substitution - Missense Biliary_tract COSM990752 SMARCA4 c.3046G>A p.V1016M Substitution - Missense Stomach COSM78475 SETDB2 c.1172C>A p.T391K Substitution - Missense Ovary COSM5416901 TRIM24 c.662T>C p.V221A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1496295 BAG6 c.751G>A p.A251T Substitution - Missense Kidney COSM4753584 EP300 c.5380A>G p.K1794E Substitution - Missense Stomach COSM4918062 ZCWPW1 c.1158G>A p.E386E Substitution - coding silent Liver COSM230755 ZBTB4 c.1436C>T p.P479L Substitution - Missense Skin COSM399442 EPC2 c.1348G>T p.A450S Substitution - Missense Lung COSM4602491 EP300 c.6221T>C p.L2074P Substitution - Missense Upper_aerodigestive_tract COSM36167 ASXL1 c.2423delC p.P808fs*10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5623563 PRDM16 c.1061G>C p.R354P Substitution - Missense Oesophagus COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Bone COSM259541 ATAD2B_ENST00000238789 c.524G>T p.R175I Substitution - Missense Large_intestine COSM3763347 MYST3 c.4455C>T p.S1485S Substitution - coding silent Soft_tissue COSM39850 ARID1A c.1241G>A p.G414E Substitution - Missense Central_nervous_system COSM3471961 TTF2 c.1139C>G p.T380R Substitution - Missense Skin COSM3915318 MECOM c.1527C>T p.L509L Substitution - coding silent Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5019655 TRIM24 c.2925C>T p.N975N Substitution - coding silent Soft_tissue COSM211700 TET2 c.3139_3140insA p.T1047fs*11 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM357563 NCOA1 c.2899G>A p.D967N Substitution - Missense Lung COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3390707 SMC1A c.2317G>A p.E773K Substitution - Missense Pancreas COSM3578911 SP140_ENST00000392045 c.2007G>A p.R669R Substitution - coding silent Skin COSM1385954 PHF23 c.1072C>A p.L358M Substitution - Missense Large_intestine COSM5666583 ATAD2B_ENST00000238789 c.3422G>T p.R1141I Substitution - Missense Soft_tissue COSM3108890 GTF3C1 c.3220_3221ins18 p.S1073_L1074insRDEEGS Insertion - In frame Large_intestine COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM397998 AICDA c.221G>T p.R74L Substitution - Missense Lung COSM384248 KMT2A c.6696C>T p.T2232T Substitution - coding silent Prostate COSM1615600 CHD6 c.1962T>G p.A654A Substitution - coding silent Liver COSM1363039 SMARCC2 c.3128delC p.P1043fs*18 Deletion - Frameshift Stomach COSM2007213 KMT2D c.4010_4011insA p.R1338fs*20 Insertion - Frameshift Large_intestine COSM5353466 PRDM2 c.4886C>T p.A1629V Substitution - Missense Large_intestine COSM4992829 TRIM24 c.1594C>T p.P532S Substitution - Missense Skin COSM3934148 HDGF c.52G>A p.A18T Substitution - Missense Oesophagus COSM5585297 GATAD2A c.1440C>T p.P480P Substitution - coding silent Skin COSM3589848 MECOM c.2286-1G>C p.? Unknown Skin COSM4581746 NCOA6 c.1271C>G p.T424S Substitution - Missense Bone COSM3636372 SMARCD3 c.696C>T p.D232D Substitution - coding silent Skin COSM2813674 SMARCA4 c.2832C>G p.N944K Substitution - Missense Oesophagus COSM3557677 SMARCA1 c.2587C>T p.R863* Substitution - Nonsense Skin COSM132893 TET2 c.1020_1020delC p.Q341fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34192 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM110780 TET2 c.3862G>A p.G1288S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM307767 ASXL1 c.1902_1924del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1132081 CHD1 c.5043G>A p.Q1681Q Substitution - coding silent Prostate COSM1000721 EZH2 c.862C>T p.R288* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM126102 SETBP1 c.3880G>C p.D1294H Substitution - Missense Upper_aerodigestive_tract COSM4878226 DNMT3B c.179T>C p.V60A Substitution - Missense Prostate COSM4754253 PHF21A c.1714G>T p.V572L Substitution - Missense Stomach COSM5508874 INOC1 c.4366A>T p.S1456C Substitution - Missense Biliary_tract COSM4144075 ORC1 c.2400T>C p.S800S Substitution - coding silent Thyroid COSM4144890 TAF3 c.2517T>G p.S839R Substitution - Missense Thyroid COSM1756797 CHD4 c.5437C>T p.H1813Y Substitution - Missense Urinary_tract COSM3906836 TAF1L c.4860C>T p.Y1620Y Substitution - coding silent Stomach COSM3450132 GLYATL1 c.319C>T p.R107C Substitution - Missense Skin COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4725130 SETBP1 c.1990delA p.T665fs*5 Deletion - Frameshift Large_intestine COSM100082 KMT2C c.8390_8390delA p.K2797fs*26 Deletion - Frameshift Large_intestine COSM1559373 HNF1A c.1545G>A p.T515T Substitution - coding silent Soft_tissue COSM936048 KDM2B c.329G>A p.R110K Substitution - Missense Endometrium COSM983313 BPTF c.2867G>A p.R956Q Substitution - Missense Endometrium COSM3741212 EYA3 c.1143C>T p.S381S Substitution - coding silent Liver COSM5477519 TTF2 c.2574T>G p.F858L Substitution - Missense Large_intestine COSM5582746 TET2 c.2785C>T p.P929S Substitution - Missense Skin COSM1625980 KDM5C c.3160C>A p.L1054I Substitution - Missense Liver COSM446861 SFMBT1 c.224C>T p.T75I Substitution - Missense Breast COSM5618238 PRDM15 c.4127C>G p.T1376S Substitution - Missense Breast COSM3682842 CDY1B c.1256C>G p.T419S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM472371 RAI1 c.3850G>A p.G1284S Substitution - Missense Kidney COSM4958522 SUZ12 c.1202-1G>A p.? Unknown Liver COSM460549 CREBBP c.4627G>C p.D1543H Substitution - Missense Cervix COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1286209 KMT2D c.15703G>A p.G5235R Substitution - Missense Autonomic_ganglia COSM5967275 KMT2D c.6395C>G p.S2132* Substitution - Nonsense Salivary_gland COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4101603 BRWD1 c.2519C>T p.S840L Substitution - Missense Stomach COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3729940 ARID1B c.5413delG p.G1806fs*27 Deletion - Frameshift Stomach COSM52795 PBRM1 c.3007_3013delGAAACAT p.E1003fs*9 Deletion - Frameshift Kidney COSM3433015 EHMT1 c.3474G>A p.A1158A Substitution - coding silent Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5725757 PHRF1 c.2690C>T p.P897L Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4776130 PRDM1 c.1925A>C p.K642T Substitution - Missense Soft_tissue COSM3397207 JMJD1C c.5061A>T p.Q1687H Substitution - Missense Central_nervous_system COSM4789052 BRD1 c.1064C>T p.A355V Substitution - Missense Liver COSM4097811 NCOA6 c.1533G>A p.M511I Substitution - Missense Stomach COSM2035008 GLYATL1 c.939C>A p.F313L Substitution - Missense Large_intestine COSM5351704 TET2 c.1308_1317del10 p.Y437fs*7 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3194748 AKAP1 c.856C>T p.P286S Substitution - Missense Large_intestine COSM5350342 CTCF c.1410T>G p.R470R Substitution - coding silent Lung COSM4773239 RAI1 c.4432C>A p.R1478R Substitution - coding silent Stomach COSM1045687 DHX30 c.1117G>A p.A373T Substitution - Missense Endometrium COSM21486 HNF1A c.872delC p.P291fs*51 Deletion - Frameshift Liver COSM282783 MGA c.822G>T p.K274N Substitution - Missense Large_intestine COSM758298 BRWD3 c.714T>C p.A238A Substitution - coding silent Lung COSM4829025 MGA c.2125G>A p.E709K Substitution - Missense Cervix COSM1716586 BAP1 c.1117-?_1250+?del p.? Unknown Pleura COSM381029 NIPBL c.3472G>C p.D1158H Substitution - Missense Lung COSM4642280 LMNB2 c.371T>C p.V124A Substitution - Missense Large_intestine COSM3650070 CHD7 c.3087C>T p.P1029P Substitution - coding silent Skin COSM1299429 KMT2D c.9874G>T p.E3292* Substitution - Nonsense Urinary_tract COSM4496218 KDM6B c.4707C>T p.D1569D Substitution - coding silent Prostate COSM5635060 ARID2 c.5426C>T p.S1809F Substitution - Missense Oesophagus COSM5516756 KDM6B c.2889C>T p.G963G Substitution - coding silent Biliary_tract COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM5666695 PRDM9 c.2399G>A p.G800E Substitution - Missense Soft_tissue COSM3415169 JMJD1C c.2414G>A p.R805Q Substitution - Missense Large_intestine COSM988845 MBD1 c.64C>T p.R22C Substitution - Missense Endometrium COSM720287 SP100 c.862T>C p.S288P Substitution - Missense Lung COSM6016443 PHF23 c.30C>T p.P10P Substitution - coding silent Skin COSM5026080 PHC3 c.2883G>A p.L961L Substitution - coding silent Breast COSM5387303 ZBTB4 c.2983C>T p.P995S Substitution - Missense Skin COSM5990680 ARID2 c.3992G>A p.G1331D Substitution - Missense Liver COSM4152836 KMT2D c.9421+8C>T p.? Unknown Kidney COSM1641340 ACTR5 c.620A>C p.N207T Substitution - Missense Stomach COSM419228 BRWD1 c.2905C>T p.R969* Substitution - Nonsense Large_intestine COSM419228 BRWD1 c.2905C>T p.R969* Substitution - Nonsense Endometrium COSM5636359 TAF3 c.1875A>G p.K625K Substitution - coding silent Oesophagus COSM2259863 BRDT c.2082C>T p.C694C Substitution - coding silent Large_intestine COSM1627080 KDM4A c.2363C>T p.A788V Substitution - Missense Liver COSM5501243 CXXC1 c.3+1G>T p.? Unknown Biliary_tract COSM3877893 SND1 c.1145A>G p.N382S Substitution - Missense Stomach COSM4641110 KDM6B c.712A>G p.T238A Substitution - Missense Upper_aerodigestive_tract COSM5785827 AP001011.3_ENST00000320876 c.2357G>A p.G786E Substitution - Missense Breast COSM88780 EP300 c.4189T>C p.Y1397H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5780719 KMT2D c.6682C>G p.L2228V Substitution - Missense Breast COSM1490058 KIAA2026_ENST00000399933 c.662G>T p.G221V Substitution - Missense Breast COSM279204 BRDT c.1460+9C>A p.? Unknown Large_intestine COSM1180774 KDM5A c.3597delA p.G1200fs*9 Deletion - Frameshift Large_intestine COSM232660 L3MBTL4 c.1258C>T p.R420C Substitution - Missense Skin COSM3065116 HDAC10 c.1608G>A p.A536A Substitution - coding silent Large_intestine COSM3899938 ASH2L c.1478C>A p.P493H Substitution - Missense Stomach COSM325599 KDM4A c.1903G>T p.A635S Substitution - Missense Lung COSM4916255 KMT2C c.952C>A p.Q318K Substitution - Missense Liver COSM4789104 L3MBTL3 c.1081A>T p.N361Y Substitution - Missense Liver COSM5910927 JMJD6 c.640C>T p.P214S Substitution - Missense Skin COSM3984295 ASH1L c.7178A>G p.N2393S Substitution - Missense Kidney COSM700912 PYGO1 c.507C>T p.V169V Substitution - coding silent Lung COSM3994702 ARID1B c.5271G>A p.K1757K Substitution - coding silent Kidney COSM5611706 SETD2 c.3436G>C p.G1146R Substitution - Missense Adrenal_gland COSM4914990 NSD1 c.291T>G p.F97L Substitution - Missense Liver COSM1673881 MYST3 c.5240C>A p.P1747Q Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM255116 MEN1 c.? p.Q96* Substitution - Nonsense Parathyroid COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5016996 SRCAP c.4585C>T p.P1529S Substitution - Missense Kidney COSM2037061 PHRF1 c.3431G>A p.R1144Q Substitution - Missense Pancreas COSM5472726 PSIP1 c.9C>T p.R3R Substitution - coding silent Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3965534 ATRX c.6714A>T p.A2238A Substitution - coding silent Lung COSM228110 KMT2C c.1042G>A p.D348N Substitution - Missense Soft_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1639819 ARID1A c.4550delC p.Q1519fs*8 Deletion - Frameshift Stomach COSM4618542 CHD1 c.2396G>A p.R799H Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM251356 ARID1A c.6693_6705delGCGGCGGGCTGCC p.M2231fs*32 Deletion - Frameshift Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5359931 SFMBT2 c.1740G>C p.R580S Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4076230 DOT1L c.769T>C p.F257L Substitution - Missense Stomach COSM189262 ZMYND8 c.2564C>T p.T855M Substitution - Missense Large_intestine COSM4756569 JMJD1C c.6275A>G p.D2092G Substitution - Missense Stomach COSM5406665 JHDM1D c.2658C>T p.S886S Substitution - coding silent Skin COSM1121587 KDM6A c.2289C>T p.S763S Substitution - coding silent Endometrium COSM5365209 DNMT1 c.3935G>A p.R1312Q Substitution - Missense Large_intestine COSM4131555 DOT1L c.4779T>C p.P1593P Substitution - coding silent Thyroid COSM51975 BAP1 c.1911_1913delGTG p.K637_C638>N Complex - deletion inframe Eye COSM265706 HDAC9 c.3090G>T p.L1030F Substitution - Missense Large_intestine COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2154956 EHMT2 c.2591A>C p.H864P Substitution - Missense Central_nervous_system COSM3450161 PHRF1 c.357C>A p.A119A Substitution - coding silent Skin COSM1284107 CHD2 c.1063G>A p.V355I Substitution - Missense Autonomic_ganglia COSM2038973 MTA2 c.1600delA p.T534fs*25 Deletion - Frameshift Large_intestine COSM1179153 KDM6A c.311T>G p.L104R Substitution - Missense Prostate COSM4984817 ARID2 c.? p.R80fs*10 Frameshift Lung COSM3811514 EP400 c.7931C>T p.P2644L Substitution - Missense Breast COSM132968 ASXL1 c.? p.E635fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM4574958 HCFC2 c.1438G>A p.V480M Substitution - Missense Bone COSM3692583 LMNB2 c.1276G>T p.G426C Substitution - Missense Large_intestine COSM725723 PRMT2 c.328-1G>T p.? Unknown Lung COSM4991525 EP300 c.1014C>T p.I338I Substitution - coding silent Skin COSM1114026 ZBTB33 c.922T>G p.L308V Substitution - Missense Endometrium COSM287251 JMJD1C c.5759T>C p.I1920T Substitution - Missense Large_intestine COSM392615 TRIM33 c.1650_1651insA p.Q551fs*5 Insertion - Frameshift Lung COSM4464631 NIPBL c.1343C>T p.P448L Substitution - Missense Skin COSM2153895 ATF7IP c.1975G>T p.D659Y Substitution - Missense Central_nervous_system COSM1074213 SHPRH c.1238C>A p.P413Q Substitution - Missense Endometrium COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1086 SMARCB1 c.629-27G>A p.? Unknown Soft_tissue COSM94808 NCOA2 c.486C>G p.I162M Substitution - Missense Breast COSM106677 SMNDC1 c.567C>A p.N189K Substitution - Missense Skin COSM87135 TET2 c.3818G>C p.C1273S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM88115 CCDC101 c.166C>T p.R56W Substitution - Missense Central_nervous_system COSM140859 NCOA6 c.5798C>A p.T1933K Substitution - Missense Skin COSM136663 MYST3 c.3613C>T p.Q1205* Substitution - Nonsense Skin COSM160424 DIDO1 c.5239C>G p.Q1747E Substitution - Missense Lung COSM159984 CHD7 c.2552G>A p.R851K Substitution - Missense Breast COSM164471 SMARCD1 c.1054G>C p.D352H Substitution - Missense Breast COSM184236 ARID1A c.2077C>T p.R693* Substitution - Nonsense Ovary COSM234298 SFMBT2 c.532C>T p.R178* Substitution - Nonsense Skin COSM227525 KMT2C c.2294A>G p.E765G Substitution - Missense Upper_aerodigestive_tract COSM243245 BRWD1 c.4909G>A p.A1637T Substitution - Missense Prostate COSM258232 TP53BP1 c.2731G>T p.E911* Substitution - Nonsense Large_intestine COSM262332 NCOA6 c.5506A>G p.T1836A Substitution - Missense Large_intestine COSM258012 SIRT5 c.131G>A p.R44Q Substitution - Missense Urinary_tract COSM287308 TCF20 c.4737_4738insA p.Q1580fs*32 Insertion - Frameshift Large_intestine COSM330655 MSH6 c.3254delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM325576 JMJD1C c.4083G>T p.K1361N Substitution - Missense Lung COSM382662 PHC1 c.1123C>A p.Q375K Substitution - Missense Lung COSM1496664 BAZ1B c.3184G>T p.V1062F Substitution - Missense Kidney COSM426825 BRDT c.1063G>A p.D355N Substitution - Missense Breast COSM435536 CTCF c.851A>C p.H284P Substitution - Missense Breast COSM441531 ATF2 c.1501C>A p.Q501K Substitution - Missense Breast COSM685281 TAF3 c.177A>T p.T59T Substitution - coding silent Lung COSM684144 ERCC6 c.1991A>T p.Q664L Substitution - Missense Lung COSM1628275 EED c.470A>G p.N157S Substitution - Missense Liver COSM940018 KMT2D c.9999G>A p.Q3333Q Substitution - coding silent Upper_aerodigestive_tract COSM1019227 DNMT3A c.2223G>A p.A741A Substitution - coding silent Endometrium COSM709402 CXXC1 c.124G>T p.G42W Substitution - Missense Lung COSM704396 PRMT7 c.794G>T p.R265M Substitution - Missense Lung COSM1692155 SP100 c.2078C>T p.T693I Substitution - Missense Skin COSM897122 LMNA c.1930C>T p.R644C Substitution - Missense Endometrium COSM896619 TDRD10 c.591G>A p.G197G Substitution - coding silent Endometrium COSM934218 HCFC2 c.256G>T p.V86L Substitution - Missense Endometrium COSM926756 RAG2 c.870C>T p.I290I Substitution - coding silent Endometrium COSM990452 DNMT1 c.1435T>C p.F479L Substitution - Missense Endometrium COSM1043288 KAT2B c.718G>T p.E240* Substitution - Nonsense Endometrium COSM1041041 PHC3 c.979C>A p.P327T Substitution - Missense Endometrium COSM1034534 EP300 c.3117G>A p.P1039P Substitution - coding silent Liver COSM1122195 HDAC6 c.1867T>C p.F623L Substitution - Missense Endometrium COSM1107175 EHMT1 c.1284G>T p.E428D Substitution - Missense Endometrium COSM1093627 TRRAP c.4751A>G p.D1584G Substitution - Missense Endometrium COSM1239604 NIPBL c.6891A>G p.V2297V Substitution - coding silent Oesophagus COSM1244194 ACTR5 c.516C>G p.Y172* Substitution - Nonsense Stomach COSM1162342 PHC1 c.918A>G p.R306R Substitution - coding silent Biliary_tract COSM1257403 MBD5 c.2023A>G p.M675V Substitution - Missense Oesophagus COSM1211342 KAT2A c.751C>T p.R251W Substitution - Missense Large_intestine COSM1224334 RSF1 c.3124G>A p.D1042N Substitution - Missense Large_intestine COSM1185556 TTF2 c.1171G>T p.V391L Substitution - Missense Lung COSM1186966 KDM1B c.953T>C p.M318T Substitution - Missense Lung COSM1171907 KMT2D c.7621C>T p.Q2541* Substitution - Nonsense Oesophagus COSM1159236 STK31 c.1900A>G p.K634E Substitution - Missense Pancreas COSM1159590 PHF6 c.2T>A p.M1K Substitution - Missense Pancreas COSM1604308 PRDM10 c.704C>T p.P235L Substitution - Missense Liver COSM1309203 SMARCC1 c.2551G>A p.D851N Substitution - Missense Urinary_tract COSM1323106 CHD4 c.846T>C p.D282D Substitution - coding silent Ovary COSM1321525 TDRD1 c.2575G>C p.A859P Substitution - Missense Ovary COSM1384606 AKAP1 c.961_963delGAG p.E322delE Deletion - In frame Large_intestine COSM1450076 STK31 c.1236G>T p.E412D Substitution - Missense Large_intestine COSM1446612 ACTL6B c.249G>A p.S83S Substitution - coding silent Large_intestine COSM1436879 PRDM9 c.638T>C p.I213T Substitution - Missense Large_intestine COSM1449420 KMT2C c.8390_8391insA p.E2798fs*11 Insertion - Frameshift Large_intestine COSM1352575 PRDM10 c.628delC p.L210fs*5 Deletion - Frameshift Large_intestine COSM1353846 PRDM11 c.375delC p.P127fs*40 Deletion - Frameshift Large_intestine COSM1608054 SMEK1 c.298-6_298-5insT p.? Unknown Liver COSM1491965 SMYD2 c.1113-2A>T p.? Unknown Kidney COSM1489868 PSIP1 c.288+1G>T p.? Unknown Lung COSM1583404 SETDB1 c.607C>T p.R203* Substitution - Nonsense Endometrium COSM1620693 CHD1 c.4902C>G p.H1634Q Substitution - Missense Liver COSM1621963 PHIP c.4416A>T p.E1472D Substitution - Missense Liver COSM1639807 ARID1A c.490_497delGCCGCGGC p.A164fs*233 Deletion - Frameshift Stomach COSM1685148 TRIM33 c.2802T>C p.I934I Substitution - coding silent Lung COSM1686032 TRRAP c.10290C>A p.F3430L Substitution - Missense Skin COSM1698027 EYA4 c.1760G>A p.R587Q Substitution - Missense Skin COSM1709075 SRCAP c.3484_3485CC>TT p.P1162L Substitution - Missense Skin COSM1730771 MYST3 c.3443A>T p.K1148M Substitution - Missense Liver COSM1755320 ACTB c.147G>A p.Q49Q Substitution - coding silent Urinary_tract COSM1724237 PRMT8 c.91T>C p.S31P Substitution - Missense Skin COSM2064475 HCFC2 c.1150G>A p.E384K Substitution - Missense Breast COSM2801177 PHF12 c.2064A>G p.R688R Substitution - coding silent Large_intestine COSM2894235 ATF2 c.321G>A p.M107I Substitution - Missense Oesophagus COSM3097821 BRWD3 c.3971C>A p.P1324Q Substitution - Missense Large_intestine COSM3262529 KMT2C c.11557C>T p.R3853W Substitution - Missense Large_intestine COSM3365401 PBRM1 c.1444-2A>T p.? Unknown Kidney COSM3371751 DIDO1 c.664G>A p.D222N Substitution - Missense Large_intestine COSM3396431 BRWD3 c.3775G>A p.A1259T Substitution - Missense Prostate COSM3496144 METTL21D c.686C>T p.S229L Substitution - Missense Skin COSM3421032 CHD9 c.6000C>T p.N2000N Substitution - coding silent Large_intestine COSM3432682 TDRD7 c.2625G>T p.E875D Substitution - Missense Large_intestine COSM3620812 EYA4 c.1012G>A p.D338N Substitution - Missense Skin COSM3547330 EYA2 c.416-1G>A p.? Unknown Skin COSM3555532 BRD1 c.2964C>T p.L988L Substitution - coding silent Skin COSM3528431 SMARCA4 c.3538C>T p.P1180S Substitution - Missense Skin COSM3660583 SETD2 c.4349A>T p.E1450V Substitution - Missense Liver COSM3656852 TAF1L c.2797G>A p.E933K Substitution - Missense Skin COSM3670305 DNMT3A c.2204A>T p.Y735F Substitution - Missense Central_nervous_system COSM3717852 AP001011.3_ENST00000320876 c.222T>C p.I74I Substitution - coding silent Liver COSM3739670 ARID2 c.2324T>C p.L775S Substitution - Missense Liver COSM3756111 SMCHD1 c.981A>T p.K327N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3817101 CHD2 c.1696G>A p.G566S Substitution - Missense Breast COSM3927398 SETD5_ENST00000402198 c.2514T>A p.Y838* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3907585 KIAA2026_ENST00000399933 c.417G>A p.L139L Substitution - coding silent Stomach COSM3882238 BAZ1B c.1416T>A p.P472P Substitution - coding silent Stomach COSM3901376 EYA1 c.1386A>C p.E462D Substitution - Missense Stomach COSM3957247 PHF11 c.81C>T p.L27L Substitution - coding silent Ovary COSM4096142 KDM3A c.3508C>G p.P1170A Substitution - Missense Stomach COSM4127904 SUV420H2 c.1208G>A p.R403H Substitution - Missense Ovary COSM4127904 SUV420H2 c.1208G>A p.R403H Substitution - Missense Ovary COSM4388465 BRD3 c.1843G>C p.E615Q Substitution - Missense Pancreas COSM4384168 MLL5 c.5504G>A p.G1835E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4387470 EP300 c.4343T>C p.F1448S Substitution - Missense Oesophagus COSM4385265 EP300 c.6796_6798delCAG p.Q2268delQ Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM4403774 ASXL3 c.1755T>G p.P585P Substitution - coding silent Skin COSM4596954 MBD3 c.550G>T p.A184S Substitution - Missense Upper_aerodigestive_tract COSM4574530 PHRF1 c.1169G>A p.R390H Substitution - Missense Bone COSM4438690 GTF3C1 c.2563G>A p.E855K Substitution - Missense Oesophagus COSM4438726 SETBP1 c.1157A>G p.N386S Substitution - Missense Oesophagus COSM4575597 BAZ2A_ENST00000379441 c.4000G>T p.A1334S Substitution - Missense Bone COSM4588683 EHMT1 c.1765C>A p.R589R Substitution - coding silent Bone COSM4424043 ATXN7 c.107_108delAG p.Q36fs*52 Deletion - Frameshift Prostate COSM4450131 ARID2 c.457delA p.N153fs*62 Deletion - Frameshift Skin COSM4766094 TET2 c.3443A>G p.Y1148C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4640710 EHMT2 c.551G>A p.R184H Substitution - Missense Large_intestine COSM4642779 SETD2 c.5945G>A p.C1982Y Substitution - Missense Large_intestine COSM4618996 ARID2 c.1352C>G p.S451C Substitution - Missense Large_intestine COSM4617823 CBX8 c.398C>T p.A133V Substitution - Missense Large_intestine COSM4799544 PRDM4 c.705G>A p.L235L Substitution - coding silent Liver COSM4889255 PRDM13 c.1360C>A p.H454N Substitution - Missense Upper_aerodigestive_tract COSM4916633 EHMT2 c.668-2A>T p.? Unknown Liver COSM4848472 EP400 c.3906C>T p.D1302D Substitution - coding silent Cervix COSM4991285 DOT1L c.2708C>T p.P903L Substitution - Missense Skin COSM5031050 KDM6A c.2606A>T p.D869V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5015956 BAZ2B c.5937_5938insT p.A1980fs*2 Insertion - Frameshift Kidney COSM5055493 EZH1 c.80G>A p.R27Q Substitution - Missense Stomach COSM5348596 BRPF3 c.2024_2025insT p.H676fs*28 Insertion - Frameshift Liver COSM5366485 EP300 c.4351C>A p.H1451N Substitution - Missense Large_intestine COSM5506405 KMT2D c.1485_1486delTC p.P496fs*3 Deletion - Frameshift Biliary_tract COSM5498903 NIPBL c.7244A>G p.N2415S Substitution - Missense Biliary_tract COSM5445242 BAHCC1 c.5385C>T p.N1795N Substitution - coding silent Oesophagus COSM5445334 BAZ1A c.1467_1469delAGA p.E491delE Deletion - In frame Oesophagus COSM5452882 SMARCB1 c.329T>G p.V110G Substitution - Missense Large_intestine COSM5440778 MUM1 c.438C>A p.G146G Substitution - coding silent Oesophagus COSM5643170 SMARCA5 c.77G>A p.S26N Substitution - Missense Oesophagus COSM5769585 CBX3 c.331-3C>G p.? Unknown Breast COSM5721460 TAF3 c.2601C>T p.I867I Substitution - coding silent Skin COSM5734298 MECOM c.2195G>A p.R732H Substitution - Missense Pancreas COSM5705533 PHF13 c.347_348insGAA p.K121_R122insK Insertion - In frame Haematopoietic_and_lymphoid_tissue COSM5558039 KMT2C c.11818A>T p.K3940* Substitution - Nonsense Prostate COSM5569156 KDM6B c.3740C>T p.T1247I Substitution - Missense Prostate COSM5571886 ZMYND8 c.2457G>A p.V819V Substitution - coding silent Prostate COSM5765784 BAHD1 c.2141C>T p.A714V Substitution - Missense Large_intestine COSM5777516 KMT2C c.1797T>C p.D599D Substitution - coding silent Breast COSM5788990 KDM1A c.215G>T p.G72V Substitution - Missense Breast COSM5814189 MTA1 c.1742G>T p.G581V Substitution - Missense Liver COSM5945062 TET2 c.4525A>T p.K1509* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5952780 PHC2 c.175-2A>C p.? Unknown Oesophagus COSM5945715 DNMT3A c.2116G>A p.G706R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5910008 HDAC8 c.544G>A p.G182R Substitution - Missense Skin COSM5930176 ASH1L c.8620C>G p.P2874A Substitution - Missense Skin COSM5987193 PHF14 c.2537G>A p.R846K Substitution - Missense Salivary_gland COSM5996575 PHF3 c.2578G>A p.G860R Substitution - Missense Prostate COSM914353 ASXL1 c.? p.Q733* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96468 CREBBP c.(5830_5832)insC p.?fs Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43409 TET2 c.? p.?fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM1738053 TET2 c.? p.H994fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM41890 TET2 c.? p.I1873T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1283676 BPTF c.394_396delGAG p.E138delE Deletion - In frame Autonomic_ganglia COSM3926350 GTF3C4 c.1240C>T p.H414Y Substitution - Missense Skin COSM944177 AICDA c.466G>A p.E156K Substitution - Missense Skin COSM4510999 TRRAP c.8487C>G p.I2829M Substitution - Missense Skin COSM138766 JMJD1C c.4835C>T p.A1612V Substitution - Missense Skin COSM947884 PHF11 c.445C>T p.R149* Substitution - Nonsense Large_intestine COSM1166149 DIDO1 c.6357C>T p.R2119R Substitution - coding silent Large_intestine COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM5172186 PHC3 c.1305C>A p.S435S Substitution - coding silent Large_intestine COSM930497 KAT5 c.1128G>T p.E376D Substitution - Missense Endometrium COSM5945798 BAP1 c.? p.T517fs*51 Frameshift Pleura COSM4995863 DOT1L c.1361G>C p.R454T Substitution - Missense Upper_aerodigestive_tract COSM5944241 TET2 c.3559_3563delGGCAA p.G1187fs*9 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM179972 TAF3 c.364G>T p.E122* Substitution - Nonsense Endometrium COSM30382 KMT2D c.8516C>A p.P2839H Substitution - Missense Bone COSM3720386 CHD4 c.4001G>A p.G1334D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM426747 RERE c.2364A>G p.P788P Substitution - coding silent Large_intestine COSM1026849 CHD6 c.6472G>A p.A2158T Substitution - Missense Liver COSM3097870 BRWD3 c.748T>C p.C250R Substitution - Missense Large_intestine COSM4996812 KMT2C c.12427C>T p.L4143F Substitution - Missense Upper_aerodigestive_tract COSM4434112 KDM6A c.1065G>A p.W355* Substitution - Nonsense Oesophagus COSM3205548 TBL1XR1 c.127C>T p.L43F Substitution - Missense Large_intestine COSM5473412 BAZ2A c.1853C>A p.P618H Substitution - Missense Large_intestine COSM264849 ZMYM1 c.1289C>A p.S430Y Substitution - Missense Large_intestine COSM53041 EZH2 c.2195+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM734124 CLOCK c.1709C>G p.S570* Substitution - Nonsense Lung COSM5813498 ASH1L c.6902A>T p.H2301L Substitution - Missense Liver COSM5832322 LMNA c.1786delG p.D596fs*>69 Deletion - Frameshift Breast COSM5760888 GTF3C1 c.4058G>A p.R1353Q Substitution - Missense Pancreas COSM4608209 PRDM2 c.5152G>T p.E1718* Substitution - Nonsense Adrenal_gland COSM5067886 CHD7 c.8955_8956insG p.D2988fs*2 Insertion - Frameshift Large_intestine COSM3915308 MECOM c.2738G>A p.G913E Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM250168 MEN1 c.446_446delG p.G149fs*36 Deletion - Frameshift Parathyroid COSM4845605 TRIM28 c.2046C>T p.L682L Substitution - coding silent Cervix COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Biliary_tract COSM331850 DNMT1 c.4170G>T p.G1390G Substitution - coding silent Lung COSM4110058 KDM5C c.1836C>T p.A612A Substitution - coding silent Stomach COSM5570981 SETD2 c.5195T>C p.V1732A Substitution - Missense Prostate COSM5715614 NIPBL c.1978G>T p.E660* Substitution - Nonsense Skin COSM725094 PRDM15 c.2235G>T p.K745N Substitution - Missense Lung COSM461642 KMT2C c.3556C>T p.Q1186* Substitution - Nonsense Large_intestine COSM4803568 PRDM13 c.698C>A p.S233Y Substitution - Missense Liver COSM1025777 DNMT3B c.204+1G>A p.? Unknown Oesophagus COSM4495785 PRDM9 c.460C>T p.P154S Substitution - Missense Skin COSM1178762 KDM6A c.450_451insA p.A152fs*9 Insertion - Frameshift Prostate COSM3712214 SMYD4 c.981G>T p.W327C Substitution - Missense Upper_aerodigestive_tract COSM41600 ASXL1 c.? p.Q976* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1226804 SMC1A c.3449C>T p.A1150V Substitution - Missense Large_intestine COSM2965438 KDM6A c.3304G>A p.E1102K Substitution - Missense Biliary_tract COSM749487 ATAD2 c.2206G>C p.D736H Substitution - Missense Lung COSM3353095 TDRD6 c.3566T>G p.L1189W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1603625 JMJD1C c.4178A>C p.K1393T Substitution - Missense Liver COSM4496000 ZMYM2 c.465C>T p.F155F Substitution - coding silent Skin COSM1066209 NSD1 c.1492C>T p.R498* Substitution - Nonsense Skin COSM1066248 NSD1 c.3747G>T p.K1249N Substitution - Missense Endometrium COSM1666914 SMARCB1 c.491_492insCCTT p.P165fs*6 Insertion - Frameshift Central_nervous_system COSM4900659 ASH1L c.7373C>T p.S2458F Substitution - Missense Skin COSM4416984 DOT1L c.3391-5C>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4073752 DNMT1 c.2379C>T p.H793H Substitution - coding silent Stomach COSM3841207 ZMYND8 c.2645C>T p.S882L Substitution - Missense Breast COSM2995127 CTCF c.552_553insC p.Q186fs*5 Insertion - Frameshift Large_intestine COSM2911791 DNMT3A c.1390A>T p.K464* Substitution - Nonsense Large_intestine COSM4147106 KMT2D c.4303A>G p.T1435A Substitution - Missense Thyroid COSM4590719 KAT2A c.1583C>T p.S528F Substitution - Missense Upper_aerodigestive_tract COSM3846690 MECOM c.1316A>C p.Q439P Substitution - Missense Breast COSM431216 KMT2D c.1557delC p.L520fs*165 Deletion - Frameshift Breast COSM3384539 MBD6 c.1461C>A p.V487V Substitution - coding silent Pancreas COSM2802725 CBX2 c.100C>T p.R34C Substitution - Missense Skin COSM4101919 DNMT3L c.139C>T p.R47* Substitution - Nonsense Stomach COSM969273 GTF3C1 c.761A>G p.K254R Substitution - Missense Endometrium COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4700961 MBD1 c.335C>T p.P112L Substitution - Missense Large_intestine COSM5364512 L3MBTL4 c.461-3delT p.? Unknown Large_intestine COSM345454 PHC3 c.1231C>G p.L411V Substitution - Missense Lung COSM1372836 MGA c.7621C>T p.R2541W Substitution - Missense Large_intestine COSM5413496 TRRAP c.4782C>T p.I1594I Substitution - coding silent Skin COSM3877892 SND1 c.1120C>T p.R374* Substitution - Nonsense Stomach COSM3358465 BAP1 c.2132delA p.K711fs*>19 Deletion - Frameshift Kidney COSM1307066 KDM3A c.376G>A p.G126R Substitution - Missense Urinary_tract COSM1190279 NCOA3 c.1778T>A p.L593H Substitution - Missense Lung COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM250048 ATRX c.1660_1661delCA p.Q554fs*21 Deletion - Frameshift Central_nervous_system COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5954751 PHF3 c.4765A>C p.K1589Q Substitution - Missense Upper_aerodigestive_tract COSM4648728 PBRM1 c.2955G>A p.E985E Substitution - coding silent Large_intestine COSM1027515 ZMYND8 c.2860G>A p.E954K Substitution - Missense Breast COSM3854571 PRDM9 c.1515T>C p.N505N Substitution - coding silent Stomach COSM4388026 CREBBP c.5267A>G p.Q1756R Substitution - Missense Pancreas COSM4847736 CTCF c.1829C>T p.S610F Substitution - Missense Cervix COSM5566534 KDM3B c.1838G>A p.R613H Substitution - Missense Prostate COSM3536907 PRMT1 c.850C>T p.P284S Substitution - Missense Skin COSM958208 ALKBH1 c.836C>T p.S279L Substitution - Missense Endometrium COSM4128851 GTF3C1 c.232A>G p.I78V Substitution - Missense Thyroid COSM926759 RAG2 c.475C>T p.R159C Substitution - Missense Endometrium COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Central_nervous_system COSM88747 CREBBP c.4304A>G p.D1435G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3108847 GTF3C1 c.4862A>G p.D1621G Substitution - Missense Large_intestine COSM1288408 TDRD6 c.3620A>T p.E1207V Substitution - Missense Autonomic_ganglia COSM1025791 DNMT3B c.685G>A p.V229M Substitution - Missense Endometrium COSM1221900 PRDM8 c.383T>C p.V128A Substitution - Missense Large_intestine COSM3627967 TDRD6 c.5026G>A p.D1676N Substitution - Missense Skin COSM1387363 CHD3 c.3636G>A p.G1212G Substitution - coding silent Large_intestine COSM5696479 KDM6B c.3158C>T p.P1053L Substitution - Missense Soft_tissue COSM3598880 INTS12 c.385C>T p.P129S Substitution - Missense Skin COSM2911389 NCOA1 c.1555G>A p.V519I Substitution - Missense Urinary_tract COSM299484 RSF1 c.267delA p.K89fs*3 Deletion - Frameshift Large_intestine COSM106611 DIDO1 c.4008C>T p.P1336P Substitution - coding silent Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1377824 CREBBP c.4506G>A p.W1502* Substitution - Nonsense Liver COSM5494157 PRDM15 c.3310C>T p.R1104C Substitution - Missense Biliary_tract COSM3810584 EED c.1064G>A p.R355Q Substitution - Missense Breast COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1665117 ZMYM6 c.326C>T p.T109I Substitution - Missense Kidney COSM1124878 TAF1 c.1680A>T p.E560D Substitution - Missense Endometrium COSM5357299 PHF3 c.3504T>C p.S1168S Substitution - coding silent Large_intestine COSM5493433 CHD9 c.2938C>A p.L980I Substitution - Missense Biliary_tract COSM1208366 GLYATL1 c.481G>T p.A161S Substitution - Missense Large_intestine COSM211700 TET2 c.3139_3140insA p.T1047fs*11 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1732151 PBRM1 c.3245delC p.S1082fs*1 Deletion - Frameshift Kidney COSM5716801 L3MBTL3 c.1750C>T p.P584S Substitution - Missense Skin COSM1184474 BAZ1A c.1590G>A p.W530* Substitution - Nonsense Large_intestine COSM1707264 BAZ1A c.1768C>T p.R590C Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1124808 ZMYM3 c.2638C>T p.H880Y Substitution - Missense Endometrium COSM1682303 TCF20 c.2290C>A p.P764T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3493339 BRDT c.2462C>T p.S821F Substitution - Missense Skin COSM261422 ING2 c.202G>A p.E68K Substitution - Missense Large_intestine COSM4999829 DNMT3A c.1714G>T p.A572S Substitution - Missense Pancreas COSM4512642 ACTR8 c.90C>T p.I30I Substitution - coding silent Skin COSM5762953 TET2 c.1452T>A p.C484* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4424863 GTF3C1 c.1356C>G p.L452L Substitution - coding silent Oesophagus COSM3493763 YY1 c.785C>T p.P262L Substitution - Missense Skin COSM3751679 TRDMT1 c.168G>A p.T56T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5472849 HCFC1 c.4944G>A p.A1648A Substitution - coding silent Large_intestine COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM680968 ZMYM1 c.1798G>A p.E600K Substitution - Missense Lung COSM435237 CREBBP c.5406G>C p.V1802V Substitution - coding silent Breast COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3494956 CHD8 c.870C>T p.V290V Substitution - coding silent Skin COSM4880271 KMT2D c.10396C>T p.Q3466* Substitution - Nonsense Prostate COSM5013161 KAT2A c.452A>G p.E151G Substitution - Missense Kidney COSM368626 GTF3C1 c.6279G>T p.L2093L Substitution - coding silent Lung COSM290239 CBX4 c.555C>T p.C185C Substitution - coding silent Large_intestine COSM3634200 JHDM1D c.1188C>T p.F396F Substitution - coding silent Skin COSM1257983 MSH6 c.1072G>A p.D358N Substitution - Missense Oesophagus COSM4580168 JMJD6 c.184C>A p.R62R Substitution - coding silent Bone COSM1469223 TAF1 c.3202C>T p.R1068C Substitution - Missense Large_intestine COSM180750 SMARCA4 c.1142G>A p.R381Q Substitution - Missense Endometrium COSM1757091 SMARCC1 c.3305C>T p.S1102L Substitution - Missense Urinary_tract COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM231549 DNMT3A c.2309C>T p.S770L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3853958 NSD1 c.3730A>G p.I1244V Substitution - Missense Stomach COSM3508217 GTF3C1 c.3944C>T p.S1315F Substitution - Missense Skin COSM4010649 MTF2 c.1400C>A p.S467* Substitution - Nonsense Stomach COSM4992942 KMT2C c.1470G>A p.R490R Substitution - coding silent Skin COSM961202 BAHD1 c.451C>T p.P151S Substitution - Missense Endometrium COSM4985424 KMT2D c.5778T>A p.Y1926* Substitution - Nonsense Soft_tissue COSM371126 DIDO1 c.1145T>G p.L382R Substitution - Missense Lung COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM322801 PRDM15 c.2653G>A p.E885K Substitution - Missense Lung COSM4836296 HDAC6 c.1521C>G p.I507M Substitution - Missense Cervix COSM4404192 CHD8 c.3292C>T p.P1098S Substitution - Missense Skin COSM3724489 SMARCA4 c.2287_2288insG p.E763fs*61 Insertion - Frameshift Ovary COSM4467495 KMT2D c.14120C>T p.P4707L Substitution - Missense Skin COSM3736437 STK31 c.781G>A p.E261K Substitution - Missense Thyroid COSM4763008 ASH1L c.1504C>G p.Q502E Substitution - Missense Stomach COSM5059925 ATXN7 c.1325C>T p.A442V Substitution - Missense Stomach COSM4694877 KDM2A c.3202C>T p.R1068* Substitution - Nonsense Large_intestine COSM5061838 TDRD6 c.523C>T p.L175L Substitution - coding silent Stomach COSM470600 INOC1 c.1991G>A p.R664H Substitution - Missense Large_intestine COSM1746651 KDM4D c.1387C>G p.Q463E Substitution - Missense Urinary_tract COSM255647 CHD7 c.5533_5534insT p.G1845fs*5 Insertion - Frameshift Central_nervous_system COSM3747771 PHF2 c.2990G>C p.S997T Substitution - Missense Thyroid COSM4456997 C5orf35 c.102C>G p.T34T Substitution - coding silent Skin COSM26723 MSH6 c.3023C>T p.T1008I Substitution - Missense Skin COSM3810594 TRIM66 c.864C>A p.P288P Substitution - coding silent Breast COSM5722574 NCOR1 c.3450C>T p.T1150T Substitution - coding silent Skin COSM3834983 EYA1 c.1461G>A p.S487S Substitution - coding silent Breast COSM956543 ARID4A c.3647G>T p.R1216I Substitution - Missense Endometrium COSM43487 TET2 c.1823_1823delA p.N608fs*31 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1581234 KMT2C c.10763C>T p.S3588L Substitution - Missense Soft_tissue COSM3949487 PHIP c.5147C>T p.P1716L Substitution - Missense Lung COSM3588190 ZBTB38 c.2823G>A p.K941K Substitution - coding silent Skin COSM3475157 LMNA c.961C>T p.R321* Substitution - Nonsense Skin COSM4479645 CHD7 c.2346C>T p.S782S Substitution - coding silent Skin COSM5762490 TAF1 c.4981G>A p.D1661N Substitution - Missense Pancreas COSM5019889 SETBP1 c.3388C>A p.P1130T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM48859 BAP1 c.1153C>T p.R385* Substitution - Nonsense Eye COSM3367735 KIAA2026_ENST00000399933 c.1299T>C p.L433L Substitution - coding silent Kidney COSM3998140 HELLS c.231A>C p.I77I Substitution - coding silent Upper_aerodigestive_tract COSM757641 TAF1 c.2854G>A p.G952R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Upper_aerodigestive_tract COSM4628425 NIPBL c.927T>C p.D309D Substitution - coding silent Large_intestine COSM485089 KMT2C c.6760G>A p.A2254T Substitution - Missense Central_nervous_system COSM1709150 BRD7 c.108A>T p.E36D Substitution - Missense Skin COSM729788 ACTL6A c.1048G>A p.V350M Substitution - Missense Lung COSM120499 DNMT3A c.2638A>G p.M880V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5678796 GLYATL1 c.319C>A p.R107S Substitution - Missense Soft_tissue COSM3900877 CHD7 c.6212A>G p.H2071R Substitution - Missense Stomach COSM37029 EZH2 c.1937A>C p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4064271 SMYD4 c.1029A>T p.T343T Substitution - coding silent Stomach COSM5375652 BAZ2A c.2180G>C p.R727P Substitution - Missense Skin COSM5760508 CREBBP c.6604C>T p.Q2202* Substitution - Nonsense Bone COSM473826 SETBP1 c.69C>G p.S23S Substitution - coding silent Kidney COSM3401744 TP53BP1 c.357-1G>C p.? Unknown Central_nervous_system COSM5609418 KMT2A c.7277G>A p.R2426K Substitution - Missense Skin COSM3422784 SIRT2 c.1164C>A p.P388P Substitution - coding silent Large_intestine COSM690311 SUV420H1 c.1706C>A p.T569K Substitution - Missense Lung COSM5739510 PRDM10 c.2195T>G p.F732C Substitution - Missense Small_intestine COSM3555044 TCF20 c.5371C>T p.R1791C Substitution - Missense Skin COSM3441509 BTAF1 c.4347C>T p.F1449F Substitution - coding silent Skin COSM13394 MSH6 c.3261_3262insC p.F1088fs*5 Insertion - Frameshift Large_intestine COSM983358 BPTF c.8152G>T p.D2718Y Substitution - Missense Endometrium COSM338583 CARM1 c.396G>A p.L132L Substitution - coding silent Lung COSM288609 MBD5 c.3755G>T p.R1252I Substitution - Missense Stomach COSM1265354 SETDB1 c.2149G>A p.V717I Substitution - Missense Oesophagus COSM1723044 CBX4 c.1198_1200delCAC p.H400delH Deletion - In frame Upper_aerodigestive_tract COSM79135 ARID1A c.1991C>G p.S664* Substitution - Nonsense Urinary_tract COSM4187893 CHD7 c.7988C>T p.A2663V Substitution - Missense Kidney COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3508919 SRCAP c.7608C>T p.I2536I Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3296316 EPC2 c.2223A>T p.P741P Substitution - coding silent Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2195887 BAZ1A c.2627G>A p.R876H Substitution - Missense Large_intestine COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM5785214 EYA3 c.1699G>C p.A567P Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4060195 SRCAP c.3262T>C p.S1088P Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5015704 PRMT2 c.565A>T p.I189F Substitution - Missense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM757229 KDM6A c.4177-1G>A p.? Unknown Lung COSM110818 BAP1 c.1_2190del2190 p.0? Whole gene deletion Eye COSM941099 CBX5 c.83G>T p.R28M Substitution - Missense Endometrium COSM2687779 NIPBL c.1439T>C p.I480T Substitution - Missense Stomach COSM1158017 KMT2C c.11878C>T p.R3960* Substitution - Nonsense Pancreas COSM5447228 MBTD1 c.344A>T p.E115V Substitution - Missense Large_intestine COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4438122 CDYL2 c.859C>T p.L287F Substitution - Missense Oesophagus COSM914362 ASXL1 c.? p.Q829* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4169568 MSH6 c.? p.T1219I Substitution - Missense Central_nervous_system COSM5913562 CHD8 c.1968+5G>A p.? Unknown Skin COSM4828898 PRMT2 c.70G>A p.G24S Substitution - Missense Cervix COSM5730218 TDRD7 c.3070delC p.A1025fs*3 Deletion - Frameshift Skin COSM251412 ARID2 c.1073C>G p.T358S Substitution - Missense Liver COSM704395 PRMT7 c.796C>T p.R266W Substitution - Missense Lung COSM488467 KDM5C c.643A>T p.R215* Substitution - Nonsense Kidney COSM3724474 ARID1A c.6694C>T p.R2232W Substitution - Missense Large_intestine COSM1179868 SETBP1 c.1875A>G p.R625R Substitution - coding silent Prostate COSM1169694 TET2 c.? p.Q323* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM674183 SMARCB1 c.825_838del14 p.D277fs*79 Deletion - Frameshift Central_nervous_system COSM5028904 KDM6A c.3203C>A p.S1068* Substitution - Nonsense Breast COSM4383817 TET2 c.1588C>T p.Q530* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5676981 ASH1L c.4554A>G p.R1518R Substitution - coding silent Soft_tissue COSM1351642 KMT2A c.5810delA p.K1938fs*43 Deletion - Frameshift Large_intestine COSM5552848 CTCF c.435G>A p.E145E Substitution - coding silent Prostate COSM5651918 EYA4 c.896C>G p.T299R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24595 SMARCB1 c.157C>T p.R53* Substitution - Nonsense Central_nervous_system COSM1351611 KMT2A c.2584C>T p.R862* Substitution - Nonsense Large_intestine COSM480432 PBRM1 c.755T>G p.I252R Substitution - Missense Kidney COSM4062131 PRMT7 c.1287C>T p.V429V Substitution - coding silent Stomach COSM996 SMARCB1 c.727C>T p.Q243* Substitution - Nonsense Large_intestine COSM34039 IDH2 c.514A>T p.R172W Substitution - Missense Central_nervous_system COSM23036 MEN1 c.291_292delCC p.I97fs*19 Deletion - Frameshift Parathyroid COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM23063 MEN1 c.292delC p.R98fs*21 Deletion - Frameshift Parathyroid COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52980 EZH2 c.2069G>A p.R690H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM70508 DNMT3B c.2155G>T p.V719L Substitution - Missense Ovary COSM87079 TET2 c.945_945delC p.Q317fs*30 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM87138 TET2 c.3893G>A p.C1298Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87105 TET2 c.2497_2497delT p.S833fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM97032 ASXL1 c.2061_2061delT p.C687fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM112087 TDG c.286_287insA p.I98fs*6 Insertion - Frameshift Central_nervous_system COSM140929 RAD54L c.149C>T p.P50L Substitution - Missense Skin COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Thyroid COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Upper_aerodigestive_tract COSM211759 MEN1 c.113_123del11 p.S38fs*75 Deletion - Frameshift Parathyroid COSM219514 KDM3B c.3340G>A p.A1114T Substitution - Missense Prostate COSM212164 ASH1L c.4068G>T p.M1356I Substitution - Missense Breast COSM215752 SMARCA4 c.3694G>A p.G1232S Substitution - Missense Skin COSM245192 KDM3B c.2813G>T p.R938L Substitution - Missense Prostate COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Prostate COSM277380 SMARCA5 c.377G>A p.R126Q Substitution - Missense Large_intestine COSM303247 SMARCA4 c.3574C>T p.R1192C Substitution - Missense Stomach COSM422762 PBRM1 c.651T>G p.Y217* Substitution - Nonsense Kidney COSM436257 PHF12 c.2191C>T p.R731* Substitution - Nonsense Endometrium COSM979604 EZH1 c.973G>T p.E325* Substitution - Nonsense Endometrium COSM985845 BAHCC1 c.399C>A p.T133T Substitution - coding silent Endometrium COSM484586 MLL5 c.5037A>C p.P1679P Substitution - coding silent Liver COSM483865 BAG6 c.1520G>T p.R507L Substitution - Missense Kidney COSM480168 SETD2 c.2769A>G p.K923K Substitution - coding silent Kidney COSM480403 PBRM1 c.1505C>G p.S502* Substitution - Nonsense Kidney COSM918676 ERCC6 c.1119G>T p.E373D Substitution - Missense Endometrium COSM963076 PYGO1 c.634T>G p.F212V Substitution - Missense Endometrium COSM681079 PRDM16 c.3413C>G p.S1138W Substitution - Missense Lung COSM1049762 TET2 c.4269C>T p.V1423V Substitution - coding silent Endometrium COSM953997 MTA1 c.34G>A p.V12I Substitution - Missense Endometrium COSM941768 BAZ2A_ENST00000379441 c.2298A>C p.E766D Substitution - Missense Endometrium COSM1023554 SMYD1 c.958C>T p.R320C Substitution - Missense Stomach COSM1031235 DNMT3L c.611C>T p.T204M Substitution - Missense Endometrium COSM920526 KAT6B c.1890G>A p.R630R Substitution - coding silent Endometrium COSM703624 GLYR1 c.151G>T p.D51Y Substitution - Missense Lung COSM723101 DNMT3B c.2304A>G p.L768L Substitution - coding silent Lung COSM907726 ARID1A c.4336C>T p.R1446* Substitution - Nonsense Stomach COSM907952 EYA3 c.611G>A p.G204D Substitution - Missense Endometrium COSM895015 PRDM2 c.2809A>G p.T937A Substitution - Missense Endometrium COSM971078 GLYR1 c.880A>G p.T294A Substitution - Missense Endometrium COSM1074203 SHPRH c.1864G>T p.E622* Substitution - Nonsense Endometrium COSM971509 FTO c.123G>T p.Q41H Substitution - Missense Endometrium COSM1124871 TAF1 c.1042C>T p.L348L Substitution - coding silent Endometrium COSM1113699 MSL3 c.731A>C p.Y244S Substitution - Missense Endometrium COSM1128336 YY1 c.759A>G p.E253E Substitution - coding silent Breast COSM1083687 MLL5 c.3427G>A p.D1143N Substitution - Missense Endometrium COSM1251236 EP400 c.5239G>C p.V1747L Substitution - Missense Stomach COSM1226966 SND1 c.1163A>G p.K388R Substitution - Missense Large_intestine COSM1166416 TAF1L c.5031G>A p.T1677T Substitution - coding silent Large_intestine COSM1159828 SMARCA4 c.2644G>A p.E882K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1312340 PHF3 c.406G>A p.E136K Substitution - Missense Urinary_tract COSM42029 TET2 c.3646C>T p.R1216* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1442320 PHF10 c.1184delC p.P395fs*>16 Deletion - Frameshift Large_intestine COSM1449430 KMT2C c.6416G>A p.R2139Q Substitution - Missense Large_intestine COSM1449460 KMT2C c.2182G>T p.E728* Substitution - Nonsense Large_intestine COSM1363138 BAZ2A c.2742C>T p.S914S Substitution - coding silent Large_intestine COSM1344640 RERE c.216G>A p.T72T Substitution - coding silent Large_intestine COSM1359418 HNF1A c.1163G>A p.S388N Substitution - Missense Large_intestine COSM1363776 CHD4 c.417G>T p.E139D Substitution - Missense Soft_tissue COSM1363776 CHD4 c.417G>T p.E139D Substitution - Missense Soft_tissue COSM1483639 CHD6 c.5670A>C p.V1890V Substitution - coding silent Breast COSM1609323 CREBBP c.1460C>A p.A487D Substitution - Missense Liver COSM1611272 CXXC1 c.1678G>A p.A560T Substitution - Missense Liver COSM1615458 DNMT3B c.1718G>T p.R573L Substitution - Missense Liver COSM1667419 MEAF6 c.517A>C p.N173H Substitution - Missense Large_intestine COSM1641673 BAZ2B c.3026G>T p.R1009L Substitution - Missense Stomach COSM1689314 TDRD5 c.1480G>A p.D494N Substitution - Missense Skin COSM1673336 TRRAP c.2087G>A p.R696H Substitution - Missense Prostate COSM1641322 DNMT3B c.1006G>C p.A336P Substitution - Missense Stomach COSM1943967 TDRD3 c.1938A>G p.P646P Substitution - coding silent Large_intestine COSM2080115 ZMYM1 c.1632G>A p.S544S Substitution - coding silent Large_intestine COSM2889480 DNMT3B c.225C>T p.D75D Substitution - coding silent Large_intestine COSM2931064 DIDO1 c.6161C>T p.A2054V Substitution - Missense Stomach COSM3341149 NSD1 c.4421A>C p.Q1474P Substitution - Missense Large_intestine COSM3377105 ARID1A c.2296C>T p.Q766* Substitution - Nonsense Skin COSM3487754 EYA3 c.413C>A p.S138Y Substitution - Missense Skin COSM3637558 STK31 c.2407C>T p.P803S Substitution - Missense Skin COSM3583115 SMYD5 c.298C>T p.Q100* Substitution - Nonsense Skin COSM3589838 MECOM c.2742G>A p.K914K Substitution - coding silent Skin COSM3567455 MBD5 c.2933C>T p.P978L Substitution - Missense Skin COSM3514768 RAI1 c.3577C>T p.P1193S Substitution - Missense Skin COSM3656842 TAF1L c.3614G>A p.R1205Q Substitution - Missense Skin COSM3697630 ARID1B c.5473C>T p.R1825C Substitution - Missense Large_intestine COSM3837123 BAZ2B c.5827G>A p.E1943K Substitution - Missense Breast COSM3882234 BAZ1B c.3621A>C p.K1207N Substitution - Missense Stomach COSM3901325 PRDM14 c.889G>A p.G297R Substitution - Missense Skin COSM3952680 KIAA1045 c.716C>A p.A239D Substitution - Missense Lung COSM4013628 ZMYND11 c.801C>T p.D267D Substitution - coding silent Stomach COSM4046369 ZMYM2 c.3281T>C p.V1094A Substitution - Missense Stomach COSM4111144 ATRX c.3682C>T p.P1228S Substitution - Missense Stomach COSM4104157 CBX6 c.571G>A p.G191R Substitution - Missense Stomach COSM4135555 TTF2 c.2369A>T p.E790V Substitution - Missense Pancreas COSM4129608 NCOR1 c.571G>A p.E191K Substitution - Missense Upper_aerodigestive_tract COSM4162014 KMT2C c.2534G>A p.G845E Substitution - Missense Skin COSM4162018 KMT2C c.2315C>T p.S772L Substitution - Missense Bone COSM4161727 PHF14 c.456A>C p.T152T Substitution - coding silent Oesophagus COSM4169965 EP300 c.4863C>A p.C1621* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4383944 TET2 c.4178C>T p.T1393I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4383950 TET2 c.4481C>G p.S1494* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4433624 SUV420H1 c.2615C>A p.S872Y Substitution - Missense Oesophagus COSM4494916 SETD1A c.4427C>T p.P1476L Substitution - Missense Skin COSM4467695 PRDM9 c.1503C>A p.G501G Substitution - coding silent Skin COSM4471375 DOT1L c.1715C>T p.S572F Substitution - Missense Skin COSM4700975 MBD4 c.1408T>G p.S470A Substitution - Missense Large_intestine COSM4681109 EP400 c.2178G>A p.S726S Substitution - coding silent Large_intestine COSM4671978 CHD3 c.1732T>C p.Y578H Substitution - Missense Large_intestine COSM4708357 NSD1 c.7752C>T p.V2584V Substitution - coding silent Large_intestine COSM4765105 ARID1A c.4550_4551insC p.Q1519fs*13 Insertion - Frameshift Liver COSM4631123 TDRD6 c.1718G>A p.G573D Substitution - Missense Large_intestine COSM4802465 DIDO1 c.4581G>A p.S1527S Substitution - coding silent Liver COSM4889952 SMARCA4 c.3450C>A p.F1150L Substitution - Missense Upper_aerodigestive_tract COSM4902209 DNMT1 c.2930C>T p.S977F Substitution - Missense Skin COSM4909142 KMT2C c.1050G>A p.P350P Substitution - coding silent Thyroid COSM4919272 NCOA2 c.1705A>G p.M569V Substitution - Missense Liver COSM4838232 PHF12 c.178G>A p.D60N Substitution - Missense Cervix COSM4827988 NCOR1 c.2173G>C p.D725H Substitution - Missense Cervix COSM4842946 BAZ2A c.535C>T p.R179W Substitution - Missense Cervix COSM4818367 GTF3C1 c.2878C>T p.R960C Substitution - Missense Cervix COSM4823312 KDM2A c.1065G>C p.Q355H Substitution - Missense Cervix COSM4984989 HNF1A c.1460G>A p.S487N Substitution - Missense Liver COSM4985350 EYA1 c.58C>G p.P20A Substitution - Missense Soft_tissue COSM4982436 ZMYM6 c.2450C>T p.S817F Substitution - Missense Oesophagus COSM4982659 KMT2D c.3090delT p.R1031fs*26 Deletion - Frameshift Oesophagus COSM5019785 NSD1 c.3705T>C p.N1235N Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5123126 PRMT1 c.572-4C>A p.? Unknown Large_intestine COSM5179753 CHD9 c.2103delA p.K703fs*7 Deletion - Frameshift Large_intestine COSM5350507 DPF1 c.665G>C p.G222A Substitution - Missense Lung COSM5442191 TDRD6 c.3416T>C p.I1139T Substitution - Missense Oesophagus COSM5420668 KMT2D c.1150G>A p.E384K Substitution - Missense Prostate COSM5771794 SMYD1 c.126G>C p.V42V Substitution - coding silent Breast COSM5724942 KMT2A c.6783C>T p.S2261S Substitution - coding silent Skin COSM5599757 KDM3A c.1219C>T p.P407S Substitution - Missense Skin COSM5552884 AP001011.3_ENST00000320876 c.4684G>A p.E1562K Substitution - Missense Prostate COSM5824110 PHF10 c.539+1G>A p.? Unknown Liver COSM5944413 EP300 c.5618_5622delCTCAG p.Q1874fs*7 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5916685 BRD4 c.1752-5C>T p.? Unknown Skin COSM5989469 KDM2B c.214G>T p.D72Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6017115 DOT1L c.1680C>T p.T560T Substitution - coding silent Skin COSM4172504 KDM6A c.? p.T726K Substitution - Missense Skin COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM144633 PHF6 c.? p.R335fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM52853 PBRM1 c.310delG p.E104fs*9 Deletion - Frameshift Kidney COSM5415903 TET2 c.? p.P555L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1666672 SETBP1 c.? p.E858K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43413 TET2 c.?_?ins? p.?fs Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM53155 TET2 c.? p.F1287fs*75 Frameshift Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4771392 PBRM1 c.97A>G p.R33G Substitution - Missense Kidney COSM1377819 CREBBP c.4874T>C p.M1625T Substitution - Missense Stomach COSM1636997 IDH2 c.515G>C p.R172T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1078486 BRPF3 c.1306G>T p.G436W Substitution - Missense Endometrium COSM136315 HDAC4 c.1088C>T p.P363L Substitution - Missense Skin COSM87117 TET2 c.3409+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3966768 RERE c.4698A>C p.L1566F Substitution - Missense Central_nervous_system COSM4021554 PRDM2 c.3461C>A p.S1154Y Substitution - Missense Stomach COSM981676 AKAP1 c.252C>T p.T84T Substitution - coding silent Endometrium COSM268528 TP53BP1 c.5197G>A p.A1733T Substitution - Missense Large_intestine COSM480488 ACTR8 c.1024C>T p.L342F Substitution - Missense Kidney COSM258981 ZCWPW2 c.134C>T p.S45L Substitution - Missense Large_intestine COSM5656319 CREBBP c.5034_5036delCTC p.S1680delS Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM5990200 HNF1A c.814C>T p.R272C Substitution - Missense Liver COSM5753366 PBRM1 c.? p.K1373fs*? Frameshift Kidney COSM3733522 NCOR1 c.59A>C p.Y20S Substitution - Missense Upper_aerodigestive_tract COSM4651751 TDRD1 c.3361G>A p.A1121T Substitution - Missense Large_intestine COSM4167427 CREBBP c.5560C>T p.Q1854* Substitution - Nonsense Central_nervous_system COSM4171146 SP100 c.1599_1600+2delAAGT p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5509551 DOT1L c.978T>A p.F326L Substitution - Missense Biliary_tract COSM3171719 NCOA7 c.2722G>A p.D908N Substitution - Missense Lung COSM5658442 PHC3 c.2144G>A p.R715Q Substitution - Missense Soft_tissue COSM429983 EED c.619C>T p.L207L Substitution - coding silent Soft_tissue COSM3113024 SRCAP c.8168G>A p.R2723H Substitution - Missense Liver COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Large_intestine COSM1246221 BRD8 c.2299C>T p.R767* Substitution - Nonsense Stomach COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM5030673 ATXN7 c.126_127insGCC p.P42_P43insA Insertion - In frame Bone COSM4601317 PHIP c.4061G>C p.R1354T Substitution - Missense Upper_aerodigestive_tract COSM3731810 KAT2A c.831G>A p.R277R Substitution - coding silent Stomach COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM249685 NCOR1 c.448G>A p.G150R Substitution - Missense Central_nervous_system COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM4604000 PHIP c.1041T>G p.V347V Substitution - coding silent Upper_aerodigestive_tract COSM3992493 KDM6A c.1577G>A p.G526E Substitution - Missense Pancreas COSM1060 SMARCB1 c.1144delG p.A382fs*4 Deletion - Frameshift Central_nervous_system COSM5945516 KDM6A c.3910C>T p.Q1304* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5476169 CHD6 c.1232C>T p.T411M Substitution - Missense Large_intestine COSM753648 TAF1L c.5320G>T p.E1774* Substitution - Nonsense Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM5990013 TET2 c.5635G>A p.E1879K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM4169955 DNMT3A c.2395C>G p.P799A Substitution - Missense Kidney COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM76530 SMC1A c.1877G>A p.R626H Substitution - Missense Large_intestine COSM3709523 HDAC4 c.1401G>T p.S467S Substitution - coding silent Liver COSM1735693 KMT2D c.? p.P808Q Substitution - Missense Skin COSM1368977 CHD8 c.7112delA p.N2371fs*6 Deletion - Frameshift Large_intestine COSM4952623 GTF3C4 c.1413G>T p.V471V Substitution - coding silent Liver COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1602162 ARID1A c.6767C>G p.S2256* Substitution - Nonsense Liver COSM4603590 KMT2C c.2448_2449insA p.I817fs*11 Insertion - Frameshift Upper_aerodigestive_tract COSM5358261 JHDM1D c.2243C>T p.T748M Substitution - Missense Large_intestine COSM3691045 CHD9 c.5223A>G p.P1741P Substitution - coding silent Large_intestine COSM3996276 PHF19 c.1490G>A p.R497H Substitution - Missense Kidney COSM944337 PHC1 c.1383T>G p.P461P Substitution - coding silent Endometrium COSM2810285 ASXL3 c.593delA p.I199fs*1 Deletion - Frameshift Large_intestine COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4590719 KAT2A c.1583C>T p.S528F Substitution - Missense Upper_aerodigestive_tract COSM87001 DNMT3A c.2644C>A p.R882S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5546790 HDAC9 c.1362_1369delTGCACCTT p.P456fs*38 Deletion - Frameshift Prostate COSM1108233 TAF1L c.2922T>C p.D974D Substitution - coding silent Endometrium COSM3551328 DNMT3L c.240C>T p.F80F Substitution - coding silent Skin COSM445988 TBL1XR1 c.419_420insCA p.A142fs*1 Insertion - Frameshift Breast COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Urinary_tract COSM4802768 PRDM8 c.116C>T p.A39V Substitution - Missense Liver COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Skin COSM259540 ATAD2B_ENST00000238789 c.881G>A p.R294Q Substitution - Missense Large_intestine COSM5641026 PHF3 c.2709G>C p.K903N Substitution - Missense Oesophagus COSM1642928 ARID1B c.3169C>T p.R1057* Substitution - Nonsense Skin COSM4989857 IKZF1 c.? p.V341fs Frameshift Haematopoietic_and_lymphoid_tissue COSM1267057 SUV39H1 c.703C>T p.R235C Substitution - Missense Oesophagus COSM1463732 PHF2 c.1774C>T p.R592* Substitution - Nonsense Large_intestine COSM3739785 BAZ2A c.3406T>C p.F1136L Substitution - Missense Liver COSM364004 PRDM9 c.967C>A p.R323R Substitution - coding silent Lung COSM5966905 TDRD1 c.3016T>A p.F1006I Substitution - Missense Adrenal_gland COSM51479 ARID1A c.4851_4851delT p.P1619fs*7 Deletion - Frameshift Ovary COSM1709149 BRD7 c.712C>T p.Q238* Substitution - Nonsense Skin COSM5969319 ARID1A c.3015T>C p.N1005N Substitution - coding silent Upper_aerodigestive_tract COSM5723832 PRDM1 c.1618G>A p.E540K Substitution - Missense Skin COSM5015990 SETD2 c.5959delC p.R1987fs*23 Deletion - Frameshift Kidney COSM4071708 AP001011.3_ENST00000320876 c.4378T>C p.Y1460H Substitution - Missense Stomach COSM5943608 LBR c.893-5delT p.? Unknown Skin COSM4703528 MTF2 c.15_16insG p.A7fs*3 Insertion - Frameshift Large_intestine COSM3236588 HCFC1 c.1520A>G p.N507S Substitution - Missense Large_intestine COSM5759032 SETD1A c.4134_4136delCAG p.S1383delS Deletion - In frame Bone COSM1242397 JMJD1C c.127C>T p.R43C Substitution - Missense Oesophagus COSM3523582 BAHCC1 c.1450C>T p.P484S Substitution - Missense Skin COSM2158595 JMJD1C c.629delA p.N210fs*32 Deletion - Frameshift Large_intestine COSM5561840 KDM5C c.56C>A p.P19H Substitution - Missense Prostate COSM442459 SP100 c.2242G>C p.E748Q Substitution - Missense Breast COSM1267358 TAF1L c.4799A>C p.K1600T Substitution - Missense Oesophagus COSM1720506 SMYD1 c.370_371GG>AA p.G124N Substitution - Missense Skin COSM135812 DNMT1 c.3514C>T p.P1172S Substitution - Missense Skin COSM340540 TDRD5 c.1511T>C p.I504T Substitution - Missense Lung COSM969945 SRCAP c.7318G>T p.A2440S Substitution - Missense Endometrium COSM3557170 MSL3 c.1284C>T p.V428V Substitution - coding silent Skin COSM4960936 EHMT2 c.931G>A p.E311K Substitution - Missense Liver COSM4646134 ARID1B c.5096G>T p.R1699M Substitution - Missense Large_intestine COSM3367340 WHSC1L1 c.287C>A p.S96* Substitution - Nonsense Kidney COSM75417 MINA c.1019C>G p.P340R Substitution - Missense Ovary COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1103 SMARCB1 c.?_?del? p.?del Deletion - In frame Soft_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5886535 KMT2C c.8228C>T p.P2743L Substitution - Missense Skin COSM1194585 NSD1 c.3331G>T p.D1111Y Substitution - Missense Lung COSM4054479 INOC1 c.604C>T p.R202W Substitution - Missense Stomach COSM1076449 HDGFL1 c.103C>T p.P35S Substitution - Missense Endometrium COSM999376 PRMT1 c.699C>G p.I233M Substitution - Missense Endometrium COSM5966804 TP53BP1 c.3145C>T p.R1049* Substitution - Nonsense Adrenal_gland COSM5005189 KMT2C c.760C>T p.R254C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM255122 MEN1 c.? p.L152F Substitution - Missense Parathyroid COSM4394621 MGMT c.23A>G p.K8R Substitution - Missense Skin COSM5967200 BAP1 c.1552_1553insCC p.R518fs*54 Insertion - Frameshift Salivary_gland COSM96917 TET2 c.(1998_2001)insT p.(H667_H668)fs*(13_14) Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3598218 BRPF1 c.493C>T p.H165Y Substitution - Missense Skin COSM255676 ZMYM3 c.3595C>G p.Q1199E Substitution - Missense Central_nervous_system COSM5409822 PRDM14 c.1229C>T p.T410I Substitution - Missense Skin COSM5547664 ARID1A c.6204delG p.Q2070fs*65 Deletion - Frameshift Prostate COSM5626151 NCOA7 c.507A>G p.L169L Substitution - coding silent Oesophagus COSM4804494 L3MBTL3 c.537G>T p.L179L Substitution - coding silent Liver COSM4098443 CHD6 c.6325T>G p.L2109V Substitution - Missense Stomach COSM4469566 EPC1 c.1605C>T p.S535S Substitution - coding silent Skin COSM5347453 ATAD2B_ENST00000238789 c.2708_2711delGAAG p.R903fs*7 Deletion - Frameshift Liver COSM4043681 BAZ2A_ENST00000379441 c.1580A>G p.E527G Substitution - Missense Stomach COSM5357520 TDRD6 c.5621C>T p.P1874L Substitution - Missense Large_intestine COSM5349459 CHD4 c.2768G>A p.R923K Substitution - Missense Liver COSM34192 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM21478 HNF1A c.618G>T p.W206C Substitution - Missense Liver COSM5749345 DHX30 c.214G>A p.D72N Substitution - Missense Genital_tract COSM431192 KDM5A c.349C>A p.L117M Substitution - Missense Breast COSM3614502 NSD1 c.2865T>C p.V955V Substitution - coding silent Skin COSM3899937 ASH2L c.1356T>C p.G452G Substitution - coding silent Stomach COSM3578885 SP140 c.351G>A p.R117R Substitution - coding silent Skin COSM84489 SMARCA4 c.3469C>T p.R1157W Substitution - Missense Pancreas COSM4637510 TRIM24 c.1349G>T p.G450V Substitution - Missense Large_intestine COSM4981121 TRIM24 c.1082A>G p.H361R Substitution - Missense Oesophagus COSM3509894 GLYR1 c.846C>T p.I282I Substitution - coding silent Skin COSM4663952 ATAT1 c.260+2delT p.? Unknown Large_intestine COSM3738166 CHD7 c.5494G>C p.E1832Q Substitution - Missense Soft_tissue COSM3435833 PWWP2B c.808C>T p.P270S Substitution - Missense Skin COSM4756489 ATXN7 c.1970C>G p.S657C Substitution - Missense Stomach COSM1645515 KMT2A c.4897C>T p.R1633* Substitution - Nonsense Large_intestine COSM1643096 TDRD6 c.6046+10delT p.? Unknown Stomach COSM3148809 DNMT1 c.1326C>A p.I442I Substitution - coding silent Large_intestine COSM5964145 HDAC4 c.978+9G>A p.? Unknown Breast COSM133726 DNMT3A c.1572T>A p.C524* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1615491 NCOA6 c.5963-2A>G p.? Unknown Liver COSM52905 PBRM1 c.3199delA p.T1067fs*92 Deletion - Frameshift Kidney COSM1183572 ARID2 c.881G>T p.R294I Substitution - Missense Skin COSM4694954 KDM4A c.2592C>T p.A864A Substitution - coding silent Large_intestine COSM4776415 PRDM15 c.258_259insC p.R88fs*46 Insertion - Frameshift Soft_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3474955 ASH1L c.7091G>A p.R2364Q Substitution - Missense Skin COSM3839023 ATAD2B_ENST00000238789 c.4034C>A p.P1345H Substitution - Missense Breast COSM4992716 DAXX c.71C>T p.P24L Substitution - Missense Skin COSM3820453 PHF23 c.536G>A p.R179Q Substitution - Missense Breast COSM1707159 PRMT5 c.1621C>T p.P541S Substitution - Missense Skin COSM4736779 TRRAP c.6205A>G p.K2069E Substitution - Missense Large_intestine COSM2001128 EP400 c.6836G>A p.R2279Q Substitution - Missense Pancreas COSM1019117 NCOA1 c.252A>G p.E84E Substitution - coding silent Endometrium COSM3439581 JMJD1C c.2625C>T p.F875F Substitution - coding silent Skin COSM919454 JMJD1C c.5912C>T p.A1971V Substitution - Missense Endometrium COSM4111260 BRWD3 c.5379G>A p.R1793R Substitution - coding silent Stomach COSM536715 BRDT c.858G>T p.K286N Substitution - Missense Large_intestine COSM224615 EP300 c.4925C>T p.S1642F Substitution - Missense Skin COSM2758214 NCOA6 c.1422G>A p.P474P Substitution - coding silent Upper_aerodigestive_tract COSM4107981 HCFC1 c.2662C>A p.P888T Substitution - Missense Stomach COSM4691740 IDH1 c.487C>A p.Q163K Substitution - Missense Large_intestine COSM5913389 HDAC7 c.1999C>T p.P667S Substitution - Missense Skin COSM5776403 ING3 c.288G>C p.K96N Substitution - Missense Breast COSM4143738 ARID1A c.2002A>T p.S668C Substitution - Missense Thyroid COSM3760322 TET2 c.5284A>G p.I1762V Substitution - Missense Prostate COSM4928129 DOT1L c.1828G>T p.D610Y Substitution - Missense Liver COSM5507673 CARM1 c.86T>A p.V29E Substitution - Missense Biliary_tract COSM5611022 TRRAP c.6047C>T p.S2016F Substitution - Missense Skin COSM4632023 KDM4D c.1358G>A p.R453H Substitution - Missense Large_intestine COSM1087611 KMT2C c.4273G>A p.G1425S Substitution - Missense Endometrium COSM1239826 PHRF1 c.2078G>A p.R693Q Substitution - Missense Oesophagus COSM3492899 RERE c.4006C>T p.P1336S Substitution - Missense Skin COSM921429 BTAF1 c.2322G>A p.M774I Substitution - Missense Endometrium COSM1177162 RUVBL1 c.634G>T p.E212* Substitution - Nonsense Endometrium COSM3113014 SRCAP c.7727C>G p.S2576* Substitution - Nonsense Central_nervous_system COSM1030471 SETD4 c.625G>A p.V209M Substitution - Missense Endometrium COSM4949944 ARID1A c.1653C>G p.Y551* Substitution - Nonsense Liver COSM5980111 DPF2 c.896G>A p.G299D Substitution - Missense Upper_aerodigestive_tract COSM1492489 PRDM10 c.1788T>C p.L596L Substitution - coding silent Kidney COSM1132259 ATRX c.660T>G p.C220W Substitution - Missense Prostate COSM3726820 YY1 c.682delG p.E228fs*28 Deletion - Frameshift Lung COSM4645009 BTAF1 c.3621G>A p.T1207T Substitution - coding silent Large_intestine COSM4653348 EPC2 c.634C>T p.R212W Substitution - Missense Large_intestine COSM1622313 SND1 c.1959delG p.E655fs*15 Deletion - Frameshift Liver COSM3652165 TDRD7 c.412C>T p.P138S Substitution - Missense Skin COSM4119375 ACTR8 c.896C>G p.S299C Substitution - Missense Stomach COSM5953795 TDRD7 c.2171C>G p.T724R Substitution - Missense Upper_aerodigestive_tract COSM4022245 POGZ c.1688A>C p.K563T Substitution - Missense Stomach COSM3632395 ING3 c.896G>T p.G299V Substitution - Missense Skin COSM5923052 SETDB2 c.580C>T p.P194S Substitution - Missense Skin COSM3421371 PHF12 c.2220C>T p.I740I Substitution - coding silent Large_intestine COSM4652496 DMAP1 c.706C>T p.R236W Substitution - Missense Large_intestine COSM5721935 KMT2D c.7901C>T p.P2634L Substitution - Missense Skin COSM5627442 ATF7IP c.33C>A p.V11V Substitution - coding silent Oesophagus COSM3839161 DNMT3A c.1815C>T p.L605L Substitution - coding silent Breast COSM2153183 SETD1A c.131G>A p.G44E Substitution - Missense Central_nervous_system COSM3508992 SETD1A c.5115C>T p.S1705S Substitution - coding silent Skin COSM2183627 POGZ c.1505G>A p.R502K Substitution - Missense Large_intestine COSM1300497 PRMT5 c.73G>A p.E25K Substitution - Missense Urinary_tract COSM3622176 JARID2 c.1607C>T p.P536L Substitution - Missense Skin COSM2023460 PWWP2B c.251delC p.P86fs*100 Deletion - Frameshift Large_intestine COSM3396780 BAG6 c.325C>G p.H109D Substitution - Missense Breast COSM5791077 TBL1XR1 c.428-1G>C p.? Unknown Breast COSM5555946 ASXL1 c.2112G>A p.G704G Substitution - coding silent Prostate COSM1636620 BRWD3 c.2196A>G p.R732R Substitution - coding silent Liver COSM1737676 TAF1L c.4526G>A p.R1509H Substitution - Missense Large_intestine COSM1371929 SETD3 c.1456C>T p.R486W Substitution - Missense Large_intestine COSM4695030 KDM6A c.174G>A p.G58G Substitution - coding silent Large_intestine COSM1188476 ARID2 c.2743A>G p.I915V Substitution - Missense Lung COSM3850438 KDM3B c.2792A>G p.D931G Substitution - Missense Stomach COSM1439941 HDAC2 c.1375delA p.T459fs*>30 Deletion - Frameshift Large_intestine COSM4111148 ATRX c.2803G>A p.E935K Substitution - Missense Stomach COSM3596189 PBRM1 c.2149A>T p.K717* Substitution - Nonsense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM228110 KMT2C c.1042G>A p.D348N Substitution - Missense Soft_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1377474 SRCAP c.5625_5626insC p.P1879fs*21 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5002512 KDM4D c.837C>A p.Y279* Substitution - Nonsense Pancreas COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4472665 PHF15 c.179C>T p.A60V Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5461338 BRWD3 c.552C>T p.Y184Y Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5631216 TTF2 c.155T>C p.L52S Substitution - Missense Oesophagus COSM4042350 KMT2D c.12593G>A p.R4198Q Substitution - Missense Stomach COSM3665405 ARID2 c.5022delT p.Q1676fs*25 Deletion - Frameshift Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM468077 ATF7IP c.2922A>G p.E974E Substitution - coding silent Kidney COSM4061201 CHD9 c.6937G>A p.E2313K Substitution - Missense Stomach COSM1100894 CHD7 c.7525A>G p.M2509V Substitution - Missense Endometrium COSM1124884 TAF1 c.2053G>A p.E685K Substitution - Missense Endometrium COSM5421602 SMARCD2 c.233G>C p.G78A Substitution - Missense Prostate COSM1118561 RBBP7 c.1098+4C>T p.? Unknown Endometrium COSM1607483 CHD8 c.4238A>G p.D1413G Substitution - Missense Liver COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM13869 ERCC6 c.3355_3356GA>CT p.E1119L Substitution - Missense Breast COSM1607780 ARID4A c.1436C>A p.S479Y Substitution - Missense Liver COSM4383803 TET2 c.1355delA p.E452fs*34 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4419037 TDRD3 c.1839+8A>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM300279 DHX30 c.1478G>A p.R493H Substitution - Missense Large_intestine COSM5550665 PRMT7 c.253G>A p.A85T Substitution - Missense Prostate COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM1238061 IKZF1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM2823477 SMYD1 c.1385G>A p.R462H Substitution - Missense Oesophagus COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM4584533 PHF7 c.625A>C p.N209H Substitution - Missense Bone COSM99740 DNMT3A c.2645G>C p.R882P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4979974 MBD5 c.1367C>T p.S456L Substitution - Missense Oesophagus COSM2949875 MINA c.1019delC p.P340fs*23 Deletion - Frameshift Large_intestine COSM30577 SMARCA4 c.2653C>T p.R885C Substitution - Missense Large_intestine COSM216817 CHD7 c.3048T>A p.H1016Q Substitution - Missense Pancreas COSM1015786 TET2 c.73T>C p.C25R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM470607 RTF1 c.1308-2A>T p.? Unknown Kidney COSM2961647 MYST3 c.5868A>G p.G1956G Substitution - coding silent Upper_aerodigestive_tract COSM3636501 KMT2C c.6531G>A p.Q2177Q Substitution - coding silent Skin COSM972487 CTCF c.1129C>T p.R377C Substitution - Missense Large_intestine COSM4579905 AKAP1 c.1669G>T p.A557S Substitution - Missense Bone COSM1734697 SMARCC1 c.402-3delT p.? Unknown Biliary_tract COSM4049871 CHD8 c.852G>A p.S284S Substitution - coding silent Stomach COSM132968 ASXL1 c.? p.E635fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM1060897 PHF15 c.1467C>T p.R489R Substitution - coding silent Breast COSM5573512 CHD2 c.63-1G>A p.? Unknown Prostate COSM333966 ALKBH1 c.409A>G p.K137E Substitution - Missense Lung COSM3108654 JMJD5 c.894C>T p.G298G Substitution - coding silent Large_intestine COSM4608929 ADNP c.1625C>A p.P542H Substitution - Missense Adrenal_gland COSM1494250 SMARCA4 c.3203G>A p.G1068D Substitution - Missense Kidney COSM946210 RNF17 c.1831G>A p.V611I Substitution - Missense Endometrium COSM21300 TRRAP c.7323C>T p.F2441F Substitution - coding silent Skin COSM28806 KDM6A c.226-?_875+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM29495 SMARCB1 c.1145delC p.P383fs*4 Deletion - Frameshift Central_nervous_system COSM20440 TAF1 c.1937delA p.K646fs*4 Deletion - Frameshift Large_intestine COSM51441 ARID1A c.5161C>T p.R1721* Substitution - Nonsense Endometrium COSM50956 EP400 c.8658G>A p.P2886P Substitution - coding silent Breast COSM87130 TET2 c.3781C>T p.R1261C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM126839 NSD1 c.5130C>A p.C1710* Substitution - Nonsense Upper_aerodigestive_tract COSM144516 TET2 c.1842_1843insG p.L615fs*23 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM166406 CREBBP c.4231G>A p.G1411R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM227400 TCF20 c.5477C>T p.P1826L Substitution - Missense Skin COSM225894 GLYATL1 c.914G>A p.R305H Substitution - Missense Skin COSM237144 PRDM16 c.1869G>A p.S623S Substitution - coding silent Prostate COSM254840 NCOR1 c.197G>A p.R66Q Substitution - Missense Urinary_tract COSM255016 KDM6A c.1105C>T p.Q369* Substitution - Nonsense Urinary_tract COSM269879 PHIP c.3288T>C p.P1096P Substitution - coding silent Large_intestine COSM282118 KDM4A c.673+7T>C p.? Unknown Large_intestine COSM301033 EYA2 c.463G>A p.G155S Substitution - Missense Large_intestine COSM315120 SFMBT2 c.1307G>T p.R436L Substitution - Missense Lung COSM352899 ARID1A c.3068G>T p.W1023L Substitution - Missense Lung COSM368387 TAF1 c.4324C>T p.R1442W Substitution - Missense Stomach COSM450261 PRDM1 c.496C>T p.R166W Substitution - Missense Breast COSM440561 TRIM28 c.1128C>G p.L376L Substitution - coding silent Breast COSM456720 SMARCA1 c.1384C>G p.H462D Substitution - Missense Breast COSM460901 ZBTB38 c.3060G>C p.Q1020H Substitution - Missense Cervix COSM473843 SETBP1 c.4144G>A p.A1382T Substitution - Missense Kidney COSM478609 PRDM15 c.2151C>A p.L717L Substitution - coding silent Kidney COSM1600465 PRMT6 c.823G>C p.D275H Substitution - Missense Liver COSM976053 SMYD4 c.1275C>A p.V425V Substitution - coding silent Endometrium COSM981674 AKAP1 c.60C>T p.L20L Substitution - coding silent Upper_aerodigestive_tract COSM480297 BAP1 c.3G>A p.M1I Substitution - Missense Kidney COSM953997 MTA1 c.34G>A p.V12I Substitution - Missense Large_intestine COSM1025722 ASXL1 c.804C>T p.I268I Substitution - coding silent Endometrium COSM698264 ARID4A c.2442G>T p.Q814H Substitution - Missense Lung COSM896902 ASH1L c.8500C>T p.R2834* Substitution - Nonsense Large_intestine COSM969943 SRCAP c.7268C>T p.T2423I Substitution - Missense Endometrium COSM1125519 ATRX c.126A>C p.Q42H Substitution - Missense Endometrium COSM1133684 MECOM c.2710_2711GA>AT p.E904I Substitution - Missense Urinary_tract COSM1080962 PHF3 c.4483G>T p.E1495* Substitution - Nonsense Endometrium COSM1084052 PHF14 c.1569_1570delAG p.K527fs*51 Deletion - Frameshift Skin COSM1242007 ARID1A c.3211delA p.K1072fs*21 Deletion - Frameshift Endometrium COSM1230307 TIF1 c.623T>C p.V208A Substitution - Missense Large_intestine COSM1239928 PRDM8 c.621C>T p.G207G Substitution - coding silent Oesophagus COSM1197087 BAZ1B c.3914C>T p.P1305L Substitution - Missense Lung COSM1195766 MBD5 c.2057A>G p.D686G Substitution - Missense Lung COSM1693781 MECOM c.965C>T p.S322F Substitution - Missense Skin COSM1605807 EP400 c.108G>C p.P36P Substitution - coding silent Liver COSM1301957 CREBBP c.4505G>A p.W1502* Substitution - Nonsense Urinary_tract COSM1377817 CREBBP c.5204C>T p.T1735M Substitution - Missense Large_intestine COSM1441794 JARID2 c.1732C>T p.R578C Substitution - Missense Large_intestine COSM1453420 ZCWPW1 c.179delT p.L60fs*1 Deletion - Frameshift Large_intestine COSM1443055 ATAT1 c.894delC p.P300fs*>24 Deletion - Frameshift Large_intestine COSM1363350 MBD6 c.2338delG p.G782fs*13 Deletion - Frameshift Large_intestine COSM1358320 HCFC2 c.168G>A p.T56T Substitution - coding silent Large_intestine COSM1534243 DIDO1 c.4751G>A p.R1584H Substitution - Missense Oesophagus COSM1494674 BAZ2B c.885T>A p.H295Q Substitution - Missense Kidney COSM1616071 BRWD1 c.4030T>G p.L1344V Substitution - Missense Liver COSM1581807 TAF1L c.2350A>T p.I784F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1622395 TRIM24 c.1912_1913insT p.V639fs*6 Insertion - Frameshift Liver COSM1717487 TET2 c.4537+49T>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM2080115 ZMYM1 c.1632G>A p.S544S Substitution - coding silent Large_intestine COSM2152399 HCFC1 c.117C>A p.L39L Substitution - coding silent Central_nervous_system COSM2270906 MGA c.7334G>A p.R2445Q Substitution - Missense Pancreas COSM2265178 ZMYM2 c.783_794del12 p.G262_N265delGRMN Deletion - In frame Bone COSM2758143 NCOA6 c.4863G>A p.Q1621Q Substitution - coding silent Large_intestine COSM3390546 SCML2 c.943A>G p.K315E Substitution - Missense Pancreas COSM3377106 ARID1A c.6203C>T p.S2068L Substitution - Missense Pancreas COSM3409080 PRMT10 c.749C>T p.S250F Substitution - Missense Central_nervous_system COSM3399818 HDGF c.486G>A p.L162L Substitution - coding silent Central_nervous_system COSM3432490 CHD7 c.8594C>T p.S2865L Substitution - Missense Large_intestine COSM3637032 HDAC9 c.1301C>T p.S434L Substitution - Missense Skin COSM3552573 SMARCB1 c.885G>A p.L295L Substitution - coding silent Skin COSM3528433 SMARCA4 c.3918C>T p.I1306I Substitution - coding silent Skin COSM3525853 SETBP1 c.1687C>T p.P563S Substitution - Missense Skin COSM3528097 DNMT1 c.3737C>T p.S1246F Substitution - Missense Skin COSM3656835 TAF1L c.4428G>A p.A1476A Substitution - coding silent Skin COSM3712014 SETD1A c.1280C>A p.P427H Substitution - Missense Upper_aerodigestive_tract COSM3763348 MYST3 c.2982G>A p.P994P Substitution - coding silent Thyroid COSM3766400 UHRF1 c.1704C>T p.Y568Y Substitution - coding silent Liver COSM3801560 PRDM2 c.2299G>A p.G767R Substitution - Missense Breast COSM3809985 MEN1 c.323G>C p.R108P Substitution - Missense Breast COSM3787627 LMNB2 c.1493C>T p.T498M Substitution - Missense Pancreas COSM3855023 NIPBL c.4542A>C p.E1514D Substitution - Missense Stomach COSM3853950 NSD1 c.1732G>T p.A578S Substitution - Missense Stomach COSM3937727 ASXL3 c.2523C>T p.S841S Substitution - coding silent Oesophagus COSM3820047 AKAP1 c.1233T>G p.A411A Substitution - coding silent Breast COSM3830350 BRPF3 c.2957G>A p.G986E Substitution - Missense Breast COSM3878483 TIF1 c.819A>G p.L273L Substitution - coding silent Stomach COSM3954744 KDM5A c.2293G>A p.V765I Substitution - Missense Lung COSM3981194 BTAF1 c.4114C>A p.Q1372K Substitution - Missense Ovary COSM4015205 SIRT1 c.596G>A p.R199Q Substitution - Missense Stomach COSM4086769 HAT1 c.1092G>T p.K364N Substitution - Missense Stomach COSM4081548 SUV420H2 c.991C>T p.R331W Substitution - Missense Stomach COSM4108374 RBBP7 c.1007G>A p.G336D Substitution - Missense Stomach COSM4134606 EYA2 c.1160T>G p.V387G Substitution - Missense Upper_aerodigestive_tract COSM4161998 KMT2C c.2726G>A p.R909K Substitution - Missense Upper_aerodigestive_tract COSM4162010 KMT2C c.2573G>T p.W858L Substitution - Missense Large_intestine COSM4383544 DNMT3A c.2194T>C p.F732L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4385111 ASXL1 c.2755A>G p.I919V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4385244 EP300 c.2359G>A p.G787S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4390936 HDAC4 c.1132C>G p.L378V Substitution - Missense Breast COSM4401342 CHD6 c.2215A>C p.M739L Substitution - Missense Skin COSM4393829 DNMT1 c.4182C>T p.S1394S Substitution - coding silent Skin COSM4605873 ASH1L c.7490C>G p.T2497S Substitution - Missense Upper_aerodigestive_tract COSM4564444 HDAC3 c.1198_1199CC>TT p.P400F Substitution - Missense Skin COSM4558899 JMJD5 c.670G>A p.E224K Substitution - Missense Skin COSM4565958 TAF1L c.2777_2778CC>TT p.S926F Substitution - Missense Skin COSM4506764 DNMT1 c.680C>T p.S227L Substitution - Missense Skin COSM4486116 EHMT1 c.2921C>T p.P974L Substitution - Missense Skin COSM4515444 PHF1 c.1111_1112CC>TT p.P371L Substitution - Missense Skin COSM4474521 CHD2 c.1927C>T p.L643L Substitution - coding silent Skin COSM4725905 SHPRH c.4233T>C p.L1411L Substitution - coding silent Large_intestine COSM4681095 EP300 c.6166C>T p.R2056W Substitution - Missense Large_intestine COSM4698237 LMNB1 c.1559C>T p.S520L Substitution - Missense Large_intestine COSM4643135 SND1 c.2134G>T p.E712* Substitution - Nonsense Large_intestine COSM4623113 TP53BP1 c.4697G>T p.G1566V Substitution - Missense Large_intestine COSM4611655 HDAC2 c.33delA p.V12fs*20 Deletion - Frameshift Prostate COSM4771521 TET2 c.4537G>C p.E1513Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4648976 KDM1B c.1304C>T p.P435L Substitution - Missense Large_intestine COSM4799970 PRMT10 c.2462A>C p.Q821P Substitution - Missense Liver COSM4778495 DNMT3A c.324G>A p.G108G Substitution - coding silent Liver COSM4915706 EHMT1 c.3039C>T p.N1013N Substitution - coding silent Liver COSM4934766 BMI1 c.722A>G p.D241G Substitution - Missense Liver COSM4900609 SETBP1 c.2831G>A p.S944N Substitution - Missense Skin COSM4854308 KIAA2026_ENST00000399933 c.189G>A p.M63I Substitution - Missense Cervix COSM4834507 SRCAP c.4717C>G p.L1573V Substitution - Missense Cervix COSM4829301 ING1 c.457C>T p.Q153* Substitution - Nonsense Cervix COSM4996758 PHIP c.5066C>G p.S1689C Substitution - Missense Upper_aerodigestive_tract COSM4995442 RBBP4 c.1064C>G p.S355C Substitution - Missense Upper_aerodigestive_tract COSM5020622 KMT2A c.5670A>G p.L1890L Substitution - coding silent Soft_tissue COSM5093235 PHC3 c.1396T>C p.S466P Substitution - Missense Large_intestine COSM5365970 ASXL1 c.1454C>T p.S485F Substitution - Missense Large_intestine COSM5490597 PBRM1 c.2567G>T p.R856L Substitution - Missense Biliary_tract COSM5500200 CBX2 c.652G>A p.A218T Substitution - Missense Biliary_tract COSM5465841 ZCWPW2 c.764C>A p.A255D Substitution - Missense Large_intestine COSM5484903 SMARCD3 c.1145C>A p.T382K Substitution - Missense Large_intestine COSM5636505 BRDT c.1229A>G p.N410S Substitution - Missense Oesophagus COSM5646808 ZMYND8 c.40G>A p.E14K Substitution - Missense Oesophagus COSM5611778 DAXX c.2067C>A p.P689P Substitution - coding silent Adrenal_gland COSM5734168 CHD4 c.2374C>T p.R792W Substitution - Missense Pancreas COSM5608290 DNMT3A c.1993G>A p.V665M Substitution - Missense Skin COSM5710325 ING3 c.1081C>T p.R361* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5835368 KMT2C c.3926delG p.G1309fs*22 Deletion - Frameshift Breast COSM5878959 TET2 c.1719delC p.Q574fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5944872 PHF6 c.788_789insCCGTC p.D264fs*17 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5912927 KIAA2026_ENST00000399933 c.3689C>T p.S1230F Substitution - Missense Skin COSM5963639 NCOA6 c.3489G>C p.M1163I Substitution - Missense Breast COSM5954413 SRCAP c.1024C>G p.Q342E Substitution - Missense Upper_aerodigestive_tract COSM5990324 EP400 c.3959A>C p.N1320T Substitution - Missense Liver COSM5998049 PHF20L1 c.413A>G p.E138G Substitution - Missense Prostate COSM5985237 NSD1 c.7573G>A p.D2525N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM43409 TET2 c.? p.?fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144548 DNMT3A c.? p.G543C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM253005 HNF1A c.1131delC p.P379fs*5 Deletion - Frameshift Large_intestine COSM86082 KMT2C c.2418C>G p.S806S Substitution - coding silent Skin COSM86082 KMT2C c.2418C>G p.S806S Substitution - coding silent Thyroid COSM4891250 EZH1 c.260G>T p.S87I Substitution - Missense Upper_aerodigestive_tract COSM4795523 PRDM16 c.1642C>T p.P548S Substitution - Missense Liver COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM1344882 BRDT c.1499A>C p.K500T Substitution - Missense Large_intestine COSM4915295 SRCAP c.1053T>C p.S351S Substitution - coding silent Liver COSM6012938 JHDM1D c.1526G>A p.R509K Substitution - Missense Skin COSM5031025 KDM6A c.? p.E1335* Substitution - Nonsense Central_nervous_system COSM1030941 PRDM15 c.3174C>T p.C1058C Substitution - coding silent Endometrium COSM483989 BRPF3 c.1760T>C p.M587T Substitution - Missense Kidney COSM1095757 ATAD2 c.2323T>G p.F775V Substitution - Missense Endometrium COSM4388033 KMT2C c.2748C>T p.I916I Substitution - coding silent Prostate COSM5614630 DOT1L c.964-1G>C p.? Unknown Lung COSM1479381 PHF12 c.1968T>A p.D656E Substitution - Missense Breast COSM4445252 DAXX c.1669_1669delC p.L557fs*13 Deletion - Frameshift Adrenal_gland COSM4725186 SETDB1 c.608G>A p.R203Q Substitution - Missense Large_intestine COSM4886436 SETD1B c.729C>A p.G243G Substitution - coding silent Upper_aerodigestive_tract COSM1177676 TRRAP c.5035G>A p.A1679T Substitution - Missense Endometrium COSM24914 HNF1A c.811_818delCGGCGCAA p.K273fs*41 Deletion - Frameshift Liver COSM51229 ARID1A c.6718_6719insG p.A2240fs*38 Insertion - Frameshift Ovary COSM220500 CREBBP c.4873A>G p.M1625V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3733522 NCOR1 c.59A>C p.Y20S Substitution - Missense Central_nervous_system COSM4692729 INTS12 c.191_192insA p.N64fs*5 Insertion - Frameshift Large_intestine COSM3670836 MTA2 c.1889G>C p.R630P Substitution - Missense Prostate COSM556310 MORF4L1 c.923G>A p.R308Q Substitution - Missense Cervix COSM5506848 NIPBL c.3137C>G p.S1046* Substitution - Nonsense Biliary_tract COSM2229065 EP400 c.2113C>T p.R705W Substitution - Missense Liver COSM4590380 KMT2C c.7443A>T p.R2481S Substitution - Missense Upper_aerodigestive_tract COSM4054569 MGA c.5520T>C p.P1840P Substitution - coding silent Stomach COSM5880187 KMT2C c.8453T>C p.V2818A Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5716522 HDAC10 c.1548G>A p.R516R Substitution - coding silent Skin COSM3528451 SMARCA4 c.4692C>T p.I1564I Substitution - coding silent Skin COSM1750520 SETBP1 c.194C>T p.S65L Substitution - Missense Urinary_tract COSM5394462 EPC2 c.1772T>C p.V591A Substitution - Missense Skin COSM4428170 SUZ12 c.1993G>A p.D665N Substitution - Missense Oesophagus COSM3824032 SMARCC1 c.2506G>A p.E836K Substitution - Missense Breast COSM254550 ARID1A c.4477C>T p.Q1493* Substitution - Nonsense Urinary_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM4953289 DOT1L c.2345G>T p.R782M Substitution - Missense Liver COSM4930812 ARID1B c.6295A>T p.R2099W Substitution - Missense Liver COSM2041406 KDM2A c.2723G>A p.R908K Substitution - Missense Upper_aerodigestive_tract COSM3545567 NCOA6 c.773C>T p.P258L Substitution - Missense Skin COSM3834974 NCOA2 c.2933G>A p.G978E Substitution - Missense Breast COSM4171816 MYST3 c.2816G>C p.R939T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3567449 MBD5 c.2089C>T p.P697S Substitution - Missense Skin COSM5601535 GABRG1 c.1318G>T p.D440Y Substitution - Missense Skin COSM1676176 DPF2 c.184C>T p.R62W Substitution - Missense Large_intestine COSM4877367 SMARCC2 c.643T>C p.W215R Substitution - Missense Prostate COSM3160313 PHF3 c.4043G>A p.R1348H Substitution - Missense Oesophagus COSM5490945 TET2 c.4312delA p.K1439fs*9 Deletion - Frameshift Biliary_tract COSM1196453 DNMT3B c.14C>G p.T5S Substitution - Missense Lung COSM4687314 GLYR1 c.1107T>C p.T369T Substitution - coding silent Large_intestine COSM3598870 TET2 c.3281A>T p.K1094I Substitution - Missense Skin COSM3839581 CAMKMT c.215C>T p.S72L Substitution - Missense Breast COSM4766118 TET2 c.3626T>C p.L1209P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5409622 MYST3 c.2592G>A p.R864R Substitution - coding silent Skin COSM23060 MEN1 c.654+2T>A p.? Unknown Pancreas COSM3850434 KDM3B c.778G>A p.E260K Substitution - Missense Stomach COSM5670795 HDAC7 c.827C>T p.P276L Substitution - Missense Soft_tissue COSM3939226 SMYD1 c.281A>G p.K94R Substitution - Missense Oesophagus COSM5607230 ZMYM4 c.2597C>T p.S866F Substitution - Missense Skin COSM5879075 EZH2 c.2176G>C p.E726Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4581797 ACTR5 c.1429G>C p.D477H Substitution - Missense Bone COSM1377034 GTF3C1 c.1092C>T p.F364F Substitution - coding silent Oesophagus COSM5880066 PHF6 c.476_480delAAAAG p.K161fs*9 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4762572 SETDB1 c.1745G>T p.C582F Substitution - Missense Stomach COSM1672543 PHF3 c.5179A>C p.N1727H Substitution - Missense Large_intestine COSM4390338 CBX4 c.583C>G p.P195A Substitution - Missense Urinary_tract COSM1666937 DNMT3A c.? p.D712A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4437595 KAT2B c.658A>G p.S220G Substitution - Missense Oesophagus COSM4170642 PRDM16 c.3826_3831delCTCTGA p.L1276_*1277delL* Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM1710677 BPTF c.3101C>T p.S1034F Substitution - Missense Skin COSM939001 KDM5A c.4538G>A p.R1513Q Substitution - Missense Endometrium COSM77085 ZMYM6 c.1580A>G p.N527S Substitution - Missense Ovary COSM3805237 SCMH1 c.351C>T p.H117H Substitution - coding silent Breast COSM985527 CHD3 c.5089C>T p.R1697* Substitution - Nonsense Prostate COSM3452411 SUV420H1 c.1313C>T p.P438L Substitution - Missense Skin COSM5494640 HELLS c.1628+1G>A p.? Unknown Biliary_tract COSM4104162 CBX6 c.129G>A p.E43E Substitution - coding silent Stomach COSM1583143 DNMT3A c.2153C>G p.P718R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM106336 TP53BP1 c.3549T>A p.S1183R Substitution - Missense Skin COSM5496033 ASH1L c.3736G>C p.E1246Q Substitution - Missense Biliary_tract COSM5919695 BRD3 c.214-5C>T p.? Unknown Skin COSM3736680 KMT2C c.14405G>A p.G4802E Substitution - Missense Skin COSM486632 PRDM14 c.1183+1G>T p.? Unknown Kidney COSM4383768 TET2 c.762delT p.Q255fs*38 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5880130 BRDT c.1411C>T p.P471S Substitution - Missense Skin COSM5630798 SHPRH c.3045A>G p.T1015T Substitution - coding silent Oesophagus COSM5766183 ATRX c.5890G>T p.G1964* Substitution - Nonsense Central_nervous_system COSM4983185 TRRAP c.8467G>A p.G2823S Substitution - Missense Oesophagus COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3768305 HDAC9 c.1256T>C p.V419A Substitution - Missense Liver COSM3461589 KMT2D c.3575C>T p.P1192L Substitution - Missense Skin COSM3649295 MYST3 c.4008C>T p.P1336P Substitution - coding silent Skin COSM3766181 ZBTB4 c.1953T>G p.D651E Substitution - Missense Liver COSM3715731 STK31 c.1965+2T>C p.? Unknown Upper_aerodigestive_tract COSM5428988 EYA1 c.1038C>G p.N346K Substitution - Missense Oesophagus COSM224050 ADNP c.915T>A p.N305K Substitution - Missense Skin COSM430541 KDM2B c.2304C>A p.L768L Substitution - coding silent Breast COSM5347469 ARID1A c.2175_2193del19 p.P726fs*10 Deletion - Frameshift Liver COSM1660728 BAP1 c.271T>G p.C91G Substitution - Missense Pleura COSM4105080 HDAC10 c.1039C>T p.R347C Substitution - Missense Stomach COSM5514008 BPTF c.8029_8030insCCTCCAGCC p.P2677_P2678insSSP Insertion - In frame Biliary_tract COSM4974853 BRD1 c.1434C>T p.S478S Substitution - coding silent Oesophagus COSM1330939 CHD7 c.2426G>A p.R809H Substitution - Missense Ovary COSM1172738 DIDO1 c.6596G>A p.R2199Q Substitution - Missense Large_intestine COSM1469179 ZMYM3 c.3271C>T p.R1091C Substitution - Missense Large_intestine COSM5425984 KMT2A c.7061C>G p.P2354R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5555350 PHIP c.1058G>A p.G353D Substitution - Missense Prostate COSM3460965 ARID2 c.881G>A p.R294K Substitution - Missense Skin COSM3443995 KMT2A c.7717C>T p.P2573S Substitution - Missense Skin COSM1713608 ZMYND8 c.556A>C p.K186Q Substitution - Missense Skin COSM5709540 HDAC3 c.566C>T p.T189M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1034588 L3MBTL2 c.1181G>A p.R394Q Substitution - Missense Endometrium COSM347815 KDM2B c.1755G>C p.L585L Substitution - coding silent Lung COSM2235456 ARID1A c.2291delC p.Q766fs*67 Deletion - Frameshift Soft_tissue COSM1738679 MBD5 c.709A>G p.I237V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4547288 SETD1B c.836G>A p.G279E Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5716135 TDRKH c.1486C>T p.P496S Substitution - Missense Skin COSM987404 AP001011.3_ENST00000320876 c.2729G>A p.G910D Substitution - Missense Ovary COSM1389533 L3MBTL4 c.661C>T p.R221C Substitution - Missense Large_intestine COSM4114050 ZBTB38 c.1334C>A p.P445Q Substitution - Missense Stomach COSM5770868 YY1 c.394C>T p.L132F Substitution - Missense Breast COSM3546370 CHD6 c.2672C>A p.A891D Substitution - Missense Skin COSM1249109 CREBBP c.4209C>T p.D1403D Substitution - coding silent Large_intestine COSM4991370 ASXL1 c.2050C>T p.P684S Substitution - Missense Skin COSM211589 KDM6B c.4432T>G p.C1478G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3636994 HDAC9 c.656G>A p.R219Q Substitution - Missense Skin COSM5010338 KMT2C c.11702delC p.P3901fs*33 Deletion - Frameshift Large_intestine COSM2960309 WHSC1L1 c.1373C>T p.A458V Substitution - Missense Large_intestine COSM3255760 PHF14 c.1271G>A p.R424Q Substitution - Missense Lung COSM4466264 PHF2 c.1424C>T p.P475L Substitution - Missense Skin COSM98971 TRRAP c.355C>T p.R119C Substitution - Missense Skin COSM4646972 PHRF1 c.3892C>G p.P1298A Substitution - Missense Large_intestine COSM4949725 PBRM1 c.3327_3348del22 p.D1109fs*43 Deletion - Frameshift Liver COSM23051 MEN1 c.1546_1547insC p.R516fs*15 Insertion - Frameshift Stomach COSM1289068 ZMYM4 c.3529-2A>T p.? Unknown Autonomic_ganglia COSM4385506 PHF6 c.674G>A p.R225Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3366352 JARID2 c.3401C>A p.T1134K Substitution - Missense Kidney COSM1443746 RING1 c.221T>C p.V74A Substitution - Missense Large_intestine COSM4578877 GTF3C1 c.180_190del11 p.Y60fs*1 Deletion - Frameshift Bone COSM23398 MEN1 c.249_252delGTCT p.I85fs*33 Deletion - Frameshift Lung COSM4851892 TRRAP c.7012G>A p.E2338K Substitution - Missense Cervix COSM4097817 NCOA6 c.379G>A p.V127I Substitution - Missense Stomach COSM4803898 SIRT3 c.480G>T p.P160P Substitution - coding silent Liver COSM4157328 ZBTB38 c.1882A>C p.S628R Substitution - Missense Thyroid COSM3408411 MECOM c.911C>T p.P304L Substitution - Missense Central_nervous_system COSM236289 ARID2 c.1868delG p.R623fs*24 Deletion - Frameshift Autonomic_ganglia COSM5347223 ARID1A c.?_?ins? p.Y1324fs*? Insertion - Frameshift Endometrium COSM970542 CREBBP c.6441T>G p.A2147A Substitution - coding silent Endometrium COSM3474969 ASH1L c.3909C>T p.I1303I Substitution - coding silent Skin COSM5950195 MYST3 c.1740+4A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3844864 HDAC6 c.2609G>A p.R870Q Substitution - Missense Breast COSM5989771 DNMT3A c.1810C>T p.R604W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87169 TET2 c.4249G>T p.V1417F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM716475 MBD5 c.1340G>A p.G447E Substitution - Missense Lung COSM1228963 TET2 c.3444T>A p.Y1148* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM240690 KMT2D c.4285C>T p.R1429* Substitution - Nonsense Oesophagus COSM145807 PRDM2 c.3502G>A p.V1168M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3788810 LMNA c.954G>A p.A318A Substitution - coding silent Urinary_tract COSM4767391 ATRX c.6590G>A p.R2197H Substitution - Missense Autonomic_ganglia COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3406964 BAZ2B c.3569A>G p.Q1190R Substitution - Missense Central_nervous_system COSM1159395 PHIP c.1428G>A p.P476P Substitution - coding silent Pancreas COSM5463124 EP300 c.5486G>A p.R1829H Substitution - Missense Large_intestine COSM1615492 NCOA6 c.2909C>G p.P970R Substitution - Missense Liver COSM198515 BTAF1 c.2736G>A p.T912T Substitution - coding silent Stomach COSM1106569 WDR5 c.675C>T p.N225N Substitution - coding silent Endometrium COSM4876992 TCF20 c.2831A>T p.N944I Substitution - Missense Prostate COSM3080156 ZCWPW1 c.490C>T p.P164S Substitution - Missense Large_intestine COSM5724226 CREBBP c.2867C>T p.P956L Substitution - Missense Skin COSM5570072 SND1 c.1532C>G p.T511S Substitution - Missense Prostate COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3913641 HCFC1 c.4920C>T p.A1640A Substitution - coding silent Skin COSM5373759 TRIM66 c.3301C>T p.H1101Y Substitution - Missense Skin COSM1318925 DNMT3A c.1490G>A p.C497Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM97038 ASXL1 c.2475_2476insA p.G826fs*7 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4876513 ZBTB4 c.1950G>T p.E650D Substitution - Missense Prostate COSM5019600 ARID1B c.3960-7A>G p.? Unknown Soft_tissue COSM1362014 KMT2D c.7909delT p.Y2637fs*3 Deletion - Frameshift Large_intestine COSM5347211 ARID1A c.?_?ins? p.L2073fs*? Insertion - Frameshift Endometrium COSM435117 SRCAP c.495G>A p.V165V Substitution - coding silent Breast COSM1290465 CHD2 c.4279-1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM301738 BAHCC1 c.1293C>A p.P431P Substitution - coding silent Central_nervous_system COSM3975682 CHD1 c.3752T>C p.I1251T Substitution - Missense Central_nervous_system COSM1453233 TRRAP c.11044C>T p.R3682* Substitution - Nonsense Skin COSM477463 MSH6 c.3476A>G p.Y1159C Substitution - Missense Kidney COSM3708347 DNMT3A c.2077A>T p.K693* Substitution - Nonsense Liver COSM5804935 TTF2 c.822G>T p.K274N Substitution - Missense Liver COSM3786638 PWWP2B c.1123G>A p.G375S Substitution - Missense Pancreas COSM745841 KMT2C c.2267G>C p.G756A Substitution - Missense Lung COSM3736469 MYST3 c.401T>C p.L134S Substitution - Missense Soft_tissue COSM724838 DIDO1 c.4552G>A p.D1518N Substitution - Missense Lung COSM5750531 SMARCA1 c.929T>C p.I310T Substitution - Missense Stomach COSM1327197 TCF20 c.559C>T p.L187F Substitution - Missense Ovary COSM1969438 BTAF1 c.386A>G p.Q129R Substitution - Missense Lung COSM4138177 ASXL3 c.1005A>G p.P335P Substitution - coding silent Pancreas COSM1233535 ZMYM4 c.4012G>T p.E1338* Substitution - Nonsense Large_intestine COSM3733336 KMT2C c.2263C>T p.Q755* Substitution - Nonsense Upper_aerodigestive_tract COSM5921127 CHD3 c.4453C>T p.R1485C Substitution - Missense Skin COSM1600689 PRDM2 c.4324C>T p.Q1442* Substitution - Nonsense Liver COSM983283 BPTF c.1161A>C p.I387I Substitution - coding silent Endometrium COSM5006580 SETD2 c.?_?del? p.?fs Deletion - Frameshift Kidney COSM5656354 KMT2D c.11603_11604insTT p.V3869fs*4 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3440616 KAT6B c.5380T>C p.L1794L Substitution - coding silent Skin COSM4901146 TRRAP c.100C>G p.P34A Substitution - Missense Skin COSM383599 TDRD7 c.1252G>T p.G418W Substitution - Missense Lung COSM1608354 MGA c.894G>A p.Q298Q Substitution - coding silent Liver COSM4576213 PRDM2 c.4836C>G p.H1612Q Substitution - Missense Bone COSM316225 TRRAP c.7957G>T p.A2653S Substitution - Missense Soft_tissue COSM420407 KDM3B c.4346G>T p.R1449M Substitution - Missense Urinary_tract COSM5878790 DNMT3A c.1917_1920delCTTT p.F640fs*10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM342334 SMYD2 c.997G>A p.E333K Substitution - Missense Lung COSM1485380 PBRM1 c.4296G>A p.M1432I Substitution - Missense Breast COSM908325 RBBP4 c.740C>A p.A247D Substitution - Missense Endometrium COSM4894223 ASXL3 c.994C>T p.L332L Substitution - coding silent Skin COSM941749 BAZ2A c.3535T>C p.L1179L Substitution - coding silent Endometrium COSM5049468 GTF3C4 c.1155G>C p.K385N Substitution - Missense Oesophagus COSM479024 TCF20 c.3346C>A p.Q1116K Substitution - Missense Kidney COSM3846137 RUVBL1 c.826C>T p.R276* Substitution - Nonsense Breast COSM1718171 BRPF1 c.1971C>T p.V657V Substitution - coding silent Skin COSM2252223 UBR7 c.292C>T p.R98C Substitution - Missense Skin COSM3945124 PHC3 c.2707G>C p.D903H Substitution - Missense Lung COSM5706303 NCOR1 c.5620G>T p.E1874* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM311710 HCFC2 c.1092G>A p.Q364Q Substitution - coding silent Lung COSM3097041 ATRX c.4744_4745insA p.T1582fs*19 Insertion - Frameshift Large_intestine COSM5037949 EHMT1 c.61G>C p.G21R Substitution - Missense Skin COSM734363 GABRG1 c.66G>A p.R22R Substitution - coding silent Lung COSM1312272 TDRD6 c.5534C>G p.S1845* Substitution - Nonsense Urinary_tract COSM5878778 DNMT3A c.2111T>G p.V704G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5642956 HDAC8 c.629-1G>C p.? Unknown Oesophagus COSM4418709 NSD1 c.2176T>C p.S726P Substitution - Missense Soft_tissue COSM1226848 SMEK1 c.1087T>G p.L363V Substitution - Missense Large_intestine COSM266551 FMR1 c.1292G>A p.R431H Substitution - Missense Large_intestine COSM1293299 BTAF1 c.2503C>T p.R835* Substitution - Nonsense Cervix COSM1423180 SETMAR c.450C>T p.G150G Substitution - coding silent Large_intestine COSM3153169 EP300 c.4402delA p.M1470fs*26 Deletion - Frameshift Large_intestine COSM317632 KMT2A c.4268T>C p.L1423S Substitution - Missense Soft_tissue COSM4608290 PHF13 c.226G>T p.D76Y Substitution - Missense Adrenal_gland COSM5582377 RNF17 c.1348G>A p.E450K Substitution - Missense Skin COSM4418709 NSD1 c.2176T>C p.S726P Substitution - Missense Soft_tissue COSM4792383 EP400 c.3670A>C p.T1224P Substitution - Missense Liver COSM293077 KMT2C c.4770A>G p.A1590A Substitution - coding silent Large_intestine COSM1325200 KDM4B c.192C>T p.D64D Substitution - coding silent Ovary COSM5802867 JHDM1D c.1023G>A p.K341K Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM382817 ZBTB4 c.2820C>G p.N940K Substitution - Missense Lung COSM4951049 KMT2D c.7117_7118delGA p.E2373fs*11 Deletion - Frameshift Liver COSM4574353 RAG2 c.357G>T p.K119N Substitution - Missense Bone COSM679384 LBR c.459C>T p.F153F Substitution - coding silent Lung COSM4694941 KDM3B c.2337C>T p.S779S Substitution - coding silent Large_intestine COSM4568451 SMEK1 c.115T>C p.S39P Substitution - Missense Skin COSM1021297 MSH6 c.3227G>A p.R1076H Substitution - Missense Endometrium COSM5004974 HDAC5 c.797G>A p.R266H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4499324 ING5 c.53C>T p.P18L Substitution - Missense Skin COSM111693 KAT6B c.3289_3291delGAA p.E1097delE Deletion - In frame Soft_tissue COSM3715648 ZCWPW1 c.1036C>G p.L346V Substitution - Missense Upper_aerodigestive_tract COSM30436 MLLT10 c.1055G>A p.S352N Substitution - Missense Skin COSM972476 CTCF c.619A>C p.T207P Substitution - Missense Endometrium COSM3901392 EYA1 c.192C>A p.F64L Substitution - Missense Stomach COSM1049740 TET2 c.268C>T p.Q90* Substitution - Nonsense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5417167 NCOR1 c.2669A>T p.D890V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM150037 CDYL c.25T>C p.S9P Substitution - Missense Lung COSM228110 KMT2C c.1042G>A p.D348N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3736954 BAP1 c.? p.? Unknown Skin COSM5777888 KDM4C c.2092A>G p.I698V Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1048026 ATXN7 c.1901C>T p.A634V Substitution - Missense Pancreas COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3562428 PHF8 c.2204C>T p.S735L Substitution - Missense Cervix COSM88748 CREBBP c.4337G>A p.R1446H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1737806 SCML2 c.1717T>A p.F573I Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM96375 BAP1 c.354_354delC p.F118fs*69 Deletion - Frameshift Pleura COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4383605 DNMT3A c.886G>T p.V296L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4827372 DOT1L c.4227G>T p.K1409N Substitution - Missense Cervix COSM5819589 TDRD1 c.1916A>T p.K639I Substitution - Missense Liver COSM923605 KMT2A c.11656C>T p.R3886* Substitution - Nonsense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3493000 RERE c.860G>A p.R287H Substitution - Missense Skin COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM4926452 SMARCA4 c.2731G>A p.G911S Substitution - Missense Liver COSM256617 CHD8 c.4179T>G p.N1393K Substitution - Missense Large_intestine COSM1724999 TET2 c.4618C>T p.Q1540* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4949509 INOC1 c.3498G>C p.R1166S Substitution - Missense Liver COSM4777396 RERE c.3250T>G p.S1084A Substitution - Missense Breast COSM145810 PRDM9 c.920G>A p.G307E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM4607278 PRDM10 c.639C>A p.Y213* Substitution - Nonsense Adrenal_gland COSM1124810 ZMYM3 c.2242C>A p.L748I Substitution - Missense Endometrium COSM3637533 STK31 c.371G>A p.R124Q Substitution - Missense Skin COSM1979092 ALKBH3 c.638G>A p.R213H Substitution - Missense Large_intestine COSM4746553 UHRF1 c.1920_1922delGGA p.E644delE Deletion - In frame Stomach COSM132970 ASXL1 c.? p.G659fs*9 Frameshift Haematopoietic_and_lymphoid_tissue COSM4043889 MBD6 c.2212C>A p.P738T Substitution - Missense Stomach COSM106988 STK31 c.2248G>A p.V750I Substitution - Missense Skin COSM1165422 SMARCA5 c.263G>A p.R88Q Substitution - Missense Large_intestine COSM4503856 SHPRH c.64C>T p.H22Y Substitution - Missense Skin COSM4200196 SUV420H1 c.559C>T p.R187* Substitution - Nonsense Stomach COSM3262032 SMARCD3 c.980T>C p.V327A Substitution - Missense Large_intestine COSM704906 NCOR1 c.3242C>T p.P1081L Substitution - Missense Lung COSM4129611 NCOR1 c.447C>T p.F149F Substitution - coding silent Large_intestine COSM3527183 L3MBTL4 c.58C>T p.Q20* Substitution - Nonsense Skin COSM3926396 BRD3 c.633C>T p.V211V Substitution - coding silent Skin COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM30390 KDM5C c.781+1_781+11delCGGAAGAAAGG p.? Unknown Kidney COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM52994 EZH2 c.1992T>G p.D664E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM50342 SFMBT2 c.251A>C p.N84T Substitution - Missense Large_intestine COSM88753 CREBBP c.4506G>T p.W1502C Substitution - Missense Urinary_tract COSM87185 TET2 c.5644G>C p.A1882P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM146113 ZBTB38 c.1924C>T p.P642S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM221056 KMT2D c.7243C>T p.R2415* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM148139 PRDM7 c.404C>A p.T135K Substitution - Missense Stomach COSM255406 NCOR1 c.4996C>T p.H1666Y Substitution - Missense Central_nervous_system COSM287292 GLYR1 c.1140_1141insG p.R381fs*15 Insertion - Frameshift Large_intestine COSM276012 MBD6 c.1397G>A p.S466N Substitution - Missense Large_intestine COSM273283 SMYD3 c.1086C>T p.C362C Substitution - coding silent Large_intestine COSM317495 KAT2B c.1623-2A>G p.? Unknown Soft_tissue COSM356031 CHD9 c.3908T>A p.V1303D Substitution - Missense Lung COSM345837 BRPF3 c.470A>T p.D157V Substitution - Missense Lung COSM439448 SIRT2 c.756G>A p.L252L Substitution - coding silent Breast COSM435128 SRCAP c.6787G>A p.E2263K Substitution - Missense Breast COSM459705 DIDO1 c.5700G>C p.L1900L Substitution - coding silent Cervix COSM975886 NCOR1 c.34G>A p.A12T Substitution - Missense Endometrium COSM936095 SETD1B c.1925G>A p.R642H Substitution - Missense Endometrium COSM1030695 BRWD1 c.3631C>T p.R1211* Substitution - Nonsense Large_intestine COSM1025789 DNMT3B c.540G>A p.T180T Substitution - coding silent Large_intestine COSM710126 SMARCA4 c.2080G>T p.D694Y Substitution - Missense Lung COSM961208 BAHD1 c.943C>T p.P315S Substitution - Missense Endometrium COSM1072324 HDAC2 c.321C>A p.L107L Substitution - coding silent Endometrium COSM1034521 EP300 c.1543G>T p.G515* Substitution - Nonsense Endometrium COSM1124882 TAF1 c.1997G>A p.R666H Substitution - Missense Endometrium COSM1125457 ATRX c.3819G>A p.K1273K Substitution - coding silent Endometrium COSM1100791 CHD7 c.2478C>A p.F826L Substitution - Missense Endometrium COSM1181745 ACTR5 c.35G>A p.R12H Substitution - Missense Large_intestine COSM1163157 HDAC5 c.3183G>A p.V1061V Substitution - coding silent Pancreas COSM1227532 SRCAP c.2519G>A p.R840Q Substitution - Missense Large_intestine COSM1178238 CHD3 c.1200C>A p.A400A Substitution - coding silent Prostate COSM1191134 SUV420H1 c.2087_2089delAGA p.K697delK Deletion - In frame Lung COSM1285863 L3MBTL3 c.284C>T p.P95L Substitution - Missense Autonomic_ganglia COSM1388989 MBD1 c.496C>T p.R166W Substitution - Missense Large_intestine COSM1458083 NCOA2 c.565G>A p.E189K Substitution - Missense Large_intestine COSM1339919 ACTA1 c.267C>A p.H89Q Substitution - Missense Large_intestine COSM1363051 SMARCC2 c.2211C>A p.S737R Substitution - Missense Large_intestine COSM1361278 PRMT8 c.51G>A p.A17A Substitution - coding silent Large_intestine COSM1479689 CBX1 c.483A>T p.I161I Substitution - coding silent Breast COSM1587017 ZMYM2 c.2852delT p.T952fs*2 Deletion - Frameshift Endometrium COSM1679941 AKAP1 c.2126C>T p.T709I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1680121 CBX2 c.764C>T p.S255F Substitution - Missense Large_intestine COSM1670145 DHX30 c.2608C>A p.L870M Substitution - Missense Large_intestine COSM1673338 TRRAP c.8980C>T p.H2994Y Substitution - Missense Large_intestine COSM1713665 ADNP c.799C>T p.P267S Substitution - Missense Skin COSM1737884 TET2 c.4100C>A p.P1367Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2154876 PHC2 c.2495A>T p.D832V Substitution - Missense Central_nervous_system COSM2164473 MEN1 c.1367G>A p.R456H Substitution - Missense Large_intestine COSM2823059 KDM3A c.1397A>G p.N466S Substitution - Missense Liver COSM2819107 PRDM15 c.2668G>A p.G890S Substitution - Missense Large_intestine COSM2828735 SETD5_ENST00000402198 c.450T>C p.Y150Y Substitution - coding silent Upper_aerodigestive_tract COSM2965375 KDM6A c.2199C>A p.H733Q Substitution - Missense Upper_aerodigestive_tract COSM3304590 KMT2C c.1082C>T p.T361I Substitution - Missense Breast COSM3366797 TRIM24 c.3141G>C p.Q1047H Substitution - Missense Kidney COSM3364024 HDAC6 c.2930G>A p.G977D Substitution - Missense Kidney COSM3370625 NCOR1 c.2865C>T p.S955S Substitution - coding silent Thyroid COSM3614200 DUSP1 c.426C>T p.P142P Substitution - coding silent Skin COSM3619197 PRDM1 c.1537C>T p.L513F Substitution - Missense Skin COSM3589834 MECOM c.2771G>A p.G924E Substitution - Missense Skin COSM3666856 KMT2A c.7335T>A p.S2445S Substitution - coding silent Liver COSM3716950 CHD9 c.8294A>G p.N2765S Substitution - Missense Liver COSM3729048 CHD4 c.4780-10delT p.? Unknown Stomach COSM3735012 SMARCA4 c.1027_1027delG p.V343fs*68 Deletion - Frameshift Ovary COSM3759723 MBD4 c.1413C>T p.G471G Substitution - coding silent Large_intestine COSM3776947 CHD1 c.1565A>G p.Y522C Substitution - Missense Urinary_tract COSM3810239 SUV420H1 c.2136C>A p.N712K Substitution - Missense Breast COSM3805038 ZMYM4 c.1595C>T p.A532V Substitution - Missense Breast COSM3855047 NIPBL c.6427T>A p.S2143T Substitution - Missense Stomach COSM3853974 NSD1 c.5680C>T p.R1894C Substitution - Missense Stomach COSM3936054 SMARCC2 c.415C>T p.R139* Substitution - Nonsense Oesophagus COSM3845396 ATRX c.5718T>C p.S1906S Substitution - coding silent Breast COSM3879557 KMT2C c.7788G>A p.R2596R Substitution - coding silent Stomach COSM3978100 TDRD1 c.1977T>C p.P659P Substitution - coding silent Lung COSM3998334 PRDM10 c.1705A>C p.T569P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4131556 DOT1L c.4849G>C p.V1617L Substitution - Missense Thyroid COSM4138708 MYST3 c.2717C>T p.S906L Substitution - Missense Kidney COSM52806 PBRM1 c.646-5T>G p.? Unknown Kidney COSM4170084 DNMT3A c.1297_1298insCA p.K433fs*219 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4185610 KMT2D c.11120T>G p.L3707R Substitution - Missense Kidney COSM4388035 KMT2D c.6359C>T p.P2120L Substitution - Missense Pancreas COSM4406870 PRDM1 c.953G>A p.S318N Substitution - Missense Soft_tissue COSM4604033 KMT2D c.9935G>A p.R3312Q Substitution - Missense Upper_aerodigestive_tract COSM4414371 KMT2C c.4950T>A p.T1650T Substitution - coding silent Kidney COSM4424890 CHD6 c.2483G>A p.R828Q Substitution - Missense Oesophagus COSM4502001 GATAD2B c.602C>T p.P201L Substitution - Missense Skin COSM4459961 KMT2D c.10681C>T p.Q3561* Substitution - Nonsense Skin COSM4770177 PBRM1 c.4576+5_4576+6insGAG p.? Unknown Soft_tissue COSM4666263 BRWD3 c.3921_3922insA p.Q1308fs*11 Insertion - Frameshift Large_intestine COSM4689183 GTF3C1 c.3613C>T p.R1205* Substitution - Nonsense Large_intestine COSM4767768 SMARCB1 c.320A>G p.Y107C Substitution - Missense Biliary_tract COSM4632732 BAHCC1 c.6791C>T p.P2264L Substitution - Missense Large_intestine COSM4881249 LMNB2 c.546G>T p.T182T Substitution - coding silent Upper_aerodigestive_tract COSM4885737 SMARCC1 c.1593G>C p.Q531H Substitution - Missense Upper_aerodigestive_tract COSM4932737 ASH1L c.1638A>G p.P546P Substitution - coding silent Liver COSM4899561 MECOM c.1807C>T p.P603S Substitution - Missense Skin COSM4827987 SFMBT1 c.2048C>T p.S683F Substitution - Missense Cervix COSM4955050 HCFC1 c.3618C>A p.N1206K Substitution - Missense Liver COSM4950043 SUZ12 c.1859_1860delAT p.H620fs*9 Deletion - Frameshift Liver COSM4994322 MTA2 c.1718C>A p.S573Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4984989 HNF1A c.1460G>A p.S487N Substitution - Missense Soft_tissue COSM4978974 TDRD5 c.1043T>C p.L348P Substitution - Missense Oesophagus COSM5062698 TRRAP c.1598A>G p.K533R Substitution - Missense Stomach COSM5066858 TDG c.408+1_409-1del820 p.? Unknown Large_intestine COSM5369886 ARID1A c.4078_4078delA p.T1360fs*121 Deletion - Frameshift Cervix COSM5499402 NCOA6 c.3683G>A p.R1228H Substitution - Missense Biliary_tract COSM5520091 ASH1L c.8272G>A p.D2758N Substitution - Missense Biliary_tract COSM5442763 KMT2D c.3313-5_3313-2delCCCA p.? Unknown Oesophagus COSM5647886 EP300 c.670C>T p.Q224* Substitution - Nonsense Oesophagus COSM5623578 KAT6B c.3372G>T p.K1124N Substitution - Missense Oesophagus COSM5647454 ZCWPW1 c.327G>C p.Q109H Substitution - Missense Oesophagus COSM5623932 NCOA3 c.1248C>G p.A416A Substitution - coding silent Oesophagus COSM5654547 ZMYM2 c.3433C>A p.L1145I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5609221 KDM6A c.3151A>T p.N1051Y Substitution - Missense Skin COSM5576429 ASXL3 c.14G>A p.G5E Substitution - Missense Skin COSM5590845 EZH1 c.351C>T p.L117L Substitution - coding silent Skin COSM5611410 TRRAP c.10764_10765CC>TT p.R3589W Substitution - Missense Skin COSM5606356 BRD3 c.220C>T p.H74Y Substitution - Missense Skin COSM5600632 TCF20 c.4975A>T p.K1659* Substitution - Nonsense Skin COSM5671041 KMT2D c.13406C>T p.P4469L Substitution - Missense Soft_tissue COSM5707680 EP300 c.5048G>A p.C1683Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5708954 TET2 c.1051G>T p.E351* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5878794 DNMT3A c.1913C>T p.S638F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5882728 CHD9 c.6530C>A p.S2177* Substitution - Nonsense Soft_tissue COSM5900997 ARID1A c.6338C>T p.S2113F Substitution - Missense Skin COSM5910703 MGMT c.275-8C>T p.? Unknown Skin COSM5988044 EPC2 c.587_588delAA p.Q196fs*10 Deletion - Frameshift Salivary_gland COSM5999985 ALKBH3 c.748G>T p.A250S Substitution - Missense Prostate COSM5977200 SMARCA2 c.666_667insCAGCAGCAG p.Q238_P239insQQQ Insertion - In frame Upper_aerodigestive_tract COSM6004501 CHD6 c.4792T>C p.C1598R Substitution - Missense Prostate COSM6007446 CHD7 c.5228G>A p.R1743H Substitution - Missense Prostate COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Bone COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM131566 IDH2 c.? p.R172G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM214250 WHSC1 c.2738A>G p.H913R Substitution - Missense Breast COSM3874513 TDRD6 c.657C>T p.S219S Substitution - coding silent Stomach COSM4920216 ATRX c.84A>G p.E28E Substitution - coding silent Liver COSM1233555 ZMYND11 c.235T>G p.F79V Substitution - Missense Large_intestine COSM5548899 ARID2 c.5318C>T p.A1773V Substitution - Missense Prostate COSM4470494 TET2 c.1663C>T p.P555S Substitution - Missense Skin COSM4515409 SCML2 c.1093_1094GG>AA p.G365K Substitution - Missense Skin COSM4713973 PHF20 c.569G>A p.R190Q Substitution - Missense Large_intestine COSM3937658 BAHCC1 c.6568G>A p.E2190K Substitution - Missense Oesophagus COSM4023050 ASH1L c.4554A>C p.R1518S Substitution - Missense Stomach COSM3733522 NCOR1 c.59A>C p.Y20S Substitution - Missense Central_nervous_system COSM3461607 KMT2D c.2038C>T p.P680S Substitution - Missense Skin COSM5520354 ASXL3 c.2779A>C p.T927P Substitution - Missense Biliary_tract COSM430521 HNF1A c.51C>G p.L17L Substitution - coding silent Liver COSM5346999 ARID1A c.6763G>T p.E2255* Substitution - Nonsense Endometrium COSM5433017 KMT2D c.4993C>G p.L1665V Substitution - Missense Oesophagus COSM3153106 EP300 c.1781C>T p.T594M Substitution - Missense Large_intestine COSM3861637 TCF19 c.135G>A p.R45R Substitution - coding silent Stomach COSM4717508 PRDM4 c.901G>A p.V301M Substitution - Missense Large_intestine COSM258560 HDAC9 c.1864C>T p.P622S Substitution - Missense Large_intestine COSM3705797 PHC2 c.347C>A p.S116Y Substitution - Missense Liver COSM5733656 SMARCC1 c.1753T>A p.F585I Substitution - Missense Pancreas COSM255127 MEN1 c.? p.S178P Substitution - Missense Parathyroid COSM2078774 PHC2 c.271G>A p.A91T Substitution - Missense Large_intestine COSM1751564 ZGPAT c.1068G>A p.A356A Substitution - coding silent Urinary_tract COSM4983478 ACTR5 c.406G>C p.E136Q Substitution - Missense Oesophagus COSM4555577 GLYR1 c.65G>T p.W22L Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Biliary_tract COSM3389888 DIDO1 c.3286A>T p.R1096W Substitution - Missense Pancreas COSM318349 EP300 c.4508A>C p.Y1503S Substitution - Missense Lung COSM1074196 SHPRH c.2476T>C p.C826R Substitution - Missense Endometrium COSM1472468 TTF2 c.828G>C p.Q276H Substitution - Missense Breast COSM713810 TFPT c.288C>A p.N96K Substitution - Missense Lung COSM3736438 STK31 c.804G>T p.K268N Substitution - Missense Skin COSM5701415 EP300 c.2024_2025insT p.M675fs*11 Insertion - Frameshift Soft_tissue COSM3786950 HELLS c.2023C>T p.R675* Substitution - Nonsense Pancreas COSM1562482 YEATS4 c.6C>G p.F2L Substitution - Missense Large_intestine COSM71885 NSD1 c.7259C>G p.P2420R Substitution - Missense Ovary COSM975865 NCOR1 c.5264G>A p.R1755H Substitution - Missense Endometrium COSM5944280 TET2 c.3058delC p.Q1020fs*13 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4674639 CREBBP c.7059G>T p.R2353R Substitution - coding silent Large_intestine COSM936115 SETD1B c.2404T>G p.S802A Substitution - Missense Endometrium COSM488636 ATRX c.1624G>C p.V542L Substitution - Missense Kidney COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM41292 IDH1 c.? p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4110209 PHF8 c.2399A>G p.D800G Substitution - Missense Stomach COSM3546366 CHD6 c.3541C>T p.P1181S Substitution - Missense Skin COSM1122202 HDAC6 c.2532A>G p.G844G Substitution - coding silent Endometrium COSM4799684 SRCAP c.67G>C p.G23R Substitution - Missense Liver COSM5707673 EP300 c.1760+1_1760+4delGTAA p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4482009 TAF1L c.2566C>T p.H856Y Substitution - Missense Skin COSM483195 PRDM13 c.1405C>A p.L469M Substitution - Missense Kidney COSM22662 MEN1 c.536A>T p.E179V Substitution - Missense Pancreas COSM3834071 PHF20L1 c.829G>A p.E277K Substitution - Missense Breast COSM1646580 ZMYM2 c.313G>C p.E105Q Substitution - Missense Lung COSM5638222 SMYD1 c.1269C>A p.L423L Substitution - coding silent Oesophagus COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1756767 EP400 c.4536G>A p.P1512P Substitution - coding silent Urinary_tract COSM3514780 RAI1 c.4794C>T p.F1598F Substitution - coding silent Skin COSM4581887 ADNP c.3033A>G p.P1011P Substitution - coding silent Bone COSM940068 KMT2D c.4021C>T p.R1341W Substitution - Missense Endometrium COSM687267 PRDM10 c.1220G>T p.R407L Substitution - Missense Lung COSM420716 NIPBL c.6359T>A p.L2120* Substitution - Nonsense Urinary_tract COSM3510036 BRD7 c.1339G>T p.E447* Substitution - Nonsense Skin COSM5746590 TDRD6 c.1309G>A p.V437I Substitution - Missense Pancreas COSM1255479 KDM1A c.812G>T p.R271L Substitution - Missense Stomach COSM1180783 BAZ2A c.1834delG p.E612fs*12 Deletion - Frameshift Large_intestine COSM5002008 DNMT3B c.1229G>T p.R410L Substitution - Missense Pancreas COSM5913329 APOBEC1 c.103G>A p.E35K Substitution - Missense Skin COSM1380017 CDYL2 c.1159C>T p.R387C Substitution - Missense Central_nervous_system COSM5976301 KMT2C c.2532+1G>C p.? Unknown Upper_aerodigestive_tract COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1169662 PBRM1 c.(3745_3747)delA p.(P1249)fs*? Deletion - Frameshift Kidney COSM5896172 KMT2D c.9508G>A p.A3170T Substitution - Missense Skin COSM42047 TET2 c.1954C>T p.Q652* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3594791 SMARCC1 c.3274C>T p.P1092S Substitution - Missense Skin COSM1028116 PCNA c.109C>A p.L37M Substitution - Missense Endometrium COSM391684 PRDM9 c.1801_1802delAC p.T603fs*15 Deletion - Frameshift Lung COSM5001232 BRWD1 c.5189G>A p.R1730Q Substitution - Missense Pancreas COSM5601194 CBX2 c.999C>T p.A333A Substitution - coding silent Skin COSM5716498 MGA c.7511C>T p.S2504F Substitution - Missense Skin COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Bone COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Central_nervous_system COSM128034 FTO c.1053T>C p.N351N Substitution - coding silent Upper_aerodigestive_tract COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM307572 TAF1L c.1765G>A p.D589N Substitution - Missense Kidney COSM53020 EZH2 c.755_756insC p.G254fs*6 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5707509 DIDO1 c.3356T>A p.L1119Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1609211 SRCAP c.6603C>A p.F2201L Substitution - Missense Liver COSM1636971 BRDT c.2316A>T p.I772I Substitution - coding silent Bone COSM3814729 BAZ1A c.1248G>A p.V416V Substitution - coding silent Breast COSM5885085 HNF1A c.? p.N62S Substitution - Missense Soft_tissue COSM4896273 PRDM10 c.2849C>T p.S950F Substitution - Missense Skin COSM1436884 PRDM9 c.1315C>T p.Q439* Substitution - Nonsense Stomach COSM4457589 BRD1 c.1051C>T p.H351Y Substitution - Missense Skin COSM3514569 NCOR1 c.436G>A p.D146N Substitution - Missense Skin COSM215525 KDM1A c.1207G>A p.E403K Substitution - Missense Central_nervous_system COSM4823936 CHD3 c.5800G>A p.A1934T Substitution - Missense Cervix COSM4816358 PRDM4 c.124C>G p.H42D Substitution - Missense Cervix COSM5647568 CHD8 c.3896C>G p.S1299C Substitution - Missense Oesophagus COSM166528 DNMT3A c.2222C>T p.A741V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4823275 SMARCA5 c.2944C>T p.Q982* Substitution - Nonsense Cervix COSM4002750 PBRM1 c.996-4G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM312543 LMNB2 c.1682C>T p.S561L Substitution - Missense Lung COSM207998 MECOM c.1839delA p.G614fs*30 Deletion - Frameshift Large_intestine COSM223584 HCFC2 c.531G>T p.W177C Substitution - Missense Skin COSM5896459 EP300 c.2773C>T p.P925S Substitution - Missense Skin COSM1440431 L3MBTL3 c.2281A>C p.K761Q Substitution - Missense Large_intestine COSM5724500 PRMT3 c.1044G>A p.K348K Substitution - coding silent Skin COSM1190485 BRD1 c.1603G>A p.A535T Substitution - Missense Large_intestine COSM2166349 KAT5 c.477C>A p.P159P Substitution - coding silent Upper_aerodigestive_tract COSM1614602 HDAC4 c.637C>T p.Q213* Substitution - Nonsense Liver COSM1348873 SFMBT2 c.1897_1902delCTAGAG p.L633_E634delLE Deletion - In frame Large_intestine COSM1360186 EP400 c.8178A>G p.Q2726Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1035253 BRD1 c.859G>A p.D287N Substitution - Missense Endometrium COSM2859922 TRIM24 c.2651C>A p.A884D Substitution - Missense Large_intestine COSM1363039 SMARCC2 c.3128delC p.P1043fs*18 Deletion - Frameshift Large_intestine COSM4494828 CHD7 c.4404C>T p.A1468A Substitution - coding silent Skin COSM3899936 ASH2L c.975T>C p.L325L Substitution - coding silent Stomach COSM4477894 SETD1A c.2194C>T p.L732L Substitution - coding silent Skin COSM3762398 TIF1 c.2487A>G p.G829G Substitution - coding silent Soft_tissue COSM1027524 ZMYND8 c.1774+2T>C p.? Unknown Endometrium COSM5978093 SETDB1 c.1586C>T p.P529L Substitution - Missense Upper_aerodigestive_tract COSM5661530 DOT1L c.2558G>T p.R853L Substitution - Missense Soft_tissue COSM4437048 TET2 c.3524T>A p.I1175N Substitution - Missense Oesophagus COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4987393 KDM6B c.2258C>T p.T753I Substitution - Missense Soft_tissue COSM129864 TP53BP1 c.850C>G p.L284V Substitution - Missense Upper_aerodigestive_tract COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1262949 PRDM15 c.4385G>A p.S1462N Substitution - Missense Stomach COSM3726256 PHF20L1 c.88C>T p.P30S Substitution - Missense Lung COSM5716478 PCGF2 c.351C>T p.V117V Substitution - coding silent Skin COSM4640788 HDAC9 c.1771C>T p.R591C Substitution - Missense Large_intestine COSM1373030 TP53BP1 c.163G>T p.E55* Substitution - Nonsense Large_intestine COSM1470012 KDM5D c.4325G>A p.R1442Q Substitution - Missense Large_intestine COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM993839 DOT1L c.3645G>A p.P1215P Substitution - coding silent Endometrium COSM4825299 SND1 c.1164G>C p.K388N Substitution - Missense Cervix COSM86979 IKZF1 c.41-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4031018 ARID1A c.4534C>T p.Q1512* Substitution - Nonsense Stomach COSM3622179 JARID2 c.2431C>T p.H811Y Substitution - Missense Skin COSM254669 EP300 c.4662G>C p.K1554N Substitution - Missense Urinary_tract COSM1673581 TRIM24 c.2906T>G p.F969C Substitution - Missense Large_intestine COSM5399792 SFMBT1 c.2300C>T p.S767F Substitution - Missense Skin COSM3712777 CARM1 c.823G>T p.A275S Substitution - Missense Upper_aerodigestive_tract COSM1083 SMARCB1 c.?_?del? p.?del Deletion - In frame Soft_tissue COSM4602726 PRDM13 c.2104G>A p.G702S Substitution - Missense Upper_aerodigestive_tract COSM5790367 TAF1L c.662A>T p.E221V Substitution - Missense Breast COSM4847816 EZH1 c.1905G>C p.K635N Substitution - Missense Cervix COSM3634199 JHDM1D c.1239C>T p.T413T Substitution - coding silent Skin COSM1124903 TAF1 c.3535T>C p.Y1179H Substitution - Missense Endometrium COSM3791652 PHRF1 c.3365G>A p.C1122Y Substitution - Missense Urinary_tract COSM3778874 ATAD2 c.607G>C p.E203Q Substitution - Missense Urinary_tract COSM4046668 RNF17 c.1022C>G p.P341R Substitution - Missense Stomach COSM5564273 CBX8 c.362G>T p.R121L Substitution - Missense Prostate COSM110734 BAP1 c.139A>T p.I47F Substitution - Missense Eye COSM1715923 SMARCA4 c.2074G>T p.D692Y Substitution - Missense Liver COSM328008 IKZF1 c.851-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5403415 NIPBL c.5099C>T p.S1700L Substitution - Missense Skin COSM727023 EP300 c.6489C>T p.P2163P Substitution - coding silent Lung COSM328978 KMT2C c.8390delA p.K2797fs*26 Deletion - Frameshift Liver COSM2819133 PRDM15 c.1564G>A p.V522M Substitution - Missense Upper_aerodigestive_tract COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53031 EZH2 c.965A>G p.N322S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1167718 SETD2 c.1583delT p.V528fs*90 Deletion - Frameshift Skin COSM4384266 EZH2 c.1798delG p.D600fs*75 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3747400 SCML2 c.1068A>G p.T356T Substitution - coding silent Liver COSM336150 PRDM15 c.4020C>T p.S1340S Substitution - coding silent Lung COSM5418406 NCOA3 c.299T>C p.V100A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1008169 BAZ2B c.541G>C p.V181L Substitution - Missense Endometrium COSM1190584 BRWD3 c.5342G>A p.R1781K Substitution - Missense Lung COSM1672348 BRPF3 c.143G>A p.R48H Substitution - Missense Large_intestine COSM3447490 PHF21A c.783C>T p.I261I Substitution - coding silent Skin COSM254904 PRDM10 c.82C>G p.P28A Substitution - Missense Urinary_tract COSM1179497 MYST2 c.1687C>T p.Q563* Substitution - Nonsense Prostate COSM910656 ORC1 c.961C>T p.R321* Substitution - Nonsense Skin COSM3927754 BAZ2B c.977A>C p.H326P Substitution - Missense Thyroid COSM5067297 TDG c.613_615-3del201 p.? Unknown Large_intestine COSM3704308 MBD6 c.2820+10G>T p.? Unknown Liver COSM4835224 MLL5 c.5233C>G p.Q1745E Substitution - Missense Cervix COSM5793894 RAG2 c.1378G>A p.D460N Substitution - Missense Breast COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Bone COSM128142 HDAC7 c.1152C>T p.H384H Substitution - coding silent Upper_aerodigestive_tract COSM5685439 EHMT2 c.627C>T p.R209R Substitution - coding silent Soft_tissue COSM4918372 AICDA c.103A>T p.R35W Substitution - Missense Liver COSM5042057 BAZ2A c.1204G>A p.A402T Substitution - Missense Liver COSM5652006 CREBBP c.3234_3250+31del48 p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1752067 BAZ2B c.45T>G p.T15T Substitution - coding silent Urinary_tract COSM132978 ASXL1 c.? p.R965* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3833175 BAZ1B c.2467G>T p.E823* Substitution - Nonsense Breast COSM1440972 SHPRH c.495delA p.E166fs*3 Deletion - Frameshift Large_intestine COSM4713929 PHF15 c.102_104delCAG p.S36delS Deletion - In frame Large_intestine COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1114801 SMARCA1 c.1299A>C p.K433N Substitution - Missense Endometrium COSM301526 DIDO1 c.2755_2756GC>AT p.A919>? Complex Large_intestine COSM1450071 STK31 c.7G>A p.V3I Substitution - Missense Large_intestine COSM4062128 PRMT7 c.596T>C p.I199T Substitution - Missense Stomach COSM2149974 ATAD2 c.2389A>G p.I797V Substitution - Missense Central_nervous_system COSM486569 CHD7 c.5459G>A p.R1820Q Substitution - Missense Kidney COSM1475746 DPF2 c.975C>T p.I325I Substitution - coding silent Breast COSM52947 IDH2 c.? p.R172? Substitution - Missense Bone COSM4879339 ZMYM3 c.2923C>T p.R975* Substitution - Nonsense Prostate COSM3383084 BTAF1 c.1245T>A p.Y415* Substitution - Nonsense Pancreas COSM3883702 TRRAP c.1841A>G p.Y614C Substitution - Missense Stomach COSM4722077 RNF2 c.988G>A p.A330T Substitution - Missense Large_intestine COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Upper_aerodigestive_tract COSM1201020 CHD9 c.6613A>C p.K2205Q Substitution - Missense Large_intestine COSM1439947 HDAC2 c.875T>G p.F292C Substitution - Missense Large_intestine COSM1674763 PHF19 c.501G>T p.R167S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3366540 TDRD6 c.2366G>C p.C789S Substitution - Missense Kidney COSM3360332 POGZ c.3958C>A p.Q1320K Substitution - Missense Kidney COSM487371 TAF1L c.3731G>A p.R1244Q Substitution - Missense Biliary_tract COSM1071055 BRD9 c.1078C>A p.L360I Substitution - Missense Endometrium COSM1726283 PRDM10 c.1963C>A p.L655M Substitution - Missense Liver COSM220419 L3MBTL4 c.50G>A p.R17H Substitution - Missense Breast COSM136895 HDAC7 c.2612G>A p.G871D Substitution - Missense Skin COSM5695705 HDAC6 c.2364A>C p.S788S Substitution - coding silent Soft_tissue COSM4527903 TRIM66 c.1498G>T p.A500S Substitution - Missense Skin COSM1479768 AKAP1 c.2700C>T p.Y900Y Substitution - coding silent Breast COSM3996011 ELP3 c.1592G>C p.R531T Substitution - Missense Kidney COSM900300 TDRD5 c.1498G>A p.E500K Substitution - Missense Endometrium COSM1312879 KMT2C c.4045C>T p.R1349* Substitution - Nonsense Skin COSM5455757 BRD3 c.1322G>A p.R441H Substitution - Missense Large_intestine COSM1695333 BRD9 c.478C>T p.P160S Substitution - Missense Skin COSM1416614 TCF20 c.5826delC p.L1943fs*>18 Deletion - Frameshift Breast COSM308445 PBRM1 c.3759_3760insA p.I1254fs*5 Insertion - Frameshift Kidney COSM4985906 PRMT6 c.802G>A p.E268K Substitution - Missense Soft_tissue COSM4767395 ATRX c.3786_3788delTGA p.D1264del Deletion - In frame Adrenal_gland COSM1406134 SP100 c.2275delA p.K761fs*40 Deletion - Frameshift Large_intestine COSM3793165 MPHOSPH8 c.510G>A p.K170K Substitution - coding silent Urinary_tract COSM5964371 DNMT1 c.1048C>T p.P350S Substitution - Missense Breast COSM4840336 PHF16 c.2317C>T p.L773L Substitution - coding silent Cervix COSM456578 MSL3 c.1012C>T p.R338C Substitution - Missense Breast COSM1719608 MYST1 c.1143C>T p.S381S Substitution - coding silent Skin COSM43505 TET2 c.? p.R1516* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM278972 ARID4A c.677G>A p.R226K Substitution - Missense Large_intestine COSM3431922 TRRAP c.7039C>T p.R2347W Substitution - Missense Large_intestine COSM6013749 SFMBT2 c.176C>T p.P59L Substitution - Missense Skin COSM4172420 BRPF3 c.1887C>A p.F629L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5600613 TAF1L c.1792G>A p.G598S Substitution - Missense Skin COSM97189 ASXL1 c.2580_2581delAG p.R860fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1390025 DNMT1 c.2152delA p.M718fs*59 Deletion - Frameshift Pancreas COSM5734160 PHRF1 c.2794C>T p.R932W Substitution - Missense Pancreas COSM4109794 HDAC6 c.789C>T p.T263T Substitution - coding silent Stomach COSM4821768 CREBBP c.5277A>T p.P1759P Substitution - coding silent Cervix COSM341440 ARID1B c.1659A>G p.P553P Substitution - coding silent Lung COSM1733884 DOT1L c.3337G>A p.V1113I Substitution - Missense Pancreas COSM981688 AKAP1 c.1997A>G p.K666R Substitution - Missense Endometrium COSM1618155 BRPF1 c.2101G>A p.E701K Substitution - Missense Liver COSM4075943 GATAD2A c.1215A>G p.S405S Substitution - coding silent Stomach COSM4070328 CHD3 c.432G>T p.L144L Substitution - coding silent Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4995435 ARID1A c.827G>A p.G276E Substitution - Missense Upper_aerodigestive_tract COSM941732 BAZ2A_ENST00000379441 c.4373G>A p.R1458Q Substitution - Missense Endometrium COSM5028229 NCOR1 c.7055C>G p.S2352* Substitution - Nonsense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1291182 BRWD1 c.3561C>G p.G1187G Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4742913 ZMYM3 c.3970C>T p.R1324W Substitution - Missense Large_intestine COSM5720372 BRD8 c.3665G>A p.G1222E Substitution - Missense Skin COSM474434 DOT1L c.687G>A p.R229R Substitution - coding silent Kidney COSM4130815 BAHCC1 c.7595T>G p.L2532R Substitution - Missense Thyroid COSM757491 ATRX c.2058G>T p.K686N Substitution - Missense Lung COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM221168 KMT2D c.9104_9119del16 p.S3035fs*20 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM145810 PRDM9 c.920G>A p.G307E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM302137 EP400 c.8181A>G p.Q2727Q Substitution - coding silent Prostate COSM269099 EP400 c.8940C>A p.A2980A Substitution - coding silent Large_intestine COSM4477059 JHDM1D c.2118C>T p.F706F Substitution - coding silent Skin COSM4967148 ASXL3 c.39T>C p.A13A Substitution - coding silent Central_nervous_system COSM4994898 SIRT1 c.1624G>C p.E542Q Substitution - Missense Upper_aerodigestive_tract COSM3763958 KIAA2026_ENST00000399933 c.288C>T p.G96G Substitution - coding silent Large_intestine COSM131496 SMARCA4 c.4471C>T p.R1491* Substitution - Nonsense Large_intestine COSM4480741 BAZ2A c.2556C>T p.I852I Substitution - coding silent Skin COSM1748622 RERE c.3761G>A p.R1254Q Substitution - Missense Urinary_tract COSM138856 PRMT8 c.686G>A p.R229K Substitution - Missense Skin COSM133001 ARID1A c.5548_5548delG p.D1850fs*33 Deletion - Frameshift Large_intestine COSM1580936 GABRG1 c.949A>T p.S317C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM329033 CTCF c.189G>T p.M63I Substitution - Missense Liver COSM2848402 GABRG1 c.603C>T p.S201S Substitution - coding silent Large_intestine COSM41731 TET2 c.4_4delG p.E2fs*13 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5552766 ING3 c.373G>T p.E125* Substitution - Nonsense Prostate COSM4837748 SMARCA4 c.1645C>T p.R549C Substitution - Missense Cervix COSM227767 TRRAP c.9475C>T p.R3159W Substitution - Missense Skin COSM1724609 PHF8 c.2383_2385delGAG p.E795delE Deletion - In frame Large_intestine COSM3660908 SMARCA5 c.3062C>T p.A1021V Substitution - Missense Liver COSM1965130 KAT6B c.3243A>C p.E1081D Substitution - Missense Large_intestine COSM336860 SHPRH c.2348A>T p.D783V Substitution - Missense Lung COSM110735 BAP1 c.1379C>G p.S460* Substitution - Nonsense Cervix COSM34039 IDH2 c.514A>T p.R172W Substitution - Missense Biliary_tract COSM43420 TET2 c.4546C>T p.R1516* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM51486 ARID1A c.4129_4130insA p.Y1377fs*1 Insertion - Frameshift Ovary COSM53207 ASXL1 c.2387G>A p.W796* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM85840 MEN1 c.282_282delC p.A95fs*24 Deletion - Frameshift Pancreas COSM51105 TAF1L c.3786T>G p.L1262L Substitution - coding silent Large_intestine COSM107869 EP400 c.126C>T p.F42F Substitution - coding silent Large_intestine COSM106856 SMYD4 c.189G>C p.K63N Substitution - Missense Skin COSM87136 TET2 c.3866G>A p.C1289Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM88753 CREBBP c.4506G>T p.W1502C Substitution - Missense Urinary_tract COSM110773 TET2 c.980_980delC p.S327fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM87130 TET2 c.3781C>T p.R1261C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM124127 LMNB1 c.605C>T p.T202I Substitution - Missense Upper_aerodigestive_tract COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Soft_tissue COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Upper_aerodigestive_tract COSM245199 KDM5C c.1973T>C p.L658P Substitution - Missense Prostate COSM254835 NCOR1 c.4465C>G p.Q1489E Substitution - Missense Urinary_tract COSM296743 ATAD2 c.3360G>A p.P1120P Substitution - coding silent Large_intestine COSM342894 DPF1 c.81C>A p.N27K Substitution - Missense Lung COSM389521 PRDM9 c.2184C>A p.G728G Substitution - coding silent Lung COSM419422 PHF20 c.256G>A p.E86K Substitution - Missense Large_intestine COSM430522 HNF1A c.79A>C p.I27L Substitution - Missense Soft_tissue COSM976118 RAI1 c.1138G>A p.G380R Substitution - Missense Endometrium COSM987409 SMCHD1 c.1092G>T p.Q364H Substitution - Missense Endometrium COSM695013 APOBEC1 c.462G>T p.R154S Substitution - Missense Lung COSM674181 ARID1A c.5532G>A p.W1844* Substitution - Nonsense Lung COSM1049753 TET2 c.2276C>A p.T759N Substitution - Missense Endometrium COSM936107 SETD1B c.2236C>T p.R746C Substitution - Missense Endometrium COSM729792 ACTL6A c.132G>T p.V44V Substitution - coding silent Lung COSM903694 SMYD2 c.849C>T p.S283S Substitution - coding silent Endometrium COSM896909 ASH1L c.6943C>T p.H2315Y Substitution - Missense Endometrium COSM896923 ASH1L c.4497G>A p.Q1499Q Substitution - coding silent Endometrium COSM895731 VPS72 c.762C>T p.P254P Substitution - coding silent Large_intestine COSM958931 UBR7 c.473G>A p.C158Y Substitution - Missense Endometrium COSM959473 SETD3 c.1510G>T p.E504* Substitution - Nonsense Endometrium COSM970574 CREBBP c.4211G>T p.G1404V Substitution - Missense Endometrium COSM1066263 NSD1 c.4621C>G p.L1541V Substitution - Missense Endometrium COSM1117765 HCFC1 c.688G>A p.A230T Substitution - Missense Endometrium COSM1106567 WDR5 c.632-1G>T p.? Unknown Endometrium COSM1099943 MYST3 c.2398G>A p.E800K Substitution - Missense Endometrium COSM1163731 ADNP c.3047delA p.K1016fs*11 Deletion - Frameshift Pancreas COSM1199735 CBX4 c.694G>A p.G232R Substitution - Missense Large_intestine COSM1258616 MYST1 c.1049A>C p.E350A Substitution - Missense Pancreas COSM1225795 SIRT3 c.45G>T p.W15C Substitution - Missense Large_intestine COSM1315671 ZMYM3 c.515C>T p.S172F Substitution - Missense Urinary_tract COSM1290457 CHD2 c.1934C>T p.T645M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1393329 DPF1 c.803C>T p.T268M Substitution - Missense Large_intestine COSM1458098 EYA1 c.1443G>A p.L481L Substitution - coding silent Large_intestine COSM1348891 SFMBT2 c.1363G>T p.D455Y Substitution - Missense Large_intestine COSM1565754 NCOA5 c.238G>A p.D80N Substitution - Missense Large_intestine COSM1608337 INOC1 c.928-3C>G p.? Unknown Liver COSM1494194 GATAD2A c.217G>A p.G73S Substitution - Missense Large_intestine COSM1623570 ATAD2 c.3478+8C>T p.? Unknown Liver COSM1672249 JARID2 c.1577C>G p.S526C Substitution - Missense Large_intestine COSM1675369 KAT6B c.5917C>T p.P1973S Substitution - Missense Large_intestine COSM1716724 ATRX c.6336_6339delATTT p.F2113fs*9 Deletion - Frameshift Central_nervous_system COSM2105644 KMT2A c.11271C>A p.P3757P Substitution - coding silent Large_intestine COSM2965452 KDM6A c.3600T>A p.L1200L Substitution - coding silent Upper_aerodigestive_tract COSM3296117 MBD5 c.1120G>A p.V374I Substitution - Missense Upper_aerodigestive_tract COSM3366299 EYA4 c.1113G>A p.V371V Substitution - coding silent Kidney COSM3402225 GTF3C1 c.3535G>C p.G1179R Substitution - Missense Central_nervous_system COSM3396412 SMARCA1 c.1505-3T>G p.? Unknown Prostate COSM3479279 TDRD5 c.747G>A p.P249P Substitution - coding silent Oesophagus COSM3589854 MECOM c.2120C>T p.S707L Substitution - Missense Skin COSM3561978 HDAC6 c.1782C>T p.L594L Substitution - coding silent Skin COSM3525870 SETBP1 c.3114C>T p.F1038F Substitution - coding silent Skin COSM3698818 ATAD2 c.463C>T p.R155C Substitution - Missense Large_intestine COSM3699895 EPC1 c.523T>C p.Y175H Substitution - Missense Liver COSM3667498 SMYD3 c.995A>G p.K332R Substitution - Missense Liver COSM3700854 BAZ1A c.464G>T p.S155I Substitution - Missense Liver COSM3703936 SETD8 c.290-3C>A p.? Unknown Prostate COSM3720075 TET2 c.4974G>T p.L1658L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3737970 CHD7 c.2482G>A p.V828M Substitution - Missense Soft_tissue COSM3757772 HAT1 c.407T>C p.F136S Substitution - Missense Large_intestine COSM3770620 DOT1L c.2839G>A p.G947R Substitution - Missense Soft_tissue COSM3773957 HDAC4 c.2361A>G p.T787T Substitution - coding silent Kidney COSM3858042 NCOA7 c.610G>A p.E204K Substitution - Missense Stomach COSM3942054 TRIM24 c.2087G>A p.S696N Substitution - Missense Oesophagus COSM3911101 DNMT3B c.2333C>T p.S778L Substitution - Missense Skin COSM3889508 SUZ12 c.2043C>T p.L681L Substitution - coding silent Skin COSM4016603 BTAF1 c.2295C>T p.D765D Substitution - coding silent Stomach COSM4021111 TTF2 c.2420A>G p.E807G Substitution - Missense Stomach COSM4023066 ASH1L c.1580G>A p.C527Y Substitution - Missense Stomach COSM4031598 PHC2 c.162G>A p.R54R Substitution - coding silent Stomach COSM4110893 TAF1 c.2189T>A p.F730Y Substitution - Missense Stomach COSM4069639 ZBTB4 c.243C>T p.T81T Substitution - coding silent Stomach COSM4070386 CHD3 c.3890A>G p.D1297G Substitution - Missense Stomach COSM4145728 PHF21A c.975C>A p.S325R Substitution - Missense Upper_aerodigestive_tract COSM4161998 KMT2C c.2726G>A p.R909K Substitution - Missense Biliary_tract COSM4162018 KMT2C c.2315C>T p.S772L Substitution - Missense Upper_aerodigestive_tract COSM4156642 FMR1 c.357A>C p.K119N Substitution - Missense Upper_aerodigestive_tract COSM4170081 ARID1B c.190_192delCAG p.Q73delQ Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM4188840 PBRM1 c.3107_3108delTG p.V1036fs*9 Deletion - Frameshift Kidney COSM4383588 DNMT3A c.1067A>G p.Q356R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4494531 SETD2 c.2841C>T p.V947V Substitution - coding silent Skin COSM4496973 SMARCA4 c.4775C>T p.S1592F Substitution - Missense Skin COSM4578875 GTF3C1 c.5537C>T p.P1846L Substitution - Missense Bone COSM4585360 LMNB1 c.1536C>T p.D512D Substitution - coding silent Bone COSM4460968 TDRD3 c.908C>T p.S303L Substitution - Missense Skin COSM4410866 KDM2B c.2805delT p.H936fs*4 Deletion - Frameshift Kidney COSM4702492 KMT2C c.9485C>A p.P3162H Substitution - Missense Large_intestine COSM4663692 ASH1L c.8852G>A p.R2951Q Substitution - Missense Large_intestine COSM4712693 PCGF2 c.406G>A p.E136K Substitution - Missense Large_intestine COSM4642455 DIDO1 c.6146C>T p.A2049V Substitution - Missense Large_intestine COSM4612312 SETD1B c.1376_1377insC p.R461fs*5 Insertion - Frameshift Large_intestine COSM4747068 MGA c.7727delA p.R2578fs*28 Deletion - Frameshift Stomach COSM4792286 KDM3A c.2093-1G>A p.? Unknown Liver COSM4939525 ZMYM4 c.4335A>G p.K1445K Substitution - coding silent Liver COSM4841495 BRWD1 c.6190G>A p.E2064K Substitution - Missense Cervix COSM4955050 HCFC1 c.3618C>A p.N1206K Substitution - Missense Liver COSM5006101 TIF1 c.507_508insA p.A170fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4979535 ATAD2 c.1498G>C p.D500H Substitution - Missense Oesophagus COSM5020195 MEN1 c.1049+9C>T p.? Unknown Soft_tissue COSM5018663 ARID1A c.5287_5289delGAA p.E1767delE Deletion - In frame Soft_tissue COSM5015994 SETD2 c.4404_4407delAGAA p.E1468fs*34 Deletion - Frameshift Kidney COSM5057844 EP300 c.1880C>T p.A627V Substitution - Missense Prostate COSM5056201 SMARCA4 c.3729G>A p.R1243R Substitution - coding silent Stomach COSM5045755 ZMYM1 c.2311C>T p.L771F Substitution - Missense Oesophagus COSM5347001 ARID1A c.2686G>T p.E896* Substitution - Nonsense Endometrium COSM5347001 ARID1A c.2686G>T p.E896* Substitution - Nonsense Endometrium COSM5375828 ING4 c.315C>T p.A105A Substitution - coding silent Skin COSM5407047 KMT2C c.9084C>T p.P3028P Substitution - coding silent Skin COSM5502537 MBD5 c.1750G>T p.A584S Substitution - Missense Biliary_tract COSM5472892 SMC1A c.2272C>T p.R758* Substitution - Nonsense Large_intestine COSM5441675 ACTR5 c.1318C>T p.H440Y Substitution - Missense Oesophagus COSM5437775 KDM6A c.1177C>T p.R393* Substitution - Nonsense Oesophagus COSM5433126 BRWD1 c.2233G>C p.E745Q Substitution - Missense Oesophagus COSM5449430 EYA2 c.1554G>A p.W518* Substitution - Nonsense Large_intestine COSM5644005 KMT2D c.11582C>A p.P3861H Substitution - Missense Oesophagus COSM5624448 BAZ2B c.3783G>T p.K1261N Substitution - Missense Oesophagus COSM5647832 CREBBP c.3172G>C p.E1058Q Substitution - Missense Oesophagus COSM5612531 SETD5_ENST00000402198 c.2258A>G p.K753R Substitution - Missense Adrenal_gland COSM5753951 SMARCD1 c.781C>T p.R261C Substitution - Missense Large_intestine COSM5771729 ACTR8 c.1054C>T p.H352Y Substitution - Missense Breast COSM5771396 KMT2D c.14849G>A p.R4950H Substitution - Missense Breast COSM144619 KMT2D c.9559_9560delCT p.L3187fs*10 Deletion - Frameshift Breast COSM5599299 CHD9 c.5461G>A p.E1821K Substitution - Missense Skin COSM5617522 FMR1 c.909G>C p.L303L Substitution - coding silent Lung COSM5749826 PRDM14 c.496A>G p.T166A Substitution - Missense Genital_tract COSM5879924 KDM6A c.823A>G p.K275E Substitution - Missense Central_nervous_system COSM5878853 DNMT3A c.1120C>T p.Q374* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5883774 MECOM c.1135G>A p.E379K Substitution - Missense Skin COSM5942915 PRDM15 c.703-5C>T p.? Unknown Skin COSM5885450 GATAD2A c.1431G>A p.M477I Substitution - Missense Urinary_tract COSM22661 MEN1 c.?_?delTGTC p.?fs Deletion - Frameshift Soft_tissue COSM255124 MEN1 c.? p.V161F Substitution - Missense Parathyroid COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM1737891 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Bone COSM914359 ASXL1 c.? p.E788fs*10 Frameshift Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM231055 PRDM9 c.1790C>G p.T597S Substitution - Missense Skin COSM36248 IDH1 c.? p.R132? Substitution - Missense Bone COSM5190781 ATF2 c.1185G>T p.Q395H Substitution - Missense Large_intestine COSM1369113 PRMT5 c.1A>G p.M1V Substitution - Missense Large_intestine COSM1085183 SND1 c.1394A>G p.Y465C Substitution - Missense Endometrium COSM905706 KDM1A c.847A>G p.N283D Substitution - Missense Endometrium COSM1485574 TET2 c.4150G>C p.D1384H Substitution - Missense Breast COSM391756 PHIP c.2270_2297del28 p.R757fs*47 Deletion - Frameshift Lung COSM3692335 SMARCA4 c.1810G>A p.E604K Substitution - Missense Large_intestine COSM5619107 KDM1B c.93G>A p.K31K Substitution - coding silent Breast COSM5918710 NIPBL c.6610C>T p.P2204S Substitution - Missense Skin COSM5088573 BRD3 c.644delC p.P215fs*28 Deletion - Frameshift Large_intestine COSM1645088 TRRAP c.6953C>T p.A2318V Substitution - Missense Salivary_gland COSM1128024 JMJD1C c.6894G>C p.E2298D Substitution - Missense Prostate COSM4476641 ZMYM6 c.2084C>T p.P695L Substitution - Missense Skin COSM5358724 MYST3 c.3871C>T p.Q1291* Substitution - Nonsense Large_intestine COSM273278 SMARCC2 c.1890C>T p.R630R Substitution - coding silent Large_intestine COSM5982179 CHD2 c.2524A>G p.K842E Substitution - Missense Upper_aerodigestive_tract COSM977543 SUZ12 c.426G>T p.E142D Substitution - Missense Endometrium COSM1384126 MYST2 c.1525C>T p.R509C Substitution - Missense Large_intestine COSM1128024 JMJD1C c.6894G>C p.E2298D Substitution - Missense Large_intestine COSM1128024 JMJD1C c.6894G>C p.E2298D Substitution - Missense Breast COSM1099597 WHSC1L1 c.806A>G p.Q269R Substitution - Missense Endometrium COSM3938979 SP140_ENST00000392045 c.934G>C p.E312Q Substitution - Missense Oesophagus COSM5439082 ZMYM2 c.308C>T p.S103L Substitution - Missense Oesophagus COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM5967895 ATAD2 c.147C>A p.P49P Substitution - coding silent Genital_tract COSM3413106 NCOA2 c.1323T>C p.F441F Substitution - coding silent Central_nervous_system COSM3858219 L3MBTL3 c.2052C>A p.P684P Substitution - coding silent Stomach COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM4011745 TDRD1 c.507T>G p.T169T Substitution - coding silent Stomach COSM3685393 MYST3 c.5073A>T p.P1691P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5685622 SRCAP c.1800G>T p.T600T Substitution - coding silent Soft_tissue COSM1979517 PRDM11 c.909T>A p.G303G Substitution - coding silent Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4794850 PRDM15 c.1104G>A p.R368R Substitution - coding silent Liver COSM2848397 GABRG1 c.647T>C p.I216T Substitution - Missense Large_intestine COSM688081 PHF21A c.279G>T p.Q93H Substitution - Missense Lung COSM3524748 SMCHD1 c.850C>T p.R284C Substitution - Missense Skin COSM3634195 JHDM1D c.1995C>T p.S665S Substitution - coding silent Skin COSM361132 PRMT8 c.753G>T p.R251R Substitution - coding silent Lung COSM5126940 SETBP1 c.1677G>A p.P559P Substitution - coding silent Oesophagus COSM41294 IDH1 c.? p.R132C Substitution - Missense Soft_tissue COSM3873166 DAXX c.1584G>A p.V528V Substitution - coding silent Stomach COSM5801358 PRDM15 c.565_574del10 p.W189fs*33 Deletion - Frameshift Breast COSM2777551 KIAA2026_ENST00000399933 c.3776C>T p.T1259I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM1161941 SETD2 c.2900C>T p.P967L Substitution - Missense Kidney COSM108530 RAG2 c.418C>T p.H140Y Substitution - Missense Skin COSM53125 TET2 c.? p.E1845fs*42 Frameshift Haematopoietic_and_lymphoid_tissue COSM2078423 PRDM16 c.2171C>T p.A724V Substitution - Missense Large_intestine COSM4995491 RERE c.2036C>T p.S679L Substitution - Missense Upper_aerodigestive_tract COSM3627969 TDRD6 c.5760G>A p.M1920I Substitution - Missense Skin COSM1026083 NCOA6 c.3090_3092delGCA p.Q1032delQ Deletion - In frame Large_intestine COSM4441486 EYA2 c.631G>A p.V211I Substitution - Missense Large_intestine COSM1239175 JARID2 c.1266delG p.R425fs*36 Deletion - Frameshift Large_intestine COSM4622495 EP400 c.8491G>A p.A2831T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3262539 KMT2C c.11374C>T p.Q3792* Substitution - Nonsense Breast COSM5766034 EP400 c.8682A>G p.G2894G Substitution - coding silent Large_intestine COSM4963845 ING2 c.696G>T p.Q232H Substitution - Missense Pancreas COSM5656562 CHD7 c.6366A>G p.L2122L Substitution - coding silent Soft_tissue COSM5398614 MECOM c.1054G>A p.D352N Substitution - Missense Skin COSM3939902 SCML2 c.845G>C p.R282T Substitution - Missense Oesophagus COSM150428 KMT2C c.2958A>G p.P986P Substitution - coding silent Soft_tissue COSM3440906 TAF3 c.759A>G p.A253A Substitution - coding silent Skin COSM4596479 BAHCC1 c.5240A>C p.N1747T Substitution - Missense Upper_aerodigestive_tract COSM443687 NCOA6 c.1375C>G p.Q459E Substitution - Missense Breast COSM2813804 SMARCA4 c.4338G>A p.P1446P Substitution - coding silent Large_intestine COSM930376 DPF2 c.18G>T p.E6D Substitution - Missense Endometrium COSM3604081 GABRG1 c.1341C>T p.F447F Substitution - coding silent Skin COSM1479744 MBTD1 c.935T>C p.I312T Substitution - Missense Breast COSM1679612 RAI1 c.2854G>T p.G952C Substitution - Missense Large_intestine COSM1073184 L3MBTL3 c.1942A>C p.M648L Substitution - Missense Endometrium COSM1034583 L3MBTL2 c.47T>A p.M16K Substitution - Missense Endometrium COSM5882796 PRDM7 c.91C>G p.R31G Substitution - Missense Large_intestine COSM1045689 DHX30 c.1223C>T p.A408V Substitution - Missense Endometrium COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM385679 NCOA6 c.843G>T p.Q281H Substitution - Missense Lung COSM450362 HDAC2 c.502C>T p.H168Y Substitution - Missense Breast COSM4780071 ATAD2B_ENST00000238789 c.391A>G p.T131A Substitution - Missense Liver COSM5959316 SMARCA1 c.139A>G p.T47A Substitution - Missense Thyroid COSM136163 POGZ c.3259C>T p.R1087* Substitution - Nonsense Skin COSM41715 ASXL1 c.3202C>T p.R1068* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM939214 KDM5A c.3041G>A p.G1014D Substitution - Missense Endometrium COSM1035233 BRD1 c.2251C>T p.L751F Substitution - Missense Endometrium COSM3693312 PRMT1 c.512G>A p.R171Q Substitution - Missense Large_intestine COSM4483944 BRD8 c.2750C>T p.P917L Substitution - Missense Skin COSM1296220 ARID1A c.1696C>T p.Q566* Substitution - Nonsense Urinary_tract COSM5813519 ASH1L c.3249A>T p.S1083S Substitution - coding silent Liver COSM5820146 ARID2 c.5207A>T p.H1736L Substitution - Missense Liver COSM5069460 MBD6 c.2098_2099insC p.Q702fs*15 Insertion - Frameshift Large_intestine COSM4777514 DAXX c.1286C>T p.S429F Substitution - Missense Breast COSM1621858 PHF3 c.2455A>G p.I819V Substitution - Missense Liver COSM1665669 PBRM1 c.2513_2517delATTTA p.D838fs*7 Deletion - Frameshift Kidney COSM5417541 IDH2 c.?_?insC p.?fs*? Unknown Endometrium COSM1479274 NCOR1 c.1591G>C p.E531Q Substitution - Missense Breast COSM2154440 PRDM16 c.1114G>T p.G372W Substitution - Missense Central_nervous_system COSM5436015 BAP1 c.25G>A p.E9K Substitution - Missense Oesophagus COSM4618199 CBX7 c.458G>A p.R153H Substitution - Missense Large_intestine COSM3806484 TDRD1 c.2196T>C p.H732H Substitution - coding silent Breast COSM3796843 GATAD2A c.1103G>A p.R368H Substitution - Missense Urinary_tract COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5026152 CLOCK c.1285A>G p.T429A Substitution - Missense Breast COSM3096254 HDAC8 c.259G>T p.D87Y Substitution - Missense Pancreas COSM3869612 GLYATL1 c.660G>A p.G220G Substitution - coding silent Skin COSM749491 ATAD2 c.3792G>C p.L1264F Substitution - Missense Lung COSM1426232 INTS12 c.612C>T p.R204R Substitution - coding silent Large_intestine COSM118225 TRRAP c.2322C>A p.L774L Substitution - coding silent Ovary COSM488465 KDM5C c.963+2T>C p.? Unknown Kidney COSM3525871 SETBP1 c.3134G>A p.G1045E Substitution - Missense Skin COSM452877 STK31 c.2240G>C p.R747P Substitution - Missense Breast COSM1363347 MBD6 c.2194delC p.Q734fs*18 Deletion - Frameshift Large_intestine COSM4627593 SETBP1 c.4703C>A p.P1568H Substitution - Missense Large_intestine COSM5787547 SCMH1 c.544G>A p.G182R Substitution - Missense Breast COSM5913859 CHD3 c.1504-6C>T p.? Unknown Skin COSM466115 HELLS c.819T>C p.P273P Substitution - coding silent Kidney COSM3394690 STK31 c.231G>T p.G77G Substitution - coding silent Pancreas COSM4587150 TIF1 c.2568A>G p.E856E Substitution - coding silent Bone COSM3753974 METTL21D c.188C>A p.A63D Substitution - Missense Large_intestine COSM51244 ARID1A c.2179_2188del10 p.R727fs*12 Deletion - Frameshift Ovary COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM4822520 MLL5 c.5230C>T p.H1744Y Substitution - Missense Cervix COSM287787 KIAA1045 c.900C>T p.A300A Substitution - coding silent Large_intestine COSM979592 EZH1 c.2220C>T p.I740I Substitution - coding silent Endometrium COSM3551337 AIRE c.972C>T p.S324S Substitution - coding silent Skin COSM69277 PHF6 c.730-1G>C p.? Unknown Ovary COSM4494747 CHD8 c.4397C>T p.S1466F Substitution - Missense Skin COSM3738494 TET2 c.? p.K306fs*1 Frameshift Haematopoietic_and_lymphoid_tissue COSM51200 ASXL1 c.1888_1910del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4628254 SETD7 c.193G>A p.D65N Substitution - Missense Large_intestine COSM5475179 MYST3 c.2597G>A p.G866D Substitution - Missense Large_intestine COSM4633632 KDM1A c.1931C>T p.A644V Substitution - Missense Large_intestine COSM1701032 TAF1L c.3772G>A p.E1258K Substitution - Missense Skin COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4707000 NIPBL c.8369A>G p.Q2790R Substitution - Missense Large_intestine COSM4623848 BRD4 c.1294T>C p.Y432H Substitution - Missense Large_intestine COSM4460834 MECOM c.616C>T p.H206Y Substitution - Missense Skin COSM5945692 ATRX c.? p.K971fs*? Frameshift Central_nervous_system COSM4650601 BRD1 c.2586G>A p.P862P Substitution - coding silent Large_intestine COSM738842 PRDM13 c.547C>A p.P183T Substitution - Missense Lung COSM1752066 BAZ2B c.2491G>A p.E831K Substitution - Missense Urinary_tract COSM4962184 EPC2 c.1293G>C p.L431F Substitution - Missense Pancreas COSM4855611 SMEK2 c.430G>T p.E144* Substitution - Nonsense Cervix COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM88025 SMARCA4 c.2729C>T p.T910M Substitution - Missense Central_nervous_system COSM1488480 STK31 c.1045A>G p.T349A Substitution - Missense Breast COSM4436598 NCOR1 c.3729A>C p.L1243F Substitution - Missense Oesophagus COSM4646644 ZGPAT c.253G>A p.A85T Substitution - Missense Large_intestine COSM4169525 TET2 c.? p.L1326S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1339914 ACTA1 c.726C>T p.Y242Y Substitution - coding silent Oesophagus COSM4932689 SFMBT2 c.2282T>C p.V761A Substitution - Missense Liver COSM278226 ZMYND8 c.2194G>A p.E732K Substitution - Missense Large_intestine COSM4991212 SMARCA4 c.390C>T p.A130A Substitution - coding silent Skin COSM1166751 LMNB1 c.548_551delAGTT p.L184fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1646577 ZMYM2 c.639G>A p.M213I Substitution - Missense Lung COSM4851443 SMARCB1 c.480G>A p.K160K Substitution - coding silent Cervix COSM4099083 ZMYND8 c.974C>T p.A325V Substitution - Missense Stomach COSM1131647 KMT2C c.2755G>C p.V919L Substitution - Missense Prostate COSM4748008 HCFC1 c.2267delG p.G756fs*22 Deletion - Frameshift Stomach COSM983349 BPTF c.7422A>C p.Q2474H Substitution - Missense Endometrium COSM1992288 APOBEC1 c.213G>A p.T71T Substitution - coding silent Biliary_tract COSM1021274 MSH6 c.2248A>C p.T750P Substitution - Missense Endometrium COSM5741104 BPTF c.850G>A p.A284T Substitution - Missense Small_intestine COSM158743 PHF6 c.860G>T p.G287V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM21486 HNF1A c.872delC p.P291fs*51 Deletion - Frameshift Large_intestine COSM5432514 KDM6A c.2971G>T p.E991* Substitution - Nonsense Oesophagus COSM3417080 CHD4 c.206A>C p.K69T Substitution - Missense Large_intestine COSM3533285 DPF1 c.744C>T p.S248S Substitution - coding silent Skin COSM34090 IDH2 c.516G>T p.R172S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM255240 GABRG1 c.143C>T p.T48M Substitution - Missense Central_nervous_system COSM1483638 CHD6 c.5770C>T p.P1924S Substitution - Missense Breast COSM5761578 BPTF c.3121G>A p.V1041I Substitution - Missense Pancreas COSM5967029 ARID2 c.5382A>T p.E1794D Substitution - Missense Pituitary COSM4383752 TET2 c.311delC p.S104fs*9 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52949 DNMT3A c.? p.F909C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM248486 ZMYM3 c.3080delC p.T1027fs*9 Deletion - Frameshift Prostate COSM4754805 KMT2D c.12259A>G p.R4087G Substitution - Missense Stomach COSM1288138 SP110 c.431C>A p.P144H Substitution - Missense Autonomic_ganglia COSM139181 DNMT3B c.59C>T p.S20L Substitution - Missense Skin COSM5562420 PRDM14 c.1267C>T p.P423S Substitution - Missense Prostate COSM1216867 NCOR1 c.2866G>A p.G956S Substitution - Missense Large_intestine COSM2182695 SETDB1 c.1619C>T p.S540L Substitution - Missense Cervix COSM41894 TET2 c.? p.P1962L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1413975 SETD4 c.610G>A p.V204I Substitution - Missense Large_intestine COSM1732087 PBRM1 c.2887delT p.Y963fs*51 Deletion - Frameshift Kidney COSM4486034 ARID2 c.3001C>T p.P1001S Substitution - Missense Skin COSM4805278 HCFC2 c.946G>C p.A316P Substitution - Missense Liver COSM1663350 PBRM1 c.439A>C p.T147P Substitution - Missense Kidney COSM3988518 CHD9 c.4003A>G p.S1335G Substitution - Missense Kidney COSM4714001 PHF21A c.206C>T p.P69L Substitution - Missense Stomach COSM126963 TDRD3 c.1903C>T p.R635* Substitution - Nonsense Upper_aerodigestive_tract COSM3918244 PRDM8 c.717C>T p.P239P Substitution - coding silent Skin COSM3948829 HDGFL1 c.154A>T p.S52C Substitution - Missense Lung COSM5420510 KMT2C c.2501A>T p.K834I Substitution - Missense Pancreas COSM3552565 SMARCB1 c.432C>T p.A144A Substitution - coding silent Skin COSM4418709 NSD1 c.2176T>C p.S726P Substitution - Missense Soft_tissue COSM1416614 TCF20 c.5826delC p.L1943fs*>18 Deletion - Frameshift Large_intestine COSM4646982 HDAC7 c.132G>A p.E44E Substitution - coding silent Large_intestine COSM5599342 CREBBP c.7047C>T p.V2349V Substitution - coding silent Skin COSM934228 HCFC2 c.1786C>T p.R596* Substitution - Nonsense Endometrium COSM5886823 RNF17 c.1324A>G p.K442E Substitution - Missense Skin COSM272844 KDM3B c.3118A>G p.N1040D Substitution - Missense Large_intestine COSM1235381 BAP1 c.862_920del59 p.A288fs*90 Deletion - Frameshift Eye COSM1026869 CHD6 c.3694C>T p.R1232* Substitution - Nonsense Endometrium COSM3461537 KMT2D c.12034C>T p.R4012* Substitution - Nonsense Cervix COSM1625693 HCFC1 c.3195T>A p.S1065S Substitution - coding silent Liver COSM5752471 KMT2C c.1193delG p.G398fs*7 Deletion - Frameshift Breast COSM5390453 KDM4B c.2344G>A p.G782S Substitution - Missense Skin COSM3925556 EYA1 c.410C>T p.S137F Substitution - Missense Skin COSM106761 ARID2 c.430C>T p.Q144* Substitution - Nonsense Skin COSM4694048 KAT5 c.442C>T p.R148C Substitution - Missense Large_intestine COSM75579 NCOA6 c.4045T>G p.S1349A Substitution - Missense Ovary COSM5461344 HDAC4 c.955G>A p.A319T Substitution - Missense Large_intestine COSM1678956 GTF3C1 c.5182C>T p.Q1728* Substitution - Nonsense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3596051 PHF7 c.1119C>T p.I373I Substitution - coding silent Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3361761 CREBBP c.2809C>A p.P937T Substitution - Missense Kidney COSM5586869 TRRAP c.198C>T p.I66I Substitution - coding silent Skin COSM971266 BRD7 c.830_831delAG p.E277fs*18 Deletion - Frameshift Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4639555 HDGFL1 c.556G>A p.A186T Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4669563 CBX2 c.1420G>A p.A474T Substitution - Missense Large_intestine COSM3656867 TAF1L c.1263C>T p.F421F Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5729167 ZBTB38 c.1704A>G p.L568L Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1325882 MBD5 c.4302G>A p.L1434L Substitution - coding silent Ovary COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1034257 CBX7 c.419G>A p.R140H Substitution - Missense Endometrium COSM85121 CHD7 c.8552A>G p.E2851G Substitution - Missense Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1127394 TDRKH c.544G>C p.E182Q Substitution - Missense Prostate COSM5451350 INOC1 c.1073G>A p.R358H Substitution - Missense Large_intestine COSM1387348 CHD3 c.1099delG p.E368fs*116 Deletion - Frameshift Large_intestine COSM3022243 ARID1B c.1551C>T p.Y517Y Substitution - coding silent Large_intestine COSM4449445 MGA c.2321-1G>A p.? Unknown Skin COSM4732891 TDRD1 c.1534delC p.Q512fs*66 Deletion - Frameshift Large_intestine COSM41741 TET2 c.5618T>C p.I1873T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5021466 PRDM9 c.2054C>T p.T685I Substitution - Missense Bone COSM3885124 RNF17 c.641G>A p.R214K Substitution - Missense Skin COSM4818298 WHSC1 c.463G>C p.E155Q Substitution - Missense Cervix COSM4633537 KDM2B c.1585A>G p.K529E Substitution - Missense Large_intestine COSM4114046 ZBTB38 c.420A>G p.E140E Substitution - coding silent Stomach COSM51896 SMYD4 c.1801G>C p.A601P Substitution - Missense Kidney COSM228521 TAF3 c.211C>T p.Q71* Substitution - Nonsense Skin COSM5405451 TDRD6 c.1722T>C p.N574N Substitution - coding silent Skin COSM4097810 NCOA6 c.1660A>G p.N554D Substitution - Missense Stomach COSM5019541 DAXX c.2112C>T p.A704A Substitution - coding silent Soft_tissue COSM299753 MLL5 c.3319C>T p.L1107L Substitution - coding silent Large_intestine COSM1675364 KAT6B c.3400G>T p.G1134C Substitution - Missense Large_intestine COSM3580229 NCOA1 c.3098C>T p.S1033L Substitution - Missense Skin COSM4766558 KIAA2026_ENST00000399933 c.2571G>T p.W857C Substitution - Missense Stomach COSM97155 PRDM1 c.357_358delAA p.S120fs*32 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM21485 HNF1A c.749A>C p.Q250P Substitution - Missense Liver COSM422759 PBRM1 c.625C>T p.Q209* Substitution - Nonsense Kidney COSM4983303 NCOA6 c.4267C>G p.Q1423E Substitution - Missense Oesophagus COSM3907581 KIAA2026_ENST00000399933 c.1821A>G p.P607P Substitution - coding silent Stomach COSM4922287 ELP3 c.1112T>C p.M371T Substitution - Missense Liver COSM1495273 TCF20 c.1606C>T p.Q536* Substitution - Nonsense Kidney COSM24933 HNF1A c.815G>A p.R272H Substitution - Missense Liver COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28805 KDM6A c.226_384del159 p.? Unknown Oesophagus COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM22573 MEN1 c.1351delG p.V451fs*7 Deletion - Frameshift Lung COSM85911 IKZF1 c.161-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51483 ARID1A c.4624G>T p.E1542* Substitution - Nonsense Liver COSM51426 ARID1A c.1687C>T p.Q563* Substitution - Nonsense Pancreas COSM87130 TET2 c.3781C>T p.R1261C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM138173 PRDM16 c.944C>T p.P315L Substitution - Missense Skin COSM138405 MECOM c.515C>T p.S172L Substitution - Missense Skin COSM144227 ATRX c.6406G>A p.D2136N Substitution - Missense Central_nervous_system COSM149732 PRDM5 c.1234T>C p.L412L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM223456 PHF21A c.340C>T p.P114S Substitution - Missense Skin COSM243667 CHD3 c.4359-2A>G p.? Unknown Prostate COSM245969 NCOA6 c.2741C>T p.P914L Substitution - Missense Prostate COSM244264 EP300 c.6802C>A p.Q2268K Substitution - Missense Prostate COSM248431 ZCWPW1 c.283G>A p.E95K Substitution - Missense Prostate COSM252973 CDYL2 c.354delA p.Y120fs*27 Deletion - Frameshift Large_intestine COSM283144 NCOA6 c.5267C>A p.S1756Y Substitution - Missense Large_intestine COSM277637 TDRD6 c.4531C>A p.L1511I Substitution - Missense Large_intestine COSM276886 PRDM5 c.592G>T p.E198* Substitution - Nonsense Endometrium COSM293040 WHSC1 c.1740G>A p.S580S Substitution - coding silent Large_intestine COSM287413 KDM5A c.3710C>T p.P1237L Substitution - Missense Skin COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Large_intestine COSM307187 BAP1 c.449_467del19 p.H151fs*30 Deletion - Frameshift Pleura COSM340836 PRDM12 c.608G>T p.G203V Substitution - Missense Lung COSM396851 RAG2 c.1415G>A p.G472E Substitution - Missense Skin COSM402389 MECOM c.789G>T p.M263I Substitution - Missense Lung COSM403379 DPF1 c.913C>T p.Q305* Substitution - Nonsense Lung COSM430522 HNF1A c.79A>C p.I27L Substitution - Missense Liver COSM446043 FXR1 c.786C>A p.F262L Substitution - Missense Breast COSM461622 HDAC9 c.1096C>T p.P366S Substitution - Missense Cervix COSM584256 BAP1 c.253C>T p.Q85* Substitution - Nonsense Oesophagus COSM915017 TDRD1 c.1656C>T p.F552F Substitution - coding silent Endometrium COSM939512 ARID2 c.4198G>T p.D1400Y Substitution - Missense Endometrium COSM972465 CTCF c.52delA p.G19fs*43 Deletion - Frameshift Endometrium COSM919465 JMJD1C c.4890T>C p.C1630C Substitution - coding silent Endometrium COSM697913 BAZ1A c.506C>G p.S169* Substitution - Nonsense Lung COSM702073 CHD2 c.637G>A p.D213N Substitution - Missense Lung COSM707530 BPTF c.5594G>T p.S1865I Substitution - Missense Lung COSM722980 KDM3A c.1122G>A p.Q374Q Substitution - coding silent Lung COSM896901 ASH1L c.8804-1G>T p.? Unknown Endometrium COSM1067085 PRDM9 c.1413G>T p.E471D Substitution - Missense Endometrium COSM969209 JMJD5 c.722C>T p.S241L Substitution - Missense Endometrium COSM969261 GTF3C1 c.2131C>T p.R711C Substitution - Missense Endometrium COSM970558 CREBBP c.4996G>A p.A1666T Substitution - Missense Endometrium COSM970037 SETD1A c.919G>T p.D307Y Substitution - Missense Endometrium COSM1228408 TAF1 c.365G>A p.R122Q Substitution - Missense Large_intestine COSM1209421 HDAC9 c.1226G>A p.R409Q Substitution - Missense Large_intestine COSM1162342 PHC1 c.918A>G p.R306R Substitution - coding silent Upper_aerodigestive_tract COSM1200944 CHD1 c.4241T>A p.F1414Y Substitution - Missense Large_intestine COSM1208371 GLYR1 c.1297G>A p.A433T Substitution - Missense Large_intestine COSM1205623 ERCC6 c.2008C>T p.R670W Substitution - Missense Large_intestine COSM1262941 PRDM12 c.258G>A p.A86A Substitution - coding silent Stomach COSM1266230 SMARCA4 c.1813-2A>G p.? Unknown Oesophagus COSM1606141 ARID2 c.3817C>T p.R1273* Substitution - Nonsense Upper_aerodigestive_tract COSM1283537 ATAD2B_ENST00000238789 c.4239C>T p.N1413N Substitution - coding silent Autonomic_ganglia COSM1390274 SMARCA4 c.3481C>T p.L1161F Substitution - Missense Large_intestine COSM1381123 NCOR1 c.5366C>A p.P1789Q Substitution - Missense Large_intestine COSM1361706 ARID2 c.5348C>A p.S1783* Substitution - Nonsense Large_intestine COSM1615724 ADNP c.809T>A p.L270Q Substitution - Missense Liver COSM1618461 PRMT10 c.2033C>G p.A678G Substitution - Missense Liver COSM1627025 PHC2 c.193C>T p.H65Y Substitution - Missense Liver COSM1578837 DIDO1 c.4066G>T p.A1356S Substitution - Missense Meninges COSM1667479 SCMH1 c.166C>T p.R56W Substitution - Missense Large_intestine COSM1640881 CHD3 c.811C>T p.R271W Substitution - Missense Prostate COSM1668513 LBR c.1130G>A p.R377Q Substitution - Missense Stomach COSM1713331 DNMT3B c.1228C>T p.R410* Substitution - Nonsense Skin COSM1716424 CTCF c.1554C>T p.T518T Substitution - coding silent Endometrium COSM1664722 TRRAP c.10020T>G p.N3340K Substitution - Missense Kidney COSM1756909 CHD2 c.2338C>T p.Q780* Substitution - Nonsense Urinary_tract COSM1732135 PBRM1 c.3292G>T p.A1098S Substitution - Missense Kidney COSM2068727 HDAC7 c.2304delC p.M769fs*12 Deletion - Frameshift Large_intestine COSM2140814 CHD2 c.202A>C p.S68R Substitution - Missense Large_intestine COSM2866756 TRRAP c.7664C>T p.T2555M Substitution - Missense Large_intestine COSM3087139 BAZ1B c.2879A>C p.N960T Substitution - Missense Large_intestine COSM3160249 PHF3 c.1359_1364delTATAGA p.I454_E455delIE Deletion - In frame Large_intestine COSM3154266 PRDM1 c.226C>T p.R76C Substitution - Missense Large_intestine COSM3171702 NCOA7 c.2266A>G p.K756E Substitution - Missense Large_intestine COSM3237309 KDM3B c.2070A>G p.K690K Substitution - coding silent Large_intestine COSM3304590 KMT2C c.1082C>T p.T361I Substitution - Missense Breast COSM3296126 MBD5 c.1276G>A p.V426I Substitution - Missense Upper_aerodigestive_tract COSM3434296 TDRD1 c.1752C>T p.I584I Substitution - coding silent Skin COSM3438388 ERCC6 c.1828C>T p.L610L Substitution - coding silent Skin COSM3460980 ARID2 c.4425C>T p.T1475T Substitution - coding silent Skin COSM3472830 PRDM2 c.3709C>T p.P1237S Substitution - Missense Skin COSM3631926 PHF14 c.1785G>A p.V595V Substitution - coding silent Skin COSM3615220 PRDM9 c.1813G>A p.E605K Substitution - Missense Skin COSM3615230 PRDM9 c.2661C>T p.P887P Substitution - coding silent Skin COSM3563109 ZMYM3 c.2052G>T p.Q684H Substitution - Missense Skin COSM3567441 MBD5 c.1385C>T p.S462L Substitution - Missense Skin COSM3662941 TIF1 c.1777-2A>T p.? Unknown Liver COSM3656507 SMARCA2 c.2691C>T p.F897F Substitution - coding silent Skin COSM3688230 KMT2D c.9996A>G p.Q3332Q Substitution - coding silent Large_intestine COSM3681279 AIRE c.681C>A p.G227G Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3722639 MUM1 c.1118G>A p.C373Y Substitution - Missense Upper_aerodigestive_tract COSM3709875 JMJD1C c.4987+1G>T p.? Unknown Upper_aerodigestive_tract COSM3768589 TRRAP c.2642G>A p.R881H Substitution - Missense Liver COSM3776665 NIPBL c.57C>T p.L19L Substitution - coding silent Urinary_tract COSM3814475 CHD8 c.4514G>T p.W1505L Substitution - Missense Breast COSM3811570 ATF7IP c.568A>C p.T190P Substitution - Missense Breast COSM3893061 PRMT1 c.567C>T p.I189I Substitution - coding silent Skin COSM3946220 ING2 c.749A>G p.K250R Substitution - Missense Lung COSM3962513 SP100 c.153C>G p.D51E Substitution - Missense Lung COSM3979855 TDRD10 c.504-2A>C p.? Unknown Ovary COSM4022879 PYGO2 c.495A>G p.Q165Q Substitution - coding silent Stomach COSM4049865 CHD8 c.1417C>T p.R473C Substitution - Missense Skin COSM3988789 NCOR1 c.4518A>C p.T1506T Substitution - coding silent Kidney COSM3989517 SMCHD1 c.56A>C p.D19A Substitution - Missense Kidney COSM3985684 JMJD1C c.2232T>C p.F744F Substitution - coding silent Kidney COSM4100190 DIDO1 c.3785C>T p.P1262L Substitution - Missense Stomach COSM4060206 SRCAP c.5851T>C p.Y1951H Substitution - Missense Stomach COSM4072234 SETBP1 c.1880G>A p.R627H Substitution - Missense Stomach COSM4072972 L3MBTL4 c.854C>T p.A285V Substitution - Missense Stomach COSM4157076 KDM5D c.3939C>A p.V1313V Substitution - coding silent Thyroid COSM4161255 TDRD6 c.599T>G p.V200G Substitution - Missense Upper_aerodigestive_tract COSM4385429 ATRX c.1273A>C p.K425Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4527139 GTF3C1 c.1443G>A p.E481E Substitution - coding silent Skin COSM4580569 DNMT1 c.3663C>T p.C1221C Substitution - coding silent Bone COSM4448288 BAHCC1 c.4367_4368GG>AA p.R1456K Substitution - Missense Skin COSM4449907 KIAA2026_ENST00000399933 c.3765delT p.F1255fs*15 Deletion - Frameshift Skin COSM4666088 BRD3 c.1768delG p.E590fs*6 Deletion - Frameshift Large_intestine COSM4765977 KMT2C c.8391_8392insA p.E2798fs*11 Insertion - Frameshift Large_intestine COSM4767594 MYST3 c.3839C>A p.S1280* Substitution - Nonsense Biliary_tract COSM4680498 EHMT1 c.2966G>A p.R989H Substitution - Missense Large_intestine COSM4763722 ACTL6A c.1189G>A p.G397S Substitution - Missense Stomach COSM4640152 SMCHD1 c.1881C>T p.Y627Y Substitution - coding silent Large_intestine COSM4801850 SMARCC2 c.2518G>A p.E840K Substitution - Missense Liver COSM4787711 SETD5_ENST00000402198 c.3905C>A p.P1302H Substitution - Missense Liver COSM4890085 BRD1 c.1335G>T p.P445P Substitution - coding silent Upper_aerodigestive_tract COSM4839691 GTF3C4 c.951T>C p.F317F Substitution - coding silent Cervix COSM4949883 KMT2D c.13265+1G>T p.? Unknown Liver COSM4957813 HCFC1 c.5341A>T p.S1781C Substitution - Missense Liver COSM4968831 EHMT1 c.2062A>G p.T688A Substitution - Missense Central_nervous_system COSM4990212 HNF1A c.1229G>A p.G410E Substitution - Missense Skin COSM5002631 ACTB c.872A>C p.K291T Substitution - Missense Pancreas COSM4970242 ATRX c.1352_1353insT p.L452fs*12 Insertion - Frameshift Central_nervous_system COSM5020056 KMT2C c.127G>T p.D43Y Substitution - Missense Soft_tissue COSM5053407 PRDM16 c.976C>T p.R326C Substitution - Missense Stomach COSM5043095 TAF1L c.2604C>A p.C868* Substitution - Nonsense Liver COSM5039122 ATF2 c.681G>T p.M227I Substitution - Missense Liver COSM5347134 ARID1A c.5058G>A p.W1686* Substitution - Nonsense Endometrium COSM5400538 SMARCA5 c.469G>A p.E157K Substitution - Missense Skin COSM5374392 HNF1A c.288G>A p.E96E Substitution - coding silent Skin COSM5480496 JARID2 c.1508C>T p.T503M Substitution - Missense Large_intestine COSM5480868 PRDM11 c.363C>T p.C121C Substitution - coding silent Large_intestine COSM5484218 DNMT1 c.533G>A p.R178Q Substitution - Missense Large_intestine COSM5435599 SFMBT2 c.1241T>G p.L414R Substitution - Missense Oesophagus COSM5428058 PHF14 c.2817C>T p.L939L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5735224 PRDM16 c.1598C>T p.S533L Substitution - Missense Small_intestine COSM5739392 RSF1 c.268T>C p.Y90H Substitution - Missense Small_intestine COSM5749236 ACTB c.217C>G p.H73D Substitution - Missense Genital_tract COSM5556950 SP140_ENST00000392045 c.523A>T p.I175L Substitution - Missense Prostate COSM5945961 BAP1 c.631_636delATGGAG p.M211_E212del Deletion - In frame Eye COSM5913720 TP53BP1 c.1259C>T p.P420L Substitution - Missense Skin COSM5958571 PHRF1 c.3407A>G p.H1136R Substitution - Missense Thyroid COSM5987754 KMT2C c.591-1G>T p.? Unknown Salivary_gland COSM5996984 DAXX c.1466-3C>A p.? Unknown Prostate COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM166348 DNMT3A c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM4167283 TET2 c.? p.P1885R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144551 DNMT3A c.? p.R635W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43413 TET2 c.?_?ins? p.?fs Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM52890 PBRM1 c.1638_1639insT p.M547fs*3 Insertion - Frameshift Kidney COSM3053498 SMEK2 c.419A>G p.N140S Substitution - Missense Upper_aerodigestive_tract COSM41599 ASXL1 c.? p.C687* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3441500 BTAF1 c.1744C>T p.L582F Substitution - Missense Skin COSM1101398 PRDM14 c.622G>A p.G208R Substitution - Missense Endometrium COSM4154987 PHF8 c.104T>A p.V35D Substitution - Missense Kidney COSM305524 MBD5 c.863C>G p.S288C Substitution - Missense Central_nervous_system COSM85241 ZBTB33 c.954T>C p.S318S Substitution - coding silent Pancreas COSM2080116 ZMYM1 c.1807C>T p.R603* Substitution - Nonsense Cervix COSM443634 ASXL1 c.1534C>T p.Q512* Substitution - Nonsense Urinary_tract COSM5801917 BAZ2A c.1760_1762delAAG p.E587delE Deletion - In frame Breast COSM478003 ASXL1 c.2989G>T p.E997* Substitution - Nonsense Kidney COSM473824 SETBP1 c.68C>G p.S23C Substitution - Missense Kidney COSM1267588 TDRD6 c.841G>A p.E281K Substitution - Missense Stomach COSM1583062 DNMT3A c.1430_1433delAGCG p.E477fs*173 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5893923 KDM6B c.2579C>T p.S860F Substitution - Missense Skin COSM5627967 KDM5C c.2150C>G p.S717* Substitution - Nonsense Oesophagus COSM315157 SHPRH c.1373G>T p.G458V Substitution - Missense Soft_tissue COSM5953959 SETBP1 c.4406G>C p.R1469T Substitution - Missense Upper_aerodigestive_tract COSM388043 BRWD3 c.1646A>G p.E549G Substitution - Missense Lung COSM166291 TET2 c.5681C>T p.P1894L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3657766 KDM4C c.2374G>A p.E792K Substitution - Missense Skin COSM3604084 GABRG1 c.1173G>A p.M391I Substitution - Missense Skin COSM5388044 ASXL3 c.1535C>T p.S512F Substitution - Missense Skin COSM5591419 JARID2 c.1544G>A p.G515D Substitution - Missense Skin COSM4607390 TDRD6 c.284G>A p.R95H Substitution - Missense Adrenal_gland COSM4798149 ASH1L c.4969G>A p.V1657I Substitution - Missense Liver COSM1057 SMARCB1 c.1148delC p.P383fs*>3 Deletion - Frameshift Central_nervous_system COSM1041035 PHC3 c.2585G>A p.R862H Substitution - Missense Endometrium COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM1087666 KMT2C c.592G>T p.E198* Substitution - Nonsense Large_intestine COSM1106558 BRD3 c.885C>T p.D295D Substitution - coding silent Endometrium COSM162686 MUM1 c.804C>T p.N268N Substitution - coding silent Breast COSM1122205 HDAC6 c.3049G>A p.E1017K Substitution - Missense Endometrium COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM4413592 YY1 c.1106A>G p.N369S Substitution - Missense Genital_tract COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM5922658 TIF1 c.1669C>T p.P557S Substitution - Missense Skin COSM5440630 DPF1 c.555C>T p.T185T Substitution - coding silent Oesophagus COSM41294 IDH1 c.? p.R132C Substitution - Missense Bone COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5360126 ZMYND11 c.943C>T p.R315C Substitution - Missense Large_intestine COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Bone COSM5042287 NCOA6 c.4927G>A p.G1643R Substitution - Missense Liver COSM4587277 KMT2C c.1017G>C p.K339N Substitution - Missense Upper_aerodigestive_tract COSM4114057 ZBTB38 c.2749C>T p.R917C Substitution - Missense Stomach COSM3925545 EYA1 c.812C>G p.T271R Substitution - Missense Skin COSM41730 TET2 c.3953A>G p.E1318G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4517211 ARID4A c.2989_2990CC>TT p.P997F Substitution - Missense Skin COSM5944291 TET2 c.4272delT p.D1425fs*23 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5707675 EP300 c.1951A>T p.R651* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM51218 ARID1A c.4001_4002insGCA p.Q1334_R1335insQ Insertion - In frame Prostate COSM4092822 ATAD2B_ENST00000238789 c.895C>T p.P299S Substitution - Missense Skin COSM4787742 CHD7 c.1591C>A p.H531N Substitution - Missense Liver COSM53019 EZH2 c.1967C>T p.A656V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4186980 NCOA3 c.627A>T p.E209D Substitution - Missense Kidney COSM4627584 SMCHD1 c.3859A>G p.N1287D Substitution - Missense Large_intestine COSM5348216 ARID2 c.4533delA p.E1511fs*5 Deletion - Frameshift Liver COSM5989982 TET2 c.5606G>T p.G1869V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM954582 PRMT5 c.260C>A p.S87Y Substitution - Missense Endometrium COSM3761723 HDGFL1 c.260C>T p.T87M Substitution - Missense Thyroid COSM5000084 MYST1 c.452A>G p.H151R Substitution - Missense Pancreas COSM2931057 DIDO1 c.6319G>T p.G2107C Substitution - Missense Lung COSM4162024 KMT2C c.946A>T p.T316S Substitution - Missense Upper_aerodigestive_tract COSM969248 GTF3C1 c.4869C>T p.D1623D Substitution - coding silent Stomach COSM3685963 RERE c.3568_3573delAAGGAG p.K1190_E1191delKE Deletion - In frame Large_intestine COSM5583969 PRDM15 c.838C>T p.L280L Substitution - coding silent Skin COSM1716775 TET2 c.? p.A1512fs*59 Frameshift Haematopoietic_and_lymphoid_tissue COSM2747810 DOT1L c.4972delC p.T1660fs*>79 Deletion - Frameshift Prostate COSM1204298 DNMT3A c.1138G>A p.A380T Substitution - Missense Large_intestine COSM3432895 SET c.509C>T p.S170L Substitution - Missense Large_intestine COSM3967791 SUV420H1 c.632A>G p.K211R Substitution - Missense Central_nervous_system COSM1236233 CBX1 c.309G>T p.K103N Substitution - Missense Cervix COSM3414883 TRDMT1 c.331A>C p.K111Q Substitution - Missense Large_intestine COSM300510 ZMYM1 c.1755delT p.L587fs*1 Deletion - Frameshift Large_intestine COSM4131323 BRD4 c.966G>A p.R322R Substitution - coding silent Thyroid COSM117177 ZBTB4 c.2717G>A p.R906Q Substitution - Missense Ovary COSM234593 DAXX c.292C>T p.L98L Substitution - coding silent Skin COSM5921265 SMYD4 c.412C>T p.P138S Substitution - Missense Skin COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM463027 GATAD2B c.1309G>T p.G437C Substitution - Missense Kidney COSM4403583 ZMYND8 c.2337A>C p.E779D Substitution - Missense Skin COSM4663696 ASH1L c.8410T>A p.Y2804N Substitution - Missense Large_intestine COSM5663682 NCOR1 c.2818A>G p.M940V Substitution - Missense Soft_tissue COSM5012415 KDM4D c.1144G>C p.A382P Substitution - Missense Kidney COSM1167927 ARID2 c.3493C>T p.Q1165* Substitution - Nonsense Skin COSM1176902 BAZ1B c.1556G>A p.R519Q Substitution - Missense Breast COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3841170 NCOA5 c.1359C>T p.P453P Substitution - coding silent Breast COSM3772193 SRCAP c.806C>A p.S269Y Substitution - Missense Pancreas COSM1745202 RAG2 c.724delC p.L242fs*6 Deletion - Frameshift Urinary_tract COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5609408 KMT2A c.6479G>A p.R2160Q Substitution - Missense Skin COSM3097150 ATRX c.1691A>G p.N564S Substitution - Missense Central_nervous_system COSM5753607 KMT2A c.9718C>G p.P3240A Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1601636 SMYD2 c.1143G>A p.V381V Substitution - coding silent Liver COSM4838583 JHDM1D c.2661C>T p.F887F Substitution - coding silent Cervix COSM946189 RNF17 c.617A>T p.K206M Substitution - Missense Endometrium COSM2965359 KDM6A c.1896_1897insA p.N634fs*5 Insertion - Frameshift Large_intestine COSM5630694 KMT2D c.15171_15172insT p.E5058fs*1 Insertion - Frameshift Oesophagus COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM4384873 CREBBP c.868G>A p.A290T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2812068 SETBP1 c.1876C>T p.R626* Substitution - Nonsense Breast COSM5059990 SETD5_ENST00000402198 c.1910A>G p.N637S Substitution - Missense Stomach COSM5557523 ARID2 c.2544A>G p.I848M Substitution - Missense Prostate COSM1554717 TAF1L c.1798C>T p.R600W Substitution - Missense Prostate COSM1221417 POGZ c.3116G>A p.R1039H Substitution - Missense Large_intestine COSM3814509 PRMT5 c.31G>T p.G11W Substitution - Missense Breast COSM1682287 EP300 c.4066C>T p.R1356* Substitution - Nonsense Breast COSM5999172 TDRD1 c.2106A>G p.P702P Substitution - coding silent Prostate COSM5659934 CHD8 c.2707G>T p.E903* Substitution - Nonsense Soft_tissue COSM5490687 ARID2 c.4585G>T p.G1529* Substitution - Nonsense Biliary_tract COSM3531882 LMNB2 c.1327C>T p.H443Y Substitution - Missense Skin COSM4126227 PRDM8 c.507C>A p.P169P Substitution - coding silent Stomach COSM3828974 NCOA7 c.2407C>A p.P803T Substitution - Missense Breast COSM5809857 BTAF1 c.5166A>G p.V1722V Substitution - coding silent Liver COSM1225356 SETD2 c.2456G>A p.R819Q Substitution - Missense Large_intestine COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4003461 NSD1 c.6829T>C p.L2277L Substitution - coding silent Soft_tissue COSM5901671 RNF134 c.656G>A p.R219K Substitution - Missense Skin COSM87161 TET2 c.4138C>T p.H1380Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1454938 PHF20L1 c.815A>G p.K272R Substitution - Missense Large_intestine COSM920210 SFMBT2 c.67G>A p.G23S Substitution - Missense Endometrium COSM1732122 BAP1 c.256-1G>A p.? Unknown Eye COSM87161 TET2 c.4138C>T p.H1380Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4611662 PHF14 c.540delA p.K182fs*19 Deletion - Frameshift Large_intestine COSM4260619 CHD9 c.7941T>A p.A2647A Substitution - coding silent Large_intestine COSM2874582 NCOA2 c.3277C>A p.L1093M Substitution - Missense Large_intestine COSM4959342 TAF1 c.220C>T p.L74L Substitution - coding silent Liver COSM1220356 PHF2 c.1498C>A p.P500T Substitution - Missense Large_intestine COSM2191128 RAD54L c.1673G>A p.R558H Substitution - Missense Large_intestine COSM1368983 CHD8 c.5713delC p.L1905fs*30 Deletion - Frameshift Large_intestine COSM5691937 ASXL3 c.1498C>A p.L500M Substitution - Missense Soft_tissue COSM333883 HDAC7 c.1064G>T p.R355L Substitution - Missense Lung COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM731413 SETD5_ENST00000402198 c.4271A>T p.Q1424L Substitution - Missense Lung COSM5031189 KMT2C c.13631G>A p.R4544Q Substitution - Missense Pancreas COSM4393179 PHIP c.340A>T p.S114C Substitution - Missense Prostate COSM1474736 SFMBT2 c.1321C>T p.H441Y Substitution - Missense Upper_aerodigestive_tract COSM5763413 KDM5A c.3416A>G p.E1139G Substitution - Missense Large_intestine COSM478596 BRWD1 c.1871G>C p.G624A Substitution - Missense Kidney COSM1622431 JHDM1D c.2627T>A p.L876Q Substitution - Missense Liver COSM4060200 SRCAP c.3868A>C p.S1290R Substitution - Missense Stomach COSM4998536 BRDT c.1655T>C p.I552T Substitution - Missense Pancreas COSM1490055 KIAA2026_ENST00000399933 c.4311T>C p.T1437T Substitution - coding silent Breast COSM2177209 TRIM33 c.1932C>T p.S644S Substitution - coding silent Skin COSM4016035 TAF3 c.251T>C p.I84T Substitution - Missense Stomach COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4678885 DNMT1 c.1786C>T p.R596* Substitution - Nonsense Large_intestine COSM4776415 PRDM15 c.258_259insC p.R88fs*46 Insertion - Frameshift Thyroid COSM5567817 ACTL6B c.738C>A p.S246S Substitution - coding silent Prostate COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3722774 NIPBL c.6742A>G p.M2248V Substitution - Missense Upper_aerodigestive_tract COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4007999 SCMH1 c.257C>T p.A86V Substitution - Missense Stomach COSM1327377 AIRE c.1191G>T p.L397L Substitution - coding silent Ovary COSM5019629 SMARCA4 c.1509A>G p.A503A Substitution - coding silent Soft_tissue COSM4977513 PHF19 c.1433C>A p.A478E Substitution - Missense Oesophagus COSM2270837 MGA c.4350G>A p.L1450L Substitution - coding silent Upper_aerodigestive_tract COSM1730483 KMT2C c.8494A>T p.K2832* Substitution - Nonsense Liver COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1349120 KAT6B c.2162C>A p.S721Y Substitution - Missense Large_intestine COSM5438174 PHF21B c.1026C>A p.D342E Substitution - Missense Oesophagus COSM255972 SMYD1 c.998G>A p.R333Q Substitution - Missense Central_nervous_system COSM5752684 DNMT3A c.2524C>T p.Q842* Substitution - Nonsense Breast COSM1169689 TET2 c.? p.D1242fs*11 Frameshift Haematopoietic_and_lymphoid_tissue COSM1179669 KMT2C c.943G>A p.G315S Substitution - Missense Skin COSM3048236 SP110 c.1555C>T p.R519C Substitution - Missense Large_intestine COSM1187690 KDM4C c.1233G>C p.K411N Substitution - Missense Lung COSM3712160 SETD6 c.1309C>T p.Q437* Substitution - Nonsense Upper_aerodigestive_tract COSM1472097 PRDM14 c.335C>T p.P112L Substitution - Missense Urinary_tract COSM5109392 CHD6 c.7656G>A p.A2552A Substitution - coding silent Oesophagus COSM3729594 BAZ1A c.590C>T p.T197I Substitution - Missense Stomach COSM137499 EYA1 c.725G>A p.S242N Substitution - Missense Skin COSM3634193 JHDM1D c.2449C>T p.H817Y Substitution - Missense Skin COSM3657809 KDM4C c.2870A>T p.Y957F Substitution - Missense Skin COSM3415169 JMJD1C c.2414G>A p.R805Q Substitution - Missense Biliary_tract COSM4042356 KMT2D c.11365G>A p.A3789T Substitution - Missense Stomach COSM1678808 CREBBP c.3449C>A p.P1150H Substitution - Missense Large_intestine COSM1716182 EZH2 c.? p.A692V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716182 EZH2 c.? p.A692V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM988845 MBD1 c.64C>T p.R22C Substitution - Missense Endometrium COSM4503434 INO80C c.531C>T p.V177V Substitution - coding silent Skin COSM1672250 JARID2 c.2960C>T p.P987L Substitution - Missense Large_intestine COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Biliary_tract COSM4664638 ATRX c.728G>A p.C243Y Substitution - Missense Large_intestine COSM1314791 KIAA1045 c.779G>A p.R260Q Substitution - Missense Urinary_tract COSM1067731 NIPBL c.7603G>A p.E2535K Substitution - Missense Endometrium COSM745831 KMT2C c.1083T>A p.T361T Substitution - coding silent Lung COSM4018296 KMT2A c.3184T>C p.S1062P Substitution - Missense Stomach COSM3802116 ASH1L c.1985T>C p.I662T Substitution - Missense Breast COSM4680238 EED c.27G>A p.A9A Substitution - coding silent Large_intestine COSM1318632 TET2 c.822delC p.N275fs*18 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1125813 BRWD3 c.4627C>T p.R1543W Substitution - Missense Endometrium COSM5796943 MYST3 c.2277G>T p.K759N Substitution - Missense Breast COSM1400340 BAZ2B c.1902A>C p.E634D Substitution - Missense Large_intestine COSM1439340 CHD1 c.3416A>C p.K1139T Substitution - Missense Large_intestine COSM4116587 KAT2B c.625T>A p.S209T Substitution - Missense Stomach COSM3729944 PHF14 c.2128delA p.E712fs*97 Deletion - Frameshift Stomach COSM221386 RBBP4 c.596A>G p.D199G Substitution - Missense Stomach COSM5882568 MGA c.478C>T p.P160S Substitution - Missense Skin COSM3371749 DIDO1 c.5019G>C p.P1673P Substitution - coding silent Thyroid COSM149088 SP110 c.619G>A p.E207K Substitution - Missense Soft_tissue COSM3777988 MLL5 c.1698G>A p.Q566Q Substitution - coding silent Oesophagus COSM1122180 HDAC6 c.533C>T p.P178L Substitution - Missense Endometrium COSM4892595 JHDM1D c.1092T>G p.A364A Substitution - coding silent Skin COSM1626417 SETDB1 c.3670-8A>T p.? Unknown Liver COSM139379 DNMT3A c.1291C>T p.P431S Substitution - Missense Skin COSM1935808 SMARCC2 c.1205A>G p.N402S Substitution - Missense Large_intestine COSM3291704 CHD6 c.2854G>T p.V952L Substitution - Missense Large_intestine COSM373284 TRRAP c.4434G>T p.V1478V Substitution - coding silent Lung COSM3832360 KMT2C c.5327T>G p.V1776G Substitution - Missense Breast COSM3812054 KDM5A c.791G>A p.R264Q Substitution - Missense Breast COSM919452 JMJD1C c.6119G>A p.R2040K Substitution - Missense Endometrium COSM5006371 ING3 c.890G>A p.R297Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3786754 PHF8 c.1352C>T p.T451M Substitution - Missense Pancreas COSM3061799 TCF20 c.1604G>T p.R535L Substitution - Missense Large_intestine COSM2140850 CHD2 c.1059G>A p.G353G Substitution - coding silent Large_intestine COSM3510236 CHD9 c.6716A>G p.N2239S Substitution - Missense Skin COSM673699 PHF3 c.4057C>T p.R1353* Substitution - Nonsense Endometrium COSM1180774 KDM5A c.3597delA p.G1200fs*9 Deletion - Frameshift Large_intestine COSM1303090 AKAP1 c.331C>T p.L111F Substitution - Missense Urinary_tract COSM4427499 PHF3 c.5114A>G p.E1705G Substitution - Missense Oesophagus COSM4951234 ARID1A c.3254C>G p.S1085* Substitution - Nonsense Liver COSM3974688 PRDM5 c.1517T>G p.V506G Substitution - Missense Central_nervous_system COSM3432438 MYST3 c.932G>A p.R311Q Substitution - Missense Stomach COSM2983343 ZCWPW2 c.1004C>A p.A335D Substitution - Missense Large_intestine COSM3746940 PHC2 c.760C>T p.P254S Substitution - Missense Large_intestine COSM5696726 MSL3 c.1230G>T p.G410G Substitution - coding silent Soft_tissue COSM4763037 LMNA c.188T>C p.I63T Substitution - Missense Stomach COSM5616338 KDM5C c.3319G>A p.D1107N Substitution - Missense Lung COSM5623685 ARID1B c.786C>A p.S262R Substitution - Missense Oesophagus COSM5889050 MYST3 c.5206C>T p.P1736S Substitution - Missense Skin COSM283257 NIPBL c.2500C>T p.R834* Substitution - Nonsense Large_intestine COSM147386 KDM5A c.3747G>A p.L1249L Substitution - coding silent Stomach COSM1739927 KMT2D c.7706C>G p.S2569* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1061232 BRD8 c.3113G>A p.S1038N Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM318943 BRD7 c.258G>T p.K86N Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4741198 WHSC1 c.1214T>G p.L405R Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3176006 PHIP c.1112T>C p.I371T Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM674889 PRDM2 c.1221A>C p.R407R Substitution - coding silent Lung COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5003692 RTF1 c.788G>A p.R263Q Substitution - Missense Pancreas COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5062706 TRRAP c.8978A>G p.Q2993R Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5444790 TRDMT1 c.36C>A p.G12G Substitution - coding silent Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM907693 ARID1A c.2014G>T p.E672* Substitution - Nonsense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM150037 CDYL c.25T>C p.S9P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3619175 PRDM1 c.646G>A p.E216K Substitution - Missense Skin COSM3629181 PHF3 c.4202C>T p.S1401F Substitution - Missense Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Bone COSM4801877 ACTL6A c.775A>G p.I259V Substitution - Missense Liver COSM3514558 NCOR1 c.4072G>C p.D1358H Substitution - Missense Skin COSM936028 KDM2B c.2857T>C p.F953L Substitution - Missense Endometrium COSM4765836 NCOA2 c.3941_3942insA p.F1315fs*72 Insertion - Frameshift Stomach COSM3562436 PHF8 c.1739G>C p.R580T Substitution - Missense Skin COSM1460300 SET c.234delC p.P79fs*5 Deletion - Frameshift Large_intestine COSM1732978 ING3 c.677C>A p.T226N Substitution - Missense Pancreas COSM5620363 BRPF3 c.1486A>G p.K496E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4070395 CHD3 c.5268C>T p.G1756G Substitution - coding silent Stomach COSM4543283 SRCAP c.3350G>A p.S1117N Substitution - Missense Skin COSM470570 BAHD1 c.2200A>C p.K734Q Substitution - Missense Kidney COSM4970314 CHD6 c.7132-7A>G p.? Unknown Central_nervous_system COSM5384768 SETD1A c.2929-1G>A p.? Unknown Skin COSM4156324 EP300 c.1421C>A p.P474H Substitution - Missense Thyroid COSM1930656 SMYD2 c.114C>G p.A38A Substitution - coding silent Large_intestine COSM5019110 MECOM c.2472G>A p.S824S Substitution - coding silent Soft_tissue COSM5901963 SRCAP c.6925-7C>T p.? Unknown Skin COSM5464104 MBTD1 c.1058T>G p.I353S Substitution - Missense Large_intestine COSM1041034 PHC3 c.2591G>A p.R864H Substitution - Missense Endometrium COSM1645016 SP100 c.1010T>C p.V337A Substitution - Missense Salivary_gland COSM1425792 BRPF1 c.1174C>T p.R392W Substitution - Missense Large_intestine COSM1671449 ING2 c.457C>A p.R153S Substitution - Missense Large_intestine COSM5573890 KDM2B c.1624_1625insC p.K542fs*76 Insertion - Frameshift Prostate COSM5946752 PHF8 c.1133T>G p.I378S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM920530 KAT6B c.3139C>T p.H1047Y Substitution - Missense Endometrium COSM3625712 DAXX c.463C>T p.P155S Substitution - Missense Skin COSM5457803 RBBP5 c.219-1G>C p.? Unknown Large_intestine COSM5761830 INOC1 c.3335G>A p.R1112Q Substitution - Missense Pancreas COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM654 TAF1L c.3403C>T p.Q1135* Substitution - Nonsense Breast COSM34039 IDH2 c.514A>T p.R172W Substitution - Missense Biliary_tract COSM21741 SMARCA4 c.3699G>A p.M1233I Substitution - Missense Skin COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM36205 ASXL1 c.3306G>T p.E1102D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85095 KMT2C c.6070G>C p.D2024H Substitution - Missense Pancreas COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Pancreas COSM107639 SMEK2 c.793C>T p.Q265* Substitution - Nonsense Skin COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Stomach COSM225883 KMT2C c.2968A>G p.S990G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM224037 CHD6 c.928G>A p.E310K Substitution - Missense Skin COSM245787 MTA2 c.406G>A p.V136M Substitution - Missense Prostate COSM254816 KMT2C c.5287C>T p.Q1763* Substitution - Nonsense Urinary_tract COSM266223 CDYL2 c.1178G>C p.C393S Substitution - Missense Large_intestine COSM280913 EZH2 c.507A>C p.E169D Substitution - Missense Large_intestine COSM276886 PRDM5 c.592G>T p.E198* Substitution - Nonsense Pancreas COSM288431 DNMT1 c.4097C>T p.T1366M Substitution - Missense Large_intestine COSM323724 TAF1L c.3736A>G p.I1246V Substitution - Missense Lung COSM332892 ATAD2B_ENST00000238789 c.751C>T p.H251Y Substitution - Missense Lung COSM417668 DOT1L c.1129G>T p.E377* Substitution - Nonsense Urinary_tract COSM1031234 DNMT3L c.726C>T p.Y242Y Substitution - coding silent Pancreas COSM699111 SMEK1 c.383C>T p.P128L Substitution - Missense Lung COSM703226 SETD1A c.3927G>C p.T1309T Substitution - coding silent Lung COSM1692710 SETD2 c.1690C>T p.Q564* Substitution - Nonsense Skin COSM907728 ARID1A c.4538_4548delGCACGGGCTCT p.T1514fs*14 Deletion - Frameshift Endometrium COSM900308 TDRD5 c.2477G>T p.R826M Substitution - Missense Endometrium COSM928931 GLYATL1 c.842G>A p.R281Q Substitution - Missense Endometrium COSM893294 PRMT6 c.787C>T p.L263F Substitution - Missense Endometrium COSM948233 TDRD3 c.1095A>G p.S365S Substitution - coding silent Endometrium COSM895023 PRDM2 c.4241C>T p.S1414L Substitution - Missense Endometrium COSM990728 CARM1 c.1203C>T p.T401T Substitution - coding silent Endometrium COSM1088185 HDAC9 c.2057G>A p.R686Q Substitution - Missense Endometrium COSM1087603 KMT2C c.5195A>G p.D1732G Substitution - Missense Endometrium COSM1181004 NIPBL c.8320delA p.I2776fs*3 Deletion - Frameshift Large_intestine COSM1221905 PRDM9 c.696G>T p.K232N Substitution - Missense Large_intestine COSM1216858 NCOA3 c.107G>A p.R36Q Substitution - Missense Large_intestine COSM1216869 NCOR1 c.4373T>C p.V1458A Substitution - Missense Large_intestine COSM1190236 ASXL1 c.2920T>C p.Y974H Substitution - Missense Lung COSM1192971 KDM2A c.729delG p.Y244fs*50 Deletion - Frameshift Lung COSM1577236 MEN1 c.1357C>T p.Q453* Substitution - Nonsense Parathyroid COSM1302425 NCOR1 c.3068G>C p.R1023P Substitution - Missense Urinary_tract COSM1296230 ARID1A c.6564G>T p.Q2188H Substitution - Missense Urinary_tract COSM1324564 CXXC1 c.1457G>T p.C486F Substitution - Missense Ovary COSM1390291 SMARCA4 c.4887T>C p.D1629D Substitution - coding silent Soft_tissue COSM1388997 CXXC1 c.785C>T p.A262V Substitution - Missense Large_intestine COSM1399839 MBD5 c.317T>G p.I106S Substitution - Missense Large_intestine COSM1429102 WHSC1 c.2676-1G>T p.? Unknown Large_intestine COSM1344515 RERE c.3588A>G p.R1196R Substitution - coding silent Stomach COSM1344941 MTF2 c.798-1G>A p.? Unknown Large_intestine COSM1344944 MTF2 c.1620T>C p.D540D Substitution - coding silent Large_intestine COSM1521597 AKAP1 c.2503G>A p.D835N Substitution - Missense Large_intestine COSM1567500 KDM3B c.1664delA p.D555fs*10 Deletion - Frameshift Large_intestine COSM1612840 SUV420H2 c.133C>A p.Q45K Substitution - Missense Liver COSM1615522 PHF20 c.2544C>T p.Y848Y Substitution - coding silent Liver COSM1678193 SMEK1 c.929T>G p.F310C Substitution - Missense Large_intestine COSM1679604 NCOR1 c.1911A>C p.K637N Substitution - Missense Large_intestine COSM1677665 SETDB2 c.1621A>G p.S541G Substitution - Missense Large_intestine COSM1710453 MYST2 c.1397C>T p.S466L Substitution - Missense Skin COSM1738189 DNMT3A c.1157_1163delTGTGCCA p.V386fs*19 Deletion - Frameshift Adrenal_gland COSM1752710 SMYD1 c.153G>A p.V51V Substitution - coding silent Urinary_tract COSM1735131 UHRF2 c.178G>T p.D60Y Substitution - Missense Pancreas COSM1965093 KAT6B c.1365T>A p.I455I Substitution - coding silent Upper_aerodigestive_tract COSM1994681 AICDA c.186C>T p.L62L Substitution - coding silent Skin COSM2740269 RAI1 c.5308C>T p.R1770C Substitution - Missense Large_intestine COSM2741620 ZBTB4 c.1861A>C p.T621P Substitution - Missense Large_intestine COSM2828729 SETD5_ENST00000402198 c.219T>C p.P73P Substitution - coding silent Upper_aerodigestive_tract COSM2828730 SETD5_ENST00000402198 c.261A>G p.E87E Substitution - coding silent Upper_aerodigestive_tract COSM3087164 BAZ1B c.1378A>G p.T460A Substitution - Missense Large_intestine COSM3212696 GTF3C4 c.470C>T p.A157V Substitution - Missense Large_intestine COSM3209047 HDAC3 c.571T>C p.S191P Substitution - Missense Large_intestine COSM3203681 MECOM c.900T>C p.S300S Substitution - coding silent Upper_aerodigestive_tract COSM3266921 ACTB c.79C>T p.P27S Substitution - Missense Upper_aerodigestive_tract COSM3253701 BAG6 c.1590G>A p.S530S Substitution - coding silent Large_intestine COSM3384159 EP400 c.3883C>T p.R1295* Substitution - Nonsense Pancreas COSM3413597 TAF1L c.400T>C p.Y134H Substitution - Missense Central_nervous_system COSM3479291 TDRD5 c.1115C>T p.P372L Substitution - Missense Skin COSM3418025 SETDB1 c.2410C>T p.R804W Substitution - Missense Large_intestine COSM3424957 ATRX c.4994G>T p.R1665I Substitution - Missense Large_intestine COSM3640348 BAZ1B c.1537C>T p.R513C Substitution - Missense Skin COSM3584442 KDM5D c.4432C>T p.R1478* Substitution - Nonsense Skin COSM3562297 KDM5C c.692C>T p.P231L Substitution - Missense Skin COSM3524757 SMCHD1 c.2861G>A p.R954H Substitution - Missense Skin COSM3698218 JHDM1D c.2042C>T p.S681F Substitution - Missense Large_intestine COSM3740453 TCF20 c.3709C>T p.L1237L Substitution - coding silent Liver COSM3751150 PHC2 c.1524G>A p.T508T Substitution - coding silent Large_intestine COSM3798855 NCOA1 c.271G>A p.D91N Substitution - Missense Urinary_tract COSM3816031 MGA c.5924C>A p.S1975* Substitution - Nonsense Breast COSM3859968 ARID1B c.1958C>T p.A653V Substitution - Missense Stomach COSM3828011 NIPBL c.5328G>A p.Q1776Q Substitution - coding silent Breast COSM3923410 STK31 c.1662C>T p.I554I Substitution - coding silent Skin COSM3911759 DIDO1 c.5543C>T p.P1848L Substitution - Missense Skin COSM3873108 RING1 c.238G>A p.G80R Substitution - Missense Stomach COSM3886948 MGA c.8749C>T p.P2917S Substitution - Missense Skin COSM3980474 PHRF1 c.1913C>A p.T638N Substitution - Missense Ovary COSM4020872 TRIM33 c.1005T>G p.N335K Substitution - Missense Stomach COSM4023063 ASH1L c.2173A>G p.R725G Substitution - Missense Stomach COSM4018302 KMT2A c.4087G>A p.E1363K Substitution - Missense Stomach COSM4049865 CHD8 c.1417C>T p.R473C Substitution - Missense Stomach COSM4085340 MBD5 c.646G>T p.G216C Substitution - Missense Stomach COSM4134944 PRDM15 c.796G>T p.V266L Substitution - Missense Thyroid COSM4129608 NCOR1 c.571G>A p.E191K Substitution - Missense Upper_aerodigestive_tract COSM4137768 HCFC1 c.3584C>A p.P1195Q Substitution - Missense Ovary COSM4219251 PRDM2 c.1450C>T p.P484S Substitution - Missense Oesophagus COSM4221138 POGZ c.1957C>T p.R653W Substitution - Missense Large_intestine COSM4384960 PHF12 c.2686C>T p.R896C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4420935 HDAC3 c.139-10C>A p.? Unknown Prostate COSM4417303 GATAD2A c.1291G>A p.A431T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4567255 ASH1L c.6246_6247CC>TT p.L2083F Substitution - Missense Skin COSM4564387 EYA4 c.1166_1167GG>AA p.G389E Substitution - Missense Skin COSM4586610 EHMT2 c.3629C>T p.T1210I Substitution - Missense Bone COSM4591258 PHF3 c.236G>T p.C79F Substitution - Missense Upper_aerodigestive_tract COSM4448999 KMT2D c.14739_14758del20 p.V4914fs*8 Deletion - Frameshift Skin COSM4472492 ASH1L c.1787C>T p.S596F Substitution - Missense Skin COSM4700964 MBD2 c.798_799insA p.V267fs*10 Insertion - Frameshift Large_intestine COSM4666196 BRPF1 c.2565G>A p.P855P Substitution - coding silent Large_intestine COSM4613019 PYGO1 c.710delC p.P237fs*24 Deletion - Frameshift Large_intestine COSM4799400 DNMT3B c.2162T>C p.I721T Substitution - Missense Liver COSM4817222 KMT2D c.8934C>G p.L2978L Substitution - coding silent Cervix COSM5001365 KDM3B c.4549C>T p.R1517* Substitution - Nonsense Pancreas COSM4984989 HNF1A c.1460G>A p.S487N Substitution - Missense Liver COSM4977166 DPF2 c.72C>T p.C24C Substitution - coding silent Oesophagus COSM5005415 SMARCA1 c.1190G>A p.R397H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5028151 CTCF c.812_814delGCA p.S272delS Deletion - In frame Breast COSM5044361 KDM1A c.1210C>T p.Q404* Substitution - Nonsense Adrenal_gland COSM5404104 PRDM1 c.1055C>T p.S352F Substitution - Missense Skin COSM5413126 ATRX c.2787G>A p.Q929Q Substitution - coding silent Skin COSM5413593 MEN1 c.1409C>T p.P470L Substitution - Missense Prostate COSM5516612 KMT2D c.6861G>A p.P2287P Substitution - coding silent Biliary_tract COSM5504652 ASXL1 c.1239G>T p.R413R Substitution - coding silent Biliary_tract COSM5430498 KMT2D c.4507delC p.Q1503fs*12 Deletion - Frameshift Oesophagus COSM5574750 MGA c.3224_3240del17 p.C1076fs*10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5628673 NIPBL c.3619G>A p.E1207K Substitution - Missense Oesophagus COSM5644743 SET c.5C>T p.S2L Substitution - Missense Oesophagus COSM5753786 KDM2A c.1900G>C p.D634H Substitution - Missense Large_intestine COSM5727013 SUV420H1 c.2632G>A p.D878N Substitution - Missense Skin COSM5723194 AIRE c.1038G>A p.Q346Q Substitution - coding silent Skin COSM5721606 PWWP2B c.1096C>T p.P366S Substitution - Missense Skin COSM5722091 EP400 c.3451G>A p.E1151K Substitution - Missense Skin COSM5611028 TRRAP c.5116C>A p.R1706S Substitution - Missense Skin COSM5769047 BRWD1 c.609+5G>T p.? Unknown Breast COSM5686192 ARID1B c.4002C>T p.P1334P Substitution - coding silent Soft_tissue COSM5714467 PHF3 c.4249C>G p.L1417V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5695894 ZMYM6 c.2727C>G p.A909A Substitution - coding silent Soft_tissue COSM5705569 RERE c.3413A>G p.D1138G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5705861 MGA c.7650_7653delTCTT p.L2551fs*9 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5551436 CHD8 c.3108T>G p.D1036E Substitution - Missense Prostate COSM5572507 WHSC1 c.784T>A p.Y262N Substitution - Missense Prostate COSM5787451 BAZ2B c.749G>A p.G250D Substitution - Missense Breast COSM5879067 EZH2 c.2229_2234delCATCGA p.I744_E745delIE Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM5818329 HDAC9 c.321G>C p.Q107H Substitution - Missense Liver COSM41747 TET2 c.3897G>C p.K1299N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5945071 TET2 c.5615T>G p.L1872R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5927411 EYA4 c.640C>T p.P214S Substitution - Missense Skin COSM5907702 PHF23 c.509C>T p.S170F Substitution - Missense Skin COSM5986221 TBL1XR1 c.1373C>T p.A458V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5982895 ASXL3 c.1924G>C p.E642Q Substitution - Missense Upper_aerodigestive_tract COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM1716577 BAP1 c.38-?_931+?del p.? Unknown Pleura COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4972323 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Central_nervous_system COSM1685368 TET2 c.? p.Q769* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM256008 PHF6 c.1_1098del1098 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM5355202 MECOM c.785C>T p.A262V Substitution - Missense Large_intestine COSM86082 KMT2C c.2418C>G p.S806S Substitution - coding silent Soft_tissue COSM51991 BAP1 c.516C>G p.S172R Substitution - Missense Eye COSM86082 KMT2C c.2418C>G p.S806S Substitution - coding silent Soft_tissue COSM4610746 KMT2C c.2680C>T p.R894W Substitution - Missense Skin COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM1212054 KIAA1045 c.481C>T p.R161C Substitution - Missense Large_intestine COSM3729906 MBD4 c.939delA p.E314fs*4 Deletion - Frameshift Stomach COSM4774332 SETD1A c.3435A>C p.P1145P Substitution - coding silent Stomach COSM4590139 KAT2A c.1586A>C p.H529P Substitution - Missense Upper_aerodigestive_tract COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM5726682 SUV39H1 c.1035C>T p.P345P Substitution - coding silent Skin COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM693902 ARID2 c.3429G>A p.V1143V Substitution - coding silent Lung COSM1679533 KDM6B c.1033G>A p.E345K Substitution - Missense Large_intestine COSM3642759 TRRAP c.2425C>T p.L809L Substitution - coding silent Skin COSM417629 PHF12 c.2670G>A p.Q890Q Substitution - coding silent Urinary_tract COSM3548777 DIDO1 c.5339C>G p.P1780R Substitution - Missense Skin COSM5834428 DNMT3A c.1138delG p.A380fs*27 Deletion - Frameshift Breast COSM5982809 MGA c.4311G>A p.L1437L Substitution - coding silent Upper_aerodigestive_tract COSM1228968 TET2 c.260A>C p.K87T Substitution - Missense Large_intestine COSM4963776 MEN1 c.1050-1G>A p.? Unknown Pancreas COSM2741663 ZBTB4 c.562C>T p.P188S Substitution - Missense Skin COSM1161665 KMT2C c.6434A>G p.Y2145C Substitution - Missense Prostate COSM262037 MLL5 c.2855C>A p.S952Y Substitution - Missense Large_intestine COSM53129 TET2 c.? p.L371* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM6008947 KMT2A c.8602G>A p.E2868K Substitution - Missense Large_intestine COSM5650634 PHF21A c.1418T>C p.L473P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1054417 WHSC1 c.229G>A p.D77N Substitution - Missense Endometrium COSM3920986 ARID1B c.6496C>T p.P2166S Substitution - Missense Skin COSM85818 ATRX c.6235C>T p.R2079* Substitution - Nonsense Pancreas COSM4610887 PRDM10 c.1887delA p.K629fs*101 Deletion - Frameshift Large_intestine COSM4998098 ASH2L c.125C>A p.P42H Substitution - Missense Pancreas COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Biliary_tract COSM1738139 EZH2 c.? p.K718fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM5424295 ZMYM1 c.1147-3A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3266881 ACTB c.923G>A p.G308D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4742917 ZMYM3 c.647C>G p.P216R Substitution - Missense Large_intestine COSM6006264 ARID1A c.3757delA p.N1253fs*16 Deletion - Frameshift Small_intestine COSM3937119 CTCF c.858A>C p.K286N Substitution - Missense Oesophagus COSM5432664 ASH1L c.6735G>T p.M2245I Substitution - Missense Oesophagus COSM256358 ASXL1 c.1062C>A p.F354L Substitution - Missense Large_intestine COSM961505 MGA c.2860delT p.F954fs*40 Deletion - Frameshift Endometrium COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5951077 BAG6 c.172C>T p.R58W Substitution - Missense Oesophagus COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM239760 EZH1 c.1112C>T p.S371F Substitution - Missense Prostate COSM4159839 PRDM9 c.2042C>G p.T681S Substitution - Missense Upper_aerodigestive_tract COSM4834948 MORF4L1 c.856G>A p.A286T Substitution - Missense Cervix COSM5967280 SMARCB1 c.1066_1067delCT p.L356fs*4 Deletion - Frameshift Salivary_gland COSM5041393 CHD2 c.3052C>G p.L1018V Substitution - Missense Liver COSM1245562 ASH1L c.1589C>T p.P530L Substitution - Missense Oesophagus COSM1130660 ASXL1 c.1260C>T p.A420A Substitution - coding silent Prostate COSM1748667 MTF2 c.809C>T p.A270V Substitution - Missense Urinary_tract COSM4901737 EYA4 c.1717A>T p.I573F Substitution - Missense Skin COSM4072475 CXXC1 c.786G>A p.A262A Substitution - coding silent Stomach COSM1479270 NCOR1 c.3016+2T>C p.? Unknown Breast COSM1334326 GATAD2B c.602C>A p.P201Q Substitution - Missense Large_intestine COSM4486986 SMARCC1 c.3128C>T p.P1043L Substitution - Missense Skin COSM1745448 CBX4 c.656_657insGGG p.G219_A220insG Insertion - In frame Urinary_tract COSM5617019 NCOA6 c.4734A>G p.V1578V Substitution - coding silent Lung COSM5990300 PRDM12 c.682+7G>C p.? Unknown Liver COSM5485798 FTO c.1437T>G p.D479E Substitution - Missense Large_intestine COSM1754516 EYA4 c.508T>C p.S170P Substitution - Missense Urinary_tract COSM221050 KMT2D c.7276C>T p.Q2426* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4647044 TAF1L c.3163C>A p.Q1055K Substitution - Missense Large_intestine COSM4754803 KMT2D c.14912T>A p.F4971Y Substitution - Missense Stomach COSM88744 CREBBP c.4507T>C p.Y1503H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4963845 ING2 c.696G>T p.Q232H Substitution - Missense Pancreas COSM1177246 CHD8 c.2317C>T p.R773* Substitution - Nonsense Endometrium COSM51453 ARID1A c.1570C>T p.Q524* Substitution - Nonsense Ovary COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1301959 CREBBP c.2666C>G p.S889* Substitution - Nonsense Urinary_tract COSM4591233 NCOR1 c.534G>C p.K178N Substitution - Missense Upper_aerodigestive_tract COSM534912 PRDM16 c.921C>T p.R307R Substitution - coding silent Skin COSM3774109 BAP1 c.685A>C p.N229H Substitution - Missense Kidney COSM5056197 SMARCA4 c.761-2A>G p.? Unknown Stomach COSM3599590 PRDM5 c.252C>T p.F84F Substitution - coding silent Skin COSM223379 EHMT1 c.1378G>A p.V460I Substitution - Missense Skin COSM4232590 LBR c.902C>T p.A301V Substitution - Missense Upper_aerodigestive_tract COSM318770 ARID1A c.4397C>T p.A1466V Substitution - Missense Lung COSM2164481 MEN1 c.939T>A p.Y313* Substitution - Nonsense Prostate COSM1254006 HDAC2 c.1273G>C p.E425Q Substitution - Missense Oesophagus COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4974517 KAT6B c.4810C>T p.H1604Y Substitution - Missense Oesophagus COSM468035 EP400 c.3520C>T p.R1174* Substitution - Nonsense Kidney COSM4953184 TAF3 c.2017A>G p.R673G Substitution - Missense Liver COSM1469185 ZMYM3 c.252delG p.L85fs*28 Deletion - Frameshift Prostate COSM4607149 MGA c.7615C>T p.R2539* Substitution - Nonsense Skin COSM85833 MEN1 c.50_53delACGA p.D17fs*101 Deletion - Frameshift Pancreas COSM1461743 SMARCA2 c.3466G>A p.A1156T Substitution - Missense Liver COSM972490 CTCF c.1342C>T p.R448* Substitution - Nonsense Endometrium COSM1483746 ADNP c.1743_1744insTTAC p.H582fs*6 Insertion - Frameshift Breast COSM5500890 RAI1 c.1556G>A p.S519N Substitution - Missense Biliary_tract COSM4850132 SMARCC2 c.3010C>G p.P1004A Substitution - Missense Cervix COSM4516521 EP400 c.18_19CC>TT p.P7S Substitution - Missense Skin COSM1212947 L3MBTL2 c.1248G>T p.K416N Substitution - Missense Large_intestine COSM1319005 EZH2 c.2230_2231insTGCAT p.I744fs*>10 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM477055 SP140_ENST00000392045 c.1377T>A p.C459* Substitution - Nonsense Kidney COSM5735072 ARID2 c.710G>A p.W237* Substitution - Nonsense Pancreas COSM4534810 MECOM c.1557G>A p.M519I Substitution - Missense Skin COSM327115 TET2 c.4759G>A p.D1587N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3547385 NCOA3 c.3854A>C p.N1285T Substitution - Missense Skin COSM1266214 SMARCA2 c.2394T>A p.S798S Substitution - coding silent Oesophagus COSM1124821 ZMYM3 c.443C>A p.S148Y Substitution - Missense Endometrium COSM4956675 SFMBT2 c.2169C>T p.D723D Substitution - coding silent Liver COSM919517 JMJD1C c.445C>T p.R149* Substitution - Nonsense Endometrium COSM24901 HNF1A c.71_82del12 p.I27_L30delIQAL Deletion - In frame Liver COSM4245462 BAZ1A c.420C>A p.L140L Substitution - coding silent Large_intestine COSM96925 TET2 c.4567C>T p.Q1523* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5610612 SMARCA4 c.4377C>T p.T1459T Substitution - coding silent Skin COSM3523585 BAHCC1 c.1877C>T p.P626L Substitution - Missense Stomach COSM385608 BRWD3 c.3809A>T p.D1270V Substitution - Missense Lung COSM4794046 PHF8 c.2247G>A p.G749G Substitution - coding silent Liver COSM51480 ARID1A c.56_57insGCCGCC p.P19_P20insPP Insertion - In frame Ovary COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5700953 SMARCA2 c.2096A>T p.Q699L Substitution - Missense Soft_tissue COSM23037 MEN1 c.? p.R98* Substitution - Nonsense Parathyroid COSM5945587 PHF6 c.487C>T p.R163C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1393477 SIRT2 c.586G>A p.V196I Substitution - Missense Large_intestine COSM415010 ERCC6 c.1228G>A p.G410S Substitution - Missense Urinary_tract COSM1644696 KDM6A c.4005+1G>T p.? Unknown Salivary_gland COSM5643108 YY1 c.21C>G p.L7L Substitution - coding silent Oesophagus COSM307360 ASXL1 c.2757_2758insA p.P920fs*4 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5341583 ASH1L c.6767A>C p.N2256T Substitution - Missense Large_intestine COSM732829 PRDM5 c.1743T>A p.A581A Substitution - coding silent Lung COSM5724125 HDAC7 c.978G>A p.G326G Substitution - coding silent Skin COSM3691808 ZBTB4 c.2185G>A p.G729R Substitution - Missense Pancreas COSM3580211 NCOA1 c.727C>T p.L243L Substitution - coding silent Skin COSM4505447 NCOA1 c.692C>T p.S231L Substitution - Missense Skin COSM4510144 HDAC6 c.828C>T p.H276H Substitution - coding silent Skin COSM97188 ASXL1 c.? p.A752fs*20 Frameshift Haematopoietic_and_lymphoid_tissue COSM1620933 EYA4 c.1502G>A p.G501E Substitution - Missense Liver COSM4169558 ASXL1 c.? p.E914* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4753615 MYST3 c.1138G>T p.E380* Substitution - Nonsense Oesophagus COSM255002 KDM6A c.1007A>G p.D336G Substitution - Missense Urinary_tract COSM3650743 EYA1 c.176G>A p.G59E Substitution - Missense Skin COSM480309 PBRM1 c.4249T>G p.W1417G Substitution - Missense Kidney COSM1421064 ACTL6A c.315T>C p.H105H Substitution - coding silent Large_intestine COSM4418353 SETD4 c.252C>T p.T84T Substitution - coding silent Breast COSM1619761 HDAC3 c.476+10C>A p.? Unknown Liver COSM87253 IKZF1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5617858 PHIP c.4786A>G p.K1596E Substitution - Missense Breast COSM471663 MYST1 c.1038C>T p.V346V Substitution - coding silent Kidney COSM222650 LBR c.1453C>T p.P485S Substitution - Missense Skin COSM4796063 CHD7 c.3399G>A p.T1133T Substitution - coding silent Liver COSM42055 TET2 c.4076G>A p.R1359H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4577202 PRDM16 c.271A>T p.I91F Substitution - Missense Bone COSM4800691 NSD1 c.2891A>G p.N964S Substitution - Missense Liver COSM3708676 PHF8 c.2445C>G p.I815M Substitution - Missense Liver COSM1702348 ERCC6 c.3493_3494AC>TT p.T1165L Substitution - Missense Skin COSM3963951 SETD4 c.902-6A>G p.? Unknown Lung COSM4918313 MECOM c.516G>T p.S172S Substitution - coding silent Liver COSM3431920 TRRAP c.6945G>A p.T2315T Substitution - coding silent Large_intestine COSM4890928 SFMBT1 c.1019A>C p.K340T Substitution - Missense Upper_aerodigestive_tract COSM1109467 KIAA2026_ENST00000399933 c.2437C>A p.R813S Substitution - Missense Endometrium COSM217018 ARID2 c.2134G>T p.E712* Substitution - Nonsense Liver COSM4793763 BAZ1B c.4409C>T p.P1470L Substitution - Missense Liver COSM1675302 SIRT1 c.1220T>C p.M407T Substitution - Missense Large_intestine COSM4439744 KDM4B c.2530C>T p.P844S Substitution - Missense Oesophagus COSM3089752 EHMT1 c.3595C>T p.R1199C Substitution - Missense Stomach COSM965436 MORF4L1 c.161C>T p.A54V Substitution - Missense Endometrium COSM5893977 ASXL3 c.2470C>T p.R824* Substitution - Nonsense Skin COSM391948 CHD7 c.3023_3030delATGAGATA p.Y1008fs*42 Deletion - Frameshift Lung COSM1465246 ZBTB33 c.563_564insTGA p.D194_V195insD Insertion - In frame Upper_aerodigestive_tract COSM5721616 PHRF1 c.2982C>T p.S994S Substitution - coding silent Skin COSM4467607 CBX4 c.1499C>T p.S500L Substitution - Missense Skin COSM4439493 DHX30 c.2841G>A p.E947E Substitution - coding silent Oesophagus COSM3836056 TRIM28 c.523G>A p.E175K Substitution - Missense Breast COSM42016 TET2 c.4393C>T p.R1465* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM485095 KMT2C c.3309T>A p.C1103* Substitution - Nonsense Endometrium COSM335263 HDAC9 c.2566G>T p.G856C Substitution - Missense Lung COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4603246 RNF134 c.84_85insGCCTCC p.P28_V29insAS Insertion - In frame Upper_aerodigestive_tract COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5930124 ATRX c.3983C>T p.S1328F Substitution - Missense Skin COSM4672110 CHD9 c.2787G>A p.T929T Substitution - coding silent Large_intestine COSM4990240 KMT2D c.13357C>T p.P4453S Substitution - Missense Skin COSM5725536 RTF1 c.1611C>T p.H537H Substitution - coding silent Skin COSM4747131 ZMYND8 c.3034delT p.Y1012fs*22 Deletion - Frameshift Stomach COSM5563362 NSD1 c.5552A>G p.Q1851R Substitution - Missense Prostate COSM3900256 MYST3 c.405C>A p.F135L Substitution - Missense Stomach COSM4698238 LMNB2 c.1569delC p.S524fs*31 Deletion - Frameshift Large_intestine COSM3935922 PRMT8 c.365C>T p.T122I Substitution - Missense Oesophagus COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1265381 SFMBT2 c.1661C>T p.S554L Substitution - Missense Oesophagus COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM88025 SMARCA4 c.2729C>T p.T910M Substitution - Missense Central_nervous_system COSM273289 SP110 c.1611C>T p.C537C Substitution - coding silent Stomach COSM254905 PRDM10 c.427G>A p.D143N Substitution - Missense Urinary_tract COSM3500898 BAHD1 c.863C>T p.P288L Substitution - Missense Skin COSM1125853 BRWD3 c.2372G>A p.R791H Substitution - Missense Large_intestine COSM1679817 KAT2A c.511C>T p.R171* Substitution - Nonsense Large_intestine COSM4169301 BAP1 c.? p.? Unknown Pleura COSM731349 BRPF1 c.1329C>T p.Y443Y Substitution - coding silent Lung COSM1155723 ASXL1 c.3306G>C p.E1102D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4700969 MBD2 c.471delC p.G158fs*7 Deletion - Frameshift Soft_tissue COSM4573643 ERCC6 c.1670G>A p.R557H Substitution - Missense Bone COSM4820786 BRWD1 c.5357G>A p.S1786N Substitution - Missense Cervix COSM4968290 HDAC6 c.1459C>G p.Q487E Substitution - Missense Adrenal_gland COSM133126 DNMT3A c.2204A>G p.Y735C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5028125 SRCAP c.4508C>T p.S1503L Substitution - Missense Breast COSM3878477 TRIM24 c.194G>A p.S65N Substitution - Missense Stomach COSM1240863 ASXL1 c.2696T>C p.I899T Substitution - Missense Oesophagus COSM1013372 TET2 c.4070_4071delAG p.E1357fs*43 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM144185 EZH2 c.2226_2227insAAAACC p.V742_G743insKT Insertion - In frame Haematopoietic_and_lymphoid_tissue COSM3663041 KMT2C c.2598G>T p.R866R Substitution - coding silent Liver COSM1192805 NCOA7 c.202delA p.K70fs*7 Deletion - Frameshift Biliary_tract COSM4490676 MBD5 c.3677C>T p.P1226L Substitution - Missense Skin COSM1054442 WHSC1 c.2802G>A p.A934A Substitution - coding silent Kidney COSM43446 TET2 c.2428C>T p.Q810* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5651074 POGZ c.1704G>A p.A568A Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM144496 IDH2 c.? p.R172S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3693859 BRWD1 c.2532A>G p.E844E Substitution - coding silent Large_intestine COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5620198 ACTA1 c.1099G>T p.A367S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4541853 PBRM1 c.3155G>A p.R1052Q Substitution - Missense Skin COSM4580677 MUM1 c.635G>C p.W212S Substitution - Missense Bone COSM3674602 ARID1B c.2095G>T p.G699W Substitution - Missense Prostate COSM4691741 IDH1 c.481G>A p.G161R Substitution - Missense Large_intestine COSM3814471 CHD8 c.5564G>A p.R1855H Substitution - Missense Breast COSM2777627 KIAA2026_ENST00000399933 c.787G>T p.E263* Substitution - Nonsense Large_intestine COSM183186 SMARCB1 c.237C>T p.H79H Substitution - coding silent Endometrium COSM4569171 ACTR5 c.1562T>A p.F521Y Substitution - Missense Skin COSM1745130 GLYATL1 c.636delG p.V213fs*1 Deletion - Frameshift Urinary_tract COSM5018431 MBD3 c.113delC p.P38fs*22 Deletion - Frameshift Soft_tissue COSM3416632 EP400 c.3335G>T p.R1112I Substitution - Missense Large_intestine COSM942097 MBD6 c.2974C>T p.R992C Substitution - Missense Endometrium COSM3719254 APOBEC1 c.135C>A p.G45G Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3777996 MLL5 c.5158C>G p.P1720A Substitution - Missense Urinary_tract COSM4994704 SUZ12 c.1486G>A p.D496N Substitution - Missense Large_intestine COSM4591023 KMT2C c.871C>T p.L291F Substitution - Missense Skin COSM97131 IDH1 c.532G>A p.V178I Substitution - Missense Thymus COSM4674652 CREBBP c.2667_2669delAAC p.T890delT Deletion - In frame Large_intestine COSM4975159 SETD2 c.2752C>G p.L918V Substitution - Missense Oesophagus COSM3984986 PRDM16 c.3095A>G p.H1032R Substitution - Missense Kidney COSM1329394 BRD9 c.645G>T p.R215R Substitution - coding silent Ovary COSM1363337 MBD6 c.3G>A p.M1I Substitution - Missense Large_intestine COSM1304360 LMNB2 c.355G>A p.E119K Substitution - Missense Urinary_tract COSM4838629 EP300 c.4742C>T p.S1581L Substitution - Missense Cervix COSM4385083 ASXL1 c.2047A>G p.T683A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM339753 ASXL1 c.3598C>T p.P1200S Substitution - Missense Lung COSM3735024 SMARCA4 c.2190_2191insG p.Y731fs*10 Insertion - Frameshift Ovary COSM3883752 TRRAP c.7591C>T p.R2531W Substitution - Missense Stomach COSM170344 ASH1L c.6217C>T p.R2073C Substitution - Missense Skin COSM96481 CREBBP c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3296128 MBD5 c.1326C>A p.P442P Substitution - coding silent Upper_aerodigestive_tract COSM1270996 ZMYM6 c.1059C>T p.F353F Substitution - coding silent Oesophagus COSM1210672 ING5 c.292C>T p.R98* Substitution - Nonsense Large_intestine COSM13394 MSH6 c.3261_3262insC p.F1088fs*5 Insertion - Frameshift Large_intestine COSM4747354 CHD7 c.5997_6014del18 p.F2000_K2005delFARLDK Deletion - In frame Stomach COSM1667387 ZMYM1 c.1699C>T p.Q567* Substitution - Nonsense Large_intestine COSM136764 SFMBT2 c.1199G>A p.R400Q Substitution - Missense Endometrium COSM3941303 NIPBL c.4464G>T p.Q1488H Substitution - Missense Oesophagus COSM3622273 ARID1B c.2679C>A p.F893L Substitution - Missense Skin COSM3443991 KMT2A c.7491C>T p.V2497V Substitution - coding silent Skin COSM3781610 ARID1B c.768C>A p.G256G Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3092507 PHF8 c.1498C>A p.L500I Substitution - Missense Upper_aerodigestive_tract COSM4061202 CHD9 c.7901G>A p.R2634Q Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3905436 BRD3 c.89G>A p.S30N Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5608364 EP300 c.4714G>T p.G1572W Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4100201 DIDO1 c.1477G>A p.G493R Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1109476 KIAA2026_ENST00000399933 c.1720C>T p.R574C Substitution - Missense Endometrium COSM5005117 SMARCA4 c.1941G>A p.P647P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5005810 KMT2D c.7638A>G p.Q2546Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM211536 ZMYND8 c.104G>C p.R35T Substitution - Missense Upper_aerodigestive_tract COSM4405669 MBD5 c.2887C>T p.L963L Substitution - coding silent Skin COSM4557546 DAXX c.696G>C p.L232L Substitution - coding silent Skin COSM5911092 ATRX c.3392G>A p.R1131K Substitution - Missense Skin COSM5546648 PHF6 c.716A>G p.H239R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3112914 SRCAP c.3827_3829delCTT p.S1278delS Deletion - In frame Upper_aerodigestive_tract COSM3546364 CHD6 c.4076C>T p.S1359F Substitution - Missense Skin COSM211688 TET2 c.2158C>T p.Q720* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5627800 SRCAP c.9147G>C p.E3049D Substitution - Missense Oesophagus COSM4149223 JARID2 c.2613C>A p.N871K Substitution - Missense Ovary COSM308425 SETD2 c.2388C>T p.Y796Y Substitution - coding silent Kidney COSM3733438 SMC1A c.2400G>T p.Q800H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4796206 ASH1L c.5042G>A p.S1681N Substitution - Missense Liver COSM4590631 GLYR1 c.1377C>G p.H459Q Substitution - Missense Upper_aerodigestive_tract COSM3725951 BAZ2A c.312G>A p.G104G Substitution - coding silent Lung COSM3508905 SRCAP c.5051C>T p.A1684V Substitution - Missense Skin COSM1671034 CLOCK c.1662A>T p.Q554H Substitution - Missense Large_intestine COSM1451977 BAZ1B c.2251G>T p.A751S Substitution - Missense Large_intestine COSM3450226 PHRF1 c.472C>T p.R158* Substitution - Nonsense Skin COSM1601930 KDM1A c.1874A>C p.E625A Substitution - Missense Liver COSM4651123 HCFC2 c.5C>T p.A2V Substitution - Missense Large_intestine COSM700913 PYGO1 c.666T>C p.F222F Substitution - coding silent Lung COSM936113 SETD1B c.2374G>A p.E792K Substitution - Missense Endometrium COSM4042461 KDM5A c.51A>G p.P17P Substitution - coding silent Stomach COSM34039 IDH2 c.514A>T p.R172W Substitution - Missense Central_nervous_system COSM22619 MEN1 c.248_251delTGTC p.I85fs*33 Deletion - Frameshift Pancreas COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Stomach COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM36600 WHSC1 c.2754C>T p.F918F Substitution - coding silent Skin COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM78991 KMT2D c.4507C>T p.Q1503* Substitution - Nonsense Pancreas COSM98118 ARID2 c.2710C>T p.Q904* Substitution - Nonsense Upper_aerodigestive_tract COSM110712 ASXL1 c.2541_2541delC p.T848fs*19 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM96387 ASXL1 c.1915_1941>18 p.T639_P647>PPSDGS Complex - deletion inframe Haematopoietic_and_lymphoid_tissue COSM144541 TET2 c.2024C>A p.S675* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM138405 MECOM c.515C>T p.S172L Substitution - Missense Large_intestine COSM144221 ATRX c.6331C>T p.R2111* Substitution - Nonsense Central_nervous_system COSM170748 PHIP c.2925C>T p.V975V Substitution - coding silent Large_intestine COSM217058 YY1 c.1225A>G p.K409E Substitution - Missense Liver COSM249258 KDM5C c.4270C>T p.Q1424* Substitution - Nonsense Kidney COSM268490 CHD6 c.1981G>A p.D661N Substitution - Missense Large_intestine COSM286073 TTF2 c.616G>A p.A206T Substitution - Missense Biliary_tract COSM298961 MSH6 c.423C>T p.G141G Substitution - coding silent Large_intestine COSM302638 MGA c.8907C>T p.A2969A Substitution - coding silent Central_nervous_system COSM302652 KMT2D c.7751_7752insT p.L2584fs*13 Insertion - Frameshift Central_nervous_system COSM301705 ARID1B c.5587_5588delCT p.S1864fs*8 Deletion - Frameshift Central_nervous_system COSM296466 CHD8 c.7496C>A p.P2499H Substitution - Missense Oesophagus COSM311726 HDAC6 c.2409A>C p.P803P Substitution - coding silent Skin COSM330655 MSH6 c.3254delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM333123 CHD7 c.2451T>C p.S817S Substitution - coding silent Lung COSM362862 RSF1 c.3303T>A p.D1101E Substitution - Missense Lung COSM366507 NIPBL c.7113C>A p.I2371I Substitution - coding silent Lung COSM422793 PBRM1 c.2761C>T p.R921* Substitution - Nonsense Kidney COSM436096 NCOR1 c.1774G>T p.E592* Substitution - Nonsense Breast COSM564791 CARM1 c.605C>T p.A202V Substitution - Missense Central_nervous_system COSM693712 KMT2D c.13900C>T p.R4634* Substitution - Nonsense Oesophagus COSM939275 KDM5A c.2086C>T p.R696W Substitution - Missense Prostate COSM744146 PHF14 c.1520A>G p.K507R Substitution - Missense Lung COSM1602147 ARID1A c.3910G>T p.A1304S Substitution - Missense Liver COSM1000959 TFPT c.423G>T p.E141D Substitution - Missense Endometrium COSM1071750 PRDM1 c.2126T>C p.V709A Substitution - Missense Endometrium COSM1066196 NSD1 c.820A>C p.I274L Substitution - Missense Endometrium COSM1109445 KIAA2026_ENST00000399933 c.4225T>G p.S1409A Substitution - Missense Endometrium COSM1122952 KDM5C c.2138C>T p.T713M Substitution - Missense Endometrium COSM1315834 ASXL1 c.1972G>T p.G658* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1099595 WHSC1L1 c.838A>C p.T280P Substitution - Missense Endometrium COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1205366 EP300 c.1190G>A p.R397Q Substitution - Missense Large_intestine COSM1180942 HDAC11 c.285delC p.V98fs*14 Deletion - Frameshift Large_intestine COSM1204461 DOT1L c.1648A>C p.K550Q Substitution - Missense Large_intestine COSM1227531 SRCAP c.283G>A p.E95K Substitution - Missense Large_intestine COSM1210685 INO80B c.72G>T p.K24N Substitution - Missense Large_intestine COSM1179656 CHD6 c.7486G>A p.V2496M Substitution - Missense Prostate COSM1159753 CREBBP c.4991G>T p.R1664L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1172895 SMYD5 c.743G>A p.R248H Substitution - Missense Oesophagus COSM1319996 POGZ c.455C>G p.T152R Substitution - Missense Ovary COSM1325761 HAT1 c.605T>G p.F202C Substitution - Missense Ovary COSM1334667 ASH1L c.1624A>G p.T542A Substitution - Missense Large_intestine COSM1400337 BAZ2B c.3693C>T p.I1231I Substitution - coding silent Large_intestine COSM1387351 CHD3 c.1612delC p.R540fs*16 Deletion - Frameshift Large_intestine COSM1377033 GTF3C1 c.1547C>G p.T516S Substitution - Missense Large_intestine COSM1412224 EYA2 c.1107C>T p.G369G Substitution - coding silent Large_intestine COSM1444082 BRPF3 c.2555delC p.P854fs*6 Deletion - Frameshift Stomach COSM1564532 LMNB2 c.1480G>A p.A494T Substitution - Missense Large_intestine COSM1486703 PRDM9 c.2126C>G p.T709S Substitution - Missense Thyroid COSM1473867 HDAC1 c.1422-2A>T p.? Unknown Large_intestine COSM1622716 STK31 c.977C>T p.A326V Substitution - Missense Liver COSM1634587 JARID2 c.2275G>T p.G759W Substitution - Missense Liver COSM1716719 ATRX c.5803delA p.K1936fs*19 Deletion - Frameshift Central_nervous_system COSM1662929 MUM1 c.1452G>T p.Q484H Substitution - Missense Kidney COSM1749023 UBR7 c.788C>G p.S263C Substitution - Missense Urinary_tract COSM1734020 ATAD2B_ENST00000238789 c.155G>C p.S52T Substitution - Missense Pancreas COSM2080391 ZMYM4 c.4609G>T p.A1537S Substitution - Missense Large_intestine COSM2206381 PRMT8 c.1049delG p.E352fs*9 Deletion - Frameshift Large_intestine COSM2720153 CHD7 c.7668C>T p.N2556N Substitution - coding silent Large_intestine COSM2917612 MYST1 c.810C>T p.F270F Substitution - coding silent Skin COSM3108916 GTF3C1 c.2392C>T p.P798S Substitution - Missense Skin COSM3132286 WHSC1 c.808G>A p.A270T Substitution - Missense Prostate COSM3236469 HCFC1 c.4418T>C p.V1473A Substitution - Missense Large_intestine COSM3296120 MBD5 c.1171A>G p.M391V Substitution - Missense Upper_aerodigestive_tract COSM3589907 MECOM c.253C>T p.P85S Substitution - Missense Skin COSM3647908 ELP3 c.361G>A p.E121K Substitution - Missense Skin COSM3665844 SFMBT2 c.1790A>G p.E597G Substitution - Missense Liver COSM3727459 BRWD3 c.3209A>G p.Q1070R Substitution - Missense Skin COSM3738709 SFMBT2 c.972+7T>G p.? Unknown Liver COSM3775401 BRPF1 c.544C>A p.R182R Substitution - coding silent Urinary_tract COSM3865677 RAD54L c.960G>A p.R320R Substitution - coding silent Skin COSM3834871 CHD7 c.223T>C p.Y75H Substitution - Missense Breast COSM3974436 SETD2 c.4670C>G p.S1557* Substitution - Nonsense Central_nervous_system COSM4006667 KMT2C c.3340T>C p.C1114R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4046336 ZMYM5 c.760G>A p.G254R Substitution - Missense Stomach COSM4035919 KDM2A c.2981C>T p.A994V Substitution - Missense Stomach COSM3984937 ARID1A c.4523A>G p.Y1508C Substitution - Missense Kidney COSM3986973 KMT2D c.6508G>A p.V2170I Substitution - Missense Kidney COSM4093136 ING5 c.607G>A p.D203N Substitution - Missense Stomach COSM4067326 CBX1 c.149A>G p.N50S Substitution - Missense Stomach COSM4074036 SMARCA4 c.2225T>C p.V742A Substitution - Missense Stomach COSM4138300 BAZ2B c.3504T>C p.N1168N Substitution - coding silent Pancreas COSM4147292 SMARCC2 c.3577A>C p.T1193P Substitution - Missense Prostate COSM4145728 PHF21A c.975C>A p.S325R Substitution - Missense Upper_aerodigestive_tract COSM4285224 UHRF1 c.2016G>C p.A672A Substitution - coding silent Soft_tissue COSM4398227 SP140_ENST00000392045 c.1758G>A p.K586K Substitution - coding silent Skin COSM4605750 WHSC1L1 c.66C>T p.L22L Substitution - coding silent Upper_aerodigestive_tract COSM4496449 SHPRH c.4759C>T p.P1587S Substitution - Missense Skin COSM4575616 MBD6 c.551delT p.F185fs*83 Deletion - Frameshift Large_intestine COSM4548179 BRWD1 c.4411G>A p.E1471K Substitution - Missense Skin COSM4528079 STK31 c.150G>A p.Q50Q Substitution - coding silent Skin COSM4506465 DNMT3B c.684C>T p.L228L Substitution - coding silent Skin COSM4590489 ATAT1 c.794A>C p.H265P Substitution - Missense Upper_aerodigestive_tract COSM4592612 KAT2A c.1561G>C p.V521L Substitution - Missense Upper_aerodigestive_tract COSM4694899 KDM2B c.1292G>A p.R431H Substitution - Missense Large_intestine COSM4765977 KMT2C c.8391_8392insA p.E2798fs*11 Insertion - Frameshift Stomach COSM4728469 SMEK2 c.1504delT p.C502fs*8 Deletion - Frameshift Large_intestine COSM4674653 CREBBP c.2237_2238insC p.M747fs*85 Insertion - Frameshift Large_intestine COSM4732906 TDRD5 c.1645C>T p.R549* Substitution - Nonsense Large_intestine COSM4766075 DNMT3A c.2598-1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4611655 HDAC2 c.33delA p.V12fs*20 Deletion - Frameshift Stomach COSM4650316 HDAC7 c.1385G>A p.R462Q Substitution - Missense Large_intestine COSM4902510 STK31 c.2879C>T p.S960L Substitution - Missense Skin COSM4934620 PHF11 c.735A>G p.P245P Substitution - coding silent Liver COSM4904776 TAF1L c.3132G>A p.V1044V Substitution - coding silent Skin COSM4837143 SETD2 c.2111C>G p.S704C Substitution - Missense Cervix COSM4960802 PRDM10 c.2467G>A p.G823S Substitution - Missense Liver COSM4945376 ASH1L c.5780A>C p.K1927T Substitution - Missense Liver COSM4969777 BRD1 c.2352C>T p.G784G Substitution - coding silent Central_nervous_system COSM4969587 GATAD2B c.1718G>A p.R573H Substitution - Missense Central_nervous_system COSM4995138 KMT2D c.10012C>T p.Q3338* Substitution - Nonsense Upper_aerodigestive_tract COSM4983396 KDM2A c.1614G>A p.T538T Substitution - coding silent Oesophagus COSM5019408 DNMT1 c.1584C>A p.I528I Substitution - coding silent Soft_tissue COSM5021135 ERCC6 c.1772C>T p.P591L Substitution - Missense Soft_tissue COSM5077724 PRDM16 c.1026C>T p.C342C Substitution - coding silent Large_intestine COSM5052623 ASH1L c.4992G>A p.Q1664Q Substitution - coding silent Stomach COSM5061583 ARID1B c.3955C>T p.R1319* Substitution - Nonsense Stomach COSM5037329 LMNB2 c.1035C>T p.D345D Substitution - coding silent Oesophagus COSM5037370 SETDB2 c.795G>A p.K265K Substitution - coding silent Oesophagus COSM5038915 ARID2 c.920C>A p.A307E Substitution - Missense Liver COSM5366178 DNMT3L c.929delC p.P310fs*21 Deletion - Frameshift Large_intestine COSM5378663 TDRD5 c.792G>A p.V264V Substitution - coding silent Skin COSM5356992 DUSP1 c.874C>T p.R292* Substitution - Nonsense Large_intestine COSM5492564 PHF19 c.1466G>A p.R489Q Substitution - Missense Biliary_tract COSM5423368 BRPF3 c.1851A>T p.P617P Substitution - coding silent Prostate COSM5634060 ATAD2 c.3046G>A p.D1016N Substitution - Missense Breast COSM5642959 HCFC1 c.2653C>G p.L885V Substitution - Missense Oesophagus COSM5718719 CHD8 c.3358C>T p.P1120S Substitution - Missense Skin COSM5735371 PHC2 c.2577G>T p.*859Y Nonstop extension Small_intestine COSM5678212 CHD6 c.6004G>T p.E2002* Substitution - Nonsense Soft_tissue COSM5676556 NCOA6 c.5577C>G p.T1859T Substitution - coding silent Soft_tissue COSM5776836 CAMKMT c.57G>A p.G19G Substitution - coding silent Breast COSM5789492 STK31 c.452C>T p.P151L Substitution - Missense Breast COSM5823964 SMYD1 c.63G>T p.L21L Substitution - coding silent Liver COSM5977750 ASXL1 c.3540T>G p.D1180E Substitution - Missense Central_nervous_system COSM5944260 TET2 c.1678delC p.L560fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5944863 PHF6 c.395_396insGAAAACT p.A135fs*5 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5944911 DNMT3A c.2385G>T p.W795C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5949821 CREBBP c.3609G>A p.K1203K Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5929151 TAF1L c.2924C>T p.P975L Substitution - Missense Skin COSM5904086 PHF6 c.307T>A p.Y103N Substitution - Missense Skin COSM5907993 PRDM2 c.4588C>T p.P1530S Substitution - Missense Skin COSM5907084 TCF20 c.3103C>T p.P1035S Substitution - Missense Skin COSM5966600 SMCHD1 c.1234C>A p.P412T Substitution - Missense Adrenal_gland COSM5974956 TET2 c.1490C>T p.T497I Substitution - Missense Upper_aerodigestive_tract COSM5995013 BRPF1 c.1853C>T p.T618M Substitution - Missense Prostate COSM4381097 KMT2C c.? p.G292E Substitution - Missense Breast COSM88815 TET2 c.? p.A1915fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM1102 SMARCB1 c.?_?del? p.?del Deletion - In frame Soft_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM4606362 PHF6 c.?_?insGGCA p.N23fs Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM132980 ASXL1 c.? p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4972323 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM4767408 MEN1 c.?_?del? p.A465_A467del Deletion - In frame Thyroid COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM255068 KDM6A c.2112_2121del10 p.T705fs*7 Deletion - Frameshift Urinary_tract COSM1081855 PHIP c.3686G>A p.R1229Q Substitution - Missense Endometrium COSM3729906 MBD4 c.939delA p.E314fs*4 Deletion - Frameshift Large_intestine COSM4312146 DNMT3A c.953G>A p.R318Q Substitution - Missense Large_intestine COSM3423653 CHD6 c.651G>T p.T217T Substitution - coding silent Kidney COSM5829020 NCOA6 c.2793-10_2793-3delTTTTTTTT p.? Unknown Large_intestine COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM1583082 DNMT3A c.1741T>G p.W581G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3413843 PHF2 c.420G>A p.P140P Substitution - coding silent Large_intestine COSM3727849 TRIM66 c.1888C>G p.L630V Substitution - Missense Upper_aerodigestive_tract COSM4496961 MBD3 c.486C>T p.P162P Substitution - coding silent Skin COSM4666200 BRPF3 c.2926C>T p.P976S Substitution - Missense Large_intestine COSM4150509 ATAD2 c.1646+6A>T p.? Unknown Ovary COSM5433399 KDM6B c.84G>C p.W28C Substitution - Missense Oesophagus COSM4508258 ZBTB4 c.769C>T p.R257* Substitution - Nonsense Skin COSM4681142 EP400 c.8211G>A p.Q2737Q Substitution - coding silent Large_intestine COSM231055 PRDM9 c.1790C>G p.T597S Substitution - Missense Prostate COSM5829020 NCOA6 c.2793-10_2793-3delTTTTTTTT p.? Unknown Large_intestine COSM4938538 NCOA2 c.974A>G p.E325G Substitution - Missense Liver COSM4036878 RSF1 c.3129A>G p.G1043G Substitution - coding silent Stomach COSM4080147 PRMT1 c.757C>T p.R253W Substitution - Missense Stomach COSM4387347 ATAD2 c.3322A>G p.R1108G Substitution - Missense Lung COSM5718949 HELLS c.344C>T p.S115L Substitution - Missense Skin COSM1291357 ATF2 c.431C>T p.T144I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87108 TET2 c.2692G>T p.G898* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5666119 CDYL c.1684G>T p.E562* Substitution - Nonsense Soft_tissue COSM4034379 PHRF1 c.940G>A p.E314K Substitution - Missense Stomach COSM4136179 HNF1A c.436C>A p.Q146K Substitution - Missense Pancreas COSM3554888 EP300 c.3595C>T p.H1199Y Substitution - Missense Skin COSM28309 ALKBH1 c.1059C>T p.F353F Substitution - coding silent Skin COSM5710072 EHMT2 c.200C>A p.P67Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Soft_tissue COSM363453 TAF1L c.1723A>T p.M575L Substitution - Missense Lung COSM5371135 KAT6B c.4850C>T p.P1617L Substitution - Missense Skin COSM3724764 ATF7IP c.3531A>G p.I1177M Substitution - Missense Lung COSM3508973 SETD1A c.1142C>T p.S381F Substitution - Missense Skin COSM4099094 NCOA3 c.1212G>A p.S404S Substitution - coding silent Stomach COSM3817841 SETD1A c.1254C>T p.S418S Substitution - coding silent Breast COSM3758407 SMYD1 c.1185C>T p.A395A Substitution - coding silent Large_intestine COSM132992 ARID1A c.6259G>A p.G2087R Substitution - Missense Biliary_tract COSM5773137 GATAD2B c.749C>G p.S250* Substitution - Nonsense Breast COSM4846278 BAZ1B c.265C>T p.L89L Substitution - coding silent Cervix COSM3767493 BAP1 c.745A>G p.K249E Substitution - Missense Liver COSM307730 BAP1 c.283G>C p.A95P Substitution - Missense Kidney COSM5715614 NIPBL c.1978G>T p.E660* Substitution - Nonsense Skin COSM2155978 CHD6 c.2032A>G p.M678V Substitution - Missense Central_nervous_system COSM3775088 DHX30 c.1137G>C p.Q379H Substitution - Missense Urinary_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM3949097 DAXX c.375C>T p.V125V Substitution - coding silent Lung COSM4987253 TAF3 c.1046G>C p.S349T Substitution - Missense Soft_tissue COSM3388270 CHD3 c.559A>T p.T187S Substitution - Missense Pancreas COSM5352041 CHD4 c.3656T>A p.L1219H Substitution - Missense Kidney COSM937180 EP400 c.7068C>T p.I2356I Substitution - coding silent Endometrium COSM5614887 EP300 c.34T>G p.S12A Substitution - Missense Lung COSM1296341 ZMYM4 c.1574C>G p.S525* Substitution - Nonsense Urinary_tract COSM4622637 KMT2D c.15040T>C p.F5014L Substitution - Missense Large_intestine COSM5731118 KMT2D c.5336G>A p.W1779* Substitution - Nonsense Breast COSM463104 ASH1L c.8523C>G p.R2841R Substitution - coding silent Kidney COSM4465023 PRDM5 c.1363C>T p.H455Y Substitution - Missense Skin COSM41292 IDH1 c.? p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5717478 TAF1L c.1462C>T p.P488S Substitution - Missense Skin COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3711308 ARID1A c.2073C>A p.G691G Substitution - coding silent Upper_aerodigestive_tract COSM1186271 SETD2 c.1643C>A p.S548* Substitution - Nonsense Lung COSM4842764 GABRG1 c.812G>T p.G271V Substitution - Missense Cervix COSM3631922 PHF14 c.1729C>T p.R577C Substitution - Missense Skin COSM1732157 KDM6A c.49_51delGCT p.A17delA Deletion - In frame Kidney COSM1183546 ARID1A c.3668G>A p.R1223H Substitution - Missense Large_intestine COSM87093 TET2 c.1860C>G p.Y620* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4575224 EP400 c.5691C>T p.F1897F Substitution - coding silent Bone COSM442940 CAMKMT c.770C>T p.A257V Substitution - Missense Endometrium COSM4575882 RNF17 c.1864G>T p.D622Y Substitution - Missense Bone COSM5960387 KDM3B c.3950C>T p.P1317L Substitution - Missense Thyroid COSM5514839 NCOA1 c.809-10C>A p.? Unknown Biliary_tract COSM4440199 TAF1L c.3331G>T p.A1111S Substitution - Missense Thyroid COSM3656084 EHMT1 c.1059G>A p.E353E Substitution - coding silent Skin COSM75061 JHDM1D c.2056G>A p.D686N Substitution - Missense Ovary COSM436091 NCOR1 c.3192_3193insGCCT p.Y1065fs*7 Insertion - Frameshift Breast COSM5678351 TRIM33 c.432C>T p.P144P Substitution - coding silent Soft_tissue COSM3381382 BRPF3 c.1132C>T p.R378C Substitution - Missense Pancreas COSM1061245 BRD8 c.942G>A p.A314A Substitution - coding silent Endometrium COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3644830 ATAD2 c.2381G>A p.R794K Substitution - Missense Skin COSM1025719 ASXL1 c.473C>T p.A158V Substitution - Missense Endometrium COSM755442 SMARCA1 c.2818-2A>C p.? Unknown Lung COSM4097561 ASXL1 c.2704C>T p.P902S Substitution - Missense Stomach COSM1580934 GABRG1 c.1064A>G p.H355R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4756830 CTCF c.1066T>C p.C356R Substitution - Missense Stomach COSM28787 KDM6A c.2654_2663del10 p.M885fs*10 Deletion - Frameshift Kidney COSM4385411 ATRX c.6031G>A p.A2011T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM999145 UHRF1 c.849G>T p.R283R Substitution - coding silent Endometrium COSM458631 PHF21A c.1036G>A p.E346K Substitution - Missense Cervix COSM335935 HDAC9 c.963G>T p.L321L Substitution - coding silent Lung COSM1372772 RTF1 c.1283G>A p.R428Q Substitution - Missense Central_nervous_system COSM1215170 KMT2A c.6825T>A p.N2275K Substitution - Missense Large_intestine COSM1017629 SP100 c.92G>A p.S31N Substitution - Missense Endometrium COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1222112 PRMT5 c.239C>T p.T80M Substitution - Missense Large_intestine COSM2874534 PRDM14 c.594G>A p.T198T Substitution - coding silent Skin COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Bone COSM5952375 SMYD3 c.711G>C p.L237L Substitution - coding silent Oesophagus COSM703028 CREBBP c.2441C>T p.P814L Substitution - Missense Lung COSM5591421 JHDM1D c.2441C>T p.S814F Substitution - Missense Skin COSM1738041 TET2 c.? p.S402fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM5716135 TDRKH c.1486C>T p.P496S Substitution - Missense Skin COSM4762858 HCFC1 c.2033C>T p.S678L Substitution - Missense Stomach COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5953346 RSF1 c.1352T>C p.V451A Substitution - Missense Oesophagus COSM5612272 NCOA1 c.1486G>A p.G496R Substitution - Missense Adrenal_gland COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM985508 CHD3 c.4104G>T p.E1368D Substitution - Missense Endometrium COSM5601799 MECOM c.2078G>A p.S693N Substitution - Missense Skin COSM1472697 TDRD10 c.304G>A p.V102M Substitution - Missense Breast COSM88807 TET2 c.? p.P1885fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM3466205 AICDA c.506C>T p.S169L Substitution - Missense Skin COSM159974 CHD1 c.2034G>A p.G678G Substitution - coding silent Breast COSM3735009 EZH2 c.? p.A103V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4990556 ARID1A c.3839C>T p.P1280L Substitution - Missense Skin COSM1609875 NCOR1 c.5549A>C p.E1850A Substitution - Missense Liver COSM2758155 NCOA6 c.4052C>T p.A1351V Substitution - Missense Large_intestine COSM5412744 SUV39H1 c.480C>T p.F160F Substitution - coding silent Skin COSM85913 IKZF1 c.1-?_160+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5095977 ING3 c.639T>C p.I213I Substitution - coding silent Large_intestine COSM5600534 SMYD1 c.290G>A p.G97E Substitution - Missense Skin COSM4479602 KDM5A c.2340C>T p.L780L Substitution - coding silent Skin COSM3767492 BAP1 c.758A>T p.Q253L Substitution - Missense Liver COSM1684621 ZMYND8 c.1312delG p.G439fs*16 Deletion - Frameshift Large_intestine COSM2067795 ARID2 c.994C>T p.L332F Substitution - Missense Oesophagus COSM286650 ZCWPW2 c.615A>C p.K205N Substitution - Missense Large_intestine COSM5481058 SMARCD1 c.918+2T>C p.? Unknown Large_intestine COSM3749716 NCOA3 c.3753G>A p.Q1251Q Substitution - coding silent Large_intestine COSM4146853 EP400 c.6646A>C p.T2216P Substitution - Missense Upper_aerodigestive_tract COSM5051594 ARID2 c.1079C>A p.T360K Substitution - Missense Stomach COSM5019618 DAXX c.1137T>C p.Y379Y Substitution - coding silent Soft_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM907681 ARID1A c.1242_1249delACATGGGT p.H415fs*205 Deletion - Frameshift Endometrium COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM945413 ING1 c.688G>T p.E230* Substitution - Nonsense Endometrium COSM4788264 BAZ2B c.2984A>C p.Q995P Substitution - Missense Liver COSM478594 BRWD1 c.3589T>C p.Y1197H Substitution - Missense Kidney COSM5678565 ZBTB38 c.2667C>T p.L889L Substitution - coding silent Soft_tissue COSM987395 AP001011.3_ENST00000320876 c.2288C>T p.S763L Substitution - Missense Endometrium COSM4927653 MGA c.603G>A p.L201L Substitution - coding silent Liver COSM84122 PRDM10 c.1895G>A p.R632H Substitution - Missense Pancreas COSM753806 SMARCA2 c.166C>T p.P56S Substitution - Missense Lung COSM3561787 PHF16 c.2370G>A p.R790R Substitution - coding silent Skin COSM99742 DNMT3A c.2191_2193delTTC p.F731del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM52984 DNMT3A c.? p.R882S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5020013 TET2 c.5162T>G p.L1721W Substitution - Missense Soft_tissue COSM4694883 KDM2B c.2865C>A p.A955A Substitution - coding silent Large_intestine COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1711239 SETBP1 c.2942C>T p.P981L Substitution - Missense Skin COSM3962671 ING5 c.692G>T p.R231L Substitution - Missense Lung COSM1314134 CHD7 c.2960G>A p.R987Q Substitution - Missense Cervix COSM5628121 PRDM9 c.2524C>A p.R842S Substitution - Missense Oesophagus COSM480797 PRDM5 c.106G>A p.G36R Substitution - Missense Kidney COSM3650665 PRDM14 c.1540G>A p.E514K Substitution - Missense Skin COSM4591901 NCOR1 c.618+6T>A p.? Unknown Upper_aerodigestive_tract COSM309523 BRD9 c.1135-3C>G p.? Unknown Soft_tissue COSM381401 SETD3 c.1156C>T p.R386* Substitution - Nonsense Stomach COSM4663227 ARID1A c.4315G>A p.A1439T Substitution - Missense Large_intestine COSM3488226 PRDM16 c.2101G>A p.E701K Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2270982 ASXL1 c.1249C>T p.R417* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4042367 KMT2D c.8435G>A p.R2812Q Substitution - Missense Stomach COSM4617914 DOT1L c.2991G>A p.S997S Substitution - coding silent Large_intestine COSM5752691 KMT2C c.10450C>T p.Q3484* Substitution - Nonsense Breast COSM1197810 TAF1L c.5254G>C p.V1752L Substitution - Missense Lung COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4101611 BRWD1 c.1374A>T p.G458G Substitution - coding silent Stomach COSM4061193 CHD9 c.1491T>C p.Y497Y Substitution - coding silent Stomach COSM1343379 ORC1 c.354G>A p.P118P Substitution - coding silent Large_intestine COSM4651167 PRDM16 c.2809C>G p.P937A Substitution - Missense Large_intestine COSM3991853 ZGPAT c.286G>A p.A96T Substitution - Missense Kidney COSM5900586 CHD8 c.6520G>A p.G2174R Substitution - Missense Skin COSM1112290 MORF4L2 c.353G>T p.R118I Substitution - Missense Endometrium COSM1754575 SHPRH c.2197G>C p.E733Q Substitution - Missense Urinary_tract COSM1640477 CREBBP c.3468C>T p.D1156D Substitution - coding silent Stomach COSM1214802 MECP2 c.254G>A p.R85H Substitution - Missense Large_intestine COSM5341238 EPC1 c.596G>A p.R199Q Substitution - Missense Large_intestine COSM4620678 MTA1 c.1591C>T p.R531C Substitution - Missense Large_intestine COSM480293 BAP1 c.92A>C p.E31A Substitution - Missense Kidney COSM3650068 CHD7 c.1762C>T p.P588S Substitution - Missense Skin COSM4918406 PHF10 c.486C>A p.V162V Substitution - coding silent Liver COSM5999633 KMT2A c.11657G>A p.R3886Q Substitution - Missense Prostate COSM5596843 HNF1A c.972G>A p.Q324Q Substitution - coding silent Skin COSM4916265 KMT2D c.15602+1G>T p.? Unknown Liver COSM4401438 L3MBTL2 c.368A>G p.K123R Substitution - Missense Skin COSM1651163 SETDB1 c.2549G>A p.G850D Substitution - Missense Endometrium COSM4697166 L3MBTL4 c.63C>T p.D21D Substitution - coding silent Large_intestine COSM5587230 ASXL3 c.571A>G p.T191A Substitution - Missense Skin COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4915258 BRPF1 c.367G>A p.E123K Substitution - Missense Liver COSM4065383 SUZ12 c.857G>A p.R286Q Substitution - Missense Stomach COSM5445446 BAZ1B c.3627C>T p.F1209F Substitution - coding silent Oesophagus COSM4036879 RSF1 c.2994A>G p.K998K Substitution - coding silent Stomach COSM5646345 EPC2 c.1591A>G p.R531G Substitution - Missense Oesophagus COSM96414 CREBBP c.4061C>T p.A1354V Substitution - Missense Ovary COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Upper_aerodigestive_tract COSM4851753 BTAF1 c.4476G>T p.L1492L Substitution - coding silent Cervix COSM2965387 KDM6A c.2364C>T p.A788A Substitution - coding silent Upper_aerodigestive_tract COSM438022 SMCHD1 c.853G>T p.V285F Substitution - Missense Breast COSM1106570 WDR5 c.768G>A p.K256K Substitution - coding silent Endometrium COSM4483974 SMARCA4 c.2756C>T p.P919L Substitution - Missense Skin COSM1746178 PRMT3 c.90G>A p.E30E Substitution - coding silent Urinary_tract COSM1393334 DPF1 c.270delC p.R91fs*15 Deletion - Frameshift Large_intestine COSM908136 PRDM16 c.420G>T p.Q140H Substitution - Missense Endometrium COSM3701690 BRWD1 c.1374A>G p.G458G Substitution - coding silent Liver COSM5575972 PBRM1 c.4579C>T p.R1527* Substitution - Nonsense Stomach COSM5945315 CREBBP c.5284A>T p.K1762* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1030933 PRDM15 c.3826G>A p.V1276I Substitution - Missense Endometrium COSM4170445 KMT2D c.3539A>G p.H1180R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4885535 PHF13 c.704G>T p.C235F Substitution - Missense Upper_aerodigestive_tract COSM52993 EZH2 c.982C>T p.Q328* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM71656 KMT2C c.6301C>G p.P2101A Substitution - Missense Ovary COSM52781 PBRM1 c.3892C>T p.Q1298* Substitution - Nonsense Kidney COSM1602272 ZMYM1 c.1498A>T p.T500S Substitution - Missense Liver COSM384723 JMJD1C c.129C>A p.R43R Substitution - coding silent Lung COSM4940686 HCFC1 c.3525G>A p.V1175V Substitution - coding silent Liver COSM1672692 HDAC2 c.562T>G p.F188V Substitution - Missense Large_intestine COSM5765813 ATF7IP c.4G>C p.D2H Substitution - Missense Large_intestine COSM261230 HDAC6 c.3129G>T p.Q1043H Substitution - Missense Large_intestine COSM5620464 CDYL c.1631A>G p.N544S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM905721 KDM1A c.2409A>G p.P803P Substitution - coding silent Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4626675 JMJD1C c.2047A>T p.S683C Substitution - Missense Large_intestine COSM5608359 EP300 c.4515G>T p.E1505D Substitution - Missense Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4428051 KMT2A c.5332G>A p.E1778K Substitution - Missense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4693835 JMJD1C c.4362T>C p.V1454V Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM217332 KDM3B c.5025G>T p.Q1675H Substitution - Missense Liver COSM374136 RNF17 c.787A>T p.I263F Substitution - Missense Lung COSM453960 ATAD2 c.2189G>A p.R730K Substitution - Missense Breast COSM1719510 KMT2D c.11554G>A p.G3852R Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM689321 PHRF1 c.4862C>G p.A1621G Substitution - Missense Lung COSM1377474 SRCAP c.5625_5626insC p.P1879fs*21 Insertion - Frameshift Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3992197 EP300 c.61C>G p.P21A Substitution - Missense Kidney COSM5716097 GTF3C4 c.1360T>A p.F454I Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM228110 KMT2C c.1042G>A p.D348N Substitution - Missense Soft_tissue COSM3911517 NCOA3 c.1190C>T p.S397L Substitution - Missense Skin COSM215958 BRD8 c.533G>A p.R178Q Substitution - Missense Central_nervous_system COSM5417377 RUVBL1 c.543G>T p.Q181H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5740209 SETD3 c.914C>T p.A305V Substitution - Missense Small_intestine COSM5990719 DPF2 c.577_578GC>TG p.A193C Substitution - Missense Liver COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM5642488 CHD8 c.6888G>C p.L2296L Substitution - coding silent Oesophagus COSM4732899 TDRD3 c.1658_1659insA p.M555fs*7 Insertion - Frameshift Large_intestine COSM1263590 PWWP2B c.1578G>A p.A526A Substitution - coding silent Stomach COSM85584 ARID1A c.5947_5948delTG p.S1985fs*13 Deletion - Frameshift Pancreas COSM4793164 RNF17 c.343A>T p.K115* Substitution - Nonsense Liver COSM4151564 NCOA2 c.4150T>A p.Y1384N Substitution - Missense Ovary COSM3830138 EHMT2 c.1903G>A p.A635T Substitution - Missense Breast COSM1359519 SETD1B c.2095G>A p.E699K Substitution - Missense Large_intestine COSM464479 ZMYM6 c.2968T>G p.Y990D Substitution - Missense Kidney COSM1627572 JMJD1C c.4765A>G p.I1589V Substitution - Missense Liver COSM3942973 EHMT1 c.199G>C p.E67Q Substitution - Missense Oesophagus COSM302137 EP400 c.8181A>G p.Q2727Q Substitution - coding silent Prostate COSM1681678 CHD6 c.7405A>T p.M2469L Substitution - Missense Kidney COSM1167991 ARID2 c.890C>T p.S297F Substitution - Missense Skin COSM976131 RAI1 c.4911G>A p.S1637S Substitution - coding silent Endometrium COSM5963065 PRDM15 c.1279G>A p.E427K Substitution - Missense Breast COSM131496 SMARCA4 c.4471C>T p.R1491* Substitution - Nonsense Liver COSM2759359 PHF20 c.1950C>T p.F650F Substitution - coding silent Skin COSM1311076 PRDM9 c.1886G>C p.R629T Substitution - Missense Urinary_tract COSM5833683 GATAD2A c.917delC p.A306fs*10 Deletion - Frameshift Breast COSM21293 TRRAP c.2607C>T p.R869R Substitution - coding silent Large_intestine COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM25323 RBBP7 c.827A>G p.N276S Substitution - Missense Upper_aerodigestive_tract COSM26994 NSD1 c.6879A>G p.L2293L Substitution - coding silent Kidney COSM37030 EZH2 c.1936T>C p.Y646H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM36205 ASXL1 c.3306G>T p.E1102D Substitution - Missense Soft_tissue COSM78862 ACTL6B c.1153G>T p.E385* Substitution - Nonsense Ovary COSM107335 ASH1L c.8578G>A p.E2860K Substitution - Missense Skin COSM96485 TET2 c.651_651delC p.V218fs*32 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM107494 TRRAP c.2165C>T p.S722F Substitution - Missense Skin COSM116100 L3MBTL2 c.1874A>C p.Q625P Substitution - Missense Ovary COSM121734 RERE c.3219G>T p.A1073A Substitution - coding silent Upper_aerodigestive_tract COSM131033 ARID2 c.200delA p.N67fs*23 Deletion - Frameshift Liver COSM144515 TET2 c.4615C>T p.Q1539* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Upper_aerodigestive_tract COSM41706 TET2 c.4354C>T p.R1452* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM215996 EYA4 c.1643C>T p.T548M Substitution - Missense Central_nervous_system COSM249134 DNMT3A c.1713_1721del9 p.A572_A574del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM301930 CHD3 c.721G>C p.A241P Substitution - Missense Stomach COSM302136 EP300 c.4400A>G p.Y1467C Substitution - Missense Central_nervous_system COSM296466 CHD8 c.7496C>A p.P2499H Substitution - Missense Large_intestine COSM322832 PRMT8 c.299G>A p.R100Q Substitution - Missense Lung COSM336538 CHD3 c.1246G>T p.G416C Substitution - Missense Lung COSM334841 ELP3 c.957T>C p.P319P Substitution - coding silent Lung COSM355063 GTF3C1 c.4999A>T p.S1667C Substitution - Missense Lung COSM371393 SP100 c.1344A>T p.R448S Substitution - Missense Lung COSM390183 CHD6 c.6148G>A p.E2050K Substitution - Missense Lung COSM422826 PBRM1 c.3848T>A p.V1283E Substitution - Missense Kidney COSM452454 JHDM1D c.2357A>C p.D786A Substitution - Missense Breast COSM452905 CBX3 c.420G>A p.M140I Substitution - Missense Breast COSM466404 KMT2A c.9468G>C p.M3156I Substitution - Missense Kidney COSM473776 ASXL3 c.38C>G p.A13G Substitution - Missense Kidney COSM915024 TDRD1 c.2220G>T p.K740N Substitution - Missense Large_intestine COSM1025737 ASXL1 c.4078C>T p.P1360S Substitution - Missense Endometrium COSM1031243 AIRE c.709G>A p.E237K Substitution - Missense Cervix COSM700502 TP53BP1 c.3517A>T p.T1173S Substitution - Missense Lung COSM723966 NCOA6 c.717A>T p.P239P Substitution - coding silent Lung COSM732045 TET2 c.2824C>T p.P942S Substitution - Missense Lung COSM935974 HNF1A c.862delG p.P291fs*51 Deletion - Frameshift Endometrium COSM1114817 SMARCA1 c.468G>A p.E156E Substitution - coding silent Endometrium COSM1230641 TRRAP c.5786G>A p.R1929Q Substitution - Missense Stomach COSM1202276 CREBBP c.7037C>T p.P2346L Substitution - Missense Large_intestine COSM1200968 CHD3 c.1356G>T p.E452D Substitution - Missense Large_intestine COSM1258623 MYST3 c.4145C>T p.T1382M Substitution - Missense Stomach COSM1169697 TET2 c.1061C>A p.S354* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1221875 PRDM14 c.659A>G p.H220R Substitution - Missense Large_intestine COSM1603247 SUV39H2 c.843T>C p.N281N Substitution - coding silent Liver COSM1606131 ARID2 c.799G>T p.E267* Substitution - Nonsense Biliary_tract COSM1334441 TDRD10 c.321G>C p.R107S Substitution - Missense Large_intestine COSM1324622 ASXL3 c.809C>T p.T270I Substitution - Missense Ovary COSM1375536 CHD2 c.515delA p.V175fs*1 Deletion - Frameshift Large_intestine COSM1396560 SUV420H2 c.651C>T p.Y217Y Substitution - coding silent Large_intestine COSM1391088 BRD4 c.1261G>C p.D421H Substitution - Missense Large_intestine COSM1407113 DNMT3A c.1385C>T p.A462V Substitution - Missense Large_intestine COSM1420544 PHC3 c.1376G>A p.G459D Substitution - Missense Large_intestine COSM1448356 TRIM24 c.1015C>T p.R339C Substitution - Missense Large_intestine COSM1448544 JHDM1D c.731T>C p.I244T Substitution - Missense Large_intestine COSM1359515 SETD1B c.1273delC p.Q427fs*11 Deletion - Frameshift Large_intestine COSM1353904 PHF21A c.1370G>A p.C457Y Substitution - Missense Large_intestine COSM1475948 EED c.424G>A p.D142N Substitution - Missense Breast COSM1474555 BMI1 c.846T>G p.P282P Substitution - coding silent Breast COSM1611234 SETBP1 c.486+6A>G p.? Unknown Liver COSM1614493 SP110 c.1862C>T p.S621F Substitution - Missense Liver COSM1626099 TAF1 c.1663-10C>G p.? Unknown Liver COSM1636158 TAF1L c.4049A>G p.E1350G Substitution - Missense Liver COSM1680364 CXXC1 c.1565G>A p.R522H Substitution - Missense Large_intestine COSM1680488 DOT1L c.3609A>C p.K1203N Substitution - Missense Large_intestine COSM1676676 ING4 c.695C>A p.P232H Substitution - Missense Large_intestine COSM1675369 KAT6B c.5917C>T p.P1973S Substitution - Missense Large_intestine COSM1708694 CREBBP c.3368C>T p.P1123L Substitution - Missense Skin COSM1719505 MINA c.279delG p.M94fs*7 Deletion - Frameshift Skin COSM1737965 TET2 c.1072A>G p.S358G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1992293 APOBEC1 c.64G>A p.E22K Substitution - Missense Skin COSM2150774 HDAC9 c.2346C>A p.P782P Substitution - coding silent Central_nervous_system COSM2157022 SETD2 c.3330+2T>C p.? Unknown Central_nervous_system COSM2235571 ARID1A c.6343C>T p.Q2115* Substitution - Nonsense Large_intestine COSM2758222 NCOA6 c.1129C>T p.P377S Substitution - Missense Skin COSM2819107 PRDM15 c.2668G>A p.G890S Substitution - Missense Large_intestine COSM2911413 NCOA1 c.2074C>T p.R692W Substitution - Missense Large_intestine COSM2965375 KDM6A c.2199C>A p.H733Q Substitution - Missense Upper_aerodigestive_tract COSM3048244 SP110 c.1334A>G p.N445S Substitution - Missense Large_intestine COSM3160325 PHF3 c.4920G>A p.A1640A Substitution - coding silent Large_intestine COSM3355896 ASH1L c.4999T>C p.S1667P Substitution - Missense Breast COSM3509563 CREBBP c.2064G>A p.P688P Substitution - coding silent Large_intestine COSM3433184 KIAA2026_ENST00000399933 c.972C>A p.V324V Substitution - coding silent Large_intestine COSM3471965 TTF2 c.2508C>T p.P836P Substitution - coding silent Skin COSM3447388 PRDM11 c.89G>A p.R30K Substitution - Missense Skin COSM3460553 KDM5A c.3711C>T p.P1237P Substitution - coding silent Skin COSM3474960 ASH1L c.6300C>T p.T2100T Substitution - coding silent Skin COSM3614510 NSD1 c.5441C>T p.P1814L Substitution - Missense Skin COSM3545299 DNMT3B c.475C>T p.P159S Substitution - Missense Skin COSM3525841 SETBP1 c.145C>T p.P49S Substitution - Missense Skin COSM3663864 NCOA2 c.323G>A p.G108D Substitution - Missense Liver COSM3650666 PRDM14 c.1290G>A p.R430R Substitution - coding silent Skin COSM3733280 SMARCA4 c.3724G>T p.E1242* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3756112 AP001011.3_ENST00000320876 c.3528A>G p.T1176T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3752792 TRIM66 c.1397A>G p.H466R Substitution - Missense Upper_aerodigestive_tract COSM3762234 ZCWPW1 c.81C>T p.Y27Y Substitution - coding silent Large_intestine COSM3923214 KMT2C c.919C>T p.H307Y Substitution - Missense Skin COSM3883782 TRRAP c.11340C>A p.S3780S Substitution - coding silent Stomach COSM3901325 PRDM14 c.889G>A p.G297R Substitution - Missense Stomach COSM3958069 SMYD4 c.135-10C>T p.? Unknown Lung COSM3958888 CHD3 c.2012C>G p.P671R Substitution - Missense Lung COSM4043685 BAZ2A c.1680C>T p.D560D Substitution - coding silent Stomach COSM4068905 BPTF c.1484G>C p.S495T Substitution - Missense Stomach COSM4157416 MECOM c.1728A>C p.T576T Substitution - coding silent Thyroid COSM4392294 PHIP c.2581A>T p.I861F Substitution - Missense Prostate COSM4596655 SETD1B c.515C>G p.P172R Substitution - Missense Upper_aerodigestive_tract COSM4586943 PHIP c.3423T>C p.D1141D Substitution - coding silent Bone COSM4593164 EP400 c.6637A>C p.T2213P Substitution - Missense Upper_aerodigestive_tract COSM4671293 CDYL c.1180G>A p.A394T Substitution - Missense Large_intestine COSM4721056 RERE c.362C>T p.P121L Substitution - Missense Large_intestine COSM4689586 HCFC1 c.3600C>T p.H1200H Substitution - coding silent Large_intestine COSM4766097 TET2 c.2375_2375delC p.S792fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4675310 CTCF c.278C>T p.T93I Substitution - Missense Large_intestine COSM4647919 SETD1A c.3973G>A p.A1325T Substitution - Missense Large_intestine COSM4752929 NIPBL c.6356A>G p.K2119R Substitution - Missense Stomach COSM4749293 L3MBTL4 c.455C>A p.P152H Substitution - Missense Stomach COSM4888467 KMT2D c.14025C>A p.P4675P Substitution - coding silent Upper_aerodigestive_tract COSM4909142 KMT2C c.1050G>A p.P350P Substitution - coding silent Thyroid COSM4912133 MECOM c.2882A>G p.H961R Substitution - Missense Liver COSM4938010 BRD1 c.2950G>C p.E984Q Substitution - Missense Liver COSM4936095 EPC2 c.802G>T p.V268F Substitution - Missense Liver COSM4915091 ARID1B c.3261C>G p.V1087V Substitution - coding silent Liver COSM5015050 KMT2A c.518G>A p.R173Q Substitution - Missense Kidney COSM5062865 ATAD2 c.807_818del12 p.D274_D277delDDDD Deletion - In frame Stomach COSM5075322 ATAD2B_ENST00000238789 c.2939T>G p.F980C Substitution - Missense Large_intestine COSM5218302 BRPF3 c.2421delG p.D809fs*51 Deletion - Frameshift Breast COSM5385445 CDYL2 c.1481C>T p.S494F Substitution - Missense Skin COSM5405994 ZCWPW1 c.621G>A p.K207K Substitution - coding silent Skin COSM5392548 DIDO1 c.3951C>T p.I1317I Substitution - coding silent Skin COSM5496812 TDRD5 c.629G>A p.G210E Substitution - Missense Biliary_tract COSM5479666 CHD3 c.1380C>T p.R460R Substitution - coding silent Large_intestine COSM5481459 SMARCA4 c.3951+6C>T p.? Unknown Large_intestine COSM5447700 BAG6 c.379C>T p.R127W Substitution - Missense Large_intestine COSM5640627 KMT2D c.15020delA p.E5007fs*12 Deletion - Frameshift Oesophagus COSM5720727 PRDM13 c.391G>A p.E131K Substitution - Missense Skin COSM5721363 TDRD7 c.2562C>T p.S854S Substitution - coding silent Skin COSM5622169 WDR5 c.223T>C p.Y75H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5702071 JARID2 c.633_634GA>TT p.R211_K212>S* Complex - compound substitution Soft_tissue COSM5556671 PRDM9 c.1792C>T p.H598Y Substitution - Missense Prostate COSM5794194 EHMT1 c.2436G>T p.L812F Substitution - Missense Breast COSM5833082 CREBBP c.6150_6151insG p.P2051fs*290 Insertion - Frameshift Breast COSM5879031 TET2 c.4080delG p.G1361fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5810020 SND1 c.936G>T p.R312S Substitution - Missense Liver COSM5805961 ING4 c.494G>T p.R165L Substitution - Missense Liver COSM5820742 STK31 c.1297G>A p.E433K Substitution - Missense Liver COSM5882073 ALKBH3 c.79+2C>T p.? Unknown Gastrointestinal_tract_(site_indeterminate) COSM5945647 DNMT3A c.1880_1880delC p.P627fs*24 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5944222 DNMT3A c.1965delT p.Q656fs*49 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5906057 NCOR1 c.1367C>T p.P456L Substitution - Missense Skin COSM5894071 CHD6 c.7360C>T p.P2454S Substitution - Missense Skin COSM5903293 MSL3 c.770T>G p.M257R Substitution - Missense Skin COSM6017935 ADNP c.3141G>A p.W1047* Substitution - Nonsense Skin COSM6002316 SETD1A c.97C>T p.R33C Substitution - Missense Prostate COSM6014163 PWWP2B c.292C>T p.R98C Substitution - Missense Skin COSM5969913 KAT6B c.3289_3294delGAAGAA p.E1103_E1104delEE Deletion - In frame Upper_aerodigestive_tract COSM5976244 JHDM1D c.129G>A p.R43R Substitution - coding silent Upper_aerodigestive_tract COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM52883 PBRM1 c.2887T>C p.Y963H Substitution - Missense Kidney COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1666860 ARID1A c.? p.D1850fs*33 Unknown Urinary_tract COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1169489 BAP1 c.? p.? Unknown Kidney COSM53147 TET2 c.? p.V160fs*22 Frameshift Haematopoietic_and_lymphoid_tissue COSM1666676 SETBP1 c.? p.I871T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM23039 MEN1 c.? p.G156D Substitution - Missense Parathyroid COSM3551839 PRMT2 c.462C>T p.F154F Substitution - coding silent Skin COSM5637268 WHSC1 c.3453C>G p.L1151L Substitution - coding silent Oesophagus COSM4015106 JMJD1C c.4651A>G p.I1551V Substitution - Missense Stomach COSM1615120 PCGF1 c.705T>C p.P235P Substitution - coding silent Liver COSM3076008 BRPF3 c.3477A>C p.E1159D Substitution - Missense Large_intestine COSM1678964 CCDC101 c.179G>A p.R60H Substitution - Missense Large_intestine COSM166347 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3365443 TET2 c.3825G>A p.G1275G Substitution - coding silent Biliary_tract COSM3562446 PHF8 c.1237C>T p.L413L Substitution - coding silent Skin COSM3672238 SETD1A c.4807C>A p.R1603S Substitution - Missense Prostate COSM144170 ARID1A c.1592C>T p.P531L Substitution - Missense Skin COSM3967034 ZMYND11 c.543A>G p.Q181Q Substitution - coding silent Central_nervous_system COSM909899 KDM4A c.2138C>T p.S713L Substitution - Missense Endometrium COSM3563164 TAF1 c.5423C>T p.P1808L Substitution - Missense Skin COSM1490467 SMARCA1 c.1455T>A p.S485R Substitution - Missense Breast COSM5791036 DNMT3A c.2286C>T p.G762G Substitution - coding silent Breast COSM4705976 NCOA7 c.15A>C p.E5D Substitution - Missense Large_intestine COSM295331 HDGFL1 c.694G>T p.E232* Substitution - Nonsense Large_intestine COSM5707567 DNMT3L c.1027_1029delGAA p.E343delE Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM4845519 KMT2A c.4822G>A p.E1608K Substitution - Missense Cervix COSM3636467 KMT2C c.12104C>T p.P4035L Substitution - Missense Skin COSM457531 KDM6A c.3356T>C p.L1119P Substitution - Missense Breast COSM2859789 TRIM24 c.365-5C>T p.? Unknown Skin COSM3360338 TDRKH c.443G>A p.R148H Substitution - Missense Kidney COSM1665696 PHF3 c.2323_2324delAA p.K776fs*2 Deletion - Frameshift Kidney COSM1047094 PBRM1 c.1279C>T p.P427S Substitution - Missense Endometrium COSM5687161 TDRD5 c.2545T>A p.C849S Substitution - Missense Soft_tissue COSM4613001 ARID1A c.1108delG p.Q372fs*19 Deletion - Frameshift Large_intestine COSM1324429 GLYR1 c.406G>T p.V136L Substitution - Missense Ovary COSM3842895 BRD1 c.1782G>A p.K594K Substitution - coding silent Breast COSM3787660 DPF1 c.660C>T p.P220P Substitution - coding silent Pancreas COSM3562337 SMC1A c.1461C>T p.A487A Substitution - coding silent Skin COSM1026109 NCOA6 c.535C>A p.P179T Substitution - Missense Endometrium COSM2061643 KDM4D c.972C>T p.F324F Substitution - coding silent Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Biliary_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM5588296 KMT2A c.10840C>T p.L3614F Substitution - Missense Skin COSM5002458 ASH1L c.2859G>T p.R953S Substitution - Missense Pancreas COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM1399854 EPC2 c.200delA p.E70fs*39 Deletion - Frameshift Breast COSM4157329 ZBTB38 c.1883G>A p.S628N Substitution - Missense Thyroid COSM3776945 CHD1 c.4428-2A>G p.? Unknown Urinary_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM1179107 KMT2C c.851G>A p.R284Q Substitution - Missense Prostate COSM4695066 JMJD5 c.570G>A p.P190P Substitution - coding silent Large_intestine COSM3632989 SND1 c.1319G>T p.C440F Substitution - Missense Skin COSM1315879 ASXL3 c.350G>T p.S117I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1663807 RAI1 c.3970G>A p.G1324S Substitution - Missense Kidney COSM13867 EP300 c.4355C>T p.P1452L Substitution - Missense Oesophagus COSM87080 TET2 c.998_998delC p.P333fs*14 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM254612 CHD6 c.1864A>T p.K622* Substitution - Nonsense Urinary_tract COSM4021107 TTF2 c.1194C>T p.A398A Substitution - coding silent Stomach COSM1615672 NCOA5 c.1018C>T p.P340S Substitution - Missense Liver COSM280813 EP300 c.251T>C p.L84S Substitution - Missense Large_intestine COSM3848334 TAF1L c.2195G>A p.G732E Substitution - Missense Breast COSM3296140 MBD5 c.1587A>G p.I529M Substitution - Missense Upper_aerodigestive_tract COSM905242 ACTA1 c.492C>T p.N164N Substitution - coding silent Endometrium COSM4072450 MBD1 c.1036C>T p.R346W Substitution - Missense Stomach COSM5503293 MLL5 c.1434G>A p.M478I Substitution - Missense Biliary_tract COSM3812815 CHD4 c.4665A>C p.A1555A Substitution - coding silent Breast COSM1041698 FXR1 c.1319G>T p.R440I Substitution - Missense Endometrium COSM442678 DNMT3A c.650A>C p.K217T Substitution - Missense Breast COSM966721 CHD2 c.4435G>T p.V1479L Substitution - Missense Endometrium COSM3598860 TET2 c.2284C>T p.H762Y Substitution - Missense Cervix COSM4605247 KMT2C c.3847G>T p.G1283C Substitution - Missense Upper_aerodigestive_tract COSM87141 TET2 c.3954+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM464365 ARID1A c.5882G>A p.S1961N Substitution - Missense Kidney COSM5763025 DAXX c.208-1G>A p.? Unknown Pancreas COSM1215014 MGA c.7333C>T p.R2445* Substitution - Nonsense Large_intestine COSM5716562 MEN1 c.897C>T p.L299L Substitution - coding silent Skin COSM443947 EYA2 c.1110G>A p.V370V Substitution - coding silent Breast COSM2034996 GLYATL1 c.808C>T p.R270* Substitution - Nonsense Large_intestine COSM1606133 ARID2 c.1037C>T p.P346L Substitution - Missense Liver COSM1336717 TDRD5 c.1927G>A p.E643K Substitution - Missense Central_nervous_system COSM3979875 ASH1L c.2092G>A p.E698K Substitution - Missense Ovary COSM1480129 CHD3 c.1219G>C p.D407H Substitution - Missense Breast COSM4561821 BRD1 c.900G>A p.E300E Substitution - coding silent Skin COSM5357593 L3MBTL3 c.992C>A p.P331H Substitution - Missense Large_intestine COSM1577289 ASXL1 c.? p.?fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM1107186 EHMT1 c.3149G>A p.R1050H Substitution - Missense Large_intestine COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1286205 KMT2A c.6772C>A p.Q2258K Substitution - Missense Autonomic_ganglia COSM6002571 MYST2 c.762G>A p.T254T Substitution - coding silent Prostate COSM1457133 MYST3 c.2912G>A p.R971H Substitution - Missense Large_intestine COSM5622599 NCOA6 c.4050A>T p.K1350N Substitution - Missense Oesophagus COSM5343569 ASXL1 c.3514G>A p.A1172T Substitution - Missense Large_intestine COSM5899550 HDAC9 c.2882T>C p.L961P Substitution - Missense Skin COSM1108208 TAF1L c.5286G>T p.E1762D Substitution - Missense Endometrium COSM1253882 GTF3C1 c.625C>G p.L209V Substitution - Missense Oesophagus COSM1184857 BPTF c.6172C>T p.R2058C Substitution - Missense Large_intestine COSM4766103 TET2 c.3489_3489delC p.M1164fs*62 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3291624 CHD6 c.8066G>A p.S2689N Substitution - Missense Large_intestine COSM1258835 NCOA1 c.1538C>T p.S513L Substitution - Missense Skin COSM4765399 HNF1A c.865_866insC p.G292fs*25 Insertion - Frameshift Stomach COSM1644697 KDM6A c.3419G>A p.G1140E Substitution - Missense Stomach COSM25627 KMT2A c.2880A>G p.I960M Substitution - Missense Soft_tissue COSM1227875 STK31 c.2183G>A p.R728Q Substitution - Missense Large_intestine COSM1017581 SP110 c.1779G>T p.K593N Substitution - Missense Endometrium COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5907611 KMT2D c.4253C>T p.P1418L Substitution - Missense Skin COSM4492734 TCF20 c.4028C>T p.P1343L Substitution - Missense Skin COSM3636485 KMT2C c.8579C>A p.S2860* Substitution - Nonsense Skin COSM1220355 PHF2 c.1477A>G p.T493A Substitution - Missense Stomach COSM3590013 PHC3 c.1940C>T p.P647L Substitution - Missense Skin COSM4383546 DNMT3A c.2189delT p.L730fs*49 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3377146 ZMYM4 c.3648C>T p.N1216N Substitution - coding silent Pancreas COSM5916035 DPF2 c.262C>T p.P88S Substitution - Missense Skin COSM330959 BAHD1 c.66C>T p.P22P Substitution - coding silent Lung COSM1204457 DOT1L c.1238G>A p.R413H Substitution - Missense Large_intestine COSM1607784 ARID4A c.3690_3694delCATGT p.M1231fs*>26 Deletion - Frameshift Liver COSM4163695 SMARCA2 c.1345C>A p.Q449K Substitution - Missense Thyroid COSM5410883 PSIP1 c.129C>T p.F43F Substitution - coding silent Skin COSM5482499 ERCC6 c.4349T>C p.I1450T Substitution - Missense Large_intestine COSM1610766 ZBTB4 c.2559A>T p.S853S Substitution - coding silent Liver COSM21475 HNF1A c.436delC p.Q146fs*9 Deletion - Frameshift Liver COSM1049763 TET2 c.4715G>A p.R1572Q Substitution - Missense Endometrium COSM4471916 BRWD3 c.1749C>T p.L583L Substitution - coding silent Skin COSM1602805 MTF2 c.68A>T p.K23M Substitution - Missense Liver COSM4938516 HDAC9 c.1195C>T p.L399L Substitution - coding silent Skin COSM1457139 MYST3 c.1572C>T p.S524S Substitution - coding silent Large_intestine COSM171921 KAT2B c.2044C>T p.R682* Substitution - Nonsense Large_intestine COSM1698425 STK31 c.2119C>T p.H707Y Substitution - Missense Skin COSM4641258 ACTL6B c.22G>A p.G8R Substitution - Missense Large_intestine COSM1034755 TCF20 c.5243A>C p.K1748T Substitution - Missense Endometrium COSM3095805 TAF1 c.3587G>A p.R1196H Substitution - Missense Large_intestine COSM35408 KAT6B c.3291A>G p.E1097E Substitution - coding silent Central_nervous_system COSM1681379 SUV420H2 c.56C>A p.T19N Substitution - Missense Large_intestine COSM4410607 SETD2 c.3457_3458insGAAG p.V1153fs*11 Insertion - Frameshift Kidney COSM1039204 ZBTB38 c.2451C>T p.T817T Substitution - coding silent Endometrium COSM1122958 KDM5C c.1737T>C p.H579H Substitution - coding silent Endometrium COSM4460446 PRDM9 c.1166C>T p.P389L Substitution - Missense Liver COSM3708643 HDAC6 c.3132A>G p.I1044M Substitution - Missense Liver COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3212723 GTF3C4 c.2225C>G p.T742S Substitution - Missense Central_nervous_system COSM4384781 KDM2B c.2098G>A p.A700T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4611662 PHF14 c.540delA p.K182fs*19 Deletion - Frameshift Large_intestine COSM5962073 ORC1 c.2308T>C p.S770P Substitution - Missense Breast COSM1478479 CHD2 c.3752G>A p.R1251H Substitution - Missense Breast COSM29152 KDM6A c.3209+3delAAGTCATT p.? Unknown Kidney COSM1716807 TET2 c.? p.Q1547* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5637364 BAZ1A c.2720C>G p.A907G Substitution - Missense Oesophagus COSM4653755 TET2 c.3641G>A p.R1214Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3933600 NCOA1 c.1221A>C p.P407P Substitution - coding silent Urinary_tract COSM2966616 HDAC6 c.3203C>T p.S1068F Substitution - Missense Oesophagus COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4694054 MYST3 c.3946G>A p.A1316T Substitution - Missense Large_intestine COSM3525418 ASXL3 c.492G>A p.E164E Substitution - coding silent Skin COSM3706056 RERE c.2349G>T p.Q783H Substitution - Missense Liver COSM3750309 PRDM2 c.3070T>A p.S1024T Substitution - Missense Large_intestine COSM3464386 CHD4 c.2481C>T p.A827A Substitution - coding silent Skin COSM961512 MGA c.4010A>G p.E1337G Substitution - Missense Endometrium COSM4944242 DHX30 c.2504T>G p.F835C Substitution - Missense Liver COSM464549 MEAF6 c.219C>T p.S73S Substitution - coding silent Kidney COSM5705395 EYA3 c.829C>A p.Q277K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM241569 SETBP1 c.1589G>A p.R530Q Substitution - Missense Urinary_tract COSM276284 NCOA6 c.6056G>A p.R2019Q Substitution - Missense Large_intestine COSM5944297 EZH2 c.1773_1777delTACTT p.T592fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM140375 SETDB1 c.1606G>T p.A536S Substitution - Missense Skin COSM1678378 INOC1 c.887A>C p.K296T Substitution - Missense Large_intestine COSM3548825 DIDO1 c.88C>T p.R30* Substitution - Nonsense Skin COSM5393004 AIRE c.1554C>T p.S518S Substitution - coding silent Skin COSM3853968 NSD1 c.5005C>T p.H1669Y Substitution - Missense Stomach COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM438690 MUM1 c.1587C>G p.V529V Substitution - coding silent Liver COSM3365277 ACTR8 c.31A>G p.N11D Substitution - Missense Kidney COSM3816033 MGA c.7191G>A p.E2397E Substitution - coding silent Breast COSM3359033 KMT2A c.8435C>A p.T2812K Substitution - Missense Kidney COSM99132 PRDM1 c.1794+2T>A p.V599fs Unknown Haematopoietic_and_lymphoid_tissue COSM3675005 TRRAP c.7224-1G>T p.? Unknown Prostate COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5619799 ACTB c.293C>T p.P98L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5883919 PRDM5 c.1826A>C p.K609T Substitution - Missense Large_intestine COSM485095 KMT2C c.3309T>A p.C1103* Substitution - Nonsense Soft_tissue COSM5971395 INOC1 c.664T>A p.L222M Substitution - Missense Upper_aerodigestive_tract COSM235194 PHF21B c.1350G>A p.R450R Substitution - coding silent Skin COSM4639484 EPC2 c.980C>A p.A327D Substitution - Missense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM273289 SP110 c.1611C>T p.C537C Substitution - coding silent Large_intestine COSM1447275 PHF14 c.1427G>C p.G476A Substitution - Missense Large_intestine COSM4162016 KMT2C c.2352C>A p.S784S Substitution - coding silent Upper_aerodigestive_tract COSM5467723 UHRF2 c.245G>A p.G82D Substitution - Missense Large_intestine COSM1978043 PRDM10 c.978C>T p.A326A Substitution - coding silent Bone COSM3719982 PHIP c.1606G>T p.G536* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5945717 ATRX c.? p.E935* Substitution - Nonsense Central_nervous_system COSM1169519 KDM5C c.227A>G p.E76G Substitution - Missense Kidney COSM4769624 SMC1A c.567G>C p.K189N Substitution - Missense Biliary_tract COSM3817965 CREBBP c.578C>G p.S193C Substitution - Missense Breast COSM4575253 ATF7IP c.2737A>C p.I913L Substitution - Missense Bone COSM5446258 SIRT1 c.427_428insC p.R143fs*3 Insertion - Frameshift Thyroid COSM5772369 L3MBTL4 c.400C>T p.P134S Substitution - Missense Breast COSM5051074 KDM2A c.43C>T p.R15C Substitution - Missense Stomach COSM138553 RING1 c.406G>A p.A136T Substitution - Missense Skin COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Bone COSM5375816 CHD4 c.3261A>G p.E1087E Substitution - coding silent Skin COSM5018570 WHSC1L1 c.1859C>G p.S620W Substitution - Missense Soft_tissue COSM41742 TET2 c.5152G>T p.V1718L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5223824 NCOR1 c.5882-2delA p.? Unknown Breast COSM5033021 SETD1B c.784C>T p.R262W Substitution - Missense Oesophagus COSM3733471 KMT2D c.7645C>T p.Q2549* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5417712 MGA c.3797delA p.Q1266fs*25 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1718171 BRPF1 c.1971C>T p.V657V Substitution - coding silent Skin COSM2965385 KDM6A c.2264C>T p.T755M Substitution - Missense Upper_aerodigestive_tract COSM1360187 EP400 c.8184G>A p.Q2728Q Substitution - coding silent Large_intestine COSM452728 KMT2C c.2379G>A p.S793S Substitution - coding silent Central_nervous_system COSM1360187 EP400 c.8184G>A p.Q2728Q Substitution - coding silent Liver COSM1218900 ORC1 c.613G>A p.A205T Substitution - Missense Large_intestine COSM1341908 PHC2 c.1398G>T p.Q466H Substitution - Missense Large_intestine COSM221505 CREBBP c.3310C>T p.Q1104* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4839529 BRD3 c.468T>C p.G156G Substitution - coding silent Cervix COSM217148 CHD3 c.5323C>G p.P1775A Substitution - Missense Liver COSM757634 TAF1 c.4761T>A p.S1587R Substitution - Missense Lung COSM4085338 MBD5 c.83G>A p.R28H Substitution - Missense Stomach COSM745833 KMT2C c.1086T>A p.C362* Substitution - Nonsense Lung COSM2950003 BRPF1 c.1011C>T p.G337G Substitution - coding silent Stomach COSM608358 TAF1L c.3239G>A p.R1080H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1754848 TDRD6 c.4165G>C p.D1389H Substitution - Missense Urinary_tract COSM3322590 PHF19 c.1199T>G p.L400R Substitution - Missense Large_intestine COSM5782236 SIRT6 c.234G>A p.L78L Substitution - coding silent Breast COSM2270958 DNMT3A c.? p.?* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5584060 SFMBT2 c.767C>A p.P256H Substitution - Missense Skin COSM5646674 SRCAP c.3854C>T p.A1285V Substitution - Missense Oesophagus COSM693639 KMT2D c.400+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1180918 ASXL1 c.1927delG p.G645fs*58 Deletion - Frameshift Large_intestine COSM2149056 JHDM1D c.938G>A p.R313H Substitution - Missense Central_nervous_system COSM5962906 BMI1 c.839A>C p.Q280P Substitution - Missense Breast COSM4856663 TDRD1 c.46G>A p.E16K Substitution - Missense Cervix COSM732047 TET2 c.324G>A p.Q108Q Substitution - coding silent Lung COSM754465 MSL3 c.1057C>T p.R353C Substitution - Missense Lung COSM1616090 PRDM15 c.4470G>A p.A1490A Substitution - coding silent Liver COSM173599 MYST3 c.4222G>A p.E1408K Substitution - Missense Large_intestine COSM5391022 TRIM28 c.1569A>C p.E523D Substitution - Missense Skin COSM1116470 FMR1 c.1324C>T p.R442* Substitution - Nonsense Endometrium COSM5477643 ASH1L c.854A>C p.K285T Substitution - Missense Large_intestine COSM27189 EP300 c.5850G>T p.R1950S Substitution - Missense Lung COSM2160419 SFMBT2 c.1857T>C p.S619S Substitution - coding silent Large_intestine COSM4458576 TRRAP c.10813C>T p.L3605F Substitution - Missense Skin COSM5895741 PRMT10 c.1277C>T p.P426L Substitution - Missense Skin COSM2911501 NCOA1 c.4164A>G p.Q1388Q Substitution - coding silent Upper_aerodigestive_tract COSM384684 PHF14 c.723T>C p.D241D Substitution - coding silent Lung COSM1615837 DIDO1 c.128C>T p.A43V Substitution - Missense Liver COSM5982480 GATAD2B c.1614G>A p.Q538Q Substitution - coding silent Upper_aerodigestive_tract COSM4417547 BRDT c.184C>A p.Q62K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1026875 CHD6 c.2745C>T p.R915R Substitution - coding silent Endometrium COSM1091568 BAZ1B c.1250C>T p.S417F Substitution - Missense Endometrium COSM80622 TDRD6 c.3126C>G p.A1042A Substitution - coding silent Ovary COSM4157030 BRWD3 c.148G>C p.G50R Substitution - Missense Thyroid COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM211732 TET2 c.4188C>G p.C1396W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4097607 DNMT3B c.1754C>T p.A585V Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4767749 SETD2 c.3183G>C p.L1061F Substitution - Missense Biliary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM150037 CDYL c.25T>C p.S9P Substitution - Missense Biliary_tract COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM2777617 KIAA2026_ENST00000399933 c.1116G>A p.A372A Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5365559 KDM4B c.1835G>A p.R612H Substitution - Missense Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3296316 EPC2 c.2223A>T p.P741P Substitution - coding silent Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1109476 KIAA2026_ENST00000399933 c.1720C>T p.R574C Substitution - Missense Endometrium COSM1196491 ARID2 c.1354A>G p.M452V Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM78628 TET1 c.4513C>T p.R1505C Substitution - Missense Ovary COSM1377458 SRCAP c.554G>T p.R185M Substitution - Missense Large_intestine COSM1109471 KIAA2026_ENST00000399933 c.2265A>G p.I755M Substitution - Missense Endometrium COSM302137 EP400 c.8181A>G p.Q2727Q Substitution - coding silent Kidney COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3736164 HDAC5 c.1779C>G p.D593E Substitution - Missense Breast COSM1581238 KMT2C c.8605T>A p.S2869T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1356499 SUV420H1 c.2158_2159delCT p.L720fs*2 Deletion - Frameshift Large_intestine COSM4956255 KDM6B c.3818C>T p.S1273F Substitution - Missense Liver COSM751033 CHD7 c.8450A>T p.N2817I Substitution - Missense Lung COSM4956210 PHF15 c.1756C>T p.R586* Substitution - Nonsense Liver COSM5802596 DIDO1 c.5234delG p.G1745fs*119 Deletion - Frameshift Breast COSM1671034 CLOCK c.1662A>T p.Q554H Substitution - Missense Large_intestine COSM4170631 ARID1A c.313delG p.N106fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1463736 PHF2 c.2850_2851insAA p.S954fs*7 Insertion - Frameshift Large_intestine COSM233184 PRMT8 c.903C>A p.N301K Substitution - Missense Skin COSM5725917 CHD4 c.3801C>T p.D1267D Substitution - coding silent Skin COSM4387474 EP300 c.4534_4536delGTT p.V1512del Deletion - In frame Oesophagus COSM5748877 BAZ2B c.1291C>T p.R431W Substitution - Missense Pancreas COSM1044880 SETMAR c.1517G>A p.R506Q Substitution - Missense Endometrium COSM5748877 BAZ2B c.1291C>T p.R431W Substitution - Missense Pancreas COSM5466164 GABRG1 c.759C>T p.I253I Substitution - coding silent Large_intestine COSM753850 PHF2 c.2730C>T p.V910V Substitution - coding silent Skin COSM907740 ARID1A c.5385G>C p.K1795N Substitution - Missense Endometrium COSM5692395 PCGF6 c.274G>A p.E92K Substitution - Missense Soft_tissue COSM4913359 KDM5A c.1476C>G p.I492M Substitution - Missense Liver COSM13342 MSH6 c.3495C>T p.C1165C Substitution - coding silent Central_nervous_system COSM725157 BRWD1 c.5614G>C p.D1872H Substitution - Missense Lung COSM3704780 PRMT6 c.205G>T p.G69W Substitution - Missense Liver COSM5452349 TDRD6 c.1941C>T p.D647D Substitution - coding silent Large_intestine COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM24907 HNF1A c.391C>T p.R131W Substitution - Missense Stomach COSM25195 PHF10 c.107G>C p.R36T Substitution - Missense Urinary_tract COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM84646 ATF2 c.314A>C p.K105T Substitution - Missense Pancreas COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM77940 KDM2A c.667C>T p.H223Y Substitution - Missense Ovary COSM107494 TRRAP c.2165C>T p.S722F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96380 ASXL1 c.2407C>T p.Q803* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM112121 PRDM2 c.2104_2105insCTC p.P703_A704insP Insertion - In frame Upper_aerodigestive_tract COSM140953 TRIM33 c.2155C>T p.P719S Substitution - Missense Upper_aerodigestive_tract COSM195246 TAF1 c.1024C>T p.R342C Substitution - Missense Endometrium COSM212400 NIPBL c.5366G>T p.R1789L Substitution - Missense Breast COSM221802 RNF17 c.908G>A p.G303E Substitution - Missense Skin COSM245707 KMT2D c.14548C>T p.R4850C Substitution - Missense Large_intestine COSM245966 NCOA3 c.3756G>A p.Q1252Q Substitution - coding silent Oesophagus COSM254625 CREBBP c.4336C>G p.R1446G Substitution - Missense Urinary_tract COSM255658 KDM6A c.3434G>A p.G1145D Substitution - Missense Central_nervous_system COSM284916 SETBP1 c.4393G>A p.D1465N Substitution - Missense Large_intestine COSM279874 CHD6 c.5468T>G p.F1823C Substitution - Missense Large_intestine COSM291629 SMARCD3 c.514C>T p.R172W Substitution - Missense Large_intestine COSM312013 INTS12 c.191delA p.N64fs*29 Deletion - Frameshift Lung COSM312112 KDM4A c.1303G>A p.A435T Substitution - Missense Large_intestine COSM307766 ASXL1 c.2242C>T p.Q748* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM325926 NCOA7 c.159C>A p.D53E Substitution - Missense Lung COSM338355 PRDM9 c.1068G>T p.W356C Substitution - Missense Lung COSM388130 SMARCC2 c.1563C>G p.T521T Substitution - coding silent Lung COSM460002 DOT1L c.4317C>T p.L1439L Substitution - coding silent Cervix COSM452422 TIF1 c.652C>T p.Q218* Substitution - Nonsense Breast COSM467600 KDM4D c.1449T>A p.A483A Substitution - coding silent Kidney COSM486418 ASH2L c.402-1G>T p.? Unknown Kidney COSM693901 ARID2 c.3592C>G p.P1198A Substitution - Missense Lung COSM1054443 WHSC1 c.3192G>T p.E1064D Substitution - Missense Endometrium COSM1026312 PHF20 c.2333G>A p.C778Y Substitution - Missense Endometrium COSM1021265 MSH6 c.1118T>C p.L373P Substitution - Missense Endometrium COSM1692243 HDAC4 c.2432G>T p.G811V Substitution - Missense Skin COSM907722 ARID1A c.3991C>T p.Q1331* Substitution - Nonsense Endometrium COSM930501 KAT5 c.1456G>A p.E486K Substitution - Missense Prostate COSM908685 ZMYM4 c.4237A>G p.T1413A Substitution - Missense Endometrium COSM996178 SIRT2 c.951C>T p.D317D Substitution - coding silent Endometrium COSM1034526 EP300 c.1796C>A p.A599D Substitution - Missense Endometrium COSM961968 TP53BP1 c.5455C>T p.L1819F Substitution - Missense Endometrium COSM1087533 KMT2C c.11979T>C p.G3993G Substitution - coding silent Endometrium COSM1083688 MLL5 c.3962T>G p.L1321R Substitution - Missense Endometrium COSM1080954 PHF3 c.2809G>T p.D937Y Substitution - Missense Endometrium COSM1079885 TDRD6 c.1714C>T p.R572* Substitution - Nonsense Endometrium COSM1180829 CREBBP c.3250delA p.I1084fs*15 Deletion - Frameshift Stomach COSM1180905 HDAC4 c.2703delC p.M902fs*55 Deletion - Frameshift Large_intestine COSM1184477 BAZ1B c.4355G>T p.R1452M Substitution - Missense Large_intestine COSM1211750 KDM4D c.386G>A p.R129H Substitution - Missense Large_intestine COSM1605866 ATF7IP c.3326A>G p.N1109S Substitution - Missense Liver COSM1287369 PRDM9 c.209G>T p.R70L Substitution - Missense Autonomic_ganglia COSM1416933 BRD1 c.2609C>T p.A870V Substitution - Missense Large_intestine COSM1462650 KIAA2026_ENST00000399933 c.2187delA p.A730fs*26 Deletion - Frameshift Large_intestine COSM1462650 KIAA2026_ENST00000399933 c.2187delA p.A730fs*26 Deletion - Frameshift Large_intestine COSM1465096 MSL3 c.308G>A p.R103H Substitution - Missense Large_intestine COSM1447014 MLL5 c.3125C>A p.P1042H Substitution - Missense Large_intestine COSM1475828 SUV420H1 c.2482G>A p.D828N Substitution - Missense Breast COSM1482942 HDAC4 c.2238C>A p.F746L Substitution - Missense Breast COSM1469580 BRWD3 c.5116G>C p.G1706R Substitution - Missense Large_intestine COSM1493489 PYGO1 c.105A>G p.P35P Substitution - coding silent Kidney COSM1611154 AP001011.3_ENST00000320876 c.2507G>A p.R836H Substitution - Missense Liver COSM1616201 PRMT2 c.833C>A p.S278Y Substitution - Missense Liver COSM1583070 DNMT3A c.1531G>A p.G511R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1623357 TRRAP c.6768C>T p.I2256I Substitution - coding silent Liver COSM1635515 TRRAP c.6919A>G p.M2307V Substitution - Missense Liver COSM2007459 KMT2D c.661delG p.A221fs*40 Deletion - Frameshift Breast COSM2152322 BRDT c.2819C>A p.T940K Substitution - Missense Central_nervous_system COSM2152837 SIRT3 c.516T>G p.D172E Substitution - Missense Central_nervous_system COSM2140940 CHD2 c.3602G>C p.G1201A Substitution - Missense Oesophagus COSM2098605 CHD4 c.1542A>G p.P514P Substitution - coding silent Liver COSM2949955 BRPF1 c.24G>C p.K8N Substitution - Missense Lung COSM3160344 PHF3 c.6064A>G p.R2022G Substitution - Missense Large_intestine COSM3385269 HDGF c.553T>C p.L185L Substitution - coding silent Pancreas COSM3500994 INOC1 c.4548C>T p.S1516S Substitution - coding silent Skin COSM3443983 KMT2A c.6728T>C p.V2243A Substitution - Missense Skin COSM3629184 PHF3 c.5468T>G p.F1823C Substitution - Missense Skin COSM3619171 PRDM1 c.400G>A p.E134K Substitution - Missense Skin COSM3602819 WHSC1 c.960C>T p.A320A Substitution - coding silent Skin COSM3525428 ASXL3 c.871C>T p.P291S Substitution - Missense Skin COSM3528091 DNMT1 c.4396C>T p.R1466C Substitution - Missense Skin COSM3691027 GLYR1 c.859C>A p.L287I Substitution - Missense Large_intestine COSM3666442 PHRF1 c.662C>T p.P221L Substitution - Missense Liver COSM3733291 KMT2D c.7643G>A p.W2548* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3733738 SMYD4 c.1736G>A p.R579Q Substitution - Missense Pancreas COSM3736917 NIPBL c.2021A>G p.N674S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3756115 AP001011.3_ENST00000320876 c.4137A>G p.A1379A Substitution - coding silent Large_intestine COSM3783954 ARID1B c.6354G>A p.S2118S Substitution - coding silent Prostate COSM3790980 TAF3 c.2694G>T p.M898I Substitution - Missense Urinary_tract COSM3863725 TDRD5 c.575G>A p.R192K Substitution - Missense Skin COSM3943115 PHF2 c.3274G>A p.G1092R Substitution - Missense Oesophagus COSM3871640 ARID2 c.1917C>T p.I639I Substitution - coding silent Skin COSM3964369 TCF20 c.5320C>T p.Q1774* Substitution - Nonsense Lung COSM3979635 ALKBH3 c.238A>C p.I80L Substitution - Missense Lung COSM3979874 ASH1L c.6383G>A p.C2128Y Substitution - Missense Ovary COSM4005294 MECOM c.187G>A p.E63K Substitution - Missense Skin COSM4115539 FXR1 c.650C>T p.A217V Substitution - Missense Stomach COSM4074993 BRD4 c.190C>T p.Q64* Substitution - Nonsense Stomach COSM4137517 BRD1 c.2925G>A p.G975G Substitution - coding silent Ovary COSM4170053 TET2 c.4954C>T p.Q1652* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4187158 SMARCC2 c.2186C>T p.A729V Substitution - Missense Kidney COSM4385569 TET2 c.1678_1679insT p.K561fs*6 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4384596 KMT2A c.4769A>G p.K1590R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4445165 NCOA2 c.2837G>A p.R946Q Substitution - Missense Large_intestine COSM4443628 TDRKH c.699G>T p.E233D Substitution - Missense Large_intestine COSM4455742 EP400 c.8824A>C p.K2942Q Substitution - Missense Skin COSM4423328 PHF19 c.19G>C p.D7H Substitution - Missense Central_nervous_system COSM4666197 BRPF1 c.2749C>G p.P917A Substitution - Missense Large_intestine COSM4689663 HDAC10 c.847G>A p.A283T Substitution - Missense Large_intestine COSM4741196 WHSC1 c.395A>G p.Y132C Substitution - Missense Large_intestine COSM4742772 ZGPAT c.1541G>A p.G514D Substitution - Missense Large_intestine COSM4612317 KMT2D c.6515_6516insC p.R2173fs*6 Insertion - Frameshift Large_intestine COSM4748603 WHSC1 c.2671T>G p.Y891D Substitution - Missense Stomach COSM4752628 KIAA1045 c.1015A>G p.S339G Substitution - Missense Stomach COSM4804483 ARID2 c.3790G>T p.E1264* Substitution - Nonsense Liver COSM4791991 PHF15 c.838C>G p.L280V Substitution - Missense Liver COSM4796453 DOT1L c.907G>A p.V303M Substitution - Missense Liver COSM4801428 HNF1A c.12A>G p.K4K Substitution - coding silent Liver COSM4779229 HDAC2 c.758A>G p.Y253C Substitution - Missense Liver COSM4960087 WHSC1 c.66G>A p.K22K Substitution - coding silent Liver COSM4956739 TDRD5 c.356G>T p.R119L Substitution - Missense Liver COSM5060395 CLOCK c.1875_1877delACA p.Q626delQ Deletion - In frame Biliary_tract COSM5348269 C5orf35 c.247delA p.K83fs*15 Deletion - Frameshift Liver COSM5343593 CHD6 c.7488G>A p.V2496V Substitution - coding silent Large_intestine COSM5342319 PRDM16 c.2228G>A p.R743Q Substitution - Missense Large_intestine COSM5405869 PHIP c.3877C>T p.P1293S Substitution - Missense Skin COSM5387936 AP001011.3_ENST00000320876 c.4245G>A p.W1415* Substitution - Nonsense Skin COSM5373884 KDM4D c.1136C>T p.S379F Substitution - Missense Skin COSM5374395 HNF1A c.1310-2A>G p.? Unknown Skin COSM5461922 KMT2A c.6367G>A p.D2123N Substitution - Missense Large_intestine COSM5446092 ATXN7 c.118_119insAGCAGC p.Q39_P40insQQ Insertion - In frame Thyroid COSM5638587 PHF13 c.753G>T p.E251D Substitution - Missense Oesophagus COSM5642369 NCOR1 c.2589T>A p.A863A Substitution - coding silent Oesophagus COSM5627596 PRDM16 c.306G>A p.R102R Substitution - coding silent Oesophagus COSM5639790 DIDO1 c.5973A>G p.G1991G Substitution - coding silent Oesophagus COSM5635829 BRD3 c.1833C>T p.P611P Substitution - coding silent Oesophagus COSM5760336 PHF23 c.544G>C p.D182H Substitution - Missense Bone COSM5722205 ARID4A c.493G>C p.E165Q Substitution - Missense Skin COSM5729906 TDG c.751G>T p.E251* Substitution - Nonsense Skin COSM5582595 SP110 c.1976G>A p.W659* Substitution - Nonsense Skin COSM5589792 BAZ2A_ENST00000379441 c.581C>T p.P194L Substitution - Missense Skin COSM5694618 SMARCC2 c.1431C>T p.P477P Substitution - coding silent Soft_tissue COSM5677961 PRDM14 c.198G>A p.M66I Substitution - Missense Soft_tissue COSM5549257 SND1 c.742G>T p.A248S Substitution - Missense Prostate COSM5945146 KMT2C c.3940C>T p.Q1314* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5938952 SMYD1 c.853G>A p.D285N Substitution - Missense Skin COSM5886923 MYST1 c.478G>A p.D160N Substitution - Missense Skin COSM5892682 ZMYM4 c.1588C>T p.P530S Substitution - Missense Skin COSM5927313 ZBTB38 c.857C>T p.P286L Substitution - Missense Skin COSM5938467 ATRX c.2080C>T p.P694S Substitution - Missense Skin COSM5905148 BRWD3 c.1876+2T>C p.? Unknown Skin COSM5928983 SND1 c.974T>A p.I325K Substitution - Missense Skin COSM5955122 HDAC1 c.543C>T p.D181D Substitution - coding silent Upper_aerodigestive_tract COSM5982786 KDM6A c.3565C>T p.L1189L Substitution - coding silent Upper_aerodigestive_tract COSM6000209 ATF7IP c.642G>A p.P214P Substitution - coding silent Prostate COSM6004501 CHD6 c.4792T>C p.C1598R Substitution - Missense Prostate COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51384 IDH1 c.? p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5880326 ATRX c.? p.H2254R Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1666676 SETBP1 c.? p.I871T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5347196 ARID1A c.?_?del? p.F1606fs*? Deletion - Frameshift Endometrium COSM5686822 HDAC9 c.2893T>A p.C965S Substitution - Missense Soft_tissue COSM1568884 BAZ1B c.2242A>T p.I748F Substitution - Missense Large_intestine COSM1733880 DOT1L c.1027C>T p.R343C Substitution - Missense Pancreas COSM3801843 TDRKH c.196C>T p.L66F Substitution - Missense Breast COSM1167951 ARID2 c.2611C>T p.Q871* Substitution - Nonsense Skin COSM1101 SMARCB1 c.?_?del? p.?del Deletion - In frame Soft_tissue COSM1087548 KMT2C c.10368C>T p.S3456S Substitution - coding silent Endometrium COSM4949622 ARID1A c.5506G>T p.E1836* Substitution - Nonsense Liver COSM314668 RAG2 c.1496delA p.K499fs*4 Deletion - Frameshift Stomach COSM122851 EP300 c.4195G>A p.D1399N Substitution - Missense Urinary_tract COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM5553889 ADNP c.2890G>C p.E964Q Substitution - Missense Prostate COSM458597 TDRKH c.1501G>C p.E501Q Substitution - Missense Cervix COSM1122925 KDM5C c.4255A>G p.I1419V Substitution - Missense Endometrium COSM3621300 SHPRH c.1906C>T p.L636L Substitution - coding silent Skin COSM2006976 KMT2D c.8455delG p.V2819fs*30 Deletion - Frameshift Soft_tissue COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Skin COSM1239337 LMNB1 c.939+2T>C p.? Unknown Oesophagus COSM3594673 SETD2 c.3109T>C p.S1037P Substitution - Missense Kidney COSM3685189 ACTB c.124-1G>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51518 IDH1 c.298C>T p.R100* Substitution - Nonsense Large_intestine COSM937148 EP400 c.2429G>A p.R810H Substitution - Missense Endometrium COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM237193 CHD3 c.1494C>T p.P498P Substitution - coding silent Prostate COSM1028969 DIDO1 c.5190C>T p.G1730G Substitution - coding silent Endometrium COSM4187934 PBRM1 c.3123+2delT p.? Unknown Kidney COSM5781406 NCOA7 c.886G>T p.D296Y Substitution - Missense Breast COSM1122151 SUV39H1 c.448G>A p.E150K Substitution - Missense Endometrium COSM3395976 JMJD1C c.1935G>T p.W645C Substitution - Missense Prostate COSM1716789 TET2 c.2440C>T p.R814C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM211894 BRD9 c.299A>G p.N100S Substitution - Missense Breast COSM4792846 SUV420H1 c.1587G>C p.G529G Substitution - coding silent Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM1741625 MBD4 c.1139C>G p.S380C Substitution - Missense Urinary_tract COSM730711 SETD2 c.3365G>A p.R1122H Substitution - Missense Kidney COSM5821533 ORC1 c.1187+1G>T p.? Unknown Liver COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM4133863 MSH6 c.276A>G p.P92P Substitution - coding silent Thyroid COSM4691738 IDH1 c.975G>A p.T325T Substitution - coding silent Large_intestine COSM1215212 MLL5 c.1225C>T p.R409W Substitution - Missense Large_intestine COSM970536 CREBBP c.7089G>A p.P2363P Substitution - coding silent Large_intestine COSM1717669 DNMT3A c.1154delC p.P385fs*22 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1717704 KDM5C c.4231G>A p.V1411M Substitution - Missense Adrenal_gland COSM3812164 KMT2D c.1884A>C p.P628P Substitution - coding silent Breast COSM4113229 RUVBL1 c.1132C>T p.R378C Substitution - Missense Stomach COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1213489 LMNB1 c.468A>C p.K156N Substitution - Missense Large_intestine COSM2210629 ASH1L c.8174A>G p.H2725R Substitution - Missense Large_intestine COSM4423136 ATRX c.4745_4748delCAAA p.T1582fs*23 Deletion - Frameshift Central_nervous_system COSM1448543 JHDM1D c.936A>T p.A312A Substitution - coding silent Large_intestine COSM908422 PHC2 c.2449C>T p.R817C Substitution - Missense Endometrium COSM961523 MGA c.5877A>G p.Q1959Q Substitution - coding silent Endometrium COSM265395 ATAT1 c.936_937insG p.S315fs*>10 Insertion - Frameshift Large_intestine COSM127403 ATRX c.1509A>G p.Q503Q Substitution - coding silent Upper_aerodigestive_tract COSM5591818 MECOM c.1525C>T p.L509F Substitution - Missense Skin COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Large_intestine COSM5697036 PRMT1 c.839-2A>T p.? Unknown Soft_tissue COSM453961 ATAD2 c.1857A>G p.P619P Substitution - coding silent Breast COSM4002744 PBRM1 c.4335A>G p.P1445P Substitution - coding silent Soft_tissue COSM5346909 ARID1A c.5628_5638del11 p.P1878fs*19 Deletion - Frameshift Endometrium COSM4942269 PHF8 c.2306C>T p.P769L Substitution - Missense Liver COSM5802160 ZCWPW2 c.223_225delGAA p.E76delE Deletion - In frame Breast COSM251160 TBL1XR1 c.832G>A p.G278R Substitution - Missense Liver COSM3594677 SETD2 c.2480C>T p.S827F Substitution - Missense Skin COSM5921211 PHF23 c.334C>T p.P112S Substitution - Missense Skin COSM4740048 UTY c.3029A>G p.N1010S Substitution - Missense Large_intestine COSM999079 UHRF1 c.385G>A p.E129K Substitution - Missense Endometrium COSM52002 TET2 c.? p.N1156fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM435579 PRMT7 c.1730C>G p.P577R Substitution - Missense Breast COSM1173275 MLL5 c.4406C>G p.P1469R Substitution - Missense Oesophagus COSM1222114 PRMT5 c.1150C>T p.R384W Substitution - Missense Large_intestine COSM3919892 PRDM9 c.2054C>G p.T685R Substitution - Missense Bone COSM5804013 SRCAP c.8848A>T p.I2950F Substitution - Missense Liver COSM1622398 TIF1 c.2008G>A p.A670T Substitution - Missense Liver COSM2001132 EP400 c.6969T>C p.A2323A Substitution - coding silent Large_intestine COSM3710287 PRDM2 c.5074G>A p.A1692T Substitution - Missense Upper_aerodigestive_tract COSM4596479 BAHCC1 c.5240A>C p.N1747T Substitution - Missense Upper_aerodigestive_tract COSM1066293 NSD1 c.5957G>A p.R1986H Substitution - Missense Endometrium COSM4050620 BAZ1A c.3854G>A p.R1285H Substitution - Missense Stomach COSM215537 KMT2D c.10845_10846insC p.Q3616fs*126 Insertion - Frameshift Central_nervous_system COSM1381134 NCOR1 c.2273A>G p.E758G Substitution - Missense Large_intestine COSM3669152 SETD2 c.411T>C p.F137F Substitution - coding silent Liver COSM97164 PRDM1 c.111_111C>GG p.T39fs*22 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM5415900 TET2 c.? p.I1105fs Frameshift Haematopoietic_and_lymphoid_tissue COSM5640123 RERE c.3467G>A p.G1156E Substitution - Missense Oesophagus COSM303184 SETD2 c.1625C>A p.S542* Substitution - Nonsense Central_nervous_system COSM1360168 EP400 c.1819C>T p.P607S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM294570 MORF4L1 c.614C>T p.P205L Substitution - Missense Large_intestine COSM1563870 PCGF2 c.191G>A p.R64Q Substitution - Missense Prostate COSM3447092 RAG2 c.877G>A p.E293K Substitution - Missense Skin COSM24925 HNF1A c.747_764del18 p.Q250_G255delQAQGLG Deletion - In frame Liver COSM3113040 SRCAP c.8692C>T p.P2898S Substitution - Missense Large_intestine COSM5362002 KMT2D c.3704C>G p.P1235R Substitution - Missense Large_intestine COSM5715695 SETD2 c.5092G>C p.A1698P Substitution - Missense Skin COSM3729518 GLYATL1 c.202G>A p.G68R Substitution - Missense Soft_tissue COSM4991535 EP300 c.4602C>T p.S1534S Substitution - coding silent Skin COSM3976197 ASH1L c.4291C>T p.H1431Y Substitution - Missense Lung COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1241576 PHF2 c.159T>C p.C53C Substitution - coding silent Oesophagus COSM4447653 BAHCC1 c.7257C>T p.A2419A Substitution - coding silent Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4766172 TET2 c.2578C>T p.Q860* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM277402 SMYD3 c.167G>T p.G56V Substitution - Missense Large_intestine COSM3615186 PRDM9 c.133G>A p.D45N Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1615520 PHF20 c.742A>T p.S248C Substitution - Missense Liver COSM4046671 RNF17 c.1126T>G p.F376V Substitution - Missense Stomach COSM3555273 PHF21B c.524G>A p.S175N Substitution - Missense Skin COSM76005 POGZ c.703C>G p.L235V Substitution - Missense Ovary COSM1236530 TDRD10 c.151C>A p.L51M Substitution - Missense Autonomic_ganglia COSM1602805 MTF2 c.68A>T p.K23M Substitution - Missense Liver COSM5665232 GABRG1 c.222C>G p.G74G Substitution - coding silent Soft_tissue COSM5751973 PHF6 c.375-1G>AG p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4730573 STK31 c.3003G>T p.E1001D Substitution - Missense Large_intestine COSM5717798 TP53BP1 c.4050C>T p.A1350A Substitution - coding silent Skin COSM5878957 TET2 c.1696G>T p.E566* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM3747935 AICDA c.431A>T p.Y144F Substitution - Missense Central_nervous_system COSM356743 EP400 c.8223G>A p.Q2741Q Substitution - coding silent Prostate COSM1180697 PYGO2 c.448delC p.Q150fs*11 Deletion - Frameshift Stomach COSM4753949 TP53BP1 c.5417C>T p.A1806V Substitution - Missense Stomach COSM5715604 BRPF3 c.3343C>T p.P1115S Substitution - Missense Skin COSM3731918 PYGO1 c.50-5_50-3delTTT p.? Unknown Large_intestine COSM479510 ZBTB38 c.1816C>T p.Q606* Substitution - Nonsense Kidney COSM3695547 SMEK2 c.1471A>G p.N491D Substitution - Missense Large_intestine COSM971436 CHD9 c.7855C>T p.L2619F Substitution - Missense Endometrium COSM1426213 TET2 c.3108C>T p.H1036H Substitution - coding silent Large_intestine COSM4953478 KDM3B c.5163G>T p.R1721S Substitution - Missense Liver COSM4022287 TDRKH c.208C>T p.R70W Substitution - Missense Stomach COSM1666080 TET2 c.3202_3203insA p.T1069fs*7 Insertion - Frameshift Kidney COSM87110 TET2 c.2862G>A p.W954* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3736847 BRD8 c.673G>T p.G225C Substitution - Missense Upper_aerodigestive_tract COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4186986 ZBTB33 c.1748T>A p.L583H Substitution - Missense Kidney COSM3563523 ATRX c.1917G>C p.L639F Substitution - Missense Skin COSM3862917 ASH1L c.4760C>T p.S1587F Substitution - Missense Skin COSM3841919 BRWD1 c.3551C>G p.A1184G Substitution - Missense Breast COSM3940384 MECOM c.2469G>A p.S823S Substitution - coding silent Oesophagus COSM1673581 TRIM24 c.2906T>G p.F969C Substitution - Missense Large_intestine COSM4910544 KAT6B c.3996T>C p.P1332P Substitution - coding silent Liver COSM98117 PHIP c.3301C>G p.Q1101E Substitution - Missense Upper_aerodigestive_tract COSM25669 MGA c.3796C>T p.Q1266* Substitution - Nonsense Kidney COSM5607305 BRWD1 c.1105G>A p.D369N Substitution - Missense Skin COSM3461193 HDAC7 c.1269C>T p.G423G Substitution - coding silent Skin COSM5803900 DNMT1 c.3520G>T p.A1174S Substitution - Missense Liver COSM4945538 TDRD1 c.2651T>A p.I884N Substitution - Missense Liver COSM110721 BAP1 c.178C>T p.R60* Substitution - Nonsense Kidney COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4728338 SMARCC2 c.2339delG p.G780fs*3 Deletion - Frameshift Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM702844 JMJD5 c.99G>C p.L33L Substitution - coding silent Lung COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4992388 PRDM1 c.2292G>T p.M764I Substitution - Missense Skin COSM1215635 MTA1 c.1607C>T p.A536V Substitution - Missense Large_intestine COSM1624906 TAF1L c.773T>C p.V258A Substitution - Missense Liver COSM211706 TET2 c.403G>T p.E135* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5894003 CARM1 c.650C>T p.T217I Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM217448 SMARCA2 c.545delT p.R183fs*5 Deletion - Frameshift Liver COSM1605806 EP400 c.97A>C p.N33H Substitution - Missense Upper_aerodigestive_tract COSM5051575 KDM5A c.4395C>T p.D1465D Substitution - coding silent Stomach COSM5643280 TRRAP c.10966G>A p.V3656I Substitution - Missense Oesophagus COSM360693 TRIM33 c.1267G>T p.G423C Substitution - Missense Lung COSM4618262 KDM3A c.3842G>A p.R1281Q Substitution - Missense Large_intestine COSM424702 TDRD5 c.1440C>A p.I480I Substitution - coding silent Large_intestine COSM2044754 PHC1 c.347G>A p.R116Q Substitution - Missense Stomach COSM685315 KAT6B c.436C>A p.P146T Substitution - Missense Lung COSM3423828 ZGPAT c.326C>T p.A109V Substitution - Missense Large_intestine COSM4104426 EP300 c.20A>G p.E7G Substitution - Missense Stomach COSM4097806 NCOA6 c.3247C>T p.Q1083* Substitution - Nonsense Skin COSM1080952 PHF3 c.2183G>T p.G728V Substitution - Missense Endometrium COSM71284 KDM5C c.2735G>A p.G912E Substitution - Missense Liver COSM4574676 KAT5 c.478G>C p.G160R Substitution - Missense Bone COSM3749287 SETD3 c.583C>T p.R195W Substitution - Missense Large_intestine COSM4114061 ZBTB38 c.3565G>A p.G1189S Substitution - Missense Stomach COSM1626486 ASH1L c.988A>G p.T330A Substitution - Missense Liver COSM693863 KDM5A c.498C>G p.L166L Substitution - coding silent Lung COSM5355154 BAP1 c.1742G>A p.G581D Substitution - Missense Large_intestine COSM2067865 ARID2 c.4384C>T p.Q1462* Substitution - Nonsense Biliary_tract COSM4928530 JHDM1D c.2604G>A p.A868A Substitution - coding silent Liver COSM3648805 ASH2L c.474C>T p.F158F Substitution - coding silent Skin COSM4969524 ARID1B c.1177_1178insCCG p.S393_Q394insA Insertion - In frame Central_nervous_system COSM3033685 MECP2 c.447C>T p.S149S Substitution - coding silent Bone COSM1664677 TIF1 c.475T>A p.S159T Substitution - Missense Kidney COSM5097942 PYGO2 c.1093G>A p.A365T Substitution - Missense Large_intestine COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Bone COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Breast COSM4792463 KDM4C c.139G>T p.A47S Substitution - Missense Liver COSM3377366 CHD8 c.3533G>A p.R1178H Substitution - Missense Pancreas COSM24932 HNF1A c.956delG p.G319fs*23 Deletion - Frameshift Liver COSM2813578 SMARCA4 c.1940C>T p.P647L Substitution - Missense Large_intestine COSM1756582 PHF16 c.2408C>G p.S803C Substitution - Missense Urinary_tract COSM5882016 KMT2A c.1817G>A p.G606E Substitution - Missense Skin COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Central_nervous_system COSM1168027 TET2 c.702T>G p.Y234* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3458268 EP400 c.8565C>T p.P2855P Substitution - coding silent Skin COSM1055651 GABRG1 c.202C>A p.L68M Substitution - Missense Endometrium COSM79061 SP100 c.1804C>T p.Q602* Substitution - Nonsense Ovary COSM52947 IDH2 c.? p.R172? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM724842 DIDO1 c.5546A>T p.H1849L Substitution - Missense Lung COSM3968226 ARID2 c.1126G>A p.E376K Substitution - Missense Biliary_tract COSM1753997 KDM3B c.1660C>T p.R554W Substitution - Missense Urinary_tract COSM3236479 HCFC1 c.4229C>T p.S1410L Substitution - Missense Large_intestine COSM1665687 PBRM1 c.412delT p.C138fs*36 Deletion - Frameshift Kidney COSM5890939 SETD1A c.3506C>T p.S1169F Substitution - Missense Skin COSM324301 WDR5 c.555G>C p.L185F Substitution - Missense Lung COSM5969560 RERE c.1480G>A p.D494N Substitution - Missense Upper_aerodigestive_tract COSM43505 TET2 c.? p.R1516* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1750765 DOT1L c.1369C>G p.H457D Substitution - Missense Urinary_tract COSM2214941 RBBP5 c.510C>T p.N170N Substitution - coding silent Pancreas COSM479092 BRD1 c.2339G>T p.G780V Substitution - Missense Kidney COSM1749629 GLYR1 c.1351A>G p.I451V Substitution - Missense Urinary_tract COSM100070 TET2 c.2887C>T p.Q963* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4653199 KDM4B c.2674C>T p.P892S Substitution - Missense Large_intestine COSM1439941 HDAC2 c.1375delA p.T459fs*>30 Deletion - Frameshift Large_intestine COSM1716416 CTCF c.2081C>T p.A694V Substitution - Missense Endometrium COSM383655 ZMYM3 c.1649G>T p.R550L Substitution - Missense Lung COSM4538305 ACTA1 c.252G>A p.M84I Substitution - Missense Skin COSM3559620 HCFC1 c.4167C>T p.T1389T Substitution - coding silent Skin COSM1293026 KDM5C c.3176G>T p.R1059L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5353235 PRDM16 c.3102C>T p.N1034N Substitution - coding silent Large_intestine COSM161882 KDM4A c.866C>T p.T289I Substitution - Missense Breast COSM4756290 CHD7 c.5818C>T p.R1940C Substitution - Missense Stomach COSM3769980 ATAT1 c.682G>A p.A228T Substitution - Missense Soft_tissue COSM5621228 MBD2 c.145G>A p.V49M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1385421 BPTF c.2874delA p.I961fs*1 Deletion - Frameshift Large_intestine COSM347977 NCOA5 c.1163G>T p.R388L Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM361307 MYST3 c.3664G>T p.E1222* Substitution - Nonsense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM1578110 ARID1A c.6156C>A p.C2052* Substitution - Nonsense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4817373 KDM3B c.4515G>C p.L1505L Substitution - coding silent Cervix COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2210758 ASH1L c.576G>A p.T192T Substitution - coding silent Large_intestine COSM1422294 ZCWPW2 c.904G>A p.E302K Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3729439 KDM4C c.2669G>A p.R890Q Substitution - Missense Stomach COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4137908 CHD1 c.285C>T p.A95A Substitution - coding silent Ovary COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM22019 NCOA2 c.3094C>G p.Q1032E Substitution - Missense Lung COSM5760539 ATRX c.? p.K202* Substitution - Nonsense Central_nervous_system COSM230842 RERE c.4087C>T p.P1363S Substitution - Missense Skin COSM686160 KMT2A c.10239G>A p.Q3413Q Substitution - coding silent Lung COSM1158017 KMT2C c.11878C>T p.R3960* Substitution - Nonsense Pancreas COSM720956 HDAC4 c.3165G>A p.T1055T Substitution - coding silent Large_intestine COSM5434539 DNMT3B c.1520T>C p.L507P Substitution - Missense Oesophagus COSM3296118 MBD5 c.1142T>C p.F381S Substitution - Missense Large_intestine COSM5752667 KMT2C c.2293G>T p.E765* Substitution - Nonsense Breast COSM422759 PBRM1 c.625C>T p.Q209* Substitution - Nonsense Kidney COSM5567957 PCGF2 c.857C>T p.S286F Substitution - Missense Skin COSM1169651 PBRM1 c.4370_4371insTT p.L1457fs*33 Insertion - Frameshift Kidney COSM23019 MEN1 c.95C>G p.P32R Substitution - Missense Parathyroid COSM4590631 GLYR1 c.1377C>G p.H459Q Substitution - Missense Upper_aerodigestive_tract COSM144631 PHF6 c.? p.H302Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM220386 EZH2 c.2045C>G p.A682G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM149089 SP110 c.383C>T p.A128V Substitution - Missense Prostate COSM4637772 CHD3 c.2684T>G p.F895C Substitution - Missense Large_intestine COSM3460979 ARID2 c.4351C>T p.P1451S Substitution - Missense Skin COSM21238 TAF1L c.140G>C p.G47A Substitution - Missense Lung COSM3875672 PHIP c.2466C>T p.G822G Substitution - coding silent Stomach COSM2038997 MTA2 c.385delT p.Y129fs*33 Deletion - Frameshift Breast COSM273746 PHF3 c.4191_4192insT p.N1400fs*1 Insertion - Frameshift Large_intestine COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM21741 SMARCA4 c.3699G>A p.M1233I Substitution - Missense Skin COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM40261 LMNB1 c.205G>A p.E69K Substitution - Missense Central_nervous_system COSM43445 TET2 c.5642A>G p.H1881R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41718 ASXL1 c.3788_3788delC p.P1263fs*17 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51418 ARID1A c.5164C>T p.R1722* Substitution - Nonsense Endometrium COSM84287 TP53BP1 c.4903T>C p.S1635P Substitution - Missense Pancreas COSM76621 STK31 c.1756A>G p.S586G Substitution - Missense Ovary COSM97173 PRDM1 c.2036C>T p.A679V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Upper_aerodigestive_tract COSM196957 BRWD3 c.4813G>A p.E1605K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM218772 DHX30 c.2003C>T p.P668L Substitution - Missense Pancreas COSM211684 TET2 c.1876C>T p.Q626* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM217012 ATF7IP c.254_255insA p.A86fs*13 Insertion - Frameshift Liver COSM216306 ZMYM1 c.1969G>T p.E657* Substitution - Nonsense Pancreas COSM233509 STK31 c.1092G>A p.M364I Substitution - Missense Skin COSM241604 SHPRH c.2021G>A p.R674H Substitution - Missense Prostate COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Endometrium COSM263824 SP140_ENST00000392045 c.2115C>T p.C705C Substitution - coding silent Large_intestine COSM275448 HELLS c.292G>T p.E98* Substitution - Nonsense Endometrium COSM274166 BRDT c.1860A>C p.T620T Substitution - coding silent Large_intestine COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Large_intestine COSM326625 TAF1L c.5047G>T p.V1683L Substitution - Missense Lung COSM338085 PRDM14 c.989G>C p.C330S Substitution - Missense Lung COSM351127 KDM3B c.1192G>A p.V398M Substitution - Missense Lung COSM364595 SFMBT1 c.2216C>G p.S739C Substitution - Missense Lung COSM370063 EYA2 c.563C>A p.P188Q Substitution - Missense Lung COSM379334 WHSC1 c.3295G>A p.E1099K Substitution - Missense Kidney COSM426746 RERE c.2475G>A p.P825P Substitution - coding silent Large_intestine COSM437705 CBX2 c.939C>T p.S313S Substitution - coding silent Prostate COSM466118 HELLS c.1852-2A>T p.? Unknown Kidney COSM488577 TAF1 c.2986C>T p.R996C Substitution - Missense Endometrium COSM557552 SRCAP c.2744C>A p.P915H Substitution - Missense Prostate COSM560057 PHF12 c.2360-2A>G p.? Unknown Prostate COSM684133 ERCC6 c.956G>C p.R319T Substitution - Missense Lung COSM941767 BAZ2A c.2612T>C p.L871P Substitution - Missense Endometrium COSM1023490 KDM3A c.561C>A p.D187E Substitution - Missense Upper_aerodigestive_tract COSM940092 KMT2D c.1396C>T p.R466C Substitution - Missense Endometrium COSM1029001 DIDO1 c.172G>T p.G58C Substitution - Missense Endometrium COSM1029173 ZGPAT c.718G>T p.D240Y Substitution - Missense Endometrium COSM1027976 ADNP c.852A>G p.P284P Substitution - coding silent Endometrium COSM1023004 INO80B c.457G>T p.D153Y Substitution - Missense Endometrium COSM750788 EYA1 c.1310G>C p.R437P Substitution - Missense Lung COSM1039200 ZBTB38 c.1610C>A p.S537Y Substitution - Missense Endometrium COSM1075261 JARID2 c.3059G>A p.C1020Y Substitution - Missense Endometrium COSM1061325 KDM3B c.1577T>G p.F526C Substitution - Missense Endometrium COSM1123023 SMC1A c.3592G>A p.E1198K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1088650 STK31 c.2086G>A p.A696T Substitution - Missense Endometrium COSM1099535 ASH2L c.620G>A p.C207Y Substitution - Missense Endometrium COSM1086000 TIF1 c.1948C>T p.R650C Substitution - Missense Endometrium COSM1239818 PHF11 c.421G>A p.A141T Substitution - Missense Oesophagus COSM1242007 ARID1A c.3211delA p.K1072fs*21 Deletion - Frameshift Large_intestine COSM1166604 TET2 c.3717_3718insAC p.L1240fs*14 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1205376 EP400 c.3469G>A p.V1157I Substitution - Missense Large_intestine COSM1693764 MECOM c.2915G>A p.R972K Substitution - Missense Skin COSM1186839 KDM3B c.1794G>C p.M598I Substitution - Missense Lung COSM1603282 TRDMT1 c.390A>G p.R130R Substitution - coding silent Liver COSM1307307 NCOA6 c.490G>T p.G164* Substitution - Nonsense Urinary_tract COSM1289774 KMT2D c.13081C>A p.P4361T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1331581 TAF1L c.1806C>A p.T602T Substitution - coding silent Ovary COSM1325749 ATF2 c.877G>C p.D293H Substitution - Missense Ovary COSM1334671 ASH1L c.74C>T p.A25V Substitution - Missense Large_intestine COSM1388996 CXXC1 c.1498C>T p.R500C Substitution - Missense Large_intestine COSM1413185 ZGPAT c.1140C>A p.T380T Substitution - coding silent Large_intestine COSM1462642 KIAA2026_ENST00000399933 c.4241C>T p.S1414L Substitution - Missense Large_intestine COSM1340251 KDM1A c.2427G>A p.S809S Substitution - coding silent Large_intestine COSM1607485 CHD8 c.3882+7C>T p.? Unknown Liver COSM1479269 NCOR1 c.3137C>A p.S1046* Substitution - Nonsense Breast COSM1583074 DNMT3A c.1665C>A p.C555* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1628186 KDM2A c.1702C>T p.R568* Substitution - Nonsense Liver COSM1638631 SFMBT2 c.2502G>A p.K834K Substitution - coding silent Stomach COSM1678193 SMEK1 c.929T>G p.F310C Substitution - Missense Large_intestine COSM1668759 DNMT3A c.2283G>A p.M761I Substitution - Missense Large_intestine COSM1675577 TDRD1 c.2499A>G p.I833M Substitution - Missense Large_intestine COSM1702655 KAT6B c.2920T>A p.C974S Substitution - Missense Skin COSM1748567 PHF13 c.600C>T p.I200I Substitution - coding silent Urinary_tract COSM1748623 RERE c.1261G>A p.E421K Substitution - Missense Urinary_tract COSM1737874 IDH2 c.418C>G p.R140G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1965093 KAT6B c.1365T>A p.I455I Substitution - coding silent Upper_aerodigestive_tract COSM2156715 PRDM13 c.1992C>T p.D664D Substitution - coding silent Central_nervous_system COSM2153201 BRPF3 c.3024C>T p.S1008S Substitution - coding silent Central_nervous_system COSM2157628 KAT6B c.1200_1201insG p.V401fs*26 Insertion - Frameshift Central_nervous_system COSM2221770 TRIM66 c.3438G>C p.E1146D Substitution - Missense Upper_aerodigestive_tract COSM2210623 ASH1L c.8547G>C p.L2849F Substitution - Missense Upper_aerodigestive_tract COSM2260247 MTF2 c.55C>T p.R19C Substitution - Missense Kidney COSM2725355 SMARCA1 c.2618A>T p.E873V Substitution - Missense Large_intestine COSM2889482 DNMT3B c.248A>G p.D83G Substitution - Missense Large_intestine COSM3080609 ACTL6B c.1152G>T p.M384I Substitution - Missense Stomach COSM3291676 CHD6 c.4199G>A p.R1400H Substitution - Missense Large_intestine COSM3395784 TAF1L c.1107T>C p.Y369Y Substitution - coding silent Pancreas COSM3479279 TDRD5 c.747G>A p.P249P Substitution - coding silent Skin COSM3422769 DPF1 c.607G>T p.E203* Substitution - Nonsense Large_intestine COSM3450154 GLYATL1 c.849G>A p.M283I Substitution - Missense Skin COSM3618964 PRDM13 c.188C>T p.S63F Substitution - Missense Skin COSM3630731 ZCWPW1 c.1378G>A p.E460K Substitution - Missense Skin COSM3545317 DNMT3B c.2452G>A p.V818M Substitution - Missense Skin COSM3550701 BRWD1 c.4774G>A p.G1592R Substitution - Missense Skin COSM3563247 HDAC8 c.817C>T p.P273S Substitution - Missense Skin COSM3550990 PRDM15 c.3165C>T p.I1055I Substitution - coding silent Skin COSM3567433 MBD5 c.1048C>T p.P350S Substitution - Missense Skin COSM3514762 RAI1 c.3496G>A p.G1166S Substitution - Missense Skin COSM3525874 SETBP1 c.3691C>T p.L1231L Substitution - coding silent Skin COSM3647910 ELP3 c.931C>T p.R311C Substitution - Missense Skin COSM3667526 PRDM16 c.1394C>T p.P465L Substitution - Missense Liver COSM3722551 KMT2D c.6669G>T p.G2223G Substitution - coding silent Large_intestine COSM3730501 PWWP2B c.1467C>T p.A489A Substitution - coding silent Stomach COSM3740447 EP300 c.6922C>T p.R2308C Substitution - Missense Liver COSM3777713 TDRD6 c.4966G>A p.E1656K Substitution - Missense Urinary_tract COSM3816135 TP53BP1 c.2821+5G>A p.? Unknown Breast COSM3942705 CHD7 c.299C>G p.S100C Substitution - Missense Oesophagus COSM3837129 BAZ2B c.4698A>C p.T1566T Substitution - coding silent Breast COSM3824311 BAP1 c.277A>G p.T93A Substitution - Missense Breast COSM3906178 EHMT1 c.2083G>A p.A695T Substitution - Missense Stomach COSM3948481 SRCAP c.6535A>C p.K2179Q Substitution - Missense Ovary COSM3969542 SRCAP c.4125C>G p.L1375L Substitution - coding silent Central_nervous_system COSM3978957 HELLS c.1238C>G p.S413C Substitution - Missense Lung COSM4019327 PRDM10 c.1270A>T p.S424C Substitution - Missense Stomach COSM4010190 RERE c.1807A>G p.N603D Substitution - Missense Stomach COSM4114052 ZBTB38 c.1507A>G p.R503G Substitution - Missense Stomach COSM4069618 ZBTB4 c.2736T>C p.A912A Substitution - coding silent Stomach COSM4059648 GTF3C1 c.3727A>G p.R1243G Substitution - Missense Stomach COSM4059653 GTF3C1 c.3348C>T p.A1116A Substitution - coding silent Stomach COSM4136102 BAZ2B c.4149A>G p.R1383R Substitution - coding silent Ovary COSM4170038 TET2 c.3986T>C p.L1329P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4383554 DNMT3A c.2095G>C p.G699R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4385087 ASXL1 c.2128delG p.G710fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4550304 PRDM16 c.497G>C p.G166A Substitution - Missense Skin COSM4571368 BAZ2B c.4417T>C p.L1473L Substitution - coding silent Skin COSM4453596 MTA2 c.319A>T p.S107C Substitution - Missense Skin COSM4770768 BAP1 c.790delA p.R264fs*2 Deletion - Frameshift Pleura COSM4752115 DNMT3B c.1010A>C p.H337P Substitution - Missense Stomach COSM4777712 SUV420H1 c.598_599insG p.C200fs*2 Insertion - Frameshift Prostate COSM4794958 EHMT1 c.985G>A p.D329N Substitution - Missense Liver COSM4803519 CHD7 c.6087C>T p.P2029P Substitution - coding silent Liver COSM4915204 MBD3 c.724G>T p.A242S Substitution - Missense Liver COSM4917326 EP300 c.5322A>T p.K1774N Substitution - Missense Liver COSM4940524 GTF3C1 c.4280T>C p.L1427P Substitution - Missense Liver COSM4830094 ARID1A c.2799G>A p.G933G Substitution - coding silent Cervix COSM4958519 ASXL3 c.2357C>T p.A786V Substitution - Missense Liver COSM4954673 BRD1 c.1078C>T p.L360L Substitution - coding silent Liver COSM4944936 EPC2 c.1369G>A p.G457S Substitution - Missense Liver COSM4969946 CHD6 c.6082G>T p.E2028* Substitution - Nonsense Central_nervous_system COSM4996390 TET2 c.3412C>T p.Q1138* Substitution - Nonsense Upper_aerodigestive_tract COSM4991721 DNMT3A c.1487C>T p.S496F Substitution - Missense Skin COSM5063826 PSIP1 c.39C>A p.A13A Substitution - coding silent Stomach COSM5401237 GABRG1 c.828G>A p.Q276Q Substitution - coding silent Skin COSM5438723 ZCWPW2 c.350G>T p.C117F Substitution - Missense Oesophagus COSM5448165 RAG2 c.1257C>T p.C419C Substitution - coding silent Large_intestine COSM5629620 KMT2C c.8998G>A p.V3000I Substitution - Missense Oesophagus COSM5611800 JMJD1C c.4233C>G p.D1411E Substitution - Missense Adrenal_gland COSM5722154 ING1 c.141C>T p.I47I Substitution - coding silent Skin COSM5727853 TDRD10 c.923C>T p.P308L Substitution - Missense Skin COSM5747287 SUV420H1 c.1456A>G p.K486E Substitution - Missense Pancreas COSM5663693 BPTF c.5968A>G p.T1990A Substitution - Missense Soft_tissue COSM5706504 BPTF c.5184A>T p.L1728F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5708764 SETD2 c.5329_5330insT p.S1778fs*88 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5567927 MSH6 c.820A>T p.S274C Substitution - Missense Prostate COSM5611427 BAP1 c.511_512insCCACTTTTG p.F170_V171insATF Insertion - In frame Pleura COSM5782410 SIRT1 c.2070G>A p.E690E Substitution - coding silent Breast COSM5824033 EYA2 c.1336G>T p.V446F Substitution - Missense Liver COSM6004560 ASXL1 c.2151G>T p.R717S Substitution - Missense Prostate COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM4167253 TET2 c.? p.E984* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43409 TET2 c.? p.?fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM4972323 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM221574 IDH1 c.? p.R132P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4169637 SETBP1 c.? p.S214V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4170030 TET2 c.4147A>G p.R1383G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3726179 EP300 c.3482G>C p.G1161A Substitution - Missense Lung COSM5609086 HNF1A c.229G>A p.D77N Substitution - Missense Skin COSM4320642 MECOM c.1811G>A p.R604Q Substitution - Missense Skin COSM3901327 PRDM14 c.350G>A p.S117N Substitution - Missense Stomach COSM1633299 ATXN7 c.2086A>G p.S696G Substitution - Missense Liver COSM22569 MEN1 c.1318_1319delCT p.L440fs*8 Deletion - Frameshift Thymus COSM3413843 PHF2 c.420G>A p.P140P Substitution - coding silent Central_nervous_system COSM1388365 AP001011.3_ENST00000320876 c.3893T>C p.V1298A Substitution - Missense Large_intestine COSM987383 AP001011.3_ENST00000320876 c.1058A>G p.Y353C Substitution - Missense Endometrium COSM4617454 PRDM16 c.2635G>A p.V879M Substitution - Missense Large_intestine COSM337127 SETD7 c.607A>T p.T203S Substitution - Missense Lung COSM272462 CCDC101 c.585C>T p.I195I Substitution - coding silent Large_intestine COSM4044294 CHD4 c.4946C>T p.A1649V Substitution - Missense Stomach COSM5625681 PHF15 c.363C>T p.T121T Substitution - coding silent Oesophagus COSM1124912 TAF1 c.3707G>T p.R1236M Substitution - Missense Endometrium COSM3570155 ATF2 c.862C>T p.P288S Substitution - Missense Skin COSM3901346 NCOA2 c.1044T>C p.A348A Substitution - coding silent Stomach COSM3629185 PHF3 c.5472C>T p.P1824P Substitution - coding silent Skin COSM896620 TDRD10 c.651G>A p.E217E Substitution - coding silent Endometrium COSM50910 CHD1 c.4234A>T p.K1412* Substitution - Nonsense Breast COSM5687940 SETD2 c.4872A>G p.Q1624Q Substitution - coding silent Soft_tissue COSM1602444 KDM4A c.1258C>A p.L420M Substitution - Missense Liver COSM87011 DNMT3A c.2141C>G p.S714C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2889295 ASXL1 c.3098A>T p.E1033V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5467722 KIAA2026_ENST00000399933 c.795-6C>A p.? Unknown Large_intestine COSM4703493 MTA2 c.657C>G p.H219Q Substitution - Missense Large_intestine COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Soft_tissue COSM5999242 EPC1 c.1127G>A p.S376N Substitution - Missense Prostate COSM1183584 ARID4A c.3316G>T p.G1106* Substitution - Nonsense Large_intestine COSM2834945 CHD9 c.7906delA p.S2637fs*24 Deletion - Frameshift Large_intestine COSM254546 ARID1A c.3743C>A p.S1248* Substitution - Nonsense Urinary_tract COSM5787015 RERE c.1700G>A p.S567N Substitution - Missense Breast COSM1228051 SUV420H2 c.206C>T p.T69M Substitution - Missense Large_intestine COSM5183048 KDM4B c.1673G>A p.G558D Substitution - Missense Large_intestine COSM258775 DPF2 c.907C>T p.H303Y Substitution - Missense Large_intestine COSM5663759 EYA2 c.227C>A p.A76E Substitution - Missense Soft_tissue COSM4741210 WHSC1 c.3886T>C p.C1296R Substitution - Missense Stomach COSM5706359 PCGF2 c.460G>A p.G154R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4426801 EYA4 c.1012delG p.D338fs*66 Deletion - Frameshift Oesophagus COSM97179 PRDM1 c.37_38delTG p.W13fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM374857 HDAC6 c.3074C>T p.S1025L Substitution - Missense Lung COSM908631 ZMYM6 c.426G>A p.S142S Substitution - coding silent Large_intestine COSM1201015 CHD8 c.5608G>A p.D1870N Substitution - Missense Liver COSM4384702 KMT2D c.13469C>T p.A4490V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5755167 CHD3 c.4210G>A p.G1404R Substitution - Missense Large_intestine COSM4064261 SMYD4 c.2365A>G p.K789E Substitution - Missense Stomach COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Skin COSM1087613 KMT2C c.3899G>A p.R1300K Substitution - Missense Endometrium COSM5396603 ATAD2B_ENST00000238789 c.2607C>T p.T869T Substitution - coding silent Skin COSM451359 BRPF3 c.1768G>C p.E590Q Substitution - Missense Breast COSM5014578 BAG6 c.797C>G p.S266C Substitution - Missense Kidney COSM96460 CREBBP c.760G>A p.A254T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384732 KMT2D c.7531C>T p.P2511S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2777620 KIAA2026_ENST00000399933 c.1026G>A p.S342S Substitution - coding silent Large_intestine COSM4169403 EP300 c.? p.R604Q Substitution - Missense Skin COSM138552 RING1 c.301C>T p.P101S Substitution - Missense Skin COSM740277 ARID1B c.5260G>A p.A1754T Substitution - Missense Lung COSM4958424 PHF17 c.1033C>T p.R345W Substitution - Missense Liver COSM5446507 TET2 c.4643_4645delAGC p.Q1548delQ Deletion - In frame Thyroid COSM1051860 PRMT10 c.702G>A p.T234T Substitution - coding silent Endometrium COSM4991358 ASXL1 c.1195C>T p.P399S Substitution - Missense Skin COSM3706558 MGA c.4435-3C>T p.? Unknown Liver COSM1309594 TET2 c.3270G>C p.K1090N Substitution - Missense Urinary_tract COSM3536728 UHRF1 c.2165C>T p.P722L Substitution - Missense Skin COSM4559643 SRCAP c.8138G>A p.G2713D Substitution - Missense Skin COSM902722 RBBP5 c.1450G>T p.A484S Substitution - Missense Endometrium COSM5039387 ALKBH3 c.400G>A p.A134T Substitution - Missense Liver COSM52896 PBRM1 c.3703delG p.V1235fs*34 Deletion - Frameshift Kidney COSM1015581 IDH1 c.251A>C p.E84A Substitution - Missense Endometrium COSM5059481 MECOM c.1052A>G p.Q351R Substitution - Missense Stomach COSM4075092 MBD3 c.873C>T p.V291V Substitution - coding silent Stomach COSM4929842 DIDO1 c.2573-2A>T p.? Unknown Liver COSM4957474 PRDM8 c.168T>A p.A56A Substitution - coding silent Liver COSM3377478 SMEK1 c.1490C>T p.A497V Substitution - Missense Stomach COSM3291628 CHD6 c.7685C>T p.T2562M Substitution - Missense Kidney COSM4043164 CBX5 c.409A>G p.M137V Substitution - Missense Stomach COSM908619 ZMYM6 c.1271C>T p.T424I Substitution - Missense Endometrium COSM3514734 RAI1 c.1110T>A p.F370L Substitution - Missense Skin COSM4162024 KMT2C c.946A>T p.T316S Substitution - Missense Upper_aerodigestive_tract COSM4162024 KMT2C c.946A>T p.T316S Substitution - Missense Thyroid COSM3108941 GTF3C1 c.1119C>T p.Y373Y Substitution - coding silent Soft_tissue COSM350791 MECOM c.2091G>A p.L697L Substitution - coding silent Lung COSM740316 JARID2 c.3505G>C p.V1169L Substitution - Missense Lung COSM4723975 SCML2 c.1523T>C p.V508A Substitution - Missense Large_intestine COSM4839522 JARID2 c.3483T>C p.C1161C Substitution - coding silent Cervix COSM251142 SMARCA1 c.478G>A p.E160K Substitution - Missense Liver COSM5610625 SMARCA4 c.2904C>T p.L968L Substitution - coding silent Skin COSM5475345 HDAC6 c.2510T>C p.M837T Substitution - Missense Large_intestine COSM3467872 RNF17 c.609C>A p.S203S Substitution - coding silent Skin COSM3637562 STK31 c.2488G>A p.E830K Substitution - Missense Skin COSM463497 TDRD5 c.702A>G p.V234V Substitution - coding silent Kidney COSM1312086 PHF1 c.1572G>A p.G524G Substitution - coding silent Urinary_tract COSM724357 ZMYND8 c.1215C>T p.S405S Substitution - coding silent Lung COSM1680656 CARM1 c.254C>T p.S85F Substitution - Missense Ovary COSM220035 NCOR1 c.3043A>C p.I1015L Substitution - Missense Prostate COSM753015 EHMT1 c.485C>A p.A162D Substitution - Missense Lung COSM124694 NCOR1 c.3113C>G p.P1038R Substitution - Missense Upper_aerodigestive_tract COSM1309367 PBRM1 c.2299G>C p.E767Q Substitution - Missense Urinary_tract COSM5032100 KMT2A c.7248A>G p.E2416E Substitution - coding silent Pancreas COSM1285542 ING4 c.628G>A p.G210S Substitution - Missense Autonomic_ganglia COSM247654 SUV420H1 c.310G>A p.A104T Substitution - Missense Prostate COSM4698221 LMNA c.812T>C p.L271P Substitution - Missense Large_intestine COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1031242 AIRE c.572C>T p.A191V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5879052 TET2 c.5836delG p.G1946fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4953469 SMYD3 c.602A>T p.E201V Substitution - Missense Liver COSM5500879 EP400 c.6916delA p.K2306fs*39 Deletion - Frameshift Biliary_tract COSM3495056 PRMT5 c.730C>T p.P244S Substitution - Missense Skin COSM2164478 MEN1 c.1071C>T p.D357D Substitution - coding silent Large_intestine COSM252979 CLOCK c.368delT p.L123fs*1 Deletion - Frameshift Stomach COSM5648182 ING1 c.415G>T p.A139S Substitution - Missense Oesophagus COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1426603 PRDM5 c.740C>T p.S247L Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4170630 ARID1A c.276_277insG p.P94fs*17 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5710026 ATAT1 c.77C>G p.A26G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4513282 FXR1 c.932C>A p.S311Y Substitution - Missense Skin COSM4714017 PHF8 c.2964_2965delCC p.Q989fs*>36 Deletion - Frameshift Large_intestine COSM353966 CBX2 c.1038A>T p.A346A Substitution - coding silent Lung COSM3947399 PRDM9 c.1976C>T p.T659I Substitution - Missense Lung COSM87263 IKZF1 c.1-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5413115 ATRX c.7170C>G p.I2390M Substitution - Missense Skin COSM1646551 CHD4 c.4615A>G p.K1539E Substitution - Missense Lung COSM4970529 PRDM2 c.849T>A p.D283E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1035252 BRD1 c.1086G>A p.M362I Substitution - Missense Endometrium COSM3460967 ARID2 c.1825C>T p.Q609* Substitution - Nonsense Skin COSM4420957 NSD1 c.5968G>C p.E1990Q Substitution - Missense Prostate COSM1674364 SMARCA2 c.2423C>T p.P808L Substitution - Missense Prostate COSM1317975 CHD4 c.2924G>A p.R975H Substitution - Missense Endometrium COSM1080 SMARCB1 c.1124_1125insGAGGCGTC p.M375fs*14 Insertion - Frameshift Central_nervous_system COSM4770128 DAXX c.1705C>G p.L569V Substitution - Missense Biliary_tract COSM5021798 SETDB2 c.906-9G>T p.? Unknown Bone COSM1067059 PRDM9 c.249C>T p.L83L Substitution - coding silent Skin COSM5047132 EP300 c.3702delA p.N1236fs*41 Deletion - Frameshift Oesophagus COSM3508987 SETD1A c.2961T>G p.D987E Substitution - Missense Skin COSM1378186 BRD7 c.1710G>A p.P570P Substitution - coding silent Large_intestine COSM4503567 CDYL c.804C>T p.P268P Substitution - coding silent Skin COSM1387288 BAHCC1 c.3353G>A p.G1118E Substitution - Missense Large_intestine COSM1349796 BTAF1 c.1700delT p.Q569fs*23 Deletion - Frameshift Large_intestine COSM5455901 PHF8 c.294-10C>T p.? Unknown Large_intestine COSM1701032 TAF1L c.3772G>A p.E1258K Substitution - Missense Skin COSM1716839 DNMT3A c.? p.S663fs*42 Unknown Haematopoietic_and_lymphoid_tissue COSM5944278 TET2 c.2906delA p.T970fs*37 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5004210 FMR1 c.1861G>A p.V621M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5949193 KDM2B c.739C>T p.R247W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5358187 TRRAP c.8718C>T p.H2906H Substitution - coding silent Large_intestine COSM28751 IDH1 c.394_395CG>GT p.R132V Substitution - Missense Central_nervous_system COSM3637547 STK31 c.1714G>A p.D572N Substitution - Missense Skin COSM4072245 SETBP1 c.2830A>C p.S944R Substitution - Missense Stomach COSM1051630 SMARCA5 c.2871T>C p.C957C Substitution - coding silent Endometrium COSM3400647 ARID1A c.4380C>T p.G1460G Substitution - coding silent Central_nervous_system COSM5702758 MSH6 c.3463C>T p.Q1155* Substitution - Nonsense Pancreas COSM1155719 ASXL1 c.3506C>T p.S1169F Substitution - Missense Skin COSM5047114 KMT2D c.10031C>G p.S3344* Substitution - Nonsense Oesophagus COSM1319466 SCML2 c.139G>T p.A47S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM468037 EP400 c.8226A>G p.Q2742Q Substitution - coding silent Breast COSM5708161 DNMT3A c.356A>T p.E119V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5038955 ACTB c.650G>T p.C217F Substitution - Missense Liver COSM1644086 BRWD3 c.3418delG p.A1140fs*42 Deletion - Frameshift Stomach COSM3453559 RSF1 c.1364T>A p.F455Y Substitution - Missense Soft_tissue COSM1375548 CHD2 c.3038C>G p.A1013G Substitution - Missense Large_intestine COSM5553821 PHF20 c.256G>T p.E86* Substitution - Nonsense Prostate COSM5019840 DOT1L c.1275G>A p.K425K Substitution - coding silent Soft_tissue COSM4434236 KMT2D c.3379T>C p.C1127R Substitution - Missense Oesophagus COSM1215214 MLL5 c.680G>T p.R227I Substitution - Missense Large_intestine COSM4108018 MECP2 c.316C>T p.R106W Substitution - Missense Stomach COSM3567467 MBD5 c.4179C>T p.I1393I Substitution - coding silent Skin COSM4757756 KAT6B c.6146C>T p.T2049M Substitution - Missense Stomach COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3843343 MSL3 c.1383G>A p.V461V Substitution - coding silent Breast COSM4837296 ERCC6 c.687G>A p.M229I Substitution - Missense Cervix COSM4922509 SND1 c.367A>G p.I123V Substitution - Missense Liver COSM1308626 HDAC11 c.139A>C p.N47H Substitution - Missense Urinary_tract COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM251353 ARID1A c.1015_1029delGCTGCGGCGGCGGCA p.A339_A343delAAAAA Deletion - In frame Liver COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4960601 ELP3 c.1271G>A p.R424K Substitution - Missense Liver COSM322799 PRDM13 c.241A>T p.T81S Substitution - Missense Lung COSM1424552 PBRM1 c.829A>T p.K277* Substitution - Nonsense Large_intestine COSM3398267 TDG c.819T>A p.S273R Substitution - Missense Central_nervous_system COSM106672 RAG2 c.968G>A p.G323E Substitution - Missense Skin COSM1099 SMARCB1 c.628+13C>T p.? Unknown Central_nervous_system COSM4170108 TET2 c.355_356insATGG p.E121fs*5 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4992920 KMT2C c.10806G>T p.G3602G Substitution - coding silent Skin COSM3423960 BRWD1 c.4054G>A p.D1352N Substitution - Missense Large_intestine COSM5556777 CDYL2 c.271C>G p.H91D Substitution - Missense Prostate COSM4469036 EP400 c.1578C>T p.L526L Substitution - coding silent Skin COSM4836501 RING1 c.1193G>A p.C398Y Substitution - Missense Cervix COSM969245 GTF3C1 c.5708A>C p.D1903A Substitution - Missense Endometrium COSM3594806 DHX30 c.497G>A p.R166Q Substitution - Missense Skin COSM5990917 BRWD3 c.3538_3545delACTGTAGT p.T1180fs*5 Deletion - Frameshift Prostate COSM4122627 PRMT10 c.1673A>G p.D558G Substitution - Missense Stomach COSM5659318 SMARCA2 c.4461+1G>T p.? Unknown Soft_tissue COSM993 SMARCB1 c.601C>T p.R201* Substitution - Nonsense Soft_tissue COSM1724744 CHD7 c.3769C>T p.L1257F Substitution - Missense Skin COSM5718457 KDM4B c.2413G>A p.G805S Substitution - Missense Skin COSM1609408 CHD9 c.1452+3A>G p.? Unknown Liver COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Biliary_tract COSM393571 MSH6 c.3467T>A p.M1156K Substitution - Missense Lung COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1267350 TAF1 c.3890A>T p.E1297V Substitution - Missense Oesophagus COSM5811339 HDAC2 c.127C>T p.L43L Substitution - coding silent Liver COSM137207 NCOA6 c.4675C>T p.L1559F Substitution - Missense Skin COSM5808125 DNMT1 c.3534G>C p.R1178R Substitution - coding silent Liver COSM4151797 BAHCC1 c.2631G>A p.L877L Substitution - coding silent Kidney COSM4579033 CREBBP c.113delA p.N38fs*7 Deletion - Frameshift Bone COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Central_nervous_system COSM4608918 CHD6 c.6894G>T p.M2298I Substitution - Missense Adrenal_gland COSM1030469 SETD4 c.739T>C p.F247L Substitution - Missense Endometrium COSM1672468 TDRD6 c.4599C>A p.Y1533* Substitution - Nonsense Large_intestine COSM1586698 CHD4 c.4467C>A p.R1489R Substitution - coding silent Endometrium COSM5422379 CARM1 c.627A>C p.K209N Substitution - Missense Prostate COSM41877 IDH2 c.418C>T p.R140W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4728283 SMARCA2 c.4480G>A p.V1494I Substitution - Missense Oesophagus COSM5952065 ARID1A c.2988+1G>T p.? Unknown Oesophagus COSM3594660 SETD2 c.4399C>T p.L1467L Substitution - coding silent Skin COSM173492 TAF1 c.3376C>T p.R1126W Substitution - Missense Endometrium COSM1093725 TRRAP c.11055A>G p.I3685M Substitution - Missense Endometrium COSM1045668 SMARCC1 c.1472G>A p.R491Q Substitution - Missense Endometrium COSM4628042 PHF21B c.937T>A p.Y313N Substitution - Missense Large_intestine COSM4801918 PRDM2 c.2158T>C p.S720P Substitution - Missense Liver COSM5629598 PRDM9 c.2127T>A p.T709T Substitution - coding silent Large_intestine COSM4000327 CBX4 c.871T>C p.S291P Substitution - Missense Upper_aerodigestive_tract COSM88818 TET2 c.? p.D1425fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM4767619 KMT2D c.15574G>C p.D5192H Substitution - Missense Biliary_tract COSM1737882 TET2 c.3578G>A p.C1193Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1600146 ACTA1 c.353G>A p.R118H Substitution - Missense Central_nervous_system COSM5519997 DPF2 c.776-12_776-4delTTCTCTCTG p.? Unknown Biliary_tract COSM5462556 GLYR1 c.806+3A>G p.? Unknown Large_intestine COSM4692525 INOC1 c.654T>G p.L218L Substitution - coding silent Large_intestine COSM4168148 EZH2 c.1672+5G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM731326 BRPF1 c.3380C>A p.P1127H Substitution - Missense Lung COSM3791027 BTAF1 c.223G>C p.E75Q Substitution - Missense Urinary_tract COSM52889 PBRM1 c.1253delC p.P418fs*20 Deletion - Frameshift Kidney COSM3901333 NCOA2 c.4352A>G p.D1451G Substitution - Missense Stomach COSM72737 SMARCA4 c.2896C>T p.R966W Substitution - Missense Ovary COSM1717482 TET2 c.2403_2404insT p.V802fs*14 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4951049 KMT2D c.7117_7118delGA p.E2373fs*11 Deletion - Frameshift Liver COSM4385431 ATRX c.1159A>G p.T387A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1669702 IDH1 c.290G>A p.G97D Substitution - Missense Large_intestine COSM1496342 DAXX c.1244C>T p.S415F Substitution - Missense Kidney COSM937168 EP400 c.5712C>A p.T1904T Substitution - coding silent Endometrium COSM3854568 PRDM9 c.970G>A p.D324N Substitution - Missense Stomach COSM5795881 KDM1A c.954A>G p.Q318Q Substitution - coding silent Breast COSM5997509 TRRAP c.9353A>G p.Q3118R Substitution - Missense Prostate COSM1189166 CREBBP c.4008C>G p.N1336K Substitution - Missense Lung COSM5602891 BAZ2A_ENST00000379441 c.1786-1G>A p.? Unknown Skin COSM5991757 DHX30 c.3481delC p.S1163fs*>32 Deletion - Frameshift Prostate COSM1732149 BAP1 c.2110delG p.V704fs*>26 Deletion - Frameshift Kidney COSM4659177 ACTR6 c.261delT p.L89fs*1 Deletion - Frameshift Large_intestine COSM107466 JMJD6 c.877A>G p.N293D Substitution - Missense Skin COSM5637565 MLL5 c.3122C>T p.T1041M Substitution - Missense Oesophagus COSM5679473 PRMT5 c.1190C>G p.A397G Substitution - Missense Soft_tissue COSM3550992 PRDM15 c.3135C>T p.N1045N Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5113742 ATRX c.1285A>G p.T429A Substitution - Missense Large_intestine COSM1027507 EYA2 c.959T>C p.L320P Substitution - Missense Endometrium COSM5352293 EP300 c.? p.A2354T Substitution - Missense Endometrium COSM4170146 TET2 c.2310_2311insAG p.G773fs*41 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4136941 ZMYND8 c.1480+3C>T p.? Unknown Ovary COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1265641 SIRT1 c.963C>T p.F321F Substitution - coding silent Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1447010 MLL5 c.1652delA p.T553fs*7 Deletion - Frameshift Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5783836 JMJD1C c.2599C>T p.Q867* Substitution - Nonsense Breast COSM228110 KMT2C c.1042G>A p.D348N Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM753013 EHMT1 c.2333C>T p.P778L Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5986657 KMT2D c.7279_7289del11 p.R2427fs*23 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1041411 TBL1XR1 c.1460T>C p.F487S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3357344 EP300 c.4399T>G p.Y1467D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3759523 KDM5C c.4472A>G p.E1491G Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3712468 CBX4 c.1671C>A p.Y557* Substitution - Nonsense Upper_aerodigestive_tract COSM3376317 BAZ2A c.4903C>T p.R1635W Substitution - Missense Pancreas COSM4695012 KDM5C c.3826G>A p.E1276K Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM267971 ASXL1 c.2893C>T p.R965* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4663252 ARID1B c.3754A>G p.M1252V Substitution - Missense Large_intestine COSM1050503 PRDM5 c.1130A>C p.K377T Substitution - Missense Endometrium COSM4589479 KDM5C c.1764G>A p.Q588Q Substitution - coding silent Bone COSM33732 IDH2 c.515G>T p.R172M Substitution - Missense Central_nervous_system COSM3108304 UHRF1 c.1428G>A p.A476A Substitution - coding silent Large_intestine COSM141533 MUM1 c.1151C>T p.S384F Substitution - Missense Upper_aerodigestive_tract COSM4445225 CHD8 c.7501C>T p.P2501S Substitution - Missense Large_intestine COSM3386055 ARID1A c.1258C>T p.Q420* Substitution - Nonsense Endometrium COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1583104 DNMT3A c.2120G>T p.G707V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1672149 NSD1 c.7875G>T p.W2625C Substitution - Missense Large_intestine COSM4050625 BAZ1A c.1241C>A p.T414K Substitution - Missense Stomach COSM3357069 SMARCA4 c.2920C>T p.P974S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2007217 KMT2D c.3980T>C p.L1327P Substitution - Missense Large_intestine COSM1209425 HDGF c.400G>A p.D134N Substitution - Missense Large_intestine COSM5413596 KDM5C c.2890C>T p.P964S Substitution - Missense Prostate COSM5748877 BAZ2B c.1291C>T p.R431W Substitution - Missense Pancreas COSM3138090 PHF15 c.354G>A p.P118P Substitution - coding silent Large_intestine COSM2080188 ZMYM4 c.152G>A p.S51N Substitution - Missense Large_intestine COSM1735775 TP53BP1 c.2702-4_2702-3insT p.? Unknown Central_nervous_system COSM1494077 BAHCC1 c.1352A>T p.E451V Substitution - Missense Kidney COSM1182339 AKAP1 c.32T>G p.L11W Substitution - Missense Large_intestine COSM1748353 HDAC1 c.943G>A p.E315K Substitution - Missense Urinary_tract COSM3822500 DOT1L c.345C>A p.Y115* Substitution - Nonsense Breast COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Endometrium COSM34039 IDH2 c.514A>T p.R172W Substitution - Missense Biliary_tract COSM32867 SP110 c.23T>C p.M8T Substitution - Missense Breast COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Stomach COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM29495 SMARCB1 c.1145delC p.P383fs*4 Deletion - Frameshift Soft_tissue COSM51484 ARID1A c.4840C>T p.Q1614* Substitution - Nonsense Ovary COSM106593 BRWD1 c.5629G>A p.E1877K Substitution - Missense Skin COSM133033 ASXL1 c.4189G>A p.G1397S Substitution - Missense Kidney COSM235525 TRRAP c.7365C>T p.R2455R Substitution - coding silent Skin COSM225744 NCOR1 c.5263C>T p.R1755C Substitution - Missense Skin COSM269997 RAI1 c.1207G>A p.A403T Substitution - Missense Large_intestine COSM283983 PHC1 c.225+5G>A p.? Unknown Large_intestine COSM297508 HDGFL1 c.45G>A p.V15V Substitution - coding silent Large_intestine COSM313088 KAT6B c.3358G>T p.A1120S Substitution - Missense Soft_tissue COSM304443 HDAC1 c.1292G>A p.R431H Substitution - Missense Large_intestine COSM318103 TDRD6 c.2450A>C p.Q817P Substitution - Missense Lung COSM339931 PWWP2B c.204G>C p.R68R Substitution - coding silent Lung COSM351875 TAF1L c.4744C>G p.Q1582E Substitution - Missense Lung COSM414148 TTF2 c.3244C>A p.H1082N Substitution - Missense Urinary_tract COSM459262 ZMYM1 c.1808G>A p.R603Q Substitution - Missense Endometrium COSM452732 KMT2C c.2045C>G p.S682* Substitution - Nonsense Breast COSM461072 TCF20 c.5145G>C p.R1715R Substitution - coding silent Cervix COSM977545 SUZ12 c.480G>A p.T160T Substitution - coding silent Endometrium COSM674521 PRMT6 c.752C>T p.S251L Substitution - Missense Skin COSM1049105 MINA c.212C>A p.P71H Substitution - Missense Endometrium COSM1049134 BRPF1 c.2142C>T p.N714N Substitution - coding silent Prostate COSM1027504 EYA2 c.860C>T p.T287M Substitution - Missense Kidney COSM703232 SETD1A c.1268A>T p.Q423L Substitution - Missense Lung COSM905712 KDM1A c.1501G>A p.E501K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM896902 ASH1L c.8500C>T p.R2834* Substitution - Nonsense Endometrium COSM958934 UBR7 c.675A>G p.K225K Substitution - coding silent Endometrium COSM993341 GATAD2A c.629G>A p.R210H Substitution - Missense Endometrium COSM1021019 TET2 c.4850C>A p.P1617H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1111305 PHF2 c.2667T>C p.F889F Substitution - coding silent Endometrium COSM1113702 MSL3 c.747G>T p.K249N Substitution - Missense Endometrium COSM1168025 TET2 c.2200C>T p.Q734* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1238240 ASH1L c.8735G>A p.R2912Q Substitution - Missense Oesophagus COSM1184971 BRWD1 c.3220C>T p.R1074C Substitution - Missense Prostate COSM1204290 DNMT1 c.2873G>A p.R958H Substitution - Missense Large_intestine COSM1305869 ATF2 c.591A>G p.V197V Substitution - coding silent Urinary_tract COSM1399849 MBD5 c.3377T>C p.F1126S Substitution - Missense Large_intestine COSM1424595 SFMBT1 c.2043C>T p.R681R Substitution - coding silent Large_intestine COSM1461724 SMARCA2 c.2397G>A p.V799V Substitution - coding silent Large_intestine COSM1355794 MEN1 c.1546delC p.R516fs*43 Deletion - Frameshift Thyroid COSM1364339 APOBEC1 c.352C>T p.R118W Substitution - Missense Large_intestine COSM1506160 KAT6B c.985G>C p.E329Q Substitution - Missense Oesophagus COSM1495577 SETD2 c.5404G>T p.V1802F Substitution - Missense Kidney COSM1621726 TDRD6 c.2573delA p.M859fs*4 Deletion - Frameshift Liver COSM1625691 HCFC1 c.4705G>T p.E1569* Substitution - Nonsense Liver COSM1687445 ZMYM4 c.3142C>T p.L1048F Substitution - Missense Skin COSM1644033 KDM6A c.3253G>A p.G1085R Substitution - Missense Stomach COSM1698427 STK31 c.2765C>T p.S922F Substitution - Missense Skin COSM1699412 TIF1 c.1315C>T p.P439S Substitution - Missense Skin COSM1736936 TET2 c.3616G>A p.E1206K Substitution - Missense Central_nervous_system COSM1732214 PBRM1 c.4376C>T p.P1459L Substitution - Missense Kidney COSM1754256 NIPBL c.942C>T p.I314I Substitution - coding silent Urinary_tract COSM1756803 CHD4 c.3305G>A p.G1102E Substitution - Missense Urinary_tract COSM2098397 CHD4 c.4107T>C p.A1369A Substitution - coding silent Upper_aerodigestive_tract COSM2805007 BAHCC1 c.5685C>T p.Y1895Y Substitution - coding silent Prostate COSM3254005 MLL5 c.5319G>A p.P1773P Substitution - coding silent Large_intestine COSM3377105 ARID1A c.2296C>T p.Q766* Substitution - Nonsense Liver COSM3372444 BAZ2B c.3696C>T p.D1232D Substitution - coding silent Thyroid COSM3500899 BAHD1 c.872C>T p.P291L Substitution - Missense Skin COSM3461601 KMT2D c.2300C>T p.S767F Substitution - Missense Skin COSM3445300 PRDM10 c.570C>T p.G190G Substitution - coding silent Skin COSM3547332 EYA2 c.524C>T p.P175L Substitution - Missense Skin COSM3545552 NCOA6 c.5240C>T p.P1747L Substitution - Missense Skin COSM3703791 HNF1A c.775G>T p.V259F Substitution - Missense Liver COSM3708056 BRWD1 c.4968T>C p.C1656C Substitution - coding silent Liver COSM3723639 SMARCA1 c.2769A>C p.E923D Substitution - Missense Upper_aerodigestive_tract COSM3708718 ZMYM3 c.724C>T p.R242C Substitution - Missense Liver COSM3799428 ASXL1 c.1671C>G p.T557T Substitution - coding silent Urinary_tract COSM3810834 HCFC2 c.1399T>A p.S467T Substitution - Missense Breast COSM3799933 PRDM15 c.520C>T p.R174C Substitution - Missense Urinary_tract COSM3857698 HDAC2 c.917T>A p.I306N Substitution - Missense Stomach COSM3941513 EYA4 c.944C>G p.S315C Substitution - Missense Oesophagus COSM3824003 SETD2 c.3635T>G p.V1212G Substitution - Missense Breast COSM4006183 ARID1B c.4683G>A p.K1561K Substitution - coding silent Urinary_tract COSM4054368 BAHD1 c.1735C>T p.R579C Substitution - Missense Stomach COSM4042344 KMT2D c.12865C>G p.L4289V Substitution - Missense Stomach COSM3986706 KDM2B c.102G>A p.R34R Substitution - coding silent Kidney COSM3989561 SETBP1 c.3939C>T p.D1313D Substitution - coding silent Kidney COSM4104188 CBX7 c.233G>A p.R78Q Substitution - Missense Stomach COSM4065089 PHF12 c.2106C>T p.P702P Substitution - coding silent Stomach COSM4072013 INO80C c.98G>A p.S33N Substitution - Missense Stomach COSM4162014 KMT2C c.2534G>A p.G845E Substitution - Missense Thyroid COSM4385594 TET2 c.3105_3106insG p.H1036fs*7 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4407937 KMT2C c.5668C>T p.R1890* Substitution - Nonsense Oesophagus COSM4551834 JARID2 c.541G>A p.D181N Substitution - Missense Skin COSM4576241 SETDB1 c.1375C>G p.P459A Substitution - Missense Bone COSM4504329 PYGO1 c.662C>G p.S221C Substitution - Missense Skin COSM4515037 ZBTB4 c.995C>T p.S332L Substitution - Missense Skin COSM4666139 BRDT c.1325A>T p.Q442L Substitution - Missense Large_intestine COSM4767634 KMT2C c.5794G>A p.V1932I Substitution - Missense Biliary_tract COSM4679697 DUSP1 c.471G>A p.A157A Substitution - coding silent Large_intestine COSM4665067 BAHD1 c.2078C>T p.S693L Substitution - Missense Large_intestine COSM4659174 ACTR5 c.1203G>A p.P401P Substitution - coding silent Large_intestine COSM4614972 BRPF3 c.2554_2555insC p.E855fs*9 Insertion - Frameshift Large_intestine COSM4641766 CHD4 c.1792C>T p.R598* Substitution - Nonsense Large_intestine COSM4748550 SMYD4 c.1422A>C p.K474N Substitution - Missense Stomach COSM4800813 JMJD1C c.6641T>C p.I2214T Substitution - Missense Liver COSM4794635 WHSC1 c.515G>A p.S172N Substitution - Missense Liver COSM4919930 SMARCD2 c.281G>A p.R94Q Substitution - Missense Liver COSM4940394 HDGFL1 c.382G>A p.E128K Substitution - Missense Liver COSM4951256 KMT2D c.9935G>T p.R3312L Substitution - Missense Liver COSM4957405 SETD7 c.790G>C p.G264R Substitution - Missense Liver COSM5036242 SUV420H2 c.165C>A p.F55L Substitution - Missense Oesophagus COSM5034919 ZMYND8 c.100G>A p.E34K Substitution - Missense Oesophagus COSM5062012 ZCWPW1 c.1346C>A p.P449Q Substitution - Missense Stomach COSM5396450 SP140 c.282G>A p.V94V Substitution - coding silent Skin COSM5354970 DHX30 c.454delA p.S152fs*17 Deletion - Frameshift Large_intestine COSM5517953 ATXN7 c.126T>C p.P42P Substitution - coding silent Biliary_tract COSM5515466 ATF7IP c.1988G>T p.R663I Substitution - Missense Biliary_tract COSM5487297 ZBTB33 c.85G>T p.G29* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5424162 SMC1A c.3391G>A p.G1131R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5627258 NCOA7 c.2161G>T p.E721* Substitution - Nonsense Oesophagus COSM5639812 KDM3B c.2051C>A p.A684E Substitution - Missense Oesophagus COSM5671245 ATAD2B_ENST00000238789 c.4079-2A>T p.? Unknown Soft_tissue COSM5692648 SMARCA4 c.3386C>G p.T1129S Substitution - Missense Soft_tissue COSM5690861 HDAC9 c.1161G>T p.E387D Substitution - Missense Soft_tissue COSM5662307 JHDM1D c.1933G>T p.V645L Substitution - Missense Soft_tissue COSM5799419 PHF20 c.88C>T p.P30S Substitution - Missense Breast COSM5806250 SETDB2 c.1850G>T p.S617I Substitution - Missense Liver COSM5948814 EZH2 c.791T>C p.I264T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5936998 IDH1 c.833C>T p.S278L Substitution - Missense Skin COSM5906244 TAF1 c.5176G>A p.E1726K Substitution - Missense Skin COSM5933947 SMARCA4 c.1696G>A p.E566K Substitution - Missense Skin COSM5922767 SMARCA2 c.3350C>T p.S1117F Substitution - Missense Skin COSM5945937 ARID1A c.1721C>T p.S574F Substitution - Missense Skin COSM5969334 EYA3 c.612T>G p.G204G Substitution - coding silent Upper_aerodigestive_tract COSM5998930 KAT6B c.606C>A p.P202P Substitution - coding silent Prostate COSM5994170 NCOA1 c.1670G>T p.S557I Substitution - Missense Prostate COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM5885282 NCOA2 c.? p.S662L Substitution - Missense Breast COSM51384 IDH1 c.? p.R132L Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM42011 TET2 c.5615T>C p.L1872P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Pancreas COSM307759 TET2 c.? p.L34F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM220496 CREBBP c.4307G>A p.S1436N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4733310 TFPT c.589C>T p.R197W Substitution - Missense Large_intestine COSM695870 MPHOSPH8 c.1574C>T p.S525L Substitution - Missense Lung COSM4495801 NIPBL c.460C>T p.R154W Substitution - Missense Skin COSM4397398 MORF4L1 c.797T>C p.V266A Substitution - Missense Skin COSM21481 HNF1A c.872_873insC p.G292fs*25 Insertion - Frameshift Liver COSM1663472 PHF16 c.16C>T p.P6S Substitution - Missense Kidney COSM923591 KMT2A c.7478C>T p.S2493F Substitution - Missense Endometrium COSM5070338 SP110 c.1521A>G p.K507K Substitution - coding silent Large_intestine COSM3988470 CREBBP c.3148G>T p.E1050* Substitution - Nonsense Kidney COSM5458146 SFMBT2 c.1985-1G>A p.? Unknown Large_intestine COSM5945584 PHF6 c.375-2A>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM296860 RAI1 c.3096_3097insC p.Q1035fs*31 Insertion - Frameshift Oesophagus COSM3920768 SIRT5 c.38C>T p.S13F Substitution - Missense Skin COSM293366 CREBBP c.2178C>T p.P726P Substitution - coding silent Large_intestine COSM954440 CHD8 c.3274C>T p.R1092C Substitution - Missense Soft_tissue COSM3836954 MBD5 c.2232G>T p.M744I Substitution - Missense Breast COSM3805965 RERE c.1907T>G p.V636G Substitution - Missense Breast COSM245709 KMT2C c.13645C>T p.R4549C Substitution - Missense Pancreas COSM2967894 KDM5C c.3765G>A p.L1255L Substitution - coding silent Large_intestine COSM5831837 KDM2A c.2531delC p.Q846fs*33 Deletion - Frameshift Breast COSM2753081 PRMT1 c.143G>A p.R48H Substitution - Missense Stomach COSM3523579 BAHCC1 c.1387C>T p.P463S Substitution - Missense Skin COSM5423257 SMARCC2 c.230C>T p.P77L Substitution - Missense Prostate COSM3812823 CHD4 c.4224T>G p.G1408G Substitution - coding silent Breast COSM452418 TRIM24 c.404C>G p.A135G Substitution - Missense Breast COSM3952281 PHF19 c.614+5G>A p.? Unknown Lung COSM5471959 BRD8 c.2537G>A p.S846N Substitution - Missense Large_intestine COSM4660054 ADNP c.2715C>T p.N905N Substitution - coding silent Large_intestine COSM5989784 IDH1 c.565A>G p.I189V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2218395 PYGO1 c.17C>T p.S6F Substitution - Missense Large_intestine COSM473536 BAHCC1 c.5778G>A p.E1926E Substitution - coding silent Kidney COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Biliary_tract COSM934518 PRDM4 c.2089A>G p.T697A Substitution - Missense Endometrium COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM3033658 MECP2 c.1164A>C p.P388P Substitution - coding silent Prostate COSM3837125 BAZ2B c.4854A>C p.S1618S Substitution - coding silent Breast COSM1495380 MBD4 c.729T>A p.I243I Substitution - coding silent Kidney COSM5346963 ARID1A c.5490_5491insC p.L1831fs*8 Insertion - Frameshift Endometrium COSM1740684 EYA2 c.933G>T p.M311I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM20551 TRRAP c.5117G>A p.R1706H Substitution - Missense Stomach COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1107165 EHMT1 c.176G>A p.R59Q Substitution - Missense Endometrium COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM1236634 HCFC2 c.988T>C p.W330R Substitution - Missense Autonomic_ganglia COSM5607230 ZMYM4 c.2597C>T p.S866F Substitution - Missense Skin COSM1600294 ASXL3 c.877G>A p.E293K Substitution - Missense Skin COSM1628114 PHRF1 c.1657G>T p.G553* Substitution - Nonsense Liver COSM416143 BAZ2A c.4088C>G p.S1363* Substitution - Nonsense Urinary_tract COSM5812973 LMNB1 c.932A>T p.Q311L Substitution - Missense Liver COSM972506 CTCF c.1844_1845insT p.E616fs*1 Insertion - Frameshift Endometrium COSM3930325 PRDM2 c.2878C>T p.Q960* Substitution - Nonsense Urinary_tract COSM3879525 KMT2C c.11008A>G p.N3670D Substitution - Missense Stomach COSM3812553 SMARCC2 c.2546T>G p.V849G Substitution - Missense Breast COSM3203542 MECOM c.2499T>C p.G833G Substitution - coding silent Oesophagus COSM255014 KDM6A c.2995G>T p.E999* Substitution - Nonsense Urinary_tract COSM5219850 CHD9 c.5780delG p.R1927fs*5 Deletion - Frameshift Breast COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5945023 TET2 c.1909G>T p.E637* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM2007074 KMT2D c.6591T>G p.H2197Q Substitution - Missense Large_intestine COSM1620413 C5orf35 c.1A>G p.M1V Substitution - Missense Liver COSM1054415 WHSC1 c.125G>A p.R42H Substitution - Missense Endometrium COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Prostate COSM308457 PBRM1 c.446delA p.N149fs*25 Deletion - Frameshift Kidney COSM703229 SETD1A c.2866C>T p.R956C Substitution - Missense Lung COSM28787 KDM6A c.2654_2663del10 p.M885fs*10 Deletion - Frameshift Kidney COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1680496 LMNB2 c.671T>C p.V224A Substitution - Missense Large_intestine COSM145369 EP300 c.5368T>G p.C1790G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1236669 ARID1B c.3959+4A>G p.? Unknown Autonomic_ganglia COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM116023 PRDM16 c.2209C>G p.L737V Substitution - Missense Ovary COSM3911481 NCOA5 c.1612C>T p.P538S Substitution - Missense Skin COSM5044478 PBRM1 c.1302-3C>G p.? Unknown Kidney COSM981675 AKAP1 c.219T>C p.S73S Substitution - coding silent Endometrium COSM3732671 NIPBL c.4543G>A p.E1515K Substitution - Missense Stomach COSM5702439 ZMYM3 c.1656_1657CC>AA p.S552_L553>RI Complex - compound substitution Soft_tissue COSM5945463 EP300 c.5455C>T p.Q1819* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM452421 TRIM24 c.652C>T p.Q218* Substitution - Nonsense Breast COSM1095769 ATAD2 c.1160G>A p.C387Y Substitution - Missense Endometrium COSM4959999 DNMT1 c.416G>A p.R139K Substitution - Missense Liver COSM939271 KDM5A c.2345G>A p.R782Q Substitution - Missense Oesophagus COSM5979849 SUV39H2 c.199A>G p.I67V Substitution - Missense Upper_aerodigestive_tract COSM3426190 SP100 c.2146T>G p.L716V Substitution - Missense Large_intestine COSM4837837 KAT5 c.563C>T p.S188L Substitution - Missense Cervix COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3802187 LMNA c.1700G>T p.G567V Substitution - Missense Breast COSM1220360 PHF2 c.1204C>A p.L402I Substitution - Missense Large_intestine COSM285640 TDRD3 c.1345A>C p.I449L Substitution - Missense Large_intestine COSM4754160 KDM6A c.4011G>T p.E1337D Substitution - Missense Stomach COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Central_nervous_system COSM5369174 MTA2 c.1262A>C p.H421P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5518633 NSD1 c.5788C>T p.R1930C Substitution - Missense Biliary_tract COSM4101714 PRDM15 c.2023A>G p.T675A Substitution - Missense Stomach COSM4108455 SCML2 c.1842A>G p.V614V Substitution - coding silent Stomach COSM1109463 KIAA2026_ENST00000399933 c.2862G>A p.K954K Substitution - coding silent Endometrium COSM6005349 SUV39H1 c.1162C>T p.L388F Substitution - Missense Prostate COSM1213490 LMNB2 c.731G>A p.R244Q Substitution - Missense Stomach COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5407045 KMT2C c.9797G>C p.R3266P Substitution - Missense Skin COSM4299546 CBX6 c.948C>T p.S316S Substitution - coding silent Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Salivary_gland COSM6005349 SUV39H1 c.1162C>T p.L388F Substitution - Missense Prostate COSM1330046 TRIM24 c.2037A>C p.V679V Substitution - coding silent Ovary COSM1327059 MSH6 c.2386G>A p.E796K Substitution - Missense Ovary COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4958951 TRIM28 c.588G>A p.G196G Substitution - coding silent Liver COSM1411835 CHD6 c.4600C>T p.R1534C Substitution - Missense Large_intestine COSM1009804 ATF2 c.1359G>T p.Q453H Substitution - Missense Endometrium COSM1158211 CXXC1 c.598delC p.R200fs*27 Deletion - Frameshift Pancreas COSM1629309 METTL21D c.450+4A>C p.? Unknown Liver COSM3495802 BAZ1A c.4508C>T p.S1503L Substitution - Missense Stomach COSM369386 SMARCA1 c.2226G>T p.M742I Substitution - Missense Lung COSM707538 BPTF c.3828A>T p.E1276D Substitution - Missense Lung COSM5724125 HDAC7 c.978G>A p.G326G Substitution - coding silent Skin COSM4970577 SETDB1 c.3537A>G p.S1179S Substitution - coding silent Central_nervous_system COSM1734848 KDM5C c.592C>T p.R198* Substitution - Nonsense Pancreas COSM476223 HAT1 c.341T>G p.I114S Substitution - Missense Kidney COSM1220351 PHF19 c.466-1G>A p.? Unknown Large_intestine COSM4897041 CHD3 c.4225-1G>A p.? Unknown Skin COSM3890609 CBX4 c.689C>T p.P230L Substitution - Missense Skin COSM390189 DIDO1 c.483G>C p.L161F Substitution - Missense Lung COSM126106 SETD1A c.4915G>A p.G1639S Substitution - Missense Upper_aerodigestive_tract COSM4445247 MEN1 c.812G>C p.G271A Substitution - Missense Adrenal_gland COSM3650675 PRDM14 c.612C>T p.F204F Substitution - coding silent Skin COSM4694926 KDM3A c.1122G>T p.Q374H Substitution - Missense Large_intestine COSM34192 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4450099 PRDM2 c.4438delA p.K1481fs*83 Deletion - Frameshift Large_intestine COSM468037 EP400 c.8226A>G p.Q2742Q Substitution - coding silent Prostate COSM342319 TDRD5 c.828C>A p.N276K Substitution - Missense Lung COSM1629913 BRD7 c.1365T>G p.Y455* Substitution - Nonsense Liver COSM965435 MORF4L1 c.46C>T p.R16* Substitution - Nonsense Stomach COSM3734202 HDAC4 c.842A>T p.K281I Substitution - Missense Pancreas COSM234254 IDH1 c.592C>T p.Q198* Substitution - Nonsense Skin COSM5736038 MSH6 c.3722G>A p.C1241Y Substitution - Missense Small_intestine COSM5352315 EP300 c.? p.M187L Substitution - Missense Endometrium COSM3562294 KDM5C c.714C>T p.I238I Substitution - coding silent Skin COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4819516 KMT2C c.3216G>C p.Q1072H Substitution - Missense Cervix COSM100082 KMT2C c.8390_8390delA p.K2797fs*26 Deletion - Frameshift Large_intestine COSM5718813 NCOA3 c.217A>G p.K73E Substitution - Missense Skin COSM5893658 EP400 c.7222C>T p.R2408C Substitution - Missense Skin COSM5782861 BRPF3 c.56C>G p.S19C Substitution - Missense Breast COSM5575742 TRRAP c.622G>A p.E208K Substitution - Missense Stomach COSM5978455 BAZ2B c.1394C>T p.S465F Substitution - Missense Upper_aerodigestive_tract COSM3931546 HNF1A c.1375C>T p.L459L Substitution - coding silent Liver COSM217018 ARID2 c.2134G>T p.E712* Substitution - Nonsense Liver COSM5804844 MECOM c.633T>A p.A211A Substitution - coding silent Liver COSM4011747 TDRD1 c.1329G>A p.M443I Substitution - Missense Stomach COSM1209377 HDAC4 c.703G>A p.A235T Substitution - Missense Large_intestine COSM5574739 MBD1 c.156C>G p.Y52* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5959281 KDM6B c.2716C>G p.P906A Substitution - Missense Upper_aerodigestive_tract COSM6010964 SMARCC1 c.34A>G p.T12A Substitution - Missense Skin COSM4993086 MYST3 c.5299C>T p.H1767Y Substitution - Missense Skin COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4412390 KAT2A c.2134+1G>A p.? Unknown Oesophagus COSM5954763 RSF1 c.1114G>A p.E372K Substitution - Missense Upper_aerodigestive_tract COSM3514756 RAI1 c.2829G>A p.E943E Substitution - coding silent Skin COSM3664780 CTCF c.1425G>T p.V475V Substitution - coding silent Breast COSM87009 DNMT3A c.2312G>T p.R771L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM133126 DNMT3A c.2204A>G p.Y735C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5588255 MBD5 c.31G>T p.D11Y Substitution - Missense Skin COSM2270855 MGA c.5062G>A p.E1688K Substitution - Missense Large_intestine COSM4728322 SMARCC1 c.3140G>A p.G1047D Substitution - Missense Large_intestine COSM144509 TET2 c.5752G>T p.E1918* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM72108 PCGF1 c.508A>G p.K170E Substitution - Missense Ovary COSM1328820 NIPBL c.3783A>C p.K1261N Substitution - Missense Ovary COSM4728364 SMC1A c.3334A>G p.N1112D Substitution - Missense Large_intestine COSM1317565 ACTA1 c.762C>T p.N254N Substitution - coding silent Stomach COSM971508 FTO c.3_24del22 p.K2fs*9 Deletion - Frameshift Endometrium COSM3633858 TRIM24 c.2285C>T p.S762F Substitution - Missense Skin COSM4951787 HDAC5 c.240C>G p.L80L Substitution - coding silent Liver COSM3567431 MBD5 c.355C>T p.P119S Substitution - Missense Skin COSM1124872 TAF1 c.1094G>A p.G365D Substitution - Missense Endometrium COSM3836953 MBD5 c.1439A>T p.Q480L Substitution - Missense Breast COSM5818788 SP140_ENST00000392045 c.1124A>T p.E375V Substitution - Missense Liver COSM4771413 PBRM1 c.3095_3096TA>AAA p.L1032fs*14 Complex - frameshift Kidney COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM1754518 EYA4 c.822A>T p.T274T Substitution - coding silent Urinary_tract COSM5558347 TAF1L c.2994A>G p.K998K Substitution - coding silent Prostate COSM548236 KDM5A c.3649C>T p.R1217W Substitution - Missense Pituitary COSM5471625 SMYD1 c.959G>A p.R320H Substitution - Missense Large_intestine COSM52918 BAP1 c.1984-1G>T p.? Unknown Eye COSM1122186 HDAC6 c.1182C>T p.G394G Substitution - coding silent Endometrium COSM85808 DAXX c.889G>C p.A297P Substitution - Missense Pancreas COSM4663270 ARID2 c.3135G>A p.S1045S Substitution - coding silent Large_intestine COSM274040 ARID2 c.541A>G p.T181A Substitution - Missense Large_intestine COSM247140 RSF1 c.3967C>T p.R1323C Substitution - Missense Prostate COSM981682 AKAP1 c.1077A>G p.A359A Substitution - coding silent Endometrium COSM1638752 KMT2A c.1507C>T p.R503W Substitution - Missense Stomach COSM1700049 MYST3 c.2009C>T p.S670L Substitution - Missense Skin COSM5553480 KMT2C c.13807G>T p.E4603* Substitution - Nonsense Prostate COSM1493671 FTO c.1215A>G p.A405A Substitution - coding silent Kidney COSM1611510 CARM1 c.305T>C p.L102P Substitution - Missense Liver COSM4005133 HDAC6 c.2883T>G p.I961M Substitution - Missense Urinary_tract COSM417166 RAI1 c.4652C>T p.S1551L Substitution - Missense Skin COSM4805713 EYA1 c.1318C>A p.R440R Substitution - coding silent Liver COSM1233516 ZMYM1 c.937A>C p.K313Q Substitution - Missense Large_intestine COSM1187891 TAF3 c.173G>T p.R58L Substitution - Missense Lung COSM3812677 MBD6 c.555C>T p.F185F Substitution - coding silent Breast COSM1717481 TET2 c.3711G>A p.P1237P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5673748 PRDM9 c.1033C>G p.R345G Substitution - Missense Soft_tissue COSM1201006 CHD7 c.5960C>A p.P1987H Substitution - Missense Large_intestine COSM3547383 NCOA3 c.3486C>T p.P1162P Substitution - coding silent Skin COSM5983717 BAZ2A_ENST00000379441 c.2910G>A p.Q970Q Substitution - coding silent Upper_aerodigestive_tract COSM4061224 FTO c.289A>G p.I97V Substitution - Missense Stomach COSM942083 MBD6 c.970_971delCT p.S325fs*60 Deletion - Frameshift Endometrium COSM4390372 MGA c.2738C>T p.S913L Substitution - Missense Urinary_tract COSM87002 DNMT3A c.1627G>T p.G543C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5458978 MSH6 c.3299C>T p.T1100M Substitution - Missense Large_intestine COSM1311077 PRDM9 c.1970G>C p.R657T Substitution - Missense Urinary_tract COSM1676464 KMT2A c.3185C>A p.S1062Y Substitution - Missense Large_intestine COSM5411507 PHF2 c.494C>T p.T165I Substitution - Missense Skin COSM1696939 JARID2 c.3382A>G p.K1128E Substitution - Missense Skin COSM4982613 NCOR1 c.1218G>A p.M406I Substitution - Missense Oesophagus COSM1706555 RNF17 c.1082C>T p.S361F Substitution - Missense Skin COSM404514 ASXL3 c.495A>C p.V165V Substitution - coding silent Lung COSM4590050 PRDM10 c.1332A>C p.E444D Substitution - Missense Upper_aerodigestive_tract COSM4608612 GLYR1 c.34G>T p.V12L Substitution - Missense Adrenal_gland COSM3545258 ASXL1 c.3817C>T p.R1273C Substitution - Missense Upper_aerodigestive_tract COSM4789343 HDAC9 c.1401T>A p.I467I Substitution - coding silent Liver COSM1754766 BRPF3 c.378C>T p.I126I Substitution - coding silent Urinary_tract COSM5453504 TET2 c.2561T>C p.F854S Substitution - Missense Large_intestine COSM5694748 BAZ2B c.5455-1G>A p.? Unknown Soft_tissue COSM710132 SMARCA4 c.326C>T p.P109L Substitution - Missense Lung COSM3758148 NCOA1 c.3814C>T p.P1272S Substitution - Missense Soft_tissue COSM5364102 MBTD1 c.1183C>T p.P395S Substitution - Missense Large_intestine COSM51442 ARID1A c.5566C>T p.Q1856* Substitution - Nonsense Skin COSM4885766 CHD9 c.3241C>T p.R1081* Substitution - Nonsense Upper_aerodigestive_tract COSM445922 MECOM c.1395G>A p.A465A Substitution - coding silent Breast COSM1087629 KMT2C c.3313C>T p.Q1105* Substitution - Nonsense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5966784 DIDO1 c.883G>T p.D295Y Substitution - Missense Adrenal_gland COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5930005 CHD6 c.6430G>A p.E2144K Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4095557 SMYD5 c.755T>C p.L252P Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM329003 KDM3A c.1663C>T p.R555C Substitution - Missense Liver COSM1580525 ARID1A c.1887C>A p.N629K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3508930 SRCAP c.8921C>T p.P2974L Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5720372 BRD8 c.3665G>A p.G1222E Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM237597 KDM4B c.2736+7G>A p.? Unknown Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM296782 PRDM10 c.2296C>T p.R766C Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM46441 HNF1A c.931_932GC>ACCTA p.A311>TY Complex - insertion inframe Liver COSM3649302 MYST3 c.2176G>A p.D726N Substitution - Missense Skin COSM4060954 GLYR1 c.737C>A p.T246N Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5629913 JHDM1D c.730A>G p.I244V Substitution - Missense Oesophagus COSM1185729 SMYD2 c.506A>C p.N169T Substitution - Missense Lung COSM5568866 ZMYND8 c.2525C>G p.S842* Substitution - Nonsense Prostate COSM4495140 DNMT1 c.4430C>T p.S1477F Substitution - Missense Skin COSM4072235 SETBP1 c.2080G>T p.A694S Substitution - Missense Stomach COSM381162 ZGPAT c.151G>A p.E51K Substitution - Missense Lung COSM4789608 SETD1A c.4233G>A p.P1411P Substitution - coding silent Liver COSM1118563 RBBP7 c.941C>A p.S314Y Substitution - Missense Endometrium COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM753794 SMARCA2 c.2301G>A p.M767I Substitution - Missense Lung COSM5945878 ATRX c.6375T>A p.N2125K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1363344 MBD6 c.2006delC p.P671fs*4 Deletion - Frameshift Large_intestine COSM1087434 SMARCD3 c.992T>G p.V331G Substitution - Missense Endometrium COSM351482 MLL5 c.292G>C p.D98H Substitution - Missense Lung COSM1406130 SP100 c.1531G>A p.A511T Substitution - Missense Large_intestine COSM5805585 KDM6A c.30C>T p.T10T Substitution - coding silent Liver COSM4956255 KDM6B c.3818C>T p.S1273F Substitution - Missense Liver COSM979867 HDAC5 c.1479G>A p.L493L Substitution - coding silent Endometrium COSM970129 MYST1 c.598G>A p.D200N Substitution - Missense Endometrium COSM1741812 PHIP c.3088A>G p.T1030A Substitution - Missense Urinary_tract COSM3968630 TDRD3 c.1411A>G p.I471V Substitution - Missense Central_nervous_system COSM3829741 KDM1B c.142A>G p.K48E Substitution - Missense Breast COSM5413498 TRRAP c.5812A>G p.T1938A Substitution - Missense Skin COSM1047225 SFMBT1 c.1020G>T p.K340N Substitution - Missense Endometrium COSM3296114 MBD5 c.852T>C p.P284P Substitution - coding silent Upper_aerodigestive_tract COSM149089 SP110 c.383C>T p.A128V Substitution - Missense Stomach COSM3405981 PHF6 c.943G>C p.E315Q Substitution - Missense Central_nervous_system COSM1540734 PRDM8 c.505C>T p.P169S Substitution - Missense Skin COSM162506 KMT2C c.8900A>C p.N2967T Substitution - Missense Breast COSM487505 UHRF2 c.230C>G p.P77R Substitution - Missense Kidney COSM26948 L3MBTL1 c.1317G>A p.W439* Substitution - Nonsense Skin COSM22620 MEN1 c.989G>C p.R330P Substitution - Missense Pancreas COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1002 SMARCB1 c.118C>T p.R40* Substitution - Nonsense Soft_tissue COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM36205 ASXL1 c.3306G>T p.E1102D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53004 EZH2 c.1691_1691delG p.G564fs*111 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM77600 DNMT1 c.4145C>T p.S1382L Substitution - Missense Ovary COSM79281 SETD2 c.1438G>T p.E480* Substitution - Nonsense Ovary COSM87106 TET2 c.2527G>T p.E843* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM110748 TET2 c.3813_3813delC p.C1271fs*92 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM126870 PHC3 c.298C>T p.Q100* Substitution - Nonsense Upper_aerodigestive_tract COSM146113 ZBTB38 c.1924C>T p.P642S Substitution - Missense Soft_tissue COSM133732 DNMT3A c.2312G>A p.R771Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM211895 PHF3 c.280G>T p.V94F Substitution - Missense Breast COSM215946 CLOCK c.769T>G p.L257V Substitution - Missense Central_nervous_system COSM249142 DNMT3A c.2185C>T p.R729W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM249313 KMT2C c.13889C>A p.P4630H Substitution - Missense Kidney COSM236082 CXXC1 c.1023G>T p.K341N Substitution - Missense Autonomic_ganglia COSM298374 PRDM1 c.968C>T p.T323M Substitution - Missense Large_intestine COSM311724 HDAC6 c.1585C>T p.R529C Substitution - Missense Lung COSM307120 SETD8 c.267C>T p.A89A Substitution - coding silent Prostate COSM305992 EP300 c.4916T>C p.L1639P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM317919 PRMT5 c.993C>A p.P331P Substitution - coding silent Lung COSM339354 CARM1 c.574G>T p.G192C Substitution - Missense Lung COSM377105 TDRD10 c.847G>A p.D283N Substitution - Missense Lung COSM417808 L3MBTL4 c.769C>G p.L257V Substitution - Missense Urinary_tract COSM430756 EP400 c.5956G>C p.V1986L Substitution - Missense Breast COSM450465 L3MBTL3 c.1516A>G p.K506E Substitution - Missense Breast COSM549167 BAZ2A c.5763C>T p.I1921I Substitution - coding silent Bone COSM980868 MYST2 c.1643C>T p.T548M Substitution - Missense Endometrium COSM480423 PBRM1 c.1112C>G p.S371* Substitution - Nonsense Kidney COSM915024 TDRD1 c.2220G>T p.K740N Substitution - Missense Endometrium COSM915028 TDRD1 c.3315G>T p.E1105D Substitution - Missense Endometrium COSM687405 RAG2 c.1438G>C p.E480Q Substitution - Missense Lung COSM1050495 PRDM5 c.1672C>T p.R558* Substitution - Nonsense Large_intestine COSM1628306 KDM4D c.12G>T p.M4I Substitution - Missense Liver COSM939525 ARID2 c.5148G>A p.K1716K Substitution - coding silent Endometrium COSM735554 KDM3B c.294G>T p.W98C Substitution - Missense Lung COSM930501 KAT5 c.1456G>A p.E486K Substitution - Missense Endometrium COSM990750 SMARCA4 c.2758G>A p.E920K Substitution - Missense Skin COSM1041686 FXR1 c.119G>A p.R40H Substitution - Missense Endometrium COSM1058048 PRDM8 c.70G>T p.D24Y Substitution - Missense Endometrium COSM1060890 PHF15 c.778C>T p.R260* Substitution - Nonsense Large_intestine COSM1130643 PHF20 c.83+2T>G p.? Unknown Prostate COSM1602786 BRDT c.1610T>C p.I537T Substitution - Missense Liver COSM1087635 KMT2C c.3234C>T p.C1078C Substitution - coding silent Endometrium COSM1084071 PHF14 c.2194_2196delAAG p.K733delK Deletion - In frame Endometrium COSM1209181 GTF3C4 c.1669T>G p.L557V Substitution - Missense Large_intestine COSM1184883 BRD1 c.643G>A p.A215T Substitution - Missense Large_intestine COSM1183855 ATAD2 c.4130A>G p.Q1377R Substitution - Missense Large_intestine COSM1263125 PRMT2 c.48G>A p.E16E Substitution - coding silent Stomach COSM1161163 CREBBP c.4243C>T p.Q1415* Substitution - Nonsense Skin COSM1158712 ATRX c.2763C>T p.V921V Substitution - coding silent Pancreas COSM1315853 EZH2 c.1526G>C p.R509T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1288430 TET2 c.2144A>G p.N715S Substitution - Missense Autonomic_ganglia COSM1399845 MBD5 c.1501A>C p.R501R Substitution - coding silent Large_intestine COSM1450081 STK31 c.2024G>A p.R675H Substitution - Missense Large_intestine COSM1442330 PHF10 c.108A>G p.R36R Substitution - coding silent Large_intestine COSM1367376 SETDB2 c.1510delA p.M506fs*24 Deletion - Frameshift Large_intestine COSM1365711 ZMYM2 c.519T>C p.G173G Substitution - coding silent Large_intestine COSM1511176 EP400 c.7527G>C p.P2509P Substitution - coding silent Thyroid COSM1474231 RERE c.30_35delCAAAGA p.D10_K11delDK Deletion - In frame Genital_tract COSM1469183 ZMYM3 c.1416C>T p.H472H Substitution - coding silent Large_intestine COSM1667288 ARID1A c.2618C>T p.A873V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1659757 BAP1 c.2072delT p.L691fs*>39 Deletion - Frameshift Kidney COSM2019080 RSF1 c.768G>T p.E256D Substitution - Missense Large_intestine COSM2068399 KDM5A c.491G>T p.R164I Substitution - Missense Large_intestine COSM2078154 RBBP4 c.515G>A p.R172H Substitution - Missense Stomach COSM2157700 FTO c.128_129insG p.L44fs*5 Insertion - Frameshift Central_nervous_system COSM2153719 BRD1 c.176T>C p.I59T Substitution - Missense Central_nervous_system COSM2221619 EED c.413A>T p.Y138F Substitution - Missense Large_intestine COSM2828729 SETD5_ENST00000402198 c.219T>C p.P73P Substitution - coding silent Upper_aerodigestive_tract COSM3365342 SETD2 c.5841+1G>C p.? Unknown Kidney COSM3405791 MORF4L2 c.185G>A p.R62H Substitution - Missense Central_nervous_system COSM3399264 MPHOSPH8 c.1736A>G p.Y579C Substitution - Missense Central_nervous_system COSM3479293 TDRD5 c.1225C>T p.P409S Substitution - Missense Skin COSM3488882 ZMYM4 c.1426C>T p.R476C Substitution - Missense Skin COSM3431049 MLL5 c.557-2A>C p.? Unknown Large_intestine COSM3473539 SETDB1 c.2674A>G p.N892D Substitution - Missense Skin COSM3474973 ASH1L c.2627C>T p.S876F Substitution - Missense Skin COSM3614514 NSD1 c.6031C>T p.P2011S Substitution - Missense Skin COSM3514754 RAI1 c.2815C>T p.Q939* Substitution - Nonsense Skin COSM3650705 EYA1 c.1605A>T p.E535D Substitution - Missense Skin COSM3699126 CHD7 c.5405-1G>T p.? Unknown Large_intestine COSM3774743 FXR1 c.48C>T p.Y16Y Substitution - coding silent Urinary_tract COSM3871116 EP400 c.131C>T p.P44L Substitution - Missense Skin COSM3951755 CHD7 c.6716A>T p.E2239V Substitution - Missense Lung COSM4021112 TTF2 c.2437A>G p.T813A Substitution - Missense Stomach COSM4015668 SFMBT2 c.370G>C p.V124L Substitution - Missense Stomach COSM4124023 WHSC1 c.3995C>T p.S1332L Substitution - Missense Stomach COSM4068937 BPTF c.7371G>T p.Q2457H Substitution - Missense Stomach COSM4058019 CHD2 c.1171T>C p.S391P Substitution - Missense Stomach COSM4130771 CHD3 c.4322T>G p.V1441G Substitution - Missense Thyroid COSM4134465 NCOA6 c.2305C>G p.Q769E Substitution - Missense Thyroid COSM4145728 PHF21A c.975C>A p.S325R Substitution - Missense Upper_aerodigestive_tract COSM4170079 ARID1B c.165_166insCAGCAG p.Q73_H74insQQ Insertion - In frame Haematopoietic_and_lymphoid_tissue COSM4385558 DNMT3A c.805_806insG p.A269fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4388198 PRMT10 c.1839C>T p.D613D Substitution - coding silent Pancreas COSM4387472 EP300 c.4409T>C p.M1470T Substitution - Missense Oesophagus COSM4406537 SMARCA4 c.957A>C p.P319P Substitution - coding silent Pancreas COSM4420002 CREBBP c.6551G>A p.S2184N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4579082 CHD9 c.189G>A p.Q63Q Substitution - coding silent Bone COSM4508820 KDM2A c.788C>G p.S263* Substitution - Nonsense Skin COSM4557186 MGA c.7329G>A p.R2443R Substitution - coding silent Skin COSM4422030 TDG c.1175T>G p.I392S Substitution - Missense Pleura COSM4410866 KDM2B c.2805delT p.H936fs*4 Deletion - Frameshift Kidney COSM4666192 BRPF1 c.823_824insT p.C276fs*6 Insertion - Frameshift Large_intestine COSM4665055 BAHCC1 c.6668delG p.C2223fs*198 Deletion - Frameshift Large_intestine COSM4652268 KMT2D c.11621A>G p.Q3874R Substitution - Missense Large_intestine COSM4606367 PHF6 c.385C>T p.R129* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4750566 RAI1 c.3725G>A p.R1242Q Substitution - Missense Stomach COSM4800499 KDM6A c.1024A>T p.I342F Substitution - Missense Liver COSM4890074 C5orf35 c.93C>A p.N31K Substitution - Missense Upper_aerodigestive_tract COSM4844459 ZCWPW1 c.1375G>A p.E459K Substitution - Missense Cervix COSM4834085 MBD6 c.1592G>C p.G531A Substitution - Missense Cervix COSM4819096 KDM2A c.2238C>G p.S746R Substitution - Missense Cervix COSM4955112 TRIM66 c.83C>G p.S28C Substitution - Missense Liver COSM4954514 BAP1 c.1909A>T p.K637* Substitution - Nonsense Liver COSM4992294 NSD1 c.2226C>T p.P742P Substitution - coding silent Skin COSM4981330 MGA c.3568C>T p.Q1190* Substitution - Nonsense Oesophagus COSM5016700 KDM6A c.550_551delGA p.E184fs*2 Deletion - Frameshift Kidney COSM5064764 PHF8 c.1516C>T p.R506* Substitution - Nonsense Stomach COSM5080674 PHF12 c.1959G>A p.P653P Substitution - coding silent Large_intestine COSM5135397 SMYD3 c.354+3_354+6delAAGT p.? Unknown Large_intestine COSM5218200 KMT2D c.5524delG p.A1842fs*32 Deletion - Frameshift Breast COSM5347000 ARID1A c.6273G>A p.W2091* Substitution - Nonsense Endometrium COSM5384989 CHD9 c.7878G>A p.E2626E Substitution - coding silent Skin COSM5428734 SMEK2 c.1000G>T p.V334F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5431122 SP140_ENST00000392045 c.429C>G p.L143L Substitution - coding silent Oesophagus COSM5427462 MYST2 c.1647T>C p.A549A Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5455562 KMT2C c.13328A>G p.Q4443R Substitution - Missense Large_intestine COSM5576100 KMT2D c.3271G>A p.V1091M Substitution - Missense Stomach COSM5626039 RAG2 c.80A>G p.Q27R Substitution - Missense Oesophagus COSM5769141 C20orf20 c.148+8C>G p.? Unknown Breast COSM5752146 ASXL1 c.1866_1869delGCAG p.Q623fs*79 Deletion - Frameshift Breast COSM5667333 HDAC1 c.691G>T p.G231W Substitution - Missense Soft_tissue COSM5690950 MYST3 c.2806C>T p.P936S Substitution - Missense Soft_tissue COSM5570875 KAT6B c.5907G>A p.V1969V Substitution - coding silent Prostate COSM5552876 SMARCA1 c.459A>T p.E153D Substitution - Missense Prostate COSM5571854 PHF3 c.2295C>T p.V765V Substitution - coding silent Prostate COSM5774420 BAHCC1 c.6025+2T>A p.? Unknown Breast COSM5803849 ATRX c.2937A>G p.E979E Substitution - coding silent Liver COSM5944377 ASXL1 c.1888_1892delCACCA p.H630fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5945575 PHF6 c.241-1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5990207 HNF1A c.1072_1073CC>TACAGGCTCA p.P358fs*9 Complex - frameshift Liver COSM5970781 BAZ2A c.1718G>T p.G573V Substitution - Missense Upper_aerodigestive_tract COSM6002785 CBX8 c.679A>G p.K227E Substitution - Missense Prostate COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM53140 TET2 c.? p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM33667 SMARCB1 c.628_629ins? p.? Unknown Central_nervous_system COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM971408 CHD9 c.575C>A p.S192Y Substitution - Missense Breast COSM204985 EHMT1 c.1161G>A p.S387S Substitution - coding silent Breast COSM5000343 TBL1XR1 c.1508C>T p.S503L Substitution - Missense Pancreas COSM3166396 ATAD2 c.40T>C p.S14P Substitution - Missense Large_intestine COSM234843 KDM4A c.1944T>A p.P648P Substitution - coding silent Skin COSM4950702 DNMT1 c.787G>T p.D263Y Substitution - Missense Liver COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM314668 RAG2 c.1496delA p.K499fs*4 Deletion - Frameshift Soft_tissue COSM1217942 NSD1 c.6199A>G p.K2067E Substitution - Missense Large_intestine COSM5715231 KMT2D c.3209A>T p.D1070V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2158501 JMJD1C c.2448T>C p.F816F Substitution - coding silent Skin COSM176558 NIPBL c.134G>A p.R45Q Substitution - Missense Large_intestine COSM913226 BRDT c.445+1G>A p.? Unknown Endometrium COSM5604088 MGA c.6701A>T p.K2234I Substitution - Missense Skin COSM5711007 EYA1 c.862A>G p.K288E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2006976 KMT2D c.8455delG p.V2819fs*30 Deletion - Frameshift Large_intestine COSM307765 TET2 c.? p.Q1445* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4119369 ACTR8 c.1643A>G p.Q548R Substitution - Missense Stomach COSM4520811 ZMYND11 c.958G>A p.G320R Substitution - Missense Skin COSM988857 CXXC1 c.1754G>A p.R585H Substitution - Missense Endometrium COSM4482455 PHIP c.2609C>T p.P870L Substitution - Missense Skin COSM77210 ACTL6A c.196C>T p.P66S Substitution - Missense Ovary COSM3379546 FMR1 c.569G>A p.R190Q Substitution - Missense Pancreas COSM1751407 NCOA6 c.652G>A p.D218N Substitution - Missense Urinary_tract COSM5998811 EHMT1 c.3148C>T p.R1050C Substitution - Missense Prostate COSM4807079 KMT2D c.2014+7C>G p.? Unknown Pancreas COSM4495125 ZMYM3 c.446C>T p.P149L Substitution - Missense Skin COSM3768140 PHF15 c.272T>C p.V91A Substitution - Missense Liver COSM4106766 PHF6 c.512A>T p.N171I Substitution - Missense Stomach COSM4583282 SP100 c.2025G>C p.L675L Substitution - coding silent Bone COSM4146183 KDM2A c.599G>C p.C200S Substitution - Missense Thyroid COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4749622 TRIM66 c.3583C>T p.R1195* Substitution - Nonsense Stomach COSM269578 MGA c.8282C>T p.T2761M Substitution - Missense Large_intestine COSM4034792 MTA2 c.765G>T p.Q255H Substitution - Missense Stomach COSM5709785 PRDM1 c.497_507del11 p.D167fs*28 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3926681 TAF1L c.4669C>T p.P1557S Substitution - Missense Skin COSM3731429 SMARCC2 c.3128_3129insC p.G1044fs*33 Insertion - Frameshift Large_intestine COSM3395736 SMARCA2 c.2052C>T p.D684D Substitution - coding silent Pancreas COSM3945187 FXR1 c.285A>C p.E95D Substitution - Missense Lung COSM3672990 KDM4B c.2631C>A p.S877S Substitution - coding silent Prostate COSM5487225 TAF1 c.2510A>T p.H837L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1080968 PHF3 c.5118A>C p.K1706N Substitution - Missense Endometrium COSM1670134 SETD2 c.3349A>C p.K1117Q Substitution - Missense Large_intestine COSM1308286 HDAC10 c.546C>G p.L182L Substitution - coding silent Urinary_tract COSM3666446 PHRF1 c.706G>T p.V236F Substitution - Missense Liver COSM1388986 MBD1 c.928C>T p.P310S Substitution - Missense Large_intestine COSM4102325 PRMT2 c.786G>A p.V262V Substitution - coding silent Stomach COSM4455471 JMJD1C c.130A>G p.R44G Substitution - Missense Skin COSM4988295 CARM1 c.988G>T p.A330S Substitution - Missense Soft_tissue COSM288628 TET2 c.1572G>A p.E524E Substitution - coding silent Large_intestine COSM2078739 PHC2 c.1967G>A p.R656H Substitution - Missense Liver COSM677832 TDRD5 c.2482C>T p.Q828* Substitution - Nonsense Lung COSM1301116 MGA c.6782C>G p.S2261* Substitution - Nonsense Urinary_tract COSM1675372 KAT6B c.6018C>A p.Y2006* Substitution - Nonsense Kidney COSM4732915 TDRD6 c.4111C>T p.R1371C Substitution - Missense Skin COSM87012 DNMT3A c.1903C>T p.R635W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3383049 TAF3 c.1189C>T p.R397* Substitution - Nonsense Pancreas COSM1093609 TRRAP c.3717C>T p.H1239H Substitution - coding silent Endometrium COSM3778872 ATAD2 c.1366A>T p.K456* Substitution - Nonsense Urinary_tract COSM311731 HDGFL1 c.250A>G p.N84D Substitution - Missense Lung COSM5728382 GTF3C1 c.3779G>A p.R1260Q Substitution - Missense Skin COSM4765928 TRIM33 c.200_201insG p.A68fs*70 Insertion - Frameshift Stomach COSM256420 BRWD3 c.1385C>A p.S462Y Substitution - Missense Large_intestine COSM1680759 BRD4 c.1352A>G p.E451G Substitution - Missense Large_intestine COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4060711 CREBBP c.3415A>G p.K1139E Substitution - Missense Stomach COSM1246001 BAZ2B c.3386G>A p.G1129E Substitution - Missense Oesophagus COSM691521 TDG c.680C>A p.A227E Substitution - Missense Lung COSM3620816 EYA4 c.1079C>T p.P360L Substitution - Missense Skin COSM1718784 EYA2 c.762G>A p.K254K Substitution - coding silent Skin COSM5736821 MECOM c.2734_2735insA p.T912fs*9 Insertion - Frameshift Small_intestine COSM397115 ORC1 c.144G>C p.Q48H Substitution - Missense Lung COSM5393775 TCF20 c.2092C>T p.P698S Substitution - Missense Skin COSM1604554 PRDM11 c.169G>C p.V57L Substitution - Missense Liver COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5650995 KMT2C c.868C>A p.H290N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5969868 JMJD1C c.3157T>C p.L1053L Substitution - coding silent Upper_aerodigestive_tract COSM4457228 BAHD1 c.1037C>T p.S346F Substitution - Missense Skin COSM985405 CBX8 c.661G>A p.G221S Substitution - Missense Endometrium COSM3799491 PHF20 c.33C>T p.I11I Substitution - coding silent Urinary_tract COSM2802859 CHD3 c.474G>A p.T158T Substitution - coding silent Stomach COSM1067058 PRDM9 c.171C>A p.N57K Substitution - Missense Endometrium COSM3642814 TRRAP c.7795C>T p.L2599L Substitution - coding silent Skin COSM1466708 HCFC1 c.301delC p.R101fs*20 Deletion - Frameshift Large_intestine COSM4771709 ARID2 c.1023+6C>A p.? Unknown Stomach COSM5802856 BAZ1A c.2242A>G p.R748G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4058037 CHD2 c.4352G>A p.S1451N Substitution - Missense Stomach COSM4382866 ACTR8 c.1081C>G p.Q361E Substitution - Missense Large_intestine COSM51475 ARID1A c.4582C>T p.R1528* Substitution - Nonsense Endometrium COSM395423 SFMBT2 c.914A>C p.K305T Substitution - Missense Lung COSM5985482 KDM6A c.2773T>A p.S925T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM948235 TDRD3 c.1210A>T p.K404* Substitution - Nonsense Endometrium COSM5623559 TAF1 c.4729G>A p.A1577T Substitution - Missense Oesophagus COSM4926846 GTF3C1 c.5900A>G p.N1967S Substitution - Missense Liver COSM319394 CDYL c.143T>C p.V48A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1167927 ARID2 c.3493C>T p.Q1165* Substitution - Nonsense Skin COSM253320 TET2 c.? p.V1395fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM1296224 ARID1A c.3598C>T p.Q1200* Substitution - Nonsense Skin COSM5131713 ACTR8 c.1279G>C p.A427P Substitution - Missense Large_intestine COSM1716657 ATRX c.2341C>T p.R781* Substitution - Nonsense Central_nervous_system COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4122629 PRMT10 c.1003T>C p.F335L Substitution - Missense Stomach COSM4620701 SRCAP c.9677G>A p.R3226H Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5907468 ATAD2 c.1091C>T p.S364F Substitution - Missense Skin COSM2007170 KMT2D c.4663G>A p.D1555N Substitution - Missense Breast COSM969952 SRCAP c.8973_8981delCACTGTCAC p.T2995_T2997delTVT Deletion - In frame Endometrium COSM6006362 SMARCA4 c.2935C>T p.R979* Substitution - Nonsense Skin COSM3738079 MBD5 c.2173G>A p.A725T Substitution - Missense Soft_tissue COSM3578971 SP100 c.2429C>T p.T810I Substitution - Missense Skin COSM1733845 CHD8 c.7111_7112insA p.N2371fs*2 Insertion - Frameshift Pancreas COSM230840 PRDM16 c.2434C>T p.R812C Substitution - Missense Skin COSM53209 ASXL1 c.2641_2642insA p.R881fs*13 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4628541 CDYL c.1463T>C p.V488A Substitution - Missense Large_intestine COSM3521210 BPTF c.5425A>T p.T1809S Substitution - Missense Skin COSM437782 BAHCC1 c.4480G>C p.E1494Q Substitution - Missense Breast COSM1180697 PYGO2 c.448delC p.Q150fs*11 Deletion - Frameshift Large_intestine COSM3203683 MECOM c.850G>A p.A284T Substitution - Missense Upper_aerodigestive_tract COSM4764941 ING5 c.482+1G>T p.? Unknown Stomach COSM3740137 CHD6 c.2661G>A p.L887L Substitution - coding silent Liver COSM3592250 ZCWPW2 c.296G>A p.G99E Substitution - Missense Skin COSM3420286 RTF1 c.372G>T p.K124N Substitution - Missense Large_intestine COSM3812002 KDM5A c.2020C>T p.R674W Substitution - Missense Breast COSM3420981 CREBBP c.3832G>A p.E1278K Substitution - Missense Skin COSM1341426 ARID1A c.5542delG p.D1850fs*33 Deletion - Frameshift Stomach COSM53139 TET2 c.? p.Q644* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1563044 UBR7 c.424C>G p.P142A Substitution - Missense Large_intestine COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5972212 HDAC5 c.3365T>C p.L1122P Substitution - Missense Upper_aerodigestive_tract COSM1049759 TET2 c.3685C>A p.L1229I Substitution - Missense Endometrium COSM1666564 BAP1 c.1831_1834delGAGA p.E611fs*5 Deletion - Frameshift Eye COSM221058 KMT2D c.7501C>T p.R2501* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5721302 TAF1L c.4374C>T p.Y1458Y Substitution - coding silent Skin COSM4450099 PRDM2 c.4438delA p.K1481fs*83 Deletion - Frameshift Skin COSM2777758 UHRF2 c.874G>T p.G292* Substitution - Nonsense Large_intestine COSM4694874 KDM2A c.2287C>T p.L763L Substitution - coding silent Large_intestine COSM4010650 MTF2 c.1489C>T p.R497W Substitution - Missense Stomach COSM298010 MYST3 c.3593C>T p.A1198V Substitution - Missense Large_intestine COSM5974048 CHD6 c.5538T>C p.D1846D Substitution - coding silent Upper_aerodigestive_tract COSM4984527 KMT2D c.894C>G p.Y298* Substitution - Nonsense Oesophagus COSM1387346 CHD3 c.197G>A p.R66Q Substitution - Missense Large_intestine COSM4829760 ACTR6 c.122C>A p.T41N Substitution - Missense Cervix COSM3907624 KDM4C c.316G>A p.G106S Substitution - Missense Stomach COSM2095524 TDRD5 c.1677C>A p.F559L Substitution - Missense Large_intestine COSM6001453 YY1 c.745C>T p.P249S Substitution - Missense Prostate COSM1720649 TBL1XR1 c.1250G>A p.S417N Substitution - Missense Skin COSM5511739 KDM3A c.1301C>T p.P434L Substitution - Missense Biliary_tract COSM4159432 BRD8 c.1404C>A p.D468E Substitution - Missense Thyroid COSM1027546 NCOA3 c.3786G>A p.Q1262Q Substitution - coding silent Pancreas COSM1351615 KMT2A c.3799G>A p.V1267I Substitution - Missense Large_intestine COSM1681682 CHD6 c.2709G>T p.K903N Substitution - Missense Large_intestine COSM430195 HCFC2 c.320G>A p.R107H Substitution - Missense Breast COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM562918 CBX4 c.1502C>T p.A501V Substitution - Missense Large_intestine COSM1460902 WDR5 c.450C>T p.D150D Substitution - coding silent Large_intestine COSM722978 KDM3A c.2229G>A p.A743A Substitution - coding silent Lung COSM221012 KMT2D c.15401C>T p.S5134F Substitution - Missense Adrenal_gland COSM3461553 KMT2D c.7876C>T p.P2626S Substitution - Missense Skin COSM1202272 CREBBP c.1238G>A p.R413Q Substitution - Missense Large_intestine COSM3751147 PRDM16 c.2502C>T p.G834G Substitution - coding silent Large_intestine COSM1004 SMARCB1 c.646G>T p.E216* Substitution - Nonsense Soft_tissue COSM4615681 TCF20 c.3631delA p.R1211fs*13 Deletion - Frameshift Large_intestine COSM1302877 HDAC5 c.1402C>T p.Q468* Substitution - Nonsense Urinary_tract COSM3509894 GLYR1 c.846C>T p.I282I Substitution - coding silent Breast COSM1077623 BAG6 c.1886C>T p.A629V Substitution - Missense Endometrium COSM1478866 CREBBP c.5982G>C p.Q1994H Substitution - Missense Breast COSM3435833 PWWP2B c.808C>T p.P270S Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM88024 SMARCA4 c.3695G>A p.G1232D Substitution - Missense Central_nervous_system COSM5552860 CHD4 c.4428G>C p.E1476D Substitution - Missense Prostate COSM2874971 EYA1 c.174C>T p.D58D Substitution - coding silent Large_intestine COSM5939783 CHD7 c.2210C>T p.P737L Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5425730 SMYD3 c.326C>T p.A109V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3374058 EYA4 c.988C>A p.Q330K Substitution - Missense Thyroid COSM945776 MPHOSPH8 c.2402C>T p.P801L Substitution - Missense Endometrium COSM1604307 PRDM10 c.2215-6C>G p.? Unknown Liver COSM5740664 SETD6 c.465G>T p.K155N Substitution - Missense Small_intestine COSM1422139 KAT2B c.1525A>G p.K509E Substitution - Missense Large_intestine COSM5945960 BAP1 c.628_629delAT p.I210fs*32 Deletion - Frameshift Eye COSM1262026 PHC1 c.487C>T p.R163* Substitution - Nonsense Stomach COSM4705945 NCOA2 c.833-1G>T p.? Unknown Large_intestine COSM5096516 MINA c.760G>A p.V254M Substitution - Missense Large_intestine COSM5024941 EP300 c.6284C>G p.S2095C Substitution - Missense Breast COSM5424819 BRD7 c.190A>G p.K64E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5787479 PRDM1 c.417G>A p.A139A Substitution - coding silent Breast COSM5006566 PBRM1 c.?_?del? p.?fs*? Deletion - Frameshift Kidney COSM4943015 PHRF1 c.3676C>G p.H1226D Substitution - Missense Liver COSM4049869 CHD8 c.1004C>T p.A335V Substitution - Missense Stomach COSM4655531 ASH1L c.2749G>A p.E917K Substitution - Missense Large_intestine COSM1266248 SMC1A c.2801A>G p.K934R Substitution - Missense Oesophagus COSM133045 EZH2 c.1697G>A p.R566H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM310075 CHD1 c.3066C>T p.A1022A Substitution - coding silent Soft_tissue COSM1716180 EZH2 c.? p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5891339 SP110 c.1569G>A p.M523I Substitution - Missense Skin COSM21480 HNF1A c.27_33delGACGGAG p.Q9fs*11 Deletion - Frameshift Liver COSM248397 YY1 c.127_129delGAG p.E43delE Deletion - In frame Prostate COSM1636610 ATRX c.3788A>G p.D1263G Substitution - Missense Liver COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Central_nervous_system COSM1738145 EZH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1093663 TRRAP c.7323C>A p.F2441L Substitution - Missense Endometrium COSM3858044 NCOA7 c.1600C>A p.P534T Substitution - Missense Stomach COSM1137042 SETD2 c.6020G>A p.R2007H Substitution - Missense Kidney COSM948229 TDRD3 c.937G>T p.D313Y Substitution - Missense Endometrium COSM5400539 SMARCA5 c.621+2T>C p.? Unknown Skin COSM4130814 BAHCC1 c.4939A>G p.T1647A Substitution - Missense Thyroid COSM5423740 ATRX c.2131C>T p.P711S Substitution - Missense Prostate COSM4016862 HELLS c.1952A>G p.Y651C Substitution - Missense Stomach COSM1318632 TET2 c.822delC p.N275fs*18 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1114797 SMARCA1 c.1497_1498insA p.E500fs*29 Insertion - Frameshift Endometrium COSM263611 SETMAR c.1006C>T p.R336* Substitution - Nonsense Large_intestine COSM3716374 RNF134 c.721T>C p.Y241H Substitution - Missense Prostate COSM3993239 SFMBT1 c.44T>C p.M15T Substitution - Missense Kidney COSM5470954 DOT1L c.4185G>A p.P1395P Substitution - coding silent Large_intestine COSM4844429 BAZ2B c.6238G>T p.E2080* Substitution - Nonsense Cervix COSM5028406 AP001011.3_ENST00000320876 c.5693_5694insG p.C1899fs*26 Insertion - Frameshift Breast COSM5629191 CHD7 c.8273T>C p.L2758P Substitution - Missense Oesophagus COSM4999583 PHF14 c.44C>A p.A15D Substitution - Missense Pancreas COSM4723977 SCML2 c.1288_1289insG p.E430fs*21 Insertion - Frameshift Large_intestine COSM1679364 SMYD4 c.290A>G p.H97R Substitution - Missense Large_intestine COSM1755349 BAZ1B c.1449A>T p.K483N Substitution - Missense Urinary_tract COSM120499 DNMT3A c.2638A>G p.M880V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM939494 ARID2 c.586G>T p.D196Y Substitution - Missense Endometrium COSM2229046 EP400 c.1412C>T p.A471V Substitution - Missense Pancreas COSM3869124 RAG2 c.1506G>A p.M502I Substitution - Missense Skin COSM3781972 L3MBTL3 c.901T>G p.Y301D Substitution - Missense Pancreas COSM53033 EZH2 c.2078A>T p.N693I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM937515 ATF7IP c.3665T>G p.L1222R Substitution - Missense Endometrium COSM709404 MBD1 c.686G>T p.R229L Substitution - Missense Endometrium COSM88749 CREBBP c.4336C>T p.R1446C Substitution - Missense Liver COSM4418732 TDRD3 c.354A>C p.T118T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1754847 TDRD6 c.4098T>G p.D1366E Substitution - Missense Urinary_tract COSM3458278 EP400 c.9178A>G p.T3060A Substitution - Missense Skin COSM51977 BAP1 c.588G>A p.W196* Substitution - Nonsense Pleura COSM1262962 PRDM9 c.475A>C p.S159R Substitution - Missense Oesophagus COSM3854576 PRDM9 c.2370C>A p.N790K Substitution - Missense Stomach COSM3687737 PRDM2 c.3244T>C p.S1082P Substitution - Missense Large_intestine COSM322803 PRDM5 c.1051G>T p.E351* Substitution - Nonsense Lung COSM226619 KMT2C c.857C>A p.A286E Substitution - Missense Skin COSM5753450 BMI1 c.930T>G p.N310K Substitution - Missense Large_intestine COSM5627760 KMT2A c.8743A>G p.I2915V Substitution - Missense Oesophagus COSM2229160 EP400 c.5434C>T p.P1812S Substitution - Missense Stomach COSM5599590 GABRG1 c.490C>T p.P164S Substitution - Missense Skin COSM1066290 NSD1 c.5900T>G p.F1967C Substitution - Missense Endometrium COSM4410377 GATAD2A c.52T>C p.L18L Substitution - coding silent Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM278971 ARID2 c.940C>T p.R314C Substitution - Missense Skin COSM4399765 ARID2 c.1468C>T p.Q490* Substitution - Nonsense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM445044 L3MBTL2 c.175C>T p.R59W Substitution - Missense Breast COSM1235064 EP300 c.4874A>T p.D1625V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5017471 SETD2 c.154delT p.Y52fs*24 Deletion - Frameshift Soft_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM13921 SMARCA4 c.2290T>A p.W764R Substitution - Missense Lung COSM1707261 BAZ1A c.3599G>A p.R1200H Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3463543 BAZ2A_ENST00000379441 c.1270G>A p.A424T Substitution - Missense Skin COSM5398118 MBD4 c.1087G>A p.E363K Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4071907 ASXL3 c.2378C>T p.A793V Substitution - Missense Stomach COSM1339248 LBR c.1095C>G p.V365V Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3714929 CLOCK c.1408C>T p.H470Y Substitution - Missense Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1308201 EP300 c.40A>C p.K14Q Substitution - Missense Urinary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM43351 MEN1 c.207_207delC p.D70fs*49 Deletion - Frameshift Parathyroid COSM12965 TAF1L c.129C>T p.G43G Substitution - coding silent Lung COSM94710 KMT2A c.9126G>T p.Q3042H Substitution - Missense Lung COSM395317 L3MBTL3 c.1855G>T p.A619S Substitution - Missense Lung COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1550013 ACTB c.63C>T p.F21F Substitution - coding silent Skin COSM4702426 KMT2D c.11708C>T p.P3903L Substitution - Missense Large_intestine COSM4640056 GLYR1 c.518G>A p.R173Q Substitution - Missense Large_intestine COSM4629655 EPC1 c.1382G>A p.R461H Substitution - Missense Large_intestine COSM254824 KMT2C c.12221G>T p.G4074V Substitution - Missense Urinary_tract COSM1324092 PHF12 c.2525G>A p.C842Y Substitution - Missense Ovary COSM4146787 SETD8 c.995T>C p.L332P Substitution - Missense Thyroid COSM216735 SHPRH c.2394G>A p.Q798Q Substitution - coding silent Pancreas COSM750336 MYST3 c.1190A>G p.N397S Substitution - Missense Lung COSM1087517 KMT2C c.13750C>T p.R4584W Substitution - Missense Endometrium COSM5748877 BAZ2B c.1291C>T p.R431W Substitution - Missense Pancreas COSM4395485 HELLS c.2163C>T p.R721R Substitution - coding silent Skin COSM4682137 EYA4 c.211G>A p.E71K Substitution - Missense Large_intestine COSM5732173 TRIM33 c.1109T>C p.I370T Substitution - Missense Pancreas COSM3767634 INTS12 c.1197C>T p.S399S Substitution - coding silent Liver COSM1333113 TTF2 c.1593C>T p.H531H Substitution - coding silent Oesophagus COSM42070 TET2 c.5650A>G p.T1884A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5748877 BAZ2B c.1291C>T p.R431W Substitution - Missense Pancreas COSM5788618 EHMT1 c.3172C>G p.R1058G Substitution - Missense Breast COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM29495 SMARCB1 c.1145delC p.P383fs*4 Deletion - Frameshift Central_nervous_system COSM48574 MSH6 c.773T>C p.I258T Substitution - Missense Lung COSM81019 CHD7 c.4374A>G p.K1458K Substitution - coding silent Ovary COSM85801 DAXX c.1976_1976delA p.N659fs*36 Deletion - Frameshift Pancreas COSM77922 JMJD1C c.5052G>A p.M1684I Substitution - Missense Ovary COSM79200 HDAC11 c.716A>T p.E239V Substitution - Missense Ovary COSM100073 TET2 c.840_841insT p.N281fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM87124 TET2 c.3632G>A p.C1211Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM115939 PHF20 c.2447T>A p.V816E Substitution - Missense Ovary COSM128238 INO80B c.360A>G p.P120P Substitution - coding silent Upper_aerodigestive_tract COSM133729 DNMT3A c.327_328insG p.Q110fs*14 Insertion - Frameshift Large_intestine COSM140911 PRDM16 c.313G>A p.E105K Substitution - Missense Upper_aerodigestive_tract COSM162685 MUM1 c.76G>A p.A26T Substitution - Missense Breast COSM212243 CREBBP c.3334C>T p.R1112W Substitution - Missense Breast COSM216002 ARID1B c.5914C>T p.R1972* Substitution - Nonsense Central_nervous_system COSM216214 TAF1 c.3203G>A p.R1068H Substitution - Missense Central_nervous_system COSM245108 JMJD5 c.869G>A p.S290N Substitution - Missense Prostate COSM243665 CHD1 c.4627A>G p.S1543G Substitution - Missense Prostate COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Prostate COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Endometrium COSM255320 ZMYM3 c.3332delT p.L1111fs*9 Deletion - Frameshift Central_nervous_system COSM263650 SHPRH c.1288G>A p.E430K Substitution - Missense Oesophagus COSM297202 PRDM2 c.4459delA p.V1490fs*74 Deletion - Frameshift Large_intestine COSM315433 SMARCA2 c.3201C>A p.H1067Q Substitution - Missense Soft_tissue COSM303843 TBL1XR1 c.381_382insA p.E128fs*17 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM377396 SIRT1 c.1646C>G p.S549C Substitution - Missense Lung COSM445984 TBL1XR1 c.959_961delACA p.N320delN Deletion - In frame Breast COSM5232991 KMT2D c.9148G>A p.A3050T Substitution - Missense Lung COSM465837 JMJD1C c.6569A>T p.Q2190L Substitution - Missense Kidney COSM468845 YEATS4 c.398C>G p.T133R Substitution - Missense Kidney COSM985476 CHD3 c.3083G>A p.C1028Y Substitution - Missense Endometrium COSM987397 SMCHD1 c.632C>T p.S211L Substitution - Missense Endometrium COSM987412 SMCHD1 c.1138G>T p.V380L Substitution - Missense Endometrium COSM482000 KDM3B c.350G>T p.W117L Substitution - Missense Kidney COSM488626 ATRX c.5707G>A p.D1903N Substitution - Missense Kidney COSM587441 GABRG1 c.184G>T p.G62* Substitution - Nonsense Liver COSM937165 EP400 c.5280G>A p.E1760E Substitution - coding silent Endometrium COSM1027513 ZMYND8 c.3197G>A p.S1066N Substitution - Missense Endometrium COSM907755 ARID1A c.6507_6508insCTG p.L2171_A2172insL Insertion - In frame Endometrium COSM947878 SETDB2 c.1704T>A p.T568T Substitution - coding silent Endometrium COSM1007233 MBD5 c.2903C>T p.S968L Substitution - Missense Endometrium COSM1071748 PRDM1 c.1611C>A p.I537I Substitution - coding silent Endometrium COSM1073489 EYA4 c.1484A>G p.Y495C Substitution - Missense Endometrium COSM1108231 TAF1L c.3191G>T p.S1064I Substitution - Missense Endometrium COSM1123280 PHF8 c.428C>T p.T143I Substitution - Missense Endometrium COSM1084549 ING3 c.728G>A p.R243Q Substitution - Missense Endometrium COSM1085173 SND1 c.13G>A p.A5T Substitution - Missense Endometrium COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1184390 KMT2C c.8650C>T p.R2884* Substitution - Nonsense Breast COSM1180098 KMT2C c.1005T>A p.P335P Substitution - coding silent Prostate COSM1378949 CTCF c.872A>G p.E291G Substitution - Missense Pancreas COSM1450168 CBX3 c.26delA p.M11fs*26 Deletion - Frameshift Large_intestine COSM1440683 SIRT5 c.657C>T p.H219H Substitution - coding silent Urinary_tract COSM1342112 ZMYM1 c.1510delA p.T506fs*15 Deletion - Frameshift Breast COSM1512174 ARID2 c.820C>T p.R274* Substitution - Nonsense Skin COSM1563629 JMJD6 c.444_445insA p.D149fs*10 Insertion - Frameshift Large_intestine COSM1610665 BPTF c.5848A>G p.M1950V Substitution - Missense Liver COSM1579636 KAT6B c.4203_4204delCT p.S1402fs*5 Deletion - Frameshift Central_nervous_system COSM1642872 EYA4 c.961A>G p.N321D Substitution - Missense Stomach COSM1685633 KMT2C c.1795_1796delGA p.D599fs*1 Deletion - Frameshift Skin COSM2156557 SMARCA2 c.667_669delCAG p.Q238delQ Deletion - In frame Upper_aerodigestive_tract COSM2738952 NCOR1 c.5910C>T p.S1970S Substitution - coding silent Large_intestine COSM2859837 TRIM24 c.1152C>T p.Y384Y Substitution - coding silent Large_intestine COSM3392677 PRDM5 c.464C>T p.A155V Substitution - Missense Pancreas COSM3368637 PRDM4 c.2387C>A p.S796Y Substitution - Missense Thyroid COSM3396081 BAZ2A c.4687C>T p.R1563W Substitution - Missense Prostate COSM3508991 SETD1A c.4458C>T p.P1486P Substitution - coding silent Skin COSM3501101 MGA c.3472C>T p.P1158S Substitution - Missense Skin COSM3457186 KDM2B c.619C>T p.P207S Substitution - Missense Skin COSM3450130 GLYATL1 c.41G>A p.G14E Substitution - Missense Skin COSM3545564 NCOA6 c.1816C>T p.L606F Substitution - Missense Skin COSM3515949 SUZ12 c.868G>A p.D290N Substitution - Missense Skin COSM3657692 KIAA2026_ENST00000399933 c.5207T>C p.L1736S Substitution - Missense Skin COSM3664723 ZMYM6 c.168G>C p.E56D Substitution - Missense Breast COSM3697555 SHPRH c.3795-1G>C p.? Unknown Large_intestine COSM3700817 MTF2 c.1624G>T p.E542* Substitution - Nonsense Liver COSM3711992 GTF3C1 c.48C>T p.L16L Substitution - coding silent Upper_aerodigestive_tract COSM3710972 CHD4 c.2395C>G p.P799A Substitution - Missense Upper_aerodigestive_tract COSM3725955 YEATS4 c.234A>G p.L78L Substitution - coding silent Lung COSM3765033 ZMYM3 c.3611C>T p.S1204L Substitution - Missense Central_nervous_system COSM3772459 L3MBTL4 c.746G>T p.W249L Substitution - Missense Pancreas COSM3780052 KDM4C c.3147G>A p.Q1049Q Substitution - coding silent Urinary_tract COSM3780477 KDM6A c.3868G>A p.E1290K Substitution - Missense Pancreas COSM3871120 EP400 c.1950C>T p.L650L Substitution - coding silent Skin COSM3915042 ZBTB38 c.751G>A p.E251K Substitution - Missense Skin COSM3896554 ATAD2 c.2546C>G p.A849G Substitution - Missense Stomach COSM3996920 TDRKH c.1332T>C p.H444H Substitution - coding silent Breast COSM4139311 ZCWPW1 c.1404G>T p.E468D Substitution - Missense Pancreas COSM4384960 PHF12 c.2686C>T p.R896C Substitution - Missense Oesophagus COSM4385039 DNMT1 c.4444G>A p.G1482S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4381931 KMT2C c.943G>T p.G315C Substitution - Missense Large_intestine COSM4383957 TET2 c.4794T>A p.Y1598* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4384704 KMT2D c.13336G>A p.G4446R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384862 IDH2 c.475C>G p.R159G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4603241 KDM6B c.761_762insACCACC p.P264_L265insPP Insertion - In frame Upper_aerodigestive_tract COSM4416368 SETD5_ENST00000402198 c.128A>G p.H43R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4415207 BAZ2A c.52A>G p.R18G Substitution - Missense Large_intestine COSM4444149 ATAD2 c.834A>T p.E278D Substitution - Missense Pancreas COSM4588732 SMARCA2 c.1884A>G p.E628E Substitution - coding silent Bone COSM4590278 KDM2A c.310A>G p.S104G Substitution - Missense Upper_aerodigestive_tract COSM4467114 CBX4 c.1470C>T p.S490S Substitution - coding silent Skin COSM4448110 BAHCC1 c.3833C>T p.P1278L Substitution - Missense Skin COSM4692491 ING1 c.414G>A p.A138A Substitution - coding silent Large_intestine COSM4672029 CHD4 c.863C>A p.P288H Substitution - Missense Large_intestine COSM4660720 AKAP1 c.2404G>A p.V802M Substitution - Missense Large_intestine COSM4765107 ARID1A c.5542_5543insG p.D1850fs*4 Insertion - Frameshift Breast COSM4802394 CHD3 c.2364C>T p.F788F Substitution - coding silent Liver COSM4800813 JMJD1C c.6641T>C p.I2214T Substitution - Missense Adrenal_gland COSM4803255 ACTR8 c.1022T>G p.L341R Substitution - Missense Liver COSM4898306 CBX7 c.605C>A p.A202D Substitution - Missense Skin COSM4922879 BPTF c.2205T>G p.A735A Substitution - coding silent Liver COSM4842485 SHPRH c.1667C>T p.S556F Substitution - Missense Cervix COSM4874494 CHD4 c.3743A>C p.H1248P Substitution - Missense Endometrium COSM4830676 CREBBP c.674C>T p.P225L Substitution - Missense Cervix COSM4951287 TAF3 c.613C>A p.L205I Substitution - Missense Liver COSM4988134 PRDM9 c.904T>C p.Y302H Substitution - Missense Soft_tissue COSM5006254 SP110 c.1647C>T p.C549C Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5021886 SRCAP c.2655C>A p.G885G Substitution - coding silent Bone COSM5019221 TRIM33 c.1303-10delT p.? Unknown Soft_tissue COSM5174718 TDG c.637C>T p.R213C Substitution - Missense Large_intestine COSM5343594 CHD6 c.430G>A p.E144K Substitution - Missense Large_intestine COSM5341549 POGZ c.4097C>G p.S1366C Substitution - Missense Large_intestine COSM5356561 NIPBL c.5628T>C p.C1876C Substitution - coding silent Large_intestine COSM5464961 PCNA c.616A>G p.T206A Substitution - Missense Large_intestine COSM5612796 MSH6 c.862G>T p.E288* Substitution - Nonsense Adrenal_gland COSM5723996 BRD3 c.640C>T p.P214S Substitution - Missense Skin COSM5722305 TP53BP1 c.1809T>C p.G603G Substitution - coding silent Skin COSM5722438 SETD1A c.895C>T p.R299W Substitution - Missense Skin COSM5591048 FXR1 c.1187C>T p.T396I Substitution - Missense Skin COSM5599399 DMAP1 c.379G>A p.A127T Substitution - Missense Skin COSM5589133 TDRD1 c.2278G>A p.G760S Substitution - Missense Skin COSM5606450 CREBBP c.3862C>T p.R1288W Substitution - Missense Skin COSM5752430 ARID1A c.5350_5363del14 p.N1784fs*13 Deletion - Frameshift Breast COSM5710938 ELP3 c.119A>G p.K40R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5563754 DOT1L c.1386G>A p.Q462Q Substitution - coding silent Prostate COSM5776296 SMCHD1 c.707A>G p.Y236C Substitution - Missense Breast COSM5776068 GTF3C4 c.2029G>T p.E677* Substitution - Nonsense Breast COSM5781629 BPTF c.6488A>G p.Q2163R Substitution - Missense Breast COSM5793952 EYA1 c.82T>A p.S28T Substitution - Missense Breast COSM5814550 KAT2B c.2382A>G p.R794R Substitution - coding silent Liver COSM5945033 TET2 c.2846A>G p.H949R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5990028 TET2 c.3310_3311insTATA p.F1104fs*27 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5999139 KAT6B c.6200A>G p.N2067S Substitution - Missense Prostate COSM6000633 KDM5A c.2116C>A p.L706M Substitution - Missense Prostate COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM1685360 SETBP1 c.? p.G872R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM242455 ATRX c.? p.Y2083C Substitution - Missense Central_nervous_system COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43117 TET2 c.1_6009del6009 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM5985634 ASXL1 c.? p.E1227* Substitution - Nonsense Salivary_gland COSM144548 DNMT3A c.? p.G543C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3907605 UHRF2 c.1422T>C p.H474H Substitution - coding silent Stomach COSM5732323 ATRX c.5807delA p.K1936fs*19 Deletion - Frameshift Pancreas COSM86082 KMT2C c.2418C>G p.S806S Substitution - coding silent Soft_tissue COSM4147812 YY1 c.755C>T p.S252L Substitution - Missense Thyroid COSM5879071 EZH2 c.2228_2229insGCCCCGG p.I744fs*>11 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4977687 MSH6 c.3041A>G p.K1014R Substitution - Missense Oesophagus COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM5019205 PBRM1 c.996-4delG p.? Unknown Soft_tissue COSM478999 EP300 c.6022T>C p.S2008P Substitution - Missense Kidney COSM5817179 TAF1L c.3527A>C p.K1176T Substitution - Missense Liver COSM919460 JMJD1C c.5495T>C p.L1832S Substitution - Missense Endometrium COSM253005 HNF1A c.1131delC p.P379fs*5 Deletion - Frameshift Large_intestine COSM1439362 PRDM13 c.1782G>A p.T594T Substitution - coding silent Large_intestine COSM1715209 BRWD3 c.766_767CC>TT p.P256F Substitution - Missense Skin COSM5968398 PHF13 c.408G>T p.R136S Substitution - Missense Genital_tract COSM4655454 KIAA2026_ENST00000399933 c.82G>A p.D28N Substitution - Missense Large_intestine COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Central_nervous_system COSM1684723 SETBP1 c.? p.I871S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3445294 PRDM10 c.2409C>T p.L803L Substitution - coding silent Skin COSM5945046 TET2 c.3785G>A p.R1262Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM335290 PRDM12 c.346C>A p.P116T Substitution - Missense Lung COSM1076385 KDM1B c.1376G>A p.R459Q Substitution - Missense Endometrium COSM4410659 MYST2 c.326A>G p.D109G Substitution - Missense Kidney COSM3294913 ZMYND8 c.1709G>A p.R570H Substitution - Missense Large_intestine COSM4050621 BAZ1A c.3446C>T p.A1149V Substitution - Missense Stomach COSM3371073 MBD1 c.382C>T p.P128S Substitution - Missense Thyroid COSM5039081 CHD4 c.1646G>T p.G549V Substitution - Missense Liver COSM6004136 BRD4 c.1345G>A p.V449M Substitution - Missense Prostate COSM4992292 NSD1 c.1192C>T p.L398F Substitution - Missense Skin COSM3986927 ARID2 c.5062-1G>A p.? Unknown Kidney COSM4758040 BRWD3 c.4899A>C p.Q1633H Substitution - Missense Stomach COSM3190633 HDAC5 c.928G>A p.V310M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4426864 KMT2D c.6125C>G p.S2042* Substitution - Nonsense Cervix COSM3733523 NCOR1 c.14G>T p.G5V Substitution - Missense Upper_aerodigestive_tract COSM225158 MBD5 c.1625C>T p.P542L Substitution - Missense Skin COSM693724 KMT2D c.15519C>A p.Y5173* Substitution - Nonsense Lung COSM1754443 HDAC2 c.588G>A p.T196T Substitution - coding silent Urinary_tract COSM4496801 TCF20 c.482C>T p.S161F Substitution - Missense Skin COSM4758868 CHD2 c.1478A>T p.N493I Substitution - Missense Stomach COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Skin COSM5810192 ACTA1 c.928G>T p.G310W Substitution - Missense Liver COSM254545 ARID1A c.3590C>G p.S1197C Substitution - Missense Urinary_tract COSM2041354 KDM2A c.1244C>T p.P415L Substitution - Missense Large_intestine COSM5427867 HDAC4 c.734-7T>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4061542 SETD6 c.746A>G p.Q249R Substitution - Missense Stomach COSM3857070 PRDM13 c.14C>G p.A5G Substitution - Missense Stomach COSM4960407 HDAC4 c.2190G>A p.R730R Substitution - coding silent Liver COSM213567 SUV420H1 c.1234A>T p.R412W Substitution - Missense Breast COSM981681 AKAP1 c.987G>T p.E329D Substitution - Missense Endometrium COSM1583086 DNMT3A c.1687G>A p.V563M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM51462 ARID1A c.1776_1776delT p.S593fs*26 Deletion - Frameshift Ovary COSM1005 SMARCB1 c.553_579del27 p.V185_M193del Deletion - In frame Central_nervous_system COSM5716863 ORC1 c.396T>G p.L132L Substitution - coding silent Skin COSM3986528 EED c.114T>A p.N38K Substitution - Missense Kidney COSM3837454 ATF2 c.1306G>A p.D436N Substitution - Missense Breast COSM3966548 ZMYM6 c.1A>G p.M1V Substitution - Missense Central_nervous_system COSM318954 BTAF1 c.4711-1G>A p.? Unknown Lung COSM87001 DNMT3A c.2644C>A p.R882S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4044305 CHD4 c.4288C>T p.R1430* Substitution - Nonsense Stomach COSM5967247 ASXL1 c.? p.T822fs*11 Frameshift Haematopoietic_and_lymphoid_tissue COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Kidney COSM6006121 SETD3 c.296T>C p.V99A Substitution - Missense Small_intestine COSM468038 EP400 c.8229G>A p.Q2743Q Substitution - coding silent Oesophagus COSM1672543 PHF3 c.5179A>C p.N1727H Substitution - Missense Large_intestine COSM1562940 MGA c.6500A>T p.K2167I Substitution - Missense Large_intestine COSM1019165 NCOA1 c.2797C>A p.L933I Substitution - Missense Endometrium COSM4770792 BAP1 c.255G>T p.Q85H Substitution - Missense Pleura COSM4478764 SETBP1 c.2263C>T p.Q755* Substitution - Nonsense Skin COSM1703079 TDRD1 c.3522G>A p.M1174I Substitution - Missense Skin COSM914725 SMNDC1 c.24G>A p.Q8Q Substitution - coding silent Endometrium COSM1096262 PHF20L1 c.751C>T p.R251* Substitution - Nonsense Endometrium COSM4831618 EPC1 c.1960G>A p.A654T Substitution - Missense Cervix COSM4162024 KMT2C c.946A>T p.T316S Substitution - Missense Upper_aerodigestive_tract COSM167143 RNF2 c.77G>A p.R26Q Substitution - Missense Large_intestine COSM1468559 SMC1A c.562C>T p.R188C Substitution - Missense Large_intestine COSM746382 STK31 c.1180A>C p.I394L Substitution - Missense Lung COSM938866 PRMT8 c.38G>T p.R13M Substitution - Missense Endometrium COSM4532770 PRDM9 c.1917G>A p.R639R Substitution - coding silent Skin COSM1753989 BRD8 c.671C>T p.S224F Substitution - Missense Upper_aerodigestive_tract COSM476084 BAZ2B c.875A>G p.E292G Substitution - Missense Kidney COSM5417825 PHRF1 c.4555C>T p.P1519S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM331509 PHF3 c.3954C>T p.A1318A Substitution - coding silent Lung COSM3750243 TRIM33 c.1146A>G p.Q382Q Substitution - coding silent Soft_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4485177 TCF20 c.2900C>T p.P967L Substitution - Missense Skin COSM4603746 PBRM1 c.1658delA p.K553fs*16 Deletion - Frameshift Kidney COSM2768784 SND1 c.2163delC p.P723fs*2 Deletion - Frameshift Large_intestine COSM4666124 BRD8 c.2910C>T p.G970G Substitution - coding silent Large_intestine COSM4512143 KDM4D c.892C>T p.P298S Substitution - Missense Skin COSM5434621 SETDB1 c.136G>C p.E46Q Substitution - Missense Oesophagus COSM3662297 PHF10 c.760G>T p.G254* Substitution - Nonsense Liver COSM1626159 BRWD3 c.814-4delT p.? Unknown Oesophagus COSM1418748 RUVBL1 c.743C>T p.A248V Substitution - Missense Large_intestine COSM4385261 EP300 c.4600A>G p.S1534G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3788465 TRIM33 c.3121A>G p.M1041V Substitution - Missense Urinary_tract COSM2019079 RSF1 c.806A>G p.N269S Substitution - Missense Central_nervous_system COSM1333457 PRDM2 c.3993C>T p.T1331T Substitution - coding silent Large_intestine COSM3523582 BAHCC1 c.1450C>T p.P484S Substitution - Missense Skin COSM5772551 ATAD2B_ENST00000238789 c.2599T>C p.L867L Substitution - coding silent Breast COSM5364056 CBX4 c.853G>T p.A285S Substitution - Missense Large_intestine COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5420146 KMT2D c.15709G>T p.E5237* Substitution - Nonsense Pancreas COSM4914962 ATAD2 c.30G>A p.L10L Substitution - coding silent Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1441795 JARID2 c.1770delC p.P592fs*57 Deletion - Frameshift Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4202271 HCFC2 c.348T>C p.H116H Substitution - coding silent Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3986981 KMT2D c.1391C>T p.A464V Substitution - Missense Kidney COSM23153 MEN1 c.? p.Q166* Substitution - Nonsense Gastrointestinal_tract_(site_indeterminate) COSM1085177 SND1 c.522G>A p.R174R Substitution - coding silent Endometrium COSM427939 KAT6B c.2185G>A p.E729K Substitution - Missense Breast COSM5653725 MYST2 c.1253G>A p.C418Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4172021 SETBP1 c.? p.G872S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5504259 RAI1 c.1448C>A p.P483H Substitution - Missense Biliary_tract COSM43435 TET2 c.4468G>T p.E1490* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5474768 KDM3B c.1251A>G p.I417M Substitution - Missense Large_intestine COSM52793 PBRM1 c.1373delA p.N458fs*17 Deletion - Frameshift Kidney COSM3741433 MTF2 c.1450C>T p.R484C Substitution - Missense Liver COSM936038 KDM2B c.1810C>A p.L604M Substitution - Missense Endometrium COSM234539 CHD1 c.3942T>C p.S1314S Substitution - coding silent Skin COSM5004912 CHD8 c.1320G>A p.S440S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1615687 ZMYND8 c.3306G>T p.E1102D Substitution - Missense Liver COSM5749766 PWWP2B c.799G>T p.V267F Substitution - Missense Genital_tract COSM219047 TET2 c.? p.Q1532fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM140788 RAI1 c.962A>G p.Y321C Substitution - Missense Skin COSM4591210 PRDM14 c.187G>C p.A63P Substitution - Missense Upper_aerodigestive_tract COSM724359 ZMYND8 c.1437C>A p.F479L Substitution - Missense Lung COSM5605399 ZMYM6 c.1227C>T p.L409L Substitution - coding silent Skin COSM52826 PBRM1 c.3461_3464delATGA p.N1154fs*4 Deletion - Frameshift Kidney COSM5740454 IDH2 c.761T>C p.I254T Substitution - Missense Small_intestine COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1091559 BAZ1B c.3167G>A p.R1056H Substitution - Missense Endometrium COSM1122204 HDAC6 c.2829C>T p.V943V Substitution - coding silent Endometrium COSM3551341 AIRE c.1120G>A p.G374R Substitution - Missense Skin COSM4470805 MECOM c.1119C>T p.P373P Substitution - coding silent Skin COSM5761148 KMT2C c.2198delC p.S733fs*4 Deletion - Frameshift Pancreas COSM4822101 SMARCA4 c.2332G>C p.A778P Substitution - Missense Cervix COSM3704973 POGZ c.283+8G>A p.? Unknown Liver COSM87169 TET2 c.4249G>T p.V1417F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5810080 ATF7IP c.1960G>T p.E654* Substitution - Nonsense Liver COSM126965 TET2 c.1763C>A p.S588* Substitution - Nonsense Upper_aerodigestive_tract COSM87082 TET2 c.1118_1122delAAAAT p.Q373fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4014446 ERCC6 c.2421C>T p.N807N Substitution - coding silent Stomach COSM4665034 BAG6 c.1287G>A p.P429P Substitution - coding silent Large_intestine COSM1566545 FXR1 c.885A>G p.K295K Substitution - coding silent Large_intestine COSM4996254 SMYD5 c.319C>T p.L107F Substitution - Missense Upper_aerodigestive_tract COSM3723186 PRDM2 c.2634A>G p.V878V Substitution - coding silent Upper_aerodigestive_tract COSM3642834 TRRAP c.9860C>T p.S3287F Substitution - Missense Skin COSM4644554 ATXN7 c.2525G>T p.S842I Substitution - Missense Large_intestine COSM1025736 ASXL1 c.3818G>A p.R1273H Substitution - Missense Endometrium COSM3615208 PRDM9 c.1275C>T p.L425L Substitution - coding silent Skin COSM4422839 ASXL1 c.1803delG p.E602fs*101 Deletion - Frameshift Kidney COSM3716551 ATRX c.2580G>A p.M860I Substitution - Missense Prostate COSM3976617 TDRD5 c.123C>A p.N41K Substitution - Missense Lung COSM4407839 TAF1L c.3763C>T p.R1255W Substitution - Missense Pancreas COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM97940 SETBP1 c.2843G>A p.R948H Substitution - Missense Upper_aerodigestive_tract COSM1470013 KDM5D c.4255C>T p.R1419C Substitution - Missense Skin COSM5945526 ATRX c.7219C>T p.R2407* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1228041 SUV39H2 c.445C>A p.L149I Substitution - Missense Large_intestine COSM485095 KMT2C c.3309T>A p.C1103* Substitution - Nonsense Central_nervous_system COSM273289 SP110 c.1611C>T p.C537C Substitution - coding silent Endometrium COSM5575869 WHSC1 c.3320A>G p.K1107R Substitution - Missense Stomach COSM985440 CHD3 c.1835C>T p.P612L Substitution - Missense Endometrium COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2835099 FTO c.274A>T p.T92S Substitution - Missense Large_intestine COSM254905 PRDM10 c.427G>A p.D143N Substitution - Missense Urinary_tract COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5790929 SETD2 c.177T>C p.P59P Substitution - coding silent Breast COSM485095 KMT2C c.3309T>A p.C1103* Substitution - Nonsense Kidney COSM5187040 APOBEC1 c.208T>A p.F70I Substitution - Missense Large_intestine COSM5492954 KMT2D c.5984delG p.G1995fs*21 Deletion - Frameshift Biliary_tract COSM1301478 MORF4L1 c.580G>A p.E194K Substitution - Missense Urinary_tract COSM5937448 SFMBT2 c.781C>T p.P261S Substitution - Missense Skin COSM4663285 ARID4A c.1092A>G p.V364V Substitution - coding silent Large_intestine COSM3680090 RAI1 c.5660-8G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1173128 PRDM9 c.151T>C p.Y51H Substitution - Missense Oesophagus COSM1636964 SETBP1 c.744C>G p.T248T Substitution - coding silent Bone COSM4508252 TRIM24 c.769C>T p.Q257* Substitution - Nonsense Skin COSM5358326 BAZ1B c.3795G>A p.E1265E Substitution - coding silent Large_intestine COSM4613862 MBD6 c.424delC p.S144fs*35 Deletion - Frameshift Large_intestine COSM1936461 BAZ2A c.4938T>C p.H1646H Substitution - coding silent Large_intestine COSM3925550 EYA1 c.739C>A p.P247T Substitution - Missense Skin COSM1752297 IDH1 c.960G>C p.Q320H Substitution - Missense Urinary_tract COSM3124682 ZBTB38 c.3036C>T p.C1012C Substitution - coding silent Large_intestine COSM3923414 STK31 c.2916C>T p.F972F Substitution - coding silent Skin COSM85846 MEN1 c.79_95del17 p.L27fs*84 Deletion - Frameshift Pancreas COSM4778198 KAT6B c.4672A>C p.T1558P Substitution - Missense Prostate COSM3458546 ATF7IP c.2453C>T p.S818F Substitution - Missense Skin COSM1027975 ADNP c.916C>T p.R306* Substitution - Nonsense Large_intestine COSM4779868 GABRG1 c.1300A>T p.I434L Substitution - Missense Liver COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM5690818 TDRD6 c.1016G>C p.R339P Substitution - Missense Soft_tissue COSM5367824 ACTR6 c.260_261insT p.L89fs*4 Insertion - Frameshift Large_intestine COSM1716180 EZH2 c.? p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5609103 IDH1 c.939C>T p.T313T Substitution - coding silent Skin COSM1462000 TAF1L c.4066C>T p.R1356C Substitution - Missense Large_intestine COSM4383780 TET2 c.1070delG p.S357fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5045484 TRIM33 c.2738G>T p.C913F Substitution - Missense Oesophagus COSM132975 ASXL1 c.? p.L775* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5198875 KDM5A c.2274_2275insA p.D759fs*4 Insertion - Frameshift Upper_aerodigestive_tract COSM4405646 KMT2C c.1130C>T p.P377L Substitution - Missense Skin COSM1606135 ARID2 c.1231G>T p.D411Y Substitution - Missense Liver COSM5767157 TIF1 c.102G>C p.E34D Substitution - Missense Breast COSM5652100 DHX30 c.2154G>A p.Q718Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4728283 SMARCA2 c.4480G>A p.V1494I Substitution - Missense Large_intestine COSM3583870 SMYD1 c.939G>A p.L313L Substitution - coding silent Skin COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Upper_aerodigestive_tract COSM3656832 TAF1L c.4906G>A p.D1636N Substitution - Missense Skin COSM4995507 BAZ1A c.3856G>T p.G1286C Substitution - Missense Upper_aerodigestive_tract COSM5573647 DOT1L c.5198C>T p.S1733L Substitution - Missense Prostate COSM329173 BAZ2A c.1085A>G p.E362G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5514338 ASXL3 c.1215A>G p.L405L Substitution - coding silent Biliary_tract COSM5879027 TET2 c.3896A>C p.K1299T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52947 IDH2 c.? p.R172? Substitution - Missense Bone COSM4787512 DIDO1 c.2006A>G p.Q669R Substitution - Missense Liver COSM3667314 TRIM33 c.3047A>T p.Q1016L Substitution - Missense Liver COSM86914 SP140_ENST00000392045 c.2217G>C p.P739P Substitution - coding silent Ovary COSM3589836 MECOM c.2770G>A p.G924R Substitution - Missense Skin COSM4059621 JMJD5 c.1230G>T p.S410S Substitution - coding silent Stomach COSM948226 TDRD3 c.161C>T p.T54I Substitution - Missense Endometrium COSM214588 TET2 c.817C>T p.Q273* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM219069 TET2 c.? p.A1505V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM225885 KMT2C c.1139G>T p.R380L Substitution - Missense Soft_tissue COSM3790059 KDM4A c.1651G>C p.D551H Substitution - Missense Urinary_tract COSM4771407 PBRM1 c.3675_3675delC p.M1226fs*1 Deletion - Frameshift Kidney COSM5945590 PHF6 c.585+5G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5721981 BAZ2A c.803C>T p.T268I Substitution - Missense Skin COSM3567473 EPC2 c.1391G>A p.R464Q Substitution - Missense Skin COSM4061197 CHD9 c.2818G>T p.G940W Substitution - Missense Stomach COSM3711329 PRDM16 c.3102C>A p.N1034K Substitution - Missense Upper_aerodigestive_tract COSM3508912 SRCAP c.6019C>T p.Q2007* Substitution - Nonsense Skin COSM1495804 WHSC1 c.62T>A p.M21K Substitution - Missense Kidney COSM4061191 CHD9 c.911A>C p.D304A Substitution - Missense Stomach COSM3550989 PRDM15 c.4083G>A p.S1361S Substitution - coding silent Skin COSM4096166 SMYD1 c.1386C>A p.R462R Substitution - coding silent Stomach COSM896939 ASH1L c.2264C>A p.S755Y Substitution - Missense Endometrium COSM1639546 HDGF c.236G>C p.R79T Substitution - Missense Stomach COSM4973862 BRDT c.1233T>A p.S411S Substitution - coding silent Oesophagus COSM5645042 PRDM1 c.2183G>C p.R728T Substitution - Missense Oesophagus COSM1756397 PHF6 c.956G>T p.R319L Substitution - Missense Urinary_tract COSM1628613 ARID2 c.5147+3A>C p.? Unknown Liver COSM5928507 PBRM1 c.4042C>T p.P1348S Substitution - Missense Skin COSM3756522 GATAD2A c.267G>A p.S89S Substitution - coding silent Thyroid COSM4137255 PRDM15 c.2093T>G p.V698G Substitution - Missense Ovary COSM5947985 KMT2D c.8745delT p.F2915fs*12 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5487677 EP300 c.3491G>A p.C1164Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1619518 BRD8 c.2221G>A p.A741T Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4706992 NIPBL c.6678A>G p.S2226S Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM945795 ZMYM5 c.784G>T p.G262* Substitution - Nonsense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM136470 PRDM9 c.850G>A p.E284K Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1602132 ARID1A c.309_321del13 p.N104fs*6 Deletion - Frameshift Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM278971 ARID2 c.940C>T p.R314C Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1692825 PBRM1 c.4310C>T p.A1437V Substitution - Missense Skin COSM52863 PBRM1 c.835delA p.I279fs*4 Deletion - Frameshift Kidney COSM5409621 MYST3 c.2741C>T p.T914I Substitution - Missense Skin COSM2251484 SMEK1 c.1019C>T p.A340V Substitution - Missense Stomach COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5548651 PRDM2 c.4331C>T p.A1444V Substitution - Missense Prostate COSM2911465 NCOA1 c.3625A>G p.M1209V Substitution - Missense Central_nervous_system COSM5550665 PRMT7 c.253G>A p.A85T Substitution - Missense Prostate COSM3080611 ACTL6B c.1050G>A p.G350G Substitution - coding silent Skin COSM4728606 SMYD1 c.783A>G p.E261E Substitution - coding silent Large_intestine COSM4582728 BAZ2B c.4609G>A p.G1537R Substitution - Missense Bone COSM3947397 PRDM9 c.1380C>G p.S460S Substitution - coding silent Lung COSM1605323 TRIM66 c.1397A>C p.H466P Substitution - Missense Liver COSM3991655 NCOA6 c.4516A>G p.K1506E Substitution - Missense Kidney COSM3717735 CHD3 c.1135C>T p.Q379* Substitution - Nonsense Liver COSM1190345 SETD4 c.901+3T>A p.? Unknown Lung COSM3637533 STK31 c.371G>A p.R124Q Substitution - Missense Skin COSM2067307 KDM5A c.1406C>T p.P469L Substitution - Missense Large_intestine COSM5393245 SMARCB1 c.494C>T p.P165L Substitution - Missense Skin COSM3724495 DNMT3A c.? p.S304fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM133001 ARID1A c.5548_5548delG p.D1850fs*33 Deletion - Frameshift Large_intestine COSM4807076 KMT2D c.1795C>G p.L599V Substitution - Missense Pancreas COSM3387435 CREBBP c.5343C>T p.H1781H Substitution - coding silent Pancreas COSM1641674 BAZ2B c.2641G>A p.A881T Substitution - Missense Stomach COSM240452 L3MBTL4 c.1112A>T p.K371M Substitution - Missense Prostate COSM2810356 ASXL3 c.1739delA p.V583fs*59 Deletion - Frameshift Oesophagus COSM990447 DNMT1 c.1885G>A p.D629N Substitution - Missense Endometrium COSM24595 SMARCB1 c.157C>T p.R53* Substitution - Nonsense Endometrium COSM2066501 KDM5A c.3123G>A p.P1041P Substitution - coding silent Large_intestine COSM3696684 CLOCK c.875G>T p.R292M Substitution - Missense Large_intestine COSM3846799 ACTL6A c.333C>G p.V111V Substitution - coding silent Breast COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Breast COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Biliary_tract COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM51424 ARID1A c.1029_1043del15 p.A344_A348del Deletion - In frame Liver COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM87138 TET2 c.3893G>A p.C1298Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87112 TET2 c.2896C>T p.Q966* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM125563 PRDM14 c.518C>T p.S173L Substitution - Missense Upper_aerodigestive_tract COSM136763 SFMBT2 c.2582C>G p.P861R Substitution - Missense Skin COSM148139 PRDM7 c.404C>A p.T135K Substitution - Missense Large_intestine COSM166299 TET2 c.1013_1013delA p.N338fs*9 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM162453 MEN1 c.1779C>A p.S593S Substitution - coding silent Breast COSM215539 KMT2D c.3749G>T p.C1250F Substitution - Missense Central_nervous_system COSM233446 SMARCA2 c.511C>T p.P171S Substitution - Missense Skin COSM231855 BRPF1 c.1073C>T p.P358L Substitution - Missense Skin COSM246963 RBBP5 c.668G>C p.R223T Substitution - Missense Prostate COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Skin COSM240096 HELLS c.190C>T p.R64W Substitution - Missense Skin COSM267171 PHF19 c.69G>A p.K23K Substitution - coding silent Liver COSM291200 ORC1 c.698C>A p.A233D Substitution - Missense Large_intestine COSM291735 CREBBP c.5039_5041delCCT p.S1680delS Deletion - In frame Oesophagus COSM348206 MGMT c.133G>T p.E45* Substitution - Nonsense Lung COSM422483 ATRX c.7048C>G p.L2350V Substitution - Missense Urinary_tract COSM420720 NIPBL c.2598A>G p.L866L Substitution - coding silent Urinary_tract COSM436084 NCOR1 c.6688C>T p.Q2230* Substitution - Nonsense Breast COSM445986 TBL1XR1 c.423_424insTA p.A142fs*1 Insertion - Frameshift Breast COSM459083 SETD3 c.1482G>A p.E494E Substitution - coding silent Cervix COSM450633 SHPRH c.19C>G p.R7G Substitution - Missense Breast COSM681068 PHC2 c.387G>T p.A129A Substitution - coding silent Lung COSM1027514 ZMYND8 c.3195G>A p.S1065S Substitution - coding silent Endometrium COSM709529 SETBP1 c.1234G>T p.D412Y Substitution - Missense Lung COSM908301 HDAC1 c.1397_1399delAGG p.E468delE Deletion - In frame Large_intestine COSM1038806 HDAC11 c.827C>T p.A276V Substitution - Missense Endometrium COSM1077970 RING1 c.898G>A p.A300T Substitution - Missense Endometrium COSM1114022 ZBTB33 c.559G>A p.D187N Substitution - Missense Endometrium COSM1122203 HDAC6 c.2611G>T p.E871* Substitution - Nonsense Endometrium COSM1125515 ATRX c.595-1G>T p.? Unknown Endometrium COSM1127129 LBR c.428A>G p.D143G Substitution - Missense Prostate COSM1100849 CHD7 c.5741G>A p.R1914H Substitution - Missense Endometrium COSM1091558 BAZ1B c.3348G>A p.K1116K Substitution - coding silent Endometrium COSM1095762 ATAD2 c.1783C>A p.L595I Substitution - Missense Endometrium COSM1231707 UHRF1 c.1023C>G p.D341E Substitution - Missense Large_intestine COSM1169632 PBRM1 c.138+2delT p.? Unknown Kidney COSM1257787 KMT2D c.15717C>A p.T5239T Substitution - coding silent Oesophagus COSM1169592 PBRM1 c.4032_4032delG p.Q1344fs*40 Deletion - Frameshift Kidney COSM1265382 SFMBT2 c.643A>C p.R215R Substitution - coding silent Oesophagus COSM1605812 EP400 c.8633C>T p.A2878V Substitution - Missense Liver COSM1311414 CHD1 c.213A>C p.E71D Substitution - Missense Urinary_tract COSM1387257 KDM6B c.74C>T p.A25V Substitution - Missense Large_intestine COSM1468629 PHF8 c.1733C>T p.T578M Substitution - Missense Large_intestine COSM1443236 TCF19 c.935G>A p.G312D Substitution - Missense Stomach COSM1348874 SFMBT2 c.1879C>T p.R627C Substitution - Missense Large_intestine COSM1360392 ATF7IP c.1462C>T p.P488S Substitution - Missense Large_intestine COSM1511174 EP400 c.8260C>T p.Q2754* Substitution - Nonsense Breast COSM1476836 CHD4 c.2710C>A p.P904T Substitution - Missense Endometrium COSM1615458 DNMT3B c.1718G>T p.R573L Substitution - Missense Liver COSM1618463 PRMT10 c.237T>G p.A79A Substitution - coding silent Liver COSM1622513 EZH2 c.492G>T p.G164G Substitution - coding silent Liver COSM1672258 KDM1B c.862C>T p.R288* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1716414 CTCF c.610_611insA p.T204fs*26 Insertion - Frameshift Endometrium COSM1699409 TIF1 c.1248T>A p.N416K Substitution - Missense Skin COSM1662778 KMT2A c.770A>G p.K257R Substitution - Missense Kidney COSM1661127 CHD6 c.7669A>T p.T2557S Substitution - Missense Kidney COSM1736896 KDM1B c.613G>A p.V205I Substitution - Missense Central_nervous_system COSM3013872 PRDM9 c.2453A>T p.H818L Substitution - Missense Upper_aerodigestive_tract COSM3180216 SUZ12 c.1552G>A p.G518R Substitution - Missense Large_intestine COSM3236602 HCFC1 c.700C>T p.R234C Substitution - Missense Small_intestine COSM3296117 MBD5 c.1120G>A p.V374I Substitution - Missense Upper_aerodigestive_tract COSM3374597 STK31 c.2929G>C p.E977Q Substitution - Missense Thyroid COSM3495803 BAZ1A c.4389C>T p.V1463V Substitution - coding silent Skin COSM3443977 KMT2A c.5404T>A p.Y1802N Substitution - Missense Skin COSM3461189 HDAC7 c.2200G>A p.D734N Substitution - Missense Skin COSM3622275 ARID1B c.2691C>T p.N897N Substitution - coding silent Skin COSM3512603 CDYL2 c.1363G>A p.V455M Substitution - Missense Skin COSM3675825 SFMBT2 c.1330+7A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3773964 NCOA1 c.2493T>G p.C831W Substitution - Missense Kidney COSM3806485 TDRD1 c.2342G>A p.R781H Substitution - Missense Biliary_tract COSM3801827 POGZ c.3225C>G p.F1075L Substitution - Missense Breast COSM3928066 NCOA7 c.1141T>C p.S381P Substitution - Missense Central_nervous_system COSM3929368 ATAD2 c.1982C>G p.T661S Substitution - Missense Central_nervous_system COSM3825314 PRMT10 c.367T>G p.Y123D Substitution - Missense Breast COSM3901322 PRDM14 c.1331G>A p.R444Q Substitution - Missense Stomach COSM3903663 PHF19 c.1097C>T p.S366F Substitution - Missense Stomach COSM3944551 CDY1B c.1362G>T p.R454S Substitution - Missense Lung COSM3966506 EYA3 c.604A>G p.I202V Substitution - Missense Central_nervous_system COSM3974649 TET2 c.1735C>G p.L579V Substitution - Missense Central_nervous_system COSM4014449 ERCC6 c.2125G>A p.V709I Substitution - Missense Stomach COSM4031011 ARID1A c.3539+1G>A p.? Unknown Stomach COSM4046315 MPHOSPH8 c.1984G>A p.V662I Substitution - Missense Stomach COSM4097803 NCOA6 c.3748G>T p.G1250* Substitution - Nonsense Stomach COSM4147090 KMT2D c.13791T>G p.Y4597* Substitution - Nonsense Thyroid COSM4143810 PRDM16 c.1099G>C p.A367P Substitution - Missense Soft_tissue COSM4165551 TAF3 c.2676-6G>A p.? Unknown Kidney COSM4599879 PRDM9 c.2437T>A p.F813I Substitution - Missense Upper_aerodigestive_tract COSM4495020 KDM6B c.4446C>T p.A1482A Substitution - coding silent Skin COSM4686501 GATAD2B c.1758G>A p.S586S Substitution - coding silent Large_intestine COSM4716358 POGZ c.1427G>A p.R476Q Substitution - Missense Large_intestine COSM4771394 PBRM1 c.275_280TTGACT>TGA p.I92_L94>MM Complex - deletion inframe Kidney COSM4742391 ZCWPW1 c.408C>T p.P136P Substitution - coding silent Large_intestine COSM4626693 TAF3 c.1816G>A p.D606N Substitution - Missense Large_intestine COSM4623768 RERE c.2797A>G p.T933A Substitution - Missense Large_intestine COSM4636026 HAT1 c.552G>T p.W184C Substitution - Missense Large_intestine COSM4749835 DNMT1 c.2377C>T p.H793Y Substitution - Missense Stomach COSM4943644 KMT2A c.7212A>G p.L2404L Substitution - coding silent Liver COSM4931953 SETD4 c.1223T>C p.I408T Substitution - Missense Liver COSM4847459 KDM4D c.348G>C p.Q116H Substitution - Missense Cervix COSM4838602 DHX30 c.849C>G p.L283L Substitution - coding silent Skin COSM4820946 SMC1A c.2404G>A p.E802K Substitution - Missense Cervix COSM4957300 ACTA1 c.429C>T p.S143S Substitution - coding silent Liver COSM4952813 PRMT8 c.786C>A p.I262I Substitution - coding silent Liver COSM4949883 KMT2D c.13265+1G>T p.? Unknown Liver COSM4991368 ASXL1 c.1839C>T p.T613T Substitution - coding silent Skin COSM5035308 CHD4 c.931G>T p.E311* Substitution - Nonsense Oesophagus COSM5062235 JHDM1D c.2755G>A p.A919T Substitution - Missense Stomach COSM5056037 SETBP1 c.2864C>T p.A955V Substitution - Missense Large_intestine COSM5346932 ARID1A c.2973_2974delAG p.E992fs*14 Deletion - Frameshift Endometrium COSM5391882 NCOA6 c.602C>T p.P201L Substitution - Missense Skin COSM5404102 PRDM1 c.1032C>T p.S344S Substitution - coding silent Skin COSM5353179 ZMYM1 c.2391C>A p.N797K Substitution - Missense Large_intestine COSM5359022 ASH2L c.777+2T>C p.? Unknown Large_intestine COSM5429478 MINA c.1091G>C p.R364T Substitution - Missense Oesophagus COSM5633729 DUSP1 c.178A>G p.M60V Substitution - Missense Oesophagus COSM5725085 NCOR1 c.5065C>T p.P1689S Substitution - Missense Skin COSM5609442 MSH6 c.1051C>A p.H351N Substitution - Missense Skin COSM5587271 BAZ2B c.4095C>T p.L1365L Substitution - coding silent Skin COSM5615701 CDYL c.94A>T p.R32* Substitution - Nonsense Lung COSM5591417 JARID2 c.1702C>T p.H568Y Substitution - Missense Skin COSM5671280 EP300 c.3482G>T p.G1161V Substitution - Missense Soft_tissue COSM5679708 TBL1XR1 c.547C>A p.L183I Substitution - Missense Soft_tissue COSM5776683 NCOA5 c.629+5G>T p.? Unknown Breast COSM5791660 SCML2 c.148G>C p.E50Q Substitution - Missense Breast COSM5812673 PRMT8 c.830A>T p.E277V Substitution - Missense Liver COSM5902036 SETBP1 c.3298C>T p.H1100Y Substitution - Missense Skin COSM5890432 PHF2 c.1196C>T p.A399V Substitution - Missense Skin COSM5886899 TP53BP1 c.5291-1G>A p.? Unknown Skin COSM5967514 MSH6 c.930_931insT p.K311fs*1 Insertion - Frameshift Endometrium COSM5997541 KMT2C c.3540T>C p.T1180T Substitution - coding silent Prostate COSM5977261 KIAA2026_ENST00000399933 c.1517G>T p.R506L Substitution - Missense Upper_aerodigestive_tract COSM6016024 CREBBP c.7013C>G p.S2338C Substitution - Missense Skin COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5574291 ASXL1 c.? p.G646fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM132980 ASXL1 c.? p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4972323 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5909837 PHF20 c.1745C>T p.S582L Substitution - Missense Skin COSM722982 KDM3A c.713T>A p.L238Q Substitution - Missense Lung COSM422817 PBRM1 c.3601G>T p.E1201* Substitution - Nonsense Kidney COSM1668900 MSH6 c.3566C>T p.T1189I Substitution - Missense Large_intestine COSM1297443 KAT6B c.406C>G p.Q136E Substitution - Missense Urinary_tract COSM23305 HDAC2 c.1225C>T p.R409* Substitution - Nonsense Skin COSM4478090 PHF1 c.220C>T p.L74L Substitution - coding silent Skin COSM1693772 MECOM c.2353A>G p.N785D Substitution - Missense Skin COSM1108 SMARCB1 c.? p.? Unknown Soft_tissue COSM3953825 RSF1 c.632C>A p.P211H Substitution - Missense Lung COSM1243597 SFMBT2 c.2006A>G p.K669R Substitution - Missense Oesophagus COSM3733522 NCOR1 c.59A>C p.Y20S Substitution - Missense Upper_aerodigestive_tract COSM5006574 BAP1 c.? p.L709F Substitution - Missense Kidney COSM279876 CHD9 c.6888C>A p.F2296L Substitution - Missense Large_intestine COSM1453172 TRRAP c.4464C>T p.S1488S Substitution - coding silent Large_intestine COSM5015651 TRIM28 c.2084A>G p.K695R Substitution - Missense Kidney COSM1556051 SMARCA1 c.1029G>A p.L343L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM84465 DOT1L c.1311C>T p.H437H Substitution - coding silent Pancreas COSM3818037 GLYR1 c.459G>C p.E153D Substitution - Missense Breast COSM4147408 CHD4 c.1006A>C p.T336P Substitution - Missense Thyroid COSM1075365 ARID1B c.6114G>T p.M2038I Substitution - Missense Endometrium COSM5427493 PHF6 c.785A>T p.D262V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM267293 PYGO2 c.448_449insC p.Q150fs*27 Insertion - Frameshift Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2812145 SETBP1 c.4347C>T p.F1449F Substitution - coding silent Skin COSM13867 EP300 c.4355C>T p.P1452L Substitution - Missense Upper_aerodigestive_tract COSM488463 KDM5C c.1586G>A p.G529D Substitution - Missense Kidney COSM1628792 CHD4 c.3696T>A p.T1232T Substitution - coding silent Liver COSM5635391 TRRAP c.8117A>C p.K2706T Substitution - Missense Oesophagus COSM365437 KDM4C c.2104C>T p.P702S Substitution - Missense Lung COSM4762568 SETDB1 c.1505G>C p.G502A Substitution - Missense Stomach COSM251411 ARID2 c.5174C>G p.S1725* Substitution - Nonsense Liver COSM5466839 BRPF3 c.2861A>G p.H954R Substitution - Missense Large_intestine COSM1488978 ATAD2 c.1243G>C p.D415H Substitution - Missense Breast COSM211632 TET2 c.5609C>T p.S1870L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4805501 TRRAP c.8853G>T p.T2951T Substitution - coding silent Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5347019 ARID1A c.2123A>C p.Q708P Substitution - Missense Upper_aerodigestive_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5410830 EHMT1 c.1364C>T p.S455F Substitution - Missense Skin COSM5618967 KDM2B c.2091C>T p.D697D Substitution - coding silent Breast COSM1179107 KMT2C c.851G>A p.R284Q Substitution - Missense Central_nervous_system COSM3583873 SMYD1 c.1073C>T p.S358L Substitution - Missense Stomach COSM5427326 PHIP c.3468G>A p.W1156* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4563488 HDAC4 c.976G>A p.E326K Substitution - Missense Skin COSM4145531 PRDM10 c.3370C>T p.L1124L Substitution - coding silent Thyroid COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM2225844 SETD8 c.332C>T p.S111F Substitution - Missense Large_intestine COSM133583 ASXL1 c.3503G>C p.S1168T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5153181 PHF19 c.1144G>A p.E382K Substitution - Missense Biliary_tract COSM907703 ARID1A c.2974G>T p.E992* Substitution - Nonsense Endometrium COSM1236634 HCFC2 c.988T>C p.W330R Substitution - Missense Autonomic_ganglia COSM3547198 NCOA5 c.1357C>T p.P453S Substitution - Missense Skin COSM5350474 SMARCA4 c.3292A>T p.K1098* Substitution - Nonsense Lung COSM1411087 ASXL1 c.2530_2531insC p.S846fs*5 Insertion - Frameshift Large_intestine COSM5607230 ZMYM4 c.2597C>T p.S866F Substitution - Missense Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5995076 DHX30 c.1587C>T p.G529G Substitution - coding silent Prostate COSM907737 ARID1A c.5228C>T p.T1743M Substitution - Missense Stomach COSM4402472 PHC2 c.1910C>T p.P637L Substitution - Missense Skin COSM4447258 SUZ12 c.1202-3C>A p.? Unknown Skin COSM53108 TET2 c.? p.P1941S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1681738 NCOA3 c.955T>G p.Y319D Substitution - Missense Ovary COSM3750192 PHF2 c.2964G>T p.P988P Substitution - coding silent Large_intestine COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Skin COSM4961132 KMT2D c.299G>A p.G100E Substitution - Missense Liver COSM1215093 MINA c.859C>T p.R287W Substitution - Missense Large_intestine COSM5762263 ATRX c.4125_4125delC p.S1375fs*115 Deletion - Frameshift Central_nervous_system COSM3808471 KMT2A c.1325G>A p.R442Q Substitution - Missense Large_intestine COSM5360762 KMT2A c.5281-1G>A p.? Unknown Large_intestine COSM87001 DNMT3A c.2644C>A p.R882S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4817436 EP300 c.56C>G p.S19* Substitution - Nonsense Cervix COSM4591233 NCOR1 c.534G>C p.K178N Substitution - Missense Upper_aerodigestive_tract COSM4134750 DIDO1 c.5388G>C p.P1796P Substitution - coding silent Thyroid COSM4679191 DOT1L c.466G>A p.D156N Substitution - Missense Large_intestine COSM3800606 KDM6A c.3900G>A p.L1300L Substitution - coding silent Urinary_tract COSM3474978 ASH1L c.1744C>T p.P582S Substitution - Missense Skin COSM5801405 FXR1 c.375_393del19 p.F126fs*6 Deletion - Frameshift Breast COSM1333449 PRDM2 c.852T>A p.D284E Substitution - Missense Large_intestine COSM5413153 BRWD3 c.1459G>A p.D487N Substitution - Missense Skin COSM5380521 ARID1A c.5351A>G p.N1784S Substitution - Missense Skin COSM1666862 ARID1A c.? p.? Unknown Ovary COSM3909076 PHF2 c.1440G>A p.P480P Substitution - coding silent Stomach COSM983277 BPTF c.1012A>T p.K338* Substitution - Nonsense Endometrium COSM3881872 ACTB c.658G>A p.A220T Substitution - Missense Stomach COSM2698494 MYST2 c.1377delT p.S461fs*22 Deletion - Frameshift Large_intestine COSM4460902 ASXL3 c.305C>A p.S102Y Substitution - Missense Skin COSM5730244 KIAA2026_ENST00000399933 c.3618_3621delTGAG p.S1206fs*36 Deletion - Frameshift Skin COSM5466610 PRDM13 c.1598C>T p.A533V Substitution - Missense Large_intestine COSM1753989 BRD8 c.671C>T p.S224F Substitution - Missense Upper_aerodigestive_tract COSM3632985 SND1 c.722C>T p.P241L Substitution - Missense Skin COSM423124 PBRM1 c.3523delC p.R1175fs*43 Deletion - Frameshift Kidney COSM3375157 BRD3 c.588C>T p.I196I Substitution - coding silent Thyroid COSM43412 TET2 c.?_?del? p.?fs Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5727349 ZCWPW1 c.1573C>T p.P525S Substitution - Missense Skin COSM385468 CHD6 c.2083C>G p.Q695E Substitution - Missense Lung COSM1299456 KMT2D c.955-1G>A p.? Unknown Urinary_tract COSM1495901 KDM3B c.3791C>T p.A1264V Substitution - Missense Kidney COSM442450 SP110 c.2134C>T p.L712F Substitution - Missense Breast COSM4788471 HDAC9 c.375G>A p.Q125Q Substitution - coding silent Liver COSM3637067 HDAC9 c.2126C>T p.P709L Substitution - Missense Skin COSM5467489 NCOA2 c.1837A>C p.N613H Substitution - Missense Large_intestine COSM1026853 CHD6 c.5224G>T p.D1742Y Substitution - Missense Endometrium COSM4450036 NIPBL c.4240-1G>A p.? Unknown Skin COSM255135 MEN1 c.? p.L264P Substitution - Missense Parathyroid COSM3618954 CHD1 c.3912C>T p.T1304T Substitution - coding silent Skin COSM2874663 NCOA2 c.450C>T p.N150N Substitution - coding silent Large_intestine COSM3592023 KAT2B c.668A>T p.Q223L Substitution - Missense Skin COSM1048012 ATXN7 c.1120G>T p.A374S Substitution - Missense Endometrium COSM749482 ATAD2 c.50C>A p.S17* Substitution - Nonsense Lung COSM1385958 PHF23 c.291C>A p.S97S Substitution - coding silent Large_intestine COSM2158493 JMJD1C c.2675C>T p.S892F Substitution - Missense Large_intestine COSM4168480 HDAC9 c.1417C>A p.Q473K Substitution - Missense Peritoneum COSM4789290 SFMBT1 c.159G>A p.G53G Substitution - coding silent Liver COSM5755684 BRWD1 c.3351C>T p.S1117S Substitution - coding silent Large_intestine COSM1716184 EZH2 c.? p.A682G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1155724 ASXL1 c.? p.R1171R Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM36166 ASXL1 c.1772_1773insA p.Y591fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1332873 TRIM33 c.2864C>T p.A955V Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3879978 HDAC9 c.1327T>C p.L443L Substitution - coding silent Stomach COSM979603 EZH1 c.1015C>A p.L339I Substitution - Missense Endometrium COSM3820329 BPTF c.4221A>G p.I1407M Substitution - Missense Breast COSM4988906 PRDM9 c.1907A>T p.Y636F Substitution - Missense Soft_tissue COSM3394690 STK31 c.231G>T p.G77G Substitution - coding silent Pancreas COSM1122143 SUV39H1 c.69C>T p.C23C Substitution - coding silent Endometrium COSM32762 PRDM4 c.1276+1G>A p.? Unknown Breast COSM5695075 KDM4B c.2040G>T p.T680T Substitution - coding silent Soft_tissue COSM4982215 CHD3 c.5292G>A p.Q1764Q Substitution - coding silent Oesophagus COSM4790697 JMJD6 c.842C>G p.T281S Substitution - Missense Liver COSM5945142 EZH2 c.1A>G p.M1V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM20998 TAF1 c.983_988delTAGATA p.I328_K330>K Complex - deletion inframe Breast COSM1748819 BAZ1A c.1651G>C p.E551Q Substitution - Missense Urinary_tract COSM414031 GATAD2B c.392A>G p.N131S Substitution - Missense Urinary_tract COSM1075247 JARID2 c.1727C>T p.S576L Substitution - Missense Stomach COSM1614670 DNMT3A c.1531G>T p.G511* Substitution - Nonsense Liver COSM1023028 PCGF1 c.519C>T p.S173S Substitution - coding silent Endometrium COSM1158211 CXXC1 c.598delC p.R200fs*27 Deletion - Frameshift Pancreas COSM5632909 SP100 c.718C>G p.Q240E Substitution - Missense Oesophagus COSM88738 CREBBP c.4337G>T p.R1446L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM143785 EP300 c.? p.Q974* Substitution - Nonsense Skin COSM144557 DNMT3A c.(1668_1671)ins65 p.557fs*? Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM307767 ASXL1 c.1902_1924del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4728366 SMC1A c.2695G>A p.G899R Substitution - Missense Large_intestine COSM389333 ATAD2B_ENST00000238789 c.1674C>T p.L558L Substitution - coding silent Lung COSM5046804 KMT2D c.9585_9586insG p.P3196fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM694487 SMARCC2 c.215C>T p.P72L Substitution - Missense Lung COSM1706180 HCFC2 c.218C>T p.A73V Substitution - Missense Liver COSM3724487 SMARCA4 c.1165_1165delC p.S391fs*20 Deletion - Frameshift Ovary COSM3341251 NSD1 c.7130A>C p.K2377T Substitution - Missense Large_intestine COSM1018657 ATAD2B_ENST00000238789 c.1861G>A p.A621T Substitution - Missense Endometrium COSM1493380 MGA c.1577C>T p.S526L Substitution - Missense Kidney COSM42046 TET2 c.3967G>T p.E1323* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4385365 KDM6A c.635C>T p.A212V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3855039 NIPBL c.5455C>T p.R1819* Substitution - Nonsense Stomach COSM2967945 KDM5C c.2386G>A p.A796T Substitution - Missense Large_intestine COSM5939054 ACTL6A c.451C>T p.L151F Substitution - Missense Skin COSM4219255 PRDM2 c.2104A>C p.T702P Substitution - Missense Skin COSM127906 ERCC6 c.4122A>G p.A1374A Substitution - coding silent Upper_aerodigestive_tract COSM3398442 HNF1A c.1606C>T p.L536F Substitution - Missense Central_nervous_system COSM1027535 ZMYND8 c.159G>A p.S53S Substitution - coding silent Endometrium COSM745611 HDAC9 c.1551G>C p.A517A Substitution - coding silent Lung COSM3622184 JARID2 c.3240C>T p.T1080T Substitution - coding silent Skin COSM6004596 ZMYND8 c.2800-4C>A p.? Unknown Prostate COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1681474 TRIM28 c.544C>T p.Q182* Substitution - Nonsense Lung COSM4723951 SCMH1 c.1489C>T p.R497C Substitution - Missense Large_intestine COSM5454450 CREBBP c.7023C>A p.N2341K Substitution - Missense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3474980 ASH1L c.1235C>A p.P412H Substitution - Missense Skin COSM21700 KDM1A c.577+5G>T p.? Unknown Lung COSM4522754 SMYD3 c.1002G>A p.L334L Substitution - coding silent Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1640469 MYST1 c.1046C>A p.P349Q Substitution - Missense Stomach COSM1753301 BAP1 c.692T>C p.M231T Substitution - Missense Urinary_tract COSM4671968 CHD2 c.2537G>A p.R846Q Substitution - Missense Large_intestine COSM5482889 CHD8 c.7308A>T p.G2436G Substitution - coding silent Large_intestine COSM24028 TRIM24 c.2871C>T p.S957S Substitution - coding silent Breast COSM5035330 SMARCA2 c.2723C>T p.T908I Substitution - Missense Oesophagus COSM4903134 EYA1 c.903G>A p.G301G Substitution - coding silent Skin COSM132978 ASXL1 c.? p.R965* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM935970 HNF1A c.341G>A p.R114H Substitution - Missense Urinary_tract COSM3400646 ARID1A c.2752A>G p.M918V Substitution - Missense Central_nervous_system COSM4607637 SETD1A c.904G>T p.E302* Substitution - Nonsense Adrenal_gland COSM323983 TRIM33 c.2245G>T p.G749C Substitution - Missense Lung COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Biliary_tract COSM4110244 PHF8 c.938T>C p.I313T Substitution - Missense Stomach COSM4019328 PRDM10 c.1267A>G p.K423E Substitution - Missense Stomach COSM4555342 EYA4 c.650G>A p.S217N Substitution - Missense Skin COSM5789893 CHD3 c.4978G>A p.E1660K Substitution - Missense Breast COSM1727597 ARID1A c.3257_3264delGCAGTGCT p.S1087fs*15 Deletion - Frameshift Liver COSM4035921 KDM2A c.3293A>G p.E1098G Substitution - Missense Stomach COSM4610300 ARID4A c.3266G>A p.R1089H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3547347 ZMYND8 c.3177C>T p.S1059S Substitution - coding silent Skin COSM377834 PRMT3 c.794G>T p.G265V Substitution - Missense Lung COSM3296292 EPC2 c.1472T>C p.I491T Substitution - Missense Large_intestine COSM255213 MEN1 c.1621A>G p.T541A Substitution - Missense Soft_tissue COSM1488821 TRRAP c.7959G>A p.A2653A Substitution - coding silent Breast COSM5804249 RUVBL1 c.231A>T p.T77T Substitution - coding silent Liver COSM3296123 MBD5 c.1224A>T p.P408P Substitution - coding silent Upper_aerodigestive_tract COSM5019889 SETBP1 c.3388C>A p.P1130T Substitution - Missense Soft_tissue COSM4015207 SIRT1 c.1339C>T p.P447S Substitution - Missense Stomach COSM5407174 HDAC9 c.1270C>T p.Q424* Substitution - Nonsense Skin COSM259610 BAZ2B c.3648C>A p.F1216L Substitution - Missense Large_intestine COSM725218 SETD4 c.373C>G p.L125V Substitution - Missense Lung COSM5579449 RAI1 c.705C>T p.S235S Substitution - coding silent Skin COSM4170445 KMT2D c.3539A>G p.H1180R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1163361 WHSC1 c.4020_4021insC p.E1344fs*>23 Insertion - Frameshift Large_intestine COSM435127 SRCAP c.5637A>C p.P1879P Substitution - coding silent Breast COSM942080 MBD6 c.392G>A p.S131N Substitution - Missense Endometrium COSM1369026 CHD8 c.2263C>T p.P755S Substitution - Missense Large_intestine COSM687265 PRDM10 c.868G>T p.A290S Substitution - Missense Lung COSM4444897 PHC3 c.341G>T p.G114V Substitution - Missense Large_intestine COSM1190257 ACTR5 c.628C>T p.R210C Substitution - Missense Lung COSM4040533 ATF7IP c.935A>C p.K312T Substitution - Missense Stomach COSM1304323 DOT1L c.3339C>T p.V1113V Substitution - coding silent Urinary_tract COSM1026882 CHD6 c.970A>C p.N324H Substitution - Missense Endometrium COSM3358550 PBRM1 c.1442delA p.Q481fs*19 Deletion - Frameshift Kidney COSM4765102 ARID1A c.2803_2804insAATA p.N935fs*2 Insertion - Frameshift Stomach COSM4100483 ZGPAT c.1526G>A p.R509Q Substitution - Missense Stomach COSM5884847 TAF1L c.664T>C p.S222P Substitution - Missense Soft_tissue COSM203096 ATAD2 c.354delA p.E119fs*8 Deletion - Frameshift Pancreas COSM927030 PRDM11 c.1348C>T p.R450C Substitution - Missense Large_intestine COSM5640136 JMJD1C c.5178T>C p.N1726N Substitution - coding silent Oesophagus COSM5565340 KAT5 c.821G>A p.R274H Substitution - Missense Oesophagus COSM26722 MSH6 c.2815C>T p.Q939* Substitution - Nonsense Skin COSM13394 MSH6 c.3261_3262insC p.F1088fs*5 Insertion - Frameshift Large_intestine COSM1262027 PHC1 c.2013A>C p.K671N Substitution - Missense Stomach COSM2007600 KDM5A c.227G>A p.R76H Substitution - Missense Large_intestine COSM725898 DNMT3L c.232-1G>T p.? Unknown Lung COSM403561 ATRX c.7412C>A p.P2471Q Substitution - Missense Lung COSM3768015 PRDM8 c.429T>C p.S143S Substitution - coding silent Liver COSM3378377 KDM6B c.496C>T p.R166* Substitution - Nonsense Pancreas COSM13394 MSH6 c.3261_3262insC p.F1088fs*5 Insertion - Frameshift Endometrium COSM2848384 GABRG1 c.866G>T p.W289L Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1043292 KAT2B c.1469G>A p.R490H Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM6008036 MGA c.3344G>A p.G1115E Substitution - Missense Prostate COSM3666979 KDM2A c.686A>C p.K229T Substitution - Missense Liver COSM228110 KMT2C c.1042G>A p.D348N Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4476466 MPHOSPH8 c.206C>T p.T69I Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4689523 HAT1 c.1006C>T p.R336* Substitution - Nonsense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM187703 MGA c.7450C>T p.R2484W Substitution - Missense Prostate COSM1739888 HCFC2 c.343C>A p.P115T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1215186 KMT2A c.9251A>G p.N3084S Substitution - Missense Large_intestine COSM485218 STK31 c.1399C>T p.R467C Substitution - Missense Kidney COSM150037 CDYL c.25T>C p.S9P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM896920 ASH1L c.5293C>A p.L1765I Substitution - Missense Endometrium COSM1109476 KIAA2026_ENST00000399933 c.1720C>T p.R574C Substitution - Missense Endometrium COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM5997288 TRIM24 c.1624C>A p.P542T Substitution - Missense Prostate COSM417010 CREBBP c.3454C>T p.Q1152* Substitution - Nonsense Urinary_tract COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM4435714 TDG c.252A>G p.K84K Substitution - coding silent Oesophagus COSM1738146 EZH2 c.1_2256del2256 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM3374762 ATAD2 c.1738A>G p.I580V Substitution - Missense Thyroid COSM85584 ARID1A c.5947_5948delTG p.S1985fs*13 Deletion - Frameshift Endometrium COSM4429309 KMT2C c.8098G>A p.D2700N Substitution - Missense Oesophagus COSM1095744 ATAD2 c.4099C>T p.R1367C Substitution - Missense Endometrium COSM1339916 ACTA1 c.435C>T p.Y145Y Substitution - coding silent Large_intestine COSM3370888 PHF23 c.399C>G p.L133L Substitution - coding silent Thyroid COSM1327569 ADNP c.1688A>G p.H563R Substitution - Missense Ovary COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Pancreas COSM1181719 ACTL6B c.258G>T p.K86N Substitution - Missense Oesophagus COSM5630077 MBD5 c.1801A>T p.S601C Substitution - Missense Oesophagus COSM3341235 NSD1 c.6595C>T p.R2199C Substitution - Missense Large_intestine COSM1377460 SRCAP c.2210G>A p.R737H Substitution - Missense Large_intestine COSM211712 TET2 c.3483A>C p.R1161S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM352514 CHD8 c.3579C>T p.D1193D Substitution - coding silent Lung COSM4449419 BAG6 c.2228-1G>A p.? Unknown Skin COSM4664724 ATXN7 c.1815G>A p.L605L Substitution - coding silent Large_intestine COSM1294870 PRDM2 c.1913A>G p.K638R Substitution - Missense Urinary_tract COSM221578 DNMT3A c.2485A>T p.K829* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM920211 SFMBT2 c.3G>T p.M1I Substitution - Missense Endometrium COSM132968 ASXL1 c.? p.E635fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM4517886 PRDM2 c.4536_4537CC>TT p.H1513Y Substitution - Missense Skin COSM4618380 BRPF1 c.2590A>G p.T864A Substitution - Missense Large_intestine COSM219133 DNMT3A c.2245C>T p.R749C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM751053 CHD7 c.4778G>T p.R1593L Substitution - Missense Endometrium COSM51248 ARID1A c.6791C>G p.S2264* Substitution - Nonsense Ovary COSM106795 DNMT3L c.714C>T p.F238F Substitution - coding silent Skin COSM87107 TET2 c.2604T>G p.F868L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM109203 STK31 c.2308G>A p.V770M Substitution - Missense Skin COSM231548 DNMT3A c.2409_2478del70 p.R803fs*5 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM160790 EP300 c.2090G>A p.S697N Substitution - Missense Breast COSM164202 SCML2 c.330C>T p.V110V Substitution - coding silent Skin COSM171638 PRDM10 c.2548C>T p.R850* Substitution - Nonsense Endometrium COSM189021 ARID2 c.853C>T p.R285W Substitution - Missense Endometrium COSM195651 JMJD6 c.1136C>T p.T379M Substitution - Missense Large_intestine COSM219514 KDM3B c.3340G>A p.A1114T Substitution - Missense Breast COSM277619 TBL1XR1 c.846A>G p.L282L Substitution - coding silent Large_intestine COSM290211 TAF1L c.9C>T p.P3P Substitution - coding silent Large_intestine COSM303906 ASXL1 c.2389G>T p.E797* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM362599 KMT2C c.1184+1G>T p.? Unknown Lung COSM428709 PRDM10 c.70G>T p.V24L Substitution - Missense Breast COSM443955 NCOA3 c.4010C>T p.S1337L Substitution - Missense Skin COSM455884 KIAA1045 c.1162C>T p.R388C Substitution - Missense Prostate COSM460547 CREBBP c.637C>T p.L213F Substitution - Missense Cervix COSM457987 TAF1 c.2327T>G p.L776* Substitution - Nonsense Breast COSM985410 CBX4 c.890G>A p.R297Q Substitution - Missense Endometrium COSM485091 KMT2C c.6488C>A p.P2163H Substitution - Missense Kidney COSM692642 KDM2B c.2746G>A p.D916N Substitution - Missense Lung COSM1049122 BRPF1 c.692G>A p.R231H Substitution - Missense Endometrium COSM1023490 KDM3A c.561C>A p.D187E Substitution - Missense Upper_aerodigestive_tract COSM937508 ATF7IP c.2710C>T p.R904* Substitution - Nonsense Endometrium COSM757503 ATRX c.3911G>T p.G1304V Substitution - Missense Lung COSM750346 MYST3 c.5563A>T p.I1855F Substitution - Missense Lung COSM750499 ASH2L c.214G>A p.G72S Substitution - Missense Lung COSM739796 PRDM1 c.497G>C p.R166P Substitution - Missense Lung COSM907697 ARID1A c.2208_2209insAT p.M737fs*6 Insertion - Frameshift Endometrium COSM907726 ARID1A c.4336C>T p.R1446* Substitution - Nonsense Stomach COSM1034766 TCF20 c.3200C>T p.T1067I Substitution - Missense Endometrium COSM1073495 EYA4 c.1912T>A p.Y638N Substitution - Missense Endometrium COSM1077735 EHMT2 c.663C>A p.T221T Substitution - coding silent Endometrium COSM971426 CHD9 c.4720C>A p.L1574I Substitution - Missense Endometrium COSM1099585 WHSC1L1 c.1295A>C p.Q432P Substitution - Missense Endometrium COSM1080969 PHF3 c.5220G>A p.Q1740Q Substitution - coding silent Endometrium COSM1262950 PRDM16 c.1534C>G p.P512A Substitution - Missense Oesophagus COSM1190493 HDAC10 c.5G>A p.G2E Substitution - Missense Lung COSM1158368 PRMT3 c.570T>A p.A190A Substitution - coding silent Pancreas COSM1308848 ACTL6A c.723G>C p.E241D Substitution - Missense Urinary_tract COSM1302424 NCOR1 c.6746C>G p.S2249C Substitution - Missense Urinary_tract COSM1299384 ARID2 c.803C>T p.S268F Substitution - Missense Urinary_tract COSM1302019 CHD9 c.6295G>A p.E2099K Substitution - Missense Urinary_tract COSM1268750 TRRAP c.10431G>A p.V3477V Substitution - coding silent Oesophagus COSM1453418 ZCWPW1 c.1309delG p.E437fs*10 Deletion - Frameshift Large_intestine COSM1458104 EYA1 c.1032C>T p.Y344Y Substitution - coding silent Prostate COSM1352563 PRDM10 c.2756G>T p.R919I Substitution - Missense Large_intestine COSM1670989 GABRG1 c.843C>A p.C281* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1721156 BPTF c.6666_6668delCAC p.T2227delT Deletion - In frame Skin COSM1748374 ZMYM4 c.2055C>T p.L685L Substitution - coding silent Urinary_tract COSM2041390 KDM2A c.2406G>T p.T802T Substitution - coding silent Upper_aerodigestive_tract COSM2139728 IDH2 c.1129C>T p.R377C Substitution - Missense Large_intestine COSM2098605 CHD4 c.1542A>G p.P514P Substitution - coding silent Liver COSM2965428 KDM6A c.2894A>C p.N965T Substitution - Missense Large_intestine COSM3096255 HDAC8 c.258C>T p.G86G Substitution - coding silent Oesophagus COSM3142443 PRDM13 c.1989C>T p.G663G Substitution - coding silent Thyroid COSM3253946 MLL5 c.2276G>A p.R759H Substitution - Missense Pancreas COSM3291676 CHD6 c.4199G>A p.R1400H Substitution - Missense Liver COSM3349897 PHF1 c.674A>G p.Y225C Substitution - Missense Large_intestine COSM3358466 BAP1 c.2097delG p.R700fs*>30 Deletion - Frameshift Kidney COSM3384360 ARID2 c.3799G>T p.E1267* Substitution - Nonsense Skin COSM3374709 TRRAP c.998T>C p.I333T Substitution - Missense Thyroid COSM3406210 SCML2 c.90G>A p.R30R Substitution - coding silent Central_nervous_system COSM3403143 BPTF c.2142T>C p.F714F Substitution - coding silent Central_nervous_system COSM3432965 BRD3 c.946G>A p.D316N Substitution - Missense Stomach COSM3446371 SIRT3 c.504C>T p.L168L Substitution - coding silent Skin COSM3461561 KMT2D c.6880A>C p.S2294R Substitution - Missense Skin COSM3447498 PHF21A c.192A>C p.V64V Substitution - coding silent Skin COSM3636559 KMT2C c.850-1G>A p.? Unknown Skin COSM3589895 MECOM c.602C>T p.S201L Substitution - Missense Skin COSM3563673 BRWD3 c.4443C>T p.D1481D Substitution - coding silent Skin COSM3563682 BRWD3 c.2593G>A p.G865R Substitution - Missense Skin COSM3531382 DOT1L c.120C>T p.T40T Substitution - coding silent Skin COSM3516717 PCGF2 c.541C>T p.L181F Substitution - Missense Skin COSM3720362 DNMT3A c.2191T>G p.F731V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3726960 HELLS c.1175A>G p.E392G Substitution - Missense Skin COSM3737035 ASXL1 c.1926_1926delA p.G645fs*58 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3734279 BTAF1 c.1361T>A p.L454* Substitution - Nonsense Pancreas COSM3737580 ACTL6B c.794A>C p.Q265P Substitution - Missense Soft_tissue COSM3771811 SP140_ENST00000392045 c.2016G>A p.K672K Substitution - coding silent Pancreas COSM3848635 KIAA2026_ENST00000399933 c.2498G>A p.R833K Substitution - Missense Breast COSM3824005 SETD2 c.2204C>A p.S735Y Substitution - Missense Breast COSM3844047 MECP2 c.398G>A p.R133H Substitution - Missense Breast COSM3955649 PHF11 c.309G>C p.Q103H Substitution - Missense Lung COSM4012802 PWWP2B c.1540G>A p.G514S Substitution - Missense Stomach COSM4031511 PRDM16 c.1128C>T p.A376A Substitution - coding silent Stomach COSM3989031 KAT2A c.1363C>G p.P455A Substitution - Missense Kidney COSM4068644 SMARCD2 c.624G>A p.L208L Substitution - coding silent Stomach COSM4145728 PHF21A c.975C>A p.S325R Substitution - Missense Upper_aerodigestive_tract COSM4170035 TET2 c.1888A>T p.K630* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4404777 BRPF3 c.739C>T p.P247S Substitution - Missense Skin COSM4400253 PRDM9 c.1248C>T p.F416F Substitution - coding silent Skin COSM4595704 BTAF1 c.4088C>T p.P1363L Substitution - Missense Upper_aerodigestive_tract COSM4596109 TET2 c.4148G>A p.R1383K Substitution - Missense Upper_aerodigestive_tract COSM4413655 KMT2D c.3332G>T p.G1111V Substitution - Missense Prostate COSM4428344 MYST3 c.2534G>A p.R845H Substitution - Missense Oesophagus COSM4572776 CAMKMT c.861T>A p.N287K Substitution - Missense Skin COSM4436747 MBD6 c.1585C>G p.L529V Substitution - Missense Oesophagus COSM4509099 PHRF1 c.796C>T p.R266* Substitution - Nonsense Skin COSM4411013 PBRM1 c.2354T>G p.L785R Substitution - Missense Kidney COSM4706974 NIPBL c.1692delA p.K566fs*48 Deletion - Frameshift Large_intestine COSM4748850 PRDM16 c.430A>G p.I144V Substitution - Missense Stomach COSM4791566 SMARCA2 c.2123T>C p.I708T Substitution - Missense Liver COSM4800813 JMJD1C c.6641T>C p.I2214T Substitution - Missense Liver COSM4888869 PCGF2 c.95T>A p.V32E Substitution - Missense Upper_aerodigestive_tract COSM4928420 HNF1A c.787C>G p.R263G Substitution - Missense Liver COSM4911636 ARID1B c.4343C>A p.A1448E Substitution - Missense Liver COSM4830357 KMT2D c.12862G>C p.E4288Q Substitution - Missense Cervix COSM4967728 SETD8 c.540_545ACTTAC>ACAC p.L181fs*20 Complex - frameshift Pancreas COSM5003447 AP001011.3_ENST00000320876 c.2329A>T p.K777* Substitution - Nonsense Pancreas COSM5025086 TET2 c.991A>T p.I331L Substitution - Missense Breast COSM5010311 KMT2C c.7443-1_7443insA p.F2482fs*7 Unknown Large_intestine COSM5007629 HDAC11 c.117C>T p.A39A Substitution - coding silent Large_intestine COSM5041712 HDAC9 c.1436A>T p.K479M Substitution - Missense Liver COSM5410003 TDRD7 c.2375G>A p.R792K Substitution - Missense Skin COSM5375180 ARID2 c.5109T>A p.D1703E Substitution - Missense Skin COSM5367653 ACTL6A c.263_264insA p.N90fs*5 Insertion - Frameshift Large_intestine COSM5354061 NCOA1 c.117A>G p.E39E Substitution - coding silent Large_intestine COSM5419554 CREBBP c.3247A>T p.K1083* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5517063 ATAD2B_ENST00000238789 c.1337G>C p.G446A Substitution - Missense Biliary_tract COSM5436354 ZMYM4 c.3124C>A p.P1042T Substitution - Missense Oesophagus COSM5433035 SCMH1 c.1758G>A p.L586L Substitution - coding silent Oesophagus COSM5644689 ZMYND8 c.2662C>T p.P888S Substitution - Missense Oesophagus COSM5651540 SETD5_ENST00000402198 c.3143G>C p.R1048T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5730438 GATAD2B c.857G>A p.R286H Substitution - Missense Breast COSM5708950 TET2 c.296G>C p.S99T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5559041 BPTF c.6764T>G p.L2255R Substitution - Missense Prostate COSM5567404 MBD3 c.590C>A p.S197* Substitution - Nonsense Prostate COSM5731845 ASXL1 c.3959C>T p.A1320V Substitution - Missense Soft_tissue COSM5781362 GTF3C4 c.207G>T p.P69P Substitution - coding silent Breast COSM5879050 TET2 c.5648C>G p.T1883R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5819808 SFMBT2 c.2464T>A p.L822M Substitution - Missense Liver COSM5951053 HDAC5 c.1975A>T p.T659S Substitution - Missense Prostate COSM5915420 NIPBL c.65-8C>T p.? Unknown Skin COSM5906428 DNMT1 c.398C>T p.S133F Substitution - Missense Skin COSM5984683 ZMYM2 c.44C>T p.T15I Substitution - Missense Upper_aerodigestive_tract COSM5983336 SHPRH c.1786G>T p.D596Y Substitution - Missense Upper_aerodigestive_tract COSM6012204 KDM1B c.964-4C>T p.? Unknown Skin COSM6003024 PCGF2 c.826C>A p.L276M Substitution - Missense Prostate COSM5992088 BRWD1 c.1105-6delC p.? Unknown Prostate COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM166348 DNMT3A c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1737891 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1600393 EZH2 c.?_?ins? p.?fs*? Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM132981 ASXL1 c.? p.W796* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM24616 SMARCB1 c.?_?del? p.? Unknown Soft_tissue COSM4086768 HAT1 c.948G>T p.E316D Substitution - Missense Stomach COSM4163941 KIAA2026_ENST00000399933 c.1815T>C p.L605L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3458272 EP400 c.8793G>A p.L2931L Substitution - coding silent Skin COSM122021 TDRD10 c.564C>T p.L188L Substitution - coding silent Upper_aerodigestive_tract COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM5393819 PHF21B c.790A>T p.K264* Substitution - Nonsense Skin COSM5019205 PBRM1 c.996-4delG p.? Unknown Skin COSM1633700 GABRG1 c.1310C>A p.A437D Substitution - Missense Liver COSM686089 BTAF1 c.4002G>A p.P1334P Substitution - coding silent Stomach COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM4605124 WHSC1 c.3259G>A p.E1087K Substitution - Missense Upper_aerodigestive_tract COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM5581286 HDAC4 c.2516G>A p.W839* Substitution - Nonsense Skin COSM4766171 TET2 c.5687G>C p.R1896T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4608396 TRIM66 c.1676C>A p.A559E Substitution - Missense Adrenal_gland COSM2948444 KAT2B c.1016G>A p.R339Q Substitution - Missense Large_intestine COSM1257783 KMT2D c.8449C>T p.R2817W Substitution - Missense Oesophagus COSM1225331 SETBP1 c.2824C>T p.R942W Substitution - Missense Large_intestine COSM5752096 EZH2 c.2191_2192insGG p.Y731fs*10 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1610313 HDAC5 c.1448C>T p.T483M Substitution - Missense Liver COSM5010052 MYST3 c.1520G>A p.R507H Substitution - Missense Large_intestine COSM722952 SMYD1 c.879C>G p.D293E Substitution - Missense Lung COSM5926702 TDRD7 c.1534C>T p.Q512* Substitution - Nonsense Skin COSM5825499 SRCAP c.7598C>T p.S2533F Substitution - Missense Pancreas COSM357428 ATAD2 c.1958G>C p.R653P Substitution - Missense Lung COSM4779521 SND1 c.2110+1G>A p.? Unknown Liver COSM744881 ING3 c.118G>C p.E40Q Substitution - Missense Lung COSM742769 TDRD6 c.970G>T p.G324* Substitution - Nonsense Lung COSM5516786 BAHCC1 c.7440C>T p.G2480G Substitution - coding silent Biliary_tract COSM4448225 UHRF1 c.2022C>T p.P674P Substitution - coding silent Skin COSM3844852 HDAC6 c.857A>C p.H286P Substitution - Missense Breast COSM4805288 KMT2A c.10244C>T p.P3415L Substitution - Missense Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1241616 PRDM10 c.1721A>T p.H574L Substitution - Missense Oesophagus COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Biliary_tract COSM5713455 NCOA3 c.258delA p.T88fs*26 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1179107 KMT2C c.851G>A p.R284Q Substitution - Missense Soft_tissue COSM907727 ARID1A c.4417C>T p.Q1473* Substitution - Nonsense Endometrium COSM1606136 ARID2 c.2392C>T p.Q798* Substitution - Nonsense Liver COSM3832376 KMT2C c.1076G>C p.C359S Substitution - Missense Breast COSM5418680 TFPT c.90C>G p.P30P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1191142 PRDM4 c.2389_2392delCTTT p.S798fs*>3 Deletion - Frameshift Lung COSM289782 SP140 c.72G>T p.E24D Substitution - Missense Large_intestine COSM1272063 EZH2 c.1922A>T p.E641V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4584652 SETD5_ENST00000402198 c.3882C>G p.L1294L Substitution - coding silent Bone COSM4803347 BAZ1A c.2734G>C p.G912R Substitution - Missense Liver COSM2098512 CHD4 c.2870G>A p.R957Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5761337 PHF16 c.432C>T p.D144D Substitution - coding silent Pancreas COSM4597323 CBX4 c.712A>C p.K238Q Substitution - Missense Upper_aerodigestive_tract COSM1979957 PHF21A c.447G>T p.V149V Substitution - coding silent Upper_aerodigestive_tract COSM1735693 KMT2D c.? p.P808Q Substitution - Missense Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5352966 ASH1L c.7745G>A p.R2582H Substitution - Missense Large_intestine COSM254545 ARID1A c.3590C>G p.S1197C Substitution - Missense Urinary_tract COSM85859 ATRX c.4413_4414insG p.S1472fs*14 Insertion - Frameshift Pancreas COSM5521099 EP400 c.7277C>T p.T2426M Substitution - Missense Biliary_tract COSM4771296 PRDM15 c.3893G>A p.R1298Q Substitution - Missense Pleura COSM1162010 MPHOSPH8 c.2458-2A>T p.? Unknown Kidney COSM1324496 SRCAP c.9398C>A p.T3133N Substitution - Missense Ovary COSM277378 SMARCA2 c.4261C>T p.R1421* Substitution - Nonsense Large_intestine COSM1238426 CARM1 c.1462C>A p.H488N Substitution - Missense Oesophagus COSM4385605 TET2 c.4735_4736insA p.Y1579fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1726507 FXR1 c.692G>A p.G231D Substitution - Missense Liver COSM392352 SP140_ENST00000392045 c.2439delC p.Q815fs*>53 Deletion - Frameshift Lung COSM1027515 ZMYND8 c.2860G>A p.E954K Substitution - Missense Large_intestine COSM2965450 KDM6A c.3588T>C p.N1196N Substitution - coding silent Upper_aerodigestive_tract COSM4952833 BMI1 c.589G>C p.E197Q Substitution - Missense Liver COSM679031 KDM1A c.1399G>T p.E467* Substitution - Nonsense Lung COSM4703375 MSH6 c.734_735insA p.R248fs*8 Insertion - Frameshift Large_intestine COSM110766 TET2 c.4527_4528insA p.Q1510fs*68 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43412 TET2 c.?_?del? p.?fs Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1739940 TDG c.537C>T p.H179H Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1067078 PRDM9 c.1034G>A p.R345Q Substitution - Missense Endometrium COSM1155829 ASXL1 c.2618C>T p.P873L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3467898 RNF17 c.1288T>A p.F430I Substitution - Missense Skin COSM1624814 PSIP1 c.161G>A p.G54E Substitution - Missense Liver COSM3362547 MBD1 c.1506G>A p.K502K Substitution - coding silent Kidney COSM4099102 NCOA3 c.2891G>A p.R964Q Substitution - Missense Stomach COSM5879030 TET2 c.3987delG p.S1330fs*33 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4770348 GTF3C1 c.2923A>T p.M975L Substitution - Missense Adrenal_gland COSM3757070 KDM4B c.1080A>G p.A360A Substitution - coding silent Large_intestine COSM4706988 NIPBL c.6386A>G p.N2129S Substitution - Missense Large_intestine COSM41732 TET2 c.2504C>G p.S835* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM88090 KMT2D c.15691C>T p.R5231* Substitution - Nonsense Central_nervous_system COSM1691144 MBD5 c.1204C>T p.P402S Substitution - Missense Skin COSM3829518 ARID1B c.3106G>A p.G1036R Substitution - Missense Breast COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Bone COSM910295 RAD54L c.381C>T p.S127S Substitution - coding silent Endometrium COSM990439 DNMT1 c.3045A>C p.K1015N Substitution - Missense Endometrium COSM3379658 PHF8 c.3026G>A p.R1009K Substitution - Missense Pancreas COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM22592 MEN1 c.597_597C>GG p.H199fs*19 Complex - frameshift Parathyroid COSM1671343 SMARCA5 c.893A>C p.K298T Substitution - Missense Large_intestine COSM3728338 SUZ12 c.1377delA p.K459fs*29 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4037737 KDM4D c.1256G>A p.R419Q Substitution - Missense Stomach COSM1197567 KDM3A c.1595A>T p.Q532L Substitution - Missense Lung COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4991210 SMARCA4 c.389C>T p.A130V Substitution - Missense Skin COSM3521227 BPTF c.8669G>T p.C2890F Substitution - Missense Skin COSM4004435 STK31 c.1229G>A p.G410E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4623851 MBD3 c.312G>A p.T104T Substitution - coding silent Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM215525 KDM1A c.1207G>A p.E403K Substitution - Missense Central_nervous_system COSM3558879 FMR1 c.1197A>G p.V399V Substitution - coding silent Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1997429 ACTA1 c.998C>A p.A333D Substitution - Missense Large_intestine COSM1180697 PYGO2 c.448delC p.Q150fs*11 Deletion - Frameshift Large_intestine COSM4410607 SETD2 c.3457_3458insGAAG p.V1153fs*11 Insertion - Frameshift Kidney COSM4760700 SIRT4 c.730G>A p.D244N Substitution - Missense Stomach COSM473480 KDM6B c.2635G>T p.A879S Substitution - Missense Biliary_tract COSM5752650 SMARCA4 c.2023C>T p.Q675* Substitution - Nonsense Breast COSM287857 ELP3 c.1620G>A p.P540P Substitution - coding silent Large_intestine COSM908679 ZMYM4 c.2714A>C p.N905T Substitution - Missense Endometrium COSM3440146 SFMBT2 c.1286C>T p.S429F Substitution - Missense Skin COSM23307 HDAC9 c.1344C>A p.P448P Substitution - coding silent Lung COSM1225356 SETD2 c.2456G>A p.R819Q Substitution - Missense Large_intestine COSM21887 SMARCC2 c.2703C>G p.I901M Substitution - Missense Lung COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4419294 KDM4C c.1122G>A p.Q374Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3558101 PHF6 c.888C>T p.A296A Substitution - coding silent Skin COSM2175476 HNF1A c.1108-4G>A p.? Unknown Large_intestine COSM3929619 PRDM14 c.1155G>A p.P385P Substitution - coding silent Central_nervous_system COSM4915563 ASXL1 c.366A>G p.E122E Substitution - coding silent Liver COSM3914252 ATRX c.1727C>T p.S576L Substitution - Missense Skin COSM680962 ZMYM4 c.1471G>T p.G491C Substitution - Missense Lung COSM3745632 KMT2C c.7009T>C p.S2337P Substitution - Missense Liver COSM1067093 PRDM9 c.2379T>A p.S793R Substitution - Missense Endometrium COSM21739 SIRT6 c.23G>A p.G8E Substitution - Missense Skin COSM5945851 IDH1 c.940C>T p.R314C Substitution - Missense Central_nervous_system COSM4880797 SP100 c.156T>A p.I52I Substitution - coding silent Prostate COSM5344272 SMYD1 c.1362C>T p.N454N Substitution - coding silent Large_intestine COSM3710767 KMT2D c.9765G>T p.L3255L Substitution - coding silent Upper_aerodigestive_tract COSM1185515 BRDT c.2543A>T p.K848M Substitution - Missense Lung COSM1690275 DNMT3A c.2054G>A p.G685E Substitution - Missense Skin COSM5354125 SP110 c.1526G>T p.R509M Substitution - Missense Large_intestine COSM3774595 ZBTB38 c.1967G>T p.G656V Substitution - Missense Urinary_tract COSM2154376 PRDM16 c.1110C>A p.D370E Substitution - Missense Kidney COSM5479300 CHD4 c.604A>G p.M202V Substitution - Missense Large_intestine COSM254541 ARID1A c.3634C>T p.Q1212* Substitution - Nonsense Breast COSM3772897 PRMT5 c.658C>T p.R220C Substitution - Missense Pancreas COSM4116754 ZCWPW2 c.127T>C p.L43L Substitution - coding silent Stomach COSM5692181 DAXX c.977A>T p.E326V Substitution - Missense Soft_tissue COSM2270837 MGA c.4350G>A p.L1450L Substitution - coding silent Upper_aerodigestive_tract COSM4540026 MBD6 c.2775G>A p.E925E Substitution - coding silent Skin COSM5944220 DNMT3A c.1998delT p.C666fs*39 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3708081 AIRE c.538+6C>T p.? Unknown Liver COSM1131647 KMT2C c.2755G>C p.V919L Substitution - Missense Soft_tissue COSM216221 ERCC6 c.4211G>A p.R1404H Substitution - Missense Endometrium COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4951087 ARID1A c.2174_2192del19 p.P726fs*10 Deletion - Frameshift Liver COSM5051460 EP400 c.4482C>T p.S1494S Substitution - coding silent Stomach COSM13306 BRD2 c.2141C>T p.P714L Substitution - Missense Central_nervous_system COSM1334447 TDRD10 c.741C>T p.R247R Substitution - coding silent Large_intestine COSM5809936 PRDM1 c.1478T>A p.V493E Substitution - Missense Liver COSM452419 TIF1 c.404C>G p.A135G Substitution - Missense Breast COSM255012 KDM6A c.3582G>A p.W1194* Substitution - Nonsense Kidney COSM88025 SMARCA4 c.2729C>T p.T910M Substitution - Missense Pancreas COSM4954279 TRIM28 c.530G>C p.C177S Substitution - Missense Liver COSM5576313 ARID1A c.5359_5360insAGAT p.A1789fs*14 Insertion - Frameshift Stomach COSM4036088 SUV420H1 c.334C>A p.H112N Substitution - Missense Stomach COSM4598910 AP001011.3_ENST00000320876 c.3145G>T p.A1049S Substitution - Missense Upper_aerodigestive_tract COSM4809262 MYST1 c.415A>T p.T139S Substitution - Missense Pancreas COSM3405266 DIDO1 c.4988C>T p.P1663L Substitution - Missense Central_nervous_system COSM5634054 KMT2C c.11521G>C p.D3841H Substitution - Missense Oesophagus COSM1192753 CBX5 c.317delA p.K106fs*31 Deletion - Frameshift Breast COSM3412549 TRRAP c.9648G>A p.S3216S Substitution - coding silent Central_nervous_system COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1749373 IDH2 c.622G>T p.E208* Substitution - Nonsense Urinary_tract COSM2038970 MTA2 c.1664delG p.G555fs*4 Deletion - Frameshift Large_intestine COSM1324730 BAHCC1 c.5487C>T p.F1829F Substitution - coding silent Ovary COSM4805896 PHIP c.3617T>C p.L1206P Substitution - Missense Liver COSM936042 KDM2B c.1343C>T p.P448L Substitution - Missense Endometrium COSM1583407 SETDB1 c.80A>G p.Q27R Substitution - Missense Endometrium COSM4753458 BRWD1 c.4687C>T p.R1563C Substitution - Missense Large_intestine COSM1226921 SMYD4 c.1108C>T p.L370F Substitution - Missense Large_intestine COSM1609412 CHD9 c.3693A>G p.R1231R Substitution - coding silent Liver COSM1754402 PRDM1 c.137C>G p.S46C Substitution - Missense Urinary_tract COSM251420 ARID1A c.487G>A p.A163T Substitution - Missense Liver COSM1083685 MLL5 c.3420T>C p.N1140N Substitution - coding silent Endometrium COSM5800837 MTA2 c.741G>T p.K247N Substitution - Missense Breast COSM5594881 MGA c.5141G>A p.G1714E Substitution - Missense Skin COSM1679532 KDM6B c.643T>G p.S215A Substitution - Missense Large_intestine COSM5020281 EP300 c.2019T>C p.P673P Substitution - coding silent Soft_tissue COSM312111 KDM3B c.1361G>C p.R454P Substitution - Missense Soft_tissue COSM86971 IKZF1 c.1-?_715+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1476759 BAZ2A_ENST00000379441 c.3068G>A p.R1023Q Substitution - Missense Breast COSM1338726 SMYD2 c.65delG p.A23fs*84 Deletion - Frameshift Large_intestine COSM1297690 KMT2A c.517C>T p.R173* Substitution - Nonsense Urinary_tract COSM3592251 ZCWPW2 c.436C>T p.H146Y Substitution - Missense Skin COSM3992513 HDAC6 c.3288G>A p.R1096R Substitution - coding silent Kidney COSM3998140 HELLS c.231A>C p.I77I Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5207753 SETDB1 c.2613G>C p.E871D Substitution - Missense Breast COSM4928948 BAZ1A c.3831A>C p.K1277N Substitution - Missense Liver COSM4767785 KMT2C c.14631G>A p.Q4877Q Substitution - coding silent Biliary_tract COSM3991700 CHD6 c.7614C>T p.L2538L Substitution - coding silent Kidney COSM1741960 HELLS c.1264G>C p.E422Q Substitution - Missense Urinary_tract COSM4976892 SRCAP c.525G>A p.E175E Substitution - coding silent Oesophagus COSM2894209 ATF2 c.1263C>T p.T421T Substitution - coding silent Large_intestine COSM6008957 ARID2 c.2377C>T p.Q793* Substitution - Nonsense Large_intestine COSM5037935 TDRD5 c.345G>A p.P115P Substitution - coding silent Skin COSM314662 RAD54L c.2147G>A p.R716Q Substitution - Missense Lung COSM4795601 SETD2 c.2238G>A p.L746L Substitution - coding silent Liver COSM3768309 HDAC9 c.1701A>G p.E567E Substitution - coding silent Liver COSM1180918 ASXL1 c.1927delG p.G645fs*58 Deletion - Frameshift Biliary_tract COSM5505586 PHF21B c.268C>T p.R90W Substitution - Missense Biliary_tract COSM146934 ERCC6 c.2751C>T p.G917G Substitution - coding silent Pancreas COSM5685997 PHF12 c.846T>C p.R282R Substitution - coding silent Soft_tissue COSM4170754 CREBBP c.4451T>C p.F1484S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4972143 PRDM4 c.1147G>A p.A383T Substitution - Missense Thyroid COSM335156 MBD5 c.842A>G p.H281R Substitution - Missense Large_intestine COSM4072471 CXXC1 c.1291G>A p.E431K Substitution - Missense Large_intestine COSM4437080 UHRF2 c.335C>G p.S112C Substitution - Missense Oesophagus COSM3789928 ZMYM1 c.2283A>C p.V761V Substitution - coding silent Urinary_tract COSM3968058 SETD8 c.233A>G p.H78R Substitution - Missense Central_nervous_system COSM1716709 ATRX c.5104_5107delGAAA p.E1702fs*22 Deletion - Frameshift Central_nervous_system COSM5600613 TAF1L c.1792G>A p.G598S Substitution - Missense Skin COSM3460966 ARID2 c.1787T>A p.V596E Substitution - Missense Skin COSM4572619 EP400 c.8108T>C p.V2703A Substitution - Missense Skin COSM4435756 PHF20 c.2809C>T p.Q937* Substitution - Nonsense Oesophagus COSM4147007 PRMT8 c.196A>T p.N66Y Substitution - Missense Thyroid COSM4641649 EP400 c.4983C>T p.G1661G Substitution - coding silent Large_intestine COSM2965342 KDM6A c.1592C>T p.S531L Substitution - Missense Cervix COSM3578901 SP140_ENST00000392045 c.1478G>A p.G493E Substitution - Missense Skin COSM3660320 MECOM c.1613C>T p.S538L Substitution - Missense Liver COSM3490292 RAD54L c.489C>T p.F163F Substitution - coding silent Skin COSM1667315 EYA3 c.274G>C p.G92R Substitution - Missense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5929418 KMT2D c.2855C>T p.P952L Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1041040 PHC3 c.1324T>C p.S442P Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4766112 TET2 c.3501-2A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM308640 BRD8 c.532_533insC p.R178fs*20 Insertion - Frameshift Soft_tissue COSM3357344 EP300 c.4399T>G p.Y1467D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53311 IDH2 c.? p.R140W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1238319 BRD8 c.2405G>A p.R802Q Substitution - Missense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4643940 CHD2 c.3803G>A p.R1268H Substitution - Missense Large_intestine COSM5821924 PCNA c.244G>T p.A82S Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM223380 ZMYND11 c.307C>T p.P103S Substitution - Missense Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3804985 PRDM16 c.2790C>G p.F930L Substitution - Missense Breast COSM1245827 ATRX c.4727G>T p.C1576F Substitution - Missense Oesophagus COSM23059 MEN1 c.? p.? Unknown Pancreas COSM5456334 ARID2 c.2255A>G p.Q752R Substitution - Missense Large_intestine COSM3819664 EZH1 c.1257A>C p.P419P Substitution - coding silent Breast COSM1616490 L3MBTL2 c.262+10G>T p.? Unknown Liver COSM3811269 KDM2B c.196G>A p.E66K Substitution - Missense Breast COSM4526087 MTF2 c.1371G>T p.T457T Substitution - coding silent Skin COSM3740446 EP300 c.6788G>A p.R2263Q Substitution - Missense Liver COSM3356828 CREBBP c.4463C>T p.P1488L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4586097 CHD1 c.396C>T p.S132S Substitution - coding silent Large_intestine COSM302137 EP400 c.8181A>G p.Q2727Q Substitution - coding silent Endometrium COSM4448888 KMT2D c.13283delA p.D4428fs*99 Deletion - Frameshift Skin COSM1245454 ARID2 c.1624C>T p.R542* Substitution - Nonsense Skin COSM2820607 AIRE c.680G>A p.G227D Substitution - Missense Large_intestine COSM302137 EP400 c.8181A>G p.Q2727Q Substitution - coding silent Large_intestine COSM4824099 KMT2C c.6658C>T p.Q2220* Substitution - Nonsense Breast COSM1327208 EP300 c.1906A>G p.K636E Substitution - Missense Ovary COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Ovary COSM5911055 CHD6 c.1487C>T p.S496F Substitution - Missense Skin COSM6003256 SMCHD1 c.3384T>C p.P1128P Substitution - coding silent Prostate COSM1608863 CHD2 c.4835A>G p.H1612R Substitution - Missense Liver COSM32829 EZH2 c.1381_1382insTA p.R461fs*3 Insertion - Frameshift Large_intestine COSM2001148 EP400 c.7798G>A p.V2600M Substitution - Missense Prostate COSM1716567 BAP1 c.1965_1966delGA p.K656fs*7 Deletion - Frameshift Pleura COSM5916292 SMARCC2 c.2066C>T p.A689V Substitution - Missense Skin COSM1476853 CHD4 c.100+1G>A p.? Unknown Breast COSM3656880 TAF1L c.395C>T p.P132L Substitution - Missense Skin COSM1045491 SETD2 c.1171A>G p.S391G Substitution - Missense Endometrium COSM196632 SIRT7 c.1042C>T p.R348C Substitution - Missense Endometrium COSM30359 KMT2D c.7556G>A p.R2519Q Substitution - Missense Kidney COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM27950 SMARCB1 c.585_586ins17 p.D196fs*19 Insertion - Frameshift Central_nervous_system COSM43434 TET2 c.3112_3121del10 p.K1038fs*14 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM97033 ASXL1 c.2118_2119delTA p.T707fs*10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM221120 KMT2D c.14465G>A p.C4822Y Substitution - Missense Oesophagus COSM148423 SETBP1 c.3301G>A p.V1101I Substitution - Missense Soft_tissue COSM172621 ASH1L c.6436C>T p.R2146* Substitution - Nonsense Large_intestine COSM184236 ARID1A c.2077C>T p.R693* Substitution - Nonsense Stomach COSM218274 ERCC6 c.2204G>A p.R735Q Substitution - Missense Pancreas COSM214001 MSH6 c.1855G>T p.E619* Substitution - Nonsense Breast COSM223122 NCOA7 c.1333G>A p.E445K Substitution - Missense Skin COSM235291 RNF17 c.1884G>A p.P628P Substitution - coding silent Skin COSM225883 KMT2C c.2968A>G p.S990G Substitution - Missense Soft_tissue COSM240234 INO80C c.371A>C p.D124A Substitution - Missense Prostate COSM266084 BAZ1B c.1734G>A p.K578K Substitution - coding silent Large_intestine COSM252982 CREBBP c.3370-5_3370-4delTT p.? Unknown Ovary COSM272358 ASH1L c.8258C>T p.T2753I Substitution - Missense Large_intestine COSM301583 KDM5D c.2302C>T p.R768* Substitution - Nonsense Large_intestine COSM296466 CHD8 c.7496C>A p.P2499H Substitution - Missense Small_intestine COSM303247 SMARCA4 c.3574C>T p.R1192C Substitution - Missense Central_nervous_system COSM308122 PRDM4 c.1117T>C p.F373L Substitution - Missense Biliary_tract COSM356100 HDAC4 c.876C>G p.C292W Substitution - Missense Lung COSM365310 PRDM9 c.669A>T p.T223T Substitution - coding silent Lung COSM384861 SET c.630T>A p.D210E Substitution - Missense Lung COSM396496 MTF2 c.515C>G p.A172G Substitution - Missense Lung COSM391173 DNMT3A c.1342_1343insT p.Y448fs*25 Insertion - Frameshift Lung COSM692228 EP400 c.3373C>T p.R1125C Substitution - Missense Lung COSM685283 TAF3 c.45G>T p.A15A Substitution - coding silent Lung COSM1023490 KDM3A c.561C>A p.D187E Substitution - Missense Endometrium COSM1023556 SMYD1 c.1055G>A p.R352Q Substitution - Missense Endometrium COSM1030701 BRWD1 c.2818G>T p.E940* Substitution - Nonsense Endometrium COSM1021301 MSH6 c.3303G>T p.K1101N Substitution - Missense Large_intestine COSM704849 RAI1 c.5198C>T p.S1733L Substitution - Missense Lung COSM716472 MBD5 c.2749A>G p.S917G Substitution - Missense Lung COSM738277 PRDM9 c.1542G>T p.V514V Substitution - coding silent Soft_tissue COSM731077 PBRM1 c.2966-1G>A p.? Unknown Lung COSM1067719 NIPBL c.7156G>A p.E2386K Substitution - Missense Endometrium COSM961526 MGA c.6556G>T p.E2186* Substitution - Nonsense Endometrium COSM1109523 UHRF2 c.191G>A p.G64E Substitution - Missense Endometrium COSM1121691 PHF16 c.657C>A p.F219L Substitution - Missense Endometrium COSM1125807 BRWD3 c.4801T>G p.L1601V Substitution - Missense Endometrium COSM1113729 MSL3 c.1494C>A p.F498L Substitution - Missense Endometrium COSM1116480 FMR1 c.1883T>C p.V628A Substitution - Missense Endometrium COSM1137062 BAP1 c.466C>T p.Q156* Substitution - Nonsense Kidney COSM1095758 ATAD2 c.2219C>A p.S740Y Substitution - Missense Endometrium COSM1235018 EZH2 c.1991A>G p.D664G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1240269 SND1 c.2680C>T p.R894C Substitution - Missense Stomach COSM1181748 ACTR8 c.11C>G p.A4G Substitution - Missense Large_intestine COSM1181717 ACTL6B c.742C>T p.H248Y Substitution - Missense Large_intestine COSM1257402 MBD5 c.3605_3606insC p.R1204fs*22 Insertion - Frameshift Oesophagus COSM1177177 EZH1 c.2056C>T p.R686* Substitution - Nonsense Endometrium COSM1315856 EZH2 c.1642_1643insT p.C548fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1293705 AP001011.3_ENST00000320876 c.5214G>A p.A1738A Substitution - coding silent Stomach COSM1270985 ZMYM1 c.2932A>C p.N978H Substitution - Missense Oesophagus COSM1334327 GATAD2B c.91C>T p.R31* Substitution - Nonsense Large_intestine COSM1318845 ASXL1 c.2756_2757insACCA p.S921fs*4 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1390030 DNMT1 c.957A>G p.E319E Substitution - coding silent Large_intestine COSM1378949 CTCF c.872A>G p.E291G Substitution - Missense Pancreas COSM1443800 PHF1 c.10delC p.R6fs*2 Deletion - Frameshift Large_intestine COSM1449460 KMT2C c.2182G>T p.E728* Substitution - Nonsense Upper_aerodigestive_tract COSM1353847 PRDM11 c.409G>A p.V137M Substitution - Missense Large_intestine COSM1620720 PRDM1 c.661G>T p.D221Y Substitution - Missense Liver COSM1578603 KMT2D c.1244A>C p.E415A Substitution - Missense Meninges COSM1623571 ATAD2 c.2587C>A p.H863N Substitution - Missense Liver COSM1639851 ZMYM6 c.3835delT p.S1279fs*13 Deletion - Frameshift Stomach COSM1716414 CTCF c.610_611insA p.T204fs*26 Insertion - Frameshift Endometrium COSM1724163 NSD1 c.5628C>T p.N1876N Substitution - coding silent Skin COSM1753425 MINA c.341A>T p.N114I Substitution - Missense Urinary_tract COSM1732167 KDM6A c.113delC p.S40fs*2 Deletion - Frameshift Kidney COSM1754203 NSD1 c.7503G>A p.P2501P Substitution - coding silent Urinary_tract COSM42037 TET2 c.4210C>T p.R1404* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM2157529 EPC1 c.1756G>T p.E586* Substitution - Nonsense Central_nervous_system COSM2178790 TTF2 c.869C>T p.A290V Substitution - Missense Large_intestine COSM2209152 TDRD10 c.889A>G p.S297G Substitution - Missense Large_intestine COSM2759371 PHF20 c.2439C>T p.N813N Substitution - coding silent Stomach COSM2797788 BPTF c.5053C>T p.R1685* Substitution - Nonsense Large_intestine COSM2866915 TRRAP c.11301C>T p.A3767A Substitution - coding silent Skin COSM2866740 TRRAP c.7349G>T p.R2450L Substitution - Missense Large_intestine COSM3021600 JARID2 c.89G>T p.R30L Substitution - Missense Liver COSM3259667 EZH2 c.885C>T p.F295F Substitution - coding silent Skin COSM3357258 NCOA3 c.841G>T p.D281Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3418039 POGZ c.934G>A p.E312K Substitution - Missense Large_intestine COSM3426737 KDM3A c.2154G>A p.E718E Substitution - coding silent Large_intestine COSM3461619 KMT2D c.1817C>T p.S606F Substitution - Missense Skin COSM3636531 KMT2C c.2368G>A p.D790N Substitution - Missense Skin COSM3620796 EYA4 c.648G>A p.Q216Q Substitution - coding silent Skin COSM3608879 BRD8 c.2997G>A p.E999E Substitution - coding silent Skin COSM3594808 DHX30 c.1269G>C p.R423R Substitution - coding silent Skin COSM3555665 HDAC10 c.1324G>A p.E442K Substitution - Missense Skin COSM3555530 BRD1 c.3092C>T p.A1031V Substitution - Missense Skin COSM3517616 KAT2A c.1083C>T p.S361S Substitution - coding silent Skin COSM3526243 CXXC1 c.307C>T p.R103W Substitution - Missense Skin COSM3656608 SMARCA2 c.4173C>T p.I1391I Substitution - coding silent Skin COSM3664723 ZMYM6 c.168G>C p.E56D Substitution - Missense Breast COSM3696204 SFMBT1 c.1705G>A p.G569R Substitution - Missense Large_intestine COSM3704483 ARID1A c.2899A>G p.M967V Substitution - Missense Liver COSM3710007 KMT2A c.4965G>A p.R1655R Substitution - coding silent Skin COSM3736917 NIPBL c.2021A>G p.N674S Substitution - Missense Skin COSM3749092 PWWP2B c.1062G>C p.V354V Substitution - coding silent Large_intestine COSM3755299 SMYD4 c.392G>T p.R131I Substitution - Missense Liver COSM3790061 KDM4A c.3100G>A p.E1034K Substitution - Missense Urinary_tract COSM3934124 ASH1L c.2818G>C p.D940H Substitution - Missense Oesophagus COSM3936469 CHD8 c.292C>T p.Q98* Substitution - Nonsense Oesophagus COSM3845412 ATRX c.1805G>A p.G602D Substitution - Missense Breast COSM3912955 PHF21B c.648C>T p.P216P Substitution - coding silent Skin COSM3900233 MYST3 c.5742G>A p.M1914I Substitution - Missense Stomach COSM3963953 SETD4 c.362G>T p.G121V Substitution - Missense Lung COSM3974419 SETMAR c.1310A>G p.N437S Substitution - Missense Central_nervous_system COSM3953145 HCFC1 c.2480T>C p.I827T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4006185 ARID1B c.5316G>A p.K1772K Substitution - coding silent Urinary_tract COSM3985128 ORC1 c.1866C>T p.L622L Substitution - coding silent Kidney COSM4161727 PHF14 c.456A>C p.T152T Substitution - coding silent Oesophagus COSM4590394 GABRG1 c.494A>T p.N165I Substitution - Missense Upper_aerodigestive_tract COSM4516858 EP300 c.2403_2404CC>TT p.P802S Substitution - Missense Skin COSM4685169 FMR1 c.602G>T p.R201I Substitution - Missense Large_intestine COSM4680484 EHMT1 c.1077+2T>C p.? Unknown Large_intestine COSM4775141 PHF6 c.93_94insC p.L32fs*4 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4791132 JMJD5 c.1042G>A p.A348T Substitution - Missense Liver COSM4884883 TRRAP c.9885G>A p.Q3295Q Substitution - coding silent Upper_aerodigestive_tract COSM5029886 MORF4L2 c.179G>C p.G60A Substitution - Missense Bone COSM5017859 EP400 c.8734delC p.P2912fs*20 Deletion - Frameshift Soft_tissue COSM5094929 NIPBL c.6187G>C p.E2063Q Substitution - Missense Thymus COSM5043662 EP400 c.5951+7G>A p.? Unknown Liver COSM5471530 ING5 c.210C>T p.N70N Substitution - coding silent Large_intestine COSM5434727 PRDM9 c.372C>T p.F124F Substitution - coding silent Skin COSM5434120 BRWD1 c.5269G>A p.E1757K Substitution - Missense Oesophagus COSM5642403 SP140_ENST00000392045 c.30G>T p.M10I Substitution - Missense Oesophagus COSM5631506 NCOA3 c.1760C>T p.S587L Substitution - Missense Oesophagus COSM5756751 EYA4 c.91G>C p.E31Q Substitution - Missense Large_intestine COSM5720373 KDM3B c.3621C>T p.A1207A Substitution - coding silent Skin COSM5722154 ING1 c.141C>T p.I47I Substitution - coding silent Skin COSM5725863 SETMAR c.341C>T p.P114L Substitution - Missense Skin COSM5577753 SMARCA1 c.538G>A p.G180R Substitution - Missense Skin COSM5781383 FMR1 c.434C>A p.A145E Substitution - Missense Breast COSM5789075 CHD4 c.3840C>G p.F1280L Substitution - Missense Breast COSM5799457 HDAC6 c.807-1G>T p.? Unknown Breast COSM5817786 ATF7IP c.879T>A p.S293S Substitution - coding silent Liver COSM5915745 TRRAP c.9682-8C>T p.? Unknown Skin COSM5922042 KDM4A c.1555G>A p.D519N Substitution - Missense Skin COSM5888162 HDAC7 c.1234G>A p.D412N Substitution - Missense Upper_aerodigestive_tract COSM5976077 PHF3 c.501T>G p.S167S Substitution - coding silent Upper_aerodigestive_tract COSM5352298 EP300 c.? p.R838C Substitution - Missense Endometrium COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4167250 TET2 c.? p.S890A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53046 TET2 c.? p.Q1627fs*33 Frameshift Haematopoietic_and_lymphoid_tissue COSM97048 IDH2 c.? p.R140? Unknown Haematopoietic_and_lymphoid_tissue COSM4172516 KDM6A c.? p.T581A Substitution - Missense Skin COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM3563683 BRWD3 c.2418T>A p.N806K Substitution - Missense Large_intestine COSM1309526 BRPF1 c.1981G>A p.E661K Substitution - Missense Urinary_tract COSM88486 KMT2C c.4432C>T p.Q1478* Substitution - Nonsense Ovary COSM3799547 CHD6 c.5686C>A p.P1896T Substitution - Missense Urinary_tract COSM946212 RNF17 c.1899T>C p.S633S Substitution - coding silent Endometrium COSM3712821 BRD4 c.1400C>A p.A467D Substitution - Missense Upper_aerodigestive_tract COSM1192095 ARID1A c.3292C>T p.Q1098* Substitution - Nonsense Pancreas COSM907680 ARID1A c.1213C>T p.Q405* Substitution - Nonsense Endometrium COSM3727849 TRIM66 c.1888C>G p.L630V Substitution - Missense Upper_aerodigestive_tract COSM364706 PRDM1 c.1106C>T p.S369L Substitution - Missense Lung COSM1299427 KMT2D c.12600G>C p.K4200N Substitution - Missense Urinary_tract COSM4100182 DIDO1 c.4521C>T p.V1507V Substitution - coding silent Stomach COSM4410138 MTF2 c.239T>G p.F80C Substitution - Missense Oesophagus COSM5847801 CHD8 c.4418G>A p.R1473H Substitution - Missense Prostate COSM3160305 PHF3 c.3783A>G p.I1261M Substitution - Missense Liver COSM4414091 TDRD1 c.1165G>A p.G389R Substitution - Missense Kidney COSM3992243 HDAC10 c.1678T>C p.L560L Substitution - coding silent Kidney COSM247045 RING1 c.313G>A p.A105T Substitution - Missense Prostate COSM947874 SETDB2 c.1185T>G p.I395M Substitution - Missense Endometrium COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Upper_aerodigestive_tract COSM234029 KDM6A c.443+6T>C p.? Unknown Skin COSM1496182 SHPRH c.4485T>C p.F1495F Substitution - coding silent Kidney COSM3854573 PRDM9 c.1586G>A p.C529Y Substitution - Missense Stomach COSM5770708 PRDM8 c.898C>T p.L300L Substitution - coding silent Breast COSM1058050 PRDM8 c.134T>C p.V45A Substitution - Missense Endometrium COSM2805055 BAHCC1 c.7799C>T p.T2600M Substitution - Missense Large_intestine COSM5363485 GTF3C1 c.982G>A p.V328I Substitution - Missense Large_intestine COSM4561317 ACTL6B c.87G>A p.G29G Substitution - coding silent Skin COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Central_nervous_system COSM3855031 NIPBL c.5164A>G p.N1722D Substitution - Missense Stomach COSM21712 CREBBP c.2809C>T p.P937S Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Prostate COSM244219 EHMT1 c.2102C>T p.P701L Substitution - Missense Prostate COSM1196307 DOT1L c.493G>T p.G165C Substitution - Missense Lung COSM717295 BAZ2B c.107C>G p.T36S Substitution - Missense Lung COSM3724488 SMARCA4 c.3896_3907del12 p.E1300_N1303del Deletion - In frame Ovary COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Skin COSM4480631 DOT1L c.2438C>T p.P813L Substitution - Missense Skin COSM5779817 MPHOSPH8 c.408T>A p.S136S Substitution - coding silent Breast COSM1076380 KDM1B c.640G>A p.V214I Substitution - Missense Endometrium COSM5950218 SP100 c.48T>A p.C16* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3517984 HDAC5 c.3007G>A p.E1003K Substitution - Missense Skin COSM21306 TRRAP c.5741C>T p.P1914L Substitution - Missense Large_intestine COSM393043 TRRAP c.7324G>A p.E2442K Substitution - Missense Lung COSM5512395 BAZ1B c.4408C>T p.P1470S Substitution - Missense Biliary_tract COSM3630866 ACTL6B c.594C>T p.F198F Substitution - coding silent Skin COSM235015 MYST3 c.2193C>T p.L731L Substitution - coding silent Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4798437 RAI1 c.1892G>A p.S631N Substitution - Missense Liver COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM478586 BRWD1 c.6375A>C p.E2125D Substitution - Missense Kidney COSM4411275 KDM1B c.1282G>C p.E428Q Substitution - Missense Kidney COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM675760 ASH1L c.7655T>C p.I2552T Substitution - Missense Lung COSM5419116 BRD4 c.2141G>A p.S714N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5367542 LBR c.261_262insC p.G88fs*5 Insertion - Frameshift Large_intestine COSM380731 HCFC1 c.2609G>A p.S870N Substitution - Missense Lung COSM1107421 PSIP1 c.456+1G>T p.? Unknown Endometrium COSM4436287 DOT1L c.2849C>T p.A950V Substitution - Missense Oesophagus COSM4580170 JMJD6 c.96C>T p.Y32Y Substitution - coding silent Bone COSM4049923 PRMT5 c.1209C>T p.N403N Substitution - coding silent Stomach COSM753626 TAF1L c.27G>A p.L9L Substitution - coding silent Lung COSM3803004 TDRD5 c.851C>T p.S284L Substitution - Missense Breast COSM22617 MEN1 c.484_485GT>TG p.V162C Substitution - Missense Pancreas COSM4387350 PHF8 c.1531A>G p.S511G Substitution - Missense Lung COSM910652 ORC1 c.1429C>T p.R477* Substitution - Nonsense Endometrium COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM150428 KMT2C c.2958A>G p.P986P Substitution - coding silent Soft_tissue COSM371600 RERE c.522G>T p.G174G Substitution - coding silent Lung COSM3809646 GLYATL1 c.426T>G p.G142G Substitution - coding silent Breast COSM4910220 ARID1A c.3002C>G p.S1001C Substitution - Missense Liver COSM3752793 TRIM66 c.838T>C p.Y280H Substitution - Missense Large_intestine COSM3366361 ARID1B c.3345C>G p.T1115T Substitution - coding silent Kidney COSM4748955 CREBBP c.3722T>A p.F1241Y Substitution - Missense Stomach COSM3717734 CBX8 c.431C>T p.A144V Substitution - Missense Liver COSM1088175 HDAC9 c.1476G>A p.S492S Substitution - coding silent Endometrium COSM5716624 ZCWPW1 c.481G>A p.E161K Substitution - Missense Skin COSM2006587 KMT2D c.15365G>A p.R5122H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6007872 BAZ2A_ENST00000379441 c.5671G>A p.E1891K Substitution - Missense Prostate COSM1021293 MSH6 c.3083C>T p.S1028L Substitution - Missense Endometrium COSM255059 KMT2C c.4019delG p.S1340fs*5 Deletion - Frameshift Urinary_tract COSM1641364 ZMYND8 c.1964delA p.K655fs*14 Deletion - Frameshift Stomach COSM1753989 BRD8 c.671C>T p.S224F Substitution - Missense Liver COSM1027515 ZMYND8 c.2860G>A p.E954K Substitution - Missense Breast COSM4655887 DHX30 c.3101A>T p.K1034M Substitution - Missense Large_intestine COSM179737 SFMBT2 c.1981T>C p.Y661H Substitution - Missense Oesophagus COSM4777717 KMT2A c.6399_6400insC p.C2134fs*41 Insertion - Frameshift Prostate COSM1216859 NCOA3 c.580A>C p.T194P Substitution - Missense Large_intestine COSM2909158 HDAC4 c.1041A>C p.T347T Substitution - coding silent Large_intestine COSM4944039 TBL1XR1 c.47_47delT p.L16fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5019633 KMT2D c.15168T>G p.L5056L Substitution - coding silent Soft_tissue COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5375337 SMARCD1 c.65C>T p.P22L Substitution - Missense Skin COSM1666681 EP300 c.1019A>T p.Q340L Substitution - Missense Salivary_gland COSM5017513 GTF3C4 c.1685delA p.K564fs*18 Deletion - Frameshift Soft_tissue COSM1220355 PHF2 c.1477A>G p.T493A Substitution - Missense Stomach COSM261645 KIAA2026_ENST00000399933 c.5643T>C p.S1881S Substitution - coding silent Large_intestine COSM5607838 ARID1A c.4951C>T p.P1651S Substitution - Missense Skin COSM465865 SIRT1 c.876T>A p.D292E Substitution - Missense Kidney COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3508380 CCDC101 c.53A>T p.H18L Substitution - Missense Skin COSM4610965 ALKBH1 c.795delC p.T266fs*11 Deletion - Frameshift Large_intestine COSM5015072 CHD4 c.845A>G p.D282G Substitution - Missense Kidney COSM317051 BRD9 c.1450C>T p.H484Y Substitution - Missense Lung COSM3705807 ZMYM1 c.3232A>G p.I1078V Substitution - Missense Liver COSM941738 BAZ2A_ENST00000379441 c.4242C>A p.F1414L Substitution - Missense Large_intestine COSM5471918 PRDM8 c.1103G>A p.G368D Substitution - Missense Large_intestine COSM4324744 SMARCC1 c.1298G>C p.R433P Substitution - Missense Upper_aerodigestive_tract COSM691223 EED c.1116C>A p.F372L Substitution - Missense Lung COSM1672938 ARID1B c.4816C>T p.R1606* Substitution - Nonsense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4416780 KDM6B c.1782C>A p.P594P Substitution - coding silent Soft_tissue COSM97049 IDH1 c.347A>G p.N116S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM224082 PRDM15 c.1010C>T p.S337F Substitution - Missense Skin COSM3943447 SMYD2 c.265G>T p.E89* Substitution - Nonsense Ovary COSM1045493 SETD2 c.1085A>G p.N362S Substitution - Missense Endometrium COSM1447273 PHF14 c.941delA p.M316fs*5 Deletion - Frameshift Large_intestine COSM5364059 RAI1 c.942C>T p.Y314Y Substitution - coding silent Large_intestine COSM287857 ELP3 c.1620G>A p.P540P Substitution - coding silent Liver COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM5972493 BAHCC1 c.3691G>A p.E1231K Substitution - Missense Upper_aerodigestive_tract COSM4573327 RNF134 c.379G>A p.E127K Substitution - Missense Bone COSM35408 KAT6B c.3291A>G p.E1097E Substitution - coding silent Endometrium COSM1361285 PRMT8 c.867G>A p.S289S Substitution - coding silent Large_intestine COSM51200 ASXL1 c.1888_1910del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4384332 KMT2C c.5444G>T p.G1815V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5752042 CTCF c.1210_1211insT p.E404fs*5 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM97137 PRDM1 c.183G>C p.E61fs Unknown Haematopoietic_and_lymphoid_tissue COSM285447 SUV420H1 c.909T>G p.I303M Substitution - Missense Large_intestine COSM5458348 EP400 c.4539C>A p.A1513A Substitution - coding silent Large_intestine COSM4156447 HDAC10 c.460G>A p.A154T Substitution - Missense Thyroid COSM3451770 DPF2 c.406C>T p.P136S Substitution - Missense Skin COSM1196121 DOT1L c.3031C>T p.R1011W Substitution - Missense Lung COSM1714422 L3MBTL2 c.4G>A p.E2K Substitution - Missense Skin COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5028113 GTF3C1 c.4045G>T p.D1349Y Substitution - Missense Breast COSM1550016 ACTB c.1000G>A p.E334K Substitution - Missense Skin COSM1745417 MBD6 c.69_75delCGGCTGG p.G24fs*57 Deletion - Frameshift Urinary_tract COSM703466 CHD9 c.5378A>T p.Q1793L Substitution - Missense Lung COSM4092825 ATAD2B_ENST00000238789 c.241A>C p.S81R Substitution - Missense Stomach COSM5441323 NCOA5 c.350G>A p.R117Q Substitution - Missense Pancreas COSM929716 MTA2 c.1782G>A p.Q594Q Substitution - coding silent Endometrium COSM3894920 MBD5 c.4320C>T p.V1440V Substitution - coding silent Skin COSM88784 EP300 c.4879C>T p.R1627W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1319282 KDM3B c.2813G>A p.R938H Substitution - Missense Stomach COSM1678293 MTA1 c.909T>A p.Y303* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM466085 BTAF1 c.5038A>G p.S1680G Substitution - Missense Kidney COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1445549 PHF3 c.1589G>A p.R530Q Substitution - Missense Large_intestine COSM939506 ARID2 c.2969C>T p.S990L Substitution - Missense Endometrium COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4590859 SRCAP c.394C>T p.R132C Substitution - Missense Upper_aerodigestive_tract COSM913233 BRDT c.1108G>A p.E370K Substitution - Missense Endometrium COSM4889600 KDM6A c.1779A>T p.I593I Substitution - coding silent Upper_aerodigestive_tract COSM4586941 PHIP c.4639A>C p.N1547H Substitution - Missense Bone COSM5998626 UHRF2 c.567G>T p.L189F Substitution - Missense Prostate COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5416103 NIPBL c.5921T>G p.L1974R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5966713 ARID1B c.1021_1046del26 p.A341fs*127 Deletion - Frameshift Adrenal_gland COSM96453 CREBBP c.? p.C1408Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3817825 SRCAP c.6198C>T p.T2066T Substitution - coding silent Breast COSM1045485 SETD2 c.1958G>A p.R653H Substitution - Missense Endometrium COSM3528423 SMARCA4 c.2301C>T p.S767S Substitution - coding silent Skin COSM4002747 PBRM1 c.3597A>T p.P1199P Substitution - coding silent Soft_tissue COSM1226792 SMARCD2 c.956T>C p.M319T Substitution - Missense Large_intestine COSM5721820 KMT2A c.11236C>T p.R3746C Substitution - Missense Skin COSM5751591 KDM6A c.3331_3332insG p.V1112fs*39 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3811510 EP400 c.5772C>A p.F1924L Substitution - Missense Breast COSM213215 MBD5 c.3843G>C p.E1281D Substitution - Missense Breast COSM1197630 TRRAP c.3621G>C p.K1207N Substitution - Missense Lung COSM4515128 PRMT7 c.999C>T p.L333L Substitution - coding silent Skin COSM1640477 CREBBP c.3468C>T p.D1156D Substitution - coding silent Stomach COSM3451013 MTA2 c.457T>C p.Y153H Substitution - Missense Skin COSM470687 TP53BP1 c.632A>G p.D211G Substitution - Missense Kidney COSM4637170 JHDM1D c.1065T>C p.A355A Substitution - coding silent Large_intestine COSM1230627 TRRAP c.8276C>T p.A2759V Substitution - Missense Large_intestine COSM4692519 INOC1 c.3635G>T p.R1212L Substitution - Missense Large_intestine COSM920542 KAT6B c.6203G>A p.G2068D Substitution - Missense Endometrium COSM3780907 SETD1B c.579T>C p.L193L Substitution - coding silent Pancreas COSM5723576 KDM3A c.436C>T p.L146F Substitution - Missense Skin COSM4383899 TET2 c.3315_3316delAG p.E1106fs*23 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4664638 ATRX c.728G>A p.C243Y Substitution - Missense Large_intestine COSM5562115 INO80B c.867C>T p.P289P Substitution - coding silent Prostate COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM969955 SRCAP c.9676C>T p.R3226C Substitution - Missense Endometrium COSM305319 KDM6A c.618_619+2delAAGT p.? Unknown Breast COSM5675952 PHF21A c.1095+2T>A p.? Unknown Soft_tissue COSM387864 KMT2C c.6404C>T p.P2135L Substitution - Missense Lung COSM4052630 ALKBH1 c.797C>T p.T266M Substitution - Missense Stomach COSM4442032 EZH1 c.1473G>T p.Q491H Substitution - Missense Large_intestine COSM3113035 SRCAP c.8463C>T p.P2821P Substitution - coding silent Skin COSM5232989 KMT2D c.6116C>A p.S2039* Substitution - Nonsense Lung COSM1700046 MYST3 c.4592C>T p.P1531L Substitution - Missense Skin COSM76666 TAF1 c.4248C>G p.D1416E Substitution - Missense Ovary COSM4767423 ARID1B c.5356G>C p.D1786H Substitution - Missense Biliary_tract COSM24615 SMARCB1 c.202_203insG p.H68fs*3 Insertion - Frameshift Soft_tissue COSM4098977 NCOA5 c.244C>T p.R82W Substitution - Missense Stomach COSM1211252 JARID2 c.2197C>T p.R733C Substitution - Missense Stomach COSM4095561 SMYD5 c.867G>T p.E289D Substitution - Missense Stomach COSM1442326 PHF10 c.245G>A p.R82H Substitution - Missense Large_intestine COSM5698700 ATRX c.2217A>G p.K739K Substitution - coding silent Soft_tissue COSM5616121 TAF1L c.258G>C p.L86F Substitution - Missense Lung COSM4908452 TBL1XR1 c.108G>C p.Q36H Substitution - Missense Kidney COSM3637544 STK31 c.1610C>T p.S537F Substitution - Missense Skin COSM4000327 CBX4 c.871T>C p.S291P Substitution - Missense Upper_aerodigestive_tract COSM96347 ASXL1 c.? p.G646fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM4994130 NIPBL c.5071G>T p.A1691S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1049790 INTS12 c.272A>G p.K91R Substitution - Missense Endometrium COSM3126247 SMARCA5 c.371G>A p.R124H Substitution - Missense Large_intestine COSM1357982 KDM4D c.271delA p.K93fs*4 Deletion - Frameshift Large_intestine COSM3667191 MBD6 c.830A>G p.N277S Substitution - Missense Liver COSM5918320 ZCWPW2 c.619G>A p.E207K Substitution - Missense Skin COSM87002 DNMT3A c.1627G>T p.G543C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3153169 EP300 c.4402delA p.M1470fs*26 Deletion - Frameshift Large_intestine COSM1129094 MORF4L1 c.218T>C p.L73P Substitution - Missense Prostate COSM97131 IDH1 c.532G>A p.V178I Substitution - Missense Thyroid COSM4061190 CHD9 c.808T>A p.F270I Substitution - Missense Stomach COSM3673102 NCOA6 c.2741C>A p.P914Q Substitution - Missense Prostate COSM484633 PHF14 c.1886G>C p.R629P Substitution - Missense Kidney COSM3968552 ZMYM2 c.2801T>C p.I934T Substitution - Missense Central_nervous_system COSM726947 TCF20 c.3733C>A p.H1245N Substitution - Missense Lung COSM4705973 NCOA6 c.3438C>G p.G1146G Substitution - coding silent Large_intestine COSM956529 ARID4A c.1483G>T p.D495Y Substitution - Missense Cervix COSM3732683 ARID1A c.5303T>C p.L1768P Substitution - Missense Stomach COSM5025117 KMT2C c.1736-3C>A p.? Unknown Breast COSM4681097 EP400 c.283delC p.P95fs*83 Deletion - Frameshift Large_intestine COSM21471 HNF1A c.617G>T p.W206L Substitution - Missense Liver COSM5750218 KMT2C c.7703G>T p.G2568V Substitution - Missense Stomach COSM1291743 PBRM1 c.2540T>C p.V847A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM464703 RAD54L c.1354T>C p.S452P Substitution - Missense Kidney COSM3431918 TRRAP c.4686C>T p.N1562N Substitution - coding silent Large_intestine COSM233971 ING5 c.388+6T>A p.? Unknown Skin COSM4170752 CREBBP c.5040_5042delCTT p.L1681delL Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM3567444 MBD5 c.1504C>T p.P502S Substitution - Missense Skin COSM991720 MUM1 c.253G>T p.E85* Substitution - Nonsense Endometrium COSM3547378 NCOA3 c.2075G>A p.G692E Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM88748 CREBBP c.4337G>A p.R1446H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4951349 BAZ2A_ENST00000379441 c.200C>A p.S67* Substitution - Nonsense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5895947 EYA1 c.592G>A p.G198R Substitution - Missense Skin COSM4850748 DIDO1 c.4480G>C p.E1494Q Substitution - Missense Cervix COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM299404 PHF11 c.459-9A>C p.? Unknown Large_intestine COSM4961486 BAZ2A c.2979C>T p.R993R Substitution - coding silent Liver COSM3922059 PHF3 c.481G>A p.A161T Substitution - Missense Skin COSM5878784 DNMT3A c.2083-2A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM4654918 NSD1 c.2715C>A p.Y905* Substitution - Nonsense Large_intestine COSM1566443 EP300 c.550C>T p.Q184* Substitution - Nonsense Large_intestine COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM4945171 CHD1 c.4241_4242insT p.S1415fs*4 Insertion - Frameshift Testis COSM52903 PBRM1 c.2368_2369delAT p.M790fs*5 Deletion - Frameshift Kidney COSM1483709 NCOA3 c.526T>C p.S176P Substitution - Missense Breast COSM5461480 HDGFL1 c.566C>T p.T189M Substitution - Missense Large_intestine COSM729195 MECOM c.568T>G p.C190G Substitution - Missense Lung COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM903692 SMYD2 c.612G>T p.L204F Substitution - Missense Endometrium COSM3562336 SMC1A c.2956C>T p.L986L Substitution - coding silent Skin COSM1080049 CDYL c.724G>A p.G242R Substitution - Missense Endometrium COSM1725443 SETD8 c.159G>T p.K53N Substitution - Missense Stomach COSM5510667 ZMYM2 c.205delC p.P70fs*7 Deletion - Frameshift Biliary_tract COSM927108 PHF21A c.1629G>A p.Q543Q Substitution - coding silent Endometrium COSM1675363 KAT6B c.2833C>A p.L945I Substitution - Missense Large_intestine COSM1296438 SCMH1 c.1656C>A p.I552I Substitution - coding silent Urinary_tract COSM1049143 BRPF1 c.2695C>A p.L899M Substitution - Missense Endometrium COSM3840732 ASXL1 c.3047C>T p.A1016V Substitution - Missense Breast COSM22611 MEN1 c.422A>G p.Q141R Substitution - Missense Pancreas COSM22020 NCOA2 c.603G>C p.R201R Substitution - coding silent Lung COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Endometrium COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43440 TET2 c.1061C>G p.S354* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM53274 TET2 c.5041_5048delCCAAGGTT p.P1681fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Pancreas COSM53093 DNMT3A c.1846_1846delG p.E616fs*35 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85854 MEN1 c.800_822del23 p.L267fs*42 Deletion - Frameshift Pancreas COSM77600 DNMT1 c.4145C>T p.S1382L Substitution - Missense Lung COSM97040 ASXL1 c.2485C>T p.Q829* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM87919 SHPRH c.495_496insA p.E166fs*7 Insertion - Frameshift Central_nervous_system COSM96416 CREBBP c.3211G>A p.A1071T Substitution - Missense Ovary COSM140864 NCOA5 c.460G>T p.G154* Substitution - Nonsense Skin COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Upper_aerodigestive_tract COSM249612 RTF1 c.888_891delAACA p.N298fs*16 Deletion - Frameshift Stomach COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Large_intestine COSM254673 EP300 c.4561G>C p.E1521Q Substitution - Missense Urinary_tract COSM300832 ZMYM4 c.2128delT p.F710fs*13 Deletion - Frameshift Large_intestine COSM288248 SETD6 c.891A>G p.A297A Substitution - coding silent Large_intestine COSM332118 MLL5 c.4440T>A p.P1480P Substitution - coding silent Lung COSM343273 TDRD5 c.70G>A p.D24N Substitution - Missense Lung COSM348417 ALKBH3 c.829G>A p.V277I Substitution - Missense Lung COSM367225 PRMT1 c.903G>A p.V301V Substitution - coding silent Lung COSM426108 PRDM16 c.581A>G p.Y194C Substitution - Missense Breast COSM427452 ZMYND11 c.856C>G p.Q286E Substitution - Missense Breast COSM466402 KMT2A c.7544C>A p.P2515Q Substitution - Missense Kidney COSM611859 HCFC1 c.425C>T p.T142M Substitution - Missense Stomach COSM488666 BRWD3 c.860G>C p.G287A Substitution - Missense Kidney COSM681800 ORC1 c.1319C>T p.S440F Substitution - Missense Lung COSM675116 TTF2 c.2151C>T p.L717L Substitution - coding silent Lung COSM954439 CHD8 c.3324C>T p.I1108I Substitution - coding silent Endometrium COSM1049765 TET2 c.4832C>A p.S1611Y Substitution - Missense Endometrium COSM1023554 SMYD1 c.958C>T p.R320C Substitution - Missense Skin COSM708180 AP001011.3_ENST00000320876 c.3575C>G p.S1192C Substitution - Missense Lung COSM734123 CLOCK c.1291T>G p.S431A Substitution - Missense Lung COSM1055643 GABRG1 c.756G>A p.T252T Substitution - coding silent Skin COSM971262 BRD7 c.1585G>A p.V529I Substitution - Missense Endometrium COSM1128578 KMT2D c.14516G>T p.C4839F Substitution - Missense Prostate COSM1108227 TAF1L c.3552C>T p.L1184L Substitution - coding silent Endometrium COSM1130633 CHD6 c.86A>G p.N29S Substitution - Missense Prostate COSM1251473 ERCC6 c.3862C>T p.R1288* Substitution - Nonsense Soft_tissue COSM1239183 KAT2B c.1492G>A p.V498M Substitution - Missense Oesophagus COSM1201002 CHD7 c.4822A>G p.R1608G Substitution - Missense Large_intestine COSM1181004 NIPBL c.8320delA p.I2776fs*3 Deletion - Frameshift Large_intestine COSM1693776 MECOM c.1852G>A p.E618K Substitution - Missense Skin COSM1220380 PHF3 c.605G>A p.R202Q Substitution - Missense Large_intestine COSM1215210 KMT2D c.3374C>T p.S1125L Substitution - Missense Large_intestine COSM1225387 SETD7 c.7A>C p.S3R Substitution - Missense Large_intestine COSM1190189 TRIM28 c.1325C>T p.P442L Substitution - Missense Soft_tissue COSM1298644 RSF1 c.2377G>A p.D793N Substitution - Missense Urinary_tract COSM1270988 ZMYM2 c.175G>C p.D59H Substitution - Missense Oesophagus COSM1324721 SIRT7 c.774C>A p.A258A Substitution - coding silent Ovary COSM1423554 SETD2 c.3152T>C p.V1051A Substitution - Missense Liver COSM1461439 EHMT1 c.2025G>A p.R675R Substitution - coding silent Large_intestine COSM1462020 TAF1L c.270C>T p.G90G Substitution - coding silent Large_intestine COSM1566684 PBRM1 c.2211A>G p.T737T Substitution - coding silent Soft_tissue COSM1608394 TP53BP1 c.5291-8delT p.? Unknown Biliary_tract COSM1491616 TRIM33 c.1635T>A p.T545T Substitution - coding silent Kidney COSM1687441 ZMYM6 c.1798C>T p.L600F Substitution - Missense Skin COSM1641009 L3MBTL4 c.1359G>C p.V453V Substitution - coding silent Stomach COSM1683924 SETD2 c.6096_6097delTG p.V2033fs*9 Deletion - Frameshift Kidney COSM1695987 CHD1 c.2432C>T p.S811L Substitution - Missense Skin COSM1664643 TP53BP1 c.5855T>C p.I1952T Substitution - Missense Kidney COSM1665099 ZGPAT c.526T>A p.S176T Substitution - Missense Kidney COSM1741220 IDH1 c.315C>T p.G105G Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1737874 IDH2 c.418C>G p.R140G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2156277 TDRD7 c.1985G>T p.C662F Substitution - Missense Central_nervous_system COSM2157040 BAHD1 c.2229C>T p.D743D Substitution - coding silent Central_nervous_system COSM2221780 TRIM66 c.2928C>T p.C976C Substitution - coding silent Large_intestine COSM2758203 NCOA6 c.1753A>G p.M585V Substitution - Missense Large_intestine COSM2801179 PHF12 c.2038A>G p.I680V Substitution - Missense Large_intestine COSM3095734 TAF1 c.1334C>T p.A445V Substitution - Missense Stomach COSM3205520 TBL1XR1 c.1473G>C p.W491C Substitution - Missense Large_intestine COSM3296137 MBD5 c.1536C>T p.S512S Substitution - coding silent Upper_aerodigestive_tract COSM3296180 MBD5 c.2415T>C p.N805N Substitution - coding silent Large_intestine COSM3356824 SRCAP c.1231G>A p.E411K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3392235 FXR1 c.109C>T p.Q37* Substitution - Nonsense Pancreas COSM3378603 CARM1 c.257G>A p.R86Q Substitution - Missense Pancreas COSM3431393 SMARCD3 c.607C>A p.L203I Substitution - Missense Large_intestine COSM3458218 EP400 c.356C>T p.S119L Substitution - Missense Skin COSM3642844 TRRAP c.10947G>A p.L3649L Substitution - coding silent Skin COSM3624838 EHMT2 c.1670C>T p.P557L Substitution - Missense Skin COSM3578912 SP140_ENST00000392045 c.2092G>A p.D698N Substitution - Missense Skin COSM3548783 DIDO1 c.4787C>T p.S1596F Substitution - Missense Skin COSM3515535 PHF12 c.1087C>T p.P363S Substitution - Missense Skin COSM3523242 CBX4 c.842C>T p.S281F Substitution - Missense Skin COSM3662778 KMT2C c.2491A>G p.T831A Substitution - Missense Liver COSM3650069 CHD7 c.2657G>A p.R886Q Substitution - Missense Skin COSM3692332 CARM1 c.1581C>T p.G527G Substitution - coding silent Large_intestine COSM3691456 PHF12 c.2512G>A p.G838R Substitution - Missense Large_intestine COSM3724251 ZMYM5 c.1133G>A p.R378H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3723047 PHRF1 c.4688T>G p.L1563R Substitution - Missense Upper_aerodigestive_tract COSM3749088 PWWP2B c.1032G>A p.E344E Substitution - coding silent Large_intestine COSM3778259 KMT2C c.10359C>T p.F3453F Substitution - coding silent Urinary_tract COSM3964351 EP300 c.3806+8T>G p.? Unknown Lung COSM4031022 ARID1A c.5301A>G p.E1767E Substitution - coding silent Stomach COSM4023043 ASH1L c.6464G>A p.R2155K Substitution - Missense Stomach COSM4043679 BAZ2A c.2312G>T p.R771I Substitution - Missense Stomach COSM3985775 TAF3 c.2163G>C p.K721N Substitution - Missense Kidney COSM4074996 BRD4 c.138G>A p.P46P Substitution - coding silent Stomach COSM4138688 ELP3 c.1409C>G p.S470C Substitution - Missense Kidney COSM4160404 KDM1B c.1479T>C p.D493D Substitution - coding silent Thyroid COSM4170449 KMT2D c.3329G>A p.C1110Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4440711 TBL1XR1 c.35_38delTATA p.Y13fs*17 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4410707 PBRM1 c.435delT p.R146fs*28 Deletion - Frameshift Kidney COSM4770177 PBRM1 c.4576+5_4576+6insGAG p.? Unknown Soft_tissue COSM4713960 PHF17 c.1950T>C p.G650G Substitution - coding silent Large_intestine COSM4611054 ASXL1 c.1935delT p.G646fs*57 Deletion - Frameshift Large_intestine COSM4800152 DIDO1 c.2959G>C p.D987H Substitution - Missense Liver COSM4883037 DHX30 c.3309C>A p.T1103T Substitution - coding silent Upper_aerodigestive_tract COSM4851897 KDM2A c.3203G>A p.R1068Q Substitution - Missense Cervix COSM4992384 PRDM1 c.1334C>T p.P445L Substitution - Missense Skin COSM5051789 BAZ2A c.2537G>A p.R846Q Substitution - Missense Stomach COSM5055241 NCOR1 c.5326C>T p.Q1776* Substitution - Nonsense Stomach COSM5149036 PRDM7 c.169G>A p.E57K Substitution - Missense Oesophagus COSM5325085 BAP1 c.1661delG p.G554fs*17 Deletion - Frameshift Eye COSM5372041 PRDM10 c.2735C>T p.T912M Substitution - Missense Skin COSM5405870 PHIP c.3444C>T p.I1148I Substitution - coding silent Skin COSM5392265 NCOA3 c.2656G>A p.G886S Substitution - Missense Skin COSM5492145 SHPRH c.4870C>T p.R1624* Substitution - Nonsense Biliary_tract COSM5441955 HDAC10 c.1969C>T p.Q657* Substitution - Nonsense Oesophagus COSM5631924 EP300 c.1765C>A p.Q589K Substitution - Missense Oesophagus COSM5648774 SETMAR c.1666T>A p.S556T Substitution - Missense Oesophagus COSM5715409 DOT1L c.2024G>A p.G675E Substitution - Missense Skin COSM5725274 ATRX c.5921G>A p.G1974E Substitution - Missense Skin COSM5605550 ASH1L c.1634C>T p.S545F Substitution - Missense Skin COSM5677579 TDRD10 c.1097C>T p.A366V Substitution - Missense Soft_tissue COSM5778128 IDH2 c.136G>A p.V46M Substitution - Missense Breast COSM1716802 TET2 c.? p.Q591* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM3738491 TET2 c.? p.C1298fs*2 Frameshift Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4767346 IDH1 c.? p.G105G Substitution - coding silent Central_nervous_system COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM307759 TET2 c.? p.L34F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4984823 ATRX c.? p.P2478fs*2 Frameshift Lung COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5888782 TBL1XR1 c.1382C>T p.S461F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3498277 ALKBH1 c.82C>T p.R28C Substitution - Missense Skin COSM1631924 HDAC4 c.541A>G p.N181D Substitution - Missense Liver COSM2235502 ARID1A c.3744A>C p.S1248S Substitution - coding silent Large_intestine COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM1668900 MSH6 c.3566C>T p.T1189I Substitution - Missense Large_intestine COSM122851 EP300 c.4195G>A p.D1399N Substitution - Missense Oesophagus COSM4110085 KDM5C c.476G>A p.R159H Substitution - Missense Skin COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM161470 HDAC1 c.1192G>A p.E398K Substitution - Missense Breast COSM292119 ZMYM3 c.1489C>A p.P497T Substitution - Missense Large_intestine COSM3778081 SND1 c.1455-1G>A p.? Unknown Urinary_tract COSM3453556 RSF1 c.1832C>T p.P611L Substitution - Missense Skin COSM5056619 SIRT2 c.601C>T p.R201W Substitution - Missense Stomach COSM3724468 ARID1A c.3670A>G p.M1224V Substitution - Missense Large_intestine COSM5853056 AKAP1 c.2345C>T p.S782F Substitution - Missense Skin COSM5887144 SMARCB1 c.140A>C p.Y47S Substitution - Missense Skin COSM3144584 L3MBTL4 c.1147G>A p.G383R Substitution - Missense Pancreas COSM1412258 NCOA3 c.3789G>A p.Q1263Q Substitution - coding silent Large_intestine COSM4843677 EP400 c.1454G>C p.R485P Substitution - Missense Cervix COSM4410659 MYST2 c.326A>G p.D109G Substitution - Missense Kidney COSM1666119 PRDM15 c.2947G>A p.E983K Substitution - Missense Eye COSM1665825 TTF2 c.2964delA p.E989fs*34 Deletion - Frameshift Kidney COSM5988495 HNF1A c.956_1127del172 p.G319fs*8 Deletion - Frameshift Liver COSM5780544 EYA3 c.1707G>T p.E569D Substitution - Missense Breast COSM3494944 CHD8 c.2368C>T p.R790C Substitution - Missense Skin COSM133571 ASXL1 c.1867C>T p.Q623* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM95844 EP300 c.1839G>C p.R613R Substitution - coding silent Lung COSM1707703 SMEK1 c.751C>T p.P251S Substitution - Missense Skin COSM975871 NCOR1 c.4444C>T p.R1482W Substitution - Missense Endometrium COSM2080214 ZMYM4 c.432G>A p.Q144Q Substitution - coding silent Large_intestine COSM5610637 SMARCA4 c.2921C>T p.P974L Substitution - Missense Skin COSM2967981 KDM5C c.1674T>A p.D558E Substitution - Missense Large_intestine COSM993704 DOT1L c.114C>T p.I38I Substitution - coding silent Endometrium COSM4458275 ADNP c.1079C>T p.P360L Substitution - Missense Skin COSM3508218 GTF3C1 c.3923C>T p.S1308F Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM947865 SETDB2 c.546T>C p.S182S Substitution - coding silent Endometrium COSM3708261 CBX6 c.522C>T p.I174I Substitution - coding silent Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM3725137 SMARCA1 c.912C>G p.H304Q Substitution - Missense Lung COSM3730023 HDAC5 c.2793_2794insC p.I932fs*24 Insertion - Frameshift Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM3590485 FXR1 c.1217C>T p.S406F Substitution - Missense Skin COSM1635198 KMT2C c.2185A>G p.N729D Substitution - Missense Upper_aerodigestive_tract COSM241809 SUV420H1 c.2395_2396delGG p.C801fs*3 Deletion - Frameshift Prostate COSM5805114 TAF1L c.1737A>C p.E579D Substitution - Missense Liver COSM5952343 SETD7 c.170+9C>T p.? Unknown Oesophagus COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Skin COSM1173088 KDM3B c.5065C>T p.H1689Y Substitution - Missense Liver COSM1034594 L3MBTL2 c.1914G>A p.T638T Substitution - coding silent Endometrium COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1738265 SETMAR c.677G>C p.C226S Substitution - Missense Ovary COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1196414 EYA4 c.385G>C p.G129R Substitution - Missense Lung COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM211829 RBBP4 c.116C>G p.A39G Substitution - Missense Breast COSM21251 TAF1L c.5472C>A p.H1824Q Substitution - Missense Lung COSM5752028 PHF6 c.986_987insG p.H329fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3727928 ARID1B c.3857G>A p.S1286N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM107974 KDM1B c.470T>C p.I157T Substitution - Missense Skin COSM5061286 CHD1 c.255G>T p.E85D Substitution - Missense Stomach COSM95558 ZMYM2 c.95G>A p.G32E Substitution - Missense Skin COSM5990300 PRDM12 c.682+7G>C p.? Unknown Liver COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5891176 NCOA6 c.1696C>T p.P566S Substitution - Missense Skin COSM3719314 TET2 c.4894C>T p.Q1632* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5750967 BRWD3 c.2554G>T p.D852Y Substitution - Missense Stomach COSM2805026 BAHCC1 c.6325G>A p.V2109M Substitution - Missense Large_intestine COSM3557681 SMARCA1 c.1816-1G>A p.? Unknown Skin COSM3850368 BRD8 c.2854G>A p.E952K Substitution - Missense Stomach COSM4399827 TDRD5 c.1844G>A p.C615Y Substitution - Missense Skin COSM5484042 CTCF c.829C>T p.R277W Substitution - Missense Large_intestine COSM1124809 ZMYM3 c.2249G>A p.R750H Substitution - Missense Endometrium COSM3559644 HCFC1 c.1382C>T p.P461L Substitution - Missense Skin COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1469185 ZMYM3 c.252delG p.L85fs*28 Deletion - Frameshift Breast COSM5645601 SIRT1 c.1258G>T p.E420* Substitution - Nonsense Oesophagus COSM3637562 STK31 c.2488G>A p.E830K Substitution - Missense Skin COSM4583279 SP110 c.848G>A p.C283Y Substitution - Missense Bone COSM24916 HNF1A c.257_258delTC p.L86fs*9 Deletion - Frameshift Liver COSM4789438 TTF2 c.1524A>T p.L508L Substitution - coding silent Liver COSM250089 EZH2 c.? p.K61fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM1666862 ARID1A c.? p.? Unknown Ovary COSM478590 BRWD1 c.4644T>C p.S1548S Substitution - coding silent Kidney COSM379884 SRCAP c.5135C>T p.P1712L Substitution - Missense Lung COSM371829 BAZ2B c.4133G>T p.G1378V Substitution - Missense Lung COSM4016860 HELLS c.1761A>G p.E587E Substitution - coding silent Stomach COSM1468501 KDM5C c.2005_2007delGAG p.E669delE Deletion - In frame Large_intestine COSM4843450 EHMT2 c.1893C>T p.A631A Substitution - coding silent Cervix COSM5991642 ARID1A c.? p.R1722* Substitution - Nonsense Breast COSM1444078 BRPF3 c.1616A>G p.D539G Substitution - Missense Large_intestine COSM1580616 BRD4 c.682G>A p.V228I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM309537 BRWD1 c.5282A>G p.K1761R Substitution - Missense Soft_tissue COSM4440046 TDRD6 c.1062G>C p.V354V Substitution - coding silent Thyroid COSM4603628 ATRX c.662+2T>G p.? Unknown Central_nervous_system COSM4942341 KMT2C c.4867G>T p.E1623* Substitution - Nonsense Liver COSM4985024 LMNA c.1338T>C p.D446D Substitution - coding silent Soft_tissue COSM131031 ARID2 c.74_75insA p.F26fs*10 Insertion - Frameshift Liver COSM4122508 SMARCA5 c.3086A>T p.K1029M Substitution - Missense Stomach COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3618954 CHD1 c.3912C>T p.T1304T Substitution - coding silent Oesophagus COSM1754573 SHPRH c.3222A>T p.S1074S Substitution - coding silent Urinary_tract COSM326577 STK31 c.2172G>T p.M724I Substitution - Missense Lung COSM1439343 CHD1 c.1731G>A p.T577T Substitution - coding silent Large_intestine COSM4391838 NCOR1 c.5581A>G p.S1861G Substitution - Missense Prostate COSM419537 L3MBTL2 c.2029G>C p.E677Q Substitution - Missense Urinary_tract COSM3340997 NSD1 c.302A>C p.E101A Substitution - Missense Upper_aerodigestive_tract COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1737149 PHF19 c.1679G>A p.R560Q Substitution - Missense Central_nervous_system COSM5124942 SMARCA2 c.1692+4C>T p.? Unknown Large_intestine COSM4971201 DNMT3B c.1461G>A p.L487L Substitution - coding silent Central_nervous_system COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1386960 CBX4 c.690delC p.N231fs*3 Deletion - Frameshift Large_intestine COSM179027 GLYR1 c.1256C>T p.A419V Substitution - Missense Stomach COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4959727 BMI1 c.761G>A p.G254E Substitution - Missense Liver COSM1534249 DIDO1 c.5869C>T p.P1957S Substitution - Missense Skin COSM3966997 BMI1 c.744A>G p.E248E Substitution - coding silent Central_nervous_system COSM1671328 PHF17 c.524T>C p.L175P Substitution - Missense Large_intestine COSM1628603 ARID2 c.755_756delAC p.D252fs*6 Deletion - Frameshift Liver COSM5933449 GTF3C1 c.609-7C>T p.? Unknown Skin COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM384248 KMT2A c.6696C>T p.T2232T Substitution - coding silent Lung COSM50785 JMJD1C c.2731G>A p.A911T Substitution - Missense Breast COSM4460446 PRDM9 c.1166C>T p.P389L Substitution - Missense Skin COSM1936618 BAZ2A_ENST00000379441 c.1718G>A p.W573* Substitution - Nonsense Large_intestine COSM233026 ORC1 c.433C>T p.P145S Substitution - Missense Skin COSM4613674 ARID1B c.1640_1641insGCA p.Q548_P549insQ Insertion - In frame Large_intestine COSM1186056 ATF2 c.806C>A p.P269Q Substitution - Missense Lung COSM3876914 MLL5 c.5203T>C p.S1735P Substitution - Missense Stomach COSM1317975 CHD4 c.2924G>A p.R975H Substitution - Missense Ovary COSM5051640 KMT2D c.3395A>G p.H1132R Substitution - Missense Stomach COSM1694318 GABRG1 c.98G>A p.G33E Substitution - Missense Skin COSM1317975 CHD4 c.2924G>A p.R975H Substitution - Missense Pancreas COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM3879579 KMT2C c.4787A>G p.D1596G Substitution - Missense Stomach COSM1626374 PRDM2 c.3564G>T p.G1188G Substitution - coding silent Liver COSM455184 POLE3 c.160_162delAAC p.N54delN Deletion - In frame Breast COSM285642 TDRD6 c.3180G>A p.K1060K Substitution - coding silent Large_intestine COSM1341426 ARID1A c.5542delG p.D1850fs*33 Deletion - Frameshift Biliary_tract COSM4925562 RING1 c.482C>T p.P161L Substitution - Missense Liver COSM51200 ASXL1 c.1888_1910del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43433 TET2 c.937_940delACCT p.T313fs*33 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4771411 PBRM1 c.2785G>T p.E929* Substitution - Nonsense Kidney COSM5949979 ZMYM4 c.3298T>C p.S1100P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM716181 BAZ2B c.2185C>T p.P729S Substitution - Missense Lung COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3426185 SP100 c.545G>A p.R182Q Substitution - Missense Pancreas COSM158731 PHF6 c.725G>A p.C242Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4416627 ACTA1 c.130-10G>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1159611 KDM4C c.2025C>T p.V675V Substitution - coding silent Pancreas COSM1329658 TDRD6 c.1638G>T p.K546N Substitution - Missense Ovary COSM5567539 ARID1A c.5252G>A p.S1751N Substitution - Missense Prostate COSM137998 PRDM11 c.1186G>A p.E396K Substitution - Missense Skin COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3431053 MLL5 c.1345G>C p.D449H Substitution - Missense Large_intestine COSM5945939 ARID2 c.3622A>G p.T1208A Substitution - Missense Skin COSM211728 TET2 c.3965T>A p.L1322Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144567 PHF6 c.820C>T p.R274* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5434383 KMT2D c.6442C>T p.Q2148* Substitution - Nonsense Oesophagus COSM221110 KMT2D c.3874+2T>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5722618 KAT2A c.265C>T p.Q89* Substitution - Nonsense Skin COSM254668 EP300 c.2470C>T p.Q824* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1615599 CHD6 c.1975T>C p.F659L Substitution - Missense Liver COSM5176467 SIRT5 c.884C>T p.T295M Substitution - Missense Large_intestine COSM4912398 INO80B c.403G>A p.E135K Substitution - Missense Liver COSM3434299 TDRD1 c.2622C>T p.T874T Substitution - coding silent Skin COSM1061238 BRD8 c.2321G>A p.R774H Substitution - Missense Endometrium COSM1045475 SETD2 c.2871G>A p.W957* Substitution - Nonsense Endometrium COSM4015086 JMJD1C c.6410A>G p.D2137G Substitution - Missense Stomach COSM301397 SMARCD2 c.1132G>A p.A378T Substitution - Missense Large_intestine COSM3796092 ZBTB4 c.972G>C p.L324L Substitution - coding silent Urinary_tract COSM1117711 HCFC1 c.4657G>A p.G1553S Substitution - Missense Endometrium COSM1718683 DOT1L c.1095C>T p.A365A Substitution - coding silent Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1132511 TAF1L c.2605G>A p.A869T Substitution - Missense Large_intestine COSM4060707 CREBBP c.4556A>G p.Y1519C Substitution - Missense Stomach COSM252994 EPC1 c.1243-4delT p.? Unknown Large_intestine COSM3770401 SMARCA5 c.2943_2947delTCAGT p.F983fs*2 Deletion - Frameshift Soft_tissue COSM5575639 TRIM24 c.1927A>G p.T643A Substitution - Missense Stomach COSM3360869 ZMYM4 c.2124T>C p.F708F Substitution - coding silent Kidney COSM4883525 ATAD2 c.2260G>T p.D754Y Substitution - Missense Upper_aerodigestive_tract COSM3611751 HDAC3 c.1118C>T p.P373L Substitution - Missense Skin COSM340363 TDG c.516G>T p.Q172H Substitution - Missense Lung COSM1605806 EP400 c.97A>C p.N33H Substitution - Missense Upper_aerodigestive_tract COSM912519 RERE c.2071C>T p.R691C Substitution - Missense Pancreas COSM5965824 SMARCA4 c.4611G>C p.Q1537H Substitution - Missense Breast COSM1637190 SMARCA1 c.530-1G>A p.? Unknown Bone COSM1169367 ATRX c.3971C>A p.S1324* Substitution - Nonsense Pancreas COSM4237266 ZMYM1 c.1246G>T p.A416S Substitution - Missense Large_intestine COSM5777323 PRMT7 c.1249C>G p.L417V Substitution - Missense Breast COSM5895315 TP53BP1 c.2702-4delT p.? Unknown Skin COSM3699794 PHF2 c.2094C>T p.N698N Substitution - coding silent Large_intestine COSM1318626 TET2 c.2839C>T p.Q947* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5636904 DNMT3A c.2730G>A p.A910A Substitution - coding silent Oesophagus COSM361796 MGA c.6850A>T p.R2284* Substitution - Nonsense Lung COSM1446056 PHIP c.1261A>C p.K421Q Substitution - Missense Large_intestine COSM5801970 MUM1 c.1288-7_1296del16 p.? Unknown Breast COSM1685937 MECOM c.692C>T p.S231F Substitution - Missense Skin COSM144610 KMT2D c.7648C>T p.Q2550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4147582 ING1 c.487T>C p.S163P Substitution - Missense Thyroid COSM3637539 STK31 c.1172C>T p.S391L Substitution - Missense Skin COSM2154875 PHC2 c.2496C>G p.D832E Substitution - Missense Central_nervous_system COSM3681679 MECP2 c.685T>G p.S229A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1287107 PHF11 c.143G>T p.C48F Substitution - Missense Autonomic_ganglia COSM1387298 BAHCC1 c.7200C>T p.T2400T Substitution - coding silent Large_intestine COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1122954 KDM5C c.2109T>C p.D703D Substitution - coding silent Endometrium COSM5342378 TDRD3 c.722G>C p.G241A Substitution - Missense Large_intestine COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM3717860 SMCHD1 c.1431G>T p.K477N Substitution - Missense Liver COSM4129157 SETD6 c.479T>A p.I160N Substitution - Missense Thyroid COSM5816119 JARID2 c.1305G>A p.E435E Substitution - coding silent Liver COSM4807720 ATRX c.4740A>T p.K1580N Substitution - Missense Pancreas COSM312767 MBD6 c.1193C>G p.P398R Substitution - Missense Lung COSM4681101 EP400 c.1280A>G p.E427G Substitution - Missense Large_intestine COSM4878643 KDM6B c.3643A>T p.I1215F Substitution - Missense Prostate COSM2221842 TRIM66 c.1706C>T p.T569I Substitution - Missense Adrenal_gland COSM3300222 BAZ2B c.5766A>G p.S1922S Substitution - coding silent Large_intestine COSM1184239 ATXN7 c.640G>A p.A214T Substitution - Missense Large_intestine COSM4955686 GATAD2A c.167A>G p.N56S Substitution - Missense Liver COSM4586657 PHF1 c.1490C>G p.S497C Substitution - Missense Bone COSM3405159 NCOA5 c.250G>A p.V84M Substitution - Missense Central_nervous_system COSM4612871 KMT2D c.9843delA p.A3282fs*106 Deletion - Frameshift Large_intestine COSM5633670 MTA2 c.163C>T p.L55F Substitution - Missense Oesophagus COSM579148 PRDM15 c.3930G>C p.A1310A Substitution - coding silent Urinary_tract COSM5984601 TP53BP1 c.3796G>C p.E1266Q Substitution - Missense Upper_aerodigestive_tract COSM1658924 ACTB c.277G>A p.E93K Substitution - Missense Skin COSM1643149 PHIP c.4055A>G p.D1352G Substitution - Missense Stomach COSM5354535 DNMT3A c.258G>A p.E86E Substitution - coding silent Large_intestine COSM3950297 HDAC9 c.2283C>T p.V761V Substitution - coding silent Lung COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Central_nervous_system COSM5028408 SMCHD1 c.4037_4038insG p.C1347fs*>20 Insertion - Frameshift Breast COSM4920538 CHD1 c.3364A>G p.N1122D Substitution - Missense Liver COSM3547340 EYA2 c.1122G>A p.V374V Substitution - coding silent Skin COSM415164 TDRD1 c.276C>T p.I92I Substitution - coding silent Urinary_tract COSM1375397 IDH2 c.829G>A p.D277N Substitution - Missense Large_intestine COSM5938304 TRIM66 c.1515G>A p.M505I Substitution - Missense Skin COSM375108 HDAC9 c.105C>A p.P35P Substitution - coding silent Lung COSM124054 L3MBTL2 c.169G>A p.E57K Substitution - Missense Upper_aerodigestive_tract COSM96347 ASXL1 c.? p.G646fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM225885 KMT2C c.1139G>T p.R380L Substitution - Missense Thyroid COSM2154067 PHF20 c.1635G>A p.K545K Substitution - coding silent Central_nervous_system COSM110756 TET2 c.1900_1901insTG p.Y634fs*6 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3659945 SMYD5 c.849G>A p.E283E Substitution - coding silent Liver COSM4736057 TRIM33 c.1631C>A p.P544Q Substitution - Missense Large_intestine COSM27947 SMARCB1 c.606_607ins20 p.A203fs*13 Insertion - Frameshift Central_nervous_system COSM53246 TET2 c.3001A>T p.K1001* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4064347 RAI1 c.2406G>T p.K802N Substitution - Missense Stomach COSM3924319 TRRAP c.10057C>T p.L3353L Substitution - coding silent Skin COSM1637198 KDM3B c.910G>A p.G304R Substitution - Missense Bone COSM3381393 PRDM1 c.287G>T p.R96M Substitution - Missense Pancreas COSM96481 CREBBP c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3548785 DIDO1 c.4368C>T p.S1456S Substitution - coding silent Skin COSM233099 PHF3 c.4195T>A p.F1399I Substitution - Missense Skin COSM112022 ARID1B c.5667_5668insT p.Q1890fs*36 Insertion - Frameshift Ovary COSM398810 BRPF1 c.2925A>C p.L975F Substitution - Missense Lung COSM4383819 TET2 c.1646delC p.T549fs*12 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5500998 SMARCA5 c.2731A>G p.I911V Substitution - Missense Biliary_tract COSM88793 EP300 c.4617+1G>A p.? Unknown Oesophagus COSM1602331 MEAF6 c.224A>G p.N75S Substitution - Missense Liver COSM4606208 WHSC1L1 c.9C>G p.F3L Substitution - Missense Upper_aerodigestive_tract COSM4803256 SRCAP c.3119C>G p.P1040R Substitution - Missense Liver COSM1211799 KDM6B c.2059G>A p.E687K Substitution - Missense Large_intestine COSM111693 KAT6B c.3289_3291delGAA p.E1097delE Deletion - In frame Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM368656 MBTD1 c.630A>G p.V210V Substitution - coding silent Lung COSM5510963 ASXL3 c.1919G>A p.R640Q Substitution - Missense Biliary_tract COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1722323 NCOA1 c.1652C>T p.S551F Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM161459 HCFC1 c.4153C>T p.R1385W Substitution - Missense Breast COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1473820 ARID1A c.6746_6747insA p.E2250fs*28 Insertion - Frameshift Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM88748 CREBBP c.4337G>A p.R1446H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM745863 KMT2C c.5254A>T p.K1752* Substitution - Nonsense Lung COSM280910 EYA4 c.328G>T p.A110S Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM466808 PRDM11 c.1029G>A p.L343L Substitution - coding silent Kidney COSM1355398 MTA2 c.139C>T p.R47W Substitution - Missense Large_intestine COSM4837698 HDAC9 c.2358C>T p.H786H Substitution - coding silent Cervix COSM2182760 SETDB1 c.2844delC p.P950fs*16 Deletion - Frameshift Large_intestine COSM1943935 TDRD3 c.1210delA p.R406fs*28 Deletion - Frameshift Large_intestine COSM144795 BRWD3 c.362C>G p.A121G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5346924 ARID1A c.6344_6345delAG p.R2116fs*33 Deletion - Frameshift Endometrium COSM1639821 ARID1A c.5643_5652del10 p.H1881fs*39 Deletion - Frameshift Stomach COSM4798745 CBX2 c.75C>A p.G25G Substitution - coding silent Liver COSM747176 BAZ1B c.2347G>T p.V783L Substitution - Missense Lung COSM3567447 MBD5 c.1976G>A p.R659K Substitution - Missense Skin COSM4007337 ZMYM1 c.2962T>C p.Y988H Substitution - Missense Stomach COSM4820286 TRRAP c.679G>A p.E227K Substitution - Missense Cervix COSM1293257 ZMYM4 c.2104G>C p.D702H Substitution - Missense Cervix COSM53032 EZH2 c.1991A>T p.D664V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4385554 PHF6 c.643T>C p.C215R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM118698 SRCAP c.4521A>C p.L1507L Substitution - coding silent Ovary COSM956521 ARID4A c.503G>A p.R168H Substitution - Missense Endometrium COSM3785413 NCOA3 c.2255C>T p.S752F Substitution - Missense Pancreas COSM4979793 SETD2 c.5959C>T p.R1987W Substitution - Missense Oesophagus COSM5434021 TAF3 c.1663G>C p.E555Q Substitution - Missense Oesophagus COSM5053702 RERE c.2012C>T p.T671M Substitution - Missense Stomach COSM144715 PHF6 c.? p.Y303* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5584578 BRWD3 c.2618G>A p.R873K Substitution - Missense Skin COSM5913795 SETD1A c.2129C>T p.A710V Substitution - Missense Skin COSM1017652 SP100 c.1081G>T p.E361* Substitution - Nonsense Endometrium COSM1735775 TP53BP1 c.2702-4_2702-3insT p.? Unknown Oesophagus COSM4976682 PRDM9 c.86A>G p.K29R Substitution - Missense Oesophagus COSM88757 CREBBP c.466C>T p.Q156* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5493060 EP400 c.3634G>A p.D1212N Substitution - Missense Biliary_tract COSM2965329 KDM6A c.1166C>T p.A389V Substitution - Missense Urinary_tract COSM4064320 RAI1 c.104A>T p.Q35L Substitution - Missense Stomach COSM24927 HNF1A c.811C>T p.R271W Substitution - Missense Liver COSM23018 MEN1 c.178G>T p.E60* Substitution - Nonsense Parathyroid COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41875 IDH2 c.419G>T p.R140L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85170 TDRD7 c.633G>T p.M211I Substitution - Missense Pancreas COSM85911 IKZF1 c.161-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Pancreas COSM80549 SMARCA4 c.1428C>A p.L476L Substitution - coding silent Ovary COSM80690 TRRAP c.5946C>T p.I1982I Substitution - coding silent Ovary COSM109496 DIDO1 c.3989C>T p.P1330L Substitution - Missense Skin COSM87130 TET2 c.3781C>T p.R1261C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM136171 ASH1L c.6367C>T p.P2123S Substitution - Missense Skin COSM144573 PHF6 c.986A>G p.H329R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144518 TET2 c.3594+1delG p.? Unknown Haematopoietic_and_lymphoid_tissue COSM144653 DNMT3A c.1729A>T p.K577* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM158738 DAXX c.1111C>T p.R371W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM148423 SETBP1 c.3301G>A p.V1101I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM147383 PRDM10 c.64G>A p.A22T Substitution - Missense Large_intestine COSM184236 ARID1A c.2077C>T p.R693* Substitution - Nonsense Endometrium COSM219420 ATRX c.6864T>A p.R2288R Substitution - coding silent Breast COSM220690 TET2 c.4472A>G p.K1491R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM235474 TDRD1 c.840C>T p.Y280Y Substitution - coding silent Endometrium COSM243680 CHD9 c.3791G>A p.G1264D Substitution - Missense Prostate COSM266645 GTF3C1 c.3129C>T p.C1043C Substitution - coding silent Stomach COSM276725 PHF11 c.157G>A p.E53K Substitution - Missense Large_intestine COSM314464 PRMT7 c.1144A>C p.I382L Substitution - Missense Lung COSM307679 ELP3 c.904delA p.T302fs*14 Deletion - Frameshift Kidney COSM317285 EP400 c.6296C>A p.S2099* Substitution - Nonsense Soft_tissue COSM444190 DIDO1 c.1631T>C p.M544T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM462429 GTF3C4 c.258C>T p.I86I Substitution - coding silent Cervix COSM972499 CTCF c.1702-1G>C p.? Unknown Endometrium COSM481983 BRD8 c.2885T>C p.I962T Substitution - Missense Kidney COSM963080 PYGO1 c.34A>T p.K12* Substitution - Nonsense Endometrium COSM953997 MTA1 c.34G>A p.V12I Substitution - Missense Large_intestine COSM937497 ATF7IP c.1536G>A p.S512S Substitution - coding silent Endometrium COSM939250 KDM5A c.2662C>T p.L888F Substitution - Missense Endometrium COSM743368 PHF3 c.267G>T p.M89I Substitution - Missense Lung COSM990750 SMARCA4 c.2758G>A p.E920K Substitution - Missense Skin COSM1072910 NCOA7 c.276C>T p.D92D Substitution - coding silent Endometrium COSM1076164 PHF10 c.36G>A p.V12V Substitution - coding silent Endometrium COSM969930 SRCAP c.3580G>A p.A1194T Substitution - Missense Endometrium COSM1075344 ARID1B c.198G>A p.Q66Q Substitution - coding silent Endometrium COSM1103011 TDRD7 c.1860C>T p.Y620Y Substitution - coding silent Endometrium COSM1239926 PRDM14 c.1376G>A p.R459Q Substitution - Missense Oesophagus COSM1236348 ARID1A c.3229_3230insG p.A1077fs*28 Insertion - Frameshift Autonomic_ganglia COSM1235158 BRPF1 c.1984G>A p.V662I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1262942 PRDM13 c.1669G>A p.G557R Substitution - Missense Oesophagus COSM1188970 MGA c.2437G>T p.E813* Substitution - Nonsense Lung COSM1606141 ARID2 c.3817C>T p.R1273* Substitution - Nonsense Oesophagus COSM1312554 MLL5 c.1636A>G p.I546V Substitution - Missense Urinary_tract COSM1283621 BAHCC1 c.2053C>T p.R685C Substitution - Missense Autonomic_ganglia COSM1324135 RAI1 c.840G>A p.Q280Q Substitution - coding silent Skin COSM1326698 ZMYND8 c.1510G>A p.A504T Substitution - Missense Ovary COSM1388272 AP001011.3_ENST00000320876 c.1757C>T p.P586L Substitution - Missense Large_intestine COSM1373624 PYGO1 c.824A>G p.N275S Substitution - Missense Large_intestine COSM1356354 KDM2A c.894delT p.L300fs*10 Deletion - Frameshift Large_intestine COSM1610671 BPTF c.8235C>T p.I2745I Substitution - coding silent Liver COSM1618229 INTS12 c.667A>G p.T223A Substitution - Missense Liver COSM1688648 GATAD2B c.1102C>T p.P368S Substitution - Missense Skin COSM1640227 INOC1 c.685delA p.R229fs*45 Deletion - Frameshift Stomach COSM1685043 PRDM8 c.1859G>C p.C620S Substitution - Missense Lung COSM1683542 SMARCA4 c.363_364insC p.S122fs*7 Insertion - Frameshift Large_intestine COSM1757009 CHD6 c.7533C>T p.V2511V Substitution - coding silent Urinary_tract COSM1742341 CHD9 c.2253G>C p.L751F Substitution - Missense Urinary_tract COSM1754197 NSD1 c.2483C>T p.S828F Substitution - Missense Urinary_tract COSM1756702 UTY c.2479C>T p.Q827* Substitution - Nonsense Urinary_tract COSM1724208 PHC2 c.2040C>T p.F680F Substitution - coding silent Skin COSM2006930 KMT2D c.9578_9579insG p.P3196fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2035018 PHRF1 c.323G>A p.C108Y Substitution - Missense Large_intestine COSM2206311 PRMT8 c.83_84insC p.S31fs*11 Insertion - Frameshift Breast COSM2812066 SETBP1 c.1799C>T p.T600M Substitution - Missense Stomach COSM3341243 NSD1 c.6924C>T p.S2308S Substitution - coding silent Skin COSM3385217 TDRD10 c.901G>A p.D301N Substitution - Missense Skin COSM3413590 TAF1L c.5018C>G p.T1673R Substitution - Missense Central_nervous_system COSM3443971 KMT2A c.5321C>T p.S1774F Substitution - Missense Skin COSM3424447 SMARCA1 c.1531A>G p.M511V Substitution - Missense Large_intestine COSM3637549 STK31 c.1786G>A p.E596K Substitution - Missense Skin COSM3596277 SFMBT1 c.1447C>T p.L483L Substitution - coding silent Skin COSM3567459 MBD5 c.3197C>T p.S1066F Substitution - Missense Skin COSM3662395 EHMT2 c.1365+9G>A p.? Unknown Liver COSM3717852 AP001011.3_ENST00000320876 c.222T>C p.I74I Substitution - coding silent Liver COSM3730593 KDM1A c.1843C>T p.R615* Substitution - Nonsense Stomach COSM3731905 ATF7IP c.2158+6delT p.? Unknown Stomach COSM3727110 ARID1A c.2317C>T p.P773S Substitution - Missense Skin COSM3736917 NIPBL c.2021A>G p.N674S Substitution - Missense Soft_tissue COSM3788468 TRIM33 c.949C>G p.Q317E Substitution - Missense Urinary_tract COSM3939385 ZMYND8 c.2643C>G p.S881S Substitution - coding silent Oesophagus COSM3845315 TAF1 c.4977T>A p.S1659S Substitution - coding silent Breast COSM3906508 SMARCA2 c.568A>G p.K190E Substitution - Missense Stomach COSM3964002 AIRE c.874C>A p.H292N Substitution - Missense Lung COSM3957746 PRMT7 c.394G>T p.G132C Substitution - Missense Lung COSM3974023 UTY c.3455T>C p.V1152A Substitution - Missense Central_nervous_system COSM4003637 CHD1 c.4335G>A p.E1445E Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4000117 PCGF2 c.519C>T p.T173T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4094430 MSH6 c.383G>A p.R128H Substitution - Missense Stomach COSM4144785 JMJD1C c.4328G>A p.G1443D Substitution - Missense Thyroid COSM4170168 TET2 c.3821_3822delAG p.Q1274fs*25 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4386945 NSD1 c.3140C>G p.A1047G Substitution - Missense Lung COSM4383711 MECOM c.2612G>A p.S871N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384286 EZH2 c.1003G>A p.G335R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4391539 TRRAP c.461T>C p.F154S Substitution - Missense Breast COSM4415104 TDRD6 c.1556G>T p.R519I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4519364 PRDM14 c.1006G>A p.E336K Substitution - Missense Skin COSM4425243 SETD5_ENST00000402198 c.3371C>G p.S1124C Substitution - Missense Oesophagus COSM4427680 EP300 c.1667_1668insT p.M556fs*61 Insertion - Frameshift Oesophagus COSM4456605 TRRAP c.10079C>T p.S3360L Substitution - Missense Skin COSM4461199 PRDM5 c.1196C>T p.S399F Substitution - Missense Skin COSM4410156 PRDM2 c.2332C>G p.H778D Substitution - Missense Oesophagus COSM4720068 RAI1 c.5242G>A p.A1748T Substitution - Missense Large_intestine COSM4769354 LMNB1 c.269G>A p.R90Q Substitution - Missense Biliary_tract COSM4665060 BAHD1 c.295delC p.S101fs*107 Deletion - Frameshift Stomach COSM4677499 DIDO1 c.5591C>T p.T1864M Substitution - Missense Large_intestine COSM4612598 RERE c.3588_3593delAGAGCG p.R1200_E1201delRE Deletion - In frame Large_intestine COSM4622641 KMT2D c.4182G>T p.E1394D Substitution - Missense Large_intestine COSM4633065 SMARCA2 c.731C>A p.P244Q Substitution - Missense Large_intestine COSM4619449 SUZ12 c.1079G>A p.R360H Substitution - Missense Large_intestine COSM4755802 CLOCK c.1412A>G p.E471G Substitution - Missense Stomach COSM4787968 BRPF1 c.868A>G p.I290V Substitution - Missense Liver COSM4911226 MECOM c.2600+1G>T p.? Unknown Liver COSM4902510 STK31 c.2879C>T p.S960L Substitution - Missense Skin COSM4909718 CHD1 c.1825G>T p.A609S Substitution - Missense Liver COSM4943485 EPC2 c.77C>T p.P26L Substitution - Missense Liver COSM4933882 TAF1 c.4787T>C p.I1596T Substitution - Missense Liver COSM4877529 KDM3B c.2606G>A p.R869Q Substitution - Missense Prostate COSM4854723 KAT6B c.4855G>A p.V1619I Substitution - Missense Cervix COSM4854811 ACTL6A c.121A>G p.I41V Substitution - Missense Upper_aerodigestive_tract COSM4828448 BRPF3 c.2290C>T p.R764C Substitution - Missense Cervix COSM4878526 NIPBL c.8195G>A p.S2732N Substitution - Missense Prostate COSM4846572 MBD6 c.1055C>G p.S352* Substitution - Nonsense Cervix COSM4819179 SFMBT2 c.1932G>A p.L644L Substitution - coding silent Cervix COSM4968101 BRWD1 c.2272C>T p.R758* Substitution - Nonsense Adrenal_gland COSM5019699 HNF1A c.864G>C p.G288G Substitution - coding silent Soft_tissue COSM5020639 KDM6B c.923C>T p.S308L Substitution - Missense Soft_tissue COSM5015767 FMR1 c.421T>C p.C141R Substitution - Missense Kidney COSM5050402 BTAF1 c.2251C>T p.Q751* Substitution - Nonsense Stomach COSM5052084 ZMYM2 c.597T>C p.D199D Substitution - coding silent Stomach COSM5182970 BAHCC1 c.1080C>T p.A360A Substitution - coding silent Large_intestine COSM5202470 KDM6A c.1079_1080delCT p.Y362fs*1 Deletion - Frameshift Breast COSM5165314 KDM4B c.1528delC p.P511fs*8 Deletion - Frameshift Large_intestine COSM5342890 RAI1 c.328G>A p.G110S Substitution - Missense Large_intestine COSM5404526 SHPRH c.1433G>A p.R478Q Substitution - Missense Skin COSM5407043 KMT2C c.10407T>A p.L3469L Substitution - coding silent Skin COSM5355132 KAT2B c.664G>T p.E222* Substitution - Nonsense Large_intestine COSM5354264 HDAC4 c.107C>T p.T36M Substitution - Missense Large_intestine COSM5495572 LMNA c.795G>A p.K265K Substitution - coding silent Biliary_tract COSM5493717 CXXC1 c.707G>A p.R236H Substitution - Missense Biliary_tract COSM5492985 MBD6 c.837C>T p.P279P Substitution - coding silent Biliary_tract COSM5519009 PHRF1 c.341C>T p.A114V Substitution - Missense Biliary_tract COSM5499717 HDGF c.632C>T p.P211L Substitution - Missense Biliary_tract COSM5487151 AKAP1 c.1954G>A p.V652I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5487164 ATRX c.4081A>G p.K1361E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5482482 ATRX c.6486A>G p.V2162V Substitution - coding silent Large_intestine COSM5443897 CHD7 c.6604G>C p.E2202Q Substitution - Missense Oesophagus COSM5459682 TBL1XR1 c.973T>G p.C325G Substitution - Missense Large_intestine COSM5546651 PHF6 c.384C>G p.C128W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5655075 DHX30 c.1739G>A p.R580Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5724266 NCOR1 c.55C>T p.R19C Substitution - Missense Skin COSM5720880 HDAC9 c.500G>A p.G167E Substitution - Missense Skin COSM5722704 CBX8 c.433G>A p.E145K Substitution - Missense Skin COSM5715829 ZMYM3 c.3450C>T p.N1150N Substitution - coding silent Skin COSM5748960 ZMYM3 c.2206C>T p.R736C Substitution - Missense Pancreas COSM5603084 CBX8 c.629C>T p.P210L Substitution - Missense Skin COSM5607837 ARID1A c.1354C>T p.P452S Substitution - Missense Skin COSM5752502 PHF6 c.223delA p.R76fs*5 Deletion - Frameshift Breast COSM5711643 KDM6A c.664C>A p.H222N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5569557 GABRG1 c.740C>T p.T247I Substitution - Missense Prostate COSM5574328 KMT2D c.9265_9265delG p.Q3090fs*32 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5776285 MBD4 c.1669C>G p.H557D Substitution - Missense Breast COSM5778419 EP300 c.6418G>A p.V2140I Substitution - Missense Breast COSM5788542 KMT2C c.2465A>G p.K822R Substitution - Missense Breast COSM5926701 TAF1L c.803G>A p.G268E Substitution - Missense Skin COSM6016503 NCOR1 c.2756C>T p.P919L Substitution - Missense Skin COSM5973391 BAZ2B c.708G>A p.K236K Substitution - coding silent Upper_aerodigestive_tract COSM6008934 KMT2D c.3666C>G p.Y1222* Substitution - Nonsense Large_intestine COSM6016788 BPTF c.5929A>G p.T1977A Substitution - Missense Skin COSM52865 PBRM1 c.1186delT p.C396fs*8 Deletion - Frameshift Kidney COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM5031029 KMT2D c.? p.?fs Frameshift Central_nervous_system COSM133742 DNMT3A c.? p.W893S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM1716774 TET2 c.? p.F1104fs*2 Frameshift Haematopoietic_and_lymphoid_tissue COSM132980 ASXL1 c.? p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM329085 TET2 c.4513G>A p.A1505T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM696453 PHF11 c.550C>A p.L184I Substitution - Missense Lung COSM4185565 BAP1 c.13T>A p.W5R Substitution - Missense Kidney COSM4787506 RNF134 c.763G>A p.A255T Substitution - Missense Liver COSM937185 EP400 c.7459G>A p.A2487T Substitution - Missense Large_intestine COSM3405441 AIRE c.352G>A p.V118I Substitution - Missense Central_nervous_system COSM1361826 HDAC7 c.652G>A p.G218S Substitution - Missense Large_intestine COSM340316 KIAA1045 c.644-1G>C p.? Unknown Lung COSM3713909 HDAC6 c.3095C>T p.P1032L Substitution - Missense Upper_aerodigestive_tract COSM1698984 TRRAP c.7846C>T p.P2616S Substitution - Missense Skin COSM3453546 RSF1 c.3889C>T p.R1297C Substitution - Missense Skin COSM5616896 NCOR1 c.5388-4A>G p.? Unknown Lung COSM1626134 ATRX c.5270A>C p.E1757A Substitution - Missense Liver COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM5496161 SND1 c.44C>T p.A15V Substitution - Missense Biliary_tract COSM1663335 PBRM1 c.2627G>A p.R876H Substitution - Missense Kidney COSM3537409 KDM4B c.2856C>T p.F952F Substitution - coding silent Skin COSM1666674 SETBP1 c.? p.S869G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3828007 NIPBL c.4237C>T p.Q1413* Substitution - Nonsense Breast COSM4564313 TRRAP c.11142_11143GG>AA p.V3715I Substitution - Missense Skin COSM1659001 KDM5A c.2928C>A p.S976R Substitution - Missense Salivary_gland COSM925904 PRMT3 c.949C>T p.H317Y Substitution - Missense Endometrium COSM213488 MBD1 c.302G>C p.G101A Substitution - Missense Breast COSM487169 GTF3C4 c.2160A>G p.E720E Substitution - coding silent Kidney COSM4659178 ACTR6 c.396A>G p.A132A Substitution - coding silent Large_intestine COSM5824322 YY1 c.240C>A p.H80Q Substitution - Missense Liver COSM3991754 NCOA3 c.357G>A p.Q119Q Substitution - coding silent Kidney COSM4998182 TRIM33 c.1241A>C p.N414T Substitution - Missense Pancreas COSM5880075 PHF6 c.834G>A p.M278I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3142261 CHD1 c.4025T>C p.M1342T Substitution - Missense Large_intestine COSM4954651 MBD5 c.967A>G p.I323V Substitution - Missense Liver COSM4687306 GLYATL1 c.584G>A p.S195N Substitution - Missense Large_intestine COSM4954983 INO80B c.843G>T p.T281T Substitution - coding silent Liver COSM5506012 DIDO1 c.4927C>T p.R1643C Substitution - Missense Biliary_tract COSM1087574 KMT2C c.7365T>G p.Y2455* Substitution - Nonsense Endometrium COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5894236 TDRD5 c.1753C>T p.P585S Substitution - Missense Skin COSM1716789 TET2 c.2440C>T p.R814C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM3984297 ASH1L c.1242A>G p.A414A Substitution - coding silent Kidney COSM5715614 NIPBL c.1978G>T p.E660* Substitution - Nonsense Skin COSM1344639 RERE c.248delA p.K83fs*12 Deletion - Frameshift Large_intestine COSM5157581 INO80B c.916C>T p.R306C Substitution - Missense Breast COSM4426864 KMT2D c.6125C>G p.S2042* Substitution - Nonsense Oesophagus COSM1701904 BRD3 c.889G>A p.E297K Substitution - Missense Skin COSM1122973 KDM5C c.471C>T p.Y157Y Substitution - coding silent Bone COSM4387421 BAP1 c.82C>T p.Q28* Substitution - Nonsense Bone COSM1492046 ZMYM6 c.69T>A p.I23I Substitution - coding silent Kidney COSM249685 NCOR1 c.448G>A p.G150R Substitution - Missense Central_nervous_system COSM1080053 CDYL c.1192G>A p.V398I Substitution - Missense Endometrium COSM4039479 KDM2B c.1327C>T p.R443W Substitution - Missense Stomach COSM4856121 KMT2D c.10905G>A p.Q3635Q Substitution - coding silent Cervix COSM85916 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85916 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3349886 PHF1 c.224delG p.W75fs*1 Deletion - Frameshift Upper_aerodigestive_tract COSM4384594 KMT2A c.4738G>A p.D1580N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5621506 PHRF1 c.2992T>C p.S998P Substitution - Missense Soft_tissue COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM5660557 SMYD1 c.443delG p.V149fs*28 Deletion - Frameshift Soft_tissue COSM5502694 SMARCC1 c.1089G>A p.E363E Substitution - coding silent Biliary_tract COSM4432781 BRPF3 c.26G>A p.R9Q Substitution - Missense Oesophagus COSM4102319 PRMT2 c.164A>G p.E55G Substitution - Missense Stomach COSM1222801 PWWP2B c.1449G>T p.E483D Substitution - Missense Large_intestine COSM5025098 CREBBP c.5790delC p.T1931fs*45 Deletion - Frameshift Breast COSM1425740 SETD5_ENST00000402198 c.1334G>A p.R445Q Substitution - Missense Large_intestine COSM1047003 PHF7 c.634G>T p.E212* Substitution - Nonsense Endometrium COSM150428 KMT2C c.2958A>G p.P986P Substitution - coding silent Soft_tissue COSM4723972 SCMH1 c.27C>T p.N9N Substitution - coding silent Large_intestine COSM5698597 UHRF2 c.1377G>T p.W459C Substitution - Missense Soft_tissue COSM4139827 ZBTB4 c.508C>G p.L170V Substitution - Missense Ovary COSM150428 KMT2C c.2958A>G p.P986P Substitution - coding silent Central_nervous_system COSM88790 EP300 c.4408delA p.M1470fs*26 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1474801 TAF3 c.1171A>G p.I391V Substitution - Missense Breast COSM955456 BAZ1A c.3753C>T p.D1251D Substitution - coding silent Endometrium COSM3650083 CHD7 c.6710C>T p.S2237F Substitution - Missense Skin COSM3362146 KAT2A c.2231T>A p.I744N Substitution - Missense Kidney COSM1107714 SMARCA2 c.1738G>A p.D580N Substitution - Missense Endometrium COSM1084548 ING3 c.630_641del12 p.Y211_G214delYNIG Deletion - In frame Endometrium COSM3807464 JMJD1C c.4681G>C p.D1561H Substitution - Missense Breast COSM1220318 PHC1 c.2419G>A p.A807T Substitution - Missense Large_intestine COSM69843 BPTF c.3750G>T p.K1250N Substitution - Missense Ovary COSM5055849 CHD3 c.5836G>A p.A1946T Substitution - Missense Stomach COSM1716684 ATRX c.3697_3698delTT p.L1233fs*15 Deletion - Frameshift Central_nervous_system COSM3793176 ZMYM2 c.2630C>T p.T877I Substitution - Missense Urinary_tract COSM3728755 TDRKH c.289C>T p.R97* Substitution - Nonsense Stomach COSM4807885 SETD2 c.5797G>T p.E1933* Substitution - Nonsense Pancreas COSM3814727 BAZ1A c.2194G>A p.E732K Substitution - Missense Breast COSM335729 STK31 c.68A>C p.Q23P Substitution - Missense Lung COSM1008147 BAZ2B c.5389T>G p.L1797V Substitution - Missense Endometrium COSM231561 DNMT3A c.1656_1663CAACTGCT>A p.N552fs*97 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM2221849 TRIM66 c.1416C>T p.P472P Substitution - coding silent Skin COSM94139 DNMT1 c.4652G>A p.R1551Q Substitution - Missense Breast COSM4773271 DNMT1 c.3446G>T p.G1149V Substitution - Missense Stomach COSM2149335 CDYL2 c.1214C>T p.A405V Substitution - Missense Central_nervous_system COSM1326363 SP140_ENST00000392045 c.1432T>A p.C478S Substitution - Missense Ovary COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4968097 ATAD2 c.2605G>T p.V869F Substitution - Missense Adrenal_gland COSM3688201 KDM5A c.2087G>A p.R696Q Substitution - Missense Large_intestine COSM5017357 EP400 c.92_93insC p.N33fs*32 Insertion - Frameshift Soft_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1667712 MTF2 c.1721G>A p.R574Q Substitution - Missense Large_intestine COSM1623364 TRRAP c.10468C>T p.R3490W Substitution - Missense Liver COSM5347588 PHF16 c.1290_1293delCTAT p.Y431fs*5 Deletion - Frameshift Liver COSM473501 CHD3 c.4545G>A p.P1515P Substitution - coding silent Stomach COSM2007481 KMT2D c.213C>T p.C71C Substitution - coding silent Adrenal_gland COSM3567429 MBD5 c.50C>T p.P17L Substitution - Missense Skin COSM4387144 HDAC5 c.1918C>T p.Q640* Substitution - Nonsense Lung COSM3741888 SRCAP c.133G>A p.G45S Substitution - Missense Large_intestine COSM1074188 SHPRH c.3595A>C p.T1199P Substitution - Missense Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33320 PHF7 c.1107G>C p.K369N Substitution - Missense Breast COSM4072240 SETBP1 c.2382C>T p.S794S Substitution - coding silent Stomach COSM5681680 GTF3C1 c.3351_3357delAGGGCTC p.G1118fs*35 Deletion - Frameshift Soft_tissue COSM3388425 ASXL3 c.2164C>T p.Q722* Substitution - Nonsense Pancreas COSM2036428 PHRF1 c.1187C>T p.T396M Substitution - Missense Stomach COSM176178 MTF2 c.59G>A p.R20Q Substitution - Missense Large_intestine COSM2965310 KDM6A c.493C>T p.R165* Substitution - Nonsense Oesophagus COSM3322598 PHF19 c.1032A>C p.P344P Substitution - coding silent Breast COSM3089595 EHMT1 c.142G>A p.V48I Substitution - Missense Large_intestine COSM5691532 PHF14 c.329G>C p.R110T Substitution - Missense Soft_tissue COSM4377010 ZBTB33 c.1707A>G p.I569M Substitution - Missense Large_intestine COSM908326 RBBP4 c.740C>T p.A247V Substitution - Missense Endometrium COSM4454024 HNF1A c.389A>C p.Q130P Substitution - Missense Skin COSM1217356 NIPBL c.5044C>T p.R1682* Substitution - Nonsense Large_intestine COSM1618462 PRMT10 c.1222A>G p.I408V Substitution - Missense Liver COSM3668071 CBX4 c.1560C>A p.A520A Substitution - coding silent Liver COSM35408 KAT6B c.3291A>G p.E1097E Substitution - coding silent Central_nervous_system COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM3524734 AP001011.3_ENST00000320876 c.2286T>C p.I762I Substitution - coding silent Skin COSM917335 ZMYND11 c.258T>C p.C86C Substitution - coding silent Skin COSM1319506 PHF6 c.636_637insGGATA p.F214fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM328564 NIPBL c.423T>A p.N141K Substitution - Missense Kidney COSM468037 EP400 c.8226A>G p.Q2742Q Substitution - coding silent Oesophagus COSM1439157 BRD9 c.595G>A p.A199T Substitution - Missense Large_intestine COSM4899796 TRRAP c.454C>T p.H152Y Substitution - Missense Skin COSM5478494 PRDM16 c.994G>A p.D332N Substitution - Missense Large_intestine COSM3501435 TP53BP1 c.878A>T p.K293M Substitution - Missense Skin COSM289706 KDM5A c.3715C>T p.R1239W Substitution - Missense Large_intestine COSM1038082 MBD4 c.404C>A p.S135Y Substitution - Missense Endometrium COSM5479022 CHD2 c.1008A>C p.K336N Substitution - Missense Large_intestine COSM4402711 PHF20 c.2936C>T p.P979L Substitution - Missense Skin COSM1741793 ASXL1 c.3721G>A p.E1241K Substitution - Missense Urinary_tract COSM3021831 JARID2 c.1730T>A p.V577D Substitution - Missense Large_intestine COSM5134434 EYA3 c.1401_1404delACTT p.L467fs*10 Deletion - Frameshift Large_intestine COSM431586 MBD6 c.2662C>T p.R888* Substitution - Nonsense Breast COSM5734307 TDRD6 c.457G>A p.D153N Substitution - Missense Small_intestine COSM5009621 EP300 c.2989A>G p.I997V Substitution - Missense Large_intestine COSM4015092 JMJD1C c.6212T>C p.V2071A Substitution - Missense Stomach COSM86979 IKZF1 c.41-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1669916 ING5 c.40A>G p.I14V Substitution - Missense Large_intestine COSM3883750 TRRAP c.7502C>T p.P2501L Substitution - Missense Stomach COSM150182 L3MBTL3 c.1972C>T p.R658W Substitution - Missense Stomach COSM3554898 L3MBTL2 c.1200C>T p.H400H Substitution - coding silent Skin COSM4126229 PRDM8 c.1866C>T p.P622P Substitution - coding silent Stomach COSM5677186 KAT2A c.228G>T p.P76P Substitution - coding silent Soft_tissue COSM3508229 GTF3C1 c.2625G>A p.T875T Substitution - coding silent Skin COSM4054483 INOC1 c.86T>G p.L29R Substitution - Missense Stomach COSM2245990 ARID4A c.1205C>T p.S402L Substitution - Missense Large_intestine COSM3640352 BAZ1B c.611C>T p.S204L Substitution - Missense Skin COSM918656 ERCC6 c.3260G>A p.R1087Q Substitution - Missense Endometrium COSM3906846 TAF1L c.2468G>A p.R823Q Substitution - Missense Stomach COSM1159292 KMT2C c.12469T>C p.L4157L Substitution - coding silent Pancreas COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1183572 ARID2 c.881G>T p.R294I Substitution - Missense Large_intestine COSM5750873 SMARCB1 c.235C>T p.H79Y Substitution - Missense Stomach COSM2772176 TAF1L c.5337C>T p.D1779D Substitution - coding silent Prostate COSM3525854 SETBP1 c.1697C>T p.P566L Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4581818 CHD6 c.3531T>C p.S1177S Substitution - coding silent Bone COSM5453041 KMT2C c.13199G>A p.R4400Q Substitution - Missense Large_intestine COSM4593173 CBX4 c.691A>C p.N231H Substitution - Missense Upper_aerodigestive_tract COSM1330978 MYST3 c.4261G>C p.D1421H Substitution - Missense Ovary COSM1246000 BAZ2B c.5565C>T p.D1855D Substitution - coding silent Oesophagus COSM5037984 CHD7 c.4394G>A p.R1465Q Substitution - Missense Skin COSM461417 CHD7 c.6097G>C p.D2033H Substitution - Missense Cervix COSM3824890 TET2 c.1276C>G p.L426V Substitution - Missense Breast COSM1424552 PBRM1 c.829A>T p.K277* Substitution - Nonsense Thymus COSM4725213 SETDB2 c.8delA p.N5fs*11 Deletion - Frameshift Large_intestine COSM4450988 PRDM5 c.1007A>C p.K336T Substitution - Missense Skin COSM5653280 KMT2C c.6284G>T p.S2095I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3373847 PRDM9 c.2599C>T p.R867W Substitution - Missense Thyroid COSM1173301 KMT2C c.14412delC p.I4805fs*5 Deletion - Frameshift Oesophagus COSM1606212 KMT2D c.2583G>A p.Q861Q Substitution - coding silent Liver COSM271392 KMT2D c.3677G>T p.G1226V Substitution - Missense Large_intestine COSM422772 PBRM1 c.1443+1G>T p.? Unknown Kidney COSM5505697 ASH1L c.2954A>G p.K985R Substitution - Missense Biliary_tract COSM1361989 KMT2D c.10798A>G p.M3600V Substitution - Missense Large_intestine COSM3512608 CDYL2 c.730G>A p.E244K Substitution - Missense Skin COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1716169 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM84842 WHSC1 c.3873T>G p.P1291P Substitution - coding silent Pancreas COSM3376943 RBBP5 c.1437C>G p.S479S Substitution - coding silent Pancreas COSM5927976 SCML2 c.201G>A p.M67I Substitution - Missense Skin COSM3981493 MGA c.447A>T p.E149D Substitution - Missense Ovary COSM4152566 ZMYM3 c.491C>T p.S164F Substitution - Missense Kidney COSM4516888 PHF20 c.2462_2463CC>TT p.P821L Substitution - Missense Skin COSM4669579 CBX7 c.615C>T p.A205A Substitution - coding silent Large_intestine COSM4748644 SMARCA2 c.4396G>A p.D1466N Substitution - Missense Stomach COSM1312879 KMT2C c.4045C>T p.R1349* Substitution - Nonsense Urinary_tract COSM5945314 CREBBP c.5566C>T p.Q1856* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5028033 CHD2 c.2065C>G p.L689V Substitution - Missense Breast COSM292606 SMARCC1 c.2860G>A p.A954T Substitution - Missense Skin COSM1210669 ING1 c.674G>A p.G225D Substitution - Missense Large_intestine COSM22645 MEN1 c.76G>A p.E26K Substitution - Missense Parathyroid COSM1113713 MSL3 c.1262G>T p.R421I Substitution - Missense Endometrium COSM3358541 PBRM1 c.1743_1747delTGGTG p.G582fs*18 Deletion - Frameshift Kidney COSM1716840 ASXL1 c.? p.S847fs*4 Frameshift Haematopoietic_and_lymphoid_tissue COSM4977094 HDAC4 c.37C>T p.R13* Substitution - Nonsense Oesophagus COSM255213 MEN1 c.1621A>G p.T541A Substitution - Missense Soft_tissue COSM2131875 TRDMT1 c.628G>A p.V210I Substitution - Missense Skin COSM1302000 GLYR1 c.457G>A p.E153K Substitution - Missense Breast COSM3936051 SMARCC2 c.2920C>G p.P974A Substitution - Missense Oesophagus COSM1449464 KMT2C c.1533G>A p.E511E Substitution - coding silent Large_intestine COSM1163361 WHSC1 c.4020_4021insC p.E1344fs*>23 Insertion - Frameshift Pancreas COSM724825 DIDO1 c.1860G>T p.A620A Substitution - coding silent Lung COSM680967 ZMYM1 c.2250G>T p.L750F Substitution - Missense Lung COSM1027423 NCOA5 c.1732C>T p.H578Y Substitution - Missense Endometrium COSM3832538 STK31 c.2309T>G p.V770G Substitution - Missense Breast COSM5878926 TET2 c.546_547insA p.N183fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4613281 TRIM66 c.1247_1248insC p.Q417fs*75 Insertion - Frameshift Large_intestine COSM2931223 DIDO1 c.1425_1426insA p.E476fs*15 Insertion - Frameshift Large_intestine COSM4449648 ZMYM2 c.2916delA p.I973fs*6 Deletion - Frameshift Skin COSM166345 DNMT3A c.? p.? Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1211726 KDM3B c.2860C>T p.R954C Substitution - Missense Large_intestine COSM5982244 KMT2C c.3977T>A p.L1326* Substitution - Nonsense Upper_aerodigestive_tract COSM4603245 PCGF6 c.84_85insGCCTCC p.P28_V29insAS Insertion - In frame Upper_aerodigestive_tract COSM237785 MUM1 c.1501+4C>T p.? Unknown Prostate COSM4949888 ARID1A c.128_129insGGC p.A45_E46insA Insertion - In frame Liver COSM3427747 PBRM1 c.1381C>T p.R461C Substitution - Missense Large_intestine COSM380128 NCOR1 c.5582G>A p.S1861N Substitution - Missense Lung COSM4570547 PRDM11 c.389T>G p.V130G Substitution - Missense Skin COSM1236407 CREBBP c.4681G>T p.E1561* Substitution - Nonsense Autonomic_ganglia COSM1034993 PHF21B c.163G>A p.V55I Substitution - Missense Endometrium COSM468715 MBD6 c.2239G>T p.D747Y Substitution - Missense Kidney COSM918663 ERCC6 c.2408G>T p.R803I Substitution - Missense Endometrium COSM1463735 PHF2 c.2850_2851insA p.S954fs*9 Insertion - Frameshift Large_intestine COSM4384272 EZH2 c.1708C>T p.Q570* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5751594 KDM6A c.3333_3334insG p.V1112fs*39 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1253338 GLYATL1 c.250C>T p.Q84* Substitution - Nonsense Oesophagus COSM5925071 SETD2 c.3797C>T p.S1266F Substitution - Missense Skin COSM1471942 TIF1 c.117G>A p.P39P Substitution - coding silent Prostate COSM4582244 SMARCB1 c.157delC p.R53fs*2 Deletion - Frameshift Bone COSM3630087 PHIP c.3623C>T p.T1208I Substitution - Missense Skin COSM1334660 ASH1L c.3665delA p.K1222fs*11 Deletion - Frameshift Large_intestine COSM53040 EZH2 c.2080C>T p.H694Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1640247 TP53BP1 c.1375-2A>G p.? Unknown Stomach COSM1217934 NSD1 c.5785G>T p.G1929W Substitution - Missense Large_intestine COSM1735694 KMT2D c.? p.? Substitution - Missense Skin COSM4771936 ARID1A c.360_367delGCCCGGCG p.P121fs*276 Deletion - Frameshift Stomach COSM1221867 PRDM1 c.835G>A p.A279T Substitution - Missense Large_intestine COSM5388127 SETBP1 c.2368C>T p.L790L Substitution - coding silent Skin COSM1727667 BAHCC1 c.3712G>A p.E1238K Substitution - Missense Liver COSM1343980 PHF13 c.830G>A p.C277Y Substitution - Missense Large_intestine COSM4451285 BAZ1A c.1143A>G p.L381L Substitution - coding silent Skin COSM5453007 SP140_ENST00000392045 c.1450G>T p.V484L Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM1196491 ARID2 c.1354A>G p.M452V Substitution - Missense Lung COSM5600455 SETD2 c.3866G>A p.S1289N Substitution - Missense Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5516777 BPTF c.1958delG p.R653fs*12 Deletion - Frameshift Biliary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM953996 MTA1 c.33C>T p.Y11Y Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3709944 SFMBT2 c.236A>C p.K79T Substitution - Missense Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5994070 BAZ2B c.5551T>C p.F1851L Substitution - Missense Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4384157 MLL5 c.2150T>C p.V717A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5053713 RERE c.534C>T p.D178D Substitution - coding silent Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3749492 DOT1L c.4156G>A p.G1386S Substitution - Missense Large_intestine COSM6008295 BPTF c.4005G>C p.E1335D Substitution - Missense Prostate COSM5620942 HDAC7 c.2763G>A p.E921E Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4693805 JARID2 c.2050C>A p.L684M Substitution - Missense Large_intestine COSM5037164 ZMYND8 c.478G>A p.E160K Substitution - Missense Oesophagus COSM41912 TET2 c.? p.L590_H650del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM2260263 MTF2 c.577G>A p.A193T Substitution - Missense Large_intestine COSM3461513 KMT2D c.13921C>T p.P4641S Substitution - Missense Skin COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM4693803 JARID2 c.1752C>T p.F584F Substitution - coding silent Large_intestine COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4894362 NIPBL c.1459G>A p.E487K Substitution - Missense Skin COSM1081856 PHIP c.3561C>A p.P1187P Substitution - coding silent Endometrium COSM4717437 PRDM1 c.1564G>A p.G522S Substitution - Missense Large_intestine COSM40827 KDM3B c.237G>A p.W79* Substitution - Nonsense Central_nervous_system COSM4979793 SETD2 c.5959C>T p.R1987W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1009565 HAT1 c.922G>T p.G308* Substitution - Nonsense Endometrium COSM909550 SCMH1 c.873T>C p.D291D Substitution - coding silent Endometrium COSM997 SMARCB1 c.1102C>T p.Q368* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1002 SMARCB1 c.118C>T p.R40* Substitution - Nonsense Central_nervous_system COSM30579 SMARCA4 c.3557C>T p.A1186V Substitution - Missense Large_intestine COSM25922 MSH6 c.3581_3582insT p.L1194fs*3 Insertion - Frameshift Large_intestine COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM51418 ARID1A c.5164C>T p.R1722* Substitution - Nonsense Stomach COSM94711 KMT2A c.9577G>A p.D3193N Substitution - Missense Breast COSM96378 BAP1 c.438-24_438-2del p.? Unknown Pleura COSM144171 ARID1A c.4270C>T p.Q1424* Substitution - Nonsense Breast COSM162498 KMT2A c.1291G>A p.D431N Substitution - Missense Breast COSM228823 TDRD5 c.2161-1G>A p.? Unknown Skin COSM231556 DNMT3A c.1640T>A p.L547H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM255145 MEN1 c.1341_1341delT p.F447fs*11 Deletion - Frameshift Parathyroid COSM255588 KDM4C c.843delT p.F281fs*35 Deletion - Frameshift Central_nervous_system COSM272998 NCOA7 c.2377C>G p.R793G Substitution - Missense Large_intestine COSM273240 SHPRH c.1690T>C p.Y564H Substitution - Missense Large_intestine COSM327313 PHF6 c.346C>T p.R116* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM351006 WHSC1 c.1957G>T p.V653F Substitution - Missense Adrenal_gland COSM379334 WHSC1 c.3295G>A p.E1099K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1496557 KMT2C c.11262C>T p.S3754S Substitution - coding silent Kidney COSM418356 LMNB2 c.1299C>T p.G433G Substitution - coding silent Urinary_tract COSM422751 PBRM1 c.236G>T p.R79I Substitution - Missense Kidney COSM438020 AP001011.3_ENST00000320876 c.2509G>T p.V837F Substitution - Missense Breast COSM430522 HNF1A c.79A>C p.I27L Substitution - Missense Soft_tissue COSM432190 MPHOSPH8 c.1691C>A p.A564E Substitution - Missense Breast COSM468922 APOBEC1 c.27C>T p.T9T Substitution - coding silent Kidney COSM977550 SUZ12 c.546T>C p.V182V Substitution - coding silent Endometrium COSM480353 PBRM1 c.2548C>T p.R850* Substitution - Nonsense Kidney COSM1046985 BAP1 c.2099G>A p.R700Q Substitution - Missense Stomach COSM1030693 BRWD1 c.4085C>A p.T1362K Substitution - Missense Endometrium COSM939212 KDM5A c.3091C>T p.R1031C Substitution - Missense Large_intestine COSM939499 ARID2 c.1567T>G p.F523V Substitution - Missense Endometrium COSM757658 ZMYM3 c.1286A>C p.H429P Substitution - Missense Lung COSM740284 ARID1B c.3797G>T p.G1266V Substitution - Missense Lung COSM907766 ARID1A c.6806C>A p.S2269* Substitution - Nonsense Kidney COSM897115 LMNA c.265C>A p.R89S Substitution - Missense Endometrium COSM929014 PHRF1 c.446G>A p.R149Q Substitution - Missense Endometrium COSM999864 KDM4B c.2661C>T p.G887G Substitution - coding silent Large_intestine COSM961509 MGA c.3463C>T p.R1155* Substitution - Nonsense Skin COSM961516 MGA c.4138C>T p.R1380* Substitution - Nonsense Endometrium COSM1034577 EP300 c.6250T>G p.F2084V Substitution - Missense Endometrium COSM1076382 KDM1B c.861C>T p.G287G Substitution - coding silent Endometrium COSM1061321 KDM3B c.1497G>A p.E499E Substitution - coding silent Endometrium COSM1114824 SMARCA1 c.149C>T p.T50M Substitution - Missense Large_intestine COSM1106541 BRD3 c.1659C>T p.G553G Substitution - coding silent Endometrium COSM1080970 PHF3 c.5600G>A p.R1867H Substitution - Missense Endometrium COSM1230113 TP53BP1 c.5812C>T p.Q1938* Substitution - Nonsense Large_intestine COSM1265358 SETDB1 c.2782C>T p.R928W Substitution - Missense Oesophagus COSM1220371 PHF21A c.1196C>T p.P399L Substitution - Missense Large_intestine COSM1294788 TTF2 c.2591C>G p.S864* Substitution - Nonsense Urinary_tract COSM1378313 CHD9 c.2570G>A p.G857D Substitution - Missense Large_intestine COSM1372822 MGA c.3738delA p.E1249fs*42 Deletion - Frameshift Large_intestine COSM1411116 DNMT3B c.310C>T p.R104* Substitution - Nonsense Large_intestine COSM1416294 CBX6 c.370C>T p.R124C Substitution - Missense Large_intestine COSM1479272 NCOR1 c.2079G>T p.E693D Substitution - Missense Breast COSM1483830 DIDO1 c.3482T>G p.L1161R Substitution - Missense Breast COSM1620277 NIPBL c.8131A>G p.I2711V Substitution - Missense Liver COSM1623357 TRRAP c.6768C>T p.I2256I Substitution - coding silent Liver COSM1637167 SP140_ENST00000392045 c.2161G>A p.V721M Substitution - Missense Bone COSM1636568 SMC1A c.3298C>G p.P1100A Substitution - Missense Liver COSM1639853 ZMYM1 c.272G>A p.G91D Substitution - Missense Stomach COSM1675286 JMJD1C c.2206A>G p.K736E Substitution - Missense Large_intestine COSM1645228 PRDM16 c.2447A>G p.N816S Substitution - Missense Large_intestine COSM1641322 DNMT3B c.1006G>C p.A336P Substitution - Missense Stomach COSM1708030 RTF1 c.1141C>T p.P381S Substitution - Missense Skin COSM1664171 SIRT7 c.433C>G p.P145A Substitution - Missense Kidney COSM1756196 KDM4C c.2815G>A p.E939K Substitution - Missense Urinary_tract COSM1983026 LMNA c.1300G>A p.A434T Substitution - Missense Large_intestine COSM2151193 CDYL2 c.483C>T p.A161A Substitution - coding silent Central_nervous_system COSM2208080 GATAD2B c.717G>A p.L239L Substitution - coding silent Soft_tissue COSM2889623 DNMT3B c.2272G>A p.D758N Substitution - Missense Large_intestine COSM2965391 KDM6A c.2416G>A p.A806T Substitution - Missense Upper_aerodigestive_tract COSM2965470 KDM6A c.3804A>G p.V1268V Substitution - coding silent Stomach COSM3113477 SETD1A c.618C>T p.G206G Substitution - coding silent Large_intestine COSM3097144 ATRX c.1886T>G p.L629R Substitution - Missense Large_intestine COSM3160225 PHF3 c.106G>A p.A36T Substitution - Missense Upper_aerodigestive_tract COSM3174787 SIRT5 c.624A>G p.E208E Substitution - coding silent Bone COSM3363645 CBX6 c.987G>A p.P329P Substitution - coding silent Kidney COSM3371680 CHD6 c.7409A>G p.N2470S Substitution - Missense Thyroid COSM3372445 BAZ2B c.1590T>C p.P530P Substitution - coding silent Prostate COSM3501426 TP53BP1 c.2261C>T p.S754F Substitution - Missense Skin COSM3487956 PRDM16 c.421G>A p.E141K Substitution - Missense Skin COSM3488228 PRDM16 c.2175C>T p.F725F Substitution - coding silent Skin COSM3464575 YEATS4 c.375C>A p.T125T Substitution - coding silent Skin COSM3624828 EHMT2 c.2865G>A p.E955E Substitution - coding silent Skin COSM3627952 TDRD6 c.1724C>T p.S575L Substitution - Missense Skin COSM3592031 KAT2B c.2416G>T p.E806* Substitution - Nonsense Skin COSM3545800 PHF20 c.791C>T p.P264L Substitution - Missense Skin COSM3517985 HDAC5 c.2287G>C p.D763H Substitution - Missense Skin COSM3524742 SMCHD1 c.759A>T p.A253A Substitution - coding silent Skin COSM3662943 TIF1 c.1893G>A p.V631V Substitution - coding silent Liver COSM3660652 PHF7 c.838G>A p.G280R Substitution - Missense Liver COSM3697158 NSD1 c.5950C>T p.R1984* Substitution - Nonsense Upper_aerodigestive_tract COSM3687861 EP400 c.3480G>A p.T1160T Substitution - coding silent Large_intestine COSM3722258 KDM3B c.4414C>T p.R1472* Substitution - Nonsense Upper_aerodigestive_tract COSM3719699 HDGFL1 c.227G>A p.S76N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3755856 ZBTB4 c.1682A>G p.N561S Substitution - Missense Large_intestine COSM3763348 MYST3 c.2982G>A p.P994P Substitution - coding silent Soft_tissue COSM3791028 BTAF1 c.3842A>G p.N1281S Substitution - Missense Breast COSM3855049 NIPBL c.7219C>T p.R2407* Substitution - Nonsense Stomach COSM3865344 PRDM16 c.3126G>A p.G1042G Substitution - coding silent Skin COSM3841209 ZMYND8 c.1542C>G p.F514L Substitution - Missense Breast COSM3824401 ACTR8 c.1798G>A p.E600K Substitution - Missense Breast COSM3923312 HDAC9 c.1545C>T p.D515D Substitution - coding silent Skin COSM4031510 PRDM16 c.831C>T p.S277S Substitution - coding silent Stomach COSM4039463 KDM2B c.2860A>G p.I954V Substitution - Missense Stomach COSM4070392 CHD3 c.4287G>A p.M1429I Substitution - Missense Stomach COSM4152451 SETD2 c.5827G>T p.E1943* Substitution - Nonsense Kidney COSM4185512 PBRM1 c.4275delA p.A1426fs*6 Deletion - Frameshift Kidney COSM4383881 TET2 c.2953delC p.P985fs*22 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4384296 EZH2 c.458A>G p.Y153C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4509509 EZH1 c.809C>T p.P270L Substitution - Missense Skin COSM4507964 MBD6 c.761C>A p.P254Q Substitution - Missense Skin COSM4497598 SETD1B c.1650C>T p.D550D Substitution - coding silent Skin COSM4590278 KDM2A c.310A>G p.S104G Substitution - Missense Upper_aerodigestive_tract COSM4467209 KMT2D c.13963C>T p.P4655S Substitution - Missense Skin COSM4479061 TCF20 c.2290C>T p.P764S Substitution - Missense Skin COSM4737272 TTF2 c.3476delT p.F1160fs*>3 Deletion - Frameshift Large_intestine COSM4763220 BAZ2B c.4994G>A p.G1665D Substitution - Missense Stomach COSM4615132 CHD8 c.1752delA p.K584fs*8 Deletion - Frameshift Large_intestine COSM4629915 ATF7IP c.1786C>T p.Q596* Substitution - Nonsense Large_intestine COSM4799310 TRRAP c.151-1G>A p.? Unknown Liver COSM4808475 KMT2C c.14644-6G>A p.? Unknown Pancreas COSM4881048 PHRF1 c.421-7C>T p.? Unknown Prostate COSM4890491 PHF2 c.2727G>T p.R909S Substitution - Missense Upper_aerodigestive_tract COSM4934610 RAI1 c.4620C>A p.L1540L Substitution - coding silent Liver COSM4925566 ALKBH3 c.547A>T p.N183Y Substitution - Missense Liver COSM4846688 CHD1 c.1954G>C p.E652Q Substitution - Missense Cervix COSM4819531 ZBTB38 c.3257G>C p.R1086T Substitution - Missense Cervix COSM4960848 KDM4C c.2610G>A p.V870V Substitution - coding silent Liver COSM4996022 CHD6 c.3117A>T p.E1039D Substitution - Missense Upper_aerodigestive_tract COSM5026275 PRDM9 c.516_518delGAA p.K174delK Deletion - In frame Breast COSM5105006 KDM4B c.3220C>T p.R1074W Substitution - Missense Large_intestine COSM5095405 KDM4A c.2226C>T p.S742S Substitution - coding silent Thymus COSM5202462 SMARCA2 c.1664_1666delAGA p.K558delK Deletion - In frame Breast COSM5041348 ATF2 c.1156G>C p.D386H Substitution - Missense Liver COSM5361532 ATF7IP c.3645G>T p.K1215N Substitution - Missense Large_intestine COSM5356973 HDAC3 c.234G>A p.M78I Substitution - Missense Large_intestine COSM5515867 HDAC6 c.401G>A p.R134Q Substitution - Missense Biliary_tract COSM5516089 CHD6 c.5391G>C p.Q1797H Substitution - Missense Biliary_tract COSM5492386 CHD7 c.5211-3C>A p.? Unknown Biliary_tract COSM5482532 SETD1B c.275C>T p.P92L Substitution - Missense Large_intestine COSM5430557 SETBP1 c.3591C>T p.L1197L Substitution - coding silent Oesophagus COSM5456126 TDRD10 c.669G>A p.M223I Substitution - Missense Large_intestine COSM5575640 TIF1 c.1825A>G p.T609A Substitution - Missense Stomach COSM5649801 JARID2 c.160G>A p.G54R Substitution - Missense Oesophagus COSM5643199 PHRF1 c.2478C>T p.S826S Substitution - coding silent Oesophagus COSM5751599 PHF6 c.76_77insGTATGGAG p.K26fs*10 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5739042 TDRD1 c.411_412insA p.S139fs*16 Insertion - Frameshift Small_intestine COSM5720696 PHF3 c.776C>T p.S259L Substitution - Missense Skin COSM5578136 BRWD1 c.6095A>T p.H2032L Substitution - Missense Skin COSM5683643 MBD1 c.302G>T p.G101V Substitution - Missense Soft_tissue COSM5701377 KMT2D c.3040_3041insG p.E1014fs*38 Insertion - Frameshift Soft_tissue COSM5562992 BAHCC1 c.2576C>A p.P859H Substitution - Missense Prostate COSM5567696 BAHD1 c.648C>T p.S216S Substitution - coding silent Prostate COSM5779978 KDM6A c.239A>G p.Y80C Substitution - Missense Breast COSM5878976 TET2 c.2491C>T p.Q831* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5801998 KIAA2026_ENST00000399933 c.5453_5458delGTAAAA p.G1818_I1820>V Complex - deletion inframe Breast COSM5945235 KDM5A c.2524C>T p.Q842* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5903853 ARID4A c.2147C>T p.S716F Substitution - Missense Skin COSM5896767 LMNB1 c.519G>T p.L173F Substitution - Missense Skin COSM5909951 BRWD3 c.2650A>T p.S884C Substitution - Missense Skin COSM5990005 DNMT3A c.2323-1G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43348 IDH1 c.? p.R49C Substitution - Missense Central_nervous_system COSM51384 IDH1 c.? p.R132L Substitution - Missense Biliary_tract COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4972323 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM42031 TET2 c.4893T>G p.Y1631* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1732074 PBRM1 c.2517_2519delATT p.L839delL Deletion - In frame Kidney COSM1611866 GATAD2A c.195+3C>G p.? Unknown Liver COSM4383633 IDH1 c.647T>A p.L216Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5880309 PHF6 c.905A>C p.H302P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4150509 ATAD2 c.1646+6A>T p.? Unknown Ovary COSM3656604 SMARCA2 c.4108C>T p.R1370C Substitution - Missense Skin COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM220678 KMT2D c.14830C>T p.R4944C Substitution - Missense Bone COSM3748899 BRPF3 c.1618G>A p.E540K Substitution - Missense Stomach COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM4063046 CDYL2 c.276A>G p.R92R Substitution - coding silent Stomach COSM713260 KDM4B c.1625A>T p.Q542L Substitution - Missense Lung COSM218303 PRDM10 c.2411G>A p.R804Q Substitution - Missense Pancreas COSM5024984 KMT2C c.1323_1324delTG p.C441fs*5 Deletion - Frameshift Breast COSM1250076 DIDO1 c.5414G>A p.G1805E Substitution - Missense Oesophagus COSM4746989 NIPBL c.2246delA p.N751fs*43 Deletion - Frameshift Stomach COSM159981 CHD6 c.1440A>T p.K480N Substitution - Missense Breast COSM5500341 PHF3 c.2983-8C>T p.? Unknown Skin COSM3069087 SETD2 c.1685G>A p.R562H Substitution - Missense Stomach COSM1038077 MBD4 c.1319C>A p.P440H Substitution - Missense Endometrium COSM4517744 AP001011.3_ENST00000320876 c.4103_4104CC>TT p.P1368L Substitution - Missense Skin COSM5989293 SMC1A c.577G>C p.A193P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716777 TET2 c.? p.Q324* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM211623 TET2 c.3909C>A p.S1303R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4937826 JMJD1C c.3687C>T p.C1229C Substitution - coding silent Liver COSM5185654 BAZ2A_ENST00000379441 c.4464C>T p.I1488I Substitution - coding silent Large_intestine COSM1085202 SND1 c.1900G>A p.A634T Substitution - Missense Endometrium COSM5427493 PHF6 c.785A>T p.D262V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5485623 SMARCC2 c.914C>A p.P305H Substitution - Missense Large_intestine COSM5492629 TAF3 c.869A>G p.Q290R Substitution - Missense Biliary_tract COSM230133 KMT2C c.1173C>A p.C391* Substitution - Nonsense Upper_aerodigestive_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3508892 SRCAP c.20C>T p.P7L Substitution - Missense Skin COSM5970619 ATF7IP c.3346A>G p.T1116A Substitution - Missense Upper_aerodigestive_tract COSM249685 NCOR1 c.448G>A p.G150R Substitution - Missense Upper_aerodigestive_tract COSM5772523 ARID1B c.4874T>G p.L1625R Substitution - Missense Breast COSM4421871 PRDM15 c.2498G>C p.R833T Substitution - Missense Pleura COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM147594 TDG c.167-9G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5950624 KMT2A c.6486G>C p.L2162F Substitution - Missense Prostate COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5601590 GTF3C1 c.991C>T p.R331W Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3664798 BPTF c.7926+9G>A p.? Unknown Breast COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM1333984 POGZ c.3459G>A p.G1153G Substitution - coding silent Large_intestine COSM1713384 NCOA6 c.5096C>T p.P1699L Substitution - Missense Skin COSM21306 TRRAP c.5741C>T p.P1914L Substitution - Missense Large_intestine COSM1642356 BRPF1 c.2327G>A p.R776Q Substitution - Missense Stomach COSM3825181 PHF17 c.86C>G p.S29C Substitution - Missense Breast COSM1436881 PRDM9 c.929A>C p.K310T Substitution - Missense Large_intestine COSM4085344 MBD5 c.2553G>A p.A851A Substitution - coding silent Stomach COSM730422 KAT2B c.544G>T p.D182Y Substitution - Missense Lung COSM4660678 AIRE c.937G>A p.G313S Substitution - Missense Large_intestine COSM4659112 ACTL6A c.1064C>T p.T355I Substitution - Missense Large_intestine COSM3650684 NCOA2 c.2323C>T p.P775S Substitution - Missense Skin COSM4595028 KMT2C c.2681G>A p.R894Q Substitution - Missense Soft_tissue COSM352513 CHD8 c.5050_5051GG>TT p.G1684>? Complex Lung COSM5755114 BPTF c.3737T>C p.V1246A Substitution - Missense Large_intestine COSM350587 SP140_ENST00000392045 c.1805A>G p.H602R Substitution - Missense Lung COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Skin COSM1495556 SMARCC1 c.2490A>G p.S830S Substitution - coding silent Kidney COSM5879661 ASXL1 c.2083_2084insA p.L696fs*22 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3750192 PHF2 c.2964G>T p.P988P Substitution - coding silent Large_intestine COSM3738501 TET2 c.? p.M1164K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5723957 SMARCA2 c.1898C>T p.S633F Substitution - Missense Skin COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4666253 BRWD1 c.2149C>T p.R717C Substitution - Missense Large_intestine COSM1159250 ARID2 c.1716-1G>A p.? Unknown Skin COSM1321434 TRDMT1 c.873G>T p.V291V Substitution - coding silent Ovary COSM5428786 RSF1 c.2088G>C p.E696D Substitution - Missense Oesophagus COSM913364 MTF2 c.703C>A p.Q235K Substitution - Missense Endometrium COSM4058035 CHD2 c.3830G>A p.G1277D Substitution - Missense Stomach COSM3794151 MGA c.8830G>A p.D2944N Substitution - Missense Urinary_tract COSM1342139 ZMYM4 c.4377A>C p.A1459A Substitution - coding silent Large_intestine COSM3734250 DAXX c.707T>A p.F236Y Substitution - Missense Pancreas COSM4162024 KMT2C c.946A>T p.T316S Substitution - Missense Upper_aerodigestive_tract COSM895009 PRDM2 c.1655A>C p.D552A Substitution - Missense Endometrium COSM4186552 TDRD7 c.55A>T p.K19* Substitution - Nonsense Kidney COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3750243 TRIM33 c.1146A>G p.Q382Q Substitution - coding silent Soft_tissue COSM4886801 HDAC10 c.1546C>T p.R516W Substitution - Missense Upper_aerodigestive_tract COSM43412 TET2 c.?_?del? p.?fs Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1639811 ARID1A c.1060C>T p.Q354* Substitution - Nonsense Soft_tissue COSM4926233 ZBTB4 c.43G>A p.A15T Substitution - Missense Liver COSM211743 TET2 c.5046_5046delG p.R1682fs*13 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1581661 SETD2 c.774G>A p.M258I Substitution - Missense Liver COSM1475079 KMT2A c.3005C>G p.S1002C Substitution - Missense Breast COSM1583403 SETDB1 c.1493C>A p.S498Y Substitution - Missense Endometrium COSM1108253 TAF1L c.422A>G p.D141G Substitution - Missense Endometrium COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4159382 LMNB1 c.1379C>T p.S460F Substitution - Missense Thyroid COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Central_nervous_system COSM1480017 ZBTB4 c.109G>A p.G37R Substitution - Missense Breast COSM30572 SMARCA4 c.1630C>T p.Q544* Substitution - Nonsense Breast COSM5607142 TRIM66 c.2578C>T p.P860S Substitution - Missense Skin COSM133717 DNMT3A c.2389A>T p.N797Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5977266 UHRF2 c.1752T>G p.Y584* Substitution - Nonsense Upper_aerodigestive_tract COSM4578956 SRCAP c.6945T>C p.Y2315Y Substitution - coding silent Bone COSM483608 ARID1B c.2408T>A p.M803K Substitution - Missense Kidney COSM39575 PRDM16 c.481A>G p.N161D Substitution - Missense Central_nervous_system COSM3453548 RSF1 c.3678C>T p.S1226S Substitution - coding silent Skin COSM340882 SFMBT2 c.1381A>G p.I461V Substitution - Missense Lung COSM4596741 EYA2 c.896C>A p.T299K Substitution - Missense Upper_aerodigestive_tract COSM5593852 UHRF1 c.1097C>T p.P366L Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4702500 KMT2C c.7392A>T p.G2464G Substitution - coding silent Large_intestine COSM2148892 SHPRH c.1024G>A p.E342K Substitution - Missense Central_nervous_system COSM4040246 EP400 c.3271A>T p.I1091F Substitution - Missense Stomach COSM724843 DIDO1 c.5611G>A p.E1871K Substitution - Missense Lung COSM980858 MYST2 c.1199G>A p.R400H Substitution - Missense Endometrium COSM1223545 RERE c.2363C>T p.P788L Substitution - Missense Large_intestine COSM1266218 SMARCA2 c.669G>A p.Q223Q Substitution - coding silent Skin COSM5927812 ASXL3 c.691G>A p.E231K Substitution - Missense Skin COSM130348 ZMYM2 c.1364G>C p.R455T Substitution - Missense Upper_aerodigestive_tract COSM110764 TET2 c.4853_4854insA p.Y1618fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1672938 ARID1B c.4816C>T p.R1606* Substitution - Nonsense Large_intestine COSM52816 PBRM1 c.1112_1131del20 p.S371fs*14 Deletion - Frameshift Kidney COSM4672019 CHD4 c.1622G>A p.R541Q Substitution - Missense Small_intestine COSM5729294 PHC3 c.847C>T p.P283S Substitution - Missense Skin COSM693682 KMT2D c.5686C>T p.Q1896* Substitution - Nonsense Lung COSM3973698 SUV39H1 c.717G>C p.K239N Substitution - Missense Central_nervous_system COSM3869608 GLYATL1 c.190C>G p.H64D Substitution - Missense Skin COSM1296224 ARID1A c.3598C>T p.Q1200* Substitution - Nonsense Urinary_tract COSM3399118 APOBEC1 c.73G>A p.V25I Substitution - Missense Central_nervous_system COSM4725215 SETDB2 c.2145A>G p.R715R Substitution - coding silent Large_intestine COSM48570 KMT2A c.6611G>A p.R2204Q Substitution - Missense Lung COSM290360 CHD9 c.2699A>G p.Y900C Substitution - Missense Large_intestine COSM207998 MECOM c.1839delA p.G614fs*30 Deletion - Frameshift Breast COSM1012894 ASXL1 c.2083C>T p.Q695* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3812047 ARID2 c.1113G>C p.K371N Substitution - Missense Breast COSM1254022 HDAC9 c.1351C>T p.R451* Substitution - Nonsense Oesophagus COSM3824033 SMARCC1 c.2023G>A p.D675N Substitution - Missense Breast COSM96379 ASXL1 c.1917_1990>14 p.A640_S664>PCSGG Complex - deletion inframe Haematopoietic_and_lymphoid_tissue COSM272257 PHF3 c.2903_2904insT p.R971fs*6 Insertion - Frameshift Urinary_tract COSM1087432 SMARCD3 c.1146G>A p.T382T Substitution - coding silent Endometrium COSM3967346 KMT2A c.2427T>A p.S809S Substitution - coding silent Central_nervous_system COSM1611165 SMCHD1 c.2459A>G p.N820S Substitution - Missense Liver COSM3755973 CBX4 c.480C>T p.H160H Substitution - coding silent Thyroid COSM2166349 KAT5 c.477C>A p.P159P Substitution - coding silent Upper_aerodigestive_tract COSM5707677 EP300 c.4079T>C p.L1360P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM473480 KDM6B c.2635G>T p.A879S Substitution - Missense Oesophagus COSM3560210 SCML2 c.931C>T p.P311S Substitution - Missense Skin COSM4865651 CHD4 c.3407C>A p.A1136D Substitution - Missense Endometrium COSM1682287 EP300 c.4066C>T p.R1356* Substitution - Nonsense Central_nervous_system COSM939268 KDM5A c.2454G>T p.R818R Substitution - coding silent Endometrium COSM5619802 ACTB c.164G>A p.G55D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4104558 TCF20 c.1909A>C p.R637R Substitution - coding silent Stomach COSM22634 MEN1 c.? p.H139D Substitution - Missense Parathyroid COSM3307044 HDAC9 c.521G>A p.R174H Substitution - Missense Lung COSM5069258 CHD7 c.3254A>G p.E1085G Substitution - Missense Large_intestine COSM5885865 KMT2A c.7341delG p.E2448fs*5 Deletion - Frameshift Urinary_tract COSM3667055 HNF1A c.670C>G p.P224A Substitution - Missense Liver COSM281397 GLYATL1 c.984G>T p.Q328H Substitution - Missense Large_intestine COSM3550707 BRWD1 c.3784A>G p.K1262E Substitution - Missense Skin COSM4790154 AICDA c.356G>A p.R119H Substitution - Missense Liver COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1184954 BRPF3 c.16C>T p.R6W Substitution - Missense Large_intestine COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM394637 CHD8 c.5975G>A p.R1992H Substitution - Missense Lung COSM3797024 DPF1 c.123C>T p.L41L Substitution - coding silent Urinary_tract COSM3739781 BAZ2A_ENST00000379441 c.5512A>G p.M1838V Substitution - Missense Liver COSM2007469 KMT2D c.478G>A p.V160M Substitution - Missense Large_intestine COSM1100919 CHD7 c.8789C>T p.A2930V Substitution - Missense Endometrium COSM51988 BAP1 c.273T>G p.C91W Substitution - Missense Eye COSM4665235 BAZ2B c.1390_1407del18 p.T464_A469delTSSSPA Deletion - In frame Large_intestine COSM3637534 STK31 c.451C>T p.P151S Substitution - Missense Skin COSM5711781 BRWD3 c.4361G>T p.S1454I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4487076 KMT2D c.2319C>T p.A773A Substitution - coding silent Skin COSM4562659 KDM4A c.937G>A p.V313M Substitution - Missense Skin COSM4791109 KMT2C c.1309A>T p.I437L Substitution - Missense Liver COSM4856482 NCOA1 c.755G>A p.R252Q Substitution - Missense Cervix COSM5569300 CHD3 c.5007A>G p.T1669T Substitution - coding silent Prostate COSM4881352 KMT2D c.12277G>T p.A4093S Substitution - Missense Upper_aerodigestive_tract COSM5914285 EYA2 c.924G>A p.M308I Substitution - Missense Skin COSM5001754 NCOA3 c.3535C>A p.Q1179K Substitution - Missense Pancreas COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4678913 DNMT3B c.481C>A p.P161T Substitution - Missense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3026306 STK31 c.1639G>A p.A547T Substitution - Missense Large_intestine COSM133011 ARID1A c.827_827delG p.G276fs*87 Deletion - Frameshift Salivary_gland COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM969203 JMJD5 c.423C>T p.V141V Substitution - coding silent Large_intestine COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM111728 ZMYM6 c.3833_3835delTTT p.F1278delF Deletion - In frame Ovary COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5562664 BRD9 c.163C>G p.P55A Substitution - Missense Prostate COSM5818700 JHDM1D c.1561A>T p.T521S Substitution - Missense Liver COSM126635 CREBBP c.1507C>T p.Q503* Substitution - Nonsense Lung COSM5483594 LMNA c.1729G>A p.A577T Substitution - Missense Large_intestine COSM229296 KDM6B c.4819C>T p.R1607W Substitution - Missense Skin COSM5708596 TBL1XR1 c.793C>G p.H265D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1236443 ING1 c.154G>T p.D52Y Substitution - Missense Autonomic_ganglia COSM3699909 ERCC6 c.2008C>G p.R670G Substitution - Missense Liver COSM1718933 GATAD2B c.511G>A p.D171N Substitution - Missense Skin COSM96451 CREBBP c.? p.P688A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5609449 MSH6 c.935G>A p.R312K Substitution - Missense Skin COSM3294775 EYA2 c.755G>A p.R252Q Substitution - Missense Prostate COSM4923565 SIRT5 c.153G>A p.K51K Substitution - coding silent Liver COSM3735006 TET2 c.? p.L1340R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4018339 KMT2A c.10199C>T p.P3400L Substitution - Missense Stomach COSM6013897 JMJD1C c.1196C>T p.P399L Substitution - Missense Skin COSM4919122 PRDM2 c.416G>T p.W139L Substitution - Missense Liver COSM683252 TDRD1 c.601G>T p.A201S Substitution - Missense Lung COSM5908434 SETD7 c.645-8C>T p.? Unknown Skin COSM4831391 HAT1 c.1026G>A p.M342I Substitution - Missense Cervix COSM3779895 PSIP1 c.331G>A p.E111K Substitution - Missense Urinary_tract COSM96931 TET2 c.1336_1337delTT p.L446fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1732535 SFMBT2 c.150G>C p.L50F Substitution - Missense Bone COSM1378075 GLYR1 c.1140delG p.R381fs*20 Deletion - Frameshift Kidney COSM4746830 ARID1A c.5143_5145delCTC p.L1716delL Deletion - In frame Stomach COSM4403408 AP001011.3_ENST00000320876 c.554A>C p.N185T Substitution - Missense Skin COSM4797073 NIPBL c.3834G>A p.K1278K Substitution - coding silent Liver COSM4758004 BAHCC1 c.7222A>C p.S2408R Substitution - Missense Stomach COSM1250499 DNMT3B c.1755G>A p.A585A Substitution - coding silent Oesophagus COSM1245946 BAP1 c.709C>T p.R237C Substitution - Missense Liver COSM3973924 ATRX c.3667G>T p.E1223* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3623163 HDGFL1 c.241G>A p.E81K Substitution - Missense Skin COSM5028066 GLYR1 c.1305G>C p.K435N Substitution - Missense Breast COSM5922983 KMT2D c.6613C>T p.P2205S Substitution - Missense Skin COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5972837 LMNB2 c.454G>A p.G152S Substitution - Missense Upper_aerodigestive_tract COSM3728445 HDAC9 c.1263_1264delAC p.H422fs*16 Deletion - Frameshift Breast COSM5465571 CAMKMT c.523C>A p.L175M Substitution - Missense Large_intestine COSM52947 IDH2 c.? p.R172? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4043667 BAZ2A c.4238C>T p.T1413M Substitution - Missense Stomach COSM1081867 PHIP c.1642A>G p.K548E Substitution - Missense Endometrium COSM5094956 PHF16 c.1653A>T p.E551D Substitution - Missense Thymus COSM5720268 TET2 c.5665C>T p.P1889S Substitution - Missense Skin COSM4574708 KDM2A c.3021_3025delTCTTC p.D1007fs*20 Deletion - Frameshift Bone COSM4500921 DIDO1 c.5769C>T p.F1923F Substitution - coding silent Skin COSM3460969 ARID2 c.2173C>T p.Q725* Substitution - Nonsense Skin COSM3379177 SETD4 c.831T>A p.N277K Substitution - Missense Pancreas COSM1721877 EP300 c.2524C>T p.P842S Substitution - Missense Skin COSM3636545 KMT2C c.996C>T p.D332D Substitution - coding silent Skin COSM4543402 ZMYM4 c.3373G>A p.E1125K Substitution - Missense Skin COSM983879 PHF23 c.367G>A p.D123N Substitution - Missense Endometrium COSM3501104 MGA c.5001T>A p.I1667I Substitution - coding silent Skin COSM254614 CHD6 c.64C>T p.P22S Substitution - Missense Urinary_tract COSM479692 MECOM c.1290G>T p.M430I Substitution - Missense Kidney COSM140099 CTCF c.1369C>T p.R457* Substitution - Nonsense Skin COSM4788959 CHD1 c.4563G>A p.V1521V Substitution - coding silent Liver COSM2758224 NCOA6 c.1095G>A p.T365T Substitution - coding silent Large_intestine COSM4726212 SIRT7 c.830A>G p.Y277C Substitution - Missense Large_intestine COSM22854 KDM5B c.4658G>C p.R1553T Substitution - Missense Urinary_tract COSM203997 EP400 c.1348G>A p.A450T Substitution - Missense Large_intestine COSM1348577 JMJD1C c.5364delA p.E1789fs*45 Deletion - Frameshift Large_intestine COSM163703 PRDM1 c.2119G>A p.E707K Substitution - Missense Breast COSM1476831 CHD4 c.3484C>T p.R1162W Substitution - Missense Breast COSM1180774 KDM5A c.3597delA p.G1200fs*9 Deletion - Frameshift Large_intestine COSM5991645 KDM6A c.? p.N1130fs*8 Frameshift Breast COSM1266240 SMARCA4 c.2932C>T p.R978* Substitution - Nonsense Liver COSM5710462 KMT2C c.7159T>G p.L2387V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5045194 ATXN7 c.1603G>A p.V535M Substitution - Missense Oesophagus COSM926018 SIRT3 c.561C>A p.H187Q Substitution - Missense Endometrium COSM321095 KAT2B c.871G>T p.V291L Substitution - Missense Lung COSM5558699 ASH1L c.4923A>C p.L1641L Substitution - coding silent Prostate COSM3770643 SETD2 c.3206delC p.S1069fs*1 Deletion - Frameshift Soft_tissue COSM97189 ASXL1 c.2580_2581delAG p.R860fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3665756 ERCC6 c.2327A>C p.Y776S Substitution - Missense Liver COSM4568451 SMEK1 c.115T>C p.S39P Substitution - Missense Prostate COSM24597 SMARCB1 c.332delC p.I112fs*31 Deletion - Frameshift Soft_tissue COSM4158737 TET2 c.2771A>G p.H924R Substitution - Missense Thyroid COSM1030685 BRWD1 c.5123C>T p.A1708V Substitution - Missense Endometrium COSM259026 ZMYM1 c.587C>T p.T196I Substitution - Missense Large_intestine COSM5097156 MTA1 c.1146G>A p.A382A Substitution - coding silent Large_intestine COSM5792435 MGA c.3268G>T p.V1090F Substitution - Missense Breast COSM2889263 ASXL1 c.1831G>A p.A611T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716176 EZH2 c.? p.Y646C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM396930 CHD2 c.467C>G p.S156* Substitution - Nonsense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5881428 SETD2 c.? p.P2054L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1678810 CREBBP c.1171G>A p.V391I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM488715 UTY c.3170C>A p.A1057E Substitution - Missense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5046900 BAZ1A c.2567C>T p.S856F Substitution - Missense Oesophagus COSM1363037 SMARCC2 c.3274_3276delCCT p.P1092delP Deletion - In frame Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3749492 DOT1L c.4156G>A p.G1386S Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4742913 ZMYM3 c.3970C>T p.R1324W Substitution - Missense Small_intestine COSM5020249 TET2 c.86C>G p.P29R Substitution - Missense Soft_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3494950 CHD8 c.2284G>A p.E762K Substitution - Missense Skin COSM5718394 PHF2 c.442G>C p.D148H Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4689682 HDAC4 c.1696G>T p.D566Y Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3911509 EYA2 c.174C>T p.L58L Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4817865 KDM4B c.1255G>A p.E419K Substitution - Missense Cervix COSM4502487 TCF19 c.614C>T p.P205L Substitution - Missense Skin COSM3304114 KMT2C c.7828C>T p.R2610* Substitution - Nonsense Stomach COSM2812130 SETBP1 c.3801C>T p.G1267G Substitution - coding silent Biliary_tract COSM3866545 TDRD1 c.192G>A p.K64K Substitution - coding silent Skin COSM421229 PHIP c.5298G>C p.M1766I Substitution - Missense Urinary_tract COSM52900 PBRM1 c.3854A>G p.D1285G Substitution - Missense Kidney COSM5758966 PHF21B c.898C>T p.R300* Substitution - Nonsense Bone COSM4755356 SFMBT1 c.130A>G p.T44A Substitution - Missense Stomach COSM3650682 NCOA2 c.3858G>A p.M1286I Substitution - Missense Skin COSM211627 TET2 c.4714C>T p.R1572W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4119057 BAP1 c.1839G>A p.T613T Substitution - coding silent Stomach COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Large_intestine COSM3855029 NIPBL c.5076G>A p.M1692I Substitution - Missense Stomach COSM253319 TET2 c.? p.P463fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM4012796 PWWP2B c.987G>A p.P329P Substitution - coding silent Stomach COSM1749950 SUZ12 c.992G>A p.R331K Substitution - Missense Urinary_tract COSM5989756 KDM6A c.2331T>A p.N777K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4991671 IDH1 c.353C>T p.P118L Substitution - Missense Skin COSM4156575 SMARCA1 c.174G>A p.E58E Substitution - coding silent Thyroid COSM4593941 L3MBTL2 c.697G>C p.A233P Substitution - Missense Upper_aerodigestive_tract COSM3911200 PHF20 c.1762C>T p.H588Y Substitution - Missense Skin COSM1262041 PHF17 c.1009T>C p.F337L Substitution - Missense Stomach COSM5953499 ARID2 c.3007G>C p.V1003L Substitution - Missense Oesophagus COSM5659655 SETD5_ENST00000402198 c.1789G>A p.A597T Substitution - Missense Soft_tissue COSM379128 NCOR1 c.2415T>C p.A805A Substitution - coding silent Lung COSM2810356 ASXL3 c.1739delA p.V583fs*59 Deletion - Frameshift Large_intestine COSM21330 TRRAP c.2544G>T p.T848T Substitution - coding silent Ovary COSM30619 SMARCA4 c.3526A>T p.S1176C Substitution - Missense Lung COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM51441 ARID1A c.5161C>T p.R1721* Substitution - Nonsense Central_nervous_system COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Pancreas COSM96396 ASXL1 c.1992_1992delC p.S664fs*39 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM133672 IDH2 c.516G>C p.R172S Substitution - Missense Bone COSM150401 JHDM1D c.303C>T p.H101H Substitution - coding silent Stomach COSM150018 NSD1 c.339C>T p.C113C Substitution - coding silent Stomach COSM194167 JMJD1C c.2419C>T p.L807F Substitution - Missense Urinary_tract COSM211694 TET2 c.2848_2867del20 p.A950fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM211621 TET2 c.3697T>G p.W1233G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Kidney COSM248902 TRRAP c.2446C>T p.R816W Substitution - Missense Pancreas COSM254672 EP300 c.4352A>T p.H1451L Substitution - Missense Oesophagus COSM263787 SMCHD1 c.3946C>T p.R1316* Substitution - Nonsense Endometrium COSM285203 SMARCB1 c.310G>A p.D104N Substitution - Missense Large_intestine COSM282376 LBR c.1631G>A p.R544H Substitution - Missense Large_intestine COSM301930 CHD3 c.721G>C p.A241P Substitution - Missense Skin COSM291735 CREBBP c.5039_5041delCCT p.S1680delS Deletion - In frame Large_intestine COSM315770 TAF1 c.1167G>A p.E389E Substitution - coding silent Lung COSM403770 DNMT3B c.738G>T p.W246C Substitution - Missense Lung COSM438028 SMCHD1 c.2168G>T p.R723I Substitution - Missense Breast COSM440562 TRIM28 c.1234C>T p.R412C Substitution - Missense Breast COSM976119 RAI1 c.1607G>A p.R536H Substitution - Missense Endometrium COSM988376 SETBP1 c.1558G>T p.E520* Substitution - Nonsense Endometrium COSM955467 BAZ1A c.2267T>G p.F756C Substitution - Missense Endometrium COSM940022 KMT2D c.9848G>A p.G3283D Substitution - Missense Endometrium COSM703228 SETD1A c.3800G>A p.G1267E Substitution - Missense Lung COSM738278 PRDM9 c.1505A>T p.Q502L Substitution - Missense Soft_tissue COSM907739 ARID1A c.5365delG p.A1789fs*17 Deletion - Frameshift Kidney COSM907754 ARID1A c.6410delC p.T2138fs*62 Deletion - Frameshift Endometrium COSM990726 CARM1 c.623G>A p.R208Q Substitution - Missense Endometrium COSM1041690 FXR1 c.417G>T p.E139D Substitution - Missense Endometrium COSM1038086 MBD4 c.61A>G p.T21A Substitution - Missense Endometrium COSM1071565 PRDM13 c.1533G>T p.E511D Substitution - Missense Endometrium COSM1075359 ARID1B c.5298C>T p.F1766F Substitution - coding silent Skin COSM1078016 DAXX c.1849G>A p.V617I Substitution - Missense Endometrium COSM1056166 CLOCK c.2063A>G p.Q688R Substitution - Missense Endometrium COSM1124865 TAF1 c.368G>T p.R123I Substitution - Missense Endometrium COSM1107674 SMARCA2 c.9G>A p.T3T Substitution - coding silent Endometrium COSM1118755 SCML2 c.1850C>A p.P617H Substitution - Missense Endometrium COSM1716556 ASXL1 c.2448_2448delT p.L817fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1088167 HDAC9 c.1352G>A p.R451Q Substitution - Missense Prostate COSM1093612 TRRAP c.4097G>A p.R1366Q Substitution - Missense Endometrium COSM1106529 BRD3 c.1967C>T p.S656L Substitution - Missense Endometrium COSM1095772 ATAD2 c.592C>T p.R198* Substitution - Nonsense Endometrium COSM1236541 TTF2 c.1633C>A p.Q545K Substitution - Missense Autonomic_ganglia COSM1180827 GTF3C1 c.2299delA p.S767fs*7 Deletion - Frameshift Large_intestine COSM1235128 KMT2D c.13327_13328delAG p.S4443fs*68 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1264008 RERE c.2792C>T p.P931L Substitution - Missense Oesophagus COSM1215650 MTF2 c.1575T>A p.Y525* Substitution - Nonsense Large_intestine COSM1189394 KDM6B c.1336C>T p.R446W Substitution - Missense Lung COSM1293705 AP001011.3_ENST00000320876 c.5214G>A p.A1738A Substitution - coding silent Cervix COSM1378953 CTCF c.2064delA p.E691fs*30 Deletion - Frameshift Large_intestine COSM1457129 MYST3 c.5684G>A p.R1895H Substitution - Missense Large_intestine COSM1361090 KDM5A c.4170G>A p.M1390I Substitution - Missense Large_intestine COSM1486703 PRDM9 c.2126C>G p.T709S Substitution - Missense Liver COSM1609695 CDYL2 c.1305C>A p.T435T Substitution - coding silent Liver COSM1583138 DNMT3A c.1661G>A p.C554Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1617899 SFMBT1 c.2383A>C p.K795Q Substitution - Missense Liver COSM1627208 RERE c.3675T>C p.P1225P Substitution - coding silent Liver COSM1627519 ERCC6 c.1533G>A p.Q511Q Substitution - coding silent Liver COSM1580560 BAZ1A c.2693G>C p.C898S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1639808 ARID1A c.822delG p.G276fs*87 Deletion - Frameshift Biliary_tract COSM1639808 ARID1A c.822delG p.G276fs*87 Deletion - Frameshift Stomach COSM1690769 SMYD1 c.910G>A p.E304K Substitution - Missense Skin COSM1716690 ATRX c.4025delG p.H1343fs*3 Deletion - Frameshift Central_nervous_system COSM1703073 TDRD1 c.2105C>T p.P702L Substitution - Missense Skin COSM1716414 CTCF c.610_611insA p.T204fs*26 Insertion - Frameshift Endometrium COSM1695613 NIPBL c.1090C>T p.R364C Substitution - Missense Skin COSM1725251 MEAF6 c.271A>T p.K91* Substitution - Nonsense Liver COSM1743793 KMT2C c.10882G>A p.D3628N Substitution - Missense Biliary_tract COSM1734935 MBD6 c.437G>A p.R146H Substitution - Missense Pancreas COSM1936439 BAZ2A_ENST00000379441 c.5395C>T p.L1799F Substitution - Missense Large_intestine COSM2080107 ZMYM1 c.1023G>A p.T341T Substitution - coding silent Large_intestine COSM2105644 KMT2A c.11271C>A p.P3757P Substitution - coding silent Large_intestine COSM2095543 TDRD5 c.2002-1G>A p.? Unknown Skin COSM2819124 PRDM15 c.2000C>T p.P667L Substitution - Missense Skin COSM2874597 NCOA2 c.2808C>T p.S936S Substitution - coding silent Large_intestine COSM3394691 STK31 c.2116C>T p.L706F Substitution - Missense Pancreas COSM3436547 BMI1 c.133C>T p.R45C Substitution - Missense Skin COSM3642850 TRRAP c.11207A>G p.K3736R Substitution - Missense Skin COSM3618491 BRD9 c.859C>T p.L287F Substitution - Missense Skin COSM3547332 EYA2 c.524C>T p.P175L Substitution - Missense Liver COSM3660767 SETD5_ENST00000402198 c.227A>T p.E76V Substitution - Missense Liver COSM3721237 CHD3 c.442G>C p.E148Q Substitution - Missense Upper_aerodigestive_tract COSM3716373 PCGF6 c.946T>C p.Y316H Substitution - Missense Prostate COSM3743708 HDAC4 c.3198G>C p.V1066V Substitution - coding silent Liver COSM3756109 AP001011.3_ENST00000320876 c.2637A>T p.K879N Substitution - Missense Thyroid COSM3755305 RAI1 c.837G>A p.Q279Q Substitution - coding silent Thyroid COSM3803008 TDRD5 c.1014C>A p.F338L Substitution - Missense Breast COSM3788037 KDM2A c.1270G>T p.D424Y Substitution - Missense Pancreas COSM3863721 TDRD5 c.244G>A p.E82K Substitution - Missense Skin COSM3848330 TAF1L c.3643C>T p.R1215C Substitution - Missense Breast COSM3913022 BRD1 c.2823C>T p.P941P Substitution - coding silent Skin COSM3925534 PRDM14 c.475C>T p.L159L Substitution - coding silent Skin COSM3907622 KDM4C c.307G>T p.A103S Substitution - Missense Stomach COSM3875670 PHIP c.3728G>A p.S1243N Substitution - Missense Stomach COSM3900882 CHD7 c.7472G>A p.R2491H Substitution - Missense Stomach COSM3973892 ATRX c.6217+2T>C p.? Unknown Central_nervous_system COSM4016611 BTAF1 c.5246T>G p.V1749G Substitution - Missense Stomach COSM4005294 MECOM c.187G>A p.E63K Substitution - Missense Urinary_tract COSM4002836 SETD5_ENST00000402198 c.1598A>G p.D533G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3987345 RNF17 c.427T>C p.L143L Substitution - coding silent Kidney COSM4109792 HDAC6 c.246A>G p.A82A Substitution - coding silent Stomach COSM4101710 PRDM15 c.2987G>A p.R996Q Substitution - Missense Stomach COSM4059650 GTF3C1 c.3555C>T p.S1185S Substitution - coding silent Stomach COSM4143621 SMYD3 c.816C>T p.L272L Substitution - coding silent Thyroid COSM4161998 KMT2C c.2726G>A p.R909K Substitution - Missense Skin COSM4219251 PRDM2 c.1450C>T p.P484S Substitution - Missense Cervix COSM4513509 KMT2A c.9403C>T p.L3135L Substitution - coding silent Skin COSM4425641 DIDO1 c.862T>C p.C288R Substitution - Missense Oesophagus COSM4436956 ZMYM3 c.3247G>C p.E1083Q Substitution - Missense Oesophagus COSM4542167 ASXL3 c.2257G>C p.G753R Substitution - Missense Skin COSM4489825 TAF1 c.3473C>T p.S1158F Substitution - Missense Skin COSM4524601 ERCC6 c.1281C>T p.F427F Substitution - coding silent Skin COSM4450625 KMT2C c.7307delC p.P2436fs*16 Deletion - Frameshift Skin COSM4452177 PBRM1 c.1635A>T p.L545L Substitution - coding silent Skin COSM4769937 ZMYM3 c.1254C>T p.V418V Substitution - coding silent Biliary_tract COSM4717517 PRDM7 c.483C>T p.P161P Substitution - coding silent Large_intestine COSM4702387 KMT2A c.4178T>A p.I1393N Substitution - Missense Large_intestine COSM4766132 TET2 c.5698G>T p.V1900F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4777264 SHPRH c.3683A>C p.E1228A Substitution - Missense Breast COSM4647815 MGA c.2785T>C p.Y929H Substitution - Missense Large_intestine COSM4625775 DAXX c.276G>A p.Q92Q Substitution - coding silent Large_intestine COSM4606548 SETD2 c.2059G>A p.V687M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4749292 L3MBTL4 c.662G>A p.R221H Substitution - Missense Stomach COSM4806557 PHF8 c.2915C>T p.P972L Substitution - Missense Pancreas COSM4777992 EP300 c.4739T>C p.L1580P Substitution - Missense Prostate COSM4795561 PRDM16 c.209C>T p.A70V Substitution - Missense Liver COSM4889966 PSIP1 c.167A>G p.K56R Substitution - Missense Upper_aerodigestive_tract COSM4922393 CHD9 c.8664A>C p.S2888S Substitution - coding silent Liver COSM4931833 KDM4C c.2260-2A>T p.? Unknown Liver COSM4990122 KMT2A c.681C>G p.T227T Substitution - coding silent Skin COSM4996398 SMARCA5 c.1553A>T p.Y518F Substitution - Missense Upper_aerodigestive_tract COSM4991226 SMARCA4 c.2905C>T p.H969Y Substitution - Missense Skin COSM4999132 PRMT10 c.716T>C p.I239T Substitution - Missense Pancreas COSM4970979 EPC2 c.19C>T p.R7* Substitution - Nonsense Central_nervous_system COSM5351721 ASXL1 c.2030_2031insT p.R678fs*40 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5506126 RUVBL1 c.951C>T p.R317R Substitution - coding silent Biliary_tract COSM5473472 SETDB2 c.1839A>C p.E613D Substitution - Missense Large_intestine COSM5464909 PHF20 c.1105C>A p.Q369K Substitution - Missense Large_intestine COSM5484658 TET2 c.5693C>A p.S1898Y Substitution - Missense Large_intestine COSM5431516 SUV420H1 c.1618C>T p.R540W Substitution - Missense Oesophagus COSM5446146 PHC1 c.1287_1289delGCA p.Q439delQ Deletion - In frame Thyroid COSM5427115 KMT2A c.4186G>A p.D1396N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5459191 NSD1 c.3475C>T p.R1159W Substitution - Missense Large_intestine COSM5453917 POGZ c.765T>C p.T255T Substitution - coding silent Large_intestine COSM5745317 CHD3 c.2887C>T p.H963Y Substitution - Missense Pancreas COSM5726088 PRMT3 c.1130C>T p.A377V Substitution - Missense Skin COSM5613334 PRMT3 c.1413delG p.G472fs*28 Deletion - Frameshift Lung COSM5581653 MGA c.8958C>T p.S2986S Substitution - coding silent Skin COSM5598416 KDM5A c.3795C>T p.A1265A Substitution - coding silent Skin COSM5586406 RERE c.2560C>T p.P854S Substitution - Missense Skin COSM5661567 HDAC4 c.3126G>A p.L1042L Substitution - coding silent Soft_tissue COSM5659725 HDAC9 c.2808T>C p.F936F Substitution - coding silent Soft_tissue COSM5691245 TP53BP1 c.2742C>A p.I914I Substitution - coding silent Soft_tissue COSM5752642 NCOR1 c.3499C>T p.Q1167* Substitution - Nonsense Breast COSM5695983 KMT2D c.13007_13010delACTA p.Y4336fs*10 Deletion - Frameshift Soft_tissue COSM5553910 KAT5 c.309C>T p.F103F Substitution - coding silent Prostate COSM5776710 TDRD6 c.2119G>C p.E707Q Substitution - Missense Breast COSM5786137 ZMYND11 c.1685G>C p.R562T Substitution - Missense Breast COSM5879942 KDM6A c.3364G>T p.V1122F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5878866 DNMT3A c.897A>T p.K299N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5833497 SMCHD1 c.510_513delACTG p.L171fs*67 Deletion - Frameshift Breast COSM5802343 KMT2C c.1360_1361insT p.I455fs*3 Insertion - Frameshift Breast COSM5921263 SMYD4 c.1276T>G p.F426V Substitution - Missense Skin COSM5914688 LMNA c.1208C>T p.S403F Substitution - Missense Skin COSM5928703 NIPBL c.5045G>A p.R1682Q Substitution - Missense Skin COSM5911021 KDM4B c.675C>T p.I225I Substitution - coding silent Skin COSM166416 ASXL1 c.? p.S846N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5347232 ARID1A c.?_?del? p.N201fs*? Deletion - Frameshift Endometrium COSM5006581 PBRM1 c.?ins? p.?fs*? Insertion - Frameshift Kidney COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4167264 TET2 c.? p.T1270fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM42024 TET2 c.2407C>T p.Q803* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4606366 PHF6 c.?_?insCC p.G213fs*? Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM53133 TET2 c.? p.Q888* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM1739969 APOBEC1 c.582G>T p.K194N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM396178 JARID2 c.3249C>G p.A1083A Substitution - coding silent Lung COSM1602269 ZMYM6 c.3413T>G p.F1138C Substitution - Missense Liver COSM5894078 DIDO1 c.4072C>T p.P1358S Substitution - Missense Skin COSM36248 IDH1 c.? p.R132? Substitution - Missense Bone COSM3875678 PHIP c.1168C>T p.R390C Substitution - Missense Stomach COSM5783872 NCOA6 c.391+3C>A p.? Unknown Breast COSM5738334 MYST3 c.3960T>G p.D1320E Substitution - Missense Small_intestine COSM5365431 SMARCA4 c.1694C>T p.T565M Substitution - Missense Large_intestine COSM4854348 KDM4B c.2058C>G p.I686M Substitution - Missense Cervix COSM1361679 ARID2 c.186+1G>A p.? Unknown Large_intestine COSM256359 ASXL1 c.3100A>G p.K1034E Substitution - Missense Large_intestine COSM3584443 KDM5D c.2846C>T p.S949F Substitution - Missense Skin COSM3733522 NCOR1 c.59A>C p.Y20S Substitution - Missense Thyroid COSM1114826 SMARCA1 c.78C>T p.D26D Substitution - coding silent Endometrium COSM4099070 ZMYND8 c.2230C>T p.R744W Substitution - Missense Stomach COSM277586 TAF1L c.2534G>A p.R845Q Substitution - Missense Skin COSM1351655 KMT2A c.9255G>A p.M3085I Substitution - Missense Large_intestine COSM4655157 TRDMT1 c.538G>T p.G180C Substitution - Missense Large_intestine COSM4614530 BRPF1 c.2806delC p.Q938fs*5 Deletion - Frameshift Stomach COSM4099099 NCOA3 c.2467C>T p.H823Y Substitution - Missense Stomach COSM4800185 CHD6 c.5495G>T p.C1832F Substitution - Missense Liver COSM3596981 ATXN7 c.518C>T p.S173F Substitution - Missense Skin COSM1104228 POLE3 c.412_414delGAA p.E138delE Deletion - In frame Endometrium COSM430521 HNF1A c.51C>G p.L17L Substitution - coding silent Liver COSM4126232 PRDM8 c.1948A>C p.K650Q Substitution - Missense Stomach COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5723153 DIDO1 c.6713C>T p.S2238L Substitution - Missense Skin COSM961213 BAHD1 c.1648C>T p.R550C Substitution - Missense Endometrium COSM5748999 PBRM1 c.2005G>C p.V669L Substitution - Missense Pancreas COSM95063 PRDM16 c.1404G>A p.M468I Substitution - Missense Lung COSM4590120 KDM4B c.2128A>G p.K710E Substitution - Missense Upper_aerodigestive_tract COSM5415244 KMT2C c.13698G>C p.M4566I Substitution - Missense Endometrium COSM1675011 EHMT1 c.1557G>T p.L519F Substitution - Missense Prostate COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM3758729 DIDO1 c.4702A>G p.T1568A Substitution - Missense Large_intestine COSM931009 KDM2A c.28T>C p.Y10H Substitution - Missense Endometrium COSM3991855 ZGPAT c.1364T>C p.L455P Substitution - Missense Kidney COSM4453518 DNMT1 c.306A>T p.E102D Substitution - Missense Skin COSM919481 JMJD1C c.3716T>A p.L1239* Substitution - Nonsense Endometrium COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM5485198 HCFC1 c.3894G>A p.A1298A Substitution - coding silent Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Liver COSM77290 ARID2 c.2357G>C p.G786A Substitution - Missense Ovary COSM5012858 INOC1 c.1814G>C p.R605T Substitution - Missense Kidney COSM383501 TRRAP c.6000G>T p.L2000L Substitution - coding silent Lung COSM1955351 EPC1 c.93C>T p.Y31Y Substitution - coding silent Large_intestine COSM4425091 ATRX c.6147G>C p.L2049F Substitution - Missense Oesophagus COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM5436828 HDAC4 c.1111C>A p.Q371K Substitution - Missense Oesophagus COSM1677556 RNF17 c.1141G>T p.D381Y Substitution - Missense Large_intestine COSM4955313 HDAC4 c.1119C>T p.A373A Substitution - coding silent Liver COSM5571194 C20orf20 c.89T>C p.V30A Substitution - Missense Prostate COSM1447015 MLL5 c.3462G>T p.K1154N Substitution - Missense Large_intestine COSM5426621 PYGO2 c.719A>T p.N240I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5638775 BRDT c.2000C>T p.S667L Substitution - Missense Oesophagus COSM921423 BTAF1 c.990G>T p.E330D Substitution - Missense Endometrium COSM1199586 CARM1 c.1439C>T p.T480M Substitution - Missense Large_intestine COSM369425 PRMT7 c.464C>T p.A155V Substitution - Missense Lung COSM4726213 SIRT7 c.427G>A p.A143T Substitution - Missense Large_intestine COSM3461545 KMT2D c.10369C>G p.R3457G Substitution - Missense Skin COSM4741218 WHSC1L1 c.245C>T p.T82I Substitution - Missense Large_intestine COSM340233 BRD8 c.3369G>T p.R1123S Substitution - Missense Lung COSM4590719 KAT2A c.1583C>T p.S528F Substitution - Missense Upper_aerodigestive_tract COSM1630066 NCOR1 c.515C>T p.S172L Substitution - Missense Upper_aerodigestive_tract COSM693647 KMT2D c.1557C>T p.P519P Substitution - coding silent Lung COSM4427849 NSD1 c.5965C>A p.Q1989K Substitution - Missense Oesophagus COSM150099 TDRD6 c.2820G>T p.L940F Substitution - Missense Stomach COSM5600286 PRMT10 c.743G>A p.R248K Substitution - Missense Skin COSM4986902 NCOA3 c.652C>T p.R218C Substitution - Missense Soft_tissue COSM5467850 HCFC1 c.5339T>C p.F1780S Substitution - Missense Large_intestine COSM5827144 EP400 c.8182_8184delCAG p.Q2748delQ Deletion - In frame Large_intestine COSM3406469 SMC1A c.3263T>C p.L1088P Substitution - Missense Central_nervous_system COSM6006423 SMARCB1 c.559_560ins11 p.V187fs*26 Insertion - Frameshift Central_nervous_system COSM1324521 L3MBTL4 c.1402A>T p.I468F Substitution - Missense Ovary COSM1716604 ATRX c.496delC p.H166fs*4 Deletion - Frameshift Central_nervous_system COSM4400675 EYA1 c.1409A>C p.E470A Substitution - Missense Skin COSM3355752 IDH2 c.429G>C p.L143L Substitution - coding silent Central_nervous_system COSM5617531 RBBP7 c.17-10C>T p.? Unknown Lung COSM53045 TET2 c.? p.L1360Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1625908 PHF16 c.1126G>A p.E376K Substitution - Missense Liver COSM5944307 EZH2 c.1119delC p.T374fs*50 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4926095 CDYL c.1019G>C p.R340T Substitution - Missense Liver COSM3855001 NIPBL c.467T>C p.V156A Substitution - Missense Stomach COSM4937637 EP400 c.282G>T p.L94L Substitution - coding silent Liver COSM685444 SFMBT2 c.535G>T p.G179W Substitution - Missense Lung COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4018337 KMT2A c.10041A>G p.Q3347Q Substitution - coding silent Stomach COSM3567456 MBD5 c.3055G>A p.V1019M Substitution - Missense Skin COSM5561542 PHRF1 c.4043C>T p.P1348L Substitution - Missense Prostate COSM2007124 KMT2D c.5474G>A p.R1825H Substitution - Missense Oesophagus COSM4438081 KMT2D c.13061C>T p.S4354L Substitution - Missense Oesophagus COSM5038138 PRDM9 c.2446A>C p.K816Q Substitution - Missense Skin COSM954414 CHD8 c.7588C>T p.R2530W Substitution - Missense Endometrium COSM4069622 ZBTB4 c.2365G>A p.A789T Substitution - Missense Stomach COSM5466058 SMARCA5 c.2591A>C p.D864A Substitution - Missense Large_intestine COSM3395366 CHD7 c.515C>T p.P172L Substitution - Missense Pancreas COSM3925560 EYA1 c.52G>A p.E18K Substitution - Missense Skin COSM324833 BRWD1 c.3632G>A p.R1211Q Substitution - Missense Lung COSM1265379 SFMBT2 c.690C>G p.D230E Substitution - Missense Oesophagus COSM1239439 KMT2A c.6185G>A p.R2062H Substitution - Missense Oesophagus COSM3702599 GABRG1 c.1049A>T p.E350V Substitution - Missense Liver COSM5614463 MYST2 c.975G>C p.R325S Substitution - Missense Lung COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5721303 TAF1L c.3585G>C p.G1195G Substitution - coding silent Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1757176 MLL5 c.3881A>T p.H1294L Substitution - Missense Urinary_tract COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1391110 MBD3 c.261C>T p.N87N Substitution - coding silent Large_intestine COSM1745256 ATAD2B_ENST00000238789 c.3278_3298del21 p.Q1093_G1100>R Complex - deletion inframe Urinary_tract COSM5518799 TRIM24 c.2537A>G p.K846R Substitution - Missense Biliary_tract COSM5982183 CHD8 c.5404G>A p.E1802K Substitution - Missense Upper_aerodigestive_tract COSM4660677 AIRE c.424G>A p.A142T Substitution - Missense Large_intestine COSM914342 ASXL1 c.? p.Y591* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4589552 BRWD3 c.4757G>A p.G1586E Substitution - Missense Bone COSM5585571 KDM6B c.1838C>T p.S613F Substitution - Missense Skin COSM4118098 SMARCC1 c.1468T>C p.Y490H Substitution - Missense Stomach COSM5616907 PHF12 c.2196A>G p.A732A Substitution - coding silent Lung COSM5890716 KMT2D c.4195C>T p.P1399S Substitution - Missense Skin COSM3720864 ARID1A c.5894C>T p.T1965I Substitution - Missense Upper_aerodigestive_tract COSM41606 CHD7 c.1668_2613dup p.556_871dup Insertion - In frame Lung COSM437202 BPTF c.5514C>G p.I1838M Substitution - Missense Breast COSM4462102 PRDM14 c.1233C>A p.Y411* Substitution - Nonsense Skin COSM1624107 CHD7 c.6630G>A p.E2210E Substitution - coding silent Liver COSM277238 SETD3 c.405A>C p.K135N Substitution - Missense Large_intestine COSM3596987 ATXN7 c.1125C>T p.V375V Substitution - coding silent Skin COSM4956144 PHF20 c.1466C>T p.P489L Substitution - Missense Liver COSM302732 NCOA6 c.795A>G p.Q265Q Substitution - coding silent Kidney COSM954444 CHD8 c.2276G>A p.S759N Substitution - Missense Endometrium COSM1301095 INOC1 c.3711A>G p.R1237R Substitution - coding silent Urinary_tract COSM331547 KMT2C c.1101T>C p.H367H Substitution - coding silent Lung COSM4791972 RBBP4 c.178G>C p.D60H Substitution - Missense Liver COSM5721302 TAF1L c.4374C>T p.Y1458Y Substitution - coding silent Skin COSM24930 HNF1A c.775G>C p.V259L Substitution - Missense Liver COSM3622305 ARID1B c.6592C>T p.L2198F Substitution - Missense Skin COSM115770 RERE c.1073G>A p.R358Q Substitution - Missense Ovary COSM916825 TRDMT1 c.984A>C p.Q328H Substitution - Missense Endometrium COSM469812 PRMT5 c.143C>T p.P48L Substitution - Missense Kidney COSM3550715 BRWD1 c.2860A>G p.K954E Substitution - Missense Skin COSM1603413 EPC1 c.816-3T>A p.? Unknown Liver COSM4146396 TRIM66 c.1381C>T p.P461S Substitution - Missense Thyroid COSM144567 PHF6 c.820C>T p.R274* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM30583 SMARCA4 c.?_?del? p.? Unknown Liver COSM30720 ASH1L c.46G>A p.E16K Substitution - Missense Pancreas COSM1361194 KDM5A c.1808G>A p.R603Q Substitution - Missense Large_intestine COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4386136 PHC1 c.1028G>A p.G343E Substitution - Missense Large_intestine COSM4603246 RNF134 c.84_85insGCCTCC p.P28_V29insAS Insertion - In frame Upper_aerodigestive_tract COSM5024570 SMYD5 c.671A>G p.D224G Substitution - Missense Large_intestine COSM5426235 ZMYM1 c.217G>A p.V73M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1705489 ARID2 c.577C>T p.L193F Substitution - Missense Skin COSM4776415 PRDM15 c.258_259insC p.R88fs*46 Insertion - Frameshift Thyroid COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4770446 CHD4 c.763G>A p.V255M Substitution - Missense Adrenal_gland COSM1719514 KMT2C c.5725C>G p.P1909A Substitution - Missense Skin COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM6000635 KDM5A c.1861G>A p.A621T Substitution - Missense Prostate COSM1746525 SUV420H1 c.1765G>A p.E589K Substitution - Missense Urinary_tract COSM3946874 KDM3B c.703G>A p.E235K Substitution - Missense Large_intestine COSM1111298 PHF2 c.1740T>G p.V580V Substitution - coding silent Endometrium COSM4957478 ERCC6 c.4401A>G p.R1467R Substitution - coding silent Liver COSM294443 HCFC1 c.2943G>A p.P981P Substitution - coding silent Large_intestine COSM4489120 DHX30 c.3432C>T p.A1144A Substitution - coding silent Skin COSM320129 EP300 c.5189C>T p.S1730F Substitution - Missense Lung COSM51422 ARID1A c.1680C>A p.Y560* Substitution - Nonsense Ovary COSM5025007 KMT2C c.2890G>C p.G964R Substitution - Missense Breast COSM218492 SRCAP c.980A>G p.E327G Substitution - Missense Pancreas COSM1636552 PHF16 c.2348A>C p.N783T Substitution - Missense Liver COSM5415257 MSH6 c.?_?delG p.?fs*? Unknown Endometrium COSM269411 KAT5 c.328A>G p.T110A Substitution - Missense Large_intestine COSM5790273 CHD7 c.1728G>T p.P576P Substitution - coding silent Breast COSM1483643 CHD6 c.689C>G p.S230C Substitution - Missense Breast COSM1026866 CHD6 c.4164G>T p.W1388C Substitution - Missense Endometrium COSM3730923 BRD9 c.86T>C p.L29P Substitution - Missense Stomach COSM939609 KDM5A c.645G>A p.P215P Substitution - coding silent Endometrium COSM2974806 TRIM28 c.2237G>A p.R746H Substitution - Missense Large_intestine COSM5455597 BAZ1B c.3581G>A p.G1194D Substitution - Missense Large_intestine COSM5885267 IDH2 c.515_516GG>AA p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM223135 ARID1B c.4051C>T p.Q1351* Substitution - Nonsense Skin COSM1262029 PHC2 c.818A>G p.Q273R Substitution - Missense Stomach COSM1469995 UTY c.3909A>T p.V1303V Substitution - coding silent Large_intestine COSM3988210 IDH2 c.207+2T>C p.? Unknown Kidney COSM1027525 ZMYND8 c.1718G>A p.R573H Substitution - Missense Endometrium COSM1301595 CHD2 c.199G>A p.E67K Substitution - Missense Urinary_tract COSM1738286 HDAC9 c.1757G>A p.R586H Substitution - Missense Ovary COSM5944516 TET2 c.4124_4125insT p.L1375fs*26 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1216526 MYST3 c.3893C>T p.P1298L Substitution - Missense Large_intestine COSM4055769 PYGO1 c.1216A>G p.T406A Substitution - Missense Stomach COSM740275 ARID1B c.5347G>C p.D1783H Substitution - Missense Lung COSM231560 DNMT3A c.2206C>T p.R736C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4949549 ARID2 c.4774-2A>G p.? Unknown Liver COSM1669122 KDM3A c.2491A>C p.N831H Substitution - Missense Large_intestine COSM1301787 GTF3C1 c.849+1G>T p.? Unknown Urinary_tract COSM1496296 BAG6 c.1161G>C p.R387R Substitution - coding silent Kidney COSM4677370 DHX30 c.770C>T p.T257M Substitution - Missense Large_intestine COSM3443979 KMT2A c.6370C>T p.R2124* Substitution - Nonsense Skin COSM87002 DNMT3A c.1627G>T p.G543C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM361011 HDAC9 c.2586G>A p.E862E Substitution - coding silent Lung COSM5168027 MINA c.87delG p.P30fs*4 Deletion - Frameshift Large_intestine COSM4493818 CHD8 c.4218C>T p.R1406R Substitution - coding silent Skin COSM3510269 FTO c.275C>T p.T92I Substitution - Missense Skin COSM4663273 ARID2 c.4583C>T p.A1528V Substitution - Missense Large_intestine COSM1233534 ZMYM4 c.2275C>T p.L759F Substitution - Missense Large_intestine COSM4651413 ADNP c.2091G>T p.Q697H Substitution - Missense Large_intestine COSM3414703 TDRD1 c.2752C>A p.H918N Substitution - Missense Large_intestine COSM4384787 KDM2B c.1273C>A p.P425T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4983914 KMT2D c.7097C>G p.S2366* Substitution - Nonsense Oesophagus COSM2218371 PYGO1 c.964delA p.S322fs*29 Deletion - Frameshift Large_intestine COSM3676545 AICDA c.431A>G p.Y144C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1137073 PBRM1 c.1677T>A p.Y559* Substitution - Nonsense Kidney COSM4987595 C5orf35 c.563A>G p.D188G Substitution - Missense Soft_tissue COSM1704226 MEN1 c.590_591CC>TT p.T197I Substitution - Missense Skin COSM953998 MTA1 c.602C>T p.A201V Substitution - Missense Large_intestine COSM96433 EP300 c.5095delA p.N1700fs*9 Deletion - Frameshift Large_intestine COSM1238724 DPF2 c.857C>T p.T286M Substitution - Missense Prostate COSM3901348 NCOA2 c.1025C>T p.S342F Substitution - Missense Stomach COSM5499275 SMYD4 c.1472C>T p.A491V Substitution - Missense Biliary_tract COSM4187703 TDRD6 c.3184G>A p.V1062I Substitution - Missense Kidney COSM5599941 KMT2D c.7252G>T p.E2418* Substitution - Nonsense Skin COSM2007122 KMT2D c.5544delC p.A1849fs*25 Deletion - Frameshift Breast COSM363443 KMT2C c.595C>T p.R199* Substitution - Nonsense Large_intestine COSM4110067 KDM5C c.1134G>A p.R378R Substitution - coding silent Stomach COSM4110082 KDM5C c.487C>T p.P163S Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5003398 RNF17 c.1144delG p.V382fs*21 Deletion - Frameshift Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2952794 TET2 c.3888T>C p.N1296N Substitution - coding silent Large_intestine COSM907701 ARID1A c.2348delC p.T783fs*50 Deletion - Frameshift Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM989 SMARCB1 c.1130G>A p.R377H Substitution - Missense Bone COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4950109 DNMT1 c.4570A>G p.S1524G Substitution - Missense Liver COSM1639819 ARID1A c.4550delC p.Q1519fs*8 Deletion - Frameshift Stomach COSM43430 TET2 c.5381_5385delCTAAT p.A1794fs*10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM359128 BPTF c.6321C>T p.S2107S Substitution - coding silent Large_intestine COSM5880054 PHF6 c.79_80insA p.C28fs*8 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5628750 KMT2D c.13603G>T p.E4535* Substitution - Nonsense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3381498 ARID1B c.4674G>A p.P1558P Substitution - coding silent Pancreas COSM1003 SMARCB1 c.1116G>A p.T372T Substitution - coding silent Ovary COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3399427 TDRD3 c.1418A>G p.K473R Substitution - Missense Central_nervous_system COSM302137 EP400 c.8181A>G p.Q2727Q Substitution - coding silent Prostate COSM4818671 CHD2 c.4793C>G p.S1598* Substitution - Nonsense Cervix COSM3874536 TDRD6 c.4966G>T p.E1656* Substitution - Nonsense Stomach COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1625901 KDM6A c.339A>G p.L113L Substitution - coding silent Liver COSM5549994 BRWD3 c.1450G>A p.A484T Substitution - Missense Prostate COSM211699 TET2 c.3081_3081delC p.M1028fs*5 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5726728 PRMT1 c.471G>A p.R157R Substitution - coding silent Skin COSM5016589 SMARCD2 c.697_710del14 p.K233fs*101 Deletion - Frameshift Kidney COSM1106556 BRD3 c.900G>A p.Q300Q Substitution - coding silent Endometrium COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5697543 PRDM15 c.1996G>A p.V666I Substitution - Missense Soft_tissue COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM3642816 TRRAP c.7907C>T p.P2636L Substitution - Missense Skin COSM4022233 POGZ c.2966C>T p.T989I Substitution - Missense Stomach COSM5729594 PHC2 c.319G>A p.A107T Substitution - Missense Skin COSM5625695 PHF14 c.1213C>T p.H405Y Substitution - Missense Oesophagus COSM5748877 BAZ2B c.1291C>T p.R431W Substitution - Missense Pancreas COSM3941288 PRDM9 c.469G>T p.E157* Substitution - Nonsense Oesophagus COSM931016 KDM2A c.990T>C p.Y330Y Substitution - coding silent Endometrium COSM4930085 EYA1 c.356A>G p.Q119R Substitution - Missense Liver COSM87188 TET2 c.5675_5676insA p.N1892fs*14 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4788496 KMT2D c.13857C>A p.P4619P Substitution - coding silent Liver COSM3740552 TRIM33 c.2689G>T p.G897* Substitution - Nonsense Liver COSM4940375 PHF21A c.1005A>G p.K335K Substitution - coding silent Liver COSM176342 PHIP c.4584G>T p.K1528N Substitution - Missense Endometrium COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Biliary_tract COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM26331 MECOM c.805G>A p.V269I Substitution - Missense Lung COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Stomach COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM29382 SMARCB1 c.1143delG p.A382fs*5 Deletion - Frameshift Central_nervous_system COSM88086 KMT2D c.15485G>A p.R5162Q Substitution - Missense Skin COSM132999 ARID1A c.3281_3281delA p.K1094fs*67 Deletion - Frameshift Large_intestine COSM135706 SETD1A c.5072A>G p.N1691S Substitution - Missense Skin COSM181638 JARID2 c.1786C>T p.R596W Substitution - Missense Large_intestine COSM174860 ARID1B c.6328C>T p.R2110* Substitution - Nonsense Oesophagus COSM199451 ZCWPW1 c.50G>T p.R17I Substitution - Missense Large_intestine COSM212452 CDYL2 c.82C>T p.R28* Substitution - Nonsense Skin COSM217408 HDAC9 c.3128T>A p.L1043Q Substitution - Missense Liver COSM213566 KDM2A c.1582C>T p.P528S Substitution - Missense Breast COSM231798 ARID1A c.4781C>T p.P1594L Substitution - Missense Skin COSM230693 KDM5A c.3781C>T p.R1261W Substitution - Missense Skin COSM255036 ZMYND8 c.1693C>T p.L565F Substitution - Missense Urinary_tract COSM269876 PHC1 c.331G>A p.A111T Substitution - Missense Large_intestine COSM276134 MTF2 c.1040G>A p.R347Q Substitution - Missense Large_intestine COSM288173 SMARCD3 c.1392G>A p.S464S Substitution - coding silent Large_intestine COSM315431 SMARCA2 c.3613G>T p.D1205Y Substitution - Missense Lung COSM307750 PBRM1 c.3123+1G>A p.? Unknown Kidney COSM318774 ARID4A c.2774T>C p.L925P Substitution - Missense Lung COSM306061 PHF6 c.821G>A p.R274Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM422793 PBRM1 c.2761C>T p.R921* Substitution - Nonsense Kidney COSM429693 KDM2A c.3307+2T>G p.? Unknown Oesophagus COSM459507 KDM5A c.955C>G p.H319D Substitution - Missense Cervix COSM478135 ACTR5 c.926A>G p.N309S Substitution - Missense Soft_tissue COSM483941 DAXX c.1353G>A p.E451E Substitution - coding silent Kidney COSM690579 RSF1 c.2813G>T p.C938F Substitution - Missense Lung COSM743056 PHIP c.4520G>A p.R1507K Substitution - Missense Lung COSM697920 BAZ1A c.3295C>G p.P1099A Substitution - Missense Lung COSM724853 C20orf20 c.541C>T p.R181W Substitution - Missense Lung COSM673961 KMT2C c.14543A>G p.N4848S Substitution - Missense Endometrium COSM908366 PRDM16 c.2692-1G>T p.? Unknown Endometrium COSM926916 ALKBH3 c.191G>A p.R64H Substitution - Missense Endometrium COSM934231 HCFC2 c.2130T>C p.Y710Y Substitution - coding silent Endometrium COSM933543 KDM4D c.244C>T p.R82W Substitution - Missense Oesophagus COSM1045674 SMARCC1 c.1180G>T p.D394Y Substitution - Missense Endometrium COSM1125453 ATRX c.4047C>T p.D1349D Substitution - coding silent Endometrium COSM1109531 UHRF2 c.1389T>C p.V463V Substitution - coding silent Endometrium COSM1121698 PHF16 c.1811G>A p.R604H Substitution - Missense Endometrium COSM1109686 KDM4C c.3108C>T p.A1036A Substitution - coding silent Endometrium COSM1093678 TRRAP c.8287G>A p.E2763K Substitution - Missense Endometrium COSM1716171 ASXL1 c.2878_2879delTG p.W960fs*9 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1087651 KMT2C c.1833G>T p.V611V Substitution - coding silent Endometrium COSM1196468 TAF3 c.221G>T p.G74V Substitution - Missense Lung COSM1200634 CDYL c.946A>T p.I316F Substitution - Missense Large_intestine COSM1162748 BRD9 c.928A>T p.M310L Substitution - Missense Upper_aerodigestive_tract COSM1583091 DNMT3A c.2062C>A p.R688S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1169700 TET2 c.1680_1681insNN p.K561fs*8 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1224804 SCML2 c.166C>G p.Q56E Substitution - Missense Large_intestine COSM1161120 MGA c.2075C>G p.S692* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1604426 PRMT3 c.1388G>C p.C463S Substitution - Missense Liver COSM1606528 CHD4 c.3709_3725del17 p.D1237fs*2 Deletion - Frameshift Liver COSM1317995 CBX5 c.122G>A p.W41* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1442328 PHF10 c.161G>A p.R54H Substitution - Missense Large_intestine COSM1554706 TAF1L c.189G>A p.K63K Substitution - coding silent Large_intestine COSM1472603 POGZ c.3618G>C p.E1206D Substitution - Missense Breast COSM1476604 KMT2D c.10056_10058delCCA p.Q3353delQ Deletion - In frame Breast COSM1610974 BAHCC1 c.18T>C p.F6F Substitution - coding silent Liver COSM1583072 DNMT3A c.1640T>C p.L547P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1625944 HDAC6 c.3436C>T p.L1146F Substitution - Missense Liver COSM1626107 TAF1 c.3392G>A p.R1131Q Substitution - Missense Liver COSM1678952 JMJD5 c.1250A>G p.*417W Nonstop extension Large_intestine COSM1715115 ZMYM3 c.1321C>T p.R441W Substitution - Missense Skin COSM1698976 TRRAP c.2456C>T p.S819L Substitution - Missense Skin COSM1730605 ING3 c.44C>T p.P15L Substitution - Missense Liver COSM1753423 MINA c.1089G>A p.V363V Substitution - coding silent Urinary_tract COSM1749559 SRCAP c.6G>A p.Q2Q Substitution - coding silent Urinary_tract COSM2006617 KMT2D c.14831G>A p.R4944H Substitution - Missense Large_intestine COSM2041419 KDM2A c.3192C>G p.P1064P Substitution - coding silent Oesophagus COSM2098420 CHD4 c.3909T>A p.I1303I Substitution - coding silent Upper_aerodigestive_tract COSM2797790 BPTF c.5107A>G p.T1703A Substitution - Missense Large_intestine COSM2828730 SETD5_ENST00000402198 c.261A>G p.E87E Substitution - coding silent Upper_aerodigestive_tract COSM3013843 PRDM9 c.1939C>T p.R647W Substitution - Missense Skin COSM3065145 HDAC10 c.310C>T p.R104W Substitution - Missense Upper_aerodigestive_tract COSM3290875 ACTR5 c.1442A>G p.K481R Substitution - Missense Large_intestine COSM3358384 ARID1A c.1993_1994delGG p.G665fs*10 Deletion - Frameshift Kidney COSM3402276 SRCAP c.7484C>G p.S2495C Substitution - Missense Central_nervous_system COSM3408967 TET2 c.2946G>C p.K982N Substitution - Missense Central_nervous_system COSM3488192 PRDM16 c.1029G>A p.V343V Substitution - coding silent Skin COSM3444011 KMT2A c.9449G>A p.S3150N Substitution - Missense Skin COSM3428200 SMARCA5 c.399G>T p.Q133H Substitution - Missense Large_intestine COSM3460971 ARID2 c.2881C>T p.Q961* Substitution - Nonsense Skin COSM3619167 PRDM1 c.288G>A p.R96R Substitution - coding silent Skin COSM3637560 STK31 c.2483C>T p.S828L Substitution - Missense Skin COSM3546372 CHD6 c.2159C>T p.S720F Substitution - Missense Skin COSM3514740 RAI1 c.1713C>A p.S571S Substitution - coding silent Skin COSM3656833 TAF1L c.4768G>A p.D1590N Substitution - Missense Skin COSM3670330 SETD2 c.349C>T p.R117* Substitution - Nonsense Central_nervous_system COSM3707921 DIDO1 c.2917A>G p.S973G Substitution - Missense Liver COSM3717864 AP001011.3_ENST00000320876 c.5029A>G p.I1677V Substitution - Missense Liver COSM3719895 EZH2 c.2029+1G>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3715912 ELP3 c.85G>A p.A29T Substitution - Missense Upper_aerodigestive_tract COSM3736917 NIPBL c.2021A>G p.N674S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3761611 JARID2 c.1206C>T p.P402P Substitution - coding silent Bone COSM3749092 PWWP2B c.1062G>C p.V354V Substitution - coding silent Large_intestine COSM3750310 PRDM2 c.4824A>G p.S1608S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3941646 PHF10 c.972C>A p.C324* Substitution - Nonsense Oesophagus COSM3819902 MYST2 c.895G>C p.E299Q Substitution - Missense Breast COSM3912956 PHF21B c.327C>A p.P109P Substitution - coding silent Skin COSM3923406 STK31 c.844G>A p.E282K Substitution - Missense Skin COSM3879970 HDAC9 c.306C>A p.L102L Substitution - coding silent Stomach COSM3965560 BRWD3 c.4141G>T p.A1381S Substitution - Missense Lung COSM3973672 PHF16 c.361A>G p.T121A Substitution - Missense Central_nervous_system COSM3954847 KMT2D c.673G>C p.E225Q Substitution - Missense Lung COSM4040274 EP400 c.5402C>T p.P1801L Substitution - Missense Stomach COSM4109542 KDM6A c.185T>C p.F62S Substitution - Missense Stomach COSM4114054 ZBTB38 c.1895C>A p.P632Q Substitution - Missense Stomach COSM4070655 BAHCC1 c.5877A>G p.R1959R Substitution - coding silent Stomach COSM4161255 TDRD6 c.599T>G p.V200G Substitution - Missense Upper_aerodigestive_tract COSM4386116 KMT2C c.929G>T p.C310F Substitution - Missense Large_intestine COSM4383855 TET2 c.2504C>A p.S835* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4523160 TRIM28 c.1200G>A p.K400K Substitution - coding silent Skin COSM4425803 SIRT3 c.808-4C>G p.? Unknown Oesophagus COSM4499144 CHD6 c.5354C>T p.S1785L Substitution - Missense Skin COSM4435973 TAF1L c.4601T>C p.V1534A Substitution - Missense Oesophagus COSM4493176 SETD1B c.751C>T p.P251S Substitution - Missense Skin COSM4516424 DHX30 c.1911_1912CC>TT p.R638W Substitution - Missense Skin COSM4638061 BRD3 c.1257C>T p.P419P Substitution - coding silent Large_intestine COSM4748259 ZMYND11 c.16G>A p.G6S Substitution - Missense Stomach COSM4748897 PRDM16 c.1039A>T p.T347S Substitution - Missense Stomach COSM4754415 SETD2 c.3190G>A p.A1064T Substitution - Missense Stomach COSM4796453 DOT1L c.907G>A p.V303M Substitution - Missense Liver COSM4808352 BAZ1B c.1629G>A p.R543R Substitution - coding silent Pancreas COSM4828599 CHD7 c.7204A>G p.R2402G Substitution - Missense Cervix COSM4818089 TAF3 c.854C>G p.S285* Substitution - Nonsense Cervix COSM4959250 HDAC9 c.2587G>A p.V863I Substitution - Missense Liver COSM4969932 SETD5_ENST00000402198 c.1137C>T p.I379I Substitution - coding silent Central_nervous_system COSM5031019 KDM6A c.197G>A p.G66D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5077815 CHD8 c.2070_2080>GA p.D691_R693delDKR Deletion - In frame Large_intestine COSM5065044 NSD1 c.4444C>T p.Q1482* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5230002 ARID1B c.6279delC p.Y2094fs*4 Deletion - Frameshift Breast COSM5366109 NCOA6 c.3408T>C p.S1136S Substitution - coding silent Large_intestine COSM5396601 HDAC4 c.972G>A p.P324P Substitution - coding silent Skin COSM5414253 ATRX c.1669G>A p.E557K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5516128 PRDM2 c.3544_3545insT p.L1183fs*15 Insertion - Frameshift Biliary_tract COSM5500575 BAZ1A c.4387-9A>G p.? Unknown Biliary_tract COSM5452438 ARID1A c.1235A>G p.Q412R Substitution - Missense Large_intestine COSM5653170 MBD6 c.479G>A p.G160D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5715409 DOT1L c.2024G>A p.G675E Substitution - Missense Skin COSM5720583 BRPF3 c.1092C>T p.P364P Substitution - coding silent Skin COSM5603476 EP400 c.8156_8157insCCA p.R2719>SQ Complex - insertion inframe Skin COSM5702301 SETBP1 c.4731_4732GG>TT p.E1577_E1578>D* Complex - compound substitution Soft_tissue COSM5879024 TET2 c.3813C>A p.C1271* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5799970 PRDM2 c.664G>A p.E222K Substitution - Missense Breast COSM5811398 PHC1 c.1047G>A p.V349V Substitution - coding silent Liver COSM5945316 CREBBP c.4246G>T p.E1416* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5938954 SP140_ENST00000392045 c.1667G>A p.G556E Substitution - Missense Skin COSM6003218 INO80C c.215G>T p.G72V Substitution - Missense Prostate COSM6008297 BPTF c.6889C>G p.P2297A Substitution - Missense Prostate COSM6004733 BRWD1 c.3900+7T>C p.? Unknown Prostate COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM4169539 TET2 c.? p.E783fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM5967235 EZH2 c.? p.Y701H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM131566 IDH2 c.? p.R172G Substitution - Missense Central_nervous_system COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43117 TET2 c.1_6009del6009 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM1676321 RSF1 c.3643A>G p.I1215V Substitution - Missense Skin COSM5352202 NIPBL c.5595_5596insA p.R1867fs*12 Insertion - Frameshift Kidney COSM1667934 POGZ c.3712G>T p.E1238* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5446319 KMT2C c.2446_2447insA p.Y816fs*1 Insertion - Frameshift Thyroid COSM3473517 SETDB1 c.451C>T p.R151C Substitution - Missense Skin COSM478246 NCOA3 c.3565C>G p.Q1189E Substitution - Missense Kidney COSM5781614 MBD6 c.601C>T p.P201S Substitution - Missense Breast COSM4293948 DIDO1 c.4924A>C p.T1642P Substitution - Missense Upper_aerodigestive_tract COSM4606887 ASH2L c.1862G>A p.R621K Substitution - Missense Adrenal_gland COSM4571831 METTL21D c.552T>C p.I184I Substitution - coding silent Skin COSM680172 ARID1A c.3662T>C p.M1221T Substitution - Missense Lung COSM4805273 ZBTB38 c.1913G>T p.C638F Substitution - Missense Liver COSM5510982 DOT1L c.1991C>T p.P664L Substitution - Missense Biliary_tract COSM232658 L3MBTL3 c.1627C>T p.P543S Substitution - Missense Skin COSM5468672 DNMT3A c.1122+7G>A p.? Unknown Large_intestine COSM41644 TET2 c.1648C>T p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5985976 NCOR1 c.2062C>T p.R688* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1618132 SETD5_ENST00000402198 c.359T>C p.L120P Substitution - Missense Liver COSM4663244 ARID1B c.1889G>T p.S630I Substitution - Missense Large_intestine COSM5409745 CHD7 c.4760C>T p.P1587L Substitution - Missense Skin COSM928933 GLYATL1 c.875C>A p.P292Q Substitution - Missense Endometrium COSM4817124 TRRAP c.10060G>C p.E3354Q Substitution - Missense Cervix COSM709523 SETBP1 c.2327T>A p.M776K Substitution - Missense Lung COSM1216534 KAT6B c.1028G>A p.G343E Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Prostate COSM3770262 BRPF3 c.731A>G p.Y244C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM100055 TET2 c.4256C>G p.P1419R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4498803 BPTF c.4907C>T p.S1636F Substitution - Missense Skin COSM3430024 EYA4 c.528C>T p.A176A Substitution - coding silent Large_intestine COSM4158240 ACTR8 c.113C>T p.S38L Substitution - Missense Thyroid COSM4940458 TDRD1 c.3541A>G p.T1181A Substitution - Missense Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4849391 ZCWPW1 c.1125C>A p.N375K Substitution - Missense Cervix COSM4898623 CDYL2 c.1029C>T p.I343I Substitution - coding silent Skin COSM5446932 PHRF1 c.3119G>A p.R1040H Substitution - Missense Large_intestine COSM5651493 CREBBP c.4445A>C p.Y1482S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM940062 KMT2D c.4335G>A p.A1445A Substitution - coding silent Endometrium COSM5576438 BAZ2A c.675C>T p.S225S Substitution - coding silent Skin COSM41292 IDH1 c.? p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4736789 TRRAP c.9130G>A p.V3044M Substitution - Missense Large_intestine COSM41292 IDH1 c.? p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1707392 ARID4A c.3401C>T p.P1134L Substitution - Missense Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5639367 PRDM9 c.1303C>A p.Q435K Substitution - Missense Oesophagus COSM41294 IDH1 c.? p.R132C Substitution - Missense Biliary_tract COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4823170 FMR1 c.357A>G p.K119K Substitution - coding silent Cervix COSM4080205 KDM4B c.111G>A p.S37S Substitution - coding silent Stomach COSM4689693 HDAC6 c.3091_3092insC p.T1034fs*55 Insertion - Frameshift Breast COSM85916 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3850366 BRD8 c.3130C>T p.Q1044* Substitution - Nonsense Stomach COSM4665048 BAHCC1 c.2663A>G p.H888R Substitution - Missense Large_intestine COSM1600923 ASH1L c.4224_4225delTT p.Y1409fs*32 Deletion - Frameshift Liver COSM4110073 KDM5C c.957C>T p.A319A Substitution - coding silent Stomach COSM5752239 KMT2C c.7478delC p.P2493fs*22 Deletion - Frameshift Breast COSM147495 KMT2D c.11700A>G p.P3900P Substitution - coding silent Soft_tissue COSM5600456 SETD5_ENST00000402198 c.974T>G p.V325G Substitution - Missense Skin COSM5360126 ZMYND11 c.943C>T p.R315C Substitution - Missense Large_intestine COSM1047001 PHF7 c.275G>A p.R92Q Substitution - Missense Endometrium COSM5801997 ARID1A c.1108_1109insG p.Q372fs*28 Insertion - Frameshift Breast COSM3841280 ADNP c.1948A>T p.I650F Substitution - Missense Breast COSM318895 BAZ2A c.1702G>A p.G568R Substitution - Missense Lung COSM1377488 SRCAP c.9297C>T p.S3099S Substitution - coding silent Stomach COSM5600286 PRMT10 c.743G>A p.R248K Substitution - Missense Skin COSM4863345 CHD4 c.3389G>A p.G1130D Substitution - Missense Endometrium COSM4115151 PHC3 c.1757G>A p.R586Q Substitution - Missense Stomach COSM1177566 HDAC7 c.1024G>A p.E342K Substitution - Missense Endometrium COSM1108215 TAF1L c.4722G>T p.K1574N Substitution - Missense Endometrium COSM1159250 ARID2 c.1716-1G>A p.? Unknown Pancreas COSM142309 ASXL1 c.1945G>T p.G649* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM139232 L3MBTL2 c.1496C>T p.P499L Substitution - Missense Skin COSM435534 CTCF c.850C>T p.H284Y Substitution - Missense Breast COSM4429545 SFMBT2 c.1789G>T p.E597* Substitution - Nonsense Oesophagus COSM3824013 SETD2 c.251C>G p.S84C Substitution - Missense Breast COSM271988 AICDA c.213C>A p.D71E Substitution - Missense Large_intestine COSM3598864 TET2 c.2874G>A p.Q958Q Substitution - coding silent Skin COSM415323 KMT2A c.7974G>C p.K2658N Substitution - Missense Urinary_tract COSM216072 BAZ1B c.2932G>T p.A978S Substitution - Missense Central_nervous_system COSM3863736 TDRD5 c.1941C>T p.F647F Substitution - coding silent Skin COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3488229 PRDM16 c.2278G>A p.D760N Substitution - Missense Skin COSM1753989 BRD8 c.671C>T p.S224F Substitution - Missense Upper_aerodigestive_tract COSM4491526 KDM4A c.381C>T p.F127F Substitution - coding silent Skin COSM5388195 MBD1 c.1747C>T p.R583C Substitution - Missense Skin COSM1577289 ASXL1 c.? p.?fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM1333996 POGZ c.1093C>T p.P365S Substitution - Missense Large_intestine COSM3859842 JARID2 c.2206C>A p.P736T Substitution - Missense Stomach COSM938867 PRMT8 c.394G>A p.A132T Substitution - Missense Endometrium COSM94274 KDM2A c.2206G>C p.V736L Substitution - Missense Lung COSM43412 TET2 c.?_?del? p.?fs Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5423657 UHRF2 c.2137G>C p.V713L Substitution - Missense Prostate COSM4031595 PHC2 c.1542G>A p.P514P Substitution - coding silent Stomach COSM1211343 KAT2A c.595T>G p.F199V Substitution - Missense Large_intestine COSM167143 RNF2 c.77G>A p.R26Q Substitution - Missense Stomach COSM1021255 MSH6 c.297G>T p.K99N Substitution - Missense Endometrium COSM3656850 TAF1L c.2814C>T p.F938F Substitution - coding silent Skin COSM3365363 BAP1 c.932-2A>G p.? Unknown Kidney COSM3665298 CHRAC1 c.43C>G p.R15G Substitution - Missense Oesophagus COSM4384606 KMT2A c.7223G>A p.S2408N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4788379 NSD1 c.1119T>A p.S373S Substitution - coding silent Liver COSM1296224 ARID1A c.3598C>T p.Q1200* Substitution - Nonsense Skin COSM5980946 GTF3C1 c.1383G>T p.M461I Substitution - Missense Upper_aerodigestive_tract COSM3704971 POGZ c.3135A>G p.V1045V Substitution - coding silent Liver COSM1099589 WHSC1L1 c.1194G>A p.Q398Q Substitution - coding silent Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1567386 WHSC1 c.469A>T p.N157Y Substitution - Missense Large_intestine COSM5586867 TRRAP c.5575C>T p.P1859S Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM894184 TRIM33 c.1782G>C p.Q594H Substitution - Missense Endometrium COSM5608147 CREBBP c.1076T>C p.V359A Substitution - Missense Skin COSM3662731 PHIP c.1829A>T p.E610V Substitution - Missense Liver COSM3704971 POGZ c.3135A>G p.V1045V Substitution - coding silent Liver COSM3353039 TDRD6 c.450_451insC p.A152fs*8 Insertion - Frameshift Large_intestine COSM4170393 KMT2D c.14694delC p.I4899fs*74 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1731944 KMT2D c.1143delC p.T382fs*20 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4186223 SETD8 c.464A>C p.Q155P Substitution - Missense Breast COSM3426176 SP140_ENST00000392045 c.1727G>T p.R576I Substitution - Missense Breast COSM1360186 EP400 c.8178A>G p.Q2726Q Substitution - coding silent Large_intestine COSM308280 KMT2C c.9934C>T p.Q3312* Substitution - Nonsense Breast COSM1322067 KDM4D c.1130T>A p.L377H Substitution - Missense Ovary COSM4430992 MECOM c.759A>T p.Q253H Substitution - Missense Oesophagus COSM4956181 LMNB2 c.1009G>A p.E337K Substitution - Missense Liver COSM4572915 TDRKH c.906T>C p.F302F Substitution - coding silent Skin COSM704898 NCOR1 c.59A>T p.Y20F Substitution - Missense Lung COSM22033 NCOA3 c.1496C>T p.P499L Substitution - Missense Lung COSM5675315 PRDM15 c.335G>T p.R112L Substitution - Missense Soft_tissue COSM3406621 BRWD3 c.631G>A p.D211N Substitution - Missense Central_nervous_system COSM96419 EP300 c.4195G>T p.D1399Y Substitution - Missense Oesophagus COSM1681832 DIDO1 c.3559C>T p.P1187S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5373651 RSF1 c.1038G>A p.Q346Q Substitution - coding silent Skin COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96419 EP300 c.4195G>T p.D1399Y Substitution - Missense Lung COSM4544443 MGA c.3574G>A p.E1192K Substitution - Missense Skin COSM5721302 TAF1L c.4374C>T p.Y1458Y Substitution - coding silent Skin COSM1087588 KMT2C c.6082C>T p.R2028* Substitution - Nonsense Breast COSM4566535 POGZ c.4056_4057CC>TT p.(=) Unknown Skin COSM2158575 JMJD1C c.1020_1021insA p.D341fs*3 Insertion - Frameshift Large_intestine COSM1128983 SRCAP c.2952A>C p.P984P Substitution - coding silent Prostate COSM940036 KMT2D c.7264C>T p.R2422W Substitution - Missense Endometrium COSM4848533 MECOM c.1870G>C p.D624H Substitution - Missense Cervix COSM5945072 TET2 c.5620G>A p.E1874K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96367 BAP1 c.122+2T>A p.? Unknown Kidney COSM5708589 TBL1XR1 c.866C>T p.T289I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM274064 ATAD2 c.637G>T p.E213* Substitution - Nonsense Large_intestine COSM4879143 KDM6A c.3349A>T p.N1117Y Substitution - Missense Prostate COSM221609 TET2 c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4466945 KDM4A c.1462C>T p.L488F Substitution - Missense Skin COSM1977997 PRDM10 c.2841G>A p.S947S Substitution - coding silent Large_intestine COSM3907050 KIAA1045 c.170A>G p.E57G Substitution - Missense Stomach COSM3878479 TRIM24 c.390C>T p.C130C Substitution - coding silent Stomach COSM5988452 BAZ2A c.3874T>A p.S1292T Substitution - Missense Salivary_gland COSM4765635 NCOR1 c.1585_1586insA p.E530fs*6 Insertion - Frameshift Stomach COSM3968730 CHD8 c.6114A>C p.P2038P Substitution - coding silent Central_nervous_system COSM1132511 TAF1L c.2605G>A p.A869T Substitution - Missense Prostate COSM1716801 TET2 c.? p.P1889L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4382803 AICDA c.526C>T p.L176F Substitution - Missense Large_intestine COSM4792886 CHD6 c.1306A>T p.K436* Substitution - Nonsense Liver COSM3708081 AIRE c.538+6C>T p.? Unknown Liver COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4163506 BRD3 c.1982C>T p.A661V Substitution - Missense Thyroid COSM4110906 TAF1 c.3656A>G p.E1219G Substitution - Missense Stomach COSM4790934 GTF3C4 c.1437G>A p.G479G Substitution - coding silent Liver COSM3798078 BAZ2B c.1777G>A p.G593R Substitution - Missense Urinary_tract COSM5933949 SMARCA4 c.2189C>T p.S730F Substitution - Missense Skin COSM1716936 ATRX c.7094C>T p.S2365L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM51996 TET2 c.? p.Y2001* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5887614 POGZ c.1276C>T p.P426S Substitution - Missense Upper_aerodigestive_tract COSM681943 RERE c.3951G>T p.R1317R Substitution - coding silent Thyroid COSM5772390 KDM3B c.3308-7T>A p.? Unknown Breast COSM4007326 ZMYM6 c.3404C>T p.T1135I Substitution - Missense Stomach COSM3847990 BRD3 c.1568T>G p.V523G Substitution - Missense Breast COSM5755107 SMARCD2 c.602T>A p.V201D Substitution - Missense Large_intestine COSM468681 BAZ2A c.4490G>T p.R1497L Substitution - Missense Kidney COSM5822383 ELP3 c.1463A>C p.D488A Substitution - Missense Liver COSM4653519 TCF20 c.2676C>T p.T892T Substitution - coding silent Large_intestine COSM1634545 SHPRH c.3076G>A p.E1026K Substitution - Missense Liver COSM5895315 TP53BP1 c.2702-4delT p.? Unknown Upper_aerodigestive_tract COSM4717454 PRDM12 c.57G>A p.A19A Substitution - coding silent Large_intestine COSM3760322 TET2 c.5284A>G p.I1762V Substitution - Missense Thyroid COSM1683459 ARID2 c.2610_2611insT p.Q871fs*80 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4598986 KDM1A c.541G>C p.D181H Substitution - Missense Upper_aerodigestive_tract COSM3717765 BAHCC1 c.4720C>T p.R1574C Substitution - Missense Prostate COSM1208372 GLYR1 c.136T>A p.F46I Substitution - Missense Large_intestine COSM1026851 CHD6 c.5992G>T p.E1998* Substitution - Nonsense Endometrium COSM241372 RBBP4 c.118C>G p.L40V Substitution - Missense Prostate COSM1301883 SRCAP c.4573C>G p.L1525V Substitution - Missense Urinary_tract COSM5754035 ING1 c.672C>G p.I224M Substitution - Missense Large_intestine COSM1044882 SETMAR c.1689C>T p.I563I Substitution - coding silent Endometrium COSM945411 ING1 c.679G>T p.D227Y Substitution - Missense Endometrium COSM4664636 ATRX c.1115A>C p.K372T Substitution - Missense Large_intestine COSM1696934 SIRT5 c.460C>T p.L154F Substitution - Missense Skin COSM3794150 MGA c.7845G>A p.R2615R Substitution - coding silent Urinary_tract COSM390705 PHC2 c.2538G>A p.L846L Substitution - coding silent Lung COSM1084550 ING3 c.739A>C p.S247R Substitution - Missense Endometrium COSM1215016 MGA c.6366T>G p.N2122K Substitution - Missense Large_intestine COSM5011102 SETD2 c.2806C>T p.P936S Substitution - Missense Kidney COSM5367824 ACTR6 c.260_261insT p.L89fs*4 Insertion - Frameshift Large_intestine COSM4383899 TET2 c.3315_3316delAG p.E1106fs*23 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3529589 BRD4 c.1705C>T p.P569S Substitution - Missense Skin COSM1663997 RSF1 c.1111A>G p.T371A Substitution - Missense Kidney COSM1114025 ZBTB33 c.911C>G p.S304C Substitution - Missense Endometrium COSM1359408 HNF1A c.392G>T p.R131L Substitution - Missense Central_nervous_system COSM459180 BAZ1A c.2939G>C p.R980T Substitution - Missense Cervix COSM716185 BAZ2B c.3388G>T p.D1130Y Substitution - Missense Lung COSM1640982 SETBP1 c.1890G>A p.A630A Substitution - coding silent Skin COSM3932734 ZBTB4 c.1009T>G p.Y337D Substitution - Missense Urinary_tract COSM1045668 SMARCC1 c.1472G>A p.R491Q Substitution - Missense Central_nervous_system COSM1360187 EP400 c.8184G>A p.Q2728Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4728605 SMYD1 c.343_344delGA p.E117fs*61 Deletion - Frameshift Large_intestine COSM1360187 EP400 c.8184G>A p.Q2728Q Substitution - coding silent Large_intestine COSM5921852 L3MBTL2 c.719-7C>T p.? Unknown Skin COSM4104942 BRD1 c.1265C>A p.S422Y Substitution - Missense Stomach COSM674208 PBRM1 c.1007_1011CAGTA>T p.A336fs*25 Complex - frameshift Kidney COSM146934 ERCC6 c.2751C>T p.G917G Substitution - coding silent Soft_tissue COSM3546373 CHD6 c.1936C>T p.P646S Substitution - Missense Skin COSM392336 ASH1L c.8683_8684insA p.T2895fs*5 Insertion - Frameshift Skin COSM757134 SUV39H1 c.614A>G p.Y205C Substitution - Missense Lung COSM700637 MGA c.4541C>T p.S1514L Substitution - Missense Lung COSM4437346 TET2 c.2141C>A p.S714* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3832336 KMT2C c.9907A>C p.T3303P Substitution - Missense Breast COSM4721057 RERE c.254G>A p.R85H Substitution - Missense Large_intestine COSM1621962 PHIP c.4643C>G p.S1548C Substitution - Missense Liver COSM1390033 DNMT1 c.687G>A p.T229T Substitution - coding silent Large_intestine COSM4591023 KMT2C c.871C>T p.L291F Substitution - Missense Upper_aerodigestive_tract COSM1660738 BAZ2B c.722G>C p.S241T Substitution - Missense Kidney COSM1600772 SETDB1 c.3028delG p.E1011fs*19 Deletion - Frameshift Liver COSM5779515 YY1 c.1205C>A p.S402Y Substitution - Missense Breast COSM4846752 RAI1 c.2827G>C p.E943Q Substitution - Missense Cervix COSM3021763 JARID2 c.643A>C p.T215P Substitution - Missense Large_intestine COSM1107711 SMARCA2 c.1663_1664insAGA p.K558_R559insK Insertion - In frame Endometrium COSM2221609 EED c.28C>T p.P10S Substitution - Missense Bone COSM240078 HCFC1 c.406C>A p.L136I Substitution - Missense Prostate COSM1081850 PHIP c.3874G>A p.V1292M Substitution - Missense Endometrium COSM1583139 DNMT3A c.2255T>G p.F752C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4712698 PCGF6 c.300C>A p.D100E Substitution - Missense Large_intestine COSM3948315 ARID1B c.2627C>T p.A876V Substitution - Missense Lung COSM4093217 NCOA1 c.3260G>A p.G1087D Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4602837 KDM2A c.3487T>G p.*1163E Nonstop extension Upper_aerodigestive_tract COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM372494 SUV39H1 c.1153C>G p.L385V Substitution - Missense Lung COSM401299 PRDM10 c.807A>T p.E269D Substitution - Missense Lung COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3401227 CHD8 c.2487-2A>G p.? Unknown Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5038875 BAZ2A_ENST00000379441 c.4093G>T p.A1365S Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3642826 TRRAP c.9054C>T p.I3018I Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1255496 KDM4D c.1347C>A p.G449G Substitution - coding silent Stomach COSM3026300 STK31 c.1490A>C p.K497T Substitution - Missense Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5948753 SETD2 c.4208A>C p.K1403T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4480459 ASXL3 c.1541C>A p.T514N Substitution - Missense Skin COSM1109593 KDM4C c.1868C>T p.T623M Substitution - Missense Endometrium COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1009 SMARCB1 c.897G>A p.S299S Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1087659 KMT2C c.947C>G p.T316S Substitution - Missense Endometrium COSM3501002 INOC1 c.2597C>T p.P866L Substitution - Missense Skin COSM5990062 TET2 c.2006_2007insT p.A671fs*10 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4789643 CHD7 c.947G>T p.S316I Substitution - Missense Liver COSM3709942 SFMBT2 c.1880G>A p.R627H Substitution - Missense Upper_aerodigestive_tract COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM150645 TDRD7 c.449T>C p.V150A Substitution - Missense Prostate COSM357430 TAF1L c.3239G>T p.R1080L Substitution - Missense Lung COSM3548790 DIDO1 c.3802C>T p.P1268S Substitution - Missense Skin COSM5945067 TET2 c.5156G>A p.G1719E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1581659 SETD2 c.1147C>G p.L383V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1300051 MPHOSPH8 c.178G>C p.E60Q Substitution - Missense Urinary_tract COSM1077621 BAG6 c.3084G>A p.P1028P Substitution - coding silent Endometrium COSM5694476 MINA c.429T>C p.F143F Substitution - coding silent Soft_tissue COSM4680844 ELP3 c.425A>T p.Y142F Substitution - Missense Large_intestine COSM211688 TET2 c.2158C>T p.Q720* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4604622 BRD4 c.1948G>A p.D650N Substitution - Missense Upper_aerodigestive_tract COSM1441824 ARID1B c.4429C>T p.R1477C Substitution - Missense Large_intestine COSM3396684 KMT2C c.12594T>G p.C4198W Substitution - Missense Prostate COSM4980705 EZH2 c.637C>T p.R213C Substitution - Missense Oesophagus COSM3550699 BRWD1 c.4937T>C p.V1646A Substitution - Missense Skin COSM4766105 TET2 c.4713_4714insA p.R1572fs*6 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5775409 PRDM10 c.2854C>G p.H952D Substitution - Missense Breast COSM3995024 TDRD6 c.2382C>G p.N794K Substitution - Missense Kidney COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Endometrium COSM4071704 SMCHD1 c.788A>C p.K263T Substitution - Missense Stomach COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM1002 SMARCB1 c.118C>T p.R40* Substitution - Nonsense Central_nervous_system COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43436 TET2 c.973C>T p.Q325* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41875 IDH2 c.419G>T p.R140L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52980 EZH2 c.2069G>A p.R690H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM75104 KDM3B c.2623C>A p.L875M Substitution - Missense Ovary COSM70449 DIDO1 c.998C>T p.A333V Substitution - Missense Ovary COSM137451 BAG6 c.1225C>T p.P409S Substitution - Missense Skin COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Upper_aerodigestive_tract COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Skin COSM168243 PRDM9 c.58C>T p.R20W Substitution - Missense Large_intestine COSM184236 ARID1A c.2077C>T p.R693* Substitution - Nonsense Central_nervous_system COSM231558 DNMT3A c.1741T>A p.W581R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM268763 BRD8 c.399C>G p.H133Q Substitution - Missense Large_intestine COSM256354 ASH1L c.2972C>A p.T991N Substitution - Missense Large_intestine COSM294807 SFMBT2 c.2044G>A p.D682N Substitution - Missense Large_intestine COSM312116 KDM4B c.1991C>T p.A664V Substitution - Missense Lung COSM318488 ACTB c.35A>G p.N12S Substitution - Missense Lung COSM325527 IDH1 c.1138A>T p.I380F Substitution - Missense Lung COSM417732 BRD4 c.1510G>A p.E504K Substitution - Missense Urinary_tract COSM430757 EP400 c.6660C>T p.D2220D Substitution - coding silent Large_intestine COSM468461 KMT2D c.969C>T p.C323C Substitution - coding silent Kidney COSM471552 GTF3C1 c.3722G>T p.S1241I Substitution - Missense Kidney COSM987903 ASXL3 c.640G>T p.D214Y Substitution - Missense Endometrium COSM485790 TRRAP c.8108T>G p.L2703R Substitution - Missense Kidney COSM689356 PHRF1 c.2539G>A p.E847K Substitution - Missense Lung COSM695009 APOBEC1 c.97C>T p.R33C Substitution - Missense Lung COSM954000 MTA1 c.978C>A p.Y326* Substitution - Nonsense Endometrium COSM1028113 PCNA c.738C>A p.H246Q Substitution - Missense Endometrium COSM1031234 DNMT3L c.726C>T p.Y242Y Substitution - coding silent Endometrium COSM745475 TIF1 c.1887A>G p.S629S Substitution - coding silent Lung COSM710749 DOT1L c.2462G>C p.G821A Substitution - Missense Oesophagus COSM707110 JMJD6 c.912G>T p.G304G Substitution - coding silent Lung COSM734375 GABRG1 c.941C>A p.T314K Substitution - Missense Lung COSM738840 PRDM13 c.1748C>A p.S583* Substitution - Nonsense Lung COSM900302 TDRD5 c.1814C>T p.S605L Substitution - Missense Large_intestine COSM927116 PHF21A c.788G>T p.R263M Substitution - Missense Endometrium COSM896912 ASH1L c.6790A>G p.K2264E Substitution - Missense Endometrium COSM1602180 EYA3 c.993+6T>C p.? Unknown Liver COSM1043293 KAT2B c.1622+2T>C p.? Unknown Endometrium COSM970600 CREBBP c.2015G>A p.R672H Substitution - Missense Endometrium COSM1109483 KIAA2026_ENST00000399933 c.615G>A p.T205T Substitution - coding silent Endometrium COSM1114803 SMARCA1 c.1242G>T p.K414N Substitution - Missense Endometrium COSM1095775 ATAD2 c.429A>G p.E143E Substitution - coding silent Endometrium COSM1184951 BRPF1 c.2836C>T p.R946C Substitution - Missense Large_intestine COSM1235219 ARID1A c.3440C>T p.P1147L Substitution - Missense Skin COSM1257797 KMT2C c.1072T>G p.F358V Substitution - Missense Oesophagus COSM1235384 BAP1 c.68-9_72del14 p.? Unknown Eye COSM1266228 SMARCA4 c.2450_2458delACTGGGCGT p.W818_Y820delWAY Deletion - In frame Oesophagus COSM1185295 RERE c.1222C>T p.L408F Substitution - Missense Lung COSM1185322 PRDM2 c.2338G>T p.D780Y Substitution - Missense Lung COSM1294194 PRDM1 c.421C>G p.Q141E Substitution - Missense Cervix COSM1333456 PRDM2 c.3481C>T p.P1161S Substitution - Missense Large_intestine COSM1442421 KDM1B c.34G>T p.A12S Substitution - Missense Large_intestine COSM1447012 MLL5 c.2613delA p.K873fs*8 Deletion - Frameshift Large_intestine COSM1458071 NCOA2 c.1607C>T p.A536V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1342112 ZMYM1 c.1510delA p.T506fs*15 Deletion - Frameshift Large_intestine COSM1351663 KMT2A c.9863G>T p.R3288I Substitution - Missense Large_intestine COSM1368700 MTA1 c.701G>A p.R234Q Substitution - Missense Large_intestine COSM1559267 TRIM33 c.157G>C p.A53P Substitution - Missense Central_nervous_system COSM1612590 KDM4B c.73T>C p.F25L Substitution - Missense Liver COSM1583098 DNMT3A c.2137C>T p.L713F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1582959 HNF1A c.499G>A p.V167I Substitution - Missense Meninges COSM1635513 TRRAP c.6907A>T p.S2303C Substitution - Missense Liver COSM1639784 SMYD3 c.764G>A p.S255N Substitution - Missense Stomach COSM1664267 SMARCA2 c.395A>C p.E132A Substitution - Missense Kidney COSM1751423 PHF20 c.1094C>T p.S365F Substitution - Missense Urinary_tract COSM1732165 PBRM1 c.3049G>T p.V1017F Substitution - Missense Kidney COSM1742795 ARID1A c.4823A>G p.H1608R Substitution - Missense Biliary_tract COSM1734306 PHF20 c.2312A>G p.H771R Substitution - Missense Pancreas COSM2261797 YY1 c.683delA p.D231fs*25 Deletion - Frameshift Stomach COSM2834884 CHD9 c.4287G>T p.K1429N Substitution - Missense Large_intestine COSM2874965 EYA1 c.277C>T p.P93S Substitution - Missense Large_intestine COSM2965375 KDM6A c.2199C>A p.H733Q Substitution - Missense Upper_aerodigestive_tract COSM3160324 PHF3 c.4732A>G p.I1578V Substitution - Missense Urinary_tract COSM3257620 ING3 c.271G>A p.D91N Substitution - Missense Large_intestine COSM3318007 PHF20L1 c.809delA p.K272fs*>14 Deletion - Frameshift Large_intestine COSM3360056 RNF17 c.1219A>T p.I407F Substitution - Missense Kidney COSM3399270 ZMYM2 c.2442T>C p.P814P Substitution - coding silent Central_nervous_system COSM3508915 SRCAP c.6957C>T p.F2319F Substitution - coding silent Skin COSM3429309 NSD1 c.3537G>T p.E1179D Substitution - Missense Large_intestine COSM3457111 HNF1A c.1581C>T p.T527T Substitution - coding silent Skin COSM3547672 ADNP c.213A>G p.T71T Substitution - coding silent Skin COSM3555540 BRD1 c.2098+2T>C p.? Unknown Skin COSM3662251 JARID2 c.1307G>A p.G436E Substitution - Missense Liver COSM3697498 L3MBTL3 c.2057G>A p.R686H Substitution - Missense Large_intestine COSM3687789 KDM2A c.2462C>T p.A821V Substitution - Missense Large_intestine COSM3716319 PHF2 c.1969G>T p.G657C Substitution - Missense Upper_aerodigestive_tract COSM3770482 KDM6B c.2684C>A p.P895H Substitution - Missense Soft_tissue COSM3811574 ATF7IP c.2265A>C p.A755A Substitution - coding silent Breast COSM3848239 SMARCA2 c.705G>A p.Q235Q Substitution - coding silent Stomach COSM3883694 TRRAP c.541G>A p.E181K Substitution - Missense Stomach COSM3883754 TRRAP c.7758G>T p.E2586D Substitution - Missense Stomach COSM3901370 EYA1 c.1486G>A p.V496M Substitution - Missense Stomach COSM3948417 GTF3C1 c.2911A>T p.R971W Substitution - Missense Ovary COSM3967850 RSF1 c.3347A>G p.Q1116R Substitution - Missense Central_nervous_system COSM4030430 SMYD3 c.1004G>C p.R335T Substitution - Missense Stomach COSM4041878 KDM5A c.1346C>T p.P449L Substitution - Missense Stomach COSM4040254 EP400 c.4355C>T p.T1452M Substitution - Missense Stomach COSM4040552 ATF7IP c.3684T>C p.C1228C Substitution - coding silent Stomach COSM3987442 TDRD3 c.25G>A p.G9S Substitution - Missense Kidney COSM4111265 BRWD3 c.3082C>T p.P1028S Substitution - Missense Stomach COSM4137454 CBX6 c.255C>G p.A85A Substitution - coding silent Ovary COSM4387147 PSIP1 c.952C>T p.Q318* Substitution - Nonsense Lung COSM4391402 ASXL1 c.124G>A p.G42R Substitution - Missense Breast COSM4401899 KDM5A c.2287T>G p.L763V Substitution - Missense Skin COSM4507156 POGZ c.738C>T p.S246S Substitution - coding silent Skin COSM4488611 KDM3A c.3355C>G p.L1119V Substitution - Missense Skin COSM4523658 PHF8 c.1119G>A p.K373K Substitution - coding silent Skin COSM4499808 HCFC1 c.5218C>T p.P1740S Substitution - Missense Skin COSM4554976 ING4 c.634G>C p.D212H Substitution - Missense Skin COSM4504444 BRWD1 c.665C>G p.S222C Substitution - Missense Skin COSM4591727 ARID1A c.3163T>C p.Y1055H Substitution - Missense Upper_aerodigestive_tract COSM4490387 KMT2C c.3631C>T p.Q1211* Substitution - Nonsense Skin COSM4509064 HDAC1 c.795C>T p.S265S Substitution - coding silent Skin COSM4453301 EP400 c.2775A>C p.A925A Substitution - coding silent Skin COSM4717476 PRDM14 c.423C>T p.G141G Substitution - coding silent Large_intestine COSM4728289 SMARCA4 c.417G>A p.P139P Substitution - coding silent Large_intestine COSM4665036 BAG6 c.1039C>T p.R347* Substitution - Nonsense Large_intestine COSM4649337 KIAA2026_ENST00000399933 c.3891C>T p.N1297N Substitution - coding silent Large_intestine COSM4655997 ING3 c.1051G>A p.V351I Substitution - Missense Large_intestine COSM4641632 HNF1A c.1699G>A p.V567I Substitution - Missense Large_intestine COSM4754331 TDRD6 c.704A>C p.K235T Substitution - Missense Stomach COSM4797283 KIAA2026_ENST00000399933 c.5125G>A p.A1709T Substitution - Missense Liver COSM4792832 SETD1A c.2208G>A p.G736G Substitution - coding silent Liver COSM4884534 HCFC1 c.2181C>A p.G727G Substitution - coding silent Upper_aerodigestive_tract COSM4909142 KMT2C c.1050G>A p.P350P Substitution - coding silent Large_intestine COSM4922848 KMT2C c.14735G>T p.*4912L Nonstop extension Liver COSM4841991 TRRAP c.9686G>C p.G3229A Substitution - Missense Cervix COSM4835748 L3MBTL3 c.1078G>C p.E360Q Substitution - Missense Cervix COSM4957033 CHD4 c.1421A>G p.H474R Substitution - Missense Liver COSM4966964 TTF2 c.1406G>A p.S469N Substitution - Missense Central_nervous_system COSM4996021 CHD6 c.5220C>A p.S1740R Substitution - Missense Upper_aerodigestive_tract COSM4995405 KDM1A c.254C>T p.A85V Substitution - Missense Upper_aerodigestive_tract COSM4995711 RAI1 c.1729G>A p.G577S Substitution - Missense Upper_aerodigestive_tract COSM5011671 NCOA7 c.196G>A p.D66N Substitution - Missense Kidney COSM5341237 EPC1 c.900C>T p.P300P Substitution - coding silent Large_intestine COSM5375174 ARID2 c.720C>T p.I240I Substitution - coding silent Skin COSM5405454 TDRD6 c.4624G>A p.E1542K Substitution - Missense Skin COSM5360576 KMT2A c.10511C>A p.A3504D Substitution - Missense Large_intestine COSM5490541 BAP1 c.438-1G>T p.? Unknown Biliary_tract COSM5506486 CHD2 c.498_499delAG p.S168fs*1 Deletion - Frameshift Biliary_tract COSM5483073 EP300 c.1612A>C p.N538H Substitution - Missense Large_intestine COSM5434727 PRDM9 c.372C>T p.F124F Substitution - coding silent Skin COSM5456345 CBX5 c.325-1G>A p.? Unknown Large_intestine COSM5702613 SET c.701A>G p.E234G Substitution - Missense Liver COSM5638862 ACTR6 c.70G>A p.V24I Substitution - Missense Oesophagus COSM5752051 CREBBP c.5848C>CT p.Q1950fs*16 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM5723996 BRD3 c.640C>T p.P214S Substitution - Missense Skin COSM5715829 ZMYM3 c.3450C>T p.N1150N Substitution - coding silent Skin COSM5719265 KDM4A c.683C>T p.P228L Substitution - Missense Skin COSM5748960 ZMYM3 c.2206C>T p.R736C Substitution - Missense Pancreas COSM5744946 TRRAP c.8249G>A p.R2750Q Substitution - Missense Pancreas COSM5741008 HDAC5 c.3330-1G>T p.? Unknown Small_intestine COSM5576818 KMT2D c.12511G>A p.G4171R Substitution - Missense Skin COSM5600370 RNF17 c.344A>G p.K115R Substitution - Missense Skin COSM5602392 TAF1L c.3709G>A p.E1237K Substitution - Missense Skin COSM5692571 JMJD5 c.951C>A p.I317I Substitution - coding silent Soft_tissue COSM5699454 CHD7 c.7213A>T p.R2405* Substitution - Nonsense Soft_tissue COSM5710405 SND1 c.710G>A p.G237D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5708593 TBL1XR1 c.809T>G p.F270C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5785860 ELP3 c.1238A>C p.H413P Substitution - Missense Breast COSM5793057 HDAC6 c.829C>T p.R277C Substitution - Missense Breast COSM5791908 JMJD1C c.4857A>C p.A1619A Substitution - coding silent Breast COSM5817867 NCOA2 c.4301A>G p.D1434G Substitution - Missense Liver COSM5944820 KDM6A c.3337_3338insT p.S1114fs*37 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5945245 KDM5A c.1445G>A p.W482* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5896937 EHMT1 c.1018C>T p.P340S Substitution - Missense Skin COSM5979868 EPC1 c.551_552insA p.N184fs*23 Insertion - Frameshift Upper_aerodigestive_tract COSM5988076 GTF3C1 c.1712C>T p.A571V Substitution - Missense Salivary_gland COSM3735000 TET2 c.? p.N7S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Central_nervous_system COSM53162 TET2 c.? p.R1465Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1666861 ARID1A c.? p.Q507* Substitution - Nonsense Urinary_tract COSM53116 TET2 c.? p.A619fs*19 Frameshift Haematopoietic_and_lymphoid_tissue COSM1270986 ZMYM1 c.2922T>C p.T974T Substitution - coding silent Oesophagus COSM3615212 PRDM9 c.1309C>T p.Q437* Substitution - Nonsense Skin COSM3769770 MECOM c.2404C>A p.Q802K Substitution - Missense Soft_tissue COSM164472 SMARCD1 c.958C>T p.Q320* Substitution - Nonsense Oesophagus COSM4057175 MORF4L1 c.312C>T p.Y104Y Substitution - coding silent Stomach COSM300159 SFMBT2 c.1198C>T p.R400* Substitution - Nonsense Stomach COSM4454490 RSF1 c.506A>G p.Q169R Substitution - Missense Skin COSM6002458 CHD3 c.2451G>A p.T817T Substitution - coding silent Prostate COSM41886 TET2 c.? p.L1398R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3637020 HDAC9 c.1258C>T p.P420S Substitution - Missense Skin COSM1266519 SP110 c.1425A>T p.L475F Substitution - Missense Oesophagus COSM2749483 LMNB2 c.1626C>T p.T542T Substitution - coding silent Large_intestine COSM5708591 TBL1XR1 c.845T>C p.L282P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1100852 CHD7 c.5926C>T p.R1976C Substitution - Missense Endometrium COSM4072574 MBD2 c.977C>T p.A326V Substitution - Missense Stomach COSM1495172 PRDM15 c.797T>C p.V266A Substitution - Missense Kidney COSM3488295 PHC2 c.892A>C p.S298R Substitution - Missense Skin COSM415324 KMT2A c.7516G>C p.E2506Q Substitution - Missense Urinary_tract COSM577035 NCOA6 c.1831G>T p.G611C Substitution - Missense Endometrium COSM3720984 BRD7 c.846C>T p.A282A Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM279875 CHD8 c.3068C>T p.A1023V Substitution - Missense Large_intestine COSM1167604 KMT2A c.10201delC p.P3401fs*20 Deletion - Frameshift Skin COSM1179107 KMT2C c.851G>A p.R284Q Substitution - Missense Soft_tissue COSM423995 TDRD10 c.541C>T p.R181* Substitution - Nonsense Stomach COSM5708600 TBL1XR1 c.502C>G p.H168D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4300099 L3MBTL2 c.700T>C p.S234P Substitution - Missense Upper_aerodigestive_tract COSM1041555 ACTL6A c.490C>T p.R164C Substitution - Missense Bone COSM326330 RBBP5 c.1541G>T p.G514V Substitution - Missense Lung COSM3675777 ERCC6 c.2751C>G p.G917G Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4387995 PHF10 c.241G>T p.E81* Substitution - Nonsense Pancreas COSM13867 EP300 c.4355C>T p.P1452L Substitution - Missense Large_intestine COSM3824751 BRPF1 c.3225C>T p.G1075G Substitution - coding silent Breast COSM5347225 ARID1A c.?_?del? p.R1528fs*? Deletion - Frameshift Endometrium COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM23020 MEN1 c.1324C>T p.Q442* Substitution - Nonsense Parathyroid COSM3767635 INTS12 c.950A>G p.N317S Substitution - Missense Liver COSM4618304 ZBTB38 c.393G>A p.P131P Substitution - coding silent Large_intestine COSM4681113 EP400 c.2462delG p.K823fs*8 Deletion - Frameshift Large_intestine COSM3578903 SP140_ENST00000392045 c.1693G>A p.A565T Substitution - Missense Skin COSM5456650 KDM6B c.1106G>A p.R369Q Substitution - Missense Large_intestine COSM1183836 ASXL1 c.2266G>A p.D756N Substitution - Missense Large_intestine COSM389740 BRWD3 c.5138G>T p.G1713V Substitution - Missense Lung COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3361760 CREBBP c.3622C>A p.P1208T Substitution - Missense Kidney COSM3080629 ACTL6B c.467C>G p.A156G Substitution - Missense Large_intestine COSM1381124 NCOR1 c.4629C>T p.S1543S Substitution - coding silent Large_intestine COSM5399745 PHF7 c.526C>T p.Q176* Substitution - Nonsense Skin COSM1310086 GABRG1 c.1153G>T p.G385* Substitution - Nonsense Urinary_tract COSM5745168 HCFC2 c.1442A>G p.D481G Substitution - Missense Pancreas COSM3290860 ACTR5 c.894G>A p.R298R Substitution - coding silent Large_intestine COSM3154295 PRDM1 c.869G>A p.R290H Substitution - Missense Stomach COSM4159839 PRDM9 c.2042C>G p.T681S Substitution - Missense Upper_aerodigestive_tract COSM1411087 ASXL1 c.2530_2531insC p.S846fs*5 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4100481 ZGPAT c.885C>T p.D295D Substitution - coding silent Stomach COSM5519869 SUV39H1 c.1037G>A p.R346H Substitution - Missense Biliary_tract COSM3777802 PHF3 c.1784C>G p.S595C Substitution - Missense Urinary_tract COSM4433310 LMNB1 c.1192G>A p.V398M Substitution - Missense Oesophagus COSM4954548 BAP1 c.1908G>T p.L636L Substitution - coding silent Liver COSM346054 ASH2L c.1244G>C p.G415A Substitution - Missense Lung COSM21194 TRIM33 c.3255C>T p.T1085T Substitution - coding silent Skin COSM88790 EP300 c.4408delA p.M1470fs*26 Deletion - Frameshift Stomach COSM5945810 BAP1 c.1730-2A>G p.? Unknown Peritoneum COSM5043390 SUV420H1 c.764C>A p.S255Y Substitution - Missense Liver COSM4665053 BAHCC1 c.5511C>T p.F1837F Substitution - coding silent Soft_tissue COSM3656868 TAF1L c.1215G>A p.R405R Substitution - coding silent Skin COSM87001 DNMT3A c.2644C>A p.R882S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4168318 KDM5C c.151-1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM908427 PHC2 c.1357G>A p.A453T Substitution - Missense Endometrium COSM1444076 BRPF3 c.762G>A p.W254* Substitution - Nonsense Large_intestine COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM84116 KMT2A c.7770T>G p.N2590K Substitution - Missense Pancreas COSM4487109 RBBP5 c.313C>T p.R105* Substitution - Nonsense Skin COSM1186659 PHF17 c.1624G>T p.V542L Substitution - Missense Lung COSM309266 ARID1B c.2493T>A p.A831A Substitution - coding silent Lung COSM1625330 MORF4L2 c.227G>C p.R76T Substitution - Missense Liver COSM1677122 MBD6 c.2942C>T p.A981V Substitution - Missense Large_intestine COSM923571 KMT2A c.1219C>T p.R407* Substitution - Nonsense Endometrium COSM1266263 AP001011.3_ENST00000320876 c.5366+5_5366+6insA p.? Unknown Stomach COSM26586 SMARCA4 c.4801C>T p.R1601W Substitution - Missense Large_intestine COSM5364512 L3MBTL4 c.461-3delT p.? Unknown Large_intestine COSM1184384 KMT2C c.3922T>C p.S1308P Substitution - Missense Large_intestine COSM349454 KDM6B c.803T>A p.L268Q Substitution - Missense Lung COSM934525 PRDM4 c.923A>G p.N308S Substitution - Missense Kidney COSM487313 SMARCA2 c.3684+1G>A p.? Unknown Kidney COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5783486 KDM4B c.407A>G p.D136G Substitution - Missense Breast COSM4694058 MYST3 c.2977_2979delGAG p.E993delE Deletion - In frame Soft_tissue COSM4163031 CHD7 c.3240C>A p.I1080I Substitution - coding silent Thyroid COSM2808574 AP001011.3_ENST00000320876 c.2782C>T p.R928C Substitution - Missense Stomach COSM378531 NCOA2 c.656A>T p.E219V Substitution - Missense Lung COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Central_nervous_system COSM3819723 HDAC5 c.2375G>A p.W792* Substitution - Nonsense Breast COSM1041700 FXR1 c.1594A>C p.N532H Substitution - Missense Endometrium COSM3901329 PRDM14 c.281G>A p.W94* Substitution - Nonsense Skin COSM1662352 MYST1 c.1106T>A p.L369Q Substitution - Missense Kidney COSM4423513 TDRKH c.301A>G p.I101V Substitution - Missense Central_nervous_system COSM1205092 EHMT1 c.1858G>A p.V620M Substitution - Missense Large_intestine COSM5671043 KMT2D c.11261A>T p.K3754M Substitution - Missense Soft_tissue COSM894180 TRIM33 c.2399G>A p.G800D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1615193 SMYD1 c.335G>A p.W112* Substitution - Nonsense Large_intestine COSM473995 L3MBTL4 c.68G>A p.R23H Substitution - Missense Kidney COSM5762043 SETD2 c.1010delA p.N337fs*2 Deletion - Frameshift Pancreas COSM5359720 TAF1L c.2533C>T p.R845* Substitution - Nonsense Large_intestine COSM1377483 SRCAP c.8096C>T p.A2699V Substitution - Missense Large_intestine COSM4819236 KDM5A c.674C>G p.S225* Substitution - Nonsense Cervix COSM4467463 KMT2D c.1490C>T p.P497L Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2183588 POGZ c.2390G>T p.R797L Substitution - Missense Large_intestine COSM4514097 SMYD3 c.785C>T p.P262L Substitution - Missense Skin COSM251292 ATF7IP c.255_256insA p.A86fs*13 Insertion - Frameshift Liver COSM39390 TDRD5 c.2774G>A p.R925H Substitution - Missense Central_nervous_system COSM1661273 CREBBP c.2567C>T p.T856I Substitution - Missense Kidney COSM1583405 SETDB1 c.268A>G p.T90A Substitution - Missense Endometrium COSM5853682 KDM6B c.941C>T p.P314L Substitution - Missense Skin COSM1363347 MBD6 c.2194delC p.Q734fs*18 Deletion - Frameshift Large_intestine COSM4054576 MGA c.7995G>T p.V2665V Substitution - coding silent Stomach COSM5593372 TAF3 c.328C>T p.P110S Substitution - Missense Skin COSM100071 TET2 c.4471A>T p.K1491* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5745565 RERE c.3860A>G p.Y1287C Substitution - Missense Pancreas COSM941539 SMARCC2 c.3297T>C p.F1099F Substitution - coding silent Endometrium COSM954427 CHD8 c.5222C>T p.P1741L Substitution - Missense Endometrium COSM3745630 KMT2C c.7455A>C p.P2485P Substitution - coding silent Liver COSM4796387 JMJD1C c.903G>A p.K301K Substitution - coding silent Liver COSM1713594 EYA2 c.500C>T p.P167L Substitution - Missense Skin COSM120177 TET2 c.3851C>T p.S1284F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4717468 PRDM13 c.1546G>A p.A516T Substitution - Missense Large_intestine COSM343305 IDH1 c.448G>T p.G150* Substitution - Nonsense Lung COSM1195643 RERE c.589G>A p.V197M Substitution - Missense Lung COSM5817870 CTCF c.1230T>C p.Y410Y Substitution - coding silent Liver COSM4896164 CHD8 c.1900G>A p.E634K Substitution - Missense Skin COSM5064698 PHF16 c.1890C>T p.C630C Substitution - coding silent Stomach COSM3885403 SETDB2 c.1492A>T p.I498F Substitution - Missense Skin COSM4623383 PHF13 c.278T>G p.L93R Substitution - Missense Large_intestine COSM1041696 FXR1 c.876C>T p.L292L Substitution - coding silent Endometrium COSM53043 IDH1 c.297A>G p.I99M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3580135 ING5 c.42C>T p.I14I Substitution - coding silent Skin COSM2030160 CHD8 c.1387C>T p.R463W Substitution - Missense Large_intestine COSM931223 SUV420H1 c.173C>T p.S58L Substitution - Missense Stomach COSM4954408 BAZ1B c.2595G>A p.V865V Substitution - coding silent Liver COSM1386945 CBX2 c.1397G>A p.S466N Substitution - Missense Large_intestine COSM1666859 ARID1A c.? p.S334* Substitution - Nonsense Urinary_tract COSM4837982 DAXX c.1095G>C p.R365R Substitution - coding silent Cervix COSM5752254 ARID1A c.722_747del26 p.S241fs*1 Deletion - Frameshift Breast COSM238441 WHSC1 c.3858C>T p.D1286D Substitution - coding silent Large_intestine COSM1684930 BPTF c.8053C>G p.P2685A Substitution - Missense Lung COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4832209 BRWD3 c.3955C>A p.R1319S Substitution - Missense Cervix COSM1220361 PHF20 c.2392A>G p.T798A Substitution - Missense Large_intestine COSM4384306 KMT2C c.12220G>A p.G4074S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1167993 ARID2 c.3937C>T p.Q1313* Substitution - Nonsense Skin COSM468037 EP400 c.8226A>G p.Q2742Q Substitution - coding silent Thyroid COSM3422283 L3MBTL4 c.151G>A p.A51T Substitution - Missense Large_intestine COSM1476565 ARID2 c.1653G>A p.S551S Substitution - coding silent Breast COSM4572920 SETD3 c.908T>A p.F303Y Substitution - Missense Skin COSM3589881 MECOM c.1180C>A p.L394I Substitution - Missense Skin COSM1221881 PRDM15 c.2437G>A p.A813T Substitution - Missense Large_intestine COSM4788115 MECOM c.1877C>G p.S626C Substitution - Missense Liver COSM221609 TET2 c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4702512 KMT2C c.2907A>C p.G969G Substitution - coding silent Large_intestine COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4437803 SRCAP c.9164C>T p.S3055F Substitution - Missense Oesophagus COSM254975 TDRD1 c.2866T>C p.Y956H Substitution - Missense Urinary_tract COSM1083 SMARCB1 c.?_?del? p.?del Deletion - In frame Central_nervous_system COSM2150379 BAZ1B c.1150A>T p.I384F Substitution - Missense Central_nervous_system COSM3113465 SETD1A c.220delT p.S75fs*19 Deletion - Frameshift Large_intestine COSM87109 TET2 c.2855_2856insT p.R953fs*19 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3750651 TDRD5 c.1362C>T p.D454D Substitution - coding silent Large_intestine COSM5813155 SMARCC1 c.2433A>T p.E811D Substitution - Missense Liver COSM5816412 KMT2C c.10491C>T p.S3497S Substitution - coding silent Liver COSM5243171 TP53BP1 c.874C>T p.Q292* Substitution - Nonsense Skin COSM1221888 PRDM2 c.4094C>T p.T1365M Substitution - Missense Large_intestine COSM488630 ATRX c.5081A>G p.N1694S Substitution - Missense Kidney COSM1979953 PHF21A c.492T>C p.S164S Substitution - coding silent Upper_aerodigestive_tract COSM1108216 TAF1L c.4659G>T p.K1553N Substitution - Missense Endometrium COSM3689710 KDM4A c.2614G>A p.D872N Substitution - Missense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4015482 SFMBT2 c.2308G>A p.V770M Substitution - Missense Pancreas COSM5806526 ZBTB38 c.799A>G p.K267E Substitution - Missense Liver COSM3359760 KMT2D c.9796C>T p.R3266C Substitution - Missense Kidney COSM5465133 BAZ2B c.3383T>C p.I1128T Substitution - Missense Large_intestine COSM3561976 HDAC6 c.1476C>T p.H492H Substitution - coding silent Skin COSM916829 TRDMT1 c.587A>C p.K196T Substitution - Missense Endometrium COSM3579793 HDAC4 c.2245C>T p.L749F Substitution - Missense Skin COSM5652003 PRMT5 c.1889delG p.G630fs*>8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM757511 ATRX c.5807A>C p.K1936T Substitution - Missense Lung COSM4969558 L3MBTL4 c.460+9G>T p.? Unknown Central_nervous_system COSM1211265 JMJD1C c.3761T>G p.F1254C Substitution - Missense Large_intestine COSM909997 DMAP1 c.707G>A p.R236Q Substitution - Missense Endometrium COSM5352283 ARID1A c.? p.R2233W Substitution - Missense Endometrium COSM5644036 RNF17 c.1653A>G p.L551L Substitution - coding silent Oesophagus COSM289942 KMT2C c.2447_2448insA p.Y816fs*1 Insertion - Frameshift Oesophagus COSM3825899 GABRG1 c.12G>C p.L4F Substitution - Missense Breast COSM4124867 GABRG1 c.412A>G p.N138D Substitution - Missense Stomach COSM931017 KDM2A c.1552A>C p.K518Q Substitution - Missense Endometrium COSM5006580 SETD2 c.?_?del? p.?fs Deletion - Frameshift Kidney COSM5996929 ARID1B c.6042C>G p.S2014S Substitution - coding silent Prostate COSM961501 MGA c.2568G>A p.Q856Q Substitution - coding silent Endometrium COSM5640159 KMT2A c.9154G>A p.D3052N Substitution - Missense Oesophagus COSM1682269 CBX6 c.947C>T p.S316F Substitution - Missense Large_intestine COSM3390784 ATRX c.5911G>A p.D1971N Substitution - Missense Pancreas COSM4424438 KDM5C c.1327G>C p.D443H Substitution - Missense Oesophagus COSM3112841 SRCAP c.1725C>T p.P575P Substitution - coding silent Large_intestine COSM1665368 BAP1 c.38-1_38delGG p.? Unknown Pleura COSM1041038 PHC3 c.2182G>A p.V728I Substitution - Missense Endometrium COSM3723034 PHF2 c.2976C>A p.T992T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1578530 HELLS c.1971+1_1971+2insT p.? Unknown Meninges COSM5924712 SETBP1 c.4403C>T p.S1468F Substitution - Missense Skin COSM1749374 IDH2 c.144G>T p.K48N Substitution - Missense Urinary_tract COSM981689 AKAP1 c.2074G>A p.A692T Substitution - Missense Endometrium COSM3906174 EHMT1 c.1930G>A p.A644T Substitution - Missense Stomach COSM5954082 RBBP7 c.759-1G>A p.? Unknown Upper_aerodigestive_tract COSM255111 MEN1 c.205_206insC p.D70fs*47 Insertion - Frameshift Parathyroid COSM4998655 NCOA2 c.2045C>T p.S682L Substitution - Missense Pancreas COSM4068927 BPTF c.5474G>T p.R1825I Substitution - Missense Stomach COSM3705787 PRDM16 c.2618G>A p.R873Q Substitution - Missense Liver COSM5100264 ATRX c.5090G>A p.S1697N Substitution - Missense Large_intestine COSM1307827 PRDM15 c.4029G>C p.Q1343H Substitution - Missense Urinary_tract COSM1363122 BAZ2A_ENST00000379441 c.4518_4519insC p.K1507fs*26 Insertion - Frameshift Large_intestine COSM1122185 HDAC6 c.1121C>T p.A374V Substitution - Missense Endometrium COSM3681681 MECP2 c.635T>G p.V212G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4914435 PRDM9 c.1997G>A p.C666Y Substitution - Missense Liver COSM87172 TET2 c.4824T>G p.Y1608* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4788665 MLL5 c.32C>T p.T11I Substitution - Missense Liver COSM4110229 PHF8 c.1607G>C p.G536A Substitution - Missense Stomach COSM2753086 PRMT1 c.289A>G p.S97G Substitution - Missense Large_intestine COSM3780932 EP400 c.7775-7T>G p.? Unknown Pancreas COSM1565662 ATAD2B_ENST00000238789 c.4246G>A p.A1416T Substitution - Missense Large_intestine COSM3395978 JMJD1C c.1934G>A p.W645* Substitution - Nonsense Prostate COSM5361951 EP400 c.5166G>A p.E1722E Substitution - coding silent Large_intestine COSM5410601 GTF3C4 c.1325C>T p.S442F Substitution - Missense Skin COSM1606150 ARID2 c.5110G>T p.E1704* Substitution - Nonsense Liver COSM1665121 ZMYM6 c.256G>T p.V86F Substitution - Missense Kidney COSM5577218 ZMYND8 c.2429C>T p.P810L Substitution - Missense Skin COSM28790 KDM6A c.2122G>T p.G708* Substitution - Nonsense Lung COSM4464835 MBD6 c.1354C>T p.Q452* Substitution - Nonsense Skin COSM214588 TET2 c.817C>T p.Q273* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5100418 EHMT2 c.2355_2356insG p.W786fs*30 Insertion - Frameshift Large_intestine COSM5482616 KDM3A c.3216C>T p.P1072P Substitution - coding silent Large_intestine COSM5723420 BAZ1B c.1510C>A p.R504S Substitution - Missense Skin COSM1560600 DMAP1 c.509G>A p.R170H Substitution - Missense Large_intestine COSM961365 INOC1 c.1530G>A p.Q510Q Substitution - coding silent Endometrium COSM5746059 SP140_ENST00000392045 c.1156G>A p.E386K Substitution - Missense Pancreas COSM72737 SMARCA4 c.2896C>T p.R966W Substitution - Missense Large_intestine COSM5031968 POGZ c.1234G>T p.D412Y Substitution - Missense Pancreas COSM51209 TET2 c.4642C>T p.Q1548* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM211751 TET2 c.5711A>G p.H1904R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM225885 KMT2C c.1139G>T p.R380L Substitution - Missense Skin COSM5742954 SMARCC1 c.1672G>A p.V558I Substitution - Missense Small_intestine COSM5406144 MLL5 c.3176G>A p.G1059E Substitution - Missense Skin COSM4924158 RAI1 c.2663A>T p.Q888L Substitution - Missense Liver COSM4995456 KDM4A c.613C>T p.P205S Substitution - Missense Upper_aerodigestive_tract COSM1643903 PHF2 c.833T>C p.I278T Substitution - Missense Stomach COSM3463557 BAZ2A c.617C>T p.S206F Substitution - Missense Skin COSM1560993 PCGF6 c.83_84insGCCTCC p.P28_V29insPP Insertion - In frame Large_intestine COSM3956102 ARID4A c.1011C>T p.G337G Substitution - coding silent Lung COSM1673693 KMT2C c.14665G>A p.D4889N Substitution - Missense Kidney COSM3772894 CHD8 c.3937G>A p.A1313T Substitution - Missense Pancreas COSM3735002 TET2 c.? p.C1221fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM969251 GTF3C1 c.4015G>A p.E1339K Substitution - Missense Endometrium COSM162773 KAT6B c.5041G>A p.E1681K Substitution - Missense Stomach COSM322975 RAG2 c.452G>A p.S151N Substitution - Missense Lung COSM483942 DAXX c.700C>T p.R234C Substitution - Missense Kidney COSM931209 SUV420H1 c.2347C>T p.R783* Substitution - Nonsense Endometrium COSM4719999 RAD54L c.2175T>C p.D725D Substitution - coding silent Large_intestine COSM3773771 NCOR1 c.549G>A p.Q183Q Substitution - coding silent Thyroid COSM3443943 KMT2A c.1914C>T p.A638A Substitution - coding silent Skin COSM211731 TET2 c.4133G>A p.C1378Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4182202 BTAF1 c.4864-9C>T p.? Unknown Biliary_tract COSM482779 NIPBL c.6120T>A p.D2040E Substitution - Missense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM438301 L3MBTL4 c.1407_1408insA p.G470fs*6 Insertion - Frameshift Breast COSM5976472 BAZ1B c.1244A>G p.Q415R Substitution - Missense Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4981199 MINA c.1116C>T p.V372V Substitution - coding silent Oesophagus COSM3013769 PRDM9 c.379G>A p.E127K Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1012911 ASXL1 c.1898_1899insA p.H633fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5977269 KDM4C c.336A>G p.R112R Substitution - coding silent Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM6005460 KMT2D c.? p.L4156fs*6 Frameshift Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3479325 TDRD5 c.2344G>A p.D782N Substitution - Missense Skin COSM3900249 MYST3 c.2114A>C p.H705P Substitution - Missense Stomach COSM4434580 DPF2 c.899G>T p.R300L Substitution - Missense Oesophagus COSM3988886 PHF12 c.562A>T p.I188F Substitution - Missense Kidney COSM1719510 KMT2D c.11554G>A p.G3852R Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4451296 ATF2 c.1148A>T p.K383I Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4121658 PRDM5 c.352G>C p.E118Q Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2968177 SMC1A c.2028G>T p.E676D Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1629540 MGA c.6396T>C p.V2132V Substitution - coding silent Liver COSM3501419 TP53BP1 c.4186C>T p.R1396C Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4754184 PRDM11 c.897A>C p.E299D Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1353900 PHF21A c.1817delC p.P606fs*>29 Deletion - Frameshift Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM276400 NSD1 c.1176C>T p.F392F Substitution - coding silent Large_intestine COSM945770 MPHOSPH8 c.1973C>T p.A658V Substitution - Missense Breast COSM480182 SETD2 c.344C>G p.S115* Substitution - Nonsense Breast COSM753636 TAF1L c.3403C>G p.Q1135E Substitution - Missense Breast COSM255241 HDAC9 c.628C>A p.Q210K Substitution - Missense Central_nervous_system COSM5743714 CHD2 c.422G>A p.G141D Substitution - Missense Small_intestine COSM4607589 YY1 c.830C>A p.A277E Substitution - Missense Adrenal_gland COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4614926 ACTR8 c.173_174insT p.L58fs*42 Insertion - Frameshift Large_intestine COSM5061313 PRDM1 c.1843C>T p.R615* Substitution - Nonsense Stomach COSM5365245 BRD4 c.9G>A p.A3A Substitution - coding silent Large_intestine COSM3936196 PHC1 c.2331G>A p.Q777Q Substitution - coding silent Oesophagus COSM5005346 SETD3 c.1281G>T p.W427C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM1409879 SMYD1 c.321G>A p.A107A Substitution - coding silent Large_intestine COSM3811498 EP400 c.3036T>A p.N1012K Substitution - Missense Breast COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM1245454 ARID2 c.1624C>T p.R542* Substitution - Nonsense Skin COSM1296275 PRDM16 c.101C>A p.A34E Substitution - Missense Urinary_tract COSM954413 CHD8 c.7652C>A p.S2551Y Substitution - Missense Endometrium COSM150645 TDRD7 c.449T>C p.V150A Substitution - Missense Stomach COSM4415150 TTF2 c.3444C>T p.V1148V Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM271416 NCOA7 c.1770G>A p.P590P Substitution - coding silent Large_intestine COSM309324 ATF7IP c.917T>A p.I306K Substitution - Missense Soft_tissue COSM380912 AKAP1 c.2086C>G p.L696V Substitution - Missense Lung COSM3979657 PHF21A c.969G>C p.Q323H Substitution - Missense Lung COSM5727286 UBR7 c.919C>T p.L307L Substitution - coding silent Skin COSM42070 TET2 c.5650A>G p.T1884A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM251399 ARID1A c.2632C>T p.Q878* Substitution - Nonsense Urinary_tract COSM4146849 EP400 c.4140C>A p.I1380I Substitution - coding silent Thyroid COSM3717855 AP001011.3_ENST00000320876 c.3086A>T p.K1029M Substitution - Missense Liver COSM4641750 MBD6 c.1370T>C p.I457T Substitution - Missense Large_intestine COSM1100879 CHD7 c.7253G>A p.R2418Q Substitution - Missense Stomach COSM4771424 PBRM1 c.2642_2643insTA p.K881fs*35 Insertion - Frameshift Kidney COSM4420403 BRD1 c.849G>C p.K283N Substitution - Missense Central_nervous_system COSM1007231 MBD5 c.2584A>G p.T862A Substitution - Missense Endometrium COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM32748 ARID1B c.2267G>C p.G756A Substitution - Missense Breast COSM36168 ASXL1 c.1851_1852insT p.K618fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM25626 KMT2A c.7062delC p.S2355fs*18 Deletion - Frameshift Urinary_tract COSM43482 TET2 c.3658_3658delA p.T1220fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51213 ARID1A c.3854_3855insA p.Y1285fs*1 Insertion - Frameshift Ovary COSM95316 TDG c.56C>T p.T19M Substitution - Missense Lung COSM94246 ERCC6 c.1248A>C p.K416N Substitution - Missense Ovary COSM96466 CREBBP c.3710G>A p.C1237Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM123305 GABRG1 c.806G>A p.R269K Substitution - Missense Upper_aerodigestive_tract COSM190064 MSH6 c.2765G>A p.R922Q Substitution - Missense Stomach COSM211615 TET2 c.3009G>A p.W1003* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM216053 KMT2C c.2961C>G p.Y987* Substitution - Nonsense Central_nervous_system COSM249600 SETD2 c.2905_2906insA p.Y969fs*1 Insertion - Frameshift Kidney COSM233509 STK31 c.1092G>A p.M364I Substitution - Missense Skin COSM240096 HELLS c.190C>T p.R64W Substitution - Missense Oesophagus COSM256355 ASH1L c.2598A>G p.P866P Substitution - coding silent Large_intestine COSM276046 MECOM c.358C>T p.R120C Substitution - Missense Endometrium COSM293686 SP140_ENST00000392045 c.2008delA p.K672fs*4 Deletion - Frameshift Large_intestine COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Large_intestine COSM304429 BPTF c.1281C>G p.D427E Substitution - Missense Large_intestine COSM367786 BRWD3 c.524G>T p.R175I Substitution - Missense Lung COSM420363 BAP1 c.141C>G p.I47M Substitution - Missense Urinary_tract COSM416498 INOC1 c.946A>T p.K316* Substitution - Nonsense Urinary_tract COSM430522 HNF1A c.79A>C p.I27L Substitution - Missense Liver COSM443049 SMEK2 c.1336delG p.D446fs*18 Deletion - Frameshift Breast COSM458841 EPC1 c.1151A>G p.Q384R Substitution - Missense Cervix COSM467599 KDM4D c.263A>G p.Q88R Substitution - Missense Kidney COSM478229 NCOA5 c.1261C>A p.P421T Substitution - Missense Kidney COSM983327 BPTF c.4388G>T p.R1463M Substitution - Missense Endometrium COSM485012 EZH2 c.1768T>A p.C590S Substitution - Missense Kidney COSM2270972 TET2 c.3997_3998insA p.M1333fs*6 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1054448 WHSC1 c.4072T>C p.W1358R Substitution - Missense Endometrium COSM1017601 SP140_ENST00000392045 c.1071T>C p.S357S Substitution - coding silent Endometrium COSM722949 SMYD1 c.1193G>C p.R398P Substitution - Missense Lung COSM730370 ZCWPW2 c.1052C>A p.A351D Substitution - Missense Lung COSM907726 ARID1A c.4336C>T p.R1446* Substitution - Nonsense Stomach COSM900299 TDRD5 c.1458C>A p.F486L Substitution - Missense Endometrium COSM908298 HDAC1 c.932G>A p.C311Y Substitution - Missense Endometrium COSM908644 ZMYM1 c.2015C>A p.A672D Substitution - Missense Endometrium COSM912824 RERE c.231G>T p.K77N Substitution - Missense Endometrium COSM1061229 BRD8 c.3464G>T p.R1155I Substitution - Missense Endometrium COSM1093684 TRRAP c.8511C>T p.C2837C Substitution - coding silent Endometrium COSM1132974 CHD4 c.340_358>16 p.K119delK Deletion - In frame Central_nervous_system COSM1245440 ARID1A c.4227_4228insCC p.Q1411fs*71 Insertion - Frameshift Oesophagus COSM1184470 BAZ1A c.3356C>A p.S1119Y Substitution - Missense Large_intestine COSM1161911 KDM5C c.4219delG p.D1407fs*5 Deletion - Frameshift Kidney COSM1187199 ARID1B c.3658G>C p.D1220H Substitution - Missense Lung COSM1172325 SRCAP c.1024C>A p.Q342K Substitution - Missense Oesophagus COSM1315528 PHF16 c.403G>C p.V135L Substitution - Missense Urinary_tract COSM1325842 BAZ2B c.2927C>A p.A976E Substitution - Missense Ovary COSM1327891 MBD4 c.906G>C p.V302V Substitution - coding silent Ovary COSM1320408 ACTA1 c.148G>T p.G50C Substitution - Missense Ovary COSM1392052 DOT1L c.3422C>T p.T1141I Substitution - Missense Large_intestine COSM1388728 SETBP1 c.3518delT p.F1174fs*13 Deletion - Frameshift Large_intestine COSM1413006 DIDO1 c.6349C>T p.R2117C Substitution - Missense Large_intestine COSM1406756 HDAC4 c.883G>A p.A295T Substitution - Missense Large_intestine COSM1448354 TIF1 c.655C>T p.R219* Substitution - Nonsense Large_intestine COSM1439338 CHD1 c.4285A>C p.K1429Q Substitution - Missense Large_intestine COSM1341430 ARID1A c.6415delC p.F2141fs*59 Deletion - Frameshift Large_intestine COSM1565740 NCOA3 c.3765G>A p.Q1255Q Substitution - coding silent Large_intestine COSM1562957 BAHD1 c.1061C>T p.P354L Substitution - Missense Large_intestine COSM1623353 TRRAP c.3620A>T p.K1207M Substitution - Missense Liver COSM1676618 KDM5A c.920A>C p.K307T Substitution - Missense Large_intestine COSM1675219 ERCC6 c.4309T>A p.F1437I Substitution - Missense Prostate COSM1679475 ZBTB4 c.766T>C p.C256R Substitution - Missense Large_intestine COSM1699411 TRIM24 c.1315C>T p.P439S Substitution - Missense Skin COSM1721037 ZMYM6 c.429-3delT p.? Unknown Skin COSM1726036 KMT2C c.11219A>C p.N3740T Substitution - Missense Liver COSM1745838 JMJD1C c.4027G>A p.D1343N Substitution - Missense Urinary_tract COSM42037 TET2 c.4210C>T p.R1404* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1733622 RAI1 c.3631G>A p.G1211S Substitution - Missense Pancreas COSM2030011 CHD8 c.4910T>G p.V1637G Substitution - Missense Large_intestine COSM2177239 TRIM33 c.1421G>A p.G474D Substitution - Missense Large_intestine COSM3089633 EHMT1 c.1138G>A p.G380S Substitution - Missense Large_intestine COSM3092559 PHF8 c.936C>T p.F312F Substitution - coding silent Skin COSM3294757 EYA2 c.78C>T p.D26D Substitution - coding silent Cervix COSM3358467 BAP1 c.1220delA p.D407fs*23 Deletion - Frameshift Kidney COSM3377470 ALKBH1 c.506G>A p.R169H Substitution - Missense Pancreas COSM3402357 CHD9 c.4940A>T p.Q1647L Substitution - Missense Central_nervous_system COSM3508928 SRCAP c.8645C>T p.S2882L Substitution - Missense Skin COSM3501099 MGA c.2455C>T p.R819C Substitution - Missense Skin COSM3422110 SMCHD1 c.3301G>T p.E1101* Substitution - Nonsense Large_intestine COSM3426558 SMEK2 c.1491A>C p.K497N Substitution - Missense Large_intestine COSM3620814 EYA4 c.1058G>A p.G353E Substitution - Missense Skin COSM3578895 SP140_ENST00000392045 c.881G>A p.G294E Substitution - Missense Skin COSM3587827 HDAC11 c.338C>T p.P113L Substitution - Missense Skin COSM3545266 ASXL1 c.4032C>T p.S1344S Substitution - coding silent Skin COSM3698626 TRRAP c.4902C>T p.N1634N Substitution - coding silent Large_intestine COSM3693500 CHD6 c.7097C>T p.A2366V Substitution - Missense Large_intestine COSM3702225 SMYD5 c.157T>C p.L53L Substitution - coding silent Liver COSM3735026 SMARCA4 c.3244_3244delT p.F1082fs*24 Deletion - Frameshift Ovary COSM3733428 KMT2C c.9535C>T p.Q3179* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3749088 PWWP2B c.1032G>A p.E344E Substitution - coding silent Large_intestine COSM3763348 MYST3 c.2982G>A p.P994P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3768470 BAZ1B c.1216G>A p.G406S Substitution - Missense Liver COSM3818089 CHD9 c.7363C>T p.H2455Y Substitution - Missense Breast COSM3855021 NIPBL c.4068C>A p.Y1356* Substitution - Nonsense Stomach COSM3862513 PRDM2 c.1211A>C p.N404T Substitution - Missense Skin COSM3824007 SETD2 c.1323T>G p.A441A Substitution - coding silent Breast COSM3877222 PHF14 c.2481G>T p.T827T Substitution - coding silent Stomach COSM3984773 LBR c.960T>G p.H320Q Substitution - Missense Kidney COSM3993226 PBRM1 c.4404T>A p.Y1468* Substitution - Nonsense Kidney COSM4080504 KDM4B c.1463C>T p.P488L Substitution - Missense Stomach COSM4068917 BPTF c.2802G>A p.S934S Substitution - coding silent Stomach COSM4077880 SIRT2 c.397G>A p.A133T Substitution - Missense Stomach COSM4072461 MBD1 c.475+2T>C p.? Unknown Stomach COSM4147104 KMT2D c.7443G>A p.L2481L Substitution - coding silent Thyroid COSM4170456 KMT2D c.1260delG p.A422fs*13 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4390073 ZMYM3 c.721G>T p.E241* Substitution - Nonsense Urinary_tract COSM4428476 ERCC6 c.1340G>A p.R447Q Substitution - Missense Oesophagus COSM4501471 EYA2 c.589C>T p.L197F Substitution - Missense Skin COSM4436778 RAI1 c.4413G>A p.P1471P Substitution - coding silent Oesophagus COSM4512740 SMARCC2 c.913C>T p.P305S Substitution - Missense Skin COSM4479255 ARID2 c.2308C>T p.P770S Substitution - Missense Skin COSM4706996 NIPBL c.7168G>A p.A2390T Substitution - Missense Large_intestine COSM4678899 DNMT3A c.1212G>A p.K404K Substitution - coding silent Large_intestine COSM4672081 CHD7 c.712G>A p.V238M Substitution - Missense Large_intestine COSM4689175 GTF3C1 c.6165A>G p.P2055P Substitution - coding silent Large_intestine COSM4674649 CREBBP c.3605G>A p.R1202H Substitution - Missense Large_intestine COSM4705950 NCOA3 c.3078T>C p.N1026N Substitution - coding silent Large_intestine COSM4775473 PHF12 c.2957A>C p.E986A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4774848 EP300 c.5359G>T p.A1787S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4754813 KMT2D c.10339C>T p.Q3447* Substitution - Nonsense Stomach COSM4779200 ARID1A c.2364C>G p.Y788* Substitution - Nonsense Liver COSM4909775 KAT2B c.360C>G p.P120P Substitution - coding silent Liver COSM4918044 CLOCK c.206A>T p.D69V Substitution - Missense Liver COSM4914362 MLL5 c.1781G>A p.R594K Substitution - Missense Liver COSM4944009 KDM3A c.273A>G p.E91E Substitution - coding silent Liver COSM4836525 MTA1 c.359C>T p.T120M Substitution - Missense Cervix COSM4856919 KAT2A c.841C>T p.Q281* Substitution - Nonsense Cervix COSM4964189 SMARCA2 c.3313C>T p.R1105C Substitution - Missense Liver COSM4963480 DAXX c.979C>T p.R327* Substitution - Nonsense Pancreas COSM5042651 MBD6 c.1997C>T p.P666L Substitution - Missense Liver COSM5442618 SUV420H1 c.1544G>A p.R515K Substitution - Missense Oesophagus COSM5443510 DPF1 c.312C>T p.P104P Substitution - coding silent Oesophagus COSM5441006 KMT2C c.8600delA p.K2867fs*39 Deletion - Frameshift Oesophagus COSM5624171 BTAF1 c.602G>C p.R201P Substitution - Missense Oesophagus COSM5771622 ATAD2B_ENST00000238789 c.2861A>T p.D954V Substitution - Missense Breast COSM5741010 HDAC5 c.376G>A p.A126T Substitution - Missense Small_intestine COSM5608303 DOT1L c.804C>T p.S268S Substitution - coding silent Skin COSM5606345 BAZ1A c.343C>T p.R115* Substitution - Nonsense Skin COSM5711899 KAT6B c.3603_3606delACAA p.T1203fs*21 Deletion - Frameshift Soft_tissue COSM5779711 HDAC3 c.329C>T p.A110V Substitution - Missense Breast COSM5878499 ARID1A c.359_372del14 p.P120fs*275 Deletion - Frameshift Liver COSM5802064 PRDM13 c.139delA p.K48fs*5 Deletion - Frameshift Breast COSM5799396 HCFC2 c.1153G>A p.G385S Substitution - Missense Breast COSM5820719 ZMYM1 c.1388A>G p.D463G Substitution - Missense Liver COSM5952894 PRDM5 c.318C>G p.F106L Substitution - Missense Oesophagus COSM5885717 VPS72 c.851C>T p.P284L Substitution - Missense Urinary_tract COSM5921128 CHD3 c.2979-6C>A p.? Unknown Skin COSM5980740 TP53BP1 c.5593C>T p.R1865C Substitution - Missense Upper_aerodigestive_tract COSM5999043 JMJD1C c.419A>G p.E140G Substitution - Missense Prostate COSM6003188 L3MBTL4 c.922C>T p.R308W Substitution - Missense Prostate COSM6003188 L3MBTL4 c.922C>T p.R308W Substitution - Missense Prostate COSM6011654 PRMT10 c.1773C>G p.F591L Substitution - Missense Skin COSM41901 TET2 c.? p.R1216* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM914345 ASXL1 c.? p.G642* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM132979 ASXL1 c.? p.Q757* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM247701 TAF1L c.778C>A p.R260S Substitution - Missense Prostate COSM2996463 PRMT7 c.222C>T p.G74G Substitution - coding silent Large_intestine COSM1228045 SUV420H1 c.1836G>T p.K612N Substitution - Missense Large_intestine COSM5019205 PBRM1 c.996-4delG p.? Unknown Soft_tissue COSM4383969 TET2 c.5587G>A p.A1863T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1663016 NCOA7 c.2400A>T p.Q800H Substitution - Missense Kidney COSM21481 HNF1A c.872_873insC p.G292fs*25 Insertion - Frameshift Liver COSM1637054 ORC1 c.1781C>G p.A594G Substitution - Missense Bone COSM5713420 TBL1XR1 c.978_982delTACAG p.S326fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1096253 PHF20L1 c.376C>T p.R126C Substitution - Missense Skin COSM6002627 CBX4 c.827C>T p.A276V Substitution - Missense Prostate COSM96522 TET2 c.3202C>T p.Q1068* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM937139 EP400 c.922G>A p.A308T Substitution - Missense Endometrium COSM3486478 SMYD3 c.426C>T p.I142I Substitution - coding silent Skin COSM265557 CHD3 c.5910_5912delGAA p.K1972delK Deletion - In frame Large_intestine COSM429983 EED c.619C>T p.L207L Substitution - coding silent Soft_tissue COSM5364018 RAI1 c.4153G>A p.V1385M Substitution - Missense Large_intestine COSM5042821 BAZ2A_ENST00000379441 c.3128G>A p.S1043N Substitution - Missense Liver COSM211643 TET2 c.3782G>A p.R1261H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1158774 KDM6A c.792C>T p.T264T Substitution - coding silent Pancreas COSM4884759 KDM2A c.2631G>T p.R877S Substitution - Missense Upper_aerodigestive_tract COSM1625748 RBBP7 c.842A>G p.N281S Substitution - Missense Liver COSM1210681 INOC1 c.3935A>G p.D1312G Substitution - Missense Large_intestine COSM3732541 RAG2 c.1281C>A p.I427I Substitution - coding silent Stomach COSM1666674 SETBP1 c.? p.S869G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4456730 GTF3C1 c.101C>T p.P34L Substitution - Missense Skin COSM3371073 MBD1 c.382C>T p.P128S Substitution - Missense Large_intestine COSM1205367 EP300 c.5956C>G p.P1986A Substitution - Missense Large_intestine COSM5567497 AP001011.3_ENST00000320876 c.4900T>C p.S1634P Substitution - Missense Prostate COSM429983 EED c.619C>T p.L207L Substitution - coding silent Soft_tissue COSM5483271 HDAC9 c.1003T>G p.L335V Substitution - Missense Large_intestine COSM230690 KMT2A c.4961C>T p.S1654F Substitution - Missense Skin COSM1723868 BRPF1 c.2760C>T p.N920N Substitution - coding silent Skin COSM4842661 PHC2 c.682C>T p.R228* Substitution - Nonsense Cervix COSM4109784 SUV39H1 c.772G>A p.V258I Substitution - Missense Stomach COSM13835 ARID1A c.2834delG p.G945fs*23 Deletion - Frameshift Lung COSM5720735 PRDM1 c.1940G>T p.R647L Substitution - Missense Skin COSM249379 CREBBP c.5418G>C p.K1806N Substitution - Missense Kidney COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM82374 SMARCA1 c.585C>A p.I195I Substitution - coding silent Ovary COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM219074 TET2 c.? p.N1266Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4169845 MEN1 c.? p.F43fs*74 Unknown Adrenal_gland COSM4405569 MBD5 c.3146T>G p.L1049R Substitution - Missense Skin COSM5555000 PRDM10 c.700G>C p.G234R Substitution - Missense Prostate COSM731065 PBRM1 c.2467G>C p.D823H Substitution - Missense Lung COSM5380673 PRDM16 c.2835G>A p.R945R Substitution - coding silent Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM4631180 TIF1 c.2508C>T p.C836C Substitution - coding silent Large_intestine COSM1751406 NCOA6 c.3158A>G p.N1053S Substitution - Missense Urinary_tract COSM4796219 WHSC1 c.1091G>A p.G364D Substitution - Missense Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM97034 ASXL1 c.2190C>A p.C730* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1125410 ATRX c.6010G>T p.D2004Y Substitution - Missense Large_intestine COSM4990250 KMT2D c.8362G>A p.D2788N Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3867841 KAT6B c.1034C>T p.P345L Substitution - Missense Skin COSM472347 NCOR1 c.2491A>G p.N831D Substitution - Missense Kidney COSM1606129 ARID2 c.78delC p.H27fs*31 Deletion - Frameshift Liver COSM5789867 BPTF c.1611G>A p.L537L Substitution - coding silent Breast COSM85916 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4440022 KDM3B c.3946delC p.P1317fs*10 Deletion - Frameshift Thyroid COSM5723824 TDRD6 c.5198G>T p.S1733I Substitution - Missense Skin COSM3774710 MECOM c.280A>C p.M94L Substitution - Missense Urinary_tract COSM1404902 IDH1 c.388A>G p.I130V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3374596 STK31 c.1133+1G>A p.? Unknown Thyroid COSM5503003 LMNB1 c.481G>A p.G161R Substitution - Missense Biliary_tract COSM2931087 DIDO1 c.5320C>T p.P1774S Substitution - Missense Skin COSM1303438 CBX8 c.164C>T p.A55V Substitution - Missense Urinary_tract COSM961976 TP53BP1 c.4026C>T p.S1342S Substitution - coding silent Endometrium COSM707752 KDM6B c.2194C>G p.L732V Substitution - Missense Lung COSM3598860 TET2 c.2284C>T p.H762Y Substitution - Missense Skin COSM4643731 KMT2D c.246A>G p.L82L Substitution - coding silent Large_intestine COSM82041 ATAT1 c.669G>A p.L223L Substitution - coding silent Ovary COSM1207676 FXR1 c.1230A>C p.E410D Substitution - Missense Large_intestine COSM4797226 TAF1L c.3447G>A p.R1149R Substitution - coding silent Liver COSM5482469 KMT2C c.1007A>G p.E336G Substitution - Missense Large_intestine COSM87001 DNMT3A c.2644C>A p.R882S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Central_nervous_system COSM735549 KDM3B c.2611C>A p.R871R Substitution - coding silent Lung COSM3383049 TAF3 c.1189C>T p.R397* Substitution - Nonsense Pancreas COSM1162010 MPHOSPH8 c.2458-2A>T p.? Unknown Kidney COSM5971427 TP53BP1 c.685G>T p.A229S Substitution - Missense Upper_aerodigestive_tract COSM4590719 KAT2A c.1583C>T p.S528F Substitution - Missense Upper_aerodigestive_tract COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4538735 ARID4A c.2596G>A p.E866K Substitution - Missense Skin COSM4822004 EHMT2 c.393G>A p.K131K Substitution - coding silent Cervix COSM4382695 GATAD2A c.775G>A p.G259S Substitution - Missense Large_intestine COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1283239 ACTL6A c.233C>T p.P78L Substitution - Missense Autonomic_ganglia COSM4486820 NCOR1 c.3054C>T p.L1018L Substitution - coding silent Skin COSM3966498 ARID1A c.4093C>T p.Q1365* Substitution - Nonsense Adrenal_gland COSM3749702 ACTR5 c.18C>T p.F6F Substitution - coding silent Large_intestine COSM428708 PRDM10 c.127G>T p.V43F Substitution - Missense Breast COSM3490115 DMAP1 c.376T>G p.F126V Substitution - Missense Skin COSM395355 ACTL6B c.838C>A p.P280T Substitution - Missense Lung COSM3386058 ARID1A c.4086T>G p.Y1362* Substitution - Nonsense Pancreas COSM5821356 SRCAP c.8042A>T p.K2681M Substitution - Missense Liver COSM5881959 TAF3 c.1780G>C p.E594Q Substitution - Missense Large_intestine COSM187734 L3MBTL2 c.1275C>T p.G425G Substitution - coding silent Large_intestine COSM5944233 DNMT3A c.853delG p.E285fs*31 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4105076 HDAC10 c.1338-1G>T p.? Unknown Stomach COSM255311 SMARCA4 c.3304T>C p.F1102L Substitution - Missense Pancreas COSM5934604 SP110 c.95C>T p.P32L Substitution - Missense Skin COSM4596479 BAHCC1 c.5240A>C p.N1747T Substitution - Missense Upper_aerodigestive_tract COSM3766327 DPF1 c.992-4G>A p.? Unknown Liver COSM1462170 KIAA1045 c.53G>C p.S18T Substitution - Missense Large_intestine COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3882233 BAZ1B c.4087C>T p.P1363S Substitution - Missense Stomach COSM4669276 CARM1 c.454delT p.Y153fs*10 Deletion - Frameshift Large_intestine COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Central_nervous_system COSM1965166 KAT6B c.4688C>T p.A1563V Substitution - Missense Large_intestine COSM1021276 MSH6 c.2689A>C p.N897H Substitution - Missense Endometrium COSM3718642 SETD7 c.1038G>T p.G346G Substitution - coding silent Upper_aerodigestive_tract COSM4665065 BAHD1 c.1720C>T p.R574C Substitution - Missense Large_intestine COSM3829518 ARID1B c.3106G>A p.G1036R Substitution - Missense Breast COSM279205 BRDT c.1751-8T>A p.? Unknown Large_intestine COSM1610415 CBX1 c.88C>A p.R30R Substitution - coding silent Liver COSM3608885 BRD8 c.1787C>T p.P596L Substitution - Missense Skin COSM252979 CLOCK c.368delT p.L123fs*1 Deletion - Frameshift Large_intestine COSM5752545 NCOR1 c.4084C>T p.Q1362* Substitution - Nonsense Breast COSM53298 SMARCB1 c.501-1G>C p.? Unknown Soft_tissue COSM5758593 BRD8 c.2222C>A p.A741E Substitution - Missense Bone COSM3717093 CDYL2 c.1000G>T p.A334S Substitution - Missense Liver COSM5721303 TAF1L c.3585G>C p.G1195G Substitution - coding silent Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3596049 PHF7 c.908C>T p.A303V Substitution - Missense Skin COSM211974 TDRD1 c.3305A>C p.K1102T Substitution - Missense Breast COSM5754648 SMEK1 c.1125A>G p.T375T Substitution - coding silent Large_intestine COSM4996291 ZBTB38 c.3097A>C p.T1033P Substitution - Missense Upper_aerodigestive_tract COSM5723506 TDRD5 c.1217G>A p.W406* Substitution - Nonsense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3368576 RSF1 c.1430A>G p.D477G Substitution - Missense Thyroid COSM2810374 ASXL3 c.2087G>A p.R696Q Substitution - Missense Large_intestine COSM1028115 PCNA c.327G>T p.E109D Substitution - Missense Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM941097 CBX5 c.177C>T p.C59C Substitution - coding silent Endometrium COSM3640353 BAZ1B c.293C>T p.S98F Substitution - Missense Skin COSM5981146 NCOR1 c.5240G>A p.R1747Q Substitution - Missense Upper_aerodigestive_tract COSM133025 ARID1A c.2296_2297insC p.Q766fs*51 Insertion - Frameshift Pancreas COSM41293 IDH1 c.? p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4494031 PRDM15 c.4254C>T p.A1418A Substitution - coding silent Skin COSM1476763 BAZ2A c.967C>A p.Q323K Substitution - Missense Breast COSM3852232 HDAC3 c.202G>A p.D68N Substitution - Missense Stomach COSM5514611 BAZ2B c.6012A>G p.K2004K Substitution - coding silent Biliary_tract COSM3445302 PRDM10 c.500C>T p.P167L Substitution - Missense Skin COSM3959241 CXXC1 c.1349G>A p.R450Q Substitution - Missense Lung COSM1341426 ARID1A c.5542delG p.D1850fs*33 Deletion - Frameshift Endometrium COSM241573 SETD1B c.1778G>C p.S593T Substitution - Missense Prostate COSM5352297 EP300 c.? p.R568W Substitution - Missense Endometrium COSM34192 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM4459660 TDRKH c.1134C>T p.T378T Substitution - coding silent Skin COSM211698 TET2 c.3009_3009delG p.W1003fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4941233 SMYD3 c.864C>T p.A288A Substitution - coding silent Liver COSM923587 KMT2A c.6562C>T p.R2188* Substitution - Nonsense Skin COSM78546 SMARCB1 c.1103A>G p.Q368R Substitution - Missense Ovary COSM3934295 TDRD5 c.665G>C p.R222T Substitution - Missense Oesophagus COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1580526 ARID1A c.4879C>G p.P1627A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3670074 PHF2 c.2334G>T p.E778D Substitution - Missense Liver COSM1117741 HCFC1 c.2926C>T p.R976* Substitution - Nonsense Endometrium COSM5752710 CTCF c.852C>G p.H284Q Substitution - Missense Breast COSM745611 HDAC9 c.1551G>C p.A517A Substitution - coding silent Breast COSM4185646 SMARCC1 c.1705C>A p.L569M Substitution - Missense Kidney COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4776062 NSD1 c.6656G>A p.R2219H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4161275 CDYL c.749A>T p.E250V Substitution - Missense Thyroid COSM1680469 MUM1 c.181G>T p.E61* Substitution - Nonsense Large_intestine COSM4448295 BAHCC1 c.5250G>A p.R1750R Substitution - coding silent Skin COSM88025 SMARCA4 c.2729C>T p.T910M Substitution - Missense Kidney COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1131647 KMT2C c.2755G>C p.V919L Substitution - Missense Skin COSM1222836 PYGO1 c.1180A>G p.T394A Substitution - Missense Large_intestine COSM1030943 PRDM15 c.1947C>T p.I649I Substitution - coding silent Endometrium COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3430022 EYA4 c.39G>T p.K13N Substitution - Missense Large_intestine COSM5599937 KMT2D c.9532C>T p.P3178S Substitution - Missense Skin COSM302644 KMT2D c.15550C>T p.R5184* Substitution - Nonsense Large_intestine COSM1583140 DNMT3A c.1539G>A p.M513I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1610929 CHD3 c.1707+10C>G p.? Unknown Liver COSM5494317 MECP2 c.1357C>T p.R453* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4428446 SMYD1 c.406G>C p.V136L Substitution - Missense Oesophagus COSM993837 DOT1L c.2803G>T p.A935S Substitution - Missense Endometrium COSM5723567 CAMKMT c.129C>T p.L43L Substitution - coding silent Skin COSM3550725 BRWD1 c.329C>T p.S110F Substitution - Missense Skin COSM2801159 PHF12 c.2757G>A p.P919P Substitution - coding silent Upper_aerodigestive_tract COSM3440607 KAT6B c.1557C>T p.P519P Substitution - coding silent Skin COSM1115434 PHF6 c.415G>A p.E139K Substitution - Missense Endometrium COSM214540 KDM6A c.3338_3339insGTCGT p.A1115fs*7 Insertion - Frameshift Breast COSM5576008 SMARCA4 c.2717G>A p.R906H Substitution - Missense Stomach COSM4904598 ZBTB33 c.1876C>T p.P626S Substitution - Missense Skin COSM5666745 TIF1 c.517A>C p.N173H Substitution - Missense Soft_tissue COSM1612642 KDM4B c.1656G>T p.E552D Substitution - Missense Liver COSM5435932 CREBBP c.6334C>G p.Q2112E Substitution - Missense Oesophagus COSM421227 PHIP c.1027C>T p.H343Y Substitution - Missense Urinary_tract COSM162771 MYST3 c.5920G>A p.G1974R Substitution - Missense Breast COSM5459189 NSD1 c.865T>G p.L289V Substitution - Missense Large_intestine COSM4515621 CBX2 c.1213_1214CC>TT p.P405F Substitution - Missense Skin COSM3655416 BRD3 c.144G>A p.K48K Substitution - coding silent Skin COSM1079887 TDRD6 c.1882G>T p.E628* Substitution - Nonsense Endometrium COSM908640 ZMYM1 c.1441C>T p.Q481* Substitution - Nonsense Endometrium COSM5880418 CXXC1 c.1777delT p.W593fs*34 Deletion - Frameshift Soft_tissue COSM4054477 INOC1 c.650A>G p.K217R Substitution - Missense Stomach COSM2175451 HNF1A c.692C>T p.T231M Substitution - Missense Liver COSM4970312 CHD4 c.1947C>T p.Y649Y Substitution - coding silent Central_nervous_system COSM5944266 TET2 c.2237delA p.K747fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5414277 FMR1 c.1188+5G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3521179 BPTF c.2501T>C p.V834A Substitution - Missense Skin COSM4367718 CHD7 c.3293C>T p.P1098L Substitution - Missense Skin COSM1603777 TAF3 c.791A>G p.E264G Substitution - Missense Liver COSM4879988 PRDM11 c.388G>A p.V130M Substitution - Missense Prostate COSM1083678 MLL5 c.2704G>A p.D902N Substitution - Missense Large_intestine COSM4591023 KMT2C c.871C>T p.L291F Substitution - Missense Upper_aerodigestive_tract COSM1644080 ATRX c.44T>G p.V15G Substitution - Missense Stomach COSM4610764 SETD1A c.4861A>C p.S1621R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1357562 TRIM66 c.3370T>G p.Y1124D Substitution - Missense Large_intestine COSM1662109 HDAC9 c.1825G>C p.V609L Substitution - Missense Kidney COSM721775 CAMKMT c.366A>T p.T122T Substitution - coding silent Lung COSM146934 ERCC6 c.2751C>T p.G917G Substitution - coding silent Soft_tissue COSM3454808 KDM4D c.1138C>T p.H380Y Substitution - Missense Skin COSM4603629 ATRX c.4957-2A>G p.? Unknown Central_nervous_system COSM5665481 HCFC1 c.3699C>A p.T1233T Substitution - coding silent Soft_tissue COSM4611319 GTF3C4 c.1684_1685insA p.I565fs*2 Insertion - Frameshift Large_intestine COSM5024923 ARID2 c.1246A>T p.I416F Substitution - Missense Breast COSM1246219 BRD8 c.2250-2A>T p.? Unknown Oesophagus COSM4434834 ACTL6A c.1188C>T p.G396G Substitution - coding silent Oesophagus COSM5944887 DNMT3A c.2589A>C p.E863D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5725541 TP53BP1 c.4650T>G p.D1550E Substitution - Missense Skin COSM4590050 PRDM10 c.1332A>C p.E444D Substitution - Missense Skin COSM699053 UBR7 c.340C>T p.L114F Substitution - Missense Lung COSM13394 MSH6 c.3261_3262insC p.F1088fs*5 Insertion - Frameshift Large_intestine COSM4767442 ATRX c.4504G>A p.E1502K Substitution - Missense Biliary_tract COSM5998104 ASH2L c.916G>T p.G306W Substitution - Missense Prostate COSM3153108 EP300 c.1927G>T p.E643* Substitution - Nonsense Large_intestine COSM5990158 HNF1A c.842T>A p.L281Q Substitution - Missense Liver COSM1169608 TET2 c.? p.Y61fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM1756978 SMARCA4 c.1659C>G p.L553L Substitution - coding silent Urinary_tract COSM4156350 TCF20 c.4456A>G p.T1486A Substitution - Missense Thyroid COSM337977 JARID2 c.2263G>T p.E755* Substitution - Nonsense Lung COSM203096 ATAD2 c.354delA p.E119fs*8 Deletion - Frameshift Large_intestine COSM4952156 TDRD7 c.1702T>A p.C568S Substitution - Missense Liver COSM1180774 KDM5A c.3597delA p.G1200fs*9 Deletion - Frameshift Large_intestine COSM120930 KDM4A c.8C>T p.S3F Substitution - Missense Upper_aerodigestive_tract COSM422787 PBRM1 c.2568-1G>A p.? Unknown Kidney COSM5584788 CHD7 c.899C>T p.P300L Substitution - Missense Skin COSM71236 JMJD1C c.5563T>C p.Y1855H Substitution - Missense Ovary COSM88749 CREBBP c.4336C>T p.R1446C Substitution - Missense Central_nervous_system COSM397340 KMT2C c.1240C>T p.H414Y Substitution - Missense Breast COSM3715610 TRIM24 c.2717G>A p.R906K Substitution - Missense Upper_aerodigestive_tract COSM3528099 DNMT1 c.3670C>T p.P1224S Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3712468 CBX4 c.1671C>A p.Y557* Substitution - Nonsense Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Salivary_gland COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5552349 EYA3 c.1713T>G p.D571E Substitution - Missense Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5716097 GTF3C4 c.1360T>A p.F454I Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5568383 CDYL2 c.1394G>A p.S465N Substitution - Missense Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM88748 CREBBP c.4337G>A p.R1446H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4383760 TET2 c.506_507delAT p.H169fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1289304 RNF134 c.96C>A p.P32P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM966441 IDH2 c.804G>T p.E268D Substitution - Missense Endometrium COSM3709944 SFMBT2 c.236A>C p.K79T Substitution - Missense Upper_aerodigestive_tract COSM52886 PBRM1 c.442_443insA p.R148fs*3 Insertion - Frameshift Kidney COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM272608 DNMT1 c.768_769delGA p.K257fs*16 Deletion - Frameshift Large_intestine COSM894181 TRIM33 c.2081G>A p.S694N Substitution - Missense Endometrium COSM278971 ARID2 c.940C>T p.R314C Substitution - Missense Skin COSM4817865 KDM4B c.1255G>A p.E419K Substitution - Missense Skin COSM5878857 DNMT3A c.1031T>C p.L344P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1377459 SRCAP c.1800G>A p.T600T Substitution - coding silent Stomach COSM5573327 EHMT1 c.731-1G>T p.? Unknown Prostate COSM216574 HDAC4 c.2110C>T p.R704C Substitution - Missense Pancreas COSM4483169 PRDM14 c.267C>T p.L89L Substitution - coding silent Skin COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM4603627 ATRX c.5449-2A>G p.? Unknown Central_nervous_system COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM5878748 DNMT3A c.2479-2A>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM353981 SETBP1 c.1430C>G p.S477* Substitution - Nonsense Lung COSM1169373 ASXL1 c.? p.Q760* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1630470 CHD3 c.561C>T p.T187T Substitution - coding silent Liver COSM3710708 SETD1B c.859C>T p.P287S Substitution - Missense Upper_aerodigestive_tract COSM1030721 BRWD1 c.938G>A p.R313H Substitution - Missense Endometrium COSM4042403 KMT2D c.2360A>C p.K787T Substitution - Missense Stomach COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM160571 DOT1L c.585G>A p.A195A Substitution - coding silent Breast COSM5477565 PRDM2 c.640G>T p.E214* Substitution - Nonsense Large_intestine COSM41741 TET2 c.5618T>C p.I1873T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3847989 BRD3 c.1653G>A p.K551K Substitution - coding silent Breast COSM724828 DIDO1 c.2630C>T p.S877F Substitution - Missense Skin COSM940074 KMT2D c.3341G>C p.G1114A Substitution - Missense Endometrium COSM977540 SUZ12 c.302G>A p.R101Q Substitution - Missense Endometrium COSM1007215 MBD5 c.952T>C p.S318P Substitution - Missense Endometrium COSM173396 SUV420H1 c.745G>A p.D249N Substitution - Missense Stomach COSM3906522 SMARCA2 c.1673A>G p.K558R Substitution - Missense Stomach COSM5497914 WHSC1L1 c.1070G>A p.R357Q Substitution - Missense Biliary_tract COSM4008298 KDM4A c.1493G>A p.R498H Substitution - Missense Stomach COSM1642689 NSD1 c.816C>T p.N272N Substitution - coding silent Stomach COSM5748877 BAZ2B c.1291C>T p.R431W Substitution - Missense Pancreas COSM988365 SETBP1 c.428G>A p.R143H Substitution - Missense Large_intestine COSM5484905 KMT2C c.2444C>T p.T815I Substitution - Missense Large_intestine COSM5047783 EP300 c.2377C>G p.Q793E Substitution - Missense Oesophagus COSM1725049 HNF1A c.249_250insC p.I85fs*11 Insertion - Frameshift Liver COSM961513 MGA c.4042C>T p.R1348W Substitution - Missense Endometrium COSM3411010 PHF1 c.1038A>G p.G346G Substitution - coding silent Central_nervous_system COSM1079904 TDRD6 c.3906G>A p.M1302I Substitution - Missense Endometrium COSM908314 PRDM16 c.524C>T p.A175V Substitution - Missense Endometrium COSM1107721 SMARCA2 c.2337T>A p.I779I Substitution - coding silent Endometrium COSM34039 IDH2 c.514A>T p.R172W Substitution - Missense Biliary_tract COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41645 TET2 c.3157C>T p.Q1053* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41704 ASXL1 c.2502_2502delT p.T836fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM71169 INOC1 c.452A>G p.N151S Substitution - Missense Ovary COSM96923 IDH1 c.211G>A p.V71I Substitution - Missense Soft_tissue COSM87124 TET2 c.3632G>A p.C1211Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87179 TET2 c.5338_5338delC p.L1780fs*40 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM86993 IDH1 c.395_396GT>AC p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM112121 PRDM2 c.2104_2105insCTC p.P703_A704insP Insertion - In frame Upper_aerodigestive_tract COSM130430 DNMT3A c.2095G>A p.G699S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM140194 DNMT1 c.1609C>T p.P537S Substitution - Missense Skin COSM159327 BAP1 c.838C>T p.Q280* Substitution - Nonsense Breast COSM159336 BAZ1B c.3107G>A p.R1036Q Substitution - Missense Breast COSM228806 TDRKH c.497G>A p.G166E Substitution - Missense Skin COSM248491 ZMYND8 c.3164C>T p.T1055I Substitution - Missense Prostate COSM41850 TET2 c.1630C>T p.R544* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM356454 CTCF c.239G>T p.G80V Substitution - Missense Lung COSM380169 EYA2 c.1114G>C p.G372R Substitution - Missense Lung COSM435528 CTCF c.363T>A p.P121P Substitution - coding silent Breast COSM435533 CTCF c.847C>T p.R283C Substitution - Missense Breast COSM445643 HDAC11 c.672G>T p.E224D Substitution - Missense Breast COSM478011 DNMT3B c.2132C>A p.S711* Substitution - Nonsense Kidney COSM1048008 ATXN7 c.984T>A p.N328K Substitution - Missense Endometrium COSM1047224 SFMBT1 c.1034T>C p.I345T Substitution - Missense Endometrium COSM1021104 CAMKMT c.654C>A p.V218V Substitution - coding silent Endometrium COSM1030659 BRWD1 c.6542C>T p.T2181M Substitution - Missense Endometrium COSM751061 CHD7 c.3379G>A p.E1127K Substitution - Missense Lung COSM745603 HDAC9 c.1766C>T p.S589F Substitution - Missense Lung COSM1692242 HDAC4 c.2518G>A p.D840N Substitution - Missense Skin COSM908998 MEAF6 c.360G>A p.T120T Substitution - coding silent Endometrium COSM992136 BRD4 c.1918C>T p.R640W Substitution - Missense Endometrium COSM961516 MGA c.4138C>T p.R1380* Substitution - Nonsense Stomach COSM961520 MGA c.4968A>C p.E1656D Substitution - Missense Endometrium COSM1077968 RING1 c.436C>T p.R146C Substitution - Missense Endometrium COSM1100873 CHD7 c.7193G>A p.R2398H Substitution - Missense Endometrium COSM1101449 EYA1 c.1311C>T p.R437R Substitution - coding silent Endometrium COSM1235472 TET2 c.5167C>T p.P1723S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1162655 PRDM9 c.888C>G p.T296T Substitution - coding silent Pancreas COSM1204290 DNMT1 c.2873G>A p.R958H Substitution - Missense Liver COSM1184396 BAHCC1 c.5731G>A p.V1911I Substitution - Missense Large_intestine COSM1262074 PHIP c.1133A>G p.N378S Substitution - Missense Oesophagus COSM1189285 SETD6 c.551G>A p.R184H Substitution - Missense Lung COSM1291254 EP300 c.2840T>C p.I947T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1329946 KMT2C c.10462A>T p.I3488L Substitution - Missense Ovary COSM1387273 KDM6B c.4858G>T p.E1620* Substitution - Nonsense Large_intestine COSM1429109 WHSC1 c.3905C>T p.S1302L Substitution - Missense Large_intestine COSM1446046 PHIP c.4409A>T p.K1470I Substitution - Missense Large_intestine COSM1457734 CHD7 c.6287A>T p.H2096L Substitution - Missense Large_intestine COSM1355794 MEN1 c.1546delC p.R516fs*43 Deletion - Frameshift Large_intestine COSM1341430 ARID1A c.6415delC p.F2141fs*59 Deletion - Frameshift Endometrium COSM1470016 KDM5D c.1380G>A p.A460A Substitution - coding silent Large_intestine COSM1486703 PRDM9 c.2126C>G p.T709S Substitution - Missense Liver COSM1621519 PHF1 c.1102C>T p.R368C Substitution - Missense Liver COSM1626323 TRIM33 c.2127A>T p.L709L Substitution - coding silent Liver COSM1628718 SMARCC2 c.571G>T p.V191L Substitution - Missense Liver COSM1687528 SCMH1 c.383C>T p.A128V Substitution - Missense Skin COSM1681736 EYA2 c.893C>T p.T298I Substitution - Missense Large_intestine COSM1664501 TCF20 c.3134G>A p.R1045Q Substitution - Missense Kidney COSM1659713 LBR c.272C>T p.P91L Substitution - Missense Kidney COSM1731568 KMT2A c.6596delC p.L2200fs*10 Deletion - Frameshift Liver COSM1737066 ZBTB33 c.8G>A p.S3N Substitution - Missense Central_nervous_system COSM1734188 SRCAP c.5698C>T p.R1900C Substitution - Missense Pancreas COSM2078744 PHC2 c.1765C>T p.R589C Substitution - Missense Large_intestine COSM2150737 SETD2 c.6115G>A p.E2039K Substitution - Missense Large_intestine COSM2221770 TRIM66 c.3438G>C p.E1146D Substitution - Missense Upper_aerodigestive_tract COSM2263343 ING1 c.679G>A p.D227N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3362309 BPTF c.7363C>T p.Q2455* Substitution - Nonsense Kidney COSM3378381 CBX8 c.843G>A p.P281P Substitution - coding silent Pancreas COSM3397045 BMI1 c.156T>G p.Y52* Substitution - Nonsense Central_nervous_system COSM3487574 ARID1A c.1140A>G p.P380P Substitution - coding silent Skin COSM3443969 KMT2A c.5299C>T p.P1767S Substitution - Missense Skin COSM3636525 KMT2C c.2872-1G>A p.? Unknown Skin COSM3567454 MBD5 c.2896C>T p.L966L Substitution - coding silent Skin COSM3567472 EPC2 c.1248T>G p.A416A Substitution - coding silent Skin COSM3563679 BRWD3 c.3433G>A p.E1145K Substitution - Missense Skin COSM3526973 L3MBTL4 c.1255G>A p.D419N Substitution - Missense Skin COSM3659908 SMEK2 c.679G>A p.E227K Substitution - Missense Skin COSM3670998 KDM2B c.1623C>T p.P541P Substitution - coding silent Prostate COSM3705811 ZMYM4 c.1436A>G p.N479S Substitution - Missense Liver COSM3707753 ACTR5 c.935G>A p.R312Q Substitution - Missense Liver COSM3730018 CHD3 c.1611_1612insC p.R540fs*47 Insertion - Frameshift Stomach COSM3726696 AKAP1 c.2317G>A p.A773T Substitution - Missense Lung COSM3746236 KMT2A c.11171A>C p.H3724P Substitution - Missense Liver COSM3761611 JARID2 c.1206C>T p.P402P Substitution - coding silent Large_intestine COSM3931694 SMARCC2 c.3435T>C p.P1145P Substitution - coding silent Urinary_tract COSM3920675 NCOA7 c.2247C>T p.I749I Substitution - coding silent Skin COSM3900246 MYST3 c.2546A>G p.Q849R Substitution - Missense Stomach COSM3879606 KMT2C c.986A>G p.E329G Substitution - Missense Stomach COSM3965797 VPS72 c.312G>A p.P104P Substitution - coding silent Large_intestine COSM4097970 PHF20 c.568C>T p.R190* Substitution - Nonsense Stomach COSM4122505 SMARCA5 c.2694G>A p.E898E Substitution - coding silent Stomach COSM4072229 SETBP1 c.740G>C p.S247T Substitution - Missense Stomach COSM4134759 DIDO1 c.1140G>A p.K380K Substitution - coding silent Thyroid COSM4136371 TAF1 c.3860C>T p.A1287V Substitution - Missense Ovary COSM4170048 TET2 c.1843C>T p.L615F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4171255 BAP1 c.1116G>T p.Q372H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4189194 SETD2 c.2606_2607insA p.S870fs*6 Insertion - Frameshift Kidney COSM4384048 NSD1 c.946T>G p.S316A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4488654 INOC1 c.3360C>T p.V1120V Substitution - coding silent Skin COSM4531489 PRDM1 c.1685G>A p.S562N Substitution - Missense Skin COSM4436268 KMT2D c.13316C>A p.S4439* Substitution - Nonsense Oesophagus COSM4429669 HDAC3 c.460A>G p.I154V Substitution - Missense Oesophagus COSM4495945 SETBP1 c.4642C>T p.P1548S Substitution - Missense Skin COSM4717875 PRMT2 c.907C>T p.P303S Substitution - Missense Large_intestine COSM4725176 SETD6 c.409_411delGAG p.E139delE Deletion - In frame Large_intestine COSM4765200 KDM6A c.2076_2077insG p.A694fs*36 Insertion - Frameshift Stomach COSM4694065 KAT6B c.3355G>A p.V1119I Substitution - Missense Large_intestine COSM4625110 DHX30 c.2618G>A p.R873H Substitution - Missense Large_intestine COSM4639383 CHD8 c.7620C>T p.D2540D Substitution - coding silent Large_intestine COSM4623570 HDAC5 c.1433C>T p.A478V Substitution - Missense Large_intestine COSM4613671 JARID2 c.1365_1366insC p.K458fs*66 Insertion - Frameshift Large_intestine COSM4619497 CHD6 c.6649A>G p.M2217V Substitution - Missense Large_intestine COSM4648554 HDAC4 c.2937C>T p.T979T Substitution - coding silent Large_intestine COSM4755912 BAZ2A_ENST00000379441 c.3566G>A p.R1189Q Substitution - Missense Stomach COSM4756893 PRMT7 c.1882G>T p.G628C Substitution - Missense Stomach COSM4799615 ADNP c.3162T>A p.D1054E Substitution - Missense Liver COSM4802025 TDRD1 c.1603C>A p.P535T Substitution - Missense Liver COSM4808562 SFMBT2 c.50C>T p.P17L Substitution - Missense Pancreas COSM4881269 RAI1 c.173G>T p.S58I Substitution - Missense Upper_aerodigestive_tract COSM4890626 EPC1 c.639G>T p.R213S Substitution - Missense Upper_aerodigestive_tract COSM4957733 AP001011.3_ENST00000320876 c.4895A>G p.Q1632R Substitution - Missense Liver COSM4969587 GATAD2B c.1718G>A p.R573H Substitution - Missense Central_nervous_system COSM5034025 BRWD1 c.349G>A p.D117N Substitution - Missense Skin COSM5052409 TRIM33 c.1819G>A p.G607S Substitution - Missense Stomach COSM5104363 SUV39H1 c.1105+3delG p.? Unknown Large_intestine COSM5132862 MPHOSPH8 c.1452G>T p.K484N Substitution - Missense Large_intestine COSM5136501 MTA1 c.1998-7C>T p.? Unknown Large_intestine COSM5038634 MGA c.6965_6968delACTT p.L2323fs*60 Deletion - Frameshift Liver COSM5366840 ATRX c.2519G>T p.R840I Substitution - Missense Large_intestine COSM5508136 ARID2 c.3269delC p.A1090fs*66 Deletion - Frameshift Biliary_tract COSM5509687 KDM4A c.2256delC p.P754fs*18 Deletion - Frameshift Biliary_tract COSM5446191 PRDM13 c.1133_1134insGCC p.P378_G379insP Insertion - In frame Thyroid COSM5631123 ERCC6 c.769G>T p.E257* Substitution - Nonsense Oesophagus COSM5624108 ASH1L c.6232G>C p.V2078L Substitution - Missense Oesophagus COSM5650481 MGA c.7445G>A p.R2482Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5722740 ASXL3 c.2525C>T p.S842L Substitution - Missense Skin COSM5748960 ZMYM3 c.2206C>T p.R736C Substitution - Missense Pancreas COSM5603170 CHD1 c.4750G>A p.D1584N Substitution - Missense Skin COSM5606450 CREBBP c.3862C>T p.R1288W Substitution - Missense Skin COSM5556671 PRDM9 c.1792C>T p.H598Y Substitution - Missense Prostate COSM5778277 KDM5C c.1570A>C p.N524H Substitution - Missense Breast COSM5944212 DNMT3A c.2229delC p.K744fs*35 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5944295 TET2 c.5180_5183delATGA p.H1727fs*17 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5887731 SP100 c.1346-6C>T p.? Unknown Upper_aerodigestive_tract COSM5999985 ALKBH3 c.748G>T p.A250S Substitution - Missense Prostate COSM6003384 INO80C c.169G>A p.E57K Substitution - Missense Prostate COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM303909 IKZF1 c.?_?del? p.?fs Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52956 DNMT3A c.? p.Q515* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5981954 ARID1A c.? p.Q812* Substitution - Nonsense Stomach COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM2153417 EHMT2 c.3546T>A p.I1182I Substitution - coding silent Central_nervous_system COSM2720165 CHD7 c.8478C>T p.N2826N Substitution - coding silent Large_intestine COSM5011218 FXR1 c.695T>C p.L232P Substitution - Missense Kidney COSM4728442 AP001011.3_ENST00000320876 c.4696G>A p.V1566M Substitution - Missense Large_intestine COSM923593 KMT2A c.7864C>T p.R2622C Substitution - Missense Endometrium COSM36248 IDH1 c.? p.R132? Substitution - Missense Bone COSM4503358 KMT2D c.5575C>T p.P1859S Substitution - Missense Skin COSM2808576 SMCHD1 c.1126C>T p.R376C Substitution - Missense Stomach COSM5438230 SETDB2 c.350A>G p.E117G Substitution - Missense Oesophagus COSM4795530 RAG2 c.401C>T p.P134L Substitution - Missense Liver COSM5944854 PHF6 c.75_76insAAGG p.C28fs*9 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM937148 EP400 c.2429G>A p.R810H Substitution - Missense Endometrium COSM3525866 SETBP1 c.2592G>A p.T864T Substitution - coding silent Skin COSM5943210 POGZ c.2273_2274delTC p.F758fs*1 Deletion - Frameshift Skin COSM5017373 KDM6B c.767_768insAAT p.P256_P257insI Insertion - In frame Soft_tissue COSM51469 ARID1A c.1107_1108insG p.Q372fs*28 Insertion - Frameshift Breast COSM1606042 PRMT8 c.855G>A p.T285T Substitution - coding silent Liver COSM4968836 EP300 c.6102C>T p.G2034G Substitution - coding silent Central_nervous_system COSM4581854 ZMYND8 c.2191A>G p.S731G Substitution - Missense Bone COSM430521 HNF1A c.51C>G p.L17L Substitution - coding silent Liver COSM1583048 TET2 c.? p.Q966fs*42 Frameshift Haematopoietic_and_lymphoid_tissue COSM5351998 SETDB1 c.1685C>T p.P562L Substitution - Missense Kidney COSM1055652 GABRG1 c.156C>A p.T52T Substitution - coding silent Endometrium COSM737590 NSD1 c.6022G>A p.D2008N Substitution - Missense Lung COSM3458255 EP400 c.6145C>T p.L2049F Substitution - Missense Skin COSM4574171 PRDM10 c.423C>T p.D141D Substitution - coding silent Bone COSM284934 SFMBT2 c.1330+5G>A p.? Unknown Large_intestine COSM294804 SETD5_ENST00000402198 c.625C>T p.R209W Substitution - Missense Large_intestine COSM144626 PHF6 c.955C>T p.R319* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM22655 MEN1 c.? p.L175R Substitution - Missense Parathyroid COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5016011 PBRM1 c.1717_1718insT p.H573fs*2 Insertion - Frameshift Kidney COSM1099935 MYST3 c.2843G>A p.R948Q Substitution - Missense Endometrium COSM2178827 TTF2 c.2110C>T p.P704S Substitution - Missense Skin COSM693720 KMT2D c.14726G>T p.R4909L Substitution - Missense Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM4911931 MBD5 c.498T>C p.N166N Substitution - coding silent Liver COSM5512479 MYST3 c.5098C>T p.P1700S Substitution - Missense Biliary_tract COSM4793854 JMJD1C c.4228G>A p.G1410R Substitution - Missense Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1635198 KMT2C c.2185A>G p.N729D Substitution - Missense Thyroid COSM1348654 SIRT1 c.1236_1237insT p.G415fs*2 Insertion - Frameshift Large_intestine COSM4529814 STK31 c.1644G>A p.M548I Substitution - Missense Skin COSM5949364 SRCAP c.3501G>A p.Q1167Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM115927 BRPF1 c.1423G>C p.G475R Substitution - Missense Ovary COSM279214 BTAF1 c.1034G>T p.R345I Substitution - Missense Large_intestine COSM5815305 PRMT1 c.117C>T p.H39H Substitution - coding silent Liver COSM4385085 ASXL1 c.2085_2092delACTACTGC p.Q695fs*20 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3396639 KDM1B c.263G>T p.G88V Substitution - Missense Prostate COSM164201 SCML2 c.93T>C p.D31D Substitution - coding silent Breast COSM5040605 TAF1L c.2290A>T p.N764Y Substitution - Missense Liver COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM3962506 SP140_ENST00000392045 c.180A>G p.P60P Substitution - coding silent Lung COSM5574190 DNMT3B c.1150G>A p.A384T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3524748 SMCHD1 c.850C>T p.R284C Substitution - Missense Skin COSM1679859 HDAC5 c.3263C>T p.A1088V Substitution - Missense Large_intestine COSM3069632 SMARCC1 c.2211T>C p.H737H Substitution - coding silent Bone COSM230299 BAHD1 c.2219C>T p.P740L Substitution - Missense Skin COSM1625902 KDM6A c.902A>G p.Q301R Substitution - Missense Liver COSM907723 ARID1A c.4003C>T p.R1335* Substitution - Nonsense Endometrium COSM4104565 TCF20 c.19C>T p.Q7* Substitution - Nonsense Stomach COSM4672063 CHD6 c.7900A>G p.M2634V Substitution - Missense Large_intestine COSM6006719 DNMT3A c.115C>T p.Q39* Substitution - Nonsense Prostate COSM4002744 PBRM1 c.4335A>G p.P1445P Substitution - coding silent Soft_tissue COSM1411836 CHD6 c.4143C>T p.S1381S Substitution - coding silent Large_intestine COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Large_intestine COSM4064328 RAI1 c.1284G>A p.S428S Substitution - coding silent Stomach COSM939974 KMT2D c.14871C>A p.C4957* Substitution - Nonsense Endometrium COSM5623375 TBL1XR1 c.418_419insT p.T140fs*5 Insertion - Frameshift Oesophagus COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM435534 CTCF c.850C>T p.H284Y Substitution - Missense Breast COSM4987173 KIAA2026_ENST00000399933 c.4777A>G p.I1593V Substitution - Missense Soft_tissue COSM972482 CTCF c.941_942delAC p.T317fs*91 Deletion - Frameshift Endometrium COSM3362054 PHF12 c.2990T>C p.V997A Substitution - Missense Kidney COSM417522 KAT2A c.2495G>C p.G832A Substitution - Missense Urinary_tract COSM5894726 MSL3 c.998C>G p.A333G Substitution - Missense Skin COSM5499790 BAZ2B c.6244G>T p.A2082S Substitution - Missense Biliary_tract COSM5358908 CHD7 c.5221C>G p.R1741G Substitution - Missense Large_intestine COSM5992557 SMYD3 c.671G>T p.W224L Substitution - Missense Prostate COSM5589843 BRPF1 c.931C>T p.P311S Substitution - Missense Skin COSM4162024 KMT2C c.946A>T p.T316S Substitution - Missense Thyroid COSM30419 SETD2 c.3421G>T p.G1141* Substitution - Nonsense Kidney COSM925909 PRMT3 c.1556T>C p.L519P Substitution - Missense Endometrium COSM4892985 BRPF3 c.270C>T p.S90S Substitution - coding silent Skin COSM1028994 DIDO1 c.1502G>C p.S501T Substitution - Missense Endometrium COSM5800111 PRDM14 c.700+7G>A p.? Unknown Breast COSM21288 BRD3 c.71delC p.P24fs*24 Deletion - Frameshift Large_intestine COSM40724 TRRAP c.9595C>T p.P3199S Substitution - Missense Central_nervous_system COSM4716360 POGZ c.1177delC p.H393fs*77 Deletion - Frameshift Large_intestine COSM1336706 TDRD5 c.193C>T p.R65C Substitution - Missense Central_nervous_system COSM3649299 MYST3 c.3429C>A p.S1143S Substitution - coding silent Skin COSM1374821 MORF4L1 c.697C>A p.L233I Substitution - Missense Large_intestine COSM4163507 BRD3 c.936A>G p.L312L Substitution - coding silent Thyroid COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Bone COSM99741 DNMT3A c.2096G>A p.G699D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM349427 PHF23 c.1017G>C p.L339L Substitution - coding silent Lung COSM3901329 PRDM14 c.281G>A p.W94* Substitution - Nonsense Stomach COSM1610661 BPTF c.5288T>G p.F1763C Substitution - Missense Liver COSM5746703 STK31 c.2053_2054delGA p.E687fs*3 Deletion - Frameshift Pancreas COSM84282 INOC1 c.4324A>G p.K1442E Substitution - Missense Pancreas COSM946185 RNF17 c.487G>A p.E163K Substitution - Missense Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5735078 BAZ1A c.4072C>T p.R1358C Substitution - Missense Pancreas COSM4700984 MBD6 c.2008C>T p.P670S Substitution - Missense Large_intestine COSM1412256 NCOA3 c.3759G>A p.Q1253Q Substitution - coding silent Prostate COSM2209476 PYGO2 c.530C>A p.P177H Substitution - Missense Stomach COSM3212692 GTF3C4 c.75delG p.G27fs*25 Deletion - Frameshift Large_intestine COSM5020977 TRIM24 c.2616C>G p.D872E Substitution - Missense Soft_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3523598 BAHCC1 c.6504C>T p.F2168F Substitution - coding silent Skin COSM1672938 ARID1B c.4816C>T p.R1606* Substitution - Nonsense Large_intestine COSM5436369 TP53BP1 c.2492C>T p.S831L Substitution - Missense Oesophagus COSM4950261 ZMYM3 c.634_635insG p.S213fs*2 Insertion - Frameshift Liver COSM3745324 PHF3 c.2560G>T p.A854S Substitution - Missense Liver COSM3561785 PHF16 c.1549G>A p.E517K Substitution - Missense Skin COSM23051 MEN1 c.1546_1547insC p.R516fs*15 Insertion - Frameshift Large_intestine COSM3720142 KDM4A c.2426A>G p.N809S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5376485 ZMYM2 c.2196G>T p.Q732H Substitution - Missense Skin COSM1367375 SETDB2 c.1245C>T p.N415N Substitution - coding silent Large_intestine COSM1984242 HDGF c.294C>T p.S98S Substitution - coding silent Bone COSM5730599 SETD2 c.1525delA p.S509fs*4 Deletion - Frameshift Breast COSM4680501 EHMT2 c.3002G>A p.R1001Q Substitution - Missense Large_intestine COSM211491 PHF8 c.2444-1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM2078408 PRDM16 c.1710G>A p.T570T Substitution - coding silent Large_intestine COSM5746589 TDRD6 c.632G>A p.R211H Substitution - Missense Pancreas COSM3450132 GLYATL1 c.319C>T p.R107C Substitution - Missense Skin COSM5945455 EP300 c.2997+5G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3394086 BAG6 c.3061C>A p.Q1021K Substitution - Missense Pancreas COSM4617649 GTF3C1 c.285G>T p.E95D Substitution - Missense Large_intestine COSM4957656 PYGO1 c.663T>C p.S221S Substitution - coding silent Liver COSM4956444 MLL5 c.696G>A p.G232G Substitution - coding silent Liver COSM5403152 NSD1 c.4001C>T p.S1334F Substitution - Missense Skin COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4044358 CHD4 c.1559C>A p.P520H Substitution - Missense Stomach COSM23398 MEN1 c.249_252delGTCT p.I85fs*33 Deletion - Frameshift Bone COSM1698978 TRRAP c.3257G>A p.G1086E Substitution - Missense Skin COSM34192 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM449594 NIPBL c.3923C>T p.A1308V Substitution - Missense Large_intestine COSM3926684 TAF1L c.1747C>T p.P583S Substitution - Missense Skin COSM468037 EP400 c.8226A>G p.Q2742Q Substitution - coding silent Central_nervous_system COSM1936528 BAZ2A_ENST00000379441 c.3133C>T p.R1045W Substitution - Missense Large_intestine COSM1073481 EYA4 c.454C>A p.L152I Substitution - Missense Endometrium COSM1625980 KDM5C c.3160C>A p.L1054I Substitution - Missense Liver COSM53054 TET2 c.? p.L862fs*8 Frameshift Haematopoietic_and_lymphoid_tissue COSM3949386 PHF3 c.5670T>G p.I1890M Substitution - Missense Lung COSM221609 TET2 c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1002779 TRIM28 c.899T>A p.L300Q Substitution - Missense Endometrium COSM4558453 PRDM8 c.768G>C p.K256N Substitution - Missense Skin COSM382743 MEAF6 c.278C>T p.S93L Substitution - Missense Lung COSM73623 AKAP1 c.2444T>A p.V815D Substitution - Missense Kidney COSM143414 TTF2 c.1106_1107CC>TT p.P369L Substitution - Missense Skin COSM487307 SMARCA2 c.1289A>T p.E430V Substitution - Missense Kidney COSM1027546 NCOA3 c.3786G>A p.Q1262Q Substitution - coding silent Prostate COSM3457088 HNF1A c.226G>A p.D76N Substitution - Missense Skin COSM3642763 TRRAP c.3096G>A p.K1032K Substitution - coding silent Skin COSM1716655 ATRX c.2329_2335delGGAAAAA p.K778fs*23 Deletion - Frameshift Central_nervous_system COSM1387295 BAHCC1 c.5639G>A p.R1880Q Substitution - Missense Large_intestine COSM937189 EP400 c.8232G>A p.Q2744Q Substitution - coding silent Skin COSM309435 BAZ1B c.3327C>T p.L1109L Substitution - coding silent Soft_tissue COSM5945739 TET2 c.4044+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5880311 PHF6 c.94_94C>GCCTA p.L32fs*5 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM4107277 FMR1 c.615T>G p.A205A Substitution - coding silent Stomach COSM3832057 JHDM1D c.1652C>G p.S551C Substitution - Missense Breast COSM88025 SMARCA4 c.2729C>T p.T910M Substitution - Missense Central_nervous_system COSM392631 ATF7IP c.204delG p.E69fs*3 Deletion - Frameshift Lung COSM5611445 BAP1 c.1027_1028insAGCC p.L343fs*56 Insertion - Frameshift Pleura COSM3693550 ZMYND8 c.1385C>T p.T462M Substitution - Missense Large_intestine COSM755437 SMARCA1 c.446C>T p.T149I Substitution - Missense Lung COSM256033 DNMT3A c.1628G>C p.G543A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM175634 EZH1 c.1327C>T p.R443* Substitution - Nonsense Bone COSM3858836 SHPRH c.4805A>G p.H1602R Substitution - Missense Stomach COSM1713597 EYA2 c.761A>G p.K254R Substitution - Missense Skin COSM1697960 L3MBTL3 c.1655C>T p.A552V Substitution - Missense Skin COSM3911838 ZGPAT c.638C>T p.P213L Substitution - Missense Skin COSM329123 AIRE c.1578T>C p.D526D Substitution - coding silent Thyroid COSM4820745 DIDO1 c.2071G>C p.D691H Substitution - Missense Cervix COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM4506277 CREBBP c.7153C>T p.P2385S Substitution - Missense Skin COSM1701346 PHF2 c.325C>T p.P109S Substitution - Missense Skin COSM5478236 KDM5A c.3999A>G p.R1333R Substitution - coding silent Large_intestine COSM3417254 PHC1 c.157T>C p.F53L Substitution - Missense Large_intestine COSM4099357 ADNP c.736C>T p.R246C Substitution - Missense Stomach COSM4805713 EYA1 c.1318C>A p.R440R Substitution - coding silent Liver COSM5801822 KMT2A c.9864_9865delAT p.R3288fs*2 Deletion - Frameshift Breast COSM1680361 MBD1 c.1075A>G p.K359E Substitution - Missense Large_intestine COSM723125 ASXL1 c.2035G>T p.G679* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5719013 BAHCC1 c.2378C>T p.P793L Substitution - Missense Skin COSM2051952 SMYD3 c.462G>A p.S154S Substitution - coding silent Large_intestine COSM741837 EHMT2 c.2113C>T p.L705L Substitution - coding silent Lung COSM5397077 MSH6 c.3439-1G>A p.? Unknown Skin COSM4885042 TCF20 c.5813G>T p.C1938F Substitution - Missense Upper_aerodigestive_tract COSM5944494 TET2 c.1424_1425insG p.L476fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM327113 TET2 c.3500+10G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4794057 TRRAP c.1963G>A p.V655I Substitution - Missense Liver COSM5487609 CREBBP c.1760_1761insG p.V588fs*20 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM970047 SETD1A c.2323G>A p.E775K Substitution - Missense Endometrium COSM3064098 BRD1 c.3115G>A p.A1039T Substitution - Missense Large_intestine COSM4188375 BAP1 c.580G>T p.G194W Substitution - Missense Kidney COSM4134605 EYA2 c.264A>C p.P88P Substitution - coding silent Thyroid COSM110814 DNMT3A c.? p.R484W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5991248 ACTR6 c.1165G>A p.V389I Substitution - Missense Prostate COSM4767619 KMT2D c.15574G>C p.D5192H Substitution - Missense Oesophagus COSM3758727 DIDO1 c.5682G>A p.R1894R Substitution - coding silent Large_intestine COSM1190725 HAT1 c.75delC p.Y25fs*1 Deletion - Frameshift Lung COSM6010335 BAZ2B c.344G>A p.W115* Substitution - Nonsense Skin COSM419075 SMYD1 c.341T>G p.V114G Substitution - Missense Upper_aerodigestive_tract COSM488404 SUV39H1 c.135C>A p.V45V Substitution - coding silent Kidney COSM4452273 PHF19 c.1739A>T p.Y580F Substitution - Missense Skin COSM894489 TTF2 c.1571G>A p.R524Q Substitution - Missense Endometrium COSM5625239 MSH6 c.188C>T p.S63F Substitution - Missense Oesophagus COSM3359630 EP400 c.5132A>G p.K1711R Substitution - Missense Kidney COSM5752596 NCOR1 c.1603G>T p.E535* Substitution - Nonsense Breast COSM3550505 SETD4 c.336C>T p.T112T Substitution - coding silent Skin COSM43421 TET2 c.5059C>T p.Q1687* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5225478 EZH2 c.589_590delGA p.E197fs*12 Deletion - Frameshift Breast COSM5521261 CHD1 c.98G>T p.G33V Substitution - Missense Biliary_tract COSM3614199 DUSP1 c.971C>T p.P324L Substitution - Missense Skin COSM4584555 SFMBT1 c.988C>G p.P330A Substitution - Missense Bone COSM3021763 JARID2 c.643A>C p.T215P Substitution - Missense Large_intestine COSM88749 CREBBP c.4336C>T p.R1446C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3715648 ZCWPW1 c.1036C>G p.L346V Substitution - Missense Upper_aerodigestive_tract COSM5007311 JMJD1C c.3210G>A p.W1070* Substitution - Nonsense Large_intestine COSM1699625 KMT2C c.8596G>A p.E2866K Substitution - Missense Skin COSM936030 KDM2B c.2584C>A p.L862M Substitution - Missense Endometrium COSM1155717 ASXL1 c.1815C>A p.C605* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM135792 CXXC1 c.1936C>T p.L646F Substitution - Missense Skin COSM5644816 SMYD4 c.1728C>G p.H576Q Substitution - Missense Oesophagus COSM4972489 NCOA2 c.2672T>C p.I891T Substitution - Missense Oesophagus COSM3583874 SMYD1 c.1286C>T p.P429L Substitution - Missense Skin COSM1075287 JARID2 c.3661C>T p.R1221C Substitution - Missense Endometrium COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1362212 SMARCD1 c.879C>T p.H293H Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3786312 PCGF6 c.909G>T p.Q303H Substitution - Missense Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1205872 EYA1 c.1151A>G p.Q384R Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5576201 TRRAP c.2075A>G p.Y692C Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM471642 SRCAP c.5075G>C p.G1692A Substitution - Missense Kidney COSM5709773 CHD1 c.793C>T p.Q265* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5490633 APOBEC1 c.571C>G p.P191A Substitution - Missense Biliary_tract COSM4119168 PBRM1 c.361A>T p.N121Y Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3429362 PRDM9 c.999C>T p.F333F Substitution - coding silent Large_intestine COSM5760572 ATRX c.595-1G>C p.? Unknown Central_nervous_system COSM429386 PHRF1 c.3044_3055del12 p.G1019_S1022delGTRS Deletion - In frame Breast COSM1129057 CHD2 c.2896G>C p.E966Q Substitution - Missense Prostate COSM3924722 CHRAC1 c.288G>A p.K96K Substitution - coding silent Skin COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1015786 TET2 c.73T>C p.C25R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3466204 AICDA c.538C>T p.L180F Substitution - Missense Skin COSM1581320 NIPBL c.185T>G p.V62G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1159415 KMT2C c.8246T>G p.L2749* Substitution - Nonsense Pancreas COSM1483945 BRWD1 c.5100A>G p.L1700L Substitution - coding silent Breast COSM3757250 SUV420H2 c.873G>C p.P291P Substitution - coding silent Large_intestine COSM1708712 GLYR1 c.893G>A p.R298H Substitution - Missense Skin COSM2157012 MECOM c.2585G>A p.R862K Substitution - Missense Central_nervous_system COSM1626992 ARID1A c.6538_6539insT p.A2181fs*44 Insertion - Frameshift Liver COSM5749433 PRDM14 c.913-2A>T p.? Unknown Genital_tract COSM4439688 IDH1 c.614G>T p.W205L Substitution - Missense Oesophagus COSM5743349 TDRD7 c.337_338insT p.L115fs*25 Insertion - Frameshift Small_intestine COSM3965538 ATRX c.315A>G p.E105E Substitution - coding silent Lung COSM5351688 EZH2 c.1943G>T p.G648V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1467019 RBBP7 c.43G>A p.V15I Substitution - Missense Large_intestine COSM3647916 ELP3 c.1381T>A p.F461I Substitution - Missense Skin COSM23379 PCGF6 c.877A>G p.R293G Substitution - Missense Kidney COSM23036 MEN1 c.291_292delCC p.I97fs*19 Deletion - Frameshift Parathyroid COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM51420 ARID1A c.5540_5541insG p.G1848fs*6 Insertion - Frameshift Ovary COSM49154 EZH2 c.2068C>T p.R690C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM73727 ARID2 c.1397A>C p.K466T Substitution - Missense Ovary COSM97046 ASXL1 c.3935C>T p.A1312V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87096 TET2 c.2149_2150delCA p.H717fs*5 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM124461 MLL5 c.2845G>C p.E949Q Substitution - Missense Upper_aerodigestive_tract COSM133017 ARID1A c.6420_6420delC p.F2141fs*59 Deletion - Frameshift Stomach COSM200502 TET2 c.829G>A p.A277T Substitution - Missense Prostate COSM224181 RNF2 c.100G>A p.D34N Substitution - Missense Skin COSM239758 EYA1 c.1674_1676delAGA p.E561delE Deletion - In frame Prostate COSM285228 SMYD3 c.1081G>T p.E361* Substitution - Nonsense Large_intestine COSM340029 RAG2 c.1348G>C p.D450H Substitution - Missense Lung COSM357592 SMARCC1 c.1176G>T p.K392N Substitution - Missense Lung COSM386906 MUM1 c.1245A>G p.L415L Substitution - coding silent Lung COSM417743 MUM1 c.82T>G p.S28A Substitution - Missense Urinary_tract COSM428823 PRMT3 c.1271G>A p.C424Y Substitution - Missense Breast COSM444468 BRWD1 c.5491G>C p.D1831H Substitution - Missense Breast COSM453646 TRRAP c.3742G>C p.E1248Q Substitution - Missense Breast COSM480356 PBRM1 c.2536G>T p.E846* Substitution - Nonsense Kidney COSM484155 TDRD6 c.2746A>C p.K916Q Substitution - Missense Kidney COSM486802 TDRD7 c.1802G>T p.G601V Substitution - Missense Kidney COSM686164 KMT2A c.8124G>A p.Q2708Q Substitution - coding silent Lung COSM1028114 PCNA c.679C>A p.L227I Substitution - Missense Endometrium COSM1026843 CHD6 c.7515G>A p.M2505I Substitution - Missense Endometrium COSM1025730 ASXL1 c.2593G>A p.E865K Substitution - Missense Endometrium COSM754471 MSL3 c.543G>C p.K181N Substitution - Missense Lung COSM935974 HNF1A c.862delG p.P291fs*51 Deletion - Frameshift Large_intestine COSM926749 RAG2 c.1307C>G p.T436S Substitution - Missense Endometrium COSM1001482 SUV420H2 c.356A>G p.N119S Substitution - Missense Liver COSM999208 UHRF1 c.2356G>A p.V786M Substitution - Missense Endometrium COSM1117745 HCFC1 c.2708G>A p.G903D Substitution - Missense Endometrium COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1253879 GTF3C1 c.5918G>A p.R1973Q Substitution - Missense Oesophagus COSM1162748 BRD9 c.928A>T p.M310L Substitution - Missense Pancreas COSM1204453 DOT1L c.4294G>A p.A1432T Substitution - Missense Large_intestine COSM1266249 SMC1A c.793G>C p.E265Q Substitution - Missense Stomach COSM1226769 SMARCA5 c.430C>T p.R144C Substitution - Missense Large_intestine COSM1188058 TDRD1 c.1948G>T p.V650L Substitution - Missense Lung COSM1577227 MEN1 c.152_152delA p.N51fs*68 Deletion - Frameshift Parathyroid COSM1324719 CHD3 c.5706C>T p.S1902S Substitution - coding silent Ovary COSM1448989 EZH2 c.1730C>T p.P577L Substitution - Missense Large_intestine COSM1453210 TRRAP c.8248C>T p.R2750W Substitution - Missense Large_intestine COSM1437254 NIPBL c.71A>G p.N24S Substitution - Missense Large_intestine COSM1624026 MYST3 c.2600G>T p.R867L Substitution - Missense Liver COSM1638979 RSF1 c.1158delA p.K386fs*6 Deletion - Frameshift Large_intestine COSM1672249 JARID2 c.1577C>G p.S526C Substitution - Missense Large_intestine COSM1676745 ATF7IP c.1660C>T p.R554* Substitution - Nonsense Ovary COSM1757269 KDM6A c.226-2A>G p.? Unknown Urinary_tract COSM1731720 SP140_ENST00000392045 c.458A>G p.D153G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1749886 RAI1 c.967C>T p.Q323* Substitution - Nonsense Urinary_tract COSM1749932 PHF12 c.9G>A p.E3E Substitution - coding silent Urinary_tract COSM1747491 TDRD3 c.1773C>T p.F591F Substitution - coding silent Urinary_tract COSM2151288 BAZ2A c.1595C>T p.S532F Substitution - Missense Central_nervous_system COSM2210699 ASH1L c.4411C>T p.P1471S Substitution - Missense Skin COSM2260274 MTF2 c.926C>G p.A309G Substitution - Missense Bone COSM2859906 TRIM24 c.2252delA p.N752fs*14 Deletion - Frameshift Large_intestine COSM2919944 CREBBP c.5039C>T p.S1680F Substitution - Missense Skin COSM2974800 TRIM28 c.2143G>A p.E715K Substitution - Missense Large_intestine COSM3144753 L3MBTL4 c.1049C>T p.P350L Substitution - Missense Large_intestine COSM3296137 MBD5 c.1536C>T p.S512S Substitution - coding silent Skin COSM3394838 ACTB c.747C>T p.T249T Substitution - coding silent Pancreas COSM3389676 DNMT3B c.1636C>A p.L546M Substitution - Missense Large_intestine COSM3488855 ZMYM6 c.3727G>A p.G1243R Substitution - Missense Skin COSM3508898 SRCAP c.2330C>T p.P777L Substitution - Missense Skin COSM3423655 CHD6 c.591G>T p.K197N Substitution - Missense Large_intestine COSM3450648 PHRF1 c.3427G>A p.E1143K Substitution - Missense Skin COSM3463527 BAZ2A c.4480C>T p.R1494* Substitution - Nonsense Skin COSM3636531 KMT2C c.2368G>A p.D790N Substitution - Missense Skin COSM3614492 NSD1 c.103G>A p.G35S Substitution - Missense Skin COSM3596392 ACTR8 c.405G>T p.Q135H Substitution - Missense Skin COSM3555669 HDAC10 c.1168G>A p.A390T Substitution - Missense Skin COSM3545568 NCOA6 c.578C>T p.S193F Substitution - Missense Skin COSM3550504 SETD4 c.668C>T p.P223L Substitution - Missense Skin COSM3548770 DIDO1 c.6020C>T p.S2007L Substitution - Missense Prostate COSM3548773 DIDO1 c.5824C>T p.P1942S Substitution - Missense Skin COSM3531068 GATAD2A c.1211C>T p.P404L Substitution - Missense Skin COSM3531633 DOT1L c.5130C>T p.A1710A Substitution - coding silent Skin COSM3521173 BPTF c.853G>A p.E285K Substitution - Missense Skin COSM3732550 INOC1 c.3978G>A p.V1326V Substitution - coding silent Stomach COSM3710201 PHRF1 c.1133G>T p.R378I Substitution - Missense Upper_aerodigestive_tract COSM3733889 KDM6A c.1831C>T p.Q611* Substitution - Nonsense Pancreas COSM3740106 PHF20 c.2088T>A p.V696V Substitution - coding silent Liver COSM3751894 JMJD1C c.6489C>G p.D2163E Substitution - Missense Large_intestine COSM3795314 RAI1 c.4523C>T p.S1508F Substitution - Missense Urinary_tract COSM3804388 KDM1A c.1189G>C p.E397Q Substitution - Missense Breast COSM3808057 HELLS c.671G>A p.R224Q Substitution - Missense Breast COSM3853746 DUSP1 c.973G>A p.A325T Substitution - Missense Stomach COSM3968248 KMT2D c.1545G>A p.L515L Substitution - coding silent Central_nervous_system COSM4015528 SFMBT2 c.886C>A p.R296R Substitution - coding silent Stomach COSM4010651 MTF2 c.1522C>T p.L508F Substitution - Missense Stomach COSM4007330 ZMYM6 c.83A>G p.D28G Substitution - Missense Stomach COSM4054496 RTF1 c.613C>T p.R205C Substitution - Missense Stomach COSM4098973 NCOA5 c.1335G>T p.T445T Substitution - coding silent Stomach COSM4114056 ZBTB38 c.2494A>G p.N832D Substitution - Missense Stomach COSM4110861 ZMYM3 c.750A>G p.K250K Substitution - coding silent Stomach COSM4121131 TET2 c.1706C>T p.A569V Substitution - Missense Stomach COSM4061228 FTO c.1011C>T p.R337R Substitution - coding silent Stomach COSM4134464 NCOA6 c.2832T>A p.D944E Substitution - Missense Thyroid COSM4129156 SETD6 c.478A>G p.I160V Substitution - Missense Thyroid COSM4138885 WDR5 c.515A>C p.D172A Substitution - Missense Kidney COSM4396344 TRRAP c.10453C>T p.R3485W Substitution - Missense Skin COSM4401940 HNF1A c.239A>G p.D80G Substitution - Missense Skin COSM4402334 PHF11 c.362G>A p.G121E Substitution - Missense Skin COSM4444403 ATF7IP c.3001C>T p.R1001* Substitution - Nonsense Large_intestine COSM4564628 NCOA6 c.1317_1318CC>TT p.P440S Substitution - Missense Skin COSM4490727 AP001011.3_ENST00000320876 c.3685C>T p.P1229S Substitution - Missense Skin COSM4484555 DIDO1 c.2823C>T p.S941S Substitution - coding silent Skin COSM4426271 NCOA3 c.2375A>T p.E792V Substitution - Missense Oesophagus COSM4508869 ZMYND11 c.669C>T p.Y223Y Substitution - coding silent Skin COSM4448924 SP140_ENST00000392045 c.1444+1G>A p.? Unknown Skin COSM4451292 RBBP5 c.1147A>T p.I383F Substitution - Missense Skin COSM4674637 CREBBP c.7175C>T p.A2392V Substitution - Missense Large_intestine COSM4762608 POGZ c.3532G>T p.G1178W Substitution - Missense Stomach COSM4637167 TRIM24 c.1426C>T p.Q476* Substitution - Nonsense Large_intestine COSM4642022 BRD7 c.1922C>T p.T641M Substitution - Missense Large_intestine COSM4766115 TET2 c.4204_4204delG p.D1402fs*46 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4754489 SMARCC1 c.2356G>C p.D786H Substitution - Missense Stomach COSM4793757 BAHCC1 c.715C>T p.P239S Substitution - Missense Liver COSM4800898 ATAD2 c.2231T>A p.L744Q Substitution - Missense Liver COSM4932169 GABRG1 c.588C>A p.P196P Substitution - coding silent Liver COSM4842363 NCOA1 c.2186C>G p.S729C Substitution - Missense Cervix COSM4839612 TP53BP1 c.5218A>G p.T1740A Substitution - Missense Cervix COSM4818733 KDM3B c.2456C>G p.S819* Substitution - Nonsense Cervix COSM4984989 HNF1A c.1460G>A p.S487N Substitution - Missense Soft_tissue COSM5019722 KMT2C c.850-7C>T p.? Unknown Soft_tissue COSM5012941 CHD2 c.2095C>T p.R699W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5027613 CBX5 c.343C>T p.R115W Substitution - Missense Breast COSM5106965 BAZ2A_ENST00000379441 c.2072G>A p.R691H Substitution - Missense Large_intestine COSM5039779 MGA c.7849G>A p.G2617R Substitution - Missense Liver COSM5041971 ING4 c.469G>A p.A157T Substitution - Missense Liver COSM5347141 ARID1A c.5395G>T p.E1799* Substitution - Nonsense Endometrium COSM5347471 ARID1A c.5433_5443del11 p.L1812fs*6 Deletion - Frameshift Liver COSM5363047 PYGO1 c.1248C>A p.G416G Substitution - coding silent Large_intestine COSM5380790 ZMYM1 c.3141C>T p.F1047F Substitution - coding silent Skin COSM5356204 PRMT10 c.409G>A p.A137T Substitution - Missense Large_intestine COSM5357762 PHIP c.441G>A p.A147A Substitution - coding silent Large_intestine COSM5451865 BRPF3 c.3324C>T p.G1108G Substitution - coding silent Large_intestine COSM5460646 SETDB1 c.579C>T p.S193S Substitution - coding silent Large_intestine COSM5634060 ATAD2 c.3046G>A p.D1016N Substitution - Missense Oesophagus COSM5576271 ARID1A c.3297_3298delTC p.Y1101fs*3 Deletion - Frameshift Stomach COSM5760325 PYGO1 c.124G>T p.A42S Substitution - Missense Bone COSM5656366 KMT2C c.6823_6830delACACCTAG p.T2275fs*11 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5724594 TRIM33 c.2406G>T p.R802S Substitution - Missense Skin COSM5599045 AIRE c.623G>A p.G208E Substitution - Missense Skin COSM5597568 SETBP1 c.427C>T p.R143C Substitution - Missense Skin COSM5691607 CHD7 c.5649G>T p.M1883I Substitution - Missense Soft_tissue COSM5785250 BRDT c.2624C>A p.S875Y Substitution - Missense Breast COSM5794490 KDM4A c.2195C>G p.T732S Substitution - Missense Breast COSM5878868 DNMT3A c.893G>A p.G298E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5797461 BPTF c.6700+5A>T p.? Unknown Breast COSM5904040 CHD6 c.5591G>A p.S1864N Substitution - Missense Skin COSM5900622 SUZ12 c.1444C>T p.P482S Substitution - Missense Skin COSM5940041 JMJD1C c.5605C>T p.P1869S Substitution - Missense Skin COSM5986560 NCOR1 c.3016_3016+1ins10 p.V1006fs*15 Unknown Haematopoietic_and_lymphoid_tissue COSM6000209 ATF7IP c.642G>A p.P214P Substitution - coding silent Prostate COSM6002857 BPTF c.4004A>G p.E1335G Substitution - Missense Prostate COSM6003024 PCGF2 c.826C>A p.L276M Substitution - Missense Prostate COSM6014926 KMT2D c.12432C>T p.S4144S Substitution - coding silent Skin COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1169685 TET2 c.? p.S1525fs*53 Frameshift Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM132971 ASXL1 c.? p.T1018fs*8 Frameshift Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Central_nervous_system COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM422834 PBRM1 c.4289-1G>C p.? Unknown Kidney COSM86082 KMT2C c.2418C>G p.S806S Substitution - coding silent Soft_tissue COSM3358529 PBRM1 c.2242delG p.D748fs*27 Deletion - Frameshift Kidney COSM100058 TET2 c.4333C>T p.Q1445* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1162177 GTF3C1 c.1346G>A p.R449H Substitution - Missense Pancreas COSM4984325 EP300 c.3699G>A p.K1233K Substitution - coding silent Oesophagus COSM1183857 ATAD2 c.3931A>G p.T1311A Substitution - Missense Large_intestine COSM5346193 ARID2 c.601A>C p.T201P Substitution - Missense Urinary_tract COSM1169523 DNMT3A c.? p.W893* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM86082 KMT2C c.2418C>G p.S806S Substitution - coding silent Lung COSM4880787 AIRE c.979C>A p.L327I Substitution - Missense Prostate COSM1049004 SETD5_ENST00000402198 c.3264_3265delCT p.S1089fs*16 Deletion - Frameshift Endometrium COSM5752576 KMT2D c.4972+1G>T p.? Unknown Breast COSM41644 TET2 c.1648C>T p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM30588 SMARCA4 c.3476delG p.L1161fs*3 Deletion - Frameshift Lung COSM5358724 MYST3 c.3871C>T p.Q1291* Substitution - Nonsense Large_intestine COSM1660794 BRD1 c.2425G>A p.E809K Substitution - Missense Kidney COSM1674452 TAF1L c.1597C>T p.P533S Substitution - Missense Skin COSM4694041 KAT2A c.1297A>G p.K433E Substitution - Missense Large_intestine COSM4407051 PRDM9 c.2276A>G p.D759G Substitution - Missense Liver COSM1128636 ATF7IP c.1589A>G p.K530R Substitution - Missense Prostate COSM4754514 MBD1 c.1106G>T p.R369L Substitution - Missense Stomach COSM3420315 TP53BP1 c.1494G>T p.K498N Substitution - Missense Large_intestine COSM1158936 SUV420H1 c.2418T>C p.L806L Substitution - coding silent Pancreas COSM455829 TAF1L c.2345T>A p.L782Q Substitution - Missense Breast COSM3924309 TRRAP c.1498C>T p.P500S Substitution - Missense Skin COSM5426313 KMT2C c.2613C>T p.P871P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5120258 ATRX c.1753G>A p.E585K Substitution - Missense Large_intestine COSM3400093 RNF2 c.821G>A p.S274N Substitution - Missense Central_nervous_system COSM4466122 FTO c.1417C>T p.R473W Substitution - Missense Skin COSM1358318 HCFC2 c.64G>A p.A22T Substitution - Missense Large_intestine COSM1496503 TRIM24 c.2835G>C p.L945F Substitution - Missense Kidney COSM1754384 PRDM13 c.1830C>T p.F610F Substitution - coding silent Urinary_tract COSM1729897 ZMYM3 c.472G>T p.E158* Substitution - Nonsense Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM549165 BAZ2A_ENST00000379441 c.5655C>T p.I1885I Substitution - coding silent Bone COSM1701905 WDR5 c.443_444CC>TT p.S148F Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM3833037 ACTB c.364-1G>T p.? Unknown Breast COSM234365 ADNP c.2682C>T p.D894D Substitution - coding silent Skin COSM4488463 HDAC3 c.332C>T p.S111F Substitution - Missense Skin COSM4411206 SCMH1 c.1058C>T p.A353V Substitution - Missense Kidney COSM730419 KAT2B c.2205C>T p.I735I Substitution - coding silent Lung COSM3525438 ASXL3 c.1765G>A p.E589K Substitution - Missense Skin COSM5913353 CHD4 c.3529C>T p.R1177C Substitution - Missense Skin COSM43503 TET2 c.? p.Q943* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM253100 SMARCA1 c.2128delA p.M710fs*6 Deletion - Frameshift Large_intestine COSM3795395 PHF12 c.864G>C p.Q288H Substitution - Missense Urinary_tract COSM3743730 DNMT3A c.2581T>C p.C861R Substitution - Missense Liver COSM2166353 KAT5 c.597G>A p.P199P Substitution - coding silent Breast COSM3374504 TRIM24 c.2000C>T p.S667F Substitution - Missense Thyroid COSM4655803 CHD6 c.8041G>A p.G2681S Substitution - Missense Large_intestine COSM1738265 SETMAR c.677G>C p.C226S Substitution - Missense Ovary COSM5063807 EHMT1 c.3230C>A p.A1077E Substitution - Missense Stomach COSM234844 KDM4C c.2778C>T p.I926I Substitution - coding silent Endometrium COSM4729940 SRCAP c.4764T>G p.A1588A Substitution - coding silent Large_intestine COSM4433520 PCGF6 c.945delG p.Q315fs*5 Deletion - Frameshift Oesophagus COSM110768 TET2 c.2596C>T p.Q866* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5764595 ASXL3 c.1819G>A p.A607T Substitution - Missense Large_intestine COSM1377536 SETD1A c.3449G>A p.R1150H Substitution - Missense Large_intestine COSM3166304 ATAD2 c.3909G>T p.Q1303H Substitution - Missense Large_intestine COSM2911475 NCOA1 c.3866C>T p.A1289V Substitution - Missense Large_intestine COSM4022074 SETDB1 c.2345A>G p.N782S Substitution - Missense Stomach COSM3814984 ARID4A c.2476C>T p.H826Y Substitution - Missense Skin COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1488395 KMT2C c.4600C>T p.Q1534* Substitution - Nonsense Breast COSM4046334 ZMYM5 c.963C>A p.P321P Substitution - coding silent Stomach COSM5486509 PRDM1 c.1338G>A p.E446E Substitution - coding silent Large_intestine COSM459416 MBD6 c.2215C>G p.L739V Substitution - Missense Cervix COSM4787586 PHC2 c.1930C>A p.L644I Substitution - Missense Liver COSM431203 KMT2D c.10026G>A p.Q3342Q Substitution - coding silent Soft_tissue COSM1436878 PRDM9 c.550C>T p.R184* Substitution - Nonsense Large_intestine COSM4169522 TET2 c.? p.K53E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5818667 TRIM24 c.2859A>G p.Q953Q Substitution - coding silent Liver COSM2948456 KAT2B c.1583G>A p.R528Q Substitution - Missense Large_intestine COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1472698 TDRD10 c.786C>T p.H262H Substitution - coding silent Breast COSM3943997 ZMYM4 c.496T>C p.F166L Substitution - Missense Ovary COSM4154556 BAZ2B c.2116G>A p.A706T Substitution - Missense Kidney COSM1560994 RNF134 c.83_84insGCCTCC p.P28_V29insPP Insertion - In frame Large_intestine COSM1449484 KMT2C c.568C>T p.R190* Substitution - Nonsense Large_intestine COSM273230 SETD3 c.1345A>G p.K449E Substitution - Missense Large_intestine COSM116024 NIPBL c.1045A>G p.S349G Substitution - Missense Ovary COSM1019233 DNMT3A c.1986C>A p.A662A Substitution - coding silent Endometrium COSM1494248 SMARCA4 c.3547-2A>G p.? Unknown Kidney COSM2965492 KDM6A c.4082G>A p.C1361Y Substitution - Missense Urinary_tract COSM289873 EYA4 c.815C>A p.S272Y Substitution - Missense Large_intestine COSM5751997 EP300 c.5336_5337insT p.I1781fs*102 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM415321 KMT2A c.8408C>T p.S2803L Substitution - Missense Urinary_tract COSM4480241 BAHD1 c.23C>T p.S8F Substitution - Missense Skin COSM126337 SMYD1 c.418G>T p.G140W Substitution - Missense Upper_aerodigestive_tract COSM3304723 KMT2C c.431C>T p.S144F Substitution - Missense Skin COSM749285 PHF20L1 c.769G>T p.G257C Substitution - Missense Lung COSM4935861 ARID1B c.125T>A p.L42H Substitution - Missense Liver COSM1195719 BAZ2A_ENST00000379441 c.1175C>T p.A392V Substitution - Missense Lung COSM1190934 SMARCA4 c.2988delC p.K997fs*22 Deletion - Frameshift Lung COSM1339244 LBR c.1329G>A p.T443T Substitution - coding silent Large_intestine COSM1051632 SMARCA5 c.2882A>C p.K961T Substitution - Missense Endometrium COSM1161914 KDM5C c.4213G>C p.E1405Q Substitution - Missense Kidney COSM3464405 CHD4 c.1676C>T p.S559F Substitution - Missense Skin COSM5739839 SETD1B c.596C>T p.P199L Substitution - Missense Small_intestine COSM4650292 HNF1A c.1741G>A p.A581T Substitution - Missense Large_intestine COSM3680549 PHF23 c.997+10T>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM972470 CTCF c.488G>A p.G163E Substitution - Missense Endometrium COSM5912636 KMT2C c.9254C>A p.P3085H Substitution - Missense Skin COSM3578908 SP140_ENST00000392045 c.1879G>A p.E627K Substitution - Missense Skin COSM990737 SMARCA4 c.1590C>G p.L530L Substitution - coding silent Endometrium COSM3160320 PHF3 c.4464G>A p.M1488I Substitution - Missense Upper_aerodigestive_tract COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5608137 CREBBP c.2012C>A p.S671* Substitution - Nonsense Skin COSM5893473 KAT6B c.1085C>T p.S362F Substitution - Missense Skin COSM3787237 CDYL2 c.639A>G p.G213G Substitution - coding silent Pancreas COSM51927 HELLS c.1847A>G p.H616R Substitution - Missense Kidney COSM3667715 MGA c.7093A>G p.I2365V Substitution - Missense Liver COSM367423 TDRD6 c.2835G>C p.Q945H Substitution - Missense Lung COSM6002962 NCOR1 c.3437G>A p.R1146Q Substitution - Missense Prostate COSM36166 ASXL1 c.1772_1773insA p.Y591fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2098085 RNF2 c.671G>T p.S224I Substitution - Missense Lung COSM941551 SMARCC2 c.2751A>G p.R917R Substitution - coding silent Endometrium COSM1616091 PRDM15 c.4404G>T p.T1468T Substitution - coding silent Liver COSM3763347 MYST3 c.4455C>T p.S1485S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM126885 PRMT8 c.713G>A p.W238* Substitution - Nonsense Upper_aerodigestive_tract COSM3365480 PRDM5 c.1672C>A p.R558R Substitution - coding silent Kidney COSM196575 RSF1 c.2530C>T p.R844* Substitution - Nonsense Skin COSM1687262 ARID1A c.2027C>T p.P676L Substitution - Missense Skin COSM908641 ZMYM1 c.1516A>G p.T506A Substitution - Missense Endometrium COSM253161 AKAP1 c.946G>A p.G316S Substitution - Missense Pancreas COSM4887927 TFPT c.565G>A p.G189R Substitution - Missense Upper_aerodigestive_tract COSM4694867 KDM1B c.340delA p.I116fs*48 Deletion - Frameshift Large_intestine COSM85913 IKZF1 c.1-?_160+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM685411 SFMBT2 c.215G>T p.S72I Substitution - Missense Lung COSM3382536 KIAA2026_ENST00000399933 c.5433G>A p.S1811S Substitution - coding silent Large_intestine COSM255113 MEN1 c.241_242insG p.A81fs*36 Insertion - Frameshift Parathyroid COSM5807213 MLL5 c.3374C>A p.S1125Y Substitution - Missense Liver COSM3818096 FTO c.574G>C p.D192H Substitution - Missense Breast COSM1061339 KDM3B c.2301C>T p.N767N Substitution - coding silent Endometrium COSM3365384 PBRM1 c.2567+1G>A p.? Unknown Kidney COSM1370238 ARID4A c.2607A>T p.I869I Substitution - coding silent Upper_aerodigestive_tract COSM1710869 CBX2 c.1447C>T p.P483S Substitution - Missense Skin COSM3666444 PHRF1 c.703G>T p.V235F Substitution - Missense Liver COSM249343 PRDM16 c.518G>A p.R173H Substitution - Missense Breast COSM987893 ASXL3 c.125G>A p.R42Q Substitution - Missense Endometrium COSM1027964 ADNP c.2818C>A p.H940N Substitution - Missense Endometrium COSM1607437 MTA1 c.133T>C p.F45L Substitution - Missense Liver COSM1311007 NSD1 c.2517G>A p.L839L Substitution - coding silent Urinary_tract COSM137392 FXR1 c.19G>T p.E7* Substitution - Nonsense Skin COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1708571 CHD2 c.916C>T p.Q306* Substitution - Nonsense Skin COSM3410222 PRDM9 c.2483G>T p.G828V Substitution - Missense Central_nervous_system COSM3563668 BRWD3 c.5129G>A p.G1710E Substitution - Missense Skin COSM1411069 ASXL1 c.1375G>A p.A459T Substitution - Missense Large_intestine COSM5878945 TET2 c.1250_1251insG p.L418fs*25 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1225439 SFMBT2 c.721C>T p.R241* Substitution - Nonsense Pancreas COSM87161 TET2 c.4138C>T p.H1380Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1583061 DNMT3A c.1453_1453delC p.Q485fs*166 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5576294 ARID1A c.2999delC p.S1000fs*39 Deletion - Frameshift Stomach COSM1251048 EHMT1 c.1649G>A p.R550H Substitution - Missense Stomach COSM3097156 ATRX c.1529C>T p.S510F Substitution - Missense Upper_aerodigestive_tract COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1470853 GTF3C1 c.5807G>T p.S1936I Substitution - Missense Prostate COSM5944502 TET2 c.2308_2309insA p.R771fs*10 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4797873 BAHCC1 c.1249G>A p.A417T Substitution - Missense Liver COSM5620488 CHD9 c.4376C>T p.A1459V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1685359 SETBP1 c.? p.G870D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5730852 AKAP1 c.1137T>C p.S379S Substitution - coding silent Breast COSM5454765 KDM4B c.1196C>T p.A399V Substitution - Missense Large_intestine COSM1636719 FXR1 c.1631C>A p.A544D Substitution - Missense Bone COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM88764 CREBBP c.3375T>A p.Y1125* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM270714 MGA c.5599C>T p.R1867* Substitution - Nonsense Large_intestine COSM4751600 ARID1A c.2834G>A p.G945E Substitution - Missense Skin COSM217448 SMARCA2 c.545delT p.R183fs*5 Deletion - Frameshift Liver COSM5738320 WHSC1L1 c.1826A>G p.Q609R Substitution - Missense Small_intestine COSM4766053 SMARCA4 c.?_?del? p.?fs Deletion - Frameshift Breast COSM5095526 DNMT3A c.1579C>T p.Q527* Substitution - Nonsense Thymus COSM4072239 SETBP1 c.2244C>T p.H748H Substitution - coding silent Stomach COSM402355 RUVBL1 c.1099A>T p.T367S Substitution - Missense Lung COSM88025 SMARCA4 c.2729C>T p.T910M Substitution - Missense Large_intestine COSM3640342 BAZ1B c.3750T>A p.A1250A Substitution - coding silent Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5576701 HCFC1 c.1844C>T p.T615I Substitution - Missense Skin COSM4887568 LMNA c.1163G>T p.R388L Substitution - Missense Upper_aerodigestive_tract COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3307242 HDAC9 c.2189C>T p.S730F Substitution - Missense Skin COSM3608985 KDM3B c.3726C>T p.S1242S Substitution - coding silent Skin COSM4002747 PBRM1 c.3597A>T p.P1199P Substitution - coding silent Soft_tissue COSM1233546 ZMYND11 c.79G>A p.E27K Substitution - Missense Large_intestine COSM4064156 NCOR1 c.4485C>T p.G1495G Substitution - coding silent Stomach COSM1093566 TRRAP c.1429C>G p.L477V Substitution - Missense Endometrium COSM1491700 GATAD2B c.465+2T>A p.? Unknown Kidney COSM4002747 PBRM1 c.3597A>T p.P1199P Substitution - coding silent Soft_tissue COSM3890992 INO80C c.197C>T p.P66L Substitution - Missense Skin COSM4635790 HCFC1 c.2395G>A p.G799R Substitution - Missense Large_intestine COSM1716639 ATRX c.1597G>T p.E533* Substitution - Nonsense Central_nervous_system COSM1087430 SMARCD3 c.1297C>T p.R433W Substitution - Missense Endometrium COSM3660337 PHC3 c.1446T>G p.S482R Substitution - Missense Liver COSM473498 CHD3 c.3420C>T p.G1140G Substitution - coding silent Kidney COSM737900 NIPBL c.4903G>A p.E1635K Substitution - Missense Lung COSM4792463 KDM4C c.139G>T p.A47S Substitution - Missense Liver COSM4066861 HDAC5 c.214C>T p.R72W Substitution - Missense Stomach COSM125571 PRDM9 c.2273G>A p.R758H Substitution - Missense Pancreas COSM4169562 MSH6 c.2581G>T p.A861S Substitution - Missense Central_nervous_system COSM476830 IDH1 c.855T>G p.Y285* Substitution - Nonsense Kidney COSM5587666 DNMT3L c.1081C>A p.P361T Substitution - Missense Skin COSM1002774 TRIM28 c.382G>T p.D128Y Substitution - Missense Endometrium COSM938879 PRMT8 c.1014C>T p.T338T Substitution - coding silent Endometrium COSM232276 EYA2 c.584C>T p.S195L Substitution - Missense Skin COSM4610300 ARID4A c.3266G>A p.R1089H Substitution - Missense Large_intestine COSM5552758 SIRT5 c.369G>C p.E123D Substitution - Missense Prostate COSM485073 KMT2C c.12656T>C p.L4219P Substitution - Missense Kidney COSM2965385 KDM6A c.2264C>T p.T755M Substitution - Missense Upper_aerodigestive_tract COSM3430900 PHIP c.1508G>A p.R503Q Substitution - Missense Large_intestine COSM941744 BAZ2A_ENST00000379441 c.3694C>A p.Q1232K Substitution - Missense Endometrium COSM4592311 JARID2 c.2084C>G p.A695G Substitution - Missense Upper_aerodigestive_tract COSM196959 BRWD3 c.3976C>T p.R1326* Substitution - Nonsense Endometrium COSM5820264 MLL5 c.607T>C p.Y203H Substitution - Missense Liver COSM4979237 EYA2 c.547A>T p.N183Y Substitution - Missense Oesophagus COSM4794120 BRPF3 c.2084G>A p.R695Q Substitution - Missense Liver COSM4060274 SETD1A c.1248G>A p.E416E Substitution - coding silent Stomach COSM4170421 KMT2D c.7633C>T p.Q2545* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4592007 RAI1 c.841_843delCAG p.Q291delQ Deletion - In frame Upper_aerodigestive_tract COSM5361414 CHD4 c.1857C>T p.P619P Substitution - coding silent Large_intestine COSM1067072 PRDM9 c.836G>A p.R279Q Substitution - Missense Endometrium COSM697530 CHD8 c.1646C>T p.S549L Substitution - Missense Lung COSM43421 TET2 c.5059C>T p.Q1687* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM21483 HNF1A c.379A>T p.N127Y Substitution - Missense Liver COSM1026095 NCOA6 c.2019G>A p.S673S Substitution - coding silent Endometrium COSM907748 ARID1A c.5899C>T p.L1967L Substitution - coding silent Endometrium COSM723727 ACTR5 c.1146C>A p.L382L Substitution - coding silent Lung COSM1309657 PRDM5 c.83G>A p.R28K Substitution - Missense Urinary_tract COSM3203719 MECOM c.465C>T p.V155V Substitution - coding silent Skin COSM170344 ASH1L c.6217C>T p.R2073C Substitution - Missense Skin COSM249420 SETD2 c.4398delA p.K1466fs*2 Deletion - Frameshift Kidney COSM5611428 BAP1 c.44delT p.F15fs*57 Deletion - Frameshift Pleura COSM444569 AIRE c.1197T>C p.A399A Substitution - coding silent Large_intestine COSM1388722 SETBP1 c.2959C>T p.R987W Substitution - Missense Skin COSM4708345 NSD1 c.2586C>T p.S862S Substitution - coding silent Large_intestine COSM3923300 HDAC9 c.104C>T p.P35L Substitution - Missense Skin COSM4702522 KMT2C c.511_513delAAG p.K171delK Deletion - In frame Large_intestine COSM1731415 SIRT1 c.1447G>T p.D483Y Substitution - Missense Liver COSM1133050 ARID1A c.5803G>T p.E1935* Substitution - Nonsense Endometrium COSM2812035 SETBP1 c.927C>T p.N309N Substitution - coding silent Bone COSM1300701 ARID4A c.3011C>G p.S1004* Substitution - Nonsense Urinary_tract COSM1088613 STK31 c.91G>A p.D31N Substitution - Missense Endometrium COSM1602160 ARID1A c.6747_6748delAG p.E2250fs*27 Deletion - Frameshift Liver COSM3827920 PRDM9 c.2544C>T p.L848L Substitution - coding silent Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5373882 KDM4D c.455G>A p.W152* Substitution - Nonsense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4739132 UHRF1 c.865G>A p.E289K Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5412154 FMR1 c.1265A>G p.N422S Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4827657 SFMBT1 c.2284C>T p.R762C Substitution - Missense Large_intestine COSM1043292 KAT2B c.1469G>A p.R490H Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4728464 SMEK1 c.63C>T p.D21D Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM176577 ZMYM5 c.854G>A p.R285Q Substitution - Missense Breast COSM376976 TAF1 c.4154T>A p.L1385Q Substitution - Missense Lung COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1413007 DIDO1 c.6258G>T p.R2086S Substitution - Missense Large_intestine COSM4120583 SETD5_ENST00000402198 c.1742A>C p.Q581P Substitution - Missense Stomach COSM438122 SETBP1 c.3982G>A p.D1328N Substitution - Missense Breast COSM1632997 ACTL6A c.65C>G p.T22S Substitution - Missense Liver COSM1137070 PBRM1 c.1918A>T p.K640* Substitution - Nonsense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4613810 PRDM10 c.137_138insC p.Q47fs*59 Insertion - Frameshift Large_intestine COSM415997 HNF1A c.521C>T p.A174V Substitution - Missense Skin COSM1034773 TCF20 c.1847G>A p.R616Q Substitution - Missense Biliary_tract COSM99740 DNMT3A c.2645G>C p.R882P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5752561 PRDM1 c.2259C>A p.C753* Substitution - Nonsense Breast COSM5945243 KDM5A c.1773G>A p.W591* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM674182 SMARCB1 c.511_512insC p.H171fs*2 Insertion - Frameshift Central_nervous_system COSM5985268 KMT2C c.8137G>A p.D2713N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4790998 WHSC1 c.2377C>T p.H793Y Substitution - Missense Liver COSM5602412 TDRD3 c.974C>T p.T325I Substitution - Missense Skin COSM1125849 BRWD3 c.2673G>T p.L891F Substitution - Missense Endometrium COSM116746 LMNB1 c.1700A>G p.E567G Substitution - Missense Ovary COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5079685 SMARCC2 c.302A>G p.K101R Substitution - Missense Large_intestine COSM3945849 TET2 c.5551G>T p.E1851* Substitution - Nonsense Lung COSM4693862 JMJD6 c.1117C>T p.R373C Substitution - Missense Large_intestine COSM3393942 ARID1B c.3347C>A p.S1116* Substitution - Nonsense Pancreas COSM4649831 JMJD1C c.509T>C p.I170T Substitution - Missense Large_intestine COSM2739084 NCOR1 c.361C>T p.R121C Substitution - Missense Skin COSM5349812 KMT2D c.4969C>T p.Q1657* Substitution - Nonsense Lung COSM215529 ARID2 c.4576delA p.T1526fs*9 Deletion - Frameshift Central_nervous_system COSM132970 ASXL1 c.? p.G659fs*9 Frameshift Haematopoietic_and_lymphoid_tissue COSM42000 TET2 c.1720C>T p.Q574* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3805097 MEAF6 c.275C>T p.S92F Substitution - Missense Large_intestine COSM5353779 RAD54L c.185C>T p.P62L Substitution - Missense Large_intestine COSM5900356 SUZ12 c.1699C>T p.H567Y Substitution - Missense Skin COSM237741 KMT2C c.9517+7A>G p.? Unknown Prostate COSM1671894 BRD8 c.445A>C p.K149Q Substitution - Missense Large_intestine COSM3699804 KDM4C c.2171G>A p.R724Q Substitution - Missense Large_intestine COSM4160096 PRDM1 c.1078C>T p.P360S Substitution - Missense Thyroid COSM5798727 INTS12 c.648G>A p.M216I Substitution - Missense Breast COSM2152341 KDM1B c.1292C>A p.A431D Substitution - Missense Central_nervous_system COSM4081177 TFPT c.623C>T p.P208L Substitution - Missense Stomach COSM1383430 EZH1 c.2165A>G p.E722G Substitution - Missense Kidney COSM29732 MSH6 c.1483C>T p.R495* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Endometrium COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM107869 EP400 c.126C>T p.F42F Substitution - coding silent Skin COSM88745 CREBBP c.4508A>T p.Y1503F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM112087 TDG c.286_287insA p.I98fs*6 Insertion - Frameshift Upper_aerodigestive_tract COSM146933 ERCC6 c.3689G>C p.R1230P Substitution - Missense Stomach COSM162082 L3MBTL1 c.328G>A p.A110T Substitution - Missense Breast COSM161879 KDM1B c.1458C>T p.V486V Substitution - coding silent Breast COSM196570 RSF1 c.3805C>T p.R1269W Substitution - Missense Large_intestine COSM219420 ATRX c.6864T>A p.R2288R Substitution - coding silent Breast COSM219343 SFMBT2 c.1922G>C p.S641T Substitution - Missense Breast COSM251401 ARID1A c.1210C>T p.Q404* Substitution - Nonsense Liver COSM262472 NSD1 c.4366G>T p.D1456Y Substitution - Missense Large_intestine COSM293686 SP140_ENST00000392045 c.2008delA p.K672fs*4 Deletion - Frameshift Stomach COSM314121 PHF21B c.1510C>G p.P504A Substitution - Missense Soft_tissue COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Upper_aerodigestive_tract COSM1496165 BRD9 c.606C>T p.H202H Substitution - coding silent Kidney COSM403014 EYA1 c.1358G>A p.G453E Substitution - Missense Lung COSM417763 SMARCA4 c.2376C>T p.L792L Substitution - coding silent Urinary_tract COSM422745 PBRM1 c.172C>T p.R58* Substitution - Nonsense Kidney COSM440561 TRIM28 c.1128C>G p.L376L Substitution - coding silent Prostate COSM479983 KAT2B c.313T>C p.S105P Substitution - Missense Kidney COSM487504 UHRF2 c.176T>C p.F59S Substitution - Missense Kidney COSM1018631 HDAC4 c.1043C>T p.S348L Substitution - Missense Endometrium COSM724853 C20orf20 c.541C>T p.R181W Substitution - Missense Large_intestine COSM723726 ACTR5 c.1581G>A p.S527S Substitution - coding silent Lung COSM731050 PBRM1 c.552G>C p.E184D Substitution - Missense Lung COSM727026 EP300 c.5633C>A p.T1878N Substitution - Missense Lung COSM908388 PRDM16 c.3595C>T p.R1199C Substitution - Missense Endometrium COSM946202 RNF17 c.1297C>T p.R433W Substitution - Missense Skin COSM991721 MUM1 c.362G>A p.R121Q Substitution - Missense Endometrium COSM961214 BAHD1 c.1747C>T p.R583C Substitution - Missense Endometrium COSM970041 SETD1A c.1610G>T p.G537V Substitution - Missense Endometrium COSM1074205 SHPRH c.1717C>T p.R573C Substitution - Missense Large_intestine COSM1093551 TRRAP c.529C>G p.Q177E Substitution - Missense Endometrium COSM1085174 SND1 c.79-1G>T p.? Unknown Endometrium COSM1230319 TRIM33 c.1318C>T p.R440C Substitution - Missense Large_intestine COSM1184956 BRPF3 c.3325G>A p.V1109I Substitution - Missense Large_intestine COSM1183838 ASXL1 c.4022G>A p.S1341N Substitution - Missense Large_intestine COSM1195434 EZH1 c.859C>T p.R287W Substitution - Missense Lung COSM1180098 KMT2C c.1005T>A p.P335P Substitution - coding silent Soft_tissue COSM1168029 TET2 c.1782_1782delC p.N595fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1169699 TET2 c.1973_1973delA p.H658fs*42 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1186338 ATXN7 c.163C>T p.P55S Substitution - Missense Lung COSM1172549 SETBP1 c.4360C>T p.R1454C Substitution - Missense Oesophagus COSM1328854 PRDM9 c.478A>T p.T160S Substitution - Missense Ovary COSM1393331 DPF1 c.661G>A p.D221N Substitution - Missense Large_intestine COSM1378953 CTCF c.2064delA p.E691fs*30 Deletion - Frameshift Large_intestine COSM1416293 CBX6 c.433G>A p.G145R Substitution - Missense Large_intestine COSM1447013 MLL5 c.2736G>A p.T912T Substitution - coding silent Large_intestine COSM1341840 RBBP4 c.284C>T p.A95V Substitution - Missense Large_intestine COSM1341410 ARID1A c.4062delC p.S1356fs*125 Deletion - Frameshift Large_intestine COSM1586700 CHD4 c.5422T>C p.S1808P Substitution - Missense Endometrium COSM1624177 NCOA2 c.1624G>A p.E542K Substitution - Missense Liver COSM1581865 TRRAP c.1436C>T p.A479V Substitution - Missense Large_intestine COSM1580373 ATRX c.5956+2T>A p.? Unknown Central_nervous_system COSM1680371 MBD2 c.549T>G p.S183R Substitution - Missense Large_intestine COSM1640227 INOC1 c.685delA p.R229fs*45 Deletion - Frameshift Stomach COSM1682027 AIRE c.230T>A p.F77Y Substitution - Missense Large_intestine COSM1720390 SETD5_ENST00000402198 c.580G>A p.E194K Substitution - Missense Skin COSM1660199 TDRD6 c.2722G>T p.E908* Substitution - Nonsense Kidney COSM1665743 SETD2 c.1313delA p.K438fs*41 Deletion - Frameshift Kidney COSM1743873 NCOA6 c.5825C>G p.S1942C Substitution - Missense Biliary_tract COSM2848361 GABRG1 c.1381G>A p.G461S Substitution - Missense Lung COSM2848396 GABRG1 c.685G>A p.D229N Substitution - Missense Skin COSM2909133 HDAC4 c.2116G>A p.A706T Substitution - Missense Large_intestine COSM3013881 PRDM9 c.2524C>T p.R842C Substitution - Missense Oesophagus COSM3188365 KAT2A c.2458G>A p.A820T Substitution - Missense Large_intestine COSM3291685 CHD6 c.3843C>T p.A1281A Substitution - coding silent Skin COSM3357074 SMARCA4 c.3813C>T p.F1271F Substitution - coding silent Skin COSM3388569 SMARCA4 c.3922C>T p.R1308W Substitution - Missense Pancreas COSM3413594 TAF1L c.3238C>T p.R1080C Substitution - Missense Central_nervous_system COSM3396081 BAZ2A c.4687C>T p.R1563W Substitution - Missense Prostate COSM3499649 SETD3 c.1180G>A p.E394K Substitution - Missense Skin COSM3421092 CTCF c.1112G>A p.R371H Substitution - Missense Large_intestine COSM3415173 JMJD1C c.1337G>A p.S446N Substitution - Missense Large_intestine COSM3416558 KDM2B c.898G>A p.V300M Substitution - Missense Large_intestine COSM3455349 HCFC2 c.1759C>T p.P587S Substitution - Missense Skin COSM3584396 UTY c.1274T>A p.L425* Substitution - Nonsense Skin COSM3545313 DNMT3B c.2060G>A p.G687D Substitution - Missense Skin COSM3527176 L3MBTL4 c.383G>A p.W128* Substitution - Nonsense Skin COSM3669779 TRRAP c.4411C>T p.L1471L Substitution - coding silent Liver COSM3758251 MSH6 c.186C>A p.R62R Substitution - coding silent Large_intestine COSM3748880 L3MBTL3 c.1225G>A p.D409N Substitution - Missense Stomach COSM3767318 FXR1 c.13A>G p.T5A Substitution - Missense Liver COSM3795819 MBTD1 c.985C>T p.R329C Substitution - Missense Urinary_tract COSM3939407 PCNA c.629G>A p.R210K Substitution - Missense Oesophagus COSM3940105 TAF1 c.5505A>G p.E1835E Substitution - coding silent Oesophagus COSM3921596 BRPF3 c.3402C>T p.F1134F Substitution - coding silent Skin COSM3904546 SET c.500C>T p.T167M Substitution - Missense Stomach COSM3983273 NCOR1 c.6169-7T>G p.? Unknown Ovary COSM4042348 KMT2D c.12640C>T p.R4214* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4097808 NCOA6 c.2938C>T p.Q980* Substitution - Nonsense Stomach COSM4077880 SIRT2 c.397G>A p.A133T Substitution - Missense Stomach COSM4072852 L3MBTL4 c.1526C>T p.T509M Substitution - Missense Stomach COSM4129609 NCOR1 c.568C>T p.R190* Substitution - Nonsense Upper_aerodigestive_tract COSM4128898 CCDC101 c.867A>G p.E289E Substitution - coding silent Thyroid COSM4162014 KMT2C c.2534G>A p.G845E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4186919 BRWD1 c.646C>T p.H216Y Substitution - Missense Kidney COSM4512487 CBX8 c.904C>T p.P302S Substitution - Missense Skin COSM4590278 KDM2A c.310A>G p.S104G Substitution - Missense Upper_aerodigestive_tract COSM4524601 ERCC6 c.1281C>T p.F427F Substitution - coding silent Skin COSM4706976 NIPBL c.3121+1G>T p.? Unknown Large_intestine COSM4725133 SETBP1 c.3193T>C p.Y1065H Substitution - Missense Large_intestine COSM4689600 HCFC1 c.281A>G p.Y94C Substitution - Missense Large_intestine COSM4705947 NCOA3 c.593G>A p.R198H Substitution - Missense Large_intestine COSM4713999 PHF21A c.683G>A p.R228H Substitution - Missense Large_intestine COSM4677367 DHX30 c.332G>A p.R111Q Substitution - Missense Large_intestine COSM4702453 KMT2D c.169G>A p.D57N Substitution - Missense Large_intestine COSM4766169 TET2 c.3500G>A p.R1167K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4771957 BAZ2B c.4538C>A p.S1513* Substitution - Nonsense Stomach COSM4804661 DHX30 c.1717A>G p.I573V Substitution - Missense Liver COSM4788341 PHRF1 c.1203G>T p.R401S Substitution - Missense Liver COSM4923754 HDAC9 c.1583A>G p.N528S Substitution - Missense Liver COSM4911240 TTF2 c.3363A>G p.T1121T Substitution - coding silent Liver COSM4849041 RTF1 c.279G>C p.L93F Substitution - Missense Cervix COSM4853032 BRD8 c.1156C>G p.P386A Substitution - Missense Cervix COSM4950370 ARID2 c.5390_5391delTA p.L1797fs*6 Deletion - Frameshift Liver COSM4989126 KDM6B c.2281A>G p.T761A Substitution - Missense Soft_tissue COSM5047858 ARID2 c.3340C>A p.Q1114K Substitution - Missense Oesophagus COSM5160376 ATRX c.3786T>C p.D1262D Substitution - coding silent Large_intestine COSM5048097 KMT2D c.1075C>T p.R359C Substitution - Missense Oesophagus COSM5349808 KMT2D c.6959C>T p.S2320L Substitution - Missense Lung COSM5409829 NCOA2 c.60G>A p.K20K Substitution - coding silent Skin COSM5362004 CHD4 c.857C>T p.P286L Substitution - Missense Large_intestine COSM5380791 ZMYM1 c.3274C>T p.R1092C Substitution - Missense Skin COSM5360873 DPF2 c.1067G>A p.C356Y Substitution - Missense Large_intestine COSM5425831 ZBTB38 c.2425G>A p.A809T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5456039 KAT6B c.1153T>C p.S385P Substitution - Missense Large_intestine COSM5423562 TDRD3 c.1022delA p.N342fs*6 Deletion - Frameshift Prostate COSM5716075 PRDM10 c.254G>A p.G85D Substitution - Missense Skin COSM5609420 KMT2A c.1485G>A p.E495E Substitution - coding silent Skin COSM5599399 DMAP1 c.379G>A p.A127T Substitution - Missense Skin COSM5698684 HDAC6 c.3077G>T p.S1026I Substitution - Missense Soft_tissue COSM5670662 JHDM1D c.829delA p.S277fs*27 Deletion - Frameshift Soft_tissue COSM5668642 KDM1A c.1868G>T p.G623V Substitution - Missense Soft_tissue COSM5557367 HDAC6 c.1707C>T p.I569I Substitution - coding silent Prostate COSM5782059 ERCC6 c.3640G>A p.D1214N Substitution - Missense Breast COSM5878939 TET2 c.1123G>T p.E375* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5807586 SCML2 c.281G>C p.R94P Substitution - Missense Liver COSM5816716 TDRKH c.556G>T p.A186S Substitution - Missense Liver COSM5946915 HDAC4 c.866-5C>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5894690 CHD6 c.7589A>C p.Q2530P Substitution - Missense Skin COSM5900076 BAZ1B c.3163C>T p.L1055F Substitution - Missense Skin COSM5947885 HDAC3 c.791A>T p.D264V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6014932 KMT2D c.2292C>T p.S764S Substitution - coding silent Skin COSM52780 PBRM1 c.3611A>C p.H1204P Substitution - Missense Kidney COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM5945830 ARID2 c.?_?del? p.? Unknown Pleura COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1717437 PBRM1 c.? p.A938fs*10 Unknown Biliary_tract COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4972326 ASXL1 c.? p.L764fs*5 Frameshift Haematopoietic_and_lymphoid_tissue COSM230883 ASH1L c.4927C>T p.R1643W Substitution - Missense Skin COSM2007241 KMT2D c.3732G>T p.E1244D Substitution - Missense Large_intestine COSM1121686 PHF16 c.43G>A p.E15K Substitution - Missense Stomach COSM86082 KMT2C c.2418C>G p.S806S Substitution - coding silent Soft_tissue COSM4677533 DIDO1 c.469G>A p.D157N Substitution - Missense Large_intestine COSM1270465 WHSC1L1 c.1261C>T p.R421* Substitution - Nonsense Oesophagus COSM5639122 PHF14 c.82G>A p.D28N Substitution - Missense Oesophagus COSM680167 ARID1A c.6311C>T p.S2104F Substitution - Missense Stomach COSM75923 PHF21B c.266A>C p.D89A Substitution - Missense Ovary COSM5950420 SETBP1 c.3294C>G p.N1098K Substitution - Missense Prostate COSM122851 EP300 c.4195G>A p.D1399N Substitution - Missense Upper_aerodigestive_tract COSM4188120 NCOA1 c.1987A>G p.T663A Substitution - Missense Kidney COSM5352316 EP300 c.? p.R1599H Substitution - Missense Endometrium COSM2221766 TRIM66 c.3635G>T p.S1212I Substitution - Missense Large_intestine COSM1180772 ATF7IP c.1284_1285delCT p.S429fs*5 Deletion - Frameshift Large_intestine COSM4787974 PHF20 c.299G>A p.C100Y Substitution - Missense Liver COSM211713 TET2 c.3532G>T p.E1178* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4765817 DIDO1 c.2614_2615insA p.L874fs*6 Insertion - Frameshift Stomach COSM52822 PBRM1 c.165delT p.N55fs*40 Deletion - Frameshift Kidney COSM87011 DNMT3A c.2141C>G p.S714C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM933794 ACTR6 c.1012C>T p.R338* Substitution - Nonsense Endometrium COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM5805838 PRDM14 c.17C>A p.P6Q Substitution - Missense Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Biliary_tract COSM1639077 EP400 c.7026+10C>T p.? Unknown Stomach COSM3528421 SMARCA4 c.2005G>A p.E669K Substitution - Missense Skin COSM42030 TET2 c.3869C>G p.S1290* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM4963371 SP110 c.1403G>T p.C468F Substitution - Missense Pancreas COSM1722309 MYST3 c.5079A>C p.P1693P Substitution - coding silent Breast COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM4950105 GTF3C1 c.713A>T p.H238L Substitution - Missense Liver COSM1067070 PRDM9 c.752C>G p.S251* Substitution - Nonsense Endometrium COSM178780 CREBBP c.6451C>T p.R2151W Substitution - Missense Upper_aerodigestive_tract COSM199116 CHD1 c.3566G>A p.R1189Q Substitution - Missense Endometrium COSM1636550 KDM6A c.3172A>G p.K1058E Substitution - Missense Liver COSM4046679 RNF17 c.1639G>A p.A547T Substitution - Missense Stomach COSM306072 EZH2 c.2051G>A p.R684H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85916 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52868 PBRM1 c.2126_2127insA p.R710fs*13 Insertion - Frameshift Kidney COSM5972364 BPTF c.6946A>G p.T2316A Substitution - Missense Upper_aerodigestive_tract COSM96445 CREBBP c.4689G>C p.R1563S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM5005082 PRDM11 c.280C>T p.R94C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4603590 KMT2C c.2448_2449insA p.I817fs*11 Insertion - Frameshift Upper_aerodigestive_tract COSM1631318 MBD5 c.701A>G p.D234G Substitution - Missense Liver COSM87001 DNMT3A c.2644C>A p.R882S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4517884 NSD1 c.4532_4533CC>TT p.P1511L Substitution - Missense Skin COSM4647915 SRCAP c.3504C>T p.R1168R Substitution - coding silent Large_intestine COSM1084072 PHF14 c.2255T>C p.L752P Substitution - Missense Endometrium COSM674156 SMARCB1 c.629-?_1158+?del p.? Unknown Soft_tissue COSM5167788 CXXC1 c.1832A>G p.K611R Substitution - Missense Large_intestine COSM1308849 ACTL6A c.1117C>T p.P373S Substitution - Missense Urinary_tract COSM5034000 CREBBP c.5838A>C p.P1946P Substitution - coding silent Skin COSM3578874 SP140_ENST00000392045 c.203G>A p.R68Q Substitution - Missense Skin COSM5412704 PHF16 c.849C>T p.I283I Substitution - coding silent Skin COSM1604859 PHRF1 c.4414-8C>T p.? Unknown Liver COSM4877365 DOT1L c.4337C>T p.P1446L Substitution - Missense Prostate COSM1099542 ASH2L c.1702C>A p.L568M Substitution - Missense Endometrium COSM268881 CHD3 c.1207C>A p.L403I Substitution - Missense Large_intestine COSM703550 BRD7 c.1381G>C p.D461H Substitution - Missense Lung COSM5699862 EYA2 c.313G>C p.D105H Substitution - Missense Soft_tissue COSM1583143 DNMT3A c.2153C>G p.P718R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1726485 KDM5A c.3254G>A p.S1085N Substitution - Missense Liver COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM703253 SRCAP c.7282C>T p.R2428C Substitution - Missense Lung COSM6002025 CHD9 c.8001T>A p.G2667G Substitution - coding silent Prostate COSM3737952 KMT2C c.12343G>A p.V4115I Substitution - Missense Soft_tissue COSM223758 TP53BP1 c.3586G>A p.V1196I Substitution - Missense Skin COSM3360867 ZMYM1 c.918T>C p.N306N Substitution - coding silent Kidney COSM4680239 EED c.137G>C p.S46T Substitution - Missense Large_intestine COSM1683052 KDM5D c.2905C>T p.R969C Substitution - Missense Skin COSM5557106 ADNP c.861C>T p.I287I Substitution - coding silent Prostate COSM3774230 BAG6 c.1855T>C p.S619P Substitution - Missense Soft_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM21288 BRD3 c.71delC p.P24fs*24 Deletion - Frameshift Stomach COSM3832370 KMT2C c.3652C>T p.Q1218* Substitution - Nonsense Breast COSM742364 RING1 c.899C>G p.A300G Substitution - Missense Lung COSM5680743 EP300 c.4319C>G p.P1440R Substitution - Missense Soft_tissue COSM88090 KMT2D c.15691C>T p.R5231* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4475903 SRCAP c.2023C>T p.P675S Substitution - Missense Skin COSM319394 CDYL c.143T>C p.V48A Substitution - Missense Lung COSM1411129 DNMT3B c.1727G>A p.R576Q Substitution - Missense Large_intestine COSM3633862 TRIM24 c.2382G>A p.Q794Q Substitution - coding silent Skin COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5767608 SRCAP c.3316C>T p.L1106L Substitution - coding silent Breast COSM4386850 SMARCC2 c.510T>A p.D170E Substitution - Missense Lung COSM1038798 HDAC11 c.233G>A p.R78H Substitution - Missense Pancreas COSM4979467 BPTF c.1045G>C p.A349P Substitution - Missense Oesophagus COSM223757 TP53BP1 c.5771C>T p.P1924L Substitution - Missense Skin COSM212646 SETBP1 c.2591C>T p.T864M Substitution - Missense Breast COSM5650774 BAZ2B c.5680C>T p.P1894S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3563525 ATRX c.1357G>A p.E453K Substitution - Missense Skin COSM1107427 PSIP1 c.208A>C p.K70Q Substitution - Missense Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM36166 ASXL1 c.1772_1773insA p.Y591fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4137243 BRWD1 c.4757C>G p.P1586R Substitution - Missense Ovary COSM1310786 HDAC3 c.567G>A p.T189T Substitution - coding silent Urinary_tract COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3991753 NCOA3 c.257G>T p.G86V Substitution - Missense Kidney COSM3404205 SIRT2 c.705T>G p.F235L Substitution - Missense Central_nervous_system COSM4931254 PRDM15 c.826A>C p.M276L Substitution - Missense Liver COSM4955859 TAF1L c.695C>A p.A232D Substitution - Missense Liver COSM5821739 HDAC11 c.40A>T p.T14S Substitution - Missense Liver COSM1672938 ARID1B c.4816C>T p.R1606* Substitution - Nonsense Large_intestine COSM1190876 SETDB2 c.182delT p.I61fs*8 Deletion - Frameshift Lung COSM3843404 ZBTB33 c.1673C>A p.S558Y Substitution - Missense Breast COSM4912624 PRDM2 c.4338G>A p.L1446L Substitution - coding silent Liver COSM3488873 ZMYM1 c.2327A>G p.N776S Substitution - Missense Skin COSM1266218 SMARCA2 c.669G>A p.Q223Q Substitution - coding silent Stomach COSM581822 ZBTB38 c.2709C>T p.F903F Substitution - coding silent Skin COSM453642 TRRAP c.3569T>A p.V1190D Substitution - Missense Breast COSM4648094 CBX8 c.874C>A p.L292M Substitution - Missense Large_intestine COSM456012 KIAA2026_ENST00000399933 c.5669T>A p.I1890N Substitution - Missense Breast COSM258925 ARID2 c.1349delT p.S451fs*12 Deletion - Frameshift Large_intestine COSM4054559 MGA c.3211T>C p.C1071R Substitution - Missense Stomach COSM1166667 TET2 c.4639C>T p.Q1547* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1061337 KDM3B c.2080A>G p.I694V Substitution - Missense Endometrium COSM1266317 SMYD1 c.480G>A p.P160P Substitution - coding silent Stomach COSM4410607 SETD2 c.3457_3458insGAAG p.V1153fs*11 Insertion - Frameshift Kidney COSM285940 TRIM33 c.2593C>T p.R865* Substitution - Nonsense Large_intestine COSM232857 NCOA6 c.2905C>T p.R969W Substitution - Missense Skin COSM4790562 JMJD1C c.5162A>G p.N1721S Substitution - Missense Liver COSM1703072 TDRD1 c.2077C>A p.P693T Substitution - Missense Skin COSM3922783 TIF1 c.1251C>T p.I417I Substitution - coding silent Skin COSM4728444 SMCHD1 c.3040G>A p.V1014M Substitution - Missense Large_intestine COSM34192 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM4832424 JARID2 c.380C>T p.T127I Substitution - Missense Cervix COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5477104 TDRD1 c.529+10T>G p.? Unknown Large_intestine COSM1262072 PHF7 c.850G>T p.D284Y Substitution - Missense Oesophagus COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5020669 TRIM24 c.2266C>T p.P756S Substitution - Missense Skin COSM1201026 CHD9 c.941A>G p.H314R Substitution - Missense Large_intestine COSM303135 RTF1 c.1358C>A p.A453D Substitution - Missense Central_nervous_system COSM219544 EP300 c.2957A>T p.Q986L Substitution - Missense Breast COSM4045329 PHC1 c.2404T>C p.Y802H Substitution - Missense Stomach COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5730833 SETD2 c.3124C>T p.Q1042* Substitution - Nonsense Breast COSM1714436 TCF20 c.2615C>T p.P872L Substitution - Missense Skin COSM1737880 DNMT3A c.2506_2506delA p.R836fs*5 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3446223 PRMT3 c.738C>T p.F246F Substitution - coding silent Skin COSM5598673 PRDM16 c.2025C>T p.F675F Substitution - coding silent Skin COSM4434525 EPC2 c.1227T>C p.Y409Y Substitution - coding silent Oesophagus COSM1752895 MBD4 c.1087G>C p.E363Q Substitution - Missense Biliary_tract COSM1390240 SMARCA4 c.322delC p.P109fs*194 Deletion - Frameshift Large_intestine COSM1475261 PRDM10 c.200C>T p.T67M Substitution - Missense Breast COSM1315588 SMC1A c.1069G>A p.E357K Substitution - Missense Urinary_tract COSM3775859 GABRG1 c.671C>T p.S224F Substitution - Missense Urinary_tract COSM438690 MUM1 c.1587C>G p.V529V Substitution - coding silent Thyroid COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4751600 ARID1A c.2834G>A p.G945E Substitution - Missense Stomach COSM4454394 EP400 c.4784A>T p.Q1595L Substitution - Missense Skin COSM3420946 SETD1A c.2835C>T p.D945D Substitution - coding silent Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3789891 RBBP4 c.717T>C p.H239H Substitution - coding silent Urinary_tract COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4385735 EP300 c.1806_1807insA p.R603fs*14 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3991376 SMEK2 c.12G>A p.T4T Substitution - coding silent Kidney COSM1387294 BAHCC1 c.5410C>T p.R1804W Substitution - Missense Large_intestine COSM5731904 ARID1A c.2538delC p.I847fs*12 Deletion - Frameshift Pancreas COSM488225 SCML2 c.6A>G p.G2G Substitution - coding silent Kidney COSM4101591 BRWD1 c.4322G>A p.R1441Q Substitution - Missense Stomach COSM5356593 PRDM9 c.933C>T p.S311S Substitution - coding silent Large_intestine COSM255050 ARID1A c.5606delG p.P1870fs*13 Deletion - Frameshift Urinary_tract COSM2151062 JHDM1D c.2813G>A p.R938H Substitution - Missense Central_nervous_system COSM1602138 ARID1A c.1010delG p.A339fs*24 Deletion - Frameshift Liver COSM5390449 KDM4B c.1840C>T p.P614S Substitution - Missense Skin COSM1443801 PHF1 c.100G>A p.G34S Substitution - Missense Large_intestine COSM1179669 KMT2C c.943G>A p.G315S Substitution - Missense Soft_tissue COSM1339918 ACTA1 c.331C>A p.P111T Substitution - Missense Large_intestine COSM945772 MPHOSPH8 c.2149G>A p.D717N Substitution - Missense Endometrium COSM98328 KAT2A c.2281G>A p.E761K Substitution - Missense Upper_aerodigestive_tract COSM3787897 ATF2 c.217A>G p.T73A Substitution - Missense Pancreas COSM5479540 BPTF c.4444G>A p.E1482K Substitution - Missense Large_intestine COSM1583088 DNMT3A c.1904G>A p.R635Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1568123 HDAC2 c.348C>T p.G116G Substitution - coding silent Large_intestine COSM970544 CREBBP c.6424C>A p.L2142M Substitution - Missense Endometrium COSM1087586 KMT2C c.6376A>T p.T2126S Substitution - Missense Endometrium COSM255139 MEN1 c.? p.P277R Substitution - Missense Parathyroid COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Bone COSM306089 SUZ12 c.1105_1106insA p.S369fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5036989 AIRE c.1235C>T p.S412L Substitution - Missense Oesophagus COSM1582021 ARID1A c.6527_6528delAG p.Q2176fs*48 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4329187 PRDM5 c.1036C>T p.R346* Substitution - Nonsense Large_intestine COSM3578963 SP100 c.1155C>T p.F385F Substitution - coding silent Skin COSM5031287 HCFC1 c.1589C>T p.T530M Substitution - Missense Pancreas COSM4488201 MSH6 c.3290C>T p.P1097L Substitution - Missense Skin COSM1714502 BRD1 c.2423C>T p.S808F Substitution - Missense Skin COSM753632 TAF1L c.2029G>C p.G677R Substitution - Missense Lung COSM4447677 BAHCC1 c.1929C>T p.A643A Substitution - coding silent Skin COSM3089748 EHMT1 c.3540C>T p.R1180R Substitution - coding silent Large_intestine COSM4383831 TET2 c.2068C>T p.Q690* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4950506 ATXN7 c.787C>A p.P263T Substitution - Missense Liver COSM364036 TDRD6 c.1215G>T p.V405V Substitution - coding silent Lung COSM5944288 TET2 c.3708delC p.P1237fs*16 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4751231 PRDM9 c.1673G>A p.G558E Substitution - Missense Stomach COSM4963938 CHD2 c.891C>A p.D297E Substitution - Missense Pancreas COSM3631656 MLL5 c.3246C>T p.S1082S Substitution - coding silent Skin COSM690313 SUV420H1 c.2551C>T p.P851S Substitution - Missense Lung COSM5033630 CBX7 c.149A>C p.D50A Substitution - Missense Skin COSM445041 EP300 c.2299C>T p.Q767* Substitution - Nonsense Breast COSM3867724 SFMBT2 c.1287C>T p.S429S Substitution - coding silent Skin COSM6000396 KDM5A c.2295A>G p.V765V Substitution - coding silent Prostate COSM3972662 DIDO1 c.2013G>A p.R671R Substitution - coding silent Central_nervous_system COSM6000766 BAZ2A_ENST00000379441 c.5350C>A p.P1784T Substitution - Missense Prostate COSM4111138 ATRX c.4094A>C p.E1365A Substitution - Missense Stomach COSM684716 JMJD1C c.139G>A p.A47T Substitution - Missense Lung COSM5050209 ERCC6 c.1726A>G p.T576A Substitution - Missense Stomach COSM3826774 PHF15 c.850G>C p.E284Q Substitution - Missense Breast COSM266551 FMR1 c.1292G>A p.R431H Substitution - Missense Endometrium COSM4418709 NSD1 c.2176T>C p.S726P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4164462 ING5 c.104C>T p.T35M Substitution - Missense Kidney COSM972486 CTCF c.1094A>C p.K365T Substitution - Missense Endometrium COSM3830258 DAXX c.2185G>A p.D729N Substitution - Missense Breast COSM3971228 TFPT c.467C>T p.A156V Substitution - Missense Central_nervous_system COSM5429106 ATAD2 c.878G>A p.R293Q Substitution - Missense Oesophagus COSM4066859 HDAC5 c.899T>C p.I300T Substitution - Missense Stomach COSM1663669 PRDM13 c.266C>T p.P89L Substitution - Missense Kidney COSM3816032 MGA c.6028C>T p.Q2010* Substitution - Nonsense Breast COSM1636136 SMARCA2 c.3445A>G p.N1149D Substitution - Missense Liver COSM144218 ATRX c.4179_4182delTAGT p.S1394fs*95 Deletion - Frameshift Central_nervous_system COSM1454656 ATAD2 c.825T>A p.D275E Substitution - Missense Stomach COSM4383959 TET2 c.4825T>A p.L1609M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1195707 RBBP5 c.1493C>T p.P498L Substitution - Missense Lung COSM3435837 PWWP2B c.942C>T p.P314P Substitution - coding silent Skin COSM88793 EP300 c.4617+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5997509 TRRAP c.9353A>G p.Q3118R Substitution - Missense Prostate COSM5002310 ACTB c.63C>G p.F21L Substitution - Missense Pancreas COSM1334660 ASH1L c.3665delA p.K1222fs*11 Deletion - Frameshift Large_intestine COSM4049859 CHD8 c.1520C>T p.A507V Substitution - Missense Stomach COSM3494926 CHD8 c.4062+1G>A p.? Unknown Skin COSM1215634 MTA1 c.212C>T p.A71V Substitution - Missense Large_intestine COSM1301091 INOC1 c.4523C>T p.S1508L Substitution - Missense Urinary_tract COSM5754842 SRCAP c.7723T>A p.S2575T Substitution - Missense Large_intestine COSM4431429 TDRKH c.1415A>G p.Y472C Substitution - Missense Oesophagus COSM1630252 MYST2 c.1414G>T p.V472F Substitution - Missense Liver COSM4529938 MECOM c.1091G>A p.G364E Substitution - Missense Skin COSM4791438 MYST3 c.4007C>T p.P1336L Substitution - Missense Liver COSM4424219 ASXL1 c.1279A>T p.K427* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM2777469 KIAA2026_ENST00000399933 c.5695G>A p.V1899I Substitution - Missense Large_intestine COSM4841738 WHSC1 c.916G>A p.E306K Substitution - Missense Cervix COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM228110 KMT2C c.1042G>A p.D348N Substitution - Missense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5944135 TET2 c.3533A>G p.E1178G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1287634 RING1 c.1166G>A p.W389* Substitution - Nonsense Autonomic_ganglia COSM1299353 KDM5A c.3493A>G p.I1165V Substitution - Missense Urinary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5947530 CHD7 c.550C>T p.Q184* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM129637 TCF20 c.710C>G p.S237C Substitution - Missense Upper_aerodigestive_tract COSM4972474 EYA4 c.474A>C p.Q158H Substitution - Missense Oesophagus COSM4849598 HNF1A c.1866C>T p.I622I Substitution - coding silent Cervix COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM472343 NCOR1 c.6211C>A p.Q2071K Substitution - Missense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4031013 ARID1A c.3793G>A p.G1265S Substitution - Missense Liver COSM5604582 PRDM16 c.3297G>A p.Q1099Q Substitution - coding silent Skin COSM4015933 KAT6B c.5809G>A p.A1937T Substitution - Missense Stomach COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96429 EP300 c.4025+(28)del3 p.? Unknown Breast COSM376559 SIRT3 c.978T>G p.P326P Substitution - coding silent Lung COSM3707005 SRCAP c.598A>G p.K200E Substitution - Missense Liver COSM5549994 BRWD3 c.1450G>A p.A484T Substitution - Missense Prostate COSM1122187 HDAC6 c.1194G>A p.S398S Substitution - coding silent Endometrium COSM4167270 TET2 c.? p.K1339R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5362372 MTA1 c.1777+9delC p.? Unknown Large_intestine COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM5923846 KIAA1045 c.548G>A p.W183* Substitution - Nonsense Skin COSM1194796 TDRD3 c.743G>A p.G248E Substitution - Missense Lung COSM3777995 MLL5 c.4540A>C p.T1514P Substitution - Missense Urinary_tract COSM5879021 TET2 c.3763_3764insG p.Y1255fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5047193 KMT2C c.3745G>C p.E1249Q Substitution - Missense Oesophagus COSM4928776 HNF1A c.761T>A p.L254Q Substitution - Missense Liver COSM3740138 CHD6 c.295A>G p.K99E Substitution - Missense Liver COSM3440913 TAF3 c.2381C>T p.T794I Substitution - Missense Skin COSM24595 SMARCB1 c.157C>T p.R53* Substitution - Nonsense Soft_tissue COSM2965370 KDM6A c.2040C>T p.N680N Substitution - coding silent Upper_aerodigestive_tract COSM173127 SMARCA2 c.2530C>T p.R844W Substitution - Missense Large_intestine COSM1583068 DNMT3A c.1481G>A p.C494Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3505527 CHD2 c.1827T>C p.I609I Substitution - coding silent Skin COSM1098855 ELP3 c.1348C>A p.L450I Substitution - Missense Endometrium COSM53032 EZH2 c.1991A>T p.D664V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6006428 SMARCB1 c.1-?_93+?del5006 p.? Unknown Central_nervous_system COSM4532884 HDAC7 c.1812G>A p.L604L Substitution - coding silent Skin COSM4772737 ACTL6A c.491G>T p.R164L Substitution - Missense Stomach COSM4613460 CBX2 c.1307delC p.S438fs*21 Deletion - Frameshift Large_intestine COSM5750466 PBRM1 c.2380G>T p.D794Y Substitution - Missense Stomach COSM5748877 BAZ2B c.1291C>T p.R431W Substitution - Missense Pancreas COSM1627209 RERE c.1810G>A p.E604K Substitution - Missense Liver COSM5809794 MSH6 c.871A>G p.N291D Substitution - Missense Liver COSM979606 EZH1 c.426A>T p.E142D Substitution - Missense Endometrium COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM83884 ARID1A c.3826C>T p.R1276* Substitution - Nonsense Large_intestine COSM85830 MEN1 c.674G>T p.G225V Substitution - Missense Pancreas COSM87212 KMT2C c.5587C>G p.P1863A Substitution - Missense Pancreas COSM88745 CREBBP c.4508A>T p.Y1503F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM132898 TET2 c.5038C>T p.Q1680* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM131228 KDM4B c.254A>G p.Q85R Substitution - Missense Liver COSM144223 ATRX c.4276C>T p.R1426* Substitution - Nonsense Central_nervous_system COSM158750 EED c.587T>A p.L196Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM148423 SETBP1 c.3301G>A p.V1101I Substitution - Missense Stomach COSM149732 PRDM5 c.1234T>C p.L412L Substitution - coding silent Large_intestine COSM166405 CREBBP c.4232G>A p.G1411E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM162685 MUM1 c.76G>A p.A26T Substitution - Missense Endometrium COSM177194 SETD2 c.40G>T p.E14* Substitution - Nonsense Endometrium COSM215752 SMARCA4 c.3694G>A p.G1232S Substitution - Missense Pancreas COSM245670 MGA c.8831A>G p.D2944G Substitution - Missense Prostate COSM41850 TET2 c.1630C>T p.R544* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM263788 AP001011.3_ENST00000320876 c.5602C>T p.R1868* Substitution - Nonsense Endometrium COSM277249 SFMBT2 c.2643C>T p.I881I Substitution - coding silent Large_intestine COSM274122 BAZ2A_ENST00000379441 c.3227T>C p.V1076A Substitution - Missense Large_intestine COSM301717 ATAD2 c.2764C>A p.Q922K Substitution - Missense Central_nervous_system COSM311821 HNF1A c.1708C>A p.Q570K Substitution - Missense Soft_tissue COSM312105 KDM5A c.3693A>G p.V1231V Substitution - coding silent Lung COSM317903 PRDM9 c.2515C>A p.R839R Substitution - coding silent Lung COSM343981 PRMT3 c.1414G>T p.G472C Substitution - Missense Lung COSM349751 PRDM2 c.5082G>T p.P1694P Substitution - coding silent Lung COSM424064 ASH1L c.1475A>C p.K492T Substitution - Missense Breast COSM415320 KMT2A c.8515G>A p.D2839N Substitution - Missense Urinary_tract COSM451577 TDRD6 c.1250A>G p.H417R Substitution - Missense Breast COSM466668 PRMT3 c.1299A>C p.E433D Substitution - Missense Kidney COSM976055 SMYD4 c.957C>T p.S319S Substitution - coding silent Endometrium COSM976116 RAI1 c.500G>A p.R167Q Substitution - Missense Endometrium COSM977545 SUZ12 c.480G>A p.T160T Substitution - coding silent Endometrium COSM983342 BPTF c.6702T>C p.G2234G Substitution - coding silent Endometrium COSM984759 JMJD6 c.518G>T p.R173M Substitution - Missense Endometrium COSM480644 BRPF1 c.2430C>G p.G810G Substitution - coding silent Kidney COSM941785 BAZ2A c.1474G>A p.A492T Substitution - Missense Liver COSM1026317 PHF20 c.2798G>A p.S933N Substitution - Missense Endometrium COSM939488 ARID2 c.65A>G p.E22G Substitution - Missense Endometrium COSM743363 PHF3 c.2227C>T p.H743Y Substitution - Missense Urinary_tract COSM1692704 SETD2 c.3976C>T p.Q1326* Substitution - Nonsense Kidney COSM732824 PRDM5 c.436G>A p.V146I Substitution - Missense Lung COSM725095 PRDM15 c.2591G>T p.R864L Substitution - Missense Lung COSM907726 ARID1A c.4336C>T p.R1446* Substitution - Nonsense Endometrium COSM912606 RERE c.1177G>A p.E393K Substitution - Missense Endometrium COSM1069066 C5orf35 c.354G>T p.K118N Substitution - Missense Endometrium COSM1073634 SIRT5 c.130C>T p.R44* Substitution - Nonsense Skin COSM1078036 PHF1 c.331C>T p.R111C Substitution - Missense Large_intestine COSM1108245 TAF1L c.1673G>A p.R558Q Substitution - Missense Endometrium COSM1099536 ASH2L c.768T>G p.L256L Substitution - coding silent Endometrium COSM1197322 PRMT2 c.29G>T p.S10I Substitution - Missense Lung COSM1211731 KDM4A c.1873A>G p.T625A Substitution - Missense Stomach COSM1324135 RAI1 c.840G>A p.Q280Q Substitution - coding silent Ovary COSM1427200 SETD7 c.460G>A p.A154T Substitution - Missense Large_intestine COSM1446061 PHIP c.329G>A p.R110H Substitution - Missense Large_intestine COSM1444086 BRPF3 c.3104G>T p.R1035L Substitution - Missense Large_intestine COSM1446612 ACTL6B c.249G>A p.S83S Substitution - coding silent Large_intestine COSM1468072 KDM6A c.3836G>A p.R1279Q Substitution - Missense Upper_aerodigestive_tract COSM1469486 ATRX c.2209A>G p.I737V Substitution - Missense Large_intestine COSM1625592 FMR1 c.1603G>T p.G535* Substitution - Nonsense Liver COSM1583066 DNMT3A c.1534G>A p.G512R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1708999 JMJD5 c.10G>A p.D4N Substitution - Missense Skin COSM1662784 KMT2D c.5216A>G p.D1739G Substitution - Missense Kidney COSM1665675 PBRM1 c.1281delC p.I428fs*10 Deletion - Frameshift Kidney COSM1747322 ACTR6 c.957G>C p.L319F Substitution - Missense Urinary_tract COSM1970745 HELLS c.2250T>C p.N750N Substitution - coding silent Skin COSM2068785 HDAC7 c.1296G>A p.G432G Substitution - coding silent Large_intestine COSM2153367 AICDA c.232G>A p.V78I Substitution - Missense Central_nervous_system COSM2269454 BAHD1 c.352C>T p.R118C Substitution - Missense Large_intestine COSM2828844 SETD5_ENST00000402198 c.3190A>G p.K1064E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2909194 ATAD2B_ENST00000238789 c.2620T>C p.Y874H Substitution - Missense Large_intestine COSM3096916 ATRX c.7421G>A p.R2474H Substitution - Missense Large_intestine COSM3259620 EZH2 c.2202C>T p.S734S Substitution - coding silent Large_intestine COSM3341117 NSD1 c.3380T>G p.L1127R Substitution - Missense Central_nervous_system COSM3375004 TDRD7 c.1564G>A p.V522I Substitution - Missense Thyroid COSM3467855 RNF17 c.125C>T p.S42L Substitution - Missense Skin COSM3457523 SETD8 c.996C>T p.L332L Substitution - coding silent Skin COSM3637081 HDAC9 c.2657G>A p.G886E Substitution - Missense Skin COSM3623129 KDM1B c.734C>T p.P245L Substitution - Missense Skin COSM3615223 PRDM9 c.2454C>T p.H818H Substitution - coding silent Skin COSM3650731 EYA1 c.614C>T p.S205F Substitution - Missense Skin COSM3704869 TTF2 c.8A>T p.E3V Substitution - Missense Liver COSM3707810 EYA2 c.832A>T p.T278S Substitution - Missense Liver COSM3707019 MYST1 c.681+1G>A p.? Unknown Liver COSM3728604 STK31 c.2157T>C p.G719G Substitution - coding silent Stomach COSM3749370 SETD6 c.193T>C p.L65L Substitution - coding silent Thyroid COSM3752792 TRIM66 c.1397A>G p.H466R Substitution - Missense Upper_aerodigestive_tract COSM3809005 SIRT3 c.785C>T p.P262L Substitution - Missense Breast COSM3937747 SETBP1 c.3311C>A p.S1104Y Substitution - Missense Oesophagus COSM3821463 SETBP1 c.1648A>C p.T550P Substitution - Missense Breast COSM3925753 TDRD7 c.2001C>T p.L667L Substitution - coding silent Liver COSM3905422 BRD3 c.1239C>G p.A413A Substitution - coding silent Stomach COSM3877921 SND1 c.2584A>G p.M862V Substitution - Missense Stomach COSM3872664 AICDA c.252G>A p.W84* Substitution - Nonsense Skin COSM3972660 DIDO1 c.5347G>A p.E1783K Substitution - Missense Central_nervous_system COSM4011750 TDRD1 c.2750T>C p.V917A Substitution - Missense Stomach COSM4120731 BRPF1 c.1068G>A p.W356* Substitution - Nonsense Stomach COSM4060217 SRCAP c.9324A>G p.P3108P Substitution - coding silent Stomach COSM4163049 PRDM14 c.1629T>C p.D543D Substitution - coding silent Thyroid COSM4385596 TET2 c.3119_3120insA p.F1041fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4390332 ASXL1 c.3184C>T p.P1062S Substitution - Missense Urinary_tract COSM4565887 CBX6 c.267_268CC>TT p.L90F Substitution - Missense Skin COSM4527228 PRDM16 c.1449G>A p.L483L Substitution - coding silent Skin COSM4568915 KAT2B c.1403T>A p.L468H Substitution - Missense Skin COSM4433139 TIF1 c.2428T>C p.C810R Substitution - Missense Oesophagus COSM4462538 EZH2 c.1250C>T p.S417F Substitution - Missense Skin COSM4478317 SFMBT2 c.222C>T p.F74F Substitution - coding silent Skin COSM4461497 PRDM1 c.1101C>T p.I367I Substitution - coding silent Skin COSM4702536 MLL5 c.4831C>T p.P1611S Substitution - Missense Large_intestine COSM4728324 SMARCC1 c.1689delC p.S564fs*20 Deletion - Frameshift Large_intestine COSM4660682 AIRE c.1330C>T p.L444L Substitution - coding silent Large_intestine COSM4630360 CBX2 c.1519G>A p.D507N Substitution - Missense Large_intestine COSM4749434 ZBTB4 c.2984C>G p.P995R Substitution - Missense Stomach COSM4883936 TRRAP c.5440C>A p.L1814M Substitution - Missense Upper_aerodigestive_tract COSM4915559 BRD4 c.602A>C p.Q201P Substitution - Missense Liver COSM4928385 TP53BP1 c.1682C>G p.P561R Substitution - Missense Liver COSM4838323 ATRX c.5288A>T p.N1763I Substitution - Missense Cervix COSM4965718 BTAF1 c.5270G>C p.R1757T Substitution - Missense Pancreas COSM4958434 SRCAP c.2409C>A p.F803L Substitution - Missense Liver COSM5006083 NIPBL c.8327_8328insA p.A2777fs*6 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4986331 SETD8 c.47C>A p.A16E Substitution - Missense Soft_tissue COSM5030941 KDM6A c.3487G>A p.D1163N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5040463 SETBP1 c.3112T>A p.F1038I Substitution - Missense Liver COSM5387628 BAHCC1 c.1704C>T p.S568S Substitution - coding silent Skin COSM5396449 SP140_ENST00000392045 c.282G>A p.V94V Substitution - coding silent Skin COSM5376474 MPHOSPH8 c.275C>T p.P92L Substitution - Missense Skin COSM5499256 MYST1 c.703delC p.E239fs*50 Deletion - Frameshift Biliary_tract COSM5433293 PHF3 c.1964T>G p.F655C Substitution - Missense Oesophagus COSM5635340 SETD1A c.4954A>G p.N1652D Substitution - Missense Oesophagus COSM5762192 BAP1 c.1569C>T p.V523V Substitution - coding silent Pancreas COSM5731099 ASXL1 c.4269G>A p.E1423E Substitution - coding silent Breast COSM5746762 TRRAP c.11182C>T p.R3728W Substitution - Missense Pancreas COSM5736634 BAP1 c.1133C>T p.A378V Substitution - Missense Small_intestine COSM5599045 AIRE c.623G>A p.G208E Substitution - Missense Skin COSM5606345 BAZ1A c.343C>T p.R115* Substitution - Nonsense Skin COSM5752237 KMT2C c.8797_8812del16 p.R2933fs*21 Deletion - Frameshift Breast COSM5549257 SND1 c.742G>T p.A248S Substitution - Missense Prostate COSM5558019 CBX6 c.1148A>G p.K383R Substitution - Missense Prostate COSM5782185 TRIM66 c.189G>T p.L63F Substitution - Missense Breast COSM5780600 RBBP5 c.413C>G p.S138* Substitution - Nonsense Breast COSM5907427 PHF3 c.5584C>T p.P1862S Substitution - Missense Skin COSM5887406 KMT2D c.6241G>A p.E2081K Substitution - Missense Skin COSM5899372 PRDM16 c.679G>A p.E227K Substitution - Missense Skin COSM5963021 TAF3 c.17C>G p.S6C Substitution - Missense Breast COSM5989983 TET2 c.5671A>G p.R1891G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6013685 WDR5 c.833C>T p.S278L Substitution - Missense Skin COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Breast COSM303909 IKZF1 c.?_?del? p.?fs Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5352294 EP300 c.? p.R353C Substitution - Missense Endometrium COSM86972 IKZF1 c.1-?_421+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5753354 PBRM1 c.? p.P703L Substitution - Missense Kidney COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM36248 IDH1 c.? p.R132? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4590343 SETBP1 c.3806A>G p.D1269G Substitution - Missense Upper_aerodigestive_tract COSM3356327 KMT2D c.1570G>T p.E524* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM709410 MBD1 c.1614G>A p.K538K Substitution - coding silent Lung COSM4760351 HDAC2 c.512T>A p.V171D Substitution - Missense Stomach COSM1078479 BRPF3 c.116G>A p.R39Q Substitution - Missense Endometrium COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM4681146 EP400 c.8452C>T p.P2818S Substitution - Missense Large_intestine COSM4383934 TET2 c.4045-2A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3361407 TP53BP1 c.4019A>G p.K1340R Substitution - Missense Kidney COSM731362 MINA c.627C>G p.Y209* Substitution - Nonsense Lung COSM3855035 NIPBL c.5314A>T p.I1772F Substitution - Missense Stomach COSM4826473 KMT2D c.10083C>G p.L3361L Substitution - coding silent Cervix COSM5829044 NCOA3 c.3787_3792delCAGCAA p.Q1275_Q1276delQQ Deletion - In frame Large_intestine COSM1045644 SMARCC1 c.2840_2881del42 p.L947_Q960del14 Deletion - In frame Endometrium COSM1034762 TCF20 c.3518A>C p.K1173T Substitution - Missense Endometrium COSM5572880 ZCWPW2 c.278A>T p.Y93F Substitution - Missense Prostate COSM4440706 TBL1XR1 c.637C>A p.H213N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4945157 BTAF1 c.340C>A p.H114N Substitution - Missense Liver COSM5082213 ATRX c.2312C>T p.A771V Substitution - Missense Large_intestine COSM731053 PBRM1 c.676G>C p.E226Q Substitution - Missense Lung COSM1235380 BAP1 c.662_662delA p.E221fs*10 Deletion - Frameshift Eye COSM5896458 EP300 c.3781C>T p.H1261Y Substitution - Missense Skin COSM1180068 BRPF1 c.2183G>A p.R728H Substitution - Missense Prostate COSM5010047 KMT2C c.9532A>G p.K3178E Substitution - Missense Large_intestine COSM97079 TET2 c.? p.E350K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3686865 KAT6B c.2612G>A p.R871Q Substitution - Missense Large_intestine COSM4937245 PRMT10 c.2199+1G>A p.? Unknown Liver COSM5547266 BAZ1A c.1137_1138delGA p.K380fs*3 Deletion - Frameshift Prostate COSM5723153 DIDO1 c.6713C>T p.S2238L Substitution - Missense Skin COSM3562418 PHF8 c.3039C>T p.I1013I Substitution - coding silent Skin COSM1716565 BAP1 c.719_723delAGTAT p.K240fs*42 Deletion - Frameshift Pleura COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5412745 SUV39H1 c.775C>A p.R259S Substitution - Missense Skin COSM43520 TET2 c.1378_1378delT p.S460fs*26 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4623770 RERE c.2211G>T p.Q737H Substitution - Missense Large_intestine COSM5435547 PCGF1 c.492G>C p.L164L Substitution - coding silent Oesophagus COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Biliary_tract COSM147594 TDG c.167-9G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3733523 NCOR1 c.14G>T p.G5V Substitution - Missense Urinary_tract COSM3460968 ARID2 c.2158C>T p.Q720* Substitution - Nonsense Skin COSM1066209 NSD1 c.1492C>T p.R498* Substitution - Nonsense Endometrium COSM1638697 HELLS c.2249-10delT p.? Unknown Stomach COSM4603590 KMT2C c.2448_2449insA p.I817fs*11 Insertion - Frameshift Upper_aerodigestive_tract COSM4446810 PHF1 c.160-3C>T p.? Unknown Skin COSM4713912 PHF10 c.695A>G p.D232G Substitution - Missense Large_intestine COSM3499652 SETD3 c.775C>T p.P259S Substitution - Missense Skin COSM5944389 ASXL1 c.2401_2403delGAG p.E802delE Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM374668 KIAA2026_ENST00000399933 c.960G>C p.L320F Substitution - Missense Lung COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM41294 IDH1 c.? p.R132C Substitution - Missense Biliary_tract COSM1035378 HDAC10 c.1525G>A p.V509M Substitution - Missense Endometrium COSM3669943 TAF1L c.4399C>T p.H1467Y Substitution - Missense Liver COSM4970580 SFMBT2 c.613A>G p.I205V Substitution - Missense Central_nervous_system COSM4059658 GTF3C1 c.1907+1G>A p.? Unknown Stomach COSM2158577 JMJD1C c.1020delA p.D341fs*10 Deletion - Frameshift Stomach COSM4392813 GATAD2B c.1152C>G p.A384A Substitution - coding silent Prostate COSM482771 NIPBL c.4131C>A p.T1377T Substitution - coding silent Kidney COSM4168277 PHF6 c.941T>A p.I314N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4985617 PHIP c.3418A>C p.T1140P Substitution - Missense Soft_tissue COSM3048226 SP110 c.2005C>T p.R669C Substitution - Missense Skin COSM1497044 KIAA2026_ENST00000399933 c.3920C>G p.S1307C Substitution - Missense Kidney COSM4058031 CHD2 c.3309T>C p.S1103S Substitution - coding silent Stomach COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Prostate COSM347976 CHD6 c.2674C>T p.R892* Substitution - Nonsense Lung COSM87001 DNMT3A c.2644C>A p.R882S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5367953 CARM1 c.597_598insT p.A202fs*22 Insertion - Frameshift Large_intestine COSM3583871 SMYD1 c.987G>A p.V329V Substitution - coding silent Skin COSM3878494 TRIM24 c.2995G>A p.E999K Substitution - Missense Stomach COSM3382811 BMI1 c.361G>A p.D121N Substitution - Missense Pancreas COSM1349121 KAT6B c.2376T>C p.V792V Substitution - coding silent Large_intestine COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4754290 ARID2 c.3670C>G p.P1224A Substitution - Missense Stomach COSM573095 IDH1 c.326G>A p.R109K Substitution - Missense Central_nervous_system COSM4060268 SETD1A c.119A>G p.Y40C Substitution - Missense Stomach COSM4748089 ATF2 c.621_626+1delAATTGTG p.? Unknown Stomach COSM2965430 KDM6A c.2987A>G p.H996R Substitution - Missense Large_intestine COSM1483949 BRWD1 c.773G>T p.R258I Substitution - Missense Large_intestine COSM1738263 TAF1 c.4325G>A p.R1442Q Substitution - Missense Ovary COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM30453 SUV420H1 c.798T>C p.G266G Substitution - coding silent Kidney COSM1731502 NCOA2 c.2160_2174del15 p.S720_G725>R Complex - deletion inframe Liver COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4623767 RERE c.3220G>A p.A1074T Substitution - Missense Large_intestine COSM3548769 DIDO1 c.6152C>T p.S2051F Substitution - Missense Skin COSM1563480 CDYL2 c.1444C>T p.L482F Substitution - Missense Large_intestine COSM1295552 TDRD5 c.1798G>C p.E600Q Substitution - Missense Urinary_tract COSM363920 ACTR5 c.1682G>T p.G561V Substitution - Missense Lung COSM3451007 MTA2 c.1906C>T p.L636L Substitution - coding silent Skin COSM4624808 CAMKMT c.931C>A p.L311I Substitution - Missense Large_intestine COSM4411260 MSH6 c.1572C>A p.Y524* Substitution - Nonsense Kidney COSM5937972 SETDB1 c.3670-6C>T p.? Unknown Skin COSM5677764 KDM4B c.1120C>G p.H374D Substitution - Missense Soft_tissue COSM5788789 PRDM13 c.1206C>G p.F402L Substitution - Missense Breast COSM961492 MGA c.951A>G p.S317S Substitution - coding silent Endometrium COSM1629919 CHD9 c.1694A>C p.K565T Substitution - Missense Liver COSM1099913 MYST3 c.4707C>T p.Y1569Y Substitution - coding silent Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1220375 PHF21A c.763C>T p.L255F Substitution - Missense Large_intestine COSM3433192 KDM4C c.2170C>T p.R724W Substitution - Missense Large_intestine COSM5039303 DNMT3A c.938G>T p.W313L Substitution - Missense Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4613776 PRDM12 c.136delG p.E47fs*42 Deletion - Frameshift Large_intestine COSM4838460 SETDB1 c.3817G>C p.E1273Q Substitution - Missense Cervix COSM5480625 PRDM15 c.481G>A p.D161N Substitution - Missense Large_intestine COSM758312 BRWD3 c.5030G>A p.G1677E Substitution - Missense Lung COSM1106294 GTF3C4 c.1220C>T p.S407F Substitution - Missense Endometrium COSM4093207 NCOA1 c.1223C>T p.P408L Substitution - Missense Stomach COSM1750613 DNMT1 c.504A>G p.T168T Substitution - coding silent Urinary_tract COSM121828 SETDB2 c.414G>A p.S138S Substitution - coding silent Upper_aerodigestive_tract COSM4991364 ASXL1 c.1782C>T p.C594C Substitution - coding silent Skin COSM895851 POGZ c.279C>T p.N93N Substitution - coding silent Endometrium COSM3406921 MBD5 c.169G>A p.D57N Substitution - Missense Central_nervous_system COSM211730 TET2 c.4093_4094insAG p.G1365fs*84 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM961515 MGA c.4082G>A p.S1361N Substitution - Missense Endometrium COSM84765 EP300 c.3671+1G>A p.? Unknown Pancreas COSM264845 ZGPAT c.576G>A p.E192E Substitution - coding silent Large_intestine COSM1711567 MUM1 c.1451A>G p.Q484R Substitution - Missense Skin COSM5704453 ARID2 c.1716-1G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM249537 KAT6B c.2828A>T p.Q943L Substitution - Missense Kidney COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3764422 KMT2D c.14671G>T p.E4891* Substitution - Nonsense Central_nervous_system COSM745845 KMT2C c.2675G>T p.G892V Substitution - Missense Lung COSM249226 SETDB2 c.365T>A p.L122H Substitution - Missense Kidney COSM5898829 SETD2 c.1394C>T p.S465F Substitution - Missense Skin COSM4510935 RAD54L c.852C>A p.V284V Substitution - coding silent Skin COSM4613929 RERE c.2606delC p.P869fs*91 Deletion - Frameshift Large_intestine COSM3865336 PRDM16 c.2398G>A p.E800K Substitution - Missense Skin COSM5996480 BAG6 c.305C>T p.T102M Substitution - Missense Prostate COSM4900967 TAF1L c.3668A>T p.K1223I Substitution - Missense Skin COSM39881 BTAF1 c.5232G>A p.G1744G Substitution - coding silent Central_nervous_system COSM5718813 NCOA3 c.217A>G p.K73E Substitution - Missense Skin COSM5740589 GTF3C1 c.6193G>A p.V2065M Substitution - Missense Small_intestine COSM2157687 PYGO1 c.380_381insC p.Q127fs*15 Insertion - Frameshift Central_nervous_system COSM1559373 HNF1A c.1545G>A p.T515T Substitution - coding silent Central_nervous_system COSM3642822 TRRAP c.8377C>T p.P2793S Substitution - Missense Skin COSM5432617 MSH6 c.4002-9A>T p.? Unknown Oesophagus COSM5944274 TET2 c.2785delC p.P929fs*24 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5047107 ATAD2 c.355_356insA p.E120fs*17 Insertion - Frameshift Oesophagus COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4533349 BAZ1A c.1970G>A p.R657Q Substitution - Missense Skin COSM4603246 RNF134 c.84_85insGCCTCC p.P28_V29insAS Insertion - In frame Upper_aerodigestive_tract COSM1605010 DPF2 c.904+3A>C p.? Unknown Liver COSM1732114 BAP1 c.2T>C p.M1T Substitution - Missense Eye COSM5935551 BTAF1 c.2309C>T p.P770L Substitution - Missense Skin COSM5413154 BRWD3 c.1336C>T p.L446F Substitution - Missense Skin COSM4480438 SETMAR c.241C>T p.P81S Substitution - Missense Skin COSM3905440 WDR5 c.456C>T p.S152S Substitution - coding silent Large_intestine COSM335979 EPC1 c.1196A>T p.D399V Substitution - Missense Lung COSM1077625 BAG6 c.111G>T p.M37I Substitution - Missense Endometrium COSM1030677 BRWD1 c.5789G>T p.R1930I Substitution - Missense Endometrium COSM3717765 BAHCC1 c.4720C>T p.R1574C Substitution - Missense Liver COSM4532525 BRWD1 c.1892G>A p.G631E Substitution - Missense Skin COSM3850439 KDM3B c.3188G>A p.R1063Q Substitution - Missense Stomach COSM1112291 MORF4L2 c.285T>G p.P95P Substitution - coding silent Endometrium COSM5391879 NCOA6 c.4638C>T p.S1546S Substitution - coding silent Skin COSM4639889 KMT2D c.2474T>C p.M825T Substitution - Missense Large_intestine COSM21486 HNF1A c.872delC p.P291fs*51 Deletion - Frameshift Large_intestine COSM4964810 PRDM12 c.658G>A p.E220K Substitution - Missense Pancreas COSM937156 EP400 c.3325G>C p.V1109L Substitution - Missense Endometrium COSM3900239 MYST3 c.4367T>C p.L1456P Substitution - Missense Stomach COSM223672 CHD8 c.5101G>A p.G1701S Substitution - Missense Skin COSM4614308 RAI1 c.3097delC p.Q1035fs*29 Deletion - Frameshift Large_intestine COSM5753189 TRRAP c.6037G>A p.D2013N Substitution - Missense Pancreas COSM473725 AP001011.3_ENST00000320876 c.3400T>C p.S1134P Substitution - Missense Kidney COSM3453555 RSF1 c.2003C>T p.T668I Substitution - Missense Skin COSM1378075 GLYR1 c.1140delG p.R381fs*20 Deletion - Frameshift Large_intestine COSM3901334 NCOA2 c.4285C>T p.P1429S Substitution - Missense Stomach COSM125571 PRDM9 c.2273G>A p.R758H Substitution - Missense Endometrium COSM4021536 PRDM2 c.231+2T>C p.? Unknown Stomach COSM1123277 PHF8 c.809G>A p.R270H Substitution - Missense Endometrium COSM5511328 AKAP1 c.308G>A p.R103Q Substitution - Missense Biliary_tract COSM4583566 SMEK2 c.2257_2259delGAA p.E753delE Deletion - In frame Bone COSM5990087 ASXL1 c.3632delA p.D1211fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1297692 KMT2A c.3493G>A p.E1165K Substitution - Missense Urinary_tract COSM1399851 MBD5 c.3580delA p.K1195fs*22 Deletion - Frameshift Large_intestine COSM4778192 CHD3 c.3406A>C p.T1136P Substitution - Missense Prostate COSM1660045 HCFC2 c.1054C>G p.L352V Substitution - Missense Kidney COSM4488545 BRPF1 c.3345C>T p.P1115P Substitution - coding silent Skin COSM5697785 PHF11 c.702T>G p.L234L Substitution - coding silent Soft_tissue COSM4445215 CHD7 c.568_569delGG p.G190fs*96 Deletion - Frameshift Large_intestine COSM4483115 HDAC5 c.2672C>T p.S891F Substitution - Missense Skin COSM2151713 CHD9 c.480T>A p.H160Q Substitution - Missense Central_nervous_system COSM1677492 EP400 c.6014G>A p.R2005Q Substitution - Missense Large_intestine COSM3446370 SIRT3 c.505C>T p.Q169* Substitution - Nonsense Skin COSM2805714 SIRT7 c.638G>A p.R213H Substitution - Missense Large_intestine COSM4110049 KDM5C c.2416T>C p.F806L Substitution - Missense Stomach COSM5419217 ZBTB33 c.277G>A p.V93I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1258845 NCOA7 c.2046C>T p.Y682Y Substitution - coding silent Prostate COSM907691 ARID1A c.1776T>A p.Y592* Substitution - Nonsense Endometrium COSM4590784 ATF7IP c.2647C>A p.Q883K Substitution - Missense Upper_aerodigestive_tract COSM4006532 TDRD6 c.1747G>A p.V583I Substitution - Missense Urinary_tract COSM1477121 ZMYM2 c.3739T>C p.W1247R Substitution - Missense Breast COSM1241136 EZH2 c.1546+1G>A p.? Unknown Oesophagus COSM1492754 PRDM4 c.2404T>A p.*802K Nonstop extension Kidney COSM1753243 DHX30 c.1018G>A p.E340K Substitution - Missense Breast COSM313154 NCOA1 c.1758A>G p.K586K Substitution - coding silent Lung COSM3724255 ZMYND11 c.1501G>C p.E501Q Substitution - Missense Upper_aerodigestive_tract COSM4637018 NCOA5 c.514C>T p.R172C Substitution - Missense Large_intestine COSM4677952 DMAP1 c.734A>C p.E245A Substitution - Missense Large_intestine COSM203096 ATAD2 c.354delA p.E119fs*8 Deletion - Frameshift Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1321328 ERCC6 c.1742G>A p.W581* Substitution - Nonsense Ovary COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4060959 GLYR1 c.104A>G p.K35R Substitution - Missense Stomach COSM96534 IDH1 c.401C>A p.A134D Substitution - Missense Thyroid COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3824531 ATXN7 c.1254T>C p.P418P Substitution - coding silent Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM482001 KDM3B c.4272C>T p.L1424L Substitution - coding silent Kidney COSM3410597 EYA4 c.1709T>C p.I570T Substitution - Missense Central_nervous_system COSM27223 RING1 c.933G>A p.Q311Q Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM745476 TRIM24 c.1874C>T p.P625L Substitution - Missense Lung COSM458082 ATRX c.1205T>A p.I402N Substitution - Missense Breast COSM4995124 ARID2 c.4493C>T p.A1498V Substitution - Missense Upper_aerodigestive_tract COSM302137 EP400 c.8181A>G p.Q2727Q Substitution - coding silent Skin COSM3604100 GABRG1 c.178C>T p.H60Y Substitution - Missense Skin COSM1245454 ARID2 c.1624C>T p.R542* Substitution - Nonsense Central_nervous_system COSM302137 EP400 c.8181A>G p.Q2727Q Substitution - coding silent Large_intestine COSM5560239 AP001011.3_ENST00000320876 c.3362T>C p.M1121T Substitution - Missense Prostate COSM3746543 MSH6 c.2936T>C p.L979P Substitution - Missense Liver COSM1162359 IDH1 c.561G>A p.K187K Substitution - coding silent Pancreas COSM5778306 PRDM14 c.1418C>T p.S473F Substitution - Missense Breast COSM3396062 EP400 c.3337A>G p.S1113G Substitution - Missense Prostate COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4883041 PRDM15 c.1548G>A p.P516P Substitution - coding silent Upper_aerodigestive_tract COSM921716 HELLS c.1276G>T p.D426Y Substitution - Missense Endometrium COSM21309 TRRAP c.4312C>T p.R1438W Substitution - Missense Large_intestine COSM4590631 GLYR1 c.1377C>G p.H459Q Substitution - Missense Upper_aerodigestive_tract COSM4480868 BAZ2B c.2461C>T p.P821S Substitution - Missense Skin COSM51456 ARID1A c.1108_1108delG p.Q372fs*19 Deletion - Frameshift Ovary COSM1165143 PWWP2B c.321G>A p.P107P Substitution - coding silent Large_intestine COSM5823489 RAI1 c.2314G>A p.G772S Substitution - Missense Liver COSM248833 TDRD6 c.1006C>T p.R336W Substitution - Missense Large_intestine COSM5811971 KDM2A c.1377A>C p.E459D Substitution - Missense Liver COSM990 SMARCB1 c.778C>T p.Q260* Substitution - Nonsense Central_nervous_system COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM25821 MEN1 c.1256delG p.G419fs*26 Deletion - Frameshift Parathyroid COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Pancreas COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM53016 EZH2 c.763G>A p.A255T Substitution - Missense Soft_tissue COSM70665 EYA3 c.1438C>G p.L480V Substitution - Missense Ovary COSM107628 BTAF1 c.3069A>T p.Q1023H Substitution - Missense Skin COSM109916 MBD3 c.677G>A p.R226K Substitution - Missense Skin COSM211617 TET2 c.3061C>T p.Q1021* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM211707 TET2 c.565_565delA p.S189fs*18 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM211710 TET2 c.970C>T p.Q324* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM249455 KDM5C c.4008_4009insA p.R1337fs*10 Insertion - Frameshift Kidney COSM246697 POGZ c.1667A>G p.Y556C Substitution - Missense Liver COSM269013 DIDO1 c.633C>T p.G211G Substitution - coding silent Large_intestine COSM270870 SCML2 c.1412G>T p.R471M Substitution - Missense Large_intestine COSM259585 ATXN7 c.1755G>A p.P585P Substitution - coding silent Large_intestine COSM342371 DIDO1 c.2511G>C p.L837F Substitution - Missense Lung COSM342485 GABRG1 c.975T>C p.P325P Substitution - coding silent Lung COSM379376 DAXX c.1728G>A p.L576L Substitution - coding silent Lung COSM403876 TAF1L c.3113A>C p.K1038T Substitution - Missense Biliary_tract COSM416706 BAZ1A c.4268G>A p.R1423Q Substitution - Missense Urinary_tract COSM426746 RERE c.2475G>A p.P825P Substitution - coding silent Large_intestine COSM448602 PHF15 c.1147G>A p.A383T Substitution - Missense Breast COSM447711 WHSC1 c.1777G>A p.A593T Substitution - Missense Breast COSM454818 EYA1 c.626A>G p.N209S Substitution - Missense Breast COSM468399 HDAC7 c.1856G>C p.G619A Substitution - Missense Kidney COSM985478 CHD3 c.3233G>A p.R1078Q Substitution - Missense Endometrium COSM988830 MBD1 c.1123C>T p.R375C Substitution - Missense Endometrium COSM979416 KAT2A c.1527G>A p.T509T Substitution - coding silent Endometrium COSM480394 PBRM1 c.1757T>C p.M586T Substitution - Missense Kidney COSM608354 TAF1L c.2839C>T p.H947Y Substitution - Missense Skin COSM690310 SUV420H1 c.1120C>G p.Q374E Substitution - Missense Lung COSM1015578 IDH1 c.355C>T p.R119W Substitution - Missense Endometrium COSM702825 GTF3C1 c.4969G>A p.V1657I Substitution - Missense Lung COSM708622 SIRT7 c.803G>T p.G268V Substitution - Missense Lung COSM930493 KAT5 c.629G>A p.R210H Substitution - Missense Endometrium COSM993706 DOT1L c.202T>C p.F68L Substitution - Missense Endometrium COSM1073185 L3MBTL3 c.2091C>T p.V697V Substitution - coding silent Large_intestine COSM961971 TP53BP1 c.4921G>A p.A1641T Substitution - Missense Endometrium COSM1045678 SMARCC1 c.852T>G p.D284E Substitution - Missense Endometrium COSM1071545 CHD1 c.4174C>T p.H1392Y Substitution - Missense Endometrium COSM1100767 CHD7 c.258G>A p.P86P Substitution - coding silent Large_intestine COSM1251472 ERCC6 c.3053C>A p.T1018K Substitution - Missense Stomach COSM1166714 ERCC6 c.3461C>T p.S1154F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1240389 TDG c.20G>A p.G7D Substitution - Missense Oesophagus COSM1248230 CHD8 c.5574C>T p.C1858C Substitution - coding silent Stomach COSM1251234 EP400 c.1533G>A p.P511P Substitution - coding silent Oesophagus COSM1583151 DNMT3A c.2679G>C p.W893C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1207794 GABRG1 c.47G>T p.S16I Substitution - Missense Large_intestine COSM1265331 SETBP1 c.487C>A p.L163I Substitution - Missense Oesophagus COSM1178128 ZMYM3 c.974A>G p.Y325C Substitution - Missense Central_nervous_system COSM1211731 KDM4A c.1873A>G p.T625A Substitution - Missense Large_intestine COSM1378352 FTO c.154C>T p.R52* Substitution - Nonsense Large_intestine COSM1407104 DNMT3A c.2158C>T p.R720C Substitution - Missense Large_intestine COSM1454658 ATAD2 c.810T>C p.D270D Substitution - coding silent Large_intestine COSM1465255 ZBTB33 c.1972A>G p.T658A Substitution - Missense Large_intestine COSM1453170 TRRAP c.4415G>A p.R1472H Substitution - Missense Large_intestine COSM1443233 TCF19 c.325delC p.P110fs*65 Deletion - Frameshift Large_intestine COSM1443309 BAG6 c.1953T>C p.P651P Substitution - coding silent Prostate COSM1363049 SMARCC2 c.2373C>T p.S791S Substitution - coding silent Large_intestine COSM1363776 CHD4 c.417G>T p.E139D Substitution - Missense Large_intestine COSM1559371 HNF1A c.293C>G p.A98G Substitution - Missense Central_nervous_system COSM1480330 SETBP1 c.3689C>T p.T1230I Substitution - Missense Breast COSM1487066 CHD1 c.107C>G p.S36C Substitution - Missense Breast COSM1615692 NCOA3 c.996A>G p.V332V Substitution - coding silent Liver COSM1672540 PHF3 c.1475A>C p.K492T Substitution - Missense Large_intestine COSM1709076 SRCAP c.3973C>T p.P1325S Substitution - Missense Skin COSM1717602 KMT2D c.7390C>T p.R2464* Substitution - Nonsense Oesophagus COSM2151099 DAXX c.1759T>C p.S587P Substitution - Missense Central_nervous_system COSM2723784 ZBTB33 c.1748T>G p.L583R Substitution - Missense Large_intestine COSM3153140 EP300 c.3621G>A p.E1207E Substitution - coding silent Upper_aerodigestive_tract COSM3160315 PHF3 c.4192delT p.F1399fs*30 Deletion - Frameshift Large_intestine COSM3262380 KMT2C c.14615C>T p.S4872F Substitution - Missense Skin COSM3378263 AKAP1 c.2453C>T p.P818L Substitution - Missense Pancreas COSM3380722 BRPF1 c.2415C>A p.S805R Substitution - Missense Pancreas COSM3408709 SETD2 c.2870G>A p.W957* Substitution - Nonsense Central_nervous_system COSM3405072 ACTR5 c.934C>T p.R312W Substitution - Missense Central_nervous_system COSM3488890 ZMYM4 c.2125C>T p.Q709* Substitution - Nonsense Urinary_tract COSM3467878 RNF17 c.696G>A p.E232E Substitution - coding silent Skin COSM3630867 ACTL6B c.301G>A p.D101N Substitution - Missense Skin COSM3637566 STK31 c.2807C>T p.P936L Substitution - Missense Skin COSM3627948 TDRD6 c.674C>T p.P225L Substitution - Missense Skin COSM3546244 ACTR5 c.1680G>A p.K560K Substitution - coding silent Skin COSM3563677 BRWD3 c.3733C>T p.Q1245* Substitution - Nonsense Skin COSM3521208 BPTF c.5328C>T p.S1776S Substitution - coding silent Skin COSM3663764 MYST3 c.4997C>T p.P1666L Substitution - Missense Liver COSM3647910 ELP3 c.931C>T p.R311C Substitution - Missense Skin COSM3687035 TRIM33 c.1029G>A p.Q343Q Substitution - coding silent Large_intestine COSM3719128 TET2 c.3728A>G p.K1243R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3742623 SETBP1 c.3004G>T p.D1002Y Substitution - Missense Liver COSM3749370 SETD6 c.193T>C p.L65L Substitution - coding silent Large_intestine COSM3778215 EZH2 c.812C>A p.S271Y Substitution - Missense Urinary_tract COSM3780553 TAF1 c.4750+1G>A p.? Unknown Pancreas COSM3799088 SMEK2 c.1809G>C p.Q603H Substitution - Missense Urinary_tract COSM3792120 TDG c.774G>C p.K258N Substitution - Missense Urinary_tract COSM3855013 NIPBL c.2550T>C p.S850S Substitution - coding silent Stomach COSM3841173 NCOA5 c.576T>G p.F192L Substitution - Missense Breast COSM3830678 TDRD6 c.3830C>T p.S1277L Substitution - Missense Breast COSM3883692 TRRAP c.320G>A p.R107H Substitution - Missense Stomach COSM3892129 DOT1L c.2652C>T p.P884P Substitution - coding silent Skin COSM3967348 KMT2A c.7724C>T p.P2575L Substitution - Missense Central_nervous_system COSM3970275 PHF23 c.699A>G p.P233P Substitution - coding silent Central_nervous_system COSM3966496 ARID1A c.1282C>T p.Q428* Substitution - Nonsense Central_nervous_system COSM4021109 TTF2 c.1490G>A p.R497H Substitution - Missense Stomach COSM4018284 KMT2A c.1259G>A p.R420Q Substitution - Missense Stomach COSM4054459 INOC1 c.4034C>T p.S1345F Substitution - Missense Stomach COSM4034413 PHRF1 c.1080A>T p.K360N Substitution - Missense Stomach COSM3984772 LBR c.1143T>A p.F381L Substitution - Missense Kidney COSM4111130 ATRX c.7461C>T p.S2487S Substitution - coding silent Stomach COSM4111168 ATRX c.546A>G p.Q182Q Substitution - coding silent Stomach COSM4097812 NCOA6 c.1013T>C p.M338T Substitution - Missense Stomach COSM4061541 SETD6 c.405-1G>A p.? Unknown Stomach COSM4170427 KMT2D c.7123C>T p.R2375* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4393506 SMARCA1 c.2978G>C p.R993P Substitution - Missense Prostate COSM4445221 CHD7 c.8250T>G p.F2750L Substitution - Missense Large_intestine COSM4425905 SND1 c.2395G>A p.A799T Substitution - Missense Pancreas COSM4502211 GABRG1 c.607C>T p.P203S Substitution - Missense Skin COSM4422673 LBR c.117G>A p.V39V Substitution - coding silent Large_intestine COSM4410937 BAP1 c.553G>A p.G185R Substitution - Missense Kidney COSM4767597 KDM6A c.901C>T p.Q301* Substitution - Nonsense Biliary_tract COSM4765960 BRD3 c.72_73insC p.E25fs*51 Insertion - Frameshift Stomach COSM4689598 HCFC1 c.445A>G p.S149G Substitution - Missense Large_intestine COSM4776608 ARID2 c.3943G>A p.E1315K Substitution - Missense Breast COSM4614822 SIRT7 c.827_828insA p.Y277fs*12 Insertion - Frameshift Large_intestine COSM4631627 RAI1 c.2550C>T p.F850F Substitution - coding silent Large_intestine COSM4799310 TRRAP c.151-1G>A p.? Unknown Liver COSM4938604 KAT2A c.2111C>A p.P704H Substitution - Missense Liver COSM4930310 PRDM1 c.125A>T p.Q42L Substitution - Missense Liver COSM4915896 NCOA3 c.3390A>G p.G1130G Substitution - coding silent Liver COSM4928755 PCNA c.678A>G p.T226T Substitution - coding silent Liver COSM4914183 BRD8 c.3331A>G p.T1111A Substitution - Missense Liver COSM4827486 UHRF1 c.1422C>A p.V474V Substitution - coding silent Cervix COSM4850401 KMT2D c.14095G>T p.E4699* Substitution - Nonsense Cervix COSM5022478 MECOM c.1400C>T p.S467L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5020715 KMT2D c.13663C>T p.R4555W Substitution - Missense Soft_tissue COSM5051033 KAT5 c.276G>A p.T92T Substitution - coding silent Stomach COSM5346672 EYA4 c.992G>T p.S331I Substitution - Missense Urinary_tract COSM5348140 ELP3 c.374delA p.Q125fs*11 Deletion - Frameshift Liver COSM5380515 ARID1A c.3404C>T p.P1135L Substitution - Missense Skin COSM5490541 BAP1 c.438-1G>T p.? Unknown Eye COSM5492785 PHF21A c.357A>T p.S119S Substitution - coding silent Biliary_tract COSM5505579 MBTD1 c.688G>A p.D230N Substitution - Missense Biliary_tract COSM5644932 ZBTB33 c.1522A>G p.S508G Substitution - Missense Oesophagus COSM5751797 KDM6A c.929_930insT p.I311fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5722704 CBX8 c.433G>A p.E145K Substitution - Missense Skin COSM5599022 ACTR5 c.312C>T p.V104V Substitution - coding silent Skin COSM5601375 DNMT1 c.3750C>T p.S1250S Substitution - coding silent Skin COSM5584154 TDRKH c.1237C>T p.P413S Substitution - Missense Skin COSM5702526 BAP1 c.2009_2029del21 p.N670_C676del Deletion - In frame Eye COSM5666225 TAF1L c.922A>T p.K308* Substitution - Nonsense Soft_tissue COSM5574208 NCOR1 c.76C>A p.Q26K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5762937 SETBP1 c.1196A>G p.H399R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5767156 TRIM24 c.102G>C p.E34D Substitution - Missense Breast COSM5792822 CHD4 c.3338A>G p.N1113S Substitution - Missense Breast COSM5803431 IDH1 c.81A>G p.K27K Substitution - coding silent Liver COSM5892039 EHMT1 c.3447G>A p.K1149K Substitution - coding silent Skin COSM5990825 SP140_ENST00000392045 c.160G>T p.A54S Substitution - Missense Liver COSM5986179 SETD2 c.2246C>A p.S749* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM6008821 PHF6 c.93_94delAC p.L31fs*4 Deletion - Frameshift Prostate COSM5972472 KDM6B c.1914C>T p.P638P Substitution - coding silent Upper_aerodigestive_tract COSM4767404 MEN1 c.?_?del? p.I247fs*? Deletion - Frameshift Thyroid COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5880301 ATRX c.? p.R2197L Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96342 DNMT3A c.?_?del? p.R488fs*? Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53133 TET2 c.? p.Q888* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5415906 TET2 c.? p.N1890S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5389628 DPF1 c.203G>A p.G68E Substitution - Missense Skin COSM5645185 SIRT2 c.416A>G p.Y139C Substitution - Missense Oesophagus COSM4571305 CREBBP c.4288T>G p.Y1430D Substitution - Missense Skin COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM36248 IDH1 c.? p.R132? Substitution - Missense Bone COSM221142 KMT2D c.4817_4820delACAG p.D1606fs*38 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1716695 ATRX c.4159delT p.S1387fs*103 Deletion - Frameshift Central_nervous_system COSM5575883 TAF1L c.4661A>C p.K1554T Substitution - Missense Stomach COSM4137121 DIDO1 c.117C>T p.G39G Substitution - coding silent Ovary COSM326139 PHF2 c.3161G>A p.R1054Q Substitution - Missense Lung COSM2965340 KDM6A c.1440C>T p.L480L Substitution - coding silent Lung COSM1726060 POGZ c.2776G>C p.A926P Substitution - Missense Liver COSM5697745 RSF1 c.2164A>G p.T722A Substitution - Missense Soft_tissue COSM1602150 ARID1A c.4494G>A p.W1498* Substitution - Nonsense Liver COSM1169593 PBRM1 c.646C>T p.Q216* Substitution - Nonsense Kidney COSM2078765 PHC2 c.573G>A p.Q191Q Substitution - coding silent Large_intestine COSM3013871 PRDM9 c.2452C>G p.H818D Substitution - Missense Upper_aerodigestive_tract COSM307769 ASXL1 c.1925_1926insA p.G643fs*15 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM144628 PHF6 c.986A>T p.H329L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1626230 ATRX c.4014_4015delTA p.H1338fs*11 Deletion - Frameshift Central_nervous_system COSM4994360 PHF3 c.4061A>C p.Q1354P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4622043 SIRT3 c.986G>A p.S329N Substitution - Missense Large_intestine COSM4993528 KDM6A c.1333A>T p.T445S Substitution - Missense Skin COSM133741 DNMT3A c.1865_1866insGT p.Y623fs*29 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3778723 TRRAP c.4036G>A p.E1346K Substitution - Missense Urinary_tract COSM4766129 TET2 c.3664G>T p.E1222* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM5577341 CHD6 c.3534C>T p.A1178A Substitution - coding silent Skin COSM401104 PCGF6 c.167G>T p.C56F Substitution - Missense Lung COSM1399865 EPC2 c.2351+1_2351+2delGT p.? Unknown Large_intestine COSM97165 PRDM1 c.903_904insC p.S302fs*86 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4949329 TP53BP1 c.2047A>T p.N683Y Substitution - Missense Liver COSM272377 ATXN7 c.1248C>T p.P416P Substitution - coding silent Large_intestine COSM1737964 TET2 c.3765C>G p.Y1255* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3995244 MLL5 c.785T>G p.I262S Substitution - Missense Kidney COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3524751 SMCHD1 c.2452C>T p.R818C Substitution - Missense Skin COSM1132472 KIAA2026_ENST00000399933 c.1288C>A p.L430I Substitution - Missense Prostate COSM4043682 BAZ2A c.1688A>G p.E563G Substitution - Missense Stomach COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM2178774 TTF2 c.51C>T p.T17T Substitution - coding silent Large_intestine COSM3166304 ATAD2 c.3909G>T p.Q1303H Substitution - Missense Large_intestine COSM249607 SMARCA4 c.3424T>G p.F1142V Substitution - Missense Kidney COSM3525875 SETBP1 c.3764C>T p.P1255L Substitution - Missense Skin COSM988859 CXXC1 c.1727C>T p.T576M Substitution - Missense Endometrium COSM32331 TAF1 c.4877delT p.L1626fs*6 Deletion - Frameshift Breast COSM85916 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM253142 EP400 c.5989_5990insA p.N1998fs*4 Insertion - Frameshift Ovary COSM1289979 SETDB1 c.2143A>G p.K715E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1117755 HCFC1 c.1763C>T p.S588L Substitution - Missense Skin COSM5773526 WHSC1L1 c.1907T>C p.V636A Substitution - Missense Breast COSM5058729 SP110 c.350C>T p.T117I Substitution - Missense Stomach COSM5004225 SMARCB1 c.782G>A p.R261H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3425270 EPC2 c.2063G>A p.S688N Substitution - Missense Large_intestine COSM3883748 TRRAP c.6625C>T p.P2209S Substitution - Missense Stomach COSM913365 MTF2 c.732T>G p.F244L Substitution - Missense Endometrium COSM5768779 CARM1 c.1693G>A p.G565S Substitution - Missense Breast COSM693904 ARID2 c.3044A>C p.Q1015P Substitution - Missense Lung COSM1677487 EP400 c.2483G>A p.S828N Substitution - Missense Large_intestine COSM4461002 KMT2C c.11897C>T p.P3966L Substitution - Missense Skin COSM3127209 PRMT10 c.41delG p.G14fs*45 Deletion - Frameshift Large_intestine COSM3372297 PHF8 c.293+1G>T p.? Unknown Thyroid COSM1754976 ACTL6B c.195C>T p.F65F Substitution - coding silent Urinary_tract COSM3370568 CDYL2 c.541T>C p.L181L Substitution - coding silent Thyroid COSM217100 SRCAP c.6297+2T>A p.? Unknown Liver COSM1483713 NCOA3 c.3741_3749delGCAGCAGCA p.Q1274_Q1276delQQQ Deletion - In frame Large_intestine COSM5038460 BRD3 c.595A>C p.T199P Substitution - Missense Skin COSM5062704 TRRAP c.7603G>A p.E2535K Substitution - Missense Stomach COSM4000524 MUM1 c.135T>C p.S45S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4484770 BTAF1 c.284C>T p.S95L Substitution - Missense Skin COSM4936430 NCOA1 c.4326A>T p.*1442Y Nonstop extension Liver COSM5403283 PRDM9 c.1534T>A p.L512I Substitution - Missense Skin COSM1753989 BRD8 c.671C>T p.S224F Substitution - Missense Upper_aerodigestive_tract COSM2080283 ZMYM4 c.1402A>G p.S468G Substitution - Missense Large_intestine COSM1626463 GATAD2B c.1575T>A p.S525S Substitution - coding silent Liver COSM4074056 SMARCA4 c.3830C>T p.P1277L Substitution - Missense Large_intestine COSM5348447 HCFC2 c.2269_2270insT p.S757fs*14 Insertion - Frameshift Liver COSM84282 INOC1 c.4324A>G p.K1442E Substitution - Missense Pancreas COSM5903359 POGZ c.2138A>G p.Q713R Substitution - Missense Skin COSM4985024 LMNA c.1338T>C p.D446D Substitution - coding silent Soft_tissue COSM4069239 PHF23 c.82C>T p.R28W Substitution - Missense Stomach COSM4775025 PHF6 c.789_790insGC p.D264fs*16 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM404627 ING3 c.243G>T p.Q81H Substitution - Missense Lung COSM5708970 TET2 c.4131C>A p.F1377L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5047770 TET2 c.2461C>T p.Q821* Substitution - Nonsense Oesophagus COSM3988224 CHD2 c.497C>T p.A166V Substitution - Missense Kidney COSM3907639 KDM4C c.2253G>C p.W751C Substitution - Missense Stomach COSM5511727 SMYD5 c.759-7G>A p.? Unknown Biliary_tract COSM2810374 ASXL3 c.2087G>A p.R696Q Substitution - Missense Central_nervous_system COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1441795 JARID2 c.1770delC p.P592fs*57 Deletion - Frameshift Large_intestine COSM1363347 MBD6 c.2194delC p.Q734fs*18 Deletion - Frameshift Large_intestine COSM420320 ATXN7 c.463C>T p.Q155* Substitution - Nonsense Lung COSM3824533 ATXN7 c.1609G>C p.D537H Substitution - Missense Breast COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4109804 HDAC6 c.2264C>T p.S755L Substitution - Missense Stomach COSM2061108 SMNDC1 c.408C>T p.G136G Substitution - coding silent Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1676671 CHD4 c.2554T>C p.Y852H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1115432 PHF6 c.256C>T p.H86Y Substitution - Missense Endometrium COSM3398705 KDM5A c.3571C>T p.L1191F Substitution - Missense Central_nervous_system COSM1602274 ZMYM4 c.3434-4A>G p.? Unknown Liver COSM939008 KDM5A c.4283G>A p.S1428N Substitution - Missense Endometrium COSM22641 MEN1 c.1050_1051delCT p.? Unknown Gastrointestinal_tract_(site_indeterminate) COSM4423478 ZMYM3 c.397A>G p.N133D Substitution - Missense Central_nervous_system COSM5752650 SMARCA4 c.2023C>T p.Q675* Substitution - Nonsense Breast COSM3053481 SMEK2 c.655A>T p.I219F Substitution - Missense Large_intestine COSM4152220 PSIP1 c.185C>G p.S62* Substitution - Nonsense Ovary COSM4063044 CDYL2 c.484G>A p.G162S Substitution - Missense Stomach COSM4732895 TDRD10 c.712C>T p.P238S Substitution - Missense Large_intestine COSM4737271 TTF2 c.2572delT p.F859fs*12 Deletion - Frameshift Large_intestine COSM234681 MECOM c.1629G>A p.K543K Substitution - coding silent Skin COSM1340894 SMYD3 c.21C>T p.R7R Substitution - coding silent Large_intestine COSM5549154 CDYL2 c.678G>A p.A226A Substitution - coding silent Prostate COSM1193827 EHMT1 c.2293G>T p.G765C Substitution - Missense Lung COSM3706560 MGA c.7660A>G p.K2554E Substitution - Missense Liver COSM5653963 KAT2B c.579C>T p.L193L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2797715 BPTF c.2930C>T p.A977V Substitution - Missense Oesophagus COSM21478 HNF1A c.618G>T p.W206C Substitution - Missense Liver COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1034768 TCF20 c.2794G>T p.D932Y Substitution - Missense Endometrium COSM468037 EP400 c.8226A>G p.Q2742Q Substitution - coding silent Kidney COSM3369765 SCMH1 c.249G>A p.R83R Substitution - coding silent Thyroid COSM1295855 SMYD2 c.354C>A p.I118I Substitution - coding silent Urinary_tract COSM3421108 PRMT7 c.2038G>A p.D680N Substitution - Missense Large_intestine COSM1067093 PRDM9 c.2379T>A p.S793R Substitution - Missense Oesophagus COSM88784 EP300 c.4879C>T p.R1627W Substitution - Missense Skin COSM4834545 ARID4A c.2905G>A p.E969K Substitution - Missense Cervix COSM5777508 KMT2C c.1796A>T p.D599V Substitution - Missense Breast COSM3820849 CBX8 c.146T>C p.L49P Substitution - Missense Breast COSM4995284 PYGO2 c.971C>T p.P324L Substitution - Missense Upper_aerodigestive_tract COSM4511339 SP140_ENST00000392045 c.864C>T p.Y288Y Substitution - coding silent Skin COSM5383249 RTF1 c.675C>T p.S225S Substitution - coding silent Skin COSM993839 DOT1L c.3645G>A p.P1215P Substitution - coding silent Large_intestine COSM4888852 PHF20 c.2906G>T p.S969I Substitution - Missense Upper_aerodigestive_tract COSM750800 NCOA2 c.887G>A p.W296* Substitution - Nonsense Lung COSM2777597 KIAA2026_ENST00000399933 c.2427T>C p.S809S Substitution - coding silent Large_intestine COSM110715 ASXL1 c.? p.? Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5368546 NSD1 c.6986T>G p.L2329R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM42016 TET2 c.4393C>T p.R1465* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4909710 PRDM14 c.426G>A p.P142P Substitution - coding silent Liver COSM5738813 ZMYND11 c.1322G>A p.R441Q Substitution - Missense Small_intestine COSM4838639 BMI1 c.337G>C p.D113H Substitution - Missense Cervix COSM1308204 EP300 c.2482C>T p.H828Y Substitution - Missense Urinary_tract COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM255972 SMYD1 c.998G>A p.R333Q Substitution - Missense Central_nervous_system COSM4385888 PYGO1 c.50-2_50-1insT p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5984118 KDM3A c.79G>A p.D27N Substitution - Missense Upper_aerodigestive_tract COSM1682288 EP300 c.4319C>T p.P1440L Substitution - Missense Oesophagus COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1737980 BAP1 c.? p.? Unknown Eye COSM5904506 HCFC1 c.2423C>T p.S808F Substitution - Missense Skin COSM4775128 DNMT3A c.1554+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5735266 PRDM2 c.1253G>A p.R418Q Substitution - Missense Small_intestine COSM3801349 TRIM33 c.3190C>T p.Q1064* Substitution - Nonsense Breast COSM21486 HNF1A c.872delC p.P291fs*51 Deletion - Frameshift Large_intestine COSM1394330 UHRF1 c.2014_2015insC p.P674fs*35 Insertion - Frameshift Central_nervous_system COSM25395 EYA1 c.336A>G p.T112T Substitution - coding silent Upper_aerodigestive_tract COSM1111302 PHF2 c.2193T>C p.D731D Substitution - coding silent Endometrium COSM5629112 SMYD5 c.269A>G p.H90R Substitution - Missense Oesophagus COSM202736 SETD8 c.199C>T p.R67C Substitution - Missense Large_intestine COSM4097972 PHF20 c.1601A>G p.K534R Substitution - Missense Stomach COSM969260 GTF3C1 c.2401C>T p.R801W Substitution - Missense Large_intestine COSM1039199 ZBTB38 c.1427G>A p.R476Q Substitution - Missense Endometrium COSM1179669 KMT2C c.943G>A p.G315S Substitution - Missense Soft_tissue COSM4168979 TDG c.946G>C p.D316H Substitution - Missense Peritoneum COSM1628163 DPF2 c.685G>T p.A229S Substitution - Missense Liver COSM166851 TIF1 c.2626C>T p.R876C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5727820 KMT2C c.10170C>T p.P3390P Substitution - coding silent Skin COSM4079956 UHRF1 c.1453C>G p.H485D Substitution - Missense Stomach COSM2269473 BAHD1 c.1284C>T p.F428F Substitution - coding silent Thyroid COSM289783 SP140_ENST00000392045 c.72G>T p.E24D Substitution - Missense Large_intestine COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1291682 KAT2B c.1260A>G p.G420G Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM750786 EYA1 c.865G>C p.D289H Substitution - Missense Lung COSM5581667 KMT2A c.2111C>T p.P704L Substitution - Missense Skin COSM5502899 SMARCA5 c.1495+7G>A p.? Unknown Biliary_tract COSM3707124 SIRT2 c.269-8T>A p.? Unknown Liver COSM51978 BAP1 c.757C>T p.Q253* Substitution - Nonsense Kidney COSM1368703 MTA1 c.1139C>T p.T380M Substitution - Missense Large_intestine COSM41877 IDH2 c.418C>T p.R140W Substitution - Missense Large_intestine COSM1738286 HDAC9 c.1757G>A p.R586H Substitution - Missense Ovary COSM3756106 AP001011.3_ENST00000320876 c.174G>C p.A58A Substitution - coding silent Large_intestine COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Large_intestine COSM266657 HAT1 c.1172T>C p.I391T Substitution - Missense Large_intestine COSM3583870 SMYD1 c.939G>A p.L313L Substitution - coding silent Skin COSM3700959 TP53BP1 c.1625A>T p.N542I Substitution - Missense Liver COSM5708575 TBL1XR1 c.1122+1delG p.? Unknown Haematopoietic_and_lymphoid_tissue COSM936103 SETD1B c.2185C>T p.R729W Substitution - Missense Endometrium COSM4060189 SRCAP c.2630+1G>A p.? Unknown Stomach COSM3663963 TDRD7 c.613A>C p.R205R Substitution - coding silent Liver COSM146934 ERCC6 c.2751C>T p.G917G Substitution - coding silent Soft_tissue COSM4097800 NCOA6 c.5167G>C p.A1723P Substitution - Missense Stomach COSM738848 CHD1 c.1214G>T p.G405V Substitution - Missense Lung COSM2157502 MTA2 c.785G>A p.R262Q Substitution - Missense Central_nervous_system COSM229648 PRDM16 c.1864G>A p.G622S Substitution - Missense Skin COSM1473817 ARID1A c.5841G>T p.Q1947H Substitution - Missense Breast COSM4517556 RAD54L c.370_371CC>TT p.P124F Substitution - Missense Skin COSM3653747 PHF19 c.1132T>G p.L378V Substitution - Missense Skin COSM755701 MECP2 c.359A>G p.Y120C Substitution - Missense Lung COSM717678 ATF2 c.1432A>T p.T478S Substitution - Missense Lung COSM1756087 PSIP1 c.56C>T p.P19L Substitution - Missense Skin COSM1628641 KMT2D c.5373+7C>G p.? Unknown Liver COSM365079 CHD9 c.6961G>T p.G2321C Substitution - Missense Lung COSM387584 KDM3B c.1667C>T p.S556L Substitution - Missense Lung COSM131571 ASXL1 c.? p.N893fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM3367400 NCOA2 c.2278C>A p.P760T Substitution - Missense Kidney COSM35551 ING4 c.700G>A p.G234R Substitution - Missense Central_nervous_system COSM3451771 DPF2 c.1007C>T p.S336F Substitution - Missense Skin COSM96343 DNMT3A c.? p.E523* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM284220 PRDM15 c.1323C>T p.F441F Substitution - coding silent Large_intestine COSM3291759 CHD6 c.714G>A p.S238S Substitution - coding silent Liver COSM1236341 RAI1 c.5579G>T p.C1860F Substitution - Missense Autonomic_ganglia COSM1470335 RERE c.3901G>A p.E1301K Substitution - Missense Prostate COSM3810881 PRDM4 c.87C>G p.V29V Substitution - coding silent Breast COSM1341886 PRDM16 c.2119G>A p.G707S Substitution - Missense Large_intestine COSM3794905 CHD9 c.3979G>A p.D1327N Substitution - Missense Urinary_tract COSM3637083 HDAC9 c.2869G>A p.G957R Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1716676 ATRX c.3146delT p.I1049fs*69 Deletion - Frameshift Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5888185 PHC1 c.115-5C>T p.? Unknown Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1283684 BRWD3 c.1756C>T p.P586S Substitution - Missense Autonomic_ganglia COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5477972 PRDM4 c.1856A>C p.K619T Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5354639 SMYD5 c.835G>A p.E279K Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1386348 ZBTB4 c.11delC p.P4fs*4 Deletion - Frameshift Breast COSM5744476 KDM2B c.784G>A p.E262K Substitution - Missense Small_intestine COSM3642755 TRRAP c.1965C>T p.V655V Substitution - coding silent Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3568253 BAZ2B c.4757C>T p.P1586L Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1100882 CHD7 c.7266G>A p.E2422E Substitution - coding silent Endometrium COSM21477 HNF1A c.817A>G p.K273E Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5783963 ADNP c.2239G>A p.E747K Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3508965 SETD1A c.408C>T p.G136G Substitution - coding silent Skin COSM695011 APOBEC1 c.221G>C p.R74T Substitution - Missense Lung COSM3479277 TDRD5 c.616G>A p.E206K Substitution - Missense Skin COSM4381997 MTA2 c.343G>C p.D115H Substitution - Missense Large_intestine COSM33732 IDH2 c.515G>T p.R172M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5948825 TBL1XR1 c.1126T>G p.W376G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1579300 DMAP1 c.57T>A p.D19E Substitution - Missense Fallopian_tube COSM484771 SND1 c.513T>C p.H171H Substitution - coding silent Kidney COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1185005 BTAF1 c.3955T>C p.S1319P Substitution - Missense Large_intestine COSM4917618 ARID1B c.3149A>G p.E1050G Substitution - Missense Liver COSM5013612 ZMYND8 c.1933A>T p.M645L Substitution - Missense Kidney COSM3596274 SFMBT1 c.2420C>T p.S807F Substitution - Missense Skin COSM1099907 MYST3 c.5102C>T p.P1701L Substitution - Missense Endometrium COSM473994 L3MBTL4 c.128T>C p.V43A Substitution - Missense Large_intestine COSM3479277 TDRD5 c.616G>A p.E206K Substitution - Missense Biliary_tract COSM1567957 ARID1B c.5872G>A p.G1958R Substitution - Missense Large_intestine COSM1605652 SIRT4 c.792+3A>G p.? Unknown Liver COSM1495179 BRWD1 c.4072A>G p.M1358V Substitution - Missense Kidney COSM1580528 ARID1A c.5944G>A p.V1982I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3745063 PHF10 c.539+2T>C p.? Unknown Liver COSM291820 KDM3B c.277G>A p.E93K Substitution - Missense Large_intestine COSM1073180 L3MBTL3 c.1106C>T p.S369L Substitution - Missense Endometrium COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43396 SETD2 c.3769_3777del9 p.N1257_H1259del Deletion - In frame Kidney COSM43007 EYA1 c.1082G>T p.R361L Substitution - Missense Central_nervous_system COSM85911 IKZF1 c.161-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53204 ASXL1 c.2290_2290delC p.L764fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM51251 ARID1A c.1650_1651insC p.Y551fs*72 Insertion - Frameshift Ovary COSM88115 CCDC101 c.166C>T p.R56W Substitution - Missense Central_nervous_system COSM110707 ASXL1 c.1762C>T p.Q588* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM132994 ARID1A c.1657C>T p.Q553* Substitution - Nonsense Large_intestine COSM144223 ATRX c.4276C>T p.R1426* Substitution - Nonsense Central_nervous_system COSM221056 KMT2D c.7243C>T p.R2415* Substitution - Nonsense Central_nervous_system COSM167360 EYA4 c.1231G>T p.E411* Substitution - Nonsense Endometrium COSM211678 TET2 c.1110T>A p.Y370* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM232575 KAT2B c.1774C>T p.H592Y Substitution - Missense Skin COSM230827 ATRX c.6301G>A p.E2101K Substitution - Missense Skin COSM238253 STK31 c.1713+9C>T p.? Unknown Prostate COSM254543 ARID1A c.5698G>A p.D1900N Substitution - Missense Urinary_tract COSM268022 SETD2 c.5354C>T p.P1785L Substitution - Missense Large_intestine COSM259670 BRPF3 c.2898C>T p.I966I Substitution - coding silent Large_intestine COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Large_intestine COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Upper_aerodigestive_tract COSM376345 SUV420H2 c.347T>G p.M116R Substitution - Missense Lung COSM374842 ASH2L c.1371C>T p.S457S Substitution - coding silent Lung COSM371775 GTF3C1 c.2138_2139GG>TT p.R713>? Complex Lung COSM389292 SIRT2 c.948-2A>T p.? Unknown Lung COSM394505 MBD4 c.501A>G p.L167L Substitution - coding silent Lung COSM431722 ING4 c.349G>A p.E117K Substitution - Missense Breast COSM457084 HCFC1 c.1273C>T p.R425W Substitution - Missense Oesophagus COSM457720 KDM5C c.483T>G p.V161V Substitution - coding silent Breast COSM452682 KMT2C c.11633_11634insAGA p.M3878>IE Complex - insertion inframe Breast COSM463499 TDRD5 c.1975G>C p.V659L Substitution - Missense Kidney COSM465982 KAT6B c.4750A>T p.I1584F Substitution - Missense Kidney COSM467142 MTA2 c.222G>C p.G74G Substitution - coding silent Kidney COSM468442 KMT2D c.4939A>G p.S1647G Substitution - Missense Kidney COSM469808 PRMT5 c.1223A>T p.E408V Substitution - Missense Kidney COSM987911 ASXL3 c.1527G>T p.K509N Substitution - Missense Endometrium COSM983289 BPTF c.1724delA p.T576fs*47 Deletion - Frameshift Endometrium COSM987433 SMCHD1 c.3667C>T p.P1223S Substitution - Missense Endometrium COSM486633 PRDM14 c.620A>G p.Y207C Substitution - Missense Kidney COSM688082 PHF21A c.1208G>A p.G403E Substitution - Missense Lung COSM691513 HCFC2 c.1333G>T p.E445* Substitution - Nonsense Lung COSM941773 BAZ2A c.1823G>A p.R608Q Substitution - Missense Endometrium COSM939986 KMT2D c.14507G>A p.R4836H Substitution - Missense Upper_aerodigestive_tract COSM1026311 PHF20 c.1664G>A p.C555Y Substitution - Missense Endometrium COSM1021278 MSH6 c.2694T>C p.P898P Substitution - coding silent Endometrium COSM1019150 NCOA1 c.2271G>T p.E757D Substitution - Missense Endometrium COSM703465 CHD9 c.6450C>T p.S2150S Substitution - coding silent Lung COSM711011 GATAD2A c.1119C>A p.R373R Substitution - coding silent Lung COSM911675 PHF13 c.461G>A p.S154N Substitution - Missense Endometrium COSM907765 ARID1A c.6762C>G p.Y2254* Substitution - Nonsense Liver COSM932712 EED c.806G>T p.R269I Substitution - Missense Endometrium COSM934209 TDG c.1224C>T p.S408S Substitution - coding silent Endometrium COSM934530 PRDM4 c.145G>T p.G49C Substitution - Missense Endometrium COSM936036 KDM2B c.2131G>A p.A711T Substitution - Missense Endometrium COSM895001 PRDM2 c.338T>C p.L113S Substitution - Missense Endometrium COSM999077 UHRF1 c.382G>A p.A128T Substitution - Missense Endometrium COSM1070998 BRD9 c.1488G>A p.A496A Substitution - coding silent Endometrium COSM961542 MGA c.8726G>A p.R2909Q Substitution - Missense Endometrium COSM969256 GTF3C1 c.3151+2T>A p.? Unknown Endometrium COSM1078036 PHF1 c.331C>T p.R111C Substitution - Missense Endometrium COSM971431 CHD9 c.5665G>A p.A1889T Substitution - Missense Stomach COSM1074205 SHPRH c.1717C>T p.R573C Substitution - Missense Endometrium COSM1060222 LMNB1 c.675G>A p.T225T Substitution - coding silent Lung COSM1215050 MGMT c.382C>T p.R128* Substitution - Nonsense Large_intestine COSM1160966 HELLS c.236C>T p.S79F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1187374 TRRAP c.8989A>T p.S2997C Substitution - Missense Lung COSM1188795 BAZ1A c.2642A>G p.Q881R Substitution - Missense Lung COSM1173274 MLL5 c.2275C>T p.R759C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1307404 CHD6 c.4939C>G p.Q1647E Substitution - Missense Urinary_tract COSM1299786 CHD4 c.4621C>G p.P1541A Substitution - Missense Urinary_tract COSM1475829 SUV420H1 c.1922C>T p.A641V Substitution - Missense Breast COSM1489360 CHD7 c.6739G>T p.D2247Y Substitution - Missense Breast COSM1478105 MGA c.6194C>T p.T2065I Substitution - Missense Breast COSM1495275 TCF20 c.5254C>T p.R1752W Substitution - Missense Kidney COSM1631778 IDH1 c.1135T>G p.C379G Substitution - Missense Liver COSM1640606 RAI1 c.2589G>A p.E863E Substitution - coding silent Stomach COSM1678952 JMJD5 c.1250A>G p.*417W Nonstop extension Large_intestine COSM1641051 CARM1 c.228_229insTG p.V77fs*49 Insertion - Frameshift Stomach COSM1698421 STK31 c.1076A>G p.Y359C Substitution - Missense Skin COSM1697565 PHIP c.2348T>G p.L783R Substitution - Missense Skin COSM1756194 KDM4C c.2723A>C p.Y908S Substitution - Missense Urinary_tract COSM1756776 KDM5A c.2233C>T p.R745C Substitution - Missense Urinary_tract COSM1936446 BAZ2A c.5473C>T p.R1825* Substitution - Nonsense Stomach COSM2230103 PRDM2 c.1798_1801delTGTC p.L601fs*12 Deletion - Frameshift Large_intestine COSM2221617 EED c.376T>C p.C126R Substitution - Missense Large_intestine COSM2261793 YY1 c.422G>A p.G141D Substitution - Missense Large_intestine COSM2732580 PHF2 c.353T>C p.M118T Substitution - Missense Large_intestine COSM2920037 CREBBP c.1717A>G p.T573A Substitution - Missense Large_intestine COSM3388266 CBX2 c.1569C>T p.S523S Substitution - coding silent Pancreas COSM3388410 AP001011.3_ENST00000320876 c.1648-1G>T p.? Unknown Pancreas COSM3409223 WHSC1 c.3798C>A p.S1266S Substitution - coding silent Central_nervous_system COSM3461571 KMT2D c.6132C>T p.T2044T Substitution - coding silent Skin COSM3633856 TRIM24 c.2227G>A p.E743K Substitution - Missense Skin COSM3589840 MECOM c.2729G>A p.G910E Substitution - Missense Skin COSM3547196 NCOA5 c.1656T>G p.P552P Substitution - coding silent Skin COSM3657071 KIAA1045 c.650C>T p.S217F Substitution - Missense Skin COSM3686369 ATAD2 c.640-3delT p.? Unknown Large_intestine COSM3707811 ZMYND8 c.1879G>A p.E627K Substitution - Missense Liver COSM3733889 KDM6A c.1831C>T p.Q611* Substitution - Nonsense Pancreas COSM3736831 GABRG1 c.121G>A p.D41N Substitution - Missense Urinary_tract COSM3869979 KDM2A c.3445C>T p.L1149F Substitution - Missense Skin COSM3941849 PHIP c.4189C>G p.P1397A Substitution - Missense Oesophagus COSM3940821 ING2 c.398G>A p.R133Q Substitution - Missense Oesophagus COSM3926686 TAF1L c.926C>T p.S309F Substitution - Missense Skin COSM3879573 KMT2C c.6196C>T p.R2066* Substitution - Nonsense Stomach COSM3974269 PHC3 c.2787A>G p.G929G Substitution - coding silent Central_nervous_system COSM4041575 KDM5A c.4820A>G p.E1607G Substitution - Missense Stomach COSM4036080 SUV420H1 c.2648T>G p.L883R Substitution - Missense Stomach COSM4110913 TAF1 c.4364A>C p.N1455T Substitution - Missense Stomach COSM4075949 GATAD2A c.1306G>A p.A436T Substitution - Missense Stomach COSM4128850 GTF3C1 c.5876T>C p.F1959S Substitution - Missense Thyroid COSM4381083 KMT2D c.4018C>T p.Q1340* Substitution - Nonsense Soft_tissue COSM4384602 KMT2A c.6364C>T p.P2122S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4385125 ASXL1 c.3377A>G p.H1126R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4391414 BAHCC1 c.3966G>A p.R1322R Substitution - coding silent Breast COSM4395908 JHDM1D c.1149G>A p.E383E Substitution - coding silent Skin COSM4596849 FTO c.1418G>A p.R473Q Substitution - Missense Upper_aerodigestive_tract COSM4415207 BAZ2A c.52A>G p.R18G Substitution - Missense Large_intestine COSM4575438 KMT2D c.14280T>G p.R4760R Substitution - coding silent Bone COSM4496834 ZGPAT c.483C>T p.G161G Substitution - coding silent Skin COSM4517821 EP300 c.4354_4355CC>TT p.P1452F Substitution - Missense Skin COSM4580995 DPF1 c.876C>T p.N292N Substitution - coding silent Bone COSM4500526 KMT2C c.5681C>T p.P1894L Substitution - Missense Skin COSM4509061 DHX30 c.795C>T p.L265L Substitution - coding silent Skin COSM4456528 ORC1 c.1012C>T p.P338S Substitution - Missense Skin COSM4479056 BAZ2B c.228C>T p.V76V Substitution - coding silent Skin COSM4476362 HDAC4 c.2062C>T p.R688C Substitution - Missense Skin COSM4720041 RAG2 c.1524delA p.G509fs*6 Deletion - Frameshift Large_intestine COSM4725145 SETD1A c.3947G>A p.R1316Q Substitution - Missense Large_intestine COSM4689974 HELLS c.2266C>T p.Q756* Substitution - Nonsense Large_intestine COSM4693796 JARID2 c.505C>T p.L169L Substitution - coding silent Large_intestine COSM4693821 JHDM1D c.2046A>G p.E682E Substitution - coding silent Large_intestine COSM4767663 NCOR1 c.512C>T p.A171V Substitution - Missense Biliary_tract COSM4669566 CBX4 c.1587G>T p.S529S Substitution - coding silent Large_intestine COSM4638679 TDRKH c.1056G>C p.L352F Substitution - Missense Large_intestine COSM4761779 BRD3 c.679G>A p.V227I Substitution - Missense Stomach COSM4754819 KMT2D c.4189G>A p.V1397I Substitution - Missense Stomach COSM4788054 GABRG1 c.65G>T p.R22M Substitution - Missense Liver COSM4798751 MTA1 c.1713C>T p.V571V Substitution - coding silent Liver COSM4843633 SIRT2 c.911G>A p.G304E Substitution - Missense Cervix COSM4953991 EYA1 c.1371T>A p.G457G Substitution - coding silent Liver COSM4957300 ACTA1 c.429C>T p.S143S Substitution - coding silent Liver COSM4957405 SETD7 c.790G>C p.G264R Substitution - Missense Liver COSM4984989 HNF1A c.1460G>A p.S487N Substitution - Missense Soft_tissue COSM4972772 CREBBP c.1095delT p.H365fs*24 Deletion - Frameshift Oesophagus COSM5055239 NCOR1 c.5951C>A p.P1984Q Substitution - Missense Stomach COSM5163004 EHMT2 c.884C>T p.T295I Substitution - Missense Large_intestine COSM5038751 CHD7 c.8858_8876del19 p.L2953fs*13 Deletion - Frameshift Liver COSM5345298 SMARCD3 c.714G>A p.T238T Substitution - coding silent Large_intestine COSM5413601 KMT2D c.31A>G p.K11E Substitution - Missense Prostate COSM5394455 MBD5 c.1872C>T p.F624F Substitution - coding silent Skin COSM5377801 PYGO2 c.274C>T p.P92S Substitution - Missense Skin COSM5365703 UHRF1 c.7G>T p.V3F Substitution - Missense Large_intestine COSM5481076 BAZ2A c.2704A>G p.K902E Substitution - Missense Large_intestine COSM5482356 BRWD3 c.914+6T>C p.? Unknown Large_intestine COSM5487440 SUV420H1 c.2434C>T p.R812* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5433864 KDM6B c.1427T>C p.L476P Substitution - Missense Oesophagus COSM5446982 KDM4D c.633T>G p.T211T Substitution - coding silent Large_intestine COSM5758954 MYST2 c.758C>T p.P253L Substitution - Missense Bone COSM5756656 NIPBL c.3518A>C p.K1173T Substitution - Missense Large_intestine COSM5719320 PRMT6 c.931G>A p.D311N Substitution - Missense Skin COSM5723305 KDM5C c.2341C>T p.L781L Substitution - coding silent Skin COSM5602885 BAHCC1 c.2483C>T p.P828L Substitution - Missense Skin COSM5593413 TDRD6 c.1155G>A p.G385G Substitution - coding silent Skin COSM5596291 ARID4A c.644C>T p.S215L Substitution - Missense Skin COSM5606450 CREBBP c.3862C>T p.R1288W Substitution - Missense Skin COSM5714780 SETD6 c.575T>C p.L192P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5687538 RAI1 c.4996C>A p.L1666I Substitution - Missense Soft_tissue COSM5704374 ATF7IP c.2069+1G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5708584 TBL1XR1 c.931G>C p.A311P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5569690 BPTF c.8400G>A p.T2800T Substitution - coding silent Prostate COSM5794644 ACTR6 c.329A>G p.N110S Substitution - Missense Breast COSM5792146 TTF2 c.2236C>T p.R746* Substitution - Nonsense Breast COSM5944302 MLL5 c.3412delA p.N1138fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5921264 SMYD4 c.413C>T p.P138L Substitution - Missense Skin COSM5964575 BAHCC1 c.1294G>A p.D432N Substitution - Missense Breast COSM5989486 RERE c.4502G>C p.R1501P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5970389 RSF1 c.3965C>T p.A1322V Substitution - Missense Upper_aerodigestive_tract COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM131566 IDH2 c.? p.R172G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM132980 ASXL1 c.? p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM132969 ASXL1 c.? p.L823* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM52961 DNMT3A c.? p.R729Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Bone COSM4767406 MEN1 c.?_?del? p.G111fs*? Deletion - Frameshift Thyroid COSM1169609 TET2 c.? p.T1114I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52801 PBRM1 c.1764delA p.D589fs*2 Deletion - Frameshift Kidney COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5347228 ARID1A c.?_?del? p.N1070fs*? Deletion - Frameshift Endometrium COSM421364 DAXX c.1897C>T p.R633W Substitution - Missense Urinary_tract COSM999839 KDM4B c.2374G>A p.A792T Substitution - Missense Endometrium COSM21481 HNF1A c.872_873insC p.G292fs*25 Insertion - Frameshift Liver COSM1726540 ASXL3 c.832A>T p.K278* Substitution - Nonsense Liver COSM4766113 TET2 c.3088C>T p.Q1030* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3371770 ZGPAT c.141C>G p.I47M Substitution - Missense Thyroid COSM5646309 SETBP1 c.2424C>G p.L808L Substitution - coding silent Oesophagus COSM4987636 EPC2 c.614A>G p.N205S Substitution - Missense Soft_tissue COSM1754404 PRDM1 c.540G>A p.L180L Substitution - coding silent Urinary_tract COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM3724227 ZCWPW1 c.1754C>T p.A585V Substitution - Missense Upper_aerodigestive_tract COSM253080 PYGO1 c.50-3delT p.? Unknown Biliary_tract COSM258130 TAF1L c.3659A>C p.K1220T Substitution - Missense Large_intestine COSM4835821 ZCWPW2 c.223G>A p.E75K Substitution - Missense Cervix COSM6012472 L3MBTL3 c.48C>A p.F16L Substitution - Missense Skin COSM3359031 KMT2A c.6485T>A p.L2162* Substitution - Nonsense Kidney COSM132992 ARID1A c.6259G>A p.G2087R Substitution - Missense Oesophagus COSM5984348 PHF20 c.2406C>A p.S802R Substitution - Missense Upper_aerodigestive_tract COSM1663335 PBRM1 c.2627G>A p.R876H Substitution - Missense Pancreas COSM1220348 PHF15 c.1024G>A p.G342S Substitution - Missense Large_intestine COSM41644 TET2 c.1648C>T p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4643040 L3MBTL3 c.384C>T p.N128N Substitution - coding silent Large_intestine COSM5149793 LMNB2 c.97C>G p.L33V Substitution - Missense Large_intestine COSM937148 EP400 c.2429G>A p.R810H Substitution - Missense Soft_tissue COSM983319 BPTF c.3430G>T p.D1144Y Substitution - Missense Endometrium COSM401771 SETBP1 c.172G>T p.E58* Substitution - Nonsense Lung COSM4476287 BAZ2B c.2056C>T p.L686F Substitution - Missense Skin COSM919612 SIRT1 c.1208C>T p.P403L Substitution - Missense Endometrium COSM470605 RTF1 c.605A>G p.K202R Substitution - Missense Kidney COSM4165713 PRDM10 c.3G>T p.M1I Substitution - Missense Kidney COSM4793125 MECOM c.1893A>T p.R631S Substitution - Missense Liver COSM1088804 CBX3 c.93C>T p.V31V Substitution - coding silent Prostate COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM5892145 PHRF1 c.1207G>T p.V403F Substitution - Missense Skin COSM4170089 PRDM1 c.1618_1619insA p.C541fs*56 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3026867 CBX3 c.21A>G p.T7T Substitution - coding silent Large_intestine COSM3563152 TAF1 c.2503C>T p.P835S Substitution - Missense Skin COSM1635198 KMT2C c.2185A>G p.N729D Substitution - Missense Upper_aerodigestive_tract COSM5980245 CHD4 c.3497A>G p.N1166S Substitution - Missense Upper_aerodigestive_tract COSM43504 TET2 c.2290_2291insC p.Q764fs*5 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1634825 TDRD6 c.3510T>G p.S1170R Substitution - Missense Liver COSM5575916 ATRX c.3848A>G p.N1283S Substitution - Missense Stomach COSM163449 PHF23 c.1161G>T p.L387L Substitution - coding silent Breast COSM994274 LMNB2 c.1629C>T p.V543V Substitution - coding silent Endometrium COSM5457063 PBRM1 c.232C>T p.R78* Substitution - Nonsense Large_intestine COSM4603590 KMT2C c.2448_2449insA p.I817fs*11 Insertion - Frameshift Upper_aerodigestive_tract COSM234844 KDM4C c.2778C>T p.I926I Substitution - coding silent Skin COSM1473574 ACTA1 c.1006G>A p.E336K Substitution - Missense Breast COSM322833 PRMT8 c.127G>T p.V43L Substitution - Missense Lung COSM3911311 CHD6 c.7060C>T p.P2354S Substitution - Missense Skin COSM23002 MEN1 c.981C>G p.Y327* Substitution - Nonsense Parathyroid COSM4443185 PRDM16 c.3271C>T p.R1091* Substitution - Nonsense Large_intestine COSM4878237 TAF1 c.3105A>G p.E1035E Substitution - coding silent Prostate COSM53303 SMARCB1 c.842G>A p.W281* Substitution - Nonsense Soft_tissue COSM3380262 BRWD3 c.534G>T p.G178G Substitution - coding silent Pancreas COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM4771379 TAF1L c.4175C>A p.S1392Y Substitution - Missense Pleura COSM920534 KAT6B c.4344C>A p.S1448R Substitution - Missense Endometrium COSM4725211 SETDB1 c.3680G>A p.S1227N Substitution - Missense Large_intestine COSM3782851 ALKBH1 c.844A>G p.S282G Substitution - Missense Prostate COSM5908157 SP100 c.53C>T p.S18L Substitution - Missense Skin COSM4073750 DNMT1 c.2557T>C p.S853P Substitution - Missense Stomach COSM4591229 BAZ1A c.2116G>A p.E706K Substitution - Missense Upper_aerodigestive_tract COSM991722 MUM1 c.1076G>A p.R359K Substitution - Missense Endometrium COSM3304644 KMT2C c.947C>A p.T316N Substitution - Missense Breast COSM4973818 NSD1 c.6275C>T p.T2092M Substitution - Missense Oesophagus COSM4732915 TDRD6 c.4111C>T p.R1371C Substitution - Missense Large_intestine COSM894172 TRIM33 c.3016G>A p.V1006M Substitution - Missense Endometrium COSM100053 TET2 c.2656C>T p.Q886* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM88744 CREBBP c.4507T>C p.Y1503H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM404207 HCFC1 c.3735G>T p.T1245T Substitution - coding silent Lung COSM3096259 HDAC8 c.91C>T p.L31L Substitution - coding silent Large_intestine COSM4895306 GABRG1 c.1000G>A p.D334N Substitution - Missense Skin COSM4060215 SRCAP c.9079C>T p.R3027C Substitution - Missense Stomach COSM4101440 SETD4 c.1321T>C p.*441R Nonstop extension Stomach COSM1330330 ATAD2 c.2689G>C p.D897H Substitution - Missense Ovary COSM4777517 IDH2 c.1256T>C p.I419T Substitution - Missense Liver COSM1669318 BAZ2B c.2104G>T p.G702C Substitution - Missense Large_intestine COSM42089 TET2 c.1716_1716delT p.H573fs*7 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM255129 MEN1 c.499_523del25 p.A167fs*10 Deletion - Frameshift Parathyroid COSM292383 CHD6 c.2847A>G p.K949K Substitution - coding silent Large_intestine COSM249779 TET2 c.4527_4527delA p.K1509fs*62 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM285354 SRCAP c.6921A>G p.E2307E Substitution - coding silent Large_intestine COSM5946858 PYGO1 c.951C>A p.C317* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4232590 LBR c.902C>T p.A301V Substitution - Missense Upper_aerodigestive_tract COSM5708836 PBRM1 c.2402G>A p.S801N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3467910 RNF17 c.1789G>A p.E597K Substitution - Missense Skin COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM21288 BRD3 c.71delC p.P24fs*24 Deletion - Frameshift Large_intestine COSM5966047 PHF3 c.1865C>G p.S622C Substitution - Missense Breast COSM4042326 KMT2D c.15361C>T p.L5121L Substitution - coding silent Stomach COSM3944103 KDM4A c.138+6G>T p.? Unknown Ovary COSM5919068 PHIP c.1819C>T p.P607S Substitution - Missense Skin COSM1493625 MYST1 c.879G>A p.R293R Substitution - coding silent Large_intestine COSM51475 ARID1A c.4582C>T p.R1528* Substitution - Nonsense Endometrium COSM3080621 ACTL6B c.695delC p.P232fs*24 Deletion - Frameshift Large_intestine COSM5511475 ARID1A c.2653delC p.P886fs*5 Deletion - Frameshift Biliary_tract COSM4131185 SMARCA4 c.1524T>C p.H508H Substitution - coding silent Soft_tissue COSM1615879 ZGPAT c.249G>A p.R83R Substitution - coding silent Liver COSM3622174 JARID2 c.1429G>A p.E477K Substitution - Missense Skin COSM3895049 BAZ2B c.5107G>A p.D1703N Substitution - Missense Skin COSM6008975 KMT2C c.1013-1G>A p.? Unknown Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM252979 CLOCK c.368delT p.L123fs*1 Deletion - Frameshift Stomach COSM5346608 CREBBP c.4275C>G p.N1425K Substitution - Missense Urinary_tract COSM5986195 SETD2 c.237C>G p.I79M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1717688 SMARCC2 c.3401A>C p.N1134T Substitution - Missense Urinary_tract COSM3763347 MYST3 c.4455C>T p.S1485S Substitution - coding silent Soft_tissue COSM6008552 NCOA6 c.3070C>T p.Q1024* Substitution - Nonsense Prostate COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1235025 PHF6 c.461_462delCA p.S154fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2235449 ARID1A c.2102G>C p.G701A Substitution - Missense Large_intestine COSM4038328 PRDM4 c.1900C>T p.R634W Substitution - Missense Stomach COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM479025 TCF20 c.2738G>C p.G913A Substitution - Missense Kidney COSM288679 MSH6 c.3964G>T p.E1322* Substitution - Nonsense Large_intestine COSM1323220 INOC1 c.2280G>C p.E760D Substitution - Missense Ovary COSM3783408 SP100 c.1790A>G p.N597S Substitution - Missense Prostate COSM249343 PRDM16 c.518G>A p.R173H Substitution - Missense Kidney COSM276733 PHIP c.1036C>T p.R346W Substitution - Missense Large_intestine COSM144497 IDH2 c.? p.R172T Substitution - Missense Soft_tissue COSM3076007 BRPF3 c.3430A>G p.T1144A Substitution - Missense Large_intestine COSM20998 TAF1 c.983_988delTAGATA p.I328_K330>K Complex - deletion inframe Breast COSM345804 EYA4 c.1252G>A p.D418N Substitution - Missense Lung COSM5786777 SMYD2 c.618T>G p.N206K Substitution - Missense Breast COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1639544 HDGF c.303+6C>A p.? Unknown Stomach COSM3762398 TIF1 c.2487A>G p.G829G Substitution - coding silent Soft_tissue COSM1538064 SETD2 c.2993G>C p.C998S Substitution - Missense Kidney COSM4628427 NIPBL c.6982A>G p.T2328A Substitution - Missense Large_intestine COSM914347 ASXL1 c.? p.T655fs*2 Unknown Haematopoietic_and_lymphoid_tissue COSM4714179 PHRF1 c.2944_2945delAG p.R982fs*41 Deletion - Frameshift Large_intestine COSM1448541 JHDM1D c.1317A>T p.L439F Substitution - Missense Large_intestine COSM3804822 ARID1A c.5619C>T p.P1873P Substitution - coding silent Breast COSM302732 NCOA6 c.795A>G p.Q265Q Substitution - coding silent Urinary_tract COSM1301960 CREBBP c.2080G>C p.V694L Substitution - Missense Urinary_tract COSM5415411 PRDM2 c.1149A>G p.I383M Substitution - Missense Prostate COSM4013336 BMI1 c.649A>T p.R217W Substitution - Missense Stomach COSM5473125 PRDM2 c.456T>C p.I152I Substitution - coding silent Large_intestine COSM4826843 TP53BP1 c.2264G>T p.S755I Substitution - Missense Cervix COSM1664458 TAF1 c.3349C>A p.L1117I Substitution - Missense Kidney COSM1125442 ATRX c.4336G>T p.E1446* Substitution - Nonsense Endometrium COSM4884240 SUV39H1 c.1133G>T p.R378L Substitution - Missense Upper_aerodigestive_tract COSM2911423 NCOA1 c.2509G>T p.D837Y Substitution - Missense Large_intestine COSM1019229 DNMT3A c.2058C>T p.D686D Substitution - coding silent Endometrium COSM259658 BPTF c.2455G>T p.E819* Substitution - Nonsense Large_intestine COSM4061540 SETD6 c.311C>T p.A104V Substitution - Missense Stomach COSM3754332 TP53BP1 c.1234G>A p.G412S Substitution - Missense Soft_tissue COSM382066 SMARCA4 c.2338G>A p.E780K Substitution - Missense Lung COSM5707672 EP300 c.1542G>T p.M514I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4822330 PRDM2 c.2541C>G p.V847V Substitution - coding silent Cervix COSM480292 BAP1 c.122+2T>C p.? Unknown Kidney COSM5178868 SMARCD2 c.1017C>T p.V339V Substitution - coding silent Large_intestine COSM2687777 NIPBL c.1235G>A p.R412H Substitution - Missense Pancreas COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1290530 BRD7 c.1019T>C p.F340S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM685487 SFMBT2 c.2633G>C p.C878S Substitution - Missense Lung COSM1377475 SRCAP c.5626delC p.P1878fs*89 Deletion - Frameshift Biliary_tract COSM5884304 L3MBTL3 c.223T>A p.S75T Substitution - Missense Large_intestine COSM42016 TET2 c.4393C>T p.R1465* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1965110 KAT6B c.2235A>G p.L745L Substitution - coding silent Large_intestine COSM5370100 TDRD1 c.144T>G p.P48P Substitution - coding silent Skin COSM5567213 KDM2A c.312T>G p.S104R Substitution - Missense Prostate COSM4468014 PHF21A c.1382C>T p.S461F Substitution - Missense Skin COSM3174798 SIRT5 c.929C>T p.S310F Substitution - Missense Skin COSM4389045 NIPBL c.6143C>T p.A2048V Substitution - Missense Pancreas COSM5137117 ACTR6 c.40A>G p.K14E Substitution - Missense Large_intestine COSM1158854 EPC1 c.1273T>G p.W425G Substitution - Missense Pancreas COSM3361052 BRDT c.1131G>A p.P377P Substitution - coding silent Skin COSM3194753 AKAP1 c.1043C>T p.A348V Substitution - Missense Large_intestine COSM4449347 PHF12 c.2090-1G>A p.? Unknown Skin COSM1672348 BRPF3 c.143G>A p.R48H Substitution - Missense Large_intestine COSM918651 ERCC6 c.4267G>T p.E1423* Substitution - Nonsense Endometrium COSM2866901 TRRAP c.11148C>T p.S3716S Substitution - coding silent Skin COSM5952304 PRDM12 c.170C>T p.A57V Substitution - Missense Oesophagus COSM5004724 MTA1 c.1939C>T p.R647W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1078018 DAXX c.1365G>T p.E455D Substitution - Missense Endometrium COSM1045469 SETD2 c.2978G>A p.R993Q Substitution - Missense Endometrium COSM3406485 PHF8 c.820G>C p.A274P Substitution - Missense Central_nervous_system COSM436135 RAI1 c.832_843del12 p.Q278_Q281delQQQQ Deletion - In frame Upper_aerodigestive_tract COSM900304 TDRD5 c.2130A>G p.P710P Substitution - coding silent Endometrium COSM1299021 KDM2B c.1027G>T p.E343* Substitution - Nonsense Urinary_tract COSM5497420 SETD1A c.523C>T p.Q175* Substitution - Nonsense Biliary_tract COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM739894 PRDM13 c.2053G>T p.D685Y Substitution - Missense Lung COSM4566005 DNMT1 c.2826_2827CC>TT p.P943S Substitution - Missense Skin COSM4043884 MBD6 c.838G>A p.A280T Substitution - Missense Biliary_tract COSM5006580 SETD2 c.?_?del? p.?fs Deletion - Frameshift Kidney COSM1166637 NSD1 c.5912A>G p.Y1971C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2175139 SIRT4 c.550C>T p.R184C Substitution - Missense Upper_aerodigestive_tract COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM3751837 ERCC6 c.3289A>G p.M1097V Substitution - Missense Large_intestine COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM435238 CREBBP c.2390_2391insA p.N797fs*35 Insertion - Frameshift Breast COSM4163513 WDR5 c.951C>G p.A317A Substitution - coding silent Thyroid COSM3203561 MECOM c.2180G>A p.R727Q Substitution - Missense Prostate COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4455042 BAZ2B c.6486A>T p.T2162T Substitution - coding silent Skin COSM4633914 ARID4A c.1169G>T p.R390I Substitution - Missense Large_intestine COSM1685937 MECOM c.692C>T p.S231F Substitution - Missense Skin COSM1423562 SETD2 c.2764A>C p.K922Q Substitution - Missense Large_intestine COSM3615934 NIPBL c.1486C>T p.Q496* Substitution - Nonsense Skin COSM1718171 BRPF1 c.1971C>T p.V657V Substitution - coding silent Skin COSM1474590 EPC1 c.2495C>T p.A832V Substitution - Missense Breast COSM126925 SIRT7 c.1025C>G p.S342* Substitution - Nonsense Upper_aerodigestive_tract COSM456627 ZBTB33 c.2014_2015insTA p.Y672fs*>2 Insertion - Frameshift Breast COSM5557399 IDH2 c.181A>G p.I61V Substitution - Missense Prostate COSM5510138 ATAT1 c.409C>T p.R137* Substitution - Nonsense Biliary_tract COSM3831977 TRIM24 c.794A>T p.N265I Substitution - Missense Breast COSM4074042 SMARCA4 c.2697G>A p.T899T Substitution - coding silent Stomach COSM2270790 MGA c.2246G>A p.G749E Substitution - Missense Skin COSM5020138 BAP1 c.1002A>G p.L334L Substitution - coding silent Soft_tissue COSM5756809 ARID1B c.4192C>T p.R1398C Substitution - Missense Large_intestine COSM5078361 KIAA1045 c.706C>T p.R236C Substitution - Missense Large_intestine COSM5083074 MINA c.849C>G p.D283E Substitution - Missense Large_intestine COSM4170052 TET2 c.4139A>T p.H1380L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1103017 TDRD7 c.3224C>T p.S1075L Substitution - Missense Endometrium COSM3369855 RERE c.1130G>A p.G377D Substitution - Missense Thyroid COSM5130358 SMARCD2 c.841C>T p.L281F Substitution - Missense Large_intestine COSM225885 KMT2C c.1139G>T p.R380L Substitution - Missense Skin COSM144592 DNMT3A c.? p.R792C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5945898 DNMT3A c.887T>G p.V296G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5664030 BAZ2A_ENST00000379441 c.1955G>T p.R652L Substitution - Missense Soft_tissue COSM1749638 BRD7 c.745G>C p.D249H Substitution - Missense Urinary_tract COSM345422 ZBTB38 c.555G>C p.L185F Substitution - Missense Cervix COSM1609697 CDYL2 c.40G>T p.D14Y Substitution - Missense Liver COSM4445558 CCDC101 c.567-3C>T p.? Unknown Skin COSM4444176 PHF2 c.692C>A p.P231H Substitution - Missense Large_intestine COSM3642832 TRRAP c.9528T>C p.L3176L Substitution - coding silent Skin COSM5487677 EP300 c.3491G>A p.C1164Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1682028 AIRE c.1546C>A p.L516M Substitution - Missense Large_intestine COSM468713 MBD6 c.920C>T p.A307V Substitution - Missense Kidney COSM4042320 KMT2D c.15637G>A p.A5213T Substitution - Missense Stomach COSM1307786 BRWD1 c.4449G>A p.R1483R Substitution - coding silent Urinary_tract COSM1624904 TAF1L c.3624T>C p.A1208A Substitution - coding silent Liver COSM919491 JMJD1C c.2528A>G p.H843R Substitution - Missense Endometrium COSM1742809 ASH1L c.363A>C p.K121N Substitution - Missense Biliary_tract COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5366107 ZMYND8 c.3249G>A p.T1083T Substitution - coding silent Large_intestine COSM1072315 HDAC2 c.842-10_842-8delCTT p.? Unknown Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM465866 SIRT1 c.877C>T p.P293S Substitution - Missense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5945123 EZH2 c.1642T>C p.C548R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5392062 CHD6 c.7158G>A p.R2386R Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4750243 ATF7IP c.1211C>T p.A404V Substitution - Missense Stomach COSM353795 KDM2B c.1704G>A p.E568E Substitution - coding silent Lung COSM318947 BRPF1 c.1361G>T p.R454L Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1754254 NIPBL c.834A>G p.V278V Substitution - coding silent Urinary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM6006412 KDM6A c.4176_4177insGG p.A1393fs*11 Insertion - Frameshift Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3525405 ASXL3 c.5G>A p.G2E Substitution - Missense Skin COSM941776 BAZ2A c.1814G>A p.G605D Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3533597 SIRT2 c.120C>T p.F40F Substitution - coding silent Skin COSM895833 POGZ c.1650A>G p.E550E Substitution - coding silent Endometrium COSM222690 MSH6 c.2270C>T p.T757I Substitution - Missense Skin COSM221150 KMT2D c.7508_7509insCGACTCT p.R2504fs*73 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3707005 SRCAP c.598A>G p.K200E Substitution - Missense Liver COSM5879005 TET2 c.3247C>T p.Q1083* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1755470 ZCWPW1 c.118G>A p.E40K Substitution - Missense Urinary_tract COSM216423 SMCHD1 c.1284C>T p.V428V Substitution - coding silent Pancreas COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1491268 HDAC8 c.937C>T p.R313* Substitution - Nonsense Skin COSM238023 PRMT3 c.204G>A p.K68K Substitution - coding silent Prostate COSM302137 EP400 c.8181A>G p.Q2727Q Substitution - coding silent Large_intestine COSM128299 KDM1A c.1176C>T p.V392V Substitution - coding silent Upper_aerodigestive_tract COSM4573706 JMJD1C c.1380T>C p.H460H Substitution - coding silent Bone COSM5583764 MGMT c.275-1G>A p.? Unknown Skin COSM1047085 PBRM1 c.3100A>T p.K1034* Substitution - Nonsense Endometrium COSM118676 EHMT1 c.1848C>T p.T616T Substitution - coding silent Ovary COSM1334666 ASH1L c.2134delA p.R712fs*23 Deletion - Frameshift Large_intestine COSM4666104 BRD4 c.1896C>T p.R632R Substitution - coding silent Large_intestine COSM3740444 EP300 c.1303G>A p.V435I Substitution - Missense Liver COSM391248 CHD2 c.3724_3725insA p.Y1246fs*13 Insertion - Frameshift Upper_aerodigestive_tract COSM4973766 TP53BP1 c.1498T>A p.S500T Substitution - Missense Oesophagus COSM972487 CTCF c.1129C>T p.R377C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24924 HNF1A c.1340C>T p.P447L Substitution - Missense Liver COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41717 ASXL1 c.2302C>T p.Q768* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM53270 TET2 c.? p.L1515fs*56 Frameshift Haematopoietic_and_lymphoid_tissue COSM51423 ARID1A c.1644_1645insC p.Y551fs*72 Insertion - Frameshift Ovary COSM53003 EZH2 c.73C>T p.R25* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM77923 JMJD5 c.61G>T p.A21S Substitution - Missense Ovary COSM78112 MTF2 c.1546G>T p.V516L Substitution - Missense Ovary COSM87138 TET2 c.3893G>A p.C1298Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM110503 ASH1L c.3557C>T p.S1186F Substitution - Missense Skin COSM110713 ASXL1 c.2110G>A p.G704R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96413 CREBBP c.2678C>T p.S893L Substitution - Missense Breast COSM130413 ARID1A c.2830C>T p.Q944* Substitution - Nonsense Cervix COSM133732 DNMT3A c.2312G>A p.R771Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Central_nervous_system COSM227525 KMT2C c.2294A>G p.E765G Substitution - Missense Upper_aerodigestive_tract COSM255036 ZMYND8 c.1693C>T p.L565F Substitution - Missense Urinary_tract COSM267719 UBR7 c.838G>A p.A280T Substitution - Missense Large_intestine COSM252374 BAZ1B c.706G>A p.V236M Substitution - Missense Ovary COSM281298 GABRG1 c.85A>G p.T29A Substitution - Missense Large_intestine COSM292660 PHC2 c.2158G>A p.V720M Substitution - Missense Large_intestine COSM312542 LMNB2 c.275G>C p.R92P Substitution - Missense Soft_tissue COSM328952 ARID1A c.3633T>A p.Y1211* Substitution - Nonsense Liver COSM326138 PHF15 c.2266G>C p.G756R Substitution - Missense Lung COSM437705 CBX2 c.939C>T p.S313S Substitution - coding silent Breast COSM432528 TDRD3 c.608delC p.T203fs*21 Deletion - Frameshift Breast COSM465085 BRDT c.143T>C p.F48S Substitution - Missense Kidney COSM477721 KDM3A c.3915A>G p.K1305K Substitution - coding silent Kidney COSM963076 PYGO1 c.634T>G p.F212V Substitution - Missense Endometrium COSM1027504 EYA2 c.860C>T p.T287M Substitution - Missense Large_intestine COSM1021291 MSH6 c.3039G>T p.K1013N Substitution - Missense Endometrium COSM1019138 NCOA1 c.1421C>A p.S474Y Substitution - Missense Endometrium COSM757638 TAF1 c.2879G>T p.G960V Substitution - Missense Lung COSM745377 JHDM1D c.2647G>A p.G883S Substitution - Missense Lung COSM716466 EPC2 c.679G>C p.D227H Substitution - Missense Lung COSM930379 DPF2 c.316C>A p.L106M Substitution - Missense Endometrium COSM934208 TDG c.1123T>G p.F375V Substitution - Missense Endometrium COSM948230 TDRD3 c.965G>A p.R322Q Substitution - Missense Endometrium COSM1034593 L3MBTL2 c.1895G>T p.R632I Substitution - Missense Endometrium COSM1121591 KDM6A c.2657C>A p.S886Y Substitution - Missense Endometrium COSM1080940 PHF3 c.308A>C p.D103A Substitution - Missense Endometrium COSM1240269 SND1 c.2680C>T p.R894C Substitution - Missense Oesophagus COSM1181004 NIPBL c.8320delA p.I2776fs*3 Deletion - Frameshift Large_intestine COSM1184370 KMT2C c.12774G>T p.K4258N Substitution - Missense Large_intestine COSM1215204 KMT2D c.4404G>T p.E1468D Substitution - Missense Large_intestine COSM1187968 KAT6B c.3763G>A p.G1255S Substitution - Missense Lung COSM1161911 KDM5C c.4219delG p.D1407fs*5 Deletion - Frameshift Kidney COSM1188329 SUV420H1 c.268G>A p.D90N Substitution - Missense Skin COSM1315832 EZH2 c.65_66delAG p.E22fs*14 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1316700 DUSP1 c.1065C>A p.S355R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1453142 TRRAP c.833C>T p.A278V Substitution - Missense Large_intestine COSM1608124 SETD3 c.1468C>T p.R490C Substitution - Missense Liver COSM1610277 EZH1 c.389G>A p.C130Y Substitution - Missense Liver COSM1580267 FMR1 c.1016C>T p.P339L Substitution - Missense Central_nervous_system COSM1689314 TDRD5 c.1480G>A p.D494N Substitution - Missense Skin COSM1687442 ZMYM6 c.481C>T p.P161S Substitution - Missense Skin COSM1679603 NCOR1 c.4876A>C p.N1626H Substitution - Missense Large_intestine COSM1659109 BRD1 c.738C>T p.Y246Y Substitution - coding silent Salivary_gland COSM1737374 ZCWPW1 c.1876G>T p.G626W Substitution - Missense Central_nervous_system COSM1749886 RAI1 c.967C>T p.Q323* Substitution - Nonsense Skin COSM1724646 SETD1A c.3127_3129delTCC p.S1058delS Deletion - In frame Skin COSM2153593 PRDM12 c.541G>A p.G181S Substitution - Missense Central_nervous_system COSM2823127 KDM3A c.3200C>A p.A1067D Substitution - Missense Large_intestine COSM2910881 ING5 c.402G>A p.Q134Q Substitution - coding silent Large_intestine COSM3142252 CHD1 c.4641T>A p.D1547E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3296314 EPC2 c.2205T>C p.N735N Substitution - coding silent Upper_aerodigestive_tract COSM3360850 PRDM16 c.920G>A p.R307H Substitution - Missense Kidney COSM3363575 SMARCB1 c.1120C>A p.R374R Substitution - coding silent Kidney COSM3364149 KDM5C c.2143T>G p.F715V Substitution - Missense Kidney COSM3366676 STK31 c.2005G>T p.E669* Substitution - Nonsense Kidney COSM3406573 TAF1 c.4293C>T p.R1431R Substitution - coding silent Central_nervous_system COSM3403489 SMCHD1 c.278G>T p.G93V Substitution - Missense Central_nervous_system COSM3479327 TDRD5 c.2380G>A p.D794N Substitution - Missense Skin COSM3421403 SUZ12 c.1039G>A p.E347K Substitution - Missense Large_intestine COSM3415763 PRMT3 c.1579A>C p.T527P Substitution - Missense Large_intestine COSM3466324 PHC1 c.454C>G p.R152G Substitution - Missense Skin COSM3563158 TAF1 c.5129G>A p.S1710N Substitution - Missense Skin COSM3650685 NCOA2 c.1694C>T p.S565F Substitution - Missense Skin COSM3752792 TRIM66 c.1397A>G p.H466R Substitution - Missense Upper_aerodigestive_tract COSM3786029 PRDM14 c.1184-4A>G p.? Unknown Pancreas COSM3795312 RAI1 c.4167G>A p.Q1389Q Substitution - coding silent Urinary_tract COSM3801842 TDRKH c.1474G>A p.A492T Substitution - Missense Stomach COSM3857242 PRDM1 c.1421G>A p.C474Y Substitution - Missense Stomach COSM3848645 UHRF2 c.316G>C p.G106R Substitution - Missense Breast COSM3840046 INO80B c.478G>A p.E160K Substitution - Missense Breast COSM3906851 TAF1L c.979G>A p.D327N Substitution - Missense Stomach COSM3914010 PHF16 c.1226C>T p.S409F Substitution - Missense Skin COSM3889030 CDYL2 c.936T>A p.D312E Substitution - Missense Skin COSM3945765 BRPF1 c.1413G>T p.E471D Substitution - Missense Lung COSM3955893 CHD8 c.6236C>G p.S2079* Substitution - Nonsense Lung COSM4015132 JMJD1C c.150C>T p.N50N Substitution - coding silent Stomach COSM4049570 MTA1 c.2124C>T p.D708D Substitution - coding silent Stomach COSM3989399 CBX4 c.1555C>G p.P519A Substitution - Missense Kidney COSM4098450 CHD6 c.5212T>C p.S1738P Substitution - Missense Stomach COSM4097603 DNMT3B c.1717C>T p.R573W Substitution - Missense Stomach COSM4059644 GTF3C1 c.4611C>T p.D1537D Substitution - coding silent Stomach COSM4059652 GTF3C1 c.3516C>T p.N1172N Substitution - coding silent Stomach COSM4162018 KMT2C c.2315C>T p.S772L Substitution - Missense Thyroid COSM4161727 PHF14 c.456A>C p.T152T Substitution - coding silent Thyroid COSM4384276 EZH2 c.1673-4G>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4400044 RSF1 c.2398A>T p.R800* Substitution - Nonsense Skin COSM4605343 EP300 c.4230G>T p.R1410S Substitution - Missense Upper_aerodigestive_tract COSM4444149 ATAD2 c.834A>T p.E278D Substitution - Missense Oesophagus COSM4514465 PRMT8 c.975C>T p.S325S Substitution - coding silent Skin COSM4491721 KDM6A c.3856C>T p.P1286S Substitution - Missense Skin COSM4434967 CHD9 c.593A>G p.N198S Substitution - Missense Oesophagus COSM4459723 SMYD4 c.1137C>T p.I379I Substitution - coding silent Skin COSM4717474 PRDM14 c.1285G>A p.D429N Substitution - Missense Large_intestine COSM4729935 SRCAP c.3667G>A p.V1223M Substitution - Missense Large_intestine COSM4674647 CREBBP c.4163C>T p.S1388F Substitution - Missense Large_intestine COSM4714169 PHRF1 c.532_534delGAG p.E181delE Deletion - In frame Large_intestine COSM4626947 KDM4D c.836A>G p.Y279C Substitution - Missense Large_intestine COSM4623071 ORC1 c.1604T>C p.V535A Substitution - Missense Large_intestine COSM4619497 CHD6 c.6649A>G p.M2217V Substitution - Missense Large_intestine COSM4795603 UHRF2 c.1488G>A p.A496A Substitution - coding silent Liver COSM4793909 SMARCC2 c.569G>A p.W190* Substitution - Nonsense Liver COSM4780441 EYA4 c.1291C>A p.Q431K Substitution - Missense Liver COSM4936630 SND1 c.1427A>G p.Y476C Substitution - Missense Liver COSM4854365 INOC1 c.2237G>C p.R746T Substitution - Missense Cervix COSM4877669 RAI1 c.2907C>T p.D969D Substitution - coding silent Prostate COSM4955545 ACTL6B c.782C>A p.A261D Substitution - Missense Liver COSM4951062 MBD1 c.995G>A p.R332H Substitution - Missense Liver COSM5020490 KMT2A c.1810A>G p.M604V Substitution - Missense Soft_tissue COSM5076769 JHDM1D c.1926delT p.F642fs*4 Deletion - Frameshift Large_intestine COSM5352201 RERE c.2450delC p.P817fs*13 Deletion - Frameshift Kidney COSM5382223 BAZ1A c.1925G>A p.R642Q Substitution - Missense Skin COSM5357841 NCOA7 c.289A>G p.T97A Substitution - Missense Large_intestine COSM5418190 ATRX c.5411C>T p.A1804V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5520728 CHD8 c.4828A>G p.I1610V Substitution - Missense Biliary_tract COSM5495950 LMNB2 c.328G>A p.E110K Substitution - Missense Biliary_tract COSM5427550 EZH2 c.2005A>G p.S669G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5636717 AIRE c.612G>C p.G204G Substitution - coding silent Oesophagus COSM5631241 PCGF6 c.414A>G p.K138K Substitution - coding silent Oesophagus COSM5635502 GABRG1 c.1133T>C p.M378T Substitution - Missense Oesophagus COSM5751617 SUZ12 c.700_701insG p.S234fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5751660 SETBP1 c.4073T>CT p.M1358fs*11 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM5761703 ZMYND8 c.1306C>T p.L436L Substitution - coding silent Pancreas COSM5652794 PRDM9 c.66C>T p.P22P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5716146 TDRD10 c.24C>T p.P8P Substitution - coding silent Skin COSM5721980 BAZ2A_ENST00000379441 c.695C>T p.T232I Substitution - Missense Skin COSM5600338 RAI1 c.5001C>T p.S1667S Substitution - coding silent Skin COSM5616940 MBD1 c.663+8G>T p.? Unknown Lung COSM5798719 AKAP1 c.2413G>C p.D805H Substitution - Missense Breast COSM5811285 PHIP c.5111A>G p.D1704G Substitution - Missense Liver COSM5811581 PCGF1 c.563T>A p.V188E Substitution - Missense Liver COSM5820728 TRIM24 c.1974C>G p.V658V Substitution - coding silent Liver COSM5882163 ACTR6 c.989G>C p.R330T Substitution - Missense Large_intestine COSM5945424 ASXL1 c.2779G>T p.G927* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5990312 TRIM66 c.3105A>G p.G1035G Substitution - coding silent Liver COSM5990063 EZH2 c.1060delC p.R354fs*70 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4169553 DNMT3A c.? p.C549* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4169856 ATRX c.? p.T1582fs*24 Unknown Adrenal_gland COSM43413 TET2 c.?_?ins? p.?fs Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM905717 KDM1A c.1926C>T p.C642C Substitution - coding silent Central_nervous_system COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM371386 MBD5 c.280G>A p.E94K Substitution - Missense Lung COSM1344517 RERE c.2475delG p.L826fs*4 Deletion - Frameshift Large_intestine COSM5071907 SMARCC2 c.3128_3129insCC p.G1044fs*18 Insertion - Frameshift Large_intestine COSM3870944 KDM2B c.2011C>T p.P671S Substitution - Missense Skin COSM22381 TIF1 c.2769C>T p.S923S Substitution - coding silent Breast COSM744291 MLL5 c.1902A>G p.E634E Substitution - coding silent Lung COSM919493 JMJD1C c.2477A>T p.E826V Substitution - Missense Endometrium COSM742763 TDRD6 c.5658C>T p.G1886G Substitution - coding silent Stomach COSM3805347 KDM4A c.1318A>C p.T440P Substitution - Missense Breast COSM1325841 BAZ2B c.283C>G p.L95V Substitution - Missense Ovary COSM3396517 MBD4 c.1311A>G p.K437K Substitution - coding silent Prostate COSM1222116 PRMT7 c.1058C>A p.P353H Substitution - Missense Large_intestine COSM5735073 ARID2 c.1026_1027insGA p.L343fs*13 Insertion - Frameshift Pancreas COSM5020054 KMT2D c.11218T>C p.S3740P Substitution - Missense Soft_tissue COSM5414706 NCOA3 c.1473G>T p.K491N Substitution - Missense Breast COSM3422393 SMARCA4 c.2576C>T p.T859M Substitution - Missense Large_intestine COSM132992 ARID1A c.6259G>A p.G2087R Substitution - Missense Endometrium COSM1106296 GTF3C4 c.1616T>G p.L539* Substitution - Nonsense Endometrium COSM3809726 PHRF1 c.2666C>T p.T889I Substitution - Missense Breast COSM1663335 PBRM1 c.2627G>A p.R876H Substitution - Missense Biliary_tract COSM4031505 RBBP4 c.644A>G p.K215R Substitution - Missense Stomach COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1668049 LMNA c.1147G>A p.E383K Substitution - Missense Large_intestine COSM3662831 MLL5 c.612T>A p.T204T Substitution - coding silent Liver COSM4025614 TDRD5 c.1845C>T p.C615C Substitution - coding silent Stomach COSM3528445 SMARCA4 c.4410C>T p.I1470I Substitution - coding silent Skin COSM249685 NCOR1 c.448G>A p.G150R Substitution - Missense Upper_aerodigestive_tract COSM5649551 HDAC9 c.1050C>G p.L350L Substitution - coding silent Oesophagus COSM3824529 ATXN7 c.298G>A p.E100K Substitution - Missense Breast COSM5605107 TDRD5 c.624G>A p.P208P Substitution - coding silent Skin COSM1683716 ADNP c.419_420insCAG p.S141_T142insS Insertion - In frame Ovary COSM285227 SMYD1 c.1098C>A p.A366A Substitution - coding silent Urinary_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM6015258 ZMYM5 c.308C>T p.S103L Substitution - Missense Skin COSM4117705 SETMAR c.723A>G p.V241V Substitution - coding silent Large_intestine COSM136870 PRDM10 c.607C>T p.R203W Substitution - Missense Skin COSM3439589 JMJD1C c.1700C>T p.P567L Substitution - Missense Skin COSM5010037 TRRAP c.5427G>A p.S1809S Substitution - coding silent Large_intestine COSM705619 SUZ12 c.1373G>A p.R458H Substitution - Missense Lung COSM1667291 ARID1A c.5119A>G p.S1707G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM480533 ATXN7 c.2134C>A p.P712T Substitution - Missense Kidney COSM343363 KMT2C c.1058T>A p.L353H Substitution - Missense Lung COSM3783080 AKAP1 c.851C>T p.A284V Substitution - Missense Prostate COSM3711308 ARID1A c.2073C>A p.G691G Substitution - coding silent Upper_aerodigestive_tract COSM1414684 PRMT2 c.400G>A p.E134K Substitution - Missense Large_intestine COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM485537 BAZ1B c.4310T>C p.V1437A Substitution - Missense Kidney COSM729705 FXR1 c.876C>A p.L292L Substitution - coding silent Lung COSM2833320 GLYR1 c.581C>T p.A194V Substitution - Missense Large_intestine COSM87012 DNMT3A c.1903C>T p.R635W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2889221 ASXL1 c.513A>G p.R171R Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM133035 ASXL1 c.2668C>T p.L890F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4527306 PRDM9 c.1454G>A p.G485E Substitution - Missense Skin COSM4591233 NCOR1 c.534G>C p.K178N Substitution - Missense Upper_aerodigestive_tract COSM4385605 TET2 c.4735_4736insA p.Y1579fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3907583 KIAA2026_ENST00000399933 c.1257C>T p.H419H Substitution - coding silent Stomach COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3416348 KDM4D c.1363C>T p.R455C Substitution - Missense Large_intestine COSM2165435 DPF2 c.999C>T p.C333C Substitution - coding silent Large_intestine COSM5648132 ASH1L c.2346G>C p.L782F Substitution - Missense Oesophagus COSM5943951 PBRM1 c.996-5delT p.? Unknown Skin COSM5730244 KIAA2026_ENST00000399933 c.3618_3621delTGAG p.S1206fs*36 Deletion - Frameshift Skin COSM261229 HDAC6 c.134C>A p.P45H Substitution - Missense Large_intestine COSM473495 CHD3 c.3303C>A p.Y1101* Substitution - Nonsense Kidney COSM3064262 BRD1 c.96C>A p.T32T Substitution - coding silent Large_intestine COSM4384610 KMT2A c.7664C>T p.P2555L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM347808 KDM2A c.2715C>G p.L905L Substitution - coding silent Lung COSM4538181 CHD8 c.2511G>A p.E837E Substitution - coding silent Skin COSM5369503 CHD1 c.930C>A p.N310K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1645008 SMARCA2 c.3377C>T p.T1126I Substitution - Missense Salivary_gland COSM3414574 TRIM66 c.3220-4delC p.? Unknown Large_intestine COSM918682 ERCC6 c.184G>A p.A62T Substitution - Missense Endometrium COSM5043378 KDM3B c.2606G>T p.R869L Substitution - Missense Liver COSM1475800 KDM2A c.1063C>T p.Q355* Substitution - Nonsense Breast COSM477204 NCOA1 c.321A>G p.I107M Substitution - Missense Kidney COSM478230 NCOA5 c.1136C>T p.T379I Substitution - Missense Kidney COSM1563118 CREBBP c.3775C>T p.Q1259* Substitution - Nonsense Large_intestine COSM1431298 PRDM8 c.1980G>C p.R660R Substitution - coding silent Liver COSM144890 KMT2D c.3202-4_3202-3delTC p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1307486 NCOA3 c.493G>A p.D165N Substitution - Missense Urinary_tract COSM1265348 SETD6 c.529G>T p.D177Y Substitution - Missense Stomach COSM4581816 CHD6 c.6277A>T p.K2093* Substitution - Nonsense Bone COSM1132364 HCFC1 c.1356T>G p.A452A Substitution - coding silent Prostate COSM944338 PHC1 c.1893G>A p.P631P Substitution - coding silent Endometrium COSM4408754 RING1 c.209C>T p.S70F Substitution - Missense Oesophagus COSM5792596 CHD9 c.6849A>G p.S2283S Substitution - coding silent Breast COSM5080147 MEN1 c.766C>A p.L256I Substitution - Missense Large_intestine COSM1458070 NCOA2 c.2147G>A p.S716N Substitution - Missense Large_intestine COSM1012897 DNMT3A c.2370G>T p.R790S Substitution - Missense Lung COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1093699 TRRAP c.9129C>T p.I3043I Substitution - coding silent Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM219229 ATAD2 c.3196G>T p.D1066Y Substitution - Missense Breast COSM2007011 KMT2D c.7712C>T p.P2571L Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM252979 CLOCK c.368delT p.L123fs*1 Deletion - Frameshift Large_intestine COSM1454647 ATAD2 c.1777G>T p.E593* Substitution - Nonsense Large_intestine COSM4919649 BAHCC1 c.660G>A p.V220V Substitution - coding silent Liver COSM5950166 ARID1A c.185delC p.V63fs*38 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4927224 RSF1 c.3849A>G p.E1283E Substitution - coding silent Liver COSM5389626 DPF1 c.902C>T p.T301I Substitution - Missense Skin COSM3447393 PRDM11 c.781G>A p.E261K Substitution - Missense Skin COSM1289025 ZCWPW1 c.1931C>A p.A644E Substitution - Missense Autonomic_ganglia COSM78544 SMARCA2 c.1070G>T p.R357M Substitution - Missense Ovary COSM5629821 CHD2 c.2660C>T p.S887F Substitution - Missense Oesophagus COSM1173292 TIF1 c.1616G>T p.S539I Substitution - Missense Oesophagus COSM3148822 DNMT1 c.387delC p.K130fs*129 Deletion - Frameshift Pancreas COSM3589830 MECOM c.3086C>T p.S1029F Substitution - Missense Skin COSM1689318 TDRD5 c.2768A>T p.D923V Substitution - Missense Skin COSM158731 PHF6 c.725G>A p.C242Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4665988 BPTF c.671T>C p.I224T Substitution - Missense Large_intestine COSM3869903 DPF2 c.33C>T p.L11L Substitution - coding silent Skin COSM4445223 CHD8 c.7504delC p.H2502fs*10 Deletion - Frameshift Large_intestine COSM4085890 BAZ2B c.1731A>G p.T577T Substitution - coding silent Stomach COSM3458544 ATF7IP c.2182C>T p.P728S Substitution - Missense Skin COSM1169686 TET2 c.? p.Q810* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4728314 SMARCB1 c.86G>A p.G29D Substitution - Missense Large_intestine COSM2812152 SETBP1 c.4444C>T p.P1482S Substitution - Missense Large_intestine COSM4405329 ASXL3 c.2409G>A p.T803T Substitution - coding silent Skin COSM1303444 CHD3 c.1716C>G p.I572M Substitution - Missense Urinary_tract COSM13854 CHD1 c.5038G>T p.D1680Y Substitution - Missense Lung COSM5065142 SMARCA4 c.1662_1662delG p.L554fs*59 Deletion - Frameshift Kidney COSM5817926 RAG2 c.14T>G p.M5R Substitution - Missense Liver COSM3369765 SCMH1 c.249G>A p.R83R Substitution - coding silent Prostate COSM1079900 TDRD6 c.3285T>G p.A1095A Substitution - coding silent Endometrium COSM5708585 TBL1XR1 c.920A>G p.H307R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5696828 RAD54L c.1617A>G p.L539L Substitution - coding silent Soft_tissue COSM5879025 TET2 c.3849_3868del20 p.S1284fs*9 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4399879 SUV420H1 c.2216A>T p.N739I Substitution - Missense Skin COSM2154529 SETD8 c.797C>T p.P266L Substitution - Missense Central_nervous_system COSM4533358 JMJD1C c.1314G>T p.K438N Substitution - Missense Skin COSM1663668 PRDM10 c.3406C>A p.Q1136K Substitution - Missense Kidney COSM3142259 CHD1 c.4086G>A p.K1362K Substitution - coding silent Large_intestine COSM1554205 GTF3C4 c.878C>T p.P293L Substitution - Missense Oesophagus COSM3848338 TAF1L c.168C>A p.V56V Substitution - coding silent Breast COSM5105892 BAZ2A_ENST00000379441 c.776_785del10 p.V259fs*14 Deletion - Frameshift Large_intestine COSM1603318 BMI1 c.249T>A p.V83V Substitution - coding silent Liver COSM5511013 CARM1 c.1037G>A p.R346Q Substitution - Missense Biliary_tract COSM3461515 KMT2D c.13648C>T p.P4550S Substitution - Missense Skin COSM1754201 NSD1 c.3918C>G p.H1306Q Substitution - Missense Urinary_tract COSM3381372 ARID1B c.4412C>T p.P1471L Substitution - Missense Pancreas COSM43431 TET2 c.971_971delA p.Q324fs*23 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1608335 INOC1 c.2262A>G p.E754E Substitution - coding silent Liver COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM975863 NCOR1 c.5453C>T p.A1818V Substitution - Missense Endometrium COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3372726 DNMT3A c.939G>A p.W313* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM88025 SMARCA4 c.2729C>T p.T910M Substitution - Missense Pancreas COSM5758919 BAG6 c.868C>T p.R290C Substitution - Missense Bone COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5634513 NCOR1 c.1924G>C p.E642Q Substitution - Missense Oesophagus COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5752684 DNMT3A c.2524C>T p.Q842* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5662525 EPC2 c.174A>T p.A58A Substitution - coding silent Soft_tissue COSM5031048 KDM6A c.3589C>T p.L1197F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5896027 TAF1L c.3439G>A p.E1147K Substitution - Missense Skin COSM481985 BRD8 c.858T>A p.T286T Substitution - coding silent Kidney COSM1388714 SETBP1 c.1626G>A p.M542I Substitution - Missense Large_intestine COSM3417413 ZMYM2 c.3019G>A p.E1007K Substitution - Missense Large_intestine COSM3563515 ATRX c.2774C>T p.S925F Substitution - Missense Skin COSM1196476 ASXL1 c.3259T>C p.Y1087H Substitution - Missense Lung COSM486636 NCOA2 c.3822A>C p.P1274P Substitution - coding silent Kidney COSM1307487 NCOA3 c.3840C>T p.F1280F Substitution - coding silent Urinary_tract COSM4490553 KMT2A c.3659C>T p.S1220F Substitution - Missense Skin COSM4717472 PRDM13 c.1695C>T p.G565G Substitution - coding silent Large_intestine COSM308479 PBRM1 c.1432C>T p.Q478* Substitution - Nonsense Kidney COSM1099945 MYST3 c.2144A>C p.K715T Substitution - Missense Endometrium COSM159975 CHD2 c.3059A>T p.Q1020L Substitution - Missense Breast COSM3944339 CHD2 c.3425C>T p.A1142V Substitution - Missense Ovary COSM4433138 TRIM24 c.2530T>C p.C844R Substitution - Missense Oesophagus COSM3358564 PBRM1 c.580_581delGT p.V194fs*11 Deletion - Frameshift Kidney COSM309883 CBX4 c.1008C>G p.S336R Substitution - Missense Lung COSM5721869 KDM5A c.2979C>T p.S993S Substitution - coding silent Skin COSM5923276 AP001011.3_ENST00000320876 c.485T>C p.V162A Substitution - Missense Skin COSM1232750 WHSC1L1 c.631C>T p.R211C Substitution - Missense Large_intestine COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM6006515 HDAC1 c.885G>A p.M295I Substitution - Missense Prostate COSM4850923 BRD7 c.1185A>C p.K395N Substitution - Missense Cervix COSM378970 DPF2 c.178C>T p.R60* Substitution - Nonsense Lung COSM4185412 PBRM1 c.1364_1371delTGTTTGAA p.M455fs*6 Deletion - Frameshift Kidney COSM218281 SFMBT2 c.962C>T p.S321L Substitution - Missense Pancreas COSM1006 SMARCB1 c.1125_1126insG p.M375fs*12 Insertion - Frameshift Meninges COSM4791712 BAHCC1 c.794G>A p.G265D Substitution - Missense Liver COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3637087 HDAC9 c.2930G>A p.G977E Substitution - Missense Skin COSM276078 KMT2C c.12921C>T p.I4307I Substitution - coding silent Large_intestine COSM4079928 UHRF1 c.798G>A p.R266R Substitution - coding silent Stomach COSM4767796 EP300 c.3183T>A p.T1061T Substitution - coding silent Large_intestine COSM1472509 PRDM2 c.831_832insGAA p.E282_D283insE Insertion - In frame Upper_aerodigestive_tract COSM5392255 EYA2 c.567C>T p.A189A Substitution - coding silent Skin COSM1439159 BRD9 c.584C>T p.T195M Substitution - Missense Stomach COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Soft_tissue COSM321080 JHDM1D c.1930C>A p.R644S Substitution - Missense Lung COSM5682877 PRDM9 c.2011C>A p.R671R Substitution - coding silent Soft_tissue COSM4702498 KMT2C c.7864C>T p.H2622Y Substitution - Missense Large_intestine COSM461058 NCOA1 c.412G>C p.E138Q Substitution - Missense Cervix COSM255213 MEN1 c.1621A>G p.T541A Substitution - Missense Soft_tissue COSM4578611 IDH2 c.1156G>C p.D386H Substitution - Missense Bone COSM3948117 SHPRH c.4855A>G p.I1619V Substitution - Missense Lung COSM120499 DNMT3A c.2638A>G p.M880V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3307216 HDAC9 c.1871C>T p.P624L Substitution - Missense Prostate COSM4424930 TDRD6 c.4994T>C p.I1665T Substitution - Missense Oesophagus COSM4384712 KMT2D c.10520T>G p.M3507R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM675482 VPS72 c.423A>G p.T141T Substitution - coding silent Lung COSM390347 ATRX c.2630A>T p.D877V Substitution - Missense Lung COSM4010279 RERE c.985A>G p.M329V Substitution - Missense Stomach COSM1184894 BRD4 c.167C>A p.P56H Substitution - Missense Large_intestine COSM4590784 ATF7IP c.2647C>A p.Q883K Substitution - Missense Upper_aerodigestive_tract COSM1384428 MBTD1 c.474C>T p.S158S Substitution - coding silent Large_intestine COSM3642798 TRRAP c.6504C>T p.I2168I Substitution - coding silent Skin COSM4094437 MSH6 c.1937A>G p.K646R Substitution - Missense Stomach COSM96433 EP300 c.5095delA p.N1700fs*9 Deletion - Frameshift Breast COSM5024904 KMT2A c.8011T>G p.L2671V Substitution - Missense Breast COSM2078760 PHC2 c.1152C>T p.S384S Substitution - coding silent Large_intestine COSM222571 ASH1L c.3874G>T p.E1292* Substitution - Nonsense Skin COSM4425397 ZMYM2 c.1639G>T p.D547Y Substitution - Missense Oesophagus COSM2797727 BPTF c.3327G>A p.T1109T Substitution - coding silent Large_intestine COSM3508897 SRCAP c.2104C>A p.Q702K Substitution - Missense Skin COSM139482 ZBTB38 c.1684C>T p.P562S Substitution - Missense Skin COSM4421415 ASH1L c.6173A>G p.N2058S Substitution - Missense Pleura COSM133967 ASH1L c.5806G>A p.E1936K Substitution - Missense Skin COSM4798874 RAG2 c.1331T>A p.I444N Substitution - Missense Liver COSM4384098 NSD1 c.7367T>C p.M2456T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3754330 TP53BP1 c.3406A>C p.K1136Q Substitution - Missense Pancreas COSM1354949 GLYATL1 c.499G>A p.E167K Substitution - Missense Large_intestine COSM1566422 PHF21B c.316G>A p.V106I Substitution - Missense Large_intestine COSM417507 EZH1 c.484G>C p.E162Q Substitution - Missense Urinary_tract COSM924940 PRDM10 c.3154C>T p.R1052C Substitution - Missense Endometrium COSM4075108 MBD3 c.292G>A p.A98T Substitution - Missense Stomach COSM5036954 ATAD2 c.3782G>A p.C1261Y Substitution - Missense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1466730 MECP2 c.834C>T p.A278A Substitution - coding silent Large_intestine COSM971416 CHD9 c.2243G>A p.R748Q Substitution - Missense Endometrium COSM750461 WHSC1L1 c.86G>A p.R29H Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5744241 PHC2 c.1982G>T p.C661F Substitution - Missense Small_intestine COSM1580110 BRD8 c.1792G>A p.E598K Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1745561 KDM6A c.1840_1841insC p.L615fs*6 Insertion - Frameshift Urinary_tract COSM233662 TRRAP c.11141G>A p.G3714E Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM357305 BAZ2B c.1611G>A p.L537L Substitution - coding silent Lung COSM3730008 CHD2 c.682delA p.N229fs*20 Deletion - Frameshift Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5903732 UHRF2 c.645-6C>T p.? Unknown Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5033836 KDM6A c.88G>A p.A30T Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM228110 KMT2C c.1042G>A p.D348N Substitution - Missense Soft_tissue COSM3749492 DOT1L c.4156G>A p.G1386S Substitution - Missense Large_intestine COSM5015075 CHD4 c.357G>C p.K119N Substitution - Missense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM426609 PHF13 c.760A>C p.T254P Substitution - Missense Breast COSM488159 MECP2 c.218C>T p.A73V Substitution - Missense Kidney COSM1363349 MBD6 c.2337_2338insG p.A783fs*10 Insertion - Frameshift Large_intestine COSM252857 TAF1 c.2560C>T p.R854C Substitution - Missense Endometrium COSM4151717 BPTF c.2299G>C p.G767R Substitution - Missense Kidney COSM87007 DNMT3A c.2711C>T p.P904L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384866 CREBBP c.5621C>T p.T1874I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2221845 TRIM66 c.1614A>G p.K538K Substitution - coding silent Large_intestine COSM5350163 YY1 c.728T>C p.I243T Substitution - Missense Lung COSM348682 KMT2D c.4225G>A p.E1409K Substitution - Missense Endometrium COSM3620782 EYA4 c.91G>A p.E31K Substitution - Missense Skin COSM1569973 CDY2B c.923_924insA p.N308fs*9 Insertion - Frameshift Large_intestine COSM4987570 AIRE c.1370G>A p.C457Y Substitution - Missense Soft_tissue COSM5503336 KMT2C c.6719G>T p.R2240I Substitution - Missense Biliary_tract COSM370767 MGA c.2806G>A p.D936N Substitution - Missense Lung COSM1237147 GABRG1 c.1066T>C p.Y356H Substitution - Missense Parathyroid COSM1284746 EP400 c.8380C>T p.Q2794* Substitution - Nonsense Autonomic_ganglia COSM4950585 CHD7 c.5638G>T p.E1880* Substitution - Nonsense Liver COSM396279 PHF20L1 c.49G>T p.A17S Substitution - Missense Lung COSM4054498 RTF1 c.633G>A p.S211S Substitution - coding silent Stomach COSM4939531 CHD7 c.7413A>G p.S2471S Substitution - coding silent Liver COSM1238250 ATAD2 c.2536A>G p.I846V Substitution - Missense Oesophagus COSM5927394 PHF15 c.2059G>A p.V687I Substitution - Missense Skin COSM908299 HDAC1 c.1191C>T p.D397D Substitution - coding silent Endometrium COSM3590017 PHC3 c.1670C>T p.P557L Substitution - Missense Skin COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87181 TET2 c.5456_5457insGGGAC p.S1820fs*15 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM115726 SHPRH c.2741T>G p.I914R Substitution - Missense Ovary COSM127840 DOT1L c.1575C>T p.L525L Substitution - coding silent Upper_aerodigestive_tract COSM144597 KMT2D c.7019T>C p.L2340P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM221087 KMT2D c.4301delA p.H1434fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM221152 KMT2D c.8515_8516insG p.P2839fs*9 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM205718 SHPRH c.4105C>T p.R1369C Substitution - Missense Large_intestine COSM206252 KMT2C c.11093C>T p.T3698M Substitution - Missense Upper_aerodigestive_tract COSM254833 MYST1 c.419G>A p.R140H Substitution - Missense Upper_aerodigestive_tract COSM250853 BRWD1 c.4808A>G p.Y1603C Substitution - Missense Liver COSM274058 ASH2L c.1005G>A p.P335P Substitution - coding silent Large_intestine COSM293686 SP140_ENST00000392045 c.2008delA p.K672fs*4 Deletion - Frameshift Large_intestine COSM312113 KDM4A c.1602A>T p.R534R Substitution - coding silent Lung COSM314670 RAG2 c.1201A>G p.T401A Substitution - Missense Lung COSM333229 SUV420H1 c.2272T>C p.Y758H Substitution - Missense Lung COSM341452 PHIP c.3023G>T p.G1008V Substitution - Missense Lung COSM366303 ATAD2B_ENST00000238789 c.1189G>T p.V397L Substitution - Missense Lung COSM370176 DUSP1 c.984G>T p.V328V Substitution - coding silent Lung COSM383559 CHD7 c.8519C>A p.T2840N Substitution - Missense Lung COSM379390 PHIP c.2517G>T p.W839C Substitution - Missense Lung COSM52906 PBRM1 c.3033delA p.K1011fs*3 Deletion - Frameshift Kidney COSM432124 ING1 c.514G>T p.A172S Substitution - Missense Breast COSM583991 SETD2 c.3113A>G p.N1038S Substitution - Missense Stomach COSM697532 CHD8 c.1795G>A p.E599K Substitution - Missense Lung COSM732822 PRDM5 c.154A>G p.M52V Substitution - Missense Lung COSM908300 HDAC1 c.1360_1362delGAG p.E455delE Deletion - In frame Endometrium COSM1040963 MECOM c.2249G>A p.R750Q Substitution - Missense Endometrium COSM1045654 SMARCC1 c.2518G>T p.E840* Substitution - Nonsense Endometrium COSM969926 SRCAP c.2032G>A p.V678M Substitution - Missense Endometrium COSM1121602 KDM6A c.3540C>A p.F1180L Substitution - Missense Endometrium COSM1121694 PHF16 c.1063G>A p.E355K Substitution - Missense Endometrium COSM1125861 BRWD3 c.1939C>A p.L647I Substitution - Missense Endometrium COSM1100834 CHD7 c.5428C>T p.R1810* Substitution - Nonsense Endometrium COSM1262957 PRDM9 c.631T>G p.F211V Substitution - Missense Oesophagus COSM1255199 KAT2B c.1730C>T p.T577I Substitution - Missense Oesophagus COSM1211795 KDM5D c.4177C>T p.L1393F Substitution - Missense Large_intestine COSM1220394 PHIP c.1186C>T p.R396* Substitution - Nonsense Large_intestine COSM1299685 BAZ2A_ENST00000379441 c.462C>G p.T154T Substitution - coding silent Urinary_tract COSM1298512 SUV420H1 c.1543A>G p.R515G Substitution - Missense Urinary_tract COSM1331807 KDM5C c.1524_1532delCTCAGCCTT p.S509_F511delSAF Deletion - In frame Ovary COSM1326697 NCOA3 c.2154C>T p.D718D Substitution - coding silent Stomach COSM1394650 KDM4B c.2208C>T p.G736G Substitution - coding silent Large_intestine COSM1462672 UHRF2 c.71C>T p.T24M Substitution - Missense Large_intestine COSM1448353 TRIM24 c.655C>T p.R219* Substitution - Nonsense Large_intestine COSM1348888 SFMBT2 c.1680C>T p.C560C Substitution - coding silent Lung COSM1629134 SETDB2 c.99G>C p.Q33H Substitution - Missense Liver COSM1639812 ARID1A c.2253delT p.Y752fs*81 Deletion - Frameshift Stomach COSM1640357 MORF4L1 c.755C>T p.A252V Substitution - Missense Stomach COSM1672249 JARID2 c.1577C>G p.S526C Substitution - Missense Large_intestine COSM1716680 ATRX c.3315delA p.D1106fs*12 Deletion - Frameshift Central_nervous_system COSM1712085 GATAD2A c.757A>T p.N253Y Substitution - Missense Skin COSM1717602 KMT2D c.7390C>T p.R2464* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1750993 KDM4B c.2527A>G p.I843V Substitution - Missense Urinary_tract COSM2002877 ATF7IP c.3404G>A p.R1135H Substitution - Missense Large_intestine COSM2098581 CHD4 c.1687-9C>T p.? Unknown Large_intestine COSM2235557 ARID1A c.6096A>G p.E2032E Substitution - coding silent Upper_aerodigestive_tract COSM2772208 TAF1L c.4032C>T p.F1344F Substitution - coding silent Stomach COSM3113521 SETD1A c.1926G>A p.P642P Substitution - coding silent Large_intestine COSM3378501 SETBP1 c.147G>C p.P49P Substitution - coding silent Pancreas COSM3380653 PBRM1 c.2126T>A p.I709N Substitution - Missense Pancreas COSM3488882 ZMYM4 c.1426C>T p.R476C Substitution - Missense Skin COSM3494915 CHD8 c.6486C>T p.N2162N Substitution - coding silent Skin COSM3423939 SETD4 c.1253G>A p.W418* Substitution - Nonsense Large_intestine COSM3446226 PRMT3 c.1326C>T p.I442I Substitution - coding silent Skin COSM3559640 HCFC1 c.1742C>T p.S581F Substitution - Missense Skin COSM3529800 MBD3 c.820G>C p.D274H Substitution - Missense Skin COSM3728526 CREBBP c.1923C>T p.Y641Y Substitution - coding silent Stomach COSM3724497 SMARCA4 c.3546+1G>A p.? Unknown Ovary COSM3710310 SETDB1 c.700T>C p.F234L Substitution - Missense Upper_aerodigestive_tract COSM3744916 L3MBTL3 c.1437G>T p.M479I Substitution - Missense Liver COSM3748784 SMC1A c.1235G>A p.R412Q Substitution - Missense Stomach COSM3762194 PHIP c.3278T>C p.L1093P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3778213 EZH2 c.1368C>T p.F456F Substitution - coding silent Urinary_tract COSM3793171 ZMYM5 c.950C>T p.S317F Substitution - Missense Urinary_tract COSM3834975 NCOA2 c.2529C>A p.L843L Substitution - coding silent Breast COSM3833995 ATAD2 c.2833C>G p.P945A Substitution - Missense Breast COSM3883700 TRRAP c.1216A>G p.I406V Substitution - Missense Stomach COSM3958510 MYST2 c.974G>C p.R325T Substitution - Missense Lung COSM4031010 ARID1A c.3469G>T p.G1157* Substitution - Nonsense Large_intestine COSM4022085 SETDB1 c.3486A>T p.K1162N Substitution - Missense Stomach COSM4049855 CHD8 c.2093T>G p.L698* Substitution - Nonsense Stomach COSM4053395 SETD3 c.881G>A p.R294H Substitution - Missense Stomach COSM3989671 SMARCA4 c.3731G>C p.R1244P Substitution - Missense Kidney COSM4107977 HCFC1 c.3051G>A p.T1017T Substitution - coding silent Stomach COSM4106225 ZBTB33 c.203T>C p.V68A Substitution - Missense Stomach COSM4066852 HDAC5 c.3179G>A p.C1060Y Substitution - Missense Stomach COSM4075931 GATAD2A c.262T>C p.S88P Substitution - Missense Stomach COSM4156642 FMR1 c.357A>C p.K119N Substitution - Missense Upper_aerodigestive_tract COSM4163722 TAF1L c.3288G>A p.L1096L Substitution - coding silent Thyroid COSM4381931 KMT2C c.943G>T p.G315C Substitution - Missense Soft_tissue COSM4384274 EZH2 c.1682G>C p.R561P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4387912 INO80C c.379+3G>A p.? Unknown Pancreas COSM4398572 ASXL3 c.1271C>T p.S424L Substitution - Missense Skin COSM4516074 SETD1A c.1560_1561CC>TT p.L521F Substitution - Missense Skin COSM4585723 NSD1 c.1149C>T p.I383I Substitution - coding silent Bone COSM4590278 KDM2A c.310A>G p.S104G Substitution - Missense Upper_aerodigestive_tract COSM4451010 MYST2 c.1017A>G p.T339T Substitution - coding silent Skin COSM4447923 UHRF1 c.2001T>A p.G667G Substitution - coding silent Skin COSM4448149 BAHCC1 c.7493C>T p.P2498L Substitution - Missense Skin COSM4411402 BRPF3 c.2653A>G p.K885E Substitution - Missense Kidney COSM4411409 POLE3 c.43A>T p.I15F Substitution - Missense Kidney COSM4722075 RNF2 c.381A>G p.V127V Substitution - coding silent Large_intestine COSM4681136 EP400 c.7535C>T p.P2512L Substitution - Missense Large_intestine COSM4697163 L3MBTL4 c.950C>T p.T317M Substitution - Missense Large_intestine COSM4767451 KMT2C c.2769+5G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4765455 MBD5 c.3520_3521insA p.N1175fs*9 Insertion - Frameshift Stomach COSM4651397 TRIM28 c.1593C>T p.T531T Substitution - coding silent Large_intestine COSM4645375 SUV420H2 c.934C>T p.R312C Substitution - Missense Large_intestine COSM4637637 DPF2 c.397G>A p.A133T Substitution - Missense Large_intestine COSM4792286 KDM3A c.2093-1G>A p.? Unknown Liver COSM4886389 ATRX c.3028G>T p.E1010* Substitution - Nonsense Upper_aerodigestive_tract COSM4930687 KAT6B c.3831A>T p.P1277P Substitution - coding silent Liver COSM4916593 NIPBL c.4299T>C p.C1433C Substitution - coding silent Liver COSM4901060 EYA1 c.121G>A p.E41K Substitution - Missense Skin COSM4879756 CHD8 c.5701T>A p.L1901I Substitution - Missense Oesophagus COSM4878563 SETBP1 c.153C>T p.G51G Substitution - coding silent Prostate COSM5013221 BPTF c.5756G>T p.R1919L Substitution - Missense Kidney COSM5020229 KDM6B c.1330A>G p.S444G Substitution - Missense Soft_tissue COSM5028112 GTF3C1 c.6293C>T p.P2098L Substitution - Missense Breast COSM5019959 PBRM1 c.1281C>T p.P427P Substitution - coding silent Soft_tissue COSM5019699 HNF1A c.864G>C p.G288G Substitution - coding silent Soft_tissue COSM5015445 RAI1 c.345G>C p.E115D Substitution - Missense Kidney COSM5009119 KMT2C c.8928C>T p.V2976V Substitution - coding silent Large_intestine COSM5101037 UBR7 c.30G>A p.R10R Substitution - coding silent Large_intestine COSM5101865 MPHOSPH8 c.1081delA p.K362fs*14 Deletion - Frameshift Large_intestine COSM5342589 PYGO1 c.1106G>A p.R369Q Substitution - Missense Large_intestine COSM5383270 MGA c.7523C>T p.S2508F Substitution - Missense Skin COSM5500345 KIAA2026_ENST00000399933 c.1399G>A p.E467K Substitution - Missense Biliary_tract COSM5636305 SETD5_ENST00000402198 c.3128C>T p.S1043L Substitution - Missense Oesophagus COSM5636874 SRCAP c.4444C>T p.P1482S Substitution - Missense Oesophagus COSM5611559 PHF8 c.339G>T p.V113V Substitution - coding silent Adrenal_gland COSM5607843 ARID1A c.5791G>A p.E1931K Substitution - Missense Skin COSM5674883 DIDO1 c.3724T>C p.S1242P Substitution - Missense Soft_tissue COSM5560509 TRIM24 c.1494G>T p.M498I Substitution - Missense Prostate COSM5567507 PRDM14 c.501C>T p.S167S Substitution - coding silent Prostate COSM5788374 PHF2 c.1291C>G p.L431V Substitution - Missense Breast COSM5878986 TET2 c.2657_2658insG p.E887fs*14 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5927911 EP300 c.1246C>T p.P416S Substitution - Missense Skin COSM5931797 BRPF3 c.666A>T p.E222D Substitution - Missense Skin COSM5902809 SHPRH c.2906C>T p.S969F Substitution - Missense Skin COSM5934018 NCOA5 c.1244C>T p.P415L Substitution - Missense Skin COSM5966709 MECOM c.244C>A p.Q82K Substitution - Missense Adrenal_gland COSM5964222 DUSP1 c.340C>T p.R114C Substitution - Missense Breast COSM5981722 NCOA5 c.65G>A p.R22Q Substitution - Missense Upper_aerodigestive_tract COSM5968876 HDGF c.418G>A p.V140I Substitution - Missense Upper_aerodigestive_tract COSM5991853 SMARCA2 c.225_225+2delGGT p.? Unknown Prostate COSM3738497 TET2 c.? p.G1754fs*7 Frameshift Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM132980 ASXL1 c.? p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4756145 TRIM28 c.2326A>C p.T776P Substitution - Missense Stomach COSM5616503 PRDM10 c.3164-6T>G p.? Unknown Lung COSM211665 TET2 c.3775_3776insGCTCA p.T1259fs*9 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5691816 EP400 c.8361G>C p.Q2787H Substitution - Missense Soft_tissue COSM266403 DNMT1 c.1294G>A p.E432K Substitution - Missense Skin COSM4984816 ARID1A c.? p.S303fs*50 Frameshift Lung COSM1411100 ASXL1 c.4328A>G p.K1443R Substitution - Missense Large_intestine COSM4735442 TP53BP1 c.4652A>G p.E1551G Substitution - Missense Large_intestine COSM3909972 HDAC4 c.2799C>T p.F933F Substitution - coding silent Skin COSM5886973 PHF12 c.2014C>T p.P672S Substitution - Missense Skin COSM1088179 HDAC9 c.1699G>T p.E567* Substitution - Nonsense Endometrium COSM910300 RAD54L c.1825C>T p.R609* Substitution - Nonsense Endometrium COSM4742936 ZMYM6 c.1518C>T p.D506D Substitution - coding silent Large_intestine COSM5749641 SMARCA1 c.1109C>T p.S370F Substitution - Missense Genital_tract COSM26005 KDM6A c.3930C>A p.L1310L Substitution - coding silent Kidney COSM4614530 BRPF1 c.2806delC p.Q938fs*5 Deletion - Frameshift Large_intestine COSM4768276 ZMYM5 c.14C>T p.S5L Substitution - Missense Biliary_tract COSM4663983 ATF7IP c.812C>T p.T271I Substitution - Missense Large_intestine COSM5514286 ING1 c.179G>A p.R60H Substitution - Missense Biliary_tract COSM4689687 HDAC5 c.1398delC p.H466fs*6 Deletion - Frameshift Large_intestine COSM1023005 INO80B c.481C>T p.R161W Substitution - Missense Endometrium COSM1316370 JMJD1C c.308C>G p.P103R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5555037 CHD6 c.7424G>T p.G2475V Substitution - Missense Prostate COSM5622517 PRDM2 c.3809A>G p.Y1270C Substitution - Missense Oesophagus COSM3505533 CHD2 c.2123C>T p.S708F Substitution - Missense Skin COSM3445294 PRDM10 c.2409C>T p.L803L Substitution - coding silent Skin COSM4428215 DPF1 c.460G>C p.E154Q Substitution - Missense Oesophagus COSM4135694 MEN1 c.1049+1G>C p.? Unknown Pancreas COSM480412 PBRM1 c.1369G>T p.E457* Substitution - Nonsense Kidney COSM4930824 MPHOSPH8 c.687A>T p.K229N Substitution - Missense Liver COSM30383 KMT2D c.6185C>T p.T2062I Substitution - Missense Kidney COSM4044352 CHD4 c.1831C>T p.R611C Substitution - Missense Stomach COSM4385928 ASXL1 c.1875_1876insG p.A627fs*8 Insertion - Frameshift Large_intestine COSM1635198 KMT2C c.2185A>G p.N729D Substitution - Missense Upper_aerodigestive_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM1412230 ZMYND8 c.3309G>A p.T1103T Substitution - coding silent Large_intestine COSM1431295 PRDM8 c.321delA p.N109fs*19 Deletion - Frameshift Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5439004 JARID2 c.972G>T p.K324N Substitution - Missense Oesophagus COSM3731429 SMARCC2 c.3128_3129insC p.G1044fs*33 Insertion - Frameshift Stomach COSM1370224 ARID4A c.42C>T p.T14T Substitution - coding silent Large_intestine COSM100055 TET2 c.4256C>G p.P1419R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5430164 TDRD6 c.747C>T p.G249G Substitution - coding silent Oesophagus COSM4618324 KAT2B c.830G>T p.G277V Substitution - Missense Large_intestine COSM3810831 HCFC2 c.127G>C p.E43Q Substitution - Missense Breast COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1067094 PRDM9 c.2496T>C p.Y832Y Substitution - coding silent Prostate COSM1325064 EZH1 c.1724A>C p.Y575S Substitution - Missense Ovary COSM5879927 KDM6A c.1148G>T p.S383I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM79348 CREBBP c.4021C>T p.R1341* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM225257 KMT2C c.2915G>A p.G972E Substitution - Missense Stomach COSM4411118 CHD6 c.3284C>T p.A1095V Substitution - Missense Kidney COSM245201 KDM6A c.3479G>T p.G1160V Substitution - Missense Prostate COSM41294 IDH1 c.? p.R132C Substitution - Missense Soft_tissue COSM3579792 HDAC4 c.2770C>T p.P924S Substitution - Missense Skin COSM215748 CARM1 c.796G>A p.E266K Substitution - Missense Central_nervous_system COSM1075355 ARID1B c.4672C>T p.P1558S Substitution - Missense Endometrium COSM3596281 SFMBT1 c.1130C>A p.P377Q Substitution - Missense Skin COSM1330977 MYST3 c.3527G>C p.S1176T Substitution - Missense Ovary COSM1295174 ASH1L c.8023G>A p.D2675N Substitution - Missense Urinary_tract COSM4426604 L3MBTL4 c.1702G>C p.E568Q Substitution - Missense Oesophagus COSM745847 KMT2C c.2736G>A p.L912L Substitution - coding silent Lung COSM987406 SMCHD1 c.1073G>A p.G358D Substitution - Missense Endometrium COSM5722738 ASXL3 c.544G>A p.E182K Substitution - Missense Skin COSM731419 SETD5_ENST00000402198 c.2692G>A p.A898T Substitution - Missense Lung COSM4742157 ZBTB4 c.1961_1962insGGA p.E654_S655insE Insertion - In frame Large_intestine COSM4603623 EZH2 c.? p.S695L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1185844 ATAD2B_ENST00000238789 c.2972A>T p.E991V Substitution - Missense Lung COSM1667089 PRDM16 c.2134C>T p.Q712* Substitution - Nonsense Prostate COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1620273 NIPBL c.5029A>G p.I1677V Substitution - Missense Liver COSM4449140 SMCHD1 c.77delT p.F27fs*4 Deletion - Frameshift Skin COSM4741201 WHSC1 c.2908C>T p.R970C Substitution - Missense Large_intestine COSM3770764 ASXL1 c.4462C>T p.L1488F Substitution - Missense Pancreas COSM3383617 GLYATL1 c.109A>G p.I37V Substitution - Missense Pancreas COSM4924973 DIDO1 c.4531A>G p.M1511V Substitution - Missense Liver COSM3744483 UBR7 c.745C>T p.R249W Substitution - Missense Liver COSM255126 MEN1 c.495_495delC p.Q166fs*19 Deletion - Frameshift Parathyroid COSM3732528 CREBBP c.4396_4397insT p.Y1466fs*13 Insertion - Frameshift Stomach COSM1493872 NCOR1 c.356T>A p.F119Y Substitution - Missense Kidney COSM5352295 EP300 c.? p.R2185Q Substitution - Missense Endometrium COSM3672681 MBD2 c.1071C>A p.P357P Substitution - coding silent Prostate COSM1106550 BRD3 c.1064C>T p.P355L Substitution - Missense Endometrium COSM1716780 TET2 c.? p.Q649* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3451014 MTA2 c.93C>T p.N31N Substitution - coding silent Skin COSM3551330 AIRE c.152A>T p.E51V Substitution - Missense Skin COSM1023506 KDM3A c.2948A>C p.H983P Substitution - Missense Endometrium COSM4956675 SFMBT2 c.2169C>T p.D723D Substitution - coding silent Liver COSM5428708 TRIM24 c.276C>A p.P92P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1172738 DIDO1 c.6596G>A p.R2199Q Substitution - Missense Oesophagus COSM249341 BAP1 c.512T>A p.V171D Substitution - Missense Kidney COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Central_nervous_system COSM1377145 CCDC101 c.553C>A p.H185N Substitution - Missense Large_intestine COSM4215754 TDRD3 c.940A>G p.N314D Substitution - Missense Oesophagus COSM5592787 PWWP2B c.999C>T p.I333I Substitution - coding silent Skin COSM20740 TAF1L c.1897C>T p.Q633* Substitution - Nonsense Ovary COSM51994 TET2 c.? p.C784* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1182085 ADNP c.798A>C p.K266N Substitution - Missense Large_intestine COSM1659029 BRD1 c.2981A>G p.N994S Substitution - Missense Salivary_gland COSM5999020 SFMBT2 c.1875C>G p.F625L Substitution - Missense Prostate COSM1615879 ZGPAT c.249G>A p.R83R Substitution - coding silent Liver COSM1026079 NCOA6 c.3353C>T p.P1118L Substitution - Missense Stomach COSM5002174 PHF21A c.1544-3delT p.? Unknown Pancreas COSM1257541 MECP2 c.1259G>C p.R420T Substitution - Missense Stomach COSM4468782 JARID2 c.1562C>T p.S521F Substitution - Missense Skin COSM5368945 EP300 c.3406T>C p.S1136P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5408354 TRRAP c.3497T>A p.F1166Y Substitution - Missense Skin COSM3460967 ARID2 c.1825C>T p.Q609* Substitution - Nonsense Skin COSM30587 SMARCA4 c.805_806delCC p.P270fs*16 Deletion - Frameshift Lung COSM1716184 EZH2 c.? p.A682G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM133580 ASXL1 c.2222A>T p.D741V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM223753 RTF1 c.1036G>A p.E346K Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4728271 SMARCA2 c.708A>G p.Q236Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3729518 GLYATL1 c.202G>A p.G68R Substitution - Missense Stomach COSM4956181 LMNB2 c.1009G>A p.E337K Substitution - Missense Liver COSM3403537 SETBP1 c.2853C>T p.L951L Substitution - coding silent Central_nervous_system COSM3203683 MECOM c.850G>A p.A284T Substitution - Missense Upper_aerodigestive_tract COSM1469184 ZMYM3 c.1364G>T p.G455V Substitution - Missense Large_intestine COSM4384869 CREBBP c.4640A>G p.N1547S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4921833 NSD1 c.4547A>G p.E1516G Substitution - Missense Liver COSM4441701 CARM1 c.921C>A p.F307L Substitution - Missense Large_intestine COSM109835 MECOM c.64C>T p.R22C Substitution - Missense Skin COSM3048289 SP110 c.313C>T p.R105C Substitution - Missense Large_intestine COSM4880913 ATRX c.5771C>T p.S1924F Substitution - Missense Prostate COSM116298 EYA1 c.314C>G p.T105S Substitution - Missense Ovary COSM5047348 KMT2D c.6712_6713insT p.A2238fs*147 Insertion - Frameshift Oesophagus COSM5369350 PRDM1 c.528T>G p.Y176* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4497856 MGMT c.413C>T p.P138L Substitution - Missense Skin COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM236791 MEN1 c.1249T>A p.Y417N Substitution - Missense Prostate COSM4411374 PBRM1 c.619delC p.L207fs*17 Deletion - Frameshift Kidney COSM592297 NIPBL c.2521C>T p.R841* Substitution - Nonsense Skin COSM4705943 NCOA2 c.1915A>C p.T639P Substitution - Missense Large_intestine COSM1155719 ASXL1 c.3506C>T p.S1169F Substitution - Missense Skin COSM5588420 NCOA6 c.1287C>G p.A429A Substitution - coding silent Skin COSM86133 KIAA2026_ENST00000399933 c.917C>G p.A306G Substitution - Missense Ovary COSM4118115 DHX30 c.2637C>T p.T879T Substitution - coding silent Stomach COSM78711 TTF2 c.2874G>C p.L958F Substitution - Missense Ovary COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM97106 L3MBTL2 c.57_58GG>AA p.E20K Substitution - Missense Ovary COSM5683861 HDAC9 c.1534C>A p.L512I Substitution - Missense Soft_tissue COSM3560217 SCML2 c.94G>A p.D32N Substitution - Missense Skin COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM100082 KMT2C c.8390_8390delA p.K2797fs*26 Deletion - Frameshift Large_intestine COSM677962 RBBP5 c.1509C>G p.L503L Substitution - coding silent Lung COSM4419035 NSD1 c.1749G>A p.E583E Substitution - coding silent Soft_tissue COSM1465246 ZBTB33 c.563_564insTGA p.D194_V195insD Insertion - In frame Central_nervous_system COSM395507 KMT2D c.8660G>T p.G2887V Substitution - Missense Lung COSM5880057 PHF6 c.128_129insT p.K44fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM6014529 KDM2A c.2477C>T p.S826F Substitution - Missense Skin COSM5933034 EP400 c.1966C>T p.P656S Substitution - Missense Skin COSM3549152 ZGPAT c.1488G>A p.E496E Substitution - coding silent Skin COSM4085877 BAZ2B c.6348T>C p.S2116S Substitution - coding silent Stomach COSM1163621 KMT2C c.12526G>A p.G4176S Substitution - Missense Pancreas COSM3754332 TP53BP1 c.1234G>A p.G412S Substitution - Missense Large_intestine COSM203430 SND1 c.1171C>T p.R391C Substitution - Missense Stomach COSM1720389 SETD2 c.5204C>T p.S1735F Substitution - Missense Skin COSM3846800 ACTL6A c.781G>A p.D261N Substitution - Missense Breast COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM35862 HNF1A c.368_369ins24 p.L123_Q124insGEDGQVLP Insertion - In frame Liver COSM5981955 ARID1A c.4214_4214delT p.L1405fs*76 Deletion - Frameshift Stomach COSM1318011 KMT2D c.12311T>A p.L4104Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3951752 CHD7 c.3998A>G p.Y1333C Substitution - Missense Lung COSM5665980 HDAC10 c.321A>C p.A107A Substitution - coding silent Soft_tissue COSM329250 CHD8 c.5488C>T p.R1830C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5575227 MGA c.8825A>C p.E2942A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3967728 MEN1 c.995G>A p.R332H Substitution - Missense Central_nervous_system COSM5823295 DPF2 c.266A>T p.E89V Substitution - Missense Liver COSM4837754 ZMYM3 c.1909C>T p.R637W Substitution - Missense Cervix COSM1443308 BAG6 c.2824delC p.Q942fs*85 Deletion - Frameshift Large_intestine COSM1317565 ACTA1 c.762C>T p.N254N Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1195871 PHC3 c.958C>A p.L320I Substitution - Missense Lung COSM2866534 TRRAP c.2525T>C p.V842A Substitution - Missense Large_intestine COSM4731007 SUV420H2 c.968T>C p.L323P Substitution - Missense Large_intestine COSM921441 BTAF1 c.4740C>A p.N1580K Substitution - Missense Endometrium COSM4070291 KDM6B c.3787C>T p.R1263W Substitution - Missense Skin COSM4915462 KDM4C c.1639G>C p.V547L Substitution - Missense Liver COSM4589610 KMT2D c.2754_2755insC p.V919fs*15 Insertion - Frameshift Skin COSM3957718 CTCF c.1455T>C p.H485H Substitution - coding silent Lung COSM390234 PRDM5 c.1807G>A p.E603K Substitution - Missense Cervix COSM1603494 ERCC6 c.787A>G p.I263V Substitution - Missense Liver COSM4976297 PHF3 c.834C>G p.A278A Substitution - coding silent Oesophagus COSM162771 MYST3 c.5920G>A p.G1974R Substitution - Missense Breast COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6002006 SETD1A c.1663G>A p.G555R Substitution - Missense Prostate COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM4818531 ACTL6B c.271G>A p.E91K Substitution - Missense Upper_aerodigestive_tract COSM87961 KMT2C c.7975G>T p.E2659* Substitution - Nonsense Central_nervous_system COSM984407 ZBTB4 c.2501G>A p.G834E Substitution - Missense Endometrium COSM3698485 ACTB c.661C>T p.L221L Substitution - coding silent Large_intestine COSM5442922 TET2 c.980C>G p.S327* Substitution - Nonsense Oesophagus COSM266937 KMT2D c.3782G>A p.C1261Y Substitution - Missense Large_intestine COSM920018 SFMBT2 c.1750G>A p.E584K Substitution - Missense Endometrium COSM2909183 HDAC4 c.175C>T p.L59L Substitution - coding silent Large_intestine COSM143503 TDRD1 c.55_56CC>TT p.P19F Substitution - Missense Skin COSM343573 RERE c.4456G>A p.E1486K Substitution - Missense Skin COSM3089617 EHMT1 c.538G>A p.V180I Substitution - Missense Skin COSM1028997 DIDO1 c.1083C>T p.S361S Substitution - coding silent Endometrium COSM4506374 CHD7 c.7188C>T p.V2396V Substitution - coding silent Skin COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Upper_aerodigestive_tract COSM4982135 ASH1L c.4616C>T p.S1539F Substitution - Missense Oesophagus COSM4655987 TDRD6 c.3323C>T p.P1108L Substitution - Missense Large_intestine COSM1324491 SETD1A c.674C>G p.A225G Substitution - Missense Ovary COSM921719 HELLS c.2146C>T p.P716S Substitution - Missense Endometrium COSM1628609 ARID2 c.1433T>A p.L478* Substitution - Nonsense Liver COSM4808664 BTAF1 c.5370G>T p.G1790G Substitution - coding silent Pancreas COSM110810 TET2 c.3305_3306insA p.N1102fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5996983 RING1 c.237C>T p.S79S Substitution - coding silent Prostate COSM4702391 KMT2A c.6150-1G>T p.? Unknown Large_intestine COSM4610839 PRDM2 c.852delT p.D284fs*22 Deletion - Frameshift Large_intestine COSM1035239 BRD1 c.1939G>A p.V647M Substitution - Missense Large_intestine COSM97169 PRDM1 c.445T>G p.Y149D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4692488 ING1 c.391G>A p.A131T Substitution - Missense Large_intestine COSM3428021 TET2 c.1635C>T p.D545D Substitution - coding silent Large_intestine COSM236824 PHF17 c.894G>T p.E298D Substitution - Missense Prostate COSM1669702 IDH1 c.290G>A p.G97D Substitution - Missense Large_intestine COSM4613149 ZCWPW1 c.241delA p.R81fs*57 Deletion - Frameshift Large_intestine COSM1235324 DNMT3A c.2688A>G p.P896P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5664245 PRDM13 c.1305delG p.L436fs*55 Deletion - Frameshift Soft_tissue COSM1351640 KMT2A c.5736A>G p.E1912E Substitution - coding silent Large_intestine COSM1012910 ASXL1 c.2338C>T p.Q780* Substitution - Nonsense Salivary_gland COSM5950156 KMT2D c.2645delT p.L882fs*9 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1329538 PHIP c.4971G>A p.K1657K Substitution - coding silent Ovary COSM927030 PRDM11 c.1348C>T p.R450C Substitution - Missense Large_intestine COSM3662940 TRIM24 c.1879-2A>T p.? Unknown Liver COSM309323 ATAD2 c.4132-2A>G p.? Unknown Lung COSM3508924 SRCAP c.8371C>T p.P2791S Substitution - Missense Skin COSM5553704 KAT6B c.2103A>C p.E701D Substitution - Missense Prostate COSM48573 MSH6 c.589G>C p.D197H Substitution - Missense Lung COSM242858 ADNP c.649G>A p.E217K Substitution - Missense Prostate COSM5934542 HAT1 c.1136C>T p.P379L Substitution - Missense Skin COSM1736932 KIAA2026_ENST00000399933 c.3844G>T p.V1282F Substitution - Missense Central_nervous_system COSM4849885 RSF1 c.289G>C p.E97Q Substitution - Missense Cervix COSM1334660 ASH1L c.3665delA p.K1222fs*11 Deletion - Frameshift Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2777617 KIAA2026_ENST00000399933 c.1116G>A p.A372A Substitution - coding silent Large_intestine COSM4664626 ATRX c.4670T>C p.V1557A Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3906558 SMARCA2 c.3139C>T p.R1047W Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3370174 TP53BP1 c.4338C>A p.S1446S Substitution - coding silent Thyroid COSM4697156 L3MBTL2 c.629T>C p.V210A Substitution - Missense Large_intestine COSM255184 PHF6 c.673C>T p.R225* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4825086 KDM6A c.3592G>A p.E1198K Substitution - Missense Cervix COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM366029 KAT6B c.3643A>T p.K1215* Substitution - Nonsense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1353900 PHF21A c.1817delC p.P606fs*>29 Deletion - Frameshift Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM1125507 ATRX c.1346C>T p.P449L Substitution - Missense Endometrium COSM3973450 HCFC1 c.950C>G p.P317R Substitution - Missense Central_nervous_system COSM3563505 ATRX c.3875C>T p.S1292L Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM941755 BAZ2A c.3170C>T p.A1057V Substitution - Missense Endometrium COSM5575961 DAXX c.1186G>T p.A396S Substitution - Missense Stomach COSM1667511 KDM4A c.2035C>T p.Q679* Substitution - Nonsense Lung COSM51414 ARID1A c.6018_6020delGCT p.L2007del Deletion - In frame Endometrium COSM5945048 TET2 c.3818G>T p.C1273F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3614494 NSD1 c.328C>T p.P110S Substitution - Missense Skin COSM5932178 ZCWPW1 c.1615G>T p.D539Y Substitution - Missense Skin COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144703 PHF6 c.? p.C28fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM4694043 KAT2A c.208delG p.A70fs*12 Deletion - Frameshift Large_intestine COSM357851 L3MBTL4 c.1560C>T p.L520L Substitution - coding silent Lung COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM3604100 GABRG1 c.178C>T p.H60Y Substitution - Missense Skin COSM3838804 SP140_ENST00000392045 c.301G>T p.E101* Substitution - Nonsense Breast COSM1245454 ARID2 c.1624C>T p.R542* Substitution - Nonsense Skin COSM3636370 SMARCD3 c.1022A>G p.K341R Substitution - Missense Skin COSM216817 CHD7 c.3048T>A p.H1016Q Substitution - Missense Pancreas COSM4040531 ATF7IP c.852C>A p.T284T Substitution - coding silent Stomach COSM5437073 PHC2 c.2047G>C p.D683H Substitution - Missense Oesophagus COSM302137 EP400 c.8181A>G p.Q2727Q Substitution - coding silent Urinary_tract COSM3602381 ING2 c.340C>T p.R114W Substitution - Missense Skin COSM4755866 SMARCC2 c.146T>C p.L49P Substitution - Missense Stomach COSM5047642 HDAC9 c.1079C>T p.T360M Substitution - Missense Oesophagus COSM324355 ZBTB33 c.1687C>T p.Q563* Substitution - Nonsense Lung COSM2210714 ASH1L c.3838C>T p.R1280* Substitution - Nonsense Breast COSM3665282 TRRAP c.2466G>A p.P822P Substitution - coding silent Oesophagus COSM426100 HDAC1 c.50-2A>G p.? Unknown Breast COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Endometrium COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Large_intestine COSM3484205 LBR c.1414G>A p.A472T Substitution - Missense Skin COSM1359362 SIRT4 c.533delG p.V180fs*9 Deletion - Frameshift Large_intestine COSM1935794 SMARCC2 c.1453G>A p.A485T Substitution - Missense Stomach COSM3757702 BAZ2B c.6071G>A p.S2024N Substitution - Missense Large_intestine COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13373 TRIM33 c.2653C>T p.P885S Substitution - Missense Central_nervous_system COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51688 MEN1 c.362T>A p.V121D Substitution - Missense Parathyroid COSM72736 SMARCA4 c.2059A>G p.K687E Substitution - Missense Ovary COSM96024 MGMT c.318G>A p.V106V Substitution - coding silent Breast COSM110778 TET2 c.4258_4264delTTATACA p.L1420fs*26 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM88033 KDM6B c.3466C>T p.R1156* Substitution - Nonsense Skin COSM96388 ASXL1 c.2147_2147delC p.A716fs*9 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM149376 SETD2 c.4376C>T p.P1459L Substitution - Missense Soft_tissue COSM148145 SMYD4 c.1294A>T p.T432S Substitution - Missense Stomach COSM216208 KDM6A c.3940G>T p.G1314* Substitution - Nonsense Soft_tissue COSM216758 TDRD6 c.753G>A p.T251T Substitution - coding silent Pancreas COSM225883 KMT2C c.2968A>G p.S990G Substitution - Missense Central_nervous_system COSM247264 SETD4 c.1243G>T p.E415* Substitution - Nonsense Prostate COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Skin COSM254549 ARID1A c.5009G>A p.W1670* Substitution - Nonsense Urinary_tract COSM254974 TDRD1 c.2792G>A p.W931* Substitution - Nonsense Urinary_tract COSM296495 LMNB2 c.1569_1570insC p.S524fs*23 Insertion - Frameshift Large_intestine COSM316700 ZMYM3 c.162G>T p.S54S Substitution - coding silent Soft_tissue COSM350387 BAZ2B c.2660G>A p.R887K Substitution - Missense Lung COSM362330 PRDM9 c.1311G>T p.Q437H Substitution - Missense Lung COSM430522 HNF1A c.79A>C p.I27L Substitution - Missense Soft_tissue COSM450798 ARID1B c.4601G>A p.R1534K Substitution - Missense Breast COSM977051 PHF12 c.2276A>G p.H759R Substitution - Missense Endometrium COSM979861 HDAC5 c.2142C>A p.I714I Substitution - coding silent Endometrium COSM987421 SMCHD1 c.2852_2853insA p.N952fs*8 Insertion - Frameshift Endometrium COSM480287 BAP1 c.836C>A p.S279* Substitution - Nonsense Kidney COSM480356 PBRM1 c.2536G>T p.E846* Substitution - Nonsense Kidney COSM1600766 SETDB1 c.2503A>G p.K835E Substitution - Missense Liver COSM954435 CHD8 c.3916C>A p.L1306I Substitution - Missense Endometrium COSM957507 ARID2 c.1580G>T p.W527L Substitution - Missense Lung COSM1046990 BAP1 c.1642C>T p.R548C Substitution - Missense Endometrium COSM1049008 SETD5_ENST00000402198 c.3657G>A p.E1219E Substitution - coding silent Endometrium COSM939984 KMT2D c.14565C>A p.F4855L Substitution - Missense Endometrium COSM1026314 PHF20 c.2601G>A p.A867A Substitution - coding silent Skin COSM1031240 AIRE c.508G>A p.A170T Substitution - Missense Endometrium COSM1025803 DNMT3B c.1532G>A p.G511D Substitution - Missense Endometrium COSM754464 MSL3 c.1193C>A p.S398* Substitution - Nonsense Lung COSM713327 KDM4B c.768C>T p.I256I Substitution - coding silent Lung COSM702842 JMJD5 c.105G>T p.L35F Substitution - Missense Lung COSM908646 ZMYM1 c.2680G>T p.E894* Substitution - Nonsense Endometrium COSM924952 PRDM10 c.1085G>A p.R362H Substitution - Missense Endometrium COSM932198 RSF1 c.2829C>T p.L943L Substitution - coding silent Endometrium COSM1007247 EPC2 c.1046C>T p.S349F Substitution - Missense Endometrium COSM1045441 SETD2 c.4510G>T p.D1504Y Substitution - Missense Endometrium COSM969918 SRCAP c.817T>C p.S273P Substitution - Missense Endometrium COSM1061319 KDM3B c.1458A>G p.G486G Substitution - coding silent Endometrium COSM1074178 SHPRH c.4691G>C p.R1564P Substitution - Missense Endometrium COSM1124823 ZMYM3 c.24T>C p.S8S Substitution - coding silent Endometrium COSM1124874 TAF1 c.1259A>T p.D420V Substitution - Missense Endometrium COSM1125493 ATRX c.2061G>A p.E687E Substitution - coding silent Endometrium COSM1123023 SMC1A c.3592G>A p.E1198K Substitution - Missense Endometrium COSM1079885 TDRD6 c.1714C>T p.R572* Substitution - Nonsense Stomach COSM1230306 TRIM24 c.623T>C p.V208A Substitution - Missense Large_intestine COSM1209378 HDAC4 c.1867G>T p.G623C Substitution - Missense Breast COSM1213487 LMNB1 c.1006C>T p.R336C Substitution - Missense Large_intestine COSM1176597 TDRD7 c.935A>G p.D312G Substitution - Missense Endometrium COSM1293947 BAZ2B c.1787C>T p.S596L Substitution - Missense Cervix COSM1289714 EP400 c.8181_8182insCAG p.Q2748_T2749insQ Insertion - In frame Large_intestine COSM1333896 SETDB1 c.3458-2A>G p.? Unknown Large_intestine COSM1316630 MTF2 c.1089A>C p.K363N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1394641 KDM4B c.1712C>T p.T571M Substitution - Missense Large_intestine COSM1407106 DNMT3A c.2140T>C p.S714P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1420485 MECOM c.1165_1168delTCAG p.S389fs*46 Deletion - Frameshift Large_intestine COSM1365140 ACTR6 c.3G>A p.M1I Substitution - Missense Large_intestine COSM1348888 SFMBT2 c.1680C>T p.C560C Substitution - coding silent Large_intestine COSM1494841 DNMT3A c.2159G>C p.R720P Substitution - Missense Kidney COSM1622602 KMT2C c.1622-6G>C p.? Unknown Liver COSM1684331 MBD6 c.2155delG p.A719fs*33 Deletion - Frameshift Large_intestine COSM1682624 SMC1A c.2559A>C p.K853N Substitution - Missense Large_intestine COSM1727041 ATF2 c.667A>G p.N223D Substitution - Missense Liver COSM1732032 PBRM1 c.3830T>A p.F1277Y Substitution - Missense Kidney COSM1746934 KDM5A c.881A>T p.Y294F Substitution - Missense Urinary_tract COSM1756769 EP400 c.6312G>T p.M2104I Substitution - Missense Urinary_tract COSM1739892 KMT2D c.10000C>T p.Q3334* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM2151015 ATRX c.529C>T p.Q177* Substitution - Nonsense Central_nervous_system COSM2145537 ERCC6 c.379G>A p.V127I Substitution - Missense Stomach COSM2889237 ASXL1 c.1125G>T p.V375V Substitution - coding silent Large_intestine COSM3053504 SMEK2 c.378T>A p.P126P Substitution - coding silent Upper_aerodigestive_tract COSM3089611 EHMT1 c.427G>A p.A143T Substitution - Missense Stomach COSM3368091 JMJD1C c.1584C>A p.T528T Substitution - coding silent Thyroid COSM3405082 CHD6 c.4058A>C p.Q1353P Substitution - Missense Central_nervous_system COSM3411841 KMT2C c.1183A>G p.K395E Substitution - Missense Central_nervous_system COSM3403745 SMARCA4 c.3144C>T p.H1048H Substitution - coding silent Central_nervous_system COSM3397253 KAT6B c.1663G>A p.G555R Substitution - Missense Upper_aerodigestive_tract COSM3475381 HDGF c.308C>A p.S103Y Substitution - Missense Skin COSM3637551 STK31 c.2091G>A p.Q697Q Substitution - coding silent Skin COSM3626164 BRPF3 c.1484G>A p.R495K Substitution - Missense Skin COSM3704483 ARID1A c.2899A>G p.M967V Substitution - Missense Liver COSM3740643 SETDB1 c.2422T>C p.F808L Substitution - Missense Liver COSM3907607 UHRF2 c.2199C>T p.C733C Substitution - coding silent Prostate COSM3874617 CDYL c.625G>T p.V209L Substitution - Missense Stomach COSM3944557 CDY1 c.1362G>A p.R454R Substitution - coding silent Lung COSM3983766 PRDM14 c.1355T>G p.L452R Substitution - Missense Oesophagus COSM4098461 CHD6 c.2583G>A p.A861A Substitution - coding silent Stomach COSM4092282 SP100 c.1110A>G p.E370E Substitution - coding silent Stomach COSM4114051 ZBTB38 c.1466C>A p.P489H Substitution - Missense Stomach COSM4122217 PHF17 c.542G>A p.R181Q Substitution - Missense Stomach COSM4120574 SETD5_ENST00000402198 c.181A>G p.I61V Substitution - Missense Stomach COSM4071901 ASXL3 c.1432T>A p.S478T Substitution - Missense Stomach COSM4064367 RAI1 c.4429C>T p.P1477S Substitution - Missense Stomach COSM4129609 NCOR1 c.568C>T p.R190* Substitution - Nonsense Upper_aerodigestive_tract COSM4385492 PHF6 c.130A>T p.K44* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4596478 PHF3 c.3407A>C p.K1136T Substitution - Missense Upper_aerodigestive_tract COSM4570943 TDRD1 c.3515T>A p.I1172N Substitution - Missense Skin COSM4554017 MGA c.608G>A p.R203K Substitution - Missense Skin COSM4421341 NSD1 c.5842C>T p.R1948C Substitution - Missense Pleura COSM4725129 SETBP1 c.1923A>C p.K641N Substitution - Missense Large_intestine COSM4766078 DNMT3A c.2478+1delG p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4695849 KIAA2026_ENST00000399933 c.5248A>G p.T1750A Substitution - Missense Large_intestine COSM4665057 BAHCC1 c.7536G>A p.S2512S Substitution - coding silent Large_intestine COSM4665224 BAZ2A_ENST00000379441 c.4677C>T p.S1559S Substitution - coding silent Large_intestine COSM4777332 DNMT3A c.1278A>C p.E426D Substitution - Missense Breast COSM4606374 PHF6 c.890G>A p.C297Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4771388 PBRM1 c.2040_2042CAG>TC p.S681fs*5 Complex - frameshift Kidney COSM4752727 ZMYM4 c.179C>T p.T60I Substitution - Missense Stomach COSM4795900 TRRAP c.4800G>A p.G1600G Substitution - coding silent Liver COSM4792252 SMARCA1 c.319C>G p.H107D Substitution - Missense Liver COSM4778984 ACTR8 c.405+4C>T p.? Unknown Liver COSM4902770 BRDT c.2389-1G>A p.? Unknown Skin COSM4833752 EP300 c.2855C>G p.S952* Substitution - Nonsense Stomach COSM4878934 PHC2 c.1645G>A p.G549S Substitution - Missense Prostate COSM5002451 ARID2 c.3124C>A p.P1042T Substitution - Missense Pancreas COSM4984989 HNF1A c.1460G>A p.S487N Substitution - Missense Liver COSM4980122 BAHCC1 c.4126C>T p.P1376S Substitution - Missense Oesophagus COSM4986281 POGZ c.4086A>C p.E1362D Substitution - Missense Soft_tissue COSM5028381 CBX4 c.540G>A p.A180A Substitution - coding silent Breast COSM5174078 ARID2 c.5041_5042delTC p.S1681fs*8 Deletion - Frameshift Large_intestine COSM5350990 SETD2 c.2258G>T p.R753I Substitution - Missense Lung COSM5343186 DNMT1 c.1847C>T p.T616M Substitution - Missense Large_intestine COSM5401714 PRDM8 c.223G>A p.D75N Substitution - Missense Skin COSM5368010 TCF20 c.536_537insGCA p.Q179_V180insQ Insertion - In frame Large_intestine COSM5516620 SMARCC2 c.1577C>T p.P526L Substitution - Missense Biliary_tract COSM5464213 KDM6B c.32G>A p.R11H Substitution - Missense Large_intestine COSM5446223 MYST1 c.666_667insCA p.Y223fs*67 Insertion - Frameshift Thyroid COSM5735420 SCMH1 c.130C>T p.R44C Substitution - Missense Small_intestine COSM5737754 NCOA7 c.2321C>T p.P774L Substitution - Missense Small_intestine COSM5620930 HCFC1 c.3820G>A p.V1274I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5618602 ATAD2 c.2374C>T p.R792* Substitution - Nonsense Breast COSM5696870 PHF21A c.1434G>T p.K478N Substitution - Missense Soft_tissue COSM5704914 SETDB1 c.1297C>T p.Q433* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5775116 CDYL2 c.259G>A p.E87K Substitution - Missense Breast COSM5907701 PHF12 c.2609C>T p.S870L Substitution - Missense Skin COSM5923782 MLL5 c.4837C>T p.Q1613* Substitution - Nonsense Skin COSM5916231 KDM5A c.3100C>T p.P1034S Substitution - Missense Skin COSM5945935 ARID1A c.1268G>A p.G423E Substitution - Missense Skin COSM6019283 NCOA1 c.1250G>A p.R417K Substitution - Missense Skin COSM5985152 DNMT3A c.1225T>C p.W409R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5994796 PBRM1 c.171C>G p.I57M Substitution - Missense Prostate COSM5972136 SUZ12 c.140G>C p.G47A Substitution - Missense Upper_aerodigestive_tract COSM85769 EZH2 c.? p.Y646? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM303903 DNMT3A c.2323_2408del86 p.S775fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM1636668 ARID1A c.? p.G414* Substitution - Nonsense Urinary_tract COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM132980 ASXL1 c.? p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4972323 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1238047 ARID1A c.? p.Q1334_R1335insQ Insertion - In frame Biliary_tract COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM86077 IDH2 c.? p.R172M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1469601 BRWD3 c.1162G>A p.A388T Substitution - Missense Large_intestine COSM4695053 KDM6B c.1432_1433insA p.R478fs*32 Insertion - Frameshift Large_intestine COSM86082 KMT2C c.2418C>G p.S806S Substitution - coding silent Soft_tissue COSM5516779 BPTF c.6187G>A p.V2063M Substitution - Missense Biliary_tract COSM939702 HDAC7 c.2704G>A p.A902T Substitution - Missense Endometrium COSM921417 BTAF1 c.502C>T p.L168F Substitution - Missense Endometrium COSM4607633 GTF3C1 c.2000C>A p.S667Y Substitution - Missense Adrenal_gland COSM36248 IDH1 c.? p.R132? Substitution - Missense Bone COSM1101 SMARCB1 c.?_?del? p.?del Deletion - In frame Soft_tissue COSM5052994 RBBP5 c.659G>A p.R220Q Substitution - Missense Stomach COSM5480555 KDM6A c.4051C>T p.R1351* Substitution - Nonsense Large_intestine COSM3991701 CHD6 c.4955C>T p.S1652L Substitution - Missense Kidney COSM1180740 BTAF1 c.3431delT p.L1146fs*27 Deletion - Frameshift Large_intestine COSM3653746 PHF19 c.1494C>T p.C498C Substitution - coding silent Skin COSM4960754 ASXL1 c.2660C>T p.T887I Substitution - Missense Liver COSM4542032 PBRM1 c.3186G>A p.R1062R Substitution - coding silent Skin COSM213955 ARID2 c.2776G>A p.V926I Substitution - Missense Breast COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Soft_tissue COSM4384158 MLL5 c.3443C>T p.P1148L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4500008 PRDM12 c.555C>T p.F185F Substitution - coding silent Skin COSM5562858 TRIM33 c.2129C>T p.P710L Substitution - Missense Prostate COSM43427 TET2 c.4609C>T p.Q1537* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5012209 HELLS c.2012T>G p.L671* Substitution - Nonsense Kidney COSM946204 RNF17 c.1483A>G p.N495D Substitution - Missense Endometrium COSM4404189 PBRM1 c.2105A>C p.K702T Substitution - Missense Skin COSM1109605 KDM4C c.2356C>T p.R786* Substitution - Nonsense Liver COSM1699619 KMT2C c.11809G>T p.E3937* Substitution - Nonsense Skin COSM1638920 KAT5 c.359G>A p.R120H Substitution - Missense Stomach COSM143705 KDM6B c.2426_2427CC>TT p.S809F Substitution - Missense Skin COSM4632390 JARID2 c.1682G>T p.R561M Substitution - Missense Large_intestine COSM2768710 SND1 c.1288G>A p.E430K Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM5824063 KMT2C c.577A>G p.R193G Substitution - Missense Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Liver COSM144626 PHF6 c.955C>T p.R319* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5055837 KDM6B c.3423C>T p.D1141D Substitution - coding silent Stomach COSM331949 DIDO1 c.3660G>T p.P1220P Substitution - coding silent Lung COSM4952570 BAHCC1 c.942G>T p.V314V Substitution - coding silent Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM1635198 KMT2C c.2185A>G p.N729D Substitution - Missense Upper_aerodigestive_tract COSM415867 KDM5A c.3037-1G>C p.? Unknown Urinary_tract COSM3758729 DIDO1 c.4702A>G p.T1568A Substitution - Missense Large_intestine COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM24931 HNF1A c.620G>A p.G207D Substitution - Missense Liver COSM41292 IDH1 c.? p.R132G Substitution - Missense Biliary_tract COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1312873 KMT2C c.5272C>T p.R1758C Substitution - Missense Thyroid COSM4042579 SMARCD1 c.421C>T p.R141W Substitution - Missense Stomach COSM387409 WHSC1 c.2863G>A p.G955R Substitution - Missense Lung COSM4767575 KMT2C c.10968C>T p.A3656A Substitution - coding silent Biliary_tract COSM531051 TDRD5 c.2190G>T p.L730L Substitution - coding silent Skin COSM5734310 TRRAP c.4184A>T p.N1395I Substitution - Missense Pancreas COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM4384959 PHF12 c.2816C>G p.A939G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1131645 KMT2C c.2710C>T p.R904* Substitution - Nonsense Bone COSM255877 PRDM15 c.2073C>T p.T691T Substitution - coding silent Central_nervous_system COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM3576959 IDH1 c.22G>A p.G8S Substitution - Missense Skin COSM4931967 SUV39H1 c.259A>T p.K87* Substitution - Nonsense Liver COSM4489626 PRDM15 c.3504C>T p.F1168F Substitution - coding silent Skin COSM4735987 TIF1 c.835_836insA p.T281fs*17 Insertion - Frameshift Large_intestine COSM4625016 ACTL6A c.366G>A p.M122I Substitution - Missense Large_intestine COSM916359 PWWP2B c.1133C>T p.A378V Substitution - Missense Endometrium COSM471641 SRCAP c.4125C>T p.L1375L Substitution - coding silent Kidney COSM133138 DNMT3A c.2729C>T p.A910V Substitution - Missense Endometrium COSM723127 ASXL1 c.1322C>T p.S441F Substitution - Missense Lung COSM5631262 KMT2D c.9820G>A p.A3274T Substitution - Missense Oesophagus COSM6013748 SFMBT2 c.871-7C>T p.? Unknown Skin COSM4541818 KDM5D c.2983G>A p.E995K Substitution - Missense Skin COSM742768 TDRD6 c.1115T>A p.V372E Substitution - Missense Lung COSM1333449 PRDM2 c.852T>A p.D284E Substitution - Missense Lung COSM987406 SMCHD1 c.1073G>A p.G358D Substitution - Missense Ovary COSM414736 BRDT c.1510G>A p.E504K Substitution - Missense Urinary_tract COSM3694097 TCF20 c.841G>T p.A281S Substitution - Missense Large_intestine COSM4665986 BPTF c.597C>A p.T199T Substitution - coding silent Large_intestine COSM4498965 PHF3 c.5315C>T p.P1772L Substitution - Missense Skin COSM21484 HNF1A c.495G>T p.W165C Substitution - Missense Liver COSM5802112 JMJD1C c.6799delA p.I2267fs*21 Deletion - Frameshift Breast COSM1670724 FXR1 c.2T>C p.M1T Substitution - Missense Skin COSM320611 GLYATL1 c.349G>C p.E117Q Substitution - Missense Lung COSM294174 BRWD1 c.2659C>T p.R887* Substitution - Nonsense Large_intestine COSM4770756 BAP1 c.1497delC p.I499fs*72 Deletion - Frameshift Pleura COSM5944262 TET2 c.1747_1750delGAGG p.E583fs*17 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3097140 ATRX c.1920T>C p.V640V Substitution - coding silent Large_intestine COSM6003893 TRIM28 c.2205T>C p.G735G Substitution - coding silent Prostate COSM4162024 KMT2C c.946A>T p.T316S Substitution - Missense Upper_aerodigestive_tract COSM3180208 SUZ12 c.1146_1147delAG p.L385fs*10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3958145 PHF12 c.558C>A p.D186E Substitution - Missense Lung COSM909995 DMAP1 c.612C>T p.N204N Substitution - coding silent Endometrium COSM1303243 BPTF c.6738G>A p.Q2246Q Substitution - coding silent Urinary_tract COSM3550993 PRDM15 c.2859+2T>C p.? Unknown Skin COSM6013358 SMARCA2 c.2348+3A>G p.? Unknown Skin COSM1449816 HDAC9 c.1041G>A p.S347S Substitution - coding silent Large_intestine COSM5637734 JMJD1C c.6025T>C p.S2009P Substitution - Missense Oesophagus COSM3547349 ZMYND8 c.3045G>A p.W1015* Substitution - Nonsense Skin COSM4846777 SETD5_ENST00000402198 c.394G>C p.D132H Substitution - Missense Cervix COSM5722289 INOC1 c.721C>T p.P241S Substitution - Missense Skin COSM4970529 PRDM2 c.849T>A p.D283E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5362605 ARID4A c.865G>T p.E289* Substitution - Nonsense Large_intestine COSM1321256 SIRT1 c.477C>T p.S159S Substitution - coding silent Ovary COSM1166673 KDM5A c.965G>A p.C322Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5978348 MSH6 c.3151G>A p.V1051I Substitution - Missense Upper_aerodigestive_tract COSM4841395 GABRG1 c.782C>T p.T261I Substitution - Missense Cervix COSM234032 SP110 c.1834T>G p.L612V Substitution - Missense Skin COSM5807705 SETD2 c.2209T>C p.S737P Substitution - Missense Liver COSM1184405 BAHD1 c.1598G>A p.R533H Substitution - Missense Large_intestine COSM5793278 GLYATL1 c.24+2C>G p.? Unknown Breast COSM4494617 DNMT3L c.436C>T p.L146L Substitution - coding silent Skin COSM3777992 MLL5 c.1716G>A p.R572R Substitution - coding silent Urinary_tract COSM3858843 SHPRH c.3462G>C p.V1154V Substitution - coding silent Stomach COSM252807 SETD3 c.1078G>A p.A360T Substitution - Missense Ovary COSM1027536 NCOA3 c.993A>G p.P331P Substitution - coding silent Endometrium COSM2919997 CREBBP c.3323C>T p.S1108L Substitution - Missense Breast COSM5592505 PHIP c.2020T>C p.S674P Substitution - Missense Skin COSM1719155 INOC1 c.4484C>T p.S1495F Substitution - Missense Skin COSM1249109 CREBBP c.4209C>T p.D1403D Substitution - coding silent Oesophagus COSM5921093 BPTF c.6569C>T p.P2190L Substitution - Missense Skin COSM3704482 ARID1A c.2879-1G>A p.? Unknown Liver COSM302683 MTA1 c.1850C>A p.P617Q Substitution - Missense Central_nervous_system COSM5757632 KMT2D c.553C>T p.R185C Substitution - Missense Eye COSM1099593 WHSC1L1 c.1010A>C p.E337A Substitution - Missense Endometrium COSM1180697 PYGO2 c.448delC p.Q150fs*11 Deletion - Frameshift Pancreas COSM3911758 DIDO1 c.6291G>A p.E2097E Substitution - coding silent Skin COSM3460383 KDM5A c.5143A>G p.M1715V Substitution - Missense Skin COSM1662794 MLL5 c.1783G>A p.E595K Substitution - Missense Kidney COSM4385532 TET2 c.25G>A p.V9I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1134721 ASH1L c.294A>G p.K98K Substitution - coding silent Kidney COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4476638 EP300 c.2083C>T p.R695C Substitution - Missense Skin COSM3866549 TDRD1 c.3183G>A p.M1061I Substitution - Missense Skin COSM5600552 SP110 c.733C>T p.P245S Substitution - Missense Skin COSM2064421 TDG c.638G>A p.R213H Substitution - Missense Large_intestine COSM4155298 PHIP c.5062C>G p.P1688A Substitution - Missense Kidney COSM437708 CBX8 c.950G>T p.G317V Substitution - Missense Large_intestine COSM1661130 CHD8 c.1405A>G p.I469V Substitution - Missense Kidney COSM3529616 BRD4 c.136C>T p.P46S Substitution - Missense Skin COSM1026055 NCOA6 c.5785G>A p.A1929T Substitution - Missense Endometrium COSM5088420 CXXC1 c.840A>C p.S280S Substitution - coding silent Large_intestine COSM478789 SMARCB1 c.424T>A p.L142I Substitution - Missense Kidney COSM5442019 KDM6A c.1799G>A p.G600E Substitution - Missense Oesophagus COSM3957564 CREBBP c.5048G>C p.R1683P Substitution - Missense Lung COSM3913711 RBBP7 c.943C>T p.H315Y Substitution - Missense Skin COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5606937 POGZ c.1417T>A p.Y473N Substitution - Missense Skin COSM1670247 PHF7 c.979G>T p.E327* Substitution - Nonsense Large_intestine COSM4795596 PRDM16 c.3012G>A p.K1004K Substitution - coding silent Liver COSM1465246 ZBTB33 c.563_564insTGA p.D194_V195insD Insertion - In frame Upper_aerodigestive_tract COSM5687550 CBX1 c.500G>A p.R167K Substitution - Missense Soft_tissue COSM2068405 KDM5A c.432T>C p.S144S Substitution - coding silent Upper_aerodigestive_tract COSM1439345 CHD1 c.698G>A p.R233H Substitution - Missense Large_intestine COSM277583 TAF1 c.3662G>A p.R1221Q Substitution - Missense Cervix COSM4151565 NCOA2 c.3904C>T p.P1302S Substitution - Missense Ovary COSM5783608 CHD4 c.2257A>G p.M753V Substitution - Missense Breast COSM4950837 HNF1A c.1621_1624-4del93 p.? Unknown Liver COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM13881 MBD4 c.1418T>G p.M473R Substitution - Missense Lung COSM1734464 MGA c.1852C>T p.R618* Substitution - Nonsense Pancreas COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1377475 SRCAP c.5626delC p.P1878fs*89 Deletion - Frameshift Stomach COSM100052 TET2 c.1342_1342delG p.E448fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM746389 STK31 c.203T>A p.V68D Substitution - Missense Lung COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4989042 CHD7 c.805G>A p.V269I Substitution - Missense Soft_tissue COSM1017592 SP110 c.166A>C p.R56R Substitution - coding silent Endometrium COSM1412243 ZMYND8 c.1120C>T p.R374C Substitution - Missense Large_intestine COSM3460984 ARID2 c.5026C>T p.Q1676* Substitution - Nonsense Skin COSM1183572 ARID2 c.881G>T p.R294I Substitution - Missense Large_intestine COSM3744828 PRDM9 c.79G>A p.A27T Substitution - Missense Liver COSM5818467 EYA2 c.1205T>A p.I402K Substitution - Missense Liver COSM3871582 KDM5A c.2155C>T p.R719C Substitution - Missense Skin COSM3909080 PHF2 c.2038G>A p.V680M Substitution - Missense Stomach COSM26577 MECOM c.2286-1G>A p.? Unknown Skin COSM1583088 DNMT3A c.1904G>A p.R635Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4598052 KDM2A c.1282G>A p.D428N Substitution - Missense Upper_aerodigestive_tract COSM1039197 ZBTB38 c.1163G>A p.R388Q Substitution - Missense Endometrium COSM4501826 KMT2D c.5181C>T p.S1727S Substitution - coding silent Skin COSM4717521 PRDM9 c.557G>T p.R186I Substitution - Missense Large_intestine COSM3716292 KIAA2026_ENST00000399933 c.3452C>T p.S1151L Substitution - Missense Upper_aerodigestive_tract COSM5471810 PRDM5 c.1860C>T p.H620H Substitution - coding silent Large_intestine COSM4882465 PHIP c.376G>T p.A126S Substitution - Missense Upper_aerodigestive_tract COSM5441273 EZH1 c.1476G>T p.K492N Substitution - Missense Oesophagus COSM1201012 CHD8 c.5623A>G p.I1875V Substitution - Missense Large_intestine COSM4790584 KAT2B c.2380C>T p.R794* Substitution - Nonsense Liver COSM4852995 CREBBP c.3172G>T p.E1058* Substitution - Nonsense Cervix COSM1462657 KIAA2026_ENST00000399933 c.793delA p.R265fs*18 Deletion - Frameshift Large_intestine COSM3873112 RING1 c.869C>T p.A290V Substitution - Missense Stomach COSM1563983 DNMT1 c.3672G>C p.P1224P Substitution - coding silent Large_intestine COSM1716180 EZH2 c.? p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM377041 SRCAP c.7199G>T p.R2400L Substitution - Missense Lung COSM3907679 KDM4C c.2762C>T p.T921I Substitution - Missense Stomach COSM4414644 HDAC5 c.2546C>G p.A849G Substitution - Missense Kidney COSM3742489 CHD3 c.5905C>T p.L1969F Substitution - Missense Liver COSM3715468 BAG6 c.1777C>T p.Q593* Substitution - Nonsense Upper_aerodigestive_tract COSM2042556 SUV420H1 c.490C>T p.R164W Substitution - Missense Large_intestine COSM5008116 EP400 c.122C>A p.P41H Substitution - Missense Large_intestine COSM1111292 PHF2 c.448G>A p.E150K Substitution - Missense Endometrium COSM1658924 ACTB c.277G>A p.E93K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Soft_tissue COSM4410598 PBRM1 c.1168_1169insT p.Y390fs*2 Insertion - Frameshift Kidney COSM4652335 ARID1A c.2331C>T p.S777S Substitution - coding silent Large_intestine COSM5670132 KIAA2026_ENST00000399933 c.1558A>G p.S520G Substitution - Missense Soft_tissue COSM4383601 DNMT3A c.955delA p.S319fs*26 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2150924 ZMYM3 c.2219G>A p.R740H Substitution - Missense Central_nervous_system COSM713512 UHRF1 c.743G>A p.R248Q Substitution - Missense Lung COSM1184753 BMI1 c.821G>A p.S274N Substitution - Missense Large_intestine COSM1351667 KMT2A c.10200G>A p.P3400P Substitution - coding silent Large_intestine COSM4996350 SMARCC1 c.206C>T p.A69V Substitution - Missense Upper_aerodigestive_tract COSM5721935 KMT2D c.7901C>T p.P2634L Substitution - Missense Skin COSM894488 TTF2 c.1122G>A p.S374S Substitution - coding silent Endometrium COSM1749629 GLYR1 c.1351A>G p.I451V Substitution - Missense Urinary_tract COSM1665355 ARID1A c.2397delG p.G801fs*32 Deletion - Frameshift Kidney COSM4430098 ELP3 c.1554C>A p.I518I Substitution - coding silent Oesophagus COSM2889239 ASXL1 c.1197A>T p.P399P Substitution - coding silent Oesophagus COSM5945808 BAP1 c.362_375+10del24 p.? Unknown Pleura COSM3925441 CHD7 c.3640C>T p.Q1214* Substitution - Nonsense Skin COSM4563005 ACTA1 c.952G>A p.E318K Substitution - Missense Skin COSM5599468 EP400 c.5622G>A p.L1874L Substitution - coding silent Skin COSM4974189 PRDM16 c.2753C>G p.S918W Substitution - Missense Oesophagus COSM3463546 BAZ2A_ENST00000379441 c.811C>T p.P271S Substitution - Missense Skin COSM4059613 JMJD5 c.285C>T p.Y95Y Substitution - coding silent Stomach COSM3461581 KMT2D c.5484C>T p.D1828D Substitution - coding silent Skin COSM21471 HNF1A c.617G>T p.W206L Substitution - Missense Liver COSM3932818 SMCHD1 c.466G>A p.V156I Substitution - Missense Kidney COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3656867 TAF1L c.1263C>T p.F421F Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5960090 PRMT7 c.926A>G p.Q309R Substitution - Missense Thyroid COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM284283 PRMT7 c.134A>G p.N45S Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3300274 BAZ2B c.2691A>G p.Q897Q Substitution - coding silent Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM43525 TET2 c.2650_2651insC p.Q884fs*17 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4172348 TET2 c.4327_4328insC p.I1444fs*34 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3642826 TRRAP c.9054C>T p.I3018I Substitution - coding silent Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3650067 CHD7 c.1543C>T p.P515S Substitution - Missense Skin COSM1309600 INTS12 c.328G>A p.E110K Substitution - Missense Urinary_tract COSM1101446 EYA1 c.1703C>T p.A568V Substitution - Missense Endometrium COSM3438386 ERCC6 c.1862T>C p.L621S Substitution - Missense Skin COSM150037 CDYL c.25T>C p.S9P Substitution - Missense Stomach COSM3831522 MLL5 c.260A>G p.N87S Substitution - Missense Breast COSM1660736 BAZ2B c.3676A>G p.S1226G Substitution - Missense Kidney COSM686092 BTAF1 c.1773G>C p.L591F Substitution - Missense Lung COSM3785677 EP300 c.5568G>A p.T1856T Substitution - coding silent Pancreas COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM5633665 EPC1 c.1924A>G p.T642A Substitution - Missense Oesophagus COSM3947828 CHD1 c.2890G>A p.E964K Substitution - Missense Lung COSM133718 DNMT3A c.1477_1477delA p.I493fs*158 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM4385040 DNMT1 c.2428G>C p.D810H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4446294 KDM5A c.2541+3G>A p.? Unknown Skin COSM3995681 BAZ1B c.624A>G p.G208G Substitution - coding silent Kidney COSM3707009 SETD1A c.1769G>A p.R590Q Substitution - Missense Liver COSM3608887 BRD8 c.1775C>T p.P592L Substitution - Missense Skin COSM1479271 NCOR1 c.2170G>T p.E724* Substitution - Nonsense Breast COSM3699793 PHF2 c.873C>T p.S291S Substitution - coding silent Large_intestine COSM3911153 NCOA6 c.4674C>T p.S1558S Substitution - coding silent Skin COSM4630386 MBD1 c.1040G>A p.R347Q Substitution - Missense Small_intestine COSM1209425 HDGF c.400G>A p.D134N Substitution - Missense Liver COSM978479 PCGF2 c.17G>A p.R6Q Substitution - Missense Endometrium COSM1378356 FTO c.1391T>C p.L464S Substitution - Missense Large_intestine COSM110784 TET2 c.4757C>A p.S1586* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM239309 CHD3 c.2366T>G p.L789R Substitution - Missense Prostate COSM5048265 MSH6 c.3016T>C p.Y1006H Substitution - Missense Oesophagus COSM1194694 PHF6 c.70A>G p.R24G Substitution - Missense Lung COSM2157116 EPC1 c.964A>G p.K322E Substitution - Missense Central_nervous_system COSM5986177 SETD2 c.3751T>C p.C1251R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24595 SMARCB1 c.157C>T p.R53* Substitution - Nonsense Central_nervous_system COSM4916924 HDAC7 c.391A>C p.S131R Substitution - Missense Liver COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24938 HNF1A c.527-2A>G p.? Unknown Liver COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM29382 SMARCB1 c.1143delG p.A382fs*5 Deletion - Frameshift Central_nervous_system COSM43420 TET2 c.4546C>T p.R1516* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM83884 ARID1A c.3826C>T p.R1276* Substitution - Nonsense Endometrium COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Pancreas COSM109632 BRWD1 c.6464C>T p.S2155F Substitution - Missense Skin COSM96400 ASXL1 c.1774C>T p.Q592* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM122354 CREBBP c.4561G>T p.D1521Y Substitution - Missense Upper_aerodigestive_tract COSM125566 PRDM9 c.104T>A p.F35Y Substitution - Missense Upper_aerodigestive_tract COSM126733 GTF3C1 c.3089C>G p.S1030* Substitution - Nonsense Upper_aerodigestive_tract COSM133737 DNMT3A c.2207G>A p.R736H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM140083 GLYR1 c.1135G>A p.G379R Substitution - Missense Skin COSM211725 TET2 c.3860T>C p.F1287S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM215752 SMARCA4 c.3694G>A p.G1232S Substitution - Missense Pancreas COSM246962 RBBP4 c.736G>T p.V246F Substitution - Missense Prostate COSM333636 DIDO1 c.5969G>A p.G1990D Substitution - Missense Lung COSM331168 SMYD2 c.850G>T p.D284Y Substitution - Missense Lung COSM336830 PRDM9 c.2576C>A p.P859H Substitution - Missense Lung COSM351203 PRDM9 c.942C>A p.N314K Substitution - Missense Lung COSM364440 SETBP1 c.1911G>A p.P637P Substitution - coding silent Lung COSM423068 PBRM1 c.1411delA p.K471fs*4 Deletion - Frameshift Kidney COSM436257 PHF12 c.2191C>T p.R731* Substitution - Nonsense Endometrium COSM465212 RNF134 c.77C>A p.P26Q Substitution - Missense Kidney COSM918658 ERCC6 c.2859G>C p.Q953H Substitution - Missense Endometrium COSM692232 EP400 c.483C>G p.L161L Substitution - coding silent Lung COSM1646575 ZMYM2 c.816G>C p.Q272H Substitution - Missense Lung COSM1047100 PBRM1 c.787_789delAAT p.N263delN Deletion - In frame Endometrium COSM742335 DAXX c.1168G>A p.E390K Substitution - Missense Lung COSM743366 PHF3 c.719G>A p.C240Y Substitution - Missense Lung COSM744987 EZH2 c.1029C>G p.L343L Substitution - coding silent Lung COSM720290 SP140_ENST00000392045 c.1987C>T p.P663S Substitution - Missense Lung COSM900298 TDRD5 c.950C>A p.S317Y Substitution - Missense Endometrium COSM905240 ACTA1 c.592C>T p.R198C Substitution - Missense Stomach COSM932712 EED c.806G>T p.R269I Substitution - Missense Endometrium COSM1040976 MECOM c.34G>A p.A12T Substitution - Missense Endometrium COSM969931 SRCAP c.3883G>T p.A1295S Substitution - Missense Endometrium COSM1109599 KDM4C c.2156C>G p.A719G Substitution - Missense Endometrium COSM1117705 HCFC1 c.5190C>A p.H1730Q Substitution - Missense Endometrium COSM1130019 DNMT1 c.2189G>A p.R730H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1239637 NSD1 c.4966+2T>C p.? Unknown Oesophagus COSM1240001 RAG2 c.1105A>G p.T369A Substitution - Missense Liver COSM1250078 DIDO1 c.1087G>T p.D363Y Substitution - Missense Oesophagus COSM1195035 BMI1 c.766G>T p.D256Y Substitution - Missense Lung COSM1180905 HDAC4 c.2703delC p.M902fs*55 Deletion - Frameshift Large_intestine COSM1205369 EP300 c.4397G>T p.W1466L Substitution - Missense Large_intestine COSM1183858 ATAD2B_ENST00000238789 c.1490T>C p.M497T Substitution - Missense Large_intestine COSM1162748 BRD9 c.928A>T p.M310L Substitution - Missense Upper_aerodigestive_tract COSM1204302 DNMT3B c.2048G>A p.R683H Substitution - Missense Large_intestine COSM1161969 HDAC6 c.1765C>A p.L589M Substitution - Missense Kidney COSM1172567 SMARCA4 c.2933G>A p.R978Q Substitution - Missense Oesophagus COSM1270921 ZGPAT c.1571C>T p.T524I Substitution - Missense Oesophagus COSM1377597 MYST1 c.961delC p.Y323fs*48 Deletion - Frameshift Large_intestine COSM1380024 CDYL2 c.114G>A p.T38T Substitution - coding silent Large_intestine COSM1437262 NIPBL c.1801delA p.K603fs*11 Deletion - Frameshift Large_intestine COSM1457705 CHD7 c.3674A>G p.N1225S Substitution - Missense Large_intestine COSM1363769 CHD4 c.1412A>G p.Y471C Substitution - Missense Large_intestine COSM1363776 CHD4 c.417G>T p.E139D Substitution - Missense Soft_tissue COSM1341430 ARID1A c.6415delC p.F2141fs*59 Deletion - Frameshift Large_intestine COSM1608337 INOC1 c.928-3C>G p.? Unknown Liver COSM1607782 ARID4A c.1655+3A>G p.? Unknown Liver COSM1583138 DNMT3A c.1661G>A p.C554Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1625592 FMR1 c.1603G>T p.G535* Substitution - Nonsense Liver COSM1583096 DNMT3A c.2172_2173insA p.E725fs*9 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1622997 ACTB c.424C>T p.L142L Substitution - coding silent Liver COSM1710673 BPTF c.977G>A p.W326* Substitution - Nonsense Skin COSM2002880 ATF7IP c.3508C>T p.R1170C Substitution - Missense Large_intestine COSM2151288 BAZ2A c.1595C>T p.S532F Substitution - Missense Central_nervous_system COSM2140924 CHD2 c.3286C>A p.Q1096K Substitution - Missense Large_intestine COSM2780454 SFMBT1 c.1043delC p.P348fs*31 Deletion - Frameshift Large_intestine COSM52800 PBRM1 c.851delA p.K284fs*16 Deletion - Frameshift Kidney COSM3358771 ERCC6 c.1245G>A p.K415K Substitution - coding silent Kidney COSM3391846 SMYD5 c.532G>A p.A178T Substitution - Missense Pancreas COSM3450659 PHRF1 c.3726C>T p.P1242P Substitution - coding silent Skin COSM3473536 SETDB1 c.2003G>A p.R668Q Substitution - Missense Skin COSM3636453 KMT2C c.13401G>A p.K4467K Substitution - coding silent Skin COSM3578896 SP140_ENST00000392045 c.901G>A p.D301N Substitution - Missense Skin COSM3550994 PRDM15 c.2334G>C p.E778D Substitution - Missense Skin COSM3557312 ZBTB33 c.1772C>T p.S591F Substitution - Missense Skin COSM3666442 PHRF1 c.662C>T p.P221L Substitution - Missense Biliary_tract COSM3724498 SMARCA4 c.4170+1G>A p.? Unknown Ovary COSM3729117 KDM1A c.2135G>A p.R712K Substitution - Missense Stomach COSM3719516 TET2 c.3730_3731delCT p.Y1245fs*22 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3754331 TP53BP1 c.2487T>C p.D829D Substitution - coding silent Large_intestine COSM3807472 JMJD1C c.2680G>T p.E894* Substitution - Nonsense Breast COSM3820847 CBX8 c.1081G>C p.V361L Substitution - Missense Breast COSM3899971 WHSC1L1 c.325A>G p.T109A Substitution - Missense Stomach COSM3883692 TRRAP c.320G>A p.R107H Substitution - Missense Stomach COSM3948313 ARID1B c.2042G>A p.G681D Substitution - Missense Lung COSM4028648 LBR c.1748G>A p.R583Q Substitution - Missense Stomach COSM4037889 ACTR6 c.995G>A p.R332Q Substitution - Missense Stomach COSM4034545 PHRF1 c.2464A>G p.K822E Substitution - Missense Stomach COSM3989875 DOT1L c.365C>G p.P122R Substitution - Missense Kidney COSM4058021 CHD2 c.1302A>G p.G434G Substitution - coding silent Stomach COSM4135358 SETD2 c.4609C>T p.R1537* Substitution - Nonsense Pancreas COSM4384280 EZH2 c.1408C>T p.Q470* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4399728 EZH1 c.1466C>T p.P489L Substitution - Missense Skin COSM4565265 KDM6B c.1921_1922GG>AA p.G641K Substitution - Missense Skin COSM4522165 SMARCD3 c.1110G>A p.Q370Q Substitution - coding silent Skin COSM4524593 LMNB1 c.1280G>T p.S427I Substitution - Missense Skin COSM4544868 DNMT1 c.3606G>A p.E1202E Substitution - coding silent Skin COSM4440419 GTF3C1 c.557G>A p.R186Q Substitution - Missense Large_intestine COSM4462015 PYGO2 c.122C>T p.P41L Substitution - Missense Skin COSM4474138 SETD1A c.1899C>T p.L633L Substitution - coding silent Skin COSM4475224 POGZ c.1971C>T p.L657L Substitution - coding silent Skin COSM4771417 PBRM1 c.2756_2761delTAAAAC p.L919_K920del Deletion - In frame Kidney COSM4720048 RAI1 c.1132A>G p.S378G Substitution - Missense Large_intestine COSM4705936 NCOA1 c.746G>A p.R249Q Substitution - Missense Large_intestine COSM4713892 PHC2 c.2325T>C p.H775H Substitution - coding silent Large_intestine COSM4669578 CBX7 c.689T>C p.I230T Substitution - Missense Large_intestine COSM4611655 HDAC2 c.33delA p.V12fs*20 Deletion - Frameshift Large_intestine COSM4650316 HDAC7 c.1385G>A p.R462Q Substitution - Missense Large_intestine COSM4623705 BAHCC1 c.5704C>A p.L1902M Substitution - Missense Large_intestine COSM4606483 MYST3 c.5539G>T p.G1847W Substitution - Missense Large_intestine COSM4887624 MUM1 c.1021C>A p.R341S Substitution - Missense Upper_aerodigestive_tract COSM4934469 KIAA2026_ENST00000399933 c.4938A>G p.S1646S Substitution - coding silent Liver COSM5005083 PRDM12 c.507C>T p.N169N Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5017210 SMC1A c.2819T>G p.L940W Substitution - Missense Kidney COSM5021554 KMT2C c.1185-8T>C p.? Unknown Bone COSM5006998 VPS72 c.905G>A p.R302Q Substitution - Missense Large_intestine COSM5009125 KMT2C c.6774A>G p.G2258G Substitution - coding silent Large_intestine COSM5052557 TDRKH c.1194A>G p.P398P Substitution - coding silent Stomach COSM5357081 PHF10 c.62-5delT p.? Unknown Large_intestine COSM5472106 NIPBL c.8096C>T p.A2699V Substitution - Missense Large_intestine COSM5466165 GABRG1 c.597A>G p.E199E Substitution - coding silent Large_intestine COSM5447270 MBD1 c.1203A>G p.P401P Substitution - coding silent Large_intestine COSM5646208 KMT2D c.1031C>T p.S344F Substitution - Missense Oesophagus COSM5751385 EED c.1240_1241insT p.R414fs*6 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5759660 KMT2D c.14787_14788insT p.H4930fs*2 Insertion - Frameshift Bone COSM5739390 RSF1 c.3558C>A p.D1186E Substitution - Missense Small_intestine COSM5742623 ARID2 c.4922+1G>A p.? Unknown Small_intestine COSM5748960 ZMYM3 c.2206C>T p.R736C Substitution - Missense Pancreas COSM5588626 PHF8 c.2869C>T p.R957C Substitution - Missense Skin COSM5607878 ARID2 c.4723C>T p.Q1575* Substitution - Nonsense Skin COSM5602140 PSIP1 c.819C>T p.S273S Substitution - coding silent Skin COSM5604835 SETD1A c.1860C>T p.S620S Substitution - coding silent Skin COSM5675043 RERE c.1692T>C p.D564D Substitution - coding silent Soft_tissue COSM5750145 TCF20 c.818A>G p.E273G Substitution - Missense Stomach COSM5574258 CHD6 c.451G>A p.A151T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5549257 SND1 c.742G>T p.A248S Substitution - Missense Prostate COSM5556120 PHF15 c.262G>T p.G88C Substitution - Missense Prostate COSM5763149 ELP3 c.1062C>T p.A354A Substitution - coding silent Large_intestine COSM5569717 ZMYM1 c.896C>A p.T299K Substitution - Missense Prostate COSM5821644 KDM2A c.1057G>T p.E353* Substitution - Nonsense Liver COSM5805596 PHC1 c.570G>T p.V190V Substitution - coding silent Liver COSM5944287 TET2 c.3413delA p.I1139fs*13 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5944377 ASXL1 c.1888_1892delCACCA p.H630fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5921414 DOT1L c.3633C>A p.S1211R Substitution - Missense Skin COSM5925630 RAG2 c.614C>T p.S205F Substitution - Missense Skin COSM5944128 EZH2 c.1964A>G p.E655G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6006516 HDAC1 c.1168C>T p.P390S Substitution - Missense Prostate COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM1169683 TET2 c.? p.K450* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM5031029 KMT2D c.? p.?fs Frameshift Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM166348 DNMT3A c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM132980 ASXL1 c.? p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM86975 IKZF1 c.1-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53118 TET2 c.? p.V872fs*44 Frameshift Haematopoietic_and_lymphoid_tissue COSM1169609 TET2 c.? p.T1114I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1333455 PRDM2 c.2883G>A p.L961L Substitution - coding silent Large_intestine COSM355705 TAF1 c.2023G>T p.D675Y Substitution - Missense Lung COSM86082 KMT2C c.2418C>G p.S806S Substitution - coding silent Soft_tissue COSM702822 GTF3C1 c.3849C>A p.L1283L Substitution - coding silent Lung COSM5726402 NIPBL c.1470C>T p.R490R Substitution - coding silent Skin COSM5921225 RAI1 c.2009C>T p.S670F Substitution - Missense Skin COSM36248 IDH1 c.? p.R132? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4424461 GATAD2B c.343G>A p.E115K Substitution - Missense Oesophagus COSM4011355 PCGF6 c.381G>C p.E127D Substitution - Missense Stomach COSM1307479 EYA2 c.156-1G>C p.? Unknown Urinary_tract COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM3656604 SMARCA2 c.4108C>T p.R1370C Substitution - Missense Large_intestine COSM1602150 ARID1A c.4494G>A p.W1498* Substitution - Nonsense Liver COSM4949692 YEATS4 c.624A>G p.I208M Substitution - Missense Liver COSM5713242 TDRD3 c.938_940delATA p.N315delN Deletion - In frame Central_nervous_system COSM5749405 PHF14 c.2223A>T p.L741F Substitution - Missense Genital_tract COSM5941194 SP110 c.1037C>G p.S346W Substitution - Missense Skin COSM5985530 SRCAP c.395_396insC p.K134fs*17 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1027502 EYA2 c.196A>G p.M66V Substitution - Missense Endometrium COSM5999242 EPC1 c.1127G>A p.S376N Substitution - Missense Prostate COSM211705 TET2 c.375_375delC p.F125fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41644 TET2 c.1648C>T p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM730372 ZCWPW2 c.90G>T p.W30C Substitution - Missense Lung COSM1008162 BAZ2B c.1734G>A p.Q578Q Substitution - coding silent Endometrium COSM259611 BAZ2B c.2593C>T p.R865W Substitution - Missense Kidney COSM1756379 SMARCA1 c.837G>T p.M279I Substitution - Missense Urinary_tract COSM6007850 KMT2D c.336T>A p.S112R Substitution - Missense Prostate COSM331531 SND1 c.1026G>C p.Q342H Substitution - Missense Lung COSM4938529 AP001011.3_ENST00000320876 c.2727T>C p.P909P Substitution - coding silent Liver COSM2889277 ASXL1 c.2423C>A p.P808H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4933954 SND1 c.1969G>C p.V657L Substitution - Missense Liver COSM457977 ZMYM3 c.3908A>G p.Y1303C Substitution - Missense Prostate COSM1018640 HDAC4 c.765G>A p.R255R Substitution - coding silent Endometrium COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM1027967 ADNP c.2437C>T p.R813C Substitution - Missense Endometrium COSM4958514 SMARCA4 c.2676G>A p.K892K Substitution - coding silent Liver COSM41296 IDH2 c.? p.R172W Substitution - Missense Biliary_tract COSM5608144 CREBBP c.4971C>T p.S1657S Substitution - coding silent Skin COSM745631 HDAC9 c.918G>A p.M306I Substitution - Missense Skin COSM1080971 PHF3 c.5603T>C p.M1868T Substitution - Missense Endometrium COSM3236544 HCFC1 c.2692A>G p.T898A Substitution - Missense Lung COSM5599706 ING1 c.542C>T p.A181V Substitution - Missense Skin COSM2874670 NCOA2 c.225A>G p.E75E Substitution - coding silent Large_intestine COSM1635198 KMT2C c.2185A>G p.N729D Substitution - Missense Lung COSM422396 SMARCA2 c.3448C>T p.P1150S Substitution - Missense Urinary_tract COSM1018617 HDAC4 c.2613C>T p.F871F Substitution - coding silent Endometrium COSM944178 AICDA c.424A>G p.K142E Substitution - Missense Endometrium COSM4831960 PRDM9 c.1017C>T p.I339I Substitution - coding silent Cervix COSM4162008 KMT2C c.2578C>T p.P860S Substitution - Missense Thyroid COSM2848397 GABRG1 c.647T>C p.I216T Substitution - Missense Large_intestine COSM135879 ACTR5 c.1205C>T p.S402F Substitution - Missense Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Bone COSM4575459 KMT2D c.1797G>A p.L599L Substitution - coding silent Bone COSM5625313 SIRT5 c.373G>C p.E125Q Substitution - Missense Oesophagus COSM43417 TET2 c.2746C>T p.Q916* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3509551 CREBBP c.6311G>C p.R2104P Substitution - Missense Skin COSM4974533 PYGO1 c.1050G>A p.V350V Substitution - coding silent Oesophagus COSM1658780 KDM6A c.2833-1G>A p.? Unknown Salivary_gland COSM6001098 CHD8 c.6873G>T p.K2291N Substitution - Missense Prostate COSM920005 SFMBT2 c.2065G>A p.A689T Substitution - Missense Pancreas COSM3022258 ARID1B c.1772C>G p.P591R Substitution - Missense Large_intestine COSM41294 IDH1 c.? p.R132C Substitution - Missense Biliary_tract COSM41292 IDH1 c.? p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM110770 TET2 c.5594C>G p.A1865G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1287834 SETD8 c.1044G>A p.P348P Substitution - coding silent Central_nervous_system COSM21251 TAF1L c.5472C>A p.H1824Q Substitution - Missense Lung COSM146173 CHD2 c.4592+2T>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5497277 SMYD4 c.1572G>C p.Q524H Substitution - Missense Biliary_tract COSM88790 EP300 c.4408delA p.M1470fs*26 Deletion - Frameshift Stomach COSM6012320 TDRD6 c.4075A>T p.I1359L Substitution - Missense Skin COSM150428 KMT2C c.2958A>G p.P986P Substitution - coding silent Soft_tissue COSM4717888 PRMT6 c.78G>A p.T26T Substitution - coding silent Large_intestine COSM213951 RSF1 c.2908C>T p.R970C Substitution - Missense Breast COSM1687474 MEAF6 c.61G>A p.E21K Substitution - Missense Skin COSM1258842 NCOA5 c.904C>T p.R302W Substitution - Missense Stomach COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Stomach COSM359865 TBL1XR1 c.463G>C p.V155L Substitution - Missense Lung COSM893295 PRMT6 c.900C>A p.Y300* Substitution - Nonsense Endometrium COSM4752675 ZMYM6 c.412T>C p.C138R Substitution - Missense Stomach COSM3377557 MGA c.5849C>T p.T1950I Substitution - Missense Pancreas COSM1448357 TIF1 c.1015C>T p.R339C Substitution - Missense Large_intestine COSM285213 AP001011.3_ENST00000320876 c.840G>T p.E280D Substitution - Missense Large_intestine COSM384178 ARID1A c.1577C>T p.P526L Substitution - Missense Lung COSM3660882 PHF17 c.1622-3T>G p.? Unknown Liver COSM43414 TET2 c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3911518 NCOA3 c.2545C>T p.R849C Substitution - Missense Skin COSM1257804 MLL5 c.2888G>A p.R963H Substitution - Missense Biliary_tract COSM211724 TET2 c.3854_3856delTCT p.F1285del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM4064337 RAI1 c.1970C>T p.A657V Substitution - Missense Stomach COSM4443886 CREBBP c.5944C>T p.P1982S Substitution - Missense Large_intestine COSM1447860 SND1 c.645T>C p.D215D Substitution - coding silent Large_intestine COSM429984 EED c.752T>C p.I251T Substitution - Missense Breast COSM3774230 BAG6 c.1855T>C p.S619P Substitution - Missense Soft_tissue COSM295915 JARID2 c.1029G>A p.T343T Substitution - coding silent Large_intestine COSM3957394 GTF3C1 c.2231G>T p.G744V Substitution - Missense Lung COSM4793755 TRIM66 c.483G>A p.E161E Substitution - coding silent Liver COSM3703110 PHF14 c.1619G>T p.R540L Substitution - Missense Liver COSM459164 DMAP1 c.807G>C p.Q269H Substitution - Missense Cervix COSM4383748 TET2 c.220delG p.V74fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM318893 BAZ2A_ENST00000379441 c.1594G>A p.G532R Substitution - Missense Lung COSM357702 TTF2 c.1149C>T p.N383N Substitution - coding silent Lung COSM3259669 EZH2 c.872A>C p.K291T Substitution - Missense Large_intestine COSM211714 TET2 c.3686T>G p.L1229R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4752319 TAF1L c.4274A>G p.H1425R Substitution - Missense Stomach COSM5487143 KMT2D c.15419G>A p.G5140E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM100062 TET2 c.5704_5704delT p.Y1902fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4100477 ZGPAT c.709C>T p.R237C Substitution - Missense Stomach COSM1685364 SETBP1 c.2612T>C p.I871T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4728355 SMARCD2 c.916-2A>C p.? Unknown Large_intestine COSM110764 TET2 c.4853_4854insA p.Y1618fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3667715 MGA c.7093A>G p.I2365V Substitution - Missense Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4497057 ARID1A c.4895C>T p.P1632L Substitution - Missense Skin COSM4570373 MBD5 c.2671T>C p.F891L Substitution - Missense Skin COSM1295217 LMNA c.406G>A p.D136N Substitution - Missense Urinary_tract COSM3435689 MGMT c.479G>A p.G160E Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3458234 EP400 c.3142C>T p.P1048S Substitution - Missense Skin COSM4411952 KDM6A c.? p.L979fs*19 Unknown Urinary_tract COSM288679 MSH6 c.3964G>T p.E1322* Substitution - Nonsense Large_intestine COSM96391 ASXL1 c.2254_2255insG p.A752fs*22 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3742721 SMARCA4 c.2016G>A p.E672E Substitution - coding silent Liver COSM4568014 CBX4 c.970_971CC>TT p.P324L Substitution - Missense Skin COSM4831148 PHF17 c.2142G>T p.R714S Substitution - Missense Cervix COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM5752056 PHF6 c.295_296insA p.C99fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5698657 HCFC1 c.996A>G p.A332A Substitution - coding silent Soft_tissue COSM1613554 BAZ2B c.2444A>G p.Y815C Substitution - Missense Liver COSM69207 MGA c.5758_5759insA p.V1920fs*22 Insertion - Frameshift Ovary COSM314847 RNF17 c.597delT p.F201fs*23 Deletion - Frameshift Large_intestine COSM1186194 SETD5_ENST00000402198 c.505C>G p.P169A Substitution - Missense Lung COSM3832350 KMT2C c.5809C>T p.Q1937* Substitution - Nonsense Breast COSM22622 MEN1 c.620delG p.G208fs*16 Deletion - Frameshift Small_intestine COSM4542601 CHD1 c.3215G>A p.R1072K Substitution - Missense Skin COSM1709975 NCOR1 c.3349T>A p.S1117T Substitution - Missense Skin COSM3113557 SETD1A c.3236C>T p.P1079L Substitution - Missense Biliary_tract COSM87161 TET2 c.4138C>T p.H1380Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4169983 KMT2A c.2713T>A p.L905M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM51200 ASXL1 c.1888_1910del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1220377 PHF21B c.257C>T p.P86L Substitution - Missense Large_intestine COSM1211730 KDM3B c.3082C>T p.R1028W Substitution - Missense Large_intestine COSM1363353 MBD6 c.2862G>A p.R954R Substitution - coding silent Large_intestine COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3510034 BRD7 c.1709C>T p.P570L Substitution - Missense Skin COSM1214801 MECOM c.928G>A p.G310S Substitution - Missense Central_nervous_system COSM5708599 TBL1XR1 c.570C>G p.D190E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM232567 KDM6B c.3409C>A p.H1137N Substitution - Missense Skin COSM5634276 KMT2D c.14737delC p.V4914fs*59 Deletion - Frameshift Oesophagus COSM1406760 HDAC4 c.307C>T p.Q103* Substitution - Nonsense Large_intestine COSM1694082 WHSC1 c.3787T>C p.Y1263H Substitution - Missense Skin COSM6016923 SMCHD1 c.1673C>T p.P558L Substitution - Missense Skin COSM5611455 BAP1 c.956C>G p.S319* Substitution - Nonsense Pleura COSM3922827 JHDM1D c.1565C>T p.P522L Substitution - Missense Skin COSM5812929 CHD9 c.3486A>T p.R1162S Substitution - Missense Liver COSM4120740 BRPF1 c.2805G>C p.G935G Substitution - coding silent Prostate COSM3624661 BAG6 c.343C>T p.P115S Substitution - Missense Skin COSM150424 KMT2C c.5068A>C p.R1690R Substitution - coding silent Soft_tissue COSM1496151 CHD1 c.1056T>A p.Y352* Substitution - Nonsense Kidney COSM150424 KMT2C c.5068A>C p.R1690R Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3794540 CHD2 c.5154G>A p.R1718R Substitution - coding silent Urinary_tract COSM1716926 TET2 c.4748C>A p.S1583* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5043309 ATF7IP c.3777G>T p.Q1259H Substitution - Missense Liver COSM3369597 ACTA1 c.225C>T p.H75H Substitution - coding silent Thyroid COSM1315850 EZH2 c.305A>G p.N102S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM302654 KMT2D c.5544_5545insC p.A1849fs*36 Insertion - Frameshift Central_nervous_system COSM1965167 KAT6B c.4807G>A p.V1603I Substitution - Missense Stomach COSM4611131 INTS12 c.217delA p.I73fs*20 Deletion - Frameshift Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3719552 ASXL1 c.2422delC p.P808fs*10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3755968 KDM6B c.1444C>T p.P482S Substitution - Missense Large_intestine COSM1582858 MSL3 c.466-1G>C p.? Unknown Meninges COSM4169957 DNMT3A c.923G>A p.G308D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4475862 KMT2D c.2012+8C>T p.? Unknown Skin COSM1213493 LMNB2 c.412C>T p.R138W Substitution - Missense Large_intestine COSM1328032 BRPF1 c.2737A>C p.R913R Substitution - coding silent Ovary COSM4401484 TAF1L c.5244G>A p.E1748E Substitution - coding silent Skin COSM22858 KDM5D c.469T>A p.Y157N Substitution - Missense Skin COSM1237322 MEN1 c.559_568del10 p.P188fs*33 Deletion - Frameshift Parathyroid COSM4002747 PBRM1 c.3597A>T p.P1199P Substitution - coding silent Soft_tissue COSM5722287 INOC1 c.2013C>T p.F671F Substitution - coding silent Skin COSM5708596 TBL1XR1 c.793C>G p.H265D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3656497 SMARCA2 c.1942G>A p.E648K Substitution - Missense Skin COSM3896548 ATAD2 c.4024A>T p.K1342* Substitution - Nonsense Stomach COSM1018610 ATAD2B_ENST00000238789 c.3352A>C p.N1118H Substitution - Missense Endometrium COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5443950 PHRF1 c.2741C>G p.S914C Substitution - Missense Oesophagus COSM451195 TCF19 c.151_152insA p.G51fs*17 Insertion - Frameshift Breast COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4713942 PHF15 c.1657A>G p.N553D Substitution - Missense Large_intestine COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM5020729 DOT1L c.2560G>A p.A854T Substitution - Missense Soft_tissue COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM1718743 EP400 c.1296G>A p.E432E Substitution - coding silent Skin COSM1643848 KDM4C c.681_682insT p.S231fs*7 Insertion - Frameshift Stomach COSM4719630 PYGO2 c.641G>A p.R214Q Substitution - Missense Large_intestine COSM4385071 ASXL1 c.1488C>G p.N496K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4786971 BRD3 c.543C>T p.T181T Substitution - coding silent Large_intestine COSM4043672 BAZ2A_ENST00000379441 c.3808C>A p.L1270M Substitution - Missense Stomach COSM1017664 SP100 c.2613G>T p.E871D Substitution - Missense Endometrium COSM217037 ARID1A c.3843T>G p.Y1281* Substitution - Nonsense Liver COSM2252223 UBR7 c.292C>T p.R98C Substitution - Missense Skin COSM4361006 KMT2C c.6160C>T p.Q2054* Substitution - Nonsense Upper_aerodigestive_tract COSM4487836 ARID2 c.3238C>T p.P1080S Substitution - Missense Skin COSM4656462 MYST3 c.4869C>T p.S1623S Substitution - coding silent Large_intestine COSM230965 SP140 c.191T>G p.L64R Substitution - Missense Skin COSM4385254 EP300 c.3659C>G p.S1220C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5190347 MBD1 c.1006C>T p.R336C Substitution - Missense Large_intestine COSM1379105 PRMT7 c.1246G>A p.V416M Substitution - Missense Small_intestine COSM133029 ARID1A c.3977_3977delC p.P1326fs*155 Deletion - Frameshift Prostate COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Soft_tissue COSM343755 BAZ1B c.2116G>A p.E706K Substitution - Missense Lung COSM3930752 PRDM16 c.3146G>C p.G1049A Substitution - Missense Urinary_tract COSM1411823 CHD6 c.8059G>A p.E2687K Substitution - Missense Large_intestine COSM3940665 SETD5_ENST00000402198 c.2406G>C p.E802D Substitution - Missense Oesophagus COSM52781 PBRM1 c.3892C>T p.Q1298* Substitution - Nonsense Kidney COSM4767619 KMT2D c.15574G>C p.D5192H Substitution - Missense Cervix COSM4603245 PCGF6 c.84_85insGCCTCC p.P28_V29insAS Insertion - In frame Upper_aerodigestive_tract COSM1735370 PCGF1 c.82G>C p.D28H Substitution - Missense Pancreas COSM3865334 PRDM16 c.1641C>T p.L547L Substitution - coding silent Skin COSM244642 GABRG1 c.730C>T p.R244W Substitution - Missense Stomach COSM5893568 MTA2 c.491-6C>T p.? Unknown Skin COSM37029 EZH2 c.1937A>C p.Y646S Substitution - Missense Skin COSM3742094 NCOR1 c.4393G>T p.E1465* Substitution - Nonsense Liver COSM4061225 FTO c.559G>C p.G187R Substitution - Missense Stomach COSM1427322 SMARCA5 c.2390G>T p.G797V Substitution - Missense Large_intestine COSM3380600 SETD2 c.3362C>T p.S1121F Substitution - Missense Pancreas COSM13394 MSH6 c.3261_3262insC p.F1088fs*5 Insertion - Frameshift Stomach COSM4960324 LMNB1 c.1021G>A p.D341N Substitution - Missense Liver COSM5480081 KMT2A c.5443G>A p.E1815K Substitution - Missense Large_intestine COSM13394 MSH6 c.3261_3262insC p.F1088fs*5 Insertion - Frameshift Large_intestine COSM1439941 HDAC2 c.1375delA p.T459fs*>30 Deletion - Frameshift Large_intestine COSM2152842 BRD9 c.1311C>G p.D437E Substitution - Missense Central_nervous_system COSM939527 ARID2 c.5417A>T p.E1806V Substitution - Missense Endometrium COSM5708588 TBL1XR1 c.869C>G p.T290R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3802029 TDRD10 c.564C>G p.L188L Substitution - coding silent Breast COSM3656840 TAF1L c.3843G>A p.L1281L Substitution - coding silent Liver COSM4725198 SETDB1 c.1369C>T p.P457S Substitution - Missense Large_intestine COSM895002 PRDM2 c.348G>A p.L116L Substitution - coding silent Endometrium COSM318104 TET2 c.1578G>T p.Q526H Substitution - Missense Lung COSM484154 TDRD6 c.1774C>G p.Q592E Substitution - Missense Kidney COSM13394 MSH6 c.3261_3262insC p.F1088fs*5 Insertion - Frameshift Stomach COSM4149942 DHX30 c.1371G>A p.G457G Substitution - coding silent Ovary COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3644826 ATAD2 c.3044C>G p.P1015R Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5893190 TDRD6 c.5575T>C p.S1859P Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM228110 KMT2C c.1042G>A p.D348N Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4590472 SIRT7 c.670A>C p.T224P Substitution - Missense Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1372832 MGA c.6597G>A p.Q2199Q Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4059662 GTF3C1 c.931C>T p.Q311* Substitution - Nonsense Stomach COSM3662137 L3MBTL3 c.2028T>G p.F676L Substitution - Missense Liver COSM3296316 EPC2 c.2223A>T p.P741P Substitution - coding silent Pancreas COSM3396429 ATRX c.1438A>G p.T480A Substitution - Missense Prostate COSM5949898 DPF2 c.637+3G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4603312 EP400 c.8184_8185insCAG p.Q2748_T2749insQ Insertion - In frame Upper_aerodigestive_tract COSM302137 EP400 c.8181A>G p.Q2727Q Substitution - coding silent Stomach COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM3377299 RERE c.2524G>A p.A842T Substitution - Missense Pancreas COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM211747 TET2 c.5283_5284delCA p.I1762fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM942086 MBD6 c.1489G>A p.E497K Substitution - Missense Breast COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM4595565 CHD2 c.2168C>T p.A723V Substitution - Missense Upper_aerodigestive_tract COSM4991279 DOT1L c.396C>T p.S132S Substitution - coding silent Skin COSM1085176 SND1 c.140G>A p.R47Q Substitution - Missense Endometrium COSM3467908 RNF17 c.1455C>T p.I485I Substitution - coding silent Skin COSM1675425 BTAF1 c.4379A>C p.Q1460P Substitution - Missense Large_intestine COSM1241617 PRDM9 c.2209A>G p.R737G Substitution - Missense Oesophagus COSM4100209 DIDO1 c.878A>G p.H293R Substitution - Missense Stomach COSM162518 KMT2C c.5494A>T p.K1832* Substitution - Nonsense Breast COSM3022375 ARID1B c.4263G>A p.Q1421Q Substitution - coding silent Large_intestine COSM384807 GABRG1 c.569T>A p.L190H Substitution - Missense Lung COSM5035001 KDM3A c.2985C>T p.F995F Substitution - coding silent Oesophagus COSM3763857 SMARCA2 c.3672G>A p.E1224E Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1225667 SHPRH c.3252G>T p.L1084F Substitution - Missense Large_intestine COSM161458 HCFC1 c.3745G>C p.E1249Q Substitution - Missense Breast COSM3723035 PHF2 c.2955T>C p.S985S Substitution - coding silent Thyroid COSM4852652 MPHOSPH8 c.1567G>A p.E523K Substitution - Missense Cervix COSM5713505 KMT2D c.7476delG p.P2493fs*24 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2889294 ASXL1 c.3084G>A p.S1028S Substitution - coding silent Large_intestine COSM3970690 SMARCA4 c.3058G>T p.D1020Y Substitution - Missense Central_nervous_system COSM43511 TET2 c.4679_4680insA p.Y1560fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5470114 ING1 c.446G>A p.R149H Substitution - Missense Large_intestine COSM4694044 KAT2B c.306C>T p.A102A Substitution - coding silent Large_intestine COSM132968 ASXL1 c.? p.E635fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM4449049 MYST2 c.163+3delA p.? Unknown Skin COSM5778789 STK31 c.1965+3A>C p.? Unknown Breast COSM30356 SETD2 c.3152T>G p.V1051G Substitution - Missense Kidney COSM3419121 HDAC1 c.92A>C p.K31T Substitution - Missense Large_intestine COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Biliary_tract COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM32699 EHMT1 c.35C>T p.A12V Substitution - Missense Breast COSM37030 EZH2 c.1936T>C p.Y646H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM36205 ASXL1 c.3306G>T p.E1102D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM83866 CHD5 c.5622C>T p.D1874D Substitution - coding silent Pancreas COSM83884 ARID1A c.3826C>T p.R1276* Substitution - Nonsense Stomach COSM51490 ARID1A c.3660_3684del25 p.M1220fs*9 Deletion - Frameshift Ovary COSM77304 ATAD2 c.3823T>A p.S1275T Substitution - Missense Ovary COSM221487 KAT5 c.1330C>T p.L444F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM158621 NCOA7 c.1750A>G p.K584E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM149376 SETD2 c.4376C>T p.P1459L Substitution - Missense Soft_tissue COSM164202 SCML2 c.330C>T p.V110V Substitution - coding silent Breast COSM212536 SMYD4 c.1891G>A p.D631N Substitution - Missense Breast COSM235738 EP300 c.3442_3447delGTCTTT p.V1148_F1149delVF Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM263787 SMCHD1 c.3946C>T p.R1316* Substitution - Nonsense Large_intestine COSM282704 MBTD1 c.81C>T p.V27V Substitution - coding silent Large_intestine COSM276046 MECOM c.358C>T p.R120C Substitution - Missense Large_intestine COSM342565 JHDM1D c.927A>G p.E309E Substitution - coding silent Lung COSM375013 BAHCC1 c.2602C>T p.Q868* Substitution - Nonsense Lung COSM398772 ZGPAT c.1512G>T p.Q504H Substitution - Missense Lung COSM394948 HNF1A c.857A>T p.Y286F Substitution - Missense Lung COSM437706 CBX2 c.1242G>A p.L414L Substitution - coding silent Pancreas COSM471712 CREBBP c.878T>C p.V293A Substitution - Missense Kidney COSM471791 BRD7 c.19A>G p.K7E Substitution - Missense Kidney COSM589516 BRD8 c.3488G>A p.R1163H Substitution - Missense Upper_aerodigestive_tract COSM965437 MORF4L1 c.802T>C p.L268L Substitution - coding silent Endometrium COSM693915 ARID2 c.78C>G p.F26L Substitution - Missense Lung COSM1049764 TET2 c.4767T>C p.Y1589Y Substitution - coding silent Endometrium COSM1023490 KDM3A c.561C>A p.D187E Substitution - Missense Upper_aerodigestive_tract COSM1026053 NCOA6 c.5822C>T p.A1941V Substitution - Missense Endometrium COSM920706 TAF3 c.2179_2180insAG p.R730fs*17 Insertion - Frameshift Endometrium COSM742764 TDRD6 c.3339G>T p.V1113V Substitution - coding silent Lung COSM741031 KDM1B c.1203G>T p.Q401H Substitution - Missense Lung COSM926915 ALKBH3 c.12A>C p.K4N Substitution - Missense Endometrium COSM946208 RNF17 c.1815G>T p.K605N Substitution - Missense Endometrium COSM1034989 PHF21B c.574C>T p.R192C Substitution - Missense Endometrium COSM969217 JMJD5 c.1247C>T p.S416L Substitution - Missense Endometrium COSM1109483 KIAA2026_ENST00000399933 c.615G>A p.T205T Substitution - coding silent Large_intestine COSM1109533 UHRF2 c.2036A>C p.K679T Substitution - Missense Endometrium COSM1121689 PHF16 c.223G>A p.E75K Substitution - Missense Endometrium COSM1123023 SMC1A c.3592G>A p.E1198K Substitution - Missense Pituitary COSM1194726 NCOA7 c.1837A>T p.T613S Substitution - Missense Lung COSM1262030 PHC2 c.1566G>C p.Q522H Substitution - Missense Oesophagus COSM1221870 PRDM11 c.9G>T p.K3N Substitution - Missense Large_intestine COSM1226755 SMARCA4 c.3436G>A p.G1146S Substitution - Missense Large_intestine COSM1188329 SUV420H1 c.268G>A p.D90N Substitution - Missense Lung COSM1189696 CXXC1 c.1225C>T p.P409S Substitution - Missense Lung COSM1385955 PHF23 c.815T>C p.V272A Substitution - Missense Large_intestine COSM1427015 PHF17 c.1175delC p.R394fs*20 Deletion - Frameshift Large_intestine COSM1367548 TDRD3 c.1617G>A p.K539K Substitution - coding silent Large_intestine COSM1512055 KMT2D c.11782C>T p.R3928* Substitution - Nonsense Liver COSM1583102 DNMT3A c.2114T>C p.I705T Substitution - Missense Thyroid COSM1687290 EYA3 c.1507C>T p.P503S Substitution - Missense Skin COSM1702242 EPC1 c.1537G>A p.D513N Substitution - Missense Skin COSM1703078 TDRD1 c.3481C>T p.L1161F Substitution - Missense Skin COSM1664524 TET2 c.2743G>C p.A915P Substitution - Missense Kidney COSM1739931 KMT2D c.14863C>T p.R4955C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2027701 MTA1 c.1517C>T p.A506V Substitution - Missense Small_intestine COSM2036847 PHRF1 c.2064C>T p.D688D Substitution - coding silent Stomach COSM2155980 MECP2 c.1410C>A p.N470K Substitution - Missense Central_nervous_system COSM2158451 JMJD1C c.3924T>C p.I1308I Substitution - coding silent Large_intestine COSM2687797 NIPBL c.1693A>G p.K565E Substitution - Missense Upper_aerodigestive_tract COSM2261793 YY1 c.422G>A p.G141D Substitution - Missense Large_intestine COSM2828880 SETD5_ENST00000402198 c.3945delG p.T1317fs*53 Deletion - Frameshift Large_intestine COSM2859867 TRIM24 c.1535C>T p.P512L Substitution - Missense Large_intestine COSM2932744 ZGPAT c.1196delG p.G400fs*31 Deletion - Frameshift Large_intestine COSM3113029 SRCAP c.8303G>A p.R2768Q Substitution - Missense Skin COSM3113058 SRCAP c.9413G>A p.R3138H Substitution - Missense Stomach COSM3262493 KMT2C c.12194C>T p.A4065V Substitution - Missense Bone COSM3304725 KMT2C c.427delA p.S143fs*3 Deletion - Frameshift Prostate COSM3363194 NCOA6 c.2460T>C p.D820D Substitution - coding silent Kidney COSM3410720 JARID2 c.3687C>T p.P1229P Substitution - coding silent Central_nervous_system COSM3505545 CHD2 c.4056G>T p.V1352V Substitution - coding silent Skin COSM3428089 PRDM5 c.1280A>C p.N427T Substitution - Missense Large_intestine COSM3424965 ATRX c.1331G>A p.R444Q Substitution - Missense Large_intestine COSM3620810 EYA4 c.994C>T p.P332S Substitution - Missense Skin COSM3620824 EYA4 c.1421G>A p.G474E Substitution - Missense Skin COSM3578875 SP140 c.203G>A p.R68Q Substitution - Missense Skin COSM3548770 DIDO1 c.6020C>T p.S2007L Substitution - Missense Prostate COSM3524745 SMCHD1 c.824C>T p.S275L Substitution - Missense Skin COSM3644829 ATAD2 c.2494G>T p.G832* Substitution - Nonsense Skin COSM3670405 EHMT1 c.1213C>G p.P405A Substitution - Missense Central_nervous_system COSM3705785 PRDM16 c.2154G>T p.S718S Substitution - coding silent Liver COSM3719038 EZH1 c.473T>A p.V158D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3746178 ARID1A c.2879-2A>G p.? Unknown Liver COSM3752792 TRIM66 c.1397A>G p.H466R Substitution - Missense Upper_aerodigestive_tract COSM3755299 SMYD4 c.392G>T p.R131I Substitution - Missense Liver COSM3817817 SRCAP c.2809C>T p.P937S Substitution - Missense Breast COSM3940130 BRWD3 c.43C>T p.L15L Substitution - coding silent Oesophagus COSM4042332 KMT2D c.14733G>T p.G4911G Substitution - coding silent Stomach COSM3994600 EYA4 c.1897G>T p.A633S Substitution - Missense Kidney COSM4098435 CHD6 c.7691T>C p.V2564A Substitution - Missense Stomach COSM4093137 ING5 c.663G>A p.T221T Substitution - coding silent Stomach COSM4104444 EP300 c.7102G>A p.D2368N Substitution - Missense Stomach COSM4115542 FXR1 c.1364G>A p.R455H Substitution - Missense Large_intestine COSM4070657 BAHCC1 c.6405C>T p.R2135R Substitution - coding silent Stomach COSM4158078 SETD2 c.384T>A p.D128E Substitution - Missense Thyroid COSM4187111 RNF17 c.782A>T p.Q261L Substitution - Missense Kidney COSM4383974 TET2 c.5704T>C p.Y1902H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384251 EZH2 c.2009T>C p.F670S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4597825 KMT2D c.11395C>T p.L3799F Substitution - Missense Upper_aerodigestive_tract COSM4606015 KMT2C c.8566G>T p.A2856S Substitution - Missense Upper_aerodigestive_tract COSM4433315 PRDM1 c.778C>T p.R260W Substitution - Missense Oesophagus COSM4498896 SMARCA4 c.52C>T p.P18S Substitution - Missense Skin COSM4529186 KMT2D c.15126G>A p.E5042E Substitution - coding silent Skin COSM4431598 KMT2D c.15301G>A p.E5101K Substitution - Missense Oesophagus COSM4487199 ATF7IP c.3153C>T p.L1051L Substitution - coding silent Skin COSM4429414 ZBTB4 c.2352G>C p.G784G Substitution - coding silent Oesophagus COSM4550826 SETD5_ENST00000402198 c.510G>A p.K170K Substitution - coding silent Skin COSM4526464 PRDM9 c.1398G>A p.R466R Substitution - coding silent Liver COSM4590278 KDM2A c.310A>G p.S104G Substitution - Missense Upper_aerodigestive_tract COSM4411278 PRDM13 c.211A>T p.I71F Substitution - Missense Biliary_tract COSM4717878 PRMT3 c.519A>T p.E173D Substitution - Missense Large_intestine COSM4695054 KDM6B c.1624_1625insC p.P544fs*11 Insertion - Frameshift Large_intestine COSM4765036 CHD3 c.1612_1613insC p.R540fs*47 Insertion - Frameshift Stomach COSM4725180 SETD8 c.1020C>T p.S340S Substitution - coding silent Large_intestine COSM4701979 MGA c.6283delA p.K2095fs*56 Deletion - Frameshift Large_intestine COSM4714049 PHIP c.1687C>T p.R563W Substitution - Missense Large_intestine COSM4669628 CCDC101 c.700G>A p.V234M Substitution - Missense Large_intestine COSM4614305 CHD2 c.3725_3726delAA p.K1245fs*13 Deletion - Frameshift Large_intestine COSM4639322 TRIM33 c.982G>T p.A328S Substitution - Missense Large_intestine COSM4771406 DAXX c.1442A>C p.D481A Substitution - Missense Breast COSM4608019 PRDM14 c.823G>T p.A275S Substitution - Missense Adrenal_gland COSM4611878 PHF2 c.1467_1468insA p.T493fs*21 Insertion - Frameshift Large_intestine COSM4776268 NIPBL c.2536T>C p.L846L Substitution - coding silent Soft_tissue COSM4790984 ACTR8 c.461A>G p.N154S Substitution - Missense Liver COSM4778182 EED c.223T>C p.S75P Substitution - Missense Prostate COSM4788254 ZMYM4 c.259A>G p.S87G Substitution - Missense Liver COSM4794635 WHSC1 c.515G>A p.S172N Substitution - Missense Liver COSM4792938 BAZ1B c.24G>T p.K8N Substitution - Missense Liver COSM4959104 BTAF1 c.2027G>A p.R676Q Substitution - Missense Liver COSM4991723 DNMT3A c.1152C>T p.F384F Substitution - coding silent Skin COSM5019758 ERCC6 c.2048G>A p.R683Q Substitution - Missense Soft_tissue COSM5015598 GATAD2A c.895A>G p.M299V Substitution - Missense Kidney COSM5007763 L3MBTL3 c.1249G>T p.E417* Substitution - Nonsense Large_intestine COSM5056621 SIRT2 c.384G>A p.P128P Substitution - coding silent Stomach COSM5057489 DIDO1 c.4257C>T p.A1419A Substitution - coding silent Stomach COSM5343046 CBX2 c.406G>A p.G136S Substitution - Missense Large_intestine COSM5366098 NCOA3 c.2427T>C p.S809S Substitution - coding silent Large_intestine COSM5392041 ACTR5 c.1476C>T p.F492F Substitution - coding silent Skin COSM5404100 PRDM1 c.205G>A p.E69K Substitution - Missense Skin COSM5400261 TET2 c.5025C>T p.I1675I Substitution - coding silent Skin COSM5396693 NCOA1 c.3556C>T p.P1186S Substitution - Missense Skin COSM5366297 PRDM15 c.1297A>G p.T433A Substitution - Missense Large_intestine COSM5508091 ATAD2 c.1970A>G p.Q657R Substitution - Missense Biliary_tract COSM5513426 DOT1L c.3238G>T p.G1080W Substitution - Missense Biliary_tract COSM5462261 CHD4 c.4787A>G p.Q1596R Substitution - Missense Large_intestine COSM5574492 CHD6 c.409_410insCCG p.K137>TE Complex - insertion inframe Haematopoietic_and_lymphoid_tissue COSM5574756 MLL5 c.2386C>A p.P796T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5626012 PRDM16 c.1389G>C p.L463F Substitution - Missense Oesophagus COSM5730360 CHD4 c.2812G>A p.A938T Substitution - Missense Breast COSM5739356 SUV420H1 c.376A>G p.R126G Substitution - Missense Small_intestine COSM5724482 HCFC1 c.5666G>A p.R1889H Substitution - Missense Skin COSM5617994 HCFC2 c.1177G>C p.D393H Substitution - Missense Breast COSM5608371 EP300 c.5563C>T p.P1855S Substitution - Missense Skin COSM5683975 PHF13 c.398A>G p.E133G Substitution - Missense Soft_tissue COSM5702528 BAP1 c.1184C>A p.S395* Substitution - Nonsense Eye COSM5564377 SETD5_ENST00000402198 c.368G>A p.R123Q Substitution - Missense Prostate COSM5763003 NCOA1 c.1876T>C p.Y626H Substitution - Missense Pancreas COSM5772194 SMC1A c.2359C>T p.R787C Substitution - Missense Breast COSM5788312 CHD8 c.3381C>G p.A1127A Substitution - coding silent Breast COSM5826234 ACTR8 c.779-3delC p.? Unknown Prostate COSM5834463 MSH6 c.2660delT p.K888fs*18 Deletion - Frameshift Breast COSM5882713 CREBBP c.3670_3691del22 p.D1224fs*19 Deletion - Frameshift Large_intestine COSM5882020 KMT2A c.5758A>T p.N1920Y Substitution - Missense Large_intestine COSM5895168 CHD3 c.709_710insC p.G238fs*12 Insertion - Frameshift Skin COSM5924571 CHD4 c.4450C>T p.R1484* Substitution - Nonsense Skin COSM5929043 EYA1 c.640-1G>A p.? Unknown Skin COSM5971102 CHD8 c.1030G>C p.V344L Substitution - Missense Upper_aerodigestive_tract COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM166348 DNMT3A c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM166348 DNMT3A c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716177 EZH2 c.? p.Y646H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3555053 TCF20 c.2921C>T p.S974F Substitution - Missense Skin COSM21481 HNF1A c.872_873insC p.G292fs*25 Insertion - Frameshift Large_intestine COSM3624657 BAG6 c.1218C>T p.S406S Substitution - coding silent Large_intestine COSM22381 TIF1 c.2769C>T p.S923S Substitution - coding silent Breast COSM4506476 SRCAP c.7219C>T p.Q2407* Substitution - Nonsense Skin COSM5718770 ASXL3 c.1090G>A p.E364K Substitution - Missense Skin COSM4806315 SUV420H1 c.2174A>G p.D725G Substitution - Missense Liver COSM23305 HDAC2 c.1225C>T p.R409* Substitution - Nonsense Skin COSM929409 PHRF1 c.4351G>A p.E1451K Substitution - Missense Endometrium COSM3547353 ZMYND8 c.1996G>A p.E666K Substitution - Missense Skin COSM1238499 CHD6 c.4554C>T p.G1518G Substitution - coding silent Oesophagus COSM5667888 ATRX c.2015C>G p.P672R Substitution - Missense Soft_tissue COSM4384686 KMT2D c.15795G>A p.W5265* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5572880 ZCWPW2 c.278A>T p.Y93F Substitution - Missense Prostate COSM1319467 SCML2 c.1764C>T p.D588D Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1204459 DOT1L c.1031G>A p.R344H Substitution - Missense Large_intestine COSM3379546 FMR1 c.569G>A p.R190Q Substitution - Missense Pancreas COSM43501 TET2 c.4898_4899insG p.C1633fs*28 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1296119 SMYD3 c.798C>G p.I266M Substitution - Missense Urinary_tract COSM4635824 ATRX c.7420C>T p.R2474C Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Biliary_tract COSM234400 APOBEC1 c.582G>A p.K194K Substitution - coding silent Skin COSM5648964 PBRM1 c.1028C>G p.S343* Substitution - Nonsense Oesophagus COSM5045248 EP300 c.3549C>A p.C1183* Substitution - Nonsense Oesophagus COSM3986967 KMT2D c.8341G>C p.A2781P Substitution - Missense Kidney COSM5708610 TBL1XR1 c.21G>T p.E7D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5945648 DNMT3A c.1643T>C p.M548T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5067886 CHD7 c.8955_8956insG p.D2988fs*2 Insertion - Frameshift Breast COSM5568241 SP140_ENST00000392045 c.1178C>T p.S393L Substitution - Missense Prostate COSM1088652 STK31 c.2182C>T p.R728* Substitution - Nonsense Endometrium COSM934229 HCFC2 c.1878G>A p.K626K Substitution - coding silent Endometrium COSM5061285 CHD1 c.1177C>T p.R393C Substitution - Missense Stomach COSM1057 SMARCB1 c.1148delC p.P383fs*>3 Deletion - Frameshift Central_nervous_system COSM255258 KMT2D c.12552_12553ins14 p.R4185fs*69 Insertion - Frameshift Central_nervous_system COSM144626 PHF6 c.955C>T p.R319* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM4611727 ARID4A c.2329_2330insA p.T779fs*5 Insertion - Frameshift Large_intestine COSM354965 HELLS c.792G>T p.L264F Substitution - Missense Lung COSM1055648 GABRG1 c.334G>T p.D112Y Substitution - Missense Endometrium COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5792598 SMEK2 c.1233+10A>G p.? Unknown Breast COSM1482079 BAZ2B c.470C>T p.S157L Substitution - Missense Breast COSM140758 GTF3C1 c.5323G>T p.G1775W Substitution - Missense Skin COSM4448593 TDG c.1090+1G>T p.? Unknown Skin COSM4775972 NIPBL c.2389C>T p.R797* Substitution - Nonsense Biliary_tract COSM1618136 SETD5_ENST00000402198 c.3094G>A p.G1032S Substitution - Missense Liver COSM4117999 SETD2 c.4885C>T p.R1629W Substitution - Missense Stomach COSM1371932 SETD3 c.1120G>T p.E374* Substitution - Nonsense Large_intestine COSM2834933 CHD9 c.7282A>G p.I2428V Substitution - Missense Large_intestine COSM5952773 SRCAP c.1043C>T p.S348F Substitution - Missense Oesophagus COSM85916 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1698420 STK31 c.730G>A p.G244R Substitution - Missense Skin COSM3237324 KDM3B c.2994_3001delCTGCCAGC p.C999fs*4 Deletion - Frameshift Large_intestine COSM1750634 SMARCA4 c.499C>G p.R167G Substitution - Missense Urinary_tract COSM3699894 EPC1 c.536T>G p.I179S Substitution - Missense Ovary COSM5626801 ZMYND8 c.3420C>T p.P1140P Substitution - coding silent Oesophagus COSM211757 TET2 c.2586_2587insG p.H863fs*9 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3666472 MTA2 c.1016+5G>A p.? Unknown Liver COSM5967281 SMARCD1 c.? p.? Unknown Salivary_gland COSM1032628 SMARCB1 c.1029G>A p.T343T Substitution - coding silent Endometrium COSM1108527 KIAA1045 c.22C>T p.R8W Substitution - Missense Endometrium COSM4146785 SETD8 c.362A>G p.K121R Substitution - Missense Bone COSM5363732 CREBBP c.4504T>C p.W1502R Substitution - Missense Large_intestine COSM1158215 NCOA3 c.981T>C p.H327H Substitution - coding silent Pancreas COSM1091567 BAZ1B c.1632A>C p.K544N Substitution - Missense Endometrium COSM5608372 EP300 c.2011C>T p.P671S Substitution - Missense Skin COSM4978303 BRD4 c.1396G>T p.V466L Substitution - Missense Oesophagus COSM364004 PRDM9 c.967C>A p.R323R Substitution - coding silent Upper_aerodigestive_tract COSM43412 TET2 c.?_?del? p.?fs Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4128897 CCDC101 c.846A>G p.R282R Substitution - coding silent Bone COSM1027977 ADNP c.673C>T p.R225* Substitution - Nonsense Endometrium COSM3718056 SMARCA4 c.2521A>C p.R841R Substitution - coding silent Liver COSM1414225 PRDM15 c.1261C>T p.R421* Substitution - Nonsense Large_intestine COSM4949522 CHD7 c.4353G>C p.G1451G Substitution - coding silent Liver COSM1666862 ARID1A c.? p.? Unknown Endometrium COSM5108260 ACTL6B c.695_696insC p.N233fs*17 Insertion - Frameshift Breast COSM1714197 SMARCB1 c.65A>G p.D22G Substitution - Missense Skin COSM5454158 CHD4 c.4910-4C>A p.? Unknown Large_intestine COSM1472586 SETDB1 c.2288C>T p.S763F Substitution - Missense Breast COSM4015934 KAT6B c.5869C>T p.R1957W Substitution - Missense Large_intestine COSM5669231 CHD7 c.859C>A p.P287T Substitution - Missense Soft_tissue COSM423300 PBRM1 c.1999_2000insTA p.E667fs*4 Insertion - Frameshift Kidney COSM3414025 SMARCA4 c.3493C>T p.L1165F Substitution - Missense Oesophagus COSM1472587 SETDB1 c.2343_2344insA p.N782fs*7 Insertion - Frameshift Breast COSM4717900 PRMT8 c.532A>G p.K178E Substitution - Missense Large_intestine COSM5945702 ATRX c.? p.S1387* Substitution - Nonsense Central_nervous_system COSM391268 ARID1A c.2836delC p.P947fs*21 Deletion - Frameshift Lung COSM1121596 KDM6A c.2911C>T p.R971C Substitution - Missense Endometrium COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Bone COSM1168896 MBD5 c.1446T>A p.T482T Substitution - coding silent Pancreas COSM5591867 KMT2D c.12951G>A p.G4317G Substitution - coding silent Skin COSM2879335 CXXC1 c.432G>A p.P144P Substitution - coding silent Large_intestine COSM5967520 MSH6 c.? p.R316M Substitution - Missense Endometrium COSM5728313 RAI1 c.365G>A p.G122E Substitution - Missense Skin COSM4771409 PBRM1 c.1819-1G>A p.? Unknown Kidney COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1103 SMARCB1 c.?_?del? p.?del Deletion - In frame Central_nervous_system COSM1476243 HNF1A c.863_864insC p.P289fs*28 Insertion - Frameshift Breast COSM971411 CHD9 c.1164G>T p.E388D Substitution - Missense Endometrium COSM3763347 MYST3 c.4455C>T p.S1485S Substitution - coding silent Soft_tissue COSM4666110 BRD4 c.589C>T p.P197S Substitution - Missense Large_intestine COSM5609402 KMT2A c.8570C>T p.T2857I Substitution - Missense Skin COSM2105341 KMT2A c.1137delA p.K381fs*19 Deletion - Frameshift Biliary_tract COSM3883784 TRRAP c.11388C>T p.L3796L Substitution - coding silent Liver COSM4754291 NCOA3 c.667A>T p.T223S Substitution - Missense Stomach COSM5964929 HAT1 c.113T>C p.V38A Substitution - Missense Breast COSM261997 MGA c.8096G>A p.R2699Q Substitution - Missense Large_intestine COSM2965447 KDM6A c.3519_3520insT p.W1174fs*6 Insertion - Frameshift Large_intestine COSM1930657 SMYD2 c.131C>A p.T44K Substitution - Missense Large_intestine COSM3664211 WDR5 c.4G>C p.A2P Substitution - Missense Liver COSM1360186 EP400 c.8178A>G p.Q2726Q Substitution - coding silent Large_intestine COSM3637065 HDAC9 c.2074G>A p.E692K Substitution - Missense Skin COSM5623773 RAG2 c.30T>C p.N10N Substitution - coding silent Oesophagus COSM306878 KDM6A c.4134_4138CAAAA>CAAAAA p.Y1378fs Complex Central_nervous_system COSM79811 EYA2 c.810G>C p.V270V Substitution - coding silent Ovary COSM5620059 PHF1 c.1005G>T p.M335I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1406112 SP140_ENST00000392045 c.1460C>A p.A487E Substitution - Missense Large_intestine COSM423030 BAP1 c.193delT p.L65fs*7 Deletion - Frameshift Kidney COSM1449404 KMT2C c.10384T>G p.F3462V Substitution - Missense Large_intestine COSM1751638 BRWD1 c.4487T>G p.I1496S Substitution - Missense Urinary_tract COSM755631 ZBTB33 c.691C>A p.P231T Substitution - Missense Lung COSM1625045 KDM4C c.286G>T p.V96L Substitution - Missense Liver COSM3937089 CHD9 c.199G>A p.D67N Substitution - Missense Oesophagus COSM920103 SFMBT2 c.508G>A p.A170T Substitution - Missense Endometrium COSM73731 ARID4B c.3305A>G p.N1102S Substitution - Missense Ovary COSM5800238 DIDO1 c.5148A>C p.A1716A Substitution - coding silent Breast COSM3800393 SMARCA1 c.2752C>G p.Q918E Substitution - Missense Urinary_tract COSM4579030 CREBBP c.6763C>T p.P2255S Substitution - Missense Bone COSM1262935 PRDM1 c.869G>T p.R290L Substitution - Missense Oesophagus COSM380357 SETD8 c.609G>A p.R203R Substitution - coding silent Lung COSM1245995 BAZ2A_ENST00000379441 c.1331C>T p.A444V Substitution - Missense Oesophagus COSM4170046 TET2 c.4490C>G p.S1497* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4170086 EP300 c.6626_6637del12 p.N2209_Q2213>K Complex - deletion inframe Haematopoietic_and_lymphoid_tissue COSM970135 MYST1 c.915G>A p.E305E Substitution - coding silent Endometrium COSM478002 ASXL1 c.462T>C p.A154A Substitution - coding silent Kidney COSM5638689 KDM3A c.1107C>G p.L369L Substitution - coding silent Oesophagus COSM5020669 TRIM24 c.2266C>T p.P756S Substitution - Missense Soft_tissue COSM254836 NCOR1 c.3016+1G>T p.? Unknown Urinary_tract COSM1093 SMARCB1 c.1158+116insG p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3701353 ASXL3 c.2535G>T p.G845G Substitution - coding silent Liver COSM5895036 MBD1 c.1349C>T p.P450L Substitution - Missense Skin COSM1106298 GTF3C4 c.2028C>T p.I676I Substitution - coding silent Large_intestine COSM731347 BRPF1 c.2115C>G p.L705L Substitution - coding silent Lung COSM3910077 DNMT3A c.1342T>C p.Y448H Substitution - Missense Skin COSM3806099 BRDT c.1358A>G p.E453G Substitution - Missense Breast COSM4916607 ZMYM4 c.1889A>G p.Q630R Substitution - Missense Liver COSM3766011 SMYD4 c.1684C>T p.R562W Substitution - Missense Liver COSM3294850 ZMYND8 c.2601G>A p.S867S Substitution - coding silent Biliary_tract COSM4751600 ARID1A c.2834G>A p.G945E Substitution - Missense Skin COSM1468548 SMC1A c.3178G>A p.E1060K Substitution - Missense Large_intestine COSM130414 DNMT3A c.2275_2276insT p.A760fs*5 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4915595 SMARCA4 c.3479G>A p.G1160E Substitution - Missense Liver COSM1123281 PHF8 c.325A>C p.N109H Substitution - Missense Endometrium COSM4383584 DNMT3A c.1102G>A p.A368T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM110721 BAP1 c.178C>T p.R60* Substitution - Nonsense Skin COSM219076 TET2 c.? p.Q1084* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4804927 ACTR6 c.567T>A p.S189S Substitution - coding silent Liver COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM942786 ING4 c.494G>A p.R165H Substitution - Missense Endometrium COSM3403743 CARM1 c.383G>A p.R128Q Substitution - Missense Central_nervous_system COSM5620227 AKAP1 c.1147G>T p.G383W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1196836 NCOA2 c.1699G>T p.V567F Substitution - Missense Lung COSM4651965 ASH1L c.5478C>T p.V1826V Substitution - coding silent Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4582492 BRD1 c.353C>T p.P118L Substitution - Missense Bone COSM4787953 KMT2D c.4818C>A p.D1606E Substitution - Missense Liver COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1602157 ARID1A c.6393T>G p.N2131K Substitution - Missense Liver COSM231547 DNMT3A c.2651C>T p.A884V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1061309 KDM3B c.654T>C p.V218V Substitution - coding silent Endometrium COSM985538 CHD3 c.5684G>A p.R1895H Substitution - Missense Endometrium COSM5451571 CHD6 c.770A>G p.D257G Substitution - Missense Large_intestine COSM1756791 MBD6 c.1708C>T p.Q570* Substitution - Nonsense Urinary_tract COSM5721820 KMT2A c.11236C>T p.R3746C Substitution - Missense Skin COSM5352299 EP300 c.? p.M1157I Substitution - Missense Endometrium COSM175634 EZH1 c.1327C>T p.R443* Substitution - Nonsense Skin COSM307183 BAP1 c.518A>C p.Y173S Substitution - Missense Pleura COSM463808 RBBP5 c.44A>G p.E15G Substitution - Missense Kidney COSM4651322 BAHCC1 c.5197C>T p.R1733W Substitution - Missense Large_intestine COSM4642780 SMARCC1 c.1916A>G p.K639R Substitution - Missense Large_intestine COSM3432953 GTF3C4 c.2188C>A p.L730M Substitution - Missense Large_intestine COSM3789906 PRDM16 c.3538G>T p.E1180* Substitution - Nonsense Urinary_tract COSM1233539 ZMYM6 c.1062+2T>C p.? Unknown Large_intestine COSM3347181 EHMT2 c.1079G>A p.R360H Substitution - Missense Large_intestine COSM1754199 NSD1 c.3276G>C p.Q1092H Substitution - Missense Urinary_tract COSM4442170 SETD7 c.361A>T p.I121L Substitution - Missense Large_intestine COSM4566514 DNMT1 c.3945_3946CC>TT p.(=) Unknown Skin COSM4902547 PRDM16 c.1148A>C p.Q383P Substitution - Missense Skin COSM1747320 ACTR6 c.23A>G p.N8S Substitution - Missense Urinary_tract COSM1314140 CHD7 c.5898G>C p.W1966C Substitution - Missense Urinary_tract COSM4460567 LMNA c.1170C>T p.S390S Substitution - coding silent Skin COSM4680505 EHMT2 c.1252C>T p.R418* Substitution - Nonsense Large_intestine COSM1457131 MYST3 c.5078_5079insC p.P1694fs*13 Insertion - Frameshift Large_intestine COSM4384040 NSD1 c.20T>C p.L7P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4516762 UHRF2 c.2279_2280CC>TT p.S760F Substitution - Missense Skin COSM141398 HCFC2 c.2032C>T p.P678S Substitution - Missense Upper_aerodigestive_tract COSM2007025 KMT2D c.7201G>A p.G2401S Substitution - Missense Large_intestine COSM5819089 SFMBT2 c.2524G>T p.A842S Substitution - Missense Liver COSM3973835 ZMYM3 c.3222G>T p.W1074C Substitution - Missense Central_nervous_system COSM3923198 KMT2C c.6916C>T p.P2306S Substitution - Missense Skin COSM1326816 ASXL1 c.2754C>T p.H918H Substitution - coding silent Ovary COSM3772482 DNMT1 c.4509C>T p.T1503T Substitution - coding silent Pancreas COSM5777162 KIAA2026_ENST00000399933 c.62C>A p.P21Q Substitution - Missense Breast COSM3699932 JMJD1C c.6849C>T p.V2283V Substitution - coding silent Liver COSM5807686 GABRG1 c.1017T>C p.V339V Substitution - coding silent Liver COSM753852 PHF2 c.851G>T p.W284L Substitution - Missense Lung COSM5708574 TBL1XR1 c.1183T>G p.Y395D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5984512 SMARCB1 c.30C>T p.F10F Substitution - coding silent Upper_aerodigestive_tract COSM3237278 KDM3B c.942C>T p.S314S Substitution - coding silent Upper_aerodigestive_tract COSM1436886 PRDM9 c.1402T>C p.W468R Substitution - Missense Large_intestine COSM707758 KDM6B c.650C>T p.P217L Substitution - Missense Lung COSM3631916 PHF14 c.1148C>T p.P383L Substitution - Missense Skin COSM4567645 KMT2C c.8036_8037CC>TT p.T2679I Substitution - Missense Skin COSM4068933 BPTF c.5878A>T p.T1960S Substitution - Missense Stomach COSM221515 RNF17 c.368C>A p.T123N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1348577 JMJD1C c.5364delA p.E1789fs*45 Deletion - Frameshift Pancreas COSM41649 TET2 c.4075C>T p.R1359C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1196158 KDM5C c.938G>A p.R313Q Substitution - Missense Lung COSM1078487 BRPF3 c.1347G>T p.K449N Substitution - Missense Endometrium COSM4384698 KMT2D c.13913C>T p.A4638V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716771 TET2 c.? p.S231fs*23 Frameshift Haematopoietic_and_lymphoid_tissue COSM1324490 SETD1A c.3176A>G p.E1059G Substitution - Missense Ovary COSM5752543 ATRX c.7072-1G>T p.? Unknown Breast COSM5429815 ATF7IP c.1487C>G p.S496C Substitution - Missense Oesophagus COSM42002 TET2 c.694C>T p.Q232* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3630736 ZCWPW1 c.1118C>A p.P373Q Substitution - Missense Skin COSM5457314 KMT2C c.14106C>T p.A4702A Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4816745 TAF3 c.102C>G p.L34L Substitution - coding silent Cervix COSM4461601 WHSC1L1 c.1212C>T p.S404S Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5075581 DNMT3A c.2695C>T p.R899C Substitution - Missense Kidney COSM5912749 CHD7 c.2636C>T p.P879L Substitution - Missense Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM88748 CREBBP c.4337G>A p.R1446H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM23059 MEN1 c.? p.? Unknown Small_intestine COSM52829 PBRM1 c.3221_3222delAA p.K1074fs*32 Deletion - Frameshift Kidney COSM3033655 MECP2 c.1179C>T p.P393P Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM53311 IDH2 c.? p.R140W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM294028 KIAA1045 c.471C>T p.G157G Substitution - coding silent Large_intestine COSM1619532 KDM3B c.4934A>T p.D1645V Substitution - Missense Liver COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5735262 PRDM2 c.196A>G p.R66G Substitution - Missense Small_intestine COSM954443 CHD8 c.2605T>C p.S869P Substitution - Missense Endometrium COSM3554483 CBX7 c.469C>T p.P157S Substitution - Missense Skin COSM480367 PBRM1 c.2128C>T p.R710* Substitution - Nonsense Biliary_tract COSM3986770 EP400 c.6128C>T p.A2043V Substitution - Missense Kidney COSM99739 DNMT3A c.2446C>T p.Q816* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4439311 BAHCC1 c.2731T>A p.S911T Substitution - Missense Oesophagus COSM1349988 HELLS c.1549A>C p.N517H Substitution - Missense Large_intestine COSM1290519 CREBBP c.35C>A p.P12H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4787782 JARID2 c.1844A>G p.H615R Substitution - Missense Liver COSM5444772 ATRX c.2375C>G p.T792S Substitution - Missense Oesophagus COSM255224 ASXL1 c.718+10G>A p.? Unknown Central_nervous_system COSM4532750 SP140_ENST00000392045 c.1914G>A p.K638K Substitution - coding silent Skin COSM467081 PHRF1 c.2808C>A p.P936P Substitution - coding silent Kidney COSM3877891 SND1 c.1116C>T p.S372S Substitution - coding silent Stomach COSM1079882 TDRD6 c.1484T>G p.F495C Substitution - Missense Endometrium COSM5471305 AIRE c.1503+9C>T p.? Unknown Large_intestine COSM5602270 SETD1A c.362A>C p.E121A Substitution - Missense Skin COSM3673983 DHX30 c.805C>G p.H269D Substitution - Missense Prostate COSM451292 RING1 c.1004A>G p.E335G Substitution - Missense Upper_aerodigestive_tract COSM234451 BRWD1 c.4065T>C p.D1355D Substitution - coding silent Skin COSM1732144 PBRM1 c.1573delA p.I525fs*44 Deletion - Frameshift Kidney COSM939526 ARID2 c.5219C>T p.A1740V Substitution - Missense Endometrium COSM1724609 PHF8 c.2383_2385delGAG p.E795delE Deletion - In frame Large_intestine COSM358696 KMT2D c.1965C>T p.P655P Substitution - coding silent Lung COSM1749384 CHD2 c.839C>T p.S280F Substitution - Missense Urinary_tract COSM5423377 KDM3B c.360+1_360+2insGGGT p.? Unknown Prostate COSM53268 TET2 c.3456_3456delA p.A1153fs*73 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4141794 NIPBL c.6840G>A p.Q2280Q Substitution - coding silent Ovary COSM1635383 BAZ1B c.2533A>G p.R845G Substitution - Missense Liver COSM5771807 SETDB1 c.392A>G p.D131G Substitution - Missense Breast COSM32473 CHD5 c.355G>A p.D119N Substitution - Missense Breast COSM249803 DNMT3A c.2128T>A p.C710S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM21736 RAD54L c.1252C>T p.P418S Substitution - Missense Skin COSM37030 EZH2 c.1936T>C p.Y646H Substitution - Missense Skin COSM23052 MEN1 c.445+2delTTGG p.? Unknown Parathyroid COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53037 EZH2 c.1525A>G p.R509G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53200 ASXL1 c.1773C>G p.Y591* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM51236 ARID1A c.2122C>T p.Q708* Substitution - Nonsense Ovary COSM76667 TAF1 c.5199A>C p.E1733D Substitution - Missense Bone COSM88759 CREBBP c.2254C>T p.Q752* Substitution - Nonsense Skin COSM96442 EP300 c.4401_4402insA p.M1470fs*3 Insertion - Frameshift Large_intestine COSM132898 TET2 c.5038C>T p.Q1680* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM133730 DNMT3A c.866_866delG p.G289fs*27 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM167796 CHD6 c.3189C>T p.D1063D Substitution - coding silent Stomach COSM219034 PHF8 c.2011G>C p.D671H Substitution - Missense Pancreas COSM234499 CBX5 c.276C>T p.S92S Substitution - coding silent Skin COSM247464 SMARCC1 c.3213C>T p.N1071N Substitution - coding silent Prostate COSM254833 MYST1 c.419G>A p.R140H Substitution - Missense Urinary_tract COSM259302 ACTR8 c.1138C>T p.R380* Substitution - Nonsense Skin COSM278973 ARID4A c.1753C>T p.R585* Substitution - Nonsense Large_intestine COSM276727 PHF2 c.1901A>C p.K634T Substitution - Missense Large_intestine COSM296466 CHD8 c.7496C>A p.P2499H Substitution - Missense Large_intestine COSM315440 SMC1A c.2563-1G>A p.? Unknown Soft_tissue COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Central_nervous_system COSM318487 ACTA1 c.1103G>C p.G368A Substitution - Missense Lung COSM327313 PHF6 c.346C>T p.R116* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM327313 PHF6 c.346C>T p.R116* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM385747 ZMYM3 c.1903C>G p.H635D Substitution - Missense Lung COSM420364 BAP1 c.673G>C p.D225H Substitution - Missense Urinary_tract COSM454810 PRDM14 c.616C>T p.L206L Substitution - coding silent Breast COSM467449 RSF1 c.1614A>C p.E538D Substitution - Missense Kidney COSM480459 PBRM1 c.139-2A>G p.? Unknown Kidney COSM675834 PYGO2 c.333G>A p.A111A Substitution - coding silent Lung COSM691514 HCFC2 c.1283G>C p.S428T Substitution - Missense Lung COSM954445 CHD8 c.2227-2A>G p.? Unknown Endometrium COSM757234 KDM6A c.2702G>A p.R901K Substitution - Missense Lung COSM725899 DNMT3L c.644C>G p.P215R Substitution - Missense Lung COSM723656 CHD6 c.4031A>T p.N1344I Substitution - Missense Lung COSM740315 JARID2 c.3527G>A p.R1176Q Substitution - Missense Lung COSM728095 ZBTB38 c.570A>G p.K190K Substitution - coding silent Lung COSM908652 ZMYM1 c.3374C>A p.P1125H Substitution - Missense Endometrium COSM1040960 MECOM c.2996C>T p.P999L Substitution - Missense Endometrium COSM1034550 EP300 c.3841C>T p.R1281* Substitution - Nonsense Endometrium COSM1127358 ASH1L c.681T>A p.C227* Substitution - Nonsense Prostate COSM1114028 ZBTB33 c.1003A>G p.I335V Substitution - Missense Endometrium COSM1083687 MLL5 c.3427G>A p.D1143N Substitution - Missense Stomach COSM1166763 DNMT3A c.2706delC p.F902fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1243396 MBD5 c.3752C>T p.P1251L Substitution - Missense Oesophagus COSM1199738 CBX6 c.596G>A p.R199H Substitution - Missense Large_intestine COSM1197180 JARID2 c.1364C>T p.S455L Substitution - Missense Soft_tissue COSM1184436 BAP1 c.382G>T p.G128* Substitution - Nonsense Kidney COSM1226915 SMYD2 c.380A>C p.K127T Substitution - Missense Large_intestine COSM1191049 KAT6B c.4944_4945insC p.M1649fs*20 Insertion - Frameshift Lung COSM1606141 ARID2 c.3817C>T p.R1273* Substitution - Nonsense Oesophagus COSM1325213 UHRF1 c.1344+2T>C p.? Unknown Ovary COSM1320096 TTF2 c.2080A>T p.T694S Substitution - Missense Ovary COSM1391080 BRD4 c.1729A>G p.N577D Substitution - Missense Large_intestine COSM1466696 HCFC1 c.2447delT p.L816fs*11 Deletion - Frameshift Large_intestine COSM1464304 TDRD7 c.713A>G p.Q238R Substitution - Missense Large_intestine COSM1353848 PRDM11 c.855G>T p.R285S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1566057 PRDM15 c.4225G>A p.V1409M Substitution - Missense Urinary_tract COSM1489868 PSIP1 c.288+1G>T p.? Unknown Breast COSM1587033 ZMYM2 c.190G>A p.E64K Substitution - Missense Endometrium COSM1583064 DNMT3A c.1489T>G p.C497G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1630065 NCOR1 c.4513G>A p.V1505I Substitution - Missense Liver COSM1626157 BRWD3 c.2838T>C p.L946L Substitution - coding silent Liver COSM1621963 PHIP c.4416A>T p.E1472D Substitution - Missense Liver COSM1665745 SETDB1 c.2881delC p.S962fs*4 Deletion - Frameshift Kidney COSM1731055 EPC2 c.158A>T p.H53L Substitution - Missense Liver COSM1729986 SETBP1 c.779T>C p.F260S Substitution - Missense Liver COSM1724995 TET2 c.4541delT p.L1515fs*56 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2154660 TDRD10 c.574G>A p.V192I Substitution - Missense Central_nervous_system COSM2160837 SFMBT2 c.795C>T p.A265A Substitution - coding silent Cervix COSM2150972 ACTB c.1038delG p.A347fs*>29 Deletion - Frameshift Central_nervous_system COSM2874955 EYA1 c.448G>T p.G150C Substitution - Missense Large_intestine COSM3097852 BRWD3 c.1807C>T p.R603W Substitution - Missense Stomach COSM3148807 DNMT1 c.1488G>A p.A496A Substitution - coding silent Large_intestine COSM3385880 ACTA1 c.7G>A p.D3N Substitution - Missense Pancreas COSM3463531 BAZ2A_ENST00000379441 c.2999C>T p.S1000F Substitution - Missense Skin COSM3450150 GLYATL1 c.798G>A p.M266I Substitution - Missense Skin COSM3589889 MECOM c.862C>T p.P288S Substitution - Missense Skin COSM3584444 KDM5D c.2166C>T p.S722S Substitution - coding silent Skin COSM3547331 EYA2 c.437G>A p.G146E Substitution - Missense Skin COSM3539441 SUV420H2 c.1095C>T p.H365H Substitution - coding silent Skin COSM3644831 ATAD2 c.2204T>A p.L735* Substitution - Nonsense Skin COSM3742791 BRD4 c.1545G>A p.Q515Q Substitution - coding silent Liver COSM3841216 NCOA3 c.3410C>G p.S1137C Substitution - Missense Breast COSM3873109 RING1 c.517G>A p.E173K Substitution - Missense Stomach COSM3876896 MLL5 c.226G>A p.A76T Substitution - Missense Stomach COSM3966582 SCMH1 c.342G>A p.S114S Substitution - coding silent Central_nervous_system COSM4031597 PHC2 c.516C>T p.G172G Substitution - coding silent Stomach COSM4111267 BRWD3 c.2522T>C p.V841A Substitution - Missense Stomach COSM4136067 MBD5 c.1360G>C p.E454Q Substitution - Missense Ovary COSM4150948 TP53BP1 c.3358A>G p.M1120V Substitution - Missense Kidney COSM4156326 L3MBTL2 c.905T>G p.V302G Substitution - Missense Thyroid COSM4408194 CHD2 c.4637G>A p.R1546Q Substitution - Missense Pancreas COSM4595612 SETD1A c.2689C>G p.R897G Substitution - Missense Upper_aerodigestive_tract COSM4601569 DOT1L c.3770C>T p.A1257V Substitution - Missense Upper_aerodigestive_tract COSM4593164 EP400 c.6637A>C p.T2213P Substitution - Missense Upper_aerodigestive_tract COSM4507870 PRDM7 c.141C>T p.I47I Substitution - coding silent Skin COSM4553802 MLL5 c.601G>A p.E201K Substitution - Missense Skin COSM4495901 SETD1B c.1274C>T p.P425L Substitution - Missense Skin COSM4549004 MLL5 c.4626G>A p.T1542T Substitution - coding silent Skin COSM4427474 SMARCA5 c.2007C>G p.I669M Substitution - Missense Oesophagus COSM4500635 ARID1A c.5705C>T p.P1902L Substitution - Missense Skin COSM4459458 BAG6 c.1108C>T p.P370S Substitution - Missense Skin COSM4445905 EZH2 c.1505+3G>A p.? Unknown Skin COSM4411369 ATRX c.165T>A p.D55E Substitution - Missense Kidney COSM4769351 BRD9 c.983+10G>A p.? Unknown Pancreas COSM4765564 CHD4 c.2836_2837insA p.L946fs*3 Insertion - Frameshift Stomach COSM4735994 TRIM24 c.3019_3020insA p.R1009fs*10 Insertion - Frameshift Large_intestine COSM4725324 SFMBT2 c.2083C>T p.R695W Substitution - Missense Large_intestine COSM4768279 RNF17 c.541G>C p.E181Q Substitution - Missense Biliary_tract COSM4762576 SETDB1 c.2885C>G p.S962* Substitution - Nonsense Stomach COSM4651709 HCFC1 c.1354G>A p.A452T Substitution - Missense Large_intestine COSM4627079 KDM5A c.3048T>C p.N1016N Substitution - coding silent Large_intestine COSM4757129 PRDM14 c.965G>T p.G322V Substitution - Missense Stomach COSM4801640 MBTD1 c.71C>G p.P24R Substitution - Missense Liver COSM4791474 BAZ1A c.3319C>T p.R1107C Substitution - Missense Large_intestine COSM4846425 NCOA6 c.5867C>T p.S1956F Substitution - Missense Cervix COSM4819130 ADNP c.2189G>T p.R730L Substitution - Missense Cervix COSM4949635 ARID1A c.31_56del26 p.S11fs*91 Deletion - Frameshift Salivary_gland COSM5003101 MBD1 c.19G>A p.D7N Substitution - Missense Pancreas COSM5003316 NSD1 c.4024C>A p.P1342T Substitution - Missense Pancreas COSM5003455 CREBBP c.2900G>A p.S967N Substitution - Missense Pancreas COSM4997568 CREBBP c.5635C>A p.Q1879K Substitution - Missense Large_intestine COSM5017418 ARID1B c.1778A>G p.H593R Substitution - Missense Soft_tissue COSM5078127 RAI1 c.186C>T p.G62G Substitution - coding silent Large_intestine COSM5049096 PBRM1 c.1672T>C p.Y558H Substitution - Missense Oesophagus COSM5415798 KDM6A c.3122delC p.S1042fs*6 Deletion - Frameshift Prostate COSM5415896 KMT2D c.4048_4051delGAGG p.E1350fs*98 Deletion - Frameshift Soft_tissue COSM5366881 HCFC1 c.4870G>A p.D1624N Substitution - Missense Large_intestine COSM5380788 ZMYM6 c.442C>T p.P148S Substitution - Missense Skin COSM5490709 ZMYM4 c.3529-2A>G p.? Unknown Biliary_tract COSM5741265 CXXC1 c.1129G>T p.G377W Substitution - Missense Small_intestine COSM5734241 NIPBL c.4264_4265insT p.V1424fs*6 Insertion - Frameshift Pancreas COSM5619354 CDYL c.1350T>C p.I450I Substitution - coding silent Breast COSM5583289 ARID1A c.2039C>T p.P680L Substitution - Missense Skin COSM5600203 PHIP c.5235G>A p.K1745K Substitution - coding silent Skin COSM5610614 SMARCA4 c.4014G>A p.M1338I Substitution - Missense Skin COSM5569689 SMC1A c.84C>T p.T28T Substitution - coding silent Prostate COSM5783077 DNMT3L c.220G>T p.A74S Substitution - Missense Breast COSM5827146 EP400 c.8209_8210insAGC p.Q2748_T2749insQ Insertion - In frame Large_intestine COSM5937724 KDM6B c.2179G>A p.E727K Substitution - Missense Skin COSM5892528 BRDT c.997G>A p.D333N Substitution - Missense Skin COSM5989620 TET2 c.1024delG p.G342fs*5 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM6003464 UHRF1 c.2068G>A p.A690T Substitution - Missense Prostate COSM5969393 ZMYM6 c.1308A>G p.L436L Substitution - coding silent Upper_aerodigestive_tract COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1666636 MSH6 c.? p.K1358fs*2 Unknown Ovary COSM5415914 TET2 c.? p.Y1902H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1626407 SETDB1 c.1493C>G p.S498C Substitution - Missense Liver COSM1087053 EZH2 c.867T>C p.C289C Substitution - coding silent Endometrium COSM5039336 LMNB1 c.813+1G>A p.? Unknown Liver COSM4854321 FMR1 c.694C>G p.L232V Substitution - Missense Cervix COSM1258844 NCOA6 c.1541G>A p.R514H Substitution - Missense Stomach COSM4915149 RTF1 c.986A>G p.K329R Substitution - Missense Liver COSM369843 PHC1 c.1105+1G>T p.? Unknown Lung COSM5657024 RNF134 c.86T>C p.V29A Substitution - Missense Soft_tissue COSM229580 KDM6B c.3530C>T p.P1177L Substitution - Missense Skin COSM970050 SETD1A c.3761C>T p.A1254V Substitution - Missense Endometrium COSM5879015 TET2 c.3549_3594+46del92 p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5816926 TIF1 c.368G>A p.G123E Substitution - Missense Liver COSM3689994 MTA1 c.2116G>A p.V706I Substitution - Missense Large_intestine COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM422383 KIAA1045 c.787A>G p.I263V Substitution - Missense Urinary_tract COSM3358481 PBRM1 c.4242delG p.T1415fs*17 Deletion - Frameshift Kidney COSM5945522 KDM6A c.4075C>T p.Q1359* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41644 TET2 c.1648C>T p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM230133 KMT2C c.1173C>A p.C391* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3901338 NCOA2 c.3361G>A p.D1121N Substitution - Missense Stomach COSM1579545 MBD1 c.596C>T p.P199L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4703531 MTF2 c.231C>G p.F77L Substitution - Missense Large_intestine COSM4713957 PHF17 c.959A>G p.E320G Substitution - Missense Large_intestine COSM3991128 SP110 c.582A>C p.S194S Substitution - coding silent Kidney COSM3622285 ARID1B c.4147C>T p.Q1383* Substitution - Nonsense Skin COSM73810 BAZ1B c.3098A>G p.H1033R Substitution - Missense Ovary COSM75427 KMT2C c.1097A>C p.Y366S Substitution - Missense Ovary COSM5786667 TRIM28 c.1387C>T p.P463S Substitution - Missense Breast COSM1125889 BRWD3 c.755G>A p.R252Q Substitution - Missense Endometrium COSM3463372 SMARCC2 c.2704A>G p.K902E Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5750312 CHD9 c.337G>T p.G113C Substitution - Missense Stomach COSM3761008 HDAC3 c.165A>G p.Q55Q Substitution - coding silent Thyroid COSM5135421 PHF23 c.482delC p.P161fs*63 Deletion - Frameshift Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM4099081 ZMYND8 c.1442C>T p.A481V Substitution - Missense Stomach COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Soft_tissue COSM4741210 WHSC1 c.3886T>C p.C1296R Substitution - Missense Large_intestine COSM275569 ING3 c.563G>A p.R188Q Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM4396489 ATAD2 c.2225C>T p.P742L Substitution - Missense Skin COSM1196307 DOT1L c.493G>T p.G165C Substitution - Missense Lung COSM5617555 KDM6A c.2702+5G>T p.? Unknown Lung COSM4146786 SETD8 c.364G>C p.G122R Substitution - Missense Thyroid COSM4954512 SETD2 c.5524G>A p.V1842M Substitution - Missense Liver COSM5956407 PRDM9 c.1774C>A p.Q592K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Bone COSM444188 DIDO1 c.4516G>A p.A1506T Substitution - Missense Large_intestine COSM1673963 PRDM14 c.1081G>A p.E361K Substitution - Missense Skin COSM147495 KMT2D c.11700A>G p.P3900P Substitution - coding silent Soft_tissue COSM4015208 SIRT1 c.1546C>T p.R516* Substitution - Nonsense Stomach COSM4789679 MORF4L1 c.550G>T p.E184* Substitution - Nonsense Liver COSM384411 PRMT2 c.902C>G p.S301C Substitution - Missense Lung COSM1710950 L3MBTL4 c.163G>A p.E55K Substitution - Missense Skin COSM88734 CREBBP c.3718T>C p.C1240R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5018168 BAHD1 c.1741_1743delCGC p.R587delR Deletion - In frame Soft_tissue COSM4384278 EZH2 c.1582T>C p.C528R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85916 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1979097 ALKBH3 c.856T>C p.W286R Substitution - Missense Large_intestine COSM1050501 PRDM5 c.1231G>T p.A411S Substitution - Missense Endometrium COSM294843 SP140_ENST00000392045 c.1415C>T p.T472M Substitution - Missense Large_intestine COSM3678193 TP53BP1 c.1234G>C p.G412R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM248850 KMT2A c.5953-2A>G p.? Unknown Pancreas COSM4170411 KMT2D c.11327G>A p.G3776E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM971432 CHD9 c.5962C>T p.R1988C Substitution - Missense Endometrium COSM3991925 SETD4 c.1320C>G p.T440T Substitution - coding silent Kidney COSM709115 L3MBTL4 c.528G>T p.K176N Substitution - Missense Lung COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Large_intestine COSM1378312 CHD9 c.2274delT p.F760fs*16 Deletion - Frameshift Stomach COSM4593742 AP001011.3_ENST00000320876 c.35C>G p.A12G Substitution - Missense Upper_aerodigestive_tract COSM5702533 BAP1 c.370_372delCCT p.P124del Deletion - In frame Eye COSM43472 TET2 c.412C>? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5674822 BAHCC1 c.4616C>T p.P1539L Substitution - Missense Soft_tissue COSM4071707 SMCHD1 c.2679C>T p.C893C Substitution - coding silent Stomach COSM5958136 KIAA2026_ENST00000399933 c.2784A>C p.K928N Substitution - Missense Thyroid COSM1069 SMARCB1 c.669_670delTG p.C223fs*1 Deletion - Frameshift Soft_tissue COSM50972 GTF3C1 c.3660G>T p.L1220L Substitution - coding silent Breast COSM355803 HDAC6 c.265G>T p.V89L Substitution - Missense Lung COSM1130127 CBX4 c.657T>G p.G219G Substitution - coding silent Prostate COSM5399498 DHX30 c.443C>A p.S148Y Substitution - Missense Skin COSM5061289 PRDM13 c.1891C>T p.R631C Substitution - Missense Stomach COSM4694058 MYST3 c.2977_2979delGAG p.E993delE Deletion - In frame Large_intestine COSM204366 PHF15 c.1946G>A p.R649H Substitution - Missense Prostate COSM1628235 RSF1 c.677A>G p.E226G Substitution - Missense Liver COSM337415 INOC1 c.3813C>G p.D1271E Substitution - Missense Lung COSM5785254 L3MBTL2 c.182C>G p.A61G Substitution - Missense Breast COSM5951575 PBRM1 c.3392_3393insA p.E1132fs*11 Insertion - Frameshift Oesophagus COSM3259673 EZH2 c.835C>T p.H279Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4886262 NCOA7 c.2734G>T p.G912* Substitution - Nonsense Upper_aerodigestive_tract COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM96423 EP300 c.3038A>G p.E1013G Substitution - Missense Breast COSM5706124 CREBBP c.6893A>G p.Q2298R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM30722 SETD1B c.365C>T p.P122L Substitution - Missense Kidney COSM1682348 BRD1 c.1816C>T p.P606S Substitution - Missense Large_intestine COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Biliary_tract COSM352592 SRCAP c.6965C>T p.A2322V Substitution - Missense Lung COSM3931460 EED c.624A>C p.S208S Substitution - coding silent Urinary_tract COSM4060203 SRCAP c.5199T>G p.S1733S Substitution - coding silent Stomach COSM5886993 ASXL3 c.1481C>T p.S494F Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4540876 PHIP c.2903G>A p.R968Q Substitution - Missense Skin COSM3705561 LBR c.935C>G p.S312C Substitution - Missense Liver COSM22140 NIPBL c.7263+1G>A p.? Unknown Large_intestine COSM1751449 ACTR5 c.1597G>A p.A533T Substitution - Missense Urinary_tract COSM1743911 NIPBL c.457A>T p.S153C Substitution - Missense Biliary_tract COSM5732592 SETD1A c.535T>C p.Y179H Substitution - Missense Pancreas COSM5466968 MLL5 c.1507G>T p.D503Y Substitution - Missense Large_intestine COSM5952661 DAXX c.778C>T p.R260C Substitution - Missense Oesophagus COSM168759 TRIM24 c.2161C>T p.R721* Substitution - Nonsense Endometrium COSM2983338 ZCWPW2 c.798G>A p.T266T Substitution - coding silent Skin COSM4097968 PHF20 c.238G>A p.E80K Substitution - Missense Stomach COSM3662782 ZCWPW1 c.1318+10A>G p.? Unknown Liver COSM3921137 HDGFL1 c.519G>A p.A173A Substitution - coding silent Skin COSM1716606 ATRX c.549delA p.D184fs*22 Deletion - Frameshift Central_nervous_system COSM3825264 SMARCA5 c.588G>A p.E196E Substitution - coding silent Breast COSM3668537 PRMT2 c.1272T>C p.V424V Substitution - coding silent Liver COSM5707778 MBD5 c.4297G>C p.G1433R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4752833 RAG2 c.1480G>T p.V494F Substitution - Missense Stomach COSM4010647 MTF2 c.782G>A p.R261H Substitution - Missense Stomach COSM1462675 UHRF2 c.1277delG p.G427fs*39 Deletion - Frameshift Large_intestine COSM1351613 KMT2A c.3460C>T p.R1154W Substitution - Missense Large_intestine COSM3842766 EP300 c.5854A>G p.I1952V Substitution - Missense Breast COSM3657069 KIAA1045 c.444G>A p.R148R Substitution - coding silent Skin COSM2171601 DMAP1 c.755G>A p.R252H Substitution - Missense Large_intestine COSM3186037 MSH6 c.3475_3476insA p.Y1159fs*1 Insertion - Frameshift Large_intestine COSM4422501 PRDM15 c.1881A>G p.E627E Substitution - coding silent Kidney COSM445987 TBL1XR1 c.422_423delTA p.I141fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1296223 ARID1A c.3283C>T p.Q1095* Substitution - Nonsense Stomach COSM283396 NSD1 c.4163A>C p.E1388A Substitution - Missense Large_intestine COSM5724035 BTAF1 c.1257C>T p.V419V Substitution - coding silent Skin COSM1194420 MTA1 c.1123G>T p.G375C Substitution - Missense Lung COSM4883278 KMT2C c.11388C>A p.G3796G Substitution - coding silent Upper_aerodigestive_tract COSM3364304 EPC2 c.1301G>T p.R434M Substitution - Missense Kidney COSM1087674 KMT2C c.167G>A p.R56Q Substitution - Missense Large_intestine COSM4548387 EYA2 c.445G>A p.G149R Substitution - Missense Skin COSM4478359 ASXL3 c.1352C>T p.S451F Substitution - Missense Skin COSM5771959 L3MBTL3 c.1407+5G>C p.? Unknown Breast COSM5386854 AKAP1 c.1011C>T p.G337G Substitution - coding silent Skin COSM1753360 ATXN7 c.2543A>G p.N848S Substitution - Missense Urinary_tract COSM4603246 RNF134 c.84_85insGCCTCC p.P28_V29insAS Insertion - In frame Upper_aerodigestive_tract COSM5759433 TBL1XR1 c.125C>T p.A42V Substitution - Missense Bone COSM4742890 ZMYM1 c.2259A>T p.S753S Substitution - coding silent Large_intestine COSM264851 ZMYND11 c.602C>T p.A201V Substitution - Missense Large_intestine COSM328978 KMT2C c.8390delA p.K2797fs*26 Deletion - Frameshift Breast COSM1169639 DNMT3A c.55C>T p.R19W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4451587 HCFC2 c.1303A>G p.S435G Substitution - Missense Skin COSM1009813 ATF2 c.26C>A p.S9Y Substitution - Missense Endometrium COSM206743 ASH1L c.7567C>T p.R2523C Substitution - Missense Endometrium COSM1634391 CHD1 c.2729A>G p.Y910C Substitution - Missense Liver COSM4187525 KMT2D c.8467C>T p.P2823S Substitution - Missense Kidney COSM3357385 PHF6 c.374+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4484153 SETD5_ENST00000402198 c.2774C>T p.S925F Substitution - Missense Skin COSM1117795 MECP2 c.1431C>T p.S477S Substitution - coding silent Endometrium COSM5557654 KDM6A c.3846G>T p.K1282N Substitution - Missense Prostate COSM5060647 KDM3B c.1983T>G p.S661S Substitution - coding silent Stomach COSM5596338 ATRX c.5379C>T p.T1793T Substitution - coding silent Skin COSM3598848 TET2 c.137C>T p.P46L Substitution - Missense Skin COSM5801953 RBBP5 c.4_7delAACC p.N2fs*26 Deletion - Frameshift Breast COSM162841 NCOA7 c.2134C>T p.P712S Substitution - Missense Breast COSM145335 DPF2 c.665C>T p.P222L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1026704 ACTR5 c.1015A>G p.M339V Substitution - Missense Endometrium COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3909084 PHF2 c.2804C>T p.A935V Substitution - Missense Stomach COSM3322587 PHF19 c.1489C>T p.R497C Substitution - Missense Large_intestine COSM937492 ATF7IP c.241C>T p.P81S Substitution - Missense Endometrium COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM214318 PRDM4 c.502C>T p.R168C Substitution - Missense Breast COSM5946211 KDM6A c.388delG p.A130fs*50 Deletion - Frameshift Pancreas COSM5019620 KMT2C c.1179C>T p.N393N Substitution - coding silent Soft_tissue COSM4841648 CHD3 c.2575C>G p.L859V Substitution - Missense Cervix COSM3383985 TDG c.698-1G>C p.? Unknown Pancreas COSM1667867 TTF2 c.2348T>C p.L783P Substitution - Missense Large_intestine COSM5060143 SMARCA5 c.831G>A p.P277P Substitution - coding silent Stomach COSM5908450 TET2 c.1661C>T p.P554L Substitution - Missense Skin COSM5823179 HCFC2 c.602A>C p.K201T Substitution - Missense Liver COSM4104698 PHF21B c.1522C>T p.L508L Substitution - coding silent Stomach COSM4140105 CXXC1 c.1859G>A p.R620H Substitution - Missense Ovary COSM3689633 ZMYM6 c.48G>A p.Q16Q Substitution - coding silent Large_intestine COSM1215206 KMT2D c.8755G>A p.G2919R Substitution - Missense Large_intestine COSM3978241 MGMT c.559C>G p.L187V Substitution - Missense Lung COSM4921402 SETD3 c.197-2A>G p.? Unknown Liver COSM5009482 KMT2C c.1577G>C p.R526P Substitution - Missense Large_intestine COSM5614567 SETBP1 c.1180G>C p.E394Q Substitution - Missense Lung COSM3493328 BRDT c.1222G>A p.E408K Substitution - Missense Skin COSM911678 PHF13 c.637G>A p.D213N Substitution - Missense Endometrium COSM1349128 KAT6B c.3279G>A p.E1093E Substitution - coding silent Large_intestine COSM3934775 ORC1 c.216C>T p.F72F Substitution - coding silent Oesophagus COSM5512594 TDRD7 c.3239A>G p.D1080G Substitution - Missense Biliary_tract COSM1375538 CHD2 c.670C>T p.R224* Substitution - Nonsense Large_intestine COSM4115110 MECOM c.434A>G p.N145S Substitution - Missense Stomach COSM4036082 SUV420H1 c.1572T>C p.G524G Substitution - coding silent Stomach COSM53282 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1333445 PRDM2 c.672G>A p.P224P Substitution - coding silent Large_intestine COSM1051601 SMARCA5 c.425G>A p.R142Q Substitution - Missense Endometrium COSM3807762 TAF3 c.51C>A p.I17I Substitution - coding silent Breast COSM1348577 JMJD1C c.5364delA p.E1789fs*45 Deletion - Frameshift Large_intestine COSM268501 KMT2D c.6522C>T p.F2174F Substitution - coding silent Large_intestine COSM1025724 ASXL1 c.1480C>T p.P494S Substitution - Missense Endometrium COSM461648 KMT2C c.11069C>G p.S3690* Substitution - Nonsense Cervix COSM4884177 MBD6 c.954C>G p.F318L Substitution - Missense Upper_aerodigestive_tract COSM3618461 BRD9 c.1348C>T p.P450S Substitution - Missense Skin COSM5997855 ATAD2 c.2992C>T p.H998Y Substitution - Missense Prostate COSM5771983 TDRD7 c.2239G>C p.V747L Substitution - Missense Breast COSM2158379 JMJD1C c.5797C>T p.L1933F Substitution - Missense Large_intestine COSM948231 TDRD3 c.1004G>A p.R335H Substitution - Missense Endometrium COSM6007451 PRDM14 c.773C>T p.T258M Substitution - Missense Prostate COSM3954077 HCFC2 c.2148C>T p.I716I Substitution - coding silent Lung COSM4701389 MECOM c.1288A>G p.M430V Substitution - Missense Large_intestine COSM4446292 KDM5A c.4075-3C>T p.? Unknown Skin COSM4832668 EP400 c.6991G>A p.E2331K Substitution - Missense Cervix COSM5884467 ING3 c.138C>G p.F46L Substitution - Missense Large_intestine COSM5372990 PHRF1 c.3998C>T p.P1333L Substitution - Missense Skin COSM908607 ZMYM6 c.3691G>A p.E1231K Substitution - Missense Skin COSM3867908 TAF3 c.1759C>T p.P587S Substitution - Missense Skin COSM1159115 INTS12 c.705_712delTTCTGTAA p.V237fs*8 Deletion - Frameshift Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM266138 CAMKMT c.787C>T p.R263C Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5017269 DOT1L c.359_364delCCGACC p.D121_P122delDP Deletion - In frame Kidney COSM85985 ATRX c.794G>A p.C265Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5633274 KMT2A c.35G>T p.R12L Substitution - Missense Oesophagus COSM228110 KMT2C c.1042G>A p.D348N Substitution - Missense Thyroid COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM266035 ARID2 c.925A>G p.N309D Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1569595 CHD7 c.7504C>G p.L2502V Substitution - Missense Large_intestine COSM1748362 PRDM16 c.3724G>A p.E1242K Substitution - Missense Urinary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1193651 BRPF3 c.1963G>C p.E655Q Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4789876 UTY c.922A>G p.I308V Substitution - Missense Liver COSM1451626 ACTB c.590G>A p.G197D Substitution - Missense Large_intestine COSM707741 CBX8 c.964C>G p.R322G Substitution - Missense Lung COSM3563672 BRWD3 c.4528C>T p.L1510L Substitution - coding silent Skin COSM239713 EP400 c.2029G>A p.G677S Substitution - Missense Prostate COSM1245622 ATAD2B_ENST00000238789 c.3375C>T p.N1125N Substitution - coding silent Oesophagus COSM6009470 SETDB1 c.1719C>T p.Y573Y Substitution - coding silent Skin COSM328503 IKZF1 c.161-31360_850+4104>TCC p.? Unknown Haematopoietic_and_lymphoid_tissue COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM5005593 KDM1A c.2354A>C p.Y785S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM5599760 KDM6B c.3860C>T p.S1287F Substitution - Missense Skin COSM3989669 SMARCA4 c.3059A>G p.D1020G Substitution - Missense Kidney COSM3966531 PRDM16 c.3074G>A p.R1025Q Substitution - Missense Central_nervous_system COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM3862516 PRDM2 c.2291C>T p.T764I Substitution - Missense Skin COSM3859828 JARID2 c.1434A>G p.R478R Substitution - coding silent Stomach COSM5508066 EYA4 c.1567G>C p.D523H Substitution - Missense Biliary_tract COSM4064339 RAI1 c.2029G>T p.G677C Substitution - Missense Stomach COSM2269476 BAHD1 c.1384G>T p.A462S Substitution - Missense Upper_aerodigestive_tract COSM5748877 BAZ2B c.1291C>T p.R431W Substitution - Missense Pancreas COSM4633701 BAZ2A c.4090G>T p.A1364S Substitution - Missense Large_intestine COSM5575223 EP300 c.5006C>T p.T1669I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4155939 PRDM1 c.304-3C>T p.? Unknown Kidney COSM4187654 NIPBL c.6930_6937delTCAAGGTC p.Q2311fs*26 Deletion - Frameshift Kidney COSM4791668 TP53BP1 c.3814-1G>T p.? Unknown Liver COSM961201 BAHD1 c.413G>T p.S138I Substitution - Missense Endometrium COSM3745208 BRPF3 c.99A>G p.T33T Substitution - coding silent Liver COSM5916210 EP400 c.5423C>T p.S1808F Substitution - Missense Skin COSM131496 SMARCA4 c.4471C>T p.R1491* Substitution - Nonsense Large_intestine COSM1724609 PHF8 c.2383_2385delGAG p.E795delE Deletion - In frame Large_intestine COSM4120593 SETD5_ENST00000402198 c.3215G>A p.R1072Q Substitution - Missense Stomach COSM1018651 ATAD2B_ENST00000238789 c.2741A>G p.Q914R Substitution - Missense Endometrium COSM4031547 PRDM16 c.2748G>A p.A916A Substitution - coding silent Stomach COSM13925 SMARCC2 c.2736C>T p.I912I Substitution - coding silent Lung COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM130413 ARID1A c.2830C>T p.Q944* Substitution - Nonsense Breast COSM144223 ATRX c.4276C>T p.R1426* Substitution - Nonsense Central_nervous_system COSM142306 ASXL1 c.1998_1999delTG p.D667fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM166411 CREBBP c.3836+1G>A p.? Unknown Liver COSM215752 SMARCA4 c.3694G>A p.G1232S Substitution - Missense Central_nervous_system COSM216306 ZMYM1 c.1969G>T p.E657* Substitution - Nonsense Lung COSM231214 KAT6B c.3488C>T p.S1163L Substitution - Missense Skin COSM270142 SHPRH c.3698G>A p.C1233Y Substitution - Missense Large_intestine COSM258012 SIRT5 c.131G>A p.R44Q Substitution - Missense Breast COSM281634 HDAC6 c.3463C>T p.R1155C Substitution - Missense Large_intestine COSM307186 BAP1 c.438-19_441del23 p.? Unknown Pleura COSM317282 EP300 c.4453-3C>G p.? Unknown Lung COSM390327 TAF1L c.3166G>T p.A1056S Substitution - Missense Lung COSM396785 KMT2C c.2674G>A p.G892R Substitution - Missense Central_nervous_system COSM392375 ATXN7 c.1759delT p.S587fs*39 Deletion - Frameshift Lung COSM421836 TRRAP c.5113G>C p.G1705R Substitution - Missense Urinary_tract COSM460557 SRCAP c.1732C>G p.L578V Substitution - Missense Cervix COSM467030 GLYATL1 c.93G>C p.R31S Substitution - Missense Kidney COSM975870 NCOR1 c.4556C>T p.S1519L Substitution - Missense Endometrium COSM984430 ZBTB4 c.913G>A p.G305S Substitution - Missense Pancreas COSM1051183 PHF17 c.1922G>A p.R641H Substitution - Missense Endometrium COSM1029000 DIDO1 c.184C>T p.R62W Substitution - Missense Endometrium COSM1030661 BRWD1 c.6393G>A p.S2131S Substitution - coding silent Endometrium COSM1030687 BRWD1 c.4877G>A p.R1626Q Substitution - Missense Endometrium COSM1025785 DNMT3B c.317G>A p.R106Q Substitution - Missense Endometrium COSM919458 JMJD1C c.5520A>G p.L1840L Substitution - coding silent Endometrium COSM724831 DIDO1 c.3439G>T p.G1147C Substitution - Missense Lung COSM961349 INOC1 c.3530G>A p.R1177Q Substitution - Missense Endometrium COSM1034534 EP300 c.3117G>A p.P1039P Substitution - coding silent Liver COSM969258 GTF3C1 c.2485C>T p.R829W Substitution - Missense Endometrium COSM1073642 SIRT5 c.716T>G p.L239R Substitution - Missense Endometrium COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1229061 TFPT c.568C>T p.R190W Substitution - Missense Large_intestine COSM1233467 ZGPAT c.1457+2T>A p.? Unknown Large_intestine COSM1238246 ASXL1 c.664G>A p.E222K Substitution - Missense Oesophagus COSM1232748 WHSC1L1 c.736G>T p.E246* Substitution - Nonsense Large_intestine COSM1204473 DPF1 c.248G>T p.R83I Substitution - Missense Large_intestine COSM1168959 DIDO1 c.500G>A p.R167H Substitution - Missense Pancreas COSM1166392 PYGO2 c.1066C>T p.R356C Substitution - Missense Large_intestine COSM1161911 KDM5C c.4219delG p.D1407fs*5 Deletion - Frameshift Kidney COSM1158362 NCOA6 c.2830G>A p.D944N Substitution - Missense Pancreas COSM1318927 DNMT3A c.1543C>T p.Q515* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1379104 PRMT7 c.663C>T p.G221G Substitution - coding silent Large_intestine COSM1406089 SP110 c.1308A>G p.S436S Substitution - coding silent Large_intestine COSM1423644 DHX30 c.2230G>A p.V744M Substitution - Missense Adrenal_gland COSM1442449 HDGFL1 c.273C>T p.S91S Substitution - coding silent Large_intestine COSM1357567 TRIM66 c.2115C>T p.S705S Substitution - coding silent Large_intestine COSM1361683 ARID2 c.1277C>T p.T426M Substitution - Missense Large_intestine COSM1476339 EP400 c.2580_2582delAGA p.E862delE Deletion - In frame Breast COSM1675426 BTAF1 c.5215C>T p.R1739W Substitution - Missense Large_intestine COSM1675574 TDRD1 c.1063G>T p.E355* Substitution - Nonsense Large_intestine COSM1716646 ATRX c.2169_2170delGA p.E723fs*9 Deletion - Frameshift Central_nervous_system COSM1663671 PRDM13 c.1652C>T p.A551V Substitution - Missense Kidney COSM1752419 SP100 c.741C>T p.S247S Substitution - coding silent Urinary_tract COSM1724607 PHF6 c.585+6_585+7insA p.? Unknown Skin COSM2068793 HDAC7 c.1112C>T p.P371L Substitution - Missense Cervix COSM2156154 INO80C c.261C>T p.N87N Substitution - coding silent Central_nervous_system COSM2098405 CHD4 c.4047C>A p.S1349S Substitution - coding silent Upper_aerodigestive_tract COSM2854250 PBRM1 c.39C>T p.S13S Substitution - coding silent Large_intestine COSM2931138 DIDO1 c.3561G>A p.P1187P Substitution - coding silent Stomach COSM3035776 SCML2 c.1938G>A p.Q646Q Substitution - coding silent Skin COSM3066661 SETMAR c.362T>A p.L121Q Substitution - Missense Large_intestine COSM3401718 MGA c.8151C>T p.G2717G Substitution - coding silent Central_nervous_system COSM3492904 RERE c.2845C>T p.P949S Substitution - Missense Skin COSM3474771 PYGO2 c.702C>T p.L234L Substitution - coding silent Skin COSM3621304 SHPRH c.1497C>T p.I499I Substitution - coding silent Skin COSM3545297 DNMT3B c.421C>T p.P141S Substitution - Missense Skin COSM3660652 PHF7 c.838G>A p.G280R Substitution - Missense Skin COSM3656870 TAF1L c.1004C>T p.P335L Substitution - Missense Skin COSM3655141 GTF3C4 c.435C>T p.F145F Substitution - coding silent Skin COSM3763733 BRD3 c.1284C>T p.P428P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3775596 PRMT10 c.1648C>G p.P550A Substitution - Missense Urinary_tract COSM3879563 KMT2C c.7489C>T p.R2497C Substitution - Missense Stomach COSM3945597 PBRM1 c.1069G>A p.E357K Substitution - Missense Lung COSM4031164 EYA3 c.1289A>C p.K430T Substitution - Missense Stomach COSM4021561 PRDM2 c.4235T>C p.M1412T Substitution - Missense Stomach COSM4034561 PHRF1 c.3789C>T p.S1263S Substitution - coding silent Bone COSM3984771 LBR c.1250C>G p.S417C Substitution - Missense Kidney COSM4110130 SMC1A c.459T>C p.A153A Substitution - coding silent Stomach COSM4096118 KDM3A c.735C>T p.H245H Substitution - coding silent Stomach COSM4128245 HDAC4 c.1675A>T p.K559* Substitution - Nonsense Ovary COSM4165548 KAT6B c.1733C>A p.S578Y Substitution - Missense Kidney COSM4383784 TET2 c.1164delT p.K389fs*38 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4414589 MLL5 c.3876G>T p.P1292P Substitution - coding silent Kidney COSM4535114 SP140_ENST00000392045 c.2157G>A p.P719P Substitution - coding silent Skin COSM4560814 TRRAP c.8545G>A p.E2849K Substitution - Missense Skin COSM4572668 SUZ12 c.825T>A p.D275E Substitution - Missense Skin COSM4585866 NIPBL c.8113G>A p.V2705I Substitution - Missense Bone COSM4411278 PRDM13 c.211A>T p.I71F Substitution - Missense Kidney COSM4731981 TAF1L c.3827G>C p.R1276P Substitution - Missense Large_intestine COSM4725150 SETD2 c.4713A>G p.K1571K Substitution - coding silent Large_intestine COSM4713923 PHF12 c.970C>T p.L324L Substitution - coding silent Large_intestine COSM4609356 TRRAP c.9894G>T p.W3298C Substitution - Missense Adrenal_gland COSM4611655 HDAC2 c.33delA p.V12fs*20 Deletion - Frameshift Large_intestine COSM4611796 BRD1 c.1295delA p.K432fs*26 Deletion - Frameshift Large_intestine COSM4749258 KIAA2026_ENST00000399933 c.686G>A p.R229H Substitution - Missense Stomach COSM4757067 TAF1 c.2245C>T p.R749C Substitution - Missense Stomach COSM4788838 EYA3 c.756G>T p.Q252H Substitution - Missense Liver COSM4883440 SMYD4 c.257G>C p.G86A Substitution - Missense Upper_aerodigestive_tract COSM4919409 ERCC6 c.1012A>T p.R338W Substitution - Missense Liver COSM4915588 SMARCA5 c.2458A>G p.I820V Substitution - Missense Liver COSM4840946 ASH1L c.6762T>G p.D2254E Substitution - Missense Cervix COSM4848419 BAG6 c.3289C>T p.R1097W Substitution - Missense Cervix COSM4878917 RAI1 c.2182T>C p.C728R Substitution - Missense Prostate COSM4824021 PRDM2 c.1144C>T p.H382Y Substitution - Missense Cervix COSM4965656 CLOCK c.159C>T p.L53L Substitution - coding silent Pancreas COSM4984989 HNF1A c.1460G>A p.S487N Substitution - Missense Liver COSM5410985 TAF1L c.1308T>C p.D436D Substitution - coding silent Skin COSM5353399 ARID1A c.1153G>T p.D385Y Substitution - Missense Large_intestine COSM5484074 RAI1 c.975C>T p.D325D Substitution - coding silent Large_intestine COSM5476906 RBBP7 c.1262A>C p.E421A Substitution - Missense Large_intestine COSM5470534 FTO c.279G>A p.P93P Substitution - coding silent Large_intestine COSM5422267 CHD1 c.373-3C>G p.? Unknown Prostate COSM5424162 SMC1A c.3391G>A p.G1131R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5574492 CHD6 c.409_410insCCG p.K137>TE Complex - insertion inframe Haematopoietic_and_lymphoid_tissue COSM5623547 KMT2C c.13432C>A p.R4478R Substitution - coding silent Oesophagus COSM5748960 ZMYM3 c.2206C>T p.R736C Substitution - Missense Pancreas COSM5606947 PRDM15 c.3124C>T p.H1042Y Substitution - Missense Skin COSM5588725 PRDM8 c.738A>G p.P246P Substitution - coding silent Skin COSM5621803 SETD1A c.4011G>T p.E1337D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5600203 PHIP c.5235G>A p.K1745K Substitution - coding silent Skin COSM5584110 SP140 c.366C>T p.A122A Substitution - coding silent Skin COSM5677910 PRDM1 c.2249C>G p.S750C Substitution - Missense Soft_tissue COSM5687577 MBD2 c.252G>T p.R84R Substitution - coding silent Soft_tissue COSM5762836 ASXL1 c.4072C>G p.P1358A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5556120 PHF15 c.262G>T p.G88C Substitution - Missense Prostate COSM5558220 PHF14 c.1923G>C p.K641N Substitution - Missense Prostate COSM5829022 NCOA6 c.2793-11_2793-3delTTTTTTTTT p.? Unknown Large_intestine COSM5806815 ASH1L c.3448G>T p.A1150S Substitution - Missense Liver COSM5807535 ARID1A c.3164A>G p.Y1055C Substitution - Missense Liver COSM5951516 MBD5 c.4189A>G p.T1397A Substitution - Missense Oesophagus COSM5997378 TRRAP c.8402T>C p.L2801P Substitution - Missense Prostate COSM6003117 BPTF c.5537G>T p.G1846V Substitution - Missense Prostate COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52818 PBRM1 c.2386delG p.E796fs*9 Deletion - Frameshift Kidney COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4172509 MSH6 c.? p.R1068* Substitution - Nonsense Skin COSM1714702 SCML2 c.1714G>A p.D572N Substitution - Missense Skin COSM3691120 PRMT7 c.1915T>C p.C639R Substitution - Missense Large_intestine COSM1245442 ARID1A c.1951_1952insT p.M651fs*25 Insertion - Frameshift Oesophagus COSM1100831 CHD7 c.5114C>T p.P1705L Substitution - Missense Endometrium COSM5934399 RAD54L c.370C>T p.P124S Substitution - Missense Skin COSM22586 MEN1 c.1604C>T p.A535V Substitution - Missense Pancreas COSM5836029 TAF1 c.5045delA p.K1683fs*3 Deletion - Frameshift Breast COSM5503074 JARID2 c.1917C>A p.G639G Substitution - coding silent Biliary_tract COSM748345 TRRAP c.3004A>G p.I1002V Substitution - Missense Lung COSM1099531 ASH2L c.231A>T p.E77D Substitution - Missense Endometrium COSM4510960 MGA c.8677C>T p.L2893L Substitution - coding silent Skin COSM4736775 TRRAP c.5317G>A p.E1773K Substitution - Missense Large_intestine COSM5807297 RBBP5 c.910C>T p.H304Y Substitution - Missense Liver COSM4459657 SMARCC1 c.1134C>T p.P378P Substitution - coding silent Skin COSM23151 MEN1 c.402delC p.F134fs*51 Deletion - Frameshift Gastrointestinal_tract_(site_indeterminate) COSM376614 EP400 c.4125T>A p.S1375S Substitution - coding silent Lung COSM121200 KMT2C c.7236C>A p.P2412P Substitution - coding silent Upper_aerodigestive_tract COSM3517749 EZH1 c.1729G>A p.A577T Substitution - Missense Skin COSM5045532 CHD2 c.11A>G p.N4S Substitution - Missense Oesophagus COSM438124 SETBP1 c.4356G>C p.K1452N Substitution - Missense Breast COSM3900237 MYST3 c.4742G>A p.S1581N Substitution - Missense Stomach COSM5769692 SMARCA2 c.1111G>T p.D371Y Substitution - Missense Breast COSM5643373 ASXL3 c.2688T>C p.S896S Substitution - coding silent Oesophagus COSM920096 SFMBT2 c.862G>T p.V288L Substitution - Missense Endometrium COSM1399854 EPC2 c.200delA p.E70fs*39 Deletion - Frameshift Large_intestine COSM5020474 EZH2 c.2110+6T>G p.? Unknown Soft_tissue COSM3670287 ZMYM3 c.1648C>T p.R550C Substitution - Missense Large_intestine COSM1125083 HDAC8 c.1057C>T p.R353W Substitution - Missense Endometrium COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM998 SMARCB1 c.1121G>A p.R374Q Substitution - Missense Pancreas COSM5047563 ATRX c.4441C>T p.R1481W Substitution - Missense Oesophagus COSM5486260 PHF21B c.411C>T p.A137A Substitution - coding silent Large_intestine COSM3672050 TP53BP1 c.4038C>A p.P1346P Substitution - coding silent Prostate COSM4765101 ARID1A c.1379_1380insGC p.S460fs*160 Insertion - Frameshift Stomach COSM4422015 SUV420H1 c.1493G>C p.G498A Substitution - Missense Pleura COSM246767 PRDM9 c.338G>A p.R113H Substitution - Missense Large_intestine COSM110563 KIAA1045 c.1106G>A p.R369K Substitution - Missense Skin COSM149207 DIDO1 c.1666G>A p.A556T Substitution - Missense Stomach COSM4806058 HELLS c.1999G>T p.V667L Substitution - Missense Liver COSM3523281 CHD3 c.3340C>T p.L1114L Substitution - coding silent Skin COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5055712 BPTF c.2160G>A p.G720G Substitution - coding silent Stomach COSM275660 KDM5A c.4150G>A p.E1384K Substitution - Missense Lung COSM5425966 ALKBH3 c.490C>T p.R164C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM745375 JHDM1D c.796G>A p.V266I Substitution - Missense Lung COSM4643712 KDM5A c.2765T>C p.M922T Substitution - Missense Large_intestine COSM4824823 EP300 c.952C>G p.P318A Substitution - Missense Cervix COSM4015126 JMJD1C c.1463A>C p.K488T Substitution - Missense Stomach COSM5002096 MBD4 c.1702G>C p.D568H Substitution - Missense Pancreas COSM5600286 PRMT10 c.743G>A p.R248K Substitution - Missense Skin COSM282891 MSL3 c.542A>C p.K181T Substitution - Missense Large_intestine COSM1454649 ATAD2 c.1590_1591insT p.D531fs*1 Insertion - Frameshift Pancreas COSM1189760 MBD3 c.192C>A p.F64L Substitution - Missense Lung COSM6012489 EYA4 c.1566A>C p.T522T Substitution - coding silent Skin COSM249498 KMT2C c.460A>T p.R154* Substitution - Nonsense Kidney COSM3805231 SCMH1 c.728C>T p.S243F Substitution - Missense Breast COSM1443747 RING1 c.511delG p.E173fs*14 Deletion - Frameshift Large_intestine COSM5945312 IDH2 c.518A>T p.H173L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1487811 TDRD6 c.4751A>T p.Y1584F Substitution - Missense Breast COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5521190 KDM6A c.811C>T p.Q271* Substitution - Nonsense Biliary_tract COSM5479604 ZCWPW1 c.818A>T p.N273I Substitution - Missense Large_intestine COSM4506490 KDM2A c.721C>T p.L241L Substitution - coding silent Skin COSM1716581 BAP1 c.376-?_1116+?del p.? Unknown Pleura COSM3814731 BAZ1A c.141C>T p.C47C Substitution - coding silent Breast COSM3341163 NSD1 c.4774A>G p.T1592A Substitution - Missense Large_intestine COSM226848 DIDO1 c.5500C>T p.P1834S Substitution - Missense Skin COSM4960835 TAF1L c.3182G>A p.G1061E Substitution - Missense Liver COSM3715434 JARID2 c.1655C>T p.A552V Substitution - Missense Upper_aerodigestive_tract COSM3774230 BAG6 c.1855T>C p.S619P Substitution - Missense Soft_tissue COSM4951676 KDM5C c.4250A>G p.H1417R Substitution - Missense Liver COSM4620408 BAZ2B c.1262G>T p.S421I Substitution - Missense Large_intestine COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4529327 TDRD3 c.1322G>A p.G441E Substitution - Missense Skin COSM972490 CTCF c.1342C>T p.R448* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1469185 ZMYM3 c.252delG p.L85fs*28 Deletion - Frameshift Prostate COSM20664 TRRAP c.2677C>T p.R893C Substitution - Missense Ovary COSM1030951 PRDM15 c.506G>T p.S169I Substitution - Missense Endometrium COSM3437328 EPC1 c.1058C>T p.P353L Substitution - Missense Skin COSM4162024 KMT2C c.946A>T p.T316S Substitution - Missense Upper_aerodigestive_tract COSM5403281 PRDM9 c.139G>A p.E47K Substitution - Missense Skin COSM5342144 HDAC7 c.983G>A p.G328E Substitution - Missense Large_intestine COSM1753989 BRD8 c.671C>T p.S224F Substitution - Missense Thyroid COSM3835815 SUV420H2 c.655G>A p.E219K Substitution - Missense Breast COSM4806399 ASXL1 c.115G>C p.E39Q Substitution - Missense Liver COSM373099 HDAC10 c.1009C>G p.Q337E Substitution - Missense Lung COSM5592791 PYGO2 c.873C>T p.F291F Substitution - coding silent Skin COSM305642 KMT2C c.4114C>A p.L1372I Substitution - Missense Soft_tissue COSM3472824 PRDM2 c.2781C>T p.L927L Substitution - coding silent Skin COSM1622216 PHF14 c.2532+9delA p.? Unknown Liver COSM5385929 PHF12 c.2922C>T p.G974G Substitution - coding silent Upper_aerodigestive_tract COSM262329 NCOA2 c.1756T>C p.F586L Substitution - Missense Large_intestine COSM3812602 BAZ2A c.4103G>T p.C1368F Substitution - Missense Breast COSM257805 PRDM9 c.1387T>G p.L463V Substitution - Missense Large_intestine COSM3698323 HDAC9 c.22G>T p.V8L Substitution - Missense Large_intestine COSM5350421 CHD3 c.2398T>A p.W800R Substitution - Missense Lung COSM5748260 CBX6 c.967G>A p.A323T Substitution - Missense Pancreas COSM377524 ASXL3 c.164C>T p.P55L Substitution - Missense Breast COSM4387456 BAP1 c.659+1G>A p.? Unknown Eye COSM4503099 PRMT7 c.630C>T p.I210I Substitution - coding silent Skin COSM1129548 EPC2 c.1145T>G p.L382W Substitution - Missense Prostate COSM4991482 SMARCB1 c.298C>T p.L100L Substitution - coding silent Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM919503 JMJD1C c.1489G>A p.D497N Substitution - Missense Endometrium COSM43481 TET2 c.3717_3718insT p.L1240fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM211614 TET2 c.2710C>T p.Q904* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1084042 PHF14 c.820A>G p.K274E Substitution - Missense Endometrium COSM4151478 NCOR1 c.1727A>G p.N576S Substitution - Missense Kidney COSM211714 TET2 c.3686T>G p.L1229R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5346955 ARID1A c.3904_3905insCTGGGGCC p.P1305fs*179 Insertion - Frameshift Endometrium COSM4513859 TAF1 c.890C>T p.A297V Substitution - Missense Skin COSM4092243 SP110 c.916C>T p.H306Y Substitution - Missense Stomach COSM1306524 SP140_ENST00000392045 c.928G>A p.E310K Substitution - Missense Urinary_tract COSM3489634 SCMH1 c.1739C>T p.S580F Substitution - Missense Skin COSM3398773 KMT2D c.8113C>T p.R2705C Substitution - Missense Central_nervous_system COSM3300247 BAZ2B c.4387C>T p.P1463S Substitution - Missense Lung COSM1111306 PHF2 c.2682G>T p.K894N Substitution - Missense Endometrium COSM292328 PHF8 c.1279G>A p.V427I Substitution - Missense Large_intestine COSM309433 BAG6 c.588G>T p.P196P Substitution - coding silent Lung COSM1311130 NIPBL c.8352G>A p.L2784L Substitution - coding silent Urinary_tract COSM5738956 KAT6B c.280G>A p.G94R Substitution - Missense Small_intestine COSM3665396 SETDB1 c.2086_2095del10 p.E696fs*48 Deletion - Frameshift Liver COSM5376382 ING1 c.112C>T p.R38W Substitution - Missense Skin COSM5655177 ATRX c.7248G>T p.Q2416H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5644523 PHRF1 c.1A>G p.M1V Substitution - Missense Oesophagus COSM4404628 BRDT c.2671G>A p.E891K Substitution - Missense Skin COSM3957058 IDH2 c.526G>T p.G176C Substitution - Missense Lung COSM3767606 BRPF1 c.2956C>A p.P986T Substitution - Missense Liver COSM117558 HDAC7 c.2422G>A p.A808T Substitution - Missense Ovary COSM1617678 SETD2 c.3377A>G p.H1126R Substitution - Missense Liver COSM2992784 SETD6 c.700G>A p.A234T Substitution - Missense Large_intestine COSM1450086 STK31 c.2761-1G>A p.? Unknown Skin COSM1205887 EYA4 c.1885G>A p.A629T Substitution - Missense Large_intestine COSM4003461 NSD1 c.6829T>C p.L2277L Substitution - coding silent Soft_tissue COSM5473962 CBX4 c.1262G>A p.R421H Substitution - Missense Large_intestine COSM3946021 SMARCA5 c.594C>A p.G198G Substitution - coding silent Lung COSM168089 KMT2D c.6251delC p.P2084fs*30 Deletion - Frameshift Large_intestine COSM29493 SMARCB1 c.796_1158del363 p.L266_*386del Deletion - In frame Soft_tissue COSM4147112 KMT2D c.1335G>A p.E445E Substitution - coding silent Thyroid COSM221058 KMT2D c.7501C>T p.R2501* Substitution - Nonsense Oesophagus COSM1658954 SMARCA2 c.2564G>A p.R855Q Substitution - Missense Large_intestine COSM4544036 MYST3 c.3489G>A p.W1163* Substitution - Nonsense Skin COSM249184 BAP1 c.1358_1359delAA p.K453fs*15 Deletion - Frameshift Kidney COSM3701867 HDAC6 c.2902G>T p.E968* Substitution - Nonsense Liver COSM740721 SHPRH c.4606C>G p.L1536V Substitution - Missense Lung COSM3458552 ATF7IP c.2946C>T p.P982P Substitution - coding silent Skin COSM3874519 TDRD6 c.1543A>G p.K515E Substitution - Missense Stomach COSM472554 SUZ12 c.1430A>C p.N477T Substitution - Missense Kidney COSM2116355 PRMT6 c.102C>T p.T34T Substitution - coding silent Large_intestine COSM2244290 RERE c.452delC p.P151fs*23 Deletion - Frameshift Large_intestine COSM4104431 EP300 c.1528+2T>C p.? Unknown Stomach COSM88784 EP300 c.4879C>T p.R1627W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4819091 KDM4C c.2475C>T p.I825I Substitution - coding silent Cervix COSM2732586 PHF2 c.741C>T p.D247D Substitution - coding silent Central_nervous_system COSM25219 CHD9 c.7922A>C p.K2641T Substitution - Missense Lung COSM3792393 ATF7IP c.1732G>A p.E578K Substitution - Missense Urinary_tract COSM3992537 SMC1A c.495G>C p.A165A Substitution - coding silent Kidney COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3720102 BRD9 c.678+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM428130 BTAF1 c.3913C>G p.L1305V Substitution - Missense Breast COSM1423640 DHX30 c.1329C>T p.I443I Substitution - coding silent Large_intestine COSM4100476 ZGPAT c.193G>A p.A65T Substitution - Missense Stomach COSM4802409 SRCAP c.8848A>G p.I2950V Substitution - Missense Liver COSM5019178 CREBBP c.7212A>G p.E2404E Substitution - coding silent Soft_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM948241 TDRD3 c.1843G>A p.E615K Substitution - Missense Endometrium COSM5672016 PRDM10 c.1371C>A p.T457T Substitution - coding silent Soft_tissue COSM4615500 ATF7IP c.2314delC p.Q773fs*11 Deletion - Frameshift Large_intestine COSM5997037 PHF3 c.1588C>T p.R530* Substitution - Nonsense Prostate COSM220674 KMT2D c.7678C>T p.R2560* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5906961 MGA c.8029C>T p.L2677F Substitution - Missense Skin COSM278226 ZMYND8 c.2194G>A p.E732K Substitution - Missense Stomach COSM3656838 TAF1L c.4204G>A p.V1402M Substitution - Missense Skin COSM5879680 ASXL1 c.4233G>A p.W1411* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3381814 TRIM24 c.1413G>C p.Q471H Substitution - Missense Pancreas COSM4046338 ZMYM5 c.179T>A p.V60D Substitution - Missense Stomach COSM4049835 CHD8 c.6816G>A p.A2272A Substitution - coding silent Stomach COSM5027252 KAT6B c.2924C>T p.S975F Substitution - Missense Breast COSM4163285 PHF19 c.407A>C p.D136A Substitution - Missense Upper_aerodigestive_tract COSM53136 TET2 c.? p.I1195V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34090 IDH2 c.516G>T p.R172S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1666935 TET2 c.? p.A304V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4002747 PBRM1 c.3597A>T p.P1199P Substitution - coding silent Soft_tissue COSM258257 TRRAP c.629G>A p.R210Q Substitution - Missense Liver COSM318185 TRRAP c.7938G>A p.Q2646Q Substitution - coding silent Soft_tissue COSM84432 ASXL3 c.1279T>C p.S427P Substitution - Missense Pancreas COSM4485218 SRCAP c.2909C>T p.S970F Substitution - Missense Skin COSM3378086 NCOR1 c.2249C>T p.A750V Substitution - Missense Pancreas COSM1342109 ZMYM6 c.292delA p.M98fs*49 Deletion - Frameshift Large_intestine COSM5353835 EPC2 c.440delA p.A149fs*7 Deletion - Frameshift Large_intestine COSM5708605 TBL1XR1 c.421delA p.I141fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4988649 MSH6 c.431G>T p.S144I Substitution - Missense Soft_tissue COSM453344 BAZ1B c.2584G>A p.E862K Substitution - Missense Breast COSM3841911 BRWD1 c.6592A>G p.I2198V Substitution - Missense Breast COSM1756980 SMARCA4 c.1926G>C p.W642C Substitution - Missense Urinary_tract COSM3558878 FMR1 c.1160C>T p.S387F Substitution - Missense Skin COSM3420941 SRCAP c.3194G>A p.R1065Q Substitution - Missense Large_intestine COSM1301956 CREBBP c.4617T>G p.Y1539* Substitution - Nonsense Urinary_tract COSM1416758 PHF21B c.480C>T p.A160A Substitution - coding silent Skin COSM391793 SMEK1 c.370_372delGAT p.D124delD Deletion - In frame Lung COSM2145472 ERCC6 c.1596T>C p.D532D Substitution - coding silent Upper_aerodigestive_tract COSM3660915 PRMT10 c.1034C>T p.T345I Substitution - Missense Liver COSM1414222 PRDM15 c.2272C>T p.R758C Substitution - Missense Large_intestine COSM4054563 MGA c.4505G>T p.R1502M Substitution - Missense Stomach COSM4849111 NSD1 c.1874G>C p.G625A Substitution - Missense Cervix COSM40346 MTA1 c.1105G>A p.V369I Substitution - Missense Central_nervous_system COSM110722 BAP1 c.1768C>T p.Q590* Substitution - Nonsense Skin COSM1211252 JARID2 c.2197C>T p.R733C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1067071 PRDM9 c.835C>T p.R279* Substitution - Nonsense Endometrium COSM255213 MEN1 c.1621A>G p.T541A Substitution - Missense Soft_tissue COSM1742796 ARID1A c.2445T>G p.Y815* Substitution - Nonsense Biliary_tract COSM724743 ZGPAT c.525G>A p.K175K Substitution - coding silent Lung COSM48859 BAP1 c.1153C>T p.R385* Substitution - Nonsense Stomach COSM353217 DHX30 c.520C>T p.R174* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41877 IDH2 c.418C>T p.R140W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1021285 MSH6 c.2876G>A p.R959H Substitution - Missense Endometrium COSM1423564 SETD2 c.2705A>C p.K902T Substitution - Missense Large_intestine COSM267409 SFMBT2 c.2097C>T p.F699F Substitution - coding silent Large_intestine COSM256618 CHD9 c.5393A>G p.N1798S Substitution - Missense Large_intestine COSM3760096 SETMAR c.272G>A p.R91H Substitution - Missense Large_intestine COSM3097798 BRWD3 c.5305G>A p.V1769M Substitution - Missense Large_intestine COSM4107967 HCFC1 c.3675C>T p.C1225C Substitution - coding silent Stomach COSM1041559 ACTL6A c.794C>T p.S265L Substitution - Missense Endometrium COSM28783 KDM6A c.2090delA p.N697fs*18 Deletion - Frameshift Kidney COSM132983 ASXL1 c.? p.N842fs*2 Frameshift Haematopoietic_and_lymphoid_tissue COSM5801266 DMAP1 c.1315_1317delGTG p.V440delV Deletion - In frame Breast COSM97131 IDH1 c.532G>A p.V178I Substitution - Missense Thyroid COSM1180918 ASXL1 c.1927delG p.G645fs*58 Deletion - Frameshift Large_intestine COSM4761777 BRD3 c.950G>A p.S317N Substitution - Missense Stomach COSM37029 EZH2 c.1937A>C p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4000327 CBX4 c.871T>C p.S291P Substitution - Missense Soft_tissue COSM233236 RBBP7 c.592G>A p.D198N Substitution - Missense Skin COSM4998710 ZMYM1 c.3247A>G p.T1083A Substitution - Missense Pancreas COSM1030937 PRDM15 c.3615C>T p.Y1205Y Substitution - coding silent Endometrium COSM5512425 MLL5 c.4004C>T p.T1335M Substitution - Missense Biliary_tract COSM4788516 TDRD3 c.1664T>G p.M555R Substitution - Missense Liver COSM1488393 KMT2C c.5377C>T p.L1793F Substitution - Missense Breast COSM366201 GTF3C1 c.2659C>G p.R887G Substitution - Missense Lung COSM1244702 AICDA c.355C>T p.R119C Substitution - Missense Oesophagus COSM1411831 CHD6 c.6255_6256delCT p.Y2086fs*4 Deletion - Frameshift Large_intestine COSM4250928 MGA c.4972A>G p.T1658A Substitution - Missense Prostate COSM3986969 KMT2D c.8168T>G p.L2723R Substitution - Missense Kidney COSM258571 MBD6 c.2247_2248delTT p.S750fs*42 Deletion - Frameshift Large_intestine COSM2064491 HCFC2 c.1999_2000insG p.I667fs*3 Insertion - Frameshift Upper_aerodigestive_tract COSM920520 KAT6B c.510G>A p.P170P Substitution - coding silent Endometrium COSM3386088 HDAC1 c.809G>A p.R270Q Substitution - Missense Pancreas COSM5681950 BRWD1 c.6149C>A p.T2050K Substitution - Missense Soft_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3568268 BAZ2B c.1979A>G p.D660G Substitution - Missense Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4623771 SETBP1 c.584C>T p.T195M Substitution - Missense Large_intestine COSM1041557 ACTL6A c.716G>T p.R239I Substitution - Missense Endometrium COSM1377474 SRCAP c.5625_5626insC p.P1879fs*21 Insertion - Frameshift Large_intestine COSM1495696 TET2 c.1660C>T p.P554S Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1611237 SETBP1 c.3702G>T p.L1234L Substitution - coding silent Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM211715 TET2 c.3621G>T p.E1207D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4400192 SP140_ENST00000392045 c.2143G>A p.D715N Substitution - Missense Skin COSM4987227 RAI1 c.1299G>C p.Q433H Substitution - Missense Soft_tissue COSM88813 TET2 c.? p.I1226fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM22594 MEN1 c.758C>T p.S253L Substitution - Missense Parathyroid COSM5153054 TAF1L c.5473G>T p.G1825* Substitution - Nonsense Soft_tissue COSM1479304 RAI1 c.832_834delCAG p.Q291delQ Deletion - In frame Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1009 SMARCB1 c.897G>A p.S299S Substitution - coding silent Soft_tissue COSM1685371 SETBP1 c.? p.D874N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3406471 SMC1A c.1180G>A p.E394K Substitution - Missense Central_nervous_system COSM308640 BRD8 c.532_533insC p.R178fs*20 Insertion - Frameshift Large_intestine COSM3794908 CHD9 c.7475A>G p.N2492S Substitution - Missense Urinary_tract COSM4054570 MGA c.5539A>G p.M1847V Substitution - Missense Stomach COSM33732 IDH2 c.515G>T p.R172M Substitution - Missense Central_nervous_system COSM5662907 TDRD6 c.4348G>C p.E1450Q Substitution - Missense Soft_tissue COSM3362641 SMARCA4 c.4113C>A p.S1371S Substitution - coding silent Kidney COSM3142387 PRDM13 c.597C>T p.F199F Substitution - coding silent Large_intestine COSM5599298 CHD6 c.7853C>T p.S2618F Substitution - Missense Skin COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Biliary_tract COSM908431 PHC2 c.210G>A p.T70T Substitution - coding silent Lung COSM3827918 PRDM9 c.713C>T p.S238L Substitution - Missense Breast COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM3424982 BRWD3 c.4170T>G p.F1390L Substitution - Missense Large_intestine COSM1081841 PHIP c.4901T>G p.L1634R Substitution - Missense Endometrium COSM3528425 SMARCA4 c.2354A>G p.K785R Substitution - Missense Skin COSM390937 EZH2 c.2159C>T p.A720V Substitution - Missense Lung COSM4060708 CREBBP c.4412T>A p.I1471N Substitution - Missense Stomach COSM3174171 EYA4 c.1776T>A p.F592L Substitution - Missense Large_intestine COSM2157012 MECOM c.2585G>A p.R862K Substitution - Missense Central_nervous_system COSM3765162 KDM3B c.4503-1G>A p.? Unknown Central_nervous_system COSM1286136 MECOM c.2285G>T p.R762I Substitution - Missense Autonomic_ganglia COSM3913517 FMR1 c.1499C>T p.S500F Substitution - Missense Skin COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM34039 IDH2 c.514A>T p.R172W Substitution - Missense Biliary_tract COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM36622 PHF21B c.1273+5G>A p.? Unknown Skin COSM84490 SMARCA4 c.3586C>T p.Q1196* Substitution - Nonsense Pancreas COSM85819 ATRX c.5620C>T p.Q1874* Substitution - Nonsense Pancreas COSM86993 IDH1 c.395_396GT>AC p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM122020 TDG c.387C>A p.T129T Substitution - coding silent Upper_aerodigestive_tract COSM129645 TDRD6 c.2791A>C p.N931H Substitution - Missense Upper_aerodigestive_tract COSM133732 DNMT3A c.2312G>A p.R771Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM233456 SMYD4 c.1597C>T p.P533S Substitution - Missense Skin COSM245962 NCOA1 c.1355A>G p.N452S Substitution - Missense Prostate COSM248872 ATRX c.1256C>T p.A419V Substitution - Missense Pancreas COSM274118 BAZ1B c.4020G>A p.R1340R Substitution - coding silent Large_intestine COSM294607 NCOA3 c.977G>A p.G326D Substitution - Missense Large_intestine COSM316131 TIF1 c.2458G>C p.V820L Substitution - Missense Lung COSM327313 PHF6 c.346C>T p.R116* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM368297 NCOR1 c.2622G>T p.Q874H Substitution - Missense Lung COSM388252 TAF1 c.3126G>T p.G1042G Substitution - coding silent Lung COSM379443 SMARCD3 c.669C>T p.D223D Substitution - coding silent Lung COSM379400 EYA4 c.876G>A p.A292A Substitution - coding silent Endometrium COSM52852 PBRM1 c.307delA p.M103fs*10 Deletion - Frameshift Kidney COSM987425 AP001011.3_ENST00000320876 c.4651A>G p.T1551A Substitution - Missense Endometrium COSM1048022 ATXN7 c.1508C>A p.S503Y Substitution - Missense Endometrium COSM1049124 BRPF1 c.792C>T p.G264G Substitution - coding silent Endometrium COSM1021259 MSH6 c.670G>T p.E224* Substitution - Nonsense Endometrium COSM1030945 PRDM15 c.1635C>T p.H545H Substitution - coding silent Endometrium COSM755436 SMARCA1 c.417T>G p.I139M Substitution - Missense Lung COSM739331 NCOA7 c.785G>T p.G262V Substitution - Missense Lung COSM947863 SETDB2 c.284C>T p.S95F Substitution - Missense Endometrium COSM993339 GATAD2A c.365C>T p.P122L Substitution - Missense Endometrium COSM1602229 PRDM16 c.3689A>C p.K1230T Substitution - Missense Liver COSM1067667 NIPBL c.2681G>A p.R894H Substitution - Missense Endometrium COSM1071554 CHD1 c.732G>A p.E244E Substitution - coding silent Endometrium COSM1106297 GTF3C4 c.1880C>A p.S627Y Substitution - Missense Endometrium COSM1239820 PHF3 c.3693C>A p.S1231S Substitution - coding silent Oesophagus COSM1196368 SETMAR c.1984G>A p.A662T Substitution - Missense Lung COSM1203537 DHX30 c.883C>T p.R295C Substitution - Missense Large_intestine COSM1204290 DNMT1 c.2873G>A p.R958H Substitution - Missense Large_intestine COSM1264294 RING1 c.263G>T p.R88L Substitution - Missense Oesophagus COSM1266786 SRCAP c.9182G>A p.R3061H Substitution - Missense Stomach COSM1211777 KDM5C c.1772G>A p.G591E Substitution - Missense Large_intestine COSM1220386 PHF8 c.2318G>A p.R773H Substitution - Missense Large_intestine COSM1217360 NIPBL c.5216G>A p.S1739N Substitution - Missense Large_intestine COSM1604856 PHRF1 c.3902A>G p.D1301G Substitution - Missense Liver COSM1606947 RNF17 c.237T>C p.A79A Substitution - coding silent Liver COSM1303971 SMARCA4 c.2220G>A p.E740E Substitution - coding silent Oesophagus COSM1377487 SRCAP c.8920delC p.L2975fs*1 Deletion - Frameshift Large_intestine COSM1446062 PHIP c.288A>G p.G96G Substitution - coding silent Large_intestine COSM1440260 NCOA7 c.2320C>T p.P774S Substitution - Missense Large_intestine COSM1614216 IDH1 c.623A>G p.Y208C Substitution - Missense Liver COSM1615522 PHF20 c.2544C>T p.Y848Y Substitution - coding silent Liver COSM1625264 PHF2 c.2899T>G p.S967A Substitution - Missense Liver COSM1581763 SMEK1 c.1564G>A p.D522N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1682623 KDM5C c.2758C>T p.Q920* Substitution - Nonsense Breast COSM1679603 NCOR1 c.4876A>C p.N1626H Substitution - Missense Large_intestine COSM1681729 NCOA5 c.1102C>T p.R368* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1665114 ZMYM4 c.3704T>C p.V1235A Substitution - Missense Kidney COSM1663330 PBRM1 c.3554G>C p.R1185P Substitution - Missense Kidney COSM2740197 RAI1 c.1786C>T p.R596W Substitution - Missense Stomach COSM2783384 ATXN7 c.1174A>G p.K392E Substitution - Missense Large_intestine COSM3059443 RUVBL1 c.1046G>A p.G349D Substitution - Missense Large_intestine COSM3410951 EHMT2 c.2699C>T p.A900V Substitution - Missense Central_nervous_system COSM3398027 MEN1 c.599G>A p.G200D Substitution - Missense Central_nervous_system COSM3479342 TDRD5 c.2700G>A p.V900V Substitution - coding silent Skin COSM3487750 EYA3 c.764C>T p.S255F Substitution - Missense Skin COSM3496568 ARID4A c.2432C>T p.S811L Substitution - Missense Skin COSM3431744 BAZ1B c.605C>G p.P202R Substitution - Missense Large_intestine COSM3420456 PYGO1 c.439A>G p.N147D Substitution - Missense Large_intestine COSM3450517 PHRF1 c.1179C>T p.I393I Substitution - coding silent Skin COSM3447394 PRDM11 c.1016T>C p.F339S Substitution - Missense Skin COSM3562276 KDM5C c.4365G>A p.L1455L Substitution - coding silent Skin COSM3660767 SETD5_ENST00000402198 c.227A>T p.E76V Substitution - Missense Liver COSM3650086 CHD7 c.6923C>T p.S2308L Substitution - Missense Skin COSM3723827 TDRD6 c.288C>T p.V96V Substitution - coding silent Upper_aerodigestive_tract COSM3756112 AP001011.3_ENST00000320876 c.3528A>G p.T1176T Substitution - coding silent Kidney COSM3780993 KMT2D c.4510-2A>G p.? Unknown Pancreas COSM3787409 BPTF c.8762A>C p.*2921S Nonstop extension Pancreas COSM3930675 ACTA1 c.821C>G p.A274G Substitution - Missense Urinary_tract COSM3842770 L3MBTL2 c.1320G>A p.L440L Substitution - coding silent Breast COSM3848239 SMARCA2 c.705G>A p.Q235Q Substitution - coding silent Breast COSM3906584 SMARCA2 c.3763C>T p.R1255W Substitution - Missense Large_intestine COSM3954480 ATF7IP c.3451C>G p.L1151V Substitution - Missense Lung COSM3997485 PHC2 c.1556-7C>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3989262 BPTF c.8444G>T p.R2815L Substitution - Missense Kidney COSM4085899 BAZ2B c.123T>C p.L41L Substitution - coding silent Stomach COSM4111269 BRWD3 c.1907G>A p.G636E Substitution - Missense Stomach COSM4107989 HCFC1 c.644T>C p.L215P Substitution - Missense Stomach COSM4118095 SMARCC1 c.2817C>T p.R939R Substitution - coding silent Stomach COSM4071688 AP001011.3_ENST00000320876 c.533C>G p.P178R Substitution - Missense Stomach COSM4064161 NCOR1 c.3031C>T p.P1011S Substitution - Missense Stomach COSM4075098 MBD3 c.632C>T p.T211M Substitution - Missense Stomach COSM4139031 PRDM1 c.556+8G>T p.? Unknown Ovary COSM4161762 SND1 c.1744A>T p.T582S Substitution - Missense Thyroid COSM4159920 C5orf35 c.625A>G p.K209E Substitution - Missense Upper_aerodigestive_tract COSM4383709 MECOM c.2932C>A p.Q978K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4595917 PRDM11 c.1485G>A p.W495* Substitution - Nonsense Upper_aerodigestive_tract COSM4597491 BRD1 c.3156C>A p.S1052R Substitution - Missense Upper_aerodigestive_tract COSM4414708 KDM1A c.1007G>A p.R336Q Substitution - Missense Kidney COSM4531291 SND1 c.1775G>C p.R592P Substitution - Missense Skin COSM4577767 PRMT5 c.1080A>G p.V360V Substitution - coding silent Bone COSM4579744 HDAC5 c.2315G>A p.S772N Substitution - Missense Bone COSM4518628 NSD1 c.7244_7245CC>TT p.S2415F Substitution - Missense Skin COSM4422920 PRDM10 c.1217_1218insCCGG p.P408fs*19 Insertion - Frameshift Kidney COSM4459989 MBD6 c.1149C>T p.T383T Substitution - coding silent Skin COSM4770139 TBL1XR1 c.909G>T p.Q303H Substitution - Missense Biliary_tract COSM4731982 TAF1L c.3792T>C p.G1264G Substitution - coding silent Large_intestine COSM4710320 ORC1 c.1110T>C p.N370N Substitution - coding silent Large_intestine COSM4609564 DIDO1 c.32A>T p.E11V Substitution - Missense Adrenal_gland COSM4611655 HDAC2 c.33delA p.V12fs*20 Deletion - Frameshift Large_intestine COSM4767348 TET2 c.3406_3409delGTAG p.V1136fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4777696 POGZ c.510_511insG p.I172fs*12 Insertion - Frameshift Prostate COSM4794577 BRD1 c.2516G>A p.G839D Substitution - Missense Liver COSM4909142 KMT2C c.1050G>A p.P350P Substitution - coding silent Thyroid COSM4836654 SETMAR c.1222C>T p.R408W Substitution - Missense Cervix COSM4837097 KMT2C c.13861G>T p.E4621* Substitution - Nonsense Cervix COSM4853760 TAF1 c.3079G>A p.D1027N Substitution - Missense Cervix COSM4828896 EP300 c.2437C>T p.Q813* Substitution - Nonsense Cervix COSM4949470 ARID2 c.3276T>A p.A1092A Substitution - coding silent Liver COSM5000569 SMARCA1 c.2314C>G p.P772A Substitution - Missense Pancreas COSM5359955 TDRD1 c.2957G>A p.R986Q Substitution - Missense Large_intestine COSM5352751 DMAP1 c.905C>T p.P302L Substitution - Missense Large_intestine COSM5353944 BAZ2B c.146-10delT p.? Unknown Biliary_tract COSM5359208 TAF1L c.268G>A p.G90S Substitution - Missense Large_intestine COSM5503692 SIRT3 c.916G>A p.V306M Substitution - Missense Biliary_tract COSM5505014 RAI1 c.4390G>A p.E1464K Substitution - Missense Biliary_tract COSM5517475 MYST1 c.442G>A p.E148K Substitution - Missense Biliary_tract COSM5484549 CAMKMT c.609G>A p.Q203Q Substitution - coding silent Large_intestine COSM5422416 SIRT3 c.983C>T p.A328V Substitution - Missense Prostate COSM5636825 KMT2D c.13410C>T p.V4470V Substitution - coding silent Oesophagus COSM5723996 BRD3 c.640C>T p.P214S Substitution - Missense Skin COSM5720733 PRDM1 c.1513C>T p.P505S Substitution - Missense Skin COSM5722793 UHRF1 c.1536G>A p.Q512Q Substitution - coding silent Skin COSM5719279 RAD54L c.160C>T p.P54S Substitution - Missense Skin COSM5768277 KDM6B c.4584C>T p.S1528S Substitution - coding silent Breast COSM5721817 KMT2A c.4522G>A p.E1508K Substitution - Missense Skin COSM5721858 PRDM10 c.170C>T p.S57F Substitution - Missense Skin COSM5721980 BAZ2A_ENST00000379441 c.695C>T p.T232I Substitution - Missense Skin COSM5600203 PHIP c.5235G>A p.K1745K Substitution - coding silent Skin COSM5606345 BAZ1A c.343C>T p.R115* Substitution - Nonsense Skin COSM5660525 SUV420H2 c.762G>T p.R254R Substitution - coding silent Soft_tissue COSM5708154 DNMT3A c.2608T>C p.F870L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5704134 DPF2 c.1049G>A p.R350H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5611422 BAP1 c.1213G>T p.E405* Substitution - Nonsense Pleura COSM5548934 KAT6B c.5512G>A p.A1838T Substitution - Missense Prostate COSM5799624 CBX2 c.1339G>A p.G447R Substitution - Missense Breast COSM5811436 AKAP1 c.1404C>A p.T468T Substitution - coding silent Liver COSM5809894 ARID2 c.4015C>T p.Q1339* Substitution - Nonsense Liver COSM5944897 DNMT3A c.2450A>T p.E817V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5952889 CDYL2 c.24+4C>G p.? Unknown Oesophagus COSM5928937 JHDM1D c.650C>T p.P217L Substitution - Missense Skin COSM5903769 TAF3 c.1493C>T p.S498F Substitution - Missense Skin COSM5985152 DNMT3A c.1225T>C p.W409R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM5946109 CHD2 c.? p.R550S Substitution - Missense Pituitary COSM5574291 ASXL1 c.? p.G646fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM5574291 ASXL1 c.? p.G646fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM4169638 SETBP1 c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52864 PBRM1 c.2873_2879delACCATGT p.Y958fs*54 Deletion - Frameshift Kidney COSM5753356 PBRM1 c.? p.K553* Substitution - Nonsense Kidney COSM4767390 IDH2 c.? p.A416fs*? Frameshift Large_intestine COSM255138 MEN1 c.? p.Y276* Substitution - Nonsense Parathyroid COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4736781 TRRAP c.6345G>A p.A2115A Substitution - coding silent Large_intestine COSM4692517 INOC1 c.3667C>T p.R1223W Substitution - Missense Large_intestine COSM4457138 TRDMT1 c.1034C>T p.P345L Substitution - Missense Skin COSM5360150 BTAF1 c.4601A>G p.D1534G Substitution - Missense Large_intestine COSM22381 TIF1 c.2769C>T p.S923S Substitution - coding silent Skin COSM1416506 L3MBTL2 c.2113G>A p.D705N Substitution - Missense Large_intestine COSM1495903 BRD8 c.318A>C p.E106D Substitution - Missense Kidney COSM3724494 DNMT3A c.? p.R736C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52879 PBRM1 c.1618A>G p.R540G Substitution - Missense Kidney COSM4383934 TET2 c.4045-2A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4996346 SETD2 c.3808C>T p.R1270C Substitution - Missense Upper_aerodigestive_tract COSM3458243 EP400 c.4459C>T p.P1487S Substitution - Missense Skin COSM1564352 KDM4B c.1322G>A p.G441E Substitution - Missense Large_intestine COSM961987 TP53BP1 c.14G>A p.G5E Substitution - Missense Skin COSM716179 BAZ2B c.1797C>G p.P599P Substitution - coding silent Lung COSM1677493 EP400 c.7139G>A p.R2380H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5588419 NCOA3 c.1587C>A p.I529I Substitution - coding silent Skin COSM423263 PBRM1 c.362_363insA p.N121fs*8 Insertion - Frameshift Kidney COSM5576205 MYST3 c.2842C>T p.R948* Substitution - Nonsense Stomach COSM5733230 CHD4 c.1156G>A p.D386N Substitution - Missense Pancreas COSM230133 KMT2C c.1173C>A p.C391* Substitution - Nonsense Soft_tissue COSM3733522 NCOR1 c.59A>C p.Y20S Substitution - Missense Upper_aerodigestive_tract COSM4605184 CREBBP c.3483C>T p.F1161F Substitution - coding silent Upper_aerodigestive_tract COSM703265 SRCAP c.627G>T p.V209V Substitution - coding silent Lung COSM1622164 MLL5 c.2775T>C p.N925N Substitution - coding silent Liver COSM4069637 ZBTB4 c.276G>A p.S92S Substitution - coding silent Stomach COSM4119258 SFMBT1 c.211A>G p.T71A Substitution - Missense Stomach COSM12939 TRIM33 c.2431G>A p.E811K Substitution - Missense Lung COSM340925 KAT5 c.181C>G p.L61V Substitution - Missense Lung COSM1700240 EYA1 c.1408G>A p.E470K Substitution - Missense Skin COSM4799656 ARID2 c.4923-2A>G p.? Unknown Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1635198 KMT2C c.2185A>G p.N729D Substitution - Missense Upper_aerodigestive_tract COSM5551578 ARID2 c.4055A>G p.D1352G Substitution - Missense Prostate COSM1046998 BAP1 c.93G>T p.E31D Substitution - Missense Endometrium COSM1578501 MYST1 c.1110_1111AG>GC p.E371Q Substitution - Missense Lung COSM376218 LBR c.1719A>T p.I573I Substitution - coding silent Lung COSM4120730 BRPF1 c.933T>C p.P311P Substitution - coding silent Stomach COSM4513986 PBRM1 c.958C>T p.L320F Substitution - Missense Skin COSM3236970 BRD8 c.1610C>T p.P537L Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM4742919 ZMYM3 c.252_253insG p.L85fs*4 Insertion - Frameshift Breast COSM5484112 HDAC5 c.160C>T p.P54S Substitution - Missense Large_intestine COSM3604589 CLOCK c.946G>A p.D316N Substitution - Missense Skin COSM341239 AIRE c.138G>T p.T46T Substitution - coding silent Lung COSM4968267 ATF2 c.741+1G>C p.? Unknown Adrenal_gland COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3786950 HELLS c.2023C>T p.R675* Substitution - Nonsense Pancreas COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM4531009 BAG6 c.174G>A p.R58R Substitution - coding silent Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM894177 TRIM33 c.2816T>A p.V939D Substitution - Missense Endometrium COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM221079 KMT2D c.3316_3317delAT p.M1106fs*52 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5498934 DAXX c.397G>A p.V133I Substitution - Missense Biliary_tract COSM5990300 PRDM12 c.682+7G>C p.? Unknown Liver COSM5622554 MGA c.2306A>C p.N769T Substitution - Missense Oesophagus COSM133051 EZH2 c.1657C>T p.Q553* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM745589 HDAC9 c.2776C>A p.L926I Substitution - Missense Kidney COSM3650689 NCOA2 c.124G>A p.E42K Substitution - Missense Skin COSM4669568 CBX4 c.1158G>A p.P386P Substitution - coding silent Large_intestine COSM3764845 ATAD2B_ENST00000238789 c.616C>T p.R206* Substitution - Nonsense Central_nervous_system COSM87001 DNMT3A c.2644C>A p.R882S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5768801 ZCWPW1 c.18G>A p.Q6Q Substitution - coding silent Breast COSM1107186 EHMT1 c.3149G>A p.R1050H Substitution - Missense Oesophagus COSM165982 ARID1B c.5632delC p.Q1879fs*77 Deletion - Frameshift Breast COSM2151583 CHD7 c.7470G>A p.S2490S Substitution - coding silent Central_nervous_system COSM1251645 EZH2 c.1012G>C p.E338Q Substitution - Missense Oesophagus COSM4988534 ARID1A c.358C>T p.P120S Substitution - Missense Endometrium COSM5673265 HDAC9 c.3009C>A p.I1003I Substitution - coding silent Soft_tissue COSM3637016 HDAC9 c.1071G>A p.E357E Substitution - coding silent Skin COSM219272 CHD6 c.2029C>G p.P677A Substitution - Missense Breast COSM1026047 NCOA6 c.5982C>A p.A1994A Substitution - coding silent Endometrium COSM5761367 L3MBTL4 c.961G>T p.V321F Substitution - Missense Pancreas COSM1215211 MLL5 c.1913G>A p.S638N Substitution - Missense Large_intestine COSM4094434 MSH6 c.1189T>C p.Y397H Substitution - Missense Stomach COSM3986163 ALKBH3 c.216T>C p.I72I Substitution - coding silent Kidney COSM1608341 RTF1 c.650+4A>G p.? Unknown Liver COSM1161914 KDM5C c.4213G>C p.E1405Q Substitution - Missense Kidney COSM1292022 BRD8 c.3615+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM2854208 PBRM1 c.682A>G p.I228V Substitution - Missense Skin COSM3414702 TDRD1 c.1529T>G p.F510C Substitution - Missense Large_intestine COSM1406111 SP140_ENST00000392045 c.1262A>G p.H421R Substitution - Missense Large_intestine COSM5555469 KDM4B c.1216G>T p.G406C Substitution - Missense Prostate COSM484897 TIF1 c.1559A>C p.N520T Substitution - Missense Oesophagus COSM132884 EZH2 c.2152_2153delAA p.K718fs*12 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1165474 PRDM5 c.1245C>T p.T415T Substitution - coding silent Large_intestine COSM1103 SMARCB1 c.?_?del? p.?del Deletion - In frame Soft_tissue COSM94805 NCOA2 c.2545G>A p.E849K Substitution - Missense Breast COSM4097969 PHF20 c.291G>A p.W97* Substitution - Nonsense Stomach COSM1678374 INOC1 c.3481G>A p.A1161T Substitution - Missense Large_intestine COSM3294975 ZMYND8 c.420A>G p.E140E Substitution - coding silent Upper_aerodigestive_tract COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4519600 RING1 c.1019G>A p.G340E Substitution - Missense Skin COSM3642846 TRRAP c.10999T>C p.L3667L Substitution - coding silent Skin COSM5046254 ARID2 c.2390C>T p.P797L Substitution - Missense Oesophagus COSM3712532 AKAP1 c.314C>G p.S105* Substitution - Nonsense Upper_aerodigestive_tract COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1093539 TRRAP c.88G>A p.D30N Substitution - Missense Endometrium COSM5606646 JHDM1D c.784C>T p.P262S Substitution - Missense Skin COSM5451605 SETD4 c.577A>T p.S193C Substitution - Missense Large_intestine COSM1180697 PYGO2 c.448delC p.Q150fs*11 Deletion - Frameshift Stomach COSM120177 TET2 c.3851C>T p.S1284F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3725371 EYA4 c.579C>T p.Y193Y Substitution - coding silent Oesophagus COSM1319426 SMC1A c.287G>A p.R96H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5346292 ARID2 c.602C>A p.T201N Substitution - Missense Urinary_tract COSM1027541 NCOA3 c.2561G>A p.R854Q Substitution - Missense Endometrium COSM20659 TAF1L c.2553delA p.A852fs*14 Deletion - Frameshift Ovary COSM4526222 KMT2C c.13815G>A p.K4605K Substitution - coding silent Skin COSM72768 SP100 c.406G>A p.D136N Substitution - Missense Large_intestine COSM5973104 KDM4B c.2566C>T p.R856W Substitution - Missense Upper_aerodigestive_tract COSM5019618 DAXX c.1137T>C p.Y379Y Substitution - coding silent Soft_tissue COSM3724768 SMARCC2 c.1810C>T p.Q604* Substitution - Nonsense Lung COSM5781388 KAT2B c.1222G>A p.A408T Substitution - Missense Breast COSM450801 ARID1B c.6232G>T p.V2078L Substitution - Missense Breast COSM3781665 PBRM1 c.3875+1G>A p.? Unknown Pancreas COSM391382 MLL5 c.2557delA p.S854fs*5 Deletion - Frameshift Lung COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4479111 JARID2 c.2297C>T p.P766L Substitution - Missense Skin COSM1756797 CHD4 c.5437C>T p.H1813Y Substitution - Missense Urinary_tract COSM3393521 PRDM9 c.610+7G>T p.? Unknown Pancreas COSM1612839 SUV420H2 c.129G>T p.R43R Substitution - coding silent Liver COSM3819169 PHF12 c.1932G>A p.K644K Substitution - coding silent Breast COSM1220356 PHF2 c.1498C>A p.P500T Substitution - Missense Stomach COSM437708 CBX8 c.950G>T p.G317V Substitution - Missense Thyroid COSM4852877 KDM6A c.2422C>T p.H808Y Substitution - Missense Cervix COSM5346957 ARID1A c.5420_5421insT p.K1808fs*1 Insertion - Frameshift Endometrium COSM5350385 EZH1 c.1978G>A p.D660N Substitution - Missense Lung COSM987899 ASXL3 c.275C>A p.S92Y Substitution - Missense Endometrium COSM5779964 KDM3A c.1168T>A p.C390S Substitution - Missense Breast COSM5569300 CHD3 c.5007A>G p.T1669T Substitution - coding silent Upper_aerodigestive_tract COSM2692756 CDYL2 c.1150G>A p.A384T Substitution - Missense Large_intestine COSM251388 ARID1A c.5770G>AA p.E1924fs Complex Liver COSM5893977 ASXL3 c.2470C>T p.R824* Substitution - Nonsense Skin COSM1084070 PHF14 c.2104G>A p.A702T Substitution - Missense Endometrium COSM3712047 CHD9 c.6951C>T p.P2317P Substitution - coding silent Upper_aerodigestive_tract COSM1465246 ZBTB33 c.563_564insTGA p.D194_V195insD Insertion - In frame Upper_aerodigestive_tract COSM2208054 GATAD2B c.1335G>T p.M445I Substitution - Missense Large_intestine COSM5722618 KAT2A c.265C>T p.Q89* Substitution - Nonsense Skin COSM4110076 KDM5C c.861G>A p.S287S Substitution - coding silent Stomach COSM1114021 ZBTB33 c.450G>T p.Q150H Substitution - Missense Endometrium COSM3826843 KDM3B c.1013G>C p.R338T Substitution - Missense Breast COSM3844753 PHF16 c.912A>C p.P304P Substitution - coding silent Breast COSM4680490 EHMT1 c.2194G>T p.D732Y Substitution - Missense Large_intestine COSM4646143 RING1 c.545A>G p.D182G Substitution - Missense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4968238 TAF1 c.1582G>T p.E528* Substitution - Nonsense Adrenal_gland COSM1087627 KMT2C c.3484A>C p.K1162Q Substitution - Missense Endometrium COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM756952 KDM5C c.1937A>T p.E646V Substitution - Missense Lung COSM1377475 SRCAP c.5626delC p.P1878fs*89 Deletion - Frameshift Stomach COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM270714 MGA c.5599C>T p.R1867* Substitution - Nonsense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM88025 SMARCA4 c.2729C>T p.T910M Substitution - Missense Central_nervous_system COSM1231713 UHRF2 c.1115A>G p.Y372C Substitution - Missense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52787 PBRM1 c.1162C>T p.Q388* Substitution - Nonsense Kidney COSM4681220 EPC1 c.1973_1974delTT p.F658fs*19 Deletion - Frameshift Large_intestine COSM3567468 MBD5 c.4183G>A p.G1395R Substitution - Missense Skin COSM277022 RBBP7 c.820G>A p.E274K Substitution - Missense Large_intestine COSM3358051 PHIP c.311G>T p.G104V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3973930 ATRX c.1960C>A p.R654R Substitution - coding silent Central_nervous_system COSM1103013 TDRD7 c.2409T>C p.I803I Substitution - coding silent Endometrium COSM3736469 MYST3 c.401T>C p.L134S Substitution - Missense Skin COSM5556600 HDAC5 c.1398C>T p.H466H Substitution - coding silent Prostate COSM4136813 ASXL1 c.489A>C p.K163N Substitution - Missense Ovary COSM3048306 SP140_ENST00000392045 c.271G>A p.V91M Substitution - Missense Large_intestine COSM1488340 EZH2 c.555C>T p.D185D Substitution - coding silent Breast COSM336571 KDM4B c.1036C>T p.R346W Substitution - Missense Stomach COSM5049093 PBRM1 c.2129G>C p.R710P Substitution - Missense Oesophagus COSM5413446 SETD2 c.2808C>T p.P936P Substitution - coding silent Skin COSM51433 ARID1A c.645C>A p.Y215* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1192753 CBX5 c.317delA p.K106fs*31 Deletion - Frameshift Prostate COSM4766940 KDM6B c.2920C>T p.R974W Substitution - Missense Stomach COSM274119 BAZ1B c.842A>C p.K281T Substitution - Missense Large_intestine COSM1233518 ZMYM1 c.293A>G p.K98R Substitution - Missense Large_intestine COSM5105795 ATRX c.5268T>C p.I1756I Substitution - coding silent Large_intestine COSM160865 EZH1 c.1123G>A p.A375T Substitution - Missense Breast COSM5977723 ZMYM2 c.1134-1G>T p.? Unknown Central_nervous_system COSM4528433 EP400 c.1537G>A p.A513T Substitution - Missense Skin COSM5602921 BRDT c.1355A>T p.K452I Substitution - Missense Skin COSM1440972 SHPRH c.495delA p.E166fs*3 Deletion - Frameshift Large_intestine COSM4701391 MECOM c.1002_1005delCAAA p.N334fs*7 Deletion - Frameshift Large_intestine COSM379247 SP100 c.1261G>A p.G421R Substitution - Missense Lung COSM245705 KMT2A c.5820A>T p.G1940G Substitution - coding silent Prostate COSM223274 NCOA2 c.4064G>A p.G1355E Substitution - Missense Skin COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Large_intestine COSM1245563 ASH2L c.1768_1771delACTT p.Y591fs*3 Deletion - Frameshift Oesophagus COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM937163 EP400 c.4873G>A p.V1625M Substitution - Missense Endometrium COSM23068 MEN1 c.? p.W126* Substitution - Nonsense Parathyroid COSM5606430 CHD6 c.4316T>G p.M1439R Substitution - Missense Skin COSM4849048 RTF1 c.226G>A p.E76K Substitution - Missense Cervix COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM5365896 ADNP c.1905A>G p.I635M Substitution - Missense Large_intestine COSM3655416 BRD3 c.144G>A p.K48K Substitution - coding silent Breast COSM3834872 CHD7 c.1103A>C p.H368P Substitution - Missense Breast COSM340493 SMARCA4 c.1781G>C p.G594A Substitution - Missense Lung COSM1662407 KDM5C c.1396G>T p.E466* Substitution - Nonsense Kidney COSM255230 CHD7 c.2904_2932del29 p.R969fs*16 Deletion - Frameshift Central_nervous_system COSM5716253 SMARCA2 c.531C>T p.V177V Substitution - coding silent Skin COSM28786 KDM6A c.997C>T p.Q333* Substitution - Nonsense Stomach COSM452704 KMT2C c.6439C>T p.Q2147* Substitution - Nonsense Breast COSM3590011 PHC3 c.2143C>A p.R715R Substitution - coding silent Skin COSM2965397 KDM6A c.2443G>T p.V815F Substitution - Missense Breast COSM4590784 ATF7IP c.2647C>A p.Q883K Substitution - Missense Upper_aerodigestive_tract COSM3875668 PHIP c.4513C>G p.R1505G Substitution - Missense Stomach COSM4383776 TET2 c.1021C>T p.Q341* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM37029 EZH2 c.1937A>C p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM987437 AP001011.3_ENST00000320876 c.5957C>A p.P1986H Substitution - Missense Endometrium COSM5823062 MECOM c.1983G>T p.R661S Substitution - Missense Liver COSM88816 TET2 c.? p.C1298F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4124011 WHSC1 c.3394C>A p.P1132T Substitution - Missense Stomach COSM5391812 ASXL1 c.4132C>A p.L1378I Substitution - Missense Skin COSM1173240 CDYL c.847G>A p.G283R Substitution - Missense Stomach COSM1161682 ACTB c.180C>G p.S60R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3984260 GATAD2B c.367C>G p.P123A Substitution - Missense Kidney COSM4788734 TDRD5 c.1955G>A p.R652K Substitution - Missense Liver COSM3661226 PRDM8 c.1620C>T p.A540A Substitution - coding silent Liver COSM5352889 PRDM2 c.2961T>C p.P987P Substitution - coding silent Large_intestine COSM1195458 PRMT5 c.1895C>T p.S632L Substitution - Missense Lung COSM4614450 ZMYM4 c.590_591insT p.D200fs*1 Insertion - Frameshift Large_intestine COSM5753450 BMI1 c.930T>G p.N310K Substitution - Missense Large_intestine COSM4013680 ZMYND11 c.1567T>C p.C523R Substitution - Missense Stomach COSM5925071 SETD2 c.3797C>T p.S1266F Substitution - Missense Skin COSM53148 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM232660 L3MBTL4 c.1258C>T p.R420C Substitution - Missense Large_intestine COSM1468627 PHF8 c.2108delG p.G703fs*126 Deletion - Frameshift Large_intestine COSM3878492 TRIM24 c.2653C>T p.P885S Substitution - Missense Stomach COSM3457092 HNF1A c.479C>A p.A160D Substitution - Missense Skin COSM3972602 ADNP c.2814T>C p.T938T Substitution - coding silent Central_nervous_system COSM1728547 MYST2 c.151C>G p.Q51E Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM180427 BRPF1 c.196C>T p.R66C Substitution - Missense Stomach COSM1117697 HCFC1 c.5658C>T p.I1886I Substitution - coding silent Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1166744 CHD3 c.929T>C p.V310A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM455833 TAF1L c.742G>A p.E248K Substitution - Missense Large_intestine COSM210977 HDAC9 c.1948G>A p.V650I Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM228110 KMT2C c.1042G>A p.D348N Substitution - Missense Soft_tissue COSM4041704 KDM5A c.3898C>T p.L1300F Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4748533 MBD3 c.113C>A p.P38Q Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3547375 NCOA3 c.1417C>T p.L473F Substitution - Missense Skin COSM1308206 EP300 c.4154G>A p.C1385Y Substitution - Missense Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1047076 PBRM1 c.3947T>G p.F1316C Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3619179 PRDM1 c.791C>T p.P264L Substitution - Missense Skin COSM4733313 TFPT c.7T>A p.L3M Substitution - Missense Large_intestine COSM400776 ARID1A c.1314G>A p.A438A Substitution - coding silent Lung COSM4765108 ARID1A c.6415_6416insC p.F2141fs*9 Insertion - Frameshift Stomach COSM1051394 SETD7 c.419C>A p.T140N Substitution - Missense Endometrium COSM5378659 TDRD5 c.271G>A p.V91I Substitution - Missense Skin COSM1382257 SUZ12 c.1412A>G p.H471R Substitution - Missense Large_intestine COSM4548965 RAI1 c.4610G>A p.R1537Q Substitution - Missense Skin COSM4953163 EP400 c.5002T>C p.L1668L Substitution - coding silent Liver COSM4883928 PRDM12 c.371C>A p.P124Q Substitution - Missense Upper_aerodigestive_tract COSM4618463 KDM3B c.2495C>T p.T832I Substitution - Missense Large_intestine COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1676099 MTA2 c.809C>T p.A270V Substitution - Missense Large_intestine COSM3399790 TDRD10 c.42G>C p.L14L Substitution - coding silent Central_nervous_system COSM96355 BAP1 c.1794_1797delAGTG p.V599fs*17 Deletion - Frameshift Pleura COSM3736955 CREBBP c.4298A>G p.Y1433C Substitution - Missense Lung COSM4627414 CREBBP c.1053C>T p.R351R Substitution - coding silent Large_intestine COSM4961363 KDM3B c.2630-1G>A p.? Unknown Liver COSM1179101 KDM1B c.287T>G p.F96C Substitution - Missense Prostate COSM1169695 TET2 c.? p.T1047fs*9 Frameshift Haematopoietic_and_lymphoid_tissue COSM4478555 TDRD6 c.2249C>T p.P750L Substitution - Missense Skin COSM5911156 PHF8 c.236C>G p.P79R Substitution - Missense Skin COSM1241437 KMT2C c.11570C>T p.T3857M Substitution - Missense Oesophagus COSM1364808 PHC1 c.2400C>T p.C800C Substitution - coding silent Large_intestine COSM1048992 SETD5_ENST00000402198 c.1728C>A p.I576I Substitution - coding silent Endometrium COSM159412 BRD8 c.1105G>T p.E369* Substitution - Nonsense Breast COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM40250 L3MBTL2 c.1040C>T p.T347I Substitution - Missense Central_nervous_system COSM79112 ZMYM3 c.2649C>A p.C883* Substitution - Nonsense Ovary COSM72299 PRMT8 c.750C>G p.I250M Substitution - Missense Ovary COSM88089 KMT2D c.2573C>T p.P858L Substitution - Missense Central_nervous_system COSM87130 TET2 c.3781C>T p.R1261C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144805 CTCF c.877C>A p.P293T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM168758 TIF1 c.2059C>T p.R687* Substitution - Nonsense Large_intestine COSM219271 CHD6 c.2037G>A p.M679I Substitution - Missense Breast COSM242539 HDAC5 c.850C>A p.R284S Substitution - Missense Prostate COSM234448 BRDT c.2523G>A p.R841R Substitution - coding silent Kidney COSM255057 KMT2A c.5972_5991del20 p.E1992fs*4 Deletion - Frameshift Urinary_tract COSM291735 CREBBP c.5039_5041delCCT p.S1680delS Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM308525 ASXL1 c.2869A>T p.T957S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM384349 BRD4 c.655C>G p.Q219E Substitution - Missense Lung COSM379334 WHSC1 c.3295G>A p.E1099K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM399093 IDH1 c.648G>A p.L216L Substitution - coding silent Lung COSM416925 TP53BP1 c.3493G>A p.E1165K Substitution - Missense Urinary_tract COSM430522 HNF1A c.79A>C p.I27L Substitution - Missense Liver COSM431131 ARID2 c.4304C>T p.S1435L Substitution - Missense Breast COSM449007 HDAC3 c.1012C>T p.L338F Substitution - Missense Breast COSM988952 MBD2 c.889G>T p.E297* Substitution - Nonsense Endometrium COSM985542 CHD3 c.5919G>A p.E1973E Substitution - coding silent Endometrium COSM976130 RAI1 c.4237A>G p.M1413V Substitution - Missense Endometrium COSM956534 ARID4A c.2324A>C p.K775T Substitution - Missense Endometrium COSM1048976 SETD5_ENST00000402198 c.904C>T p.R302C Substitution - Missense Endometrium COSM936105 SETD1B c.2212G>A p.A738T Substitution - Missense Endometrium COSM1030675 BRWD1 c.5839G>T p.D1947Y Substitution - Missense Endometrium COSM709527 SETBP1 c.1405A>G p.K469E Substitution - Missense Lung COSM734377 GABRG1 c.1185T>A p.S395S Substitution - coding silent Lung COSM725096 PRDM15 c.3376G>A p.A1126T Substitution - Missense Lung COSM726877 PHF21B c.505G>A p.V169M Substitution - Missense Lung COSM908296 HDAC1 c.240T>C p.R80R Substitution - coding silent Endometrium COSM905719 KDM1A c.2106C>T p.F702F Substitution - coding silent Endometrium COSM1007234 MBD5 c.2904G>A p.S968S Substitution - coding silent Endometrium COSM1125509 ATRX c.1252C>T p.R418* Substitution - Nonsense Central_nervous_system COSM1081845 PHIP c.4495G>T p.E1499* Substitution - Nonsense Endometrium COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1253881 GTF3C1 c.2182C>G p.P728A Substitution - Missense Oesophagus COSM1184956 BRPF3 c.3325G>A p.V1109I Substitution - Missense Large_intestine COSM1184475 BAZ1B c.3499G>A p.V1167M Substitution - Missense Large_intestine COSM1262073 PHIP c.14G>A p.R5K Substitution - Missense Oesophagus COSM1258616 MYST1 c.1049A>C p.E350A Substitution - Missense Pancreas COSM1315855 EZH2 c.1436C>A p.S479Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1285701 KDM5A c.3083C>T p.A1028V Substitution - Missense Autonomic_ganglia COSM1289981 SETDB1 c.3080C>G p.S1027* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1308203 EP300 c.2245A>G p.M749V Substitution - Missense Urinary_tract COSM1270991 ZMYM3 c.2174G>A p.R725H Substitution - Missense Stomach COSM1420706 TBL1XR1 c.377delA p.N126fs*16 Deletion - Frameshift Large_intestine COSM1359473 KDM2B c.2609G>A p.R870Q Substitution - Missense Large_intestine COSM1685361 SETBP1 c.2612T>G p.I871S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1610432 MYST2 c.710C>T p.S237F Substitution - Missense Liver COSM1609696 CDYL2 c.1036_1037insT p.K346fs*24 Insertion - Frameshift Liver COSM1614883 MSH6 c.1629A>G p.K543K Substitution - coding silent Liver COSM1614970 SMEK2 c.525A>G p.L175L Substitution - coding silent Liver COSM1615188 KDM3A c.3203A>C p.N1068T Substitution - Missense Liver COSM1627570 JMJD1C c.5678A>G p.N1893S Substitution - Missense Liver COSM1628419 HNF1A c.1228G>T p.G410W Substitution - Missense Liver COSM1716663 ATRX c.2422C>T p.R808* Substitution - Nonsense Central_nervous_system COSM1716692 ATRX c.4113_4116delAAGA p.K1373fs*1 Deletion - Frameshift Central_nervous_system COSM1664407 SUZ12 c.1764T>G p.D588E Substitution - Missense Kidney COSM1747473 SETDB2 c.2139A>G p.K713K Substitution - coding silent Urinary_tract COSM2150848 GLYATL1 c.994C>T p.P332S Substitution - Missense Central_nervous_system COSM2235488 ARID1A c.3277delA p.K1094fs*67 Deletion - Frameshift Large_intestine COSM2797729 BPTF c.3540G>A p.P1180P Substitution - coding silent Large_intestine COSM2920068 CREBBP c.416G>A p.S139N Substitution - Missense Biliary_tract COSM2995144 CTCF c.1042G>A p.E348K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3296126 MBD5 c.1276G>A p.V426I Substitution - Missense Upper_aerodigestive_tract COSM3360954 ORC1 c.1957G>A p.A653T Substitution - Missense Kidney COSM3363212 PHF20 c.1000A>G p.N334D Substitution - Missense Kidney COSM3392494 BAP1 c.1526C>A p.S509* Substitution - Nonsense Pancreas COSM3379791 MBD5 c.24C>T p.D8D Substitution - coding silent Pancreas COSM3403483 AP001011.3_ENST00000320876 c.1398A>T p.R466S Substitution - Missense Central_nervous_system COSM3461623 KMT2D c.1611C>T p.S537S Substitution - coding silent Skin COSM3458249 EP400 c.5554C>T p.P1852S Substitution - Missense Skin COSM3615207 PRDM9 c.1265G>A p.R422K Substitution - Missense Skin COSM3562424 PHF8 c.2258G>A p.R753Q Substitution - Missense Skin COSM3517618 KAT2A c.1011C>T p.F337F Substitution - coding silent Skin COSM3667526 PRDM16 c.1394C>T p.P465L Substitution - Missense Liver COSM3704149 ARID2 c.4888C>T p.Q1630* Substitution - Nonsense Liver COSM3715605 SND1 c.2098G>A p.D700N Substitution - Missense Upper_aerodigestive_tract COSM3744313 BAZ1A c.3543G>A p.K1181K Substitution - coding silent Liver COSM3752792 TRIM66 c.1397A>G p.H466R Substitution - Missense Upper_aerodigestive_tract COSM3780828 PRDM13 c.873G>A p.V291V Substitution - coding silent Pancreas COSM3783567 TCF20 c.1693C>A p.Q565K Substitution - Missense Prostate COSM3792582 KDM5A c.2355G>A p.R785R Substitution - coding silent Urinary_tract COSM3849780 LMNB1 c.1662G>A p.E554E Substitution - coding silent Bone COSM3933598 NCOA1 c.1205G>C p.R402P Substitution - Missense Urinary_tract COSM3937047 SETD1A c.1054T>C p.S352P Substitution - Missense Oesophagus COSM3822068 MUM1 c.278G>A p.R93H Substitution - Missense Breast COSM3830922 PHF3 c.1871A>G p.Q624R Substitution - Missense Breast COSM3906506 SMARCA2 c.494G>A p.S165N Substitution - Missense Stomach COSM3914264 BRWD3 c.4183C>T p.R1395C Substitution - Missense Skin COSM3879545 KMT2C c.9465A>G p.I3155M Substitution - Missense Stomach COSM4031020 ARID1A c.5125-1G>A p.? Unknown Stomach COSM4008367 DMAP1 c.1070C>T p.T357M Substitution - Missense Stomach COSM3998066 SFMBT2 c.1731G>A p.K577K Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3987448 TDRD3 c.1552G>A p.A518T Substitution - Missense Kidney COSM4139919 CBX8 c.85C>G p.L29V Substitution - Missense Ovary COSM4145934 PHRF1 c.1003G>T p.A335S Substitution - Missense Thyroid COSM4170097 TET2 c.2551delC p.P851fs*22 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4170401 KMT2D c.12605_12606delTG p.V4202fs*14 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4402672 SETDB1 c.956A>T p.K319M Substitution - Missense Skin COSM4387440 BAP1 c.1175_1182delAGCAGTAC p.Q392fs*3 Deletion - Frameshift Eye COSM4408766 PRMT8 c.653G>A p.R218Q Substitution - Missense Oesophagus COSM4604103 TRRAP c.11371A>C p.T3791P Substitution - Missense Upper_aerodigestive_tract COSM4431598 KMT2D c.15301G>A p.E5101K Substitution - Missense Bone COSM4533614 MBD4 c.199G>A p.E67K Substitution - Missense Skin COSM4565437 TCF20 c.2104_2105CC>TT p.P702F Substitution - Missense Skin COSM4434756 GTF3C1 c.2874G>A p.K958K Substitution - coding silent Oesophagus COSM4590278 KDM2A c.310A>G p.S104G Substitution - Missense Upper_aerodigestive_tract COSM4528571 CBX4 c.1548G>A p.E516E Substitution - coding silent Skin COSM4492353 SRCAP c.3968C>T p.P1323L Substitution - Missense Skin COSM4454451 PRDM5 c.490A>T p.K164* Substitution - Nonsense Skin COSM4720575 RBBP5 c.564C>A p.S188S Substitution - coding silent Large_intestine COSM4725329 SFMBT2 c.566G>T p.G189V Substitution - Missense Large_intestine COSM4629020 PHF16 c.1146T>C p.A382A Substitution - coding silent Large_intestine COSM4628032 HDAC4 c.1560C>T p.S520S Substitution - coding silent Large_intestine COSM4774760 MSH6 c.3802-13_3802-10delTTTC p.? Unknown Stomach COSM4917775 BAZ2A_ENST00000379441 c.4925G>T p.R1642L Substitution - Missense Liver COSM4915691 JMJD1C c.5460C>T p.S1820S Substitution - coding silent Liver COSM4832922 BRWD3 c.596C>T p.S199L Substitution - Missense Cervix COSM4957048 RAG2 c.507A>T p.T169T Substitution - coding silent Liver COSM4986342 SMARCA4 c.2019G>T p.Q673H Substitution - Missense Soft_tissue COSM5031479 KMT2D c.1552T>G p.S518A Substitution - Missense Pancreas COSM5061569 JARID2 c.343A>G p.R115G Substitution - Missense Stomach COSM5502326 PYGO2 c.884G>A p.S295N Substitution - Missense Biliary_tract COSM5521216 KMT2D c.10816C>G p.L3606V Substitution - Missense Biliary_tract COSM5456588 SMYD4 c.1514C>T p.A505V Substitution - Missense Large_intestine COSM5420997 ZMYM3 c.140_143delCCCC p.P47fs*65 Deletion - Frameshift Prostate COSM5629170 PHF3 c.4188T>A p.N1396K Substitution - Missense Oesophagus COSM5755321 DOT1L c.629G>A p.G210E Substitution - Missense Large_intestine COSM5725313 KMT2C c.6649C>T p.P2217S Substitution - Missense Skin COSM5727518 TTF2 c.3246C>T p.H1082H Substitution - coding silent Skin COSM5748960 ZMYM3 c.2206C>T p.R736C Substitution - Missense Pancreas COSM5586781 TET2 c.1754C>T p.S585L Substitution - Missense Skin COSM5587019 ZBTB33 c.1354C>T p.P452S Substitution - Missense Skin COSM5584109 SP140_ENST00000392045 c.366C>T p.A122A Substitution - coding silent Skin COSM5594403 CHD7 c.5839G>A p.E1947K Substitution - Missense Skin COSM5665521 ATRX c.3654G>T p.E1218D Substitution - Missense Soft_tissue COSM5692893 GABRG1 c.550A>T p.I184F Substitution - Missense Soft_tissue COSM5752519 KMT2C c.1381C>T p.Q461* Substitution - Nonsense Breast COSM5571347 FMR1 c.1128G>A p.V376V Substitution - coding silent Prostate COSM5790703 WHSC1L1 c.856T>G p.C286G Substitution - Missense Breast COSM5801053 DMAP1 c.647_648insCAGT p.V217fs*4 Insertion - Frameshift Breast COSM5811372 MYST3 c.3369G>A p.K1123K Substitution - coding silent Liver COSM5814360 PRDM16 c.1187-3T>C p.? Unknown Liver COSM5880790 SMARCD2 c.881G>A p.R294Q Substitution - Missense Soft_tissue COSM5944710 ASXL1 c.1769_1770insTT p.Y591fs*113 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5939127 MECOM c.2521G>A p.D841N Substitution - Missense Skin COSM5931692 NIPBL c.8161C>T p.R2721* Substitution - Nonsense Skin COSM5928245 BAZ2B c.3620C>T p.P1207L Substitution - Missense Skin COSM5896030 WDR5 c.670C>T p.P224S Substitution - Missense Skin COSM5957177 CHD9 c.5666C>T p.A1889V Substitution - Missense Thyroid COSM5968484 SETD1A c.4017C>A p.P1339P Substitution - coding silent Genital_tract COSM6004399 CHD6 c.3403C>T p.R1135C Substitution - Missense Prostate COSM53171 TET2 c.? p.Q910* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM85769 EZH2 c.? p.Y646? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Lung COSM53220 IDH1 c.? p.? Unknown Bone COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM3738471 TET2 c.? p.R1366L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3987102 MBD6 c.138C>A p.S46S Substitution - coding silent Kidney COSM1287365 PRDM15 c.4290C>T p.H1430H Substitution - coding silent Autonomic_ganglia COSM21481 HNF1A c.872_873insC p.G292fs*25 Insertion - Frameshift Liver COSM4793815 SETD2 c.4813G>A p.V1605I Substitution - Missense Liver COSM175586 YEATS4 c.288C>T p.F96F Substitution - coding silent Breast COSM1609216 SETD1A c.4254C>G p.R1418R Substitution - coding silent Liver COSM1096253 PHF20L1 c.376C>T p.R126C Substitution - Missense Skin COSM5346943 ARID1A c.267_268delCA p.S90fs*20 Deletion - Frameshift Endometrium COSM5973722 DNMT3A c.1059G>A p.A353A Substitution - coding silent Upper_aerodigestive_tract COSM4905177 ASXL1 c.2170C>T p.L724L Substitution - coding silent Skin COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM4775659 DIDO1 c.6165C>T p.P2055P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5398610 MECOM c.2173C>T p.L725F Substitution - Missense Skin COSM219174 HDAC9 c.2819C>T p.T940M Substitution - Missense Large_intestine COSM1681835 DIDO1 c.436G>T p.D146Y Substitution - Missense Prostate COSM4617574 ORC1 c.608C>T p.T203I Substitution - Missense Upper_aerodigestive_tract COSM4768947 KDM4A c.3025G>A p.E1009K Substitution - Missense Biliary_tract COSM87108 TET2 c.2692G>T p.G898* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3545268 ASXL1 c.4146C>T p.A1382A Substitution - coding silent Large_intestine COSM369622 KDM5D c.1577G>T p.G526V Substitution - Missense Lung COSM3992490 KDM6A c.1576G>T p.G526W Substitution - Missense Kidney COSM379775 PRDM16 c.1137C>A p.S379S Substitution - coding silent Lung COSM1201011 CHD8 c.6841C>T p.P2281S Substitution - Missense Large_intestine COSM983346 BPTF c.7016C>T p.S2339F Substitution - Missense Endometrium COSM446631 SMARCC1 c.2607C>G p.A869A Substitution - coding silent Breast COSM253100 SMARCA1 c.2128delA p.M710fs*6 Deletion - Frameshift Ovary COSM1018644 HDAC4 c.657C>T p.S219S Substitution - coding silent Endometrium COSM4854199 KDM6A c.2453C>T p.S818L Substitution - Missense Cervix COSM4162008 KMT2C c.2578C>T p.P860S Substitution - Missense Thyroid COSM144626 PHF6 c.955C>T p.R319* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3524751 SMCHD1 c.2452C>T p.R818C Substitution - Missense Breast COSM3080627 ACTL6B c.563-8C>T p.? Unknown Liver COSM28756 IDH1 c.? p.G97D Substitution - Missense Biliary_tract COSM1179107 KMT2C c.851G>A p.R284Q Substitution - Missense Central_nervous_system COSM1185366 KDM1A c.35C>T p.A12V Substitution - Missense Lung COSM4767425 ARID2 c.3841G>T p.G1281W Substitution - Missense Biliary_tract COSM4805501 TRRAP c.8853G>T p.T2951T Substitution - coding silent Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Biliary_tract COSM5879047 TET2 c.5275delC p.P1759fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3731429 SMARCC2 c.3128_3129insC p.G1044fs*33 Insertion - Frameshift Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1179107 KMT2C c.851G>A p.R284Q Substitution - Missense Soft_tissue COSM4080443 KDM4B c.1111C>T p.R371C Substitution - Missense Stomach COSM249685 NCOR1 c.448G>A p.G150R Substitution - Missense Thyroid COSM751045 CHD7 c.6068G>T p.R2023M Substitution - Missense Lung COSM1362016 KMT2D c.7704A>T p.P2568P Substitution - coding silent Large_intestine COSM937180 EP400 c.7068C>T p.I2356I Substitution - coding silent Skin COSM1368977 CHD8 c.7112delA p.N2371fs*6 Deletion - Frameshift Large_intestine COSM1200989 CHD6 c.6610A>G p.T2204A Substitution - Missense Large_intestine COSM4043651 BAZ2A_ENST00000379441 c.5660G>A p.R1887H Substitution - Missense Stomach COSM4439050 ASXL3 c.2053A>G p.K685E Substitution - Missense Oesophagus COSM4949762 SCML2 c.23-2A>T p.? Unknown Liver COSM752545 PRDM12 c.928C>T p.Q310* Substitution - Nonsense Lung COSM1583129 DNMT3A c.2645G>T p.R882L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM692225 EP400 c.4710A>T p.I1570I Substitution - coding silent Lung COSM3740454 TCF20 c.2696G>A p.R899H Substitution - Missense Liver COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4460599 NCOA6 c.1172C>T p.P391L Substitution - Missense Skin COSM5739249 GLYATL1 c.869A>T p.N290I Substitution - Missense Small_intestine COSM895730 VPS72 c.846G>A p.R282R Substitution - coding silent Endometrium COSM5358670 NCOA2 c.3608G>A p.R1203H Substitution - Missense Large_intestine COSM5987248 STK31 c.1745C>T p.S582L Substitution - Missense Salivary_gland COSM5716863 ORC1 c.396T>G p.L132L Substitution - coding silent Skin COSM5381065 KDM4A c.297G>A p.K99K Substitution - coding silent Skin COSM4402759 BPTF c.2817A>G p.K939K Substitution - coding silent Skin COSM3522224 ZBTB4 c.2290C>T p.R764C Substitution - Missense Skin COSM3895376 ATF2 c.121C>T p.H41Y Substitution - Missense Skin COSM1634824 TDRD6 c.1129G>T p.A377S Substitution - Missense Liver COSM4889411 CHD1 c.2638G>T p.V880F Substitution - Missense Upper_aerodigestive_tract COSM1190307 DIDO1 c.4061T>G p.V1354G Substitution - Missense Lung COSM52805 PBRM1 c.1983A>T p.K661N Substitution - Missense Kidney COSM5600286 PRMT10 c.743G>A p.R248K Substitution - Missense Skin COSM4591233 NCOR1 c.534G>C p.K178N Substitution - Missense Upper_aerodigestive_tract COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1390248 SMARCA4 c.1130G>A p.R377H Substitution - Missense Large_intestine COSM4591233 NCOR1 c.534G>C p.K178N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM20429 TRRAP c.9809G>A p.R3270H Substitution - Missense Large_intestine COSM932203 RSF1 c.1608A>C p.E536D Substitution - Missense Endometrium COSM20429 TRRAP c.9809G>A p.R3270H Substitution - Missense Endometrium COSM1136777 ASXL1 c.2928A>G p.Q976Q Substitution - coding silent Kidney COSM907698 ARID1A c.2248C>T p.R750* Substitution - Nonsense Endometrium COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4663231 ARID1A c.4971G>T p.R1657S Substitution - Missense Large_intestine COSM4477099 PRMT6 c.34C>T p.R12C Substitution - Missense Skin COSM4952833 BMI1 c.589G>C p.E197Q Substitution - Missense Liver COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3562299 KDM5C c.200C>T p.P67L Substitution - Missense Skin COSM5628966 BRD8 c.356A>G p.Y119C Substitution - Missense Oesophagus COSM4817495 HDAC3 c.1271G>A p.S424N Substitution - Missense Cervix COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4833270 TDRD6 c.3037G>A p.E1013K Substitution - Missense Cervix COSM4269238 AKAP1 c.2392G>A p.G798R Substitution - Missense Large_intestine COSM255372 KDM6A c.894delG p.V300fs*25 Deletion - Frameshift Central_nervous_system COSM4506908 TRRAP c.7276C>T p.L2426F Substitution - Missense Skin COSM969201 JMJD5 c.205G>A p.E69K Substitution - Missense Endometrium COSM1285699 KDM3B c.2493G>A p.K831K Substitution - coding silent Autonomic_ganglia COSM1617229 ACTL6A c.629T>G p.F210C Substitution - Missense Liver COSM1341427 ARID1A c.5966G>T p.R1989L Substitution - Missense Endometrium COSM1662121 HELLS c.1803C>G p.F601L Substitution - Missense Kidney COSM1051393 SETD7 c.644+2T>G p.? Unknown Endometrium COSM961530 MGA c.7286+1G>A p.? Unknown Endometrium COSM4489701 ASXL3 c.2640C>T p.A880A Substitution - coding silent Skin COSM3932767 KDM6B c.989T>G p.V330G Substitution - Missense Urinary_tract COSM935973 HNF1A c.564G>T p.E188D Substitution - Missense Endometrium COSM5343778 EPC2 c.700A>T p.M234L Substitution - Missense Large_intestine COSM3657070 KIAA1045 c.455G>A p.R152K Substitution - Missense Skin COSM254613 CHD6 c.3404G>A p.R1135H Substitution - Missense Lung COSM1476243 HNF1A c.863_864insC p.P289fs*28 Insertion - Frameshift Large_intestine COSM252979 CLOCK c.368delT p.L123fs*1 Deletion - Frameshift Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5999187 ZMYND11 c.426C>T p.D142D Substitution - coding silent Prostate COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM36166 ASXL1 c.1772_1773insA p.Y591fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87740 BRD1 c.478G>A p.E160K Substitution - Missense Pancreas COSM321635 MECOM c.1159G>T p.D387Y Substitution - Missense Lung COSM5599939 KMT2D c.1855C>T p.P619S Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4607840 TET2 c.1331C>A p.T444K Substitution - Missense Adrenal_gland COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6002971 RAI1 c.2958C>T p.I986I Substitution - coding silent Prostate COSM5723506 TDRD5 c.1217G>A p.W406* Substitution - Nonsense Skin COSM3744312 BAZ1A c.4267C>G p.R1423G Substitution - Missense Liver COSM4155663 KMT2C c.7270C>T p.Q2424* Substitution - Nonsense Kidney COSM3775503 PRDM5 c.94G>T p.G32C Substitution - Missense Urinary_tract COSM1719200 KAT2A c.1617C>T p.I539I Substitution - coding silent Skin COSM2064461 HCFC2 c.349delC p.P118fs*43 Deletion - Frameshift Large_intestine COSM1615831 DIDO1 c.5010C>T p.P1670P Substitution - coding silent Liver COSM5387203 PHF23 c.670A>T p.K224* Substitution - Nonsense Skin COSM5600274 PRDM15 c.2619C>T p.R873R Substitution - coding silent Skin COSM5606646 JHDM1D c.784C>T p.P262S Substitution - Missense Skin COSM3973904 ATRX c.5351T>G p.I1784S Substitution - Missense Central_nervous_system COSM750463 WHSC1L1 c.121G>A p.A41T Substitution - Missense Lung COSM1627816 KMT2A c.6070+3A>G p.? Unknown Liver COSM5929150 TAF1L c.4279C>T p.P1427S Substitution - Missense Skin COSM5945404 ASXL1 c.1531C>T p.P511S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384660 KDM5A c.1370C>T p.A457V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4383926 TET2 c.3898T>A p.F1300I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5011919 EYA1 c.911G>A p.R304H Substitution - Missense Kidney COSM3817840 SETD1A c.383A>C p.H128P Substitution - Missense Breast COSM21478 HNF1A c.618G>T p.W206C Substitution - Missense Liver COSM4432341 BPTF c.5224T>G p.Y1742D Substitution - Missense Oesophagus COSM4990559 ARID1A c.6030C>T p.I2010I Substitution - coding silent Skin COSM77943 KDM5C c.536G>A p.R179H Substitution - Missense Breast COSM3460986 ARID2 c.5062G>A p.D1688N Substitution - Missense Skin COSM394637 CHD8 c.5975G>A p.R1992H Substitution - Missense Skin COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5815368 SMARCA2 c.677A>T p.Q226L Substitution - Missense Liver COSM3064235 BRD1 c.1324G>A p.A442T Substitution - Missense Oesophagus COSM4793138 ARID1B c.3285G>A p.L1095L Substitution - coding silent Liver COSM5402174 BRD8 c.635C>T p.T212I Substitution - Missense Skin COSM975879 NCOR1 c.3099G>A p.P1033P Substitution - coding silent Endometrium COSM277766 TP53BP1 c.5003G>T p.R1668I Substitution - Missense Large_intestine COSM6003254 AP001011.3_ENST00000320876 c.5040T>C p.P1680P Substitution - coding silent Prostate COSM1159395 PHIP c.1428G>A p.P476P Substitution - coding silent Large_intestine COSM1159235 SHPRH c.2313C>T p.T771T Substitution - coding silent Pancreas COSM6004489 PCNA c.579A>C p.E193D Substitution - Missense Prostate COSM5443946 PHRF1 c.756C>A p.L252L Substitution - coding silent Oesophagus COSM1027546 NCOA3 c.3786G>A p.Q1262Q Substitution - coding silent Oesophagus COSM1368983 CHD8 c.5713delC p.L1905fs*30 Deletion - Frameshift Large_intestine COSM4748996 SIRT6 c.242A>G p.K81R Substitution - Missense Stomach COSM4100185 DIDO1 c.4351G>T p.D1451Y Substitution - Missense Stomach COSM4979025 KDM4B c.50C>T p.T17M Substitution - Missense Oesophagus COSM4169967 EP300 c.1913A>G p.Y638C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3841464 DIDO1 c.3192G>A p.Q1064Q Substitution - coding silent Breast COSM273289 SP110 c.1611C>T p.C537C Substitution - coding silent Large_intestine COSM2199977 SETD3 c.1413G>A p.E471E Substitution - coding silent Large_intestine COSM5616857 SRCAP c.3738G>A p.G1246G Substitution - coding silent Lung COSM1659062 KMT2C c.7207C>T p.R2403* Substitution - Nonsense Salivary_gland COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM895026 PRDM2 c.4702C>T p.P1568S Substitution - Missense Endometrium COSM328978 KMT2C c.8390delA p.K2797fs*26 Deletion - Frameshift Stomach COSM3517750 EZH1 c.1675C>T p.P559S Substitution - Missense Skin COSM198796 PHF2 c.1468delA p.K492fs*6 Deletion - Frameshift Prostate COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5997037 PHF3 c.1588C>T p.R530* Substitution - Nonsense Prostate COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM353468 PHF14 c.2749G>T p.E917* Substitution - Nonsense Lung COSM1258840 NCOA3 c.2759G>A p.W920* Substitution - Nonsense Oesophagus COSM5463025 BRWD1 c.1862C>T p.P621L Substitution - Missense Large_intestine COSM1377475 SRCAP c.5626delC p.P1878fs*89 Deletion - Frameshift Large_intestine COSM4153123 TRRAP c.10105G>A p.E3369K Substitution - Missense Kidney COSM381401 SETD3 c.1156C>T p.R386* Substitution - Nonsense Lung COSM3426486 MSH6 c.541G>A p.E181K Substitution - Missense Large_intestine COSM161747 INTS12 c.80C>G p.S27C Substitution - Missense Breast COSM4677501 DIDO1 c.5023C>T p.Q1675* Substitution - Nonsense Large_intestine COSM4147042 KDM5A c.1413C>T p.L471L Substitution - coding silent Thyroid COSM1074225 SHPRH c.193G>A p.V65M Substitution - Missense Endometrium COSM4702379 KMT2A c.2809_2811delTCA p.S938delS Deletion - In frame Large_intestine COSM366707 ATAD2 c.3937G>C p.E1313Q Substitution - Missense Lung COSM4608020 NCOA2 c.4126G>T p.G1376W Substitution - Missense Adrenal_gland COSM5895816 EYA4 c.1617-2A>G p.? Unknown Skin COSM4140058 ASXL3 c.1950A>G p.S650S Substitution - coding silent Ovary COSM4007568 MEAF6 c.564-1G>A p.? Unknown Stomach COSM4959541 CHD7 c.2017G>A p.A673T Substitution - Missense Liver COSM2229132 EP400 c.4528G>A p.A1510T Substitution - Missense Skin COSM371125 DIDO1 c.4749A>T p.A1583A Substitution - coding silent Lung COSM4639911 CHD4 c.1293G>A p.E431E Substitution - coding silent Large_intestine COSM5613599 CHD4 c.3581T>A p.L1194Q Substitution - Missense Lung COSM4506779 SP110 c.711C>T p.D237D Substitution - coding silent Skin COSM21486 HNF1A c.872delC p.P291fs*51 Deletion - Frameshift Liver COSM1085994 TRIM24 c.1406G>A p.R469Q Substitution - Missense Endometrium COSM1414688 PRMT2 c.980G>A p.R327H Substitution - Missense Large_intestine COSM5824713 NCOA3 c.2123A>C p.K708T Substitution - Missense Pancreas COSM255249 KDM5A c.4470+6G>T p.? Unknown Central_nervous_system COSM132975 ASXL1 c.? p.L775* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5020268 BAP1 c.1786A>G p.S596G Substitution - Missense Soft_tissue COSM289041 TDRD6 c.2078C>T p.T693M Substitution - Missense Pancreas COSM3505547 CHD2 c.4096C>T p.P1366S Substitution - Missense Skin COSM144570 PHF6 c.903C>A p.Y301* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM221930 TDRD5 c.2536G>A p.E846K Substitution - Missense Skin COSM4636621 BAHD1 c.1498G>A p.A500T Substitution - Missense Large_intestine COSM96358 BAP1 c.2050C>T p.Q684* Substitution - Nonsense Kidney COSM371134 SETD5_ENST00000402198 c.80C>T p.S27F Substitution - Missense Lung COSM3560213 SCML2 c.733C>T p.P245S Substitution - Missense Skin COSM1087623 KMT2C c.3592A>C p.K1198Q Substitution - Missense Endometrium COSM125593 PRMT2 c.712G>A p.G238R Substitution - Missense Upper_aerodigestive_tract COSM4956258 RAG2 c.901G>A p.E301K Substitution - Missense Liver COSM3989430 SIRT7 c.1170C>T p.C390C Substitution - coding silent Kidney COSM4476481 MSH6 c.2070C>T p.Y690Y Substitution - coding silent Skin COSM3720596 TET2 c.839_840insT p.N281fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5475026 KMT2C c.6775C>T p.P2259S Substitution - Missense Large_intestine COSM5831383 RNF134 c.68_69delTG p.L23fs*19 Deletion - Frameshift Breast COSM1639810 ARID1A c.885_888delCAAC p.Q297fs*65 Deletion - Frameshift Stomach COSM25347 PHF14 c.1961T>C p.L654P Substitution - Missense Skin COSM4521679 MECP2 c.1089G>A p.K363K Substitution - coding silent Skin COSM4779956 PHF3 c.4925C>T p.S1642F Substitution - Missense Liver COSM5720268 TET2 c.5665C>T p.P1889S Substitution - Missense Skin COSM1311128 NIPBL c.7685+1G>A p.? Unknown Urinary_tract COSM723125 ASXL1 c.2035G>T p.G679* Substitution - Nonsense Lung COSM1682715 ZMYM3 c.3736C>A p.P1246T Substitution - Missense Large_intestine COSM52999 EZH2 c.2187_2188insT p.D730fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3805030 ZMYM1 c.94C>G p.Q32E Substitution - Missense Breast COSM4060275 SETD1A c.1382G>A p.R461H Substitution - Missense Stomach COSM3756558 DOT1L c.4252G>C p.V1418L Substitution - Missense Large_intestine COSM1622430 JHDM1D c.2752A>G p.M918V Substitution - Missense Liver COSM1114791 SMARCA1 c.1639G>T p.E547* Substitution - Nonsense Endometrium COSM5001314 NCOA6 c.3256G>T p.A1086S Substitution - Missense Pancreas COSM473780 ASXL3 c.2108C>A p.P703Q Substitution - Missense Kidney COSM43505 TET2 c.? p.R1516* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4591023 KMT2C c.871C>T p.L291F Substitution - Missense Upper_aerodigestive_tract COSM1416614 TCF20 c.5826delC p.L1943fs*>18 Deletion - Frameshift Large_intestine COSM3126247 SMARCA5 c.371G>A p.R124H Substitution - Missense Large_intestine COSM988849 MBD1 c.53G>A p.R18H Substitution - Missense Endometrium COSM5908956 TAF1L c.4580C>T p.S1527F Substitution - Missense Skin COSM4628042 PHF21B c.937T>A p.Y313N Substitution - Missense Large_intestine COSM52889 PBRM1 c.1253delC p.P418fs*20 Deletion - Frameshift Kidney COSM391860 SETD2 c.4706_4707delAA p.K1569fs*17 Deletion - Frameshift Lung COSM4677514 DIDO1 c.2043T>G p.I681M Substitution - Missense Large_intestine COSM4044288 CHD4 c.5195G>T p.R1732L Substitution - Missense Stomach COSM4968189 CHD9 c.2473G>A p.E825K Substitution - Missense Adrenal_gland COSM3686818 JMJD1C c.423G>T p.K141N Substitution - Missense Large_intestine COSM43421 TET2 c.5059C>T p.Q1687* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3686130 HDAC5 c.1165-3delC p.? Unknown Large_intestine COSM298006 KMT2D c.10011G>A p.Q3337Q Substitution - coding silent Large_intestine COSM5571882 ATXN7 c.2385G>A p.V795V Substitution - coding silent Prostate COSM907743 ARID1A c.5568G>T p.Q1856H Substitution - Missense Endometrium COSM939489 ARID2 c.211G>T p.E71* Substitution - Nonsense Endometrium COSM1600617 TTF2 c.2522A>G p.Q841R Substitution - Missense Liver COSM1476831 CHD4 c.3484C>T p.R1162W Substitution - Missense Endometrium COSM167296 TP53BP1 c.5432G>A p.R1811Q Substitution - Missense Cervix COSM1717550 SIRT4 c.914G>A p.G305E Substitution - Missense Ovary COSM5763655 MBD1 c.488C>A p.A163D Substitution - Missense Large_intestine COSM4141790 NIPBL c.5709+1G>C p.? Unknown Ovary COSM5013602 CHD6 c.4175C>T p.S1392F Substitution - Missense Kidney COSM3859984 ARID1B c.4393G>T p.G1465C Substitution - Missense Stomach COSM88749 CREBBP c.4336C>T p.R1446C Substitution - Missense Upper_aerodigestive_tract COSM1492754 PRDM4 c.2404T>A p.*802K Nonstop extension Kidney COSM422419 EHMT1 c.3042C>T p.C1014C Substitution - coding silent Urinary_tract COSM4455132 HDAC9 c.558A>G p.T186T Substitution - coding silent Skin COSM750465 WHSC1L1 c.960G>T p.A320A Substitution - coding silent Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4767762 SMARCA4 c.3610C>T p.L1204F Substitution - Missense Biliary_tract COSM1312266 TDRD6 c.748G>A p.V250M Substitution - Missense Urinary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4799332 PHRF1 c.2229C>T p.H743H Substitution - coding silent Liver COSM224160 DMAP1 c.424G>A p.E142K Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM228110 KMT2C c.1042G>A p.D348N Substitution - Missense Soft_tissue COSM2692779 CDYL2 c.463G>A p.G155R Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4503209 CHD7 c.6348C>T p.I2116I Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2965379 KDM6A c.2233G>A p.E745K Substitution - Missense Soft_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM255142 MEN1 c.1084_1091delAAGGAGTT p.K362fs*2 Deletion - Frameshift Parathyroid COSM252961 BRD9 c.124delC p.H42fs*18 Deletion - Frameshift Ovary COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5474757 LMNB1 c.549G>A p.Q183Q Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1087659 KMT2C c.947C>G p.T316S Substitution - Missense Prostate COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM942082 MBD6 c.943G>A p.A315T Substitution - Missense Endometrium COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM243681 CHD9 c.5332C>T p.Q1778* Substitution - Nonsense Prostate COSM97174 PRDM1 c.1412A>C p.D471A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3393826 SIRT5 c.617G>A p.R206Q Substitution - Missense Pancreas COSM1473814 ARID1A c.2016G>A p.E672E Substitution - coding silent Breast COSM1318764 CBX7 c.197_198insGAGC p.G68fs*4 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1660730 BAP1 c.92A>T p.E31V Substitution - Missense Kidney COSM1462023 TAF1L c.127G>A p.G43S Substitution - Missense Large_intestine COSM738275 PRDM9 c.1834G>A p.E612K Substitution - Missense Lung COSM3837122 BAZ2B c.5862A>G p.K1954K Substitution - coding silent Breast COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM1412226 EYA2 c.1113C>T p.H371H Substitution - coding silent Large_intestine COSM1617863 BAP1 c.1251-7C>A p.? Unknown Liver COSM3419153 ZMYM1 c.219G>A p.V73V Substitution - coding silent Large_intestine COSM3509570 CREBBP c.391C>T p.P131S Substitution - Missense Skin COSM3108843 GTF3C1 c.4994A>G p.N1665S Substitution - Missense Large_intestine COSM5579764 TRDMT1 c.616C>A p.Q206K Substitution - Missense Skin COSM144519 TET2 c.4303C>T p.Q1435* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1627249 BRDT c.2052A>G p.K684K Substitution - coding silent Liver COSM5611406 TRRAP c.5355_5356CC>TT p.P1786S Substitution - Missense Skin COSM5748877 BAZ2B c.1291C>T p.R431W Substitution - Missense Pancreas COSM5967665 BPTF c.5854G>T p.A1952S Substitution - Missense Upper_aerodigestive_tract COSM21238 TAF1L c.140G>C p.G47A Substitution - Missense Lung COSM970035 SETD1A c.217G>T p.D73Y Substitution - Missense Endometrium COSM12929 TAF1L c.2154G>A p.K718K Substitution - coding silent Lung COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM30787 MEN1 c.1217delA p.D406fs*39 Deletion - Frameshift Retroperitoneum COSM81423 KMT2C c.12048C>T p.S4016S Substitution - coding silent Ovary COSM107398 SETD1A c.929C>T p.S310F Substitution - Missense Skin COSM133672 IDH2 c.516G>C p.R172S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144489 DNMT3A c.1869C>A p.Y623* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Soft_tissue COSM149376 SETD2 c.4376C>T p.P1459L Substitution - Missense Prostate COSM147636 EP400 c.4758A>G p.P1586P Substitution - coding silent Large_intestine COSM216041 TIF1 c.2024C>T p.T675I Substitution - Missense Central_nervous_system COSM255013 KDM6A c.349C>T p.Q117* Substitution - Nonsense Urinary_tract COSM263787 SMCHD1 c.3946C>T p.R1316* Substitution - Nonsense Breast COSM257902 RNF17 c.1216G>T p.E406* Substitution - Nonsense Large_intestine COSM316443 UTY c.1979G>T p.G660V Substitution - Missense Soft_tissue COSM332682 GTF3C1 c.3743A>T p.D1248V Substitution - Missense Lung COSM373716 KMT2C c.7703G>A p.G2568E Substitution - Missense Lung COSM447713 WHSC1 c.3502G>A p.D1168N Substitution - Missense Breast COSM450796 ARID1B c.2739C>G p.N913K Substitution - Missense Breast COSM472553 SUZ12 c.1013T>A p.L338H Substitution - Missense Kidney COSM975861 NCOR1 c.6010A>C p.N2004H Substitution - Missense Endometrium COSM981680 AKAP1 c.498G>A p.K166K Substitution - coding silent Endometrium COSM482775 NIPBL c.5354C>G p.A1785G Substitution - Missense Kidney COSM480353 PBRM1 c.2548C>T p.R850* Substitution - Nonsense Kidney COSM690384 KDM2A c.46G>T p.G16C Substitution - Missense Lung COSM956542 ARID4A c.3438G>A p.P1146P Substitution - coding silent Endometrium COSM1018700 ATAD2B_ENST00000238789 c.272G>A p.R91H Substitution - Missense Endometrium COSM1018700 ATAD2B_ENST00000238789 c.272G>A p.R91H Substitution - Missense Endometrium COSM758311 BRWD3 c.4603G>T p.D1535Y Substitution - Missense Lung COSM708664 BAHCC1 c.1177A>G p.T393A Substitution - Missense Lung COSM907685 ARID1A c.1449_1450insCC p.Y485fs*135 Insertion - Frameshift Endometrium COSM908434 PHC2 c.169G>A p.V57M Substitution - Missense Large_intestine COSM925965 SIRT3 c.1034G>A p.R345Q Substitution - Missense Endometrium COSM948239 TDRD3 c.1667G>T p.W556L Substitution - Missense Endometrium COSM895025 PRDM2 c.4686G>A p.S1562S Substitution - coding silent Upper_aerodigestive_tract COSM996177 SIRT2 c.1021C>A p.L341M Substitution - Missense Endometrium COSM1034992 PHF21B c.197C>T p.A66V Substitution - Missense Endometrium COSM961521 MGA c.5206A>G p.T1736A Substitution - Missense Endometrium COSM961522 MGA c.5522T>C p.V1841A Substitution - Missense Endometrium COSM1072924 NCOA7 c.1029G>A p.S343S Substitution - coding silent Endometrium COSM1074211 SHPRH c.1321+1G>A p.? Unknown Endometrium COSM1124890 TAF1 c.2528G>A p.R843Q Substitution - Missense Endometrium COSM1107413 PSIP1 c.889G>A p.A297T Substitution - Missense Endometrium COSM1128336 YY1 c.759A>G p.E253E Substitution - coding silent Prostate COSM1087531 KMT2C c.12150A>G p.S4050S Substitution - coding silent Endometrium COSM1207674 FXR1 c.1544C>T p.A515V Substitution - Missense Large_intestine COSM1180829 CREBBP c.3250delA p.I1084fs*15 Deletion - Frameshift Large_intestine COSM1200963 CHD3 c.5053C>T p.R1685* Substitution - Nonsense Large_intestine COSM1197041 ORC1 c.934C>T p.P312S Substitution - Missense Lung COSM1266318 SMYD1 c.753C>T p.S251S Substitution - coding silent Oesophagus COSM1226793 SMARCD2 c.659G>A p.R220Q Substitution - Missense Large_intestine COSM1224355 RTF1 c.211C>G p.L71V Substitution - Missense Large_intestine COSM1605809 EP400 c.5159T>A p.V1720D Substitution - Missense Liver COSM1303913 DNMT1 c.541C>G p.Q181E Substitution - Missense Urinary_tract COSM1300057 ZMYM2 c.2056G>A p.E686K Substitution - Missense Urinary_tract COSM1268746 TRRAP c.11140G>A p.G3714R Substitution - Missense Oesophagus COSM1317416 BTAF1 c.5109A>T p.L1703F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1369649 BAZ1A c.3763G>T p.E1255* Substitution - Nonsense Large_intestine COSM1368975 CHD8 c.7112_7113insA p.N2371fs*2 Insertion - Frameshift Breast COSM1360391 ATF7IP c.952_953insA p.N320fs*4 Insertion - Frameshift Large_intestine COSM1583145 DNMT3A c.2678G>T p.W893L Substitution - Missense Skin COSM1620894 L3MBTL3 c.264G>C p.W88C Substitution - Missense Liver COSM1628808 YEATS4 c.426+3A>G p.? Unknown Liver COSM1645719 CHD4 c.4703A>C p.E1568A Substitution - Missense Kidney COSM1679022 SRCAP c.8306A>G p.Q2769R Substitution - Missense Large_intestine COSM1675578 TDRD1 c.2803G>A p.E935K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1752704 KDM3A c.469C>T p.R157* Substitution - Nonsense Urinary_tract COSM1747147 SMARCC2 c.1142-1G>C p.? Unknown Urinary_tract COSM1739642 KAT6B c.5192G>A p.S1731N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1735105 BPTF c.3979G>A p.E1327K Substitution - Missense Pancreas COSM1966275 TAF3 c.2095A>G p.K699E Substitution - Missense Large_intestine COSM2078764 PHC2 c.753C>T p.A251A Substitution - coding silent Cervix COSM2156154 INO80C c.261C>T p.N87N Substitution - coding silent Central_nervous_system COSM2720137 CHD7 c.6956G>A p.R2319H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2772279 TAF1L c.1126G>A p.E376K Substitution - Missense Large_intestine COSM2874978 EYA1 c.26C>T p.P9L Substitution - Missense Skin COSM2874565 NCOA2 c.3985C>T p.R1329* Substitution - Nonsense Breast COSM2960349 WHSC1L1 c.15C>A p.F5L Substitution - Missense Large_intestine COSM3008238 PRDM5 c.465G>A p.A155A Substitution - coding silent Large_intestine COSM3160225 PHF3 c.106G>A p.A36T Substitution - Missense Upper_aerodigestive_tract COSM3214133 BRD3 c.638_639insT p.A216fs*47 Insertion - Frameshift Large_intestine COSM3362954 PRMT1 c.450C>T p.L150L Substitution - coding silent Kidney COSM3358505 PBRM1 c.3058_3059delAG p.S1020fs*1 Deletion - Frameshift Kidney COSM3369432 TDRD5 c.1600G>A p.V534I Substitution - Missense Thyroid COSM3592255 ZCWPW2 c.805T>G p.L269V Substitution - Missense Skin COSM3545293 DNMT3B c.394C>T p.H132Y Substitution - Missense Skin COSM3687439 MTA2 c.1323C>T p.A441A Substitution - coding silent Large_intestine COSM3669183 ATXN7 c.1470A>G p.L490L Substitution - coding silent Liver COSM3762194 PHIP c.3278T>C p.L1093P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3804995 PHC2 c.276G>A p.A92A Substitution - coding silent Breast COSM3798181 HAT1 c.857G>A p.R286Q Substitution - Missense Urinary_tract COSM3868525 KMT2A c.7712C>T p.A2571V Substitution - Missense Skin COSM3928620 PHIP c.4895C>G p.S1632* Substitution - Nonsense Central_nervous_system COSM3935124 JMJD1C c.3094C>G p.P1032A Substitution - Missense Oesophagus COSM3819991 MBTD1 c.1099G>A p.E367K Substitution - Missense Breast COSM3819993 MBTD1 c.467A>G p.E156G Substitution - Missense Breast COSM3889353 NCOR1 c.1763C>T p.S588F Substitution - Missense Skin COSM3947301 NSD1 c.1433C>G p.S478* Substitution - Nonsense Lung COSM3956640 TP53BP1 c.5243G>A p.R1748H Substitution - Missense Lung COSM4015084 JMJD1C c.6595C>T p.R2199C Substitution - Missense Stomach COSM4038171 HCFC2 c.1231+2T>C p.? Unknown Stomach COSM4042401 KMT2D c.2876C>T p.P959L Substitution - Missense Prostate COSM4097816 NCOA6 c.513A>G p.P171P Substitution - coding silent Stomach COSM4061204 CHD9 c.8178G>T p.L2726F Substitution - Missense Stomach COSM4072241 SETBP1 c.2492C>A p.P831Q Substitution - Missense Stomach COSM4057176 MORF4L1 c.894A>G p.G298G Substitution - coding silent Stomach COSM4151681 AKAP1 c.1242G>A p.P414P Substitution - coding silent Kidney COSM4162020 KMT2C c.2189C>A p.S730Y Substitution - Missense Upper_aerodigestive_tract COSM4385931 ACTR8 c.779-2_779-1insC p.? Unknown Large_intestine COSM4384870 CREBBP c.3829C>G p.P1277A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4407937 KMT2C c.5668C>T p.R1890* Substitution - Nonsense Pancreas COSM4419702 NSD1 c.1482C>T p.C494C Substitution - coding silent Soft_tissue COSM4444750 HAT1 c.116G>A p.R39H Substitution - Missense Large_intestine COSM4433854 PRDM15 c.2323A>G p.S775G Substitution - Missense Oesophagus COSM4448238 BAHCC1 c.2460C>T p.P820P Substitution - coding silent Skin COSM4767392 ATRX c.6825G>A p.W2275* Substitution - Nonsense Autonomic_ganglia COSM4725218 SETMAR c.747C>A p.A249A Substitution - coding silent Large_intestine COSM4689690 HDAC5 c.165C>T p.S55S Substitution - coding silent Large_intestine COSM4625110 DHX30 c.2618G>A p.R873H Substitution - Missense Large_intestine COSM4791807 PRDM9 c.1451T>C p.M484T Substitution - Missense Liver COSM4802465 DIDO1 c.4581G>A p.S1527S Substitution - coding silent Liver COSM4885848 KDM6B c.113G>T p.R38L Substitution - Missense Upper_aerodigestive_tract COSM4889826 KDM3B c.4190G>T p.S1397I Substitution - Missense Upper_aerodigestive_tract COSM4890949 MGA c.8884G>T p.E2962* Substitution - Nonsense Upper_aerodigestive_tract COSM4918204 BAG6 c.1998G>T p.Q666H Substitution - Missense Liver COSM4925399 MECOM c.2196C>T p.R732R Substitution - coding silent Liver COSM4955112 TRIM66 c.83C>G p.S28C Substitution - Missense Liver COSM4956465 ARID1B c.5776C>T p.R1926* Substitution - Nonsense Liver COSM4991218 SMARCA4 c.808C>T p.P270S Substitution - Missense Skin COSM4989796 TDRD6 c.2114A>G p.E705G Substitution - Missense Soft_tissue COSM4985618 PRDM9 c.2137A>G p.T713A Substitution - Missense Soft_tissue COSM5027588 KMT2D c.12329delC p.P4110fs*4 Deletion - Frameshift Breast COSM5019699 HNF1A c.864G>C p.G288G Substitution - coding silent Liver COSM5020165 KAT6B c.3235_3246del12 p.E1086_E1089delEEEE Deletion - In frame Skin COSM5092671 BRD3 c.71_72insC p.E25fs*51 Insertion - Frameshift Large_intestine COSM5045444 TAF1L c.1113G>A p.M371I Substitution - Missense Oesophagus COSM5398291 ZBTB38 c.869T>A p.L290* Substitution - Nonsense Skin COSM5417675 MGA c.2721_2722delCA p.F907fs*5 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5452493 KDM4B c.1149G>A p.P383P Substitution - coding silent Large_intestine COSM5420431 RNF17 c.549A>G p.R183R Substitution - coding silent Pancreas COSM5722579 RAI1 c.292C>T p.P98S Substitution - Missense Skin COSM5733712 BAHCC1 c.766G>A p.V256M Substitution - Missense Pancreas COSM5718000 SMARCA4 c.1902C>T p.P634P Substitution - coding silent Skin COSM5768289 TBL1XR1 c.557C>T p.S186L Substitution - Missense Breast COSM5663468 PHF15 c.1422G>A p.Q474Q Substitution - coding silent Soft_tissue COSM5787189 HDAC6 c.3625G>T p.E1209* Substitution - Nonsense Breast COSM5783837 CBX4 c.280A>T p.T94S Substitution - Missense Breast COSM5818372 AIRE c.778G>A p.G260R Substitution - Missense Liver COSM5945507 KDM6A c.2257C>T p.Q753* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5894708 PRDM15 c.3421G>T p.E1141* Substitution - Nonsense Skin COSM5988090 MYST3 c.4219A>G p.I1407V Substitution - Missense Salivary_gland COSM5979531 CHD7 c.694C>A p.P232T Substitution - Missense Upper_aerodigestive_tract COSM5996575 PHF3 c.2578G>A p.G860R Substitution - Missense Prostate COSM5995012 BRPF1 c.1672C>T p.R558C Substitution - Missense Prostate COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM132899 TET2 c.(1204_1206)insA p.?fs Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3519929 AKAP1 c.740A>T p.K247M Substitution - Missense Skin COSM3667363 ASH1L c.4091C>T p.P1364L Substitution - Missense Liver COSM146266 CHD2 c.2094delC p.R699fs*35 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2259834 BRDT c.587C>T p.S196L Substitution - Missense Cervix COSM3989174 AKAP1 c.452C>T p.S151F Substitution - Missense Kidney COSM3672611 CHD3 c.3528C>T p.A1176A Substitution - coding silent Prostate COSM5768933 HDAC8 c.349G>T p.G117W Substitution - Missense Breast COSM1678964 CCDC101 c.179G>A p.R60H Substitution - Missense Large_intestine COSM120166 TET2 c.679G>T p.E227* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM955458 BAZ1A c.3695A>G p.D1232G Substitution - Missense Endometrium COSM1357119 RSF1 c.3624G>A p.R1208R Substitution - coding silent Large_intestine COSM3550999 PRDM15 c.538C>T p.P180S Substitution - Missense Skin COSM451715 PHF3 c.5560C>T p.P1854S Substitution - Missense Breast COSM1184401 BAHCC1 c.5187G>T p.K1729N Substitution - Missense Large_intestine COSM3525866 SETBP1 c.2592G>A p.T864T Substitution - coding silent Skin COSM4954686 MLL5 c.4212A>G p.L1404L Substitution - coding silent Liver COSM1719244 KDM4A c.1148G>T p.G383V Substitution - Missense Skin COSM743050 PHIP c.1336A>G p.M446V Substitution - Missense Lung COSM3670406 TAF1L c.4389G>A p.E1463E Substitution - coding silent Central_nervous_system COSM4059660 GTF3C1 c.976A>G p.T326A Substitution - Missense Stomach COSM4961926 TBL1XR1 c.331G>T p.A111S Substitution - Missense Pancreas COSM1606198 KMT2D c.15046G>A p.E5016K Substitution - Missense Liver COSM3793574 PRMT5 c.996C>G p.I332M Substitution - Missense Urinary_tract COSM1253000 GABRG1 c.236T>G p.L79R Substitution - Missense Oesophagus COSM4113236 RUVBL1 c.436C>T p.P146S Substitution - Missense Skin COSM4392065 ZMYM4 c.4429C>T p.L1477L Substitution - coding silent Skin COSM1180856 CBX8 c.942delC p.S315fs*41 Deletion - Frameshift Large_intestine COSM5907581 PHRF1 c.1616C>T p.S539F Substitution - Missense Skin COSM3376274 KMT2D c.10058A>G p.Q3353R Substitution - Missense Pancreas COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM5747351 KDM5A c.3029C>T p.A1010V Substitution - Missense Pancreas COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5028928 KDM5C c.2090T>C p.F697S Substitution - Missense Breast COSM280816 EP400 c.3560G>A p.R1187H Substitution - Missense Stomach COSM5993303 SETDB1 c.3658C>T p.R1220C Substitution - Missense Prostate COSM221042 KMT2D c.14960A>T p.D4987V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1179107 KMT2C c.851G>A p.R284Q Substitution - Missense Large_intestine COSM1313461 TRRAP c.3423C>T p.I1141I Substitution - coding silent Urinary_tract COSM1458067 NCOA2 c.3325A>G p.S1109G Substitution - Missense Large_intestine COSM1220373 PHF21A c.1841C>T p.P614L Substitution - Missense Large_intestine COSM4941865 PRDM16 c.2339A>G p.K780R Substitution - Missense Liver COSM961213 BAHD1 c.1648C>T p.R550C Substitution - Missense Endometrium COSM463807 RBBP5 c.758C>A p.P253Q Substitution - Missense Kidney COSM211771 ARID1A c.2023_2032del10 p.N675fs*64 Deletion - Frameshift Endometrium COSM1290818 ASXL3 c.2433G>A p.E811E Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3879521 KMT2C c.11613C>T p.D3871D Substitution - coding silent Stomach COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM3656841 TAF1L c.3813G>A p.K1271K Substitution - coding silent Skin COSM5372044 PRDM10 c.188G>T p.G63V Substitution - Missense Skin COSM4496891 DIDO1 c.4850C>T p.S1617F Substitution - Missense Skin COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM2191123 RAD54L c.1560G>A p.S520S Substitution - coding silent Large_intestine COSM5990069 EZH2 c.1545delG p.D516fs*27 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3368678 SIRT4 c.290G>A p.R97Q Substitution - Missense Thyroid COSM2175439 HNF1A c.481G>A p.A161T Substitution - Missense Prostate COSM1319411 BRWD3 c.1118A>G p.N373S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1241006 CHD8 c.6130C>T p.R2044* Substitution - Nonsense Oesophagus COSM5781496 STK31 c.480T>A p.D160E Substitution - Missense Breast COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1679016 SRCAP c.2162G>C p.C721S Substitution - Missense Large_intestine COSM2720158 CHD7 c.8141C>T p.A2714V Substitution - Missense Pancreas COSM4593742 AP001011.3_ENST00000320876 c.35C>G p.A12G Substitution - Missense Upper_aerodigestive_tract COSM4171090 EP300 c.89G>A p.G30D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4559361 SRCAP c.8023G>A p.E2675K Substitution - Missense Skin COSM3731176 SRCAP c.3585A>G p.Q1195Q Substitution - coding silent Stomach COSM3845307 ZMYM3 c.2214G>C p.Q738H Substitution - Missense Breast COSM5760892 MORF4L1 c.792C>A p.F264L Substitution - Missense Pancreas COSM3393794 NCOA7 c.242G>A p.R81H Substitution - Missense Oesophagus COSM4807405 HCFC1 c.4810C>A p.Q1604K Substitution - Missense Pancreas COSM3739525 ATF7IP c.2160A>G p.V720V Substitution - coding silent Liver COSM5812316 EHMT1 c.2613A>T p.R871R Substitution - coding silent Liver COSM5024298 SMARCA4 c.1337C>A p.S446Y Substitution - Missense Bone COSM970127 MYST1 c.507G>T p.E169D Substitution - Missense Large_intestine COSM1662866 MSL3 c.250C>T p.R84C Substitution - Missense Kidney COSM43414 TET2 c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM255663 ZMYM3 c.1939C>T p.R647* Substitution - Nonsense Central_nervous_system COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1318622 TET2 c.3343delC p.P1115fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3259639 EZH2 c.1680C>A p.N560K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM309266 ARID1B c.2493T>A p.A831A Substitution - coding silent Soft_tissue COSM3089635 EHMT1 c.1144G>A p.E382K Substitution - Missense Stomach COSM1753989 BRD8 c.671C>T p.S224F Substitution - Missense Upper_aerodigestive_tract COSM4144250 BRDT c.714A>C p.K238N Substitution - Missense Thyroid COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1314179 NCOA2 c.1951C>T p.Q651* Substitution - Nonsense Urinary_tract COSM4831495 HDGFL1 c.403G>T p.D135Y Substitution - Missense Cervix COSM3501417 TP53BP1 c.4362T>A p.A1454A Substitution - coding silent Skin COSM5151385 SETD5_ENST00000402198 c.3550G>A p.V1184I Substitution - Missense Large_intestine COSM5041182 SMARCA2 c.2561A>G p.H854R Substitution - Missense Liver COSM2802804 CBX8 c.570C>T p.S190S Substitution - coding silent Large_intestine COSM1221882 PRDM16 c.191A>G p.E64G Substitution - Missense Large_intestine COSM1258835 NCOA1 c.1538C>T p.S513L Substitution - Missense Oesophagus COSM373883 FMR1 c.224A>T p.E75V Substitution - Missense Lung COSM3017708 SHPRH c.267T>C p.V89V Substitution - coding silent Large_intestine COSM4388741 SETBP1 c.3561C>T p.S1187S Substitution - coding silent Pancreas COSM5945402 ASXL1 c.1471C>T p.Q491* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM383002 ACTA1 c.367C>A p.Q123K Substitution - Missense Lung COSM1188972 MGA c.8077G>T p.D2693Y Substitution - Missense Lung COSM254841 NCOR1 c.4349C>T p.S1450L Substitution - Missense Urinary_tract COSM1030950 PRDM15 c.521G>A p.R174H Substitution - Missense Endometrium COSM549397 MBD6 c.842A>C p.H281P Substitution - Missense Endometrium COSM4043669 BAZ2A_ENST00000379441 c.4013C>T p.P1338L Substitution - Missense Stomach COSM1088806 CBX3 c.128G>A p.G43E Substitution - Missense Endometrium COSM1081859 PHIP c.3289G>C p.D1097H Substitution - Missense Endometrium COSM3731967 KMT2C c.3654G>T p.Q1218H Substitution - Missense Stomach COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3883762 TRRAP c.8841C>T p.H2947H Substitution - coding silent Stomach COSM5450668 ATRX c.7112C>T p.A2371V Substitution - Missense Large_intestine COSM1363347 MBD6 c.2194delC p.Q734fs*18 Deletion - Frameshift Small_intestine COSM4402555 KIAA2026_ENST00000399933 c.1227A>C p.E409D Substitution - Missense Skin COSM3528109 DNMT1 c.1052C>T p.P351L Substitution - Missense Skin COSM144697 PHF6 c.? p.K235* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4015921 KAT6B c.4190C>T p.T1397M Substitution - Missense Stomach COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM23016 MEN1 c.? p.W341* Substitution - Nonsense Parathyroid COSM4481469 ATF7IP c.2510C>T p.S837F Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5705464 KDM4A c.2866C>T p.P956S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5606646 JHDM1D c.784C>T p.P262S Substitution - Missense Skin COSM1965082 KAT6B c.1141T>A p.C381S Substitution - Missense Upper_aerodigestive_tract COSM1333447 PRDM2 c.834A>T p.E278D Substitution - Missense Large_intestine COSM3719017 DNMT1 c.30G>T p.V10V Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3972580 NCOA3 c.2525C>G p.S842* Substitution - Nonsense Central_nervous_system COSM5900351 NCOR1 c.847C>T p.Q283* Substitution - Nonsense Skin COSM5063685 PRDM12 c.837C>T p.R279R Substitution - coding silent Stomach COSM177345 ZMYM4 c.4337G>A p.R1446Q Substitution - Missense Large_intestine COSM1245441 ARID1A c.6418_6428del11 p.F2141fs*5 Deletion - Frameshift Oesophagus COSM4778409 POGZ c.2313A>G p.V771V Substitution - coding silent Liver COSM4130812 BAHCC1 c.2921C>A p.T974N Substitution - Missense Thyroid COSM6004625 DIDO1 c.4156G>A p.D1386N Substitution - Missense Prostate COSM3883734 TRRAP c.5430G>C p.L1810L Substitution - coding silent Stomach COSM3656102 EHMT1 c.3756G>A p.E1252E Substitution - coding silent Skin COSM5391810 ASXL1 c.3635C>T p.S1212F Substitution - Missense Skin COSM302732 NCOA6 c.795A>G p.Q265Q Substitution - coding silent Central_nervous_system COSM932200 RSF1 c.2552G>A p.R851H Substitution - Missense Endometrium COSM1420704 TBL1XR1 c.1108G>A p.D370N Substitution - Missense Large_intestine COSM3704144 ARID2 c.961C>T p.H321Y Substitution - Missense Liver COSM465904 SFMBT2 c.1940A>C p.E647A Substitution - Missense Kidney COSM3438392 ERCC6 c.789C>T p.I263I Substitution - coding silent Skin COSM3877191 PHF14 c.1851A>C p.A617A Substitution - coding silent Stomach COSM3716082 EYA1 c.948C>T p.P316P Substitution - coding silent Stomach COSM4808707 ARID1A c.5918G>A p.W1973* Substitution - Nonsense Pancreas COSM4950811 NCOR1 c.6050A>G p.Y2017C Substitution - Missense Liver COSM5429598 NCOA6 c.1235C>G p.S412C Substitution - Missense Oesophagus COSM30580 SMARCA4 c.4007G>A p.R1336H Substitution - Missense Large_intestine COSM4492737 BAZ2A c.4136C>T p.S1379F Substitution - Missense Skin COSM5377571 SETDB1 c.3382G>A p.V1128I Substitution - Missense Skin COSM3841915 BRWD1 c.5436C>G p.F1812L Substitution - Missense Breast COSM4146853 EP400 c.6646A>C p.T2216P Substitution - Missense Thyroid COSM1075364 ARID1B c.6049C>T p.L2017L Substitution - coding silent Endometrium COSM4413481 KMT2A c.9338G>A p.S3113N Substitution - Missense Genital_tract COSM2169530 SCMH1 c.287C>T p.T96M Substitution - Missense Stomach COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5929715 CHD3 c.4838G>A p.R1613K Substitution - Missense Skin COSM1262943 PRDM13 c.1432G>A p.A478T Substitution - Missense Oesophagus COSM3096934 ATRX c.7269G>A p.Q2423Q Substitution - coding silent Large_intestine COSM4515377 TRRAP c.10688_10689CC>TT p.S3563F Substitution - Missense Skin COSM1644335 ARID1A c.5541_5542insG p.D1850fs*4 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5506096 BAP1 c.233delA p.N78fs*9 Deletion - Frameshift Biliary_tract COSM688112 PRDM11 c.1309C>G p.H437D Substitution - Missense Lung COSM1027546 NCOA3 c.3786G>A p.Q1262Q Substitution - coding silent Large_intestine COSM1034779 TCF20 c.939G>A p.Q313Q Substitution - coding silent Endometrium COSM1039191 ZBTB38 c.321C>T p.L107L Substitution - coding silent Stomach COSM5475330 HCFC1 c.2854G>A p.V952I Substitution - Missense Large_intestine COSM1216865 NCOA6 c.3976C>T p.P1326S Substitution - Missense Large_intestine COSM695866 ZMYM5 c.742A>G p.K248E Substitution - Missense Lung COSM3488260 PRDM16 c.3614C>T p.A1205V Substitution - Missense Skin COSM563420 ASXL3 c.1275G>A p.P425P Substitution - coding silent Large_intestine COSM4767387 IDH1 c.? p.S326P Substitution - Missense Large_intestine COSM528034 PRDM2 c.3021C>T p.C1007C Substitution - coding silent Large_intestine COSM4717895 PRMT7 c.325delA p.N110fs*17 Deletion - Frameshift Large_intestine COSM1315843 ASXL1 c.2988_2989insT p.E997fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5754361 LBR c.1592G>A p.G531E Substitution - Missense Large_intestine COSM4603246 RNF134 c.84_85insGCCTCC p.P28_V29insAS Insertion - In frame Upper_aerodigestive_tract COSM3835411 KDM4B c.355G>T p.E119* Substitution - Nonsense Breast COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM910293 RAD54L c.4-1G>C p.? Unknown Endometrium COSM1381141 NCOR1 c.100C>A p.H34N Substitution - Missense Large_intestine COSM1013372 TET2 c.4070_4071delAG p.E1357fs*43 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28788 KDM6A c.3445_3446delAA p.N1149fs*1 Deletion - Frameshift Kidney COSM323495 SMYD3 c.754G>T p.A252S Substitution - Missense Lung COSM1616094 PRDM15 c.257C>G p.P86R Substitution - Missense Biliary_tract COSM1079913 TDRD6 c.5305C>T p.R1769C Substitution - Missense Autonomic_ganglia COSM2270961 TET2 c.4115C>T p.T1372I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5427312 SMYD2 c.423A>G p.L141L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1660000 PBRM1 c.3698_3704delGTGCTGT p.A1234fs*33 Deletion - Frameshift Kidney COSM5708581 TBL1XR1 c.974G>T p.C325F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4742927 ZMYM4 c.3031-1G>T p.? Unknown Large_intestine COSM4850489 MBD6 c.1031G>A p.R344Q Substitution - Missense Cervix COSM3554889 EP300 c.3641C>T p.S1214F Substitution - Missense Skin COSM5768176 MBD6 c.114T>G p.S38R Substitution - Missense Breast COSM282117 KDM3B c.4808T>G p.I1603S Substitution - Missense Large_intestine COSM1658758 TET2 c.3356T>G p.L1119* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4636621 BAHD1 c.1498G>A p.A500T Substitution - Missense Biliary_tract COSM3080143 ZCWPW1 c.960C>T p.I320I Substitution - coding silent Skin COSM5382061 CHD8 c.825G>A p.L275L Substitution - coding silent Skin COSM27533 MSH6 c.? p.Q835* Substitution - Nonsense Central_nervous_system COSM26723 MSH6 c.3023C>T p.T1008I Substitution - Missense Skin COSM4560081 PRDM9 c.829G>A p.E277K Substitution - Missense Skin COSM23057 MEN1 c.? p.H433P Substitution - Missense Small_intestine COSM51978 BAP1 c.757C>T p.Q253* Substitution - Nonsense Oesophagus COSM1716182 EZH2 c.? p.A692V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1671898 KDM3B c.2743C>T p.R915C Substitution - Missense Large_intestine COSM3080143 ZCWPW1 c.960C>T p.I320I Substitution - coding silent Skin COSM1188479 HDAC7 c.1201C>T p.R401W Substitution - Missense Lung COSM5996428 NSD1 c.4579G>T p.A1527S Substitution - Missense Prostate COSM1375550 CHD2 c.3440G>A p.G1147D Substitution - Missense Large_intestine COSM3916747 SETD5_ENST00000402198 c.1715C>T p.S572L Substitution - Missense Skin COSM3972511 DNMT3B c.132G>A p.P44P Substitution - coding silent Central_nervous_system COSM5471246 DIDO1 c.160C>T p.Q54* Substitution - Nonsense Large_intestine COSM4489439 BRWD3 c.3476C>T p.S1159F Substitution - Missense Skin COSM3464417 CHD4 c.92C>T p.P31L Substitution - Missense Skin COSM1034568 EP300 c.4512C>T p.F1504F Substitution - coding silent Large_intestine COSM5061287 PRDM13 c.357C>T p.F119F Substitution - coding silent Stomach COSM4410598 PBRM1 c.1168_1169insT p.Y390fs*2 Insertion - Frameshift Kidney COSM4665215 BAZ2A_ENST00000379441 c.5577G>A p.A1859A Substitution - coding silent Large_intestine COSM5720268 TET2 c.5665C>T p.P1889S Substitution - Missense Skin COSM5767523 KMT2C c.3364G>C p.E1122Q Substitution - Missense Breast COSM48575 MSH6 c.3101G>A p.R1034Q Substitution - Missense Lung COSM5364882 SMARCA4 c.3798C>T p.S1266S Substitution - coding silent Large_intestine COSM1386334 ZBTB4 c.1393C>T p.P465S Substitution - Missense Large_intestine COSM86968 IKZF1 c.? p.L117fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM1186904 DUSP1 c.116A>T p.H39L Substitution - Missense Lung COSM2105598 KMT2A c.9310T>C p.L3104L Substitution - coding silent Stomach COSM1360187 EP400 c.8184G>A p.Q2728Q Substitution - coding silent Large_intestine COSM4015480 SFMBT2 c.2528A>C p.K843T Substitution - Missense Stomach COSM5357611 ARID1B c.4859G>A p.R1620H Substitution - Missense Large_intestine COSM5064532 HCFC1 c.2248C>T p.R750C Substitution - Missense Skin COSM4957381 BPTF c.643C>G p.R215G Substitution - Missense Liver COSM211751 TET2 c.5711A>G p.H1904R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4759860 PRDM1 c.1015G>A p.A339T Substitution - Missense Stomach COSM5001465 FXR1 c.304A>G p.T102A Substitution - Missense Pancreas COSM4591023 KMT2C c.871C>T p.L291F Substitution - Missense Oesophagus COSM3963631 NCOA3 c.3002C>A p.A1001E Substitution - Missense Lung COSM4387436 BAP1 c.723T>A p.Y241* Substitution - Nonsense Eye COSM3748796 RUVBL1 c.616T>G p.C206G Substitution - Missense Stomach COSM3818085 CHD9 c.2143G>C p.E715Q Substitution - Missense Breast COSM1180805 CHD8 c.5585delC p.P1862fs*29 Deletion - Frameshift Large_intestine COSM1744863 BAP1 c.698delT p.V233fs*16 Deletion - Frameshift Biliary_tract COSM3954429 EP400 c.9120G>A p.A3040A Substitution - coding silent Lung COSM140099 CTCF c.1369C>T p.R457* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4167285 TET2 c.? p.I540fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM4456748 CDYL c.1182C>A p.A394A Substitution - coding silent Skin COSM3739510 EP400 c.5668A>G p.M1890V Substitution - Missense Liver COSM1043294 KAT2B c.2027G>T p.R676I Substitution - Missense Endometrium COSM5597705 TCF20 c.3761G>A p.R1254K Substitution - Missense Skin COSM1114773 SMARCA1 c.2685C>A p.V895V Substitution - coding silent Endometrium COSM3844854 HDAC6 c.1855G>T p.G619C Substitution - Missense Breast COSM905241 ACTA1 c.564C>A p.T188T Substitution - coding silent Endometrium COSM1131371 ACTR8 c.1516G>T p.G506* Substitution - Nonsense Prostate COSM243232 BRD9 c.71C>T p.P24L Substitution - Missense Prostate COSM5475737 ZMYM4 c.2785G>A p.A929T Substitution - Missense Large_intestine COSM307763 TET2 c.? p.S794* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3426320 NCOA1 c.197A>C p.K66T Substitution - Missense Large_intestine COSM3772639 KMT2D c.3262C>T p.Q1088* Substitution - Nonsense Pancreas COSM4749789 BRPF1 c.583C>T p.P195S Substitution - Missense Stomach COSM921432 BTAF1 c.2635A>C p.K879Q Substitution - Missense Endometrium COSM3509550 CREBBP c.7005C>T p.I2335I Substitution - coding silent Skin COSM144218 ATRX c.4179_4182delTAGT p.S1394fs*95 Deletion - Frameshift Central_nervous_system COSM338697 MBD5 c.3296G>T p.G1099V Substitution - Missense Lung COSM5813789 CHD9 c.5165A>T p.Q1722L Substitution - Missense Liver COSM4695055 KDM6B c.3092G>A p.R1031H Substitution - Missense Large_intestine COSM1301597 CHD2 c.4291G>T p.D1431Y Substitution - Missense Urinary_tract COSM79057 SMARCA1 c.757C>T p.R253* Substitution - Nonsense Ovary COSM5100802 ZMYM3 c.1757_1758insG p.I587fs*17 Insertion - Frameshift Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1311413 CHD1 c.683A>G p.D228G Substitution - Missense Urinary_tract COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM396367 PRDM10 c.1560G>A p.R520R Substitution - coding silent Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1748362 PRDM16 c.3724G>A p.E1242K Substitution - Missense Urinary_tract COSM228110 KMT2C c.1042G>A p.D348N Substitution - Missense Upper_aerodigestive_tract COSM278971 ARID2 c.940C>T p.R314C Substitution - Missense Skin COSM1187514 ELP3 c.508A>T p.M170L Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5711655 KDM6A c.2512_2515delACAA p.N839fs*27 Deletion - Frameshift Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4422879 IDH2 c.23T>C p.V8A Substitution - Missense Kidney COSM3943596 PRMT3 c.34C>T p.R12W Substitution - Missense Ovary COSM3829522 ARID1B c.4572G>A p.T1524T Substitution - coding silent Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM464742 ORC1 c.1769A>G p.Q590R Substitution - Missense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM302137 EP400 c.8181A>G p.Q2727Q Substitution - coding silent Central_nervous_system COSM983880 PHF23 c.115A>C p.S39R Substitution - Missense Endometrium COSM302137 EP400 c.8181A>G p.Q2727Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5076278 PHC3 c.2774_2775delAG p.Q925fs*3 Deletion - Frameshift Large_intestine COSM5685905 PHF21A c.1289-2A>T p.? Unknown Soft_tissue COSM87007 DNMT3A c.2711C>T p.P904L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5865527 TET2 c.1067C>T p.S356F Substitution - Missense Skin COSM4723966 SCMH1 c.440delG p.G147fs*34 Deletion - Frameshift Large_intestine COSM940006 KMT2D c.11349T>C p.T3783T Substitution - coding silent Endometrium COSM86978 IKZF1 c.41-?_715+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4405403 SETBP1 c.3780G>A p.T1260T Substitution - coding silent Skin COSM1080944 PHF3 c.547G>T p.E183* Substitution - Nonsense Endometrium COSM4440713 TBL1XR1 c.229C>A p.P77T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM110784 TET2 c.4757C>A p.S1586* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4384298 EZH2 c.437T>A p.I146N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3858047 NCOA7 c.2559C>G p.F853L Substitution - Missense Stomach COSM5901456 PHF3 c.5630G>A p.R1877K Substitution - Missense Skin COSM124514 MTA2 c.1409G>T p.R470M Substitution - Missense Upper_aerodigestive_tract COSM4975665 KMT2D c.10156C>T p.R3386C Substitution - Missense Skin COSM2688051 NIPBL c.7473C>T p.S2491S Substitution - coding silent Large_intestine COSM4169950 DNMT3A c.1106T>A p.I369N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM339102 BRWD1 c.5554G>T p.D1852Y Substitution - Missense Lung COSM5997291 TRIM24 c.1657C>A p.P553T Substitution - Missense Prostate COSM5748877 BAZ2B c.1291C>T p.R431W Substitution - Missense Pancreas COSM266052 ASXL1 c.2110delG p.E705fs*20 Deletion - Frameshift Large_intestine COSM1167991 ARID2 c.890C>T p.S297F Substitution - Missense Skin COSM26516 RUVBL1 c.306C>T p.Y102Y Substitution - coding silent Skin COSM21476 HNF1A c.82C>T p.Q28* Substitution - Nonsense Skin COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13392 MSH6 c.2410A>T p.K804* Substitution - Nonsense Endometrium COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Endometrium COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41714 ASXL1 c.3797_3812del16 p.L1266fs*9 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM107494 TRRAP c.2165C>T p.S722F Substitution - Missense Skin COSM117170 RBBP7 c.889G>T p.V297L Substitution - Missense Ovary COSM87104 TET2 c.2474C>G p.S825* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM112121 PRDM2 c.2104_2105insCTC p.P703_A704insP Insertion - In frame Ovary COSM144223 ATRX c.4276C>T p.R1426* Substitution - Nonsense Endometrium COSM148423 SETBP1 c.3301G>A p.V1101I Substitution - Missense Soft_tissue COSM196271 CBX8 c.1155delT p.F385fs*>5 Deletion - Frameshift Large_intestine COSM211772 ARID1A c.2368C>T p.Q790* Substitution - Nonsense Endometrium COSM223079 PHF1 c.872G>A p.G291E Substitution - Missense Skin COSM243135 ATRX c.2452G>C p.D818H Substitution - Missense Prostate COSM247317 SHPRH c.1333A>G p.M445V Substitution - Missense Prostate COSM241261 PRMT10 c.1836A>C p.K612N Substitution - Missense Prostate COSM254629 CREBBP c.3217C>T p.Q1073* Substitution - Nonsense Urinary_tract COSM254811 KMT2A c.4437C>G p.C1479W Substitution - Missense Urinary_tract COSM253678 BPTF c.6673A>C p.T2225P Substitution - Missense Urinary_tract COSM284709 RSF1 c.3448C>T p.R1150* Substitution - Nonsense Large_intestine COSM279113 BAP1 c.896A>G p.N299S Substitution - Missense Large_intestine COSM309888 CCDC101 c.673G>A p.E225K Substitution - Missense Lung COSM318354 EP300 c.3410G>T p.R1137L Substitution - Missense Lung COSM327337 TET2 c.2599T>C p.Y867H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM375016 SETBP1 c.2111C>A p.A704D Substitution - Missense Lung COSM421532 KMT2C c.10600C>T p.Q3534* Substitution - Nonsense Urinary_tract COSM422745 PBRM1 c.172C>T p.R58* Substitution - Nonsense Large_intestine COSM458069 ATRX c.6589C>T p.R2197C Substitution - Missense Autonomic_ganglia COSM985849 BAHCC1 c.2661C>T p.P887P Substitution - coding silent Endometrium COSM987371 AP001011.3_ENST00000320876 c.94G>C p.D32H Substitution - Missense Endometrium COSM480456 PBRM1 c.286A>T p.K96* Substitution - Nonsense Kidney COSM534555 ARID1A c.1303C>T p.Q435* Substitution - Nonsense Endometrium COSM916612 SUV39H2 c.572C>T p.S191L Substitution - Missense Endometrium COSM689194 MTA2 c.1746G>C p.G582G Substitution - coding silent Lung COSM1046995 BAP1 c.1069C>A p.L357M Substitution - Missense Endometrium COSM953999 MTA1 c.630C>T p.I210I Substitution - coding silent Endometrium COSM1026104 NCOA6 c.1305C>T p.F435F Substitution - coding silent Skin COSM747169 BAZ1B c.819C>T p.V273V Substitution - coding silent Lung COSM757133 SUV39H1 c.856C>T p.R286W Substitution - Missense Lung COSM703029 CREBBP c.2827C>T p.Q943* Substitution - Nonsense Lung COSM734365 GABRG1 c.209C>T p.S70L Substitution - Missense Skin COSM927031 PRDM11 c.1366C>T p.R456W Substitution - Missense Endometrium COSM1000723 EZH2 c.1876G>A p.V626M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1073482 EYA4 c.454C>G p.L152V Substitution - Missense Endometrium COSM3724472 ARID1A c.5336A>G p.E1779G Substitution - Missense Pancreas COSM1108532 KIAA1045 c.743C>T p.A248V Substitution - Missense Endometrium COSM1116476 FMR1 c.1673G>A p.R558Q Substitution - Missense Endometrium COSM1131918 EHMT2 c.50C>A p.A17D Substitution - Missense Prostate COSM1100843 CHD7 c.5604A>G p.I1868M Substitution - Missense Endometrium COSM1246255 BRWD1 c.937C>T p.R313C Substitution - Missense Oesophagus COSM1251233 EP400 c.8176_8178delCAA p.Q2748delQ Deletion - In frame Oesophagus COSM1162976 RSF1 c.1392T>C p.F464F Substitution - coding silent Pancreas COSM1204463 DOT1L c.583G>A p.A195T Substitution - Missense Large_intestine COSM1159828 SMARCA4 c.2644G>A p.E882K Substitution - Missense Skin COSM1188902 SETD3 c.567T>A p.F189L Substitution - Missense Lung COSM1312339 PHF3 c.391C>T p.R131C Substitution - Missense Urinary_tract COSM1394650 KDM4B c.2208C>T p.G736G Substitution - coding silent Large_intestine COSM1362059 KMT2D c.1793G>A p.R598H Substitution - Missense Upper_aerodigestive_tract COSM1607322 YY1 c.206_207insCCA p.H80_P81insH Insertion - In frame Liver COSM1479743 MBTD1 c.1224C>G p.V408V Substitution - coding silent Breast COSM1609223 MYST1 c.997A>G p.I333V Substitution - Missense Liver COSM1579211 DNMT1 c.1147A>G p.N383D Substitution - Missense Breast COSM1625994 PHF8 c.508A>G p.M170V Substitution - Missense Liver COSM1623078 BAZ1B c.579A>T p.R193S Substitution - Missense Liver COSM1628570 PRMT8 c.261+7T>C p.? Unknown Liver COSM1668759 DNMT3A c.2283G>A p.M761I Substitution - Missense Large_intestine COSM1679475 ZBTB4 c.766T>C p.C256R Substitution - Missense Large_intestine COSM1723061 DIDO1 c.4927_4928insC p.R1643fs*37 Insertion - Frameshift Thyroid COSM1699418 TIF1 c.1981G>A p.G661R Substitution - Missense Skin COSM1748567 PHF13 c.600C>T p.I200I Substitution - coding silent Skin COSM1748623 RERE c.1261G>A p.E421K Substitution - Missense Urinary_tract COSM1749560 SRCAP c.1399G>T p.E467* Substitution - Nonsense Urinary_tract COSM1756604 HDAC6 c.2907T>G p.D969E Substitution - Missense Urinary_tract COSM1724984 TET2 c.3765C>A p.Y1255* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1970729 HELLS c.1116A>G p.R372R Substitution - coding silent Kidney COSM2035847 PHRF1 c.695C>T p.A232V Substitution - Missense Large_intestine COSM2066717 KDM5A c.2511G>A p.P837P Substitution - coding silent Large_intestine COSM2183191 VPS72 c.638C>T p.T213I Substitution - Missense Large_intestine COSM2095476 TDRD5 c.87G>T p.Q29H Substitution - Missense Large_intestine COSM2797922 BPTF c.8592G>T p.T2864T Substitution - coding silent Large_intestine COSM2866692 TRRAP c.6302G>A p.G2101E Substitution - Missense Large_intestine COSM2966525 SUV39H1 c.139T>C p.Y47H Substitution - Missense Large_intestine COSM3075979 BRPF3 c.1946G>A p.R649H Substitution - Missense Upper_aerodigestive_tract COSM3148794 DNMT1 c.2211C>T p.A737A Substitution - coding silent Large_intestine COSM3296126 MBD5 c.1276G>A p.V426I Substitution - Missense Upper_aerodigestive_tract COSM3320185 POLE3 c.340delA p.T114fs*32 Deletion - Frameshift Stomach COSM3358771 ERCC6 c.1245G>A p.K415K Substitution - coding silent Large_intestine COSM3381880 HDAC9 c.515T>A p.V172E Substitution - Missense Pancreas COSM3488183 RBBP4 c.714C>T p.L238L Substitution - coding silent Skin COSM3637012 HDAC9 c.1062G>A p.Q354Q Substitution - coding silent Skin COSM3619199 PRDM1 c.1808G>A p.R603K Substitution - Missense Skin COSM3625724 PHF1 c.57T>G p.A19A Substitution - coding silent Skin COSM3594803 SMARCC1 c.250C>T p.L84F Substitution - Missense Skin COSM3514563 NCOR1 c.2563C>T p.P855S Substitution - Missense Skin COSM3656489 SMARCA2 c.596C>T p.P199L Substitution - Missense Skin COSM3682172 ATRX c.5847C>A p.D1949E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3674437 NIPBL c.5286C>A p.S1762S Substitution - coding silent Prostate COSM3714315 KDM3A c.30G>C p.P10P Substitution - coding silent Upper_aerodigestive_tract COSM3758251 MSH6 c.186C>A p.R62R Substitution - coding silent Thyroid COSM3767905 CLOCK c.646A>T p.I216L Substitution - Missense Liver COSM3783222 DOT1L c.4223G>A p.G1408D Substitution - Missense Prostate COSM3799492 PHF20 c.813G>T p.V271V Substitution - coding silent Urinary_tract COSM3859998 ARID1B c.5717G>T p.R1906M Substitution - Missense Stomach COSM3836955 MBD5 c.2759G>A p.S920N Substitution - Missense Breast COSM3841913 BRWD1 c.5718C>T p.D1906D Substitution - coding silent Breast COSM3891640 MUM1 c.491C>T p.S164L Substitution - Missense Skin COSM3877917 SND1 c.2283C>A p.V761V Substitution - coding silent Stomach COSM3874516 TDRD6 c.1150G>A p.G384S Substitution - Missense Stomach COSM3957247 PHF11 c.81C>T p.L27L Substitution - coding silent Ovary COSM4113324 MBD4 c.187C>T p.P63S Substitution - Missense Stomach COSM4110126 SMC1A c.1549G>A p.G517S Substitution - Missense Stomach COSM4110252 PHF8 c.491G>A p.R164H Substitution - Missense Stomach COSM4097799 NCOA6 c.5688G>A p.P1896P Substitution - coding silent Stomach COSM4144787 JMJD1C c.4322G>A p.R1441K Substitution - Missense Thyroid COSM4152504 PBRM1 c.1819-3T>G p.? Unknown Kidney COSM4153016 MECOM c.3057G>A p.E1019E Substitution - coding silent Kidney COSM4165168 ZMYM1 c.1711T>A p.L571I Substitution - Missense Kidney COSM4170761 CREBBP c.2608C>T p.Q870* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4384720 KMT2D c.9056C>T p.P3019L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4409545 KMT2D c.14460C>T p.T4820T Substitution - coding silent Oesophagus COSM4597310 SMYD1 c.344A>G p.E115G Substitution - Missense Upper_aerodigestive_tract COSM4501032 KMT2D c.4981C>T p.P1661S Substitution - Missense Skin COSM4590278 KDM2A c.310A>G p.S104G Substitution - Missense Upper_aerodigestive_tract COSM4590278 KDM2A c.310A>G p.S104G Substitution - Missense Upper_aerodigestive_tract COSM4500316 CHD7 c.5623C>T p.P1875S Substitution - Missense Skin COSM4719997 RAD54L c.1233C>T p.V411V Substitution - coding silent Large_intestine COSM4694936 KDM3A c.3546G>A p.T1182T Substitution - coding silent Large_intestine COSM4665045 BAHCC1 c.1111G>A p.G371R Substitution - Missense Large_intestine COSM4765831 ZMYM3 c.253_254insG p.L85fs*4 Insertion - Frameshift Stomach COSM4613391 MGA c.4949delC p.P1651fs*5 Deletion - Frameshift Large_intestine COSM4775157 WHSC1 c.2368G>A p.V790I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4909142 KMT2C c.1050G>A p.P350P Substitution - coding silent Oesophagus COSM4937921 MYST3 c.1664A>G p.Q555R Substitution - Missense Liver COSM4831612 EP400 c.2251G>A p.E751K Substitution - Missense Cervix COSM4831779 CHD6 c.6883G>A p.E2295K Substitution - Missense Cervix COSM4817611 ZMYND11 c.273C>G p.F91L Substitution - Missense Cervix COSM4951435 KMT2D c.4421G>T p.S1474I Substitution - Missense Liver COSM4969952 KDM5C c.2332C>T p.R778* Substitution - Nonsense Central_nervous_system COSM4998739 ARID1A c.4480_4481insAA p.G1495fs*11 Insertion - Frameshift Pancreas COSM5083640 SHPRH c.1758delA p.G587fs*23 Deletion - Frameshift Small_intestine COSM5366729 KDM5C c.589delC p.L197fs*37 Deletion - Frameshift Large_intestine COSM5357084 SHPRH c.3732-4delT p.? Unknown Large_intestine COSM5357001 JARID2 c.3607delA p.N1204fs*>43 Deletion - Frameshift Large_intestine COSM5506330 KAT6B c.55A>C p.K19Q Substitution - Missense Biliary_tract COSM5751375 PHF6 c.125_126insCC p.H43fs*39 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5743008 ACTL6A c.830+2T>C p.? Unknown Small_intestine COSM5587041 ZMYM6 c.251C>T p.P84L Substitution - Missense Skin COSM5602075 PHRF1 c.4631C>T p.T1544I Substitution - Missense Skin COSM5620411 CARM1 c.1445C>T p.S482L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5611070 TRRAP c.687C>T p.P229P Substitution - coding silent Skin COSM5695450 EP400 c.7709G>T p.G2570V Substitution - Missense Soft_tissue COSM5709868 EYA4 c.811C>T p.P271S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5561088 INOC1 c.1453A>G p.N485D Substitution - Missense Prostate COSM5790427 SETMAR c.1973C>T p.T658M Substitution - Missense Breast COSM5878855 DNMT3A c.1066C>T p.Q356* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5925809 PRMT5 c.1018-8C>T p.? Unknown Skin COSM5959203 CLOCK c.1370C>T p.T457M Substitution - Missense Thyroid COSM5986183 SETD2 c.1633G>C p.E545Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM219092 TET2 c.? p.E1428* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43413 TET2 c.?_?ins? p.?fs Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5755008 SUZ12 c.598A>T p.S200C Substitution - Missense Large_intestine COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM384895 SMEK1 c.673G>A p.E225K Substitution - Missense Lung COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM211766 ARID1A c.5701G>T p.G1901* Substitution - Nonsense Endometrium COSM4558491 STK31 c.769G>A p.G257R Substitution - Missense Skin COSM324885 CAMKMT c.593G>T p.G198V Substitution - Missense Lung COSM3727849 TRIM66 c.1888C>G p.L630V Substitution - Missense Large_intestine COSM5814465 KAT6B c.4503A>T p.E1501D Substitution - Missense Liver COSM5708159 DNMT3A c.1840G>T p.D614Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1749646 FTO c.1057G>A p.D353N Substitution - Missense Urinary_tract COSM4427220 KMT2A c.7171T>C p.S2391P Substitution - Missense Oesophagus COSM51440 ARID1A c.1441C>T p.Q481* Substitution - Nonsense Lung COSM87011 DNMT3A c.2141C>G p.S714C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM727028 EP300 c.4241A>G p.Y1414C Substitution - Missense Oesophagus COSM3733522 NCOR1 c.59A>C p.Y20S Substitution - Missense Pancreas COSM262037 MLL5 c.2855C>A p.S952Y Substitution - Missense Endometrium COSM3741889 SRCAP c.1904A>C p.K635T Substitution - Missense Liver COSM908669 ZMYM4 c.834T>C p.N278N Substitution - coding silent Endometrium COSM1128591 ARID2 c.2037A>T p.Q679H Substitution - Missense Prostate COSM3407648 SP140_ENST00000392045 c.643A>T p.S215C Substitution - Missense Soft_tissue COSM5039262 KAT6B c.5963C>A p.T1988N Substitution - Missense Liver COSM196940 PHIP c.2113G>A p.A705T Substitution - Missense Large_intestine COSM5974438 HDAC10 c.1602G>C p.K534N Substitution - Missense Upper_aerodigestive_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM235338 SETBP1 c.3348C>T p.H1116H Substitution - coding silent Skin COSM3758108 ATAD2B_ENST00000238789 c.202C>T p.L68L Substitution - coding silent Large_intestine COSM5910506 ATAT1 c.261-7C>T p.? Unknown Skin COSM5062702 TRRAP c.2534G>A p.G845D Substitution - Missense Stomach COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4032042 PRMT3 c.727T>C p.Y243H Substitution - Missense Stomach COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM4703380 MSH6 c.3698A>C p.K1233T Substitution - Missense Large_intestine COSM4742919 ZMYM3 c.252_253insG p.L85fs*4 Insertion - Frameshift Large_intestine COSM3843403 ZBTB33 c.1651C>T p.Q551* Substitution - Nonsense Breast COSM698271 ARID4A c.501G>T p.K167N Substitution - Missense Lung COSM1048030 ATXN7 c.2300C>T p.A767V Substitution - Missense Endometrium COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM4479866 NCOA1 c.2368C>T p.P790S Substitution - Missense Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM275829 LBR c.535G>T p.E179* Substitution - Nonsense Large_intestine COSM378828 TAF1L c.4081G>T p.V1361F Substitution - Missense Lung COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM73758 ATAD2B_ENST00000238789 c.1063A>G p.R355G Substitution - Missense Ovary COSM1049788 INTS12 c.600G>A p.A200A Substitution - coding silent Endometrium COSM1312873 KMT2C c.5272C>T p.R1758C Substitution - Missense Large_intestine COSM41294 IDH1 c.? p.R132C Substitution - Missense Soft_tissue COSM5016367 RSF1 c.2475delA p.K825fs*10 Deletion - Frameshift Kidney COSM211672 TET2 c.3575G>T p.G1192V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM487922 SMARCA1 c.272G>A p.R91Q Substitution - Missense Kidney COSM1567959 ARID1B c.3712C>T p.P1238S Substitution - Missense Large_intestine COSM1703069 TDRD1 c.1739G>A p.G580E Substitution - Missense Skin COSM4392383 JMJD1C c.2550T>C p.D850D Substitution - coding silent Prostate COSM1630066 NCOR1 c.515C>T p.S172L Substitution - Missense Upper_aerodigestive_tract COSM222930 TET2 c.2179G>A p.A727T Substitution - Missense Skin COSM5825163 CHD1 c.296C>A p.S99Y Substitution - Missense Pancreas COSM4049833 CHD8 c.7001G>A p.R2334Q Substitution - Missense Stomach COSM1436878 PRDM9 c.550C>T p.R184* Substitution - Nonsense Large_intestine COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1026874 CHD6 c.2817C>T p.G939G Substitution - coding silent Endometrium COSM3148750 DNMT1 c.4395C>T p.G1465G Substitution - coding silent Large_intestine COSM3774111 PBRM1 c.4511T>C p.L1504P Substitution - Missense Kidney COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM315007 SCML2 c.2031G>T p.M677I Substitution - Missense Lung COSM6006202 CHD6 c.6866G>T p.G2289V Substitution - Missense Small_intestine COSM150428 KMT2C c.2958A>G p.P986P Substitution - coding silent Thyroid COSM4002744 PBRM1 c.4335A>G p.P1445P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1666833 CBX4 c.1514T>C p.V505A Substitution - Missense Stomach COSM1318847 ASXL1 c.2197C>T p.Q733* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM458028 HDAC8 c.463C>G p.L155V Substitution - Missense Breast COSM4591233 NCOR1 c.534G>C p.K178N Substitution - Missense Upper_aerodigestive_tract COSM3396185 BRDT c.1112C>T p.T371M Substitution - Missense Prostate COSM4152322 KIAA2026_ENST00000399933 c.4050A>G p.Q1350Q Substitution - coding silent Ovary COSM1443747 RING1 c.511delG p.E173fs*14 Deletion - Frameshift Large_intestine COSM4937342 TRIM66 c.671T>C p.I224T Substitution - Missense Liver COSM5035681 MBD5 c.306T>A p.H102Q Substitution - Missense Oesophagus COSM3307315 HDAC9 c.2820G>A p.T940T Substitution - coding silent Skin COSM4926488 PHF7 c.160A>G p.N54D Substitution - Missense Liver COSM947879 SETDB2 c.1877C>A p.S626Y Substitution - Missense Endometrium COSM5942906 DNMT3L c.140G>A p.R47Q Substitution - Missense Skin COSM4041997 ARID2 c.4923-1G>C p.? Unknown Stomach COSM5930342 KDM6B c.2086G>A p.A696T Substitution - Missense Skin COSM1026065 NCOA6 c.5120A>C p.K1707T Substitution - Missense Endometrium COSM4856539 MINA c.639C>T p.A213A Substitution - coding silent Cervix COSM52871 PBRM1 c.166_167insA p.T56fs*6 Insertion - Frameshift Kidney COSM4008808 ORC1 c.2422A>C p.M808L Substitution - Missense Stomach COSM5751710 SUZ12 c.998C>AC p.T333fs*7 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM96942 ARID1A c.? p.M981* Substitution - Nonsense Pancreas COSM5948751 ZCWPW2 c.474T>G p.H158Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5025217 ARID1A c.3162_3163insT p.Y1055fs*50 Insertion - Frameshift Breast COSM1250074 DIDO1 c.1359G>A p.P453P Substitution - coding silent Oesophagus COSM4611398 ZMYM2 c.3124delA p.K1044fs*33 Deletion - Frameshift Large_intestine COSM4059657 GTF3C1 c.2396G>A p.R799H Substitution - Missense Stomach COSM1312885 KMT2C c.2405C>T p.S802L Substitution - Missense Urinary_tract COSM5913838 AKAP1 c.1705C>T p.H569Y Substitution - Missense Skin COSM311404 GATAD2B c.306T>C p.D102D Substitution - coding silent Lung COSM3954832 KMT2D c.12913C>T p.L4305F Substitution - Missense Lung COSM133576 ASXL1 c.2332C>T p.Q778* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1248206 CHD4 c.5402G>A p.R1801Q Substitution - Missense Oesophagus COSM4187064 TET2 c.3525_3527delTAG p.I1175_R1176>M Complex - deletion inframe Kidney COSM3474776 PYGO2 c.282C>T p.F94F Substitution - coding silent Skin COSM3402275 SRCAP c.7481G>C p.C2494S Substitution - Missense Central_nervous_system COSM3526232 MBD1 c.1086C>T p.F362F Substitution - coding silent Large_intestine COSM1073640 SIRT5 c.504T>C p.S168S Substitution - coding silent Endometrium COSM4958394 POGZ c.2763C>T p.P921P Substitution - coding silent Liver COSM5998289 TDRD7 c.2535G>A p.Q845Q Substitution - coding silent Prostate COSM252979 CLOCK c.368delT p.L123fs*1 Deletion - Frameshift Large_intestine COSM162512 KMT2C c.7699G>T p.D2567Y Substitution - Missense Breast COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4961484 BAZ2A_ENST00000379441 c.2871C>T p.R957R Substitution - coding silent Liver COSM4384864 CREBBP c.6823G>A p.G2275R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3424181 CBX7 c.476G>A p.R159H Substitution - Missense Large_intestine COSM4769770 SHPRH c.764-9G>C p.? Unknown Biliary_tract COSM5417208 KMT2C c.13509C>G p.C4503W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM673700 PHF3 c.4060C>T p.Q1354* Substitution - Nonsense Endometrium COSM5754983 RAI1 c.4678C>T p.R1560* Substitution - Nonsense Large_intestine COSM421404 BAG6 c.399C>T p.V133V Substitution - coding silent Urinary_tract COSM1334659 ASH1L c.3760C>T p.R1254C Substitution - Missense Large_intestine COSM3783220 DOT1L c.3012C>T p.H1004H Substitution - coding silent Prostate COSM5025942 SMARCC1 c.842_845delATGA p.N281fs*13 Deletion - Frameshift Breast COSM3900238 MYST3 c.4709A>T p.D1570V Substitution - Missense Stomach COSM1623364 TRRAP c.10468C>T p.R3490W Substitution - Missense Liver COSM3705476 SMYD2 c.1098C>A p.I366I Substitution - coding silent Liver COSM5916629 SUZ12 c.1875-8T>A p.? Unknown Skin COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM85913 IKZF1 c.1-?_160+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4552472 SUZ12 c.55G>A p.G19R Substitution - Missense Skin COSM4792069 PHF19 c.590A>G p.Y197C Substitution - Missense Liver COSM3992874 TBL1XR1 c.662A>G p.D221G Substitution - Missense Kidney COSM4752018 SRCAP c.1823C>T p.T608M Substitution - Missense Stomach COSM1738043 TET2 c.? p.Q749fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM5569685 SMC1A c.83C>A p.T28N Substitution - Missense Prostate COSM308288 KMT2C c.250G>T p.E84* Substitution - Nonsense Kidney COSM3578889 SP140_ENST00000392045 c.531G>T p.V177V Substitution - coding silent Skin COSM1462007 TAF1L c.2624G>A p.G875E Substitution - Missense Skin COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5822919 PHF21A c.701A>T p.Q234L Substitution - Missense Liver COSM5879014 TET2 c.3533delA p.R1179fs*47 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM51200 ASXL1 c.1888_1910del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1439157 BRD9 c.595G>A p.A199T Substitution - Missense Oesophagus COSM4064143 NCOR1 c.7192C>T p.P2398S Substitution - Missense Stomach COSM4616505 ASXL3 c.1852G>A p.V618M Substitution - Missense Large_intestine COSM1103000 TDRD7 c.35G>A p.R12Q Substitution - Missense Endometrium COSM238441 WHSC1 c.3858C>T p.D1286D Substitution - coding silent Prostate COSM1355047 PHRF1 c.1204C>A p.P402T Substitution - Missense Large_intestine COSM3501416 TP53BP1 c.4396C>T p.P1466S Substitution - Missense Skin COSM5998931 KAT6B c.5361G>A p.T1787T Substitution - coding silent Prostate COSM5465460 SP100 c.2329T>G p.F777V Substitution - Missense Large_intestine COSM906835 SMYD3 c.423-1G>A p.? Unknown Endometrium COSM51200 ASXL1 c.1888_1910del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3555536 BRD1 c.2362C>T p.L788F Substitution - Missense Skin COSM383477 ARID1B c.6196G>T p.E2066* Substitution - Nonsense Lung COSM4385578 TET2 c.2165_2166insA p.P723fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM51434 ARID1A c.5539_5539delG p.G1847fs*36 Deletion - Frameshift Ovary COSM1172254 BAHD1 c.1201G>A p.E401K Substitution - Missense Oesophagus COSM975879 NCOR1 c.3099G>A p.P1033P Substitution - coding silent Large_intestine COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1034515 EP300 c.936G>T p.Q312H Substitution - Missense Endometrium COSM4663258 ARID1B c.5488delC p.L1832fs*1 Deletion - Frameshift Large_intestine COSM1109482 KIAA2026_ENST00000399933 c.868C>A p.L290I Substitution - Missense Endometrium COSM3855019 NIPBL c.3928G>A p.A1310T Substitution - Missense Stomach COSM3559624 HCFC1 c.4142C>T p.S1381F Substitution - Missense Skin COSM940098 KMT2D c.477T>C p.G159G Substitution - coding silent Endometrium COSM5915617 TDRD6 c.5348C>T p.P1783L Substitution - Missense Skin COSM3527172 L3MBTL4 c.442G>A p.E148K Substitution - Missense Skin COSM1688528 POGZ c.1393C>T p.L465F Substitution - Missense Skin COSM42016 TET2 c.4393C>T p.R1465* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM488578 TAF1 c.3146G>A p.R1049H Substitution - Missense Kidney COSM5363024 INOC1 c.2666C>G p.S889C Substitution - Missense Large_intestine COSM4689201 GTF3C4 c.857C>T p.A286V Substitution - Missense Large_intestine COSM3883776 TRRAP c.10855C>T p.R3619C Substitution - Missense Stomach COSM5361915 KDM5A c.3092G>A p.R1031H Substitution - Missense Large_intestine COSM5686664 C20orf20 c.457G>A p.A153T Substitution - Missense Soft_tissue COSM357997 ZGPAT c.882G>T p.S294S Substitution - coding silent Lung COSM4955917 HNF1A c.1234A>T p.M412L Substitution - Missense Liver COSM3527074 L3MBTL4 c.1138C>T p.P380S Substitution - Missense Skin COSM3204141 PHC3 c.562C>T p.Q188* Substitution - Nonsense Upper_aerodigestive_tract COSM4732923 TDRD7 c.3237C>T p.T1079T Substitution - coding silent Large_intestine COSM1029175 ZGPAT c.971C>G p.S324C Substitution - Missense Endometrium COSM4506475 SRCAP c.7217C>T p.T2406I Substitution - Missense Skin COSM1675575 TDRD1 c.1620T>G p.F540L Substitution - Missense Large_intestine COSM3362239 AKAP1 c.1460G>A p.C487Y Substitution - Missense Kidney COSM5008028 KMT2C c.13540C>T p.Q4514* Substitution - Nonsense Large_intestine COSM4586502 HDGFL1 c.148T>C p.F50L Substitution - Missense Bone COSM4847066 PRDM1 c.2010G>A p.L670L Substitution - coding silent Cervix COSM1672467 TDRD6 c.1664C>T p.A555V Substitution - Missense Large_intestine COSM5006566 PBRM1 c.?_?del? p.?fs*? Deletion - Frameshift Kidney COSM4693807 JARID2 c.2371G>A p.A791T Substitution - Missense Large_intestine COSM1195448 BAZ2A c.1600G>A p.V534I Substitution - Missense Lung COSM1716608 ATRX c.561T>G p.Y187* Substitution - Nonsense Central_nervous_system COSM3545262 ASXL1 c.4001C>T p.P1334L Substitution - Missense Skin COSM3600574 SMARCA5 c.1657T>A p.F553I Substitution - Missense Skin COSM990458 DNMT1 c.1068C>T p.C356C Substitution - coding silent Endometrium COSM1716180 EZH2 c.? p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5912750 CHD7 c.6079C>T p.R2027* Substitution - Nonsense Skin COSM5696293 CHD7 c.6639_6640delTG p.V2214fs*3 Deletion - Frameshift Soft_tissue COSM5218315 MYST3 c.3865_3867delGAG p.E1289delE Deletion - In frame Breast COSM238274 TAF3 c.384G>A p.L128L Substitution - coding silent Prostate COSM5442853 AKAP1 c.2341G>T p.A781S Substitution - Missense Oesophagus COSM3650667 PRDM14 c.1211G>A p.R404K Substitution - Missense Skin COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM956535 ARID4A c.2401G>T p.D801Y Substitution - Missense Endometrium COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3365350 SETD2 c.4472G>A p.R1491K Substitution - Missense Kidney COSM5880227 SMYD4 c.625C>T p.P209S Substitution - Missense Skin COSM913237 BRDT c.1384G>T p.E462* Substitution - Nonsense Endometrium COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Biliary_tract COSM3900879 CHD7 c.6665A>G p.E2222G Substitution - Missense Stomach COSM4474855 SUV420H1 c.1949C>T p.S650F Substitution - Missense Skin COSM4569713 CHD3 c.1789T>C p.S597P Substitution - Missense Skin COSM1167802 ATAD2B_ENST00000238789 c.2848_2849insA p.S950fs*29 Insertion - Frameshift Skin COSM1469227 TAF1 c.4127G>A p.R1376Q Substitution - Missense Large_intestine COSM1467077 SCML2 c.1493G>T p.R498L Substitution - Missense Large_intestine COSM5992567 PRDM16 c.2056A>C p.T686P Substitution - Missense Prostate COSM133128 DNMT3A c.2261T>G p.L754R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4627690 SIRT6 c.741C>T p.D247D Substitution - coding silent Large_intestine COSM1583090 DNMT3A c.2069T>G p.V690G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1125813 BRWD3 c.4627C>T p.R1543W Substitution - Missense Large_intestine COSM988362 SETBP1 c.160C>T p.R54C Substitution - Missense Endometrium COSM5001384 KIAA2026_ENST00000399933 c.1178G>T p.C393F Substitution - Missense Pancreas COSM1721877 EP300 c.2524C>T p.P842S Substitution - Missense Large_intestine COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Upper_aerodigestive_tract COSM4068642 SMARCD2 c.807G>A p.T269T Substitution - coding silent Stomach COSM4805872 SRCAP c.7466C>G p.S2489* Substitution - Nonsense Pancreas COSM1622430 JHDM1D c.2752A>G p.M918V Substitution - Missense Liver COSM3450620 PHRF1 c.2261C>T p.S754F Substitution - Missense Skin COSM33663 MSH6 c.560A>C p.K187T Substitution - Missense Central_nervous_system COSM5946037 KDM6A c.3666_3667insG p.T1224fs*27 Insertion - Frameshift Urinary_tract COSM97172 PRDM1 c.306C>G p.I102M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3668115 AP001011.3_ENST00000320876 c.1925A>T p.Y642F Substitution - Missense Liver COSM1220333 PHF10 c.71G>A p.R24Q Substitution - Missense Large_intestine COSM4953659 DNMT3L c.440C>T p.P147L Substitution - Missense Liver COSM1254007 HDAC4 c.3038C>T p.A1013V Substitution - Missense Oesophagus COSM4007338 ZMYM1 c.3083G>A p.R1028K Substitution - Missense Stomach COSM4606741 PRDM8 c.299A>G p.E100G Substitution - Missense Adrenal_gland COSM5576157 KMT2C c.5046G>A p.W1682* Substitution - Nonsense Stomach COSM72407 RERE c.3646C>T p.R1216C Substitution - Missense Ovary COSM4152459 SETD2 c.3973T>C p.S1325P Substitution - Missense Kidney COSM1049127 BRPF1 c.1191C>T p.C397C Substitution - coding silent Endometrium COSM86084 KMT2C c.? p.S3449F Substitution - Missense Large_intestine COSM3807284 ERCC6 c.972A>G p.K324K Substitution - coding silent Breast COSM3728049 EYA4 c.1259A>G p.H420R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5924361 NIPBL c.3026C>T p.S1009F Substitution - Missense Skin COSM4023065 ASH1L c.1688C>G p.S563C Substitution - Missense Stomach COSM1616125 AIRE c.1633T>A p.S545T Substitution - Missense Liver COSM3382548 KDM4C c.1442C>T p.S481F Substitution - Missense Pancreas COSM276243 MYST3 c.4487C>T p.S1496L Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM276400 NSD1 c.1176C>T p.F392F Substitution - coding silent Endometrium COSM1634409 PRDM1 c.951C>A p.H317Q Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4803436 KAT6B c.4294A>C p.S1432R Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5803335 BAP1 c.2082G>C p.Q694H Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4951455 ZBTB38 c.2784C>T p.S928S Substitution - coding silent Liver COSM13399 MSH6 c.3246G>T p.P1082P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM240323 KDM3A c.2422G>C p.G808R Substitution - Missense Prostate COSM4681134 EP400 c.7164C>A p.R2388R Substitution - coding silent Large_intestine COSM4153019 PHC3 c.2366G>T p.C789F Substitution - Missense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM110714 ASXL1 c.3379G>A p.D1127N Substitution - Missense Stomach COSM4596765 SMARCB1 c.1130G>T p.R377L Substitution - Missense Pancreas COSM4742990 ZMYND8 c.788A>G p.K263R Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4060952 GLYR1 c.1274T>C p.F425S Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM484900 TIF1 c.2485G>T p.G829* Substitution - Nonsense Kidney COSM961539 MGA c.7651C>A p.L2551I Substitution - Missense Endometrium COSM942086 MBD6 c.1489G>A p.E497K Substitution - Missense Stomach COSM3954777 ARID2 c.400C>T p.Q134* Substitution - Nonsense Skin COSM1015786 TET2 c.73T>C p.C25R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4097597 DNMT3B c.1434C>A p.C478* Substitution - Nonsense Stomach COSM424789 RNF2 c.133C>T p.L45L Substitution - coding silent Breast COSM394938 TRIM66 c.1413T>C p.L471L Substitution - coding silent Lung COSM3798867 NCOA1 c.4129C>G p.L1377V Substitution - Missense Urinary_tract COSM5570945 BRWD1 c.6488T>C p.V2163A Substitution - Missense Prostate COSM4954182 CBX6 c.477C>A p.I159I Substitution - coding silent Liver COSM5626613 BAZ2A c.429C>T p.L143L Substitution - coding silent Oesophagus COSM914362 ASXL1 c.? p.Q829* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM302137 EP400 c.8181A>G p.Q2727Q Substitution - coding silent Liver COSM4018331 KMT2A c.8403C>T p.L2801L Substitution - coding silent Stomach COSM150036 CDYL c.4A>G p.T2A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3688226 KMT2D c.15005C>T p.A5002V Substitution - Missense Large_intestine COSM1298393 MEN1 c.1716G>A p.S572S Substitution - coding silent Urinary_tract COSM3970253 BPTF c.2552G>A p.R851Q Substitution - Missense Central_nervous_system COSM749483 ATAD2 c.67G>T p.D23Y Substitution - Missense Lung COSM349331 EZH1 c.2057G>A p.R686Q Substitution - Missense Lung COSM1235152 TBL1XR1 c.739G>A p.G247R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87000 DNMT3A c.2690T>A p.V897D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM132968 ASXL1 c.? p.E635fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM5748877 BAZ2B c.1291C>T p.R431W Substitution - Missense Pancreas COSM4665221 BAZ2A_ENST00000379441 c.4924C>T p.R1642C Substitution - Missense Large_intestine COSM132968 ASXL1 c.? p.E635fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM3701020 MORF4L1 c.986A>G p.Y329C Substitution - Missense Liver COSM314915 RSF1 c.2587G>T p.E863* Substitution - Nonsense Soft_tissue COSM387862 KMT2C c.7518G>C p.Q2506H Substitution - Missense Lung COSM238875 ATAD2 c.3621C>A p.D1207E Substitution - Missense Prostate COSM1472717 ASH1L c.5070G>C p.E1690D Substitution - Missense Breast COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13367 TAF1L c.4645C>T p.H1549Y Substitution - Missense Central_nervous_system COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM36205 ASXL1 c.3306G>T p.E1102D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM84341 GTF3C1 c.3804G>A p.Q1268Q Substitution - coding silent Pancreas COSM49154 EZH2 c.2068C>T p.R690C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49154 EZH2 c.2068C>T p.R690C Substitution - Missense Skin COSM50956 EP400 c.8658G>A p.P2886P Substitution - coding silent Large_intestine COSM87084 TET2 c.1219_1219delT p.S407fs*20 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM127423 BAZ2A_ENST00000379441 c.3009G>A p.R1003R Substitution - coding silent Upper_aerodigestive_tract COSM129624 TBL1XR1 c.977G>A p.S326N Substitution - Missense Upper_aerodigestive_tract COSM145384 EYA1 c.356A>T p.Q119L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM149302 L3MBTL2 c.582C>T p.P194P Substitution - coding silent Stomach COSM218550 AP001011.3_ENST00000320876 c.4366A>G p.K1456E Substitution - Missense Pancreas COSM246766 PRDM4 c.1249C>T p.R417C Substitution - Missense Prostate COSM287292 GLYR1 c.1140_1141insG p.R381fs*15 Insertion - Frameshift Large_intestine COSM298583 APOBEC1 c.121G>A p.E41K Substitution - Missense Ovary COSM293686 SP140_ENST00000392045 c.2008delA p.K672fs*4 Deletion - Frameshift Large_intestine COSM309881 CBX2 c.1441C>T p.Q481* Substitution - Nonsense Lung COSM318948 BRPF3 c.2017A>C p.T673P Substitution - Missense Lung COSM322829 PRMT3 c.244C>T p.H82Y Substitution - Missense Lung COSM306097 SMNDC1 c.275C>T p.A92V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM326137 PHF12 c.249-1G>T p.? Unknown Lung COSM325826 MLL5 c.1607C>T p.S536L Substitution - Missense Lung COSM340680 TET2 c.1876C>G p.Q626E Substitution - Missense Lung COSM340168 CHD6 c.4593T>G p.T1531T Substitution - coding silent Lung COSM368494 PCGF6 c.912A>G p.V304V Substitution - coding silent Lung COSM386384 RAG2 c.879G>T p.E293D Substitution - Missense Lung COSM421078 L3MBTL3 c.1601C>G p.S534* Substitution - Nonsense Urinary_tract COSM1497336 TAF1 c.3998C>T p.A1333V Substitution - Missense Kidney COSM975867 NCOR1 c.4946C>T p.T1649M Substitution - Missense Endometrium COSM975868 NCOR1 c.4856C>T p.T1619I Substitution - Missense Endometrium COSM690888 KDM4D c.1181G>A p.G394E Substitution - Missense Lung COSM940080 KMT2D c.2918C>T p.T973M Substitution - Missense Urinary_tract COSM1030944 PRDM15 c.1809C>T p.P603P Substitution - coding silent Endometrium COSM920209 SFMBT2 c.88G>T p.D30Y Substitution - Missense Endometrium COSM757235 KDM6A c.1555C>T p.R519* Substitution - Nonsense Lung COSM732826 PRDM5 c.1411G>T p.V471F Substitution - Missense Lung COSM930494 KAT5 c.730C>T p.R244C Substitution - Missense Endometrium COSM905723 KDM1A c.2455C>T p.R819* Substitution - Nonsense Stomach COSM924944 PRDM10 c.2783C>T p.S928L Substitution - Missense Endometrium COSM1073484 EYA4 c.696C>T p.G232G Substitution - coding silent Endometrium COSM971405 CHD9 c.218A>G p.Q73R Substitution - Missense Endometrium COSM1125517 ATRX c.233G>A p.R78Q Substitution - Missense Endometrium COSM1106289 GTF3C4 c.400G>A p.A134T Substitution - Missense Endometrium COSM1095760 ATAD2 c.2017A>C p.N673H Substitution - Missense Endometrium COSM1081842 PHIP c.4853T>C p.V1618A Substitution - Missense Endometrium COSM1240903 BRDT c.1392T>C p.V464V Substitution - coding silent Oesophagus COSM1169589 PBRM1 c.4693_4705del13 p.L1565fs*11 Deletion - Frameshift Kidney COSM1215961 MUM1 c.1354A>G p.K452E Substitution - Missense Large_intestine COSM1161384 NCOA6 c.236-1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1311536 NCOA7 c.600G>A p.L200L Substitution - coding silent Urinary_tract COSM1322345 GLYATL1 c.616G>T p.D206Y Substitution - Missense Ovary COSM1379107 PRMT7 c.1850A>G p.Y617C Substitution - Missense Large_intestine COSM1462654 KIAA2026_ENST00000399933 c.1407T>G p.A469A Substitution - coding silent Large_intestine COSM1456878 ASH2L c.1316G>A p.G439D Substitution - Missense Large_intestine COSM1453158 TRRAP c.3406C>T p.P1136S Substitution - Missense Large_intestine COSM1342118 ZMYM1 c.2979A>C p.Q993H Substitution - Missense Large_intestine COSM1363128 BAZ2A_ENST00000379441 c.3797A>G p.Q1266R Substitution - Missense Large_intestine COSM1347621 EPC1 c.2422_2423delGT p.V808fs*9 Deletion - Frameshift Large_intestine COSM1562404 ACTR6 c.1104G>A p.E368E Substitution - coding silent Large_intestine COSM1611269 MBD1 c.529G>A p.G177R Substitution - Missense Liver COSM1583130 DNMT3A c.2693T>C p.I898T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1587019 ZMYM2 c.2596C>T p.H866Y Substitution - Missense Endometrium COSM1636197 KIAA2026_ENST00000399933 c.1066C>T p.P356S Substitution - Missense Liver COSM1688530 POGZ c.343C>T p.P115S Substitution - Missense Skin COSM1673699 KMT2C c.11708C>T p.S3903F Substitution - Missense Large_intestine COSM1708999 JMJD5 c.10G>A p.D4N Substitution - Missense Skin COSM1737356 MBD2 c.817C>T p.R273* Substitution - Nonsense Large_intestine COSM1741220 IDH1 c.315C>T p.G105G Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM2156557 SMARCA2 c.667_669delCAG p.Q238delQ Deletion - In frame Soft_tissue COSM2149842 PRMT8 c.251G>T p.G84V Substitution - Missense Central_nervous_system COSM2229166 EP400 c.5820T>C p.R1940R Substitution - coding silent Large_intestine COSM2209152 TDRD10 c.889A>G p.S297G Substitution - Missense Large_intestine COSM2820564 DNMT3L c.556A>G p.R186G Substitution - Missense Large_intestine COSM2965375 KDM6A c.2199C>A p.H733Q Substitution - Missense Upper_aerodigestive_tract COSM3166380 ATAD2 c.414C>T p.I138I Substitution - coding silent Skin COSM3296309 EPC2 c.2109C>T p.T703T Substitution - coding silent Kidney COSM3365324 SETD5_ENST00000402198 c.4240T>C p.Y1414H Substitution - Missense Kidney COSM3488186 RBBP4 c.1145G>A p.W382* Substitution - Nonsense Skin COSM3488291 PHC2 c.1815C>T p.F605F Substitution - coding silent Skin COSM3508900 SRCAP c.2710C>T p.P904S Substitution - Missense Skin COSM3495048 PRMT5 c.1409C>T p.S470F Substitution - Missense Skin COSM3432787 POLE3 c.54C>A p.I18I Substitution - coding silent Large_intestine COSM3604091 GABRG1 c.726G>A p.G242G Substitution - coding silent Skin COSM3596039 BAP1 c.376-1G>A p.? Unknown Skin COSM3548787 DIDO1 c.4044C>T p.T1348T Substitution - coding silent Skin COSM3551335 AIRE c.735G>A p.K245K Substitution - coding silent Skin COSM3515524 PHF12 c.3010C>T p.P1004S Substitution - Missense Skin COSM3528409 SMARCA4 c.829C>T p.P277S Substitution - Missense Skin COSM3794732 GTF3C1 c.753G>A p.R251R Substitution - coding silent Urinary_tract COSM3794530 CHD2 c.2809C>T p.H937Y Substitution - Missense Urinary_tract COSM3839169 DNMT3A c.793G>A p.V265M Substitution - Missense Liver COSM3906838 TAF1L c.4794T>C p.S1598S Substitution - coding silent Stomach COSM3905143 GTF3C4 c.521G>A p.C174Y Substitution - Missense Stomach COSM3912235 AIRE c.344C>T p.P115L Substitution - Missense Skin COSM3954328 SETD8 c.628A>T p.I210F Substitution - Missense Lung COSM3977563 PRDM16 c.340G>T p.V114L Substitution - Missense Lung COSM4097973 PHF20 c.1993T>G p.F665V Substitution - Missense Stomach COSM4110900 TAF1 c.2834A>T p.K945M Substitution - Missense Stomach COSM4117995 SETD2 c.4971G>A p.P1657P Substitution - coding silent Stomach COSM4118017 SETD2 c.2372G>A p.G791D Substitution - Missense Stomach COSM4116753 ZCWPW2 c.11A>C p.E4A Substitution - Missense Stomach COSM4062130 PRMT7 c.1162A>G p.T388A Substitution - Missense Stomach COSM4154970 KDM5C c.2755C>T p.Q919* Substitution - Nonsense Kidney COSM4384246 EZH2 c.2084C>T p.S695L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4394659 EPC1 c.267A>G p.I89M Substitution - Missense Skin COSM4395086 STK31 c.20C>T p.S7F Substitution - Missense Skin COSM4408765 KDM4A c.2593G>A p.G865S Substitution - Missense Oesophagus COSM4604688 SETBP1 c.2059A>C p.S687R Substitution - Missense Upper_aerodigestive_tract COSM4605656 KMT2D c.5092G>T p.E1698* Substitution - Nonsense Upper_aerodigestive_tract COSM4424179 KDM6A c.3769G>T p.E1257* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4420993 MBD1 c.63T>A p.F21L Substitution - Missense Ovary COSM4523213 ASXL3 c.325G>A p.E109K Substitution - Missense Skin COSM4507473 BPTF c.7094C>T p.S2365F Substitution - Missense Skin COSM4517577 NSD1 c.3760_3761CC>TT p.P1254F Substitution - Missense Skin COSM4577170 ARID1A c.5635C>A p.R1879R Substitution - coding silent Bone COSM4580606 SMARCA4 c.3652G>T p.A1218S Substitution - Missense Bone COSM4439827 HDAC1 c.1093C>T p.R365* Substitution - Nonsense Thyroid COSM4509157 ATAT1 c.799C>T p.P267S Substitution - Missense Skin COSM4609674 SMARCD1 c.228delG p.V77fs*47 Deletion - Frameshift Adrenal_gland COSM4650868 RBBP7 c.610T>C p.W204R Substitution - Missense Large_intestine COSM4771371 PRMT2 c.303G>T p.E101D Substitution - Missense Pleura COSM4788872 SETD1A c.1055C>G p.S352C Substitution - Missense Liver COSM4799634 TCF20 c.4720G>T p.E1574* Substitution - Nonsense Liver COSM4801428 HNF1A c.12A>G p.K4K Substitution - coding silent Liver COSM4888256 INOC1 c.2176G>T p.A726S Substitution - Missense Upper_aerodigestive_tract COSM4927540 MECOM c.1702C>G p.P568A Substitution - Missense Liver COSM5029796 MPHOSPH8 c.1133T>C p.L378P Substitution - Missense Bone COSM5031017 ASXL1 c.1542_1543delTG p.V515fs*13 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5359955 TDRD1 c.2957G>A p.R986Q Substitution - Missense Large_intestine COSM5521000 CHD3 c.2660G>A p.R887Q Substitution - Missense Biliary_tract COSM5460858 PRDM2 c.2105_2106insCTC p.T702_P703insS Insertion - In frame Large_intestine COSM5423467 SHPRH c.763+7T>G p.? Unknown Prostate COSM5751372 EP300 c.5403C>AC p.C1801fs*1 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM5651424 EPC2 c.505T>A p.Y169N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5720583 BRPF3 c.1092C>T p.P364P Substitution - coding silent Skin COSM5721211 EYA1 c.1678G>A p.E560K Substitution - Missense Skin COSM5725710 HAT1 c.842G>A p.S281N Substitution - Missense Skin COSM5620727 DUSP1 c.469G>A p.A157T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5599045 AIRE c.623G>A p.G208E Substitution - Missense Skin COSM5768989 KAT6B c.5367C>T p.N1789N Substitution - coding silent Breast COSM5701753 KMT2D c.8949_8950GG>TT p.L2983_E2984>F* Complex - compound substitution Soft_tissue COSM5708592 TBL1XR1 c.811G>C p.A271P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5794080 MUM1 c.941C>G p.A314G Substitution - Missense Breast COSM5825415 DAXX c.413C>G p.S138* Substitution - Nonsense Pancreas COSM5922811 EPC1 c.1630C>T p.L544F Substitution - Missense Skin COSM5957739 BRD8 c.847_848insG p.A283fs*9 Insertion - Frameshift Thyroid COSM5953626 ASXL1 c.1738A>T p.K580* Substitution - Nonsense Upper_aerodigestive_tract COSM6014930 KMT2D c.2636C>T p.P879L Substitution - Missense Skin COSM6005260 ATRX c.996T>C p.D332D Substitution - coding silent Prostate COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5032212 KDM5C c.? p.P380fs*50 Frameshift Lung COSM86975 IKZF1 c.1-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3175995 PHIP c.1934G>A p.S645N Substitution - Missense Upper_aerodigestive_tract COSM4714050 PHIP c.1545C>T p.G515G Substitution - coding silent Large_intestine COSM1095767 ATAD2 c.1210C>T p.R404* Substitution - Nonsense Skin COSM5365431 SMARCA4 c.1694C>T p.T565M Substitution - Missense Large_intestine COSM3148802 DNMT1 c.1701C>T p.A567A Substitution - coding silent Stomach COSM435122 SRCAP c.2319G>A p.L773L Substitution - coding silent Breast COSM269011 DHX30 c.1395G>A p.T465T Substitution - coding silent Biliary_tract COSM71233 JARID2 c.2957C>A p.S986Y Substitution - Missense Ovary COSM3363283 NCOA3 c.2101A>C p.I701L Substitution - Missense Kidney COSM5427058 DUSP1 c.367+8C>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1471819 NIPBL c.4906C>G p.R1636G Substitution - Missense Prostate COSM2965457 KDM6A c.3666A>T p.A1222A Substitution - coding silent Upper_aerodigestive_tract COSM5999242 EPC1 c.1127G>A p.S376N Substitution - Missense Prostate COSM5020679 HNF1A c.293C>T p.A98V Substitution - Missense Soft_tissue COSM3407648 SP140_ENST00000392045 c.643A>T p.S215C Substitution - Missense Central_nervous_system COSM4170162 TET2 c.1955delA p.Q652fs*48 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3988807 RAI1 c.5455G>A p.A1819T Substitution - Missense Kidney COSM46424 HNF1A c.788G>T p.R263L Substitution - Missense Liver COSM4578217 MGA c.5398T>C p.S1800P Substitution - Missense Bone COSM1322997 ACTR6 c.1165G>C p.V389L Substitution - Missense Ovary COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM1205422 EPC1 c.553T>G p.C185G Substitution - Missense Large_intestine COSM3021837 JARID2 c.1978C>T p.R660W Substitution - Missense Large_intestine COSM5019018 PRDM10 c.3428_3430delCCA p.T1143delT Deletion - In frame Urinary_tract COSM41296 IDH2 c.? p.R172W Substitution - Missense Biliary_tract COSM5046111 KDM2B c.2143T>C p.Y715H Substitution - Missense Oesophagus COSM4422880 ING3 c.34G>C p.E12Q Substitution - Missense Kidney COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM4002259 PHF6 c.585+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Large_intestine COSM3733523 NCOR1 c.14G>T p.G5V Substitution - Missense Upper_aerodigestive_tract COSM961209 BAHD1 c.1058C>T p.S353L Substitution - Missense Endometrium COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Skin COSM4809196 EYA3 c.1084-10C>T p.? Unknown Pancreas COSM5733862 KDM4A c.2955G>A p.M985I Substitution - Missense Pancreas COSM139183 NCOA6 c.674A>T p.H225L Substitution - Missense Skin COSM5424838 EP300 c.3501+2T>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM79644 CHRAC1 c.81C>A p.I27I Substitution - coding silent Ovary COSM1196414 EYA4 c.385G>C p.G129R Substitution - Missense Lung COSM43417 TET2 c.2746C>T p.Q916* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM46455 HNF1A c.534_535insA p.H179fs*9 Insertion - Frameshift Liver COSM4511394 EP400 c.8675C>T p.S2892L Substitution - Missense Skin COSM265843 PRMT8 c.1079T>C p.M360T Substitution - Missense Large_intestine COSM306072 EZH2 c.2051G>A p.R684H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3667107 HNF1A c.1378C>T p.Q460* Substitution - Nonsense Liver COSM972488 CTCF c.1133C>T p.P378L Substitution - Missense Endometrium COSM4584120 TBL1XR1 c.342C>T p.A114A Substitution - coding silent Bone COSM4093211 NCOA1 c.1515C>T p.N505N Substitution - coding silent Stomach COSM3430899 PHIP c.3928C>T p.R1310C Substitution - Missense Breast COSM5955982 GLYATL1 c.88G>A p.G30R Substitution - Missense Upper_aerodigestive_tract COSM467315 SUV420H1 c.1465C>T p.P489S Substitution - Missense Skin COSM1035225 BRD1 c.2540G>A p.R847Q Substitution - Missense Endometrium COSM4929744 PRMT10 c.1755A>T p.L585F Substitution - Missense Liver COSM1675075 TRDMT1 c.1142T>C p.V381A Substitution - Missense Large_intestine COSM3637552 STK31 c.2163C>T p.L721L Substitution - coding silent Skin COSM3771943 CREBBP c.4817A>G p.K1606R Substitution - Missense Pancreas COSM3693548 ZMYND8 c.3280-1G>C p.? Unknown Large_intestine COSM1716406 CTCF c.1407C>A p.C469* Substitution - Nonsense Endometrium COSM1666862 ARID1A c.? p.? Unknown Endometrium COSM3773420 PRDM2 c.409C>T p.L137L Substitution - coding silent Kidney COSM4485385 TRIM66 c.2929C>T p.L977F Substitution - Missense Skin COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4475735 PRDM15 c.2012C>T p.P671L Substitution - Missense Skin COSM2037085 PHRF1 c.3470G>A p.R1157Q Substitution - Missense Large_intestine COSM263784 SMCHD1 c.3470C>T p.S1157L Substitution - Missense Large_intestine COSM4041706 KDM5A c.3758C>T p.A1253V Substitution - Missense Stomach COSM3973898 ATRX c.6055A>G p.K2019E Substitution - Missense Central_nervous_system COSM4663228 ARID1A c.4349_4350insC p.Q1452fs*39 Insertion - Frameshift Large_intestine COSM3983448 KAT2A c.2404G>A p.A802T Substitution - Missense Ovary COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1752045 MBD5 c.1113G>C p.Q371H Substitution - Missense Urinary_tract COSM5465904 DHX30 c.982G>A p.A328T Substitution - Missense Large_intestine COSM1394661 KDM4B c.2889T>C p.P963P Substitution - coding silent Large_intestine COSM20664 TRRAP c.2677C>T p.R893C Substitution - Missense Ovary COSM910648 ORC1 c.1863+2T>C p.? Unknown Endometrium COSM3383726 KAT5 c.598G>A p.A200T Substitution - Missense Pancreas COSM739791 PRDM1 c.2127G>T p.V709V Substitution - coding silent Lung COSM693065 ATF7IP c.1288A>G p.M430V Substitution - Missense Lung COSM3637057 HDAC9 c.1706G>A p.G569E Substitution - Missense Skin COSM1363035 SMARCC2 c.3342T>C p.P1114P Substitution - coding silent Large_intestine COSM344423 GTF3C1 c.248G>T p.G83V Substitution - Missense Lung COSM1342901 KDM4A c.4G>A p.A2T Substitution - Missense Large_intestine COSM1082838 ZCWPW1 c.1103C>A p.S368Y Substitution - Missense Breast COSM3853972 NSD1 c.5270G>T p.R1757M Substitution - Missense Stomach COSM1666671 SETBP1 c.? p.T232I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3724527 SMARCA4 c.2438+1_2438+2insTGA p.? Unknown Ovary COSM5556977 PBRM1 c.555C>A p.I185I Substitution - coding silent Prostate COSM5020839 DAXX c.1914A>G p.Q638Q Substitution - coding silent Soft_tissue COSM4486978 HDAC9 c.3126C>T p.S1042S Substitution - coding silent Skin COSM250029 WHSC1 c.107_119del? p.? Unknown Skin COSM4162002 KMT2C c.2656C>T p.R886C Substitution - Missense Oesophagus COSM5053233 KDM1A c.2577G>A p.T859T Substitution - coding silent Stomach COSM1130163 ZBTB4 c.1380A>C p.P460P Substitution - coding silent Prostate COSM3778159 JHDM1D c.780C>G p.V260V Substitution - coding silent Urinary_tract COSM465211 PCGF6 c.77C>A p.P26Q Substitution - Missense Kidney COSM3596279 SFMBT1 c.1308T>C p.D436D Substitution - coding silent Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1737292 ACTL6B c.206C>T p.T69I Substitution - Missense Central_nervous_system COSM3620832 EYA4 c.1717A>C p.I573L Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5700861 PRDM9 c.1386C>A p.L462L Substitution - coding silent Soft_tissue COSM4500882 DIDO1 c.5758C>T p.P1920S Substitution - Missense Skin COSM3943840 ARID1A c.6180C>T p.T2060T Substitution - coding silent Ovary COSM1162121 TRRAP c.9006G>A p.M3002I Substitution - Missense Kidney COSM5918607 CHD1 c.799G>A p.E267K Substitution - Missense Skin COSM5546647 PHF6 c.222_224TAA>CCCC p.K75fs*21 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM215525 KDM1A c.1207G>A p.E403K Substitution - Missense Central_nervous_system COSM3406387 PHF16 c.310G>A p.V104I Substitution - Missense Central_nervous_system COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1074184 SHPRH c.4160A>G p.H1387R Substitution - Missense Endometrium COSM5643271 DUSP1 c.1035C>G p.I345M Substitution - Missense Oesophagus COSM992133 BRD4 c.1962C>T p.I654I Substitution - coding silent Endometrium COSM5644812 SRCAP c.7887G>C p.E2629D Substitution - Missense Oesophagus COSM2823463 SMYD1 c.797T>A p.L266Q Substitution - Missense Lung COSM4771470 EZH2 c.562G>A p.D188N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM435384 CHD9 c.4893G>A p.V1631V Substitution - coding silent Breast COSM1611719 BRD4 c.899T>C p.I300T Substitution - Missense Liver COSM131489 ARID2 c.2947C>T p.Q983* Substitution - Nonsense Liver COSM5051793 BAZ2A_ENST00000379441 c.307C>A p.P103T Substitution - Missense Stomach COSM1056169 CLOCK c.1159C>T p.R387* Substitution - Nonsense Endometrium COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM4411650 RNF2 c.872A>T p.Y291F Substitution - Missense Oesophagus COSM1169587 PBRM1 c.2822C>G p.S941* Substitution - Nonsense Liver COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5600200 PHF17 c.984C>T p.C328C Substitution - coding silent Skin COSM5743377 EHMT1 c.1987G>A p.E663K Substitution - Missense Small_intestine COSM3890610 CHD3 c.709T>C p.S237P Substitution - Missense Skin COSM1385203 SMARCD2 c.1298delC p.P433fs*19 Deletion - Frameshift Large_intestine COSM1051177 PHF17 c.456A>G p.E152E Substitution - coding silent Endometrium COSM1666371 INTS12 c.1202T>C p.L401P Substitution - Missense Eye COSM392468 HDAC2 c.1375_1376insA p.T459fs*4 Insertion - Frameshift Lung COSM4892509 NCOA5 c.1515C>T p.S505S Substitution - coding silent Skin COSM34192 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM453962 ATAD2 c.933A>G p.K311K Substitution - coding silent Breast COSM5749003 JARID2 c.493+2T>A p.? Unknown Pancreas COSM87169 TET2 c.4249G>T p.V1417F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716951 ARID1B c.5181delG p.E1728fs*20 Deletion - Frameshift Ovary COSM5006564 KDM5C c.? p.I1511T Substitution - Missense Kidney COSM245970 NCOR1 c.7171C>T p.R2391W Substitution - Missense Prostate COSM985382 KDM6B c.2253_2258delCACCAC p.T761_T762delTT Deletion - In frame Upper_aerodigestive_tract COSM5345318 HDAC9 c.2891T>C p.I964T Substitution - Missense Large_intestine COSM5490942 TDRD6 c.2744_2745insA p.N917fs*15 Insertion - Frameshift Biliary_tract COSM460903 ZBTB38 c.1537G>A p.E513K Substitution - Missense Cervix COSM3709528 HDAC4 c.716T>A p.F239Y Substitution - Missense Liver COSM1259603 NSD1 c.6118G>A p.V2040I Substitution - Missense Oesophagus COSM1660656 ATF2 c.472C>T p.Q158* Substitution - Nonsense Kidney COSM1633266 SFMBT1 c.1517A>G p.Y506C Substitution - Missense Liver COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4005135 HDAC6 c.2888A>G p.D963G Substitution - Missense Urinary_tract COSM3746938 PRDM16 c.444C>T p.S148S Substitution - coding silent Thyroid COSM220674 KMT2D c.7678C>T p.R2560* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3061743 TCF20 c.5029A>G p.T1677A Substitution - Missense Large_intestine COSM3862660 VPS72 c.604C>T p.H202Y Substitution - Missense Skin COSM5594772 KIAA2026_ENST00000399933 c.3756C>T p.F1252F Substitution - coding silent Skin COSM4041998 ARID2 c.4999T>C p.C1667R Substitution - Missense Stomach COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM987901 ASXL3 c.516C>T p.C172C Substitution - coding silent Endometrium COSM677838 TDRD5 c.1654G>C p.E552Q Substitution - Missense Lung COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3458548 ATF7IP c.2522C>T p.P841L Substitution - Missense Skin COSM4790088 CHD7 c.1124A>G p.Q375R Substitution - Missense Liver COSM165226 TTF2 c.1867G>C p.E623Q Substitution - Missense Breast COSM417820 MBD2 c.657G>A p.Q219Q Substitution - coding silent Urinary_tract COSM4792751 LMNB2 c.287G>T p.R96L Substitution - Missense Liver COSM4494366 HDGFL1 c.431C>T p.P144L Substitution - Missense Skin COSM3144756 L3MBTL4 c.1007A>C p.K336T Substitution - Missense Large_intestine COSM223832 CHD9 c.5022G>A p.W1674* Substitution - Nonsense Skin COSM218492 SRCAP c.980A>G p.E327G Substitution - Missense Pancreas COSM4678883 DNMT1 c.2066G>A p.R689Q Substitution - Missense Large_intestine COSM3858405 EYA4 c.529G>A p.V177I Substitution - Missense Stomach COSM1192753 CBX5 c.317delA p.K106fs*31 Deletion - Frameshift Large_intestine COSM985540 CHD3 c.5735C>T p.T1912M Substitution - Missense Lung COSM255240 GABRG1 c.143C>T p.T48M Substitution - Missense Central_nervous_system COSM420410 BRD8 c.410G>C p.R137T Substitution - Missense Urinary_tract COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Bone COSM146243 HDAC9 c.3108_3109insT p.V1037fs*25 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4804714 EPC2 c.2394A>G p.A798A Substitution - coding silent Liver COSM993 SMARCB1 c.601C>T p.R201* Substitution - Nonsense Central_nervous_system COSM124751 NIPBL c.1574C>G p.S525C Substitution - Missense Upper_aerodigestive_tract COSM3417675 TDRD3 c.643G>A p.A215T Substitution - Missense Large_intestine COSM469532 TDRD3 c.1635A>G p.E545E Substitution - coding silent Kidney COSM2229047 EP400 c.1425A>G p.T475T Substitution - coding silent Large_intestine COSM5944943 DNMT3A c.1959G>C p.L653F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM422399 SMARCA2 c.2683C>G p.L895V Substitution - Missense Urinary_tract COSM51978 BAP1 c.757C>T p.Q253* Substitution - Nonsense Liver COSM2965385 KDM6A c.2264C>T p.T755M Substitution - Missense Large_intestine COSM2166348 KAT5 c.474T>C p.I158I Substitution - coding silent Upper_aerodigestive_tract COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Soft_tissue COSM3720599 TET2 c.2227_2228insA p.Q744fs*10 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2881340 L3MBTL4 c.1490C>T p.A497V Substitution - Missense Large_intestine COSM4607675 SIRT7 c.786C>A p.D262E Substitution - Missense Adrenal_gland COSM5558575 HDAC2 c.419T>C p.L140S Substitution - Missense Prostate COSM5618626 KMT2C c.2689C>T p.R897* Substitution - Nonsense Breast COSM5964910 HCFC1 c.225T>C p.Y75Y Substitution - coding silent Breast COSM3611755 HDAC3 c.302T>C p.F101S Substitution - Missense Skin COSM1411822 CHD6 c.8148G>T p.*2716Y Nonstop extension Large_intestine COSM934228 HCFC2 c.1786C>T p.R596* Substitution - Nonsense Large_intestine COSM24909 HNF1A c.185_194del10 p.N62fs*90 Deletion - Frameshift Liver COSM4188607 L3MBTL3 c.1231A>T p.S411C Substitution - Missense Kidney COSM4590050 PRDM10 c.1332A>C p.E444D Substitution - Missense Upper_aerodigestive_tract COSM955469 BAZ1A c.2002C>T p.R668C Substitution - Missense Endometrium COSM4788302 KMT2C c.11237G>T p.G3746V Substitution - Missense Liver COSM4517774 SETD1B c.824_825CC>TT p.S275F Substitution - Missense Skin COSM4591023 KMT2C c.871C>T p.L291F Substitution - Missense Upper_aerodigestive_tract COSM1744042 PBRM1 c.235A>T p.R79* Substitution - Nonsense Biliary_tract COSM4539905 HDAC5 c.2750G>A p.G917E Substitution - Missense Skin COSM1640880 CBX2 c.615C>T p.S205S Substitution - coding silent Stomach COSM4584544 PBRM1 c.3837C>G p.L1279L Substitution - coding silent Bone COSM4590050 PRDM10 c.1332A>C p.E444D Substitution - Missense Upper_aerodigestive_tract COSM4787837 SMARCC2 c.3602C>T p.A1201V Substitution - Missense Liver COSM3845306 ZMYM3 c.3562C>T p.R1188* Substitution - Nonsense Breast COSM900290 TDRD5 c.12A>C p.Q4H Substitution - Missense Endometrium COSM1744233 RAI1 c.4678C>G p.R1560G Substitution - Missense Biliary_tract COSM5880141 UHRF2 c.2163+7G>A p.? Unknown Skin COSM4881006 PRDM1 c.362A>C p.N121T Substitution - Missense Prostate COSM3479334 TDRD5 c.2675C>T p.S892F Substitution - Missense Skin COSM5799903 KAT2B c.2371G>C p.D791H Substitution - Missense Breast COSM3932818 SMCHD1 c.466G>A p.V156I Substitution - Missense Urinary_tract COSM468432 KMT2D c.14067C>G p.A4689A Substitution - coding silent Kidney COSM1266240 SMARCA4 c.2932C>T p.R978* Substitution - Nonsense Oesophagus COSM3411890 HDAC9 c.73G>A p.D25N Substitution - Missense Central_nervous_system COSM2801175 PHF12 c.2105C>T p.P702L Substitution - Missense Skin COSM42061 TET2 c.1843_1844insG p.L615fs*23 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3862920 ASH1L c.4000C>T p.P1334S Substitution - Missense Skin COSM5368562 TRRAP c.9319G>A p.E3107K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4168301 KDM6A c.3334_3335insTC p.V1113fs*8 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM391259 NIPBL c.7685delG p.S2562fs*19 Deletion - Frameshift Lung COSM5476191 DIDO1 c.4800C>T p.L1600L Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM757657 ZMYM3 c.1278C>T p.S426S Substitution - coding silent Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5679441 HDAC7 c.29C>T p.P10L Substitution - Missense Soft_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4149674 TBL1XR1 c.1071G>T p.W357C Substitution - Missense Ovary COSM97047 ASXL1 c.4139_4140delCA p.A1380fs*11 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM52839 PBRM1 c.3633C>A p.Y1211* Substitution - Nonsense Kidney COSM5351103 GABRG1 c.88C>A p.L30M Substitution - Missense Lung COSM3712220 PHF12 c.550G>A p.D184N Substitution - Missense Prostate COSM1067675 NIPBL c.3862G>A p.D1288N Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5374665 EP400 c.1175T>G p.F392C Substitution - Missense Skin COSM4334453 ARID2 c.103delA p.I37fs*21 Deletion - Frameshift Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1117737 HCFC1 c.2949C>T p.C983C Substitution - coding silent Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5985423 DOT1L c.164T>C p.M55T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Bone COSM4728329 SMARCC2 c.2902G>T p.G968C Substitution - Missense Large_intestine COSM1488403 KMT2C c.2719_2720insCC p.R907fs*7 Insertion - Frameshift Breast COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM4591511 CBX4 c.670G>A p.G224S Substitution - Missense Upper_aerodigestive_tract COSM3523241 CBX4 c.873C>T p.S291S Substitution - coding silent Skin COSM4936089 TCF20 c.4564T>A p.S1522T Substitution - Missense Liver COSM462450 ATRX c.? p.? Unknown Central_nervous_system COSM3493329 BRDT c.1244C>T p.S415F Substitution - Missense Skin COSM1369009 CHD8 c.3307G>T p.G1103C Substitution - Missense Large_intestine COSM231574 DNMT3A c.2307_2308insT p.S770fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3547367 ZMYND8 c.304C>T p.P102S Substitution - Missense Skin COSM2812131 SETBP1 c.3923C>T p.T1308M Substitution - Missense Stomach COSM1643943 SMARCA1 c.2896G>A p.E966K Substitution - Missense Stomach COSM5998813 EHMT1 c.3471C>T p.D1157D Substitution - coding silent Prostate COSM4848397 KDM2A c.474G>A p.Q158Q Substitution - coding silent Cervix COSM4610509 KDM1A c.2516T>C p.L839P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1487294 SHPRH c.4093C>T p.R1365* Substitution - Nonsense Breast COSM443953 NCOA3 c.3760_3762delCAA p.Q1254delQ Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM3521202 BPTF c.5225A>T p.Y1742F Substitution - Missense Skin COSM1346788 MGMT c.26G>A p.R9H Substitution - Missense Large_intestine COSM3978898 BTAF1 c.580G>A p.E194K Substitution - Missense Lung COSM716468 MBD5 c.3547G>C p.E1183Q Substitution - Missense Lung COSM5809265 ATRX c.2266G>T p.E756* Substitution - Nonsense Liver COSM744996 EZH2 c.1698C>T p.R566R Substitution - coding silent Lung COSM28780 KDM6A c.3835C>T p.R1279* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM33986 SMARCB1 c.298_299delCT p.L100fs*5 Deletion - Frameshift Soft_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43440 TET2 c.1061C>G p.S354* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM79255 PHF20L1 c.643G>T p.G215* Substitution - Nonsense Ovary COSM70802 FMR1 c.1325G>A p.R442Q Substitution - Missense Ovary COSM106795 DNMT3L c.714C>T p.F238F Substitution - coding silent Skin COSM110612 TAF1L c.689C>T p.P230L Substitution - Missense Skin COSM110754 TET2 c.4106C>G p.S1369* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM87130 TET2 c.3781C>T p.R1261C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM115757 CBX8 c.796C>T p.P266S Substitution - Missense Ovary COSM137785 ASH1L c.5985T>A p.Y1995* Substitution - Nonsense Skin COSM184380 GTF3C1 c.3733C>T p.R1245C Substitution - Missense Liver COSM218772 DHX30 c.2003C>T p.P668L Substitution - Missense Pancreas COSM211739 TET2 c.4834_4835insA p.S1612fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM254549 ARID1A c.5009G>A p.W1670* Substitution - Nonsense Urinary_tract COSM254811 KMT2A c.4437C>G p.C1479W Substitution - Missense Urinary_tract COSM255143 MEN1 c.1231_1231delG p.A411fs*34 Deletion - Frameshift Parathyroid COSM282816 KMT2A c.10342G>A p.E3448K Substitution - Missense Large_intestine COSM281933 INOC1 c.3507C>A p.I1169I Substitution - coding silent Large_intestine COSM305649 RBBP4 c.628G>T p.V210F Substitution - Missense Central_nervous_system COSM325654 L3MBTL3 c.564A>T p.E188D Substitution - Missense Lung COSM370195 TDRD6 c.5085G>T p.M1695I Substitution - Missense Lung COSM1496388 TDRD6 c.880G>A p.G294R Substitution - Missense Kidney COSM421534 KMT2C c.11620G>T p.E3874* Substitution - Nonsense Urinary_tract COSM424063 ASH1L c.2264C>G p.S755C Substitution - Missense Breast COSM414507 ARID1A c.1841C>T p.S614L Substitution - Missense Urinary_tract COSM461415 CHD7 c.6587C>T p.T2196I Substitution - Missense Cervix COSM985404 CBX8 c.696C>T p.D232D Substitution - coding silent Endometrium COSM693234 KDM5A c.4208C>T p.S1403F Substitution - Missense Lung COSM687686 SIRT3 c.649C>A p.H217N Substitution - Missense Lung COSM753630 TAF1L c.1192T>C p.S398P Substitution - Missense Lung COSM751073 CHD7 c.1962G>T p.K654N Substitution - Missense Lung COSM750335 MYST3 c.1108C>T p.L370F Substitution - Missense Lung COSM707004 MYST2 c.566G>A p.G189D Substitution - Missense Lung COSM703267 SRCAP c.46C>A p.Q16K Substitution - Missense Lung COSM1692146 SP140 c.363G>A p.M121I Substitution - Missense Skin COSM931012 KDM2A c.350A>C p.K117T Substitution - Missense Endometrium COSM908620 ZMYM6 c.1201A>G p.I401V Substitution - Missense Endometrium COSM947881 PHF11 c.156C>T p.V52V Substitution - coding silent Endometrium COSM924946 PRDM10 c.2290C>A p.P764T Substitution - Missense Endometrium COSM969953 SRCAP c.9335C>A p.S3112* Substitution - Nonsense Endometrium COSM1125871 BRWD3 c.1376A>G p.H459R Substitution - Missense Endometrium COSM1087580 KMT2C c.7137G>T p.E2379D Substitution - Missense Endometrium COSM1205380 EP400 c.6851G>A p.R2284H Substitution - Missense Large_intestine COSM1183849 ASXL3 c.1918C>T p.R640W Substitution - Missense Skin COSM1262957 PRDM9 c.631T>G p.F211V Substitution - Missense Large_intestine COSM1267589 TDRD7 c.2810A>C p.K937T Substitution - Missense Oesophagus COSM1606397 BAZ2A c.3292A>G p.I1098V Substitution - Missense Liver COSM1296221 ARID1A c.1765C>T p.Q589* Substitution - Nonsense Biliary_tract COSM1317684 VPS72 c.370G>C p.D124H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1331783 PHF8 c.455-20_455-1del20 p.? Unknown Ovary COSM1388997 CXXC1 c.785C>T p.A262V Substitution - Missense Large_intestine COSM1408314 MSH6 c.3477C>T p.Y1159Y Substitution - coding silent Large_intestine COSM1409846 KDM3A c.3097C>T p.R1033C Substitution - Missense Large_intestine COSM1353192 SIRT3 c.1107C>T p.G369G Substitution - coding silent Large_intestine COSM1616519 TCF20 c.4557G>T p.V1519V Substitution - coding silent Liver COSM1618463 PRMT10 c.237T>G p.A79A Substitution - coding silent Liver COSM1628186 KDM2A c.1702C>T p.R568* Substitution - Nonsense Large_intestine COSM1642846 NCOA7 c.2693+7delT p.? Unknown Stomach COSM1675426 BTAF1 c.5215C>T p.R1739W Substitution - Missense Large_intestine COSM1711206 INO80C c.511C>T p.R171W Substitution - Missense Skin COSM1721033 ZGPAT c.1277C>T p.A426V Substitution - Missense Skin COSM1662793 KMT2C c.926C>G p.P309R Substitution - Missense Kidney COSM1716237 ATRX c.2971G>A p.E991K Substitution - Missense Central_nervous_system COSM2007296 KMT2D c.2636C>A p.P879H Substitution - Missense Large_intestine COSM2154624 EPC1 c.1392-3T>C p.? Unknown Central_nervous_system COSM2098385 CHD4 c.4178G>A p.R1393Q Substitution - Missense Large_intestine COSM2687714 NIPBL c.3G>A p.M1I Substitution - Missense Oesophagus COSM2265205 ZMYM2 c.1328T>C p.M443T Substitution - Missense Large_intestine COSM2919930 CREBBP c.5410C>T p.H1804Y Substitution - Missense Large_intestine COSM3035411 RBBP7 c.1254C>T p.S418S Substitution - coding silent Large_intestine COSM3154347 PRDM1 c.1885C>T p.P629S Substitution - Missense Large_intestine COSM3253943 MLL5 c.2208T>A p.N736K Substitution - Missense Large_intestine COSM3386092 PRDM16 c.823G>A p.G275S Substitution - Missense Pancreas COSM3416177 SUV420H1 c.2593G>T p.D865Y Substitution - Missense Large_intestine COSM3460978 ARID2 c.4150C>T p.H1384Y Substitution - Missense Skin COSM3474957 ASH1L c.6717C>T p.L2239L Substitution - coding silent Skin COSM3621302 SHPRH c.1783C>T p.P595S Substitution - Missense Skin COSM3589911 MECOM c.219G>A p.T73T Substitution - coding silent Stomach COSM3583862 SMYD1 c.342G>A p.V114V Substitution - coding silent Skin COSM3579789 ATAD2B_ENST00000238789 c.3716C>T p.S1239L Substitution - Missense Skin COSM3567440 MBD5 c.1372C>T p.Q458* Substitution - Nonsense Skin COSM3528407 SMARCA4 c.820G>A p.G274S Substitution - Missense Skin COSM3680558 ZBTB4 c.1032A>G p.K344K Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3724499 SMARCA4 c.1761+1G>A p.? Unknown Ovary COSM3783025 RAI1 c.834G>C p.Q278H Substitution - Missense Kidney COSM3813525 ZMYM2 c.1814A>T p.Y605F Substitution - Missense Breast COSM3801564 PRDM2 c.4671C>G p.V1557V Substitution - coding silent Breast COSM3865678 RAD54L c.1008C>T p.F336F Substitution - coding silent Skin COSM3858045 NCOA7 c.2247C>A p.I749I Substitution - coding silent Stomach COSM3937000 GTF3C1 c.4480C>G p.L1494V Substitution - Missense Oesophagus COSM3899362 ELP3 c.370A>G p.T124A Substitution - Missense Stomach COSM3978449 EPC1 c.2457A>T p.E819D Substitution - Missense Lung COSM4005520 KAT2B c.349T>C p.S117P Substitution - Missense Urinary_tract COSM3987943 MGA c.3147T>A p.N1049K Substitution - Missense Kidney COSM4116756 ZCWPW2 c.827T>C p.M276T Substitution - Missense Stomach COSM4152457 SETD2 c.3983A>G p.K1328R Substitution - Missense Kidney COSM4169560 MSH6 c.1801C>G p.L601V Substitution - Missense Central_nervous_system COSM4383813 TET2 c.1558G>A p.G520S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4400729 WHSC1 c.530C>T p.S177F Substitution - Missense Skin COSM4412751 PHF3 c.902C>G p.S301* Substitution - Nonsense Oesophagus COSM4601314 MBD5 c.644G>A p.R215H Substitution - Missense Upper_aerodigestive_tract COSM4416623 NCOA5 c.1329A>C p.T443T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4444224 GATAD2B c.830G>T p.R277L Substitution - Missense Large_intestine COSM4593308 CREBBP c.6682C>G p.H2228D Substitution - Missense Upper_aerodigestive_tract COSM4581857 NCOA3 c.3882G>A p.G1294G Substitution - coding silent Bone COSM4526216 SMYD1 c.1380G>A p.K460K Substitution - coding silent Skin COSM4454780 KAT6B c.5787A>G p.S1929S Substitution - coding silent Skin COSM4453631 SMC1A c.3248A>G p.E1083G Substitution - Missense Skin COSM4410866 KDM2B c.2805delT p.H936fs*4 Deletion - Frameshift Kidney COSM4717870 PRMT2 c.495C>T p.Y165Y Substitution - coding silent Prostate COSM4767451 KMT2C c.2769+5G>T p.? Unknown Biliary_tract COSM4695479 KIAA1045 c.698delG p.D235fs*6 Deletion - Frameshift Large_intestine COSM4650727 ACTL6B c.12C>T p.G4G Substitution - coding silent Large_intestine COSM4773920 HCFC1 c.3128C>A p.A1043E Substitution - Missense Stomach COSM4803638 KMT2A c.4111C>T p.Q1371* Substitution - Nonsense Liver COSM4887351 FMR1 c.1033G>A p.V345I Substitution - Missense Upper_aerodigestive_tract COSM4919688 GTF3C1 c.1712C>A p.A571E Substitution - Missense Liver COSM4832998 SP100 c.1785T>A p.D595E Substitution - Missense Cervix COSM4843664 SUV420H2 c.1299C>T p.L433L Substitution - coding silent Cervix COSM4856589 TTF2 c.413G>T p.W138L Substitution - Missense Cervix COSM4998369 EP300 c.1470C>A p.N490K Substitution - Missense Pancreas COSM4994901 SFMBT2 c.2640G>T p.Q880H Substitution - Missense Upper_aerodigestive_tract COSM4993087 MYST3 c.4610C>T p.S1537F Substitution - Missense Skin COSM4989126 KDM6B c.2281A>G p.T761A Substitution - Missense Biliary_tract COSM5032272 ASXL3 c.901C>T p.L301L Substitution - coding silent Oesophagus COSM4971346 CHD7 c.6965delA p.N2322fs*7 Deletion - Frameshift Central_nervous_system COSM5089116 EHMT2 c.2241+8C>T p.? Unknown Large_intestine COSM5363996 HDAC5 c.2405G>A p.R802H Substitution - Missense Large_intestine COSM5398996 KAT2B c.1264G>T p.E422* Substitution - Nonsense Skin COSM5365199 SIRT6 c.307C>T p.R103C Substitution - Missense Large_intestine COSM5492007 KDM1B c.394G>A p.A132T Substitution - Missense Biliary_tract COSM5443524 SP110 c.149A>T p.E50V Substitution - Missense Oesophagus COSM5768327 NCOA2 c.3915C>T p.Y1305Y Substitution - coding silent Breast COSM5720583 BRPF3 c.1092C>T p.P364P Substitution - coding silent Skin COSM5607498 MLL5 c.2107G>A p.E703K Substitution - Missense Skin COSM5685820 TTF2 c.1095G>A p.K365K Substitution - coding silent Soft_tissue COSM5702813 PRDM15 c.1075G>T p.G359W Substitution - Missense Pancreas COSM5774308 TDRD3 c.1867C>G p.L623V Substitution - Missense Breast COSM5824941 PHF17 c.891G>T p.M297I Substitution - Missense Pancreas COSM5999470 PRMT3 c.1585G>A p.G529S Substitution - Missense Prostate COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716177 EZH2 c.? p.Y646H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41896 TET2 c.? p.Q417* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4767347 TET2 c.2530_2533delAATA p.N844fs*28 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5809805 ASXL3 c.220G>A p.E74K Substitution - Missense Liver COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM5548899 ARID2 c.5318C>T p.A1773V Substitution - Missense Prostate COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM3648807 ASH2L c.595C>T p.P199S Substitution - Missense Skin COSM3791778 MEN1 c.1809C>G p.L603L Substitution - coding silent Urinary_tract COSM5703321 TDRD7 c.3268T>C p.Y1090H Substitution - Missense Autonomic_ganglia COSM5004293 KMT2D c.856_857insCGGA p.K287fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM285196 SMARCA2 c.3863A>G p.D1288G Substitution - Missense Large_intestine COSM4958267 SMARCA2 c.2336T>C p.I779T Substitution - Missense Liver COSM84061 RAG2 c.814G>T p.V272F Substitution - Missense Pancreas COSM1658836 MGA c.3980_3981insGTCA p.P1329fs*10 Insertion - Frameshift Salivary_gland COSM5740856 CHD3 c.5662C>T p.R1888* Substitution - Nonsense Small_intestine COSM265253 ARID2 c.854G>A p.R285Q Substitution - Missense Breast COSM4462477 PRMT5 c.1248C>T p.V416V Substitution - coding silent Skin COSM3901323 PRDM14 c.1308C>T p.L436L Substitution - coding silent Stomach COSM144613 KMT2D c.13324G>T p.E4442* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM96480 EZH2 c.475G>A p.G159R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4586655 DAXX c.444C>T p.A148A Substitution - coding silent Bone COSM87011 DNMT3A c.2141C>G p.S714C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5716285 BAHCC1 c.2987C>T p.P996L Substitution - Missense Skin COSM253894 ZMYND8 c.2140G>C p.D714H Substitution - Missense Urinary_tract COSM5570613 ATRX c.3543C>G p.V1181V Substitution - coding silent Prostate COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1193141 ASH1L c.3814C>T p.R1272W Substitution - Missense Large_intestine COSM1109479 KIAA2026_ENST00000399933 c.1064G>A p.R355K Substitution - Missense Endometrium COSM1048984 SETD5_ENST00000402198 c.1322G>A p.R441H Substitution - Missense Endometrium COSM1288386 TCF20 c.738C>A p.S246S Substitution - coding silent Autonomic_ganglia COSM3017612 SHPRH c.2398C>T p.R800C Substitution - Missense Stomach COSM3995648 ACTB c.1033A>C p.I345L Substitution - Missense Kidney COSM3411349 ZCWPW1 c.127G>T p.G43W Substitution - Missense Central_nervous_system COSM3554449 CBX6 c.658C>T p.L220L Substitution - coding silent Skin COSM3963999 DNMT3L c.865G>A p.V289M Substitution - Missense Lung COSM5759811 ZMYM4 c.4270A>C p.R1424R Substitution - coding silent Bone COSM5790724 ZMYM1 c.2366G>A p.R789Q Substitution - Missense Breast COSM3758108 ATAD2B_ENST00000238789 c.202C>T p.L68L Substitution - coding silent Large_intestine COSM917771 EPC1 c.2375C>T p.A792V Substitution - Missense Soft_tissue COSM4080260 KDM4B c.571G>A p.E191K Substitution - Missense Stomach COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Skin COSM3624836 EHMT2 c.1687C>T p.P563S Substitution - Missense Skin COSM4068929 BPTF c.5621C>T p.T1874M Substitution - Missense Stomach COSM4573122 HCFC2 c.980T>A p.L327* Substitution - Nonsense Skin COSM3166304 ATAD2 c.3909G>T p.Q1303H Substitution - Missense Large_intestine COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1287834 SETD8 c.1044G>A p.P348P Substitution - coding silent Autonomic_ganglia COSM3434302 TDRD1 c.3145C>T p.P1049S Substitution - Missense Skin COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4541733 KDM3B c.3059G>A p.W1020* Substitution - Nonsense Skin COSM363000 KMT2C c.11980G>T p.D3994Y Substitution - Missense Lung COSM254545 ARID1A c.3590C>G p.S1197C Substitution - Missense Urinary_tract COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM166191 SMC1A c.1018_1020delATG p.M340delM Deletion - In frame Breast COSM383557 CHD7 c.7076A>G p.Q2359R Substitution - Missense Lung COSM391869 ATF7IP c.1137_1138insC p.A380fs*9 Insertion - Frameshift Lung COSM1124796 ZMYM3 c.3827G>T p.R1276I Substitution - Missense Endometrium COSM1067094 PRDM9 c.2496T>C p.Y832Y Substitution - coding silent Prostate COSM1451980 BAZ1B c.787C>T p.R263* Substitution - Nonsense Large_intestine COSM3688372 MBD6 c.104T>G p.L35R Substitution - Missense Large_intestine COSM5952099 DHX30 c.1558C>T p.R520W Substitution - Missense Oesophagus COSM5434389 SMEK1 c.1496T>C p.V499A Substitution - Missense Oesophagus COSM3716945 BRD7 c.274C>T p.R92* Substitution - Nonsense Liver COSM1746650 KDM4D c.760C>G p.L254V Substitution - Missense Urinary_tract COSM5612973 CDYL2 c.850C>T p.R284W Substitution - Missense Adrenal_gland COSM3396185 BRDT c.1112C>T p.T371M Substitution - Missense Prostate COSM5934906 PRDM8 c.700C>T p.H234Y Substitution - Missense Skin COSM255179 ARID1A c.3216_3216delA p.K1072fs*21 Deletion - Frameshift Ovary COSM966706 CHD2 c.1804G>T p.D602Y Substitution - Missense Endometrium COSM4788457 TDRD5 c.2063T>C p.I688T Substitution - Missense Liver COSM2149450 RAG2 c.820G>T p.V274F Substitution - Missense Central_nervous_system COSM4172512 PHF6 c.? p.A41V Substitution - Missense Skin COSM916828 TRDMT1 c.676G>T p.D226Y Substitution - Missense Endometrium COSM4111146 ATRX c.3464C>G p.S1155* Substitution - Nonsense Stomach COSM381540 PRDM5 c.533G>T p.S178I Substitution - Missense Lung COSM21288 BRD3 c.71delC p.P24fs*24 Deletion - Frameshift Large_intestine COSM4529933 EYA1 c.1654G>A p.V552I Substitution - Missense Skin COSM3154291 PRDM1 c.626_627delAG p.E211fs*23 Deletion - Frameshift Large_intestine COSM3521192 BPTF c.4241C>T p.P1414L Substitution - Missense Skin COSM6013367 KIAA2026_ENST00000399933 c.3929C>T p.S1310L Substitution - Missense Skin COSM746388 STK31 c.279G>T p.Q93H Substitution - Missense Lung COSM26586 SMARCA4 c.4801C>T p.R1601W Substitution - Missense Kidney COSM1257804 MLL5 c.2888G>A p.R963H Substitution - Missense Large_intestine COSM5547781 KMT2D c.5110_5122del13 p.T1704fs*69 Deletion - Frameshift Prostate COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM913367 MTF2 c.1039C>T p.R347* Substitution - Nonsense Endometrium COSM2768784 SND1 c.2163delC p.P723fs*2 Deletion - Frameshift Large_intestine COSM2820599 AIRE c.371C>T p.P124L Substitution - Missense Large_intestine COSM3563675 BRWD3 c.3914G>T p.W1305L Substitution - Missense Skin COSM972490 CTCF c.1342C>T p.R448* Substitution - Nonsense Endometrium COSM1681739 NCOA3 c.3148G>A p.E1050K Substitution - Missense Large_intestine COSM3080621 ACTL6B c.695delC p.P232fs*24 Deletion - Frameshift Large_intestine COSM163706 PRDM15 c.964G>A p.D322N Substitution - Missense Large_intestine COSM268370 ARID2 c.4651G>A p.A1551T Substitution - Missense Large_intestine COSM3534350 SIRT6 c.870C>T p.P290P Substitution - coding silent Skin COSM4168946 BAZ2A_ENST00000379441 c.4267C>G p.L1423V Substitution - Missense Peritoneum COSM2692770 CDYL2 c.867C>T p.N289N Substitution - coding silent Stomach COSM4678919 DNMT3L c.1114delC p.L372fs*1 Deletion - Frameshift Large_intestine COSM5359720 TAF1L c.2533C>T p.R845* Substitution - Nonsense Large_intestine COSM4021547 PRDM2 c.1750G>C p.D584H Substitution - Missense Stomach COSM4817528 PRDM16 c.799G>A p.E267K Substitution - Missense Cervix COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM896682 PYGO2 c.646G>A p.A216T Substitution - Missense Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4877946 ALKBH1 c.21C>T p.A7A Substitution - coding silent Prostate COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM79475 ADNP c.114T>C p.F38F Substitution - coding silent Ovary COSM908423 PHC2 c.2095C>T p.R699W Substitution - Missense Breast COSM1227192 SP140_ENST00000392045 c.1201C>T p.R401C Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3799432 ASXL1 c.1730C>G p.S577* Substitution - Nonsense Urinary_tract COSM1578426 KIAA1045 c.1055_1056insC p.S353fs*>49 Insertion - Frameshift Lung COSM1159197 CHD8 c.4044A>G p.K1348K Substitution - coding silent Pancreas COSM3763347 MYST3 c.4455C>T p.S1485S Substitution - coding silent Large_intestine COSM1071737 PRDM1 c.205G>T p.E69* Substitution - Nonsense Endometrium COSM932716 EED c.1321C>T p.R441* Substitution - Nonsense Skin COSM1581324 NIPBL c.8392G>A p.A2798T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3203683 MECOM c.850G>A p.A284T Substitution - Missense Upper_aerodigestive_tract COSM276729 PHF3 c.4229G>T p.R1410I Substitution - Missense Large_intestine COSM4385240 EP300 c.1442C>A p.P481Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5586200 PHC3 c.34G>T p.V12L Substitution - Missense Skin COSM308427 SMARCC1 c.1840-3T>C p.? Unknown Kidney COSM5691145 KMT2A c.5962G>C p.E1988Q Substitution - Missense Soft_tissue COSM207998 MECOM c.1839delA p.G614fs*30 Deletion - Frameshift Large_intestine COSM1412228 EYA2 c.1602G>C p.E534D Substitution - Missense Large_intestine COSM5651739 KMT2C c.6833C>T p.P2278L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM35408 KAT6B c.3291A>G p.E1097E Substitution - coding silent Ovary COSM5925629 PRMT3 c.1559C>T p.T520M Substitution - Missense Skin COSM1447009 MLL5 c.1651_1652insA p.T553fs*4 Insertion - Frameshift Large_intestine COSM207998 MECOM c.1839delA p.G614fs*30 Deletion - Frameshift Large_intestine COSM1169587 PBRM1 c.2822C>G p.S941* Substitution - Nonsense Kidney COSM1012894 ASXL1 c.2083C>T p.Q695* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4876854 BPTF c.3564C>T p.D1188D Substitution - coding silent Prostate COSM3846388 ZBTB38 c.1543C>T p.R515* Substitution - Nonsense Breast COSM1076375 KDM1B c.369C>T p.T123T Substitution - coding silent Endometrium COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3715888 PHF20L1 c.762G>A p.K254K Substitution - coding silent Upper_aerodigestive_tract COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6005472 KDM6A c.1372C>T p.P458S Substitution - Missense Breast COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5661491 SMYD4 c.2350G>C p.E784Q Substitution - Missense Soft_tissue COSM5879044 TET2 c.5215delA p.R1739fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3689857 RERE c.1846G>A p.A616T Substitution - Missense Large_intestine COSM5379350 RBBP5 c.251C>T p.A84V Substitution - Missense Skin COSM908384 PRDM16 c.3426C>T p.T1142T Substitution - coding silent Endometrium COSM415325 KMT2A c.7516G>A p.E2506K Substitution - Missense Urinary_tract COSM3457100 HNF1A c.669C>T p.N223N Substitution - coding silent Skin COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4689662 HDAC10 c.913T>A p.Y305N Substitution - Missense Large_intestine COSM3794538 CHD2 c.3756C>G p.V1252V Substitution - coding silent Urinary_tract COSM1233562 ZMYND8 c.1216G>A p.A406T Substitution - Missense Large_intestine COSM5650502 MBD2 c.836G>A p.R279H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3714790 INTS12 c.289G>T p.E97* Substitution - Nonsense Upper_aerodigestive_tract COSM255289 KDM6A c.162-1G>A p.? Unknown Central_nervous_system COSM1624851 SMARCA2 c.2983G>C p.D995H Substitution - Missense Liver COSM88784 EP300 c.4879C>T p.R1627W Substitution - Missense Stomach COSM215417 PWWP2B c.256C>G p.P86A Substitution - Missense Central_nervous_system COSM4897661 MBD5 c.3823A>C p.S1275R Substitution - Missense Skin COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1616520 TCF20 c.4181A>T p.E1394V Substitution - Missense Liver COSM1665961 PBRM1 c.3534-2A>T p.? Unknown Kidney COSM693716 KMT2D c.14294G>T p.C4765F Substitution - Missense Lung COSM87121 TET2 c.3535_3536insA p.R1179fs*7 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM704397 PRMT7 c.616G>A p.G206R Substitution - Missense Lung COSM1190863 KMT2D c.10920_10925delGCAACT p.Q3640_L3642>H Complex - deletion inframe Lung COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3901388 EYA1 c.495C>T p.S165S Substitution - coding silent Stomach COSM5752390 KMT2D c.13550_13551delCA p.T4517fs*29 Deletion - Frameshift Breast COSM3907574 KIAA2026_ENST00000399933 c.3356C>A p.A1119E Substitution - Missense Stomach COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3629175 PHF3 c.1164G>A p.E388E Substitution - coding silent Skin COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM937511 ATF7IP c.2878G>T p.G960C Substitution - Missense Endometrium COSM1469219 TAF1 c.2990G>A p.R997H Substitution - Missense Large_intestine COSM465701 ERCC6 c.3433G>A p.E1145K Substitution - Missense Kidney COSM34090 IDH2 c.516G>T p.R172S Substitution - Missense Bone COSM5051786 BAZ2A c.3117G>A p.R1039R Substitution - coding silent Stomach COSM5552668 KIAA2026_ENST00000399933 c.3107A>T p.E1036V Substitution - Missense Prostate COSM46440 HNF1A c.695T>A p.L232Q Substitution - Missense Liver COSM6008648 EP300 c.2891C>T p.S964F Substitution - Missense Prostate COSM5941612 BAZ2B c.472G>A p.G158R Substitution - Missense Skin COSM3579808 HDAC4 c.1271C>T p.P424L Substitution - Missense Skin COSM1130335 HDAC11 c.447C>T p.G149G Substitution - coding silent Stomach COSM1602145 ARID1A c.3467A>G p.E1156G Substitution - Missense Liver COSM4959541 CHD7 c.2017G>A p.A673T Substitution - Missense Liver COSM5571569 KDM2B c.568G>A p.V190I Substitution - Missense Prostate COSM3715047 NSD1 c.2873C>T p.S958L Substitution - Missense Upper_aerodigestive_tract COSM4922802 SMYD1 c.139C>T p.L47F Substitution - Missense Liver COSM1331801 SMC1A c.2106G>C p.Q702H Substitution - Missense Ovary COSM1307794 BRWD1 c.1751C>A p.P584H Substitution - Missense Urinary_tract COSM1562958 BAHD1 c.996C>T p.G332G Substitution - coding silent Large_intestine COSM5445080 L3MBTL3 c.2020C>G p.L674V Substitution - Missense Oesophagus COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM4488719 BTAF1 c.3370C>T p.H1124Y Substitution - Missense Skin COSM3376943 RBBP5 c.1437C>G p.S479S Substitution - coding silent Pancreas COSM1046989 BAP1 c.1809C>T p.V603V Substitution - coding silent Endometrium COSM4796216 WHSC1L1 c.1843G>A p.G615R Substitution - Missense Liver COSM2230124 PRDM2 c.3204T>G p.S1068S Substitution - coding silent Large_intestine COSM245635 MECOM c.707G>A p.R236K Substitution - Missense Prostate COSM5006580 SETD2 c.?_?del? p.?fs Deletion - Frameshift Kidney COSM4153067 BAZ1B c.3134G>T p.C1045F Substitution - Missense Kidney COSM5977521 SMC1A c.3247G>A p.E1083K Substitution - Missense Skin COSM3656615 SMARCA2 c.4506C>T p.A1502A Substitution - coding silent Skin COSM382451 HDAC9 c.3123C>A p.A1041A Substitution - coding silent Lung COSM3307252 HDAC9 c.2264G>A p.R755H Substitution - Missense Stomach COSM4475944 ATAD2B_ENST00000238789 c.2029C>T p.P677S Substitution - Missense Skin COSM1420491 MECOM c.301_302delAG p.R101fs*5 Deletion - Frameshift Large_intestine COSM5351522 NCOA2 c.3415T>A p.S1139T Substitution - Missense Lung COSM4766120 TET2 c.2088_2089insCA p.P697fs*4 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1242235 EPC1 c.715C>T p.R239* Substitution - Nonsense Oesophagus COSM1658924 ACTB c.277G>A p.E93K Substitution - Missense Salivary_gland COSM1061311 KDM3B c.1228C>A p.L410M Substitution - Missense Endometrium COSM4385115 ASXL1 c.2894_2896delGAG p.G967delG Deletion - In frame Bone COSM1644649 GTF3C1 c.2778+1G>A p.? Unknown Salivary_gland COSM5058810 NCOA1 c.1154G>A p.R385Q Substitution - Missense Stomach COSM6000675 PHC1 c.2023G>T p.E675* Substitution - Nonsense Prostate COSM2098506 CHD4 c.2924G>T p.R975L Substitution - Missense Breast COSM5687571 MBD2 c.261A>C p.G87G Substitution - coding silent Soft_tissue COSM2753750 KDM4B c.349G>A p.D117N Substitution - Missense Large_intestine COSM317025 ASH1L c.7699G>A p.V2567I Substitution - Missense Lung COSM1163361 WHSC1 c.4020_4021insC p.E1344fs*>23 Insertion - Frameshift Stomach COSM221582 DNMT3A c.2678G>C p.W893S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4414063 HDAC6 c.2141A>G p.D714G Substitution - Missense Kidney COSM5915690 KMT2C c.11669A>C p.Q3890P Substitution - Missense Skin COSM4120728 BRPF1 c.648C>T p.D216D Substitution - coding silent Stomach COSM1602143 ARID1A c.2732+1G>C p.? Unknown Liver COSM5445094 ATAT1 c.603G>A p.L201L Substitution - coding silent Oesophagus COSM4795601 SETD2 c.2238G>A p.L746L Substitution - coding silent Liver COSM111693 KAT6B c.3289_3291delGAA p.E1097delE Deletion - In frame Upper_aerodigestive_tract COSM4695056 KDM6B c.3190delC p.P1065fs*26 Deletion - Frameshift Large_intestine COSM1034990 PHF21B c.346G>A p.A116T Substitution - Missense Pancreas COSM4582446 TCF20 c.1381A>T p.T461S Substitution - Missense Bone COSM1665759 SMARCA1 c.1462delA p.M488fs*2 Deletion - Frameshift Kidney COSM4385816 SMYD4 c.983A>G p.E328G Substitution - Missense Thyroid COSM23048 MEN1 c.1154_1155insG p.E387fs*22 Insertion - Frameshift Parathyroid COSM4694998 KDM5A c.2131A>C p.M711L Substitution - Missense Large_intestine COSM1012910 ASXL1 c.2338C>T p.Q780* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1109524 UHRF2 c.216A>T p.L72L Substitution - coding silent Endometrium COSM2182774 SETDB1 c.3059A>C p.E1020A Substitution - Missense Large_intestine COSM483990 BRPF3 c.1843G>A p.A615T Substitution - Missense Kidney COSM4419685 STK31 c.69A>G p.Q23Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM127445 BPTF c.1746G>A p.E582E Substitution - coding silent Upper_aerodigestive_tract COSM1161850 WHSC1 c.581G>T p.S194I Substitution - Missense Kidney COSM3656840 TAF1L c.3843G>A p.L1281L Substitution - coding silent Liver COSM4134429 ASXL1 c.486G>A p.K162K Substitution - coding silent Thyroid COSM471822 FTO c.768T>G p.S256R Substitution - Missense Kidney COSM5002549 TRDMT1 c.847G>T p.V283F Substitution - Missense Pancreas COSM419672 AIRE c.442C>G p.P148A Substitution - Missense Urinary_tract COSM5936374 ZBTB4 c.2980C>A p.P994T Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5891440 KDM2A c.190G>T p.V64L Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3095749 TAF1 c.1976G>T p.G659V Substitution - Missense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4488982 MBD5 c.3410C>T p.S1137F Substitution - Missense Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4957101 MSH6 c.1097A>T p.Y366F Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2152177 CHD7 c.5783A>T p.Q1928L Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1031241 AIRE c.553T>C p.S185P Substitution - Missense Endometrium COSM1616598 HDAC10 c.1365G>T p.E455D Substitution - Missense Liver COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5748809 HELLS c.1543T>C p.S515P Substitution - Missense Pancreas COSM5914259 ASXL1 c.1888C>T p.H630Y Substitution - Missense Upper_aerodigestive_tract COSM5046000 DNMT1 c.2999_3001delTCT p.F1000delF Deletion - In frame Oesophagus COSM4432134 BTAF1 c.5226C>T p.R1742R Substitution - coding silent Oesophagus COSM5018782 ACTR8 c.1586delA p.K529fs*8 Deletion - Frameshift Soft_tissue COSM150645 TDRD7 c.449T>C p.V150A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4031017 ARID1A c.4381C>T p.R1461* Substitution - Nonsense Endometrium COSM5763777 MTF2 c.1696G>A p.E566K Substitution - Missense Large_intestine COSM6012319 TDRD6 c.2416C>T p.Q806* Substitution - Nonsense Skin COSM325774 MBD6 c.2316G>T p.Q772H Substitution - Missense Pancreas COSM5481237 INOC1 c.2281A>G p.I761V Substitution - Missense Large_intestine COSM3912894 L3MBTL2 c.1360C>T p.L454F Substitution - Missense Skin COSM1566255 HDAC11 c.468G>A p.A156A Substitution - coding silent Large_intestine COSM1041419 TBL1XR1 c.497G>A p.R166Q Substitution - Missense Endometrium COSM302137 EP400 c.8181A>G p.Q2727Q Substitution - coding silent Skin COSM3812605 BAZ2A c.486C>A p.I162I Substitution - coding silent Breast COSM42070 TET2 c.5650A>G p.T1884A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM23015 MEN1 c.252_253insT p.I85fs*32 Insertion - Frameshift Parathyroid COSM3714781 WHSC1 c.2185C>T p.R729C Substitution - Missense Stomach COSM1109425 KIAA2026_ENST00000399933 c.6053C>T p.S2018F Substitution - Missense Endometrium COSM4742935 ZMYM6 c.1591A>C p.N531H Substitution - Missense Large_intestine COSM3461555 KMT2D c.7763C>T p.S2588F Substitution - Missense Skin COSM4680492 EHMT1 c.2421G>T p.E807D Substitution - Missense Large_intestine COSM144568 PHF6 c.823G>A p.G275R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3596201 PBRM1 c.255T>G p.Y85* Substitution - Nonsense Skin COSM4835144 MORF4L1 c.892G>A p.G298R Substitution - Missense Cervix COSM28785 KDM6A c.2587C>T p.Q863* Substitution - Nonsense Urinary_tract COSM36756 ARID2 c.4061G>A p.R1354K Substitution - Missense Skin COSM83884 ARID1A c.3826C>T p.R1276* Substitution - Nonsense Large_intestine COSM51441 ARID1A c.5161C>T p.R1721* Substitution - Nonsense Skin COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Pancreas COSM53022 EZH2 c.172C>T p.Q58* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM96923 IDH1 c.211G>A p.V71I Substitution - Missense Thyroid COSM110809 TET2 c.4260_4264ATACA>GTC p.Y1421fs*4 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM110760 TET2 c.5192_5192delG p.G1731fs*14 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM120173 TET2 c.1090_1091GG>T p.G364fs*8 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM149376 SETD2 c.4376C>T p.P1459L Substitution - Missense Soft_tissue COSM149376 SETD2 c.4376C>T p.P1459L Substitution - Missense Soft_tissue COSM162510 KMT2C c.3199C>G p.L1067V Substitution - Missense Breast COSM164279 SETD2 c.5686C>T p.R1896* Substitution - Nonsense Breast COSM185725 TAF1L c.3727C>T p.R1243W Substitution - Missense Endometrium COSM184236 ARID1A c.2077C>T p.R693* Substitution - Nonsense Endometrium COSM219034 PHF8 c.2011G>C p.D671H Substitution - Missense Pancreas COSM201010 ING1 c.586C>T p.R196* Substitution - Nonsense Large_intestine COSM215536 KMT2D c.11733_11734insGGGCA p.L3915fs*32 Insertion - Frameshift Central_nervous_system COSM215752 SMARCA4 c.3694G>A p.G1232S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM247696 TAF1 c.5015C>A p.S1672Y Substitution - Missense Prostate COSM231555 DNMT3A c.1598A>G p.Y533C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM252770 RBBP5 c.650C>T p.T217M Substitution - Missense Ovary COSM270286 TAF1 c.5118G>A p.Q1706Q Substitution - coding silent Large_intestine COSM342097 KMT2A c.4115A>C p.E1372A Substitution - Missense Lung COSM345827 BAG6 c.1589C>T p.S530L Substitution - Missense Lung COSM367185 SMARCD2 c.491G>A p.G164E Substitution - Missense Stomach COSM442602 ATAD2B_ENST00000238789 c.1040G>T p.R347I Substitution - Missense Breast COSM459347 PHC1 c.2600G>A p.R867H Substitution - Missense Cervix COSM1600584 TRIM33 c.915A>G p.K305K Substitution - coding silent Liver COSM480140 SETD2 c.4381G>T p.E1461* Substitution - Nonsense Kidney COSM684561 ZMYND11 c.1051C>G p.Q351E Substitution - Missense Lung COSM955477 BAZ1A c.296C>T p.S99L Substitution - Missense Skin COSM1027517 ZMYND8 c.2692G>A p.A898T Substitution - Missense Large_intestine COSM1022754 SMYD5 c.529G>A p.E177K Substitution - Missense Endometrium COSM729159 PHC3 c.1990A>T p.S664C Substitution - Missense Lung COSM731728 ATXN7 c.1244A>T p.H415L Substitution - Missense Lung COSM907726 ARID1A c.4336C>T p.R1446* Substitution - Nonsense Oesophagus COSM900901 RNF2 c.248G>A p.G83D Substitution - Missense Endometrium COSM908623 ZMYM6 c.1101G>C p.A367A Substitution - coding silent Endometrium COSM935974 HNF1A c.862delG p.P291fs*51 Deletion - Frameshift Large_intestine COSM993717 DOT1L c.552C>T p.G184G Substitution - coding silent Oesophagus COSM1045455 SETD2 c.3619C>T p.R1207C Substitution - Missense Endometrium COSM1071563 PRDM13 c.358G>A p.D120N Substitution - Missense Endometrium COSM1071566 PRDM13 c.1902C>A p.F634L Substitution - Missense Endometrium COSM1124916 TAF1 c.4937C>A p.P1646H Substitution - Missense Endometrium COSM1099957 MYST3 c.1183G>T p.D395Y Substitution - Missense Endometrium COSM1242007 ARID1A c.3211delA p.K1072fs*21 Deletion - Frameshift Oesophagus COSM1230619 TRRAP c.1847G>A p.R616H Substitution - Missense Ovary COSM1167907 ARID2 c.5147+1G>A p.? Unknown Large_intestine COSM1228406 TAF1 c.2012T>C p.L671P Substitution - Missense Large_intestine COSM1248227 CHD8 c.3948G>C p.M1316I Substitution - Missense Stomach COSM1245598 ASXL1 c.2506A>C p.T836P Substitution - Missense Oesophagus COSM1255497 KDM4D c.673C>T p.R225C Substitution - Missense Biliary_tract COSM1190803 CHD7 c.698delG p.G233fs*72 Deletion - Frameshift Lung COSM1308799 MECOM c.1969G>C p.E657Q Substitution - Missense Urinary_tract COSM1316582 PHF21A c.313C>A p.H105N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1432772 LMNB1 c.469A>C p.K157Q Substitution - Missense Large_intestine COSM1443800 PHF1 c.10delC p.R6fs*2 Deletion - Frameshift Large_intestine COSM1363132 BAZ2A c.3829_3834delCTTCAG p.L1277_Q1278delLQ Deletion - In frame Large_intestine COSM1341415 ARID1A c.4421delA p.N1475fs*6 Deletion - Frameshift Large_intestine COSM1549136 KMT2C c.1114G>T p.D372Y Substitution - Missense Large_intestine COSM1485239 SETD2 c.5960G>A p.R1987Q Substitution - Missense Prostate COSM1629926 FTO c.463G>A p.E155K Substitution - Missense Liver COSM1688649 GATAD2B c.361_362CC>TT p.P121F Substitution - Missense Skin COSM1682743 BRWD3 c.4003C>A p.P1335T Substitution - Missense Large_intestine COSM1640227 INOC1 c.685delA p.R229fs*45 Deletion - Frameshift Large_intestine COSM1704417 RSF1 c.1606G>A p.E536K Substitution - Missense Skin COSM1716867 SETBP1 c.2605A>C p.S869R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1685365 SETBP1 c.2587G>A p.E863K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1729495 L3MBTL3 c.680A>T p.K227I Substitution - Missense Liver COSM1738456 ORC1 c.2324A>G p.Q775R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2029974 CHD8 c.5998C>T p.R2000C Substitution - Missense Large_intestine COSM2160417 SFMBT2 c.1868C>T p.A623V Substitution - Missense Large_intestine COSM2732605 PHF2 c.1433C>T p.A478V Substitution - Missense Large_intestine COSM2866756 TRRAP c.7664C>T p.T2555M Substitution - Missense Stomach COSM3360359 TDRD10 c.828G>T p.W276C Substitution - Missense Kidney COSM3387624 CDYL2 c.480C>T p.D160D Substitution - coding silent Pancreas COSM3406620 BRWD3 c.2638C>T p.R880C Substitution - Missense Central_nervous_system COSM3407645 SP110 c.1031G>A p.R344Q Substitution - Missense Central_nervous_system COSM3416894 KMT2D c.15551G>A p.R5184Q Substitution - Missense Large_intestine COSM3626171 BRPF3 c.3200C>T p.P1067L Substitution - Missense Skin COSM3529799 MBD3 c.874T>A p.*292K Nonstop extension Skin COSM3523591 BAHCC1 c.3373G>T p.E1125* Substitution - Nonsense Skin COSM3691394 RAI1 c.3642C>T p.L1214L Substitution - coding silent Large_intestine COSM3672255 CREBBP c.4148G>T p.G1383V Substitution - Missense Prostate COSM3732861 ARID1A c.6391_6392insA p.N2131fs*19 Insertion - Frameshift Stomach COSM3756114 SMCHD1 c.1872A>G p.T624T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3765375 TRRAP c.2878C>T p.R960W Substitution - Missense Breast COSM3805234 SCMH1 c.658G>A p.E220K Substitution - Missense Breast COSM3812834 CHD4 c.3560T>G p.V1187G Substitution - Missense Breast COSM3812837 CHD4 c.3195T>G p.G1065G Substitution - coding silent Breast COSM3796342 AP001011.3_ENST00000320876 c.3094C>G p.P1032A Substitution - Missense Urinary_tract COSM3850365 BRD8 c.3616G>A p.V1206I Substitution - Missense Stomach COSM3900864 CHD7 c.3679A>G p.T1227A Substitution - Missense Stomach COSM3955900 CHD8 c.537G>T p.Q179H Substitution - Missense Lung COSM4003675 NCOA7 c.1195T>G p.S399A Substitution - Missense Large_intestine COSM4054553 MGA c.130A>G p.N44D Substitution - Missense Stomach COSM3984935 ARID1A c.2234G>A p.S745N Substitution - Missense Kidney COSM4098451 CHD6 c.4872G>T p.Q1624H Substitution - Missense Stomach COSM4263951 RAI1 c.849G>A p.Q283Q Substitution - coding silent Large_intestine COSM4383923 TET2 c.3863G>A p.G1288D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4598409 AKAP1 c.988A>G p.S330G Substitution - Missense Upper_aerodigestive_tract COSM4443051 PHF3 c.446G>A p.R149H Substitution - Missense Large_intestine COSM4547465 ORC1 c.423G>A p.K141K Substitution - coding silent Skin COSM4514113 RBBP4 c.963C>T p.F321F Substitution - coding silent Skin COSM4589297 HCFC1 c.1542G>A p.K514K Substitution - coding silent Bone COSM4493096 SETMAR c.409C>T p.L137L Substitution - coding silent Skin COSM4539732 BRWD1 c.2726G>C p.R909T Substitution - Missense Skin COSM4485498 ZBTB4 c.293C>T p.S98F Substitution - Missense Skin COSM4592047 AKAP1 c.1597A>C p.T533P Substitution - Missense Upper_aerodigestive_tract COSM4481809 ZBTB4 c.2547C>T p.D849D Substitution - coding silent Skin COSM4422683 ZGPAT c.1390G>A p.E464K Substitution - Missense Kidney COSM4717870 PRMT2 c.495C>T p.Y165Y Substitution - coding silent Large_intestine COSM4671958 CHD2 c.147T>C p.H49H Substitution - coding silent Large_intestine COSM4742923 ZMYM4 c.2345C>A p.S782Y Substitution - Missense Large_intestine COSM4693825 JHDM1D c.1438G>A p.G480S Substitution - Missense Large_intestine COSM4731001 SUV420H1 c.104C>T p.T35M Substitution - Missense Large_intestine COSM4764961 SMYD3 c.925G>A p.V309I Substitution - Missense Breast COSM4754054 KDM4A c.2738G>A p.R913H Substitution - Missense Stomach COSM4891242 KDM6A c.2983G>T p.E995* Substitution - Nonsense Upper_aerodigestive_tract COSM4919465 TDRD5 c.1130A>T p.Q377L Substitution - Missense Liver COSM4938628 BPTF c.7289C>T p.P2430L Substitution - Missense Liver COSM4878563 SETBP1 c.153C>T p.G51G Substitution - coding silent Biliary_tract COSM4846526 APOBEC1 c.705G>A p.W235* Substitution - Nonsense Skin COSM4951435 KMT2D c.4421G>T p.S1474I Substitution - Missense Liver COSM4969619 ATRX c.1077_1080delGATT p.I360fs*6 Deletion - Frameshift Central_nervous_system COSM5005311 KDM5C c.3401G>A p.G1134E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5036317 KMT2A c.5794-10G>C p.? Unknown Oesophagus COSM5036429 ZBTB38 c.983A>G p.D328G Substitution - Missense Oesophagus COSM5008280 EP400 c.3620G>A p.R1207H Substitution - Missense Large_intestine COSM5093430 ZMYM1 c.1541delA p.S516fs*5 Deletion - Frameshift Large_intestine COSM5047929 KMT2D c.11128C>T p.Q3710* Substitution - Nonsense Oesophagus COSM5044237 MGA c.2425G>T p.G809C Substitution - Missense Liver COSM5399742 BAP1 c.1571_1572CC>TT p.T524I Substitution - Missense Skin COSM5419191 MLL5 c.1136_1137insA p.Y379fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5491928 KDM3B c.3898G>A p.G1300R Substitution - Missense Biliary_tract COSM5505947 DOT1L c.2459C>A p.P820H Substitution - Missense Biliary_tract COSM5479798 SRCAP c.6664G>A p.V2222M Substitution - Missense Large_intestine COSM5576147 TET2 c.4093G>A p.G1365S Substitution - Missense Stomach COSM5608696 EZH2 c.2237G>A p.R746K Substitution - Missense Skin COSM5679632 SP140_ENST00000392045 c.1946G>T p.W649L Substitution - Missense Soft_tissue COSM5565267 ZBTB38 c.791G>A p.R264Q Substitution - Missense Prostate COSM5810714 INTS12 c.1335G>T p.M445I Substitution - Missense Liver COSM5822845 TBL1XR1 c.991A>T p.I331F Substitution - Missense Liver COSM5908313 MINA c.802C>T p.L268F Substitution - Missense Skin COSM5987217 NCOR1 c.1977_1978insA p.A660fs*4 Insertion - Frameshift Salivary_gland COSM5992572 RERE c.2678A>G p.Y893C Substitution - Missense Prostate COSM5995589 PHF17 c.2374A>G p.S792G Substitution - Missense Prostate COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM1238048 ARID1A c.? p.Q1363* Substitution - Nonsense Urinary_tract COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51384 IDH1 c.? p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM5946128 MEN1 c.? p.K454fs*? Deletion - Frameshift Pituitary COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM698268 ARID4A c.1391T>G p.L464* Substitution - Nonsense Lung COSM944177 AICDA c.466G>A p.E156K Substitution - Missense Endometrium COSM5347649 MBD6 c.1849_1855delCCTCCCA p.P617fs*56 Deletion - Frameshift Liver COSM1728101 AKAP1 c.1263G>T p.L421F Substitution - Missense Liver COSM3729906 MBD4 c.939delA p.E314fs*4 Deletion - Frameshift Large_intestine COSM4118117 DHX30 c.2911A>T p.S971C Substitution - Missense Stomach COSM1476338 EP400 c.2494C>T p.R832W Substitution - Missense Breast COSM200503 TET2 c.2391C>T p.F797F Substitution - coding silent Endometrium COSM4208069 KMT2D c.7623G>A p.Q2541Q Substitution - coding silent Large_intestine COSM1172535 BAHCC1 c.3192G>T p.M1064I Substitution - Missense Oesophagus COSM26918 HDAC4 c.3073+1G>A p.? Unknown Breast COSM5696749 KDM6A c.3736+2T>C p.? Unknown Soft_tissue COSM4104703 PHF21B c.450C>T p.Y150Y Substitution - coding silent Stomach COSM3667363 ASH1L c.4091C>T p.P1364L Substitution - Missense Liver COSM678672 SMYD2 c.144G>T p.R48R Substitution - coding silent Lung COSM80332 PHF2 c.936C>T p.T312T Substitution - coding silent Ovary COSM3369319 ASH1L c.8713A>G p.T2905A Substitution - Missense Thyroid COSM1384609 AKAP1 c.1121G>A p.R374H Substitution - Missense Large_intestine COSM4771494 KMT2C c.12569G>C p.S4190T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4170759 CREBBP c.3982+2T>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4393322 SETDB1 c.3862G>C p.G1288R Substitution - Missense Prostate COSM5711765 ATRX c.6675G>T p.K2225N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM727028 EP300 c.4241A>G p.Y1414C Substitution - Missense Oesophagus COSM5500336 PRMT10 c.238C>T p.L80F Substitution - Missense Biliary_tract COSM4954983 INO80B c.843G>T p.T281T Substitution - coding silent Liver COSM1123026 SMC1A c.3058A>G p.I1020V Substitution - Missense Endometrium COSM254548 ARID1A c.1850C>G p.S617* Substitution - Nonsense Urinary_tract COSM430521 HNF1A c.51C>G p.L17L Substitution - coding silent Liver COSM87011 DNMT3A c.2141C>G p.S714C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1049164 BRPF1 c.3566A>G p.N1189S Substitution - Missense Endometrium COSM3399235 ING1 c.230C>T p.A77V Substitution - Missense Large_intestine COSM4713900 PHC2 c.1620C>T p.N540N Substitution - coding silent Large_intestine COSM3621298 SHPRH c.2307C>T p.I769I Substitution - coding silent Skin COSM20436 TAF1L c.1994delA p.K665fs*4 Deletion - Frameshift Stomach COSM3562340 SMC1A c.686A>C p.Y229S Substitution - Missense Skin COSM4044311 CHD4 c.4127A>G p.D1376G Substitution - Missense Stomach COSM4901557 PRDM1 c.707C>T p.S236L Substitution - Missense Skin COSM1173088 KDM3B c.5065C>T p.H1689Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3687567 KDM2A c.485C>T p.T162M Substitution - Missense Large_intestine COSM390826 SETD5_ENST00000402198 c.3362G>C p.R1121P Substitution - Missense Lung COSM1034750 TCF20 c.5876G>A p.R1959Q Substitution - Missense Prostate COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3848328 TAF1L c.4320C>T p.I1440I Substitution - coding silent Pancreas COSM95063 PRDM16 c.1404G>A p.M468I Substitution - Missense Lung COSM4590120 KDM4B c.2128A>G p.K710E Substitution - Missense Upper_aerodigestive_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Biliary_tract COSM3939577 SMARCB1 c.206G>A p.G69D Substitution - Missense Oesophagus COSM5347108 ARID1A c.342C>G p.N114K Substitution - Missense Endometrium COSM4511716 KMT2D c.7978C>T p.P2660S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3777799 PHF3 c.310G>A p.E104K Substitution - Missense Urinary_tract COSM3812562 SMARCC2 c.1606G>A p.D536N Substitution - Missense Breast COSM5801147 NCOR1 c.1572_1573insA p.T525fs*11 Insertion - Frameshift Breast COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM110783 TET2 c.2147_2147delC p.S716fs*35 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM88781 EP300 c.4517G>T p.G1506V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4767425 ARID2 c.3841G>T p.G1281W Substitution - Missense Biliary_tract COSM5930414 ARID1A c.2095C>T p.P699S Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4959205 JMJD6 c.618G>A p.W206* Substitution - Nonsense Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM908335 PRDM16 c.709G>A p.E237K Substitution - Missense Skin COSM4669279 CARM1 c.1478C>T p.S493L Substitution - Missense Large_intestine COSM3508929 SRCAP c.8716C>T p.P2906S Substitution - Missense Skin COSM41292 IDH1 c.? p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4597323 CBX4 c.712A>C p.K238Q Substitution - Missense Upper_aerodigestive_tract COSM41294 IDH1 c.? p.R132C Substitution - Missense Bone COSM581437 MBD4 c.752G>T p.R251M Substitution - Missense Large_intestine COSM4160075 PRDM13 c.1298G>T p.R433L Substitution - Missense Thyroid COSM5945319 CREBBP c.1780G>T p.E594* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4118122 DHX30 c.3489C>T p.S1163S Substitution - coding silent Stomach COSM285644 TDRD7 c.3122G>A p.R1041Q Substitution - Missense Large_intestine COSM3940596 PBRM1 c.1855A>T p.K619* Substitution - Nonsense Oesophagus COSM3365793 LMNB1 c.980T>C p.L327S Substitution - Missense Kidney COSM5717478 TAF1L c.1462C>T p.P488S Substitution - Missense Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM72926 TBL1XR1 c.281C>G p.T94R Substitution - Missense Ovary COSM1018661 ATAD2B_ENST00000238789 c.1699G>T p.E567* Substitution - Nonsense Endometrium COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4150510 ATAD2 c.709A>T p.N237Y Substitution - Missense Ovary COSM1041418 TBL1XR1 c.500G>A p.G167D Substitution - Missense Endometrium COSM3750192 PHF2 c.2964G>T p.P988P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4970809 PRDM9 c.131G>T p.G44V Substitution - Missense Central_nervous_system COSM128640 NSD1 c.3698delG p.L1234fs*1 Deletion - Frameshift Upper_aerodigestive_tract COSM1719242 KDM1B c.1531G>A p.E511K Substitution - Missense Skin COSM1721470 ALKBH3 c.544C>T p.R182C Substitution - Missense Oesophagus COSM1215014 MGA c.7333C>T p.R2445* Substitution - Nonsense Skin COSM5944124 ASXL1 c.1925G>A p.G642E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1443747 RING1 c.511delG p.E173fs*14 Deletion - Frameshift Large_intestine COSM270310 TCF20 c.2397T>C p.A799A Substitution - coding silent Large_intestine COSM4839420 ASH1L c.5169A>C p.Q1723H Substitution - Missense Cervix COSM4842143 CHD7 c.7843G>C p.V2615L Substitution - Missense Cervix COSM4046356 ZMYM2 c.2095G>A p.V699I Substitution - Missense Stomach COSM5737797 SHPRH c.2701T>C p.W901R Substitution - Missense Small_intestine COSM42059 TET2 c.5564_5573del10 p.L1855fs*29 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM418733 TRIM28 c.1747G>A p.E583K Substitution - Missense Urinary_tract COSM4507077 KMT2D c.6562C>T p.Q2188* Substitution - Nonsense Skin COSM5031022 KDM6A c.?_?delA p.?fs Deletion - Frameshift Central_nervous_system COSM2008714 SMARCD1 c.1361G>A p.R454Q Substitution - Missense Large_intestine COSM4092251 SP140_ENST00000392045 c.474A>G p.L158L Substitution - coding silent Stomach COSM1454661 ATAD2 c.638_639+1delAAG p.? Unknown Large_intestine COSM4467958 ZMYM1 c.1517C>T p.T506I Substitution - Missense Skin COSM53219 ASXL1 c.3764C>G p.S1255* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3875674 PHIP c.2101A>T p.M701L Substitution - Missense Stomach COSM150251 STK31 c.1417-10C>A p.? Unknown Stomach COSM1290797 AP001011.3_ENST00000320876 c.1843G>A p.V615I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3705049 ASH1L c.5992G>A p.V1998I Substitution - Missense Liver COSM4384692 KMT2D c.15140A>G p.Y5047C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4558069 JHDM1D c.753G>A p.V251V Substitution - coding silent Skin COSM1317671 TDRD10 c.578G>A p.R193H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5824754 DAXX c.310G>T p.E104* Substitution - Nonsense Pancreas COSM5490947 CHD3 c.4949delG p.E1652fs*27 Deletion - Frameshift Biliary_tract COSM133047 EZH2 c.394C>T p.P132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2155236 SETBP1 c.4362C>T p.R1454R Substitution - coding silent Central_nervous_system COSM1685052 KMT2D c.6346C>T p.R2116W Substitution - Missense Lung COSM5927175 POGZ c.4054T>C p.S1352P Substitution - Missense Skin COSM3858216 L3MBTL3 c.178G>A p.A60T Substitution - Missense Stomach COSM1051179 PHF17 c.595G>A p.E199K Substitution - Missense Endometrium COSM1296224 ARID1A c.3598C>T p.Q1200* Substitution - Nonsense Skin COSM271218 DNMT3A c.841G>A p.E281K Substitution - Missense Large_intestine COSM5817096 MYST3 c.4984C>T p.P1662S Substitution - Missense Liver COSM5404343 L3MBTL3 c.663G>A p.K221K Substitution - coding silent Skin COSM746379 STK31 c.1509T>G p.C503W Substitution - Missense Lung COSM5912245 HDAC3 c.308T>A p.F103Y Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5676638 PRDM12 c.430G>A p.G144S Substitution - Missense Soft_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM27396 HNF1A c.1042delC p.L348fs*16 Deletion - Frameshift Endometrium COSM1193069 PHF23 c.482_483insC p.A162fs*70 Insertion - Frameshift Lung COSM3824713 SETD5_ENST00000402198 c.2798G>T p.R933I Substitution - Missense Breast COSM4040292 EP400 c.7940C>T p.A2647V Substitution - Missense Stomach COSM4043655 BAZ2A c.5156G>A p.R1719Q Substitution - Missense Stomach COSM703468 CHD9 c.3198G>T p.Q1066H Substitution - Missense Lung COSM1075345 ARID1B c.1980delC p.P661fs*13 Deletion - Frameshift Endometrium COSM4776410 NCOA6 c.3092A>G p.Q1031R Substitution - Missense Soft_tissue COSM363427 PHF14 c.1110A>T p.E370D Substitution - Missense Lung COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM41293 IDH1 c.? p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3194741 AKAP1 c.470T>C p.F157S Substitution - Missense Large_intestine COSM1684835 SETBP1 c.? p.S869R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4110088 KDM5C c.407G>A p.R136Q Substitution - Missense Stomach COSM5836816 EPC1 c.1040C>T p.S347L Substitution - Missense Skin COSM50549 TDRD6 c.726C>G p.F242L Substitution - Missense Breast COSM41293 IDH1 c.? p.R132S Substitution - Missense Bone COSM1703067 TDRD1 c.1073C>T p.P358L Substitution - Missense Skin COSM268500 KMT2A c.6235G>A p.V2079I Substitution - Missense Stomach COSM5945265 KMT2D c.3516T>A p.C1172* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM52848 PBRM1 c.1937_1955del19 p.G646fs*4 Deletion - Frameshift Kidney COSM3848126 EHMT1 c.784A>G p.M262V Substitution - Missense Breast COSM42046 TET2 c.3967G>T p.E1323* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1754579 SHPRH c.681G>C p.L227F Substitution - Missense Urinary_tract COSM697922 BAZ1A c.4094A>G p.N1365S Substitution - Missense Lung COSM1311241 C5orf35 c.115C>G p.P39A Substitution - Missense Urinary_tract COSM1716839 DNMT3A c.? p.S663fs*42 Unknown Haematopoietic_and_lymphoid_tissue COSM4694972 KDM4B c.3172G>A p.A1058T Substitution - Missense Large_intestine COSM747178 BAZ1B c.3547G>T p.E1183* Substitution - Nonsense Lung COSM5019618 DAXX c.1137T>C p.Y379Y Substitution - coding silent Soft_tissue COSM126806 KMT2C c.12835C>T p.Q4279* Substitution - Nonsense Breast COSM4957656 PYGO1 c.663T>C p.S221S Substitution - coding silent Liver COSM1126918 BRDT c.1645C>T p.P549S Substitution - Missense Prostate COSM1628643 KMT2D c.5299+3A>T p.? Unknown Liver COSM1372837 MGA c.7871_7872insA p.D2627fs*45 Insertion - Frameshift Large_intestine COSM22032 NCOA6 c.3178C>T p.P1060S Substitution - Missense Breast COSM1087588 KMT2C c.6082C>T p.R2028* Substitution - Nonsense Endometrium COSM5691776 RAG2 c.385T>A p.L129M Substitution - Missense Soft_tissue COSM972472 CTCF c.538C>T p.Q180* Substitution - Nonsense Endometrium COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4029667 KDM1A c.943C>A p.R315R Substitution - coding silent Stomach COSM5006972 RAG2 c.756G>C p.L252F Substitution - Missense Large_intestine COSM3865336 PRDM16 c.2398G>A p.E800K Substitution - Missense Skin COSM4525429 SMARCC1 c.132G>C p.E44D Substitution - Missense Skin COSM1602234 PHC2 c.2533G>A p.A845T Substitution - Missense Liver COSM3374573 KMT2C c.5864C>T p.S1955F Substitution - Missense Thyroid COSM426322 KDM4A c.1495C>T p.L499F Substitution - Missense Breast COSM146123 ZMYM1 c.347C>G p.P116R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1685722 GLYR1 c.695_696insA p.Y232fs*1 Insertion - Frameshift Skin COSM2230149 PRDM2 c.4146C>T p.G1382G Substitution - coding silent Stomach COSM4383517 DNMT3A c.2728G>C p.A910P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3804974 RBBP4 c.51C>A p.I17I Substitution - coding silent Breast COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1072912 NCOA7 c.343G>A p.E115K Substitution - Missense Endometrium COSM5950976 SRCAP c.4100C>T p.T1367I Substitution - Missense Prostate COSM3428944 KDM3B c.1861C>A p.L621I Substitution - Missense Large_intestine COSM680966 ZMYM1 c.2869A>T p.T957S Substitution - Missense Lung COSM51900 HDAC9 c.2770C>A p.P924T Substitution - Missense Kidney COSM5673643 HDAC4 c.986T>C p.L329S Substitution - Missense Soft_tissue COSM5725536 RTF1 c.1611C>T p.H537H Substitution - coding silent Skin COSM1559266 TRIM33 c.1887C>A p.P629P Substitution - coding silent Central_nervous_system COSM4031596 PHC2 c.562C>T p.L188L Substitution - coding silent Stomach COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1620271 NIPBL c.4776+9A>G p.? Unknown Liver COSM1587025 ZMYM2 c.1765C>T p.R589* Substitution - Nonsense Endometrium COSM1728997 RSF1 c.3656A>G p.E1219G Substitution - Missense Liver COSM3508220 GTF3C1 c.3710C>T p.P1237L Substitution - Missense Skin COSM5768728 SET c.424G>T p.E142* Substitution - Nonsense Breast COSM1750410 KDM6B c.4383C>T p.L1461L Substitution - coding silent Urinary_tract COSM1743594 MYST2 c.1367T>G p.L456R Substitution - Missense Biliary_tract COSM5739639 KMT2D c.7984C>T p.Q2662* Substitution - Nonsense Small_intestine COSM4031166 EYA3 c.737C>T p.A246V Substitution - Missense Stomach COSM1388364 SMCHD1 c.2170G>T p.D724Y Substitution - Missense Large_intestine COSM5421990 CHD7 c.5300+1G>T p.? Unknown Prostate COSM1087433 SMARCD3 c.1111_1113delGAG p.E371delE Deletion - In frame Endometrium COSM3921352 TCF19 c.951C>T p.F317F Substitution - coding silent Skin COSM3662384 BAG6 c.2871T>G p.A957A Substitution - coding silent Liver COSM1244723 AKAP1 c.1821C>T p.L607L Substitution - coding silent Oesophagus COSM53009 EZH2 c.2079T>A p.N693K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1735601 BRD9 c.1390G>A p.D464N Substitution - Missense Pancreas COSM931218 SUV420H1 c.659G>A p.R220Q Substitution - Missense Skin COSM1030683 BRWD1 c.5525T>A p.M1842K Substitution - Missense Endometrium COSM4162016 KMT2C c.2352C>A p.S784S Substitution - coding silent Large_intestine COSM4397587 ORC1 c.1132C>T p.R378C Substitution - Missense Skin COSM5775497 FTO c.628C>T p.Q210* Substitution - Nonsense Breast COSM955454 BAZ1A c.4438C>T p.R1480C Substitution - Missense Stomach COSM2191126 RAD54L c.1621G>A p.V541I Substitution - Missense Large_intestine COSM82308 PRDM2 c.2694C>T p.G898G Substitution - coding silent Ovary COSM4698231 LMNB1 c.436G>T p.D146Y Substitution - Missense Large_intestine COSM4717522 PRDM9 c.630C>T p.N210N Substitution - coding silent Large_intestine COSM5924903 BAZ2B c.4802C>T p.P1601L Substitution - Missense Skin COSM5574966 SETD7 c.143G>A p.R48Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5637769 PRDM8 c.283G>T p.A95S Substitution - Missense Oesophagus COSM1245997 BAZ2A c.1439C>T p.A480V Substitution - Missense Oesophagus COSM1266238 SMARCA4 c.3575G>A p.R1192H Substitution - Missense Oesophagus COSM3734739 ARID1A c.? p.Y215* Substitution - Nonsense Urinary_tract COSM373515 ASH1L c.8748G>T p.R2916R Substitution - coding silent Lung COSM3515529 PHF12 c.1586C>T p.S529F Substitution - Missense Skin COSM3982624 TDRD7 c.33A>G p.L11L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3877918 SND1 c.2304+1G>A p.? Unknown Stomach COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Soft_tissue COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Soft_tissue COSM4152461 SETD2 c.3038G>C p.C1013S Substitution - Missense Kidney COSM305319 KDM6A c.618_619+2delAAGT p.? Unknown Breast COSM3780930 EP400 c.6521G>A p.R2174Q Substitution - Missense Pancreas COSM1048018 ATXN7 c.1430C>A p.P477Q Substitution - Missense Endometrium COSM4158097 DHX30 c.3183C>T p.T1061T Substitution - coding silent Thyroid COSM4736018 TRIM28 c.2294T>G p.V765G Substitution - Missense Large_intestine COSM245972 NCOR1 c.2182+2T>G p.? Unknown Prostate COSM5686752 PRDM9 c.710G>T p.R237L Substitution - Missense Soft_tissue COSM1049744 TET2 c.824A>G p.N275S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3752976 KDM2B c.2487G>A p.Q829Q Substitution - coding silent Large_intestine COSM305966 EED c.776C>T p.S259F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3987325 MPHOSPH8 c.2486C>A p.P829H Substitution - Missense Kidney COSM37029 EZH2 c.1937A>C p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM681092 PRDM16 c.1161C>A p.I387I Substitution - coding silent Lung COSM4448237 BAHCC1 c.2439C>T p.P813P Substitution - coding silent Skin COSM5606488 DOT1L c.4392C>T p.F1464F Substitution - coding silent Skin COSM4664632 ATRX c.2581G>C p.D861H Substitution - Missense Large_intestine COSM5900197 SFMBT2 c.41C>T p.S14L Substitution - Missense Skin COSM4493395 TRRAP c.4146C>T p.S1382S Substitution - coding silent Skin COSM1451627 ACTB c.302A>G p.H101R Substitution - Missense Large_intestine COSM3555262 PHF21B c.1387G>A p.E463K Substitution - Missense Skin COSM3517619 KAT2A c.743C>T p.P248L Substitution - Missense Skin COSM222118 HDAC9 c.2045G>A p.R682Q Substitution - Missense Endometrium COSM5908758 HDAC9 c.1657G>A p.E553K Substitution - Missense Skin COSM3821889 CARM1 c.1452A>C p.P484P Substitution - coding silent Breast COSM364558 DIDO1 c.3957G>A p.Q1319Q Substitution - coding silent Lung COSM87175 TET2 c.5128_5131delACCA p.T1710fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4551735 CDYL2 c.538G>A p.D180N Substitution - Missense Skin COSM4603317 KMT2D c.10364_10365insTGCAGC p.Q3455>HAA Complex - insertion inframe Upper_aerodigestive_tract COSM5675095 GLYATL1 c.264delC p.R89fs*7 Deletion - Frameshift Soft_tissue COSM3754330 TP53BP1 c.3406A>C p.K1136Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5599941 KMT2D c.7252G>T p.E2418* Substitution - Nonsense Skin COSM737602 NSD1 c.3161G>C p.R1054T Substitution - Missense Lung COSM5558803 KMT2D c.4701C>T p.L1567L Substitution - coding silent Prostate COSM1617861 BAP1 c.2137C>T p.R713W Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM740040 EYA4 c.811C>G p.P271A Substitution - Missense Lung COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4666116 BRD4 c.468C>A p.L156L Substitution - coding silent Large_intestine COSM4466383 LMNA c.1431C>T p.P477P Substitution - coding silent Skin COSM716465 EPC2 c.1805A>T p.Q602L Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM110818 BAP1 c.1_2190del2190 p.0? Whole gene deletion Pleura COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM436095 NCOR1 c.2065A>T p.K689* Substitution - Nonsense Breast COSM4851043 PRDM9 c.595G>A p.D199N Substitution - Missense Cervix COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2692779 CDYL2 c.463G>A p.G155R Substitution - Missense Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4116758 ZCWPW2 c.966A>G p.E322E Substitution - coding silent Stomach COSM990755 SMARCA4 c.3374G>T p.R1125M Substitution - Missense Endometrium COSM1308212 EP300 c.6123C>G p.L2041L Substitution - coding silent Urinary_tract COSM1122178 HDAC6 c.98G>A p.R33Q Substitution - Missense Endometrium COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3758097 HDAC4 c.1566G>A p.P522P Substitution - coding silent Large_intestine COSM745865 KMT2C c.5371C>T p.Q1791* Substitution - Nonsense Lung COSM4497834 KMT2A c.5054C>T p.S1685F Substitution - Missense Skin COSM227395 CHD6 c.242G>A p.G81E Substitution - Missense Skin COSM362889 SETD1A c.3119G>C p.S1040T Substitution - Missense Lung COSM33732 IDH2 c.515G>T p.R172M Substitution - Missense Central_nervous_system COSM3712629 INO80C c.347G>C p.R116T Substitution - Missense Upper_aerodigestive_tract COSM3382243 ASH2L c.1594A>T p.S532C Substitution - Missense Pancreas COSM1632485 BRWD1 c.2428C>A p.R810S Substitution - Missense Liver COSM1095748 ATAD2 c.2812C>A p.L938I Substitution - Missense Endometrium COSM3835246 TDRD7 c.2006G>T p.C669F Substitution - Missense Breast COSM3559630 HCFC1 c.2648C>T p.S883F Substitution - Missense Skin COSM3788493 TTF2 c.2151C>G p.L717L Substitution - coding silent Urinary_tract COSM1692140 SP110 c.911C>T p.S304F Substitution - Missense Skin COSM904640 LBR c.1670C>T p.A557V Substitution - Missense Endometrium COSM5498851 DHX30 c.3209G>A p.R1070Q Substitution - Missense Biliary_tract COSM1673716 KMT2C c.1256A>G p.Q419R Substitution - Missense Large_intestine COSM23001 MEN1 c.1116delC p.N374fs*3 Deletion - Frameshift Lung COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Stomach COSM438126 SETBP1 c.4704C>G p.P1568P Substitution - coding silent Breast COSM5504431 DOT1L c.1781G>A p.G594D Substitution - Missense Biliary_tract COSM22600 MEN1 c.1606C>T p.Q536* Substitution - Nonsense Oesophagus COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM36205 ASXL1 c.3306G>T p.E1102D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM51459 ARID1A c.4640_4640delC p.H1548fs*17 Deletion - Frameshift Ovary COSM51223 ARID1A c.4635G>A p.W1545* Substitution - Nonsense Ovary COSM95632 MLLT6 c.2188C>T p.Q730* Substitution - Nonsense Breast COSM116351 SMYD4 c.2390C>A p.P797H Substitution - Missense Large_intestine COSM96357 BAP1 c.1972A>T p.K658* Substitution - Nonsense Pleura COSM126336 SMYD1 c.235C>A p.Q79K Substitution - Missense Upper_aerodigestive_tract COSM149732 PRDM5 c.1234T>C p.L412L Substitution - coding silent Large_intestine COSM165976 SMCHD1 c.13_14delAG p.E6fs*10 Deletion - Frameshift Breast COSM168758 TIF1 c.2059C>T p.R687* Substitution - Nonsense Large_intestine COSM238990 BTAF1 c.4547T>G p.I1516S Substitution - Missense Prostate COSM252813 SIRT5 c.4C>T p.R2* Substitution - Nonsense Large_intestine COSM254626 CREBBP c.3874C>T p.Q1292* Substitution - Nonsense Urinary_tract COSM254811 KMT2A c.4437C>G p.C1479W Substitution - Missense Urinary_tract COSM255053 EP300 c.4377_4388del12 p.P1460_L1463delPKRL Deletion - In frame Urinary_tract COSM309006 AICDA c.319A>T p.R107W Substitution - Missense Lung COSM322807 PRDM9 c.1544G>C p.G515A Substitution - Missense Lung COSM320536 GABRG1 c.968C>A p.S323Y Substitution - Missense Lung COSM337942 PRDM9 c.1465G>T p.V489L Substitution - Missense Lung COSM384137 CHD7 c.4894C>T p.R1632C Substitution - Missense Lung COSM431974 PHC1 c.1254T>C p.A418A Substitution - coding silent Breast COSM459486 KMT2D c.14447G>A p.R4816Q Substitution - Missense Cervix COSM984404 ZBTB4 c.2689G>T p.G897W Substitution - Missense Endometrium COSM485541 BAZ1B c.1059G>C p.V353V Substitution - coding silent Kidney COSM693708 KMT2D c.12834C>T p.S4278S Substitution - coding silent Lung COSM940096 KMT2D c.765C>T p.C255C Substitution - coding silent Endometrium COSM754854 MORF4L2 c.854G>A p.R285H Substitution - Missense Lung COSM724837 DIDO1 c.4413C>T p.S1471S Substitution - coding silent Lung COSM729707 FXR1 c.802-1G>A p.? Unknown Lung COSM990750 SMARCA4 c.2758G>A p.E920K Substitution - Missense Skin COSM1000723 EZH2 c.1876G>A p.V626M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1035251 BRD1 c.1147G>A p.A383T Substitution - Missense Endometrium COSM1058051 PRDM8 c.564T>C p.S188S Substitution - coding silent Endometrium COSM1066320 NSD1 c.7908C>G p.L2636L Substitution - coding silent Endometrium COSM1078036 PHF1 c.331C>T p.R111C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1125821 BRWD3 c.4189A>T p.I1397L Substitution - Missense Endometrium COSM1093684 TRRAP c.8511C>T p.C2837C Substitution - coding silent Large_intestine COSM1087556 KMT2C c.9441G>T p.Q3147H Substitution - Missense Endometrium COSM1085179 SND1 c.733G>T p.A245S Substitution - Missense Endometrium COSM1239441 KMT2C c.5883C>T p.D1961D Substitution - coding silent Oesophagus COSM1180830 CTCF c.603_604insA p.T204fs*26 Insertion - Frameshift Stomach COSM1195446 BAZ2A_ENST00000379441 c.1492G>A p.V498I Substitution - Missense Lung COSM1195910 NCOA1 c.770C>T p.T257M Substitution - Missense Lung COSM1257795 KMT2C c.7561G>A p.D2521N Substitution - Missense Stomach COSM1263635 PYGO1 c.94C>A p.L32I Substitution - Missense Oesophagus COSM1176632 TRDMT1 c.769C>A p.L257I Substitution - Missense Endometrium COSM1223544 RERE c.3382A>G p.S1128G Substitution - Missense Large_intestine COSM1225435 SFMBT2 c.1849C>T p.R617W Substitution - Missense Large_intestine COSM1311073 PRDM9 c.627G>C p.Q209H Substitution - Missense Urinary_tract COSM1296009 KDM1A c.2410A>G p.I804V Substitution - Missense Urinary_tract COSM1296339 ZMYM1 c.3263C>A p.S1088Y Substitution - Missense Urinary_tract COSM1425794 BRPF1 c.2505G>T p.T835T Substitution - coding silent Large_intestine COSM1437262 NIPBL c.1801delA p.K603fs*11 Deletion - Frameshift Large_intestine COSM1462636 KIAA2026_ENST00000399933 c.5452G>T p.G1818C Substitution - Missense Large_intestine COSM1461726 SMARCA2 c.2459G>A p.S820N Substitution - Missense Large_intestine COSM1512174 ARID2 c.820C>T p.R274* Substitution - Nonsense Skin COSM1565740 NCOA3 c.3765G>A p.Q1255Q Substitution - coding silent Skin COSM1615834 DIDO1 c.1399C>A p.H467N Substitution - Missense Liver COSM1587029 ZMYM2 c.1040G>A p.R347Q Substitution - Missense Biliary_tract COSM1636457 SCML2 c.971G>T p.C324F Substitution - Missense Liver COSM1640881 CHD3 c.811C>T p.R271W Substitution - Missense Prostate COSM1681613 DNMT3B c.2020G>A p.E674K Substitution - Missense Large_intestine COSM1710673 BPTF c.977G>A p.W326* Substitution - Nonsense Skin COSM1698423 STK31 c.1975C>T p.P659S Substitution - Missense Skin COSM1702762 BTAF1 c.893C>T p.S298F Substitution - Missense Skin COSM1716892 ASXL1 c.3506_3507insT p.L1170fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1736770 ING2 c.642C>G p.Y214* Substitution - Nonsense Central_nervous_system COSM1743781 MGMT c.79G>T p.G27C Substitution - Missense Biliary_tract COSM1747801 ASH1L c.3809G>A p.R1270Q Substitution - Missense Large_intestine COSM1732197 KDM5C c.1104C>A p.C368* Substitution - Nonsense Kidney COSM1936431 BAZ2A c.5771G>A p.R1924H Substitution - Missense Large_intestine COSM2150638 TDRD6 c.3138T>A p.D1046E Substitution - Missense Central_nervous_system COSM2270834 MGA c.4267C>T p.P1423S Substitution - Missense Skin COSM2270153 INOC1 c.3697C>T p.R1233C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2813773 SMARCA4 c.4091_4093delAGA p.K1365delK Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM3153094 EP300 c.1268A>C p.K423T Substitution - Missense Large_intestine COSM3237296 KDM3B c.1475C>G p.S492C Substitution - Missense Liver COSM3262431 KMT2C c.13563C>G p.V4521V Substitution - coding silent Large_intestine COSM3253685 BAG6 c.2100G>T p.Q700H Substitution - Missense Large_intestine COSM3296137 MBD5 c.1536C>T p.S512S Substitution - coding silent Skin COSM3365367 BAP1 c.67+1G>C p.? Unknown Kidney COSM3384307 PRMT8 c.59C>T p.A20V Substitution - Missense Pancreas COSM3396759 KIAA1045 c.998C>T p.S333F Substitution - Missense Prostate COSM3496145 METTL21D c.682C>T p.P228S Substitution - Missense Skin COSM3492894 RERE c.4328C>T p.P1443L Substitution - Missense Skin COSM3430084 SHPRH c.4925T>C p.I1642T Substitution - Missense Large_intestine COSM3418025 SETDB1 c.2410C>T p.R804W Substitution - Missense Large_intestine COSM3447097 RAG2 c.447G>A p.G149G Substitution - coding silent Skin COSM3622269 ARID1B c.2348C>T p.S783F Substitution - Missense Skin COSM3627971 TDRD6 c.6210C>T p.N2070N Substitution - coding silent Skin COSM3598272 BRPF1 c.3174C>T p.S1058S Substitution - coding silent Skin COSM3589844 MECOM c.2502G>A p.A834A Substitution - coding silent Skin COSM3583823 KDM3A c.3076G>T p.G1026* Substitution - Nonsense Skin COSM3562463 PHF8 c.261C>T p.F87F Substitution - coding silent Skin COSM3676500 BAZ2A_ENST00000379441 c.719T>G p.L240R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3668126 ASXL3 c.1461C>T p.S487S Substitution - coding silent Liver COSM3703194 HDAC9 c.2253C>T p.S751S Substitution - coding silent Liver COSM3712394 AKAP1 c.1842G>T p.V614V Substitution - coding silent Upper_aerodigestive_tract COSM3770402 PRDM9 c.250C>T p.Q84* Substitution - Nonsense Soft_tissue COSM3775403 BRPF1 c.2635+2T>C p.? Unknown Urinary_tract COSM3786739 HDAC6 c.514G>A p.D172N Substitution - Missense Large_intestine COSM3935380 PRDM10 c.2806C>T p.Q936* Substitution - Nonsense Oesophagus COSM3842762 EP300 c.4608A>T p.E1536D Substitution - Missense Breast COSM3844736 KDM6A c.3259A>G p.N1087D Substitution - Missense Breast COSM3841278 ADNP c.2618A>G p.D873G Substitution - Missense Breast COSM3901390 EYA1 c.214A>G p.S72G Substitution - Missense Stomach COSM4015094 JMJD1C c.5598G>A p.R1866R Substitution - coding silent Stomach COSM4023067 ASH1L c.1323T>C p.S441S Substitution - coding silent Stomach COSM4080152 PRMT1 c.936C>T p.G312G Substitution - coding silent Stomach COSM4067845 MBTD1 c.146A>G p.E49G Substitution - Missense Stomach COSM4063722 PRDM7 c.117G>A p.G39G Substitution - coding silent Stomach COSM4169943 DNMT3A c.2198A>G p.E733G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4381931 KMT2C c.943G>T p.G315C Substitution - Missense Central_nervous_system COSM4387055 PSIP1 c.540_541delAG p.G181fs*28 Deletion - Frameshift Lung COSM4384708 KMT2D c.11549G>A p.G3850D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4402337 PHRF1 c.2307C>T p.V769V Substitution - coding silent Skin COSM4596701 ZMYND8 c.3293C>T p.S1098F Substitution - Missense Upper_aerodigestive_tract COSM4604674 PBRM1 c.2036G>T p.R679L Substitution - Missense Upper_aerodigestive_tract COSM4604808 KMT2C c.2318C>T p.S773L Substitution - Missense Upper_aerodigestive_tract COSM4594560 KMT2C c.2591A>G p.E864G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4493105 SMYD5 c.61C>T p.P21S Substitution - Missense Skin COSM4432285 MTA2 c.1070A>G p.N357S Substitution - Missense Oesophagus COSM4504184 KMT2D c.5775C>T p.T1925T Substitution - coding silent Large_intestine COSM4542343 KAT6B c.3168G>A p.G1056G Substitution - coding silent Skin COSM4592047 AKAP1 c.1597A>C p.T533P Substitution - Missense Upper_aerodigestive_tract COSM4469938 KAT6B c.1629C>T p.L543L Substitution - coding silent Skin COSM4703010 MPHOSPH8 c.2009C>T p.A670V Substitution - Missense Large_intestine COSM4717444 PRDM10 c.2381C>T p.A794V Substitution - Missense Large_intestine COSM4694871 KDM2A c.158T>G p.F53C Substitution - Missense Large_intestine COSM4660055 ADNP c.1981A>G p.T661A Substitution - Missense Large_intestine COSM4725152 SETD2 c.4391G>A p.G1464D Substitution - Missense Large_intestine COSM4620481 JARID2 c.3559G>C p.E1187Q Substitution - Missense Large_intestine COSM4647467 RSF1 c.3782A>G p.D1261G Substitution - Missense Large_intestine COSM4635297 PRDM13 c.50G>A p.C17Y Substitution - Missense Large_intestine COSM4652148 KDM2B c.2196C>T p.N732N Substitution - coding silent Large_intestine COSM4793506 KDM1A c.240C>T p.S80S Substitution - coding silent Liver COSM4789899 AP001011.3_ENST00000320876 c.5497G>A p.D1833N Substitution - Missense Liver COSM4938564 TDRD6 c.2128G>A p.A710T Substitution - Missense Liver COSM4933258 KDM6B c.2070C>T p.I690I Substitution - coding silent Liver COSM4880010 MYST3 c.1534A>G p.I512V Substitution - Missense Prostate COSM4855453 MUM1 c.172G>A p.E58K Substitution - Missense Cervix COSM4828532 TBL1XR1 c.1097C>T p.S366F Substitution - Missense Cervix COSM4879116 MLL5 c.5255C>T p.S1752L Substitution - Missense Prostate COSM4813979 CHD4 c.946G>C p.D316H Substitution - Missense Breast COSM4809026 WHSC1 c.1458G>T p.L486L Substitution - coding silent Pancreas COSM5027732 MPHOSPH8 c.2100G>C p.Q700H Substitution - Missense Breast COSM5057844 EP300 c.1880C>T p.A627V Substitution - Missense Prostate COSM5400132 MINA c.150G>A p.K50K Substitution - coding silent Skin COSM5364094 KDM6B c.3487G>A p.A1163T Substitution - Missense Large_intestine COSM5386856 AKAP1 c.2031G>A p.E677E Substitution - coding silent Skin COSM5465988 SETD5_ENST00000402198 c.2302C>T p.R768* Substitution - Nonsense Large_intestine COSM5757501 HCFC1 c.449G>T p.G150V Substitution - Missense Large_intestine COSM5732880 TDRD6 c.2776G>T p.A926S Substitution - Missense Pancreas COSM5743319 SMARCA2 c.1877G>A p.G626D Substitution - Missense Small_intestine COSM5718892 HDAC4 c.704C>T p.A235V Substitution - Missense Skin COSM5724815 HDAC9 c.491C>T p.P164L Substitution - Missense Skin COSM5716284 DPF2 c.203C>T p.S68F Substitution - Missense Skin COSM5748960 ZMYM3 c.2206C>T p.R736C Substitution - Missense Pancreas COSM5731417 NIPBL c.1151A>G p.N384S Substitution - Missense Central_nervous_system COSM5599907 MBD5 c.2762C>T p.S921F Substitution - Missense Skin COSM5672664 CBX2 c.853G>T p.G285C Substitution - Missense Soft_tissue COSM5691534 PHF14 c.502A>T p.T168S Substitution - Missense Soft_tissue COSM5558757 SUV420H2 c.518T>A p.L173Q Substitution - Missense Prostate COSM5766987 BPTF c.6474C>T p.G2158G Substitution - coding silent Breast COSM5795964 L3MBTL3 c.17C>T p.S6F Substitution - Missense Breast COSM5952762 HDGFL1 c.195G>T p.K65N Substitution - Missense Oesophagus COSM6006341 ASXL1 c.1466G>A p.R489Q Substitution - Missense Skin COSM5982506 KDM6A c.3649T>C p.L1217L Substitution - coding silent Upper_aerodigestive_tract COSM5415905 TET2 c.? p.G1192R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5574291 ASXL1 c.? p.G646fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM132980 ASXL1 c.? p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5985622 ARID1A c.? p.R2158* Substitution - Nonsense Salivary_gland COSM53220 IDH1 c.? p.? Unknown Central_nervous_system COSM1716786 TET2 c.? p.Q635* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM52861 PBRM1 c.644delT p.V215fs*9 Deletion - Frameshift Kidney COSM4789576 CREBBP c.501C>T p.A167A Substitution - coding silent Liver COSM5028758 BRWD1 c.1826C>G p.P609R Substitution - Missense Breast COSM1124813 ZMYM3 c.1831G>C p.V611L Substitution - Missense Endometrium COSM4072244 SETBP1 c.2752C>T p.R918W Substitution - Missense Stomach COSM3384411 KMT2D c.11186C>A p.P3729H Substitution - Missense Pancreas COSM4163693 SMARCA2 c.1344C>G p.H448Q Substitution - Missense Thyroid COSM4805566 SMEK1 c.1144A>G p.T382A Substitution - Missense Liver COSM4506509 CHD7 c.7221C>T p.I2407I Substitution - coding silent Skin COSM1107179 EHMT1 c.2296G>A p.A766T Substitution - Missense Endometrium COSM3998056 SIRT1 c.994T>C p.L332L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM231055 PRDM9 c.1790C>G p.T597S Substitution - Missense Thyroid COSM3380609 DHX30 c.878A>G p.K293R Substitution - Missense Pancreas COSM5629842 MBD5 c.576A>G p.Q192Q Substitution - coding silent Oesophagus COSM1319435 KDM6A c.4006-1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM30571 SMARCA4 c.805delC p.M272fs*31 Deletion - Frameshift Large_intestine COSM1193243 CHD6 c.4603G>T p.A1535S Substitution - Missense Lung COSM375335 SETD7 c.640G>A p.E214K Substitution - Missense Lung COSM4473799 PHIP c.1874C>T p.S625F Substitution - Missense Skin COSM5896503 SUV39H1 c.469C>T p.P157S Substitution - Missense Skin COSM1665367 BAP1 c.155_158delGGAT p.W52fs*19 Deletion - Frameshift Kidney COSM460147 SMCHD1 c.1928C>T p.S643L Substitution - Missense Cervix COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Soft_tissue COSM4104446 L3MBTL2 c.1092C>T p.D364D Substitution - coding silent Stomach COSM3397304 BTAF1 c.3391G>A p.G1131S Substitution - Missense Central_nervous_system COSM3410494 CHD1 c.4882C>T p.H1628Y Substitution - Missense Central_nervous_system COSM3891262 L3MBTL4 c.609G>A p.R203R Substitution - coding silent Skin COSM4383719 MECOM c.1678C>T p.R560* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM754852 MORF4L2 c.311G>T p.R104L Substitution - Missense Lung COSM1176898 MPHOSPH8 c.1957C>A p.L653I Substitution - Missense Endometrium COSM1155827 ASXL1 c.2309_2310insC p.V771fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4389362 SMC1A c.2796C>G p.A932A Substitution - coding silent Pancreas COSM1078482 BRPF3 c.337C>A p.H113N Substitution - Missense Endometrium COSM5662984 FMR1 c.1419T>C p.S473S Substitution - coding silent Soft_tissue COSM5551701 DIDO1 c.5165A>G p.D1722G Substitution - Missense Prostate COSM4170389 KMT2D c.15404G>A p.R5135H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3818592 CDYL2 c.780C>G p.F260L Substitution - Missense Breast COSM3664530 ATAD2B_ENST00000238789 c.1591G>T p.A531S Substitution - Missense Breast COSM4032863 PRDM11 c.381G>A p.P127P Substitution - coding silent Stomach COSM4579703 KAT2A c.1681G>A p.G561S Substitution - Missense Bone COSM4753718 SETBP1 c.520C>T p.L174F Substitution - Missense Stomach COSM450151 BRD9 c.1394A>T p.Q465L Substitution - Missense Breast COSM3887205 PYGO1 c.1004C>T p.S335L Substitution - Missense Skin COSM88752 CREBBP c.4496T>C p.L1499P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3719172 PHF21B c.1256A>G p.Y419C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1680031 BPTF c.3096G>T p.E1032D Substitution - Missense Prostate COSM5982481 GATAD2B c.1581C>A p.R527R Substitution - coding silent Upper_aerodigestive_tract COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1638697 HELLS c.2249-10delT p.? Unknown Stomach COSM896429 GATAD2B c.1717C>T p.R573C Substitution - Missense Endometrium COSM935903 SIRT4 c.12C>T p.S4S Substitution - coding silent Endometrium COSM1134876 ARID1A c.3731C>A p.P1244H Substitution - Missense Kidney COSM4926930 ASXL1 c.1261A>G p.R421G Substitution - Missense Liver COSM985425 CHD3 c.359A>G p.K120R Substitution - Missense Endometrium COSM226632 CHD7 c.6529G>A p.E2177K Substitution - Missense Breast COSM6009365 MTF2 c.388C>T p.H130Y Substitution - Missense Skin COSM1108248 TAF1L c.1040T>C p.V347A Substitution - Missense Endometrium COSM1265352 SETD8 c.963C>A p.I321I Substitution - coding silent Stomach COSM5673924 TDRD5 c.386C>A p.P129H Substitution - Missense Soft_tissue COSM3455337 TDG c.625C>T p.R209C Substitution - Missense Skin COSM3782225 TAF1L c.1815G>A p.G605G Substitution - coding silent Pancreas COSM4395807 KDM2A c.1169C>T p.S390F Substitution - Missense Skin COSM3885864 PRMT5 c.1410C>T p.S470S Substitution - coding silent Skin COSM1447008 MLL5 c.1214G>A p.R405Q Substitution - Missense Large_intestine COSM323317 SHPRH c.817A>T p.I273F Substitution - Missense Lung COSM5061839 TDRD6 c.2209G>A p.V737I Substitution - Missense Stomach COSM1312983 STK31 c.1993G>C p.E665Q Substitution - Missense Urinary_tract COSM1080956 PHF3 c.2990T>A p.F997Y Substitution - Missense Stomach COSM4651323 BAHCC1 c.6300G>A p.A2100A Substitution - coding silent Large_intestine COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM371222 TRIM33 c.760C>G p.H254D Substitution - Missense Lung COSM4137506 PHF21B c.1068C>A p.A356A Substitution - coding silent Ovary COSM5451386 JMJD5 c.36G>T p.L12L Substitution - coding silent Large_intestine COSM252373 BAP1 c.316G>A p.V106M Substitution - Missense Small_intestine COSM1728575 SMARCC1 c.1198G>C p.V400L Substitution - Missense Liver COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM274976 EP400 c.8152C>A p.L2718I Substitution - Missense Large_intestine COSM486563 CHD7 c.4823G>A p.R1608K Substitution - Missense Kidney COSM4416140 TET2 c.652G>A p.V218M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4831498 CHD8 c.6457G>C p.E2153Q Substitution - Missense Cervix COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5396687 NCOA1 c.977C>T p.P326L Substitution - Missense Skin COSM5623886 SUV420H2 c.351G>A p.E117E Substitution - coding silent Oesophagus COSM4371948 BRD3 c.1225G>A p.E409K Substitution - Missense Oesophagus COSM3602817 WHSC1 c.863G>A p.G288E Substitution - Missense Skin COSM4985024 LMNA c.1338T>C p.D446D Substitution - coding silent Soft_tissue COSM5548503 KDM3B c.3686C>A p.A1229E Substitution - Missense Prostate COSM2078767 PHC2 c.481G>A p.A161T Substitution - Missense Large_intestine COSM2154557 PRDM9 c.710G>A p.R237H Substitution - Missense Oesophagus COSM5389222 DOT1L c.1100C>T p.P367L Substitution - Missense Skin COSM3821547 MBD1 c.1071C>T p.C357C Substitution - coding silent Breast COSM422778 PBRM1 c.1814C>T p.S605F Substitution - Missense Kidney COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4135374 SETD5_ENST00000402198 c.388+5G>A p.? Unknown Pancreas COSM1644697 KDM6A c.3419G>A p.G1140E Substitution - Missense Salivary_gland COSM255543 CHD7 c.5307delC p.D1770fs*26 Deletion - Frameshift Central_nervous_system COSM5441963 ZBTB38 c.3278G>A p.R1093H Substitution - Missense Oesophagus COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5557848 ATRX c.7076A>T p.K2359M Substitution - Missense Prostate COSM1615520 PHF20 c.742A>T p.S248C Substitution - Missense Liver COSM5773267 NCOA6 c.3775C>T p.P1259S Substitution - Missense Breast COSM278724 AICDA c.538C>A p.L180I Substitution - Missense Large_intestine COSM4985848 MSH6 c.2633T>C p.V878A Substitution - Missense Soft_tissue COSM3720644 SMYD1 c.274G>T p.A92S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM166528 DNMT3A c.2222C>T p.A741V Substitution - Missense Prostate COSM5623271 HDGFL1 c.548C>G p.A183G Substitution - Missense Oesophagus COSM3578908 SP140_ENST00000392045 c.1879G>A p.E627K Substitution - Missense Skin COSM5574494 CHD7 c.2119G>T p.A707S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM215940 WHSC1 c.3448A>G p.T1150A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3888288 GTF3C1 c.2668C>T p.P890S Substitution - Missense Skin COSM1099941 MYST3 c.2647G>T p.D883Y Substitution - Missense Endometrium COSM5574184 DNMT3A c.2120G>A p.G707D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5500430 TRRAP c.152A>G p.N51S Substitution - Missense Biliary_tract COSM3510041 BRD7 c.424C>T p.Q142* Substitution - Nonsense Skin COSM1319283 KDM3B c.2479delC p.Q827fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1247993 CDYL2 c.1506A>T p.K502N Substitution - Missense Oesophagus COSM3874620 CDYL c.924G>C p.V308V Substitution - coding silent Stomach COSM3751640 PWWP2B c.265C>T p.R89C Substitution - Missense Large_intestine COSM5742267 HDAC6 c.3207G>T p.Q1069H Substitution - Missense Small_intestine COSM5475105 TRRAP c.5983G>A p.V1995I Substitution - Missense Large_intestine COSM216212 SMC1A c.2369G>A p.R790Q Substitution - Missense Central_nervous_system COSM1125797 BRWD3 c.5215G>T p.G1739* Substitution - Nonsense Endometrium COSM1616546 PHF21B c.1515C>T p.A505A Substitution - coding silent Liver COSM4982838 TAF3 c.2167A>G p.R723G Substitution - Missense Oesophagus COSM5894643 SMARCD2 c.44-2C>T p.? Unknown Skin COSM934223 HCFC2 c.572A>G p.E191G Substitution - Missense Endometrium COSM51200 ASXL1 c.1888_1910del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM97137 PRDM1 c.183G>C p.E61fs Unknown Haematopoietic_and_lymphoid_tissue COSM4134435 ASXL1 c.3759T>C p.S1253S Substitution - coding silent Soft_tissue COSM3053502 SMEK2 c.393G>A p.L131L Substitution - coding silent Upper_aerodigestive_tract COSM96419 EP300 c.4195G>T p.D1399Y Substitution - Missense Oesophagus COSM5492147 SHPRH c.19C>T p.R7C Substitution - Missense Biliary_tract COSM1220356 PHF2 c.1498C>A p.P500T Substitution - Missense Large_intestine COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM376404 PHF17 c.1722G>A p.W574* Substitution - Nonsense Lung COSM4489181 SMARCA4 c.3440C>T p.S1147F Substitution - Missense Skin COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM29152 KDM6A c.3209+3delAAGTCATT p.? Unknown Kidney COSM1023502 KDM3A c.2656C>A p.R886R Substitution - coding silent Endometrium COSM437780 BAHCC1 c.4053C>T p.A1351A Substitution - coding silent Lung COSM5963888 SUV39H1 c.590G>C p.G197A Substitution - Missense Breast COSM3632394 ING3 c.10C>T p.L4L Substitution - coding silent Skin COSM244303 ERCC6 c.341A>G p.D114G Substitution - Missense Prostate COSM5752196 KMT2C c.761delG p.R254fs*7 Deletion - Frameshift Breast COSM87082 TET2 c.1118_1122delAAAAT p.Q373fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2270963 TET2 c.3852_3854delCTT p.F1285del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM3790879 JMJD1C c.6400G>A p.D2134N Substitution - Missense Urinary_tract COSM88775 CREBBP c.1573+2T>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3997461 ARID1A c.2106T>C p.S702S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3509894 GLYR1 c.846C>T p.I282I Substitution - coding silent Skin COSM5702529 BAP1 c.261_270del10 p.P88fs*7 Deletion - Frameshift Eye COSM5463309 PRDM5 c.76G>A p.A26T Substitution - Missense Large_intestine COSM1720118 PRDM2 c.721A>G p.T241A Substitution - Missense Skin COSM4663222 ARID1A c.2208C>A p.I736I Substitution - coding silent Large_intestine COSM1314134 CHD7 c.2960G>A p.R987Q Substitution - Missense Urinary_tract COSM5418301 KAT5 c.690+9G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM690890 KDM4D c.708G>C p.R236R Substitution - coding silent Lung COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4984491 ATAD2 c.2944G>C p.E982Q Substitution - Missense Oesophagus COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5645654 BPTF c.4525G>C p.E1509Q Substitution - Missense Oesophagus COSM5887986 KMT2C c.3434-8C>T p.? Unknown Upper_aerodigestive_tract COSM3458262 EP400 c.7221C>T p.L2407L Substitution - coding silent Skin COSM88025 SMARCA4 c.2729C>T p.T910M Substitution - Missense Stomach COSM4981174 CHD9 c.1152A>G p.S384S Substitution - coding silent Oesophagus COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3878700 JHDM1D c.2572T>C p.Y858H Substitution - Missense Stomach COSM4473081 KMT2D c.1826C>T p.S609F Substitution - Missense Skin COSM6017981 DIDO1 c.5212C>T p.P1738S Substitution - Missense Skin COSM3394632 KMT2C c.1076G>A p.C359Y Substitution - Missense Pancreas COSM1045447 SETD2 c.4037C>T p.S1346L Substitution - Missense Cervix COSM1611522 SMARCA4 c.513A>G p.P171P Substitution - coding silent Liver COSM1111302 PHF2 c.2193T>C p.D731D Substitution - coding silent Stomach COSM34090 IDH2 c.516G>T p.R172S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5631818 HDAC5 c.2217G>A p.E739E Substitution - coding silent Oesophagus COSM1441808 ARID1B c.1520G>A p.R507Q Substitution - Missense Large_intestine COSM1717662 KMT2D c.7964C>T p.A2655V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6013990 BTAF1 c.2713C>T p.L905F Substitution - Missense Skin COSM1639220 CHD4 c.3380G>A p.R1127Q Substitution - Missense Stomach COSM326328 RBBP4 c.1069G>A p.E357K Substitution - Missense Lung COSM4657196 SIRT2 c.725G>A p.R242H Substitution - Missense Large_intestine COSM4564411 CXXC1 c.1163_1164CC>TT p.S388F Substitution - Missense Skin COSM21486 HNF1A c.872delC p.P291fs*51 Deletion - Frameshift Endometrium COSM4031501 RBBP4 c.109A>G p.T37A Substitution - Missense Stomach COSM3760322 TET2 c.5284A>G p.I1762V Substitution - Missense Prostate COSM4587053 PHF14 c.2369T>C p.M790T Substitution - Missense Bone COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Bone COSM3391136 ATF2 c.1309A>G p.S437G Substitution - Missense Pancreas COSM4702504 KMT2C c.5388G>T p.Q1796H Substitution - Missense Large_intestine COSM5000692 ZMYM6 c.2900G>T p.S967I Substitution - Missense Pancreas COSM5692276 SCML2 c.1277C>T p.S426F Substitution - Missense Soft_tissue COSM41742 TET2 c.5152G>T p.V1718L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3855043 NIPBL c.5809-1G>T p.? Unknown Stomach COSM1200992 CHD6 c.4497T>G p.F1499L Substitution - Missense Large_intestine COSM236805 NCOR1 c.386T>G p.L129* Substitution - Nonsense Prostate COSM427969 TAF3 c.627_630delATTG p.L210fs*9 Deletion - Frameshift Breast COSM3422397 SMARCA4 c.4188G>A p.T1396T Substitution - coding silent Large_intestine COSM3419898 ARID4A c.232G>A p.A78T Substitution - Missense Liver COSM13871 ERCC6 c.3113G>C p.R1038T Substitution - Missense Breast COSM41997 TET2 c.2058A>T p.R686S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Central_nervous_system COSM5603723 GTF3C1 c.3081C>T p.V1027V Substitution - coding silent Skin COSM961534 MGA c.7453C>T p.R2485C Substitution - Missense Kidney COSM3068955 SETD2 c.3797C>A p.S1266Y Substitution - Missense Upper_aerodigestive_tract COSM4940316 ATXN7 c.1506G>T p.E502D Substitution - Missense Liver COSM6002479 RAI1 c.195G>A p.T65T Substitution - coding silent Prostate COSM48859 BAP1 c.1153C>T p.R385* Substitution - Nonsense Pancreas COSM4889429 PHC1 c.575C>A p.S192Y Substitution - Missense Upper_aerodigestive_tract COSM3998140 HELLS c.231A>C p.I77I Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4590784 ATF7IP c.2647C>A p.Q883K Substitution - Missense Upper_aerodigestive_tract COSM3659945 SMYD5 c.849G>A p.E283E Substitution - coding silent Large_intestine COSM4943694 KDM4A c.310G>A p.D104N Substitution - Missense Liver COSM1583113 DNMT3A c.2302_2302delG p.D768fs*11 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4060276 SETD1A c.2122G>A p.G708S Substitution - Missense Stomach COSM1250489 DNMT1 c.2415C>T p.L805L Substitution - coding silent Oesophagus COSM1030933 PRDM15 c.3826G>A p.V1276I Substitution - Missense Prostate COSM1567325 GABRG1 c.784delA p.I262fs*5 Deletion - Frameshift Large_intestine COSM1493548 IDH2 c.641C>T p.A214V Substitution - Missense Kidney COSM5651889 ASXL3 c.2624C>T p.P875L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3413844 PHF2 c.1267C>T p.P423S Substitution - Missense Central_nervous_system COSM255810 SMARCA1 c.1714C>T p.L572L Substitution - coding silent Central_nervous_system COSM4717890 PRMT6 c.240A>G p.P80P Substitution - coding silent Large_intestine COSM1751678 AIRE c.1147G>A p.E383K Substitution - Missense Urinary_tract COSM3734999 TET2 c.? p.N1118fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM4917581 PHF19 c.24A>G p.P8P Substitution - coding silent Liver COSM4399954 GATAD2B c.322A>T p.S108C Substitution - Missense Skin COSM985862 BAHCC1 c.7489C>T p.R2497W Substitution - Missense Endometrium COSM5967518 MSH6 c.? p.E224* Substitution - Nonsense Endometrium COSM1470120 PRMT6 c.513C>T p.L171L Substitution - coding silent Prostate COSM338198 NCOR1 c.5110A>G p.T1704A Substitution - Missense Lung COSM4805192 SMARCA2 c.3452A>G p.H1151R Substitution - Missense Liver COSM3013834 PRDM9 c.1656C>T p.Y552Y Substitution - coding silent Upper_aerodigestive_tract COSM1248000 CDYL2 c.236G>A p.R79H Substitution - Missense Stomach COSM3592026 KAT2B c.1038C>T p.F346F Substitution - coding silent Skin COSM1101452 EYA1 c.1033G>A p.A345T Substitution - Missense Endometrium COSM4568208 MORF4L1 c.1030T>C p.L344L Substitution - coding silent Skin COSM1035250 BRD1 c.1213G>A p.E405K Substitution - Missense Large_intestine COSM1099587 WHSC1L1 c.1221A>C p.K407N Substitution - Missense Endometrium COSM3069095 SETD2 c.1391A>C p.N464T Substitution - Missense Large_intestine COSM22654 MEN1 c.671_675delAAGGA p.K224fs*6 Deletion - Frameshift Parathyroid COSM3963975 BRWD1 c.817A>G p.I273V Substitution - Missense Lung COSM4934480 BAZ2A_ENST00000379441 c.3045-2A>G p.? Unknown Liver COSM1632233 DNMT3B c.1371A>C p.T457T Substitution - coding silent Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3619205 PRDM1 c.2015G>A p.G672E Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM96465 CREBBP c.3269T>A p.L1090* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM80475 RTF1 c.1053A>G p.E351E Substitution - coding silent Ovary COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM85910 IKZF1 c.1004_1005insC p.G337fs*152 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3479295 TDRD5 c.1257G>T p.K419N Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3878478 TIF1 c.194G>A p.S65N Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13399 MSH6 c.3246G>T p.P1082P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28777 KDM6A c.514C>T p.R172* Substitution - Nonsense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5906792 ACTB c.481C>A p.H161N Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5737489 KDM1B c.88G>A p.A30T Substitution - Missense Small_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1072942 NCOA7 c.2121T>C p.F707F Substitution - coding silent Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1723220 PHF12 c.2645_2646insC p.S883fs*25 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM740281 ARID1B c.4353T>C p.N1451N Substitution - coding silent Lung COSM754372 KDM4C c.1936G>T p.A646S Substitution - Missense Lung COSM4076478 LMNB2 c.1412A>G p.N471S Substitution - Missense Stomach COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM314414 PRDM9 c.1675C>A p.R559R Substitution - coding silent Soft_tissue COSM3890427 ZBTB4 c.1554G>A p.K518K Substitution - coding silent Skin COSM4767419 BAP1 c.489G>A p.R163R Substitution - coding silent Biliary_tract COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM4428434 ACTR5 c.1481C>T p.T494I Substitution - Missense Oesophagus COSM2206333 PRMT8 c.306C>T p.S102S Substitution - coding silent Skin COSM5740292 RTF1 c.1490C>T p.A497V Substitution - Missense Small_intestine COSM4504561 CHD6 c.6693C>T p.S2231S Substitution - coding silent Skin COSM5042632 ARID1A c.1433C>T p.P478L Substitution - Missense Liver COSM4118094 SMARCC1 c.2857C>T p.R953* Substitution - Nonsense Stomach COSM1318379 DNMT1 c.499A>T p.I167F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4019324 PRDM10 c.3194C>A p.P1065Q Substitution - Missense Stomach COSM742196 BRPF3 c.1588C>T p.Q530* Substitution - Nonsense Lung COSM1167991 ARID2 c.890C>T p.S297F Substitution - Missense Skin COSM451292 RING1 c.1004A>G p.E335G Substitution - Missense Upper_aerodigestive_tract COSM253079 PYGO1 c.50-4_50-3delTT p.? Unknown Large_intestine COSM4789106 ZCWPW1 c.448G>T p.A150S Substitution - Missense Liver COSM894186 TRIM33 c.1172G>T p.R391I Substitution - Missense Endometrium COSM5974038 ACTR5 c.1254G>A p.E418E Substitution - coding silent Upper_aerodigestive_tract COSM3989518 AP001011.3_ENST00000320876 c.2299C>T p.Q767* Substitution - Nonsense Kidney COSM1100779 CHD7 c.803C>T p.S268F Substitution - Missense Skin COSM3547333 EYA2 c.648C>T p.S216S Substitution - coding silent Skin COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM88756 CREBBP c.286C>T p.Q96* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM107494 TRRAP c.2165C>T p.S722F Substitution - Missense Upper_aerodigestive_tract COSM110807 BAP1 c.214_238del25 p.I72fs*7 Deletion - Frameshift Pleura COSM133672 IDH2 c.516G>C p.R172S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM143656 KAT6B c.2684_2685CC>TT p.S895F Substitution - Missense Skin COSM145776 PHF1 c.330T>A p.C110* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM144223 ATRX c.4276C>T p.R1426* Substitution - Nonsense Central_nervous_system COSM140600 KMT2C c.5960C>T p.S1987F Substitution - Missense Skin COSM219996 KAT6B c.6129C>T p.H2043H Substitution - coding silent Lung COSM201010 ING1 c.586C>T p.R196* Substitution - Nonsense Urinary_tract COSM200622 PRMT6 c.384C>A p.A128A Substitution - coding silent Pancreas COSM211767 ARID1A c.1010_1010delG p.A339fs*24 Deletion - Frameshift Endometrium COSM254833 MYST1 c.419G>A p.R140H Substitution - Missense Pancreas COSM263091 PRDM9 c.1365G>T p.E455D Substitution - Missense Soft_tissue COSM263823 SP140_ENST00000392045 c.897C>A p.T299T Substitution - coding silent Large_intestine COSM257902 RNF17 c.1216G>T p.E406* Substitution - Nonsense Large_intestine COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Large_intestine COSM355800 SIRT6 c.243G>T p.K81N Substitution - Missense Lung COSM351347 ARID1B c.6505C>T p.L2169L Substitution - coding silent Lung COSM366544 BRD8 c.3203A>T p.E1068V Substitution - Missense Lung COSM367786 BRWD3 c.524G>T p.R175I Substitution - Missense Endometrium COSM454811 PRDM14 c.600G>A p.E200E Substitution - coding silent Breast COSM988841 MBD1 c.181C>A p.L61I Substitution - Missense Endometrium COSM693704 KMT2D c.11810A>G p.K3937R Substitution - Missense Lung COSM941782 BAZ2A c.1765C>T p.R589C Substitution - Missense Endometrium COSM1021313 MSH6 c.3896G>A p.G1299D Substitution - Missense Endometrium COSM921713 HELLS c.340A>C p.N114H Substitution - Missense Endometrium COSM931225 SUV420H1 c.24G>T p.K8N Substitution - Missense Endometrium COSM896947 ASH1L c.471C>T p.C157C Substitution - coding silent Endometrium COSM1034540 EP300 c.3355G>A p.D1119N Substitution - Missense Endometrium COSM1109525 UHRF2 c.368G>A p.G123D Substitution - Missense Endometrium COSM1123024 SMC1A c.3556G>A p.V1186I Substitution - Missense Endometrium COSM1131337 SETD5_ENST00000402198 c.598G>A p.E200K Substitution - Missense Urinary_tract COSM1137081 SFMBT1 c.1105_1106GC>AG p.A369S Substitution - Missense Kidney COSM1238501 CHD7 c.2619G>A p.E873E Substitution - coding silent Oesophagus COSM1184755 BMI1 c.187A>G p.T63A Substitution - Missense Large_intestine COSM1205881 EYA3 c.1252C>T p.R418C Substitution - Missense Large_intestine COSM1184403 BAHD1 c.2104G>A p.A702T Substitution - Missense Large_intestine COSM1259129 NIPBL c.3007G>C p.V1003L Substitution - Missense Oesophagus COSM1221898 PRDM8 c.542G>T p.R181I Substitution - Missense Large_intestine COSM1189617 BAHCC1 c.5258C>T p.A1753V Substitution - Missense Lung COSM1603739 KAT6B c.505G>A p.G169R Substitution - Missense Liver COSM1375536 CHD2 c.515delA p.V175fs*1 Deletion - Frameshift Stomach COSM1382258 SUZ12 c.1950G>T p.K650N Substitution - Missense Large_intestine COSM1383305 KAT2A c.1598G>A p.R533H Substitution - Missense Large_intestine COSM1440967 SHPRH c.2382C>T p.R794R Substitution - coding silent Large_intestine COSM1366030 RNF17 c.1012G>A p.D338N Substitution - Missense Skin COSM1364342 APOBEC1 c.207delA p.K69fs*12 Deletion - Frameshift Large_intestine COSM1534641 PRDM15 c.898G>C p.E300Q Substitution - Missense Breast COSM1569346 EHMT1 c.2992G>A p.V998M Substitution - Missense Large_intestine COSM1476837 CHD4 c.2630G>A p.R877Q Substitution - Missense Endometrium COSM1616123 AIRE c.1194G>A p.P398P Substitution - coding silent Liver COSM1614600 HDAC4 c.1144C>A p.Q382K Substitution - Missense Liver COSM1583424 SETDB1 c.3609C>T p.G1203G Substitution - coding silent Endometrium COSM1620269 NIPBL c.3929C>T p.A1310V Substitution - Missense Liver COSM1626105 TAF1 c.3224+8G>A p.? Unknown Liver COSM1622168 MLL5 c.3964_3965insT p.M1322fs*5 Insertion - Frameshift Liver COSM1628606 ARID2 c.1120G>C p.G374R Substitution - Missense Liver COSM1645717 CHD4 c.2911G>C p.E971Q Substitution - Missense Kidney COSM1689315 TDRD5 c.1834C>T p.Q612* Substitution - Nonsense Skin COSM1672466 TDRD6 c.1307G>C p.G436A Substitution - Missense Kidney COSM1676889 ARID2 c.1006G>T p.G336* Substitution - Nonsense Large_intestine COSM1676889 ARID2 c.1006G>T p.G336* Substitution - Nonsense Large_intestine COSM1674944 WDR5 c.778T>C p.Y260H Substitution - Missense Large_intestine COSM1716661 ATRX c.2390delC p.S797fs*1 Deletion - Frameshift Central_nervous_system COSM1756309 TDRD7 c.2169C>A p.I723I Substitution - coding silent Urinary_tract COSM1747357 MPHOSPH8 c.1590G>A p.Q530Q Substitution - coding silent Urinary_tract COSM2149199 BAHD1 c.953T>C p.M318T Substitution - Missense Central_nervous_system COSM2235552 ARID1A c.5839C>T p.Q1947* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM2874668 NCOA2 c.249C>T p.I83I Substitution - coding silent Large_intestine COSM2911748 DNMT3A c.2264T>C p.F755S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2965459 KDM6A c.3669C>T p.G1223G Substitution - coding silent Large_intestine COSM3214136 BRD3 c.516G>A p.A172A Substitution - coding silent Large_intestine COSM3236630 HCFC1 c.83C>T p.T28M Substitution - Missense Stomach COSM3253990 MLL5 c.4707T>C p.Y1569Y Substitution - coding silent Large_intestine COSM3362548 CXXC1 c.1283A>T p.K428M Substitution - Missense Kidney COSM3369320 ASH1L c.298C>T p.P100S Substitution - Missense Thyroid COSM3443987 KMT2A c.7049C>T p.S2350F Substitution - Missense Skin COSM3440609 KAT6B c.2157C>T p.Y719Y Substitution - coding silent Skin COSM3431395 SMARCD3 c.604G>T p.D202Y Substitution - Missense Large_intestine COSM3611757 HDAC3 c.189C>T p.S63S Substitution - coding silent Skin COSM3619173 PRDM1 c.558A>T p.T186T Substitution - coding silent Skin COSM3615203 PRDM9 c.893G>A p.G298E Substitution - Missense Skin COSM3547341 EYA2 c.1201T>C p.L401L Substitution - coding silent Skin COSM3554893 EP300 c.5630C>T p.P1877L Substitution - Missense Skin COSM3526244 CXXC1 c.82T>C p.Y28H Substitution - Missense Skin COSM3663430 TRRAP c.7004C>A p.S2335Y Substitution - Missense Liver COSM3715319 EYA4 c.1765A>G p.M589V Substitution - Missense Upper_aerodigestive_tract COSM3763348 MYST3 c.2982G>A p.P994P Substitution - coding silent Soft_tissue COSM3806485 TDRD1 c.2342G>A p.R781H Substitution - Missense Breast COSM3829473 JARID2 c.2718C>T p.L906L Substitution - coding silent Stomach COSM3847520 PHF19 c.782T>G p.V261G Substitution - Missense Breast COSM3888413 SRCAP c.5944C>T p.P1982S Substitution - Missense Skin COSM3963190 KDM3A c.1263G>C p.K421N Substitution - Missense Lung COSM3975684 PRDM13 c.1751G>A p.R584H Substitution - Missense Central_nervous_system COSM4016606 BTAF1 c.4110G>T p.Q1370H Substitution - Missense Stomach COSM4032632 RAG2 c.153G>A p.K51K Substitution - coding silent Stomach COSM4012792 PWWP2B c.815G>A p.R272H Substitution - Missense Stomach COSM4031570 PRDM16 c.3366C>T p.D1122D Substitution - coding silent Stomach COSM4041977 ARID2 c.161T>C p.V54A Substitution - Missense Stomach COSM4080326 KDM4B c.696G>A p.S232S Substitution - coding silent Stomach COSM4082476 TRIM28 c.1030C>T p.H344Y Substitution - Missense Stomach COSM4115161 PHC3 c.131G>A p.R44Q Substitution - Missense Stomach COSM4162014 KMT2C c.2534G>A p.G845E Substitution - Missense Upper_aerodigestive_tract COSM4168152 CBX3 c.85G>T p.E29* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4263943 RAI1 c.840G>C p.Q280H Substitution - Missense Oesophagus COSM4385590 TET2 c.2965_2966insAAGC p.P989fs*21 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4383904 TET2 c.3514G>A p.G1172S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4383958 TET2 c.4816delG p.G1606fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4409850 SFMBT2 c.1250T>C p.V417A Substitution - Missense Oesophagus COSM4599434 BAZ1A c.1459G>A p.E487K Substitution - Missense Upper_aerodigestive_tract COSM4544160 SMCHD1 c.1852G>A p.E618K Substitution - Missense Skin COSM4515111 ACTA1 c.999C>T p.A333A Substitution - coding silent Skin COSM4590278 KDM2A c.310A>G p.S104G Substitution - Missense Upper_aerodigestive_tract COSM4448827 AP001011.3_ENST00000320876 c.1343-1G>A p.? Unknown Skin COSM4472547 SMARCC2 c.178C>T p.Q60* Substitution - Nonsense Skin COSM4482959 KDM2B c.1575C>T p.L525L Substitution - coding silent Skin COSM4681088 EP300 c.1751T>C p.V584A Substitution - Missense Large_intestine COSM4731987 TAF1L c.1912C>T p.P638S Substitution - Missense Large_intestine COSM4666261 BRWD3 c.4718G>T p.R1573I Substitution - Missense Large_intestine COSM4674144 BMI1 c.411C>A p.F137L Substitution - Missense Large_intestine COSM4725158 SETD2 c.2952G>T p.K984N Substitution - Missense Large_intestine COSM4701400 MECP2 c.1324A>G p.T442A Substitution - Missense Stomach COSM4669584 CBX7 c.38T>C p.V13A Substitution - Missense Large_intestine COSM4609530 KDM6A c.3023C>A p.A1008E Substitution - Missense Adrenal_gland COSM4654505 UHRF2 c.952T>A p.F318I Substitution - Missense Large_intestine COSM4611938 DIDO1 c.1715delC p.S572fs*67 Deletion - Frameshift Large_intestine COSM4648737 ATXN7 c.1523A>G p.D508G Substitution - Missense Large_intestine COSM4754233 ZMYND8 c.3469G>T p.D1157Y Substitution - Missense Stomach COSM4787724 BAZ2A c.3089A>G p.K1030R Substitution - Missense Liver COSM4881398 EHMT2 c.2474C>A p.A825D Substitution - Missense Upper_aerodigestive_tract COSM4930194 CDYL c.679C>A p.Q227K Substitution - Missense Liver COSM4913602 SMARCA4 c.2018A>G p.Q673R Substitution - Missense Liver COSM4827114 DOT1L c.3812C>T p.S1271F Substitution - Missense Cervix COSM4970125 SMARCA4 c.3637_3639delAAG p.K1213delK Deletion - In frame Central_nervous_system COSM5060293 WHSC1 c.2405G>C p.G802A Substitution - Missense Stomach COSM5347622 BAP1 c.123-5_127delCCCAGCCCTG p.? Unknown Liver COSM5375275 KMT2D c.11893C>T p.Q3965* Substitution - Nonsense Skin COSM5383886 MORF4L1 c.446C>T p.T149M Substitution - Missense Skin COSM5504069 SMEK1 c.1138G>A p.A380T Substitution - Missense Biliary_tract COSM5492090 TDRD6 c.1149C>T p.D383D Substitution - coding silent Biliary_tract COSM5759123 EYA2 c.1060G>C p.G354R Substitution - Missense Bone COSM5761132 NIPBL c.4001_4002delAA p.R1335fs*6 Deletion - Frameshift Pancreas COSM5757549 SMC1A c.615+1G>A p.? Unknown Large_intestine COSM5730689 YEATS4 c.521A>C p.E174A Substitution - Missense Breast COSM5735667 LMNA c.1550A>G p.Q517R Substitution - Missense Small_intestine COSM5748960 ZMYM3 c.2206C>T p.R736C Substitution - Missense Pancreas COSM5608142 CREBBP c.1899T>C p.A633A Substitution - coding silent Skin COSM5688101 EHMT2 c.3580C>A p.P1194T Substitution - Missense Soft_tissue COSM5664309 TAF1L c.764C>A p.P255H Substitution - Missense Soft_tissue COSM5752676 NCOR1 c.3283G>T p.E1095* Substitution - Nonsense Breast COSM5762828 ASXL1 c.2047_2048insC p.G685fs*33 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5801590 MLL5 c.4740_4741delTG p.F1582fs*>277 Deletion - Frameshift Breast COSM5812822 BPTF c.3347A>T p.Q1116L Substitution - Missense Liver COSM5940006 BTAF1 c.5432C>T p.T1811I Substitution - Missense Skin COSM5904982 BAZ2A c.3319C>T p.R1107* Substitution - Nonsense Skin COSM5916618 RAI1 c.3877C>T p.P1293S Substitution - Missense Skin COSM5945908 KMT2C c.13595T>C p.V4532A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5947406 ARID1A c.3678T>G p.Y1226* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5960213 TRDMT1 c.549G>T p.L183L Substitution - coding silent Thyroid COSM5964767 BRPF1 c.352G>T p.V118L Substitution - Missense Breast COSM6000242 KMT2D c.2542G>T p.D848Y Substitution - Missense Prostate COSM6006608 TDRKH c.1097C>A p.T366K Substitution - Missense Prostate COSM6006312 TBL1XR1 c.1092_1093insT p.A365fs*5 Insertion - Frameshift Small_intestine COSM6004501 CHD6 c.4792T>C p.C1598R Substitution - Missense Prostate COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM42081 TET2 c.3487_3487delA p.I1163fs*63 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5031021 KDM6A c.? p.? Unknown Large_intestine COSM132969 ASXL1 c.? p.L823* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1716177 EZH2 c.? p.Y646H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM757662 ZMYM3 c.3057G>T p.L1019L Substitution - coding silent Lung COSM5570064 PHF21B c.1499C>T p.T500M Substitution - Missense Prostate COSM1667290 ARID1A c.4388G>A p.R1463H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5032223 SETBP1 c.? p.N280S Substitution - Missense Lung COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM1040971 MECOM c.613C>G p.R205G Substitution - Missense Endometrium COSM936111 SETD1B c.2319_2320insA p.Q775fs*4 Insertion - Frameshift Endometrium COSM1326738 CHD6 c.5581C>T p.Q1861* Substitution - Nonsense Ovary COSM480409 PBRM1 c.1441C>T p.Q481* Substitution - Nonsense Kidney COSM5043184 UBR7 c.853G>T p.G285C Substitution - Missense Liver COSM3457030 SIRT4 c.69G>A p.P23P Substitution - coding silent Bone COSM3420106 UBR7 c.608A>G p.K203R Substitution - Missense Large_intestine COSM1178926 ZMYM3 c.143_144insC p.G49fs*13 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4825779 SP100 c.2470A>G p.K824E Substitution - Missense Cervix COSM5897923 CREBBP c.4118C>T p.P1373L Substitution - Missense Skin COSM3664049 PHF19 c.196T>G p.S66A Substitution - Missense Liver COSM5894632 BPTF c.7508G>T p.R2503M Substitution - Missense Skin COSM1483332 KDM3A c.3685C>G p.Q1229E Substitution - Missense Breast COSM5477696 PHRF1 c.340G>A p.A114T Substitution - Missense Large_intestine COSM133054 EZH2 c.484+13C>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM707757 KDM6B c.686G>A p.R229Q Substitution - Missense Lung COSM4104429 EP300 c.1109G>A p.R370H Substitution - Missense Stomach COSM4986460 BRPF3 c.398T>G p.L133R Substitution - Missense Soft_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM267293 PYGO2 c.448_449insC p.Q150fs*27 Insertion - Frameshift Large_intestine COSM1178185 L3MBTL2 c.1357-1G>A p.? Unknown Prostate COSM1292540 BAZ1B c.2014G>A p.G672S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4797776 BRPF3 c.1003G>A p.A335T Substitution - Missense Liver COSM5029463 PRDM9 c.2306C>G p.T769R Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5953323 ARID2 c.487C>T p.L163F Substitution - Missense Oesophagus COSM5790581 LBR c.986T>G p.F329C Substitution - Missense Breast COSM4154983 PHF8 c.660G>A p.W220* Substitution - Nonsense Kidney COSM5387101 BPTF c.643C>T p.R215C Substitution - Missense Skin COSM1017606 SP140_ENST00000392045 c.1830C>A p.I610I Substitution - coding silent Endometrium COSM1717901 ASXL1 c.1937_1938insG p.G649fs*9 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4671966 CHD2 c.1862G>A p.R621Q Substitution - Missense Large_intestine COSM5404708 ARID1B c.3934C>T p.P1312S Substitution - Missense Skin COSM3854564 PRDM9 c.429T>A p.S143R Substitution - Missense Stomach COSM1194497 EP400 c.7151A>G p.Q2384R Substitution - Missense Lung COSM41294 IDH1 c.? p.R132C Substitution - Missense Soft_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM97175 PRDM1 c.1335_1336insA p.E446fs*30 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1732110 PBRM1 c.1060G>T p.E354* Substitution - Nonsense Kidney COSM5059921 ATXN7 c.280T>C p.S94P Substitution - Missense Stomach COSM3955472 RNF17 c.1310A>G p.Q437R Substitution - Missense Lung COSM5188513 SP140_ENST00000392045 c.1416G>A p.T472T Substitution - coding silent Large_intestine COSM426844 MTF2 c.1017G>A p.K339K Substitution - coding silent Breast COSM160792 EP400 c.3869G>C p.C1290S Substitution - Missense Breast COSM3973890 ATRX c.6281C>G p.S2094* Substitution - Nonsense Central_nervous_system COSM1190308 DIDO1 c.1136A>T p.K379M Substitution - Missense Lung COSM1682090 PRMT2 c.301G>T p.E101* Substitution - Nonsense Large_intestine COSM4571594 TDRD6 c.4987T>C p.L1663L Substitution - coding silent Skin COSM133720 DNMT3A c.2113A>T p.I705F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4591233 NCOR1 c.534G>C p.K178N Substitution - Missense Upper_aerodigestive_tract COSM5376384 ING1 c.745G>A p.G249S Substitution - Missense Skin COSM3190619 HDAC5 c.1465C>T p.R489W Substitution - Missense Large_intestine COSM150428 KMT2C c.2958A>G p.P986P Substitution - coding silent Soft_tissue COSM5399767 PBRM1 c.436C>T p.R146* Substitution - Nonsense Skin COSM87001 DNMT3A c.2644C>A p.R882S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4681132 EP400 c.6853G>A p.A2285T Substitution - Missense Large_intestine COSM2006966 KMT2D c.8620G>A p.A2874T Substitution - Missense Large_intestine COSM4140082 SETBP1 c.367T>C p.Y123H Substitution - Missense Ovary COSM279871 CHD3 c.470A>C p.H157P Substitution - Missense Large_intestine COSM4934944 CHD6 c.5978A>T p.H1993L Substitution - Missense Liver COSM5096809 TRIM66 c.2891_2892insC p.A965fs*6 Insertion - Frameshift Pancreas COSM328155 PRMT10 c.954-4C>A p.? Unknown Pancreas COSM5589843 BRPF1 c.931C>T p.P311S Substitution - Missense Skin COSM3363364 DIDO1 c.2163C>T p.Y721Y Substitution - coding silent Kidney COSM2819123 PRDM15 c.2035C>T p.R679W Substitution - Missense Large_intestine COSM4519975 SMYD3 c.859G>A p.E287K Substitution - Missense Skin COSM1696123 LMNB1 c.1672G>A p.E558K Substitution - Missense Skin COSM5615446 PHF15 c.7G>T p.E3* Substitution - Nonsense Lung COSM5438383 VPS72 c.516G>T p.L172L Substitution - coding silent Oesophagus COSM4976363 BAP1 c.1730-1G>A p.? Unknown Upper_aerodigestive_tract COSM218651 BRWD1 c.924A>C p.L308F Substitution - Missense Pancreas COSM1725258 SETDB2 c.989A>C p.K330T Substitution - Missense Liver COSM3747848 RERE c.2951A>C p.H984P Substitution - Missense Central_nervous_system COSM144213 ATRX c.5269G>T p.E1757* Substitution - Nonsense Bone COSM1124803 ZMYM3 c.3154T>G p.S1052A Substitution - Missense Endometrium COSM3720632 DNMT3A c.1667+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1388315 AP001011.3_ENST00000320876 c.3010delA p.D1006fs*39 Deletion - Frameshift Large_intestine COSM685314 KAT6B c.2008A>G p.I670V Substitution - Missense Lung COSM225314 SUV420H1 c.271C>T p.P91S Substitution - Missense Skin COSM4005163 ZMYM3 c.1976G>T p.G659V Substitution - Missense Urinary_tract COSM990752 SMARCA4 c.3046G>A p.V1016M Substitution - Missense Endometrium COSM5507609 PRDM1 c.2013A>T p.K671N Substitution - Missense Biliary_tract COSM5374667 EP400 c.2423T>C p.V808A Substitution - Missense Skin COSM4449026 SIRT2 c.16+1G>C p.? Unknown Skin COSM4994271 L3MBTL3 c.381C>T p.G127G Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1216852 NCOA2 c.1012C>T p.R338C Substitution - Missense Large_intestine COSM1243644 STK31 c.2550A>G p.I850M Substitution - Missense Oesophagus COSM4138412 RUVBL1 c.263G>A p.G88D Substitution - Missense Ovary COSM4409072 SMARCC1 c.3043+4A>T p.? Unknown Oesophagus COSM5918991 KDM1B c.1689+3A>T p.? Unknown Skin COSM288125 DNMT1 c.4591G>C p.E1531Q Substitution - Missense Large_intestine COSM913370 MTF2 c.1552G>T p.D518Y Substitution - Missense Endometrium COSM919614 SIRT1 c.1399G>T p.E467* Substitution - Nonsense Endometrium COSM2131010 SUV39H2 c.197A>G p.Y66C Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM26906 SMARCB1 c.725G>A p.R242K Substitution - Missense Skin COSM5733535 ARID2 c.989T>G p.L330* Substitution - Nonsense Pancreas COSM1025799 DNMT3B c.1253-1G>T p.? Unknown Endometrium COSM4437654 TDRKH c.682C>A p.P228T Substitution - Missense Oesophagus COSM3636997 HDAC9 c.738C>T p.L246L Substitution - coding silent Skin COSM4623851 MBD3 c.312G>A p.T104T Substitution - coding silent Large_intestine COSM3719753 DNMT3A c.2597+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1266265 SMCHD1 c.3710+5_3710+6insA p.? Unknown Stomach COSM4170116 TET2 c.4677delT p.Y1560fs*11 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM219229 ATAD2 c.3196G>T p.D1066Y Substitution - Missense Breast COSM2078770 PHC2 c.386C>T p.A129V Substitution - Missense Stomach COSM3578907 SP140_ENST00000392045 c.1812G>A p.K604K Substitution - coding silent Skin COSM1757176 MLL5 c.3881A>T p.H1294L Substitution - Missense Urinary_tract COSM5360089 ZMYND11 c.1059A>C p.P353P Substitution - coding silent Large_intestine COSM162843 NCOA7 c.997C>A p.R333R Substitution - coding silent Breast COSM245200 KDM6A c.3470T>A p.I1157K Substitution - Missense Prostate COSM4725330 SFMBT2 c.472C>A p.L158I Substitution - Missense Large_intestine COSM254547 ARID1A c.4750C>T p.Q1584* Substitution - Nonsense Urinary_tract COSM3838444 IDH1 c.1013G>C p.R338T Substitution - Missense Breast COSM930216 MEN1 c.1206C>T p.S402S Substitution - coding silent Endometrium COSM1341887 PRDM16 c.2334G>A p.K778K Substitution - coding silent Large_intestine COSM1682287 EP300 c.4066C>T p.R1356* Substitution - Nonsense Central_nervous_system COSM3153139 EP300 c.3602G>A p.C1201Y Substitution - Missense Upper_aerodigestive_tract COSM487269 EHMT1 c.1908C>T p.A636A Substitution - coding silent Kidney COSM5880240 TAF1L c.4016G>A p.G1339E Substitution - Missense Skin COSM4536209 SFMBT2 c.2277G>A p.R759R Substitution - coding silent Skin COSM5414355 BAZ2A_ENST00000379441 c.97C>T p.L33F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4806245 SUZ12 c.1824A>G p.E608E Substitution - coding silent Liver COSM4914646 PHF20 c.37T>C p.F13L Substitution - Missense Liver COSM1627816 KMT2A c.6070+3A>G p.? Unknown Liver COSM457076 HCFC1 c.5568C>T p.C1856C Substitution - coding silent Large_intestine COSM3390545 RBBP7 c.878C>T p.A293V Substitution - Missense Pancreas COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3620798 EYA4 c.781A>C p.T261P Substitution - Missense Skin COSM1567767 NSD1 c.5432G>A p.R1811Q Substitution - Missense Large_intestine COSM4979259 MECOM c.1315C>A p.Q439K Substitution - Missense Oesophagus COSM4654575 BRWD3 c.223A>G p.I75V Substitution - Missense Large_intestine COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4054370 BAHD1 c.1837C>T p.R613* Substitution - Nonsense Stomach COSM1757270 KDM6A c.1125C>T p.Y375Y Substitution - coding silent Urinary_tract COSM6009013 ASXL1 c.? p.R404? Unknown Haematopoietic_and_lymphoid_tissue COSM1155718 ASXL1 c.3319C>T p.L1107F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1013016 TET2 c.5087A>G p.Y1696C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3508211 GTF3C1 c.4754G>A p.R1585K Substitution - Missense Skin COSM3740370 SMARCB1 c.119G>A p.R40Q Substitution - Missense Liver COSM5878994 TET2 c.2839_2840insA p.H949fs*23 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1462677 UHRF2 c.1879C>T p.R627W Substitution - Missense Large_intestine COSM4979196 SRCAP c.9356C>T p.S3119L Substitution - Missense Oesophagus COSM3567476 EPC2 c.2261C>T p.S754L Substitution - Missense Skin COSM2995153 CTCF c.1408C>T p.R470C Substitution - Missense Large_intestine COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5775643 DIDO1 c.399G>A p.K133K Substitution - coding silent Breast COSM5025860 SP140_ENST00000392045 c.2484G>C p.Q828H Substitution - Missense Breast COSM5010174 TAF1 c.1306T>A p.W436R Substitution - Missense Large_intestine COSM1349790 BTAF1 c.22C>T p.R8C Substitution - Missense Large_intestine COSM448518 LMNB1 c.786G>C p.E262D Substitution - Missense Breast COSM4498343 EP400 c.5185C>T p.P1729S Substitution - Missense Skin COSM5475920 RAI1 c.5006C>T p.T1669M Substitution - Missense Large_intestine COSM5445613 KIAA1045 c.674G>A p.R225H Substitution - Missense Oesophagus COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM42016 TET2 c.4393C>T p.R1465* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1030681 BRWD1 c.5526G>A p.M1842I Substitution - Missense Endometrium COSM3398268 HCFC2 c.405T>C p.Y135Y Substitution - coding silent Central_nervous_system COSM2270982 ASXL1 c.1249C>T p.R417* Substitution - Nonsense Soft_tissue COSM1185913 SMEK2 c.2179A>T p.T727S Substitution - Missense Lung COSM5770457 SIRT7 c.625G>A p.D209N Substitution - Missense Breast COSM281396 GLYATL1 c.375C>A p.I125I Substitution - coding silent Large_intestine COSM5425730 SMYD3 c.326C>T p.A109V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4805736 PRDM5 c.643C>A p.Q215K Substitution - Missense Liver COSM3841021 CHD6 c.1831C>T p.L611L Substitution - coding silent Breast COSM1307609 DIDO1 c.4330C>T p.L1444L Substitution - coding silent Urinary_tract COSM1693770 MECOM c.2386G>A p.D796N Substitution - Missense Skin COSM1332878 TRIM33 c.1035G>A p.Q345Q Substitution - coding silent Large_intestine COSM5697454 KMT2D c.10141C>T p.Q3381* Substitution - Nonsense Soft_tissue COSM4775375 EHMT2 c.2647G>C p.E883Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1448987 EZH2 c.1741G>A p.A581T Substitution - Missense Large_intestine COSM1246261 BRWD1 c.486C>T p.S162S Substitution - coding silent Stomach COSM1478719 GTF3C1 c.4424G>T p.S1475I Substitution - Missense Breast COSM5045141 JARID2 c.2914G>A p.G972S Substitution - Missense Oesophagus COSM5387629 BAHCC1 c.2295G>A p.L765L Substitution - coding silent Skin COSM4538142 CHD1 c.2506G>A p.G836R Substitution - Missense Skin COSM2874563 NCOA2 c.4104C>T p.S1368S Substitution - coding silent Skin COSM674888 PRDM2 c.2020A>G p.T674A Substitution - Missense Lung COSM1179669 KMT2C c.943G>A p.G315S Substitution - Missense Biliary_tract COSM5635290 KDM6A c.3946delG p.E1316fs*40 Deletion - Frameshift Oesophagus COSM5701329 AP001011.3_ENST00000320876 c.5499_5500insCACC p.T1834fs*7 Insertion - Frameshift Soft_tissue COSM23068 MEN1 c.? p.W126* Substitution - Nonsense Parathyroid COSM1176468 MYST3 c.4654G>T p.D1552Y Substitution - Missense Endometrium COSM1677490 EP400 c.4864C>A p.L1622I Substitution - Missense Large_intestine COSM4384314 KMT2C c.10208G>A p.R3403H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3835335 UHRF1 c.1526C>G p.S509C Substitution - Missense Breast COSM729160 PHC3 c.2275A>G p.M759V Substitution - Missense Lung COSM4705970 NCOA6 c.4692G>T p.L1564F Substitution - Missense Large_intestine COSM5159319 PHF16 c.973-10C>A p.? Unknown Large_intestine COSM13857 CHD6 c.5860G>A p.E1954K Substitution - Missense Lung COSM4415660 POGZ c.1524-10T>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1290507 SRCAP c.7193G>A p.R2398H Substitution - Missense Cervix COSM431133 ARID2 c.5199T>G p.I1733M Substitution - Missense Breast COSM292120 ZMYND8 c.1387G>T p.G463C Substitution - Missense Large_intestine COSM1051638 SMARCA5 c.3076C>T p.R1026* Substitution - Nonsense Endometrium COSM1621134 ARID1B c.3277G>A p.G1093R Substitution - Missense Liver COSM24920 HNF1A c.814C>A p.R272S Substitution - Missense Liver COSM2773716 KIAA1045 c.1036G>A p.D346N Substitution - Missense Large_intestine COSM1688677 TDRD10 c.332G>A p.R111K Substitution - Missense Skin COSM1221877 PRDM14 c.1553A>C p.K518T Substitution - Missense Large_intestine COSM5734875 KDM5C c.3940C>T p.R1314W Substitution - Missense Pancreas COSM5348731 ARID2 c.2892_2893insACA p.G964_Q965insT Insertion - In frame Liver COSM4702442 KMT2D c.2751A>G p.A917A Substitution - coding silent Large_intestine COSM4749546 TAF3 c.1372T>G p.S458A Substitution - Missense Stomach COSM28786 KDM6A c.997C>T p.Q333* Substitution - Nonsense Skin COSM1680361 MBD1 c.1075A>G p.K359E Substitution - Missense Large_intestine COSM3515531 PHF12 c.1543C>T p.P515S Substitution - Missense Skin COSM1663466 PHC2 c.1940G>A p.R647Q Substitution - Missense Kidney COSM4795960 TAF1L c.5098C>T p.P1700S Substitution - Missense Liver COSM907717 ARID1A c.3916C>T p.Q1306* Substitution - Nonsense Endometrium COSM166417 ASXL1 c.? p.P1277fs*2 Frameshift Haematopoietic_and_lymphoid_tissue COSM4591023 KMT2C c.871C>T p.L291F Substitution - Missense Upper_aerodigestive_tract COSM4044361 CHD4 c.324C>T p.S108S Substitution - coding silent Stomach COSM1426601 PRDM5 c.1525C>T p.R509W Substitution - Missense Prostate COSM37029 EZH2 c.1937A>C p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4591023 KMT2C c.871C>T p.L291F Substitution - Missense Upper_aerodigestive_tract COSM4830311 KMT2D c.12619G>A p.G4207R Substitution - Missense Cervix COSM3867724 SFMBT2 c.1287C>T p.S429S Substitution - coding silent Stomach COSM4590050 PRDM10 c.1332A>C p.E444D Substitution - Missense Upper_aerodigestive_tract COSM1743913 NIPBL c.7174T>C p.C2392R Substitution - Missense Biliary_tract COSM1184853 BPTF c.4095G>T p.K1365N Substitution - Missense Large_intestine COSM941724 BAZ2A_ENST00000379441 c.5221C>T p.R1741C Substitution - Missense Endometrium COSM5064532 HCFC1 c.2248C>T p.R750C Substitution - Missense Skin COSM3808981 PRMT3 c.394C>T p.Q132* Substitution - Nonsense Breast COSM3901343 NCOA2 c.1861G>A p.V621M Substitution - Missense Stomach COSM5497974 KAT6B c.4435G>A p.V1479I Substitution - Missense Biliary_tract COSM4987391 KDM6B c.2254A>G p.T752A Substitution - Missense Soft_tissue COSM1386328 ZBTB4 c.2827G>A p.A943T Substitution - Missense Large_intestine COSM1754766 BRPF3 c.378C>T p.I126I Substitution - coding silent Urinary_tract COSM1266240 SMARCA4 c.2932C>T p.R978* Substitution - Nonsense Ovary COSM1441800 JARID2 c.3287G>A p.R1096H Substitution - Missense Large_intestine COSM5025148 MSH6 c.2291C>T p.T764I Substitution - Missense Large_intestine COSM737916 NIPBL c.268G>T p.G90C Substitution - Missense Bone COSM1416937 BRD1 c.1591G>A p.D531N Substitution - Missense Large_intestine COSM459063 ORC1 c.495C>T p.F165F Substitution - coding silent Cervix COSM3853960 NSD1 c.4127C>A p.P1376H Substitution - Missense Stomach COSM4808228 MPHOSPH8 c.1771G>C p.E591Q Substitution - Missense Pancreas COSM2069219 RNF17 c.682A>C p.S228R Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5878744 DNMT3A c.2577A>C p.L859F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4623899 DOT1L c.4161G>T p.K1387N Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4967673 PHF20L1 c.749C>G p.A250G Substitution - Missense Pancreas COSM3968732 CHD8 c.4802G>A p.G1601E Substitution - Missense Central_nervous_system COSM4791862 AICDA c.468A>T p.E156D Substitution - Missense Liver COSM5963308 PHF17 c.534T>C p.F178F Substitution - coding silent Breast COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1583110 DNMT3A c.2193_2194insT p.E733fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5980967 SRCAP c.4657T>C p.S1553P Substitution - Missense Upper_aerodigestive_tract COSM4061901 CTCF c.838A>C p.N280H Substitution - Missense Stomach COSM3262465 KMT2C c.12693A>G p.V4231V Substitution - coding silent Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM30358 KMT2D c.7495G>A p.D2499N Substitution - Missense Kidney COSM4767586 ARID1B c.189A>G p.Q63Q Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM218875 BAG6 c.1250C>T p.S417L Substitution - Missense Pancreas COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM4887334 ARID2 c.4603G>T p.G1535* Substitution - Nonsense Upper_aerodigestive_tract COSM3599589 PRDM5 c.400G>A p.E134K Substitution - Missense Skin COSM462450 ATRX c.? p.? Unknown Central_nervous_system COSM5465453 SP140_ENST00000392045 c.1453G>T p.D485Y Substitution - Missense Large_intestine COSM5643193 RAD54L c.1687T>C p.S563P Substitution - Missense Oesophagus COSM5473612 BAHD1 c.601C>A p.P201T Substitution - Missense Large_intestine COSM3671763 SCMH1 c.1508-1G>T p.? Unknown Prostate COSM4958128 SMARCA4 c.1251C>T p.R417R Substitution - coding silent Liver COSM33732 IDH2 c.515G>T p.R172M Substitution - Missense Central_nervous_system COSM4592287 SP140_ENST00000392045 c.1948C>G p.P650A Substitution - Missense Upper_aerodigestive_tract COSM3419783 BAZ1A c.2071G>C p.E691Q Substitution - Missense Large_intestine COSM30387 KDM5C c.807delC p.T270fs*2 Deletion - Frameshift Kidney COSM1123261 PHF8 c.3070C>A p.L1024M Substitution - Missense Endometrium COSM1578552 SMARCB1 c.1041delC p.Q348fs*9 Deletion - Frameshift Meninges COSM28394 ARID1A c.4238C>T p.A1413V Substitution - Missense Kidney COSM4411410 EPC1 c.2204T>A p.L735Q Substitution - Missense Kidney COSM1469484 ATRX c.2435C>A p.S812Y Substitution - Missense Large_intestine COSM2961647 MYST3 c.5868A>G p.G1956G Substitution - coding silent Upper_aerodigestive_tract COSM1083695 MLL5 c.5525C>T p.A1842V Substitution - Missense Endometrium COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Biliary_tract COSM29382 SMARCB1 c.1143delG p.A382fs*5 Deletion - Frameshift Central_nervous_system COSM41875 IDH2 c.419G>T p.R140L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85923 ASXL1 c.1934_1934delG p.G645fs*58 Deletion - Frameshift Large_intestine COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM85853 MEN1 c.491C>T p.A164V Substitution - Missense Pancreas COSM116939 SRCAP c.6096C>G p.F2032L Substitution - Missense Ovary COSM112087 TDG c.286_287insA p.I98fs*6 Insertion - Frameshift Upper_aerodigestive_tract COSM149378 SETD2 c.1731G>A p.M577I Substitution - Missense Soft_tissue COSM162523 MLL5 c.4264C>T p.R1422C Substitution - Missense Breast COSM179688 PHF23 c.964C>T p.R322W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM211681 TET2 c.1478_1485delCAGGGACA p.A493fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM225883 KMT2C c.2968A>G p.S990G Substitution - Missense Pancreas COSM300998 SMARCB1 c.115_117delTTC p.F39delF Deletion - In frame Large_intestine COSM291033 HDAC7 c.425G>A p.S142N Substitution - Missense Large_intestine COSM303907 ASXL1 c.1816C>T p.R606W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM303843 TBL1XR1 c.381_382insA p.E128fs*17 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM349428 PHF23 c.223G>A p.D75N Substitution - Missense Lung COSM361531 PHRF1 c.2168G>T p.G723V Substitution - Missense Lung COSM394932 SUV420H1 c.744C>T p.N248N Substitution - coding silent Lung COSM417942 CHD3 c.3563C>T p.A1188V Substitution - Missense Endometrium COSM429988 TRIM66 c.2893G>T p.A965S Substitution - Missense Breast COSM430522 HNF1A c.79A>C p.I27L Substitution - Missense Soft_tissue COSM458855 BMI1 c.742G>A p.E248K Substitution - Missense Large_intestine COSM458072 ATRX c.4788G>A p.M1596I Substitution - Missense Breast COSM956532 ARID4A c.2078C>A p.S693* Substitution - Nonsense Endometrium COSM1023490 KDM3A c.561C>A p.D187E Substitution - Missense Upper_aerodigestive_tract COSM1027429 NCOA5 c.4A>C p.N2H Substitution - Missense Endometrium COSM1026701 ACTR5 c.579G>A p.T193T Substitution - coding silent Endometrium COSM939273 KDM5A c.2161C>A p.P721T Substitution - Missense Endometrium COSM751085 CHD7 c.308C>T p.S103L Substitution - Missense Lung COSM744879 ING3 c.593A>G p.N198S Substitution - Missense Lung COSM732256 BRPF1 c.3487C>T p.L1163L Substitution - coding silent Lung COSM727029 EP300 c.4193T>C p.L1398P Substitution - Missense Lung COSM912527 RERE c.1411G>A p.V471I Substitution - Missense Endometrium COSM929720 MTA2 c.1017-1G>A p.? Unknown Large_intestine COSM1228398 TAF1 c.4505A>C p.D1502A Substitution - Missense Large_intestine COSM1207675 FXR1 c.1745G>A p.G582D Substitution - Missense Large_intestine COSM1179848 KDM6A c.3111G>A p.Q1037Q Substitution - coding silent Soft_tissue COSM1179848 KDM6A c.3111G>A p.Q1037Q Substitution - coding silent Soft_tissue COSM1302573 PHF12 c.2250C>T p.I750I Substitution - coding silent Urinary_tract COSM1293085 UTY c.1264C>T p.P422S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1291484 DNMT3A c.457C>T p.Q153* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1333986 POGZ c.3046delG p.E1016fs*3 Deletion - Frameshift Large_intestine COSM1414686 PRMT2 c.850delT p.S286fs*9 Deletion - Frameshift Large_intestine COSM1430228 CLOCK c.566_567insA p.N189fs*23 Insertion - Frameshift Large_intestine COSM1416291 CBX6 c.724delC p.L242fs*2 Deletion - Frameshift Large_intestine COSM1363352 MBD6 c.2790C>T p.P930P Substitution - coding silent Large_intestine COSM1565740 NCOA3 c.3765G>A p.Q1255Q Substitution - coding silent Large_intestine COSM1486703 PRDM9 c.2126C>G p.T709S Substitution - Missense Liver COSM1620697 CHD1 c.841C>A p.R281R Substitution - coding silent Liver COSM1628728 BAZ2A_ENST00000379441 c.304A>G p.N102D Substitution - Missense Liver COSM1632538 SMARCB1 c.575A>G p.D192G Substitution - Missense Liver COSM1679210 PRMT7 c.701C>T p.S234L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1670717 ACTL6A c.785T>G p.F262C Substitution - Missense Large_intestine COSM1716414 CTCF c.610_611insA p.T204fs*26 Insertion - Frameshift Endometrium COSM1716422 CTCF c.948_949delCA p.T317fs*91 Deletion - Frameshift Endometrium COSM1719241 KDM1B c.938A>G p.N313S Substitution - Missense Skin COSM1723808 LBR c.894A>T p.G298G Substitution - coding silent Skin COSM1747667 TTF2 c.1126C>A p.L376M Substitution - Missense Urinary_tract COSM1732156 BAP1 c.88G>T p.E30* Substitution - Nonsense Kidney COSM1741099 ZBTB33 c.585_586insTGT p.V195_I196insC Insertion - In frame Haematopoietic_and_lymphoid_tissue COSM1965085 KAT6B c.1215T>C p.T405T Substitution - coding silent Upper_aerodigestive_tract COSM1978339 RAG2 c.513_514insA p.W172fs*3 Insertion - Frameshift Large_intestine COSM2044775 PHC1 c.1852C>G p.Q618E Substitution - Missense Large_intestine COSM2105463 KMT2A c.3858C>T p.A1286A Substitution - coding silent Upper_aerodigestive_tract COSM2230155 PRDM2 c.4420G>T p.A1474S Substitution - Missense Soft_tissue COSM2848365 GABRG1 c.1304G>A p.R435H Substitution - Missense Central_nervous_system COSM3254005 MLL5 c.5319G>A p.P1773P Substitution - coding silent Central_nervous_system COSM3508985 SETD1A c.2586C>T p.S862S Substitution - coding silent Skin COSM3508986 SETD1A c.2711C>T p.S904F Substitution - Missense Skin COSM3467852 RNF17 c.106G>A p.G36R Substitution - Missense Skin COSM3600238 PHF17 c.1401C>T p.I467I Substitution - coding silent Skin COSM3514560 NCOR1 c.3113C>T p.P1038L Substitution - Missense Skin COSM3686351 PHIP c.3657-4delT p.? Unknown Prostate COSM3707011 SETD1A c.2630C>T p.A877V Substitution - Missense Liver COSM3724252 ZMYM6 c.1512C>T p.A504A Substitution - coding silent Upper_aerodigestive_tract COSM3731369 ZMYM4 c.1281_1282insA p.P431fs*9 Insertion - Frameshift Large_intestine COSM3713445 BRWD1 c.2867C>T p.P956L Substitution - Missense Upper_aerodigestive_tract COSM3935524 GLYATL1 c.574G>A p.E192K Substitution - Missense Oesophagus COSM3938569 BAZ2B c.4141C>T p.R1381C Substitution - Missense Oesophagus COSM3916906 TET2 c.313G>A p.G105R Substitution - Missense Skin COSM3890963 ASXL3 c.1427G>A p.R476K Substitution - Missense Skin COSM3954836 KMT2D c.12907T>A p.F4303I Substitution - Missense Lung COSM4036089 SUV420H1 c.152C>T p.S51L Substitution - Missense Stomach COSM4042415 KMT2D c.1169T>C p.V390A Substitution - Missense Stomach COSM4104433 EP300 c.2250C>T p.G750G Substitution - coding silent Stomach COSM4131895 SIRT6 c.311T>A p.V104E Substitution - Missense Thyroid COSM4150745 CHD8 c.102G>A p.E34E Substitution - coding silent Kidney COSM4170153 TET2 c.2804_2805delGA p.G935fs*36 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4170395 KMT2D c.14465G>T p.C4822F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4383811 TET2 c.1528G>T p.E510* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4383548 DNMT3A c.2159G>A p.R720H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4385265 EP300 c.6796_6798delCAG p.Q2268delQ Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM4445239 CHD8 c.6112C>A p.P2038T Substitution - Missense Large_intestine COSM4585002 WHSC1 c.2331G>A p.P777P Substitution - coding silent Bone COSM4686496 GATAD2A c.1173G>A p.S391S Substitution - coding silent Large_intestine COSM4695051 KDM6B c.752_753insACC p.P264_L265insP Insertion - In frame Large_intestine COSM4693799 JARID2 c.1556G>T p.S519I Substitution - Missense Large_intestine COSM4665028 BAG6 c.1521G>A p.R507R Substitution - coding silent Large_intestine COSM4630609 ZGPAT c.1371G>A p.L457L Substitution - coding silent Large_intestine COSM4625110 DHX30 c.2618G>A p.R873H Substitution - Missense Large_intestine COSM4638252 KDM4B c.3050C>T p.T1017M Substitution - Missense Large_intestine COSM4806557 PHF8 c.2915C>T p.P972L Substitution - Missense Pancreas COSM4791132 JMJD5 c.1042G>A p.A348T Substitution - Missense Liver COSM4791694 HNF1A c.614A>C p.K205T Substitution - Missense Liver COSM4883479 SETD5_ENST00000402198 c.1073C>A p.A358E Substitution - Missense Upper_aerodigestive_tract COSM4961357 NCOA6 c.901G>A p.G301R Substitution - Missense Liver COSM4949534 SETD5_ENST00000402198 c.1352T>A p.M451K Substitution - Missense Liver COSM5030160 PRDM9 c.2347C>T p.R783W Substitution - Missense Bone COSM5053182 ACTA1 c.1010G>A p.R337H Substitution - Missense Stomach COSM5513830 BRWD3 c.2043T>C p.G681G Substitution - coding silent Biliary_tract COSM5519969 PBRM1 c.2168_2169insT p.M724fs*3 Insertion - Frameshift Biliary_tract COSM5463916 MBD6 c.1260C>T p.T420T Substitution - coding silent Large_intestine COSM5435145 PHF3 c.5110G>A p.A1704T Substitution - Missense Oesophagus COSM5447097 MTA1 c.789C>T p.Y263Y Substitution - coding silent Large_intestine COSM5433959 TAF1L c.1890A>T p.K630N Substitution - Missense Oesophagus COSM5626524 KDM1A c.1321C>G p.Q441E Substitution - Missense Oesophagus COSM5735619 SETDB1 c.674G>A p.G225E Substitution - Missense Small_intestine COSM5576823 MSH6 c.3766T>A p.Y1256N Substitution - Missense Skin COSM5620362 BRD3 c.1966T>G p.S656A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5658974 PHF8 c.2308G>T p.A770S Substitution - Missense Soft_tissue COSM5671946 TDRD5 c.1567G>T p.E523* Substitution - Nonsense Soft_tissue COSM5695401 TRRAP c.5427G>T p.S1809S Substitution - coding silent Soft_tissue COSM5670661 JHDM1D c.831_832delCT p.S277fs*7 Deletion - Frameshift Soft_tissue COSM5547887 ASH1L c.5829-8delC p.? Unknown Prostate COSM5554531 CHD3 c.3522C>T p.G1174G Substitution - coding silent Prostate COSM5552886 SMCHD1 c.3028G>A p.E1010K Substitution - Missense Prostate COSM5781898 MUM1 c.1036C>T p.L346L Substitution - coding silent Breast COSM5790697 WHSC1L1 c.854C>A p.P285H Substitution - Missense Breast COSM5866449 GABRG1 c.136G>A p.D46N Substitution - Missense Skin COSM5811783 EP400 c.1333G>T p.E445* Substitution - Nonsense Liver COSM5818628 ARID1A c.2255A>C p.Y752S Substitution - Missense Liver COSM5944721 ASXL1 c.2345_2346insC p.P783fs*4 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5967667 BPTF c.5871A>G p.S1957S Substitution - coding silent Upper_aerodigestive_tract COSM6017849 ASXL1 c.1923C>T p.I641I Substitution - coding silent Skin COSM6007628 KAT6B c.5903G>A p.S1968N Substitution - Missense Prostate COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5574265 IDH1 c.? p.A134T Substitution - Missense Bone COSM1737979 BAP1 c.? p.? Unknown Eye COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Bone COSM307759 TET2 c.? p.L34F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM86082 KMT2C c.2418C>G p.S806S Substitution - coding silent Soft_tissue COSM3649308 MYST3 c.686C>T p.S229F Substitution - Missense Skin COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM1756770 EP400 c.9365G>A p.C3122Y Substitution - Missense Urinary_tract COSM3341145 NSD1 c.4347T>C p.C1449C Substitution - coding silent Large_intestine COSM87117 TET2 c.3409+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3064195 BRD1 c.1956G>A p.A652A Substitution - coding silent Large_intestine COSM3440090 SFMBT2 c.2090C>T p.S697F Substitution - Missense Skin COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM5999242 EPC1 c.1127G>A p.S376N Substitution - Missense Prostate COSM740043 EYA4 c.540C>A p.A180A Substitution - coding silent Lung COSM5901652 HELLS c.436G>A p.E146K Substitution - Missense Skin COSM729838 TBL1XR1 c.258C>T p.A86A Substitution - coding silent Lung COSM4564045 KDM6A c.3420_3421GA>AC p.S1141R Substitution - Missense Skin COSM4186658 EZH1 c.1473_1481delGAAGAAGAA p.K492_K494delKKK Deletion - In frame Kidney COSM5901683 SFMBT2 c.196-7C>T p.? Unknown Skin COSM5591437 KAT2B c.333_334insA p.N113fs*3 Insertion - Frameshift Skin COSM3724539 MEN1 c.473C>A p.A158D Substitution - Missense Lung COSM4480363 PRDM1 c.2303C>T p.P768L Substitution - Missense Skin COSM3602382 ING2 c.786T>A p.N262K Substitution - Missense Skin COSM3987964 TP53BP1 c.3651C>T p.L1217L Substitution - coding silent Kidney COSM3954797 HDAC7 c.485G>C p.R162P Substitution - Missense Lung COSM1613012 TRIM28 c.2067_2068insACTGGCG p.V692fs*16 Insertion - Frameshift Liver COSM987387 AP001011.3_ENST00000320876 c.1495G>T p.G499W Substitution - Missense Endometrium COSM51254 ARID1A c.5904_5905insGT p.T1969fs*47 Insertion - Frameshift Ovary COSM3637568 STK31 c.2968A>G p.T990A Substitution - Missense Skin COSM5490569 ARID2 c.3040C>T p.Q1014* Substitution - Nonsense Biliary_tract COSM5020371 ATRX c.4659T>C p.H1553H Substitution - coding silent Soft_tissue COSM5051795 BAZ2A c.415C>A p.P139T Substitution - Missense Stomach COSM1635198 KMT2C c.2185A>G p.N729D Substitution - Missense Upper_aerodigestive_tract COSM5631222 TDRD5 c.2208T>G p.G736G Substitution - coding silent Oesophagus COSM5415018 CBX3 c.179C>T p.T60I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM908381 PRDM16 c.3024C>A p.F1008L Substitution - Missense Endometrium COSM255037 ZMYND8 c.469G>C p.E157Q Substitution - Missense Urinary_tract COSM3848251 SMARCA2 c.3382G>A p.A1128T Substitution - Missense Breast COSM97100 BPTF c.5733_5734AG>CC p.V1912L Substitution - Missense Ovary COSM4981685 ZBTB38 c.2208G>A p.M736I Substitution - Missense Oesophagus COSM5680761 PHC3 c.1539C>G p.S513S Substitution - coding silent Soft_tissue COSM3091901 SMARCA2 c.3637C>T p.R1213W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM70169 CHD6 c.1319G>A p.R440Q Substitution - Missense Ovary COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM5002843 TRRAP c.9748G>A p.E3250K Substitution - Missense Pancreas COSM5926573 SHPRH c.2278C>T p.H760Y Substitution - Missense Skin COSM1700243 EYA1 c.1095G>A p.M365I Substitution - Missense Skin COSM217005 HNF1A c.1574C>T p.T525I Substitution - Missense Liver COSM4104439 EP300 c.6048G>A p.M2016I Substitution - Missense Stomach COSM4581964 DIDO1 c.133G>T p.A45S Substitution - Missense Bone COSM3160256 PHF3 c.1626T>C p.H542H Substitution - coding silent Large_intestine COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4110857 ZMYM3 c.3537C>T p.L1179L Substitution - coding silent Stomach COSM4387425 BAP1 c.151_215del65 p.K51fs*1 Deletion - Frameshift Eye COSM3408822 ACTR8 c.910C>T p.R304W Substitution - Missense Central_nervous_system COSM1291312 MBD5 c.4039G>A p.G1347R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1602220 RBBP4 c.481C>G p.P161A Substitution - Missense Liver COSM4827043 ASH1L c.7416G>A p.K2472K Substitution - coding silent Cervix COSM3440914 TAF3 c.2529C>T p.P843P Substitution - coding silent Skin COSM3620808 EYA4 c.970+1G>T p.? Unknown Skin COSM1067094 PRDM9 c.2496T>C p.Y832Y Substitution - coding silent Urinary_tract COSM927113 PHF21A c.948C>T p.L316L Substitution - coding silent Endometrium COSM284222 PRDM9 c.394G>T p.E132* Substitution - Nonsense Stomach COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4603894 ASH1L c.7891-5delA p.? Unknown Upper_aerodigestive_tract COSM383722 POGZ c.1931G>C p.R644T Substitution - Missense Lung COSM5967279 SMARCB1 c.351_352insC p.T118fs*52 Insertion - Frameshift Salivary_gland COSM166346 DNMT3A c.? p.?fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4111271 BRWD3 c.1678G>A p.D560N Substitution - Missense Stomach COSM4593742 AP001011.3_ENST00000320876 c.35C>G p.A12G Substitution - Missense Upper_aerodigestive_tract COSM966442 IDH2 c.682A>C p.I228L Substitution - Missense Endometrium COSM1387345 CHD3 c.196C>T p.R66* Substitution - Nonsense Large_intestine COSM223221 KMT2C c.566C>T p.P189L Substitution - Missense Skin COSM1732029 PBRM1 c.608_609insC p.I204fs*2 Insertion - Frameshift Kidney COSM5605108 TDRD6 c.5363T>G p.I1788S Substitution - Missense Skin COSM4602657 PRMT6 c.152C>G p.A51G Substitution - Missense Upper_aerodigestive_tract COSM4773174 HNF1A c.1773C>A p.S591S Substitution - coding silent Stomach COSM4468779 KMT2D c.14810C>T p.P4937L Substitution - Missense Skin COSM5423341 KDM6A c.268A>T p.K90* Substitution - Nonsense Prostate COSM4512213 MBD6 c.895C>T p.L299L Substitution - coding silent Skin COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1027965 ADNP c.2573C>T p.A858V Substitution - Missense Endometrium COSM3301690 CLOCK c.1079A>G p.H360R Substitution - Missense Large_intestine COSM3857057 CHD1 c.3563A>G p.E1188G Substitution - Missense Stomach COSM12930 TAF1L c.2284C>A p.L762I Substitution - Missense Lung COSM5183046 KDM4B c.152C>T p.P51L Substitution - Missense Large_intestine COSM216777 KMT2C c.5065G>T p.E1689* Substitution - Nonsense Pancreas COSM4537577 INOC1 c.2438G>A p.R813K Substitution - Missense Skin COSM87010 DNMT3A c.2309C>G p.S770W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3771443 SETDB1 c.587G>A p.G196D Substitution - Missense Pancreas COSM4853604 DNMT3L c.589G>C p.E197Q Substitution - Missense Cervix COSM3578890 SP140_ENST00000392045 c.612G>A p.K204K Substitution - coding silent Skin COSM4131185 SMARCA4 c.1524T>C p.H508H Substitution - coding silent Soft_tissue COSM43477 TET2 c.(1060_1062)insA p.(S354_G355)fs*? Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5457512 CHD9 c.3937_3938insGA p.E1313fs*11 Insertion - Frameshift Large_intestine COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4843223 PHF12 c.316C>G p.R106G Substitution - Missense Cervix COSM1257401 MBD4 c.1056T>C p.F352F Substitution - coding silent Oesophagus COSM426008 ARID1A c.3715G>A p.A1239T Substitution - Missense Breast COSM5158971 KDM4B c.3234C>T p.Y1078Y Substitution - coding silent Large_intestine COSM5668779 BPTF c.7288C>G p.P2430A Substitution - Missense Soft_tissue COSM5567418 ZGPAT c.714C>T p.I238I Substitution - coding silent Prostate COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5006579 SETD2 c.? p.S63T Substitution - Missense Kidney COSM4040296 EP400 c.8220G>A p.Q2740Q Substitution - coding silent Stomach COSM1449841 HDAC9 c.1874C>A p.A625E Substitution - Missense Large_intestine COSM1685364 SETBP1 c.2612T>C p.I871T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4775185 DNMT3A c.1668-5_1668-1delTCCAG p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5740835 PHF23 c.184T>C p.S62P Substitution - Missense Small_intestine COSM1296224 ARID1A c.3598C>T p.Q1200* Substitution - Nonsense Skin COSM5347210 ARID1A c.?_?del? p.A2205fs*? Deletion - Frameshift Endometrium COSM757219 PHF16 c.997G>T p.A333S Substitution - Missense Lung COSM4996285 HDAC11 c.385G>A p.V129M Substitution - Missense Upper_aerodigestive_tract COSM1961378 LBR c.1239C>T p.R413R Substitution - coding silent Stomach COSM3844040 HCFC1 c.2008A>C p.T670P Substitution - Missense Breast COSM3900250 MYST3 c.1279C>T p.R427W Substitution - Missense Stomach COSM4482426 TDRD7 c.2604C>T p.P868P Substitution - coding silent Skin COSM4171092 EP300 c.2003C>T p.S668F Substitution - Missense Skin COSM4850256 CHD7 c.74G>A p.G25E Substitution - Missense Cervix COSM1603169 PWWP2B c.45G>T p.Q15H Substitution - Missense Liver COSM1221421 POGZ c.2465T>G p.F822C Substitution - Missense Large_intestine COSM5366669 L3MBTL2 c.69C>A p.D23E Substitution - Missense Large_intestine COSM2266924 RNF17 c.265A>G p.M89V Substitution - Missense Skin COSM3666011 KMT2A c.11441T>C p.L3814P Substitution - Missense Liver COSM3685952 SCMH1 c.1651-3delC p.? Unknown Large_intestine COSM467637 ACTR6 c.1112A>G p.D371G Substitution - Missense Kidney COSM3488159 HDAC1 c.750G>A p.E250E Substitution - coding silent Skin COSM3794526 CHD2 c.859G>C p.E287Q Substitution - Missense Urinary_tract COSM4717507 PRDM4 c.2086C>A p.H696N Substitution - Missense Large_intestine COSM1093563 TRRAP c.1356C>T p.F452F Substitution - coding silent Endometrium COSM1732201 SETD2 c.4222C>T p.Q1408* Substitution - Nonsense Kidney COSM1125392 ATRX c.6815A>G p.K2272R Substitution - Missense Endometrium COSM282696 MBD6 c.2155G>A p.A719T Substitution - Missense Large_intestine COSM1188327 SUV420H1 c.713A>T p.E238V Substitution - Missense Lung COSM5945458 EP300 c.3601T>C p.C1201R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM211748 TET2 c.5556_5556delG p.S1853fs*34 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM39950 CHD6 c.806G>A p.G269D Substitution - Missense Central_nervous_system COSM690887 KDM4D c.1182G>C p.G394G Substitution - coding silent Lung COSM5930116 TCF20 c.4082C>T p.S1361F Substitution - Missense Skin COSM1616547 PHF21B c.1514C>A p.A505D Substitution - Missense Liver COSM3812048 ARID2 c.1561G>A p.E521K Substitution - Missense Breast COSM5020013 TET2 c.5162T>G p.L1721W Substitution - Missense Soft_tissue COSM392250 PRDM9 c.424delG p.A142fs*26 Deletion - Frameshift Lung COSM4790486 HDAC5 c.1638C>A p.T546T Substitution - coding silent Liver COSM1716914 ASXL1 c.1161T>A p.C387* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3694207 HCFC1 c.2432C>T p.T811M Substitution - Missense Large_intestine COSM255008 KDM6A c.1528-1G>C p.? Unknown Urinary_tract COSM4411435 CBX7 c.214_216AGA>G p.R72fs*43 Complex - frameshift Kidney COSM1228831 TDRD6 c.2939A>G p.H980R Substitution - Missense Large_intestine COSM5719423 TDRD5 c.2007C>T p.F669F Substitution - coding silent Skin COSM5634232 EHMT1 c.1549C>T p.H517Y Substitution - Missense Oesophagus COSM4527824 MBD6 c.1492G>A p.G498R Substitution - Missense Skin COSM1445549 PHF3 c.1589G>A p.R530Q Substitution - Missense Large_intestine COSM1067057 PRDM9 c.95C>A p.S32Y Substitution - Missense Endometrium COSM252994 EPC1 c.1243-4delT p.? Unknown Biliary_tract COSM5410542 PRDM12 c.353C>T p.T118I Substitution - Missense Skin COSM1483330 KDM3A c.2647G>A p.G883S Substitution - Missense Breast COSM913233 BRDT c.1108G>A p.E370K Substitution - Missense Stomach COSM4663701 ASH1L c.4871G>A p.R1624Q Substitution - Missense Large_intestine COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1078491 BRPF3 c.2778C>T p.R926R Substitution - coding silent Endometrium COSM5724226 CREBBP c.2867C>T p.P956L Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2149273 SMARCA2 c.476G>A p.G159D Substitution - Missense Central_nervous_system COSM5976040 TDRD6 c.1715G>A p.R572Q Substitution - Missense Upper_aerodigestive_tract COSM3763707 GTF3C4 c.36G>A p.A12A Substitution - coding silent Large_intestine COSM1481994 EPC2 c.434G>A p.R145K Substitution - Missense Breast COSM3358380 PHF2 c.378C>T p.P126P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4959347 GTF3C1 c.4090G>A p.A1364T Substitution - Missense Liver COSM5997731 KMT2C c.1721G>A p.G574E Substitution - Missense Prostate COSM240081 HDAC11 c.67C>T p.R23C Substitution - Missense Prostate COSM3916780 BRPF1 c.662A>G p.D221G Substitution - Missense Skin COSM3596050 PHF7 c.949C>T p.P317S Substitution - Missense Skin COSM1021895 SMEK2 c.337C>A p.L113I Substitution - Missense Endometrium COSM1178314 MYST3 c.1364-2A>T p.? Unknown Prostate COSM677833 TDRD5 c.2272G>A p.A758T Substitution - Missense Lung COSM4717502 PRDM2 c.2974A>T p.T992S Substitution - Missense Large_intestine COSM1348088 ERCC6 c.980G>A p.R327H Substitution - Missense Cervix COSM13343 MSH6 c.2425delG p.V809fs*1 Deletion - Frameshift Central_nervous_system COSM3883710 TRRAP c.2632C>T p.R878C Substitution - Missense Stomach COSM1297500 BTAF1 c.4850C>T p.S1617L Substitution - Missense Urinary_tract COSM5977181 EHMT1 c.1332C>T p.D444D Substitution - coding silent Upper_aerodigestive_tract COSM3816138 TP53BP1 c.2185C>G p.Q729E Substitution - Missense Breast COSM1492529 RAG2 c.1154G>A p.C385Y Substitution - Missense Kidney COSM1296734 RERE c.3982G>A p.E1328K Substitution - Missense Urinary_tract COSM2720159 CHD7 c.8196C>T p.A2732A Substitution - coding silent Ovary COSM4161824 TIF1 c.26T>G p.V9G Substitution - Missense Thyroid COSM3385528 RNF2 c.350G>A p.R117H Substitution - Missense Pancreas COSM12927 STK31 c.2050C>T p.H684Y Substitution - Missense Skin COSM2165423 DPF2 c.138C>T p.T46T Substitution - coding silent Prostate COSM5975873 ARID1B c.787_792delGGAGGA p.G269_G270delGG Deletion - In frame Upper_aerodigestive_tract COSM5942780 MBD1 c.1147-6C>T p.? Unknown Skin COSM3341127 NSD1 c.3717A>G p.K1239K Substitution - coding silent Large_intestine COSM3930018 TAF1L c.4888T>C p.L1630L Substitution - coding silent Central_nervous_system COSM133136 DNMT3A c.1964T>A p.I655N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4064151 NCOR1 c.4813G>A p.A1605T Substitution - Missense Stomach COSM5366922 PHF6 c.978T>C p.C326C Substitution - coding silent Large_intestine COSM4972234 SETD2 c.2899C>A p.P967T Substitution - Missense Thyroid COSM4010185 RERE c.3436C>T p.R1146W Substitution - Missense Stomach COSM1625033 KIAA2026_ENST00000399933 c.4380A>G p.T1460T Substitution - coding silent Liver COSM5823115 PCGF1 c.513T>A p.N171K Substitution - Missense Liver COSM110112 KDM4A c.454C>T p.R152W Substitution - Missense Skin COSM1493672 CHD9 c.7717-2A>G p.? Unknown Kidney COSM4689676 HDAC4 c.2239G>A p.V747I Substitution - Missense Large_intestine COSM3778911 PHF20L1 c.634G>A p.E212K Substitution - Missense Urinary_tract COSM231563 DNMT3A c.2311C>T p.R771* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM328834 PBRM1 c.2140A>T p.M714L Substitution - Missense Liver COSM3656862 TAF1L c.1906C>T p.R636C Substitution - Missense Skin COSM4395144 ALKBH1 c.1061C>T p.P354L Substitution - Missense Skin COSM4047970 PHF11 c.496G>A p.A166T Substitution - Missense Stomach COSM4994216 RAI1 c.1367A>C p.K456T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6002326 MYST1 c.1151A>T p.D384V Substitution - Missense Prostate COSM1211252 JARID2 c.2197C>T p.R733C Substitution - Missense Breast COSM5822689 TDRD10 c.555G>T p.W185C Substitution - Missense Liver COSM1066233 NSD1 c.3205C>T p.Q1069* Substitution - Nonsense Endometrium COSM1465113 MSL3 c.1314delC p.P440fs*22 Deletion - Frameshift Large_intestine COSM4169775 ASXL1 c.1771_1772insA p.Y591fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5893568 MTA2 c.491-6C>T p.? Unknown Skin COSM3500895 BAHD1 c.13C>T p.R5W Substitution - Missense Skin COSM1169696 TET2 c.4619_4619delA p.Q1540fs*31 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4731012 SUZ12 c.2098G>T p.E700* Substitution - Nonsense Large_intestine COSM100063 TET2 c.1645_1645delA p.T549fs*12 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5996983 RING1 c.237C>T p.S79S Substitution - coding silent Prostate COSM4438508 SETD4 c.1118A>C p.K373T Substitution - Missense Oesophagus COSM1412149 NCOA5 c.1367C>T p.A456V Substitution - Missense Large_intestine COSM5407153 HDAC9 c.919G>A p.V307I Substitution - Missense Skin COSM2145418 ERCC6 c.4034C>T p.S1345L Substitution - Missense Breast COSM4950758 PHF14 c.112G>C p.D38H Substitution - Missense Liver COSM161460 HCFC1 c.1578C>T p.S526S Substitution - coding silent Breast COSM5998236 TAF1L c.1526C>T p.A509V Substitution - Missense Prostate COSM3824711 SETD5_ENST00000402198 c.572C>G p.S191C Substitution - Missense Breast COSM5681836 MBD5 c.387A>T p.G129G Substitution - coding silent Soft_tissue COSM1161850 WHSC1 c.581G>T p.S194I Substitution - Missense Kidney COSM1685370 SETBP1 c.? p.G870V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1093639 TRRAP c.5194C>T p.R1732C Substitution - Missense Endometrium COSM2732633 PHF2 c.2851delA p.K953fs*7 Deletion - Frameshift Large_intestine COSM4508998 SMARCA4 c.793C>T p.P265S Substitution - Missense Skin COSM1087655 KMT2C c.1292A>G p.K431R Substitution - Missense Endometrium COSM3750275 TTF2 c.861C>T p.N287N Substitution - coding silent Large_intestine COSM1752416 SP140_ENST00000392045 c.1600G>A p.E534K Substitution - Missense Central_nervous_system COSM5578965 MECOM c.1444G>A p.E482K Substitution - Missense Skin COSM111693 KAT6B c.3289_3291delGAA p.E1097delE Deletion - In frame Upper_aerodigestive_tract COSM1454656 ATAD2 c.825T>A p.D275E Substitution - Missense Stomach COSM5754921 CDYL2 c.1360G>T p.V454L Substitution - Missense Large_intestine COSM4168307 KDM6A c.3337G>T p.V1113L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM966688 CHD2 c.87G>A p.S29S Substitution - coding silent Endometrium COSM2773698 KIAA1045 c.326G>A p.R109Q Substitution - Missense Stomach COSM1027506 EYA2 c.908G>A p.R303H Substitution - Missense Endometrium COSM5434875 BAZ2A c.1985A>T p.D662V Substitution - Missense Oesophagus COSM1071540 CHD1 c.5010T>G p.A1670A Substitution - coding silent Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM135743 NCOR1 c.3688G>A p.E1230K Substitution - Missense Skin COSM1441834 ARID1B c.5920C>T p.P1974S Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4768822 NIPBL c.1772C>G p.S591C Substitution - Missense Biliary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4153981 MBD1 c.909+3G>T p.? Unknown Kidney COSM3495804 BAZ1A c.4114C>T p.P1372S Substitution - Missense Skin COSM314661 RAD54L c.1044G>A p.G348G Substitution - coding silent Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5761186 RAD54L c.187C>T p.P63S Substitution - Missense Pancreas COSM53311 IDH2 c.? p.R140W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4442573 EHMT1 c.839C>T p.T280M Substitution - Missense Large_intestine COSM1639819 ARID1A c.4550delC p.Q1519fs*8 Deletion - Frameshift Stomach COSM5945317 CREBBP c.2318C>T p.P773L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1114795 SMARCA1 c.1498G>T p.E500* Substitution - Nonsense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM252866 TDRD1 c.2434C>T p.R812* Substitution - Nonsense Ovary COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4826896 BRWD1 c.1936G>C p.D646H Substitution - Missense Cervix COSM4444075 SETD5_ENST00000402198 c.1093G>A p.A365T Substitution - Missense Large_intestine COSM1132295 HDAC6 c.1102C>T p.H368Y Substitution - Missense Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1159115 INTS12 c.705_712delTTCTGTAA p.V237fs*8 Deletion - Frameshift Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM52908 PBRM1 c.2783delC p.A928fs*86 Deletion - Frameshift Kidney COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1738146 EZH2 c.1_2256del2256 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM131036 ARID2 c.4753_4756delGTAC p.V1585fs*40 Deletion - Frameshift Liver COSM4550181 BPTF c.4570G>A p.E1524K Substitution - Missense Skin COSM3905431 BRD3 c.794C>T p.P265L Substitution - Missense Stomach COSM3304340 KMT2C c.2895T>C p.S965S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1681609 ASXL1 c.1773C>A p.Y591* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM242012 TP53BP1 c.4639C>G p.L1547V Substitution - Missense Prostate COSM417037 SETD1A c.4312G>C p.E1438Q Substitution - Missense Urinary_tract COSM4702389 KMT2A c.4677C>T p.C1559C Substitution - coding silent Large_intestine COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM1263753 RAG2 c.1110A>C p.E370D Substitution - Missense Oesophagus COSM377296 TRIM24 c.2719-1G>C p.? Unknown Lung COSM1670246 BAP1 c.1550C>T p.T517M Substitution - Missense Large_intestine COSM99740 DNMT3A c.2645G>C p.R882P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1088155 HDAC9 c.978C>A p.T326T Substitution - coding silent Endometrium COSM4383590 DNMT3A c.1031T>A p.L344Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM745922 SMARCD3 c.465G>T p.A155A Substitution - coding silent Lung COSM742687 CDYL c.1544G>T p.C515F Substitution - Missense Lung COSM223617 EP400 c.5090C>T p.P1697L Substitution - Missense Skin COSM1130619 EYA2 c.1022A>C p.N341T Substitution - Missense Prostate COSM315857 TDRD6 c.4975A>G p.T1659A Substitution - Missense Lung COSM5765611 HDAC9 c.1811A>G p.E604G Substitution - Missense Large_intestine COSM3719196 SETD1A c.1145A>G p.Y382C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1045479 SETD2 c.2671G>T p.E891* Substitution - Nonsense Endometrium COSM1053 SMARCB1 c.146C>A p.S49* Substitution - Nonsense Central_nervous_system COSM2243421 RERE c.3905G>A p.R1302Q Substitution - Missense Stomach COSM1685945 GABRG1 c.1274G>A p.G425E Substitution - Missense Skin COSM80396 PRMT8 c.1107C>T p.D369D Substitution - coding silent Ovary COSM4717441 PRDM10 c.3369C>T p.S1123S Substitution - coding silent Large_intestine COSM240663 MGMT c.72delT p.C24fs*8 Deletion - Frameshift Prostate COSM1067739 NIPBL c.8134G>A p.A2712T Substitution - Missense Endometrium COSM349331 EZH1 c.2057G>A p.R686Q Substitution - Missense Endometrium COSM22579 MEN1 c.256A>T p.I86F Substitution - Missense Small_intestine COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM30582 SMARCA4 c.4826T>C p.L1609P Substitution - Missense Central_nervous_system COSM35885 MSH6 c.124C>T p.P42S Substitution - Missense Breast COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM51437 ARID1A c.4165T>C p.Y1389H Substitution - Missense Ovary COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM79136 ARID1A c.5122C>T p.Q1708* Substitution - Nonsense Ovary COSM107494 TRRAP c.2165C>T p.S722F Substitution - Missense Skin COSM109442 ARID4A c.1914G>A p.K638K Substitution - coding silent Skin COSM221116 KMT2D c.13189+1G>A p.? Unknown Stomach COSM221605 TET2 c.4532T>A p.L1511* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM211708 TET2 c.591_591delT p.I197fs*10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM225064 KDM4B c.1960C>T p.P654S Substitution - Missense Skin COSM229283 SRCAP c.7477C>T p.P2493S Substitution - Missense Skin COSM238474 ZMYM4 c.3639T>A p.A1213A Substitution - coding silent Prostate COSM255146 MEN1 c.1431_1440del10 p.E477fs*79 Deletion - Frameshift Parathyroid COSM277278 SIRT1 c.1547G>A p.R516Q Substitution - Missense Large_intestine COSM291735 CREBBP c.5039_5041delCCT p.S1680delS Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM293664 PHF14 c.877C>A p.L293I Substitution - Missense Large_intestine COSM310827 EHMT1 c.2015G>A p.G672E Substitution - Missense Lung COSM363656 MEN1 c.650A>T p.E217V Substitution - Missense Lung COSM381706 KDM1A c.1981G>A p.V661I Substitution - Missense Lung COSM429380 PHRF1 c.2394G>C p.T798T Substitution - coding silent Breast COSM445986 TBL1XR1 c.423_424insTA p.A142fs*1 Insertion - Frameshift Breast COSM982729 SMARCD2 c.685G>A p.G229S Substitution - Missense Endometrium COSM487270 EHMT1 c.2619+1G>A p.? Unknown Kidney COSM1030663 BRWD1 c.6323C>A p.P2108H Substitution - Missense Endometrium COSM919501 JMJD1C c.1765T>G p.L589V Substitution - Missense Endometrium COSM754351 KDM4C c.3054G>T p.G1018G Substitution - coding silent Lung COSM708189 AP001011.3_ENST00000320876 c.644A>T p.H215L Substitution - Missense Lung COSM703020 CREBBP c.170G>T p.G57V Substitution - Missense Lung COSM703029 CREBBP c.2827C>T p.Q943* Substitution - Nonsense Breast COSM723657 CHD6 c.4455C>T p.S1485S Substitution - coding silent Lung COSM907726 ARID1A c.4336C>T p.R1446* Substitution - Nonsense Large_intestine COSM908628 ZMYM6 c.669A>C p.K223N Substitution - Missense Endometrium COSM929720 MTA2 c.1017-1G>A p.? Unknown Endometrium COSM1041691 FXR1 c.436G>A p.A146T Substitution - Missense Endometrium COSM1040974 MECOM c.504G>A p.T168T Substitution - coding silent Endometrium COSM1060886 PHF15 c.136G>A p.E46K Substitution - Missense Endometrium COSM1100876 CHD7 c.7198C>T p.R2400W Substitution - Missense Endometrium COSM1091564 BAZ1B c.1753T>C p.L585L Substitution - coding silent Endometrium COSM1099924 MYST3 c.4192G>A p.E1398K Substitution - Missense Endometrium COSM1250080 DIDO1 c.523G>A p.E175K Substitution - Missense Oesophagus COSM1184921 BRDT c.2521C>T p.R841W Substitution - Missense Large_intestine COSM1204296 DNMT3A c.1058C>T p.A353V Substitution - Missense Large_intestine COSM1184388 KMT2C c.12740C>A p.S4247* Substitution - Nonsense Large_intestine COSM1184436 BAP1 c.382G>T p.G128* Substitution - Nonsense Large_intestine COSM1227531 SRCAP c.283G>A p.E95K Substitution - Missense Large_intestine COSM1225435 SFMBT2 c.1849C>T p.R617W Substitution - Missense Pancreas COSM1159017 ARID2 c.2815_2816insA p.Y939fs*1 Insertion - Frameshift Pancreas COSM1603739 KAT6B c.505G>A p.G169R Substitution - Missense Liver COSM1309193 SETD2 c.2326G>A p.G776R Substitution - Missense Urinary_tract COSM1292618 PHF20L1 c.613G>T p.E205* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1329950 KMT2C c.12619G>C p.G4207R Substitution - Missense Ovary COSM1390291 SMARCA4 c.4887T>C p.D1629D Substitution - coding silent Soft_tissue COSM1421140 FXR1 c.363_364insA p.N124fs*5 Insertion - Frameshift Large_intestine COSM1362047 KMT2D c.4167C>T p.C1389C Substitution - coding silent Large_intestine COSM1356364 KDM2A c.3133C>T p.R1045W Substitution - Missense Large_intestine COSM1559267 TRIM33 c.157G>C p.A53P Substitution - Missense Central_nervous_system COSM1568252 PHIP c.5113T>G p.L1705V Substitution - Missense Large_intestine COSM1475831 SUV420H1 c.309C>T p.S103S Substitution - coding silent Breast COSM1493977 ZBTB4 c.2596A>G p.S866G Substitution - Missense Kidney COSM1483165 SMEK2 c.545G>C p.C182S Substitution - Missense Breast COSM1627521 ERCC6 c.1027C>T p.Q343* Substitution - Nonsense Liver COSM1581045 IDH1 c.16A>G p.S6G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1622996 ACTB c.504delG p.Y169fs*17 Deletion - Frameshift Liver COSM1628616 ARID2 c.5305C>T p.R1769* Substitution - Nonsense Liver COSM1633899 LMNB1 c.1560G>A p.S520S Substitution - coding silent Liver COSM1681613 DNMT3B c.2020G>A p.E674K Substitution - Missense Large_intestine COSM1716625 ATRX c.1067_1068insA p.L359fs*3 Insertion - Frameshift Central_nervous_system COSM1715207 BRWD3 c.4622C>T p.S1541L Substitution - Missense Skin COSM1709320 PRMT7 c.1201C>T p.P401S Substitution - Missense Skin COSM1720665 TDRD1 c.266C>T p.P89L Substitution - Missense Skin COSM1732058 SETD2 c.170C>G p.S57* Substitution - Nonsense Kidney COSM1732101 BAP1 c.1306C>T p.Q436* Substitution - Nonsense Kidney COSM1756874 PRDM16 c.2049G>C p.L683L Substitution - coding silent Urinary_tract COSM2042537 SUV420H1 c.1680G>A p.T560T Substitution - coding silent Large_intestine COSM2078154 RBBP4 c.515G>A p.R172H Substitution - Missense Large_intestine COSM2230102 PRDM2 c.1783T>G p.L595V Substitution - Missense Large_intestine COSM2251486 SMEK1 c.955A>G p.T319A Substitution - Missense Large_intestine COSM2720012 CHD7 c.2201_2203delCTC p.P737delP Deletion - In frame Large_intestine COSM3013770 PRDM9 c.383C>G p.S128C Substitution - Missense Breast COSM3148826 DNMT1 c.81-8C>T p.? Unknown Skin COSM3307159 HDAC9 c.1539delG p.D515fs*34 Deletion - Frameshift Large_intestine COSM3296124 MBD5 c.1248C>T p.H416H Substitution - coding silent Upper_aerodigestive_tract COSM3296246 EPC2 c.54T>C p.P18P Substitution - coding silent Upper_aerodigestive_tract COSM3399289 RNF17 c.1092T>C p.P364P Substitution - coding silent Central_nervous_system COSM3493338 BRDT c.2172C>T p.T724T Substitution - coding silent Skin COSM3415380 HELLS c.252G>A p.T84T Substitution - coding silent Large_intestine COSM3415832 RAG2 c.418C>A p.H140N Substitution - Missense Large_intestine COSM3450163 PHRF1 c.385T>G p.Y129D Substitution - Missense Skin COSM3635738 EZH2 c.1391G>A p.G464E Substitution - Missense Skin COSM3546378 CHD6 c.830C>T p.S277F Substitution - Missense Skin COSM3548778 DIDO1 c.5308A>G p.N1770D Substitution - Missense Skin COSM3511046 CTCF c.999C>T p.T333T Substitution - coding silent Skin COSM3662943 TIF1 c.1893G>A p.V631V Substitution - coding silent Biliary_tract COSM3656847 TAF1L c.3053C>T p.S1018F Substitution - Missense Skin COSM3676401 SETD1B c.2279T>G p.V760G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3708058 BRWD1 c.3209-4C>T p.? Unknown Liver COSM3722551 KMT2D c.6669G>T p.G2223G Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3720981 BPTF c.4194A>G p.K1398K Substitution - coding silent Upper_aerodigestive_tract COSM3737119 POGZ c.2319_2320delCT p.L775fs*4 Deletion - Frameshift Soft_tissue COSM3772483 DNMT1 c.3319G>T p.G1107* Substitution - Nonsense Pancreas COSM3939660 L3MBTL2 c.1915C>T p.R639* Substitution - Nonsense Stomach COSM3840728 ASXL1 c.1611A>T p.E537D Substitution - Missense Breast COSM3917050 PRDM5 c.1624G>A p.E542K Substitution - Missense Skin COSM3925536 NCOA2 c.4275C>T p.S1425S Substitution - coding silent Skin COSM3879567 KMT2C c.7106A>G p.N2369S Substitution - Missense Stomach COSM3973900 ATRX c.5786+2T>C p.? Unknown Central_nervous_system COSM4039473 KDM2B c.2228G>A p.R743H Substitution - Missense Stomach COSM4047969 PHF11 c.472C>T p.Q158* Substitution - Nonsense Stomach COSM4046340 ZMYM5 c.115G>T p.A39S Substitution - Missense Stomach COSM4097814 NCOA6 c.828G>A p.Q276Q Substitution - coding silent Oesophagus COSM4124021 WHSC1 c.3967T>C p.C1323R Substitution - Missense Stomach COSM4064173 NCOR1 c.483G>A p.S161S Substitution - coding silent Stomach COSM4160319 ARID1B c.4536G>T p.Q1512H Substitution - Missense Thyroid COSM41878 TET2 c.1147C>T p.Q383* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4383580 DNMT3A c.1239delC p.F414fs*237 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4387431 BAP1 c.422A>G p.H141R Substitution - Missense Eye COSM4601463 DMAP1 c.393+4A>G p.? Unknown Upper_aerodigestive_tract COSM4500696 SETBP1 c.571C>G p.L191V Substitution - Missense Skin COSM4436937 NCOA2 c.2524G>A p.D842N Substitution - Missense Oesophagus COSM4502116 CREBBP c.6052C>T p.P2018S Substitution - Missense Skin COSM4508578 ATF7IP c.780C>T p.S260S Substitution - coding silent Skin COSM4515224 SMCHD1 c.2282_2283CA>TT p.S761F Substitution - Missense Skin COSM4573844 TAF3 c.1584A>C p.E528D Substitution - Missense Bone COSM4471881 KMT2D c.1746C>T p.S582S Substitution - coding silent Skin COSM4482913 CREBBP c.2651C>T p.A884V Substitution - Missense Skin COSM4410866 KDM2B c.2805delT p.H936fs*4 Deletion - Frameshift Kidney COSM4666095 BRD3 c.564delC p.T189fs*54 Deletion - Frameshift Large_intestine COSM4694902 KDM2B c.1066T>C p.W356R Substitution - Missense Large_intestine COSM4728296 SMARCA4 c.4328G>A p.R1443H Substitution - Missense Large_intestine COSM4731943 TAF1 c.3089G>A p.R1030H Substitution - Missense Large_intestine COSM4664628 ATRX c.4380A>G p.E1460E Substitution - coding silent Large_intestine COSM4624742 NCOA1 c.280G>A p.V94I Substitution - Missense Large_intestine COSM4620755 KDM4B c.1490T>C p.M497T Substitution - Missense Large_intestine COSM4796745 BAZ2A c.2389G>A p.G797R Substitution - Missense Liver COSM4887061 BAHCC1 c.3492G>T p.E1164D Substitution - Missense Upper_aerodigestive_tract COSM4887244 PHC3 c.1769C>T p.T590I Substitution - Missense Upper_aerodigestive_tract COSM4879954 EED c.154C>T p.R52C Substitution - Missense Prostate COSM4836505 SETDB1 c.388G>A p.D130N Substitution - Missense Cervix COSM4833033 PRMT10 c.6G>A p.S2S Substitution - coding silent Cervix COSM4842111 PHF20L1 c.142G>C p.E48Q Substitution - Missense Cervix COSM4876198 KMT2D c.6436C>T p.Q2146* Substitution - Nonsense Prostate COSM4868173 CHD4 c.2437C>T p.R813C Substitution - Missense Endometrium COSM4846491 KMT2C c.9897G>A p.M3299I Substitution - Missense Cervix COSM4990209 HNF1A c.183C>T p.P61P Substitution - coding silent Skin COSM4991532 EP300 c.4212C>T p.F1404F Substitution - coding silent Skin COSM5026558 TDRD6 c.5839G>C p.E1947Q Substitution - Missense Breast COSM5054791 JMJD5 c.81G>A p.P27P Substitution - coding silent Stomach COSM5056037 SETBP1 c.2864C>T p.A955V Substitution - Missense Stomach COSM5061420 EYA4 c.1759C>T p.R587* Substitution - Nonsense Stomach COSM5364155 BAHCC1 c.7345G>A p.A2449T Substitution - Missense Large_intestine COSM5368983 KMT2D c.9391C>T p.Q3131* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5388755 MUM1 c.2121C>T p.N707N Substitution - coding silent Skin COSM5365199 SIRT6 c.307C>T p.R103C Substitution - Missense Large_intestine COSM5369848 IDH1 c.313G>C p.G105R Substitution - Missense Lung COSM5418983 CHD2 c.4231_4234delAAAG p.E1412fs*64 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5517473 MYST1 c.14G>C p.G5A Substitution - Missense Biliary_tract COSM5636452 MBD4 c.955T>C p.S319P Substitution - Missense Oesophagus COSM5632507 KMT2D c.8155G>T p.E2719* Substitution - Nonsense Oesophagus COSM5630796 PHIP c.2192G>C p.G731A Substitution - Missense Oesophagus COSM5740620 SRCAP c.1529A>G p.E510G Substitution - Missense Small_intestine COSM5609445 MSH6 c.1722A>G p.S574S Substitution - coding silent Skin COSM5607860 ARID1B c.4410C>T p.P1470P Substitution - coding silent Skin COSM5615814 KMT2C c.379delG p.A127fs*19 Deletion - Frameshift Lung COSM5618520 BRPF3 c.3598G>C p.V1200L Substitution - Missense Breast COSM5677474 KMT2C c.4034A>G p.K1345R Substitution - Missense Soft_tissue COSM5556790 BPTF c.2538T>C p.H846H Substitution - coding silent Prostate COSM5782528 HCFC1 c.4031G>T p.S1344I Substitution - Missense Breast COSM5787774 KMT2D c.15051T>C p.Y5017Y Substitution - coding silent Breast COSM5879023 TET2 c.3804-2A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5812167 MBD5 c.2401A>T p.M801L Substitution - Missense Liver COSM5885465 GTF3C1 c.5178C>T p.V1726V Substitution - coding silent Urinary_tract COSM5945965 BAP1 c.290T>C p.L97P Substitution - Missense Eye COSM5990324 EP400 c.3959A>C p.N1320T Substitution - Missense Liver COSM5968782 PRDM2 c.4348T>C p.C1450R Substitution - Missense Upper_aerodigestive_tract COSM1716798 TET2 c.? p.Q1540* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM52954 DNMT3A c.? p.R882P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4972320 ASXL1 c.? p.R625* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53310 IDH2 c.? p.R140L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96428 EP300 c.3143_3590del448 p.I1048fs*30 Deletion - Frameshift Pancreas COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM2996463 PRMT7 c.222C>T p.G74G Substitution - coding silent Large_intestine COSM419984 SETD2 c.3376C>T p.H1126Y Substitution - Missense Urinary_tract COSM1604908 MTA2 c.1493G>A p.R498Q Substitution - Missense Liver COSM3203687 MECOM c.834T>G p.L278L Substitution - coding silent Upper_aerodigestive_tract COSM909899 KDM4A c.2138C>T p.S713L Substitution - Missense Stomach COSM328646 DNMT3A c.2026C>T p.R676W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52857 PBRM1 c.3534-21delTTATATATTTTCCTCCCCAAG p.? Unknown Kidney COSM4761485 EP400 c.5626T>A p.S1876T Substitution - Missense Stomach COSM4098976 NCOA5 c.506G>A p.R169H Substitution - Missense Stomach COSM5446575 EP400 c.8181_8182insGCAGCA p.Q2727_Q2728insAA Insertion - In frame Thyroid COSM3416862 ARID2 c.587A>C p.D196A Substitution - Missense Large_intestine COSM1399858 EPC2 c.823T>C p.L275L Substitution - coding silent Large_intestine COSM5470955 DOT1L c.4838C>T p.A1613V Substitution - Missense Large_intestine COSM3545563 NCOA6 c.1893C>T p.S631S Substitution - coding silent Skin COSM4791276 TDRD6 c.5876T>C p.L1959P Substitution - Missense Liver COSM3931461 TRIM66 c.1476G>A p.Q492Q Substitution - coding silent Urinary_tract COSM3824001 SETD2 c.3700A>G p.S1234G Substitution - Missense Breast COSM146124 ZMYM3 c.3418C>G p.L1140V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4766083 ATRX c.? p.K626fs*23 Frameshift Central_nervous_system COSM3579848 ATAD2B_ENST00000238789 c.676G>T p.E226* Substitution - Nonsense Skin COSM1256219 L3MBTL4 c.1391A>T p.K464M Substitution - Missense Stomach COSM429983 EED c.619C>T p.L207L Substitution - coding silent Soft_tissue COSM84488 SMARCA4 c.3229C>T p.R1077* Substitution - Nonsense Central_nervous_system COSM936046 KDM2B c.393G>T p.K131N Substitution - Missense Endometrium COSM3845080 PHF8 c.2074C>A p.L692I Substitution - Missense Breast COSM4387252 ARID1B c.1528G>C p.G510R Substitution - Missense Lung COSM563406 ASXL3 c.2324G>T p.R775L Substitution - Missense Cervix COSM5124407 BAZ2A_ENST00000379441 c.1025G>A p.C342Y Substitution - Missense Large_intestine COSM1641346 CHD6 c.3148G>T p.V1050L Substitution - Missense Stomach COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM3994836 BAG6 c.1371T>A p.D457E Substitution - Missense Kidney COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM1179107 KMT2C c.851G>A p.R284Q Substitution - Missense Soft_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4513950 EYA1 c.956C>T p.S319F Substitution - Missense Skin COSM3487584 ARID1A c.3961C>T p.P1321S Substitution - Missense Skin COSM5981363 SETBP1 c.1254_1255insA p.R421fs*5 Insertion - Frameshift Upper_aerodigestive_tract COSM5487225 TAF1 c.2510A>T p.H837L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM2069241 RNF17 c.1049T>C p.M350T Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM4951497 KDM4A c.2375G>C p.R792T Substitution - Missense Liver COSM2889574 DNMT3B c.1539G>A p.A513A Substitution - coding silent Stomach COSM1610659 BPTF c.3062A>G p.D1021G Substitution - Missense Liver COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM373641 SP100 c.268G>A p.E90K Substitution - Missense Lung COSM1247403 CBX4 c.1289C>T p.A430V Substitution - Missense Oesophagus COSM1428809 ING2 c.445T>C p.S149P Substitution - Missense Large_intestine COSM4795580 ASH2L c.1585G>A p.A529T Substitution - Missense Liver COSM5565764 INOC1 c.1079G>A p.R360K Substitution - Missense Prostate COSM5716863 ORC1 c.396T>G p.L132L Substitution - coding silent Skin COSM4597323 CBX4 c.712A>C p.K238Q Substitution - Missense Upper_aerodigestive_tract COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM5631435 CHD4 c.3702A>T p.G1234G Substitution - coding silent Oesophagus COSM4775972 NIPBL c.2389C>T p.R797* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1169572 PBRM1 c.3030_3030delA p.K1011fs*3 Deletion - Frameshift Kidney COSM948227 TDRD3 c.506G>A p.R169Q Substitution - Missense Large_intestine COSM948227 TDRD3 c.506G>A p.R169Q Substitution - Missense Endometrium COSM4586388 JARID2 c.3465C>T p.N1155N Substitution - coding silent Bone COSM140918 ARID1A c.4439T>C p.M1480T Substitution - Missense Upper_aerodigestive_tract COSM4883980 SETD3 c.182G>A p.R61Q Substitution - Missense Upper_aerodigestive_tract COSM434996 GTF3C1 c.2359C>T p.L787L Substitution - coding silent Breast COSM1367546 TDRD3 c.1229T>C p.M410T Substitution - Missense Large_intestine COSM4002744 PBRM1 c.4335A>G p.P1445P Substitution - coding silent Soft_tissue COSM2995127 CTCF c.552_553insC p.Q186fs*5 Insertion - Frameshift Large_intestine COSM4622495 EP400 c.8491G>A p.A2831T Substitution - Missense Large_intestine COSM1333449 PRDM2 c.852T>A p.D284E Substitution - Missense Stomach COSM4521293 KDM4D c.1104G>A p.R368R Substitution - coding silent Skin COSM4532779 DNMT3B c.1918G>A p.G640S Substitution - Missense Skin COSM282811 KMT2A c.1601C>T p.S534L Substitution - Missense Large_intestine COSM907723 ARID1A c.4003C>T p.R1335* Substitution - Nonsense Endometrium COSM3523576 BAHCC1 c.402C>T p.F134F Substitution - coding silent Skin COSM5404687 JARID2 c.833C>T p.S278F Substitution - Missense Skin COSM5969364 PRDM16 c.784G>T p.E262* Substitution - Nonsense Upper_aerodigestive_tract COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Prostate COSM1625695 HCFC1 c.1745A>G p.N582S Substitution - Missense Liver COSM699671 SETD3 c.1512G>C p.E504D Substitution - Missense Lung COSM3523290 CHD3 c.3944C>T p.P1315L Substitution - Missense Skin COSM692224 EP400 c.5823C>A p.T1941T Substitution - coding silent Lung COSM4994825 PHF6 c.619G>T p.D207Y Substitution - Missense Large_intestine COSM3349899 PHF1 c.748C>T p.R250C Substitution - Missense Upper_aerodigestive_tract COSM3304135 KMT2C c.7414A>G p.S2472G Substitution - Missense Large_intestine COSM3726922 SETBP1 c.2342C>T p.T781I Substitution - Missense Skin COSM468456 KMT2D c.2805C>T p.I935I Substitution - coding silent Kidney COSM193124 TDRD3 c.1457G>A p.R486Q Substitution - Missense Large_intestine COSM3795988 BPTF c.6131G>A p.G2044E Substitution - Missense Urinary_tract COSM253318 TET2 c.? p.Q706* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5078277 ING2 c.521A>G p.D174G Substitution - Missense Large_intestine COSM308851 ACTL6B c.60C>A p.S20S Substitution - coding silent Lung COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Bone COSM85834 MEN1 c.817_818delCT p.L273fs*43 Deletion - Frameshift Pancreas COSM254635 CREBBP c.1258A>T p.K420* Substitution - Nonsense Urinary_tract COSM4717448 PRDM10 c.1637G>A p.R546H Substitution - Missense Large_intestine COSM268370 ARID2 c.4651G>A p.A1551T Substitution - Missense Large_intestine COSM4495408 SETD1B c.1177C>A p.Q393K Substitution - Missense Skin COSM3723184 PRDM11 c.780C>T p.S260S Substitution - coding silent Upper_aerodigestive_tract COSM5639581 ARID4A c.2620G>C p.G874R Substitution - Missense Oesophagus COSM2931086 DIDO1 c.5339C>T p.P1780L Substitution - Missense Skin COSM3589917 MECOM c.20C>T p.P7L Substitution - Missense Skin COSM924953 PRDM10 c.979G>A p.A327T Substitution - Missense Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1190677 KDM4A c.2308delG p.A770fs*2 Deletion - Frameshift Lung COSM252979 CLOCK c.368delT p.L123fs*1 Deletion - Frameshift Stomach COSM1730810 CHD8 c.5783G>C p.R1928P Substitution - Missense Liver COSM1615603 CHD6 c.603G>A p.R201R Substitution - coding silent Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5375338 SMARCD1 c.689G>C p.G230A Substitution - Missense Skin COSM2175486 HNF1A c.1336G>A p.V446M Substitution - Missense Large_intestine COSM5782530 JMJD1C c.4213T>C p.S1405P Substitution - Missense Breast COSM2720132 CHD7 c.6744C>T p.D2248D Substitution - coding silent Large_intestine COSM4469648 KAT2B c.1611C>T p.L537L Substitution - coding silent Skin COSM1681633 NCOA6 c.2707A>C p.N903H Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87263 IKZF1 c.1-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5665908 MBD5 c.4079G>T p.S1360I Substitution - Missense Soft_tissue COSM944181 AICDA c.286G>T p.D96Y Substitution - Missense Endometrium COSM941738 BAZ2A_ENST00000379441 c.4242C>A p.F1414L Substitution - Missense Endometrium COSM937158 EP400 c.3633C>T p.I1211I Substitution - coding silent Liver COSM999 SMARCB1 c.607G>A p.A203T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2874629 NCOA2 c.1881C>T p.D627D Substitution - coding silent Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM972469 CTCF c.433G>T p.E145* Substitution - Nonsense Endometrium COSM1611288 MBD2 c.1062A>G p.T354T Substitution - coding silent Liver COSM194440 CTCF c.1807C>T p.R603C Substitution - Missense Large_intestine COSM3845394 ATRX c.6649G>A p.D2217N Substitution - Missense Breast COSM3358535 PBRM1 c.1914delA p.K638fs*4 Deletion - Frameshift Kidney COSM41293 IDH1 c.? p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3363683 TCF20 c.792C>T p.Y264Y Substitution - coding silent Kidney COSM4170029 TET2 c.4621C>T p.Q1541* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3820339 BPTF c.6194G>C p.R2065T Substitution - Missense Stomach COSM5944961 DNMT3A c.1639C>T p.L547F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5675098 PHRF1 c.2479G>T p.E827* Substitution - Nonsense Soft_tissue COSM5187156 MTA1 c.905A>G p.K302R Substitution - Missense Large_intestine COSM4789805 DNMT3A c.312G>A p.G104G Substitution - coding silent Liver COSM5697318 EYA1 c.46A>G p.S16G Substitution - Missense Soft_tissue COSM3368237 KMT2A c.4958A>C p.N1653T Substitution - Missense Thyroid COSM4797467 HCFC1 c.2055C>A p.G685G Substitution - coding silent Liver COSM4384582 KMT2A c.455G>A p.G152D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1341426 ARID1A c.5542delG p.D1850fs*33 Deletion - Frameshift Stomach COSM4995140 KMT2D c.1898C>T p.S633L Substitution - Missense Upper_aerodigestive_tract COSM357076 KMT2C c.2935C>A p.Q979K Substitution - Missense Lung COSM223697 ARID4A c.1404+1G>A p.? Unknown Skin COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM262032 KMT2A c.1341G>A p.P447P Substitution - coding silent Large_intestine COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5009131 KMT2C c.4040G>T p.R1347I Substitution - Missense Large_intestine COSM4002034 PRDM15 c.3375C>T p.H1125H Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM211611 TET2 c.1489A>T p.T497S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM941726 BAZ2A_ENST00000379441 c.5086G>A p.G1696R Substitution - Missense Endometrium COSM5777704 SIRT7 c.1026A>T p.S342S Substitution - coding silent Breast COSM5670431 KDM4B c.1343C>G p.T448S Substitution - Missense Soft_tissue COSM1494861 ATAD2B_ENST00000238789 c.4226T>C p.V1409A Substitution - Missense Kidney COSM4468133 PHF19 c.1528C>T p.P510S Substitution - Missense Skin COSM3548780 DIDO1 c.4983C>T p.P1661P Substitution - coding silent Skin COSM384740 HNF1A c.1765A>T p.T589S Substitution - Missense Lung COSM22637 MEN1 c.44_59del16 p.S15fs*99 Deletion - Frameshift Parathyroid COSM1026077 NCOA6 c.3605C>T p.A1202V Substitution - Missense Endometrium COSM5944210 DNMT3A c.2276_2278delTGG p.V759delV Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM970552 CREBBP c.5344G>A p.A1782T Substitution - Missense Large_intestine COSM2001160 EP400 c.8378C>T p.P2793L Substitution - Missense Large_intestine COSM1085181 SND1 c.922G>A p.A308T Substitution - Missense Endometrium COSM2804926 BAHCC1 c.1350C>T p.G450G Substitution - coding silent Large_intestine COSM133567 ASXL1 c.1749G>A p.W583* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1675365 KAT6B c.3750A>C p.K1250N Substitution - Missense Large_intestine COSM4632487 NCOA2 c.1965G>A p.S655S Substitution - coding silent Large_intestine COSM467300 KDM2A c.2405C>T p.T802M Substitution - Missense Kidney COSM4506446 MGA c.7351C>T p.P2451S Substitution - Missense Skin COSM5757139 CHRAC1 c.112A>G p.N38D Substitution - Missense Large_intestine COSM4069629 ZBTB4 c.1304C>T p.P435L Substitution - Missense Skin COSM4529914 MSH6 c.1652G>A p.G551D Substitution - Missense Skin COSM4643394 FMR1 c.700A>G p.I234V Substitution - Missense Large_intestine COSM5788833 KMT2C c.14524G>C p.G4842R Substitution - Missense Breast COSM3365358 SETD2 c.2987G>A p.C996Y Substitution - Missense Kidney COSM3372054 SMARCA1 c.534G>C p.V178V Substitution - coding silent Thyroid COSM3618474 BRD9 c.1108C>T p.P370S Substitution - Missense Skin COSM115904 LBR c.281C>G p.A94G Substitution - Missense Ovary COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM42016 TET2 c.4393C>T p.R1465* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM121545 PHF8 c.2904C>T p.R968R Substitution - coding silent Upper_aerodigestive_tract COSM4990890 CREBBP c.1614A>G p.T538T Substitution - coding silent Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3461579 KMT2D c.5627C>T p.P1876L Substitution - Missense Skin COSM3993001 KAT2B c.2055C>T p.Y685Y Substitution - coding silent Kidney COSM1321326 ERCC6 c.423-1G>T p.? Unknown Ovary COSM1495644 PBRM1 c.125C>T p.P42L Substitution - Missense Kidney COSM5879038 TET2 c.4796_4797delCC p.S1599fs*14 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3624653 BAG6 c.1468C>T p.P490S Substitution - Missense Skin COSM2961748 MYST3 c.746C>T p.T249M Substitution - Missense Large_intestine COSM237311 DNMT1 c.4044G>A p.K1348K Substitution - coding silent Prostate COSM1605806 EP400 c.97A>C p.N33H Substitution - Missense Upper_aerodigestive_tract COSM972737 PRMT7 c.537C>T p.T179T Substitution - coding silent Endometrium COSM3403492 SMCHD1 c.2642G>A p.C881Y Substitution - Missense Central_nervous_system COSM5404403 EYA4 c.767C>T p.S256L Substitution - Missense Skin COSM3716292 KIAA2026_ENST00000399933 c.3452C>T p.S1151L Substitution - Missense Upper_aerodigestive_tract COSM121542 PHF20 c.1017C>T p.I339I Substitution - coding silent Upper_aerodigestive_tract COSM5021464 BRD9 c.983+9C>T p.? Unknown Large_intestine COSM4068909 BPTF c.2048G>A p.G683D Substitution - Missense Stomach COSM4657521 ELP3 c.1014G>C p.K338N Substitution - Missense Parathyroid COSM1166290 ACTL6B c.1157G>T p.R386L Substitution - Missense Large_intestine COSM993 SMARCB1 c.601C>T p.R201* Substitution - Nonsense Central_nervous_system COSM937184 EP400 c.7288G>T p.D2430Y Substitution - Missense Endometrium COSM5575924 KMT2D c.4903C>T p.Q1635* Substitution - Nonsense Stomach COSM239686 EHMT1 c.3558G>T p.Q1186H Substitution - Missense Prostate COSM5623152 NCOR1 c.1730G>C p.S577T Substitution - Missense Oesophagus COSM983311 BPTF c.2765A>G p.K922R Substitution - Missense Endometrium COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM96358 BAP1 c.2050C>T p.Q684* Substitution - Nonsense Kidney COSM42015 TET2 c.5647_5647delA p.T1883fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1583125 DNMT3A c.2553_2553delC p.F851fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM422743 BAP1 c.2134C>T p.Q712* Substitution - Nonsense Kidney COSM680077 PRDM16 c.333C>T p.G111G Substitution - coding silent Lung COSM5772369 L3MBTL4 c.400C>T p.P134S Substitution - Missense Breast COSM4818811 RTF1 c.13G>T p.A5S Substitution - Missense Cervix COSM3724687 HDAC9 c.1200G>A p.Q400Q Substitution - coding silent Biliary_tract COSM4549473 DIDO1 c.4739G>A p.R1580K Substitution - Missense Skin COSM4406882 ARID1B c.4578G>A p.P1526P Substitution - coding silent Soft_tissue COSM5472379 SMARCD3 c.1406A>G p.N469S Substitution - Missense Large_intestine COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Soft_tissue COSM1116464 FMR1 c.836T>C p.L279P Substitution - Missense Endometrium COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Soft_tissue COSM2996506 PRMT7 c.1828G>A p.A610T Substitution - Missense Cervix COSM4060283 SETD1A c.4037C>T p.A1346V Substitution - Missense Stomach COSM464496 ZMYM4 c.2681G>C p.S894T Substitution - Missense Kidney COSM5019273 PRDM1 c.2034G>A p.P678P Substitution - coding silent Soft_tissue COSM2229046 EP400 c.1412C>T p.A471V Substitution - Missense Stomach COSM1446050 PHIP c.3929G>A p.R1310H Substitution - Missense Large_intestine COSM3663963 TDRD7 c.613A>C p.R205R Substitution - coding silent Liver COSM1627080 KDM4A c.2363C>T p.A788V Substitution - Missense Liver COSM1742347 NIPBL c.4320+4A>G p.? Unknown Urinary_tract COSM241808 SUV39H1 c.875G>A p.R292H Substitution - Missense Prostate COSM3631918 PHF14 c.1654C>T p.R552* Substitution - Nonsense Skin COSM1177798 EP300 c.5195G>A p.R1732H Substitution - Missense Endometrium COSM266239 CHD6 c.956A>G p.Y319C Substitution - Missense Large_intestine COSM5599468 EP400 c.5622G>A p.L1874L Substitution - coding silent Skin COSM4440603 DIDO1 c.6101delC p.P2034fs*>207 Deletion - Frameshift Large_intestine COSM2178846 TTF2 c.3078A>C p.A1026A Substitution - coding silent Large_intestine COSM5713917 TAF1 c.4357G>A p.V1453M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1492754 PRDM4 c.2404T>A p.*802K Nonstop extension Kidney COSM203096 ATAD2 c.354delA p.E119fs*8 Deletion - Frameshift Large_intestine COSM5984104 JARID2 c.3740G>A p.*1247* Substitution - coding silent Upper_aerodigestive_tract COSM5563005 PHC3 c.2566C>T p.P856S Substitution - Missense Prostate COSM4641701 PRMT8 c.922G>A p.V308I Substitution - Missense Large_intestine COSM21471 HNF1A c.617G>T p.W206L Substitution - Missense Liver COSM3294915 ZMYND8 c.1691C>A p.P564H Substitution - Missense Large_intestine COSM4169528 TET2 c.? p.K389Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4970917 EPC2 c.2332_2336delGCCAT p.A778fs*>29 Deletion - Frameshift Central_nervous_system COSM4555651 AIRE c.663G>A p.K221K Substitution - coding silent Skin COSM2961742 MYST3 c.994A>G p.T332A Substitution - Missense Stomach COSM1030691 BRWD1 c.4297C>T p.R1433* Substitution - Nonsense Endometrium COSM961969 TP53BP1 c.5050C>T p.R1684C Substitution - Missense Endometrium COSM1746392 MTA2 c.221G>A p.G74E Substitution - Missense Urinary_tract COSM5813758 ATAD2B_ENST00000238789 c.3235A>T p.K1079* Substitution - Nonsense Liver COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3370396 SRCAP c.257G>A p.G86D Substitution - Missense Thyroid COSM144494 DNMT3A c.2284_2285insCCATGG p.G762>AMG Complex - insertion inframe Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM267971 ASXL1 c.2893C>T p.R965* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1009 SMARCB1 c.897G>A p.S299S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM289244 TDRKH c.442C>T p.R148C Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5021379 ZCWPW2 c.605T>A p.L202Q Substitution - Missense Bone COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5606600 GTF3C1 c.1566T>G p.V522V Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5991312 KMT2C c.7150C>G p.R2384G Substitution - Missense Prostate COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3691901 CBX4 c.1520C>T p.A507V Substitution - Missense Large_intestine COSM1228658 TBL1XR1 c.1339A>G p.S447G Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM255460 HDAC9 c.277C>A p.L93I Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM990758 SMARCA4 c.4090G>A p.E1364K Substitution - Missense Endometrium COSM1109459 KIAA2026_ENST00000399933 c.3182C>T p.P1061L Substitution - Missense Endometrium COSM4086887 ATF2 c.133C>A p.H45N Substitution - Missense Stomach COSM3959464 DNMT1 c.4124C>T p.P1375L Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5770888 BRD7 c.1339G>A p.E447K Substitution - Missense Breast COSM3424654 RBBP7 c.1100T>G p.F367C Substitution - Missense Large_intestine COSM1336716 TDRD5 c.1901delT p.L636fs*16 Deletion - Frameshift Biliary_tract COSM1965113 KAT6B c.2405delA p.N803fs*5 Deletion - Frameshift Large_intestine COSM5752724 CTCF c.1999+1G>T p.? Unknown Breast COSM1668243 TDRD5 c.1207G>T p.E403* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM447363 PHF17 c.1727C>G p.S576C Substitution - Missense Breast COSM3550709 BRWD1 c.3643G>C p.V1215L Substitution - Missense Skin COSM4944398 SETDB1 c.3340A>C p.T1114P Substitution - Missense Liver COSM137739 AIRE c.151G>A p.E51K Substitution - Missense Skin COSM687266 PRDM10 c.922T>C p.Y308H Substitution - Missense Lung COSM4443022 PRDM9 c.358C>T p.P120S Substitution - Missense Large_intestine COSM4170413 KMT2D c.11209C>T p.Q3737* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3253978 MLL5 c.4148C>G p.T1383R Substitution - Missense Large_intestine COSM4492781 SMARCA4 c.4034C>T p.S1345L Substitution - Missense Skin COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM5599298 CHD6 c.7853C>T p.S2618F Substitution - Missense Skin COSM3724842 ZMYND8 c.838C>G p.L280V Substitution - Missense Lung COSM3461201 HDAC7 c.338C>T p.P113L Substitution - Missense Skin COSM145101 AP001011.3_ENST00000320876 c.551A>G p.D184G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1470014 KDM5D c.3903G>A p.Q1301Q Substitution - coding silent Large_intestine COSM265555 ATAD2 c.2642_2643delTA p.L881fs*16 Deletion - Frameshift Large_intestine COSM1368701 MTA1 c.723C>T p.S241S Substitution - coding silent Large_intestine COSM3340999 NSD1 c.325A>T p.T109S Substitution - Missense Upper_aerodigestive_tract COSM5161103 MTA1 c.369-5T>C p.? Unknown Large_intestine COSM4640320 BRWD1 c.1743G>A p.Q581Q Substitution - coding silent Large_intestine COSM4507035 SRCAP c.7363C>T p.P2455S Substitution - Missense Skin COSM908648 ZMYM1 c.2895T>G p.I965M Substitution - Missense Endometrium COSM1250493 DNMT3A c.2066G>A p.S689N Substitution - Missense Oesophagus COSM30570 SMARCA4 c.2184_2206del23 p.Q729fs*4 Deletion - Frameshift Lung COSM4795695 TAF1L c.5217G>A p.G1739G Substitution - coding silent Liver COSM5977857 PRDM2 c.159_160insA p.F56fs*7 Insertion - Frameshift Upper_aerodigestive_tract COSM343275 RBBP5 c.389C>G p.S130C Substitution - Missense Lung COSM42070 TET2 c.5650A>G p.T1884A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM419976 SMARCC1 c.760G>A p.E254K Substitution - Missense Urinary_tract COSM1601930 KDM1A c.1874A>C p.E625A Substitution - Missense Liver COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM20649 TIF1 c.959T>C p.I320T Substitution - Missense Ovary COSM29495 SMARCB1 c.1145delC p.P383fs*4 Deletion - Frameshift Central_nervous_system COSM1100 SMARCB1 c.629-2A>G p.? Unknown Soft_tissue COSM87112 TET2 c.2896C>T p.Q966* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM96380 ASXL1 c.2407C>T p.Q803* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM133737 DNMT3A c.2207G>A p.R736H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM160333 DAXX c.452C>A p.T151N Substitution - Missense Breast COSM149376 SETD2 c.4376C>T p.P1459L Substitution - Missense Soft_tissue COSM147382 PRDM10 c.339T>C p.S113S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM165604 WHSC1L1 c.196C>G p.L66V Substitution - Missense Breast COSM190064 MSH6 c.2765G>A p.R922Q Substitution - Missense Endometrium COSM189824 SETD2 c.3439T>G p.F1147V Substitution - Missense Breast COSM230154 EYA1 c.580G>A p.G194R Substitution - Missense Skin COSM243175 BAZ1B c.3880G>A p.V1294I Substitution - Missense Prostate COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Central_nervous_system COSM231555 DNMT3A c.1598A>G p.Y533C Substitution - Missense Lung COSM251352 ARID1A c.315_334del20 p.N106fs*4 Deletion - Frameshift Liver COSM263781 SMCHD1 c.2125G>T p.D709Y Substitution - Missense Large_intestine COSM291739 INO80B c.63A>T p.G21G Substitution - coding silent Large_intestine COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Large_intestine COSM324793 KMT2C c.6371G>T p.R2124M Substitution - Missense Lung COSM365695 ZBTB4 c.2081G>A p.R694Q Substitution - Missense Lung COSM396944 CREBBP c.2499C>G p.L833L Substitution - coding silent Urinary_tract COSM459347 PHC1 c.2600G>A p.R867H Substitution - Missense Large_intestine COSM459435 BAZ2A c.4834C>T p.Q1612* Substitution - Nonsense Cervix COSM450526 EYA4 c.329C>T p.A110V Substitution - Missense Breast COSM976073 SMYD4 c.338C>T p.S113L Substitution - Missense Endometrium COSM972492 CTCF c.1464A>G p.S488S Substitution - coding silent Endometrium COSM983339 BPTF c.6046A>G p.T2016A Substitution - Missense Endometrium COSM1600787 VPS72 c.1067C>T p.A356V Substitution - Missense Liver COSM682726 BRDT c.555T>C p.S185S Substitution - coding silent Lung COSM937154 EP400 c.2994G>A p.S998S Substitution - coding silent Stomach COSM937183 EP400 c.7227G>A p.T2409T Substitution - coding silent Endometrium COSM1023490 KDM3A c.561C>A p.D187E Substitution - Missense Upper_aerodigestive_tract COSM939511 ARID2 c.4143T>G p.T1381T Substitution - coding silent Endometrium COSM720932 ATAD2B_ENST00000238789 c.976A>T p.R326W Substitution - Missense Lung COSM895817 POGZ c.2080C>T p.R694* Substitution - Nonsense Endometrium COSM1071557 CHD1 c.201C>A p.D67E Substitution - Missense Endometrium COSM1067083 PRDM9 c.1344T>C p.N448N Substitution - coding silent Endometrium COSM969940 SRCAP c.6789A>G p.E2263E Substitution - coding silent Endometrium COSM1107693 SMARCA2 c.1059C>T p.R353R Substitution - coding silent Endometrium COSM1093557 TRRAP c.780T>G p.I260M Substitution - Missense Endometrium COSM1093734 TRRAP c.11101C>T p.R3701* Substitution - Nonsense Endometrium COSM1106554 BRD3 c.981C>T p.H327H Substitution - coding silent Endometrium COSM1155720 ASXL1 c.3863G>A p.G1288D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1200996 CHD7 c.3988C>T p.R1330W Substitution - Missense Large_intestine COSM1183837 ASXL1 c.3743C>T p.A1248V Substitution - Missense Large_intestine COSM1162748 BRD9 c.928A>T p.M310L Substitution - Missense Upper_aerodigestive_tract COSM1235291 PHF6 c.409_418del10 p.N137fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1224801 SCMH1 c.353A>C p.N118T Substitution - Missense Large_intestine COSM1324135 RAI1 c.840G>A p.Q280Q Substitution - coding silent Thyroid COSM1320836 MTF2 c.818G>C p.C273S Substitution - Missense Ovary COSM1406731 ATAD2B_ENST00000238789 c.2303G>A p.R768H Substitution - Missense Large_intestine COSM1423627 SMARCC1 c.443A>T p.N148I Substitution - Missense Large_intestine COSM1412154 NCOA5 c.64C>T p.R22* Substitution - Nonsense Large_intestine COSM1443055 ATAT1 c.894delC p.P300fs*>24 Deletion - Frameshift Large_intestine COSM1365704 ZMYM5 c.990delA p.G331fs*14 Deletion - Frameshift Large_intestine COSM1512174 ARID2 c.820C>T p.R274* Substitution - Nonsense Biliary_tract COSM1614639 ING5 c.637C>A p.H213N Substitution - Missense Liver COSM1626105 TAF1 c.3224+8G>A p.? Unknown Liver COSM1622594 KMT2C c.11722C>A p.P3908T Substitution - Missense Liver COSM1638979 RSF1 c.1158delA p.K386fs*6 Deletion - Frameshift Stomach COSM1643055 BRPF3 c.3227C>A p.P1076H Substitution - Missense Stomach COSM1664528 TET2 c.4078C>A p.L1360M Substitution - Missense Kidney COSM1716101 SRCAP c.2645T>C p.L882P Substitution - Missense Small_intestine COSM1666300 PYGO1 c.449C>A p.P150Q Substitution - Missense Eye COSM1660104 ARID4A c.1997G>C p.R666P Substitution - Missense Kidney COSM1754203 NSD1 c.7503G>A p.P2501P Substitution - coding silent Urinary_tract COSM3013745 PRDM9 c.10G>T p.E4* Substitution - Nonsense Stomach COSM3237309 KDM3B c.2070A>G p.K690K Substitution - coding silent Large_intestine COSM3359465 MEN1 c.429C>T p.L143L Substitution - coding silent Kidney COSM3368691 KDM2B c.2714C>A p.T905N Substitution - Missense Thyroid COSM3370769 CBX1 c.544G>C p.D182H Substitution - Missense Thyroid COSM3504376 MORF4L1 c.881C>T p.S294F Substitution - Missense Skin COSM3432683 TDRD7 c.3261G>T p.M1087I Substitution - Missense Large_intestine COSM3439577 JMJD1C c.4410C>T p.N1470N Substitution - coding silent Skin COSM3454807 KDM4D c.806G>A p.G269E Substitution - Missense Skin COSM3455602 PRDM4 c.90A>C p.S30S Substitution - coding silent Skin COSM3474959 ASH1L c.6477C>T p.P2159P Substitution - coding silent Skin COSM3635746 EZH2 c.677C>T p.A226V Substitution - Missense Skin COSM3583860 SMYD1 c.291G>A p.G97G Substitution - coding silent Skin COSM3528395 CARM1 c.1382C>T p.S461F Substitution - Missense Skin COSM3531616 DOT1L c.4422C>T p.F1474F Substitution - coding silent Skin COSM3511047 CTCF c.1053C>T p.F351F Substitution - coding silent Skin COSM3691898 KDM6B c.1318C>T p.P440S Substitution - Missense Large_intestine COSM3710908 KMT2D c.9100C>T p.P3034S Substitution - Missense Upper_aerodigestive_tract COSM3747772 PHF2 c.2992A>C p.T998P Substitution - Missense Liver COSM3754331 TP53BP1 c.2487T>C p.D829D Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3749370 SETD6 c.193T>C p.L65L Substitution - coding silent Large_intestine COSM3816142 TP53BP1 c.616A>T p.R206W Substitution - Missense Breast COSM3840816 NCOA6 c.5384C>T p.P1795L Substitution - Missense Breast COSM3874533 TDRD6 c.3753T>G p.F1251L Substitution - Missense Stomach COSM3872540 APOBEC1 c.432G>A p.M144I Substitution - Missense Skin COSM3954826 KMT2D c.14517C>G p.C4839W Substitution - Missense Lung COSM4042359 KMT2D c.10201C>T p.P3401S Substitution - Missense Stomach COSM4085887 BAZ2B c.3301C>T p.R1101* Substitution - Nonsense Stomach COSM4080245 KDM4B c.317+2T>C p.? Unknown Stomach COSM4124007 WHSC1 c.3147C>T p.G1049G Substitution - coding silent Stomach COSM4060281 SETD1A c.3849G>A p.S1283S Substitution - coding silent Stomach COSM4060690 CREBBP c.7161C>T p.L2387L Substitution - coding silent Stomach COSM4072572 MBD2 c.1138C>T p.R380C Substitution - Missense Stomach COSM4385397 KDM6A c.4154A>G p.Q1385R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4383901 TET2 c.3344C>A p.P1115H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4385260 EP300 c.4585C>T p.R1529* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4599514 PHF1 c.322G>C p.E108Q Substitution - Missense Upper_aerodigestive_tract COSM4415236 DNMT1 c.931A>G p.I311V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4500774 AP001011.3_ENST00000320876 c.5737C>T p.R1913C Substitution - Missense Skin COSM4488958 CHD7 c.3406C>T p.P1136S Substitution - Missense Skin COSM4528513 MECOM c.977G>A p.G326E Substitution - Missense Skin COSM4480525 SND1 c.2428C>G p.R810G Substitution - Missense Skin COSM4411402 BRPF3 c.2653A>G p.K885E Substitution - Missense Kidney COSM4719553 PWWP2B c.988delC p.P331fs*5 Deletion - Frameshift Large_intestine COSM4766067 DNMT3A c.2521A>G p.K841E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4713938 PHF15 c.1163delA p.K389fs*2 Deletion - Frameshift Large_intestine COSM4643675 EP400 c.6784G>T p.A2262S Substitution - Missense Large_intestine COSM4629462 TCF20 c.794A>G p.N265S Substitution - Missense Large_intestine COSM4772368 PRDM14 c.869C>T p.A290V Substitution - Missense Stomach COSM4775970 MBD5 c.3290G>T p.S1097I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4751592 ARID1A c.1197C>G p.N399K Substitution - Missense Stomach COSM4793506 KDM1A c.240C>T p.S80S Substitution - coding silent Liver COSM4802669 ARID1B c.6584C>A p.S2195* Substitution - Nonsense Liver COSM4798636 SMARCA5 c.1315G>A p.G439S Substitution - Missense Liver COSM4928976 JHDM1D c.1819G>A p.E607K Substitution - Missense Liver COSM4833752 EP300 c.2855C>G p.S952* Substitution - Nonsense Cervix COSM4842960 KAT6B c.5841C>T p.S1947S Substitution - coding silent Cervix COSM4961310 ZMYND8 c.2898G>A p.M966I Substitution - Missense Liver COSM4998460 KIAA2026_ENST00000399933 c.4349C>T p.P1450L Substitution - Missense Pancreas COSM5030926 DHX30 c.229G>C p.V77L Substitution - Missense Eye COSM5030974 TET2 c.1568_1569insTCTT p.E524fs*44 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5019942 SETBP1 c.4000+10T>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5063887 TAF1L c.1986C>A p.I662I Substitution - coding silent Stomach COSM5053183 ACTA1 c.438C>A p.A146A Substitution - coding silent Stomach COSM5399793 SFMBT1 c.1437C>T p.V479V Substitution - coding silent Skin COSM5388126 SETBP1 c.1700C>T p.S567F Substitution - Missense Skin COSM5384603 JMJD5 c.1086G>A p.Q362Q Substitution - coding silent Skin COSM5354982 SETD2 c.4771delA p.R1591fs*53 Deletion - Frameshift Large_intestine COSM5510984 DOT1L c.2490G>A p.P830P Substitution - coding silent Biliary_tract COSM5490632 KMT2A c.5549-1G>A p.? Unknown Biliary_tract COSM5655796 CHD9 c.3861G>A p.Q1287Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5747938 MBD2 c.1189G>A p.D397N Substitution - Missense Pancreas COSM5729119 MBD4 c.540C>T p.T180T Substitution - coding silent Skin COSM5681679 GTF3C1 c.3360_3365delTTCCAG p.S1121_S1122delSS Deletion - In frame Soft_tissue COSM5673888 BRWD3 c.3673A>T p.S1225C Substitution - Missense Soft_tissue COSM5680262 KDM4C c.2531C>A p.A844D Substitution - Missense Soft_tissue COSM5553910 KAT5 c.309C>T p.F103F Substitution - coding silent Prostate COSM5790765 CHD4 c.2694G>T p.L898L Substitution - coding silent Breast COSM5879669 ASXL1 c.2366delG p.C789fs*29 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5906810 HDAC9 c.877G>A p.E293K Substitution - Missense Skin COSM5938320 MBD6 c.2798G>A p.G933E Substitution - Missense Skin COSM5894071 CHD6 c.7360C>T p.P2454S Substitution - Missense Skin COSM144643 ASXL1 c.? p.A637fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1133045 PHF6 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM86967 IKZF1 c.? p.H224fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM41896 TET2 c.? p.Q417* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM273743 MBD5 c.3344_3345insC p.I1117fs*16 Insertion - Frameshift Large_intestine COSM242343 ZMYM1 c.3190C>G p.P1064A Substitution - Missense Prostate COSM3423653 CHD6 c.651G>T p.T217T Substitution - coding silent Large_intestine COSM386187 TDRD5 c.2435C>A p.P812Q Substitution - Missense Lung COSM5047636 PHF3 c.5813A>T p.E1938V Substitution - Missense Oesophagus COSM5398639 PHC3 c.1404G>A p.Q468Q Substitution - coding silent Skin COSM4752071 SETD1A c.2162C>T p.P721L Substitution - Missense Stomach COSM4092792 HDAC4 c.895G>A p.G299R Substitution - Missense Stomach COSM1060891 PHF15 c.831C>G p.S277R Substitution - Missense Endometrium COSM3865354 PHC2 c.1909C>T p.P637S Substitution - Missense Skin COSM1007220 MBD5 c.1457T>C p.I486T Substitution - Missense Endometrium COSM52887 PBRM1 c.1823_1826delATAA p.Y608fs*33 Deletion - Frameshift Kidney COSM4384744 KMT2D c.3185C>T p.S1062F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5757752 ATRX c.3145delA p.I1049fs*1 Deletion - Frameshift Bone COSM463105 ASH1L c.8119A>G p.K2707E Substitution - Missense Kidney COSM479507 ZBTB38 c.474C>T p.I158I Substitution - coding silent Kidney COSM5658996 ASH1L c.6959G>A p.R2320K Substitution - Missense Soft_tissue COSM51235 ARID1A c.1873C>T p.Q625* Substitution - Nonsense Ovary COSM1341912 PHC2 c.115C>T p.R39C Substitution - Missense Large_intestine COSM231566 DNMT3A c.2171A>G p.Y724C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716880 EZH2 c.837C>G p.H279Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41644 TET2 c.1648C>T p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1257400 MBD4 c.1483G>C p.D495H Substitution - Missense Pancreas COSM3408413 MECOM c.69C>T p.C23C Substitution - coding silent Central_nervous_system COSM87011 DNMT3A c.2141C>G p.S714C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM69800 BAZ2B c.1687G>A p.G563R Substitution - Missense Ovary COSM2225863 SETD8 c.980C>T p.A327V Substitution - Missense Breast COSM5913002 BTAF1 c.1756-8C>T p.? Unknown Skin COSM211643 TET2 c.3782G>A p.R1261H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3108933 GTF3C1 c.1366G>A p.V456M Substitution - Missense Large_intestine COSM1026849 CHD6 c.6472G>A p.A2158T Substitution - Missense Endometrium COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144542 TET2 c.3214_3215insG p.A1072fs*4 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1355070 PHRF1 c.1935G>A p.A645A Substitution - coding silent Large_intestine COSM3378089 SMYD4 c.659C>T p.A220V Substitution - Missense Pancreas COSM4767421 ARID1B c.5368C>T p.R1790C Substitution - Missense Biliary_tract COSM723118 ASXL1 c.3351C>T p.P1117P Substitution - coding silent Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM972471 CTCF c.535G>T p.E179* Substitution - Nonsense Endometrium COSM4060188 SRCAP c.1862A>G p.Y621C Substitution - Missense Stomach COSM971038 GLYR1 c.1626C>T p.N542N Substitution - coding silent Endometrium COSM1192947 ZMYM4 c.597_598insT p.D200fs*1 Insertion - Frameshift Lung COSM2808580 AP001011.3_ENST00000320876 c.2940C>A p.V980V Substitution - coding silent Bone COSM4818694 CTCF c.836C>T p.S279L Substitution - Missense Cervix COSM423996 TDRD10 c.687C>A p.T229T Substitution - coding silent Breast COSM1450079 STK31 c.1486A>T p.K496* Substitution - Nonsense Large_intestine COSM1081862 PHIP c.2926G>A p.E976K Substitution - Missense Endometrium COSM710753 DOT1L c.2211G>T p.Q737H Substitution - Missense Lung COSM4585419 BRD8 c.1005A>G p.Q335Q Substitution - coding silent Bone COSM4165382 TDRD1 c.1099A>T p.R367W Substitution - Missense Kidney COSM358016 PRDM9 c.174T>A p.Y58* Substitution - Nonsense Lung COSM1462649 KIAA2026_ENST00000399933 c.2391G>T p.W797C Substitution - Missense Large_intestine COSM4951017 SND1 c.1175C>A p.P392H Substitution - Missense Liver COSM4119135 PBRM1 c.4135C>T p.R1379W Substitution - Missense Stomach COSM5787678 HDAC6 c.1847C>T p.A616V Substitution - Missense Breast COSM1186277 DHX30 c.1439G>A p.R480Q Substitution - Missense Lung COSM1756125 TAF1L c.118A>G p.I40V Substitution - Missense Urinary_tract COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5567239 JMJD6 c.325T>C p.S109P Substitution - Missense Prostate COSM1067094 PRDM9 c.2496T>C p.Y832Y Substitution - coding silent Urinary_tract COSM3594795 SMARCC1 c.1310T>G p.L437R Substitution - Missense Skin COSM1425903 MINA c.809A>G p.D270G Substitution - Missense Large_intestine COSM3987568 CHD8 c.5447A>T p.E1816V Substitution - Missense Kidney COSM4654573 ATRX c.1225T>C p.L409L Substitution - coding silent Large_intestine COSM4591233 NCOR1 c.534G>C p.K178N Substitution - Missense Upper_aerodigestive_tract COSM3523301 CHD3 c.4148A>G p.Q1383R Substitution - Missense Skin COSM442940 CAMKMT c.770C>T p.A257V Substitution - Missense Breast COSM4653025 SMARCA4 c.3998G>A p.R1333Q Substitution - Missense Stomach COSM3750192 PHF2 c.2964G>T p.P988P Substitution - coding silent Lung COSM3803006 TDRD5 c.860C>T p.A287V Substitution - Missense Breast COSM41734 TET2 c.3119T>G p.L1040* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1640468 MYST1 c.517-5T>C p.? Unknown Stomach COSM4665052 BAHCC1 c.5293C>T p.R1765C Substitution - Missense Large_intestine COSM1363345 MBD6 c.2074delC p.Q694fs*5 Deletion - Frameshift Large_intestine COSM3420710 IDH2 c.1261G>A p.G421S Substitution - Missense Large_intestine COSM907723 ARID1A c.4003C>T p.R1335* Substitution - Nonsense Endometrium COSM422496 TAF1 c.2462G>A p.R821Q Substitution - Missense Urinary_tract COSM51239 ARID1A c.1341T>G p.Y447* Substitution - Nonsense Ovary COSM4551040 RAG2 c.516G>A p.W172* Substitution - Nonsense Skin COSM1642923 JARID2 c.412delC p.P139fs*168 Deletion - Frameshift Large_intestine COSM3237368 KDM3B c.5160C>T p.F1720F Substitution - coding silent Skin COSM1318014 ARID2 c.193G>T p.E65* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM221024 PRDM15 c.2179C>G p.L727V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM359759 EP300 c.3124G>A p.G1042R Substitution - Missense Lung COSM2772262 TAF1L c.1788A>T p.Q596H Substitution - Missense Stomach COSM3935379 PRDM10 c.3375C>A p.D1125E Substitution - Missense Oesophagus COSM3510231 CHD9 c.3378A>T p.G1126G Substitution - coding silent Skin COSM3696682 CLOCK c.1926G>A p.G642G Substitution - coding silent Large_intestine COSM3294828 ZMYND8 c.2975C>T p.A992V Substitution - Missense Large_intestine COSM3474702 TDRD10 c.996G>A p.G332G Substitution - coding silent Skin COSM5783268 CHD7 c.3778+9G>T p.? Unknown Breast COSM1334940 HDGF c.149delT p.F50fs*105 Deletion - Frameshift Large_intestine COSM4400687 SCML2 c.494C>T p.P165L Substitution - Missense Skin COSM5995790 NIPBL c.2261G>A p.R754Q Substitution - Missense Prostate COSM3934410 RBBP5 c.1195C>G p.L399V Substitution - Missense Oesophagus COSM4646217 POLE3 c.119C>T p.A40V Substitution - Missense Large_intestine COSM690309 SUV420H1 c.181G>C p.E61Q Substitution - Missense Lung COSM4399810 TRIM28 c.1842A>G p.P614P Substitution - coding silent Skin COSM487370 TAF1L c.4734G>C p.K1578N Substitution - Missense Kidney COSM983305 BPTF c.2427G>T p.K809N Substitution - Missense Endometrium COSM4902159 PRDM2 c.2967C>T p.L989L Substitution - coding silent Skin COSM1433372 KDM3B c.1489G>A p.A497T Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5355158 SETD2 c.5946C>A p.C1982* Substitution - Nonsense Large_intestine COSM4663932 ATAD2B_ENST00000238789 c.2761C>T p.R921* Substitution - Nonsense Large_intestine COSM1426603 PRDM5 c.740C>T p.S247L Substitution - Missense Lung COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM110673 TDRD6 c.4558_4559insA p.M1520fs*13 Insertion - Frameshift Skin COSM4461536 KMT2C c.12103C>T p.P4035S Substitution - Missense Skin COSM1051390 SETD7 c.959G>A p.R320H Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4394220 ARID1B c.1950C>T p.S650S Substitution - coding silent Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3739846 CHD4 c.3280G>A p.E1094K Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3523577 BAHCC1 c.604C>T p.R202W Substitution - Missense Skin COSM4465885 KAT2A c.1404C>T p.D468D Substitution - coding silent Skin COSM5650988 EYA4 c.1626C>G p.C542W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM22622 MEN1 c.620delG p.G208fs*16 Deletion - Frameshift Small_intestine COSM4950261 ZMYM3 c.634_635insG p.S213fs*2 Insertion - Frameshift Liver COSM221130 KMT2D c.682C>G p.R228G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1469604 BRWD3 c.985+2T>C p.? Unknown Large_intestine COSM213586 GTF3C1 c.1509C>G p.N503K Substitution - Missense Breast COSM444189 DIDO1 c.3345+1G>C p.? Unknown Breast COSM5410886 PSIP1 c.63G>A p.W21* Substitution - Nonsense Skin COSM4387457 BAP1 c.581-5_590del15 p.? Unknown Eye COSM5749818 MBD5 c.589G>C p.V197L Substitution - Missense Genital_tract COSM84765 EP300 c.3671+1G>A p.? Unknown Cervix COSM3262574 KMT2C c.10251G>A p.Q3417Q Substitution - coding silent Liver COSM4852329 KDM2B c.2866G>A p.E956K Substitution - Missense Cervix COSM480373 PBRM1 c.2068A>T p.R690* Substitution - Nonsense Kidney COSM5576168 MBD1 c.1054C>T p.R352C Substitution - Missense Stomach COSM51983 BAP1 c.759_759delG p.T254fs*3 Deletion - Frameshift Eye COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM488470 SMC1A c.2463G>A p.L821L Substitution - coding silent Kidney COSM4412184 UHRF1 c.271G>A p.V91M Substitution - Missense Oesophagus COSM5711317 KIAA2026_ENST00000399933 c.794G>T p.R265M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4675728 CXXC1 c.362G>A p.R121Q Substitution - Missense Large_intestine COSM2698484 MYST2 c.1081C>T p.R361W Substitution - Missense Large_intestine COSM53152 TET2 c.? p.E576* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4732672 TCF20 c.1874A>C p.K625T Substitution - Missense Large_intestine COSM4169900 TET2 c.2441delG p.R814fs*10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM275627 KAT2B c.1594G>T p.E532* Substitution - Nonsense Endometrium COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1462677 UHRF2 c.1879C>T p.R627W Substitution - Missense Stomach COSM4642140 AKAP1 c.1346A>G p.D449G Substitution - Missense Large_intestine COSM3963496 NCOA6 c.3355C>T p.Q1119* Substitution - Nonsense Lung COSM3801565 PRDM2 c.4739G>A p.R1580K Substitution - Missense Breast COSM5719423 TDRD5 c.2007C>T p.F669F Substitution - coding silent Skin COSM1685369 SETBP1 c.? p.D868G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1214801 MECOM c.928G>A p.G310S Substitution - Missense Central_nervous_system COSM1658798 CREBBP c.4051delC p.H1351fs*25 Deletion - Frameshift Salivary_gland COSM1302028 FTO c.1481C>T p.S494L Substitution - Missense Urinary_tract COSM4393492 SRCAP c.99C>T p.A33A Substitution - coding silent Prostate COSM5954899 GTF3C4 c.761C>T p.S254L Substitution - Missense Upper_aerodigestive_tract COSM1737877 ASXL1 c.1859_1859delG p.R620fs*83 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM42016 TET2 c.4393C>T p.R1465* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28778 KDM6A c.1621C>T p.Q541* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1045423 SETD2 c.5975A>C p.K1992T Substitution - Missense Endometrium COSM4964310 EPC1 c.1756G>A p.E586K Substitution - Missense Pancreas COSM4833584 TTF2 c.712G>A p.E238K Substitution - Missense Cervix COSM1235377 ARID1A c.4993+93C>G p.? Unknown Breast COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1979953 PHF21A c.492T>C p.S164S Substitution - coding silent Upper_aerodigestive_tract COSM13839 ATRX c.4192G>A p.D1398N Substitution - Missense Skin COSM1445554 PHF3 c.4062G>A p.Q1354Q Substitution - coding silent Large_intestine COSM5384766 SETD1A c.1846C>T p.P616S Substitution - Missense Biliary_tract COSM4080524 KDM4B c.2652C>T p.H884H Substitution - coding silent Stomach COSM3665108 IDH2 c.81A>T p.T27T Substitution - coding silent Oesophagus COSM1659171 ASH1L c.6547A>T p.M2183L Substitution - Missense Kidney COSM3624637 BAG6 c.3308G>A p.R1103Q Substitution - Missense Skin COSM4145680 RAG2 c.221A>C p.Y74S Substitution - Missense Thyroid COSM1622254 ING3 c.557-4A>G p.? Unknown Liver COSM3841481 DIDO1 c.365G>C p.R122T Substitution - Missense Breast COSM5021464 BRD9 c.983+9C>T p.? Unknown Bone COSM3710910 KMT2D c.7417C>T p.Q2473* Substitution - Nonsense Upper_aerodigestive_tract COSM3720930 ATRX c.2101C>T p.R701C Substitution - Missense Upper_aerodigestive_tract COSM5831485 JMJD1C c.4656_4657insAT p.G1553fs*14 Insertion - Frameshift Breast COSM4052972 SMEK1 c.1492C>T p.L498F Substitution - Missense Stomach COSM77057 ZBTB38 c.3323C>A p.T1108N Substitution - Missense Ovary COSM729709 FXR1 c.569G>T p.R190L Substitution - Missense Lung COSM6001941 CREBBP c.3299C>T p.A1100V Substitution - Missense Prostate COSM3322587 PHF19 c.1489C>T p.R497C Substitution - Missense Large_intestine COSM4587025 MLL5 c.194A>G p.N65S Substitution - Missense Bone COSM4610649 UTY c.1178T>G p.F393C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM1266238 SMARCA4 c.3575G>A p.R1192H Substitution - Missense Liver COSM1230119 TP53BP1 c.2044G>T p.E682* Substitution - Nonsense Large_intestine COSM5878982 TET2 c.2565delA p.G856fs*17 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM4952773 FMR1 c.1822G>T p.G608C Substitution - Missense Liver COSM5662599 ASH1L c.3787G>T p.D1263Y Substitution - Missense Soft_tissue COSM231563 DNMT3A c.2311C>T p.R771* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM453347 BAZ1B c.146T>A p.I49N Substitution - Missense Breast COSM1292610 ATAD2 c.2849A>G p.K950R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1461717 SMARCA2 c.2234G>A p.G745E Substitution - Missense Large_intestine COSM4998124 SETD2 c.1096G>T p.D366Y Substitution - Missense Pancreas COSM5720885 HDAC9 c.1162G>A p.G388R Substitution - Missense Skin COSM1239299 L3MBTL2 c.1246A>G p.K416E Substitution - Missense Oesophagus COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Soft_tissue COSM149231 PRDM15 c.891+4C>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41877 IDH2 c.418C>T p.R140W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3103121 DOT1L c.299C>T p.T100M Substitution - Missense Large_intestine COSM3710009 KMT2A c.8683G>T p.E2895* Substitution - Nonsense Upper_aerodigestive_tract COSM1254842 INOC1 c.959G>A p.R320Q Substitution - Missense Stomach COSM5770742 L3MBTL4 c.821A>T p.Y274F Substitution - Missense Breast COSM940004 KMT2D c.11855T>C p.L3952P Substitution - Missense Endometrium COSM1050502 PRDM5 c.1184A>C p.K395T Substitution - Missense Endometrium COSM1726402 CHD6 c.6835A>G p.R2279G Substitution - Missense Liver COSM421000 ARID1B c.3209C>T p.S1070L Substitution - Missense Urinary_tract COSM1047213 SFMBT1 c.2041C>T p.R681C Substitution - Missense Endometrium COSM5642704 KMT2A c.11744C>G p.S3915C Substitution - Missense Oesophagus COSM5707555 BRWD1 c.1395+1G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM213599 KDM1B c.466G>A p.E156K Substitution - Missense Skin COSM1132501 KIAA1045 c.223G>A p.G75S Substitution - Missense Prostate COSM1196537 ATAD2B_ENST00000238789 c.1633A>G p.I545V Substitution - Missense Lung COSM166018 CTCF c.612_613delAA p.K205fs*24 Deletion - Frameshift Breast COSM3989118 MYST2 c.163G>A p.D55N Substitution - Missense Kidney COSM216444 LMNB2 c.1571C>T p.S524L Substitution - Missense Pancreas COSM2911501 NCOA1 c.4164A>G p.Q1388Q Substitution - coding silent Upper_aerodigestive_tract COSM1746392 MTA2 c.221G>A p.G74E Substitution - Missense Urinary_tract COSM4431288 PRDM2 c.494C>A p.S165Y Substitution - Missense Oesophagus COSM381731 TTF2 c.2161G>T p.G721C Substitution - Missense Lung COSM226602 BAZ1B c.1654G>A p.E552K Substitution - Missense Skin COSM5567499 SMCHD1 c.3244T>C p.S1082P Substitution - Missense Prostate COSM4604252 KMT2D c.1306G>T p.E436* Substitution - Nonsense Upper_aerodigestive_tract COSM4188891 PBRM1 c.3303delT p.F1101fs*58 Deletion - Frameshift Kidney COSM228090 EYA4 c.16G>A p.D6N Substitution - Missense Skin COSM394599 KAT6B c.2022A>T p.Q674H Substitution - Missense Lung COSM4391851 ZMYND8 c.2312C>T p.T771M Substitution - Missense Prostate COSM4466903 PHF15 c.145C>T p.P49S Substitution - Missense Skin COSM1560085 TRIM33 c.2900A>G p.E967G Substitution - Missense Large_intestine COSM3714618 BRPF1 c.3096C>A p.G1032G Substitution - coding silent Upper_aerodigestive_tract COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5361536 KMT2D c.3548G>A p.C1183Y Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1008139 BAZ2B c.6416T>G p.F2139C Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM357514 MTA1 c.772C>T p.L258F Substitution - Missense Lung COSM4647189 ERCC6 c.4384C>T p.Q1462* Substitution - Nonsense Large_intestine COSM989 SMARCB1 c.1130G>A p.R377H Substitution - Missense Meninges COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1258847 NCOR1 c.1008C>G p.S336R Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1330417 ZCWPW1 c.631+1G>A p.? Unknown Ovary COSM4576244 SETDB1 c.3510A>G p.K1170K Substitution - coding silent Liver COSM5409825 NCOA2 c.2209C>T p.P737S Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM683492 PCGF6 c.822G>C p.K274N Substitution - Missense Lung COSM1386348 ZBTB4 c.11delC p.P4fs*4 Deletion - Frameshift Large_intestine COSM5673566 CHD3 c.1088C>T p.P363L Substitution - Missense Soft_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5063276 CHD7 c.3490C>T p.Q1164* Substitution - Nonsense Stomach COSM4984170 MPHOSPH8 c.1564G>A p.D522N Substitution - Missense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM278971 ARID2 c.940C>T p.R314C Substitution - Missense Skin COSM3779981 KIAA1045 c.191G>A p.G64E Substitution - Missense Urinary_tract COSM26905 INOC1 c.3498-1G>A p.? Unknown Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3841463 DIDO1 c.4152A>G p.P1384P Substitution - coding silent Breast COSM3983286 SMYD4 c.1838C>A p.P613H Substitution - Missense Ovary COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1109476 KIAA2026_ENST00000399933 c.1720C>T p.R574C Substitution - Missense Large_intestine COSM5422318 ARID1B c.3375G>A p.K1125K Substitution - coding silent Prostate COSM1620895 L3MBTL3 c.450-8C>A p.? Unknown Liver COSM37032 EZH2 c.1937A>G p.Y646C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4825337 SMARCB1 c.740C>G p.S247C Substitution - Missense Cervix COSM4034375 PHRF1 c.916T>A p.S306T Substitution - Missense Stomach COSM43437 TET2 c.822_822delC p.N275fs*18 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM370194 TDRD6 c.830A>T p.H277L Substitution - Missense Lung COSM1015786 TET2 c.73T>C p.C25R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3937518 BPTF c.5870C>T p.S1957L Substitution - Missense Oesophagus COSM2022712 MGMT c.459A>T p.G153G Substitution - coding silent Large_intestine COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM3800739 ZMYM3 c.2827G>A p.E943K Substitution - Missense Urinary_tract COSM1483943 BRWD1 c.5392T>A p.S1798T Substitution - Missense Breast COSM274171 BRWD1 c.305C>A p.S102Y Substitution - Missense Large_intestine COSM110751 TET2 c.3735C>A p.Y1245* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4663989 ATF7IP c.2652_2653delCA p.T885fs*14 Deletion - Frameshift Large_intestine COSM98343 TDRD3 c.688C>G p.L230V Substitution - Missense Upper_aerodigestive_tract COSM4164137 PHF2 c.1032G>T p.M344I Substitution - Missense Thyroid COSM422744 BAP1 c.2188T>G p.*730G Nonstop extension Kidney COSM1734697 SMARCC1 c.402-3delT p.? Unknown Prostate COSM4595500 KMT2D c.13631C>T p.S4544F Substitution - Missense Upper_aerodigestive_tract COSM4559271 SRCAP c.7996G>A p.E2666K Substitution - Missense Skin COSM5627026 POGZ c.2571-2A>T p.? Unknown Oesophagus COSM1226752 SMARCA2 c.3962C>T p.T1321M Substitution - Missense Large_intestine COSM5929752 NCOR1 c.6943T>A p.S2315T Substitution - Missense Skin COSM1440253 NCOA7 c.201_202insA p.R71fs*4 Insertion - Frameshift Large_intestine COSM5516971 AKAP1 c.2396A>G p.Y799C Substitution - Missense Biliary_tract COSM4410851 SUV39H2 c.634delA p.R213fs*2 Deletion - Frameshift Kidney COSM1955353 EPC1 c.33A>G p.L11L Substitution - coding silent Upper_aerodigestive_tract COSM3916908 TET2 c.1173C>T p.S391S Substitution - coding silent Skin COSM5025509 SMYD2 c.409+1G>A p.? Unknown Breast COSM24692 HNF1A c.787C>T p.R263C Substitution - Missense Liver COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM25628 KMT2A c.6508C>T p.P2170S Substitution - Missense Skin COSM30569 SMARCA4 c.3166G>T p.E1056* Substitution - Nonsense Lung COSM23023 MEN1 c.1482_1483insC p.K496fs*35 Insertion - Frameshift Parathyroid COSM28805 KDM6A c.226_384del159 p.? Unknown Haematopoietic_and_lymphoid_tissue COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43440 TET2 c.1061C>G p.S354* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51389 ASXL1 c.2535_2535delC p.S846fs*21 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM120949 KMT2D c.15490G>A p.E5164K Substitution - Missense Upper_aerodigestive_tract COSM148010 CREBBP c.2784G>A p.P928P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM172449 RUVBL1 c.1291G>A p.E431K Substitution - Missense Large_intestine COSM212182 KAT6B c.3761G>A p.R1254H Substitution - Missense Stomach COSM220685 KMT2D c.7249C>T p.R2417* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM265522 BPTF c.8208T>G p.T2736T Substitution - coding silent Large_intestine COSM300388 TDRD10 c.427G>A p.A143T Substitution - Missense Large_intestine COSM292254 DNMT1 c.2553C>T p.P851P Substitution - coding silent Large_intestine COSM324727 APOBEC1 c.278G>A p.C93Y Substitution - Missense Lung COSM337449 CREBBP c.3147T>C p.D1049D Substitution - coding silent Lung COSM348308 BTAF1 c.4555G>C p.D1519H Substitution - Missense Lung COSM1496424 PHIP c.695C>G p.A232G Substitution - Missense Kidney COSM422823 PBRM1 c.3732C>A p.C1244* Substitution - Nonsense Kidney COSM429737 SUV420H1 c.764C>T p.S255F Substitution - Missense Breast COSM434568 CHD2 c.3077T>G p.F1026C Substitution - Missense Breast COSM473418 JMJD6 c.559C>A p.H187N Substitution - Missense Kidney COSM693712 KMT2D c.13900C>T p.R4634* Substitution - Nonsense Soft_tissue COSM1017613 SP140_ENST00000392045 c.2283+1G>A p.? Unknown Endometrium COSM721774 CAMKMT c.762G>T p.R254S Substitution - Missense Lung COSM1075347 ARID1B c.3359C>T p.A1120V Substitution - Missense Endometrium COSM1109437 KIAA2026_ENST00000399933 c.4616A>T p.Y1539F Substitution - Missense Endometrium COSM1088654 STK31 c.2277C>T p.G759G Substitution - coding silent Endometrium COSM1087592 KMT2C c.5929C>A p.Q1977K Substitution - Missense Endometrium COSM1095745 ATAD2 c.3696C>T p.A1232A Substitution - coding silent Endometrium COSM1101396 PRDM14 c.710C>A p.S237Y Substitution - Missense Endometrium COSM1162748 BRD9 c.928A>T p.M310L Substitution - Missense Thyroid COSM1205879 EYA2 c.749G>A p.R250Q Substitution - Missense Large_intestine COSM1263749 RAG2 c.1011A>G p.Q337Q Substitution - coding silent Oesophagus COSM1220388 PHF8 c.2667A>C p.Q889H Substitution - Missense Large_intestine COSM1219404 PBRM1 c.899+1G>A p.? Unknown Large_intestine COSM1179861 TDRD3 c.1285C>A p.P429T Substitution - Missense Prostate COSM1159261 PBRM1 c.2047delA p.I683fs*3 Deletion - Frameshift Pancreas COSM1172567 SMARCA4 c.2933G>A p.R978Q Substitution - Missense Skin COSM1606902 ZMYM2 c.2012A>G p.Y671C Substitution - Missense Liver COSM1302270 CDYL2 c.1048G>A p.V350M Substitution - Missense Urinary_tract COSM1289800 BAZ2A_ENST00000379441 c.5227C>T p.Q1743* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1308001 SMARCB1 c.1110G>T p.R370S Substitution - Missense Urinary_tract COSM1315997 KDM6A c.2531T>A p.L844H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1328092 ATXN7 c.2315A>G p.H772R Substitution - Missense Ovary COSM1466729 MECP2 c.1316C>T p.A439V Substitution - Missense Large_intestine COSM1468237 SUV39H1 c.634C>T p.R212W Substitution - Missense Large_intestine COSM1348066 ERCC6 c.3868G>T p.A1290S Substitution - Missense Large_intestine COSM1351675 KMT2A c.11456G>A p.R3819H Substitution - Missense Large_intestine COSM1566684 PBRM1 c.2211A>G p.T737T Substitution - coding silent Soft_tissue COSM1567100 BRPF1 c.1225T>A p.F409I Substitution - Missense Large_intestine COSM1612161 DPF1 c.614C>T p.A205V Substitution - Missense Liver COSM1615833 DIDO1 c.2536G>T p.A846S Substitution - Missense Liver COSM1582714 KMT2C c.3323+1G>A p.? Unknown Stomach COSM1670725 FXR1 c.1411G>T p.D471Y Substitution - Missense Large_intestine COSM1703076 TDRD1 c.3103C>T p.L1035F Substitution - Missense Skin COSM1716414 CTCF c.610_611insA p.T204fs*26 Insertion - Frameshift Liver COSM1717666 KMT2D c.8366C>T p.T2789I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1726869 FMR1 c.704G>T p.G235V Substitution - Missense Liver COSM1729929 SMYD1 c.785G>C p.R262P Substitution - Missense Liver COSM1741422 ACTB c.775G>A p.E259K Substitution - Missense Urinary_tract COSM1756615 KDM5C c.1539G>T p.W513C Substitution - Missense Pancreas COSM1745403 KDM6A c.2077_2084delGGGGCTGC p.G693fs*34 Deletion - Frameshift Urinary_tract COSM2154646 PRDM16 c.1120A>C p.T374P Substitution - Missense Central_nervous_system COSM2160543 SFMBT2 c.1615T>C p.S539P Substitution - Missense Large_intestine COSM2229145 EP400 c.5102C>T p.P1701L Substitution - Missense Large_intestine COSM2866562 TRRAP c.2947G>A p.A983T Substitution - Missense Stomach COSM2866756 TRRAP c.7664C>T p.T2555M Substitution - Missense Large_intestine COSM2965391 KDM6A c.2416G>A p.A806T Substitution - Missense Upper_aerodigestive_tract COSM3080609 ACTL6B c.1152G>T p.M384I Substitution - Missense Large_intestine COSM3080632 ACTL6B c.332A>C p.E111A Substitution - Missense Large_intestine COSM3304356 KMT2C c.2872-3C>T p.? Unknown Soft_tissue COSM3379792 MBD5 c.1371C>T p.P457P Substitution - coding silent Pancreas COSM3372328 HDAC8 c.1000C>T p.H334Y Substitution - Missense Thyroid COSM3405265 C20orf20 c.542G>A p.R181Q Substitution - Missense Central_nervous_system COSM3488882 ZMYM4 c.1426C>T p.R476C Substitution - Missense Skin COSM3494936 CHD8 c.3336C>T p.F1112F Substitution - coding silent Skin COSM3415871 PHF21A c.1007C>A p.S336Y Substitution - Missense Large_intestine COSM3446224 PRMT3 c.1226C>T p.P409L Substitution - Missense Skin COSM3455336 TDG c.514C>T p.Q172* Substitution - Nonsense Skin COSM3453554 RSF1 c.2621C>T p.S874L Substitution - Missense Skin COSM3474775 PYGO2 c.385C>T p.L129F Substitution - Missense Skin COSM3615221 PRDM9 c.2301G>A p.Q767Q Substitution - coding silent Skin COSM3555274 PHF21B c.424C>T p.P142S Substitution - Missense Skin COSM3669779 TRRAP c.4411C>T p.L1471L Substitution - coding silent Liver COSM3713231 NCOA6 c.6054C>T p.S2018S Substitution - coding silent Upper_aerodigestive_tract COSM3751678 TRDMT1 c.301C>T p.H101Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3779982 KIAA1045 c.238G>A p.E80K Substitution - Missense Urinary_tract COSM3785676 EP300 c.211G>C p.V71L Substitution - Missense Pancreas COSM3801559 PRDM2 c.1567G>C p.E523Q Substitution - Missense Breast COSM3859830 JARID2 c.1469C>T p.P490L Substitution - Missense Stomach COSM3850442 KDM3B c.5240C>T p.A1747V Substitution - Missense Stomach COSM3828009 NIPBL c.5156G>A p.R1719Q Substitution - Missense Breast COSM3946052 PRMT10 c.1586A>G p.N529S Substitution - Missense Lung COSM3961265 EPC2 c.1141-4C>G p.? Unknown Lung COSM3981514 TP53BP1 c.1786G>T p.D596Y Substitution - Missense Ovary COSM4015929 KAT6B c.5045A>G p.N1682S Substitution - Missense Stomach COSM4043654 BAZ2A_ENST00000379441 c.5048G>A p.R1683Q Substitution - Missense Stomach COSM4042324 KMT2D c.15542A>G p.Y5181C Substitution - Missense Stomach COSM4063040 CDYL2 c.903C>T p.S301S Substitution - coding silent Stomach COSM4130747 KDM6B c.177C>T p.P59P Substitution - coding silent Thyroid COSM4162004 KMT2C c.2646C>A p.I882I Substitution - coding silent Thyroid COSM4161255 TDRD6 c.599T>G p.V200G Substitution - Missense Upper_aerodigestive_tract COSM4164744 NCOA3 c.4025C>T p.P1342L Substitution - Missense Kidney COSM4170427 KMT2D c.7123C>T p.R2375* Substitution - Nonsense Oesophagus COSM4384962 PHF12 c.1666C>A p.P556T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384696 KMT2D c.14252G>A p.R4751Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4404450 CHD7 c.4065T>C p.P1355P Substitution - coding silent Skin COSM4409800 SETBP1 c.4043A>G p.H1348R Substitution - Missense Oesophagus COSM4598409 AKAP1 c.988A>G p.S330G Substitution - Missense Upper_aerodigestive_tract COSM4602848 BPTF c.8028_8029insCCTCCAGCC p.P2684_P2685insAPP Insertion - In frame Upper_aerodigestive_tract COSM4416035 MSH6 c.3488A>T p.E1163V Substitution - Missense Upper_aerodigestive_tract COSM4428781 KDM1A c.104C>T p.S35F Substitution - Missense Oesophagus COSM4433737 KDM6A c.2683G>A p.E895K Substitution - Missense Oesophagus COSM4503291 PRDM13 c.636C>T p.P212P Substitution - coding silent Skin COSM4491592 EYA1 c.382C>T p.P128S Substitution - Missense Skin COSM4495755 TCF20 c.4604C>T p.P1535L Substitution - Missense Skin COSM4477255 BAZ2B c.2137C>T p.Q713* Substitution - Nonsense Skin COSM4422671 HELLS c.2370G>A p.K790K Substitution - coding silent Kidney COSM4679205 DOT1L c.2242G>A p.V748M Substitution - Missense Large_intestine COSM4736791 TRRAP c.9477G>A p.R3159R Substitution - coding silent Large_intestine COSM4665050 BAHCC1 c.4760T>G p.V1587G Substitution - Missense Large_intestine COSM4629370 BPTF c.3422C>T p.S1141L Substitution - Missense Large_intestine COSM4645925 CDYL2 c.6T>G p.A2A Substitution - coding silent Large_intestine COSM4772425 NIPBL c.2494C>T p.R832* Substitution - Nonsense Stomach COSM4746443 BRD9 c.38delT p.F13fs*47 Deletion - Frameshift Stomach COSM4753075 ASH2L c.976C>A p.P326T Substitution - Missense Stomach COSM4789563 SMARCA2 c.3464A>T p.Q1155L Substitution - Missense Liver COSM4935546 PHF2 c.569T>A p.L190H Substitution - Missense Liver COSM4819721 SIRT7 c.1191G>C p.K397N Substitution - Missense Cervix COSM4981334 CHD2 c.1973C>A p.S658Y Substitution - Missense Oesophagus COSM4987204 NSD1 c.1840G>T p.V614L Substitution - Missense Soft_tissue COSM5020404 KMT2A c.7245C>T p.N2415N Substitution - coding silent Soft_tissue COSM5187332 CXXC1 c.1110G>A p.A370A Substitution - coding silent Large_intestine COSM5072184 SMARCC2 c.730G>A p.D244N Substitution - Missense Large_intestine COSM5040814 PRDM9 c.1668G>C p.E556D Substitution - Missense Liver COSM5342857 CDYL2 c.541T>A p.L181M Substitution - Missense Large_intestine COSM5415247 KMT2C c.9796C>T p.R3266W Substitution - Missense Endometrium COSM5366928 ZMYM3 c.3385C>T p.R1129* Substitution - Nonsense Large_intestine COSM5382056 CHD8 c.6126G>A p.E2042E Substitution - coding silent Skin COSM5504787 BRWD3 c.3069G>T p.K1023N Substitution - Missense Biliary_tract COSM5502215 PHC2 c.159C>T p.D53D Substitution - coding silent Biliary_tract COSM5576011 CREBBP c.5447G>T p.C1816F Substitution - Missense Stomach COSM5721363 TDRD7 c.2562C>T p.S854S Substitution - coding silent Skin COSM5744315 PRDM8 c.160A>T p.S54C Substitution - Missense Small_intestine COSM5605328 VPS72 c.435C>T p.F145F Substitution - coding silent Skin COSM5583294 ASXL3 c.854C>T p.S285F Substitution - Missense Skin COSM5600202 PHF21B c.438G>A p.A146A Substitution - coding silent Skin COSM5611076 TRRAP c.3362T>C p.V1121A Substitution - Missense Skin COSM5686527 HDAC5 c.1973G>T p.R658L Substitution - Missense Soft_tissue COSM5687310 RSF1 c.962C>T p.P321L Substitution - Missense Soft_tissue COSM5752702 KDM6A c.2306C>A p.S769* Substitution - Nonsense Breast COSM5711684 HDAC6 c.3365T>C p.I1122T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5750037 BAZ2A c.4279C>A p.P1427T Substitution - Missense Stomach COSM5547253 EP400 c.8983delA p.K2995fs*59 Deletion - Frameshift Prostate COSM5547684 KMT2D c.11218delT p.S3740fs*12 Deletion - Frameshift Prostate COSM5786245 ELP3 c.850C>T p.H284Y Substitution - Missense Breast COSM5833237 SMYD4 c.1722_1723insAAA p.G574_P575insK Insertion - In frame Breast COSM5826000 KDM6B c.2252_2253insCAC p.T762_A763insT Insertion - In frame Large_intestine COSM5801562 NCOR1 c.1583_1584insA p.E529fs*7 Insertion - Frameshift Breast COSM5822096 PHF21B c.1417A>G p.R473G Substitution - Missense Liver COSM5900117 CHD7 c.2446G>A p.E816K Substitution - Missense Skin COSM5936458 GATAD2A c.779G>A p.R260K Substitution - Missense Skin COSM5986989 ASH1L c.4902_4903delTT p.S1635fs*18 Deletion - Frameshift Salivary_gland COSM5988958 SIRT7 c.259G>T p.G87W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5989644 TET2 c.2091delA p.V698fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5979531 CHD7 c.694C>A p.P232T Substitution - Missense Upper_aerodigestive_tract COSM6000633 KDM5A c.2116C>A p.L706M Substitution - Missense Prostate COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM166348 DNMT3A c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43409 TET2 c.? p.?fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24616 SMARCB1 c.?_?del? p.? Unknown Soft_tissue COSM144708 PHF6 c.? p.C215Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5885077 ATRX c.? p.G75* Substitution - Nonsense Soft_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1757204 TRRAP c.2600C>T p.P867L Substitution - Missense Urinary_tract COSM5587258 ATRX c.4309G>A p.E1437K Substitution - Missense Skin COSM1741237 ARID1A c.1375C>G p.P459A Substitution - Missense Urinary_tract COSM3727849 TRIM66 c.1888C>G p.L630V Substitution - Missense Upper_aerodigestive_tract COSM3743710 ATAD2B_ENST00000238789 c.1666C>A p.P556T Substitution - Missense Liver COSM86082 KMT2C c.2418C>G p.S806S Substitution - coding silent Breast COSM4791353 NCOA1 c.597G>A p.M199I Substitution - Missense Liver COSM36248 IDH1 c.? p.R132? Substitution - Missense Bone COSM3650082 CHD7 c.6473C>T p.S2158L Substitution - Missense Skin COSM1675222 ERCC6 c.2382G>T p.Q794H Substitution - Missense Prostate COSM1391078 BRD4 c.1894C>T p.R632C Substitution - Missense Large_intestine COSM4616148 TTF2 c.797T>C p.V266A Substitution - Missense Large_intestine COSM1731935 ARID1B c.744_745insGGC p.G261_S262insG Insertion - In frame Thyroid COSM1298714 EED c.224C>G p.S75* Substitution - Nonsense Urinary_tract COSM1753539 PHF17 c.1864G>A p.E622K Substitution - Missense Urinary_tract COSM249560 KMT2C c.5053G>T p.A1685S Substitution - Missense Oesophagus COSM5357794 PRDM1 c.667A>G p.N223D Substitution - Missense Large_intestine COSM1496143 NIPBL c.6659T>A p.L2220* Substitution - Nonsense Kidney COSM4925533 PHF12 c.403G>T p.D135Y Substitution - Missense Liver COSM3967675 PHRF1 c.3096G>A p.A1032A Substitution - coding silent Central_nervous_system COSM3410733 ARID1B c.2880C>T p.D960D Substitution - coding silent Central_nervous_system COSM430521 HNF1A c.51C>G p.L17L Substitution - coding silent Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM1316526 BRWD3 c.5062G>T p.G1688* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1732053 SETD2 c.2559delT p.L854fs*16 Deletion - Frameshift Kidney COSM4774716 KMT2D c.12003A>T p.T4001T Substitution - coding silent Stomach COSM3733523 NCOR1 c.14G>T p.G5V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4186748 PBRM1 c.3103T>C p.C1035R Substitution - Missense Kidney COSM267293 PYGO2 c.448_449insC p.Q150fs*27 Insertion - Frameshift Large_intestine COSM5723153 DIDO1 c.6713C>T p.S2238L Substitution - Missense Skin COSM3494930 CHD8 c.3943A>T p.I1315F Substitution - Missense Skin COSM5996754 PHF1 c.1663G>C p.V555L Substitution - Missense Prostate COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM147594 TDG c.167-9G>A p.? Unknown Stomach COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM924949 PRDM10 c.1988C>T p.S663L Substitution - Missense Endometrium COSM4791526 BRWD1 c.4915A>C p.K1639Q Substitution - Missense Liver COSM1717901 ASXL1 c.1937_1938insG p.G649fs*9 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4585403 PHF15 c.2278G>A p.D760N Substitution - Missense Bone COSM4569639 PHF2 c.1908T>G p.S636S Substitution - coding silent Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM41292 IDH1 c.? p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3338190 ING2 c.515A>C p.D172A Substitution - Missense Bone COSM4495576 SFMBT1 c.456C>T p.L152L Substitution - coding silent Skin COSM4697167 L3MBTL4 c.35T>C p.M12T Substitution - Missense Large_intestine COSM1679602 NCOR1 c.5096C>T p.S1699F Substitution - Missense Large_intestine COSM1262040 PHF16 c.656T>C p.F219S Substitution - Missense Stomach COSM677842 TDRD5 c.1497C>A p.L499L Substitution - coding silent Lung COSM480194 DHX30 c.1115T>G p.I372S Substitution - Missense Kidney COSM5794567 SFMBT2 c.2031G>T p.G677G Substitution - coding silent Breast COSM4160094 PRDM1 c.501C>G p.D167E Substitution - Missense Liver COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3749702 ACTR5 c.18C>T p.F6F Substitution - coding silent Large_intestine COSM1284066 CDYL2 c.462C>T p.N154N Substitution - coding silent Autonomic_ganglia COSM3443941 KMT2A c.1898C>T p.S633F Substitution - Missense Skin COSM164773 TAF1 c.4577G>T p.W1526L Substitution - Missense Breast COSM1630066 NCOR1 c.515C>T p.S172L Substitution - Missense Thyroid COSM3863736 TDRD5 c.1941C>T p.F647F Substitution - coding silent Skin COSM4932502 PHIP c.4168A>T p.S1390C Substitution - Missense Liver COSM1731800 DNMT3A c.162G>C p.K54N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3425268 EPC2 c.235G>A p.A79T Substitution - Missense Liver COSM5923333 SIRT2 c.269-5C>T p.? Unknown Skin COSM245706 KMT2A c.7332A>G p.K2444K Substitution - coding silent Prostate COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1754571 SHPRH c.4170A>G p.E1390E Substitution - coding silent Urinary_tract COSM3750192 PHF2 c.2964G>T p.P988P Substitution - coding silent Large_intestine COSM4059643 GTF3C1 c.4662C>T p.N1554N Substitution - coding silent Stomach COSM1245560 ASH1L c.5948G>A p.R1983H Substitution - Missense Stomach COSM1666862 ARID1A c.? p.? Unknown Urinary_tract COSM21288 BRD3 c.71delC p.P24fs*24 Deletion - Frameshift Stomach COSM4406605 KDM6A c.? p.S114C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5031854 SMARCA5 c.295A>T p.T99S Substitution - Missense Pancreas COSM1087601 KMT2C c.5199G>A p.S1733S Substitution - coding silent Endometrium COSM219272 CHD6 c.2029C>G p.P677A Substitution - Missense Breast COSM4170397 KMT2D c.13380G>A p.W4460* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1049747 TET2 c.1421C>T p.P474L Substitution - Missense Endometrium COSM1622398 TIF1 c.2008G>A p.A670T Substitution - Missense Liver COSM3836957 EPC2 c.285A>T p.K95N Substitution - Missense Breast COSM4791702 ARID4A c.3403C>G p.Q1135E Substitution - Missense Liver COSM1426215 TET2 c.3447C>A p.T1149T Substitution - coding silent Large_intestine COSM895847 POGZ c.1121G>A p.R374Q Substitution - Missense Endometrium COSM1609211 SRCAP c.6603C>A p.F2201L Substitution - Missense Liver COSM4945661 ZMYM1 c.1912A>G p.N638D Substitution - Missense Liver COSM1732103 PBRM1 c.1528G>T p.A510S Substitution - Missense Kidney COSM133727 DNMT3A c.1001_1001delG p.G334fs*11 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5736508 BRPF1 c.2837G>A p.R946H Substitution - Missense Small_intestine COSM3751146 PRDM16 c.1597T>C p.S533P Substitution - Missense Large_intestine COSM4805205 BAZ1A c.3262G>C p.E1088Q Substitution - Missense Liver COSM5723872 STK31 c.948G>A p.E316E Substitution - coding silent Skin COSM34191 ASXL1 c.? p.S1457fs*18 Frameshift Haematopoietic_and_lymphoid_tissue COSM3937063 CREBBP c.5386C>T p.Q1796* Substitution - Nonsense Oesophagus COSM43214 TET2 c.5541G>A p.W1847* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4918031 FMR1 c.977T>C p.V326A Substitution - Missense Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5357416 JARID2 c.347A>C p.K116T Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3301663 CLOCK c.2515G>A p.D839N Substitution - Missense Bone COSM1377530 SETD1A c.2115delC p.G708fs*95 Deletion - Frameshift Large_intestine COSM1319564 PHF2 c.324G>A p.V108V Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM987392 AP001011.3_ENST00000320876 c.2280G>T p.E760D Substitution - Missense Endometrium COSM1717591 PHIP c.2137G>T p.E713* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM288679 MSH6 c.3964G>T p.E1322* Substitution - Nonsense Large_intestine COSM248793 CDYL2 c.1142C>T p.T381M Substitution - Missense Adrenal_gland COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384624 KMT2A c.11214G>C p.K3738N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1155724 ASXL1 c.? p.R1171R Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3712657 ASXL3 c.1439C>T p.S480F Substitution - Missense Upper_aerodigestive_tract COSM445107 PHF21B c.700A>G p.I234V Substitution - Missense Breast COSM3883724 TRRAP c.4473C>T p.N1491N Substitution - coding silent Stomach COSM457734 SMC1A c.1881C>T p.R627R Substitution - coding silent Breast COSM1696223 KDM3B c.2927C>T p.S976F Substitution - Missense Skin COSM5638262 PHF17 c.1638C>G p.C546W Substitution - Missense Oesophagus COSM5747151 BTAF1 c.2390A>G p.N797S Substitution - Missense Pancreas COSM1713780 DIDO1 c.6665G>A p.R2222Q Substitution - Missense Skin COSM4043526 SMARCC2 c.1900G>A p.E634K Substitution - Missense Stomach COSM1719200 KAT2A c.1617C>T p.I539I Substitution - coding silent Skin COSM5569349 RAI1 c.5496C>T p.T1832T Substitution - coding silent Prostate COSM2230141 PRDM2 c.3775G>T p.E1259* Substitution - Nonsense Large_intestine COSM5613658 MPHOSPH8 c.912G>A p.M304I Substitution - Missense Large_intestine COSM3363211 PHF20 c.620A>G p.K207R Substitution - Missense Kidney COSM3112812 SRCAP c.457C>G p.Q153E Substitution - Missense Upper_aerodigestive_tract COSM3602823 WHSC1 c.1128C>T p.S376S Substitution - coding silent Skin COSM4642781 DHX30 c.2832C>T p.A944A Substitution - coding silent Large_intestine COSM4919375 KIAA2026_ENST00000399933 c.3000G>A p.Q1000Q Substitution - coding silent Liver COSM4153885 JHDM1D c.356C>T p.T119I Substitution - Missense Ovary COSM1166702 KMT2C c.13432C>T p.R4478* Substitution - Nonsense Breast COSM1169216 IDH1 c.394_395CG>TC p.R132S Substitution - Missense Central_nervous_system COSM943590 APOBEC1 c.692C>A p.P231H Substitution - Missense Endometrium COSM468037 EP400 c.8226A>G p.Q2742Q Substitution - coding silent Oesophagus COSM444028 ADNP c.1041G>A p.M347I Substitution - Missense Breast COSM5461056 HDAC9 c.1821T>C p.R607R Substitution - coding silent Large_intestine COSM1625756 SCML2 c.94delG p.D32fs*8 Deletion - Frameshift Liver COSM3488227 PRDM16 c.2159C>T p.P720L Substitution - Missense Skin COSM3947401 PRDM9 c.2510G>T p.C837F Substitution - Missense Lung COSM740189 L3MBTL3 c.1712G>C p.R571T Substitution - Missense Lung COSM338680 ZGPAT c.24G>T p.S8S Substitution - coding silent Lung COSM144567 PHF6 c.820C>T p.R274* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1631937 DNMT3A c.396G>A p.V132V Substitution - coding silent Liver COSM3665401 ARID1A c.4993delG p.G1665fs*8 Deletion - Frameshift Liver COSM1749126 RTF1 c.487G>A p.E163K Substitution - Missense Urinary_tract COSM377591 IDH1 c.82G>C p.E28Q Substitution - Missense Lung COSM1080964 PHF3 c.4770G>T p.E1590D Substitution - Missense Oesophagus COSM1204291 DNMT1 c.737G>A p.R246Q Substitution - Missense Large_intestine COSM2177142 TRIM33 c.3258C>T p.F1086F Substitution - coding silent Oesophagus COSM52984 DNMT3A c.? p.R882S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1083 SMARCB1 c.?_?del? p.?del Deletion - In frame Central_nervous_system COSM1034538 EP300 c.3338A>T p.E1113V Substitution - Missense Endometrium COSM2995153 CTCF c.1408C>T p.R470C Substitution - Missense Large_intestine COSM1664527 TET2 c.3527G>C p.R1176T Substitution - Missense Kidney COSM4627264 KDM4A c.2198G>A p.S733N Substitution - Missense Large_intestine COSM5730597 SETD2 c.3620delG p.R1207fs*10 Deletion - Frameshift Breast COSM3973840 TAF1 c.3671G>A p.R1224Q Substitution - Missense Central_nervous_system COSM5628153 KMT2C c.1342C>T p.Q448* Substitution - Nonsense Oesophagus COSM5996162 BRD8 c.3701T>C p.V1234A Substitution - Missense Prostate COSM1488020 ACTL6B c.706A>T p.K236* Substitution - Nonsense Breast COSM443642 DNMT3B c.2240T>C p.I747T Substitution - Missense Breast COSM3792369 EP400 c.3972C>T p.I1324I Substitution - coding silent Urinary_tract COSM985403 CBX8 c.901G>T p.D301Y Substitution - Missense Endometrium COSM220674 KMT2D c.7678C>T p.R2560* Substitution - Nonsense Prostate COSM2859870 TRIM24 c.1568G>A p.S523N Substitution - Missense Large_intestine COSM4441858 POGZ c.2221G>T p.A741S Substitution - Missense Large_intestine COSM3650687 NCOA2 c.1525C>T p.P509S Substitution - Missense Skin COSM5996615 PRDM13 c.1547C>A p.A516D Substitution - Missense Prostate COSM5927232 MBD5 c.1564C>T p.P522S Substitution - Missense Skin COSM1117801 MECP2 c.50A>G p.D17G Substitution - Missense Endometrium COSM4591901 NCOR1 c.618+6T>A p.? Unknown Upper_aerodigestive_tract COSM372335 RBBP7 c.652G>T p.A218S Substitution - Missense Lung COSM88804 TET2 c.? p.R1307S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4829438 SMARCC2 c.3220G>A p.A1074T Substitution - Missense Cervix COSM4591901 NCOR1 c.618+6T>A p.? Unknown Upper_aerodigestive_tract COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4996351 DHX30 c.49C>T p.R17C Substitution - Missense Upper_aerodigestive_tract COSM125338 PHF21A c.1729C>T p.R577C Substitution - Missense Large_intestine COSM13306 BRD2 c.2141C>T p.P714L Substitution - Missense Central_nervous_system COSM1047109 PBRM1 c.59A>G p.D20G Substitution - Missense Endometrium COSM3441506 BTAF1 c.4097G>C p.R1366T Substitution - Missense Skin COSM422563 KDM6A c.2319A>G p.L773L Substitution - coding silent Urinary_tract COSM4047967 SETDB2 c.1388A>G p.K463R Substitution - Missense Stomach COSM3715047 NSD1 c.2873C>T p.S958L Substitution - Missense Upper_aerodigestive_tract COSM3733336 KMT2C c.2263C>T p.Q755* Substitution - Nonsense Upper_aerodigestive_tract COSM1646548 CHD4 c.3319G>C p.E1107Q Substitution - Missense Lung COSM1317289 MTA2 c.866A>G p.D289G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5024815 KMT2A c.2993C>A p.T998N Substitution - Missense Large_intestine COSM5701111 TAF1 c.4325_4326insG p.E1443fs*14 Insertion - Frameshift Soft_tissue COSM4489055 EHMT1 c.3332C>T p.S1111F Substitution - Missense Skin COSM4747512 CBX4 c.1219_1220delTC p.S407fs*39 Deletion - Frameshift Stomach COSM4428760 TTF2 c.858G>A p.T286T Substitution - coding silent Oesophagus COSM3998921 CHD4 c.4626A>C p.T1542T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM358685 ARID2 c.2776G>T p.V926L Substitution - Missense Lung COSM236654 TRIM66 c.3598G>T p.E1200* Substitution - Nonsense Autonomic_ganglia COSM1444902 TDRD6 c.3862G>T p.D1288Y Substitution - Missense Large_intestine COSM4505109 PHF17 c.684C>T p.I228I Substitution - coding silent Skin COSM144496 IDH2 c.? p.R172S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1308627 HDAC11 c.617G>A p.R206H Substitution - Missense Large_intestine COSM125571 PRDM9 c.2273G>A p.R758H Substitution - Missense Breast COSM5347042 ARID1A c.824G>C p.G275A Substitution - Missense Endometrium COSM1662796 MLL5 c.2202G>T p.L734F Substitution - Missense Kidney COSM4887621 KAT2A c.454C>G p.H152D Substitution - Missense Upper_aerodigestive_tract COSM219080 TET2 c.? p.E121* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM84864 PRDM5 c.253G>A p.V85I Substitution - Missense Pancreas COSM3695614 PCGF1 c.449A>G p.Y150C Substitution - Missense Large_intestine COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Upper_aerodigestive_tract COSM4885538 ARID1A c.1293G>A p.P431P Substitution - coding silent Upper_aerodigestive_tract COSM5057599 PRDM15 c.612C>T p.N204N Substitution - coding silent Stomach COSM589490 KDM3B c.3013G>C p.E1005Q Substitution - Missense Stomach COSM1348973 SFMBT2 c.319C>T p.R107C Substitution - Missense Breast COSM1738286 HDAC9 c.1757G>A p.R586H Substitution - Missense Ovary COSM378548 ATAD2 c.1752A>G p.L584L Substitution - coding silent Lung COSM219084 PHF6 c.? p.K44E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4300086 EP300 c.4455T>A p.D1485E Substitution - Missense Oesophagus COSM1716840 ASXL1 c.? p.S847fs*4 Frameshift Haematopoietic_and_lymphoid_tissue COSM169886 ZMYM5 c.779G>A p.R260Q Substitution - Missense Endometrium COSM41877 IDH2 c.418C>T p.R140W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5957487 INTS12 c.1088C>T p.P363L Substitution - Missense Thyroid COSM206759 ASH1L c.2329C>T p.R777C Substitution - Missense Stomach COSM1600764 SETDB1 c.297C>T p.F99F Substitution - coding silent Liver COSM5398637 PHC3 c.1658T>C p.L553P Substitution - Missense Skin COSM5375640 BAZ2A c.5577C>T p.N1859N Substitution - coding silent Skin COSM4418709 NSD1 c.2176T>C p.S726P Substitution - Missense Soft_tissue COSM323144 RTF1 c.608C>G p.S203* Substitution - Nonsense Lung COSM915015 TDRD1 c.1318C>T p.L440F Substitution - Missense Endometrium COSM4393846 TIF1 c.1191C>T p.S397S Substitution - coding silent Skin COSM128301 KDM4A c.1626C>T p.L542L Substitution - coding silent Upper_aerodigestive_tract COSM3554900 L3MBTL2 c.1315C>T p.P439S Substitution - Missense Skin COSM931221 SUV420H1 c.194G>A p.R65H Substitution - Missense Large_intestine COSM3772627 HDAC7 c.331G>T p.G111C Substitution - Missense Pancreas COSM231568 DNMT3A c.2578T>C p.W860R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM173599 MYST3 c.4222G>A p.E1408K Substitution - Missense Large_intestine COSM33135 KMT2C c.1039T>G p.C347G Substitution - Missense Large_intestine COSM1577232 MEN1 c.833_858del26 p.M278fs*30 Deletion - Frameshift Parathyroid COSM1196274 ATXN7 c.2479A>G p.T827A Substitution - Missense Lung COSM1756978 SMARCA4 c.1659C>G p.L553L Substitution - coding silent Urinary_tract COSM5661407 SIRT3 c.1129C>T p.L377L Substitution - coding silent Soft_tissue COSM2208072 GATAD2B c.992G>A p.R331K Substitution - Missense Oesophagus COSM4929929 NCOA1 c.3271A>C p.R1091R Substitution - coding silent Liver COSM1314132 CHD7 c.1394C>A p.S465Y Substitution - Missense Urinary_tract COSM43425 TET2 c.4283_4283delA p.E1428fs*20 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2911858 DNMT3A c.266C>T p.P89L Substitution - Missense Large_intestine COSM30495 SETD2 c.5218delC p.Q1740fs*5 Deletion - Frameshift Kidney COSM3531634 DOT1L c.5147C>T p.S1716F Substitution - Missense Skin COSM88749 CREBBP c.4336C>T p.R1446C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1476624 SMARCD1 c.409A>G p.I137V Substitution - Missense Breast COSM600065 EZH2 c.2050C>A p.R684S Substitution - Missense Skin COSM6006417 KMT2C c.7852C>T p.Q2618* Substitution - Nonsense Central_nervous_system COSM4605388 TDRD3 c.446C>A p.T149K Substitution - Missense Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4387454 BAP1 c.438-2A>G p.? Unknown Eye COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5581821 NCOA3 c.863C>T p.S288F Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM380038 HDAC6 c.671G>T p.G224V Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1734470 L3MBTL2 c.1048G>A p.G350R Substitution - Missense Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1476337 EP400 c.1772A>G p.Q591R Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3731686 ACTR6 c.495_496insA p.E168fs*31 Insertion - Frameshift Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3366673 KMT2C c.12667-1G>C p.? Unknown Kidney COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5383360 TP53BP1 c.1258_1259CC>TT p.P420F Substitution - Missense Skin COSM5720372 BRD8 c.3665G>A p.G1222E Substitution - Missense Skin COSM5732101 PHIP c.275A>G p.Q92R Substitution - Missense Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4456587 SIRT1 c.1015C>T p.L339L Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3407647 SP140_ENST00000392045 c.447C>T p.N149N Substitution - coding silent Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1659156 MEN1 c.496C>T p.Q166* Substitution - Nonsense Central_nervous_system COSM5878964 TET2 c.1937_1938insAGTGG p.D648fs*54 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM4773357 PYGO2 c.374G>C p.G125A Substitution - Missense Stomach COSM3720518 ASXL1 c.2746A>T p.R916* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Bone COSM4991717 DNMT3A c.2324C>T p.S775F Substitution - Missense Skin COSM5366825 PHF16 c.1652A>C p.E551A Substitution - Missense Large_intestine COSM1179261 GABRG1 c.239G>A p.R80H Substitution - Missense Prostate COSM5636187 KMT2C c.4165G>T p.D1389Y Substitution - Missense Oesophagus COSM1125473 ATRX c.3000A>C p.K1000N Substitution - Missense Endometrium COSM269943 PRDM9 c.1290C>A p.P430P Substitution - coding silent Large_intestine COSM1479305 RAI1 c.837_838delGC p.Q280fs*108 Deletion - Frameshift Upper_aerodigestive_tract COSM1088139 HDAC9 c.138G>A p.L46L Substitution - coding silent Endometrium COSM4880837 CHD7 c.5545G>T p.D1849Y Substitution - Missense Prostate COSM4022211 POGZ c.3662G>A p.R1221H Substitution - Missense Stomach COSM3901339 NCOA2 c.2543C>T p.A848V Substitution - Missense Stomach COSM5702534 BAP1 c.1256_1269del14 p.K419fs*11 Deletion - Frameshift Eye COSM1679676 PHF12 c.2518C>G p.H840D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM376842 BRD8 c.3200_3201GC>AT p.G1067>? Complex Lung COSM5001166 CHD9 c.410A>G p.N137S Substitution - Missense Pancreas COSM3554887 EP300 c.3198C>T p.Y1066Y Substitution - coding silent Skin COSM6006365 PBRM1 c.3862A>G p.I1288V Substitution - Missense Skin COSM4035255 MEN1 c.988C>T p.R330C Substitution - Missense Stomach COSM4054572 MGA c.6125T>G p.V2042G Substitution - Missense Stomach COSM2808619 AP001011.3_ENST00000320876 c.3715C>T p.R1239C Substitution - Missense Large_intestine COSM285216 AP001011.3_ENST00000320876 c.3752C>A p.S1251Y Substitution - Missense Large_intestine COSM21281 BRD3 c.651C>G p.A217A Substitution - coding silent Stomach COSM37030 EZH2 c.1936T>C p.Y646H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM23064 MEN1 c.794_802del9 p.W265_L267del Deletion - In frame Parathyroid COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM29495 SMARCB1 c.1145delC p.P383fs*4 Deletion - Frameshift Central_nervous_system COSM53095 DNMT3A c.2196_2197insT p.E733fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM52980 EZH2 c.2069G>A p.R690H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM70621 EPC1 c.2195A>C p.H732P Substitution - Missense Ovary COSM88572 HDAC2 c.325G>C p.E109Q Substitution - Missense Ovary COSM94143 DNMT3A c.113G>A p.R38H Substitution - Missense Large_intestine COSM110414 SMARCB1 c.563C>T p.P188L Substitution - Missense Skin COSM110414 SMARCB1 c.563C>T p.P188L Substitution - Missense Skin COSM88015 TIF1 c.2925G>T p.R975S Substitution - Missense Central_nervous_system COSM112087 TDG c.286_287insA p.I98fs*6 Insertion - Frameshift Upper_aerodigestive_tract COSM112121 PRDM2 c.2104_2105insCTC p.P703_A704insP Insertion - In frame Central_nervous_system COSM159176 ARID1B c.3390C>G p.Y1130* Substitution - Nonsense Breast COSM186829 NIPBL c.5680C>T p.R1894C Substitution - Missense Stomach COSM217408 HDAC9 c.3128T>A p.L1043Q Substitution - Missense Liver COSM220504 HDAC7 c.2356G>A p.A786T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM246697 POGZ c.1667A>G p.Y556C Substitution - Missense Prostate COSM41850 TET2 c.1630C>T p.R544* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM265344 L3MBTL2 c.1901C>T p.P634L Substitution - Missense Large_intestine COSM322976 RAI1 c.596C>T p.S199F Substitution - Missense Lung COSM308403 KAT2B c.2137C>A p.P713T Substitution - Missense Kidney COSM335962 PHF19 c.1010T>A p.F337Y Substitution - Missense Lung COSM419217 PRDM15 c.4073C>A p.T1358N Substitution - Missense Urinary_tract COSM5232992 KMT2D c.9397G>T p.A3133S Substitution - Missense Lung COSM465482 SUV39H2 c.712G>A p.D238N Substitution - Missense Kidney COSM473301 PHF23 c.725C>T p.P242L Substitution - Missense Kidney COSM688157 ALKBH3 c.669+1G>T p.? Unknown Lung COSM757489 ATRX c.1822G>T p.V608F Substitution - Missense Lung COSM758039 KDM5D c.4042G>T p.E1348* Substitution - Nonsense Lung COSM734370 GABRG1 c.608C>T p.P203L Substitution - Missense Lung COSM724826 DIDO1 c.2104A>G p.I702V Substitution - Missense Lung COSM926919 ALKBH3 c.641C>T p.T214I Substitution - Missense Endometrium COSM1045664 SMARCC1 c.1657A>G p.T553A Substitution - Missense Endometrium COSM1111295 PHF2 c.848G>A p.R283H Substitution - Missense Large_intestine COSM1114034 ZBTB33 c.1609C>T p.R537C Substitution - Missense Endometrium COSM1122184 HDAC6 c.1072G>A p.A358T Substitution - Missense Endometrium COSM1125418 ATRX c.5407C>T p.R1803C Substitution - Missense Endometrium COSM1123025 SMC1A c.3299C>A p.P1100H Substitution - Missense Endometrium COSM1100767 CHD7 c.258G>A p.P86P Substitution - coding silent Biliary_tract COSM1081863 PHIP c.2093T>A p.V698E Substitution - Missense Endometrium COSM1245451 ARID2 c.3965delT p.I1322fs*9 Deletion - Frameshift Oesophagus COSM1242845 SIRT3 c.540delT p.F180fs*93 Deletion - Frameshift Oesophagus COSM1262957 PRDM9 c.631T>G p.F211V Substitution - Missense Stomach COSM1220342 PHF14 c.1618C>T p.R540W Substitution - Missense Large_intestine COSM1160920 ZMYM6 c.495C>A p.F165L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1187781 TDRD7 c.2194C>T p.L732F Substitution - Missense Lung COSM1317655 HDGF c.564G>A p.E188E Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1329944 KMT2C c.3797G>T p.G1266V Substitution - Missense Ovary COSM1442451 HDGFL1 c.342C>T p.G114G Substitution - coding silent Large_intestine COSM1365714 ZMYM2 c.603A>G p.Q201Q Substitution - coding silent Large_intestine COSM1566684 PBRM1 c.2211A>G p.T737T Substitution - coding silent Soft_tissue COSM1469474 ATRX c.2978delA p.K993fs*10 Deletion - Frameshift Large_intestine COSM1587024 ZMYM2 c.1893G>A p.A631A Substitution - coding silent Endometrium COSM1622396 TIF1 c.1810_1811insT p.V605fs*6 Insertion - Frameshift Liver COSM1682569 KDM6A c.3614T>G p.V1205G Substitution - Missense Large_intestine COSM1717602 KMT2D c.7390C>T p.R2464* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1752710 SMYD1 c.153G>A p.V51V Substitution - coding silent Urinary_tract COSM1741899 CHD6 c.475G>A p.E159K Substitution - Missense Urinary_tract COSM1725000 ASXL1 c.2095delC p.P699fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1969507 BTAF1 c.4514_4516delAAG p.E1506delE Deletion - In frame Skin COSM2064424 TDG c.708A>C p.E236D Substitution - Missense Large_intestine COSM2151157 ATRX c.3510A>G p.Q1170Q Substitution - coding silent Central_nervous_system COSM2753906 KDM4B c.450C>T p.N150N Substitution - coding silent Large_intestine COSM2834167 BRD7 c.493G>A p.A165T Substitution - Missense Large_intestine COSM2965381 KDM6A c.2251G>A p.V751I Substitution - Missense Skin COSM3357388 PHF6 c.418+2T>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3367629 WDR5 c.222G>A p.A74A Substitution - coding silent Kidney COSM3505543 CHD2 c.3409C>T p.R1137* Substitution - Nonsense Skin COSM3467900 RNF17 c.1378C>T p.P460S Substitution - Missense Skin COSM3464426 ING4 c.49C>T p.L17F Substitution - Missense Skin COSM3642741 TRRAP c.540C>A p.P180P Substitution - coding silent Skin COSM3578900 SP140_ENST00000392045 c.1444G>A p.D482N Substitution - Missense Skin COSM3545551 NCOA6 c.5263C>T p.P1755S Substitution - Missense Skin COSM3656078 EHMT1 c.791C>T p.T264I Substitution - Missense Skin COSM3647910 ELP3 c.931C>T p.R311C Substitution - Missense Large_intestine COSM3786117 AICDA c.169G>A p.V57M Substitution - Missense Pancreas COSM3814467 CHD8 c.6369C>T p.L2123L Substitution - coding silent Breast COSM3821464 SETBP1 c.3215C>A p.P1072H Substitution - Missense Breast COSM3925752 TDRD7 c.118C>T p.P40S Substitution - Missense Skin COSM3891037 SETBP1 c.776C>T p.S259F Substitution - Missense Skin COSM3963469 ASXL1 c.1612A>G p.K538E Substitution - Missense Lung COSM4041501 PRMT8 c.1054G>A p.E352K Substitution - Missense Stomach COSM4111263 BRWD3 c.3846T>C p.G1282G Substitution - coding silent Stomach COSM4111265 BRWD3 c.3082C>T p.P1028S Substitution - Missense Large_intestine COSM4059665 GTF3C1 c.875G>A p.R292H Substitution - Missense Stomach COSM4129608 NCOR1 c.571G>A p.E191K Substitution - Missense Upper_aerodigestive_tract COSM4385489 PHF6 c.92T>G p.L31* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4385265 EP300 c.6796_6798delCAG p.Q2268delQ Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM4419702 NSD1 c.1482C>T p.C494C Substitution - coding silent Soft_tissue COSM4433960 SFMBT2 c.1461G>T p.K487N Substitution - Missense Oesophagus COSM4577264 ZMYM4 c.2864A>C p.K955T Substitution - Missense Bone COSM4461665 LMNB2 c.1155C>T p.S385S Substitution - coding silent Skin COSM4421106 MEAF6 c.374C>A p.S125Y Substitution - Missense Prostate COSM4440697 TBL1XR1 c.1255T>A p.S419T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4679695 DUSP1 c.1059G>A p.A353A Substitution - coding silent Large_intestine COSM4669278 CARM1 c.661C>T p.H221Y Substitution - Missense Large_intestine COSM4626414 EHMT1 c.3616C>T p.Q1206* Substitution - Nonsense Large_intestine COSM4647639 SMARCC2 c.3216C>T p.G1072G Substitution - coding silent Large_intestine COSM4650524 SUV420H2 c.895G>A p.A299T Substitution - Missense Large_intestine COSM4615600 KDM6B c.3021_3026delCAAGGT p.K1008_V1009delKV Deletion - In frame Large_intestine COSM4630361 CHD3 c.1029C>T p.R343R Substitution - coding silent Large_intestine COSM4910208 LMNB2 c.785A>T p.Y262F Substitution - Missense Liver COSM4832930 TCF20 c.5509G>A p.E1837K Substitution - Missense Cervix COSM4845559 ARID1A c.3049G>A p.E1017K Substitution - Missense Cervix COSM4994077 SETD2 c.3548G>C p.R1183P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4981827 BRPF1 c.3048C>T p.S1016S Substitution - coding silent Oesophagus COSM4987501 TAF3 c.452C>T p.A151V Substitution - Missense Soft_tissue COSM5019142 ARID2 c.4815C>T p.G1605G Substitution - coding silent Soft_tissue COSM5006604 TTF2 c.1107C>T p.P369P Substitution - coding silent Large_intestine COSM5064355 SMARCA1 c.917G>A p.R306Q Substitution - Missense Stomach COSM5369666 AP001011.3_ENST00000320876 c.1318C>T p.P440S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5418745 SMARCA2 c.1626T>A p.N542K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5499857 PHF2 c.602+6T>C p.? Unknown Biliary_tract COSM5508619 ARID1B c.6027G>T p.T2009T Substitution - coding silent Biliary_tract COSM5517407 ERCC6 c.569C>T p.A190V Substitution - Missense Biliary_tract COSM5471626 SMYD1 c.1355G>A p.R452H Substitution - Missense Large_intestine COSM5719961 BRPF1 c.3146C>T p.T1049I Substitution - Missense Skin COSM5611060 TRRAP c.2373C>T p.N791N Substitution - coding silent Skin COSM5556665 LBR c.1770C>T p.H590H Substitution - coding silent Prostate COSM5879016 TET2 c.3589A>G p.K1197E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5835429 ACTB c.677delA p.E226fs*58 Deletion - Frameshift Breast COSM5897074 ALKBH1 c.293-5T>A p.? Unknown Skin COSM5944122 ASXL1 c.2611_2611delT p.S871fs*5 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5898071 TAF1 c.1822G>T p.G608W Substitution - Missense Skin COSM5962181 ERCC6 c.3450G>T p.K1150N Substitution - Missense Breast COSM5985544 DNMT3A c.2695delC p.R899fs*7 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM6004560 ASXL1 c.2151G>T p.R717S Substitution - Missense Prostate COSM5753368 PBRM1 c.? p.Q238* Substitution - Nonsense Kidney COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM5945713 ATRX c.? p.? Unknown Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5414961 ARID1A c.? p.? Unknown Endometrium COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1289351 EPC1 c.735T>G p.V245V Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM385428 ZBTB4 c.1027G>C p.E343Q Substitution - Missense Lung COSM4458401 PHC3 c.990C>T p.S330S Substitution - coding silent Skin COSM4401049 RNF17 c.1367C>T p.S456L Substitution - Missense Skin COSM5346942 ARID1A c.6527delA p.Q2176fs*24 Deletion - Frameshift Endometrium COSM4590139 KAT2A c.1586A>C p.H529P Substitution - Missense Upper_aerodigestive_tract COSM4929723 MECOM c.2498G>C p.G833A Substitution - Missense Liver COSM3550999 PRDM15 c.538C>T p.P180S Substitution - Missense Skin COSM144830 NSD1 c.5177C>T p.P1726L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2053985 TDRD1 c.3328G>A p.D1110N Substitution - Missense Skin COSM4701977 MGA c.5787C>A p.I1929I Substitution - coding silent Large_intestine COSM979412 KAT2A c.1935C>T p.Y645Y Substitution - coding silent Endometrium COSM1583402 SETDB1 c.1842G>A p.R614R Substitution - coding silent Endometrium COSM5368402 ASXL1 c.4046T>C p.V1349A Substitution - Missense Pancreas COSM3729906 MBD4 c.939delA p.E314fs*4 Deletion - Frameshift Large_intestine COSM3615952 NIPBL c.4203A>T p.L1401L Substitution - coding silent Skin COSM3353941 CDYL c.1462G>A p.V488I Substitution - Missense Stomach COSM5709466 KDM3B c.3151G>A p.G1051R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4590380 KMT2C c.7443A>T p.R2481S Substitution - Missense Upper_aerodigestive_tract COSM4170056 TET2 c.4537+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM980862 MYST2 c.1301T>G p.L434* Substitution - Nonsense Endometrium COSM4388033 KMT2C c.2748C>T p.I916I Substitution - coding silent Pancreas COSM4731946 TAF1 c.3762G>A p.M1254I Substitution - Missense Large_intestine COSM5352316 EP300 c.? p.R1599H Substitution - Missense Endometrium COSM3473521 SETDB1 c.1408C>T p.Q470* Substitution - Nonsense Skin COSM4982750 TRIM28 c.1677G>C p.E559D Substitution - Missense Oesophagus COSM402796 PHF3 c.2495G>C p.R832P Substitution - Missense Lung COSM109536 ARID4A c.1926G>A p.K642K Substitution - coding silent Skin COSM1316122 KDM1A c.1658T>C p.L553P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41644 TET2 c.1648C>T p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3986925 ARID2 c.2977A>T p.T993S Substitution - Missense Kidney COSM1732049 PBRM1 c.2890G>C p.V964L Substitution - Missense Kidney COSM23017 MEN1 c.398_430del33 p.Y133_L143del Deletion - In frame Parathyroid COSM2007304 KMT2D c.2589G>A p.E863E Substitution - coding silent Large_intestine COSM3767002 PHF8 c.3005G>A p.G1002D Substitution - Missense Liver COSM4746214 NIPBL c.5356A>G p.I1786V Substitution - Missense Central_nervous_system COSM1107705 SMARCA2 c.1399C>T p.R467W Substitution - Missense Endometrium COSM1676177 DPF2 c.1034G>T p.C345F Substitution - Missense Kidney COSM4450974 BRDT c.992A>G p.Y331C Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1361681 ARID2 c.875delT p.L293fs*1 Deletion - Frameshift Large_intestine COSM5998811 EHMT1 c.3148C>T p.R1050C Substitution - Missense Prostate COSM1716781 TET2 c.? p.A1876V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4702377 KMT2A c.1894delT p.S633fs*24 Deletion - Frameshift Large_intestine COSM5911826 ACTL6A c.1123-6T>A p.? Unknown Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Large_intestine COSM1050505 PRDM5 c.765T>A p.T255T Substitution - coding silent Endometrium COSM447710 WHSC1 c.1656C>G p.D552E Substitution - Missense Breast COSM4884159 ATRX c.5822G>T p.S1941I Substitution - Missense Upper_aerodigestive_tract COSM1087666 KMT2C c.592G>T p.E198* Substitution - Nonsense Endometrium COSM5672977 CHD7 c.134A>T p.Q45L Substitution - Missense Soft_tissue COSM4728325 SMARCC1 c.498delC p.R167fs*12 Deletion - Frameshift Large_intestine COSM2183651 POGZ c.850C>T p.P284S Substitution - Missense Skin COSM1673880 MYST3 c.5629C>T p.R1877C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1741347 NCOA6 c.5095C>G p.P1699A Substitution - Missense Urinary_tract COSM5897585 L3MBTL3 c.988C>T p.H330Y Substitution - Missense Skin COSM1461545 PSIP1 c.86C>A p.P29H Substitution - Missense Large_intestine COSM3368591 EED c.104G>A p.G35E Substitution - Missense Thyroid COSM95401 TRIM28 c.1771C>T p.R591C Substitution - Missense Breast COSM221796 TDG c.602A>C p.K201T Substitution - Missense Skin COSM85916 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1663353 PBRM1 c.169A>G p.I57V Substitution - Missense Kidney COSM5411130 KIAA2026_ENST00000399933 c.2384G>A p.G795E Substitution - Missense Skin COSM3691298 CHD9 c.2046G>T p.E682D Substitution - Missense Large_intestine COSM3808497 KMT2A c.11222G>A p.R3741Q Substitution - Missense Breast COSM4068901 BPTF c.797G>A p.R266H Substitution - Missense Stomach COSM1071547 CHD1 c.4100A>G p.D1367G Substitution - Missense Endometrium COSM5768259 ERCC6 c.2019G>A p.L673L Substitution - coding silent Breast COSM4779230 PHF17 c.808C>A p.P270T Substitution - Missense Liver COSM5442764 SRCAP c.1384delA p.S462fs*117 Deletion - Frameshift Oesophagus COSM4170437 KMT2D c.5785delT p.Y1929fs*65 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3383014 KAT6B c.473G>A p.R158H Substitution - Missense Pancreas COSM283394 NSD1 c.3810G>T p.E1270D Substitution - Missense Large_intestine COSM1093696 TRRAP c.9070C>T p.L3024L Substitution - coding silent Endometrium COSM255014 KDM6A c.2995G>T p.E999* Substitution - Nonsense Urinary_tract COSM3750192 PHF2 c.2964G>T p.P988P Substitution - coding silent Large_intestine COSM1704881 PRMT8 c.125C>T p.P42L Substitution - Missense Skin COSM1180166 GABRG1 c.32C>T p.P11L Substitution - Missense Skin COSM2235432 ARID1A c.1813C>T p.Q605* Substitution - Nonsense Stomach COSM3414093 KDM4B c.2322C>T p.I774I Substitution - coding silent Oesophagus COSM3817650 GTF3C1 c.5924+2T>G p.? Unknown Breast COSM3777508 EHMT2 c.169G>A p.D57N Substitution - Missense Urinary_tract COSM6006426 SMARCB1 c.331_332insGT p.S111fs*33 Insertion - Frameshift Central_nervous_system COSM3604094 GABRG1 c.613G>A p.E205K Substitution - Missense Skin COSM5786433 SETDB1 c.3579T>A p.V1193V Substitution - coding silent Breast COSM4829199 EYA4 c.339A>G p.G113G Substitution - coding silent Cervix COSM51463 ARID1A c.13_14ins28 p.V5fs*115 Insertion - Frameshift Ovary COSM146004 TET1 c.919C>A p.P307T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3861748 BAG6 c.1448-1G>T p.? Unknown Stomach COSM282744 MECOM c.886G>A p.A296T Substitution - Missense Large_intestine COSM4134441 DNMT3B c.1572T>C p.C524C Substitution - coding silent Thyroid COSM5051638 KMT2D c.4546C>T p.R1516C Substitution - Missense Stomach COSM1716570 BAP1 c.38-?_2190+?del p.? Unknown Pleura COSM4614704 KMT2D c.6839delC p.P2280fs*33 Deletion - Frameshift Large_intestine COSM211669 TET2 c.5648C>T p.T1883I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM983275 BPTF c.738C>T p.V246V Substitution - coding silent Endometrium COSM1190940 TFPT c.511_513delAGG p.R171delR Deletion - In frame Lung COSM996182 SIRT2 c.457C>T p.R153C Substitution - Missense Large_intestine COSM3558880 FMR1 c.1372G>A p.E458K Substitution - Missense Skin COSM1436883 PRDM9 c.1125A>T p.K375N Substitution - Missense Large_intestine COSM549397 MBD6 c.842A>C p.H281P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5348033 TBL1XR1 c.1275delG p.R425fs*5 Deletion - Frameshift Liver COSM5421688 ARID1B c.2264C>T p.A755V Substitution - Missense Prostate COSM2853483 BAP1 c.920G>A p.G307D Substitution - Missense Large_intestine COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4471381 RAI1 c.1716C>T p.F572F Substitution - coding silent Skin COSM96513 EP300 c.5188delT p.S1730fs*4 Deletion - Frameshift Ovary COSM4832582 KDM4C c.1889C>T p.A630V Substitution - Missense Cervix COSM76529 SMC1A c.2684G>A p.R895H Substitution - Missense Ovary COSM745627 HDAC9 c.949G>T p.D317Y Substitution - Missense Lung COSM261645 KIAA2026_ENST00000399933 c.5643T>C p.S1881S Substitution - coding silent Large_intestine COSM4107983 HCFC1 c.1552G>A p.A518T Substitution - Missense Stomach COSM3608976 KDM3B c.1906C>T p.P636S Substitution - Missense Skin COSM5618972 BRD1 c.2667C>T p.R889R Substitution - coding silent Breast COSM3781053 CHD4 c.3331C>T p.R1111C Substitution - Missense Large_intestine COSM374622 KMT2C c.6818C>T p.S2273F Substitution - Missense Lung COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5060047 TET2 c.5644G>A p.A1882T Substitution - Missense Stomach COSM5716135 TDRKH c.1486C>T p.P496S Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM937151 EP400 c.2659G>A p.A887T Substitution - Missense Endometrium COSM4107953 HCFC1 c.5689G>A p.A1897T Substitution - Missense Stomach COSM2965383 KDM6A c.2260A>G p.M754V Substitution - Missense Upper_aerodigestive_tract COSM1628602 ARID2 c.551C>G p.S184* Substitution - Nonsense Liver COSM4518213 TDRD6 c.5636_5637CC>TT p.S1879F Substitution - Missense Skin COSM4464870 HDAC4 c.1356C>T p.S452S Substitution - coding silent Skin COSM5046271 RAI1 c.3919C>T p.R1307W Substitution - Missense Oesophagus COSM309431 BAG6 c.595C>T p.Q199* Substitution - Nonsense Soft_tissue COSM3903662 PHF19 c.1526T>A p.V509D Substitution - Missense Stomach COSM4136940 EYA2 c.785C>T p.A262V Substitution - Missense Ovary COSM4804043 EHMT1 c.2006G>T p.G669V Substitution - Missense Liver COSM3662438 DAXX c.1341G>A p.E447E Substitution - coding silent Liver COSM2919890 CREBBP c.7112C>T p.P2371L Substitution - Missense Skin COSM3508989 SETD1A c.3044C>T p.S1015F Substitution - Missense Skin COSM1709006 GTF3C1 c.2843C>T p.P948L Substitution - Missense Skin COSM3636549 KMT2C c.972C>T p.F324F Substitution - coding silent Skin COSM5567416 SMARCA4 c.4428C>T p.S1476S Substitution - coding silent Prostate COSM4059664 GTF3C1 c.892C>G p.L298V Substitution - Missense Stomach COSM471986 PRMT7 c.2056A>G p.R686G Substitution - Missense Kidney COSM3583866 SMYD1 c.678C>T p.S226S Substitution - coding silent Skin COSM4003461 NSD1 c.6829T>C p.L2277L Substitution - coding silent Soft_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM95814 CREBBP c.5475C>G p.L1825L Substitution - coding silent Lung COSM5368987 ASH1L c.7056-1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3991631 DNMT3B c.364C>G p.R122G Substitution - Missense Kidney COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5689218 PHF20 c.1767G>T p.M589I Substitution - Missense Soft_tissue COSM5455478 BAG6 c.505G>A p.A169T Substitution - Missense Large_intestine COSM1155718 ASXL1 c.3319C>T p.L1107F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2007278 KMT2D c.2935C>T p.R979* Substitution - Nonsense Oesophagus COSM750805 NCOA2 c.1472G>A p.R491H Substitution - Missense Stomach COSM328502 IKZF1 c.161-31337_850+4078>GGGG p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5600200 PHF17 c.984C>T p.C328C Substitution - coding silent Skin COSM3475163 LMNA c.1209C>T p.S403S Substitution - coding silent Skin COSM5420759 KMT2C c.9748C>T p.Q3250* Substitution - Nonsense Prostate COSM1026087 NCOA6 c.2825A>C p.E942A Substitution - Missense Endometrium COSM4156731 HCFC1 c.3621C>A p.T1207T Substitution - coding silent Thyroid COSM3973273 PHF6 c.410A>G p.N137S Substitution - Missense Central_nervous_system COSM3667364 ASH1L c.4053G>A p.G1351G Substitution - coding silent Liver COSM4665062 BAHD1 c.1016A>G p.K339R Substitution - Missense Large_intestine COSM4671949 CHD1 c.1095T>C p.N365N Substitution - coding silent Large_intestine COSM5608360 EP300 c.3963C>T p.V1321V Substitution - coding silent Skin COSM1581519 PRDM16 c.472G>A p.V158M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4383725 MECOM c.154T>G p.S52A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1685359 SETBP1 c.? p.G870D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM961369 INOC1 c.348C>T p.F116F Substitution - coding silent Endometrium COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5352302 ARID1A c.? p.G2087R Substitution - Missense Endometrium COSM461776 BRPF3 c.371C>G p.S124* Substitution - Nonsense Cervix COSM3861461 ATAT1 c.453G>A p.P151P Substitution - coding silent Stomach COSM5944236 TET2 c.3725_3729delACAAA p.D1242fs*24 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM42016 TET2 c.4393C>T p.R1465* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM51417 ARID1A c.4201C>T p.Q1401* Substitution - Nonsense Ovary COSM4955917 HNF1A c.1234A>T p.M412L Substitution - Missense Liver COSM4499347 TCF20 c.5404C>T p.L1802L Substitution - coding silent Skin COSM4466124 JHDM1D c.1417C>T p.R473* Substitution - Nonsense Skin COSM285558 TAF1L c.2089C>A p.L697I Substitution - Missense Large_intestine COSM5974817 SMARCC1 c.348C>A p.G116G Substitution - coding silent Upper_aerodigestive_tract COSM1605808 EP400 c.2863G>A p.E955K Substitution - Missense Liver COSM1725153 HNF1A c.1238C>T p.T413I Substitution - Missense Liver COSM5618080 HDAC9 c.2380G>A p.G794R Substitution - Missense Breast COSM1169606 TET2 c.? p.A912fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM1200965 CHD3 c.292G>A p.G98R Substitution - Missense Large_intestine COSM5723933 CHD7 c.3764C>T p.P1255L Substitution - Missense Skin COSM4795363 HDAC4 c.2834G>A p.G945D Substitution - Missense Liver COSM5924085 PHF12 c.2681-5C>T p.? Unknown Skin COSM4728610 SMYD2 c.1257T>C p.D419D Substitution - coding silent Large_intestine COSM1242127 CHD3 c.1664T>C p.V555A Substitution - Missense Oesophagus COSM1427438 PRMT10 c.81G>T p.R27R Substitution - coding silent Large_intestine COSM1672467 TDRD6 c.1664C>T p.A555V Substitution - Missense Large_intestine COSM5347218 ARID1A c.?_?del? p.P726fs*? Deletion - Frameshift Endometrium COSM383755 TDRD5 c.2685G>T p.K895N Substitution - Missense Lung COSM4169705 EP300 c.? p.P925T Substitution - Missense Lung COSM171492 BRDT c.934G>A p.V312I Substitution - Missense Central_nervous_system COSM4180817 KAT6B c.1514C>T p.P505L Substitution - Missense Large_intestine COSM1732982 SETD1B c.2059G>A p.A687T Substitution - Missense Cervix COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Biliary_tract COSM418800 HDAC4 c.160G>A p.D54N Substitution - Missense Urinary_tract COSM1298254 PHRF1 c.838G>A p.E280K Substitution - Missense Urinary_tract COSM3879445 SMARCD3 c.1090C>T p.L364L Substitution - coding silent Stomach COSM4966408 APOBEC1 c.40C>T p.L14L Substitution - coding silent Prostate COSM1333994 POGZ c.2130C>T p.S710S Substitution - coding silent Large_intestine COSM52947 IDH2 c.? p.R172? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5693979 ZMYM3 c.762A>T p.V254V Substitution - coding silent Soft_tissue COSM1622312 SND1 c.1780-8T>A p.? Unknown Liver COSM1413186 ZGPAT c.1372C>T p.R458W Substitution - Missense Large_intestine COSM3563499 ATRX c.6054G>A p.G2018G Substitution - coding silent Skin COSM2965373 KDM6A c.2171T>C p.I724T Substitution - Missense Upper_aerodigestive_tract COSM120170 TET2 c.1802_1802delC p.S602fs*37 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4808288 ZMYM2 c.197T>G p.V66G Substitution - Missense Pancreas COSM3488259 PRDM16 c.3609G>A p.E1203E Substitution - coding silent Skin COSM6010210 SMYD1 c.409G>C p.E137Q Substitution - Missense Skin COSM2965481 KDM6A c.3897T>C p.T1299T Substitution - coding silent Cervix COSM1462638 KIAA2026_ENST00000399933 c.5294C>T p.S1765L Substitution - Missense Large_intestine COSM5403088 DUSP1 c.1079C>T p.P360L Substitution - Missense Skin COSM1381161 SMYD4 c.1672C>T p.R558W Substitution - Missense Large_intestine COSM5455461 JARID2 c.3552C>T p.Y1184Y Substitution - coding silent Large_intestine COSM3690711 SETD1A c.3338C>T p.A1113V Substitution - Missense Large_intestine COSM1640116 ARID4A c.1259delA p.D423fs*2 Deletion - Frameshift Stomach COSM1742841 BAP1 c.1315G>T p.V439L Substitution - Missense Biliary_tract COSM3092498 PHF8 c.1594G>A p.A532T Substitution - Missense Large_intestine COSM1045437 SETD2 c.4721G>A p.R1574Q Substitution - Missense Endometrium COSM1741415 PHF3 c.2596C>T p.R866W Substitution - Missense Urinary_tract COSM1211728 KDM3B c.3939A>G p.I1313M Substitution - Missense Large_intestine COSM5702522 BAP1 c.2079_2080insG p.Q694fs*23 Insertion - Frameshift Eye COSM5516011 CHD7 c.3198C>A p.P1066P Substitution - coding silent Biliary_tract COSM3724526 SMARCA4 c.2855_2855delA p.K953fs*4 Deletion - Frameshift Ovary COSM3514766 RAI1 c.3506C>T p.P1169L Substitution - Missense Skin COSM2270960 TET2 c.2123C>G p.S708* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM221406 CHD8 c.1213C>T p.Q405* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM330518 MLL5 c.2077A>T p.I693F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4669275 CARM1 c.419G>A p.R140Q Substitution - Missense Large_intestine COSM5708574 TBL1XR1 c.1183T>G p.Y395D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5606488 DOT1L c.4392C>T p.F1464F Substitution - coding silent Skin COSM1569706 SMARCA1 c.2351C>G p.P784R Substitution - Missense Large_intestine COSM1180918 ASXL1 c.1927delG p.G645fs*58 Deletion - Frameshift Large_intestine COSM4682139 EYA4 c.466G>T p.A156S Substitution - Missense Large_intestine COSM4796747 TRIM66 c.3019G>A p.G1007R Substitution - Missense Liver COSM3735164 CBX4 c.657_669del13 p.G222fs*8 Deletion - Frameshift Skin COSM365947 PRDM2 c.2392C>T p.P798S Substitution - Missense Stomach COSM1716769 TET2 c.? p.Q278* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4994897 SIRT1 c.568C>A p.Q190K Substitution - Missense Upper_aerodigestive_tract COSM1583118 DNMT3A c.2344_2353del10 p.A782fs*17 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3356919 EZH1 c.1965C>T p.R655R Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3692782 SIRT6 c.924C>G p.N308K Substitution - Missense Soft_tissue COSM4622146 ASH1L c.4647A>G p.L1549L Substitution - coding silent Large_intestine COSM88749 CREBBP c.4336C>T p.R1446C Substitution - Missense Salivary_gland COSM88749 CREBBP c.4336C>T p.R1446C Substitution - Missense Salivary_gland COSM13394 MSH6 c.3261_3262insC p.F1088fs*5 Insertion - Frameshift Stomach COSM1709976 NCOR1 c.2071C>T p.R691C Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3987863 SETD3 c.138G>A p.E46E Substitution - coding silent Kidney COSM3398777 KMT2D c.389G>A p.G130E Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1740833 KDM6A c.1425+2T>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3871734 KMT2D c.5447A>G p.K1816R Substitution - Missense Skin COSM3474984 ASH1L c.296C>T p.P99L Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM52819 PBRM1 c.3639delA p.E1214fs*4 Deletion - Frameshift Kidney COSM5915686 KMT2C c.10747C>T p.P3583S Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM324798 BAZ2B c.119C>T p.S40L Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4664611 ATRX c.7143G>A p.E2381E Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4387454 BAP1 c.438-2A>G p.? Unknown Pleura COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1479304 RAI1 c.832_834delCAG p.Q291delQ Deletion - In frame Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4146743 SETD1B c.587A>C p.D196A Substitution - Missense Thyroid COSM87171 TET2 c.4501C>T p.Q1501* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3749492 DOT1L c.4156G>A p.G1386S Substitution - Missense Thyroid COSM3833690 ZCWPW1 c.1801A>G p.S601G Substitution - Missense Breast COSM4592287 SP140_ENST00000392045 c.1948C>G p.P650A Substitution - Missense Upper_aerodigestive_tract COSM3833583 TRRAP c.6177G>A p.S2059S Substitution - coding silent Breast COSM1606202 KMT2D c.11405A>G p.D3802G Substitution - Missense Liver COSM4675312 CTCF c.1999+1G>A p.? Unknown Large_intestine COSM5744880 RING1 c.842C>T p.T281M Substitution - Missense Pancreas COSM6008295 BPTF c.4005G>C p.E1335D Substitution - Missense Prostate COSM5755682 BRWD1 c.3721G>A p.E1241K Substitution - Missense Large_intestine COSM4611109 SMYD5 c.844_849delGAGGAG p.E286_E287delEE Deletion - In frame Large_intestine COSM451983 ACTL6B c.583delG p.A195fs*25 Deletion - Frameshift Breast COSM1061345 KDM3B c.3003C>T p.L1001L Substitution - coding silent Endometrium COSM5688063 PRDM1 c.497G>A p.R166Q Substitution - Missense Soft_tissue COSM4383970 TET2 c.5641C>T p.H1881Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5474329 PRDM15 c.2978G>A p.S993N Substitution - Missense Large_intestine COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5940814 SMCHD1 c.1307C>T p.S436F Substitution - Missense Skin COSM33732 IDH2 c.515G>T p.R172M Substitution - Missense Soft_tissue COSM5616899 RAI1 c.3006G>T p.R1002R Substitution - coding silent Lung COSM1465512 SMARCA1 c.794G>T p.G265V Substitution - Missense Large_intestine COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM1328198 SETD2 c.5080G>C p.V1694L Substitution - Missense Ovary COSM3672357 NCOR1 c.4573C>T p.Q1525* Substitution - Nonsense Prostate COSM1607780 ARID4A c.1436C>A p.S479Y Substitution - Missense Liver COSM5512572 TAF1L c.396C>A p.P132P Substitution - coding silent Biliary_tract COSM3988372 GTF3C1 c.498G>A p.E166E Substitution - coding silent Kidney COSM4144892 TAF3 c.2739G>A p.A913A Substitution - coding silent Thyroid COSM4693845 JMJD1C c.2738A>C p.N913T Substitution - Missense Large_intestine COSM1742318 SND1 c.2473C>G p.Q825E Substitution - Missense Urinary_tract COSM215741 INO80C c.32C>G p.T11S Substitution - Missense Central_nervous_system COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM21759 ARID1A c.2064C>T p.H688H Substitution - coding silent Skin COSM85911 IKZF1 c.161-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51429 ARID1A c.6415_6415delC p.F2141fs*59 Deletion - Frameshift Ovary COSM53091 DNMT3A c.943_943delA p.M315fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM71701 MTA2 c.339G>T p.E113D Substitution - Missense Ovary COSM71279 KDM3B c.2543A>G p.N848S Substitution - Missense Central_nervous_system COSM95402 TRIM28 c.1846G>A p.G616S Substitution - Missense Kidney COSM87088 TET2 c.1753_1753delT p.S585fs*16 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM87130 TET2 c.3781C>T p.R1261C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM124348 MBD5 c.3253G>A p.V1085I Substitution - Missense Upper_aerodigestive_tract COSM196956 BRWD3 c.4988G>T p.R1663I Substitution - Missense Large_intestine COSM211878 CTCF c.148G>C p.V50L Substitution - Missense Breast COSM234108 SMARCA2 c.2884-10T>G p.? Unknown Skin COSM270689 BRD4 c.625C>G p.Q209E Substitution - Missense Large_intestine COSM287292 GLYR1 c.1140_1141insG p.R381fs*15 Insertion - Frameshift Large_intestine COSM316131 TIF1 c.2458G>C p.V820L Substitution - Missense Soft_tissue COSM312122 JMJD6 c.463T>G p.F155V Substitution - Missense Lung COSM306097 SMNDC1 c.275C>T p.A92V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM336250 KDM1B c.1447G>A p.G483R Substitution - Missense Lung COSM345529 SETD2 c.3507-1G>C p.? Unknown Lung COSM423824 POGZ c.3926T>C p.L1309P Substitution - Missense Breast COSM416924 TP53BP1 c.337C>A p.Q113K Substitution - Missense Urinary_tract COSM488575 TAF1 c.2359C>T p.P787S Substitution - Missense Kidney COSM916610 SUV39H2 c.423T>C p.C141C Substitution - coding silent Endometrium COSM944340 PHC1 c.2385G>A p.A795A Substitution - coding silent Oesophagus COSM1021890 SMEK2 c.1585C>A p.L529I Substitution - Missense Endometrium COSM717296 BAZ2B c.143G>A p.C48Y Substitution - Missense Lung COSM731056 PBRM1 c.733A>T p.I245F Substitution - Missense Lung COSM908102 PRDM16 c.131C>T p.S44L Substitution - Missense Endometrium COSM896951 ASH1L c.229G>T p.E77* Substitution - Nonsense Endometrium COSM935971 HNF1A c.392G>A p.R131Q Substitution - Missense Endometrium COSM1034571 EP300 c.4933C>T p.R1645* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1038802 HDAC11 c.638G>A p.R213H Substitution - Missense Endometrium COSM971268 BRD7 c.526A>G p.M176V Substitution - Missense Endometrium COSM1125861 BRWD3 c.1939C>A p.L647I Substitution - Missense Endometrium COSM1085995 TIF1 c.1406G>A p.R469Q Substitution - Missense Endometrium COSM1184911 BRD8 c.118G>A p.V40I Substitution - Missense Large_intestine COSM1180905 HDAC4 c.2703delC p.M902fs*55 Deletion - Frameshift Large_intestine COSM1583147 DNMT3A c.2526G>T p.Q842H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1262046 PHF20 c.2887G>C p.E963Q Substitution - Missense Stomach COSM1179698 EYA1 c.1107G>T p.L369F Substitution - Missense Prostate COSM1159121 SETBP1 c.3973_3981delAGTTCTTAT p.S1325_YdelSSY Deletion - In frame Pancreas COSM1193550 HDAC9 c.67C>A p.P23T Substitution - Missense Lung COSM1324135 RAI1 c.840G>A p.Q280Q Substitution - coding silent Skin COSM1318938 DNMT3A c.2186G>A p.R729Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1377471 SRCAP c.4001C>T p.P1334L Substitution - Missense Stomach COSM1400336 BAZ2B c.4005G>T p.E1335D Substitution - Missense Large_intestine COSM1416632 TCF20 c.364_365insC p.Q122fs*12 Insertion - Frameshift Large_intestine COSM1462650 KIAA2026_ENST00000399933 c.2187delA p.A730fs*26 Deletion - Frameshift Large_intestine COSM1355020 PHRF1 c.1116A>G p.Q372Q Substitution - coding silent Large_intestine COSM1363756 CHD4 c.1971G>A p.E657E Substitution - coding silent Large_intestine COSM1560417 TDRD5 c.1229_1230insA p.Q413fs*13 Insertion - Frameshift Large_intestine COSM1491106 PHF8 c.1148G>A p.R383Q Substitution - Missense Breast COSM1478725 GTF3C1 c.287A>T p.D96V Substitution - Missense Breast COSM1614598 HDAC4 c.2855-8C>A p.? Unknown Liver COSM1626105 TAF1 c.3224+8G>A p.? Unknown Liver COSM1622169 MLL5 c.4578A>G p.Q1526Q Substitution - coding silent Liver COSM1709450 CDYL2 c.772G>A p.E258K Substitution - Missense Skin COSM1716896 ASXL1 c.2463_2464insA p.T822fs*11 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1753138 KAT2B c.1844G>T p.G615V Substitution - Missense Urinary_tract COSM1742844 BAZ2A c.3706A>G p.M1236V Substitution - Missense Biliary_tract COSM1756576 KDM6A c.3685C>T p.Q1229* Substitution - Nonsense Urinary_tract COSM1752417 SP140_ENST00000392045 c.2581C>T p.Q861* Substitution - Nonsense Urinary_tract COSM1724236 PRDM8 c.634_636delCAG p.Q217delQ Deletion - In frame Skin COSM1724237 PRMT8 c.91T>C p.S31P Substitution - Missense Skin COSM2813591 SMARCA4 c.2057_2059delAGA p.K689delK Deletion - In frame Breast COSM2828731 SETD5_ENST00000402198 c.267A>T p.V89V Substitution - coding silent Upper_aerodigestive_tract COSM3266891 ACTB c.642G>A p.E214E Substitution - coding silent Oesophagus COSM3296120 MBD5 c.1171A>G p.M391V Substitution - Missense Upper_aerodigestive_tract COSM3300318 BAZ2B c.589A>G p.M197V Substitution - Missense Upper_aerodigestive_tract COSM3364301 EPC2 c.217G>A p.V73I Substitution - Missense Kidney COSM3393520 PRDM9 c.591G>A p.P197P Substitution - coding silent Central_nervous_system COSM3412547 TRRAP c.9082G>A p.A3028T Substitution - Missense Central_nervous_system COSM3505549 CHD2 c.4396C>A p.Q1466K Substitution - Missense Skin COSM3421572 KAT2A c.641G>A p.R214Q Substitution - Missense Large_intestine COSM3433363 PHF2 c.3269G>A p.R1090Q Substitution - Missense Large_intestine COSM3463561 BAZ2A_ENST00000379441 c.83C>T p.S28F Substitution - Missense Skin COSM3461539 KMT2D c.11782C>G p.R3928G Substitution - Missense Skin COSM3620158 NCOA7 c.146T>C p.V49A Substitution - Missense Skin COSM3622301 ARID1B c.6310C>T p.R2104C Substitution - Missense Skin COSM3636489 KMT2C c.8447C>T p.S2816F Substitution - Missense Skin COSM3614506 NSD1 c.3309C>T p.D1103D Substitution - coding silent Skin COSM3615200 PRDM9 c.698G>A p.G233E Substitution - Missense Skin COSM3580136 ING5 c.693G>A p.R231R Substitution - coding silent Skin COSM3709671 MSH6 c.3134A>C p.K1045T Substitution - Missense Liver COSM3813528 ZMYM2 c.2440C>T p.P814S Substitution - Missense Breast COSM3864841 KDM1A c.1021C>T p.R341C Substitution - Missense Skin COSM3936251 MPHOSPH8 c.486G>C p.E162D Substitution - Missense Oesophagus COSM3829019 L3MBTL3 c.273A>C p.P91P Substitution - coding silent Breast COSM3833691 ZCWPW1 c.1621C>T p.P541S Substitution - Missense Breast COSM3845406 ATRX c.2266G>A p.E756K Substitution - Missense Breast COSM3822536 DOT1L c.2712G>T p.V904V Substitution - coding silent Breast COSM3906837 TAF1L c.4796T>G p.V1599G Substitution - Missense Stomach COSM3949384 PHF3 c.744G>T p.V248V Substitution - coding silent Lung COSM4119259 SFMBT1 c.97G>T p.A33S Substitution - Missense Stomach COSM4134606 EYA2 c.1160T>G p.V387G Substitution - Missense Upper_aerodigestive_tract COSM4129608 NCOR1 c.571G>A p.E191K Substitution - Missense Upper_aerodigestive_tract COSM4150133 KMT2D c.1444G>T p.A482S Substitution - Missense Ovary COSM4170757 CREBBP c.4307G>T p.S1436I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4385233 EP300 c.312G>A p.M104I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4408969 SMARCA2 c.4638C>G p.D1546E Substitution - Missense Soft_tissue COSM4595395 AP001011.3_ENST00000320876 c.46A>G p.T16A Substitution - Missense Upper_aerodigestive_tract COSM4533140 CTCF c.1950G>A p.K650K Substitution - coding silent Skin COSM4431020 MYST3 c.4614A>G p.V1538V Substitution - coding silent Oesophagus COSM4586654 DAXX c.688C>G p.R230G Substitution - Missense Bone COSM4487872 ZBTB4 c.323C>T p.S108F Substitution - Missense Skin COSM4506693 GATAD2A c.297C>T p.V99V Substitution - coding silent Skin COSM4447106 SET c.811-3C>T p.? Unknown Skin COSM4479919 TRIM66 c.2370C>T p.S790S Substitution - coding silent Skin COSM4725124 SET c.565T>C p.F189L Substitution - Missense Large_intestine COSM4736795 TRRAP c.10901C>T p.T3634M Substitution - Missense Large_intestine COSM4704132 MUM1 c.823G>A p.G275S Substitution - Missense Large_intestine COSM4609845 KDM5C c.2438_2439delAG p.Q813fs*8 Deletion - Frameshift Adrenal_gland COSM4639876 PRMT8 c.199C>T p.P67S Substitution - Missense Large_intestine COSM4606367 PHF6 c.385C>T p.R129* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4753650 MGA c.7448G>A p.R2483Q Substitution - Missense Stomach COSM4798861 HDGFL1 c.5C>A p.S2* Substitution - Nonsense Liver COSM4825794 CXXC1 c.1414-1G>C p.? Unknown Cervix COSM4955778 SETD5_ENST00000402198 c.2553G>A p.L851L Substitution - coding silent Liver COSM4967655 SND1 c.1872G>T p.E624D Substitution - Missense Pancreas COSM4990246 KMT2D c.9466A>T p.K3156* Substitution - Nonsense Skin COSM4987204 NSD1 c.1840G>T p.V614L Substitution - Missense Soft_tissue COSM5369887 ARID1A c.4544_4553del10 p.G1515fs*9 Deletion - Frameshift Cervix COSM5400091 SETD5_ENST00000402198 c.2506T>C p.S836P Substitution - Missense Skin COSM5410917 SMARCA2 c.279C>T p.S93S Substitution - coding silent Skin COSM5392891 BRWD1 c.2384A>G p.Q795R Substitution - Missense Skin COSM5508241 ZMYM3 c.1077G>C p.E359D Substitution - Missense Biliary_tract COSM5431591 PHF15 c.212C>T p.P71L Substitution - Missense Oesophagus COSM5718761 BPTF c.3304C>T p.L1102F Substitution - Missense Skin COSM5722492 CDYL2 c.62G>A p.G21E Substitution - Missense Skin COSM5731083 SMARCA4 c.3890C>T p.P1297L Substitution - Missense Breast COSM5604481 PHC3 c.2227T>G p.S743A Substitution - Missense Skin COSM5664622 GLYR1 c.722T>C p.I241T Substitution - Missense Soft_tissue COSM5672993 TAF1L c.1791G>A p.Q597Q Substitution - coding silent Soft_tissue COSM5686979 CHD3 c.2468G>T p.R823L Substitution - Missense Soft_tissue COSM5834286 HAT1 c.616delG p.E206fs*14 Deletion - Frameshift Breast COSM5800536 PRDM13 c.1141C>G p.P381A Substitution - Missense Breast COSM5823727 SMYD1 c.977A>T p.H326L Substitution - Missense Liver COSM5931223 BAP1 c.1838C>T p.T613M Substitution - Missense Skin COSM6016763 SMARCD2 c.1330C>T p.Q444* Substitution - Nonsense Skin COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM914360 ASXL1 c.? p.T822* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM43409 TET2 c.? p.?fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4766082 ATRX c.? p.K1045fs*1 Frameshift Central_nervous_system COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM43507 TET2 c.? p.Y1255* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM53238 TET2 c.? p.Q1138* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1583078 DNMT3A c.1583_1585delACG p.D529del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM2067836 ARID2 c.2802A>G p.Q934Q Substitution - coding silent Large_intestine COSM3637020 HDAC9 c.1258C>T p.P420S Substitution - Missense Skin COSM4016196 TAF3 c.917C>T p.S306F Substitution - Missense Stomach COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM1116463 FMR1 c.831C>A p.S277R Substitution - Missense Endometrium COSM909994 DMAP1 c.502G>C p.D168H Substitution - Missense Endometrium COSM4720571 RBBP4 c.565C>T p.L189F Substitution - Missense Large_intestine COSM429983 EED c.619C>T p.L207L Substitution - coding silent Soft_tissue COSM3972138 HDAC4 c.3027C>T p.P1009P Substitution - coding silent Central_nervous_system COSM4015108 JMJD1C c.3902G>A p.S1301N Substitution - Missense Stomach COSM727028 EP300 c.4241A>G p.Y1414C Substitution - Missense Ovary COSM894174 TRIM33 c.2903G>A p.R968H Substitution - Missense Endometrium COSM224300 RING1 c.641G>A p.G214E Substitution - Missense Skin COSM41644 TET2 c.1648C>T p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1168018 TET2 c.2518_2518delC p.L840fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4713921 PHF12 c.1767G>A p.A589A Substitution - coding silent Large_intestine COSM1183856 ATAD2 c.2725G>T p.E909* Substitution - Nonsense Large_intestine COSM371252 JMJD1C c.2441C>T p.A814V Substitution - Missense Lung COSM3723732 STK31 c.2328C>G p.T776T Substitution - coding silent Upper_aerodigestive_tract COSM350671 PCGF1 c.252C>G p.L84L Substitution - coding silent Lung COSM5719425 TDRD5 c.2886G>T p.R962R Substitution - coding silent Skin COSM3008237 PRDM5 c.532A>T p.S178C Substitution - Missense Oesophagus COSM5063431 TDRD7 c.2187C>T p.S729S Substitution - coding silent Stomach COSM3699500 GTF3C4 c.1681T>C p.L561L Substitution - coding silent Large_intestine COSM82383 SND1 c.2382G>C p.T794T Substitution - coding silent Ovary COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM5771304 SP110 c.1967C>A p.T656K Substitution - Missense Breast COSM1262965 PRDM9 c.281A>C p.E94A Substitution - Missense Stomach COSM3528445 SMARCA4 c.4410C>T p.I1470I Substitution - coding silent Skin COSM1298233 GLYATL1 c.372G>T p.E124D Substitution - Missense Urinary_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM1637931 CHD9 c.3268delT p.L1090fs*11 Deletion - Frameshift Bone COSM32743 BAG6 c.3381+3C>G p.? Unknown Breast COSM1716789 TET2 c.2440C>T p.R814C Substitution - Missense Pancreas COSM398388 NCOA2 c.4352A>T p.D1451V Substitution - Missense Lung COSM27398 HNF1A c.1108-1G>T p.? Unknown Endometrium COSM334956 PHF2 c.3162G>T p.R1054R Substitution - coding silent Lung COSM5780937 NCOA6 c.1441C>T p.Q481* Substitution - Nonsense Breast COSM5671909 TAF1L c.57C>A p.I19I Substitution - coding silent Soft_tissue COSM71237 JMJD6 c.185G>T p.R62L Substitution - Missense Ovary COSM6011069 ATXN7 c.2361C>T p.S787S Substitution - coding silent Skin COSM3650074 CHD7 c.3655C>T p.R1219* Substitution - Nonsense Skin COSM5878645 ATRX c.1-?_6326+?del p.? Unknown Central_nervous_system COSM240325 KDM3A c.3267C>G p.N1089K Substitution - Missense Prostate COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM2810319 ASXL3 c.1178C>T p.S393L Substitution - Missense Large_intestine COSM3567449 MBD5 c.2089C>T p.P697S Substitution - Missense Skin COSM271296 HDAC9 c.122T>A p.V41D Substitution - Missense Large_intestine COSM6018467 HDAC6 c.765C>T p.H255H Substitution - coding silent Skin COSM5002083 ZBTB38 c.955T>G p.S319A Substitution - Missense Pancreas COSM1067094 PRDM9 c.2496T>C p.Y832Y Substitution - coding silent Bone COSM3716945 BRD7 c.274C>T p.R92* Substitution - Nonsense Liver COSM5702597 NSD1 c.7147G>T p.G2383C Substitution - Missense Central_nervous_system COSM396308 CHD7 c.8294A>T p.Q2765L Substitution - Missense Lung COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM5606329 ASH1L c.155G>A p.R52Q Substitution - Missense Skin COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1162010 MPHOSPH8 c.2458-2A>T p.? Unknown Kidney COSM4169537 TET2 c.? p.M695fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM347987 PRDM15 c.3024G>A p.L1008L Substitution - coding silent Lung COSM3748811 FXR1 c.1186A>C p.T396P Substitution - Missense Stomach COSM4617833 SIRT7 c.1114C>T p.R372W Substitution - Missense Large_intestine COSM256034 DNMT3A c.2396C>G p.P799R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM150428 KMT2C c.2958A>G p.P986P Substitution - coding silent Soft_tissue COSM277378 SMARCA2 c.4261C>T p.R1421* Substitution - Nonsense Large_intestine COSM1757284 ZMYM3 c.1199C>G p.S400C Substitution - Missense Urinary_tract COSM4514643 CBX2 c.982C>T p.P328S Substitution - Missense Skin COSM4040235 EP400 c.2220T>G p.T740T Substitution - coding silent Stomach COSM3355772 ARID1A c.3855_3861delTGACAGA p.Y1285fs*1 Deletion - Frameshift Breast COSM260098 CHD9 c.1982C>A p.S661Y Substitution - Missense Large_intestine COSM3787047 RAG2 c.688C>G p.P230A Substitution - Missense Pancreas COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5940023 ERCC6 c.1621C>T p.Q541* Substitution - Nonsense Skin COSM3732990 ARID1A c.5192T>A p.L1731* Substitution - Nonsense Stomach COSM3396545 ATXN7 c.2301G>A p.A767A Substitution - coding silent Prostate COSM972490 CTCF c.1342C>T p.R448* Substitution - Nonsense Endometrium COSM2152987 BMI1 c.552C>T p.D184D Substitution - coding silent Central_nervous_system COSM1194937 HDAC1 c.229C>T p.R77C Substitution - Missense Lung COSM1409883 SMYD1 c.1184C>T p.A395V Substitution - Missense Large_intestine COSM4453198 KDM5A c.2636A>T p.D879V Substitution - Missense Skin COSM5159086 PHC3 c.2459G>A p.R820H Substitution - Missense Large_intestine COSM920007 SFMBT2 c.1959C>T p.C653C Substitution - coding silent Endometrium COSM1372664 BAHD1 c.1222G>A p.A408T Substitution - Missense Large_intestine COSM3636473 KMT2C c.11363C>T p.S3788F Substitution - Missense Skin COSM3365845 BRD8 c.2081C>T p.S694L Substitution - Missense Kidney COSM4654083 BAG6 c.476A>C p.Q159P Substitution - Missense Large_intestine COSM41712 ASXL1 c.2535_2536insC p.S846fs*5 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5999814 GLYATL1 c.552T>G p.A184A Substitution - coding silent Prostate COSM235289 RNF17 c.693A>G p.E231E Substitution - coding silent Skin COSM5351678 TET2 c.1471C>A p.Q491K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5569882 BRD1 c.1166C>T p.T389M Substitution - Missense Prostate COSM1608341 RTF1 c.650+4A>G p.? Unknown Liver COSM1408307 MSH6 c.3071G>A p.R1024Q Substitution - Missense Large_intestine COSM1611163 AP001011.3_ENST00000320876 c.4115A>G p.N1372S Substitution - Missense Liver COSM5566138 SMYD1 c.1384C>T p.R462C Substitution - Missense Prostate COSM4480936 EYA1 c.246C>T p.F82F Substitution - coding silent Skin COSM2235456 ARID1A c.2291delC p.Q766fs*67 Deletion - Frameshift Endometrium COSM3705561 LBR c.935C>G p.S312C Substitution - Missense Liver COSM1046992 BAP1 c.1484C>T p.T495M Substitution - Missense Salivary_gland COSM3615198 PRDM9 c.630C>A p.N210K Substitution - Missense Skin COSM450795 ARID1B c.2187delT p.Q730fs*44 Deletion - Frameshift Breast COSM6012802 ACTL6B c.468-8G>A p.? Unknown Skin COSM51997 TET2 c.? p.S1292R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3637535 STK31 c.507G>A p.L169L Substitution - coding silent Skin COSM4584402 SETD2 c.3985A>T p.T1329S Substitution - Missense Bone COSM4021540 PRDM2 c.1082C>T p.P361L Substitution - Missense Stomach COSM4900150 TDRD3 c.1003C>T p.R335C Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1465253 ZBTB33 c.1569G>T p.P523P Substitution - coding silent Large_intestine COSM126804 KMT2D c.2653G>T p.E885* Substitution - Nonsense Breast COSM5805446 ZMYND8 c.3393A>T p.T1131T Substitution - coding silent Liver COSM4832126 KDM5A c.3948C>T p.F1316F Substitution - coding silent Cervix COSM2965383 KDM6A c.2260A>G p.M754V Substitution - Missense Upper_aerodigestive_tract COSM5414356 BAZ2A c.205C>T p.L69F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3508222 GTF3C1 c.3700+2T>C p.? Unknown Skin COSM1442453 HDGFL1 c.377G>A p.G126D Substitution - Missense Large_intestine COSM3377314 BRDT c.2330C>A p.P777Q Substitution - Missense Pancreas COSM398939 INOC1 c.3555C>A p.L1185L Substitution - coding silent Lung COSM3551327 DNMT3L c.249C>T p.A83A Substitution - coding silent Skin COSM1704967 CHD4 c.4091C>T p.S1364F Substitution - Missense Skin COSM5878782 DNMT3A c.2095G>T p.G699C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1640599 SMYD4 c.1212C>T p.I404I Substitution - coding silent Stomach COSM26816 MSH6 c.2731C>T p.R911* Substitution - Nonsense Central_nervous_system COSM206736 ASH1L c.8683delA p.T2895fs*44 Deletion - Frameshift Oesophagus COSM233098 PHF2 c.296C>T p.P99L Substitution - Missense Skin COSM3435841 PWWP2B c.1185C>T p.P395P Substitution - coding silent Skin COSM3555276 PHF21B c.215T>C p.V72A Substitution - Missense Skin COSM750337 MYST3 c.1340C>G p.S447* Substitution - Nonsense Lung COSM4460792 SMARCA2 c.117C>G p.S39S Substitution - coding silent Skin COSM910649 ORC1 c.1656G>A p.Q552Q Substitution - coding silent Endometrium COSM4118096 SMARCC1 c.1869G>A p.W623* Substitution - Nonsense Stomach COSM5600200 PHF17 c.984C>T p.C328C Substitution - coding silent Skin COSM728093 ZBTB38 c.2088G>C p.L696F Substitution - Missense Lung COSM3734738 ARID1A c.? p.E1767* Substitution - Nonsense Urinary_tract COSM3378798 UHRF1 c.1737C>T p.P579P Substitution - coding silent Pancreas COSM5650423 SFMBT2 c.2084G>A p.R695Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5929010 ATAD2 c.995G>A p.R332K Substitution - Missense Skin COSM4487013 PYGO2 c.312C>T p.F104F Substitution - coding silent Skin COSM3864721 ACTA1 c.446G>A p.R149K Substitution - Missense Skin COSM1713478 CHD6 c.2729G>A p.R910Q Substitution - Missense Skin COSM42006 TET2 c.3500+3A>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM972484 CTCF c.1061C>T p.S354F Substitution - Missense Breast COSM1608333 INOC1 c.2324A>G p.Y775C Substitution - Missense Liver COSM211734 TET2 c.4579C>T p.Q1527* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3620820 EYA4 c.1273G>A p.D425N Substitution - Missense Skin COSM5734307 TDRD6 c.457G>A p.D153N Substitution - Missense Pancreas COSM1378308 CHD9 c.1219G>A p.E407K Substitution - Missense Large_intestine COSM1644335 ARID1A c.5541_5542insG p.D1850fs*4 Insertion - Frameshift Salivary_gland COSM52951 DNMT3A c.? p.A741V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4606550 SETD2 c.?_?insAG p.K1466fs*? Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5992312 BRDT c.2288-8G>A p.? Unknown Prostate COSM1583126 DNMT3A c.2551_2552delTT p.F851fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1756982 SMARCA4 c.1948G>C p.E650Q Substitution - Missense Urinary_tract COSM5826522 PHF2 c.2955_2956ins15 p.T996_S997insTPAST Insertion - In frame Large_intestine COSM3790817 ERCC6 c.190G>A p.A64T Substitution - Missense Urinary_tract COSM3537026 KDM4B c.264C>T p.I88I Substitution - coding silent Skin COSM393854 TAF1L c.29G>T p.R10M Substitution - Missense Lung COSM1211761 KDM5A c.1406C>A p.P469Q Substitution - Missense Stomach COSM5358111 TRIM24 c.767A>G p.Y256C Substitution - Missense Large_intestine COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3485389 KDM1A c.378C>T p.S126S Substitution - coding silent Skin COSM88025 SMARCA4 c.2729C>T p.T910M Substitution - Missense Biliary_tract COSM5414917 PHF3 c.4602A>C p.T1534T Substitution - coding silent Breast COSM5695747 CHD9 c.4628A>G p.Y1543C Substitution - Missense Soft_tissue COSM5963794 KMT2C c.4996G>T p.E1666* Substitution - Nonsense Breast COSM1602157 ARID1A c.6393T>G p.N2131K Substitution - Missense Liver COSM1464314 TDRD7 c.3121C>T p.R1041* Substitution - Nonsense Large_intestine COSM902724 RBBP5 c.685G>T p.E229* Substitution - Nonsense Endometrium COSM74870 HCFC1 c.1933A>G p.S645G Substitution - Missense Ovary COSM87128 TET2 c.3729_3729delA p.K1243fs*10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1048020 ATXN7 c.1485C>T p.G495G Substitution - coding silent Stomach COSM1717433 BAP1 c.? p.H141P Substitution - Missense Biliary_tract COSM4618887 PHF2 c.419C>T p.P140L Substitution - Missense Large_intestine COSM5017342 PHRF1 c.2803_2804insC p.E938fs*5 Insertion - Frameshift Soft_tissue COSM1659062 KMT2C c.7207C>T p.R2403* Substitution - Nonsense Cervix COSM919523 JMJD1C c.263G>T p.R88I Substitution - Missense Endometrium COSM1746979 ARID2 c.2337A>T p.V779V Substitution - coding silent Urinary_tract COSM1352562 PRDM10 c.2958C>T p.T986T Substitution - coding silent Large_intestine COSM1314130 CHD7 c.34G>A p.E12K Substitution - Missense Urinary_tract COSM3508907 SRCAP c.5454C>T p.S1818S Substitution - coding silent Skin COSM127803 DIDO1 c.1740A>C p.T580T Substitution - coding silent Skin COSM1027961 ADNP c.3221G>T p.G1074V Substitution - Missense Endometrium COSM5947664 KMT2D c.9692delT p.V3231fs*25 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM444516 PRDM15 c.3963C>T p.S1321S Substitution - coding silent Breast COSM127803 DIDO1 c.1740A>C p.T580T Substitution - coding silent Thyroid COSM4771082 ZMYND8 c.1037A>G p.K346R Substitution - Missense Pleura COSM5944934 DNMT3A c.2056G>C p.D686H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5004586 MSH6 c.1444C>T p.R482* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1248221 CHD7 c.5029C>G p.R1677G Substitution - Missense Oesophagus COSM4896899 KDM3B c.3966C>T p.S1322S Substitution - coding silent Skin COSM1443049 ATAT1 c.2T>G p.M1R Substitution - Missense Large_intestine COSM1047000 PHF7 c.206C>A p.P69H Substitution - Missense Stomach COSM3816131 TP53BP1 c.4994C>T p.S1665L Substitution - Missense Breast COSM1018605 ATAD2B_ENST00000238789 c.4008A>C p.E1336D Substitution - Missense Endometrium COSM3723034 PHF2 c.2976C>A p.T992T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1666677 SETBP1 c.? p.E645K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144496 IDH2 c.? p.R172S Substitution - Missense Soft_tissue COSM1606200 KMT2D c.14407C>T p.Q4803* Substitution - Nonsense Liver COSM1462171 KIAA1045 c.227G>A p.R76H Substitution - Missense Large_intestine COSM947866 SETDB2 c.603C>T p.N201N Substitution - coding silent Endometrium COSM5124054 CHD9 c.4282delA p.K1429fs*4 Deletion - Frameshift Large_intestine COSM1103016 TDRD7 c.3038G>A p.R1013Q Substitution - Missense Endometrium COSM2156881 CDYL2 c.401C>T p.T134M Substitution - Missense Central_nervous_system COSM1469582 BRWD3 c.4572C>T p.F1524F Substitution - coding silent Large_intestine COSM1618154 BRPF1 c.1577A>G p.N526S Substitution - Missense Liver COSM1963647 MGA c.6858G>A p.L2286L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM2881340 L3MBTL4 c.1490C>T p.A497V Substitution - Missense Large_intestine COSM5495182 CREBBP c.1052G>T p.R351L Substitution - Missense Biliary_tract COSM399613 KAT6B c.1614C>T p.S538S Substitution - coding silent Lung COSM3718424 MEN1 c.1025C>T p.A342V Substitution - Missense Upper_aerodigestive_tract COSM5584914 CREBBP c.2488C>T p.P830S Substitution - Missense Skin COSM3450159 PHRF1 c.219C>T p.S73S Substitution - coding silent Skin COSM4911714 ATAD2B_ENST00000238789 c.3952C>A p.P1318T Substitution - Missense Liver COSM4592311 JARID2 c.2084C>G p.A695G Substitution - Missense Upper_aerodigestive_tract COSM1395304 PRMT1 c.213C>T p.V71V Substitution - coding silent Large_intestine COSM4648029 KAT2A c.1540C>T p.R514W Substitution - Missense Large_intestine COSM5007664 CHD4 c.2966T>C p.I989T Substitution - Missense Large_intestine COSM300626 PYGO1 c.1045G>A p.E349K Substitution - Missense Pancreas COSM394061 HELLS c.190C>G p.R64G Substitution - Missense Lung COSM5730162 EYA2 c.396_397insTACACC p.Y135_Q136insTY Insertion - In frame Skin COSM5548412 MBD5 c.3355G>T p.A1119S Substitution - Missense Prostate COSM954415 CHD8 c.7060C>A p.L2354I Substitution - Missense Endometrium COSM87002 DNMT3A c.1627G>T p.G543C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3382757 PWWP2B c.1691G>A p.R564Q Substitution - Missense Pancreas COSM5433743 ATRX c.5787-5_5787-4insGTTT p.? Unknown Oesophagus COSM4498827 TDRKH c.528C>T p.I176I Substitution - coding silent Skin COSM88208 IDH1 c.299G>A p.R100Q Substitution - Missense Large_intestine COSM3840989 ACTR5 c.467A>G p.Y156C Substitution - Missense Breast COSM4695480 KIAA1045 c.841C>T p.R281C Substitution - Missense Large_intestine COSM13394 MSH6 c.3261_3262insC p.F1088fs*5 Insertion - Frameshift Large_intestine COSM265333 BRPF3 c.762G>T p.W254C Substitution - Missense Large_intestine COSM133723 DNMT3A c.2255_2257delTCT p.F752del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM484378 PHIP c.5183A>C p.D1728A Substitution - Missense Kidney COSM4419863 MTA2 c.373-6T>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3415175 JMJD1C c.446G>A p.R149Q Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM989 SMARCB1 c.1130G>A p.R377H Substitution - Missense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1223277 RBBP4 c.143A>G p.Q48R Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5048743 ATAD2 c.3247G>C p.D1083H Substitution - Missense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5788728 HDAC7 c.1916G>A p.R639H Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3618958 CHD1 c.2088C>T p.R696R Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5685158 SUV420H1 c.1939G>T p.G647C Substitution - Missense Soft_tissue COSM5083538 SP140_ENST00000392045 c.1720+3delA p.? Unknown Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM397228 ZBTB38 c.3G>A p.M1I Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1333895 SETDB1 c.2767C>T p.R923W Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM99740 DNMT3A c.2645G>C p.R882P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4111262 BRWD3 c.4177G>T p.D1393Y Substitution - Missense Stomach COSM5470057 BAZ2A_ENST00000379441 c.256A>C p.S86R Substitution - Missense Large_intestine COSM3488886 ZMYM4 c.1730T>C p.V577A Substitution - Missense Skin COSM3713737 EP300 c.511G>T p.A171S Substitution - Missense Upper_aerodigestive_tract COSM1221868 PRDM10 c.3091C>T p.Q1031* Substitution - Nonsense Large_intestine COSM1073636 SIRT5 c.249G>T p.Q83H Substitution - Missense Endometrium COSM3804983 PRDM16 c.1885G>A p.V629M Substitution - Missense Breast COSM4383970 TET2 c.5641C>T p.H1881Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5905081 SETBP1 c.1028T>G p.I343R Substitution - Missense Skin COSM3774021 ZBTB33 c.584T>A p.V195D Substitution - Missense Kidney COSM4762639 KMT2C c.4038G>C p.K1346N Substitution - Missense Stomach COSM23041 MEN1 c.? p.A284P Substitution - Missense Parathyroid COSM132968 ASXL1 c.? p.E635fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM4456319 CHD8 c.1005C>T p.A335A Substitution - coding silent Skin COSM52996 EZH2 c.619C>T p.R207* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM2153280 ZMYM3 c.1409T>C p.L470P Substitution - Missense Central_nervous_system COSM5021014 SMC1A c.2197-5T>C p.? Unknown Soft_tissue COSM87014 DNMT3A c.709C>T p.Q237* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5754981 RAI1 c.4550A>G p.Q1517R Substitution - Missense Large_intestine COSM234451 BRWD1 c.4065T>C p.D1355D Substitution - coding silent Skin COSM148078 CHD9 c.5406G>A p.Q1802Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM228063 PRDM9 c.1337G>A p.S446N Substitution - Missense Urinary_tract COSM991 SMARCB1 c.141C>A p.Y47* Substitution - Nonsense Soft_tissue COSM249802 DNMT3A c.1748G>A p.C583Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24902 HNF1A c.245_246ins14 p.P83fs*77 Insertion - Frameshift Liver COSM24938 HNF1A c.527-2A>G p.? Unknown Liver COSM85097 KMT2C c.5919G>T p.V1973V Substitution - coding silent Pancreas COSM85825 ATRX c.6829G>A p.E2277K Substitution - Missense Pancreas COSM75197 L3MBTL3 c.937G>A p.A313T Substitution - Missense Ovary COSM87182 TET2 c.5482C>T p.Q1828* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM110520 KAT6B c.4366C>T p.Q1456* Substitution - Nonsense Skin COSM110746 TET2 c.5486_5486delC p.P1829fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM112087 TDG c.286_287insA p.I98fs*6 Insertion - Frameshift Upper_aerodigestive_tract COSM221054 KMT2D c.13831C>T p.Q4611* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM148010 CREBBP c.2784G>A p.P928P Substitution - coding silent Stomach COSM147383 PRDM10 c.64G>A p.A22T Substitution - Missense Stomach COSM170469 ACTL6A c.1129C>T p.R377W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Prostate COSM251352 ARID1A c.315_334del20 p.N106fs*4 Deletion - Frameshift Liver COSM287292 GLYR1 c.1140_1141insG p.R381fs*15 Insertion - Frameshift Large_intestine COSM286073 TTF2 c.616G>A p.A206T Substitution - Missense Large_intestine COSM277634 TDRD1 c.2182G>A p.E728K Substitution - Missense Large_intestine COSM277278 SIRT1 c.1547G>A p.R516Q Substitution - Missense Large_intestine COSM316562 WHSC1 c.1596A>G p.I532M Substitution - Missense Lung COSM323612 SRCAP c.2988-1G>T p.? Unknown Lung COSM353008 CBX6 c.1027G>C p.A343P Substitution - Missense Lung COSM438518 SMARCA4 c.2484C>G p.S828S Substitution - coding silent Breast COSM451579 TDRD6 c.3449C>T p.A1150V Substitution - Missense Breast COSM471814 CHD9 c.6717T>C p.N2239N Substitution - coding silent Kidney COSM985387 KDM6B c.4384G>A p.V1462M Substitution - Missense Endometrium COSM981683 AKAP1 c.1559G>A p.C520Y Substitution - Missense Endometrium COSM677828 TDRD5 c.2788G>T p.D930Y Substitution - Missense Lung COSM939507 ARID2 c.3352C>T p.Q1118* Substitution - Nonsense Endometrium COSM717677 ATF2 c.922G>C p.E308Q Substitution - Missense Lung COSM1602146 ARID1A c.3909G>T p.G1303G Substitution - coding silent Liver COSM1034554 EP300 c.3853G>T p.E1285* Substitution - Nonsense Endometrium COSM1114763 SMARCA1 c.3044G>A p.R1015H Substitution - Missense Endometrium COSM1109483 KIAA2026_ENST00000399933 c.615G>A p.T205T Substitution - coding silent Large_intestine COSM1100797 CHD7 c.2552G>T p.R851I Substitution - Missense Endometrium COSM1246262 BRWD3 c.1847T>A p.L616H Substitution - Missense Oesophagus COSM1185008 BTAF1 c.4873G>A p.D1625N Substitution - Missense Large_intestine COSM1259601 NSD1 c.1446T>C p.D482D Substitution - coding silent Oesophagus COSM1221871 PRDM12 c.257C>T p.A86V Substitution - Missense Large_intestine COSM1161911 KDM5C c.4219delG p.D1407fs*5 Deletion - Frameshift Kidney COSM1187195 ARID1B c.1606C>T p.Q536* Substitution - Nonsense Lung COSM1187769 PHF2 c.2436G>T p.Q812H Substitution - Missense Lung COSM1158368 PRMT3 c.570T>A p.A190A Substitution - coding silent Pancreas COSM1604809 PHRF1 c.542A>G p.E181G Substitution - Missense Liver COSM1288107 SMYD1 c.668C>A p.A223E Substitution - Missense Autonomic_ganglia COSM1384427 MBTD1 c.605C>T p.T202I Substitution - Missense Large_intestine COSM1381119 NCOR1 c.6678G>T p.M2226I Substitution - Missense Large_intestine COSM1423574 SETD2 c.1439A>G p.E480G Substitution - Missense Liver COSM1434735 HDAC3 c.838G>A p.V280I Substitution - Missense Large_intestine COSM1443794 DAXX c.42C>T p.D14D Substitution - coding silent Large_intestine COSM1355052 PHRF1 c.1437C>T p.S479S Substitution - coding silent Large_intestine COSM1682027 AIRE c.230T>A p.F77Y Substitution - Missense Large_intestine COSM1719609 KAT6B c.4957C>T p.P1653S Substitution - Missense Skin COSM1716018 PHF3 c.3316A>G p.T1106A Substitution - Missense Small_intestine COSM1662795 MLL5 c.1796A>T p.E599V Substitution - Missense Kidney COSM1662868 MTA1 c.268C>A p.P90T Substitution - Missense Kidney COSM1717602 KMT2D c.7390C>T p.R2464* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1732212 BAP1 c.851A>G p.E284G Substitution - Missense Kidney COSM1966276 TAF3 c.2098G>T p.E700* Substitution - Nonsense Large_intestine COSM2006857 KMT2D c.11256G>A p.T3752T Substitution - coding silent Oesophagus COSM2006930 KMT2D c.9578_9579insG p.P3196fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2001164 EP400 c.8431G>C p.V2811L Substitution - Missense Soft_tissue COSM2810301 ASXL3 c.848C>T p.S283L Substitution - Missense Lung COSM2866756 TRRAP c.7664C>T p.T2555M Substitution - Missense Stomach COSM3013872 PRDM9 c.2453A>T p.H818L Substitution - Missense Upper_aerodigestive_tract COSM3233485 FMR1 c.1818C>T p.R606R Substitution - coding silent Large_intestine COSM3296120 MBD5 c.1171A>G p.M391V Substitution - Missense Upper_aerodigestive_tract COSM3388567 SMARCA4 c.3547G>A p.D1183N Substitution - Missense Pancreas COSM3373873 NIPBL c.2605A>G p.K869E Substitution - Missense Thyroid COSM3411823 KMT2C c.12471A>G p.L4157L Substitution - coding silent Central_nervous_system COSM3488882 ZMYM4 c.1426C>T p.R476C Substitution - Missense Skin COSM3550717 BRWD1 c.1213A>T p.I405F Substitution - Missense Skin COSM3554883 EP300 c.1664C>T p.P555L Substitution - Missense Skin COSM3644829 ATAD2 c.2494G>T p.G832* Substitution - Nonsense Skin COSM3716600 SETMAR c.471A>G p.E157E Substitution - coding silent Prostate COSM3750649 TDRD5 c.378G>C p.R126S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3749370 SETD6 c.193T>C p.L65L Substitution - coding silent Large_intestine COSM3762006 BRPF3 c.529A>G p.S177G Substitution - Missense Large_intestine COSM3764282 KMT2A c.3461G>A p.R1154Q Substitution - Missense Central_nervous_system COSM3815974 BAHD1 c.300C>G p.P100P Substitution - coding silent Breast COSM3790814 ERCC6 c.3121C>T p.Q1041* Substitution - Nonsense Urinary_tract COSM3789848 EYA3 c.245C>G p.S82* Substitution - Nonsense Urinary_tract COSM3943003 TAF1L c.5424A>G p.K1808K Substitution - coding silent Oesophagus COSM3844862 HDAC6 c.2601G>A p.M867I Substitution - Missense Breast COSM3907607 UHRF2 c.2199C>T p.C733C Substitution - coding silent Large_intestine COSM3906160 EHMT1 c.181G>A p.A61T Substitution - Missense Stomach COSM3900865 CHD7 c.3711C>T p.N1237N Substitution - coding silent Stomach COSM3963513 PHF20 c.2403G>T p.R801S Substitution - Missense Lung COSM3973908 ATRX c.5224A>G p.R1742G Substitution - Missense Central_nervous_system COSM4031534 PRDM16 c.1789G>A p.D597N Substitution - Missense Stomach COSM3996966 ASH1L c.829A>G p.S277G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4130632 ZBTB4 c.3012T>A p.V1004V Substitution - coding silent Thyroid COSM4136893 CHD6 c.1049G>C p.R350P Substitution - Missense Ovary COSM4161998 KMT2C c.2726G>A p.R909K Substitution - Missense Upper_aerodigestive_tract COSM4383918 TET2 c.3788G>A p.C1263Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384246 EZH2 c.2084C>T p.S695L Substitution - Missense Cervix COSM4388390 STK31 c.1279A>G p.T427A Substitution - Missense Pancreas COSM4401373 CHD3 c.2576T>C p.L859P Substitution - Missense Skin COSM4594560 KMT2C c.2591A>G p.E864G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4424536 ING5 c.165G>A p.T55T Substitution - coding silent Oesophagus COSM4526942 HNF1A c.142G>A p.E48K Substitution - Missense Large_intestine COSM4505471 PRDM8 c.693C>T p.G231G Substitution - coding silent Skin COSM4576212 PRDM2 c.1802T>G p.L601R Substitution - Missense Bone COSM4580503 L3MBTL4 c.157T>G p.S53A Substitution - Missense Bone COSM4514564 BAZ2B c.979C>T p.Q327* Substitution - Nonsense Skin COSM4477591 DAXX c.2131C>T p.H711Y Substitution - Missense Skin COSM4449040 KMT2C c.1622-1G>A p.? Unknown Skin COSM4765266 CTCF c.604_605insA p.T204fs*26 Insertion - Frameshift Stomach COSM4804870 MSH6 c.3068A>G p.E1023G Substitution - Missense Liver COSM4851572 KDM5A c.3845G>A p.R1282H Substitution - Missense Biliary_tract COSM4960046 BAZ1B c.3249G>A p.R1083R Substitution - coding silent Liver COSM5387550 CBX2 c.311C>T p.S104F Substitution - Missense Skin COSM5357385 DAXX c.1486C>A p.P496T Substitution - Missense Large_intestine COSM5352923 ARID1A c.4237G>A p.A1413T Substitution - Missense Large_intestine COSM5438969 SP140_ENST00000392045 c.1885G>T p.E629* Substitution - Nonsense Oesophagus COSM5716884 BRDT c.1311C>T p.L437L Substitution - coding silent Skin COSM5745673 BRDT c.1235C>T p.S412F Substitution - Missense Pancreas COSM5715653 INOC1 c.3583G>A p.D1195N Substitution - Missense Skin COSM5723508 TDRD5 c.2092C>T p.Q698* Substitution - Nonsense Skin COSM5721858 PRDM10 c.170C>T p.S57F Substitution - Missense Skin COSM5594898 KMT2D c.2948C>T p.S983F Substitution - Missense Skin COSM5576427 ASXL3 c.679G>A p.E227K Substitution - Missense Skin COSM5581820 NCOA2 c.1695C>T p.S565S Substitution - coding silent Skin COSM5663510 STK31 c.1426G>T p.V476F Substitution - Missense Soft_tissue COSM5690914 ATAD2 c.1086A>G p.S362S Substitution - coding silent Soft_tissue COSM5706502 BPTF c.4778C>T p.S1593F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5781726 ATRX c.676G>A p.G226S Substitution - Missense Breast COSM5809213 PRDM12 c.415-2A>T p.? Unknown Liver COSM5939187 ZBTB38 c.3227C>T p.T1076I Substitution - Missense Skin COSM5891708 SMYD1 c.403C>T p.H135Y Substitution - Missense Skin COSM5940506 CHD2 c.4693-6C>T p.? Unknown Skin COSM5890732 SETD8 c.412C>T p.P138S Substitution - Missense Skin COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM42023 TET2 c.? p.K959fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM166348 DNMT3A c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5031028 KMT2D c.? p.? Substitution - Nonsense Central_nervous_system COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43413 TET2 c.?_?ins? p.?fs Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1713596 EYA2 c.715G>A p.D239N Substitution - Missense Skin COSM4928946 ATXN7 c.2529G>A p.S843S Substitution - coding silent Liver COSM5004161 SP100 c.2380C>T p.L794L Substitution - coding silent Testis COSM4293948 DIDO1 c.4924A>C p.T1642P Substitution - Missense Upper_aerodigestive_tract COSM4160411 HDGFL1 c.385T>C p.L129L Substitution - coding silent Thyroid COSM4106122 MSL3 c.1538G>A p.S513N Substitution - Missense Stomach COSM947884 PHF11 c.445C>T p.R149* Substitution - Nonsense Endometrium COSM5346999 ARID1A c.6763G>T p.E2255* Substitution - Nonsense Endometrium COSM470682 TP53BP1 c.2630C>G p.S877* Substitution - Nonsense Kidney COSM3205548 TBL1XR1 c.127C>T p.L43F Substitution - Missense Large_intestine COSM1105693 SET c.83A>C p.Q28P Substitution - Missense Endometrium COSM1720121 PRDM9 c.1883G>A p.R628K Substitution - Missense Skin COSM1562072 KMT2D c.5587G>A p.A1863T Substitution - Missense Large_intestine COSM4384082 NSD1 c.4049C>T p.P1350L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384158 MLL5 c.3443C>T p.P1148L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM251395 ARID2 c.1716-2A>G p.? Unknown Liver COSM4578070 UBR7 c.466G>A p.V156I Substitution - Missense Upper_aerodigestive_tract COSM1107882 SMARCA2 c.4171A>G p.I1391V Substitution - Missense Endometrium COSM5026860 KMT2C c.3354_3355insA p.T1119fs*2 Insertion - Frameshift Breast COSM480412 PBRM1 c.1369G>T p.E457* Substitution - Nonsense Kidney COSM446525 SETMAR c.947G>C p.G316A Substitution - Missense Breast COSM4082473 TRIM28 c.525G>A p.E175E Substitution - coding silent Stomach COSM3360317 SETDB1 c.2078G>A p.C693Y Substitution - Missense Kidney COSM3410494 CHD1 c.4882C>T p.H1628Y Substitution - Missense Cervix COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM4985904 PRDM16 c.2509G>A p.E837K Substitution - Missense Soft_tissue COSM3733523 NCOR1 c.14G>T p.G5V Substitution - Missense Upper_aerodigestive_tract COSM5981363 SETBP1 c.1254_1255insA p.R421fs*5 Insertion - Frameshift Upper_aerodigestive_tract COSM5500724 PRMT2 c.281A>G p.E94G Substitution - Missense Biliary_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM980839 MYST2 c.404C>A p.S135Y Substitution - Missense Endometrium COSM1122973 KDM5C c.471C>T p.Y157Y Substitution - coding silent Endometrium COSM910647 ORC1 c.2030G>A p.C677Y Substitution - Missense Endometrium COSM3934858 MTF2 c.943G>A p.E315K Substitution - Missense Oesophagus COSM4169546 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM927025 PRDM11 c.291C>T p.I97I Substitution - coding silent Endometrium COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM291152 MEN1 c.660G>A p.W220* Substitution - Nonsense Large_intestine COSM1411477 PHF20 c.2861C>T p.T954M Substitution - Missense Large_intestine COSM3873506 BRPF3 c.2694G>C p.L898F Substitution - Missense Stomach COSM732447 PRMT10 c.1891G>C p.E631Q Substitution - Missense Lung COSM5997662 ING3 c.1242C>T p.G414G Substitution - coding silent Prostate COSM4064326 RAI1 c.1131C>T p.L377L Substitution - coding silent Stomach COSM4669585 CBX8 c.202G>T p.G68C Substitution - Missense Large_intestine COSM4975356 MBD5 c.2797C>T p.L933F Substitution - Missense Oesophagus COSM3367900 TDRD1 c.2385A>G p.V795V Substitution - coding silent Thyroid COSM5714572 PHF21A c.1654A>T p.M552L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5799536 SMYD5 c.466G>C p.E156Q Substitution - Missense Breast COSM41292 IDH1 c.? p.R132G Substitution - Missense Bone COSM1979957 PHF21A c.447G>T p.V149V Substitution - coding silent Upper_aerodigestive_tract COSM4494743 KAT6B c.4397C>T p.P1466L Substitution - Missense Skin COSM3563493 ATRX c.6997G>A p.E2333K Substitution - Missense Skin COSM4915703 FTO c.783T>A p.H261Q Substitution - Missense Liver COSM3873501 BRPF3 c.395C>T p.P132L Substitution - Missense Stomach COSM3368531 SUV420H1 c.2452T>C p.Y818H Substitution - Missense Thyroid COSM106427 ZBTB4 c.2585C>T p.A862V Substitution - Missense Skin COSM421274 CDYL c.1364C>G p.S455C Substitution - Missense Urinary_tract COSM3644828 ATAD2 c.2690A>G p.D897G Substitution - Missense Skin COSM5943403 NCOA2 c.3917-4delT p.? Unknown Skin COSM4746832 ARID1A c.5641_5650del10 p.H1881fs*39 Deletion - Frameshift Stomach COSM4545662 CBX8 c.382G>A p.G128S Substitution - Missense Skin COSM302279 GABRG1 c.368G>A p.R123H Substitution - Missense Central_nervous_system COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Bone COSM95558 ZMYM2 c.95G>A p.G32E Substitution - Missense Lung COSM4482601 KDM5A c.2623C>T p.Q875* Substitution - Nonsense Skin COSM4150000 BAP1 c.34C>G p.P12A Substitution - Missense Ovary COSM1100855 CHD7 c.6038A>C p.K2013T Substitution - Missense Endometrium COSM3435684 MGMT c.210C>T p.F70F Substitution - coding silent Skin COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5486386 BRPF1 c.3298C>T p.R1100* Substitution - Nonsense Large_intestine COSM2176135 SETD1B c.591delC p.P199fs*38 Deletion - Frameshift Large_intestine COSM3890026 AKAP1 c.1129C>T p.Q377* Substitution - Nonsense Skin COSM1989231 MBD6 c.1229C>T p.P410L Substitution - Missense Large_intestine COSM4713898 PHC2 c.1709C>T p.T570M Substitution - Missense Large_intestine COSM488471 SMC1A c.2313G>C p.Q771H Substitution - Missense Kidney COSM2176135 SETD1B c.591delC p.P199fs*38 Deletion - Frameshift Large_intestine COSM4954415 FXR1 c.1468G>T p.D490Y Substitution - Missense Liver COSM1745401 ARID1A c.3584delG p.S1195fs*11 Deletion - Frameshift Urinary_tract COSM2772201 TAF1L c.4266C>G p.H1422Q Substitution - Missense Oesophagus COSM254822 KMT2C c.13400A>T p.K4467M Substitution - Missense Urinary_tract COSM1457133 MYST3 c.2912G>A p.R971H Substitution - Missense Pancreas COSM907698 ARID1A c.2248C>T p.R750* Substitution - Nonsense Endometrium COSM1159056 UTY c.1777delC p.H593fs*111 Deletion - Frameshift Pancreas COSM3514732 RAI1 c.649C>T p.P217S Substitution - Missense Skin COSM1248225 CHD8 c.4174-1G>T p.? Unknown Oesophagus COSM4930259 KDM6A c.443+2T>G p.? Unknown Liver COSM4066860 HDAC5 c.654T>C p.H218H Substitution - coding silent Stomach COSM3237340 KDM3B c.3947C>T p.P1316L Substitution - Missense Skin COSM4152228 SMARCA2 c.1783G>T p.V595F Substitution - Missense Ovary COSM5990679 ARID2 c.1856C>T p.T619I Substitution - Missense Liver COSM4649027 ACTL6B c.352C>T p.L118F Substitution - Missense Large_intestine COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM992151 BRD4 c.1097C>T p.A366V Substitution - Missense Endometrium COSM4384692 KMT2D c.15140A>G p.Y5047C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1220319 PHC1 c.157T>G p.F53V Substitution - Missense Large_intestine COSM3821676 L3MBTL4 c.472G>C p.D158H Substitution - Missense Breast COSM4131185 SMARCA4 c.1524T>C p.H508H Substitution - coding silent Soft_tissue COSM5374729 ATF7IP c.3154C>T p.P1052S Substitution - Missense Skin COSM3761491 EYA4 c.829G>A p.G277S Substitution - Missense Large_intestine COSM3636537 KMT2C c.1294T>C p.C432R Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1719342 L3MBTL4 c.1558C>T p.L520F Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM268708 ARID2 c.3952C>T p.Q1318* Substitution - Nonsense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5370359 PWWP2B c.873C>T p.S291S Substitution - coding silent Skin COSM4141429 KDM3B c.2699A>G p.Q900R Substitution - Missense Ovary COSM4101595 BRWD1 c.4246A>G p.K1416E Substitution - Missense Stomach COSM5659991 SMARCA4 c.1506G>T p.K502N Substitution - Missense Soft_tissue COSM5787964 AKAP1 c.513C>T p.F171F Substitution - coding silent Breast COSM4145730 PHF21A c.673C>G p.L225V Substitution - Missense Thyroid COSM1360186 EP400 c.8178A>G p.Q2726Q Substitution - coding silent Large_intestine COSM4588514 PRDM12 c.422A>G p.N141S Substitution - Missense Bone COSM1121583 KDM6A c.1482G>A p.M494I Substitution - Missense Endometrium COSM5759977 CHD6 c.4485G>A p.L1495L Substitution - coding silent Bone COSM4452994 SHPRH c.2396A>T p.K799M Substitution - Missense Skin COSM3769686 KMT2D c.7494C>T p.S2498S Substitution - coding silent Soft_tissue COSM1299359 KDM5A c.2716G>T p.E906* Substitution - Nonsense Urinary_tract COSM1487295 SHPRH c.3298C>T p.R1100C Substitution - Missense Breast COSM1087588 KMT2C c.6082C>T p.R2028* Substitution - Nonsense Stomach COSM3423698 ZMYND8 c.3449A>C p.K1150T Substitution - Missense Large_intestine COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM235680 KMT2C c.10362C>A p.Y3454* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM6001794 MGA c.2728C>T p.R910* Substitution - Nonsense Prostate COSM4643349 KDM4C c.1994A>G p.D665G Substitution - Missense Large_intestine COSM3365390 PBRM1 c.1804G>T p.E602* Substitution - Nonsense Kidney COSM983364 BPTF c.8679T>C p.V2893V Substitution - coding silent Endometrium COSM3709952 KAT6B c.2191C>G p.Q731E Substitution - Missense Upper_aerodigestive_tract COSM4891126 TRIM28 c.813G>C p.Q271H Substitution - Missense Upper_aerodigestive_tract COSM4146853 EP400 c.6646A>C p.T2216P Substitution - Missense Upper_aerodigestive_tract COSM367100 PRDM4 c.256C>T p.P86S Substitution - Missense Lung COSM1659926 BAG6 c.2241C>G p.A747A Substitution - coding silent Kidney COSM5150166 SIRT2 c.1143G>A p.R381R Substitution - coding silent Large_intestine COSM4603618 EZH2 c.? p.V742D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2812054 SETBP1 c.1492C>T p.R498W Substitution - Missense Stomach COSM4054467 INOC1 c.2201G>A p.R734H Substitution - Missense Stomach COSM1318628 TET2 c.2638delC p.H880fs*41 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4130752 CBX2 c.746G>A p.G249D Substitution - Missense Thyroid COSM3362626 DNMT1 c.4769T>C p.L1590S Substitution - Missense Kidney COSM5708461 MBD4 c.1276+2T>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5959797 SUV420H1 c.2228T>C p.I743T Substitution - Missense Thyroid COSM303670 EZH2 c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144617 KMT2D c.1940_1940delC p.P647fs*38 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3649304 MYST3 c.1456C>T p.R486C Substitution - Missense Skin COSM1625488 SMARCA1 c.2954A>G p.Y985C Substitution - Missense Liver COSM4001534 SP100 c.1257G>A p.S419S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5992312 BRDT c.2288-8G>A p.? Unknown Prostate COSM1670247 PHF7 c.979G>T p.E327* Substitution - Nonsense Large_intestine COSM1716951 ARID1B c.5181delG p.E1728fs*20 Deletion - Frameshift Ovary COSM5607874 ARID1B c.5656C>T p.P1886S Substitution - Missense Skin COSM346342 ATF7IP c.3271C>T p.P1091S Substitution - Missense Lung COSM126965 TET2 c.1763C>A p.S588* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5352583 LBR c.1688-8_1688-6delATC p.? Unknown Large_intestine COSM3347131 EHMT2 c.3035C>T p.P1012L Substitution - Missense Large_intestine COSM1719483 MECOM c.2497G>A p.G833S Substitution - Missense Skin COSM1361684 ARID2 c.1331-1G>A p.? Unknown Large_intestine COSM1752895 MBD4 c.1087G>C p.E363Q Substitution - Missense Urinary_tract COSM3800778 BRWD3 c.5316G>C p.E1772D Substitution - Missense Urinary_tract COSM5490735 HDAC3 c.68C>T p.P23L Substitution - Missense Biliary_tract COSM4603246 RNF134 c.84_85insGCCTCC p.P28_V29insAS Insertion - In frame Upper_aerodigestive_tract COSM30590 SMARCA4 c.3729_3730delGC p.A1245fs*13 Deletion - Frameshift Lung COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4018286 KMT2A c.1754T>G p.L585R Substitution - Missense Stomach COSM5341630 PHRF1 c.1344T>A p.L448L Substitution - coding silent Large_intestine COSM1485523 BRPF1 c.1788T>G p.H596Q Substitution - Missense Breast COSM5178321 MSL3 c.842A>G p.Q281R Substitution - Missense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3718982 TET2 c.650delC p.V218fs*32 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM252975 CHD1 c.2181-4delT p.? Unknown Biliary_tract COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4694061 MYST3 c.1096C>T p.R366* Substitution - Nonsense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5935873 HCFC2 c.470C>T p.P157L Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43508 TET2 c.961C>T p.Q321* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5359725 UHRF2 c.974-1G>C p.? Unknown Large_intestine COSM3770712 HELLS c.617A>G p.N206S Substitution - Missense Pancreas COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM264147 TP53BP1 c.2209G>T p.E737* Substitution - Nonsense Endometrium COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5559608 KDM6B c.1375C>A p.L459I Substitution - Missense Prostate COSM4827884 INOC1 c.1516G>C p.E506Q Substitution - Missense Cervix COSM2747643 DOT1L c.3151A>G p.T1051A Substitution - Missense Large_intestine COSM5607830 ARID1A c.3611C>T p.S1204F Substitution - Missense Skin COSM4431997 KDM6A c.2578G>T p.E860* Substitution - Nonsense Oesophagus COSM5894869 JHDM1D c.724C>T p.P242S Substitution - Missense Skin COSM1642287 SMARCC1 c.890G>A p.R297H Substitution - Missense Stomach COSM106672 RAG2 c.968G>A p.G323E Substitution - Missense Skin COSM5429846 EYA3 c.283C>T p.Q95* Substitution - Nonsense Oesophagus COSM307327 BAZ2B c.5875T>C p.Y1959H Substitution - Missense Liver COSM1577234 MEN1 c.1248_1267del20 p.F416fs*26 Deletion - Frameshift Parathyroid COSM4187730 TP53BP1 c.3814G>A p.E1272K Substitution - Missense Kidney COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Biliary_tract COSM1978344 RAG2 c.356A>G p.K119R Substitution - Missense Liver COSM5003484 ZMYM2 c.2289C>A p.Y763* Substitution - Nonsense Pancreas COSM125073 ORC1 c.1552G>A p.V518M Substitution - Missense Upper_aerodigestive_tract COSM3775272 ACTR8 c.1073C>T p.S358F Substitution - Missense Urinary_tract COSM1184380 KMT2C c.14651A>G p.Y4884C Substitution - Missense Large_intestine COSM43446 TET2 c.2428C>T p.Q810* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3723034 PHF2 c.2976C>A p.T992T Substitution - coding silent Large_intestine COSM938871 PRMT8 c.751C>T p.R251W Substitution - Missense Endometrium COSM3693541 NCOA5 c.330C>T p.Y110Y Substitution - coding silent Large_intestine COSM3422185 SETBP1 c.2281G>A p.V761M Substitution - Missense Large_intestine COSM1028998 DIDO1 c.907C>T p.R303* Substitution - Nonsense Endometrium COSM256274 AICDA c.332C>T p.A111V Substitution - Missense Large_intestine COSM3836956 MBD5 c.3532G>A p.E1178K Substitution - Missense Breast COSM4045239 AICDA c.379C>T p.R127W Substitution - Missense Stomach COSM1122189 HDAC6 c.1657A>C p.K553Q Substitution - Missense Endometrium COSM4426208 KMT2D c.6298C>T p.R2100C Substitution - Missense Oesophagus COSM4015102 JMJD1C c.5028G>A p.Q1676Q Substitution - coding silent Stomach COSM3296123 MBD5 c.1224A>T p.P408P Substitution - coding silent Upper_aerodigestive_tract COSM5396599 HDAC4 c.1521C>T p.I507I Substitution - coding silent Skin COSM3026278 STK31 c.580T>G p.Y194D Substitution - Missense Large_intestine COSM3296123 MBD5 c.1224A>T p.P408P Substitution - coding silent Upper_aerodigestive_tract COSM316706 ZMYND8 c.679T>A p.Y227N Substitution - Missense Soft_tissue COSM5234262 SP140_ENST00000392045 c.669C>A p.S223S Substitution - coding silent Large_intestine COSM4592007 RAI1 c.841_843delCAG p.Q291delQ Deletion - In frame Upper_aerodigestive_tract COSM5549289 NIPBL c.7718C>A p.A2573E Substitution - Missense Prostate COSM3375814 PHF21A c.1122G>C p.G374G Substitution - coding silent Pancreas COSM3026307 STK31 c.1713+10G>A p.? Unknown Large_intestine COSM3746281 SETD8 c.713G>C p.R238P Substitution - Missense Liver COSM263608 SETD5_ENST00000402198 c.2390C>A p.S797* Substitution - Nonsense Large_intestine COSM222118 HDAC9 c.2045G>A p.R682Q Substitution - Missense Endometrium COSM1721332 PWWP2B c.289A>C p.T97P Substitution - Missense Skin COSM2965363 KDM6A c.1952C>T p.S651L Substitution - Missense Upper_aerodigestive_tract COSM1217354 NIPBL c.1413G>T p.L471F Substitution - Missense Large_intestine COSM4590050 PRDM10 c.1332A>C p.E444D Substitution - Missense Upper_aerodigestive_tract COSM1026111 NCOA6 c.428G>A p.R143Q Substitution - Missense Endometrium COSM3741891 SETD1A c.3141C>T p.S1047S Substitution - coding silent Liver COSM1445551 PHF3 c.3402delA p.V1137fs*1 Deletion - Frameshift Large_intestine COSM3294907 ZMYND8 c.1811T>C p.V604A Substitution - Missense Stomach COSM4950758 PHF14 c.112G>C p.D38H Substitution - Missense Liver COSM3831821 SND1 c.2149G>T p.D717Y Substitution - Missense Breast COSM4008572 RAD54L c.2091T>C p.S697S Substitution - coding silent Stomach COSM5423060 MYST3 c.1900A>T p.K634* Substitution - Nonsense Prostate COSM96523 TET2 c.? p.V1718L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM321095 KAT2B c.871G>T p.V291L Substitution - Missense Oesophagus COSM3546361 CHD6 c.4454C>T p.S1485F Substitution - Missense Skin COSM277427 SP100 c.2144T>G p.F715C Substitution - Missense Large_intestine COSM21474 HNF1A c.710A>G p.N237S Substitution - Missense Liver COSM4013685 ZMYND11 c.1675C>T p.R559C Substitution - Missense Stomach COSM3371063 SETBP1 c.182A>T p.D61V Substitution - Missense Thyroid COSM4605720 ASH1L c.6420A>T p.Q2140H Substitution - Missense Upper_aerodigestive_tract COSM4923320 MYST3 c.2586A>G p.P862P Substitution - coding silent Liver COSM3429794 CHD1 c.3295G>C p.D1099H Substitution - Missense Large_intestine COSM434566 CHD2 c.2142A>G p.E714E Substitution - coding silent Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5025073 DNMT3A c.1463G>T p.R488L Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM385116 ATF7IP c.3136C>T p.Q1046* Substitution - Nonsense Lung COSM1754254 NIPBL c.834A>G p.V278V Substitution - coding silent Urinary_tract COSM227167 NCOA6 c.5236C>T p.P1746S Substitution - Missense Skin COSM4072249 SETBP1 c.3355G>T p.G1119* Substitution - Nonsense Stomach COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM6002734 HDAC5 c.1152C>G p.N384K Substitution - Missense Prostate COSM4414013 ARID1A c.4200T>C p.P1400P Substitution - coding silent Kidney COSM3781826 DHX30 c.3208C>T p.R1070W Substitution - Missense Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5745575 PRDM2 c.2978T>C p.V993A Substitution - Missense Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3877887 SND1 c.119G>T p.R40L Substitution - Missense Stomach COSM4771544 SETBP1 c.2607C>T p.S869S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM397896 CHD7 c.5211-1G>T p.? Unknown Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4450369 CHD6 c.5656delG p.E1886fs*32 Deletion - Frameshift Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4553769 MEN1 c.585G>A p.E195E Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3879539 KMT2C c.9755G>A p.R3252H Substitution - Missense Stomach COSM5041046 PRDM13 c.1595T>C p.M532T Substitution - Missense Liver COSM5455769 EHMT1 c.419C>T p.T140M Substitution - Missense Large_intestine COSM3906843 TAF1L c.3113A>G p.K1038R Substitution - Missense Stomach COSM5444730 ARID1A c.5152G>T p.E1718* Substitution - Nonsense Oesophagus COSM42070 TET2 c.5650A>G p.T1884A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1079903 TDRD6 c.3752T>G p.F1251C Substitution - Missense Endometrium COSM5688058 PRDM13 c.1646C>A p.A549D Substitution - Missense Soft_tissue COSM5669369 PRDM9 c.2590G>T p.E864* Substitution - Nonsense Soft_tissue COSM3739964 KDM3A c.431A>T p.K144I Substitution - Missense Liver COSM4170137 TET2 c.2254_2257delAATA p.N752fs*60 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM122797 EHMT1 c.1027G>A p.D343N Substitution - Missense Upper_aerodigestive_tract COSM255312 SMARCA4 c.3727C>T p.R1243W Substitution - Missense Peritoneum COSM70667 EZH1 c.965A>G p.K322R Substitution - Missense Ovary COSM4465024 SETD3 c.1363C>T p.H455Y Substitution - Missense Skin COSM1301899 SETD1A c.4739G>T p.W1580L Substitution - Missense Urinary_tract COSM4015927 KAT6B c.4906A>G p.I1636V Substitution - Missense Stomach COSM3567466 MBD5 c.4019T>G p.F1340C Substitution - Missense Skin COSM3619195 PRDM1 c.1419C>T p.A473A Substitution - coding silent Skin COSM1171829 KDM2A c.3423C>G p.I1141M Substitution - Missense Breast COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM23156 MEN1 c.1623_1652del30 p.A542_L551del Deletion - In frame Gastrointestinal_tract_(site_indeterminate) COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1064 SMARCB1 c.351delC p.P117fs*26 Deletion - Frameshift Soft_tissue COSM52916 BAP1 c.38-25_47del35 p.? Unknown Eye COSM75576 NCOA3 c.1076A>T p.D359V Substitution - Missense Ovary COSM87212 KMT2C c.5587C>G p.P1863A Substitution - Missense Soft_tissue COSM110777 TET2 c.2003_2003delT p.L668fs*32 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM96400 ASXL1 c.1774C>T p.Q592* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM112121 PRDM2 c.2104_2105insCTC p.P703_A704insP Insertion - In frame Upper_aerodigestive_tract COSM112121 PRDM2 c.2104_2105insCTC p.P703_A704insP Insertion - In frame Upper_aerodigestive_tract COSM126118 SFMBT2 c.2209G>T p.G737C Substitution - Missense Upper_aerodigestive_tract COSM147381 PRDM10 c.1287+6G>C p.? Unknown Stomach COSM146701 TDRD5 c.2164G>A p.E722K Substitution - Missense Stomach COSM218772 DHX30 c.2003C>T p.P668L Substitution - Missense Pancreas COSM211725 TET2 c.3860T>C p.F1287S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM205718 SHPRH c.4105C>T p.R1369C Substitution - Missense Ovary COSM211765 ARID1A c.2352_2353insG p.M785fs*32 Insertion - Frameshift Endometrium COSM215751 SMARCA4 c.3403C>T p.R1135W Substitution - Missense Urinary_tract COSM216053 KMT2C c.2961C>G p.Y987* Substitution - Nonsense Central_nervous_system COSM225883 KMT2C c.2968A>G p.S990G Substitution - Missense Soft_tissue COSM266238 CHD6 c.1714G>A p.V572I Substitution - Missense Large_intestine COSM262335 NCOA6 c.3357G>T p.Q1119H Substitution - Missense Large_intestine COSM276402 NSD1 c.2183T>C p.V728A Substitution - Missense Large_intestine COSM330655 MSH6 c.3254delC p.F1088fs*2 Deletion - Frameshift Stomach COSM327305 SMARCB1 c.1117A>G p.R373G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM373315 TRIM24 c.732A>T p.R244R Substitution - coding silent Lung COSM390253 CHD1 c.481G>T p.G161C Substitution - Missense Lung COSM415775 SUV420H1 c.1190C>A p.S397Y Substitution - Missense Urinary_tract COSM471813 CHD9 c.5154T>G p.V1718V Substitution - coding silent Kidney COSM1600583 TRIM33 c.2768+10A>G p.? Unknown Liver COSM483226 PRDM1 c.1459G>A p.A487T Substitution - Missense Large_intestine COSM485165 HDAC9 c.172C>A p.Q58K Substitution - Missense Kidney COSM1050504 PRDM5 c.949C>A p.H317N Substitution - Missense Endometrium COSM954568 PRMT5 c.1199+1G>A p.? Unknown Endometrium COSM1051178 PHF17 c.550G>A p.D184N Substitution - Missense Endometrium COSM937491 ATF7IP c.43C>T p.R15* Substitution - Nonsense Endometrium COSM704393 PRMT7 c.1948T>A p.Y650N Substitution - Missense Lung COSM708762 CHD3 c.2243G>T p.R748L Substitution - Missense Lung COSM907709 ARID1A c.3353_3354insTG p.A1119fs*43 Insertion - Frameshift Endometrium COSM931022 KDM2A c.3401G>A p.R1134Q Substitution - Missense Endometrium COSM923582 KMT2A c.4928C>A p.S1643Y Substitution - Missense Endometrium COSM990736 SMARCA4 c.1108C>T p.R370C Substitution - Missense Endometrium COSM1602134 ARID1A c.666delC p.P224fs*8 Deletion - Frameshift Stomach COSM1071563 PRDM13 c.358G>A p.D120N Substitution - Missense Breast COSM971516 FTO c.1476C>T p.I492I Substitution - coding silent Endometrium COSM1108528 KIAA1045 c.107G>A p.R36H Substitution - Missense Endometrium COSM1087503 KMT2C c.14365C>T p.R4789* Substitution - Nonsense Cervix COSM1099928 MYST3 c.3386G>A p.R1129Q Substitution - Missense Endometrium COSM1230264 TRDMT1 c.553G>A p.E185K Substitution - Missense Large_intestine COSM1245443 ARID1A c.5272_5288del17 p.P1758fs*9 Deletion - Frameshift Oesophagus COSM1209349 HCFC2 c.571G>T p.E191* Substitution - Nonsense Large_intestine COSM1255161 JMJD1C c.964G>C p.V322L Substitution - Missense Stomach COSM1179560 ZMYND8 c.3498T>C p.D1166D Substitution - coding silent Prostate COSM1221419 POGZ c.2935C>T p.R979* Substitution - Nonsense Large_intestine COSM1186265 SETD2 c.4539G>T p.W1513C Substitution - Missense Kidney COSM1318048 KDM2B c.1711_1713delAAG p.K571delK Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM1324409 CHD9 c.437A>T p.H146L Substitution - Missense Ovary COSM1329384 CHD1 c.3861G>A p.K1287K Substitution - coding silent Ovary COSM1433316 BRD8 c.2979C>A p.L993L Substitution - coding silent Large_intestine COSM1449324 SMARCD3 c.987C>T p.N329N Substitution - coding silent Large_intestine COSM1369039 CHD8 c.1051_1052insA p.I351fs*70 Insertion - Frameshift Large_intestine COSM1348595 JMJD1C c.892A>G p.N298D Substitution - Missense Large_intestine COSM1484264 EP300 c.4352A>C p.H1451P Substitution - Missense Breast COSM1476836 CHD4 c.2710C>A p.P904T Substitution - Missense Breast COSM1488389 KMT2C c.13939_13940delAA p.K4647fs*2 Deletion - Frameshift Breast COSM1711633 KDM4B c.2845G>A p.E949K Substitution - Missense Skin COSM1697480 PHF3 c.2908T>A p.F970I Substitution - Missense Skin COSM2078562 PRDM16 c.3300C>T p.I1100I Substitution - coding silent Skin COSM2813816 SMARCA4 c.4403C>G p.A1468G Substitution - Missense Large_intestine COSM2866772 TRRAP c.7957G>A p.A2653T Substitution - Missense Large_intestine COSM2952797 TET2 c.4074C>T p.C1358C Substitution - coding silent Pancreas COSM2961643 MYST3 c.5937A>T p.T1979T Substitution - coding silent Upper_aerodigestive_tract COSM3097098 ATRX c.2607G>T p.K869N Substitution - Missense Large_intestine COSM3166382 ATAD2 c.375A>T p.K125N Substitution - Missense Large_intestine COSM3304460 KMT2C c.2349C>A p.S783S Substitution - coding silent Liver COSM3296115 MBD5 c.882G>A p.R294R Substitution - coding silent Upper_aerodigestive_tract COSM3339750 DUSP1 c.1027G>A p.V343I Substitution - Missense Prostate COSM3360953 ORC1 c.2100T>C p.F700F Substitution - coding silent Kidney COSM3602829 WHSC1 c.3015C>T p.I1005I Substitution - coding silent Skin COSM3567443 MBD5 c.1486A>G p.T496A Substitution - Missense Skin COSM3551321 DNMT3L c.892G>T p.A298S Substitution - Missense Skin COSM3525849 SETBP1 c.799A>G p.K267E Substitution - Missense Skin COSM3663430 TRRAP c.7004C>A p.S2335Y Substitution - Missense Liver COSM3690406 TP53BP1 c.2994G>A p.A998A Substitution - coding silent Large_intestine COSM3722549 KMT2D c.3022G>T p.G1008* Substitution - Nonsense Oesophagus COSM3750437 HDGF c.602C>T p.P201L Substitution - Missense Large_intestine COSM3756111 SMCHD1 c.981A>T p.K327N Substitution - Missense Large_intestine COSM3771539 TDRD5 c.137G>A p.R46Q Substitution - Missense Pancreas COSM3794147 MGA c.2873C>G p.T958S Substitution - Missense Urinary_tract COSM3824011 SETD2 c.624C>T p.V208V Substitution - coding silent Breast COSM3841955 PRDM15 c.4310A>G p.N1437S Substitution - Missense Breast COSM3948417 GTF3C1 c.2911A>T p.R971W Substitution - Missense Ovary COSM3968245 KMT2D c.9116C>T p.S3039F Substitution - Missense Central_nervous_system COSM4011749 TDRD1 c.1892T>C p.V631A Substitution - Missense Stomach COSM3998825 KMT2D c.902T>G p.F301C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4000811 UHRF1 c.31G>T p.A11S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4118099 SMARCC1 c.1348A>G p.I450V Substitution - Missense Stomach COSM4116586 KAT2B c.560A>G p.Y187C Substitution - Missense Stomach COSM4074028 SMARCA4 c.1803G>A p.P601P Substitution - coding silent Stomach COSM4145728 PHF21A c.975C>A p.S325R Substitution - Missense Upper_aerodigestive_tract COSM4170032 TET2 c.2245C>T p.Q749* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4385135 ASXL1 c.3635delC p.L1213fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM42014 TET2 c.5500C>T p.Q1834* Substitution - Nonsense Upper_aerodigestive_tract COSM4595334 CREBBP c.5264_5283del20 p.S1755fs*204 Deletion - Frameshift Upper_aerodigestive_tract COSM4575400 ARID2 c.4146C>T p.S1382S Substitution - coding silent Bone COSM4593308 CREBBP c.6682C>G p.H2228D Substitution - Missense Upper_aerodigestive_tract COSM4430887 TRRAP c.4156A>T p.I1386F Substitution - Missense Oesophagus COSM4592612 KAT2A c.1561G>C p.V521L Substitution - Missense Upper_aerodigestive_tract COSM4410707 PBRM1 c.435delT p.R146fs*28 Deletion - Frameshift Kidney COSM4689181 GTF3C1 c.4395G>A p.V1465V Substitution - coding silent Large_intestine COSM4689678 HDAC4 c.2171G>A p.G724D Substitution - Missense Large_intestine COSM4765163 ZMYM4 c.1282_1283insAA p.P431fs*6 Insertion - Frameshift Stomach COSM4622982 ARID4A c.3725C>A p.P1242H Substitution - Missense Large_intestine COSM4611655 HDAC2 c.33delA p.V12fs*20 Deletion - Frameshift Large_intestine COSM4621750 HDAC8 c.90C>T p.S30S Substitution - coding silent Large_intestine COSM4615728 SETD7 c.1026_1027insC p.G343fs*6 Insertion - Frameshift Large_intestine COSM4752911 NIPBL c.3344G>C p.W1115S Substitution - Missense Stomach COSM4796019 BAHCC1 c.1999G>A p.A667T Substitution - Missense Liver COSM4799182 PRDM11 c.1298C>T p.A433V Substitution - Missense Liver COSM4881625 EYA2 c.814G>A p.V272M Substitution - Missense Upper_aerodigestive_tract COSM4954970 PRDM8 c.824G>A p.S275N Substitution - Missense Liver COSM4960634 NCOR1 c.2549G>A p.S850N Substitution - Missense Liver COSM4998179 L3MBTL3 c.1070C>T p.S357L Substitution - Missense Pancreas COSM4996391 TET2 c.4250T>G p.V1417G Substitution - Missense Upper_aerodigestive_tract COSM4976412 BAZ2A c.4131A>G p.A1377A Substitution - coding silent Oesophagus COSM5052844 TDRD5 c.1230delA p.K412fs*17 Deletion - Frameshift Stomach COSM5370946 JMJD1C c.5227C>T p.P1743S Substitution - Missense Skin COSM5382220 BAZ1A c.3252C>T p.L1084L Substitution - coding silent Skin COSM5363047 PYGO1 c.1248C>A p.G416G Substitution - coding silent Large_intestine COSM5405505 CDYL c.1640T>C p.V547A Substitution - Missense Skin COSM5470314 UBR7 c.503G>A p.G168D Substitution - Missense Large_intestine COSM5449408 ASXL1 c.2039G>A p.G680D Substitution - Missense Large_intestine COSM5629926 BRDT c.2464T>C p.S822P Substitution - Missense Oesophagus COSM5739286 MTA2 c.1407C>A p.C469* Substitution - Nonsense Small_intestine COSM5658493 PRDM13 c.1063C>A p.H355N Substitution - Missense Soft_tissue COSM5659549 SIRT6 c.715G>T p.V239F Substitution - Missense Soft_tissue COSM5807879 SP100 c.1129C>T p.Q377* Substitution - Nonsense Liver COSM5962168 AIRE c.790G>A p.A264T Substitution - Missense Breast COSM5999090 TAF3 c.61C>G p.L21V Substitution - Missense Prostate COSM5970727 KMT2D c.6133C>T p.H2045Y Substitution - Missense Upper_aerodigestive_tract COSM6017923 NCOA3 c.2348C>T p.P783L Substitution - Missense Skin COSM53062 TET2 c.? p.S792* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM1716808 TET2 c.? p.R1261H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1717432 BAP1 c.? p.K419T Substitution - Missense Biliary_tract COSM5946129 MEN1 c.? p.L117fs*? Deletion - Frameshift Pituitary COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM3841281 ADNP c.1363C>A p.L455I Substitution - Missense Breast COSM3710799 BAZ2A c.3307G>T p.G1103C Substitution - Missense Upper_aerodigestive_tract COSM5408348 TRRAP c.559C>T p.P187S Substitution - Missense Skin COSM4609299 JHDM1D c.1888G>T p.E630* Substitution - Nonsense Adrenal_gland COSM1601635 SMYD2 c.300G>T p.W100C Substitution - Missense Liver COSM5971744 CCDC101 c.321G>A p.S107S Substitution - coding silent Upper_aerodigestive_tract COSM5563130 WHSC1 c.3010C>T p.Q1004* Substitution - Nonsense Prostate COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM3920557 PRDM1 c.233G>A p.G78E Substitution - Missense Skin COSM162502 KMT2C c.7442+1G>A p.? Unknown Breast COSM939270 KDM5A c.2379C>A p.T793T Substitution - coding silent Endometrium COSM36390 SMARCB1 c.795+2T>ATGA p.? Unknown Central_nervous_system COSM1611866 GATAD2A c.195+3C>G p.? Unknown Liver COSM1666858 ARID1A c.? p.W337* Substitution - Nonsense Lung COSM1125451 ATRX c.4148A>C p.D1383A Substitution - Missense Endometrium COSM1602269 ZMYM6 c.3413T>G p.F1138C Substitution - Missense Liver COSM23159 MEN1 c.1413G>A p.W471* Substitution - Nonsense Central_nervous_system COSM4103005 SMARCB1 c.357C>T p.Y119Y Substitution - coding silent Stomach COSM69206 KDM5B c.2943_2944insG p.F982fs*32 Insertion - Frameshift Ovary COSM220678 KMT2D c.14830C>T p.R4944C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1578291 KDM4C c.1948C>T p.L650L Substitution - coding silent Lung COSM5596314 ASXL3 c.916G>A p.E306K Substitution - Missense Skin COSM5501262 BRWD3 c.2495C>T p.T832I Substitution - Missense Biliary_tract COSM1294653 PRMT6 c.705G>A p.V235V Substitution - coding silent Urinary_tract COSM211768 ARID1A c.6298C>T p.Q2100* Substitution - Nonsense Pancreas COSM3831625 PHF14 c.618T>C p.Y206Y Substitution - coding silent Breast COSM52828 PBRM1 c.1984_1985delCT p.L662fs*2 Deletion - Frameshift Kidney COSM4610892 TRIM33 c.1650_1651insACA p.T550_Q551insT Insertion - In frame Large_intestine COSM1426223 TET2 c.5921G>T p.R1974M Substitution - Missense Large_intestine COSM385680 NCOA6 c.359G>T p.R120L Substitution - Missense Lung COSM969941 SRCAP c.6969A>G p.S2323S Substitution - coding silent Endometrium COSM404833 TRIM66 c.2089delA p.T697fs*21 Deletion - Frameshift Lung COSM4060209 SRCAP c.6893C>A p.A2298D Substitution - Missense Stomach COSM1303963 CARM1 c.1583C>G p.S528C Substitution - Missense Urinary_tract COSM966444 IDH2 c.248A>T p.D83V Substitution - Missense Endometrium COSM3637036 HDAC9 c.1367C>T p.P456L Substitution - Missense Skin COSM4605236 KMT2C c.3743C>G p.S1248* Substitution - Nonsense Upper_aerodigestive_tract COSM4490537 SRCAP c.3656C>T p.T1219I Substitution - Missense Skin COSM3300263 BAZ2B c.3354G>C p.L1118L Substitution - coding silent Upper_aerodigestive_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Prostate COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4451237 PRDM5 c.1121A>G p.K374R Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM4844424 KAT5 c.766G>A p.D256N Substitution - Missense Oesophagus COSM1679451 PHF23 c.245C>T p.S82L Substitution - Missense Large_intestine COSM5628755 BAZ2A_ENST00000379441 c.4020_4021insC p.A1341fs*4 Insertion - Frameshift Oesophagus COSM28756 IDH1 c.? p.G97D Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5816839 BRD7 c.895A>T p.K299* Substitution - Nonsense Liver COSM275569 ING3 c.563G>A p.R188Q Substitution - Missense Breast COSM1116461 FMR1 c.749T>C p.V250A Substitution - Missense Endometrium COSM998 SMARCB1 c.1121G>A p.R374Q Substitution - Missense Oesophagus COSM30427 KMT2D c.9042C>T p.S3014S Substitution - coding silent Lung COSM3900859 CHD7 c.1687C>G p.L563V Substitution - Missense Stomach COSM387806 MLL5 c.769-2A>T p.? Unknown Lung COSM4757999 BAHCC1 c.3412G>A p.E1138K Substitution - Missense Stomach COSM4064341 RAI1 c.2056C>G p.L686V Substitution - Missense Stomach COSM147495 KMT2D c.11700A>G p.P3900P Substitution - coding silent Soft_tissue COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5941457 ASH1L c.974C>T p.P325L Substitution - Missense Skin COSM457078 HCFC1 c.4190C>T p.P1397L Substitution - Missense Breast COSM5754519 RERE c.199A>C p.T67P Substitution - Missense Large_intestine COSM5913979 ASXL3 c.551C>T p.S184F Substitution - Missense Skin COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5046965 SUV39H2 c.638G>C p.R213T Substitution - Missense Oesophagus COSM72281 PRDM9 c.1148C>G p.P383R Substitution - Missense Ovary COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM306072 EZH2 c.2051G>A p.R684H Substitution - Missense Large_intestine COSM426846 MTF2 c.1412C>G p.S471C Substitution - Missense Breast COSM221126 KMT2D c.9022C>T p.Q3008* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3589887 MECOM c.899C>T p.S300F Substitution - Missense Skin COSM916830 TRDMT1 c.187G>A p.E63K Substitution - Missense Large_intestine COSM3906158 EHMT1 c.57G>A p.A19A Substitution - coding silent Stomach COSM1757274 SMC1A c.1592A>T p.Q531L Substitution - Missense Urinary_tract COSM5774720 FMR1 c.1019C>T p.S340F Substitution - Missense Breast COSM4416984 DOT1L c.3391-5C>T p.? Unknown Soft_tissue COSM52930 ASXL1 c.2324T>G p.L775* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5945138 EZH2 c.82C>T p.Q28* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM414859 ORC1 c.224-1G>A p.? Unknown Urinary_tract COSM1630066 NCOR1 c.515C>T p.S172L Substitution - Missense Upper_aerodigestive_tract COSM5498972 TRRAP c.7114C>T p.R2372W Substitution - Missense Biliary_tract COSM4591233 NCOR1 c.534G>C p.K178N Substitution - Missense Upper_aerodigestive_tract COSM4677537 DIDO1 c.338_339insG p.S114fs*7 Insertion - Frameshift Large_intestine COSM4069612 ZBTB4 c.3030C>T p.G1010G Substitution - coding silent Stomach COSM5722738 ASXL3 c.544G>A p.E182K Substitution - Missense Skin COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5553713 HDAC4 c.2130G>C p.E710D Substitution - Missense Prostate COSM4042121 HDAC7 c.2092G>A p.A698T Substitution - Missense Stomach COSM1646003 SETDB1 c.99G>T p.L33L Substitution - coding silent Lung COSM977055 PHF12 c.1314G>A p.A438A Substitution - coding silent Endometrium COSM5784075 MINA c.1010G>C p.R337T Substitution - Missense Breast COSM1699615 KMT2C c.13501A>G p.M4501V Substitution - Missense Skin COSM5355435 DHX30 c.463C>T p.R155C Substitution - Missense Large_intestine COSM3750243 TRIM33 c.1146A>G p.Q382Q Substitution - coding silent Soft_tissue COSM5422542 HDAC8 c.129T>G p.S43S Substitution - coding silent Prostate COSM42072 TET2 c.3417_3417delT p.I1140fs*12 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3393996 HDGFL1 c.130G>A p.G44R Substitution - Missense Pancreas COSM133036 ASXL1 c.3748T>C p.S1250P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1012891 ASXL1 c.3671G>C p.R1224T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM255103 MEN1 c.? p.G42V Substitution - Missense Parathyroid COSM94731 MSH6 c.1646C>T p.S549F Substitution - Missense Lung COSM2859838 TIF1 c.1152C>T p.Y384Y Substitution - coding silent Large_intestine COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4878497 RING1 c.380G>A p.R127H Substitution - Missense Prostate COSM4169377 CREBBP c.4404_4405delAG p.G1469fs*9 Deletion - Frameshift Breast COSM4685173 FMR1 c.1412G>A p.R471Q Substitution - Missense Large_intestine COSM315859 TDRD6 c.5435T>A p.L1812Q Substitution - Missense Lung COSM3772332 EP400 c.6627G>A p.M2209I Substitution - Missense Pancreas COSM1330177 PHF14 c.539C>T p.P180L Substitution - Missense Ovary COSM1114805 SMARCA1 c.1109C>A p.S370Y Substitution - Missense Endometrium COSM26971 WHSC1 c.1685_1686insC p.E563fs*>23 Insertion - Frameshift Lung COSM4646440 KMT2D c.9027G>A p.Q3009Q Substitution - coding silent Large_intestine COSM1684624 ADNP c.2247_2249delTGT p.V751delV Deletion - In frame Kidney COSM3694792 ZMYM3 c.162G>A p.S54S Substitution - coding silent Large_intestine COSM920701 TAF3 c.1222G>A p.E408K Substitution - Missense Large_intestine COSM941750 BAZ2A_ENST00000379441 c.3125G>A p.R1042H Substitution - Missense Endometrium COSM3080621 ACTL6B c.695delC p.P232fs*24 Deletion - Frameshift Stomach COSM1168834 EZH1 c.2122C>T p.R708W Substitution - Missense Pancreas COSM3827919 PRDM9 c.1872C>T p.L624L Substitution - coding silent Breast COSM699668 SETD3 c.777C>T p.P259P Substitution - coding silent Lung COSM415319 KMT2A c.9838C>T p.R3280* Substitution - Nonsense Liver COSM1713595 EYA2 c.683G>A p.G228E Substitution - Missense Skin COSM255114 MEN1 c.? p.L89R Substitution - Missense Parathyroid COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1185402 ZMYM4 c.1096T>G p.S366A Substitution - Missense Lung COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4506735 CHD8 c.7280C>T p.S2427F Substitution - Missense Skin COSM33731 IDH2 c.514A>G p.R172G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4176173 TRDMT1 c.410T>C p.I137T Substitution - Missense Large_intestine COSM1639806 ARID1A c.275_291del17 p.G92fs*13 Deletion - Frameshift Stomach COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5824982 KMT2C c.2588C>A p.S863* Substitution - Nonsense Pancreas COSM4521951 TRRAP c.11295G>T p.S3765S Substitution - coding silent Skin COSM3113045 SRCAP c.8903_8917del15 p.P2970_P2974delPHPSP Deletion - In frame Upper_aerodigestive_tract COSM723103 DNMT3B c.2232G>T p.R744S Substitution - Missense Lung COSM5051640 KMT2D c.3395A>G p.H1132R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5547439 EZH2 c.1919delA p.N640fs*35 Deletion - Frameshift Prostate COSM1099937 MYST3 c.2833G>A p.E945K Substitution - Missense Endometrium COSM4665990 BPTF c.1233A>G p.V411V Substitution - coding silent Large_intestine COSM196575 RSF1 c.2530C>T p.R844* Substitution - Nonsense Skin COSM79004 NIPBL c.2582C>A p.S861* Substitution - Nonsense Ovary COSM4060394 MYST1 c.562G>A p.E188K Substitution - Missense Stomach COSM1734899 PRMT1 c.457G>A p.V153M Substitution - Missense Pancreas COSM1372838 MGA c.7893A>G p.E2631E Substitution - coding silent Large_intestine COSM3691808 ZBTB4 c.2185G>A p.G729R Substitution - Missense Large_intestine COSM1169587 PBRM1 c.2822C>G p.S941* Substitution - Nonsense Oesophagus COSM4565232 HDAC3 c.188_189CC>AT p.S63Y Substitution - Missense Skin COSM364828 TAF1L c.1140G>T p.G380G Substitution - coding silent Lung COSM3547386 NCOA3 c.3928C>T p.P1310S Substitution - Missense Skin COSM3728123 MYST3 c.4766A>G p.Y1589C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34192 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM5546969 ZMYM3 c.591_592delGA p.E197fs*17 Deletion - Frameshift Prostate COSM1237068 KDM6A c.1655G>A p.S552N Substitution - Missense Parathyroid COSM4018300 KMT2A c.3962A>C p.K1321T Substitution - Missense Stomach COSM1123262 PHF8 c.2992C>T p.R998C Substitution - Missense Endometrium COSM1609421 FTO c.148A>C p.I50L Substitution - Missense Liver COSM1283497 ARID1A c.5825G>A p.G1942D Substitution - Missense Autonomic_ganglia COSM2064410 TDG c.235C>A p.P79T Substitution - Missense Upper_aerodigestive_tract COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM484896 TRIM24 c.1661A>C p.N554T Substitution - Missense Oesophagus COSM3091815 SMARCA2 c.2936G>A p.R979H Substitution - Missense Large_intestine COSM1483279 PCGF1 c.144C>T p.I48I Substitution - coding silent Breast COSM2177184 TRIM33 c.2579G>A p.G860E Substitution - Missense Large_intestine COSM315459 SMYD5 c.233G>A p.C78Y Substitution - Missense Soft_tissue COSM5704894 PRDM2 c.3401T>G p.F1134C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1705804 SMARCC2 c.1279C>T p.P427S Substitution - Missense Skin COSM245971 NCOR1 c.114C>T p.F38F Substitution - coding silent Prostate COSM985382 KDM6B c.2253_2258delCACCAC p.T761_T762delTT Deletion - In frame Upper_aerodigestive_tract COSM100082 KMT2C c.8390_8390delA p.K2797fs*26 Deletion - Frameshift Large_intestine COSM3880293 STK31 c.33C>T p.S11S Substitution - coding silent Stomach COSM1226928 SMYD5 c.76G>A p.D26N Substitution - Missense Large_intestine COSM4443455 ZBTB38 c.436G>T p.E146* Substitution - Nonsense Large_intestine COSM4792886 CHD6 c.1306A>T p.K436* Substitution - Nonsense Liver COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4456213 ACTR5 c.1000C>T p.L334L Substitution - coding silent Skin COSM4384728 KMT2D c.8473G>A p.G2825S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM328978 KMT2C c.8390delA p.K2797fs*26 Deletion - Frameshift Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33178 HAT1 c.949G>C p.A317P Substitution - Missense Large_intestine COSM4702046 MGMT c.294G>T p.V98V Substitution - coding silent Large_intestine COSM4982611 ZBTB4 c.1371T>C p.P457P Substitution - coding silent Oesophagus COSM5660169 CHD7 c.1418G>T p.G473V Substitution - Missense Soft_tissue COSM3754329 TP53BP1 c.5058T>A p.S1686S Substitution - coding silent Thyroid COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4632205 LMNB2 c.709G>A p.A237T Substitution - Missense Large_intestine COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4703388 MSL3 c.475C>T p.P159S Substitution - Missense Large_intestine COSM3938977 SP110 c.1552A>G p.I518V Substitution - Missense Oesophagus COSM4439945 MBD4 c.992G>A p.G331D Substitution - Missense Thyroid COSM4413601 ARID1A c.6493G>C p.E2165Q Substitution - Missense Endometrium COSM4576628 TDRD5 c.1470C>A p.I490I Substitution - coding silent Bone COSM3927754 BAZ2B c.977A>C p.H326P Substitution - Missense Prostate COSM3781660 BAP1 c.2057-5C>G p.? Unknown Pancreas COSM1616094 PRDM15 c.257C>G p.P86R Substitution - Missense Pancreas COSM2866901 TRRAP c.11148C>T p.S3716S Substitution - coding silent Skin COSM53031 EZH2 c.965A>G p.N322S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4385637 EZH2 c.1114_1115insC p.T374fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM219679 NCOA6 c.5423G>A p.R1808Q Substitution - Missense Breast COSM473300 PHF23 c.955G>C p.G319R Substitution - Missense Kidney COSM444025 ADNP c.2901C>T p.D967D Substitution - coding silent Breast COSM1725153 HNF1A c.1238C>T p.T413I Substitution - Missense Liver COSM3760322 TET2 c.5284A>G p.I1762V Substitution - Missense Prostate COSM4951351 BAZ2A c.308C>A p.S103* Substitution - Nonsense Liver COSM34090 IDH2 c.516G>T p.R172S Substitution - Missense Bone COSM966712 CHD2 c.3633G>T p.K1211N Substitution - Missense Endometrium COSM1158854 EPC1 c.1273T>G p.W425G Substitution - Missense Pancreas COSM1581653 SETD2 c.5376A>G p.I1792M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41845 TET2 c.? p.L1210P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM388478 EP400 c.4044G>T p.V1348V Substitution - coding silent Lung COSM4040268 EP400 c.4950G>A p.V1650V Substitution - coding silent Stomach COSM1325044 HDAC5 c.51G>A p.L17L Substitution - coding silent Ovary COSM4489479 CHD4 c.3481C>T p.H1161Y Substitution - Missense Skin COSM4550770 VPS72 c.508G>A p.E170K Substitution - Missense Skin COSM1440972 SHPRH c.495delA p.E166fs*3 Deletion - Frameshift Large_intestine COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM341361 BAP1 c.576C>T p.D192D Substitution - coding silent Lung COSM985377 KDM6B c.752_753insACCACC p.P264_L265insPP Insertion - In frame Endometrium COSM5518025 AP001011.3_ENST00000320876 c.23G>A p.G8E Substitution - Missense Biliary_tract COSM1161553 CHD1 c.346G>A p.A116T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2890650 PRMT2 c.275A>G p.D92G Substitution - Missense Large_intestine COSM4092241 SP110 c.1528A>G p.N510D Substitution - Missense Stomach COSM4592311 JARID2 c.2084C>G p.A695G Substitution - Missense Upper_aerodigestive_tract COSM310083 CHD6 c.2563T>C p.F855L Substitution - Missense Soft_tissue COSM5000890 PRMT1 c.117C>A p.H39Q Substitution - Missense Pancreas COSM3848329 TAF1L c.3764G>A p.R1255Q Substitution - Missense Breast COSM1195473 CHD3 c.5630C>T p.A1877V Substitution - Missense Lung COSM419517 TCF20 c.1291C>G p.H431D Substitution - Missense Urinary_tract COSM4788516 TDRD3 c.1664T>G p.M555R Substitution - Missense Liver COSM345420 HDAC11 c.967G>T p.G323W Substitution - Missense Lung COSM303208 SIRT6 c.404delA p.N135fs*25 Deletion - Frameshift Central_nervous_system COSM1008168 BAZ2B c.628C>T p.R210* Substitution - Nonsense Large_intestine COSM5623681 ARID1B c.780A>C p.G260G Substitution - coding silent Oesophagus COSM4000327 CBX4 c.871T>C p.S291P Substitution - Missense Upper_aerodigestive_tract COSM244642 GABRG1 c.730C>T p.R244W Substitution - Missense Prostate COSM325691 LMNB2 c.1689G>A p.M563I Substitution - Missense Lung COSM3814007 TDRD3 c.1574T>A p.I525K Substitution - Missense Breast COSM5916880 PRDM15 c.3596C>T p.S1199F Substitution - Missense Skin COSM4591023 KMT2C c.871C>T p.L291F Substitution - Missense Upper_aerodigestive_tract COSM3810195 KDM2A c.1318G>A p.D440N Substitution - Missense Breast COSM1640116 ARID4A c.1259delA p.D423fs*2 Deletion - Frameshift Stomach COSM1301958 CREBBP c.3427G>C p.D1143H Substitution - Missense Urinary_tract COSM5419432 ZBTB33 c.1312G>A p.G438S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5403286 PRDM9 c.2546G>A p.R849K Substitution - Missense Skin COSM5999137 KAT6B c.2738A>G p.Y913C Substitution - Missense Prostate COSM88749 CREBBP c.4336C>T p.R1446C Substitution - Missense Oesophagus COSM4746574 CHD4 c.1483-3_1483-2delCA p.? Unknown Stomach COSM1333118 TTF2 c.3273T>G p.N1091K Substitution - Missense Large_intestine COSM6002295 GTF3C1 c.5640G>A p.M1880I Substitution - Missense Prostate COSM268571 ACTB c.395T>C p.M132T Substitution - Missense Large_intestine COSM1334660 ASH1L c.3665delA p.K1222fs*11 Deletion - Frameshift Biliary_tract COSM5008115 TAF1L c.4322C>G p.T1441S Substitution - Missense Large_intestine COSM738289 PRDM9 c.194-1G>C p.? Unknown Lung COSM4383909 TET2 c.3626delT p.L1209fs*17 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5416902 TIF1 c.662T>C p.V221A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM300783 MSL3 c.1550C>T p.P517L Substitution - Missense Large_intestine COSM5963292 JMJD1C c.4824G>A p.V1608V Substitution - coding silent Breast COSM908368 PRDM16 c.2891C>T p.A964V Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2067812 ARID2 c.1592A>G p.H531R Substitution - Missense Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4586100 PRDM13 c.1671G>C p.G557G Substitution - coding silent Bone COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM327767 ARID1A c.5425T>C p.F1809L Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5921170 KDM6B c.2192C>T p.S731F Substitution - Missense Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3457183 KDM2B c.1275G>A p.P425P Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM989 SMARCB1 c.1130G>A p.R377H Substitution - Missense Biliary_tract COSM1109649 KDM4C c.2661G>A p.T887T Substitution - coding silent Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1734393 NIPBL c.6455G>A p.R2152Q Substitution - Missense Pancreas COSM251412 ARID2 c.1073C>G p.T358S Substitution - Missense Liver COSM4147009 PRMT8 c.197A>C p.N66T Substitution - Missense Thyroid COSM4579083 CHD9 c.469G>A p.V157M Substitution - Missense Bone COSM3790614 PWWP2B c.1645G>A p.E549K Substitution - Missense Urinary_tract COSM5708931 SETD5_ENST00000402198 c.1837C>T p.P613S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3339749 DUSP1 c.1050G>A p.T350T Substitution - coding silent Stomach COSM3645235 PHF20L1 c.136C>T p.H46Y Substitution - Missense Skin COSM1125406 ATRX c.6137C>A p.S2046Y Substitution - Missense Endometrium COSM1318923 DNMT3A c.1403A>G p.K468R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM110735 BAP1 c.1379C>G p.S460* Substitution - Nonsense Pleura COSM3833174 BAZ1B c.3419T>C p.V1140A Substitution - Missense Breast COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Breast COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Breast COSM5977572 ATRX c.1868A>G p.K623R Substitution - Missense Upper_aerodigestive_tract COSM3777037 HDAC2 c.610G>A p.E204K Substitution - Missense Urinary_tract COSM4385100 ASXL1 c.2320A>T p.R774* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5654611 BRWD3 c.2836-2A>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4411410 EPC1 c.2204T>A p.L735Q Substitution - Missense Kidney COSM13840 ATRX c.3523A>G p.K1175E Substitution - Missense Breast COSM4793397 ADNP c.1754A>G p.N585S Substitution - Missense Liver COSM21300 TRRAP c.7323C>T p.F2441F Substitution - coding silent Skin COSM32419 TP53BP1 c.4747C>T p.R1583* Substitution - Nonsense Large_intestine COSM1002 SMARCB1 c.118C>T p.R40* Substitution - Nonsense Central_nervous_system COSM22649 MEN1 c.1169_1170ins11 p.G391fs*58 Insertion - Frameshift Parathyroid COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM36205 ASXL1 c.3306G>T p.E1102D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1010 SMARCB1 c.174_175delAG p.E58fs*12 Deletion - Frameshift Central_nervous_system COSM52980 EZH2 c.2069G>A p.R690H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM97849 HDAC6 c.619A>T p.M207L Substitution - Missense Upper_aerodigestive_tract COSM87960 KMT2C c.7825C>T p.R2609* Substitution - Nonsense Prostate COSM88086 KMT2D c.15485G>A p.R5162Q Substitution - Missense Central_nervous_system COSM112087 TDG c.286_287insA p.I98fs*6 Insertion - Frameshift Upper_aerodigestive_tract COSM128390 LMNB2 c.1551G>A p.G517G Substitution - coding silent Upper_aerodigestive_tract COSM132700 HDAC2 c.782A>C p.Q261P Substitution - Missense Central_nervous_system COSM146277 RAI1 c.840delG p.Q280fs*84 Deletion - Frameshift Kidney COSM201010 ING1 c.586C>T p.R196* Substitution - Nonsense Stomach COSM225744 NCOR1 c.5263C>T p.R1755C Substitution - Missense Breast COSM255944 EYA2 c.597G>A p.T199T Substitution - coding silent Central_nervous_system COSM273061 ORC1 c.1331G>A p.R444Q Substitution - Missense Large_intestine COSM302470 KDM6A c.3646G>T p.D1216Y Substitution - Missense Central_nervous_system COSM310891 EP400 c.2969G>A p.R990H Substitution - Missense Lung COSM311726 HDAC6 c.2409A>C p.P803P Substitution - coding silent Central_nervous_system COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Large_intestine COSM318346 CREBBP c.4179C>G p.T1393T Substitution - coding silent Lung COSM319882 DIDO1 c.3750C>G p.D1250E Substitution - Missense Lung COSM345592 PRMT10 c.2427G>A p.W809* Substitution - Nonsense Lung COSM356855 BPTF c.5295C>T p.I1765I Substitution - coding silent Lung COSM423266 PBRM1 c.773_774insA p.N258fs*6 Insertion - Frameshift Small_intestine COSM426208 MEAF6 c.120C>G p.I40M Substitution - Missense Breast COSM442969 MSH6 c.2092C>G p.Q698E Substitution - Missense Breast COSM457091 MECP2 c.894G>C p.E298D Substitution - Missense Breast COSM1600787 VPS72 c.1067C>T p.A356V Substitution - Missense Liver COSM941737 BAZ2A c.4395G>A p.Q1465Q Substitution - coding silent Endometrium COSM1028939 C20orf20 c.600G>T p.K200N Substitution - Missense Endometrium COSM1014075 TET2 c.2055_2056insA p.R686fs*7 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM937491 ATF7IP c.43C>T p.R15* Substitution - Nonsense Endometrium COSM1018631 HDAC4 c.1043C>T p.S348L Substitution - Missense Endometrium COSM725722 PRMT2 c.479G>T p.R160L Substitution - Missense Lung COSM720948 HDAC4 c.319C>A p.Q107K Substitution - Missense Lung COSM912825 RERE c.102T>A p.N34K Substitution - Missense Endometrium COSM908687 ZMYM4 c.4644T>C p.D1548D Substitution - coding silent Endometrium COSM990759 SMARCA4 c.4158G>A p.K1386K Substitution - coding silent Endometrium COSM961981 TP53BP1 c.1746T>C p.N582N Substitution - coding silent Endometrium COSM971264 BRD7 c.877G>T p.E293* Substitution - Nonsense Endometrium COSM1108245 TAF1L c.1673G>A p.R558Q Substitution - Missense Large_intestine COSM1128336 YY1 c.759A>G p.E253E Substitution - coding silent Lung COSM1088183 HDAC9 c.1720T>C p.F574L Substitution - Missense Endometrium COSM1265323 SETBP1 c.4023A>C p.K1341N Substitution - Missense Oesophagus COSM1214641 MBD5 c.2158A>G p.T720A Substitution - Missense Large_intestine COSM1185897 MSH6 c.1721C>G p.S574* Substitution - Nonsense Lung COSM1606379 SMARCC2 c.1984C>T p.Q662* Substitution - Nonsense Liver COSM1318618 TET2 c.4055A>T p.E1352V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM42029 TET2 c.3646C>T p.R1216* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1406740 ATAD2B_ENST00000238789 c.1833C>T p.A611A Substitution - coding silent Large_intestine COSM1414081 BRWD1 c.6739G>A p.V2247M Substitution - Missense Large_intestine COSM1429108 WHSC1 c.3842C>A p.P1281H Substitution - Missense Large_intestine COSM1440257 NCOA7 c.1998A>C p.P666P Substitution - coding silent Large_intestine COSM1356506 SUV420H1 c.914G>A p.C305Y Substitution - Missense Large_intestine COSM1561753 EP400 c.8903G>A p.G2968D Substitution - Missense Large_intestine COSM1490761 SCML2 c.256A>G p.I86V Substitution - Missense Breast COSM1476837 CHD4 c.2630G>A p.R877Q Substitution - Missense Breast COSM1609877 NCOR1 c.1714C>T p.R572* Substitution - Nonsense Liver COSM1638240 CHD9 c.668A>G p.Q223R Substitution - Missense Bone COSM1641075 BRD4 c.618G>A p.P206P Substitution - coding silent Stomach COSM1681830 DIDO1 c.4167G>T p.E1389D Substitution - Missense Breast COSM1711335 CXXC1 c.1430G>T p.S477I Substitution - Missense Skin COSM1697723 PRDM1 c.38G>A p.W13* Substitution - Nonsense Skin COSM1754382 PRDM13 c.1764C>T p.L588L Substitution - coding silent Urinary_tract COSM1935765 SMARCC2 c.2364G>T p.E788D Substitution - Missense Pancreas COSM2078400 PRDM16 c.1574G>A p.R525Q Substitution - Missense Stomach COSM2157369 TAF1 c.5291T>G p.M1764R Substitution - Missense Central_nervous_system COSM2801210 PHF12 c.313C>T p.R105C Substitution - Missense Skin COSM2793023 TDRD7 c.1086G>A p.P362P Substitution - coding silent Large_intestine COSM2828730 SETD5_ENST00000402198 c.261A>G p.E87E Substitution - coding silent Upper_aerodigestive_tract COSM2894230 ATF2 c.528T>C p.L176L Substitution - coding silent Upper_aerodigestive_tract COSM3035793 SCML2 c.918A>T p.P306P Substitution - coding silent Large_intestine COSM3126259 SMARCA5 c.1679G>A p.R560H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3095765 TAF1 c.2871G>T p.T957T Substitution - coding silent Large_intestine COSM3188365 KAT2A c.2458G>A p.A820T Substitution - Missense Large_intestine COSM3296145 MBD5 c.1643G>A p.S548N Substitution - Missense Upper_aerodigestive_tract COSM3294891 ZMYND8 c.2025C>T p.S675S Substitution - coding silent Upper_aerodigestive_tract COSM3360984 PHF13 c.110C>T p.A37V Substitution - Missense Kidney COSM3365258 PBRM1 c.1854C>T p.L618L Substitution - coding silent Kidney COSM3365360 SETD2 c.103G>T p.G35* Substitution - Nonsense Kidney COSM3382795 TRDMT1 c.1021C>T p.R341* Substitution - Nonsense Pancreas COSM3479283 TDRD5 c.878G>A p.G293E Substitution - Missense Skin COSM3420942 SRCAP c.7398A>G p.V2466V Substitution - coding silent Large_intestine COSM3604096 GABRG1 c.573G>A p.Q191Q Substitution - coding silent Skin COSM3531610 DOT1L c.3749A>G p.D1250G Substitution - Missense Skin COSM3722551 KMT2D c.6669G>T p.G2223G Substitution - coding silent Soft_tissue COSM3720992 BTAF1 c.1687A>T p.M563L Substitution - Missense Upper_aerodigestive_tract COSM3781303 KMT2C c.754C>A p.H252N Substitution - Missense Pancreas COSM3801351 TRIM33 c.2929G>T p.E977* Substitution - Nonsense Breast COSM3868046 BTAF1 c.2127C>T p.S709S Substitution - coding silent Skin COSM3831627 PHF14 c.1485T>C p.C495C Substitution - coding silent Breast COSM3843335 MSL3 c.765G>A p.K255K Substitution - coding silent Breast COSM3880294 STK31 c.61A>T p.I21F Substitution - Missense Stomach COSM3901351 NCOA2 c.506C>T p.T169M Substitution - Missense Stomach COSM3972772 BRWD1 c.3556G>A p.A1186T Substitution - Missense Central_nervous_system COSM4022237 POGZ c.2793G>A p.P931P Substitution - coding silent Stomach COSM4012800 PWWP2B c.1341G>A p.S447S Substitution - coding silent Stomach COSM4008812 ORC1 c.790C>T p.R264W Substitution - Missense Stomach COSM4042135 HDAC7 c.674C>T p.S225L Substitution - Missense Stomach COSM3987573 PRMT5 c.248T>C p.V83A Substitution - Missense Kidney COSM4098468 CHD6 c.1359C>T p.R453R Substitution - coding silent Stomach COSM4101443 SETD4 c.535T>C p.S179P Substitution - Missense Stomach COSM4104559 TCF20 c.1897G>A p.A633T Substitution - Missense Stomach COSM4118101 SMARCC1 c.1003A>G p.T335A Substitution - Missense Stomach COSM4064272 SMYD4 c.692C>T p.A231V Substitution - Missense Stomach COSM4129609 NCOR1 c.568C>T p.R190* Substitution - Nonsense Thyroid COSM4140084 SETBP1 c.3514G>C p.G1172R Substitution - Missense Ovary COSM4383873 TET2 c.2803G>T p.G935* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4384296 EZH2 c.458A>G p.Y153C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4391605 RBBP4 c.207G>T p.G69G Substitution - coding silent Breast COSM4603241 KDM6B c.761_762insACCACC p.P264_L265insPP Insertion - In frame Upper_aerodigestive_tract COSM4418543 KIAA2026_ENST00000399933 c.2383-8A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4593164 EP400 c.6637A>C p.T2213P Substitution - Missense Upper_aerodigestive_tract COSM4487111 BPTF c.2762C>T p.P921L Substitution - Missense Skin COSM4462439 BRWD3 c.1247C>T p.S416F Substitution - Missense Skin COSM4476991 PHF15 c.2110C>T p.P704S Substitution - Missense Skin COSM4411402 BRPF3 c.2653A>G p.K885E Substitution - Missense Kidney COSM4410866 KDM2B c.2805delT p.H936fs*4 Deletion - Frameshift Kidney COSM4718411 PSIP1 c.211C>T p.P71S Substitution - Missense Large_intestine COSM4769957 BAZ2B c.2359A>G p.I787V Substitution - Missense Biliary_tract COSM4728429 SMCHD1 c.469A>G p.R157G Substitution - Missense Large_intestine COSM4654271 BAZ1B c.1365G>T p.R455R Substitution - coding silent Large_intestine COSM4654889 PRMT10 c.1714A>G p.S572G Substitution - Missense Large_intestine COSM4917729 L3MBTL3 c.2156G>C p.S719T Substitution - Missense Liver COSM4926457 L3MBTL3 c.778A>T p.N260Y Substitution - Missense Liver COSM4950200 MLL5 c.4640C>T p.P1547L Substitution - Missense Liver COSM4950827 ARID2 c.2992G>A p.G998R Substitution - Missense Liver COSM5031017 ASXL1 c.1542_1543delTG p.V515fs*13 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5007088 EP300 c.5698A>T p.K1900* Substitution - Nonsense Large_intestine COSM5046897 KMT2D c.9495C>G p.I3165M Substitution - Missense Oesophagus COSM5352132 KDM2B c.1451G>A p.W484* Substitution - Nonsense Kidney COSM5374669 EP400 c.2794C>T p.H932Y Substitution - Missense Skin COSM5358472 MLL5 c.395T>C p.M132T Substitution - Missense Large_intestine COSM5471221 EYA2 c.1156C>T p.R386W Substitution - Missense Large_intestine COSM5450622 SMARCA1 c.1551T>G p.I517M Substitution - Missense Large_intestine COSM5576203 TRRAP c.8165C>T p.P2722L Substitution - Missense Stomach COSM5751236 PHF6 c.821G>AG p.R274fs*20 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM5756730 HDAC2 c.577C>T p.R193C Substitution - Missense Large_intestine COSM5771753 MYST2 c.537C>A p.Y179* Substitution - Nonsense Breast COSM5748960 ZMYM3 c.2206C>T p.R736C Substitution - Missense Pancreas COSM5607879 ARID2 c.3196C>T p.P1066S Substitution - Missense Skin COSM5675864 PRDM12 c.1038_1040delGCT p.L347delL Deletion - In frame Soft_tissue COSM5762260 ATRX c.6699+1G>A p.? Unknown Central_nervous_system COSM5880293 NCOR1 c.3222C>A p.Y1074* Substitution - Nonsense Skin COSM5806987 PRDM14 c.363C>G p.Y121* Substitution - Nonsense Liver COSM5944230 DNMT3A c.1506delT p.T503fs*148 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5947354 KMT2D c.9558_9559ins10 p.L3187fs*14 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5920513 PRDM4 c.1000C>T p.Q334* Substitution - Nonsense Skin COSM5996701 ARID1B c.2763G>A p.T921T Substitution - coding silent Prostate COSM6018513 PHF8 c.2900A>G p.N967S Substitution - Missense Skin COSM1716802 TET2 c.? p.Q591* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM1735696 SMARCA4 c.? p.S828F Nonstop extension Skin COSM1738140 EZH2 c.? p.A255T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51384 IDH1 c.? p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5916915 TCF20 c.1457C>T p.S486F Substitution - Missense Skin COSM3812849 CHD4 c.800G>T p.G267V Substitution - Missense Breast COSM318491 ACTL6B c.26-2A>T p.? Unknown Lung COSM1636997 IDH2 c.515G>C p.R172T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1479124 CDYL2 c.739T>G p.C247G Substitution - Missense Breast COSM5357583 TDRD6 c.438G>A p.P146P Substitution - coding silent Large_intestine COSM1167951 ARID2 c.2611C>T p.Q871* Substitution - Nonsense Skin COSM1051853 PRMT10 c.1526G>T p.S509I Substitution - Missense Endometrium COSM3751642 PWWP2B c.292C>G p.R98G Substitution - Missense Large_intestine COSM1710868 CBX2 c.302C>T p.P101L Substitution - Missense Skin COSM3934052 PRDM2 c.4241C>G p.S1414W Substitution - Missense Oesophagus COSM146261 ASXL1 c.2058_2059delGT p.C687fs*30 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2720160 CHD7 c.8213C>T p.T2738M Substitution - Missense Stomach COSM3508973 SETD1A c.1142C>T p.S381F Substitution - Missense Skin COSM430521 HNF1A c.51C>G p.L17L Substitution - coding silent Liver COSM3457168 KDM2B c.2300C>T p.S767F Substitution - Missense Skin COSM33477 KMT2C c.1433T>G p.L478W Substitution - Missense Large_intestine COSM4656074 SIRT1 c.306C>T p.D102D Substitution - coding silent Large_intestine COSM245709 KMT2C c.13645C>T p.R4549C Substitution - Missense Skin COSM87011 DNMT3A c.2141C>G p.S714C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1312871 KMT2C c.6109G>C p.D2037H Substitution - Missense Urinary_tract COSM267293 PYGO2 c.448_449insC p.Q150fs*27 Insertion - Frameshift Large_intestine COSM3977616 ZMYM1 c.291G>T p.Q97H Substitution - Missense Lung COSM939014 KDM5A c.4221G>T p.K1407N Substitution - Missense Endometrium COSM5042002 BRD9 c.328G>A p.A110T Substitution - Missense Liver COSM4461253 BRPF3 c.1199C>T p.S400F Substitution - Missense Skin COSM5945618 PHF6 c.824G>T p.G275V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4826173 MUM1 c.707C>T p.S236L Substitution - Missense Upper_aerodigestive_tract COSM4777648 ZMYM4 c.346delA p.R116fs*19 Deletion - Frameshift Prostate COSM1741789 CREBBP c.4094C>G p.S1365* Substitution - Nonsense Urinary_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM3720607 TET2 c.2715_2716insA p.M906fs*18 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5885053 KDM5C c.4652G>A p.C1551Y Substitution - Missense Large_intestine COSM3650084 CHD7 c.6770C>T p.P2257L Substitution - Missense Skin COSM5878935 TET2 c.1107_1108delGT p.Y370fs*5 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4586942 PHIP c.3805A>G p.I1269V Substitution - Missense Bone COSM4780076 SETD1A c.3505T>G p.S1169A Substitution - Missense Liver COSM1391144 MBD3 c.36G>A p.P12P Substitution - coding silent Large_intestine COSM608350 TAF1L c.2053C>T p.R685C Substitution - Missense Endometrium COSM1107431 PSIP1 c.112A>C p.N38H Substitution - Missense Endometrium COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3407878 MSH6 c.965C>T p.A322V Substitution - Missense Central_nervous_system COSM708767 CHD3 c.1933G>T p.G645W Substitution - Missense Lung COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4701021 MBTD1 c.707C>A p.T236K Substitution - Missense Large_intestine COSM3424963 ATRX c.1729A>C p.K577Q Substitution - Missense Large_intestine COSM1600294 ASXL3 c.877G>A p.E293K Substitution - Missense Central_nervous_system COSM5697188 PRDM9 c.2280G>A p.K760K Substitution - coding silent Soft_tissue COSM5762875 EP300 c.2091T>G p.S697R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2961645 MYST3 c.5910T>A p.P1970P Substitution - coding silent Upper_aerodigestive_tract COSM3304729 KMT2C c.415T>C p.C139R Substitution - Missense Large_intestine COSM5409828 NCOA2 c.1966C>T p.P656S Substitution - Missense Skin COSM203725 RUVBL1 c.349C>T p.R117C Substitution - Missense Large_intestine COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM2777620 KIAA2026_ENST00000399933 c.1026G>A p.S342S Substitution - coding silent Large_intestine COSM1296226 ARID1A c.4087C>T p.Q1363* Substitution - Nonsense Urinary_tract COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM221796 TDG c.602A>C p.K201T Substitution - Missense Skin COSM130409 TET2 c.2116C>T p.Q706* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5985640 KMT2D c.? p.V2522I Substitution - Missense Salivary_gland COSM1411828 CHD6 c.7340G>A p.R2447Q Substitution - Missense Large_intestine COSM5502186 ARID1A c.1055G>A p.G352E Substitution - Missense Biliary_tract COSM5701608 GTF3C1 c.5324_5325GG>TT p.G1775V Substitution - Missense Soft_tissue COSM5565805 ACTR6 c.107G>A p.R36H Substitution - Missense Prostate COSM1318847 ASXL1 c.2197C>T p.Q733* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5344141 HDAC4 c.2469G>T p.K823N Substitution - Missense Large_intestine COSM1716631 ATRX c.1074_1077delACTG p.I360fs*6 Deletion - Frameshift Central_nervous_system COSM704899 NCOR1 c.436G>T p.D146Y Substitution - Missense Lung COSM710142 CARM1 c.1665G>C p.M555I Substitution - Missense Lung COSM4955678 TAF1 c.2926A>C p.K976Q Substitution - Missense Liver COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4169414 HNF1A c.? p.E66D Substitution - Missense Skin COSM4591406 DIDO1 c.4867G>A p.E1623K Substitution - Missense Upper_aerodigestive_tract COSM4895316 BRD4 c.2117C>T p.S706F Substitution - Missense Skin COSM5618553 BRD4 c.449C>T p.A150V Substitution - Missense Breast COSM41740 TET2 c.4913C>A p.S1638* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5563605 SMARCA5 c.1023G>C p.Q341H Substitution - Missense Prostate COSM4502816 CREBBP c.6237C>T p.S2079S Substitution - coding silent Skin COSM1060226 LMNB1 c.1732G>A p.A578T Substitution - Missense Endometrium COSM5762949 TET2 c.769A>G p.T257A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5635845 KMT2A c.11611C>T p.R3871W Substitution - Missense Oesophagus COSM5990554 NCOA3 c.3947-10delT p.? Unknown Liver COSM315106 SETD1A c.4484G>T p.R1495L Substitution - Missense Lung COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4558628 CBX8 c.774G>T p.L258L Substitution - coding silent Skin COSM4110910 TAF1 c.3670C>T p.R1224W Substitution - Missense Stomach COSM4694957 KDM4B c.79G>T p.D27Y Substitution - Missense Large_intestine COSM1221899 PRDM8 c.352C>T p.R118C Substitution - Missense Large_intestine COSM4849613 SMARCB1 c.475G>A p.D159N Substitution - Missense Cervix COSM732046 TET2 c.367C>A p.R123S Substitution - Missense Lung COSM1296220 ARID1A c.1696C>T p.Q566* Substitution - Nonsense Urinary_tract COSM96432 EP300 c.? p.? Unknown Large_intestine COSM4042129 HDAC7 c.1746T>C p.S582S Substitution - coding silent Stomach COSM2039002 MTA2 c.238C>T p.R80C Substitution - Missense Large_intestine COSM85813 DAXX c.166A>T p.K56* Substitution - Nonsense Pancreas COSM1007236 MBD5 c.3226G>A p.V1076I Substitution - Missense Endometrium COSM5567406 KDM5A c.4282A>T p.S1428C Substitution - Missense Prostate COSM4188738 GABRG1 c.995C>T p.A332V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3958676 BPTF c.4506G>A p.E1502E Substitution - coding silent Lung COSM4384690 KMT2D c.15202T>C p.C5068R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3371544 TRIM28 c.402C>A p.F134L Substitution - Missense Thyroid COSM1049130 BRPF1 c.1472G>A p.R491Q Substitution - Missense Endometrium COSM1377529 SETD1A c.2049G>T p.Q683H Substitution - Missense Large_intestine COSM4846250 BMI1 c.847C>T p.H283Y Substitution - Missense Cervix COSM5427676 TDRD5 c.1630C>T p.R544W Substitution - Missense Breast COSM1620722 PRDM1 c.756C>T p.S252S Substitution - coding silent Liver COSM3907647 KDM4C c.2555A>G p.D852G Substitution - Missense Stomach COSM3923318 HDAC9 c.2428G>A p.D810N Substitution - Missense Skin COSM5566138 SMYD1 c.1384C>T p.R462C Substitution - Missense Prostate COSM123963 KIAA2026_ENST00000399933 c.701G>A p.R234Q Substitution - Missense Upper_aerodigestive_tract COSM4095756 INO80B c.44C>T p.A15V Substitution - Missense Stomach COSM1557537 KDM6A c.3961G>T p.G1321W Substitution - Missense Lung COSM4713968 PHF2 c.460+2T>C p.? Unknown Large_intestine COSM1103 SMARCB1 c.?_?del? p.?del Deletion - In frame Soft_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4657240 MSH6 c.2320C>T p.L774L Substitution - coding silent Large_intestine COSM211740 TET2 c.4908_4909ins58 p.S1638fs*42 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1201428 CLOCK c.2135A>C p.K712T Substitution - Missense Large_intestine COSM4606212 KMT2D c.15528+5G>A p.? Unknown Upper_aerodigestive_tract COSM379428 TRRAP c.8459C>T p.T2820M Substitution - Missense Lung COSM2006563 KMT2D c.15659_15660delAA p.K5220fs*21 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM52998 EZH2 c.1992T>A p.D664E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1436884 PRDM9 c.1315C>T p.Q439* Substitution - Nonsense Large_intestine COSM1026844 CHD6 c.7511C>T p.T2504M Substitution - Missense Endometrium COSM1307483 ZMYND8 c.1989G>C p.E663D Substitution - Missense Urinary_tract COSM976132 RAI1 c.5170C>T p.R1724W Substitution - Missense Endometrium COSM1330047 TIF1 c.1935A>C p.V645V Substitution - coding silent Ovary COSM4410278 KMT2D c.9765G>A p.L3255L Substitution - coding silent Bone COSM3755439 PCGF2 c.435C>T p.D145D Substitution - coding silent Kidney COSM4736044 TRIM33 c.2455_2456delTC p.S819fs*8 Deletion - Frameshift Large_intestine COSM3649309 MYST3 c.209C>T p.S70F Substitution - Missense Skin COSM4644759 ACTL6B c.38C>T p.A13V Substitution - Missense Large_intestine COSM5972494 BAHCC1 c.4089G>A p.P1363P Substitution - coding silent Upper_aerodigestive_tract COSM5656032 PSIP1 c.831A>G p.E277E Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1680029 BPTF c.3069A>C p.K1023N Substitution - Missense Large_intestine COSM4944762 BRD7 c.1365T>A p.Y455* Substitution - Nonsense Liver COSM1351671 KMT2A c.10817A>G p.Q3606R Substitution - Missense Large_intestine COSM1755551 ATAD2 c.2626A>T p.T876S Substitution - Missense Urinary_tract COSM81329 KDM3A c.2628C>G p.P876P Substitution - coding silent Ovary COSM3906176 EHMT1 c.2035G>A p.G679S Substitution - Missense Stomach COSM1169216 IDH1 c.394_395CG>TC p.R132S Substitution - Missense Central_nervous_system COSM49155 EZH2 c.2025C>A p.N675K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3520814 SMARCD2 c.177C>T p.F59F Substitution - coding silent Skin COSM74540 ERCC6 c.1669C>G p.R557G Substitution - Missense Ovary COSM5640852 ARID2 c.4005A>G p.A1335A Substitution - coding silent Oesophagus COSM1669701 IDH1 c.782C>T p.S261L Substitution - Missense Large_intestine COSM5762964 TET2 c.3845G>T p.G1282V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5995578 TET2 c.4947T>G p.Y1649* Substitution - Nonsense Prostate COSM1245558 ASH1L c.6387T>C p.C2129C Substitution - coding silent Oesophagus COSM3976199 ASH1L c.1789G>C p.E597Q Substitution - Missense Lung COSM468037 EP400 c.8226A>G p.Q2742Q Substitution - coding silent Prostate COSM680179 ARID1A c.1473C>A p.S491S Substitution - coding silent Lung COSM5721616 PHRF1 c.2982C>T p.S994S Substitution - coding silent Skin COSM473835 SETBP1 c.2100T>G p.P700P Substitution - coding silent Kidney COSM346893 HDAC9 c.1541G>A p.G514E Substitution - Missense Lung COSM5020013 TET2 c.5162T>G p.L1721W Substitution - Missense Soft_tissue COSM5011556 NSD1 c.5671G>T p.E1891* Substitution - Nonsense Kidney COSM144567 PHF6 c.820C>T p.R274* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4789026 PRDM1 c.1928G>A p.R643H Substitution - Missense Prostate COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5702561 CREBBP c.4561-1G>A p.? Unknown Liver COSM272705 FXR1 c.364delA p.N124fs*14 Deletion - Frameshift Large_intestine COSM4720574 RBBP5 c.1096+2T>C p.? Unknown Large_intestine COSM5915688 KMT2C c.11668C>A p.Q3890K Substitution - Missense Skin COSM3554901 L3MBTL2 c.1529G>T p.W510L Substitution - Missense Skin COSM1671899 KDM3B c.2817C>A p.F939L Substitution - Missense Large_intestine COSM480797 PRDM5 c.106G>A p.G36R Substitution - Missense Oesophagus COSM1007239 MBD5 c.3660C>T p.G1220G Substitution - coding silent Endometrium COSM3807619 SFMBT2 c.765A>C p.P255P Substitution - coding silent Breast COSM3021743 JARID2 c.466G>A p.D156N Substitution - Missense Large_intestine COSM4551151 ATF7IP c.51G>A p.T17T Substitution - coding silent Skin COSM1181044 KMT2C c.13488delT p.F4496fs*21 Deletion - Frameshift Skin COSM1609554 PRMT7 c.751G>A p.D251N Substitution - Missense Liver COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5878851 DNMT3A c.1122+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3731539 KDM6A c.2338C>A p.L780I Substitution - Missense Stomach COSM175512 EHMT2 c.2218C>T p.R740C Substitution - Missense Large_intestine COSM5941426 CHD6 c.2143C>T p.L715F Substitution - Missense Skin COSM3455334 TDG c.280A>T p.K94* Substitution - Nonsense Skin COSM1462674 UHRF2 c.915C>T p.I305I Substitution - coding silent Large_intestine COSM4742979 ZMYND8 c.3080C>T p.A1027V Substitution - Missense Large_intestine COSM5343405 KDM4B c.2027C>T p.A676V Substitution - Missense Large_intestine COSM5662890 PRDM9 c.1425C>A p.A475A Substitution - coding silent Soft_tissue COSM3636521 KMT2C c.3042G>A p.G1014G Substitution - coding silent Skin COSM255240 GABRG1 c.143C>T p.T48M Substitution - Missense Upper_aerodigestive_tract COSM1220346 PHF15 c.203A>C p.Q68P Substitution - Missense Large_intestine COSM1125469 ATRX c.3137G>T p.S1046I Substitution - Missense Endometrium COSM3519923 AKAP1 c.27C>T p.F9F Substitution - coding silent Skin COSM1228657 TBL1XR1 c.1051G>T p.E351* Substitution - Nonsense Large_intestine COSM1708023 INOC1 c.3163C>T p.P1055S Substitution - Missense Skin COSM1443308 BAG6 c.2824delC p.Q942fs*85 Deletion - Frameshift Large_intestine COSM4970609 TCF19 c.1003C>T p.R335* Substitution - Nonsense Central_nervous_system COSM5661820 HNF1A c.802T>A p.F268I Substitution - Missense Soft_tissue COSM742762 TDRD6 c.6283G>T p.E2095* Substitution - Nonsense Lung COSM5691115 RERE c.4260C>T p.F1420F Substitution - coding silent Soft_tissue COSM3740223 DIDO1 c.2865C>T p.S955S Substitution - coding silent Liver COSM5765732 ASXL3 c.315A>C p.T105T Substitution - coding silent Large_intestine COSM970568 CREBBP c.4317C>A p.F1439L Substitution - Missense Endometrium COSM1315847 ASXL1 c.4382C>T p.P1461L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM132978 ASXL1 c.? p.R965* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1245600 ASXL1 c.3160A>G p.T1054A Substitution - Missense Oesophagus COSM4167263 TET2 c.? p.A1264fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM315834 TCF19 c.323G>A p.G108E Substitution - Missense Lung COSM987913 ASXL3 c.1630A>G p.T544A Substitution - Missense Endometrium COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5062140 ING3 c.679A>G p.M227V Substitution - Missense Stomach COSM3971188 KDM4B c.1656G>A p.E552E Substitution - coding silent Central_nervous_system COSM4637696 APOBEC1 c.119A>G p.Y40C Substitution - Missense Large_intestine COSM1293058 ZMYM3 c.1195C>T p.Q399* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5878870 DNMT3A c.875T>C p.I292T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5427628 BRWD1 c.4531T>C p.S1511P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1749705 CTCF c.1231A>G p.I411V Substitution - Missense Urinary_tract COSM2965385 KDM6A c.2264C>T p.T755M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3414388 SMYD1 c.137+4T>C p.? Unknown Oesophagus COSM3810833 HCFC2 c.1202C>G p.S401* Substitution - Nonsense Breast COSM5122396 EHMT2 c.491G>T p.G164V Substitution - Missense Large_intestine COSM941563 SMARCC2 c.1210G>A p.G404R Substitution - Missense Endometrium COSM4967885 ATRX c.2431C>T p.Q811* Substitution - Nonsense Bone COSM5574172 ARID1A c.5606G>A p.R1869Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4665234 BAZ2B c.2464C>T p.Q822* Substitution - Nonsense Large_intestine COSM5567491 KMT2C c.4850C>G p.S1617* Substitution - Nonsense Prostate COSM5990044 ASXL1 c.3170_3171insT p.G1058fs*29 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5053580 ORC1 c.2295G>A p.T765T Substitution - coding silent Stomach COSM3583868 SMYD1 c.888G>A p.K296K Substitution - coding silent Skin COSM577388 CHD6 c.5743G>T p.G1915* Substitution - Nonsense Large_intestine COSM405140 ARID1B c.769_789del21 p.G257_G263delGGGGGSG Deletion - In frame Lung COSM352124 SP140 c.357C>A p.N119K Substitution - Missense Lung COSM4404140 CHD4 c.2644C>T p.Q882* Substitution - Nonsense Skin COSM3166387 ATAD2 c.294A>T p.Q98H Substitution - Missense Bone COSM419075 SMYD1 c.341T>G p.V114G Substitution - Missense Upper_aerodigestive_tract COSM221582 DNMT3A c.2678G>C p.W893S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5429812 SMYD2 c.1033C>G p.Q345E Substitution - Missense Oesophagus COSM146934 ERCC6 c.2751C>T p.G917G Substitution - coding silent Soft_tissue COSM1258615 MYST1 c.165delG p.E56fs*20 Deletion - Frameshift Oesophagus COSM5351811 NIPBL c.6892C>T p.R2298C Substitution - Missense Kidney COSM5661891 DOT1L c.3335C>T p.S1112F Substitution - Missense Soft_tissue COSM3501424 TP53BP1 c.2352C>T p.S784S Substitution - coding silent Skin COSM1122161 SUV39H1 c.1183C>T p.R395W Substitution - Missense Endometrium COSM299530 STK31 c.1833+7T>A p.? Unknown Large_intestine COSM4128244 HDAC4 c.2938G>A p.A980T Substitution - Missense Ovary COSM5766088 BRD3 c.1880G>A p.R627Q Substitution - Missense Large_intestine COSM4763038 LMNA c.727G>A p.D243N Substitution - Missense Stomach COSM4788675 ASXL3 c.2764A>C p.K922Q Substitution - Missense Liver COSM111693 KAT6B c.3289_3291delGAA p.E1097delE Deletion - In frame Upper_aerodigestive_tract COSM5831039 SMARCA2 c.683_684insGCC p.Q228_Q229insP Insertion - In frame Large_intestine COSM3821019 SIRT7 c.517C>A p.H173N Substitution - Missense Breast COSM5690371 SETBP1 c.928G>C p.G310R Substitution - Missense Soft_tissue COSM3255725 PHF14 c.457C>G p.P153A Substitution - Missense Large_intestine COSM1129937 DOT1L c.1225C>T p.R409C Substitution - Missense Prostate COSM1489933 TAF1L c.2902G>C p.E968Q Substitution - Missense Breast COSM907683 ARID1A c.1298delC p.M434fs*185 Deletion - Frameshift Endometrium COSM3824403 ACTR8 c.1103G>A p.R368Q Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM913225 BRDT c.369G>T p.E123D Substitution - Missense Endometrium COSM3341113 NSD1 c.3281T>C p.M1094T Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM87142 TET2 c.3957_3957delA p.E1320fs*43 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM290619 TDRD5 c.2885G>A p.R962Q Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5691834 APOBEC1 c.648A>T p.Q216H Substitution - Missense Soft_tissue COSM4745661 SIRT3 c.6G>A p.A2A Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM480382 PBRM1 c.1877G>T p.G626V Substitution - Missense Kidney COSM2210758 ASH1L c.576G>A p.T192T Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4847180 SMARCA5 c.1195G>C p.D399H Substitution - Missense Cervix COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1639819 ARID1A c.4550delC p.Q1519fs*8 Deletion - Frameshift Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM989 SMARCB1 c.1130G>A p.R377H Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM53026 EZH2 c.216_217delTT p.S73fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM53311 IDH2 c.? p.R140W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM739793 PRDM1 c.1772G>A p.G591E Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4961597 ARID1A c.6191T>A p.L2064H Substitution - Missense Pancreas COSM4656493 HDAC6 c.11C>T p.T4I Substitution - Missense Large_intestine COSM4801877 ACTL6A c.775A>G p.I259V Substitution - Missense Liver COSM4098446 CHD6 c.5919T>G p.N1973K Substitution - Missense Stomach COSM5030940 KDM6A c.1666C>A p.P556T Substitution - Missense Central_nervous_system COSM1352564 PRDM10 c.2487C>T p.P829P Substitution - coding silent Bone COSM337259 PRDM11 c.1268A>T p.K423M Substitution - Missense Lung COSM318892 BAZ1B c.1295A>T p.K432I Substitution - Missense Lung COSM144547 DNMT3A c.? p.R882L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3555055 TCF20 c.2444C>T p.P815L Substitution - Missense Skin COSM33732 IDH2 c.515G>T p.R172M Substitution - Missense Central_nervous_system COSM316701 ZMYM3 c.1178A>T p.Q393L Substitution - Missense Lung COSM961533 MGA c.7446G>A p.R2482R Substitution - coding silent Endometrium COSM3396079 BAZ2A_ENST00000379441 c.4579C>T p.R1527W Substitution - Missense Prostate COSM3906590 SMARCA2 c.3894A>G p.E1298E Substitution - coding silent Stomach COSM459433 BAZ2A_ENST00000379441 c.4726C>T p.Q1576* Substitution - Nonsense Cervix COSM1625942 HDAC6 c.1973A>T p.H658L Substitution - Missense Liver COSM4185583 SHPRH c.1363G>T p.G455* Substitution - Nonsense Kidney COSM3640347 BAZ1B c.1551A>T p.E517D Substitution - Missense Skin COSM5714411 AIRE c.1369T>C p.C457R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5921198 NCOR1 c.1904T>C p.V635A Substitution - Missense Skin COSM4693826 JHDM1D c.1168delA p.T390fs*17 Deletion - Frameshift Large_intestine COSM1685945 GABRG1 c.1274G>A p.G425E Substitution - Missense Skin COSM5010505 ARID1A c.3645G>T p.M1215I Substitution - Missense Kidney COSM5762947 SUZ12 c.751C>G p.L251V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5789126 ERCC6 c.2268G>C p.L756F Substitution - Missense Breast COSM484634 PHF14 c.2016T>G p.N672K Substitution - Missense Kidney COSM5925476 KDM4C c.2611-4T>A p.? Unknown Skin COSM4464845 GLYR1 c.1355C>T p.A452V Substitution - Missense Skin COSM5072438 SP110 c.1891C>G p.R631G Substitution - Missense Large_intestine COSM3804817 ARID1A c.1606T>C p.S536P Substitution - Missense Breast COSM451292 RING1 c.1004A>G p.E335G Substitution - Missense Thyroid COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43420 TET2 c.4546C>T p.R1516* Substitution - Nonsense Salivary_gland COSM85911 IKZF1 c.161-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51217 ARID1A c.3391_3391delC p.Q1131fs*30 Deletion - Frameshift Ovary COSM98347 BAZ1B c.3946C>T p.Q1316* Substitution - Nonsense Upper_aerodigestive_tract COSM122796 EHMT1 c.38G>C p.G13A Substitution - Missense Upper_aerodigestive_tract COSM138405 MECOM c.515C>T p.S172L Substitution - Missense Skin COSM221605 TET2 c.4532T>A p.L1511* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM147833 SMEK1 c.837G>A p.S279S Substitution - coding silent Stomach COSM245704 KMT2A c.6222C>T p.C2074C Substitution - coding silent Skin COSM254544 ARID1A c.5221C>T p.Q1741* Substitution - Nonsense Urinary_tract COSM267486 SP110 c.459G>A p.A153A Substitution - coding silent Large_intestine COSM269326 HNF1A c.1611G>A p.T537T Substitution - coding silent Large_intestine COSM263764 SMARCD1 c.331C>A p.L111I Substitution - Missense Large_intestine COSM257801 PRDM2 c.3312A>C p.E1104D Substitution - Missense Large_intestine COSM305444 GABRG1 c.523C>T p.R175* Substitution - Nonsense Central_nervous_system COSM399543 BRPF3 c.136G>T p.D46Y Substitution - Missense Lung COSM452105 MLL5 c.4478G>A p.R1493Q Substitution - Missense Breast COSM468446 KMT2D c.4909C>G p.L1637V Substitution - Missense Kidney COSM475041 PRMT1 c.273C>T p.I91I Substitution - coding silent Kidney COSM483941 DAXX c.1353G>A p.E451E Substitution - coding silent Central_nervous_system COSM480290 BAP1 c.233A>G p.N78S Substitution - Missense Kidney COSM693666 KMT2D c.3341G>T p.G1114V Substitution - Missense Lung COSM675676 LMNA c.887G>A p.R296H Substitution - Missense Lung COSM690029 DPF2 c.837C>G p.D279E Substitution - Missense Lung COSM691760 HNF1A c.1213A>T p.M405L Substitution - Missense Lung COSM1017595 SP140_ENST00000392045 c.467G>T p.R156I Substitution - Missense Endometrium COSM1026085 NCOA6 c.2983G>A p.A995T Substitution - Missense Endometrium COSM1028978 DIDO1 c.3881C>A p.A1294E Substitution - Missense Endometrium COSM939507 ARID2 c.3352C>T p.Q1118* Substitution - Nonsense Skin COSM751071 CHD7 c.2133G>A p.K711K Substitution - coding silent Lung COSM720296 SP110 c.336G>A p.W112* Substitution - Nonsense Lung COSM734373 GABRG1 c.714T>C p.F238F Substitution - coding silent Lung COSM909893 KDM4A c.83G>A p.S28N Substitution - Missense Endometrium COSM896944 ASH1L c.1125A>T p.K375N Substitution - Missense Endometrium COSM999625 KDM4B c.709G>A p.A237T Substitution - Missense Endometrium COSM1067711 NIPBL c.6669G>T p.K2223N Substitution - Missense Endometrium COSM970576 CREBBP c.4034T>G p.F1345C Substitution - Missense Endometrium COSM970596 CREBBP c.2294C>A p.S765Y Substitution - Missense Endometrium COSM1061347 KDM3B c.3073C>T p.R1025C Substitution - Missense Endometrium COSM1109597 KDM4C c.2137A>C p.S713R Substitution - Missense Endometrium COSM1246223 BRD8 c.206C>T p.S69L Substitution - Missense Oesophagus COSM1262070 PHF7 c.730C>T p.R244C Substitution - Missense Oesophagus COSM1217940 NSD1 c.4707G>T p.E1569D Substitution - Missense Large_intestine COSM1187999 HELLS c.1717C>T p.H573Y Substitution - Missense Lung COSM1604171 KMT2A c.9182A>G p.N3061S Substitution - Missense Thyroid COSM1605657 HNF1A c.326+3A>G p.? Unknown Liver COSM1605514 PRDM4 c.1035A>G p.V345V Substitution - coding silent Liver COSM1304297 DOT1L c.1776C>A p.L592L Substitution - coding silent Urinary_tract COSM1296292 HDAC1 c.1090C>T p.Q364* Substitution - Nonsense Urinary_tract COSM1324454 CREBBP c.4280+1G>T p.? Unknown Ovary COSM1409848 KDM3A c.3747T>C p.H1249H Substitution - coding silent Large_intestine COSM1437262 NIPBL c.1801delA p.K603fs*11 Deletion - Frameshift Large_intestine COSM1363350 MBD6 c.2338delG p.G782fs*13 Deletion - Frameshift Stomach COSM1363776 CHD4 c.417G>T p.E139D Substitution - Missense Soft_tissue COSM1566057 PRDM15 c.4225G>A p.V1409M Substitution - Missense Urinary_tract COSM1607485 CHD8 c.3882+7C>T p.? Unknown Liver COSM1491616 TRIM33 c.1635T>A p.T545T Substitution - coding silent Kidney COSM1474325 PCGF6 c.967C>G p.R323G Substitution - Missense Breast COSM1478830 MYST1 c.670C>G p.R224G Substitution - Missense Breast COSM1470645 MBD6 c.3G>T p.M1I Substitution - Missense Prostate COSM1624025 MYST3 c.2601C>T p.R867R Substitution - coding silent Liver COSM1620092 NSD1 c.3920A>C p.K1307T Substitution - Missense Liver COSM1580935 GABRG1 c.1042T>G p.L348V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1630641 L3MBTL4 c.248G>T p.G83V Substitution - Missense Liver COSM1682365 HDAC10 c.833C>T p.T278M Substitution - Missense Large_intestine COSM1682745 BRWD3 c.2095C>T p.R699* Substitution - Nonsense Large_intestine COSM1659583 SETD2 c.5356G>T p.A1786S Substitution - Missense Kidney COSM1716712 ATRX c.5240C>A p.T1747K Substitution - Missense Central_nervous_system COSM1713785 DIDO1 c.2914C>T p.P972S Substitution - Missense Skin COSM1714419 EP300 c.1551T>A p.N517K Substitution - Missense Skin COSM1664116 SETD2 c.1376C>G p.A459G Substitution - Missense Kidney COSM1715981 ZBTB38 c.803C>T p.T268I Substitution - Missense Small_intestine COSM1749516 JMJD5 c.903G>A p.E301E Substitution - coding silent Urinary_tract COSM2006617 KMT2D c.14831G>A p.R4944H Substitution - Missense Biliary_tract COSM2151720 SMYD3 c.699A>C p.K233N Substitution - Missense Central_nervous_system COSM2894235 ATF2 c.321G>A p.M107I Substitution - Missense Large_intestine COSM3013881 PRDM9 c.2524C>T p.R842C Substitution - Missense Upper_aerodigestive_tract COSM3061810 TCF20 c.928C>A p.Q310K Substitution - Missense Stomach COSM3089657 EHMT1 c.1617G>A p.P539P Substitution - coding silent Large_intestine COSM3160265 PHF3 c.1907C>T p.A636V Substitution - Missense Large_intestine COSM3296120 MBD5 c.1171A>G p.M391V Substitution - Missense Upper_aerodigestive_tract COSM3379574 MECP2 c.140A>G p.Q47R Substitution - Missense Pancreas COSM3398769 KMT2D c.14400T>A p.Y4800* Substitution - Nonsense Central_nervous_system COSM3508901 SRCAP c.3314C>T p.S1105F Substitution - Missense Skin COSM3509074 MYST1 c.1039G>A p.G347S Substitution - Missense Skin COSM3414704 TDRD1 c.3140C>T p.A1047V Substitution - Missense Large_intestine COSM3440149 SFMBT2 c.1216C>T p.R406* Substitution - Nonsense Skin COSM3431350 EZH2 c.18G>A p.K6K Substitution - coding silent Large_intestine COSM3429313 NSD1 c.5122A>T p.S1708C Substitution - Missense Large_intestine COSM3464395 CHD4 c.1984C>T p.Q662* Substitution - Nonsense Skin COSM3642745 TRRAP c.1152C>T p.H384H Substitution - coding silent Skin COSM3567435 MBD5 c.1125C>T p.I375I Substitution - coding silent Skin COSM3555538 BRD1 c.2110C>T p.L704L Substitution - coding silent Skin COSM3540828 TRIM28 c.1760C>T p.A587V Substitution - Missense Skin COSM3531884 LMNB2 c.1163C>T p.P388L Substitution - Missense Skin COSM3525853 SETBP1 c.1687C>T p.P563S Substitution - Missense Skin COSM3696121 SETD2 c.1493C>G p.S498C Substitution - Missense Large_intestine COSM3665504 TDRD1 c.3249T>C p.N1083N Substitution - coding silent Liver COSM3703791 HNF1A c.775G>T p.V259F Substitution - Missense Liver COSM3732910 CHD3 c.5183G>A p.R1728Q Substitution - Missense Stomach COSM3719516 TET2 c.3730_3731delCT p.Y1245fs*22 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3736950 BAP1 c.1392_1392delC p.I465fs*106 Deletion - Frameshift Skin COSM3755305 RAI1 c.837G>A p.Q279Q Substitution - coding silent Large_intestine COSM3799548 CHD6 c.4384G>A p.V1462M Substitution - Missense Urinary_tract COSM3801779 SETDB1 c.3336T>G p.S1112R Substitution - Missense Breast COSM3818090 CHD9 c.7447G>C p.D2483H Substitution - Missense Breast COSM3809246 PRDM11 c.1055T>G p.V352G Substitution - Missense Breast COSM3804390 KDM1A c.1995A>C p.P665P Substitution - coding silent Breast COSM3788784 ASH1L c.7870G>C p.D2624H Substitution - Missense Urinary_tract COSM3862839 GATAD2B c.206G>T p.G69V Substitution - Missense Skin COSM3857696 HDAC2 c.1043C>A p.P348H Substitution - Missense Stomach COSM3859986 ARID1B c.4408C>G p.P1470A Substitution - Missense Stomach COSM3936744 MGA c.5141G>T p.G1714V Substitution - Missense Oesophagus COSM3880299 STK31 c.2875A>C p.S959R Substitution - Missense Stomach COSM3950207 KMT2C c.4963C>A p.L1655I Substitution - Missense Lung COSM3972070 SP100 c.1725A>G p.R575R Substitution - coding silent Central_nervous_system COSM4046321 MPHOSPH8 c.2421A>G p.V807V Substitution - coding silent Stomach COSM4065904 PCGF2 c.341G>A p.R114H Substitution - Missense Stomach COSM4129608 NCOR1 c.571G>A p.E191K Substitution - Missense Upper_aerodigestive_tract COSM4139481 KDM4C c.2606A>G p.N869S Substitution - Missense Lung COSM4149056 PHF16 c.1137C>A p.H379Q Substitution - Missense Ovary COSM4147292 SMARCC2 c.3577A>C p.T1193P Substitution - Missense Thyroid COSM4147405 CHD4 c.1548C>T p.P516P Substitution - coding silent Thyroid COSM4151363 SETD6 c.368G>A p.W123* Substitution - Nonsense Kidney COSM4164268 STK31 c.968G>A p.S323N Substitution - Missense Ovary COSM4170165 TET2 c.5357_5364delAGAATGAC p.E1786fs*7 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4288486 TRIM28 c.2433G>C p.E811D Substitution - Missense Upper_aerodigestive_tract COSM4352288 JARID2 c.3149G>A p.R1050H Substitution - Missense Large_intestine COSM4384364 KMT2C c.470C>T p.P157L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4603241 KDM6B c.761_762insACCACC p.P264_L265insPP Insertion - In frame Upper_aerodigestive_tract COSM4602848 BPTF c.8028_8029insCCTCCAGCC p.P2684_P2685insAPP Insertion - In frame Upper_aerodigestive_tract COSM4511739 SRCAP c.8798C>T p.P2933L Substitution - Missense Skin COSM4567453 ATF2 c.71_72CC>TT p.P24L Substitution - Missense Skin COSM4489369 BAZ1B c.3469C>T p.R1157W Substitution - Missense Prostate COSM4434667 MECOM c.266+1G>C p.? Unknown Oesophagus COSM4504620 BPTF c.6326C>T p.P2109L Substitution - Missense Skin COSM4591270 KMT2C c.2512G>A p.G838S Substitution - Missense Upper_aerodigestive_tract COSM4454817 PHF20L1 c.508A>T p.N170Y Substitution - Missense Skin COSM4465659 TDRD6 c.1394C>T p.P465L Substitution - Missense Skin COSM4472645 ARID1A c.1798C>T p.P600S Substitution - Missense Skin COSM4700973 MBD4 c.1721A>G p.H574R Substitution - Missense Large_intestine COSM4672035 CHD4 c.630G>A p.R210R Substitution - coding silent Large_intestine COSM4697158 L3MBTL2 c.751G>C p.E251Q Substitution - Missense Large_intestine COSM4689664 HDAC10 c.291G>A p.P97P Substitution - coding silent Large_intestine COSM4740588 VPS72 c.964G>A p.A322T Substitution - Missense Large_intestine COSM4693866 JMJD6 c.327A>G p.S109S Substitution - coding silent Large_intestine COSM4649598 RERE c.696C>T p.Y232Y Substitution - coding silent Large_intestine COSM4635568 ATAD2 c.2932C>T p.L978L Substitution - coding silent Large_intestine COSM4749592 RERE c.2288C>T p.T763M Substitution - Missense Stomach COSM4752732 ZMYM4 c.838C>G p.Q280E Substitution - Missense Stomach COSM4914770 MGA c.5005G>A p.D1669N Substitution - Missense Liver COSM4949758 TAF1L c.2059C>A p.P687T Substitution - Missense Liver COSM4955545 ACTL6B c.782C>A p.A261D Substitution - Missense Liver COSM4958018 RERE c.1075G>C p.D359H Substitution - Missense Liver COSM4950372 EP400 c.9143G>T p.G3048V Substitution - Missense Liver COSM4946986 CHD4 c.2989C>T p.L997F Substitution - Missense Ovary COSM4969671 SETMAR c.1314C>T p.V438V Substitution - coding silent Central_nervous_system COSM4981211 PRDM9 c.1527A>G p.T509T Substitution - coding silent Oesophagus COSM5080273 SMARCD3 c.1161C>G p.N387K Substitution - Missense Large_intestine COSM5056036 SETBP1 c.1255delA p.R421fs*23 Deletion - Frameshift Large_intestine COSM5168831 KDM4B c.365A>G p.Y122C Substitution - Missense Large_intestine COSM5353604 PRDM16 c.3061A>G p.T1021A Substitution - Missense Large_intestine COSM5514323 AKAP1 c.632G>T p.G211V Substitution - Missense Biliary_tract COSM5484374 ASXL1 c.3107A>T p.N1036I Substitution - Missense Large_intestine COSM5646006 MYST2 c.35C>T p.S12L Substitution - Missense Oesophagus COSM5725897 KIAA2026_ENST00000399933 c.268C>T p.L90L Substitution - coding silent Skin COSM5735377 ZMYM1 c.3167A>G p.Q1056R Substitution - Missense Small_intestine COSM5716146 TDRD10 c.24C>T p.P8P Substitution - coding silent Skin COSM5748960 ZMYM3 c.2206C>T p.R736C Substitution - Missense Pancreas COSM5576738 KDM6B c.1342C>T p.P448S Substitution - Missense Skin COSM5610608 SMARCA2 c.3005C>G p.A1002G Substitution - Missense Skin COSM5663622 PHRF1 c.2630G>C p.C877S Substitution - Missense Soft_tissue COSM5704922 POGZ c.4207G>A p.A1403T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5822810 PRDM9 c.1177T>A p.C393S Substitution - Missense Liver COSM5944909 DNMT3A c.2387G>T p.G796V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5901023 DMAP1 c.661G>A p.G221R Substitution - Missense Skin COSM5998284 PHF2 c.874G>A p.E292K Substitution - Missense Prostate COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM3738504 TET2 c.? p.Y1569* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96447 CREBBP c.? p.G2229S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4169543 TET2 c.? p.S1586* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM132984 ASXL1 c.? p.E602* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM231572 DNMT3A c.2407_2476del70 p.R803fs*5 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1007229 MBD5 c.2273C>T p.A758V Substitution - Missense Endometrium COSM1444987 CDYL c.1179C>T p.S393S Substitution - coding silent Large_intestine COSM21481 HNF1A c.872_873insC p.G292fs*25 Insertion - Frameshift Liver COSM5966961 SHPRH c.3922A>G p.I1308V Substitution - Missense Pituitary COSM5043659 SUV420H2 c.338G>A p.R113H Substitution - Missense Liver COSM237739 KMT2C c.10968C>G p.A3656A Substitution - coding silent Prostate COSM1045700 DHX30 c.3380G>A p.R1127Q Substitution - Missense Endometrium COSM3948007 L3MBTL3 c.2324A>C p.N775T Substitution - Missense Lung COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Central_nervous_system COSM122852 EP400 c.169C>G p.Q57E Substitution - Missense Upper_aerodigestive_tract COSM4528675 RTF1 c.1180G>A p.E394K Substitution - Missense Skin COSM43516 TET2 c.4853_4854insTA p.P1619fs*5 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3205530 TBL1XR1 c.1169A>G p.H390R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4752318 TAF1L c.4381C>T p.R1461W Substitution - Missense Stomach COSM309390 ATRX c.7057A>G p.I2353V Substitution - Missense Soft_tissue COSM335620 DNMT3A c.2683G>A p.V895M Substitution - Missense Lung COSM4433126 ARID1B c.1436C>G p.S479C Substitution - Missense Oesophagus COSM2854004 PBRM1 c.3901C>T p.P1301S Substitution - Missense Large_intestine COSM5936577 ADNP c.1516C>A p.H506N Substitution - Missense Skin COSM1583062 DNMT3A c.1430_1433delAGCG p.E477fs*173 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1026872 CHD6 c.3219C>T p.S1073S Substitution - coding silent Endometrium COSM3716168 SMARCA2 c.1989T>G p.D663E Substitution - Missense Upper_aerodigestive_tract COSM400834 POGZ c.2093G>T p.R698L Substitution - Missense Lung COSM1122969 KDM5C c.999G>A p.G333G Substitution - coding silent Endometrium COSM4490670 PHF3 c.3674C>T p.A1225V Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM51421 ARID1A c.5953T>C p.S1985P Substitution - Missense Endometrium COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3753293 KMT2D c.12879C>T p.P4293P Substitution - coding silent Large_intestine COSM3545797 PHF20 c.368G>A p.G123E Substitution - Missense Skin COSM1017614 SP140_ENST00000392045 c.2325G>T p.E775D Substitution - Missense Endometrium COSM1720116 PRDM11 c.869A>C p.K290T Substitution - Missense Skin COSM4171998 EP300 c.? p.C369F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM478231 NCOA5 c.650G>T p.G217V Substitution - Missense Kidney COSM213616 CAMKMT c.791G>C p.R264P Substitution - Missense Breast COSM234400 APOBEC1 c.582G>A p.K194K Substitution - coding silent Skin COSM4912349 TTF2 c.3414A>G p.K1138K Substitution - coding silent Liver COSM133715 DNMT3A c.2120_2120delG p.G707fs*72 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5383362 TP53BP1 c.568G>A p.V190M Substitution - Missense Skin COSM969950 SRCAP c.8242C>T p.R2748* Substitution - Nonsense Endometrium COSM5449679 HDAC4 c.2946C>T p.C982C Substitution - coding silent Large_intestine COSM5624231 ARID2 c.1719G>A p.T573T Substitution - coding silent Oesophagus COSM3294780 EYA2 c.813C>T p.F271F Substitution - coding silent Skin COSM4954063 ATF7IP c.3168T>C p.A1056A Substitution - coding silent Liver COSM74377 DIDO1 c.1979G>A p.S660N Substitution - Missense Ovary COSM4888262 TRRAP c.10138C>A p.Q3380K Substitution - Missense Upper_aerodigestive_tract COSM1469591 BRWD3 c.3238A>T p.S1080C Substitution - Missense Large_intestine COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41292 IDH1 c.? p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM315768 TAF1 c.12C>A p.G4G Substitution - coding silent Lung COSM1220347 PHF15 c.710C>A p.P237H Substitution - Missense Large_intestine COSM5983947 EYA4 c.591G>A p.V197V Substitution - coding silent Upper_aerodigestive_tract COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5580269 ARID1B c.6353C>T p.S2118L Substitution - Missense Skin COSM85916 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM356781 MTA1 c.1315G>C p.E439Q Substitution - Missense Lung COSM3636503 KMT2C c.6284G>A p.S2095N Substitution - Missense Skin COSM4603590 KMT2C c.2448_2449insA p.I817fs*11 Insertion - Frameshift Upper_aerodigestive_tract COSM1088193 HDAC9 c.2493G>A p.Q831Q Substitution - coding silent Endometrium COSM4788457 TDRD5 c.2063T>C p.I688T Substitution - Missense Liver COSM1168906 ATF2 c.373G>A p.E125K Substitution - Missense Pancreas COSM5753945 KMT2D c.14348A>G p.D4783G Substitution - Missense Large_intestine COSM369425 PRMT7 c.464C>T p.A155V Substitution - Missense Stomach COSM3294352 NCOA5 c.95G>A p.R32Q Substitution - Missense Pancreas COSM1215190 KMT2D c.15605A>G p.Y5202C Substitution - Missense Large_intestine COSM4102321 PRMT2 c.478C>T p.R160W Substitution - Missense Stomach COSM1661274 CREBBP c.1645T>G p.S549A Substitution - Missense Kidney COSM3637552 STK31 c.2163C>T p.L721L Substitution - coding silent Skin COSM359126 BPTF c.3687G>T p.L1229F Substitution - Missense Lung COSM1720270 RING1 c.877G>A p.D293N Substitution - Missense Skin COSM87001 DNMT3A c.2644C>A p.R882S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5517712 KDM4B c.2934C>T p.S978S Substitution - coding silent Biliary_tract COSM3879587 KMT2C c.4320A>G p.T1440T Substitution - coding silent Stomach COSM5963931 RAD54L c.1828G>C p.D610H Substitution - Missense Breast COSM5953329 SMYD4 c.371C>T p.T124M Substitution - Missense Oesophagus COSM1169013 PRMT10 c.2083T>G p.Y695D Substitution - Missense Pancreas COSM3694719 ATRX c.737G>A p.R246H Substitution - Missense Stomach COSM4232590 LBR c.902C>T p.A301V Substitution - Missense Prostate COSM3736157 SMYD4 c.706G>A p.G236S Substitution - Missense Skin COSM1413024 DIDO1 c.1991C>T p.S664L Substitution - Missense Large_intestine COSM4170397 KMT2D c.13380G>A p.W4460* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1303430 KDM6B c.1410A>C p.P470P Substitution - coding silent Urinary_tract COSM5359456 KIAA1045 c.778C>T p.R260* Substitution - Nonsense Large_intestine COSM3728764 LMNB1 c.1204C>T p.R402* Substitution - Nonsense Stomach COSM4969421 CTCF c.1952G>A p.R651Q Substitution - Missense Central_nervous_system COSM4547175 KMT2C c.416G>T p.C139F Substitution - Missense Skin COSM993705 DOT1L c.177T>G p.V59V Substitution - coding silent Endometrium COSM4847540 SETBP1 c.2799C>G p.L933L Substitution - coding silent Cervix COSM3700312 BAZ2A_ENST00000379441 c.3760C>T p.P1254S Substitution - Missense Liver COSM2006631 KMT2D c.14735_14736insG p.L4913fs*16 Insertion - Frameshift Large_intestine COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1301955 CREBBP c.5895G>A p.E1965E Substitution - coding silent Urinary_tract COSM1431298 PRDM8 c.1980G>C p.R660R Substitution - coding silent Large_intestine COSM373827 ASXL1 c.4144G>T p.A1382S Substitution - Missense Lung COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM139722 ACTL6B c.233G>A p.G78E Substitution - Missense Skin COSM4799543 FMR1 c.1256A>G p.Y419C Substitution - Missense Liver COSM2156980 PRMT10 c.869G>T p.C290F Substitution - Missense Central_nervous_system COSM723883 PHF20 c.3024C>T p.L1008L Substitution - coding silent Lung COSM3700184 TDG c.460G>T p.G154* Substitution - Nonsense Liver COSM4131185 SMARCA4 c.1524T>C p.H508H Substitution - coding silent Soft_tissue COSM4168679 KMT2D c.14812G>A p.V4938M Substitution - Missense Peritoneum COSM4054475 INOC1 c.1207C>T p.R403* Substitution - Nonsense Stomach COSM1454653 ATAD2 c.1186G>T p.E396* Substitution - Nonsense Large_intestine COSM137535 SFMBT2 c.1112C>T p.P371L Substitution - Missense Skin COSM4920089 CREBBP c.6428A>G p.N2143S Substitution - Missense Liver COSM1560138 PRMT6 c.21C>T p.R7R Substitution - coding silent Large_intestine COSM4072248 SETBP1 c.3296C>A p.S1099Y Substitution - Missense Stomach COSM5986326 HDAC2 c.1061A>T p.Q354L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM469924 BAZ1A c.1248G>T p.V416V Substitution - coding silent Kidney COSM5675975 KMT2D c.4570delG p.V1524fs*8 Deletion - Frameshift Soft_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4572528 BRD7 c.774T>G p.D258E Substitution - Missense Skin COSM5647974 KDM6A c.2352G>A p.L784L Substitution - coding silent Oesophagus COSM5813302 TAF1 c.431A>G p.Y144C Substitution - Missense Liver COSM1685364 SETBP1 c.2612T>C p.I871T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4681105 EP400 c.1638C>T p.N546N Substitution - coding silent Large_intestine COSM1751449 ACTR5 c.1597G>A p.A533T Substitution - Missense Urinary_tract COSM5568099 KMT2A c.9950C>G p.S3317* Substitution - Nonsense Prostate COSM246765 PRDM4 c.2235C>T p.L745L Substitution - coding silent Prostate COSM280553 DNMT3B c.1941C>T p.G647G Substitution - coding silent Large_intestine COSM908606 ZMYM6 c.3796G>T p.E1266* Substitution - Nonsense Endometrium COSM1191153 SMARCA4 c.2989delA p.K997fs*22 Deletion - Frameshift Lung COSM4756269 DIDO1 c.6490G>A p.D2164N Substitution - Missense Stomach COSM5549996 KMT2D c.13774G>A p.A4592T Substitution - Missense Prostate COSM4669562 CBX2 c.1386G>A p.E462E Substitution - coding silent Large_intestine COSM600550 STK31 c.2324C>T p.A775V Substitution - Missense Liver COSM334751 PHF14 c.2415_2416GG>TT p.K805>? Complex Lung COSM5944895 DNMT3A c.2479-2A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4754807 KMT2D c.11656C>A p.Q3886K Substitution - Missense Stomach COSM43500 TET2 c.2604_2605insT p.P869fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5612099 CREBBP c.913A>C p.N305H Substitution - Missense Adrenal_gland COSM5611048 TRRAP c.8119C>T p.P2707S Substitution - Missense Skin COSM1121598 KDM6A c.3022_3050del29 p.A1008fs*7 Deletion - Frameshift Endometrium COSM3624840 EHMT2 c.1645C>T p.P549S Substitution - Missense Skin COSM473839 SETBP1 c.3540C>A p.G1180G Substitution - coding silent Prostate COSM4809244 KMT2C c.7147C>T p.Q2383* Substitution - Nonsense Pancreas COSM341813 GATAD2B c.562C>G p.Q188E Substitution - Missense Lung COSM4840690 HDAC8 c.170T>G p.V57G Substitution - Missense Cervix COSM1496999 SMARCA2 c.356-2A>T p.? Unknown Kidney COSM4147402 CHD4 c.4018C>A p.R1340S Substitution - Missense Thyroid COSM1122200 HDAC6 c.2483G>A p.R828H Substitution - Missense Endometrium COSM4992924 KMT2C c.8585T>A p.L2862Q Substitution - Missense Skin COSM3901335 NCOA2 c.4070C>T p.A1357V Substitution - Missense Stomach COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1583076 DNMT3A c.1609T>G p.C537G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5602219 RSF1 c.2246C>T p.P749L Substitution - Missense Skin COSM4695841 KIAA2026_ENST00000399933 c.5696T>C p.V1899A Substitution - Missense Large_intestine COSM433506 UBR7 c.999T>C p.D333D Substitution - coding silent Breast COSM3810194 KDM2A c.828C>T p.F276F Substitution - coding silent Breast COSM5618282 SMC1A c.1045G>C p.E349Q Substitution - Missense Breast COSM1704055 GLYATL1 c.616G>A p.D206N Substitution - Missense Skin COSM4881587 NIPBL c.529C>G p.P177A Substitution - Missense Upper_aerodigestive_tract COSM896950 ASH1L c.349A>G p.K117E Substitution - Missense Endometrium COSM5708585 TBL1XR1 c.920A>G p.H307R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1559373 HNF1A c.1545G>A p.T515T Substitution - coding silent Soft_tissue COSM1233565 ZMYND8 c.322G>T p.D108Y Substitution - Missense Large_intestine COSM3508922 SRCAP c.7743C>T p.P2581P Substitution - coding silent Skin COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5009342 EP300 c.3354C>T p.V1118V Substitution - coding silent Large_intestine COSM4910534 AP001011.3_ENST00000320876 c.882T>C p.D294D Substitution - coding silent Liver COSM211728 TET2 c.3965T>A p.L1322Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM966710 CHD2 c.2741G>A p.R914H Substitution - Missense Endometrium COSM1390032 DNMT1 c.807C>T p.G269G Substitution - coding silent Stomach COSM3947402 PRDM9 c.2513G>T p.G838V Substitution - Missense Lung COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1728783 PHC1 c.2282C>T p.S761F Substitution - Missense Liver COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3816006 RTF1 c.143C>T p.S48L Substitution - Missense Breast COSM4603233 DIDO1 c.4878_4879insC p.A1627fs*53 Insertion - Frameshift Upper_aerodigestive_tract COSM2188341 TP53BP1 c.919T>C p.F307L Substitution - Missense Large_intestine COSM42016 TET2 c.4393C>T p.R1465* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1674381 KDM4C c.3107C>T p.A1036V Substitution - Missense Large_intestine COSM3251535 ATAT1 c.507G>A p.K169K Substitution - coding silent Large_intestine COSM1380023 CDYL2 c.323G>A p.R108Q Substitution - Missense Skin COSM5012093 GTF3C4 c.482T>C p.M161T Substitution - Missense Kidney COSM1607502 PRMT5 c.1042C>T p.R348* Substitution - Nonsense Liver COSM4428190 AP001011.3_ENST00000320876 c.461C>T p.S154F Substitution - Missense Oesophagus COSM2739032 NCOR1 c.2357A>G p.D786G Substitution - Missense Large_intestine COSM3401717 MGA c.7707A>G p.K2569K Substitution - coding silent Central_nervous_system COSM5030527 BRD3 c.1907G>C p.C636S Substitution - Missense Bone COSM261477 JHDM1D c.2798G>T p.R933I Substitution - Missense Large_intestine COSM41852 TET2 c.4109G>A p.G1370E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM162771 MYST3 c.5920G>A p.G1974R Substitution - Missense Breast COSM4804842 KDM3B c.3864C>T p.T1288T Substitution - coding silent Liver COSM1100870 CHD7 c.7145C>T p.T2382M Substitution - Missense Endometrium COSM5949672 KMT2D c.10880T>A p.L3627* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4043884 MBD6 c.838G>A p.A280T Substitution - Missense Stomach COSM43439 TET2 c.2224C>T p.Q742* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM5879069 EZH2 c.2231_2232insGGCAT p.I744fs*>10 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1026081 NCOA6 c.3205C>T p.P1069S Substitution - Missense Endometrium COSM5919381 KMT2C c.10705C>T p.P3569S Substitution - Missense Skin COSM3733767 DNMT3B c.2429G>T p.G810V Substitution - Missense Pancreas COSM5891121 SUV420H2 c.283C>T p.R95C Substitution - Missense Skin COSM4776428 ZMYM4 c.4235G>C p.R1412T Substitution - Missense Soft_tissue COSM3364098 ZMYM3 c.1472A>C p.K491T Substitution - Missense Kidney COSM1457696 CHD7 c.1947delA p.D652fs*59 Deletion - Frameshift Large_intestine COSM3505551 CHD2 c.4733C>T p.P1578L Substitution - Missense Skin COSM1600086 PBRM1 c.4576+2T>A p.? Unknown Pancreas COSM5371775 KMT2A c.5224G>A p.G1742R Substitution - Missense Skin COSM3901350 NCOA2 c.664C>T p.Q222* Substitution - Nonsense Stomach COSM1187530 MYST3 c.3943G>A p.D1315N Substitution - Missense Lung COSM1436263 NSD1 c.2903A>G p.K968R Substitution - Missense Prostate COSM3973030 HDAC10 c.46C>A p.L16M Substitution - Missense Central_nervous_system COSM1303443 CHD3 c.1026C>T p.V342V Substitution - coding silent Urinary_tract COSM5644679 ATAD2B_ENST00000238789 c.977G>A p.R326K Substitution - Missense Oesophagus COSM3409565 PRDM8 c.585C>T p.G195G Substitution - coding silent Stomach COSM4767796 EP300 c.3183T>A p.T1061T Substitution - coding silent Bone COSM4044323 CHD4 c.3787G>A p.D1263N Substitution - Missense Stomach COSM232276 EYA2 c.584C>T p.S195L Substitution - Missense Skin COSM1945470 PRDM4 c.907C>T p.L303F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM254627 CREBBP c.310C>T p.Q104* Substitution - Nonsense Urinary_tract COSM314122 PHF3 c.5823A>G p.Q1941Q Substitution - coding silent Lung COSM1125873 BRWD3 c.1337T>C p.L446P Substitution - Missense Endometrium COSM4955352 KAT6B c.6079A>T p.M2027L Substitution - Missense Liver COSM5732215 SMARCA4 c.3296_3298delTGC p.L1101delL Deletion - In frame Pancreas COSM4694059 MYST3 c.2790C>T p.D930D Substitution - coding silent Large_intestine COSM6012413 PRDM13 c.1494C>T p.Y498Y Substitution - coding silent Skin COSM4849890 PCGF6 c.574C>G p.Q192E Substitution - Missense Cervix COSM5030988 DNMT3A c.1642_1643delAT p.M548fs*29 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4142623 POGZ c.1274C>A p.S425Y Substitution - Missense Thyroid COSM2154574 EPC1 c.1392G>C p.R464S Substitution - Missense Central_nervous_system COSM4054364 BAHD1 c.703C>T p.R235C Substitution - Missense Stomach COSM37029 EZH2 c.1937A>C p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1747800 ASH1L c.6253G>T p.G2085C Substitution - Missense Urinary_tract COSM290390 PHF17 c.1956G>A p.V652V Substitution - coding silent Large_intestine COSM1729052 EP400 c.2762A>T p.E921V Substitution - Missense Liver COSM1333451 PRDM2 c.2535A>G p.E845E Substitution - coding silent Large_intestine COSM221158 KMT2D c.13075_13076insC p.P4361fs*16 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3547357 ZMYND8 c.1624C>T p.R542* Substitution - Nonsense Skin COSM3794733 GTF3C1 c.276G>C p.V92V Substitution - coding silent Urinary_tract COSM88749 CREBBP c.4336C>T p.R1446C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4250928 MGA c.4972A>G p.T1658A Substitution - Missense Large_intestine COSM1165788 MECP2 c.526C>T p.P176S Substitution - Missense Stomach COSM2911399 NCOA1 c.1815C>G p.G605G Substitution - coding silent Large_intestine COSM5033771 CHD6 c.633G>C p.E211D Substitution - Missense Skin COSM5805334 ERCC6 c.653-2A>T p.? Unknown Liver COSM4717464 PRDM13 c.1500C>T p.S500S Substitution - coding silent Large_intestine COSM4767621 ASH1L c.3516G>A p.S1172S Substitution - coding silent Biliary_tract COSM79178 ERCC6 c.1570C>T p.Q524* Substitution - Nonsense Ovary COSM4588878 KDM4C c.3015A>T p.R1005R Substitution - coding silent Bone COSM5990204 HNF1A c.198_199ins10 p.T67fs*32 Insertion - Frameshift Liver COSM5740466 CHD2 c.2470G>A p.A824T Substitution - Missense Small_intestine COSM5002817 PHRF1 c.2084C>T p.A695V Substitution - Missense Pancreas COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2176181 SETD1B c.1612A>G p.T538A Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM457593 HDAC6 c.208G>A p.G70R Substitution - Missense Breast COSM1693783 MECOM c.800C>T p.S267F Substitution - Missense Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM971266 BRD7 c.830_831delAG p.E277fs*18 Deletion - Frameshift Urinary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4891047 TP53BP1 c.5607C>A p.F1869L Substitution - Missense Upper_aerodigestive_tract COSM985411 CBX4 c.792C>T p.I264I Substitution - coding silent Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2834138 BRD7 c.1366C>T p.P456S Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1386348 ZBTB4 c.11delC p.P4fs*4 Deletion - Frameshift Large_intestine COSM289244 TDRKH c.442C>T p.R148C Substitution - Missense Large_intestine COSM4819890 NIPBL c.703C>G p.H235D Substitution - Missense Cervix COSM5607840 ARID1A c.1675C>T p.P559S Substitution - Missense Skin COSM5364993 DOT1L c.242C>T p.A81V Substitution - Missense Large_intestine COSM3744615 TP53BP1 c.1059C>G p.D353E Substitution - Missense Liver COSM5040067 DPF1 c.677C>T p.P226L Substitution - Missense Liver COSM4969900 ZMYM6 c.2216G>T p.G739V Substitution - Missense Central_nervous_system COSM4383754 TET2 c.329A>G p.K110R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3859992 ARID1B c.4858C>T p.R1620C Substitution - Missense Stomach COSM4899591 BPTF c.3066G>A p.M1022I Substitution - Missense Skin COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM3723035 PHF2 c.2955T>C p.S985S Substitution - coding silent Kidney COSM3963763 DIDO1 c.1940C>T p.P647L Substitution - Missense Lung COSM4591989 KAT6B c.4063_4065delGAG p.E1368delE Deletion - In frame Upper_aerodigestive_tract COSM1965088 KAT6B c.1246A>T p.T416S Substitution - Missense Upper_aerodigestive_tract COSM3061817 TCF20 c.390T>C p.Y130Y Substitution - coding silent Central_nervous_system COSM1672579 PHIP c.4136T>C p.M1379T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM300111 RBBP7 c.1019G>A p.R340H Substitution - Missense Large_intestine COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Endometrium COSM1072934 NCOA7 c.1630G>T p.E544* Substitution - Nonsense Endometrium COSM3663865 NCOA2 c.266C>T p.A89V Substitution - Missense Liver COSM5353908 MBD5 c.467delT p.T157fs*4 Deletion - Frameshift Large_intestine COSM5715555 SRCAP c.4123C>T p.L1375F Substitution - Missense Skin COSM87116 TET2 c.3344_3344delC p.P1115fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4998773 RSF1 c.466C>T p.R156* Substitution - Nonsense Pancreas COSM4480067 NIPBL c.2384C>T p.S795L Substitution - Missense Skin COSM5986568 DOT1L c.2296_2297insTC p.A767fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4144791 SIRT1 c.214G>T p.A72S Substitution - Missense Thyroid COSM1408313 MSH6 c.3305_3306insT p.G1105fs*3 Insertion - Frameshift Large_intestine COSM3827991 NIPBL c.1358T>C p.V453A Substitution - Missense Breast COSM14038 DAXX c.915C>T p.P305P Substitution - coding silent Skin COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM73747 ASH2L c.290C>G p.T97S Substitution - Missense Ovary COSM107494 TRRAP c.2165C>T p.S722F Substitution - Missense Skin COSM221074 KMT2D c.4257T>A p.Y1419* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM147634 EP400 c.1284G>A p.E428E Substitution - coding silent Stomach COSM166088 KDM3A c.1351_1358delAATGCACC p.N451fs*8 Deletion - Frameshift Breast COSM211666 TET2 c.1960C>T p.Q654* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM229623 C20orf20 c.586C>T p.P196S Substitution - Missense Skin COSM245911 KAT6B c.2961G>A p.W987* Substitution - Nonsense Prostate COSM261995 MGA c.3724C>T p.R1242* Substitution - Nonsense Large_intestine COSM263606 SETD5_ENST00000402198 c.794T>G p.I265S Substitution - Missense Large_intestine COSM293686 SP140_ENST00000392045 c.2008delA p.K672fs*4 Deletion - Frameshift Large_intestine COSM311725 HDAC6 c.59C>G p.P20R Substitution - Missense Lung COSM441299 BAZ2B c.767C>G p.S256* Substitution - Nonsense Breast COSM451714 PHF3 c.5465A>G p.N1822S Substitution - Missense Breast COSM462390 KIAA2026_ENST00000399933 c.2934G>A p.K978K Substitution - coding silent Cervix COSM985518 CHD3 c.4531C>T p.R1511C Substitution - Missense Endometrium COSM484157 TDRD6 c.5879A>T p.H1960L Substitution - Missense Kidney COSM1054444 WHSC1 c.3324C>T p.H1108H Substitution - coding silent Endometrium COSM937154 EP400 c.2994G>A p.S998S Substitution - coding silent Endometrium COSM1026100 NCOA6 c.1604C>T p.S535L Substitution - Missense Endometrium COSM707540 BPTF c.2753G>T p.R918M Substitution - Missense Lung COSM909898 KDM4A c.1940G>A p.R647Q Substitution - Missense Endometrium COSM931219 SUV420H1 c.402G>T p.Q134H Substitution - Missense Endometrium COSM932775 TRIM66 c.492A>G p.K164K Substitution - coding silent Endometrium COSM961357 INOC1 c.2559C>T p.F853F Substitution - coding silent Endometrium COSM1067068 PRDM9 c.553G>T p.E185* Substitution - Nonsense Endometrium COSM1066224 NSD1 c.2297C>T p.S766L Substitution - Missense Endometrium COSM1118572 RBBP7 c.83C>T p.P28L Substitution - Missense Endometrium COSM1109480 KIAA2026_ENST00000399933 c.1040C>A p.S347Y Substitution - Missense Endometrium COSM1101388 PRDM14 c.1704T>C p.H568H Substitution - coding silent Endometrium COSM1079916 TDRD6 c.5474A>G p.E1825G Substitution - Missense Endometrium COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1168000 ARID2 c.3396T>G p.S1132R Substitution - Missense Skin COSM1254008 HDAC4 c.204G>A p.E68E Substitution - coding silent Oesophagus COSM1161253 SMARCA4 c.2918G>A p.R973Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1188991 TP53BP1 c.3611A>T p.E1204V Substitution - Missense Lung COSM1315699 ATRX c.5071C>G p.Q1691E Substitution - Missense Urinary_tract COSM1372741 INOC1 c.1786C>T p.L596L Substitution - coding silent Large_intestine COSM1421139 FXR1 c.165delA p.E58fs*8 Deletion - Frameshift Large_intestine COSM1447012 MLL5 c.2613delA p.K873fs*8 Deletion - Frameshift Large_intestine COSM1366030 RNF17 c.1012G>A p.D338N Substitution - Missense Skin COSM1475082 KMT2A c.4101G>A p.P1367P Substitution - coding silent Breast COSM1476837 CHD4 c.2630G>A p.R877Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1490057 KIAA2026_ENST00000399933 c.2110C>T p.R704C Substitution - Missense Breast COSM1616073 BRWD1 c.1691A>G p.Y564C Substitution - Missense Liver COSM1581232 KMT2C c.11374C>A p.Q3792K Substitution - Missense Large_intestine COSM1628576 KDM5A c.4395C>A p.D1465E Substitution - Missense Liver COSM1667866 TTF2 c.1987C>T p.R663W Substitution - Missense Ovary COSM1679021 SRCAP c.8210G>A p.R2737Q Substitution - Missense Ovary COSM1709089 SETD1A c.1903C>T p.P635S Substitution - Missense Skin COSM1716409 CTCF c.1118A>T p.H373L Substitution - Missense Endometrium COSM1945487 PRDM4 c.388A>G p.I130V Substitution - Missense Oesophagus COSM1749516 JMJD5 c.903G>A p.E301E Substitution - coding silent Thyroid COSM1756308 TDRD7 c.2059G>A p.E687K Substitution - Missense Urinary_tract COSM2044789 PHC1 c.2425G>A p.A809T Substitution - Missense Large_intestine COSM2157406 PRDM15 c.3689G>A p.C1230Y Substitution - Missense Central_nervous_system COSM2968175 SMC1A c.2114C>T p.A705V Substitution - Missense Large_intestine COSM3092203 SMARCA2 c.4371T>C p.R1457R Substitution - coding silent Large_intestine COSM3372072 PHF6 c.277G>T p.G93C Substitution - Missense Thyroid COSM3384093 HNF1A c.854C>T p.T285M Substitution - Missense Pancreas COSM3656858 TAF1L c.2308C>T p.P770S Substitution - Missense Skin COSM3696683 CLOCK c.1319C>A p.S440* Substitution - Nonsense Large_intestine COSM3700235 EP400 c.3458A>G p.N1153S Substitution - Missense Liver COSM3665420 SETD2 c.4625_4626insT p.G1543fs*13 Insertion - Frameshift Liver COSM3705052 ASH1L c.4380C>G p.L1460L Substitution - coding silent Liver COSM3708054 BRWD1 c.6103A>G p.I2035V Substitution - Missense Liver COSM3708054 BRWD1 c.6103A>G p.I2035V Substitution - Missense Liver COSM3739616 PRMT8 c.1102-1G>A p.? Unknown Liver COSM3754930 CHD9 c.3849G>A p.Q1283Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3762194 PHIP c.3278T>C p.L1093P Substitution - Missense Large_intestine COSM3813959 SETDB2 c.76G>C p.E26Q Substitution - Missense Breast COSM3799550 CHD6 c.1529G>T p.G510V Substitution - Missense Urinary_tract COSM3790060 KDM4A c.2177A>T p.Y726F Substitution - Missense Urinary_tract COSM3839610 MSH6 c.1560T>G p.G520G Substitution - coding silent Breast COSM3843511 SMARCA1 c.1319C>T p.S440F Substitution - Missense Breast COSM3838445 IDH1 c.536C>A p.A179D Substitution - Missense Breast COSM3915326 MECOM c.128C>T p.P43L Substitution - Missense Skin COSM3943838 ARID1A c.959C>T p.P320L Substitution - Missense Ovary COSM4015560 SFMBT2 c.446A>G p.E149G Substitution - Missense Stomach COSM4104442 EP300 c.6720A>G p.G2240G Substitution - coding silent Stomach COSM4074022 SMARCA4 c.851G>T p.W284L Substitution - Missense Upper_aerodigestive_tract COSM4147292 SMARCC2 c.3577A>C p.T1193P Substitution - Missense Prostate COSM4152455 SETD2 c.4873G>T p.E1625* Substitution - Nonsense Kidney COSM4165144 ARID1A c.2754G>T p.M918I Substitution - Missense Kidney COSM4167491 ARID4A c.2635A>G p.N879D Substitution - Missense Adrenal_gland COSM4166141 TET2 c.5447T>A p.L1816* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4385518 PHF6 c.941T>C p.I314T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4387385 CREBBP c.1955A>G p.H652R Substitution - Missense Lung COSM4402392 KDM1B c.755C>T p.S252L Substitution - Missense Skin COSM4602680 HNF1A c.1405C>T p.H469Y Substitution - Missense Upper_aerodigestive_tract COSM4415260 TTF2 c.108G>T p.T36T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4593385 ARID2 c.4663G>T p.A1555S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4425808 ASH1L c.24G>C p.M8I Substitution - Missense Oesophagus COSM4426584 TDRD3 c.331C>T p.R111* Substitution - Nonsense Oesophagus COSM4580602 SMARCA4 c.1557C>T p.N519N Substitution - coding silent Bone COSM4566652 NCOA6 c.4332_4333CC>TT p.P1445S Substitution - Missense Skin COSM4590489 ATAT1 c.794A>C p.H265P Substitution - Missense Upper_aerodigestive_tract COSM4546956 PHIP c.4111G>C p.E1371Q Substitution - Missense Skin COSM4488168 CHD3 c.3107C>T p.P1036L Substitution - Missense Skin COSM4440697 TBL1XR1 c.1255T>A p.S419T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4745684 POGZ c.2650G>A p.A884T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4679696 DUSP1 c.584T>C p.L195P Substitution - Missense Large_intestine COSM4765105 ARID1A c.4550_4551insC p.Q1519fs*13 Insertion - Frameshift Stomach COSM4618516 NIPBL c.2481G>T p.R827S Substitution - Missense Large_intestine COSM4654296 TRRAP c.6626C>A p.P2209Q Substitution - Missense Large_intestine COSM4753409 CHD6 c.401A>T p.K134M Substitution - Missense Stomach COSM4789005 PRMT7 c.747-2A>G p.? Unknown Liver COSM4805149 RBBP5 c.925A>G p.I309V Substitution - Missense Liver COSM4798933 SRCAP c.232C>T p.Q78* Substitution - Nonsense Liver COSM4799026 ZMYM2 c.795T>C p.N265N Substitution - coding silent Liver COSM4893024 ATF7IP c.3284T>C p.V1095A Substitution - Missense Skin COSM4915282 ZCWPW2 c.939A>T p.A313A Substitution - coding silent Liver COSM4928810 KDM2A c.938A>G p.N313S Substitution - Missense Liver COSM4935368 LMNB2 c.1561A>G p.S521G Substitution - Missense Liver COSM4927386 SMARCA4 c.2090A>G p.D697G Substitution - Missense Liver COSM4850664 ZBTB33 c.1634C>T p.T545I Substitution - Missense Cervix COSM4879983 KAT2B c.805C>T p.R269* Substitution - Nonsense Prostate COSM4828824 GTF3C1 c.403C>T p.R135C Substitution - Missense Cervix COSM4966265 KDM6B c.549G>A p.E183E Substitution - coding silent Prostate COSM4961879 GLYR1 c.1275C>T p.F425F Substitution - coding silent Pancreas COSM4991929 SETD2 c.2497G>T p.E833* Substitution - Nonsense Skin COSM4986331 SETD8 c.47C>A p.A16E Substitution - Missense Soft_tissue COSM5012941 CHD2 c.2095C>T p.R699W Substitution - Missense Kidney COSM5009136 MYST3 c.4692G>T p.E1564D Substitution - Missense Large_intestine COSM5078984 ARID4A c.2330delA p.T779fs*26 Deletion - Frameshift Large_intestine COSM5347387 CHD4 c.1625_1627delAGT p.Q542_F543>L Complex - deletion inframe Liver COSM5361958 ATF7IP c.561T>C p.G187G Substitution - coding silent Large_intestine COSM5392063 CHD6 c.6984C>G p.H2328Q Substitution - Missense Skin COSM5373090 MTA2 c.28G>A p.D10N Substitution - Missense Skin COSM5388870 BRD4 c.1932G>A p.L644L Substitution - coding silent Skin COSM5517161 KDM2A c.2933-10T>A p.? Unknown Biliary_tract COSM5462952 ASXL1 c.3509T>C p.L1170S Substitution - Missense Large_intestine COSM5635722 VPS72 c.303C>G p.V101V Substitution - coding silent Oesophagus COSM5771128 KMT2D c.11926C>A p.P3976T Substitution - Missense Breast COSM5730601 SETD2 c.3573_3574delAG p.R1191fs*17 Deletion - Frameshift Breast COSM5749055 PRDM8 c.583G>A p.G195S Substitution - Missense Pancreas COSM5729906 TDG c.751G>T p.E251* Substitution - Nonsense Skin COSM5601790 MBD5 c.3472C>T p.L1158L Substitution - coding silent Skin COSM5689742 CBX2 c.1280A>T p.K427M Substitution - Missense Soft_tissue COSM5749243 CHD8 c.1108A>C p.T370P Substitution - Missense Genital_tract COSM5782366 ZGPAT c.713T>G p.I238S Substitution - Missense Breast COSM5808494 BAG6 c.117A>G p.V39V Substitution - coding silent Liver COSM5944161 ATRX c.6332G>A p.R2111Q Substitution - Missense Bone COSM5927438 TDRD6 c.5341G>A p.E1781K Substitution - Missense Skin COSM5923063 ARID4A c.2401G>A p.D801N Substitution - Missense Skin COSM6003454 DOT1L c.1544T>A p.L515Q Substitution - Missense Prostate COSM5983732 BRD3 c.2176G>C p.E726Q Substitution - Missense Upper_aerodigestive_tract COSM5967272 CHD2 c.? p.? Unknown Salivary_gland COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM42010 TET2 c.2053C>T p.Q685* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43409 TET2 c.? p.?fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM914349 ASXL1 c.? p.S663fs*6 Unknown Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM4544761 TCF20 c.3632G>A p.R1211K Substitution - Missense Skin COSM52990 DNMT3A c.? p.E30A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3789659 KDM1A c.754G>A p.E252K Substitution - Missense Skin COSM5999997 PHF21A c.1673T>A p.I558N Substitution - Missense Prostate COSM1096253 PHF20L1 c.376C>T p.R126C Substitution - Missense Skin COSM3888645 CHD9 c.842T>G p.I281R Substitution - Missense Skin COSM5382732 ALKBH1 c.391C>T p.L131L Substitution - coding silent Skin COSM1105987 PRDM12 c.451G>A p.D151N Substitution - Missense Skin COSM4577188 EYA3 c.362-2A>T p.? Unknown Bone COSM745601 HDAC9 c.1801G>C p.D601H Substitution - Missense Lung COSM84371 KDM6B c.3195G>A p.P1065P Substitution - coding silent Pancreas COSM350273 AIRE c.790G>T p.A264S Substitution - Missense Lung COSM262917 PHF14 c.1261G>T p.D421Y Substitution - Missense Large_intestine COSM3441512 BTAF1 c.4577C>T p.P1526L Substitution - Missense Skin COSM1315859 ASXL1 c.327G>T p.E109D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87011 DNMT3A c.2141C>G p.S714C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3620806 EYA4 c.953G>A p.G318E Substitution - Missense Skin COSM5878502 ARID2 c.1418C>T p.S473F Substitution - Missense Liver COSM3441503 BTAF1 c.2126C>T p.S709F Substitution - Missense Skin COSM41644 TET2 c.1648C>T p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM87011 DNMT3A c.2141C>G p.S714C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3611753 HDAC3 c.532C>T p.Q178* Substitution - Nonsense Skin COSM3672364 RAI1 c.5642C>A p.P1881Q Substitution - Missense Prostate COSM1453415 ZCWPW1 c.1739C>T p.A580V Substitution - Missense Large_intestine COSM28773 KDM6A c.3416delC p.P1139fs*19 Deletion - Frameshift Urinary_tract COSM1628720 SMARCC2 c.231G>C p.P77P Substitution - coding silent Liver COSM3717733 CBX2 c.410G>A p.R137H Substitution - Missense Liver COSM3849506 PHRF1 c.1423G>A p.A475T Substitution - Missense Prostate COSM5592679 PRDM15 c.282C>T p.P94P Substitution - coding silent Skin COSM267293 PYGO2 c.448_449insC p.Q150fs*27 Insertion - Frameshift Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1735832 ATRX c.1079_1082delTTGA p.I360fs*6 Deletion - Frameshift Central_nervous_system COSM4385519 DNMT3A c.2422_2437del16 p.T808fs*12 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5474298 DIDO1 c.243G>A p.A81A Substitution - coding silent Large_intestine COSM73809 BAZ1A c.212A>T p.E71V Substitution - Missense Ovary COSM1613553 BAZ2B c.2658A>G p.L886L Substitution - coding silent Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3460982 ARID2 c.4685C>T p.P1562L Substitution - Missense Skin COSM254973 TDRD1 c.2005G>C p.D669H Substitution - Missense Urinary_tract COSM1179107 KMT2C c.851G>A p.R284Q Substitution - Missense Thyroid COSM149206 DIDO1 c.2436G>A p.E812E Substitution - coding silent Stomach COSM203725 RUVBL1 c.349C>T p.R117C Substitution - Missense Skin COSM903696 SMYD2 c.957G>A p.E319E Substitution - coding silent Endometrium COSM4595028 KMT2C c.2681G>A p.R894Q Substitution - Missense Soft_tissue COSM4656643 CCDC101 c.507G>C p.V169V Substitution - coding silent Large_intestine COSM2199991 SETD3 c.604G>A p.A202T Substitution - Missense Large_intestine COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM2740089 SMYD4 c.156A>T p.L52L Substitution - coding silent Large_intestine COSM3859966 ARID1B c.1807A>G p.R603G Substitution - Missense Stomach COSM5345779 TAF1L c.144G>A p.A48A Substitution - coding silent Large_intestine COSM5768662 TRRAP c.170A>G p.Q57R Substitution - Missense Breast COSM254539 ARID1A c.6381C>G p.I2127M Substitution - Missense Urinary_tract COSM3939383 ZMYND8 c.3194C>T p.S1065L Substitution - Missense Oesophagus COSM5625058 TDRD1 c.841G>A p.V281M Substitution - Missense Oesophagus COSM265892 CTCF c.1507G>T p.A503S Substitution - Missense Large_intestine COSM1659201 CREBBP c.2159-9C>T p.? Unknown Kidney COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM257562 NSD1 c.722G>T p.R241I Substitution - Missense Large_intestine COSM3416348 KDM4D c.1363C>T p.R455C Substitution - Missense Prostate COSM5923464 EYA1 c.478C>G p.Q160E Substitution - Missense Skin COSM217100 SRCAP c.6297+2T>A p.? Unknown Liver COSM4172027 TET2 c.? p.R1440fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM1625263 PHF2 c.2401A>G p.M801V Substitution - Missense Liver COSM1095749 ATAD2 c.2754T>G p.I918M Substitution - Missense Endometrium COSM306075 PHF6 c.374+1G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4877507 BRPF3 c.2689C>T p.R897C Substitution - Missense Prostate COSM3551320 DNMT3L c.977A>G p.N326S Substitution - Missense Skin COSM4831103 SETD8 c.483C>A p.I161I Substitution - coding silent Cervix COSM3396185 BRDT c.1112C>T p.T371M Substitution - Missense Prostate COSM420718 NIPBL c.5254G>A p.D1752N Substitution - Missense Urinary_tract COSM4597864 PRDM9 c.2272C>A p.R758S Substitution - Missense Upper_aerodigestive_tract COSM1626211 UTY c.430C>A p.H144N Substitution - Missense Liver COSM1412259 NCOA3 c.3792A>G p.Q1264Q Substitution - coding silent Kidney COSM4426195 KDM2B c.2785A>G p.K929E Substitution - Missense Oesophagus COSM4384738 KMT2D c.4552G>A p.A1518T Substitution - Missense Cervix COSM110752 TET2 c.847G>T p.E283* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM2866883 TRRAP c.10818C>T p.R3606R Substitution - coding silent Stomach COSM896433 GATAD2B c.1198_1199delAG p.S400fs*3 Deletion - Frameshift Endometrium COSM1665119 ZMYM6 c.325A>C p.T109P Substitution - Missense Kidney COSM4164210 KMT2C c.8252C>T p.S2751L Substitution - Missense Ovary COSM4025616 TDRD5 c.1846G>A p.G616S Substitution - Missense Stomach COSM1713598 EYA2 c.921G>A p.M307I Substitution - Missense Skin COSM2078767 PHC2 c.481G>A p.A161T Substitution - Missense Large_intestine COSM1476252 KDM2B c.2361G>T p.L787L Substitution - coding silent Breast COSM4735438 TP53BP1 c.5029C>T p.R1677W Substitution - Missense Large_intestine COSM1217944 NSD1 c.1025G>A p.C342Y Substitution - Missense Large_intestine COSM693710 KMT2D c.13659C>T p.P4553P Substitution - coding silent Lung COSM4387456 BAP1 c.659+1G>A p.? Unknown Eye COSM5616481 KAT6B c.5871G>T p.R1957R Substitution - coding silent Lung COSM471876 SETD6 c.647C>G p.S216C Substitution - Missense Kidney COSM24596 SMARCB1 c.978C>A p.Y326* Substitution - Nonsense Lung COSM5944116 ASXL1 c.2383_2383delT p.S795fs*23 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM446044 FXR1 c.916G>C p.E306Q Substitution - Missense Breast COSM3993294 ATXN7 c.1861C>T p.H621Y Substitution - Missense Kidney COSM1602446 KDM4A c.3030T>C p.L1010L Substitution - coding silent Liver COSM988386 SETBP1 c.3081C>T p.D1027D Substitution - coding silent Endometrium COSM13856 CHD6 c.6679C>T p.P2227S Substitution - Missense Skin COSM743367 PHF3 c.688G>T p.D230Y Substitution - Missense Lung COSM1093699 TRRAP c.9129C>T p.I3043I Substitution - coding silent Endometrium COSM5706313 RAI1 c.4985C>T p.P1662L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3548798 DIDO1 c.2380C>T p.P794S Substitution - Missense Skin COSM288296 PRMT10 c.422T>G p.F141C Substitution - Missense Large_intestine COSM211745 TET2 c.5183_5187delAGATG p.E1728fs*10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4180105 SFMBT2 c.2185G>A p.D729N Substitution - Missense Skin COSM392474 TRIM28 c.2434delC p.P813fs*3 Deletion - Frameshift Lung COSM1124914 TAF1 c.3944T>G p.L1315R Substitution - Missense Endometrium COSM934519 PRDM4 c.2073G>A p.Q691Q Substitution - coding silent Endometrium COSM941759 BAZ2A_ENST00000379441 c.2637G>A p.L879L Substitution - coding silent Endometrium COSM982728 SMARCD2 c.938G>A p.R313H Substitution - Missense Endometrium COSM735550 KDM3B c.1449G>C p.L483F Substitution - Missense Lung COSM5967313 CREBBP c.1372_1373ins10 p.G458fs*18 Insertion - Frameshift Salivary_gland COSM3642812 TRRAP c.7531G>A p.D2511N Substitution - Missense Skin COSM5686810 SND1 c.1516G>T p.D506Y Substitution - Missense Soft_tissue COSM1724305 SMYD3 c.423-5delT p.? Unknown Stomach COSM128146 HDAC9 c.1551G>T p.A517A Substitution - coding silent Upper_aerodigestive_tract COSM41293 IDH1 c.? p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4753866 PRDM15 c.3590C>T p.T1197M Substitution - Missense Stomach COSM3751640 PWWP2B c.265C>T p.R89C Substitution - Missense Thyroid COSM971427 CHD9 c.4789C>T p.Q1597* Substitution - Nonsense Endometrium COSM1095774 ATAD2 c.467G>A p.R156Q Substitution - Missense Endometrium COSM4097807 NCOA6 c.3093A>G p.Q1031Q Substitution - coding silent Stomach COSM908313 PRDM16 c.488C>T p.A163V Substitution - Missense Endometrium COSM4957719 CHD1 c.16G>A p.D6N Substitution - Missense Liver COSM1701036 TAF1L c.1345_1346GG>AA p.G449N Substitution - Missense Skin COSM1324051 SUZ12 c.1742T>A p.V581E Substitution - Missense Ovary COSM238441 WHSC1 c.3858C>T p.D1286D Substitution - coding silent Prostate COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM917041 BMI1 c.938G>A p.R313Q Substitution - Missense Endometrium COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5988126 KMT2A c.11284G>A p.G3762S Substitution - Missense Salivary_gland COSM5620717 DOT1L c.1039C>T p.R347C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5922018 GATAD2B c.952A>T p.M318L Substitution - Missense Skin COSM3364143 KDM5C c.3454G>A p.E1152K Substitution - Missense Kidney COSM3871161 ATF7IP c.377C>T p.P126L Substitution - Missense Skin COSM989552 L3MBTL4 c.634G>A p.A212T Substitution - Missense Endometrium COSM4685911 FXR1 c.248A>C p.K83T Substitution - Missense Large_intestine COSM2169530 SCMH1 c.287C>T p.T96M Substitution - Missense Breast COSM1083 SMARCB1 c.?_?del? p.?del Deletion - In frame Soft_tissue COSM1237074 MEN1 c.1351-1_1357delGGTGCGGC p.? Unknown Parathyroid COSM3818887 NCOR1 c.5450C>A p.A1817D Substitution - Missense Breast COSM1465246 ZBTB33 c.563_564insTGA p.D194_V195insD Insertion - In frame Upper_aerodigestive_tract COSM4009501 PHF13 c.141+2T>C p.? Unknown Stomach COSM5658239 SETD1A c.1305G>A p.P435P Substitution - coding silent Soft_tissue COSM1716410 CTCF c.1248T>G p.F416L Substitution - Missense Endometrium COSM1172330 CREBBP c.4807G>T p.A1603S Substitution - Missense Oesophagus COSM5606044 SFMBT1 c.863C>T p.S288F Substitution - Missense Skin COSM480450 PBRM1 c.508C>T p.Q170* Substitution - Nonsense Kidney COSM87169 TET2 c.4249G>T p.V1417F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4805868 KDM4B c.2400C>G p.C800W Substitution - Missense Liver COSM979599 EZH1 c.1735C>T p.R579* Substitution - Nonsense Endometrium COSM1713611 NCOA3 c.1655C>T p.P552L Substitution - Missense Skin COSM1581657 SETD2 c.3218T>G p.V1073G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1680633 DNMT1 c.4801C>T p.R1601* Substitution - Nonsense Large_intestine COSM2818092 BRWD1 c.6239C>T p.T2080I Substitution - Missense Large_intestine COSM6005471 CREBBP c.4993G>A p.D1665N Substitution - Missense Breast COSM1017665 SP100 c.2630A>G p.D877G Substitution - Missense Endometrium COSM1625749 RBBP7 c.142T>C p.W48R Substitution - Missense Liver COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5942351 PWWP2B c.260C>T p.P87L Substitution - Missense Skin COSM307649 CTCF c.1518+1G>T p.? Unknown Kidney COSM2140950 CHD2 c.3998G>A p.G1333D Substitution - Missense Large_intestine COSM5781084 LMNB1 c.695C>A p.S232Y Substitution - Missense Breast COSM3563513 ATRX c.2991C>T p.D997D Substitution - coding silent Skin COSM334171 TRIM33 c.2902C>G p.R968G Substitution - Missense Lung COSM3467579 MPHOSPH8 c.40C>T p.P14S Substitution - Missense Skin COSM3578872 SP140_ENST00000392045 c.75C>T p.I25I Substitution - coding silent Skin COSM3712996 UHRF1 c.466G>T p.A156S Substitution - Missense Upper_aerodigestive_tract COSM4636465 SETD7 c.1027G>A p.G343R Substitution - Missense Large_intestine COSM298457 ING4 c.376A>T p.S126C Substitution - Missense Large_intestine COSM940056 KMT2D c.5404C>A p.R1802S Substitution - Missense Endometrium COSM4883902 DHX30 c.2464C>A p.Q822K Substitution - Missense Upper_aerodigestive_tract COSM5721820 KMT2A c.11236C>T p.R3746C Substitution - Missense Skin COSM5365896 ADNP c.1905A>G p.I635M Substitution - Missense Large_intestine COSM1737968 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM2210703 ASH1L c.4055G>C p.R1352T Substitution - Missense Oesophagus COSM4169966 EP300 c.2686C>T p.Q896* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM744292 MLL5 c.186G>T p.A62A Substitution - coding silent Lung COSM395660 CBX4 c.1455G>A p.G485G Substitution - coding silent Lung COSM3675546 KMT2C c.1099C>G p.H367D Substitution - Missense Liver COSM5802016 CHD2 c.4165_4166insA p.Q1392fs*17 Insertion - Frameshift Breast COSM3075988 BRPF3 c.2294C>T p.T765I Substitution - Missense Upper_aerodigestive_tract COSM1749374 IDH2 c.144G>T p.K48N Substitution - Missense Urinary_tract COSM345040 RBBP4 c.55G>A p.E19K Substitution - Missense Lung COSM5756645 PRDM9 c.118T>A p.W40R Substitution - Missense Large_intestine COSM4971766 PHF2 c.461-1G>A p.? Unknown Central_nervous_system COSM3959097 AP001011.3_ENST00000320876 c.4397T>G p.F1466C Substitution - Missense Lung COSM3822534 DOT1L c.2011C>T p.L671L Substitution - coding silent Breast COSM2866646 TRRAP c.5364C>T p.S1788S Substitution - coding silent Large_intestine COSM5754857 GLYR1 c.1142G>A p.R381H Substitution - Missense Large_intestine COSM3372430 EPC2 c.1671T>G p.V557V Substitution - coding silent Thyroid COSM254614 CHD6 c.64C>T p.P22S Substitution - Missense Urinary_tract COSM26919 DNMT1 c.4589C>T p.P1530L Substitution - Missense Skin COSM5880834 CHD9 c.5150C>A p.A1717E Substitution - Missense Soft_tissue COSM5969142 SMYD2 c.1147T>C p.S383P Substitution - Missense Upper_aerodigestive_tract COSM5729596 PHF20 c.472T>G p.S158A Substitution - Missense Skin COSM690810 ACTR6 c.1111G>T p.D371Y Substitution - Missense Lung COSM742192 BRPF3 c.3240G>C p.V1080V Substitution - coding silent Lung COSM692218 EP400 c.8652C>T p.S2884S Substitution - coding silent Lung COSM219779 TET2 c.2641_2642insA p.R881fs*20 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4830734 KMT2C c.11533G>A p.E3845K Substitution - Missense Cervix COSM1560993 PCGF6 c.83_84insGCCTCC p.P28_V29insPP Insertion - In frame Large_intestine COSM5999732 MEN1 c.1619C>G p.P540R Substitution - Missense Prostate COSM317906 PRDM9 c.25G>C p.E9Q Substitution - Missense Lung COSM4187074 PRDM10 c.804_806delTGA p.H268_E269>Q Complex - deletion inframe Kidney COSM931221 SUV420H1 c.194G>A p.R65H Substitution - Missense Endometrium COSM4698228 LMNA c.1752C>T p.R584R Substitution - coding silent Large_intestine COSM1045497 SETD2 c.606G>A p.S202S Substitution - coding silent Endometrium COSM1756013 GTF3C4 c.1362C>T p.F454F Substitution - coding silent Urinary_tract COSM1137076 PBRM1 c.384G>A p.K128K Substitution - coding silent Kidney COSM182704 KDM5D c.3492A>G p.P1164P Substitution - coding silent Large_intestine COSM5736598 DHX30 c.289G>A p.V97M Substitution - Missense Small_intestine COSM5565340 KAT5 c.821G>A p.R274H Substitution - Missense Prostate COSM1741219 TET2 c.3748G>T p.E1250* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5973646 SP110 c.32C>A p.A11D Substitution - Missense Upper_aerodigestive_tract COSM1667388 ZMYM1 c.2599C>T p.R867* Substitution - Nonsense Large_intestine COSM21471 HNF1A c.617G>T p.W206L Substitution - Missense Liver COSM5703161 MTF2 c.862T>C p.S288P Substitution - Missense Autonomic_ganglia COSM377297 TIF1 c.2617-1G>C p.? Unknown Lung COSM757636 TAF1 c.3127C>T p.P1043S Substitution - Missense Lung COSM3636517 KMT2C c.4613T>A p.L1538* Substitution - Nonsense Skin COSM82307 PRDM14 c.1419T>C p.S473S Substitution - coding silent Ovary COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1369939 METTL21D c.374A>C p.K125T Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM22576 MEN1 c.654+3A>G p.? Unknown Parathyroid COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5403158 NSD1 c.5770G>A p.V1924M Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1307399 CHD6 c.7010C>T p.S2337L Substitution - Missense Urinary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM395268 DHX30 c.2877G>C p.E959D Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3969648 CTCF c.1811C>G p.S604C Substitution - Missense Central_nervous_system COSM608519 SMARCA2 c.1249C>T p.R417W Substitution - Missense Large_intestine COSM4544158 AP001011.3_ENST00000320876 c.3508G>A p.E1170K Substitution - Missense Skin COSM3788018 MTA2 c.405C>T p.P135P Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4506395 SETD2 c.5684C>T p.A1895V Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3736439 STK31 c.1863T>G p.N621K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2818222 BRWD1 c.2065C>T p.R689W Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM980864 MYST2 c.1392G>T p.K464N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2965299 KDM6A c.360C>G p.Y120* Substitution - Nonsense Oesophagus COSM4443331 DNMT1 c.686C>T p.T229M Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3726771 ARID1A c.2231C>G p.S744* Substitution - Nonsense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM423053 PBRM1 c.530_534delCTTCT p.P179fs*11 Deletion - Frameshift Kidney COSM1377474 SRCAP c.5625_5626insC p.P1879fs*21 Insertion - Frameshift Large_intestine COSM4976741 JMJD1C c.5314C>T p.L1772L Substitution - coding silent Oesophagus COSM1683280 DNMT3B c.1320_1321insGC p.K441fs*150 Insertion - Frameshift Kidney COSM4702530 MLL5 c.3003G>A p.T1001T Substitution - coding silent Large_intestine COSM33732 IDH2 c.515G>T p.R172M Substitution - Missense Central_nervous_system COSM1676583 PRDM10 c.2417C>T p.A806V Substitution - Missense Large_intestine COSM87007 DNMT3A c.2711C>T p.P904L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4669564 CBX3 c.487A>T p.I163F Substitution - Missense Large_intestine COSM4651568 JARID2 c.3286C>T p.R1096C Substitution - Missense Large_intestine COSM4841242 BAZ2A c.1588A>G p.K530E Substitution - Missense Cervix COSM133458 HDAC4 c.158_159TG>AT p.L53H Substitution - Missense Ovary COSM1130659 ASXL1 c.3213G>A p.A1071A Substitution - coding silent Prostate COSM211536 ZMYND8 c.104G>C p.R35T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM429982 EED c.230A>G p.K77R Substitution - Missense Breast COSM1262075 PHIP c.3363G>A p.E1121E Substitution - coding silent Stomach COSM1408304 MSH6 c.2195G>A p.R732Q Substitution - Missense Large_intestine COSM271656 GTF3C1 c.5588G>A p.R1863H Substitution - Missense Cervix COSM4935859 YY1 c.264G>T p.P88P Substitution - coding silent Liver COSM2105414 KMT2A c.2817T>C p.H939H Substitution - coding silent Large_intestine COSM983297 BPTF c.2102A>C p.K701T Substitution - Missense Endometrium COSM1579571 KDM1A c.2537C>T p.A846V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2909135 HDAC4 c.2063G>A p.R688H Substitution - Missense Large_intestine COSM255185 PHF6 c.267_268insTTAGGACC p.A90fs*10 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2929526 TFPT c.344A>G p.Q115R Substitution - Missense Large_intestine COSM41647 TET2 c.? p.E1234G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2152341 KDM1B c.1292C>A p.A431D Substitution - Missense Central_nervous_system COSM255149 MEN1 c.1635_1635delG p.P546fs*13 Deletion - Frameshift Parathyroid COSM1716564 BAP1 c.778C>T p.Q260* Substitution - Nonsense Pleura COSM3858407 EYA4 c.653G>A p.G218D Substitution - Missense Stomach COSM1685945 GABRG1 c.1274G>A p.G425E Substitution - Missense Skin COSM30579 SMARCA4 c.3557C>T p.A1186V Substitution - Missense Stomach COSM23054 MEN1 c.512G>A p.R171Q Substitution - Missense Prostate COSM1081 SMARCB1 c.584_585insCGATGGG p.I195fs*18 Insertion - Frameshift Central_nervous_system COSM39460 HCFC2 c.716G>A p.G239E Substitution - Missense Central_nervous_system COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM69738 ASXL3 c.208G>A p.G70S Substitution - Missense Ovary COSM88745 CREBBP c.4508A>T p.Y1503F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM112121 PRDM2 c.2104_2105insCTC p.P703_A704insP Insertion - In frame Central_nervous_system COSM112121 PRDM2 c.2104_2105insCTC p.P703_A704insP Insertion - In frame Upper_aerodigestive_tract COSM109318 NCOA1 c.3217C>T p.R1073W Substitution - Missense Skin COSM121538 PHF1 c.1662T>C p.S554S Substitution - coding silent Upper_aerodigestive_tract COSM133737 DNMT3A c.2207G>A p.R736H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM146933 ERCC6 c.3689G>C p.R1230P Substitution - Missense Soft_tissue COSM232460 GTF3C4 c.2123C>T p.P708L Substitution - Missense Skin COSM297219 AICDA c.231C>T p.R77R Substitution - coding silent Large_intestine COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Upper_aerodigestive_tract COSM383822 ATF7IP c.3757G>T p.G1253W Substitution - Missense Lung COSM399954 PBRM1 c.3347C>G p.S1116* Substitution - Nonsense Kidney COSM414449 ASH1L c.190G>A p.D64N Substitution - Missense Urinary_tract COSM460255 BPTF c.6769C>T p.P2257S Substitution - Missense Cervix COSM459230 YY1 c.381C>T p.F127F Substitution - coding silent Cervix COSM455474 PRDM12 c.561G>C p.K187N Substitution - Missense Breast COSM462935 POGZ c.3460G>A p.E1154K Substitution - Missense Kidney COSM981684 AKAP1 c.1602G>A p.P534P Substitution - coding silent Endometrium COSM480356 PBRM1 c.2536G>T p.E846* Substitution - Nonsense Kidney COSM1051628 SMARCA5 c.2677G>A p.E893K Substitution - Missense Endometrium COSM1027509 EYA2 c.1050C>A p.F350L Substitution - Missense Endometrium COSM1030707 BRWD1 c.2616G>A p.A872A Substitution - coding silent Endometrium COSM724364 EYA2 c.1128G>T p.W376C Substitution - Missense Lung COSM740327 JARID2 c.1179C>T p.L393L Substitution - coding silent Lung COSM907695 ARID1A c.2179_2188delCGGCCACCCA p.R727fs*12 Deletion - Frameshift Endometrium COSM905240 ACTA1 c.592C>T p.R198C Substitution - Missense Large_intestine COSM908609 ZMYM6 c.3363A>G p.S1121S Substitution - coding silent Endometrium COSM1034258 CBX7 c.215G>T p.R72I Substitution - Missense Endometrium COSM1108214 TAF1L c.4924G>T p.E1642* Substitution - Nonsense Endometrium COSM1108214 TAF1L c.4924G>T p.E1642* Substitution - Nonsense Skin COSM1079888 TDRD6 c.1936C>A p.L646I Substitution - Missense Endometrium COSM1230116 TP53BP1 c.4198C>T p.R1400* Substitution - Nonsense Large_intestine COSM1209378 HDAC4 c.1867G>T p.G623C Substitution - Missense Large_intestine COSM1201014 CHD8 c.3578A>C p.D1193A Substitution - Missense Large_intestine COSM1184494 BAZ2B c.2290G>T p.G764W Substitution - Missense Large_intestine COSM1169631 PBRM1 c.528+1G>C p.? Unknown Kidney COSM1187472 KMT2C c.8858G>A p.S2953N Substitution - Missense Lung COSM1188897 UBR7 c.13G>T p.E5* Substitution - Nonsense Lung COSM1298873 PRDM4 c.317G>C p.R106T Substitution - Missense Urinary_tract COSM1313465 TRRAP c.5344G>C p.E1782Q Substitution - Missense Urinary_tract COSM1301097 INOC1 c.2698G>C p.E900Q Substitution - Missense Urinary_tract COSM1308534 RUVBL1 c.110C>T p.S37L Substitution - Missense Urinary_tract COSM1318941 DNMT3A c.2342A>G p.D781G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1331438 PHF2 c.3038C>T p.P1013L Substitution - Missense Ovary COSM1388730 SETBP1 c.3740delA p.G1249fs*3 Deletion - Frameshift Large_intestine COSM1417049 HDAC10 c.1464A>G p.A488A Substitution - coding silent Large_intestine COSM1427013 PHF17 c.785C>T p.P262L Substitution - Missense Large_intestine COSM1427017 PHF17 c.1438C>T p.R480W Substitution - Missense Large_intestine COSM1570048 TAF1 c.501G>A p.K167K Substitution - coding silent Large_intestine COSM1493648 JMJD5 c.135G>A p.V45V Substitution - coding silent Kidney COSM1624841 SMARCA2 c.1023A>T p.E341D Substitution - Missense Liver COSM1756765 EP400 c.1836C>T p.P612P Substitution - coding silent Urinary_tract COSM2098813 ING4 c.447G>A p.S149S Substitution - coding silent Large_intestine COSM2688096 NIPBL c.8093C>T p.A2698V Substitution - Missense Large_intestine COSM2810414 ASXL3 c.2825C>A p.S942Y Substitution - Missense Stomach COSM3062880 PHF21B c.750G>A p.P250P Substitution - coding silent Pancreas COSM3113029 SRCAP c.8303G>A p.R2768Q Substitution - Missense Large_intestine COSM3124663 ZBTB38 c.1894C>T p.P632S Substitution - Missense Skin COSM3353860 CDYL c.643G>A p.E215K Substitution - Missense Urinary_tract COSM3360038 MPHOSPH8 c.550C>A p.P184T Substitution - Missense Kidney COSM3395704 EHMT1 c.2052A>T p.P684P Substitution - coding silent Pancreas COSM3488191 PRDM16 c.870C>T p.F290F Substitution - coding silent Skin COSM3488220 PRDM16 c.1542C>T p.F514F Substitution - coding silent Skin COSM3500903 BAHD1 c.2316C>T p.H772H Substitution - coding silent Stomach COSM3423189 SUV420H2 c.1146C>A p.A382A Substitution - coding silent Large_intestine COSM3443959 KMT2A c.4396C>T p.P1466S Substitution - Missense Skin COSM3451011 MTA2 c.1488C>T p.S496S Substitution - coding silent Skin COSM3463522 BAZ2A_ENST00000379441 c.4638C>T p.T1546T Substitution - coding silent Skin COSM3463525 BAZ2A_ENST00000379441 c.4372C>T p.R1458* Substitution - Nonsense Skin COSM3615214 PRDM9 c.1386C>T p.L462L Substitution - coding silent Skin COSM3579812 ATAD2B_ENST00000238789 c.2579C>T p.S860L Substitution - Missense Skin COSM3562463 PHF8 c.261C>T p.F87F Substitution - coding silent Skin COSM3567448 MBD5 c.2059T>C p.L687L Substitution - coding silent Skin COSM3514736 RAI1 c.1111C>T p.P371S Substitution - Missense Skin COSM3519486 MBTD1 c.1029T>C p.R343R Substitution - coding silent Skin COSM3523707 SIRT7 c.613G>A p.V205M Substitution - Missense Skin COSM3663863 NCOA2 c.1746A>G p.S582S Substitution - coding silent Liver COSM3709522 HDAC4 c.2373+2T>C p.? Unknown Liver COSM3754179 UBR7 c.19G>A p.A7T Substitution - Missense Large_intestine COSM3812595 BAZ2A_ENST00000379441 c.4906G>A p.E1636K Substitution - Missense Breast COSM3800225 EP300 c.3667C>G p.Q1223E Substitution - Missense Urinary_tract COSM3791702 MTA2 c.982G>C p.D328H Substitution - Missense Urinary_tract COSM3927846 TIF1 c.1588C>A p.Q530K Substitution - Missense Prostate COSM3840206 SMYD1 c.628C>T p.P210S Substitution - Missense Breast COSM3923410 STK31 c.1662C>T p.I554I Substitution - coding silent Skin COSM4022819 TDRD10 c.904G>A p.D302N Substitution - Missense Stomach COSM4054367 BAHD1 c.1182G>A p.S394S Substitution - coding silent Stomach COSM4101597 BRWD1 c.3607T>A p.Y1203N Substitution - Missense Stomach COSM4121137 TET2 c.2242T>A p.L748I Substitution - Missense Stomach COSM4072251 SETBP1 c.3594G>A p.P1198P Substitution - coding silent Stomach COSM4129609 NCOR1 c.568C>T p.R190* Substitution - Nonsense Upper_aerodigestive_tract COSM4129001 SETD1A c.994G>T p.A332S Substitution - Missense Thyroid COSM4167464 KDM6A c.3638G>T p.R1213L Substitution - Missense Central_nervous_system COSM4209410 SMARCC2 c.3129T>C p.P1043P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4387450 BAP1 c.38-1G>C p.? Unknown Eye COSM4562186 KIAA1045 c.915G>A p.R305R Substitution - coding silent Skin COSM4567102 TCF20 c.569_570CC>TT p.S190F Substitution - Missense Skin COSM4495117 DNMT3B c.410C>T p.P137L Substitution - Missense Skin COSM4514350 TCF20 c.971C>T p.P324L Substitution - Missense Skin COSM4432099 RUVBL1 c.834G>A p.E278E Substitution - coding silent Oesophagus COSM4567857 TCF20 c.8_9CC>TT p.S3F Substitution - Missense Skin COSM4556323 SRCAP c.6882G>A p.E2294E Substitution - coding silent Skin COSM4506827 CHD6 c.7303C>T p.R2435* Substitution - Nonsense Skin COSM4462374 ZMYM2 c.1243C>T p.P415S Substitution - Missense Skin COSM4467070 SFMBT1 c.1469C>T p.S490F Substitution - Missense Skin COSM4470136 TDRD5 c.1642C>T p.H548Y Substitution - Missense Skin COSM4475946 RERE c.2029C>T p.P677S Substitution - Missense Skin COSM4483126 MECOM c.2112C>T p.L704L Substitution - coding silent Skin COSM4411041 ZMYM5 c.530T>C p.M177T Substitution - Missense Kidney COSM4719551 PWWP2B c.709C>T p.R237C Substitution - Missense Large_intestine COSM4717896 PRMT7 c.1891G>A p.E631K Substitution - Missense Large_intestine COSM4666247 BRWD1 c.3723A>G p.E1241E Substitution - coding silent Large_intestine COSM4701400 MECP2 c.1324A>G p.T442A Substitution - Missense Large_intestine COSM4689721 HDAC9 c.761T>C p.V254A Substitution - Missense Large_intestine COSM4708351 NSD1 c.3348A>G p.Q1116Q Substitution - coding silent Large_intestine COSM4626412 EHMT1 c.1643G>A p.R548Q Substitution - Missense Large_intestine COSM4614466 BPTF c.2873_2874insA p.I961fs*6 Insertion - Frameshift Large_intestine COSM4750564 RAI1 c.3265C>T p.R1089* Substitution - Nonsense Stomach COSM4753076 ASH2L c.1447G>C p.G483R Substitution - Missense Stomach COSM4789139 PHF17 c.2196G>C p.Q732H Substitution - Missense Liver COSM4928894 MLL5 c.2701A>G p.T901A Substitution - Missense Liver COSM4941792 GTF3C4 c.511C>A p.P171T Substitution - Missense Liver COSM4935694 KMT2C c.6010A>T p.S2004C Substitution - Missense Liver COSM4840235 EYA3 c.292A>C p.T98P Substitution - Missense Cervix COSM4848575 TTF2 c.3049C>T p.Q1017* Substitution - Nonsense Cervix COSM4994558 TRIM28 c.424G>A p.A142T Substitution - Missense Large_intestine COSM4999475 KDM3A c.1039T>C p.S347P Substitution - Missense Pancreas COSM5020898 SETD2 c.5012A>G p.Q1671R Substitution - Missense Soft_tissue COSM5014659 ARID1B c.5858T>A p.L1953Q Substitution - Missense Kidney COSM5019959 PBRM1 c.1281C>T p.P427P Substitution - coding silent Soft_tissue COSM5086782 METTL21D c.538A>G p.K180E Substitution - Missense Breast COSM5366752 KDM6A c.1646_1653delGAGTGCCT p.R549fs*29 Deletion - Frameshift Large_intestine COSM5411131 KIAA2026_ENST00000399933 c.883C>T p.P295S Substitution - Missense Skin COSM5380686 PHC2 c.2375C>T p.T792I Substitution - Missense Skin COSM5361805 KMT2D c.12493G>A p.A4165T Substitution - Missense Large_intestine COSM5490543 KMT2C c.560C>T p.S187L Substitution - Missense Biliary_tract COSM5516434 CHD7 c.8556C>T p.D2852D Substitution - coding silent Biliary_tract COSM5484794 CHD1 c.225A>T p.Q75H Substitution - Missense Large_intestine COSM5447052 CHD4 c.2514+2T>C p.? Unknown Large_intestine COSM5575711 KMT2C c.13679A>G p.Q4560R Substitution - Missense Stomach COSM5730014 HDAC3 c.741C>T p.Y247Y Substitution - coding silent Skin COSM5749055 PRDM8 c.583G>A p.G195S Substitution - Missense Pancreas COSM5590841 EYA1 c.1722C>T p.I574I Substitution - coding silent Skin COSM5585567 KDM4C c.2923C>T p.Q975* Substitution - Nonsense Skin COSM5606738 KMT2D c.5238C>A p.S1746S Substitution - coding silent Skin COSM5611042 TRRAP c.10283A>C p.K3428T Substitution - Missense Skin COSM5611080 TRRAP c.3597C>T p.S1199S Substitution - coding silent Skin COSM5685827 POGZ c.3609G>A p.E1203E Substitution - coding silent Soft_tissue COSM5662943 ELP3 c.1235A>G p.H412R Substitution - Missense Soft_tissue COSM5665123 DNMT3A c.1234G>T p.G412W Substitution - Missense Soft_tissue COSM5670764 ATRX c.4863G>T p.T1621T Substitution - coding silent Soft_tissue COSM5558180 NCOA7 c.1754A>G p.K585R Substitution - Missense Prostate COSM5556799 TDRD5 c.294T>A p.H98Q Substitution - Missense Prostate COSM5788223 SMARCA2 c.4768G>T p.E1590* Substitution - Nonsense Breast COSM5797849 NIPBL c.4891C>T p.Q1631* Substitution - Nonsense Breast COSM5945409 ASXL1 c.1817G>A p.R606Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5930010 DIDO1 c.6143C>T p.S2048F Substitution - Missense Skin COSM5995438 ING2 c.242G>A p.R81H Substitution - Missense Prostate COSM6009433 TTF2 c.2515A>C p.K839Q Substitution - Missense Skin COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41995 TET2 c.2570_2570delA p.N857fs*16 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM97048 IDH2 c.? p.R140? Unknown Haematopoietic_and_lymphoid_tissue COSM53150 TET2 c.? p.E259* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM681912 RERE c.1194G>A p.E398E Substitution - coding silent Lung COSM5578130 BPTF c.5863A>G p.S1955G Substitution - Missense Skin COSM1293012 KDM6A c.3859A>T p.K1287* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1604980 MEN1 c.655-1G>A p.? Unknown Liver COSM2723163 MSL3 c.1373G>A p.R458Q Substitution - Missense Large_intestine COSM4421632 HDAC4 c.2736A>G p.R912R Substitution - coding silent Pleura COSM4606618 BAZ2A_ENST00000379441 c.3754G>A p.G1252S Substitution - Missense Adrenal_gland COSM5765078 SIRT3 c.561C>T p.H187H Substitution - coding silent Large_intestine COSM36248 IDH1 c.? p.R132? Substitution - Missense Bone COSM1034754 TCF20 c.5372G>A p.R1791H Substitution - Missense Endometrium COSM5487424 EZH2 c.2231_2232insA p.E745fs*>8 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM148891 KDM3A c.1559T>A p.L520H Substitution - Missense Stomach COSM3398767 KMT2D c.15333G>T p.V5111V Substitution - coding silent Central_nervous_system COSM1727504 KDM6A c.334G>A p.A112T Substitution - Missense Liver COSM5944881 DNMT3A c.2642G>A p.S881N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM265253 ARID2 c.854G>A p.R285Q Substitution - Missense Pancreas COSM4842400 ATF7IP c.1249G>C p.D417H Substitution - Missense Cervix COSM5586779 TET2 c.4349T>C p.F1450S Substitution - Missense Skin COSM3132342 WHSC1 c.3312G>A p.A1104A Substitution - coding silent Large_intestine COSM4497842 NCOR1 c.5021C>T p.P1674L Substitution - Missense Skin COSM5738228 KMT2C c.1585C>T p.P529S Substitution - Missense Small_intestine COSM1023496 KDM3A c.1438C>T p.R480* Substitution - Nonsense Large_intestine COSM1719244 KDM4A c.1148G>T p.G383V Substitution - Missense Skin COSM1128636 ATF7IP c.1589A>G p.K530R Substitution - Missense Prostate COSM5506041 TAF1 c.4291C>T p.R1431C Substitution - Missense Biliary_tract COSM4772560 CDYL2 c.254C>T p.S85L Substitution - Missense Stomach COSM5013341 DOT1L c.644A>T p.E215V Substitution - Missense Kidney COSM3454949 ACTR6 c.419C>T p.P140L Substitution - Missense Skin COSM285559 TAF1L c.1097G>A p.R366Q Substitution - Missense Large_intestine COSM230133 KMT2C c.1173C>A p.C391* Substitution - Nonsense Cervix COSM284224 PRDM9 c.1644G>T p.G548G Substitution - coding silent Large_intestine COSM5892004 CHD7 c.2605C>T p.L869F Substitution - Missense Skin COSM1700240 EYA1 c.1408G>A p.E470K Substitution - Missense Skin COSM3715667 PHF14 c.145G>T p.A49S Substitution - Missense Upper_aerodigestive_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Skin COSM4051449 ARID4A c.3481C>G p.P1161A Substitution - Missense Stomach COSM1025801 DNMT3B c.1478C>T p.T493M Substitution - Missense Endometrium COSM340426 IDH2 c.745A>G p.S249G Substitution - Missense Lung COSM39428 KMT2C c.13041G>A p.P4347P Substitution - coding silent Central_nervous_system COSM4023054 ASH1L c.3916C>T p.R1306* Substitution - Nonsense Stomach COSM4398840 BPTF c.6230T>G p.I2077S Substitution - Missense Skin COSM3758108 ATAD2B_ENST00000238789 c.202C>T p.L68L Substitution - coding silent Large_intestine COSM3805029 ZMYM6 c.964C>A p.H322N Substitution - Missense Breast COSM2175424 HNF1A c.5T>C p.V2A Substitution - Missense Large_intestine COSM1124904 TAF1 c.3542G>A p.R1181H Substitution - Missense Stomach COSM3065133 HDAC10 c.934G>A p.E312K Substitution - Missense Skin COSM3663014 EZH2 c.728+7A>G p.? Unknown Liver COSM1979910 PHF21A c.1371C>T p.C457C Substitution - coding silent Stomach COSM85916 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4159839 PRDM9 c.2042C>G p.T681S Substitution - Missense Thyroid COSM3347148 EHMT2 c.2514G>A p.L838L Substitution - coding silent Prostate COSM5941519 KDM4A c.1163+6C>T p.? Unknown Skin COSM1749060 SETD3 c.478C>T p.H160Y Substitution - Missense Urinary_tract COSM4705946 NCOA2 c.817C>T p.R273C Substitution - Missense Large_intestine COSM1190492 HDAC10 c.558C>G p.D186E Substitution - Missense Lung COSM5688754 NCOR1 c.4051A>T p.I1351F Substitution - Missense Soft_tissue COSM1067094 PRDM9 c.2496T>C p.Y832Y Substitution - coding silent Prostate COSM4007092 BRD3 c.1696G>T p.E566* Substitution - Nonsense Urinary_tract COSM1409884 SMYD1 c.1344A>G p.L448L Substitution - coding silent Large_intestine COSM379321 MECOM c.39G>A p.P13P Substitution - coding silent Lung COSM4982201 MGA c.7710G>A p.Q2570Q Substitution - coding silent Oesophagus COSM5077909 MBD6 c.2788delC p.P931fs*15 Deletion - Frameshift Large_intestine COSM3440617 KAT6B c.5576T>A p.V1859D Substitution - Missense Skin COSM4432034 KMT2D c.2425G>T p.E809* Substitution - Nonsense Oesophagus COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5601060 ATAD2B_ENST00000238789 c.3925C>T p.L1309F Substitution - Missense Skin COSM3474696 TDRD10 c.124C>T p.P42S Substitution - Missense Skin COSM4426015 TDRD6 c.433G>A p.E145K Substitution - Missense Oesophagus COSM3992591 BRWD3 c.446C>T p.A149V Substitution - Missense Kidney COSM217038 ARID1A c.6251T>A p.V2084D Substitution - Missense Liver COSM1725989 SMARCA4 c.2942A>T p.K981M Substitution - Missense Liver COSM4915055 ATAD2 c.3850G>A p.D1284N Substitution - Missense Liver COSM4717879 PRMT3 c.1190C>A p.A397E Substitution - Missense Large_intestine COSM2042560 SUV420H1 c.141C>T p.V47V Substitution - coding silent Large_intestine COSM261531 KDM5A c.713A>C p.K238T Substitution - Missense Large_intestine COSM1497323 ATRX c.2304G>C p.K768N Substitution - Missense Kidney COSM1169351 KDM6B c.1297T>C p.S433P Substitution - Missense Soft_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3695375 HDAC4 c.70C>T p.R24C Substitution - Missense Large_intestine COSM3865322 PRDM16 c.601G>A p.E201K Substitution - Missense Skin COSM4970472 MSH6 c.4001G>A p.R1334Q Substitution - Missense Central_nervous_system COSM4010192 RERE c.1644C>T p.P548P Substitution - coding silent Stomach COSM5989640 TET2 c.4311delG p.K1439fs*9 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM919616 SIRT1 c.1558G>T p.E520* Substitution - Nonsense Large_intestine COSM3440608 KAT6B c.2151C>T p.G717G Substitution - coding silent Skin COSM3619183 PRDM1 c.963G>A p.G321G Substitution - coding silent Skin COSM1205383 EP400 c.4184C>G p.S1395C Substitution - Missense Large_intestine COSM1497325 ATRX c.5562A>G p.L1854L Substitution - coding silent Kidney COSM3608891 BRD8 c.1372C>T p.P458S Substitution - Missense Skin COSM5108260 ACTL6B c.695_696insC p.N233fs*17 Insertion - Frameshift Breast COSM1629923 CHD9 c.7822-4C>A p.? Unknown Liver COSM5483273 TRRAP c.7997C>T p.P2666L Substitution - Missense Large_intestine COSM3398775 KMT2D c.7756G>C p.G2586R Substitution - Missense Central_nervous_system COSM934525 PRDM4 c.923A>G p.N308S Substitution - Missense Endometrium COSM3372112 FMR1 c.1541C>T p.S514L Substitution - Missense Thyroid COSM2011364 MORF4L1 c.225T>C p.P75P Substitution - coding silent Large_intestine COSM4930544 L3MBTL2 c.777G>T p.W259C Substitution - Missense Liver COSM5547305 NCOR1 c.3732_3758del27 p.K1244_G1252delKRSYESVEG Deletion - In frame Prostate COSM1361286 PRMT8 c.898C>T p.R300C Substitution - Missense Large_intestine COSM4571587 MGA c.5126T>G p.L1709R Substitution - Missense Skin COSM1334940 HDGF c.149delT p.F50fs*105 Deletion - Frameshift Large_intestine COSM240694 KMT2C c.13990_13996delTTTGGCC p.F4664fs*1 Deletion - Frameshift Prostate COSM1360183 EP400 c.7129C>T p.R2377* Substitution - Nonsense Large_intestine COSM3874528 TDRD6 c.2873G>T p.R958I Substitution - Missense Stomach COSM3632999 SND1 c.2180C>T p.S727F Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1215571 MSH6 c.2882G>T p.R961I Substitution - Missense Endometrium COSM352055 ASH1L c.4059C>T p.P1353P Substitution - coding silent Lung COSM736587 HDAC3 c.949G>T p.E317* Substitution - Nonsense Lung COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1116462 FMR1 c.781A>G p.T261A Substitution - Missense Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1255487 KDM2B c.2736C>A p.I912I Substitution - coding silent Oesophagus COSM215940 WHSC1 c.3448A>G p.T1150A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM145131 BAZ2B c.5227G>A p.A1743T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4494555 PRDM15 c.4358C>T p.S1453F Substitution - Missense Skin COSM22663 MEN1 c.959C>T p.P320L Substitution - Missense Parathyroid COSM4496278 AKAP1 c.471C>T p.F157F Substitution - coding silent Skin COSM1713595 EYA2 c.683G>A p.G228E Substitution - Missense Skin COSM1640884 CHD3 c.2690G>T p.R897M Substitution - Missense Stomach COSM905238 ACTA1 c.988A>G p.K330E Substitution - Missense Endometrium COSM2036159 PHRF1 c.1075G>A p.A359T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3930914 TDRD1 c.2470C>T p.Q824* Substitution - Nonsense Urinary_tract COSM454813 NCOA2 c.1863G>A p.V621V Substitution - coding silent Breast COSM4796387 JMJD1C c.903G>A p.K301K Substitution - coding silent Liver COSM52847 PBRM1 c.1819-1G>C p.? Unknown Kidney COSM939504 ARID2 c.2591C>T p.A864V Substitution - Missense Endometrium COSM5825728 EP400 c.8205_8206insCAG p.Q2748_T2749insQ Insertion - In frame Large_intestine COSM3660856 PRDM5 c.1113C>A p.S371R Substitution - Missense Liver COSM4996006 DNMT3B c.2463G>T p.M821I Substitution - Missense Upper_aerodigestive_tract COSM1704988 ING4 c.595C>T p.L199F Substitution - Missense Skin COSM5670532 TET2 c.2334G>T p.Q778H Substitution - Missense Soft_tissue COSM5041912 BAZ2A_ENST00000379441 c.736+1G>A p.? Unknown Liver COSM3656487 SMARCA2 c.501C>T p.P167P Substitution - coding silent Skin COSM4898234 EYA2 c.876C>T p.S292S Substitution - coding silent Pancreas COSM699900 INOC1 c.3295G>A p.D1099N Substitution - Missense Lung COSM77943 KDM5C c.536G>A p.R179H Substitution - Missense Salivary_gland COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5994915 DHX30 c.3302T>G p.L1101R Substitution - Missense Prostate COSM975885 NCOR1 c.196C>A p.R66R Substitution - coding silent Endometrium COSM5920958 CHD9 c.5795G>A p.R1932K Substitution - Missense Skin COSM987915 ASXL3 c.1706A>C p.K569T Substitution - Missense Endometrium COSM5981772 PRDM15 c.3218G>A p.R1073H Substitution - Missense Upper_aerodigestive_tract COSM4042405 KMT2D c.2213C>T p.P738L Substitution - Missense Stomach COSM353444 CDYL c.639G>C p.Q213H Substitution - Missense Lung COSM1285102 GABRG1 c.529C>T p.L177L Substitution - coding silent Autonomic_ganglia COSM1490739 RBBP7 c.1209+1G>T p.? Unknown Breast COSM5680480 TDRD3 c.1781A>G p.Y594C Substitution - Missense Soft_tissue COSM3846821 FXR1 c.1628G>A p.R543K Substitution - Missense Breast COSM1091557 BAZ1B c.3684C>T p.C1228C Substitution - coding silent Endometrium COSM3890663 BAHCC1 c.4349G>A p.R1450Q Substitution - Missense Skin COSM6005473 KDM6A c.1373C>T p.P458L Substitution - Missense Breast COSM133012 IKZF1 c.41-?_160+?del120 p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3987627 BAZ1A c.3000T>C p.V1000V Substitution - coding silent Kidney COSM4694905 KDM2B c.933C>T p.D311D Substitution - coding silent Large_intestine COSM5009621 EP300 c.2989A>G p.I997V Substitution - Missense Large_intestine COSM4672004 CHD4 c.2923C>T p.R975C Substitution - Missense Large_intestine COSM1732544 SMARCA2 c.2872C>T p.L958F Substitution - Missense Soft_tissue COSM1753985 BRD8 c.1447G>A p.E483K Substitution - Missense Urinary_tract COSM5826522 PHF2 c.2955_2956ins15 p.T996_S997insTPAST Insertion - In frame Large_intestine COSM3300326 BAZ2B c.409C>T p.P137S Substitution - Missense Breast COSM254551 ARID1A c.1897C>T p.Q633* Substitution - Nonsense Urinary_tract COSM1602217 HDAC1 c.839-2A>G p.? Unknown Liver COSM4115538 FXR1 c.372T>A p.N124K Substitution - Missense Stomach COSM4508358 PHF13 c.772C>T p.L258L Substitution - coding silent Skin COSM1078040 PHF1 c.963G>A p.E321E Substitution - coding silent Endometrium COSM417009 CREBBP c.3221C>G p.S1074* Substitution - Nonsense Urinary_tract COSM4444071 PBRM1 c.2885A>T p.D962V Substitution - Missense Large_intestine COSM4627902 BRWD1 c.5839G>A p.D1947N Substitution - Missense Large_intestine COSM1488451 HDAC9 c.1846C>T p.P616S Substitution - Missense Breast COSM5019629 SMARCA4 c.1509A>G p.A503A Substitution - coding silent Soft_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3356337 MBD6 c.1766C>T p.P589L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1177907 PRDM16 c.1863G>A p.T621T Substitution - coding silent Endometrium COSM1709449 CDYL2 c.1481_1482CC>TT p.S494F Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM118900 PRDM15 c.4161G>A p.P1387P Substitution - coding silent Ovary COSM5014588 DAXX c.2003G>A p.S668N Substitution - Missense Kidney COSM1262039 PHF16 c.1267C>T p.P423S Substitution - Missense Oesophagus COSM5787756 TIF1 c.1603-10G>A p.? Unknown Breast COSM5634898 CXXC1 c.401G>A p.R134Q Substitution - Missense Oesophagus COSM95062 PRDM16 c.745A>G p.K249E Substitution - Missense Lung COSM387901 NCOA2 c.3502C>T p.L1168F Substitution - Missense Lung COSM262011 MGMT c.328G>T p.E110* Substitution - Nonsense Large_intestine COSM722972 KDM3A c.3933G>A p.L1311L Substitution - coding silent Lung COSM5393733 EP300 c.1322G>A p.S441N Substitution - Missense Skin COSM5500752 PHF15 c.517G>A p.E173K Substitution - Missense Biliary_tract COSM1089 SMARCB1 c.986+57insAA p.? Unknown Haematopoietic_and_lymphoid_tissue COSM931222 SUV420H1 c.193C>T p.R65C Substitution - Missense Endometrium COSM1423580 SETD2 c.815T>G p.V272G Substitution - Missense Large_intestine COSM87150 TET2 c.4082G>A p.G1361D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5028152 CTCF c.874A>G p.R292G Substitution - Missense Breast COSM356446 GTF3C1 c.488T>A p.I163K Substitution - Missense Lung COSM226673 TDRD1 c.1381C>T p.Q461* Substitution - Nonsense Skin COSM5923353 CHD6 c.4837A>G p.R1613G Substitution - Missense Skin COSM1308627 HDAC11 c.617G>A p.R206H Substitution - Missense Urinary_tract COSM1185605 PYGO2 c.530C>T p.P177L Substitution - Missense Lung COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Breast COSM164777 TAF1L c.3754C>T p.R1252W Substitution - Missense Breast COSM1621429 BAG6 c.1169delC p.P390fs*61 Deletion - Frameshift Liver COSM3706559 MGA c.4564A>T p.S1522C Substitution - Missense Breast COSM290707 TAF1L c.3918G>T p.V1306V Substitution - coding silent Large_intestine COSM1671898 KDM3B c.2743C>T p.R915C Substitution - Missense Liver COSM5014911 ERCC6 c.2135C>A p.T712N Substitution - Missense Kidney COSM3729944 PHF14 c.2128delA p.E712fs*97 Deletion - Frameshift Skin COSM255213 MEN1 c.1621A>G p.T541A Substitution - Missense Soft_tissue COSM5757217 MYST3 c.3720G>T p.E1240D Substitution - Missense Large_intestine COSM3701500 SIRT6 c.362G>T p.R121L Substitution - Missense Liver COSM5811689 MTF2 c.88A>G p.K30E Substitution - Missense Liver COSM1026881 CHD6 c.973T>G p.F325V Substitution - Missense Large_intestine COSM37029 EZH2 c.1937A>C p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3901340 NCOA2 c.2304A>G p.R768R Substitution - coding silent Stomach COSM1716599 TET2 c.3337_3346del10 p.D1113fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4603245 PCGF6 c.84_85insGCCTCC p.P28_V29insAS Insertion - In frame Upper_aerodigestive_tract COSM4000327 CBX4 c.871T>C p.S291P Substitution - Missense Skin COSM88742 CREBBP c.4459C>T p.H1487Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5097323 PRMT1 c.571+7G>A p.? Unknown Large_intestine COSM5058273 ATF2 c.1081C>T p.R361* Substitution - Nonsense Stomach COSM4712855 PCNA c.754G>A p.A252T Substitution - Missense Large_intestine COSM1632064 SMEK2 c.1672A>G p.I558V Substitution - Missense Liver COSM1685378 TET2 c.4889C>A p.S1630* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3514776 RAI1 c.4521C>T p.A1507A Substitution - coding silent Skin COSM5909265 KMT2D c.14387C>T p.S4796F Substitution - Missense Skin COSM1685372 TET2 c.1259C>G p.S420* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1711237 SETBP1 c.1384C>T p.P462S Substitution - Missense Skin COSM215434 SFMBT2 c.1412C>G p.S471C Substitution - Missense Central_nervous_system COSM1752416 SP140_ENST00000392045 c.1600G>A p.E534K Substitution - Missense Urinary_tract COSM1640467 MYST1 c.295C>T p.R99W Substitution - Missense Stomach COSM4641649 EP400 c.4983C>T p.G1661G Substitution - coding silent Large_intestine COSM46433 HNF1A c.618_628del11 p.W206fs*10 Deletion - Frameshift Liver COSM1114031 ZBTB33 c.1569G>A p.P523P Substitution - coding silent Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3724529 SMARCA4 c.2438+1G>A p.? Unknown Ovary COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM53311 IDH2 c.? p.R140W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM88748 CREBBP c.4337G>A p.R1446H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM159174 ARID1B c.2535G>A p.M845I Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1067081 PRDM9 c.1248C>A p.F416L Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1578112 ARID1A c.1841C>G p.S614* Substitution - Nonsense Urinary_tract COSM5487054 RAI1 c.1080G>A p.P360P Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5709781 PRDM1 c.301_302insG p.I102fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1099899 MYST3 c.5370A>C p.G1790G Substitution - coding silent Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM26905 INOC1 c.3498-1G>A p.? Unknown Lung COSM5809515 PRDM9 c.521A>T p.K174M Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4915942 PRMT10 c.2399T>C p.L800S Substitution - Missense Liver COSM466405 KMT2A c.10841T>C p.L3614P Substitution - Missense Kidney COSM701705 MORF4L1 c.88-1G>A p.? Unknown Lung COSM37032 EZH2 c.1937A>G p.Y646C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4652825 RAI1 c.1488G>A p.P496P Substitution - coding silent Large_intestine COSM1710675 BPTF c.1348C>T p.Q450* Substitution - Nonsense Skin COSM3870947 KDM2B c.609C>T p.I203I Substitution - coding silent Skin COSM1159149 ARID1A c.2929_2932delCCAG p.A978fs*3 Deletion - Frameshift Pancreas COSM3661806 NIPBL c.358+8T>G p.? Unknown Liver COSM1186796 CHD1 c.4556C>G p.P1519R Substitution - Missense Lung COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1580528 ARID1A c.5944G>A p.V1982I Substitution - Missense Soft_tissue COSM220386 EZH2 c.2045C>G p.A682G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM133032 IKZF1 c.161-?_715+?del555 p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5999588 RSF1 c.3481C>T p.R1161C Substitution - Missense Prostate COSM1169634 PBRM1 c.? p.? Unknown Salivary_gland COSM1733347 PRMT10 c.847-3delT p.? Unknown Large_intestine COSM4723006 RTF1 c.1412G>A p.R471Q Substitution - Missense Large_intestine COSM5944915 DNMT3A c.2322G>T p.E774D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3842893 BRD1 c.1783G>T p.E595* Substitution - Nonsense Breast COSM3880296 STK31 c.1870C>T p.P624S Substitution - Missense Stomach COSM25180 PRDM16 c.3398G>A p.S1133N Substitution - Missense Lung COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Skin COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43420 TET2 c.4546C>T p.R1516* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM85197 EHMT1 c.1939C>G p.P647A Substitution - Missense Pancreas COSM100067 TET2 c.783_783delC p.C262fs*31 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM96923 IDH1 c.211G>A p.V71I Substitution - Missense Thyroid COSM87146 TET2 c.4044+1G>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM124515 MTA2 c.421C>T p.L141F Substitution - Missense Upper_aerodigestive_tract COSM141222 KMT2C c.11215C>A p.Q3739K Substitution - Missense Upper_aerodigestive_tract COSM144574 PHF6 c.779_780ins11 p.D262fs*21 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Central_nervous_system COSM206758 ASH1L c.3904C>T p.R1302W Substitution - Missense Stomach COSM224255 GABRG1 c.1231G>A p.D411N Substitution - Missense Skin COSM225109 TAF1 c.2527C>T p.R843W Substitution - Missense Endometrium COSM225883 KMT2C c.2968A>G p.S990G Substitution - Missense Central_nervous_system COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Lung COSM270820 CREBBP c.5424C>A p.C1808* Substitution - Nonsense Large_intestine COSM305337 ZMYM3 c.166G>T p.A56S Substitution - Missense Central_nervous_system COSM307120 SETD8 c.267C>T p.A89A Substitution - coding silent Prostate COSM344646 SETBP1 c.1652C>A p.S551Y Substitution - Missense Lung COSM357074 KMT2C c.12466A>G p.R4156G Substitution - Missense Lung COSM397914 PHF2 c.110T>C p.V37A Substitution - Missense Lung COSM397193 SP100 c.985G>C p.E329Q Substitution - Missense Lung COSM419986 SETD2 c.3506+1G>A p.? Unknown Urinary_tract COSM484901 TRIM24 c.2596A>C p.I866L Substitution - Missense Kidney COSM954434 CHD8 c.3932C>T p.A1311V Substitution - Missense Endometrium COSM743363 PHF3 c.2227C>T p.H743Y Substitution - Missense Lung COSM710127 SMARCA4 c.1975G>T p.E659* Substitution - Nonsense Lung COSM908617 ZMYM6 c.1535G>A p.G512E Substitution - Missense Endometrium COSM896935 ASH1L c.2615T>G p.I872S Substitution - Missense Endometrium COSM959479 SETD3 c.174G>T p.E58D Substitution - Missense Endometrium COSM961490 MGA c.264C>A p.F88L Substitution - Missense Endometrium COSM1240002 RAI1 c.1127C>T p.P376L Substitution - Missense Oesophagus COSM1200998 CHD7 c.4067A>G p.D1356G Substitution - Missense Large_intestine COSM1197087 BAZ1B c.3914C>T p.P1305L Substitution - Missense Liver COSM1184368 KMT2C c.3454G>T p.E1152* Substitution - Nonsense Large_intestine COSM1194744 PBRM1 c.145G>C p.V49L Substitution - Missense Lung COSM1210683 INOC1 c.1964A>G p.Q655R Substitution - Missense Large_intestine COSM1186021 MBD5 c.1150A>G p.N384D Substitution - Missense Lung COSM1190189 TRIM28 c.1325C>T p.P442L Substitution - Missense Lung COSM1289714 EP400 c.8181_8182insCAG p.Q2748_T2749insQ Insertion - In frame Large_intestine COSM1414089 BRWD1 c.4057A>G p.I1353V Substitution - Missense Large_intestine COSM1426607 PRDM5 c.44C>T p.S15F Substitution - Missense Large_intestine COSM1443796 DAXX c.8C>T p.T3I Substitution - Missense Large_intestine COSM1461433 EHMT1 c.1182A>C p.K394N Substitution - Missense Large_intestine COSM1361975 KMT2D c.12448C>T p.R4150W Substitution - Missense Large_intestine COSM1480719 MBD3 c.198G>A p.T66T Substitution - coding silent Breast COSM1582714 KMT2C c.3323+1G>A p.? Unknown Pancreas COSM1623078 BAZ1B c.579A>T p.R193S Substitution - Missense Liver COSM1628616 ARID2 c.5305C>T p.R1769* Substitution - Nonsense Skin COSM1697481 PHF3 c.4490C>T p.P1497L Substitution - Missense Oesophagus COSM1730938 ARID1A c.3319A>G p.I1107V Substitution - Missense Liver COSM1742209 SMYD4 c.616G>T p.E206* Substitution - Nonsense Urinary_tract COSM1748373 ZMYM1 c.3024A>T p.T1008T Substitution - coding silent Urinary_tract COSM2152856 NSD1 c.2905G>A p.G969R Substitution - Missense Central_nervous_system COSM2777616 KIAA2026_ENST00000399933 c.1205A>G p.Q402R Substitution - Missense Large_intestine COSM2797886 BPTF c.8060C>A p.P2687H Substitution - Missense Large_intestine COSM2950006 BRPF1 c.1044G>T p.W348C Substitution - Missense Large_intestine COSM3022504 ARID1B c.6608G>T p.R2203L Substitution - Missense Large_intestine COSM3033684 MECP2 c.473C>T p.T158M Substitution - Missense Large_intestine COSM3144297 KDM5D c.850A>G p.T284A Substitution - Missense Upper_aerodigestive_tract COSM3358413 KDM5C c.3391delG p.E1131fs*16 Deletion - Frameshift Kidney COSM3447097 RAG2 c.447G>A p.G149G Substitution - coding silent Skin COSM3556125 MORF4L2 c.119G>A p.G40E Substitution - Missense Skin COSM3676773 PRDM2 c.4416A>C p.K1472N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3665713 EPC1 c.152C>A p.S51* Substitution - Nonsense Liver COSM3707011 SETD1A c.2630C>T p.A877V Substitution - Missense Liver COSM3720056 DNMT3B c.2559A>G p.E853E Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3745189 RING1 c.175A>G p.M59V Substitution - Missense Liver COSM3770115 NCOR1 c.3839G>A p.G1280E Substitution - Missense Soft_tissue COSM3834976 NCOA2 c.1509A>C p.P503P Substitution - coding silent Breast COSM3906631 SMARCA2 c.4660G>T p.G1554C Substitution - Missense Stomach COSM3915324 MECOM c.772C>T p.P258S Substitution - Missense Skin COSM3874615 CDYL c.335G>A p.R112H Substitution - Missense Stomach COSM3963800 ZGPAT c.1016G>T p.R339I Substitution - Missense Lung COSM3968096 EP400 c.1563G>T p.P521P Substitution - coding silent Central_nervous_system COSM4047964 SETDB2 c.19G>A p.D7N Substitution - Missense Stomach COSM4044932 APOBEC1 c.154C>T p.R52* Substitution - Nonsense Stomach COSM3984309 LMNA c.918C>T p.L306L Substitution - coding silent Kidney COSM3986971 KMT2D c.7257G>C p.L2419L Substitution - coding silent Kidney COSM4113323 MBD4 c.350A>C p.K117T Substitution - Missense Stomach COSM4092288 SP100 c.1874C>A p.T625N Substitution - Missense Stomach COSM4099064 ZMYND8 c.2472G>A p.P824P Substitution - coding silent Stomach COSM4104563 TCF20 c.1209G>A p.V403V Substitution - coding silent Stomach COSM4075934 GATAD2A c.602G>A p.R201Q Substitution - Missense Liver COSM4070382 CHD3 c.3314G>A p.R1105H Substitution - Missense Stomach COSM4059651 GTF3C1 c.3541G>A p.A1181T Substitution - Missense Stomach COSM4072852 L3MBTL4 c.1526C>T p.T509M Substitution - Missense Large_intestine COSM4129609 NCOR1 c.568C>T p.R190* Substitution - Nonsense Upper_aerodigestive_tract COSM4147994 CHD8 c.172G>A p.V58M Substitution - Missense Oesophagus COSM4156446 HDAC10 c.1132C>A p.P378T Substitution - Missense Thyroid COSM41878 TET2 c.1147C>T p.Q383* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4498914 SETD2 c.3798C>T p.S1266S Substitution - coding silent Skin COSM4435757 EPC2 c.1573C>G p.L525V Substitution - Missense Oesophagus COSM4590278 KDM2A c.310A>G p.S104G Substitution - Missense Upper_aerodigestive_tract COSM4590278 KDM2A c.310A>G p.S104G Substitution - Missense Upper_aerodigestive_tract COSM4726205 SIRT5 c.89G>T p.C30F Substitution - Missense Large_intestine COSM4726211 SIRT7 c.886G>T p.V296L Substitution - Missense Large_intestine COSM4669280 CARM1 c.1521C>T p.S507S Substitution - coding silent Large_intestine COSM4714181 PHRF1 c.3526C>T p.R1176W Substitution - Missense Large_intestine COSM4641272 ATAD2 c.125C>T p.A42V Substitution - Missense Large_intestine COSM4613277 RSF1 c.1930delG p.E644fs*5 Deletion - Frameshift Large_intestine COSM4779899 CAMKMT c.227G>T p.G76V Substitution - Missense Liver COSM4920411 BAP1 c.438-2A>T p.? Unknown Liver COSM4841894 MGA c.537C>G p.L179L Substitution - coding silent Cervix COSM4954307 KMT2A c.3755C>G p.P1252R Substitution - Missense Liver COSM4958170 ING5 c.471G>T p.K157N Substitution - Missense Liver COSM5019570 ASXL1 c.3513G>A p.R1171R Substitution - coding silent Soft_tissue COSM5068875 MGA c.6001C>A p.Q2001K Substitution - Missense Large_intestine COSM5347121 ARID1A c.5635C>T p.R1879W Substitution - Missense Endometrium COSM5373758 TRIM66 c.3381C>T p.S1127S Substitution - coding silent Skin COSM5516334 CHD1 c.4191T>C p.G1397G Substitution - coding silent Biliary_tract COSM5648766 ZMYND8 c.1491C>G p.A497A Substitution - coding silent Oesophagus COSM5652710 ATF7IP c.674C>A p.A225D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5733012 KDM2A c.3443_3444insGCCTCTACT p.S1148>RPLL Complex - insertion inframe Pancreas COSM5743597 EP400 c.1711C>A p.L571I Substitution - Missense Small_intestine COSM5601238 CHD7 c.8420C>T p.P2807L Substitution - Missense Skin COSM5599907 MBD5 c.2762C>T p.S921F Substitution - Missense Skin COSM5610837 TET2 c.3033T>A p.N1011K Substitution - Missense Skin COSM5692560 TP53BP1 c.380C>G p.S127C Substitution - Missense Soft_tissue COSM5707557 BRWD1 c.639G>T p.W213C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5944377 ASXL1 c.1888_1892delCACCA p.H630fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5891162 DNMT3B c.608C>T p.P203L Substitution - Missense Skin COSM5892443 NCOA3 c.158C>T p.S53F Substitution - Missense Skin COSM5926951 BPTF c.5221C>T p.P1741S Substitution - Missense Skin COSM5989521 BRD3 c.1086+2T>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5989797 TET2 c.5736T>G p.H1912Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6004560 ASXL1 c.2151G>T p.R717S Substitution - Missense Prostate COSM85769 EZH2 c.? p.Y646? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM1651692 BAP1 c.? p.? Unknown Eye COSM1666864 BAP1 c.? p.P510fs*61 Unknown Urinary_tract COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5574291 ASXL1 c.? p.G646fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM6008252 PHF12 c.1135G>A p.V379I Substitution - Missense Prostate COSM4293948 DIDO1 c.4924A>C p.T1642P Substitution - Missense Upper_aerodigestive_tract COSM4500740 DIDO1 c.5727C>T p.P1909P Substitution - coding silent Skin COSM1107174 EHMT1 c.1067G>A p.R356H Substitution - Missense Upper_aerodigestive_tract COSM5708956 TET2 c.1315_1319delAACCA p.N439fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4825280 MGA c.8197C>G p.L2733V Substitution - Missense Cervix COSM5722303 TP53BP1 c.4001C>T p.A1334V Substitution - Missense Skin COSM3759496 KDM6A c.2177C>A p.T726K Substitution - Missense Soft_tissue COSM87011 DNMT3A c.2141C>G p.S714C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM253080 PYGO1 c.50-3delT p.? Unknown Liver COSM2866660 TRRAP c.5496C>T p.N1832N Substitution - coding silent Large_intestine COSM1469581 BRWD3 c.4694G>A p.R1565K Substitution - Missense Upper_aerodigestive_tract COSM1083667 MLL5 c.134_135delTA p.T47fs*18 Deletion - Frameshift Endometrium COSM20436 TAF1L c.1994delA p.K665fs*4 Deletion - Frameshift Biliary_tract COSM430521 HNF1A c.51C>G p.L17L Substitution - coding silent Liver COSM323996 TRIM66 c.3484G>T p.D1162Y Substitution - Missense Lung COSM5351710 TET2 c.2714_2715delAT p.M906fs*17 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4426553 GTF3C4 c.1947_1949delTGA p.D651delD Deletion - In frame Oesophagus COSM178432 SMCHD1 c.2480C>T p.A827V Substitution - Missense Large_intestine COSM3379109 DIDO1 c.2067C>T p.S689S Substitution - coding silent Pancreas COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM3411660 JHDM1D c.752T>A p.V251E Substitution - Missense Central_nervous_system COSM293638 GABRG1 c.792delT p.F264fs*3 Deletion - Frameshift Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM423169 PBRM1 c.4747delT p.*1583fs? Deletion - Frameshift Kidney COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM4988021 LBR c.851C>T p.T284M Substitution - Missense Soft_tissue COSM2853459 BAP1 c.1564C>A p.P522T Substitution - Missense Large_intestine COSM3947864 PRDM1 c.1555A>G p.N519D Substitution - Missense Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Biliary_tract COSM1635198 KMT2C c.2185A>G p.N729D Substitution - Missense Upper_aerodigestive_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Biliary_tract COSM5787465 KDM4C c.2359T>A p.F787I Substitution - Missense Breast COSM1027427 NCOA5 c.269_270delTT p.F90fs*2 Deletion - Frameshift Endometrium COSM1078020 DAXX c.1315G>T p.D439Y Substitution - Missense Endometrium COSM2006740 KMT2D c.13126G>T p.E4376* Substitution - Nonsense Lung COSM221106 KMT2D c.7557-1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1241098 DPF2 c.240_241insA p.R83fs*7 Insertion - Frameshift Oesophagus COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Biliary_tract COSM1025720 ASXL1 c.488A>C p.K163T Substitution - Missense Endometrium COSM5371134 KAT6B c.4504T>C p.S1502P Substitution - Missense Skin COSM1690771 SMYD1 c.1240G>A p.G414R Substitution - Missense Skin COSM315836 TCF20 c.3988G>A p.A1330T Substitution - Missense Soft_tissue COSM5945044 TET2 c.3635T>C p.L1212S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM338958 RAG2 c.581C>A p.S194* Substitution - Nonsense Lung COSM5016661 ZMYND8 c.3119-2_3119delAGC p.? Unknown Kidney COSM4595579 CHD1 c.2303C>T p.P768L Substitution - Missense Upper_aerodigestive_tract COSM4642944 KDM3B c.5242G>A p.V1748I Substitution - Missense Large_intestine COSM87001 DNMT3A c.2644C>A p.R882S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5020482 MECOM c.711G>A p.R237R Substitution - coding silent Soft_tissue COSM3761473 NCOA7 c.2826T>G p.D942E Substitution - Missense Pancreas COSM5558777 CHD8 c.5357T>A p.L1786Q Substitution - Missense Prostate COSM40629 SMARCC2 c.3063G>A p.G1021G Substitution - coding silent Central_nervous_system COSM5801156 APOBEC1 c.206_207insA p.F70fs*32 Insertion - Frameshift Breast COSM1212949 L3MBTL3 c.1654G>A p.A552T Substitution - Missense Large_intestine COSM150428 KMT2C c.2958A>G p.P986P Substitution - coding silent Upper_aerodigestive_tract COSM4878803 EYA1 c.678C>T p.Y226Y Substitution - coding silent Prostate COSM1187687 KIAA2026_ENST00000399933 c.4555A>G p.T1519A Substitution - Missense Lung COSM325193 DNMT3B c.1675-2A>T p.? Unknown Lung COSM2805045 BAHCC1 c.7598G>A p.G2533D Substitution - Missense Large_intestine COSM992148 BRD4 c.1357C>T p.R453C Substitution - Missense Endometrium COSM166346 DNMT3A c.? p.?fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM5055021 PRMT7 c.1087C>T p.R363C Substitution - Missense Stomach COSM1756455 MECP2 c.1243G>C p.E415Q Substitution - Missense Urinary_tract COSM1443747 RING1 c.511delG p.E173fs*14 Deletion - Frameshift Large_intestine COSM3547328 EYA2 c.293C>T p.S98F Substitution - Missense Skin COSM26493 MSH6 c.741delA p.K247fs*32 Deletion - Frameshift Stomach COSM5659187 SP110 c.434C>T p.P145L Substitution - Missense Soft_tissue COSM3525414 ASXL3 c.442G>A p.D148N Substitution - Missense Breast COSM1250795 DUSP1 c.941C>G p.A314G Substitution - Missense Oesophagus COSM3589913 MECOM c.197A>T p.N66I Substitution - Missense Skin COSM3891761 MBD3 c.654C>T p.F218F Substitution - coding silent Skin COSM2151583 CHD7 c.7470G>A p.S2490S Substitution - coding silent Central_nervous_system COSM4478945 ATAD2 c.227C>T p.S76F Substitution - Missense Upper_aerodigestive_tract COSM4672880 CLOCK c.263C>G p.T88S Substitution - Missense Large_intestine COSM3362725 BRD4 c.698T>A p.I233N Substitution - Missense Kidney COSM5380787 ZMYM6 c.3335A>G p.K1112R Substitution - Missense Skin COSM3396923 TDRD1 c.135A>G p.G45G Substitution - coding silent Central_nervous_system COSM4803161 TDRD7 c.1326T>G p.A442A Substitution - coding silent Liver COSM3781759 SMARCA5 c.27A>C p.P9P Substitution - coding silent Pancreas COSM5750548 SFMBT1 c.1655C>A p.P552H Substitution - Missense Stomach COSM3383015 KAT6B c.3228G>C p.E1076D Substitution - Missense Pancreas COSM2157292 ZGPAT c.872-2A>C p.? Unknown Central_nervous_system COSM1470990 EZH1 c.1147A>G p.T383A Substitution - Missense Prostate COSM5008490 NCOA6 c.716C>G p.P239R Substitution - Missense Large_intestine COSM4725165 SETD3 c.739G>A p.A247T Substitution - Missense Large_intestine COSM1616065 BRWD1 c.6247A>C p.N2083H Substitution - Missense Liver COSM5715681 PHF21B c.1213G>A p.E405K Substitution - Missense Skin COSM1756492 SCML2 c.1155G>A p.P385P Substitution - coding silent Urinary_tract COSM5930827 BAZ2B c.2195-1G>A p.? Unknown Skin COSM3526232 MBD1 c.1086C>T p.F362F Substitution - coding silent Skin COSM1196780 BAZ2A c.4436G>A p.R1479Q Substitution - Missense Lung COSM3092225 SMARCA2 c.4734A>G p.E1578E Substitution - coding silent Large_intestine COSM4672023 CHD4 c.1315G>A p.G439R Substitution - Missense Large_intestine COSM473482 KDM6B c.4667G>A p.R1556Q Substitution - Missense Kidney COSM5467813 SMARCA1 c.2127A>C p.K709N Substitution - Missense Large_intestine COSM1423179 SETMAR c.442delA p.G150fs*24 Deletion - Frameshift Large_intestine COSM3368153 BTAF1 c.2499T>C p.S833S Substitution - coding silent Thyroid COSM5823309 PHC1 c.2080C>G p.P694A Substitution - Missense Liver COSM1114799 SMARCA1 c.1458T>A p.G486G Substitution - coding silent Endometrium COSM221083 KMT2D c.10437_10440delACAG p.Q3480fs*79 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM442452 SP140_ENST00000392045 c.2471G>A p.R824H Substitution - Missense Breast COSM4049064 YY1 c.806A>G p.D269G Substitution - Missense Stomach COSM3716294 KIAA2026_ENST00000399933 c.287G>T p.G96V Substitution - Missense Upper_aerodigestive_tract COSM4801580 KMT2D c.9629A>T p.Q3210L Substitution - Missense Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3704185 KMT2D c.3332G>A p.G1111D Substitution - Missense Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33306 KMT2C c.5716C>T p.R1906* Substitution - Nonsense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5705658 CHD8 c.7042G>T p.A2348S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1622309 SND1 c.520C>T p.R174W Substitution - Missense Liver COSM4168125 TDRD6 c.1307G>T p.G436V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1713044 TRIM28 c.2153G>A p.R718H Substitution - Missense Skin COSM6005874 HDAC4 c.2690G>T p.G897V Substitution - Missense Small_intestine COSM2152985 DNMT3L c.220G>A p.A74T Substitution - Missense Central_nervous_system COSM3175978 PHIP c.2959A>G p.N987D Substitution - Missense Large_intestine COSM3353074 TDRD6 c.1973A>G p.K658R Substitution - Missense Large_intestine COSM41293 IDH1 c.? p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM23051 MEN1 c.1546_1547insC p.R516fs*15 Insertion - Frameshift Parathyroid COSM4071691 AP001011.3_ENST00000320876 c.639T>C p.S213S Substitution - coding silent Stomach COSM3203683 MECOM c.850G>A p.A284T Substitution - Missense Upper_aerodigestive_tract COSM133721 DNMT3A c.958C>T p.R320* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1676183 KAT5 c.1019G>C p.R340P Substitution - Missense Central_nervous_system COSM4435398 SETD3 c.345+3G>C p.? Unknown Oesophagus COSM5569349 RAI1 c.5496C>T p.T1832T Substitution - coding silent Prostate COSM3203683 MECOM c.850G>A p.A284T Substitution - Missense Upper_aerodigestive_tract COSM2894227 ATF2 c.548T>C p.V183A Substitution - Missense Large_intestine COSM4140979 TDRD5 c.1976T>A p.V659E Substitution - Missense Kidney COSM740186 L3MBTL3 c.2003G>T p.R668L Substitution - Missense Lung COSM4403076 BAZ1B c.3834T>C p.A1278A Substitution - coding silent Skin COSM4109785 SUV39H1 c.773T>A p.V258D Substitution - Missense Stomach COSM1166109 CBX3 c.25-2A>T p.? Unknown Pancreas COSM2221847 TRIM66 c.1438C>T p.P480S Substitution - Missense Large_intestine COSM1258617 MYST1 c.222A>C p.E74D Substitution - Missense Oesophagus COSM5573675 DOT1L c.4866T>C p.P1622P Substitution - coding silent Prostate COSM1212333 KIAA2026_ENST00000399933 c.5331T>G p.I1777M Substitution - Missense Large_intestine COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2818190 BRWD1 c.3537T>C p.L1179L Substitution - coding silent Large_intestine COSM6004048 UHRF1 c.1143C>T p.S381S Substitution - coding silent Prostate COSM5019618 DAXX c.1137T>C p.Y379Y Substitution - coding silent Soft_tissue COSM5630943 KMT2C c.10519C>T p.R3507* Substitution - Nonsense Oesophagus COSM979601 EZH1 c.1311T>C p.A437A Substitution - coding silent Endometrium COSM5807260 SMARCA4 c.2193C>G p.Y731* Substitution - Nonsense Liver COSM5095502 BAP1 c.752_753delAC p.N251fs*32 Deletion - Frameshift Thymus COSM3153237 EP300 c.7073C>T p.P2358L Substitution - Missense Skin COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5589390 ZBTB4 c.1932_1946del15 p.D644_E648delDEEEE Deletion - In frame Skin COSM219390 KDM5C c.2150C>T p.S717L Substitution - Missense Breast COSM5501141 SIRT7 c.698G>A p.R233Q Substitution - Missense Biliary_tract COSM452878 STK31 c.2505G>T p.M835I Substitution - Missense Breast COSM442456 SP100 c.1157G>A p.R386K Substitution - Missense Breast COSM139052 RAI1 c.1826C>T p.S609F Substitution - Missense Skin COSM4472505 SRCAP c.1788C>T p.P596P Substitution - coding silent Skin COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM211687 TET2 c.2095_2096ins42 p.L699fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5577338 CHD3 c.750C>T p.I250I Substitution - coding silent Skin COSM1983007 LMNA c.832G>C p.A278P Substitution - Missense Thyroid COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52984 DNMT3A c.? p.R882S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3013873 PRDM9 c.2457C>T p.L819L Substitution - coding silent Skin COSM940298 SMARCD1 c.790C>T p.R264* Substitution - Nonsense Endometrium COSM987899 ASXL3 c.275C>A p.S92Y Substitution - Missense Large_intestine COSM240632 MECP2 c.148G>A p.A50T Substitution - Missense Prostate COSM4666089 BRD3 c.1474_1476delAAG p.K492delK Deletion - In frame Large_intestine COSM229898 TDRD5 c.1532C>T p.S511F Substitution - Missense Skin COSM3754332 TP53BP1 c.1234G>A p.G412S Substitution - Missense Soft_tissue COSM4070309 CBX2 c.1122C>T p.H374H Substitution - coding silent Stomach COSM3701608 ASXL1 c.831A>G p.P277P Substitution - coding silent Liver COSM724830 DIDO1 c.2761C>T p.H921Y Substitution - Missense Lung COSM333411 CAMKMT c.942G>A p.P314P Substitution - coding silent Lung COSM1131647 KMT2C c.2755G>C p.V919L Substitution - Missense Soft_tissue COSM1241853 TRRAP c.1465A>G p.T489A Substitution - Missense Oesophagus COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3374565 KMT2C c.11541G>C p.K3847N Substitution - Missense Thyroid COSM125331 PHF12 c.1667C>G p.P556R Substitution - Missense Upper_aerodigestive_tract COSM4603233 DIDO1 c.4878_4879insC p.A1627fs*53 Insertion - Frameshift Upper_aerodigestive_tract COSM5905736 TRRAP c.3176-8C>T p.? Unknown Skin COSM328978 KMT2C c.8390delA p.K2797fs*26 Deletion - Frameshift Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5574795 NCOA2 c.505A>G p.T169A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5386857 AKAP1 c.2603C>T p.P868L Substitution - Missense Skin COSM1716614 ATRX c.663-1G>C p.? Unknown Central_nervous_system COSM2818092 BRWD1 c.6239C>T p.T2080I Substitution - Missense Large_intestine COSM34090 IDH2 c.516G>T p.R172S Substitution - Missense Central_nervous_system COSM51999 TET2 c.? p.P101H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3689567 EYA3 c.296T>C p.L99P Substitution - Missense Large_intestine COSM334759 TIF1 c.676C>G p.H226D Substitution - Missense Lung COSM1237092 MEN1 c.491C>A p.A164D Substitution - Missense Parathyroid COSM34090 IDH2 c.516G>T p.R172S Substitution - Missense Central_nervous_system COSM4520876 JMJD5 c.967G>A p.D323N Substitution - Missense Skin COSM5462557 GLYR1 c.93G>T p.K31N Substitution - Missense Large_intestine COSM5446640 PHRF1 c.3056_3067del12 p.G1019_S1022delGTRS Deletion - In frame Thyroid COSM1073179 L3MBTL3 c.870T>C p.C290C Substitution - coding silent Endometrium COSM1642601 BRD8 c.533_534insC p.R179fs*19 Insertion - Frameshift Stomach COSM353995 LMNB2 c.1657G>T p.A553S Substitution - Missense Lung COSM436099 NCOR1 c.514delT p.S172fs*10 Deletion - Frameshift Breast COSM5490579 PBRM1 c.3164A>G p.D1055G Substitution - Missense Biliary_tract COSM5380971 SCMH1 c.172G>A p.V58I Substitution - Missense Skin COSM3422397 SMARCA4 c.4188G>A p.T1396T Substitution - coding silent Stomach COSM3706538 BAHD1 c.1219G>A p.V407M Substitution - Missense Liver COSM3622281 ARID1B c.3851C>T p.P1284L Substitution - Missense Skin COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3455333 TDG c.193C>T p.P65S Substitution - Missense Skin COSM3723034 PHF2 c.2976C>A p.T992T Substitution - coding silent Thyroid COSM930496 KAT5 c.983G>A p.R328H Substitution - Missense Endometrium COSM1030723 BRWD1 c.839C>T p.P280L Substitution - Missense Endometrium COSM1245447 ARID1A c.1207C>T p.Q403* Substitution - Nonsense Oesophagus COSM216993 KDM4D c.1010A>G p.K337R Substitution - Missense Liver COSM2720150 CHD7 c.7537C>T p.R2513W Substitution - Missense Large_intestine COSM1177096 KMT2C c.4724A>C p.N1575T Substitution - Missense Endometrium COSM954446 CHD8 c.2098C>T p.R700C Substitution - Missense Endometrium COSM3744078 ZMYM2 c.3392G>T p.R1131L Substitution - Missense Liver COSM1383605 HDAC5 c.370C>T p.L124L Substitution - coding silent Large_intestine COSM217037 ARID1A c.3843T>G p.Y1281* Substitution - Nonsense Liver COSM3955897 CHD8 c.3518+5G>A p.? Unknown Lung COSM452728 KMT2C c.2379G>A p.S793S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM255097 MEN1 c.272_275delCCCG p.R92fs*26 Deletion - Frameshift Parathyroid COSM452728 KMT2C c.2379G>A p.S793S Substitution - coding silent Thyroid COSM1248201 CHD2 c.2607T>G p.A869A Substitution - coding silent Oesophagus COSM42008 TET2 c.3895A>G p.K1299E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4590050 PRDM10 c.1332A>C p.E444D Substitution - Missense Upper_aerodigestive_tract COSM3022391 ARID1B c.4406C>T p.A1469V Substitution - Missense Large_intestine COSM4953659 DNMT3L c.440C>T p.P147L Substitution - Missense Liver COSM3751149 PHC2 c.2547C>T p.Y849Y Substitution - coding silent Large_intestine COSM88806 TET2 c.? p.Q884* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM42075 TET2 c.3965T>C p.L1322P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4085343 MBD5 c.2306T>C p.V769A Substitution - Missense Stomach COSM4414674 JARID2 c.2990T>C p.V997A Substitution - Missense Kidney COSM894494 TTF2 c.2561T>C p.V854A Substitution - Missense Endometrium COSM144591 DNMT3A c.2333_2333delT p.V778fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM706278 EZH1 c.1785G>A p.W595* Substitution - Nonsense Lung COSM5451587 DIDO1 c.5538G>T p.K1846N Substitution - Missense Large_intestine COSM3954429 EP400 c.9120G>A p.A3040A Substitution - coding silent Large_intestine COSM133038 EZH2 c.2035G>A p.V679M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1341888 PRDM16 c.2956C>T p.R986C Substitution - Missense Breast COSM452742 KMT2C c.1099C>T p.H367Y Substitution - Missense Skin COSM4896656 JMJD1C c.385T>G p.L129V Substitution - Missense Skin COSM4097545 ASXL1 c.1634G>A p.R545H Substitution - Missense Stomach COSM5610642 SMARCB1 c.689C>A p.P230Q Substitution - Missense Skin COSM5572408 MBD5 c.544T>C p.Y182H Substitution - Missense Prostate COSM1659316 MBD1 c.1003_1010delAACCGCAA p.N335fs*57 Deletion - Frameshift Kidney COSM4846259 TAF1L c.3823G>C p.E1275Q Substitution - Missense Cervix COSM5552552 TAF1L c.2390A>G p.D797G Substitution - Missense Prostate COSM3525424 ASXL3 c.724G>A p.D242N Substitution - Missense Skin COSM1255154 JARID2 c.880C>T p.R294W Substitution - Missense Oesophagus COSM29149 KDM6A c.2929C>A p.L977I Substitution - Missense Kidney COSM468463 KMT2D c.786C>T p.A262A Substitution - coding silent Kidney COSM3420984 CREBBP c.212C>T p.S71L Substitution - Missense Cervix COSM1391090 BRD4 c.815C>T p.P272L Substitution - Missense Large_intestine COSM939996 KMT2D c.12898A>G p.T4300A Substitution - Missense Endometrium COSM469790 CHD8 c.1733G>A p.R578H Substitution - Missense Cervix COSM970564 CREBBP c.4483A>T p.K1495* Substitution - Nonsense Endometrium COSM1756087 PSIP1 c.56C>T p.P19L Substitution - Missense Urinary_tract COSM908433 PHC2 c.201G>A p.Q67Q Substitution - coding silent Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1109566 KDM4C c.802G>A p.E268K Substitution - Missense Endometrium COSM1211797 KDM6A c.3638G>A p.R1213Q Substitution - Missense Large_intestine COSM3819259 SUZ12 c.2073G>A p.G691G Substitution - coding silent Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4754511 MBD1 c.1753C>T p.R585* Substitution - Nonsense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM78083 MGA c.1A>G p.M1V Substitution - Missense Ovary COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5026921 CHD7 c.2862G>A p.K954K Substitution - coding silent Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM331262 EPC2 c.117C>A p.P39P Substitution - coding silent Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3112933 SRCAP c.4618A>G p.T1540A Substitution - Missense Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3749492 DOT1L c.4156G>A p.G1386S Substitution - Missense Large_intestine COSM5812439 SMARCA1 c.546A>T p.P182P Substitution - coding silent Liver COSM1265342 SETD2 c.3584G>C p.R1195T Substitution - Missense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM916824 TRDMT1 c.1075+7G>A p.? Unknown Endometrium COSM3440618 KAT6B c.6052C>T p.Q2018* Substitution - Nonsense Skin COSM1681609 ASXL1 c.1773C>A p.Y591* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4749839 DNMT1 c.1856C>T p.T619I Substitution - Missense Stomach COSM99740 DNMT3A c.2645G>C p.R882P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM99740 DNMT3A c.2645G>C p.R882P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5691608 CHD7 c.7604G>C p.S2535T Substitution - Missense Soft_tissue COSM1341890 PRDM16 c.3210C>T p.D1070D Substitution - coding silent Large_intestine COSM3795031 PRMT7 c.1547C>T p.S516L Substitution - Missense Urinary_tract COSM1644085 BRWD3 c.5173C>T p.R1725* Substitution - Nonsense Stomach COSM2245998 ARID4A c.1386A>G p.I462M Substitution - Missense Large_intestine COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM1602142 ARID1A c.2530C>T p.Q844* Substitution - Nonsense Liver COSM4431664 SIRT6 c.365C>G p.S122* Substitution - Nonsense Oesophagus COSM3508927 SRCAP c.8642C>T p.P2881L Substitution - Missense Skin COSM5578300 CHD8 c.3388C>T p.R1130C Substitution - Missense Skin COSM1449812 HDAC9 c.961C>A p.L321M Substitution - Missense Large_intestine COSM4908514 MYST3 c.3181T>A p.L1061I Substitution - Missense Kidney COSM4410851 SUV39H2 c.634delA p.R213fs*2 Deletion - Frameshift Kidney COSM4630386 MBD1 c.1040G>A p.R347Q Substitution - Missense Large_intestine COSM211899 EPC1 c.91T>C p.Y31H Substitution - Missense Breast COSM3509557 CREBBP c.3329C>G p.P1110R Substitution - Missense Skin COSM3844860 HDAC6 c.2536T>A p.S846T Substitution - Missense Breast COSM3505535 CHD2 c.2356C>A p.L786I Substitution - Missense Skin COSM4449450 PRDM15 c.2342delA p.K781fs*102 Deletion - Frameshift Skin COSM253079 PYGO1 c.50-4_50-3delTT p.? Unknown Ovary COSM5731657 TRRAP c.8359G>A p.E2787K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1169695 TET2 c.? p.T1047fs*9 Frameshift Haematopoietic_and_lymphoid_tissue COSM4991672 IDH1 c.99C>T p.P33P Substitution - coding silent Skin COSM909537 SCMH1 c.1631C>T p.A544V Substitution - Missense Endometrium COSM13926 SMARCD3 c.481G>C p.D161H Substitution - Missense Lung COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24900 HNF1A c.632A>C p.Q211P Substitution - Missense Liver COSM33366 ZMYM4 c.4228C>T p.R1410W Substitution - Missense Large_intestine COSM37030 EZH2 c.1936T>C p.Y646H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43436 TET2 c.973C>T p.Q325* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53013 EZH2 c.2138T>C p.I713T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85822 ATRX c.3824_3840del17 p.M1275fs*7 Deletion - Frameshift Pancreas COSM70612 EP400 c.5813A>C p.H1938P Substitution - Missense Ovary COSM87138 TET2 c.3893G>A p.C1298Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM121075 KMT2D c.15720T>A p.Y5240* Substitution - Nonsense Upper_aerodigestive_tract COSM138405 MECOM c.515C>T p.S172L Substitution - Missense Skin COSM221140 KMT2D c.15635_15636delTG p.V5212fs*7 Deletion - Frameshift Breast COSM213189 PRMT2 c.813C>G p.F271L Substitution - Missense Breast COSM227218 MSH6 c.718C>T p.R240* Substitution - Nonsense Skin COSM227556 BTAF1 c.5089C>T p.P1697S Substitution - Missense Skin COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Prostate COSM254628 CREBBP c.1063C>T p.Q355* Substitution - Nonsense Urinary_tract COSM255190 PHF6 c.968+2_968+5delTAAG p.? Unknown Haematopoietic_and_lymphoid_tissue COSM273750 SCML2 c.1951_1952insC p.L651fs*9 Insertion - Frameshift Large_intestine COSM299707 ATAD2 c.1573C>T p.P525S Substitution - Missense Large_intestine COSM325480 HDAC4 c.420G>T p.E140D Substitution - Missense Lung COSM329169 BAHCC1 c.5756G>A p.R1919Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM355616 KDM6A c.959C>T p.T320I Substitution - Missense Lung COSM354759 DIDO1 c.239T>G p.I80S Substitution - Missense Lung COSM364789 EYA1 c.851C>A p.S284* Substitution - Nonsense Stomach COSM400993 SMYD3 c.795C>T p.N265N Substitution - coding silent Lung COSM392293 MGA c.2897_2898delAG p.K966fs*3 Deletion - Frameshift Lung COSM422121 MYST3 c.3244A>G p.R1082G Substitution - Missense Urinary_tract COSM422745 PBRM1 c.172C>T p.R58* Substitution - Nonsense Kidney COSM448654 KDM3B c.3489T>C p.G1163G Substitution - coding silent Thyroid COSM455828 TAF1L c.2495G>A p.R832H Substitution - Missense Large_intestine COSM456029 KDM4C c.362G>A p.R121H Substitution - Missense Endometrium COSM984414 ZBTB4 c.1933G>A p.E645K Substitution - Missense Endometrium COSM480338 PBRM1 c.2941G>T p.E981* Substitution - Nonsense Kidney COSM693660 KMT2D c.3139G>T p.G1047* Substitution - Nonsense Lung COSM693245 KDM5A c.4848A>C p.A1616A Substitution - coding silent Lung COSM695012 APOBEC1 c.400C>T p.L134F Substitution - Missense Lung COSM1053621 ING2 c.605C>T p.P202L Substitution - Missense Endometrium COSM1029000 DIDO1 c.184C>T p.R62W Substitution - Missense Large_intestine COSM937501 ATF7IP c.1706G>A p.R569H Substitution - Missense Endometrium COSM705621 SUZ12 c.995C>T p.A332V Substitution - Missense Lung COSM735551 KDM3B c.963A>G p.R321R Substitution - coding silent Lung COSM923595 KMT2A c.8312C>A p.S2771Y Substitution - Missense Endometrium COSM926755 RAG2 c.1035C>A p.F345L Substitution - Missense Endometrium COSM990735 SMARCA4 c.451G>A p.G151S Substitution - Missense Endometrium COSM989554 L3MBTL4 c.470A>C p.K157T Substitution - Missense Endometrium COSM1040963 MECOM c.2249G>A p.R750Q Substitution - Missense Pancreas COSM1034552 EP300 c.3842G>A p.R1281Q Substitution - Missense Endometrium COSM1045698 DHX30 c.3130A>G p.N1044D Substitution - Missense Endometrium COSM1071544 CHD1 c.4255G>T p.E1419* Substitution - Nonsense Endometrium COSM1130019 DNMT1 c.2189G>A p.R730H Substitution - Missense Prostate COSM1088197 HDAC9 c.2921C>T p.A974V Substitution - Missense Skin COSM1100904 CHD7 c.8175C>T p.I2725I Substitution - coding silent Endometrium COSM1166621 JARID2 c.3005_3006insG p.Q1003fs*25 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1236245 KDM5A c.1810C>T p.R604C Substitution - Missense Autonomic_ganglia COSM1251231 EP400 c.86_87insG p.A30fs*35 Insertion - Frameshift Oesophagus COSM1194896 NCOA5 c.556G>C p.E186Q Substitution - Missense Lung COSM1183565 ARID1B c.5118G>T p.L1706F Substitution - Missense Large_intestine COSM1266342 SND1 c.417G>C p.M139I Substitution - Missense Oesophagus COSM1226967 SND1 c.2045A>G p.Y682C Substitution - Missense Large_intestine COSM1606141 ARID2 c.3817C>T p.R1273* Substitution - Nonsense Upper_aerodigestive_tract COSM1303973 SMARCA4 c.2222G>A p.R741K Substitution - Missense Urinary_tract COSM1331699 HDAC8 c.146C>T p.A49V Substitution - Missense Ovary COSM1467079 SCML2 c.308G>T p.R103I Substitution - Missense Large_intestine COSM1448360 TIF1 c.1171C>T p.R391C Substitution - Missense Skin COSM1445546 PHF3 c.474delA p.A161fs*13 Deletion - Frameshift Large_intestine COSM1581869 TRRAP c.6070G>A p.V2024I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1680033 BPTF c.6368C>T p.S2123L Substitution - Missense Lung COSM1753302 BAP1 c.505C>T p.H169Y Substitution - Missense Pleura COSM1740720 SMARCB1 c.1117A>T p.R373W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1936694 BAZ2A c.785T>C p.V262A Substitution - Missense Large_intestine COSM2749508 LMNB2 c.195C>G p.T65T Substitution - coding silent Large_intestine COSM2758153 NCOA6 c.4149T>C p.N1383N Substitution - coding silent Prostate COSM3126254 SMARCA5 c.1286T>C p.M429T Substitution - Missense Large_intestine COSM3255732 PHF14 c.566G>A p.R189Q Substitution - Missense Large_intestine COSM3296180 MBD5 c.2415T>C p.N805N Substitution - coding silent Upper_aerodigestive_tract COSM3296305 EPC2 c.1952G>A p.R651H Substitution - Missense Breast COSM3356314 KMT2D c.15068T>A p.L5023H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3365378 PBRM1 c.2934C>G p.V978V Substitution - coding silent Kidney COSM3388296 BAHCC1 c.5395A>T p.I1799F Substitution - Missense Pancreas COSM3371751 DIDO1 c.664G>A p.D222N Substitution - Missense Thyroid COSM3396818 BAZ1B c.250T>A p.Y84N Substitution - Missense Breast COSM3396081 BAZ2A c.4687C>T p.R1563W Substitution - Missense Prostate COSM3508915 SRCAP c.6957C>T p.F2319F Substitution - coding silent Skin COSM3453547 RSF1 c.3827G>A p.R1276Q Substitution - Missense Skin COSM3445292 PRDM10 c.2485C>T p.P829S Substitution - Missense Skin COSM3548776 DIDO1 c.5359G>A p.A1787T Substitution - Missense Skin COSM3662251 JARID2 c.1307G>A p.G436E Substitution - Missense Liver COSM3672208 JMJD5 c.1104C>A p.P368P Substitution - coding silent Prostate COSM3720617 DNMT1 c.4C>T p.P2S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3740597 PRDM2 c.1232G>A p.R411H Substitution - Missense Liver COSM3857060 CHD1 c.697C>T p.R233C Substitution - Missense Stomach COSM3862921 ASH1L c.1277C>T p.A426V Substitution - Missense Skin COSM3857088 PRDM13 c.2056G>T p.V686L Substitution - Missense Stomach COSM3821674 L3MBTL4 c.1046A>C p.H349P Substitution - Missense Breast COSM3845468 BRWD3 c.1649A>G p.K550R Substitution - Missense Breast COSM3874615 CDYL c.335G>A p.R112H Substitution - Missense Upper_aerodigestive_tract COSM3973873 ATRX c.7206C>A p.I2402I Substitution - coding silent Central_nervous_system COSM4031168 EYA3 c.316G>A p.A106T Substitution - Missense Stomach COSM4010188 RERE c.2793G>A p.P931P Substitution - coding silent Stomach COSM4046350 ZMYM2 c.1252G>T p.G418* Substitution - Nonsense Stomach COSM3988161 MORF4L1 c.664T>C p.Y222H Substitution - Missense Kidney COSM4086766 HAT1 c.682T>C p.Y228H Substitution - Missense Stomach COSM4113231 RUVBL1 c.952G>A p.A318T Substitution - Missense Stomach COSM4120591 SETD5_ENST00000402198 c.2830C>G p.L944V Substitution - Missense Stomach COSM4070398 CHD3 c.5949C>T p.D1983D Substitution - coding silent Stomach COSM4064159 NCOR1 c.4125G>A p.R1375R Substitution - coding silent Stomach COSM4170106 TET2 c.3811_3812insG p.C1271fs*29 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4170127 TET2 c.2474delC p.S825fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41598 ASXL1 c.1210C>T p.R404* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4538750 MBD6 c.2597G>A p.R866K Substitution - Missense Skin COSM4575226 EP400 c.8414C>T p.P2805L Substitution - Missense Bone COSM4426429 INOC1 c.1202G>A p.R401H Substitution - Missense Oesophagus COSM4431838 MTF2 c.1195delA p.K400fs*3 Deletion - Frameshift Oesophagus COSM4493256 EYA1 c.411C>T p.S137S Substitution - coding silent Skin COSM4422673 LBR c.117G>A p.V39V Substitution - coding silent Kidney COSM4657455 BRWD3 c.33G>A p.E11E Substitution - coding silent Parathyroid COSM4689179 GTF3C1 c.4536G>A p.T1512T Substitution - coding silent Large_intestine COSM4736783 TRRAP c.7878G>A p.Q2626Q Substitution - coding silent Large_intestine COSM4674642 CREBBP c.6325G>A p.V2109M Substitution - Missense Large_intestine COSM4733147 TET2 c.1724C>T p.A575V Substitution - Missense Large_intestine COSM4618396 SMARCA5 c.2285C>T p.A762V Substitution - Missense Large_intestine COSM4762636 KMT2C c.6754C>T p.Q2252* Substitution - Nonsense Stomach COSM4746026 BPTF c.3128A>T p.E1043V Substitution - Missense Central_nervous_system COSM4796489 SUV420H2 c.129G>A p.R43R Substitution - coding silent Liver COSM4882048 BPTF c.8329G>T p.E2777* Substitution - Nonsense Upper_aerodigestive_tract COSM4938441 PHF12 c.484A>G p.S162G Substitution - Missense Liver COSM4926485 MGA c.7421G>A p.R2474H Substitution - Missense Liver COSM4913174 DIDO1 c.5510T>G p.V1837G Substitution - Missense Liver COSM4856801 EP300 c.3709G>T p.D1237Y Substitution - Missense Cervix COSM4816425 PHF20 c.2325G>A p.P775P Substitution - coding silent Cervix COSM4820232 KMT2C c.8575C>T p.H2859Y Substitution - Missense Cervix COSM4960716 DPF2 c.395G>A p.G132D Substitution - Missense Liver COSM4989965 ERCC6 c.3995G>A p.G1332D Substitution - Missense Skin COSM4991287 DOT1L c.2709C>T p.P903P Substitution - coding silent Skin COSM4995439 ARID1A c.6536G>T p.S2179I Substitution - Missense Upper_aerodigestive_tract COSM5025889 SETD5_ENST00000402198 c.3413C>T p.S1138F Substitution - Missense Breast COSM5064014 KIAA2026_ENST00000399933 c.582G>A p.A194A Substitution - coding silent Stomach COSM5041508 MYST3 c.355A>C p.K119Q Substitution - Missense Liver COSM5467062 EZH2 c.666A>C p.K222N Substitution - Missense Large_intestine COSM5444863 KMT2D c.11458C>T p.Q3820* Substitution - Nonsense Oesophagus COSM5434422 CHD6 c.2067G>C p.K689N Substitution - Missense Oesophagus COSM5715409 DOT1L c.2024G>A p.G675E Substitution - Missense Skin COSM5721211 EYA1 c.1678G>A p.E560K Substitution - Missense Skin COSM5707866 HAT1 c.395_396delAG p.K132fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5561757 MECP2 c.528C>G p.P176P Substitution - coding silent Prostate COSM5776294 AP001011.3_ENST00000320876 c.2363A>G p.Y788C Substitution - Missense Breast COSM5792831 TDRD6 c.5088G>A p.E1696E Substitution - coding silent Breast COSM5816082 ACTR6 c.930G>A p.Q310Q Substitution - coding silent Liver COSM5886933 SETD1A c.568C>T p.P190S Substitution - Missense Skin COSM5893638 CHD4 c.4150C>T p.P1384S Substitution - Missense Skin COSM5990383 KDM5C c.197C>T p.T66I Substitution - Missense Liver COSM5968524 SMARCA4 c.2481C>A p.P827P Substitution - coding silent Genital_tract COSM6008973 EP300 c.4453-2A>G p.? Unknown Large_intestine COSM6003117 BPTF c.5537G>T p.G1846V Substitution - Missense Prostate COSM6004560 ASXL1 c.2151G>T p.R717S Substitution - Missense Prostate COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5985647 ARID1A c.? p.V2046L Substitution - Missense Salivary_gland COSM1746620 EED c.484C>T p.L162L Substitution - coding silent Urinary_tract COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM1221876 PRDM14 c.995G>A p.R332H Substitution - Missense Large_intestine COSM1287366 PRDM16 c.517C>T p.R173C Substitution - Missense Autonomic_ganglia COSM1318422 KDM6B c.881G>A p.R294H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3365002 HDAC11 c.37G>C p.E13Q Substitution - Missense Kidney COSM4612764 MBD2 c.443_444insA p.R149fs*37 Insertion - Frameshift Large_intestine COSM5453339 SUV420H2 c.115G>T p.V39L Substitution - Missense Large_intestine COSM5618986 HCFC2 c.1095G>A p.L365L Substitution - coding silent Breast COSM263892 STK31 c.1960G>A p.E654K Substitution - Missense Large_intestine COSM371386 MBD5 c.280G>A p.E94K Substitution - Missense Skin COSM2818180 BRWD1 c.3707C>T p.A1236V Substitution - Missense Large_intestine COSM4071705 AP001011.3_ENST00000320876 c.4335C>T p.C1445C Substitution - coding silent Stomach COSM3443965 KMT2A c.4963C>T p.R1655W Substitution - Missense Skin COSM4768018 DNMT3A c.2458G>C p.E820Q Substitution - Missense Biliary_tract COSM5898396 SFMBT2 c.859G>A p.E287K Substitution - Missense Skin COSM1075360 ARID1B c.5410G>A p.G1804S Substitution - Missense Endometrium COSM52007 TET2 c.? p.L226fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM3981139 KAT6B c.1715G>A p.R572H Substitution - Missense Ovary COSM20436 TAF1L c.1994delA p.K665fs*4 Deletion - Frameshift Large_intestine COSM293576 SETD1A c.3643G>A p.A1215T Substitution - Missense Large_intestine COSM5387562 CHD3 c.3758T>C p.I1253T Substitution - Missense Skin COSM6018600 ATRX c.6083G>A p.R2028Q Substitution - Missense Skin COSM230133 KMT2C c.1173C>A p.C391* Substitution - Nonsense Upper_aerodigestive_tract COSM3878705 JHDM1D c.703A>T p.M235L Substitution - Missense Stomach COSM3812596 BAZ2A c.5014G>A p.E1672K Substitution - Missense Breast COSM6005039 BRD1 c.1656+7C>A p.? Unknown Prostate COSM1019108 NCOA1 c.118A>C p.N40H Substitution - Missense Endometrium COSM4590380 KMT2C c.7443A>T p.R2481S Substitution - Missense Upper_aerodigestive_tract COSM1741943 ARID1A c.3951_3952insGG p.M1318fs*164 Insertion - Frameshift Urinary_tract COSM5686296 HCFC1 c.2559C>T p.T853T Substitution - coding silent Soft_tissue COSM1700240 EYA1 c.1408G>A p.E470K Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4793770 PRDM10 c.3364G>A p.D1122N Substitution - Missense Liver COSM254571 BRPF1 c.3049G>A p.A1017T Substitution - Missense Urinary_tract COSM947871 SETDB2 c.715G>T p.E239* Substitution - Nonsense Endometrium COSM4458777 AIRE c.1099C>T p.P367S Substitution - Missense Skin COSM4381212 PYGO1 c.755delA p.N252fs*9 Deletion - Frameshift Large_intestine COSM5723153 DIDO1 c.6713C>T p.S2238L Substitution - Missense Skin COSM1628611 ARID2 c.4613delT p.I1538fs*28 Deletion - Frameshift Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5415440 CBX4 c.813G>T p.E271D Substitution - Missense Prostate COSM5963608 PRDM15 c.160T>G p.C54G Substitution - Missense Breast COSM1979957 PHF21A c.447G>T p.V149V Substitution - coding silent Upper_aerodigestive_tract COSM4955313 HDAC4 c.1119C>T p.A373A Substitution - coding silent Liver COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3626157 BRPF3 c.52C>T p.P18S Substitution - Missense Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM681798 ORC1 c.216C>A p.F72L Substitution - Missense Lung COSM1583105 DNMT3A c.2311C>G p.R771G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM486470 MYST3 c.4164G>C p.Q1388H Substitution - Missense Kidney COSM4153759 PHF14 c.2841G>C p.K947N Substitution - Missense Ovary COSM238945 BAZ1B c.884C>T p.P295L Substitution - Missense Prostate COSM452278 SND1 c.2661C>T p.S887S Substitution - coding silent Breast COSM1720120 PRDM9 c.1145-1G>A p.? Unknown Skin COSM2098345 CHD4 c.4600G>A p.G1534R Substitution - Missense Large_intestine COSM894178 TRIM33 c.2710A>C p.K904Q Substitution - Missense Endometrium COSM3987162 CHD4 c.1534C>T p.Q512* Substitution - Nonsense Kidney COSM4116588 KAT2B c.962G>A p.R321Q Substitution - Missense Stomach COSM3749702 ACTR5 c.18C>T p.F6F Substitution - coding silent Large_intestine COSM985413 CBX4 c.685C>A p.P229T Substitution - Missense Endometrium COSM422311 PHF2 c.615C>T p.F205F Substitution - coding silent Stomach COSM87001 DNMT3A c.2644C>A p.R882S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3633867 TIF1 c.3004C>T p.R1002W Substitution - Missense Skin COSM2795454 SMARCD2 c.499G>A p.A167T Substitution - Missense Stomach COSM34212 ASXL1 c.2385delC p.W796fs*22 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1363345 MBD6 c.2074delC p.Q694fs*5 Deletion - Frameshift Large_intestine COSM3494957 CHD8 c.520C>T p.H174Y Substitution - Missense Skin COSM4574545 PHRF1 c.2301A>G p.K767K Substitution - coding silent Bone COSM3812556 SMARCC2 c.2333G>T p.G778V Substitution - Missense Breast COSM1099534 ASH2L c.436C>A p.H146N Substitution - Missense Endometrium COSM3930092 KDM4C c.183T>G p.Y61* Substitution - Nonsense Central_nervous_system COSM4409939 BRDT c.2363C>T p.S788F Substitution - Missense Oesophagus COSM5413025 ZMYM3 c.1879C>T p.R627W Substitution - Missense Skin COSM3420710 IDH2 c.1261G>A p.G421S Substitution - Missense Ovary COSM5985150 DNMT3A c.1958T>G p.L653W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM30490 KMT2D c.8545A>T p.K2849* Substitution - Nonsense Kidney COSM5945593 PHF6 c.586-2A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5880130 BRDT c.1411C>T p.P471S Substitution - Missense Skin COSM290827 PRDM15 c.3699G>C p.K1233N Substitution - Missense Large_intestine COSM1659800 KMT2A c.3495G>A p.E1165E Substitution - coding silent Kidney COSM4798555 SMARCB1 c.1067T>C p.L356P Substitution - Missense Liver COSM2965450 KDM6A c.3588T>C p.N1196N Substitution - coding silent Upper_aerodigestive_tract COSM4013507 ZMYND11 c.178G>C p.D60H Substitution - Missense Stomach COSM1496527 SND1 c.313C>T p.Q105* Substitution - Nonsense Kidney COSM3492905 RERE c.2779C>T p.H927Y Substitution - Missense Skin COSM723114 ASXL1 c.4099G>A p.V1367I Substitution - Missense Lung COSM2874573 NCOA2 c.3632G>A p.S1211N Substitution - Missense Large_intestine COSM5476687 TDRD6 c.383G>A p.G128D Substitution - Missense Large_intestine COSM5017884 CHD3 c.822delC p.R276fs*19 Deletion - Frameshift Soft_tissue COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Central_nervous_system COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM87010 DNMT3A c.2309C>G p.S770W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5735142 PRDM15 c.3598G>A p.V1200M Substitution - Missense Pancreas COSM5945461 EP300 c.4453-2A>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM305985 PHF6 c.730-1G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4801087 TAF1L c.3941T>C p.M1314T Substitution - Missense Liver COSM4064168 NCOR1 c.1751G>A p.R584Q Substitution - Missense Stomach COSM4162000 KMT2C c.2706G>A p.S902S Substitution - coding silent Thyroid COSM305985 PHF6 c.730-1G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3384409 KMT2D c.14941G>T p.E4981* Substitution - Nonsense Pancreas COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1031242 AIRE c.572C>T p.A191V Substitution - Missense Endometrium COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Bone COSM446638 DHX30 c.3238G>C p.V1080L Substitution - Missense Breast COSM432527 TDRD3 c.267G>A p.P89P Substitution - coding silent Breast COSM1713595 EYA2 c.683G>A p.G228E Substitution - Missense Skin COSM235195 PHIP c.2964C>T p.P988P Substitution - coding silent Skin COSM738283 PRDM9 c.765G>T p.Q255H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5490626 ARID1A c.4993G>T p.G1665* Substitution - Nonsense Biliary_tract COSM488157 MECP2 c.393C>G p.A131A Substitution - coding silent Kidney COSM1101389 PRDM14 c.1342C>T p.R448W Substitution - Missense Endometrium COSM123750 INOC1 c.1940A>C p.Q647P Substitution - Missense Upper_aerodigestive_tract COSM1245455 ARID2 c.1264C>A p.L422I Substitution - Missense Stomach COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3737403 PRDM16 c.1704C>T p.G568G Substitution - coding silent Soft_tissue COSM1197530 MYST3 c.5668G>A p.A1890T Substitution - Missense Lung COSM1685364 SETBP1 c.2612T>C p.I871T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4982364 TET2 c.4356delA p.V1454fs*4 Deletion - Frameshift Oesophagus COSM4772596 NCOA5 c.1179G>A p.A393A Substitution - coding silent Stomach COSM5676391 ZMYM1 c.935G>A p.S312N Substitution - Missense Soft_tissue COSM3291661 CHD6 c.5462G>T p.S1821I Substitution - Missense Large_intestine COSM721730 MSH6 c.457+1G>T p.? Unknown Lung COSM3896556 ATAD2 c.2098G>A p.A700T Substitution - Missense Stomach COSM3849260 SETDB1 c.1100T>G p.V367G Substitution - Missense Pancreas COSM1568336 TDRD6 c.2743_2744insA p.N917fs*15 Insertion - Frameshift Large_intestine COSM3973904 ATRX c.5351T>G p.I1784S Substitution - Missense Central_nervous_system COSM1363039 SMARCC2 c.3128delC p.P1043fs*18 Deletion - Frameshift Breast COSM280851 ERCC6 c.2606A>G p.D869G Substitution - Missense Large_intestine COSM28803 KDM6A c.1-?_225+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1639822 ARID1A c.5689delC p.P1898fs*25 Deletion - Frameshift Oesophagus COSM372350 ZMYM3 c.2387C>A p.P796Q Substitution - Missense Lung COSM1487942 PHIP c.1292C>A p.A431D Substitution - Missense Breast COSM79522 ATF7IP c.465C>A p.T155T Substitution - coding silent Ovary COSM937144 EP400 c.1952C>A p.P651H Substitution - Missense Endometrium COSM3464380 CHD4 c.2552C>T p.S851F Substitution - Missense Skin COSM3747319 PHF6 c.313T>C p.Y105H Substitution - Missense Liver COSM5605105 TDRD5 c.198C>T p.V66V Substitution - coding silent Skin COSM484584 MLL5 c.4763A>G p.Q1588R Substitution - Missense Kidney COSM1486016 CLOCK c.1327_1328delAC p.T443fs*28 Deletion - Frameshift Breast COSM1333887 SETDB1 c.989G>A p.R330H Substitution - Missense Large_intestine COSM1300486 CHD8 c.1658C>G p.S553* Substitution - Nonsense Urinary_tract COSM1262045 PHF20 c.659A>G p.D220G Substitution - Missense Oesophagus COSM4605320 TET2 c.4140T>C p.H1380H Substitution - coding silent Upper_aerodigestive_tract COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5960207 DNMT3L c.577_578insC p.L193fs*5 Insertion - Frameshift Thyroid COSM1562939 MGA c.7045G>C p.D2349H Substitution - Missense Large_intestine COSM1745541 KDM6A c.2619_2620insA p.N874fs*5 Insertion - Frameshift Urinary_tract COSM147497 KMT2D c.2015-8C>T p.? Unknown Soft_tissue COSM4054566 MGA c.5031T>A p.Y1677* Substitution - Nonsense Stomach COSM427630 ERCC6 c.4238A>G p.Q1413R Substitution - Missense Soft_tissue COSM5947980 CREBBP c.1775G>A p.W592* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1754205 NSD1 c.7740G>A p.A2580A Substitution - coding silent Urinary_tract COSM1668244 TDRD5 c.1484C>T p.S495L Substitution - Missense Skin COSM1675303 SIRT1 c.2059G>A p.E687K Substitution - Missense Large_intestine COSM337399 SMEK1 c.1334C>T p.P445L Substitution - Missense Lung COSM5361230 PRDM4 c.1610-6delT p.? Unknown Large_intestine COSM1429839 GABRG1 c.940A>G p.T314A Substitution - Missense Large_intestine COSM5630001 BAZ1A c.2356G>A p.E786K Substitution - Missense Oesophagus COSM2153785 KMT2C c.12899C>A p.S4300Y Substitution - Missense Central_nervous_system COSM1083 SMARCB1 c.?_?del? p.?del Deletion - In frame Central_nervous_system COSM3441510 BTAF1 c.4407A>C p.I1469I Substitution - coding silent Skin COSM435380 CHD9 c.1288C>G p.H430D Substitution - Missense Breast COSM133134 DNMT3A c.2257T>G p.W753G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5753272 CHD3 c.2246delT p.F749fs*11 Deletion - Frameshift Pancreas COSM3834973 NCOA2 c.3729G>A p.L1243L Substitution - coding silent Breast COSM4124019 WHSC1 c.3959G>A p.R1320Q Substitution - Missense Stomach COSM1404906 IDH1 c.212T>C p.V71A Substitution - Missense Large_intestine COSM3523590 BAHCC1 c.3273G>A p.P1091P Substitution - coding silent Skin COSM1480707 BRD4 c.1638G>C p.K546N Substitution - Missense Breast COSM4427622 DNMT1 c.4340_4341delCA p.S1447fs*1 Deletion - Frameshift Oesophagus COSM309523 BRD9 c.1135-3C>G p.? Unknown Lung COSM937193 EP400 c.9192T>C p.V3064V Substitution - coding silent Endometrium COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1583135 DNMT3A c.2635A>G p.N879D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM728559 MBD4 c.1501G>C p.E501Q Substitution - Missense Lung COSM1254018 HDAC9 c.2354A>G p.H785R Substitution - Missense Oesophagus COSM175512 EHMT2 c.2218C>T p.R740C Substitution - Missense Large_intestine COSM4892953 PWWP2B c.1014C>T p.H338H Substitution - coding silent Skin COSM734366 GABRG1 c.436C>A p.P146T Substitution - Missense Lung COSM5737104 SMARCA5 c.1379C>A p.P460Q Substitution - Missense Small_intestine COSM3751406 RERE c.3945A>G p.R1315R Substitution - coding silent Thyroid COSM918656 ERCC6 c.3260G>A p.R1087Q Substitution - Missense Upper_aerodigestive_tract COSM734369 GABRG1 c.511T>G p.W171G Substitution - Missense Lung COSM4059782 CCDC101 c.619C>T p.R207W Substitution - Missense Stomach COSM3171674 NCOA7 c.590G>A p.R197Q Substitution - Missense Large_intestine COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1009562 HAT1 c.550T>C p.W184R Substitution - Missense Endometrium COSM1700245 EYA1 c.319G>A p.A107T Substitution - Missense Skin COSM5122937 MTA1 c.849C>T p.D283D Substitution - coding silent Large_intestine COSM1461447 EHMT1 c.3450C>T p.D1150D Substitution - coding silent Large_intestine COSM1672348 BRPF3 c.143G>A p.R48H Substitution - Missense Large_intestine COSM5717499 GTF3C4 c.477A>G p.P159P Substitution - coding silent Skin COSM4753673 HDAC5 c.2746G>A p.V916M Substitution - Missense Stomach COSM255147 MEN1 c.? p.S512* Substitution - Nonsense Parathyroid COSM4386171 KMT2C c.2228C>T p.P743L Substitution - Missense Large_intestine COSM5599937 KMT2D c.9532C>T p.P3178S Substitution - Missense Skin COSM4717897 PRMT8 c.95A>C p.Q32P Substitution - Missense Large_intestine COSM1342109 ZMYM6 c.292delA p.M98fs*49 Deletion - Frameshift Large_intestine COSM3935118 JMJD1C c.6086C>T p.S2029L Substitution - Missense Oesophagus COSM1184399 BAHCC1 c.5888C>T p.P1963L Substitution - Missense Large_intestine COSM4385080 ASXL1 c.1914C>T p.T638T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM2813800 SMARCA4 c.4329C>T p.R1443R Substitution - coding silent Stomach COSM4935934 SFMBT2 c.1012C>T p.L338L Substitution - coding silent Liver COSM970548 CREBBP c.6281C>T p.P2094L Substitution - Missense Endometrium COSM5067297 TDG c.613_615-3del201 p.? Unknown Large_intestine COSM4525641 MBD6 c.1343G>A p.G448E Substitution - Missense Skin COSM42077 TET2 c.5636A>C p.E1879A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4753458 BRWD1 c.4687C>T p.R1563C Substitution - Missense Stomach COSM3726730 TRIM28 c.1395G>A p.V465V Substitution - coding silent Lung COSM51978 BAP1 c.757C>T p.Q253* Substitution - Nonsense Eye COSM1609363 GLYR1 c.1A>G p.M1V Substitution - Missense Liver COSM5056467 DOT1L c.4032G>A p.A1344A Substitution - coding silent Stomach COSM4655926 PHF15 c.447C>T p.L149L Substitution - coding silent Large_intestine COSM129890 TRIM24 c.3029T>G p.F1010C Substitution - Missense Upper_aerodigestive_tract COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Biliary_tract COSM1677490 EP400 c.4864C>A p.L1622I Substitution - Missense Large_intestine COSM111424 BPTF c.3943delA p.I1315fs*18 Deletion - Frameshift Ovary COSM5468843 TRRAP c.4014+10T>G p.? Unknown Large_intestine COSM4098433 CHD6 c.7857T>G p.P2619P Substitution - coding silent Stomach COSM419982 SETD2 c.2977C>T p.R993* Substitution - Nonsense Urinary_tract COSM3789892 RBBP4 c.1015G>A p.D339N Substitution - Missense Urinary_tract COSM1685937 MECOM c.692C>T p.S231F Substitution - Missense Skin COSM1051857 PRMT10 c.846+2T>C p.? Unknown Endometrium COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Upper_aerodigestive_tract COSM4749245 KIAA2026_ENST00000399933 c.3796A>T p.K1266* Substitution - Nonsense Stomach COSM321700 KMT2D c.13873A>G p.T4625A Substitution - Missense Lung COSM5925302 PRDM13 c.276G>A p.Q92Q Substitution - coding silent Skin COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Upper_aerodigestive_tract COSM4418176 PRMT8 c.1047G>A p.R349R Substitution - coding silent Breast COSM1349793 BTAF1 c.1160T>G p.V387G Substitution - Missense Large_intestine COSM1087538 KMT2C c.11610G>T p.K3870N Substitution - Missense Endometrium COSM3656862 TAF1L c.1906C>T p.R636C Substitution - Missense Biliary_tract COSM1360187 EP400 c.8184G>A p.Q2728Q Substitution - coding silent Large_intestine COSM4400414 SCMH1 c.1733A>C p.K578T Substitution - Missense Skin COSM6003150 JMJD6 c.237G>A p.W79* Substitution - Nonsense Prostate COSM5576273 SMARCA4 c.1631_1633delAGA p.K546delK Deletion - In frame Stomach COSM1180918 ASXL1 c.1927delG p.G645fs*58 Deletion - Frameshift Large_intestine COSM4488532 RERE c.3341C>T p.P1114L Substitution - Missense Skin COSM1080942 PHF3 c.429G>A p.Q143Q Substitution - coding silent Endometrium COSM4515328 GABRG1 c.1047_1048GG>AA p.M349_E350>IK Complex - compound substitution Skin COSM4949888 ARID1A c.128_129insGGC p.A45_E46insA Insertion - In frame Liver COSM3700280 ARID2 c.1951C>T p.Q651* Substitution - Nonsense Liver COSM4826483 MBD6 c.2363C>G p.S788* Substitution - Nonsense Cervix COSM1202568 CTCF c.1213A>G p.K405E Substitution - Missense Large_intestine COSM3296128 MBD5 c.1326C>A p.P442P Substitution - coding silent Upper_aerodigestive_tract COSM4507706 RAG2 c.753C>T p.V251V Substitution - coding silent Skin COSM1230637 TRRAP c.4339C>T p.R1447C Substitution - Missense Skin COSM6002807 RAI1 c.3973C>G p.R1325G Substitution - Missense Prostate COSM4752410 NCOA6 c.1643A>C p.Q548P Substitution - Missense Stomach COSM3736084 RNF17 c.1038A>C p.K346N Substitution - Missense Skin COSM3619203 PRDM1 c.1961C>T p.S654F Substitution - Missense Skin COSM920203 SFMBT2 c.285G>A p.T95T Substitution - coding silent Skin COSM21474 HNF1A c.710A>G p.N237S Substitution - Missense Liver COSM1427019 PHF17 c.2299G>A p.D767N Substitution - Missense Large_intestine COSM4067840 MBTD1 c.1067G>A p.R356H Substitution - Missense Stomach COSM3947391 PRDM9 c.854A>G p.E285G Substitution - Missense Lung COSM3940546 SETD2 c.986A>C p.K329T Substitution - Missense Oesophagus COSM1117707 HCFC1 c.5069G>A p.G1690D Substitution - Missense Endometrium COSM707003 MYST2 c.664-1G>T p.? Unknown Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3729231 KAT2B c.2236T>C p.W746R Substitution - Missense Stomach COSM3800394 SMARCA1 c.2359C>T p.Q787* Substitution - Nonsense Urinary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1330199 MLL5 c.2792A>G p.Y931C Substitution - Missense Ovary COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM36204 ASXL1 c.3965C>G p.P1322R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM136020 SUV420H1 c.1907C>T p.P636L Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3636457 KMT2C c.13019G>A p.G4340D Substitution - Missense Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1358486 PRDM4 c.1472G>A p.R491H Substitution - Missense Large_intestine COSM1364679 AICDA c.470G>T p.R157I Substitution - Missense Large_intestine COSM33732 IDH2 c.515G>T p.R172M Substitution - Missense Central_nervous_system COSM3624655 BAG6 c.1340C>T p.P447L Substitution - Missense Skin COSM52863 PBRM1 c.835delA p.I279fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5985657 ARID1A c.? p.P1484fs*10 Frameshift Lung COSM3447397 PRDM11 c.1411C>T p.P471S Substitution - Missense Skin COSM4031000 ARID1A c.526C>T p.Q176* Substitution - Nonsense Liver COSM5989311 C5orf35 c.98+2T>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5403284 PRDM9 c.1708C>T p.H570Y Substitution - Missense Skin COSM451292 RING1 c.1004A>G p.E335G Substitution - Missense Upper_aerodigestive_tract COSM1706179 TDG c.229A>G p.K77E Substitution - Missense Skin COSM5944121 ASXL1 c.2317G>T p.E773* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5980317 SMARCC2 c.2674G>A p.V892M Substitution - Missense Upper_aerodigestive_tract COSM4590631 GLYR1 c.1377C>G p.H459Q Substitution - Missense Upper_aerodigestive_tract COSM4487499 DNMT1 c.319C>T p.L107L Substitution - coding silent Skin COSM990441 DNMT1 c.2895T>A p.D965E Substitution - Missense Endometrium COSM1696440 HDAC3 c.314C>T p.S105L Substitution - Missense Skin COSM5944286 TET2 c.3331delT p.L1111fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM13342 MSH6 c.3495C>T p.C1165C Substitution - coding silent Central_nervous_system COSM13340 MSH6 c.1453C>T p.Q485* Substitution - Nonsense Central_nervous_system COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43440 TET2 c.1061C>G p.S354* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM51984 BAP1 c.2188T>A p.*730? Nonstop extension Kidney COSM51223 ARID1A c.4635G>A p.W1545* Substitution - Nonsense Lung COSM51234 ARID1A c.3634_3644del11 p.Q1212fs*4 Deletion - Frameshift Ovary COSM85850 MEN1 c.581_582insACAG p.E195fs*2 Insertion - Frameshift Pancreas COSM95513 WHSC1L1 c.1444T>C p.S482P Substitution - Missense Breast COSM97039 ASXL1 c.2507_2507delC p.T836fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41706 TET2 c.4354C>T p.R1452* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM162483 MINA c.523G>C p.G175R Substitution - Missense Breast COSM184236 ARID1A c.2077C>T p.R693* Substitution - Nonsense Salivary_gland COSM218388 LBR c.589T>G p.F197V Substitution - Missense Pancreas COSM215749 SMARCA4 c.2461G>A p.E821K Substitution - Missense Urinary_tract COSM249592 NSD1 c.3835A>C p.K1279Q Substitution - Missense Kidney COSM224951 KMT2C c.2170A>T p.K724* Substitution - Nonsense Kidney COSM245125 KAT2A c.398G>A p.R133H Substitution - Missense Prostate COSM269679 MYST3 c.5064G>A p.Q1688Q Substitution - coding silent Large_intestine COSM260970 FMR1 c.1580G>A p.R527H Substitution - Missense Large_intestine COSM280386 DIDO1 c.3393C>T p.V1131V Substitution - coding silent Large_intestine COSM276886 PRDM5 c.592G>T p.E198* Substitution - Nonsense Large_intestine COSM296222 EP300 c.6819T>G p.V2273V Substitution - coding silent Large_intestine COSM296072 BMI1 c.221C>G p.T74S Substitution - Missense Large_intestine COSM315877 TET2 c.644C>T p.A215V Substitution - Missense Lung COSM318345 CREBBP c.5140G>T p.V1714L Substitution - Missense Lung COSM400324 LBR c.239C>G p.S80* Substitution - Nonsense Lung COSM478083 PHF20 c.834G>T p.L278F Substitution - Missense Kidney COSM484284 PHF3 c.3710A>G p.E1237G Substitution - Missense Kidney COSM553342 ARID4A c.1684G>A p.E562K Substitution - Missense Urinary_tract COSM941752 BAZ2A c.3233G>A p.R1078H Substitution - Missense Endometrium COSM1048967 SETD5_ENST00000402198 c.236G>A p.G79E Substitution - Missense Endometrium COSM937190 EP400 c.8595G>A p.M2865I Substitution - Missense Endometrium COSM1026102 NCOA6 c.1527A>G p.G509G Substitution - coding silent Endometrium COSM707109 JMJD6 c.813G>C p.W271C Substitution - Missense Lung COSM732446 PRMT10 c.1105G>C p.E369Q Substitution - Missense Lung COSM912524 RERE c.1739C>T p.S580L Substitution - Missense Endometrium COSM990466 DNMT1 c.151G>A p.E51K Substitution - Missense Endometrium COSM1007219 MBD5 c.1424C>A p.P475Q Substitution - Missense Endometrium COSM969209 JMJD5 c.722C>T p.S241L Substitution - Missense Endometrium COSM1131918 EHMT2 c.50C>A p.A17D Substitution - Missense Upper_aerodigestive_tract COSM1087647 KMT2C c.2519C>T p.P840L Substitution - Missense Endometrium COSM1099928 MYST3 c.3386G>A p.R1129Q Substitution - Missense Endometrium COSM1203536 DHX30 c.887G>A p.R296H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1184973 BRWD1 c.2087G>A p.S696N Substitution - Missense Large_intestine COSM1257776 KMT2A c.7612G>T p.A2538S Substitution - Missense Stomach COSM1161249 SMARCA4 c.1593+2T>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1312869 KMT2C c.7361G>C p.R2454T Substitution - Missense Urinary_tract COSM1307612 DIDO1 c.2496C>T p.V832V Substitution - coding silent Urinary_tract COSM1269669 UBR7 c.35delC p.S12fs*42 Deletion - Frameshift Stomach COSM1327402 BRWD1 c.324G>C p.R108S Substitution - Missense Ovary COSM1425056 ATXN7 c.972C>T p.D324D Substitution - coding silent Large_intestine COSM1427434 PRMT10 c.566G>A p.G189E Substitution - Missense Large_intestine COSM1447013 MLL5 c.2736G>A p.T912T Substitution - coding silent Stomach COSM1367542 TDRD3 c.585T>C p.D195D Substitution - coding silent Large_intestine COSM1358319 HCFC2 c.167C>T p.T56M Substitution - Missense Large_intestine COSM1562090 HDAC7 c.1027C>T p.R343W Substitution - Missense Large_intestine COSM1564740 BAZ2B c.853G>A p.D285N Substitution - Missense Large_intestine COSM1492148 BRDT c.1691T>A p.L564Q Substitution - Missense Kidney COSM1476838 CHD4 c.2629C>T p.R877W Substitution - Missense Breast COSM1616549 PHF21B c.264G>A p.R88R Substitution - coding silent Liver COSM1622581 SMARCD3 c.319C>A p.Q107K Substitution - Missense Liver COSM1637582 CHD9 c.7214T>C p.I2405T Substitution - Missense Bone COSM1680121 CBX2 c.764C>T p.S255F Substitution - Missense Large_intestine COSM1682746 BRWD3 c.1973A>C p.Q658P Substitution - Missense Large_intestine COSM1672580 PHIP c.1378C>A p.H460N Substitution - Missense Large_intestine COSM1716722 ATRX c.5956+3_5956+6delGAGT p.? Unknown Central_nervous_system COSM1716900 ASXL1 c.4329_4330insT p.L1444fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1737945 TET2 c.3809_3810insC p.C1271fs*29 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1732211 BAP1 c.1946G>A p.C649Y Substitution - Missense Kidney COSM1744772 ZBTB33 c.474T>G p.D158E Substitution - Missense Biliary_tract COSM42037 TET2 c.4210C>T p.R1404* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM2834906 CHD9 c.5758C>T p.R1920C Substitution - Missense Large_intestine COSM2920056 CREBBP c.1123G>T p.G375* Substitution - Nonsense Oesophagus COSM3013881 PRDM9 c.2524C>T p.R842C Substitution - Missense Breast COSM3048307 SP140 c.271G>A p.V91M Substitution - Missense Large_intestine COSM3309715 SMARCB1 c.602G>A p.R201Q Substitution - Missense Ovary COSM3384384 HDAC7 c.1786C>T p.R596C Substitution - Missense Pancreas COSM3371815 PRDM15 c.2773G>A p.G925S Substitution - Missense Thyroid COSM3372673 SP140_ENST00000392045 c.912T>A p.T304T Substitution - coding silent Thyroid COSM3409221 WHSC1 c.2196A>G p.V732V Substitution - coding silent Central_nervous_system COSM3411835 KMT2C c.2470G>C p.G824R Substitution - Missense Central_nervous_system COSM3495050 PRMT5 c.1365C>T p.H455H Substitution - coding silent Skin COSM3523243 CBX4 c.127G>T p.E43* Substitution - Nonsense Skin COSM3657073 KIAA1045 c.952C>A p.R318R Substitution - coding silent Skin COSM3741867 GTF3C1 c.4336T>A p.S1446T Substitution - Missense Liver COSM3756157 CXXC1 c.264G>A p.K88K Substitution - coding silent Large_intestine COSM3751838 ERCC6 c.528A>G p.R176R Substitution - coding silent Large_intestine COSM3801842 TDRKH c.1474G>A p.A492T Substitution - Missense Breast COSM3832356 KMT2C c.5509A>C p.T1837P Substitution - Missense Breast COSM3888414 SRCAP c.7112C>T p.S2371F Substitution - Missense Skin COSM3976619 TDRD5 c.248C>T p.S83F Substitution - Missense Lung COSM4005544 SETMAR c.751G>C p.D251H Substitution - Missense Urinary_tract COSM4053393 SETD3 c.1361A>C p.N454T Substitution - Missense Stomach COSM3999533 TP53BP1 c.177+7G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4090678 IDH1 c.484A>G p.T162A Substitution - Missense Stomach COSM4119378 ACTR8 c.447T>C p.D149D Substitution - coding silent Stomach COSM4064335 RAI1 c.1837G>T p.G613W Substitution - Missense Stomach COSM4129610 NCOR1 c.528C>T p.L176L Substitution - coding silent Thyroid COSM4145728 PHF21A c.975C>A p.S325R Substitution - Missense Upper_aerodigestive_tract COSM4158211 BAP1 c.717C>T p.I239I Substitution - coding silent Thyroid COSM4163724 TAF1L c.1290G>T p.E430D Substitution - Missense Thyroid COSM4385691 ASXL1 c.1926_1927insA p.G643fs*15 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4381931 KMT2C c.943G>T p.G315C Substitution - Missense Central_nervous_system COSM4412774 SETBP1 c.1873C>T p.R625* Substitution - Nonsense Oesophagus COSM4595395 AP001011.3_ENST00000320876 c.46A>G p.T16A Substitution - Missense Upper_aerodigestive_tract COSM4505586 KMT2C c.6973C>T p.Q2325* Substitution - Nonsense Skin COSM4531809 GTF3C1 c.1828G>A p.E610K Substitution - Missense Skin COSM4489665 PHC1 c.350C>T p.S117F Substitution - Missense Skin COSM4717475 PRDM14 c.823G>A p.A275T Substitution - Missense Stomach COSM4679199 DOT1L c.2042G>A p.R681H Substitution - Missense Large_intestine COSM4765535 KDM5A c.3598_3599insA p.G1200fs*7 Insertion - Frameshift Stomach COSM4728607 SMYD1 c.1345C>T p.R449C Substitution - Missense Large_intestine COSM4665211 BAZ1B c.1694G>T p.R565L Substitution - Missense Large_intestine COSM4712697 PCGF6 c.614-3_614-2insT p.? Unknown Large_intestine COSM4663265 ARID2 c.479A>G p.K160R Substitution - Missense Large_intestine COSM4622639 KMT2D c.6100C>A p.L2034M Substitution - Missense Large_intestine COSM4614954 SIRT5 c.836delC p.P280fs*>31 Deletion - Frameshift Large_intestine COSM4615057 KIAA2026_ENST00000399933 c.1238_1239insT p.L413fs*19 Insertion - Frameshift Large_intestine COSM4793161 SETD8 c.724G>A p.V242M Substitution - Missense Liver COSM4884865 PRDM12 c.281C>T p.S94F Substitution - Missense Upper_aerodigestive_tract COSM4944390 SETMAR c.1386T>G p.H462Q Substitution - Missense Liver COSM4944410 CHD7 c.2820G>T p.P940P Substitution - coding silent Liver COSM4998205 HDAC9 c.771C>A p.F257L Substitution - Missense Pancreas COSM4984989 HNF1A c.1460G>A p.S487N Substitution - Missense Liver COSM4985403 KDM4D c.1497C>A p.D499E Substitution - Missense Soft_tissue COSM5086493 PHF16 c.92_93insA p.I33fs*4 Insertion - Frameshift Large_intestine COSM5347341 TDRD1 c.203delT p.L68fs*29 Deletion - Frameshift Liver COSM5490610 APOBEC1 c.496C>T p.H166Y Substitution - Missense Biliary_tract COSM5494421 HDAC2 c.44A>G p.Y15C Substitution - Missense Biliary_tract COSM5494119 DIDO1 c.6361C>T p.R2121* Substitution - Nonsense Biliary_tract COSM5438347 ATF7IP c.1043A>T p.N348I Substitution - Missense Oesophagus COSM5457856 DNMT3L c.1037T>A p.L346Q Substitution - Missense Large_intestine COSM5576310 ARID1A c.3594delA p.F1199fs*7 Deletion - Frameshift Stomach COSM5627497 DNMT1 c.3154G>C p.D1052H Substitution - Missense Oesophagus COSM5654915 EP400 c.3783C>T p.H1261H Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5655374 MEAF6 c.265T>G p.F89V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5720727 PRDM13 c.391G>A p.E131K Substitution - Missense Skin COSM5716146 TDRD10 c.24C>T p.P8P Substitution - coding silent Skin COSM5596872 ING1 c.618C>T p.D206D Substitution - coding silent Skin COSM5675733 PRMT2 c.1008G>T p.L336L Substitution - coding silent Soft_tissue COSM5682932 PRDM2 c.874G>T p.E292* Substitution - Nonsense Soft_tissue COSM5708608 TBL1XR1 c.205-2A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5569924 SMARCA2 c.1223C>T p.T408M Substitution - Missense Prostate COSM5879939 KDM6A c.3312_3313TA>AGGCCCC p.K1105fs*17 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM5820812 BAZ2A_ENST00000379441 c.232A>T p.S78C Substitution - Missense Liver COSM5887278 WHSC1 c.3536A>C p.Y1179S Substitution - Missense Skin COSM5893939 PHF23 c.481C>T p.P161S Substitution - Missense Skin COSM5985513 TET2 c.925_926insA p.A309fs*22 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4169711 KDM5C c.? p.V833fs*21 Unknown Adrenal_gland COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM42035 TET2 c.5719_5720insGAGCA p.M1907fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3676544 AICDA c.445A>G p.N149D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM21481 HNF1A c.872_873insC p.G292fs*25 Insertion - Frameshift Liver COSM1716167 TET2 c.3863G>T p.G1288V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM674522 PRMT6 c.569G>A p.R190Q Substitution - Missense Lung COSM1301115 MGA c.4333C>T p.H1445Y Substitution - Missense Urinary_tract COSM4789901 SMCHD1 c.3841G>A p.D1281N Substitution - Missense Liver COSM5923218 MBTD1 c.572-8C>T p.? Unknown Skin COSM176558 NIPBL c.134G>A p.R45Q Substitution - Missense Large_intestine COSM340255 HDAC2 c.193A>G p.M65V Substitution - Missense Lung COSM1178233 KMT2A c.8969C>A p.T2990N Substitution - Missense Prostate COSM5661858 MORF4L1 c.25C>T p.P9S Substitution - Missense Soft_tissue COSM1017590 SP110 c.507C>T p.I169I Substitution - coding silent Endometrium COSM52910 PBRM1 c.3386delA p.K1129fs*30 Deletion - Frameshift Kidney COSM3853745 DUSP1 c.1061T>C p.L354P Substitution - Missense Stomach COSM5023213 L3MBTL3 c.1900G>A p.D634N Substitution - Missense Bone COSM3830928 PHF3 c.5568A>C p.P1856P Substitution - coding silent Breast COSM266403 DNMT1 c.1294G>A p.E432K Substitution - Missense Large_intestine COSM3545315 DNMT3B c.2280G>A p.L760L Substitution - coding silent Skin COSM1485522 BRPF1 c.1261A>G p.M421V Substitution - Missense Breast COSM462332 MSL3 c.1383G>T p.V461V Substitution - coding silent Cervix COSM1636914 BPTF c.5953C>G p.H1985D Substitution - Missense Bone COSM5786022 DPF2 c.1015G>A p.D339N Substitution - Missense Breast COSM4777523 KDM5C c.3997T>G p.S1333A Substitution - Missense Breast COSM5920847 MGA c.6782C>T p.S2261L Substitution - Missense Skin COSM3829524 ARID1B c.5962G>T p.A1988S Substitution - Missense Breast COSM211643 TET2 c.3782G>A p.R1261H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM221164 KMT2D c.2824delG p.D942fs*115 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3874616 CDYL c.460G>A p.V154M Substitution - Missense Stomach COSM257721 PHF8 c.632G>A p.R211Q Substitution - Missense Large_intestine COSM3457168 KDM2B c.2300C>T p.S767F Substitution - Missense Skin COSM4221140 POGZ c.1229C>T p.S410F Substitution - Missense Skin COSM3186017 MSH6 c.2732G>A p.R911Q Substitution - Missense Large_intestine COSM1674452 TAF1L c.1597C>T p.P533S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4769914 PHF20 c.2832C>T p.T944T Substitution - coding silent Biliary_tract COSM366449 TBL1XR1 c.168T>A p.G56G Substitution - coding silent Lung COSM5664990 BAHCC1 c.907G>T p.A303S Substitution - Missense Soft_tissue COSM3963571 CHD6 c.1994A>G p.E665G Substitution - Missense Lung COSM1457726 CHD7 c.4623T>C p.D1541D Substitution - coding silent Large_intestine COSM4041499 PRMT8 c.1008G>A p.K336K Substitution - coding silent Stomach COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3804821 ARID1A c.4878A>C p.A1626A Substitution - coding silent Breast COSM3755969 KDM6B c.2172G>A p.P724P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4997156 ATRX c.3280T>C p.C1094R Substitution - Missense Upper_aerodigestive_tract COSM1179107 KMT2C c.851G>A p.R284Q Substitution - Missense Large_intestine COSM5894590 BAHD1 c.304C>T p.P102S Substitution - Missense Skin COSM3749667 MSH6 c.116G>A p.G39E Substitution - Missense Large_intestine COSM1722309 MYST3 c.5079A>C p.P1693P Substitution - coding silent Central_nervous_system COSM5037862 MBD3 c.332C>T p.P111L Substitution - Missense Skin COSM5635302 BTAF1 c.3207A>G p.K1069K Substitution - coding silent Oesophagus COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Skin COSM242255 WHSC1 c.3255G>C p.K1085N Substitution - Missense Prostate COSM3296140 MBD5 c.1587A>G p.I529M Substitution - Missense Upper_aerodigestive_tract COSM77464 CHD8 c.2873G>A p.C958Y Substitution - Missense Ovary COSM3450140 GLYATL1 c.542G>A p.G181E Substitution - Missense Skin COSM1738321 RAI1 c.825C>G p.S275R Substitution - Missense Ovary COSM3912234 AIRE c.307G>A p.D103N Substitution - Missense Skin COSM6012839 MLL5 c.2596+4G>A p.? Unknown Skin COSM1205908 EZH2 c.1072C>T p.R358C Substitution - Missense Skin COSM225257 KMT2C c.2915G>A p.G972E Substitution - Missense Skin COSM1486626 NSD1 c.12C>T p.T4T Substitution - coding silent Breast COSM3792639 KMT2D c.6003C>A p.P2001P Substitution - coding silent Urinary_tract COSM3842115 PRMT2 c.457C>G p.L153V Substitution - Missense Breast COSM3508921 SRCAP c.7629C>T p.L2543L Substitution - coding silent Skin COSM1049758 TET2 c.3410-2A>C p.? Unknown Endometrium COSM5915553 L3MBTL3 c.1198C>T p.R400C Substitution - Missense Skin COSM5478069 EP400 c.5951+6G>A p.? Unknown Large_intestine COSM20712 TRRAP c.5786G>T p.R1929L Substitution - Missense Ovary COSM4005178 ATRX c.5725G>A p.E1909K Substitution - Missense Urinary_tract COSM3831528 MLL5 c.3321G>A p.L1107L Substitution - coding silent Breast COSM306873 KMT2D c.10846_10847CA>CCA p.Q3616fs Complex Central_nervous_system COSM361841 GTF3C1 c.2165G>T p.R722M Substitution - Missense Lung COSM923585 KMT2A c.6224G>A p.R2075H Substitution - Missense Endometrium COSM5055266 RAI1 c.785G>A p.R262Q Substitution - Missense Stomach COSM4488912 ING1 c.33C>T p.H11H Substitution - coding silent Skin COSM1291512 MSH6 c.4000C>T p.R1334W Substitution - Missense Large_intestine COSM5433756 PRDM10 c.2987C>G p.S996C Substitution - Missense Oesophagus COSM5606329 ASH1L c.155G>A p.R52Q Substitution - Missense Skin COSM3817097 CHD2 c.362G>A p.R121Q Substitution - Missense Breast COSM179790 SFMBT2 c.264G>A p.P88P Substitution - coding silent Large_intestine COSM4893409 SMYD5 c.448C>T p.H150Y Substitution - Missense Skin COSM3377478 SMEK1 c.1490C>T p.A497V Substitution - Missense Pancreas COSM3411768 EZH2 c.1544A>G p.K515R Substitution - Missense Central_nervous_system COSM4054578 MGA c.9181C>T p.P3061S Substitution - Missense Stomach COSM923571 KMT2A c.1219C>T p.R407* Substitution - Nonsense Skin COSM327116 TET2 c.3445A>G p.T1149A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384290 EZH2 c.817C>T p.Q273* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3774230 BAG6 c.1855T>C p.S619P Substitution - Missense Kidney COSM22624 MEN1 c.515A>T p.D172V Substitution - Missense Lung COSM4591406 DIDO1 c.4867G>A p.E1623K Substitution - Missense Upper_aerodigestive_tract COSM3734737 ARID1A c.? p.S1356fs*101 Frameshift Urinary_tract COSM30386 KDM5C c.661G>T p.E221* Substitution - Nonsense Kidney COSM5490655 KMT2D c.12700G>T p.G4234C Substitution - Missense Biliary_tract COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5653037 KDM4D c.677T>A p.L226Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3698326 HDAC9 c.1772G>A p.R591H Substitution - Missense Large_intestine COSM164536 SP140 c.208C>T p.R70C Substitution - Missense Upper_aerodigestive_tract COSM5509502 TP53BP1 c.933T>C p.N311N Substitution - coding silent Biliary_tract COSM1581661 SETD2 c.774G>A p.M258I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4099358 ADNP c.577G>T p.A193S Substitution - Missense Stomach COSM225762 DOT1L c.3772G>A p.D1258N Substitution - Missense Skin COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1742124 ATAD2B_ENST00000238789 c.4279C>T p.L1427F Substitution - Missense Urinary_tract COSM5385929 PHF12 c.2922C>T p.G974G Substitution - coding silent Skin COSM238858 ASH1L c.3157C>T p.R1053C Substitution - Missense Lung COSM4447817 BAHCC1 c.645C>T p.F215F Substitution - coding silent Skin COSM5699493 MSL3 c.190G>T p.D64Y Substitution - Missense Soft_tissue COSM1336706 TDRD5 c.193C>T p.R65C Substitution - Missense Skin COSM944335 PHC1 c.748G>T p.V250L Substitution - Missense Endometrium COSM3469197 SETDB2 c.2072G>A p.W691* Substitution - Nonsense Skin COSM1604854 PHRF1 c.3594G>T p.R1198S Substitution - Missense Liver COSM1063493 HDAC3 c.988G>A p.E330K Substitution - Missense Endometrium COSM4052634 ALKBH1 c.20C>T p.A7V Substitution - Missense Stomach COSM263956 TAF3 c.1131G>A p.P377P Substitution - coding silent Large_intestine COSM1466728 MECP2 c.1346delA p.K449fs*33 Deletion - Frameshift Large_intestine COSM4993318 PSIP1 c.868G>A p.G290S Substitution - Missense Skin COSM1103 SMARCB1 c.?_?del? p.?del Deletion - In frame Central_nervous_system COSM3656830 TAF1L c.5227G>A p.D1743N Substitution - Missense Skin COSM4163030 CHD7 c.1918G>A p.E640K Substitution - Missense Thyroid COSM4982435 TAF1 c.4330G>A p.E1444K Substitution - Missense Oesophagus COSM40442 KAT2B c.1387G>A p.D463N Substitution - Missense Central_nervous_system COSM4663287 ARID4A c.2288_2289delGA p.N765fs*1 Deletion - Frameshift Large_intestine COSM4395997 ASXL3 c.97G>A p.G33R Substitution - Missense Skin COSM364307 KDM4D c.473G>T p.G158V Substitution - Missense Lung COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1159571 CHD8 c.1570G>A p.A524T Substitution - Missense Pancreas COSM1674941 BRD3 c.1826C>T p.S609F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4920392 KMT2A c.8173G>A p.E2725K Substitution - Missense Liver COSM138410 FXR1 c.1322G>A p.R441H Substitution - Missense Large_intestine COSM4777752 ZMYND11 c.762_763insG p.P255fs*29 Insertion - Frameshift Prostate COSM3868529 KMT2A c.8783C>T p.P2928L Substitution - Missense Skin COSM1409850 KDM3A c.3896T>C p.V1299A Substitution - Missense Large_intestine COSM4606372 PHF6 c.?_?insG p.F263fs Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM240612 MBD4 c.745G>A p.G249R Substitution - Missense Prostate COSM2229125 EP400 c.4421C>T p.T1474M Substitution - Missense Stomach COSM260968 FMR1 c.413G>A p.R138Q Substitution - Missense Large_intestine COSM4060703 CREBBP c.4900G>A p.V1634M Substitution - Missense Stomach COSM1738052 TET2 c.? p.Q1009* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4504015 KMT2D c.5731C>T p.P1911S Substitution - Missense Skin COSM2910878 ING5 c.252G>A p.Q84Q Substitution - coding silent Large_intestine COSM5944616 KDM5A c.4124_4125insT p.D1376fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1626324 TRIM33 c.2074G>T p.G692C Substitution - Missense Liver COSM4833224 CHD8 c.4648G>C p.D1550H Substitution - Missense Cervix COSM2961658 MYST3 c.5572C>T p.R1858C Substitution - Missense Stomach COSM4951080 ARID1A c.4995_4996insA p.T1666fs*32 Insertion - Frameshift Liver COSM5367861 MGA c.7726_7727insA p.R2578fs*9 Insertion - Frameshift Large_intestine COSM241129 PHF20 c.1646_1651delAGAAAA p.K549_K550delKK Deletion - In frame Prostate COSM455705 PSIP1 c.399G>C p.V133V Substitution - coding silent Breast COSM4147934 MTA1 c.1593C>A p.R531R Substitution - coding silent Thyroid COSM1080052 CDYL c.1191C>T p.S397S Substitution - coding silent Endometrium COSM4708347 NSD1 c.2766G>A p.T922T Substitution - coding silent Large_intestine COSM4771421 PBRM1 c.529-1G>T p.? Unknown Kidney COSM4976474 BRD9 c.1127A>T p.E376V Substitution - Missense Oesophagus COSM4141285 KDM3A c.1976G>A p.R659Q Substitution - Missense Ovary COSM3874618 CDYL c.642C>T p.S214S Substitution - coding silent Stomach COSM486433 WHSC1L1 c.1418C>T p.A473V Substitution - Missense Kidney COSM240690 KMT2D c.4285C>T p.R1429* Substitution - Nonsense Prostate COSM96472 CREBBP c.2064delG p.A690fs*5 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1083 SMARCB1 c.?_?del? p.?del Deletion - In frame Soft_tissue COSM86979 IKZF1 c.41-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4452173 AKAP1 c.1634A>T p.N545I Substitution - Missense Skin COSM3492909 RERE c.1657C>T p.P553S Substitution - Missense Skin COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53146 TET2 c.? p.A1355P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3850188 PHF15 c.1984G>A p.G662R Substitution - Missense Stomach COSM477715 KDM3A c.2876A>G p.N959S Substitution - Missense Kidney COSM5983236 BRPF3 c.515G>A p.R172Q Substitution - Missense Upper_aerodigestive_tract COSM5562829 MTA1 c.2089C>T p.P697S Substitution - Missense Prostate COSM6008651 L3MBTL2 c.58G>A p.E20K Substitution - Missense Prostate COSM5613964 SMYD3 c.764G>T p.S255I Substitution - Missense Lung COSM4804927 ACTR6 c.567T>A p.S189S Substitution - coding silent Liver COSM5573755 YY1 c.489_490insTCG p.S167_G168insS Insertion - In frame Prostate COSM1667362 PHC2 c.1683G>T p.Q561H Substitution - Missense Large_intestine COSM1717192 BAHD1 c.1958G>T p.W653L Substitution - Missense Ovary COSM1732114 BAP1 c.2T>C p.M1T Substitution - Missense Kidney COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5749890 ZMYM4 c.1478G>T p.C493F Substitution - Missense Genital_tract COSM3748173 EP300 c.4041A>G p.G1347G Substitution - coding silent Central_nervous_system COSM5707873 ATF2 c.901G>T p.G301* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM455882 KIAA1045 c.760G>T p.A254S Substitution - Missense Breast COSM42016 TET2 c.4393C>T p.R1465* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5904632 CREBBP c.4424C>T p.P1475L Substitution - Missense Skin COSM740320 JARID2 c.2952+2T>A p.? Unknown Lung COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM150424 KMT2C c.5068A>C p.R1690R Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1580623 BTAF1 c.2434A>G p.T812A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4960570 KMT2C c.6046G>A p.V2016M Substitution - Missense Liver COSM908680 ZMYM4 c.2907G>A p.Q969Q Substitution - coding silent Endometrium COSM133728 DNMT3A c.767_770delCCAC p.P256fs*59 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5762960 TET2 c.3145delA p.K1049fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM51460 ARID1A c.6664_6665delCC p.P2222fs*2 Deletion - Frameshift Ovary COSM159181 ARID4A c.3763G>C p.E1255Q Substitution - Missense Breast COSM2834950 CHD9 c.8025C>A p.A2675A Substitution - coding silent Large_intestine COSM431527 BAZ2A_ENST00000379441 c.5366G>A p.R1789Q Substitution - Missense Stomach COSM1750838 SIRT6 c.367G>T p.G123C Substitution - Missense Urinary_tract COSM1287363 PRDM10 c.3034A>T p.S1012C Substitution - Missense Autonomic_ganglia COSM5878666 TET2 c.4034A>C p.Y1345S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1192753 CBX5 c.317delA p.K106fs*31 Deletion - Frameshift Pancreas COSM3548800 DIDO1 c.1910C>T p.A637V Substitution - Missense Skin COSM4060392 MYST1 c.554G>A p.G185E Substitution - Missense Stomach COSM983273 BPTF c.643C>A p.R215S Substitution - Missense Endometrium COSM979855 HDAC5 c.2639C>T p.A880V Substitution - Missense Endometrium COSM3780495 HDAC6 c.1256+9C>T p.? Unknown Pancreas COSM1167994 ARID2 c.2128C>T p.P710S Substitution - Missense Skin COSM3673635 SP110 c.2095C>T p.L699F Substitution - Missense Prostate COSM4682141 EYA4 c.1149T>C p.F383F Substitution - coding silent Large_intestine COSM1378075 GLYR1 c.1140delG p.R381fs*20 Deletion - Frameshift Large_intestine COSM927032 PRDM11 c.1475A>C p.K492T Substitution - Missense Endometrium COSM5136312 PHRF1 c.4238delC p.A1415fs*94 Deletion - Frameshift Large_intestine COSM5761323 BTAF1 c.978C>A p.S326R Substitution - Missense Pancreas COSM166851 TIF1 c.2626C>T p.R876C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1026883 CHD6 c.205G>A p.A69T Substitution - Missense Endometrium COSM1100870 CHD7 c.7145C>T p.T2382M Substitution - Missense Endometrium COSM3907568 KIAA2026_ENST00000399933 c.5706A>C p.Q1902H Substitution - Missense Stomach COSM3433180 KIAA2026_ENST00000399933 c.3564G>A p.S1188S Substitution - coding silent Large_intestine COSM4582114 AIRE c.328C>T p.R110W Substitution - Missense Bone COSM206276 KMT2C c.1966G>A p.V656I Substitution - Missense Prostate COSM1309355 PBRM1 c.3973G>A p.D1325N Substitution - Missense Upper_aerodigestive_tract COSM52947 IDH2 c.? p.R172? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28790 KDM6A c.2122G>T p.G708* Substitution - Nonsense Lung COSM3780932 EP400 c.7775-7T>G p.? Unknown Pancreas COSM475008 UHRF1 c.1748A>G p.K583R Substitution - Missense Kidney COSM149175 CHD6 c.7453A>G p.R2485G Substitution - Missense Stomach COSM1361140 KDM5A c.3601T>C p.S1201P Substitution - Missense Large_intestine COSM753853 PHF2 c.310G>C p.V104L Substitution - Missense Lung COSM41910 TET2 c.1154C>G p.S385* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4000327 CBX4 c.871T>C p.S291P Substitution - Missense Upper_aerodigestive_tract COSM4000327 CBX4 c.871T>C p.S291P Substitution - Missense Upper_aerodigestive_tract COSM1436886 PRDM9 c.1402T>C p.W468R Substitution - Missense Stomach COSM41649 TET2 c.4075C>T p.R1359C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3975486 PRDM9 c.1675C>T p.R559W Substitution - Missense Pancreas COSM5935141 L3MBTL3 c.1154C>T p.P385L Substitution - Missense Skin COSM4648984 EHMT2 c.2551G>T p.G851W Substitution - Missense Large_intestine COSM6017984 DIDO1 c.2931A>T p.T977T Substitution - coding silent Skin COSM146934 ERCC6 c.2751C>T p.G917G Substitution - coding silent Soft_tissue COSM3873175 DAXX c.181C>T p.L61L Substitution - coding silent Stomach COSM734374 GABRG1 c.730C>A p.R244R Substitution - coding silent Lung COSM5720356 CHD1 c.3610A>T p.I1204L Substitution - Missense Skin COSM4925726 KIAA2026_ENST00000399933 c.5733C>A p.L1911L Substitution - coding silent Liver COSM1246219 BRD8 c.2250-2A>T p.? Unknown Kidney COSM269612 MORF4L2 c.827A>G p.Y276C Substitution - Missense Large_intestine COSM1611471 DNMT1 c.3450_3451insG p.L1151fs*12 Insertion - Frameshift Liver COSM282693 MBD4 c.393T>C p.N131N Substitution - coding silent Large_intestine COSM1624846 SMARCA2 c.2350A>G p.T784A Substitution - Missense Liver COSM1416929 BRD1 c.2845G>A p.D949N Substitution - Missense Large_intestine COSM42002 TET2 c.694C>T p.Q232* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM2270835 MGA c.4281G>T p.E1427D Substitution - Missense Upper_aerodigestive_tract COSM5621868 SMARCA4 c.1312G>A p.A438T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1245446 ARID1A c.2750A>G p.N917S Substitution - Missense Stomach COSM4606035 KMT2C c.863G>T p.C288F Substitution - Missense Upper_aerodigestive_tract COSM1194466 HDAC9 c.102G>T p.M34I Substitution - Missense Lung COSM1211250 JARID2 c.1160G>A p.R387H Substitution - Missense Thyroid COSM954572 PRMT5 c.734T>C p.V245A Substitution - Missense Endometrium COSM2777469 KIAA2026_ENST00000399933 c.5695G>A p.V1899I Substitution - Missense Bone COSM5599941 KMT2D c.7252G>T p.E2418* Substitution - Nonsense Skin COSM3879600 KMT2C c.1846G>A p.E616K Substitution - Missense Stomach COSM3774506 MBD4 c.1737A>G p.L579L Substitution - coding silent Urinary_tract COSM4021114 TTF2 c.3313G>A p.V1105I Substitution - Missense Stomach COSM4154957 KDM6A c.620-5T>G p.? Unknown Kidney COSM940082 KMT2D c.2794G>A p.V932I Substitution - Missense Endometrium COSM3925556 EYA1 c.410C>T p.S137F Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1250073 DIDO1 c.5372G>C p.G1791A Substitution - Missense Oesophagus COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM971266 BRD7 c.830_831delAG p.E277fs*18 Deletion - Frameshift Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM1187900 TRDMT1 c.763G>T p.D255Y Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM53281 TET2 c.?ins? p.?fs*? Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5495286 ARID1B c.304G>A p.G102R Substitution - Missense Biliary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM999561 KDM4B c.590G>A p.S197N Substitution - Missense Endometrium COSM3033655 MECP2 c.1179C>T p.P393P Substitution - coding silent Large_intestine COSM254574 BTAF1 c.2255C>G p.P752R Substitution - Missense Urinary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1626109 TAF1 c.5408A>G p.Y1803C Substitution - Missense Liver COSM4876972 CHD3 c.5179G>T p.E1727* Substitution - Nonsense Prostate COSM1079894 TDRD6 c.2665C>A p.Q889K Substitution - Missense Endometrium COSM5031314 CHD2 c.1666G>A p.A556T Substitution - Missense Pancreas COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1586689 CHD4 c.2618A>G p.D873G Substitution - Missense Endometrium COSM1399863 EPC2 c.2131G>A p.A711T Substitution - Missense Large_intestine COSM4494609 CHD3 c.4192C>T p.P1398S Substitution - Missense Skin COSM731071 PBRM1 c.2965+1G>C p.? Unknown Lung COSM720956 HDAC4 c.3165G>A p.T1055T Substitution - coding silent Lung COSM3373310 SETD5_ENST00000402198 c.2787C>G p.S929R Substitution - Missense Thyroid COSM1017579 SP110 c.2122G>A p.G708S Substitution - Missense Endometrium COSM1184849 BPTF c.1627G>A p.G543S Substitution - Missense Large_intestine COSM1242892 STK31 c.668delA p.K225fs*35 Deletion - Frameshift Large_intestine COSM1473385 SMYD2 c.559G>A p.E187K Substitution - Missense Breast COSM4637832 TRIM28 c.1864G>A p.D622N Substitution - Missense Large_intestine COSM4583643 INO80B c.72_73insA p.H27fs*67 Insertion - Frameshift Bone COSM5991928 ACTR6 c.187-8delT p.? Unknown Prostate COSM3661806 NIPBL c.358+8T>G p.? Unknown Liver COSM4396892 ASXL1 c.3399C>T p.S1133S Substitution - coding silent Skin COSM3844242 SCML2 c.1031A>G p.D344G Substitution - Missense Breast COSM5807373 MTA2 c.174G>T p.L58L Substitution - coding silent Liver COSM4829515 L3MBTL2 c.1443C>T p.S481S Substitution - coding silent Cervix COSM902725 RBBP5 c.373G>A p.V125M Substitution - Missense Endometrium COSM3656843 TAF1L c.3598C>T p.R1200C Substitution - Missense Prostate COSM4411453 BAP1 c.1557delC p.S520fs*51 Deletion - Frameshift Kidney COSM6005632 EP300 c.5332G>T p.G1778W Substitution - Missense Prostate COSM5982028 CREBBP c.? p.M747V Substitution - Missense Pancreas COSM1169496 ATRX c.524G>T p.G175V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM925899 PRMT3 c.609G>A p.S203S Substitution - coding silent Endometrium COSM1664720 TRRAP c.6190G>A p.D2064N Substitution - Missense Kidney COSM4719629 PYGO2 c.1126G>A p.V376I Substitution - Missense Large_intestine COSM272175 PRDM12 c.472C>T p.R158W Substitution - Missense Large_intestine COSM1496152 CHD1 c.2776G>A p.A926T Substitution - Missense Kidney COSM1184855 BPTF c.2966C>G p.S989* Substitution - Nonsense Large_intestine COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM84890 PRDM9 c.1602T>G p.S534R Substitution - Missense Pancreas COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85807 DAXX c.389T>G p.L130R Substitution - Missense Pancreas COSM99738 KDM6A c.808A>G p.I270V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96485 TET2 c.651_651delC p.V218fs*32 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM112021 ZBTB4 c.11_12insC p.A5fs*18 Insertion - Frameshift Large_intestine COSM110705 ASXL1 c.3828_3828delT p.P1277fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM116591 KDM5C c.67G>C p.E23Q Substitution - Missense Ovary COSM126320 SMARCC2 c.2098T>C p.F700L Substitution - Missense Upper_aerodigestive_tract COSM133737 DNMT3A c.2207G>A p.R736H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM133716 DNMT3A c.2606_2606delG p.G869fs*12 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM140258 ASXL1 c.2258C>T p.P753L Substitution - Missense Skin COSM220976 CREBBP c.1307C>T p.A436V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM146944 JMJD1C c.890C>G p.T297S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM199157 TRRAP c.7256C>T p.A2419V Substitution - Missense Large_intestine COSM244058 DMAP1 c.277C>T p.R93W Substitution - Missense Prostate COSM249224 TIF1 c.2965A>C p.K989Q Substitution - Missense Kidney COSM238942 BAP1 c.934G>T p.G312C Substitution - Missense Prostate COSM254608 CHD6 c.4126G>T p.A1376S Substitution - Missense Urinary_tract COSM270772 KMT2C c.13561G>A p.V4521I Substitution - Missense Large_intestine COSM262034 KMT2A c.10127G>A p.G3376D Substitution - Missense Large_intestine COSM258693 ATAD2B_ENST00000238789 c.4192C>T p.R1398C Substitution - Missense Large_intestine COSM287292 GLYR1 c.1140_1141insG p.R381fs*15 Insertion - Frameshift Large_intestine COSM298373 PHF2 c.281G>A p.R94Q Substitution - Missense Large_intestine COSM366729 PHF2 c.141A>T p.I47I Substitution - coding silent Lung COSM372322 NCOA2 c.3491G>T p.S1164I Substitution - Missense Lung COSM396944 CREBBP c.2499C>G p.L833L Substitution - coding silent Lung COSM405320 BAP1 c.430delC p.H144fs*43 Deletion - Frameshift Kidney COSM437716 CHD3 c.2095_2097delAAG p.K703delK Deletion - In frame Skin COSM452714 KMT2C c.4456G>T p.E1486* Substitution - Nonsense Breast COSM462001 NSD1 c.5036C>G p.S1679* Substitution - Nonsense Cervix COSM985521 CHD3 c.5014T>G p.L1672V Substitution - Missense Endometrium COSM988830 MBD1 c.1123C>T p.R375C Substitution - Missense Large_intestine COSM692230 EP400 c.2081C>T p.A694V Substitution - Missense Lung COSM1051863 PRMT10 c.253G>T p.D85Y Substitution - Missense Endometrium COSM1027971 ADNP c.1594C>T p.R532W Substitution - Missense Endometrium COSM939498 ARID2 c.1344T>C p.C448C Substitution - coding silent Endometrium COSM745376 JHDM1D c.2434G>C p.D812H Substitution - Missense Lung COSM711534 SIRT2 c.125G>C p.R42P Substitution - Missense Lung COSM1034756 TCF20 c.5104C>T p.H1702Y Substitution - Missense Endometrium COSM969488 CCDC101 c.634C>A p.P212T Substitution - Missense Endometrium COSM1061359 KDM3B c.4253C>T p.S1418L Substitution - Missense Endometrium COSM1235372 ARID1A c.4124G>C p.G1375A Substitution - Missense Breast COSM1209379 HDAC4 c.1654G>A p.A552T Substitution - Missense Large_intestine COSM1183559 ARID1B c.1528G>A p.G510R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1262123 PHRF1 c.811C>T p.R271W Substitution - Missense Stomach COSM1216530 KAT6B c.1723A>G p.T575A Substitution - Missense Large_intestine COSM1225365 SETD3 c.282G>T p.E94D Substitution - Missense Large_intestine COSM1186265 SETD2 c.4539G>T p.W1513C Substitution - Missense Lung COSM1604171 KMT2A c.9182A>G p.N3061S Substitution - Missense Liver COSM1303239 BPTF c.2378C>T p.S793L Substitution - Missense Cervix COSM1319510 PHF6 c.415G>T p.E139* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1334030 TDRKH c.777C>T p.G259G Substitution - coding silent Large_intestine COSM1445550 PHF3 c.1653A>C p.Q551H Substitution - Missense Large_intestine COSM1348900 SFMBT2 c.1288G>A p.V430I Substitution - Missense Large_intestine COSM1607322 YY1 c.206_207insCCA p.H80_P81insH Insertion - In frame Upper_aerodigestive_tract COSM1476062 HCFC2 c.190G>C p.V64L Substitution - Missense Breast COSM1476828 CHD4 c.4933G>T p.E1645* Substitution - Nonsense Breast COSM1487090 PRDM1 c.1742A>G p.H581R Substitution - Missense Breast COSM1579291 BAZ1A c.1591C>G p.P531A Substitution - Missense Fallopian_tube COSM1684632 ZGPAT c.1199delG p.G400fs*31 Deletion - Frameshift Large_intestine COSM1679020 SRCAP c.6329G>A p.R2110H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1679841 EZH1 c.599G>A p.G200E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1721253 KDM6B c.3546delC p.P1184fs*31 Deletion - Frameshift Skin COSM1713785 DIDO1 c.2914C>T p.P972S Substitution - Missense Skin COSM1716568 BAP1 c.581-?_659+?del p.? Unknown Pleura COSM1665923 HDAC10 c.1082-1G>T p.? Unknown Kidney COSM1727802 SMARCD1 c.611A>G p.E204G Substitution - Missense Liver COSM1756911 CHD2 c.4459G>A p.D1487N Substitution - Missense Urinary_tract COSM1755318 ACTB c.434C>T p.S145F Substitution - Missense Urinary_tract COSM1756033 BRD3 c.1186G>A p.E396K Substitution - Missense Urinary_tract COSM1756576 KDM6A c.3685C>T p.Q1229* Substitution - Nonsense Urinary_tract COSM1737872 SMARCA4 c.3760G>T p.E1254* Substitution - Nonsense Ovary COSM1735406 BAHCC1 c.5545G>A p.D1849N Substitution - Missense Pancreas COSM2068809 HDAC7 c.552delC p.S185fs*138 Deletion - Frameshift Large_intestine COSM2150785 SETBP1 c.1630C>T p.R544* Substitution - Nonsense Central_nervous_system COSM3097102 ATRX c.2556T>A p.D852E Substitution - Missense Large_intestine COSM3069717 DHX30 c.1690C>T p.R564W Substitution - Missense Bone COSM3362156 EZH1 c.1878C>T p.G626G Substitution - coding silent Kidney COSM3364300 MBD5 c.1328T>C p.V443A Substitution - Missense Kidney COSM3390263 TCF20 c.4630A>G p.I1544V Substitution - Missense Pancreas COSM3370730 KAT2A c.1513G>A p.G505S Substitution - Missense Thyroid COSM3418025 SETDB1 c.2410C>T p.R804W Substitution - Missense Large_intestine COSM3465558 APOBEC1 c.231C>T p.H77H Substitution - coding silent Skin COSM3637567 STK31 c.2950G>A p.E984K Substitution - Missense Skin COSM3561974 HDAC6 c.379C>T p.R127C Substitution - Missense Skin COSM3546372 CHD6 c.2159C>T p.S720F Substitution - Missense Skin COSM3523260 CHD3 c.2484G>T p.E828D Substitution - Missense Skin COSM3662120 NCOA7 c.1736A>C p.D579A Substitution - Missense Liver COSM3668351 SUV420H2 c.1065C>A p.S355S Substitution - coding silent Liver COSM3703042 PHF3 c.6029G>C p.R2010P Substitution - Missense Liver COSM3704553 ZMYM2 c.295A>G p.I99V Substitution - Missense Liver COSM3708071 PRDM15 c.3109G>A p.A1037T Substitution - Missense Liver COSM3763348 MYST3 c.2982G>A p.P994P Substitution - coding silent Soft_tissue COSM3767005 PHF8 c.1720T>A p.S574T Substitution - Missense Liver COSM3798861 NCOA1 c.2269G>T p.E757* Substitution - Nonsense Urinary_tract COSM3855013 NIPBL c.2550T>C p.S850S Substitution - coding silent Stomach COSM3839611 MSH6 c.1587T>G p.G529G Substitution - coding silent Breast COSM3913644 MECP2 c.965C>T p.P322L Substitution - Missense Skin COSM3909799 SP110 c.1985G>A p.R662Q Substitution - Missense Skin COSM3951013 TRRAP c.420C>T p.H140H Substitution - coding silent Lung COSM3974603 SETD5_ENST00000402198 c.251C>A p.S84Y Substitution - Missense Central_nervous_system COSM3954476 ATF7IP c.1158A>G p.I386M Substitution - Missense Lung COSM4099053 EYA2 c.513G>T p.Q171H Substitution - Missense Stomach COSM4092800 HDAC4 c.110C>T p.A37V Substitution - Missense Stomach COSM4097809 NCOA6 c.2042A>G p.K681R Substitution - Missense Stomach COSM4096116 KDM3A c.319C>T p.R107* Substitution - Nonsense Stomach COSM4116755 ZCWPW2 c.618C>T p.S206S Substitution - coding silent Stomach COSM4055772 PYGO1 c.472A>G p.N158D Substitution - Missense Stomach COSM4146395 TRIM66 c.1394C>A p.P465H Substitution - Missense Thyroid COSM4169968 EP300 c.95-1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4383877 TET2 c.2810delA p.H937fs*16 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4385265 EP300 c.6796_6798delCAG p.Q2268delQ Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM4575399 ARID2 c.121G>C p.G41R Substitution - Missense Bone COSM4492881 NCOR1 c.4009C>T p.P1337S Substitution - Missense Skin COSM4514820 INTS12 c.989C>T p.P330L Substitution - Missense Skin COSM4464225 ZCWPW1 c.1320C>T p.D440D Substitution - coding silent Skin COSM4478883 MBD6 c.2275C>T p.P759S Substitution - Missense Skin COSM4725204 SETDB1 c.2698G>T p.E900* Substitution - Nonsense Large_intestine COSM4742950 ZMYND11 c.157-1G>T p.? Unknown Large_intestine COSM4642082 RAI1 c.943G>A p.G315R Substitution - Missense Large_intestine COSM4654558 KDM6A c.2814A>T p.P938P Substitution - coding silent Large_intestine COSM4766169 TET2 c.3500G>A p.R1167K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4799182 PRDM11 c.1298C>T p.A433V Substitution - Missense Liver COSM4896210 CHD3 c.728C>T p.P243L Substitution - Missense Skin COSM4921899 ATAD2 c.738A>G p.E246E Substitution - coding silent Liver COSM4926199 HDAC9 c.1460T>A p.M487K Substitution - Missense Liver COSM4933600 SMARCA2 c.209T>C p.M70T Substitution - Missense Liver COSM4942371 LMNB1 c.709G>T p.E237* Substitution - Nonsense Liver COSM4911148 CHD8 c.6935A>G p.E2312G Substitution - Missense Liver COSM4829498 ARID2 c.3926C>G p.S1309* Substitution - Nonsense Cervix COSM4879008 BRD4 c.1719G>A p.T573T Substitution - coding silent Prostate COSM4984989 HNF1A c.1460G>A p.S487N Substitution - Missense Soft_tissue COSM5004364 MSH6 c.3014G>A p.R1005Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4987165 KDM6B c.2032C>A p.L678M Substitution - Missense Soft_tissue COSM5005196 TP53BP1 c.1111C>T p.R371* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5036077 ASXL1 c.3859A>G p.T1287A Substitution - Missense Oesophagus COSM5030993 NCOR1 c.3647G>A p.S1216N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5075570 SETD2 c.3305A>G p.Y1102C Substitution - Missense Kidney COSM5094768 BRD7 c.1395_1405del11 p.D465fs*17 Deletion - Frameshift Thymus COSM5389220 DOT1L c.669C>T p.F223F Substitution - coding silent Skin COSM5487433 SUV420H1 c.974A>T p.E325V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5622546 KMT2A c.4914A>G p.K1638K Substitution - coding silent Oesophagus COSM5627935 PRDM1 c.2188G>C p.E730Q Substitution - Missense Oesophagus COSM5759206 BAG6 c.2441G>A p.R814Q Substitution - Missense Bone COSM5759408 MBTD1 c.1127A>C p.E376A Substitution - Missense Bone COSM5728547 TDRD6 c.5926G>A p.E1976K Substitution - Missense Skin COSM5716556 SMARCD2 c.528C>T p.L176L Substitution - coding silent Skin COSM5608140 CREBBP c.823C>T p.P275S Substitution - Missense Skin COSM5666835 MSL3 c.1279G>C p.E427Q Substitution - Missense Soft_tissue COSM5560118 SRCAP c.2682G>C p.L894F Substitution - Missense Prostate COSM5611429 BAP1 c.1052C>T p.T351I Substitution - Missense Pleura COSM5929437 PHC1 c.2809C>T p.P937S Substitution - Missense Skin COSM5966210 TRIM33 c.2128C>T p.P710S Substitution - Missense Adrenal_gland COSM5981953 ARID1A c.3977_3978insC p.Q1327fs*11 Insertion - Frameshift Stomach COSM5990324 EP400 c.3959A>C p.N1320T Substitution - Missense Liver COSM5980742 TP53BP1 c.730A>G p.K244E Substitution - Missense Upper_aerodigestive_tract COSM6001234 MTA1 c.810G>A p.S270S Substitution - coding silent Prostate COSM6016148 SRCAP c.7885G>A p.E2629K Substitution - Missense Skin COSM6007571 EHMT1 c.2797G>A p.D933N Substitution - Missense Prostate COSM5972410 ZBTB4 c.918C>T p.H306H Substitution - coding silent Upper_aerodigestive_tract COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1666645 SMARCA4 c.? p.F1059fs*23 Unknown Ovary COSM1716783 TET2 c.? p.L560fs*8 Frameshift Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM255109 MEN1 c.? p.Q64* Substitution - Nonsense Parathyroid COSM52014 TET2 c.? p.G773V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM256008 PHF6 c.1_1098del1098 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM144170 ARID1A c.1592C>T p.P531L Substitution - Missense Breast COSM5444731 PHC1 c.215C>A p.A72D Substitution - Missense Oesophagus COSM5729458 L3MBTL4 c.1073G>A p.G358E Substitution - Missense Skin COSM4674654 CREBBP c.2012C>T p.S671L Substitution - Missense Large_intestine COSM306879 KDM6A c.2776_2777TC>T p.S926fs Complex Central_nervous_system COSM3515537 PHF12 c.676C>T p.Q226* Substitution - Nonsense Skin COSM1416468 EP300 c.1759C>T p.L587F Substitution - Missense Large_intestine COSM3729906 MBD4 c.939delA p.E314fs*4 Deletion - Frameshift Large_intestine COSM1474263 MTF2 c.1635C>G p.L545L Substitution - coding silent Breast COSM3488877 ZMYM1 c.2623C>T p.L875F Substitution - Missense Skin COSM6012473 L3MBTL3 c.1967G>T p.G656V Substitution - Missense Skin COSM1333459 PRDM2 c.4270delA p.N1426fs*3 Deletion - Frameshift Large_intestine COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM3769584 RTF1 c.211C>T p.L71L Substitution - coding silent Pancreas COSM2221858 TRIM66 c.740G>T p.R247I Substitution - Missense Large_intestine COSM87011 DNMT3A c.2141C>G p.S714C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3733522 NCOR1 c.59A>C p.Y20S Substitution - Missense Thyroid COSM727028 EP300 c.4241A>G p.Y1414C Substitution - Missense Upper_aerodigestive_tract COSM5420113 MGA c.3888C>T p.D1296D Substitution - coding silent Pancreas COSM3379109 DIDO1 c.2067C>T p.S689S Substitution - coding silent Pancreas COSM1625748 RBBP7 c.842A>G p.N281S Substitution - Missense Liver COSM430521 HNF1A c.51C>G p.L17L Substitution - coding silent Liver COSM3991182 ATAD2B_ENST00000238789 c.1762G>T p.D588Y Substitution - Missense Kidney COSM5520764 NCOA3 c.1403A>T p.H468L Substitution - Missense Biliary_tract COSM3811942 KDM5A c.4437A>C p.P1479P Substitution - coding silent Breast COSM1618224 TET2 c.3554A>C p.K1185T Substitution - Missense Liver COSM3840724 ASXL1 c.1220A>G p.H407R Substitution - Missense Breast COSM5965578 PHF8 c.1818G>T p.V606V Substitution - coding silent Breast COSM5518162 ORC1 c.567C>T p.P189P Substitution - coding silent Biliary_tract COSM459203 CHD8 c.4438G>C p.E1480Q Substitution - Missense Cervix COSM484581 MLL5 c.1248+1G>A p.? Unknown Kidney COSM5481656 BAZ2B c.5049A>G p.P1683P Substitution - coding silent Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Biliary_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3388270 CHD3 c.559A>T p.T187S Substitution - Missense Pancreas COSM3710745 KDM5A c.3061G>T p.E1021* Substitution - Nonsense Upper_aerodigestive_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4808368 SP100 c.228G>T p.E76D Substitution - Missense Pancreas COSM1641661 MBD5 c.868G>T p.A290S Substitution - Missense Stomach COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1101453 EYA1 c.1008C>T p.F336F Substitution - coding silent Endometrium COSM1081847 PHIP c.4448G>A p.R1483Q Substitution - Missense Endometrium COSM5640948 TRRAP c.10140A>G p.Q3380Q Substitution - coding silent Oesophagus COSM1444905 TDRD6 c.4550delA p.M1520fs*1 Deletion - Frameshift Stomach COSM3954820 KMT2D c.15344C>G p.S5115* Substitution - Nonsense Lung COSM1067740 NIPBL c.8398G>A p.D2800N Substitution - Missense Endometrium COSM1118770 SCML2 c.140C>A p.A47D Substitution - Missense Endometrium COSM5225999 EP300 c.3502-1G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM926758 RAG2 c.589C>A p.L197I Substitution - Missense Endometrium COSM5890797 BAZ1A c.3666G>A p.M1222I Substitution - Missense Skin COSM5062910 CHRAC1 c.218C>G p.T73S Substitution - Missense Stomach COSM3522236 ZBTB4 c.502C>T p.R168C Substitution - Missense Skin COSM1361680 ARID2 c.649delT p.S218fs*74 Deletion - Frameshift Large_intestine COSM5693641 PRDM15 c.1147G>C p.V383L Substitution - Missense Soft_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4432343 SETBP1 c.3711C>T p.S1237S Substitution - coding silent Oesophagus COSM41292 IDH1 c.? p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM244870 HDAC5 c.1013T>A p.V338D Substitution - Missense Prostate COSM2738961 NCOR1 c.5764A>C p.R1922R Substitution - coding silent Upper_aerodigestive_tract COSM4647468 RSF1 c.1083C>T p.H361H Substitution - coding silent Large_intestine COSM43417 TET2 c.2746C>T p.Q916* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4386624 MUM1 c.782G>T p.R261M Substitution - Missense Large_intestine COSM4636544 BRWD3 c.243T>C p.P81P Substitution - coding silent Large_intestine COSM4104445 L3MBTL2 c.293C>T p.T98I Substitution - Missense Stomach COSM1218899 ORC1 c.1822C>T p.R608* Substitution - Nonsense Stomach COSM3968300 CBX5 c.479G>A p.C160Y Substitution - Missense Central_nervous_system COSM3792598 ARID2 c.3528T>C p.V1176V Substitution - coding silent Urinary_tract COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5944195 DNMT3A c.2418_2422delATCCA p.S807fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5889718 MBD5 c.2651C>T p.P884L Substitution - Missense Skin COSM702750 CCDC101 c.493C>T p.R165W Substitution - Missense Lung COSM100053 TET2 c.2656C>T p.Q886* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1026083 NCOA6 c.3090_3092delGCA p.Q1032delQ Deletion - In frame Large_intestine COSM1363345 MBD6 c.2074delC p.Q694fs*5 Deletion - Frameshift Large_intestine COSM1630066 NCOR1 c.515C>T p.S172L Substitution - Missense Upper_aerodigestive_tract COSM1299807 CHD4 c.1618G>A p.E540K Substitution - Missense Urinary_tract COSM1162010 MPHOSPH8 c.2458-2A>T p.? Unknown Kidney COSM5813814 HDAC2 c.433A>T p.K145* Substitution - Nonsense Liver COSM1688030 BRDT c.1129C>T p.P377S Substitution - Missense Skin COSM3372429 MBD5 c.2716T>C p.S906P Substitution - Missense Thyroid COSM4761975 JHDM1D c.1909C>A p.P637T Substitution - Missense Stomach COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM529194 TDRD10 c.853G>T p.G285* Substitution - Nonsense Liver COSM4383913 TET2 c.3708_3710delCCC p.I1236_P1237>M Complex - deletion inframe Haematopoietic_and_lymphoid_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM484587 MLL5 c.5433C>A p.F1811L Substitution - Missense Kidney COSM5034088 ARID4A c.2351A>C p.K784T Substitution - Missense Skin COSM5728500 MYST3 c.244C>T p.L82F Substitution - Missense Skin COSM314411 PRDM9 c.410C>T p.A137V Substitution - Missense Lung COSM1236233 CBX1 c.309G>T p.K103N Substitution - Missense Autonomic_ganglia COSM4100479 ZGPAT c.873G>C p.V291V Substitution - coding silent Stomach COSM4515736 HNF1A c.1280_1281CC>TT p.T427I Substitution - Missense Skin COSM5423400 MPHOSPH8 c.163G>C p.G55R Substitution - Missense Prostate COSM464453 PRDM16 c.2260G>T p.E754* Substitution - Nonsense Kidney COSM5879029 TET2 c.3986T>A p.L1329Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM332444 BRD8 c.534G>T p.R178R Substitution - coding silent Lung COSM961502 MGA c.2596C>T p.R866* Substitution - Nonsense Large_intestine COSM328014 ARID1A c.6746_6747ins? p.(2287)fs Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5357243 NCOA7 c.137A>G p.N46S Substitution - Missense Large_intestine COSM681080 PRDM16 c.3210C>G p.D1070E Substitution - Missense Lung COSM1019141 NCOA1 c.1853G>T p.R618I Substitution - Missense Endometrium COSM5471245 DIDO1 c.5977C>T p.R1993W Substitution - Missense Large_intestine COSM1685364 SETBP1 c.2612T>C p.I871T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5732055 KDM5C c.4423G>C p.E1475Q Substitution - Missense Pancreas COSM233095 PHC1 c.595C>T p.H199Y Substitution - Missense Skin COSM976127 RAI1 c.3792G>A p.E1264E Substitution - coding silent Endometrium COSM970534 CREBBP c.7192G>T p.G2398* Substitution - Nonsense Endometrium COSM1621138 ARID1B c.3504G>A p.S1168S Substitution - coding silent Liver COSM1640884 CHD3 c.2690G>T p.R897M Substitution - Missense Stomach COSM3746947 ZMYM6 c.2912A>C p.N971T Substitution - Missense Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4751218 PRMT5 c.1462A>G p.R488G Substitution - Missense Stomach COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM77084 ZMYM6 c.2309T>G p.I770S Substitution - Missense Ovary COSM1051851 PRMT10 c.2157T>G p.R719R Substitution - coding silent Endometrium COSM4186223 SETD8 c.464A>C p.Q155P Substitution - Missense Breast COSM3637556 STK31 c.2231C>T p.P744L Substitution - Missense Skin COSM1640995 MBD2 c.665_668delAACA p.K222fs*17 Deletion - Frameshift Biliary_tract COSM144889 KMT2D c.954+2T>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM936032 KDM2B c.2491C>T p.R831W Substitution - Missense Endometrium COSM5751868 EP300 c.3695C>AC p.S1232fs*6 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM4060703 CREBBP c.4900G>A p.V1634M Substitution - Missense Skin COSM3839028 ATAD2B_ENST00000238789 c.2712A>G p.R904R Substitution - coding silent Breast COSM1095774 ATAD2 c.467G>A p.R156Q Substitution - Missense Breast COSM3426176 SP140_ENST00000392045 c.1727G>T p.R576I Substitution - Missense Large_intestine COSM53209 ASXL1 c.2641_2642insA p.R881fs*13 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5971387 BAHD1 c.1357G>A p.G453R Substitution - Missense Upper_aerodigestive_tract COSM1058 SMARCB1 c.843G>A p.W281* Substitution - Nonsense Central_nervous_system COSM5745497 CBX6 c.248C>T p.A83V Substitution - Missense Pancreas COSM100061 TET2 c.3667_3667delG p.A1223fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3747935 AICDA c.431A>T p.Y144F Substitution - Missense Upper_aerodigestive_tract COSM383647 PHF8 c.376C>A p.L126M Substitution - Missense Lung COSM1386952 CBX8 c.657C>T p.S219S Substitution - coding silent Large_intestine COSM447197 TET2 c.4106C>T p.S1369L Substitution - Missense Breast COSM934221 HCFC2 c.392G>T p.S131I Substitution - Missense Endometrium COSM5985382 SRCAP c.1166G>A p.R389H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2753932 KDM4B c.485A>G p.E162G Substitution - Missense Bone COSM5009140 MYST3 c.2103G>A p.E701E Substitution - coding silent Large_intestine COSM5611074 TRRAP c.1295C>T p.S432F Substitution - Missense Skin COSM427630 ERCC6 c.4238A>G p.Q1413R Substitution - Missense Soft_tissue COSM4988063 KMT2D c.6895G>A p.G2299S Substitution - Missense Soft_tissue COSM3751620 MGMT c.533A>G p.K178R Substitution - Missense Large_intestine COSM990725 CARM1 c.346G>A p.D116N Substitution - Missense Endometrium COSM1067665 NIPBL c.2575G>C p.D859H Substitution - Missense Endometrium COSM3548805 DIDO1 c.1665C>T p.S555S Substitution - coding silent Skin COSM4884751 CHD8 c.2795C>G p.S932* Substitution - Nonsense Upper_aerodigestive_tract COSM3794148 MGA c.7223C>T p.S2408L Substitution - Missense Urinary_tract COSM1101447 EYA1 c.1603G>T p.E535* Substitution - Nonsense Endometrium COSM1067663 NIPBL c.2313A>G p.P771P Substitution - coding silent Endometrium COSM3879531 KMT2C c.10556C>T p.S3519L Substitution - Missense Stomach COSM4104701 PHF21B c.719C>T p.T240M Substitution - Missense Stomach COSM108209 MBD5 c.4467G>A p.R1489R Substitution - coding silent Skin COSM3932816 AP001011.3_ENST00000320876 c.2122G>A p.V708I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4829073 PHF1 c.1572G>T p.G524G Substitution - coding silent Cervix COSM3754332 TP53BP1 c.1234G>A p.G412S Substitution - Missense Soft_tissue COSM308681 MSH6 c.3253_3254insC p.F1088fs*5 Insertion - Frameshift Lung COSM1645336 PRDM16 c.1832C>T p.T611M Substitution - Missense Large_intestine COSM1623574 ATAD2 c.104G>A p.G35D Substitution - Missense Liver COSM4689744 HDGFL1 c.551C>T p.A184V Substitution - Missense Large_intestine COSM484899 TRIM24 c.2587G>T p.G863* Substitution - Nonsense Kidney COSM3861863 EHMT2 c.2855A>G p.Y952C Substitution - Missense Stomach COSM3372726 DNMT3A c.939G>A p.W313* Substitution - Nonsense Thyroid COSM4526027 CBX7 c.136G>A p.E46K Substitution - Missense Skin COSM1749574 MYST1 c.781C>T p.Q261* Substitution - Nonsense Urinary_tract COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5673868 SMARCA2 c.2184+1G>T p.? Unknown Soft_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4082479 TRIM28 c.2085G>T p.K695N Substitution - Missense Stomach COSM255855 CTCF c.1253A>G p.Q418R Substitution - Missense Central_nervous_system COSM5623749 RNF2 c.103G>T p.G35C Substitution - Missense Oesophagus COSM32243 ERCC6 c.3356A>T p.E1119V Substitution - Missense Breast COSM3458548 ATF7IP c.2522C>T p.P841L Substitution - Missense Skin COSM277639 TDRD6 c.5431T>C p.Y1811H Substitution - Missense Large_intestine COSM4412759 DOT1L c.440T>A p.M147K Substitution - Missense Oesophagus COSM2848377 GABRG1 c.984T>G p.S328S Substitution - coding silent Stomach COSM4571886 EZH1 c.56T>G p.V19G Substitution - Missense Skin COSM344898 TDRD5 c.2835G>T p.K945N Substitution - Missense Lung COSM4110128 SMC1A c.1211A>G p.Q404R Substitution - Missense Stomach COSM1344512 RERE c.3871G>T p.G1291C Substitution - Missense Large_intestine COSM1191149 MYST2 c.933delA p.R312fs*13 Deletion - Frameshift Lung COSM4671299 CDYL2 c.966C>T p.S322S Substitution - coding silent Large_intestine COSM246566 PHF3 c.2246T>G p.L749* Substitution - Nonsense Prostate COSM1443313 BAG6 c.103delG p.A35fs*3 Deletion - Frameshift Large_intestine COSM1475606 PHRF1 c.1272G>A p.A424A Substitution - coding silent Stomach COSM703024 CREBBP c.1810C>T p.L604L Substitution - coding silent Lung COSM4043666 BAZ2A_ENST00000379441 c.4130C>T p.T1377M Substitution - Missense Stomach COSM5721869 KDM5A c.2979C>T p.S993S Substitution - coding silent Skin COSM1581234 KMT2C c.10763C>T p.S3588L Substitution - Missense Central_nervous_system COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM3799902 BRWD1 c.5801C>T p.T1934M Substitution - Missense Urinary_tract COSM1233252 ZCWPW1 c.1553A>C p.K518T Substitution - Missense Large_intestine COSM4669581 CBX7 c.317C>T p.T106M Substitution - Missense Large_intestine COSM24598 SMARCB1 c.711delC p.I237fs*30 Deletion - Frameshift Central_nervous_system COSM3986579 TDG c.1160C>T p.S387L Substitution - Missense Kidney COSM171629 PHF3 c.2287G>T p.E763* Substitution - Nonsense Large_intestine COSM1180268 TET2 c.2914T>G p.S972A Substitution - Missense Prostate COSM52810 PBRM1 c.1850T>A p.L617* Substitution - Nonsense Kidney COSM4097591 DNMT3B c.102G>A p.S34S Substitution - coding silent Stomach COSM1117753 HCFC1 c.2060C>T p.T687M Substitution - Missense Endometrium COSM757648 TAF1 c.736G>T p.G246* Substitution - Nonsense Lung COSM5020984 EZH2 c.396T>C p.P132P Substitution - coding silent Soft_tissue COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Central_nervous_system COSM471640 SRCAP c.3849C>T p.T1283T Substitution - coding silent Kidney COSM4792077 MORF4L2 c.821G>A p.S274N Substitution - Missense Liver COSM4414089 ARID4A c.754A>C p.S252R Substitution - Missense Kidney COSM1264007 RERE c.72_73delGA p.D27fs*6 Deletion - Frameshift Stomach COSM355008 ARID2 c.4003G>T p.A1335S Substitution - Missense Lung COSM3841172 NCOA5 c.583G>A p.E195K Substitution - Missense Breast COSM1075362 ARID1B c.5634C>T p.P1878P Substitution - coding silent Endometrium COSM1569564 NCOA2 c.2945G>A p.R982Q Substitution - Missense Large_intestine COSM4831080 AP001011.3_ENST00000320876 c.2104G>A p.E702K Substitution - Missense Cervix COSM966694 CHD2 c.594G>A p.Q198Q Substitution - coding silent Endometrium COSM1189173 GLYR1 c.596C>A p.A199E Substitution - Missense Lung COSM3866027 PHF13 c.833G>A p.R278Q Substitution - Missense Skin COSM2808582 SMCHD1 c.1284C>A p.V428V Substitution - coding silent Bone COSM1713601 EYA2 c.1153C>T p.R385W Substitution - Missense Skin COSM4597929 CXXC1 c.1039C>T p.R347W Substitution - Missense Prostate COSM4546693 CHD3 c.3877G>C p.V1293L Substitution - Missense Skin COSM4422682 ZGPAT c.1395G>C p.K465N Substitution - Missense Kidney COSM1722724 SP140_ENST00000392045 c.2528G>A p.G843E Substitution - Missense Skin COSM4042137 HDAC7 c.297G>A p.A99A Substitution - coding silent Stomach COSM5673662 CHD6 c.939C>T p.F313F Substitution - coding silent Soft_tissue COSM1685383 TET2 c.?_?del? p.?fs*? Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM895010 PRDM2 c.1925C>T p.A642V Substitution - Missense Endometrium COSM4945009 WHSC1L1 c.838A>T p.T280S Substitution - Missense Liver COSM166529 DNMT3A c.1769delG p.G590fs*61 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3636529 KMT2C c.2417C>T p.S806F Substitution - Missense Skin COSM237015 ATAT1 c.436-4G>A p.? Unknown Prostate COSM4397573 EYA1 c.4G>A p.E2K Substitution - Missense Skin COSM4714006 PHF23 c.149delC p.P50fs*82 Deletion - Frameshift Large_intestine COSM1395305 PRMT1 c.243T>C p.F81F Substitution - coding silent Large_intestine COSM5720045 PBRM1 c.3588C>T p.F1196F Substitution - coding silent Skin COSM4027382 RBBP5 c.651G>A p.T217T Substitution - coding silent Stomach COSM740045 EYA4 c.63T>A p.V21V Substitution - coding silent Lung COSM5599941 KMT2D c.7252G>T p.E2418* Substitution - Nonsense Skin COSM5945936 ARID1A c.3605G>A p.R1202Q Substitution - Missense Skin COSM249564 KDM5C c.179_180delTG p.V60fs*14 Deletion - Frameshift Kidney COSM1637976 CDYL c.1639-2A>T p.? Unknown Bone COSM5957833 PRDM12 c.1040_1041insCGC p.A359_H360insA Insertion - In frame Thyroid COSM3356919 EZH1 c.1965C>T p.R655R Substitution - coding silent Biliary_tract COSM4145726 PHF21A c.1558A>G p.K520E Substitution - Missense Thyroid COSM1039192 ZBTB38 c.419A>G p.E140G Substitution - Missense Endometrium COSM5029405 BAZ1B c.3147G>C p.Q1049H Substitution - Missense Bone COSM478243 NCOA3 c.256+2T>C p.? Unknown Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM336881 PHF3 c.3950G>C p.G1317A Substitution - Missense Lung COSM1125426 ATRX c.4914T>C p.F1638F Substitution - coding silent Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5813029 ZMYM3 c.645C>G p.P215P Substitution - coding silent Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4187949 BAG6 c.3179C>A p.A1060D Substitution - Missense Kidney COSM1339250 LBR c.557A>C p.K186T Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3381498 ARID1B c.4674G>A p.P1558P Substitution - coding silent Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5553327 RNF17 c.1032A>G p.E344E Substitution - coding silent Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5123046 BAHCC1 c.5351A>C p.N1784T Substitution - Missense Large_intestine COSM4004130 PHIP c.2621C>T p.T874I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM307173 ZMYM3 c.702G>A p.P234P Substitution - coding silent Central_nervous_system COSM3919994 NIPBL c.3433C>T p.R1145C Substitution - Missense Skin COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM4119254 SFMBT1 c.981C>T p.A327A Substitution - coding silent Stomach COSM3474965 ASH1L c.4494C>T p.P1498P Substitution - coding silent Skin COSM96454 CREBBP c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM6008217 ZBTB4 c.2663G>A p.G888D Substitution - Missense Prostate COSM206250 KMT2C c.13577A>G p.Y4526C Substitution - Missense Prostate COSM146000 TDRD6 c.4557A>T p.K1519N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM255233 CTCF c.1837+4A>G p.? Unknown Central_nervous_system COSM5730218 TDRD7 c.3070delC p.A1025fs*3 Deletion - Frameshift Skin COSM422740 BAP1 c.510T>A p.F170L Substitution - Missense Kidney COSM919515 JMJD1C c.591C>A p.P197P Substitution - coding silent Endometrium COSM4854669 NIPBL c.149T>C p.V50A Substitution - Missense Cervix COSM30570 SMARCA4 c.2184_2206del23 p.Q729fs*4 Deletion - Frameshift Ovary COSM4543216 DNMT1 c.3289G>C p.E1097Q Substitution - Missense Skin COSM5018175 CLOCK c.2278_2280delCAG p.Q760delQ Deletion - In frame Soft_tissue COSM5041485 ARID2 c.1023+2T>G p.? Unknown Liver COSM110735 BAP1 c.1379C>G p.S460* Substitution - Nonsense Eye COSM120039 PRDM12 c.380T>G p.V127G Substitution - Missense Ovary COSM28394 ARID1A c.4238C>T p.A1413V Substitution - Missense Kidney COSM1713475 CHD6 c.7985G>A p.G2662E Substitution - Missense Liver COSM4593941 L3MBTL2 c.697G>C p.A233P Substitution - Missense Upper_aerodigestive_tract COSM422764 PBRM1 c.892C>T p.R298* Substitution - Nonsense Kidney COSM4010583 BRDT c.79C>T p.R27* Substitution - Nonsense Stomach COSM1745899 KAT6B c.159C>G p.L53L Substitution - coding silent Urinary_tract COSM4408661 VPS72 c.375C>T p.D125D Substitution - coding silent Oesophagus COSM2064411 TDG c.246delA p.K84fs*21 Deletion - Frameshift Large_intestine COSM4164139 PHF2 c.1795T>G p.S599A Substitution - Missense Thyroid COSM3665949 BTAF1 c.1688T>A p.M563K Substitution - Missense Liver COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1002 SMARCB1 c.118C>T p.R40* Substitution - Nonsense Skin COSM34039 IDH2 c.514A>T p.R172W Substitution - Missense Biliary_tract COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43428 TET2 c.238C>T p.Q80* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM43443 TET2 c.5060_5061delAG p.S1688fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41716 ASXL1 c.1888_1909del22 p.H630fs*66 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM50728 CHD7 c.3953G>A p.C1318Y Substitution - Missense Large_intestine COSM106795 DNMT3L c.714C>T p.F238F Substitution - coding silent Pancreas COSM146113 ZBTB38 c.1924C>T p.P642S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM164862 TET2 c.3718C>G p.L1240V Substitution - Missense Breast COSM216271 SMARCD1 c.1241A>G p.N414S Substitution - Missense Pancreas COSM223750 INOC1 c.707C>T p.S236F Substitution - Missense Skin COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Central_nervous_system COSM274391 CBX5 c.249G>A p.E83E Substitution - coding silent Large_intestine COSM292465 SMC1A c.1300C>T p.R434W Substitution - Missense Large_intestine COSM309267 ARID1B c.3285G>T p.L1095F Substitution - Missense Soft_tissue COSM339665 SETBP1 c.4182C>T p.S1394S Substitution - coding silent Lung COSM417942 CHD3 c.3563C>T p.A1188V Substitution - Missense Large_intestine COSM414948 KAT6B c.2453A>G p.Y818C Substitution - Missense Urinary_tract COSM426155 ZMYM4 c.871C>T p.Q291* Substitution - Nonsense Breast COSM465705 ERCC6 c.429T>G p.C143W Substitution - Missense Kidney COSM469785 CHD8 c.7713T>C p.A2571A Substitution - coding silent Kidney COSM988363 SETBP1 c.199C>A p.R67R Substitution - coding silent Endometrium COSM983287 BPTF c.1513G>A p.D505N Substitution - Missense Endometrium COSM2270987 EZH2 c.1660T>C p.C554R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM693678 KMT2D c.4232G>C p.S1411T Substitution - Missense Lung COSM688216 GLYATL1 c.279+1G>A p.? Unknown Lung COSM1017631 SP100 c.118G>T p.E40* Substitution - Nonsense Endometrium COSM920536 KAT6B c.5020G>A p.E1674K Substitution - Missense Endometrium COSM709525 SETBP1 c.2180G>T p.R727L Substitution - Missense Oesophagus COSM907759 ARID1A c.6704delC p.R2236fs*31 Deletion - Frameshift Endometrium COSM946193 RNF17 c.749C>T p.S250L Substitution - Missense Endometrium COSM1602270 ZMYM6 c.1003G>A p.A335T Substitution - Missense Liver COSM1073487 EYA4 c.996C>A p.P332P Substitution - coding silent Endometrium COSM969919 SRCAP c.967C>T p.L323L Substitution - coding silent Endometrium COSM1125414 ATRX c.5464G>A p.A1822T Substitution - Missense Endometrium COSM1114803 SMARCA1 c.1242G>T p.K414N Substitution - Missense Large_intestine COSM1132513 TAF1L c.3200C>T p.A1067V Substitution - Missense Prostate COSM1163731 ADNP c.3047delA p.K1016fs*11 Deletion - Frameshift Large_intestine COSM1184390 KMT2C c.8650C>T p.R2884* Substitution - Nonsense Breast COSM1259127 NIPBL c.5972-10_5972-9insT p.? Unknown Oesophagus COSM1178116 NCOA3 c.3938C>A p.P1313Q Substitution - Missense Prostate COSM1193063 MGA c.6229delA p.R2077fs*74 Deletion - Frameshift Lung COSM1189884 SMARCA4 c.2936G>T p.R979L Substitution - Missense Lung COSM1288329 TAF1L c.3363G>T p.K1121N Substitution - Missense Autonomic_ganglia COSM1307607 DIDO1 c.4862C>T p.S1621L Substitution - Missense Urinary_tract COSM1425054 ATXN7 c.614G>A p.R205H Substitution - Missense Large_intestine COSM1429843 GABRG1 c.117A>T p.A39A Substitution - coding silent Large_intestine COSM1424460 BAP1 c.1338C>T p.N446N Substitution - coding silent Large_intestine COSM1456875 ASH2L c.388G>T p.G130C Substitution - Missense Large_intestine COSM1488019 ACTL6B c.967G>C p.G323R Substitution - Missense Breast COSM1611194 ASXL3 c.323C>A p.A108E Substitution - Missense Liver COSM1611269 MBD1 c.529G>A p.G177R Substitution - Missense Liver COSM1619531 KDM3B c.3090_3091insTA p.C1031fs*51 Insertion - Frameshift Liver COSM1623989 WHSC1L1 c.977G>C p.R326P Substitution - Missense Liver COSM1638064 KDM6A c.2599A>T p.K867* Substitution - Nonsense Bone COSM1638223 SIRT4 c.531C>T p.P177P Substitution - coding silent Bone COSM1676668 CHD4 c.3250G>A p.D1084N Substitution - Missense Large_intestine COSM1716668 ATRX c.2809A>T p.R937* Substitution - Nonsense Central_nervous_system COSM1713786 DIDO1 c.1702C>T p.P568S Substitution - Missense Skin COSM1719245 KDM4D c.88G>A p.D30N Substitution - Missense Skin COSM1713964 SETD4 c.251_252CC>TT p.T84I Substitution - Missense Skin COSM1716512 EP300 c.4540G>A p.E1514K Substitution - Missense Oesophagus COSM1666099 PSIP1 c.172_173insA p.I58fs*8 Insertion - Frameshift Kidney COSM1731333 RAD54L c.1688C>A p.S563* Substitution - Nonsense Liver COSM2150552 PHF17 c.448T>A p.W150R Substitution - Missense Central_nervous_system COSM2151338 CLOCK c.12C>T p.T4T Substitution - coding silent Central_nervous_system COSM2740178 RAI1 c.982G>A p.V328I Substitution - Missense Large_intestine COSM2828729 SETD5_ENST00000402198 c.219T>C p.P73P Substitution - coding silent Upper_aerodigestive_tract COSM2966595 HDAC6 c.1561G>A p.G521R Substitution - Missense Large_intestine COSM3172762 L3MBTL3 c.426T>C p.N142N Substitution - coding silent Large_intestine COSM3253764 BAG6 c.431G>A p.G144D Substitution - Missense Large_intestine COSM3304725 KMT2C c.427delA p.S143fs*3 Deletion - Frameshift Skin COSM3353854 CDYL c.569C>T p.A190V Substitution - Missense Large_intestine COSM3413081 CHD7 c.7604G>A p.S2535N Substitution - Missense Central_nervous_system COSM3396084 BAZ2A c.4686G>T p.Q1562H Substitution - Missense Prostate COSM3487588 ARID1A c.5796C>T p.A1932A Substitution - coding silent Skin COSM3509569 CREBBP c.569A>T p.N190I Substitution - Missense Skin COSM3589883 MECOM c.1092G>A p.G364G Substitution - coding silent Skin COSM3608981 KDM3B c.2883C>T p.P961P Substitution - coding silent Skin COSM3554890 EP300 c.4099G>T p.D1367Y Substitution - Missense Skin COSM3519496 MBTD1 c.582G>A p.K194K Substitution - coding silent Skin COSM3693630 DIDO1 c.6101C>T p.P2034L Substitution - Missense Large_intestine COSM3735042 TET2 c.3064_3065delAA p.K1022fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3708940 MBD5 c.30G>T p.G10G Substitution - coding silent Liver COSM3709670 MSH6 c.1596T>C p.S532S Substitution - coding silent Liver COSM3734330 SETD1A c.4433G>A p.R1478H Substitution - Missense Pancreas COSM3751151 PHC2 c.1423G>A p.V475M Substitution - Missense Large_intestine COSM3869614 GLYATL1 c.912C>T p.S304S Substitution - coding silent Skin COSM3861857 EHMT2 c.3434G>A p.R1145Q Substitution - Missense Stomach COSM3931365 PHRF1 c.4750A>G p.R1584G Substitution - Missense Urinary_tract COSM3848646 UHRF2 c.1128A>C p.P376P Substitution - coding silent Breast COSM3819665 EZH1 c.79C>T p.R27* Substitution - Nonsense Breast COSM3827763 NSD1 c.6440T>G p.L2147R Substitution - Missense Breast COSM3840745 DNMT3B c.217G>A p.D73N Substitution - Missense Breast COSM3914219 HDAC8 c.712G>A p.E238K Substitution - Missense Skin COSM3879986 HDAC9 c.2484C>T p.N828N Substitution - coding silent Stomach COSM3964840 FMR1 c.853G>T p.V285L Substitution - Missense Lung COSM3970682 SMARCA4 c.272A>G p.N91S Substitution - Missense Central_nervous_system COSM4022057 SETDB1 c.743C>T p.A248V Substitution - Missense Stomach COSM4043684 BAZ2A_ENST00000379441 c.1572C>T p.D524D Substitution - coding silent Stomach COSM4109798 HDAC6 c.1183G>A p.V395I Substitution - Missense Stomach COSM4099360 ADNP c.66A>T p.I22I Substitution - coding silent Stomach COSM4072472 CXXC1 c.1276G>A p.G426S Substitution - Missense Stomach COSM4163511 WDR5 c.24C>T p.P8P Substitution - coding silent Thyroid COSM4188544 KDM5C c.2091delC p.F697fs*67 Deletion - Frameshift Kidney COSM4238620 KDM4A c.1508G>T p.G503V Substitution - Missense Large_intestine COSM4385691 ASXL1 c.1926_1927insA p.G643fs*15 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4584568 ACTR8 c.1433G>C p.G478A Substitution - Missense Bone COSM4487881 MYST3 c.3240C>T p.F1080F Substitution - coding silent Skin COSM4489897 BAP1 c.354C>T p.F118F Substitution - coding silent Skin COSM4456792 SETD7 c.1021C>T p.P341S Substitution - Missense Skin COSM4466764 KMT2C c.14515C>T p.L4839F Substitution - Missense Skin COSM4449551 UTY c.2674-1G>A p.? Unknown Skin COSM4472766 L3MBTL2 c.1803C>T p.L601L Substitution - coding silent Skin COSM4410937 BAP1 c.553G>A p.G185R Substitution - Missense Kidney COSM4411449 BAP1 c.829C>T p.Q277* Substitution - Nonsense Cervix COSM4666133 BRD9 c.644G>A p.R215Q Substitution - Missense Large_intestine COSM4666313 BTAF1 c.4367G>C p.G1456A Substitution - Missense Large_intestine COSM4694996 KDM5A c.2530C>T p.R844W Substitution - Missense Large_intestine COSM4689686 HDAC5 c.2208G>A p.T736T Substitution - coding silent Large_intestine COSM4775691 KDM5A c.2427-6C>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4754555 MSH6 c.3109T>C p.F1037L Substitution - Missense Stomach COSM4758806 BRDT c.1007A>C p.K336T Substitution - Missense Stomach COSM4795767 PHF16 c.1579G>A p.A527T Substitution - Missense Liver COSM4793000 UBR7 c.151G>T p.G51C Substitution - Missense Liver COSM4939641 KAT2B c.1150+2T>G p.? Unknown Liver COSM4836547 SMARCC2 c.3271C>A p.P1091T Substitution - Missense Cervix COSM4849931 JMJD1C c.1265C>T p.S422L Substitution - Missense Cervix COSM4990809 IDH2 c.148G>A p.V50M Substitution - Missense Kidney COSM5036493 ACTR5 c.776-2A>T p.? Unknown Oesophagus COSM5007377 CDYL2 c.281C>T p.S94L Substitution - Missense Large_intestine COSM5009366 TAF1 c.2594A>C p.K865T Substitution - Missense Large_intestine COSM5344165 PHF21B c.1085C>T p.A362V Substitution - Missense Large_intestine COSM5392933 PRDM15 c.2001delT p.P668fs*5 Deletion - Frameshift Skin COSM5365789 PHF20 c.808+6delT p.? Unknown Large_intestine COSM5380677 PRDM16 c.3091G>A p.E1031K Substitution - Missense Skin COSM5352418 HNF1A c.527-1_527ins62 p.Q176fs*11 Unknown Liver COSM5358313 TRRAP c.5683G>A p.A1895T Substitution - Missense Large_intestine COSM5449124 SETBP1 c.2358C>A p.S786S Substitution - coding silent Large_intestine COSM5452071 JARID2 c.3039A>T p.G1013G Substitution - coding silent Large_intestine COSM5424675 DNMT3A c.2636A>G p.N879S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5641119 PRMT1 c.422G>A p.G141D Substitution - Missense Oesophagus COSM5653657 TRRAP c.4218A>T p.E1406D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5717375 HDAC9 c.2485G>A p.G829S Substitution - Missense Skin COSM5719279 RAD54L c.160C>T p.P54S Substitution - Missense Skin COSM5578616 GABRG1 c.1325A>T p.Y442F Substitution - Missense Skin COSM5576859 NCOA3 c.830T>C p.V277A Substitution - Missense Skin COSM5579692 TAF3 c.366A>T p.E122D Substitution - Missense Skin COSM5592504 PHF21B c.1456C>T p.L486L Substitution - coding silent Skin COSM5570754 TDRD6 c.463G>A p.V155M Substitution - Missense Prostate COSM5552438 BAZ2B c.1950T>A p.D650E Substitution - Missense Prostate COSM5569557 GABRG1 c.740C>T p.T247I Substitution - Missense Prostate COSM5794824 EYA4 c.412T>C p.Y138H Substitution - Missense Breast COSM5807898 HDAC5 c.3027C>T p.T1009T Substitution - coding silent Liver COSM5944377 ASXL1 c.1888_1892delCACCA p.H630fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5898952 MYST3 c.4748C>T p.S1583F Substitution - Missense Skin COSM5899834 PRDM16 c.2282C>T p.A761V Substitution - Missense Skin COSM5980125 KAT5 c.9G>C p.E3D Substitution - Missense Upper_aerodigestive_tract COSM6008297 BPTF c.6889C>G p.P2297A Substitution - Missense Prostate COSM5991514 SMARCB1 c.614C>T p.T205I Substitution - Missense Skin COSM5975572 PRDM9 c.2368A>C p.N790H Substitution - Missense Upper_aerodigestive_tract COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM5881445 KDM5C c.? p.C1247* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52833 PBRM1 c.715-2A>G p.? Unknown Kidney COSM307764 TET2 c.? p.M1388I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM21481 HNF1A c.872_873insC p.G292fs*25 Insertion - Frameshift Liver COSM3963511 PHF20 c.1653C>T p.T551T Substitution - coding silent Lung COSM675677 LMNA c.216C>A p.R72R Substitution - coding silent Lung COSM4663704 ASH1L c.2300delC p.P767fs*4 Deletion - Frameshift Large_intestine COSM100066 TET2 c.2896_2897delCA p.Q966fs*5 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1123276 PHF8 c.941C>A p.P314H Substitution - Missense Endometrium COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM4703484 MTA1 c.1453C>A p.L485M Substitution - Missense Large_intestine COSM1694770 TET2 c.980C>T p.S327L Substitution - Missense Skin COSM3852233 HDAC3 c.178C>T p.R60C Substitution - Missense Stomach COSM3353152 TDRD6 c.5966C>T p.S1989L Substitution - Missense Large_intestine COSM727028 EP300 c.4241A>G p.Y1414C Substitution - Missense Oesophagus COSM1191139 CBX5 c.34_36delTCT p.S14delS Deletion - In frame Lung COSM1732116 PBRM1 c.3387+1G>A p.? Unknown Kidney COSM480412 PBRM1 c.1369G>T p.E457* Substitution - Nonsense Kidney COSM1045666 SMARCC1 c.1535G>A p.R512Q Substitution - Missense Endometrium COSM4995271 SETDB1 c.2011C>T p.Q671* Substitution - Nonsense Upper_aerodigestive_tract COSM3747399 SCML2 c.1890C>G p.T630T Substitution - coding silent Liver COSM5945711 TET2 c.1062_1062delA p.G355fs*17 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM361797 MGA c.8726G>T p.R2909L Substitution - Missense Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM255072 EP300 c.4239_4240insT p.Y1414fs*3 Insertion - Frameshift Urinary_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM4821995 MGMT c.517G>C p.G173R Substitution - Missense Cervix COSM4466772 EP300 c.1451C>T p.P484L Substitution - Missense Skin COSM4850712 PRDM15 c.2184C>G p.I728M Substitution - Missense Cervix COSM4414733 BRWD1 c.641C>A p.S214* Substitution - Nonsense Kidney COSM211729 TET2 c.4064C>T p.A1355V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1468558 SMC1A c.563G>A p.R188H Substitution - Missense Large_intestine COSM5486382 ATXN7 c.1492G>A p.D498N Substitution - Missense Large_intestine COSM1018644 HDAC4 c.657C>T p.S219S Substitution - coding silent Large_intestine COSM1189393 KDM6B c.275C>G p.S92C Substitution - Missense Lung COSM3798857 NCOA1 c.322G>C p.E108Q Substitution - Missense Urinary_tract COSM1246225 BRD8 c.2912G>T p.C971F Substitution - Missense Oesophagus COSM3154324 PRDM1 c.1448C>T p.A483V Substitution - Missense Large_intestine COSM1468558 SMC1A c.563G>A p.R188H Substitution - Missense Large_intestine COSM5944289 TET2 c.3893delG p.C1298fs*65 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85916 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3724761 PRMT8 c.866C>G p.S289W Substitution - Missense Lung COSM979598 EZH1 c.1964G>A p.R655H Substitution - Missense Stomach COSM3746744 RBBP5 c.633-5C>T p.? Unknown Liver COSM5600456 SETD5_ENST00000402198 c.974T>G p.V325G Substitution - Missense Skin COSM1560187 KDM1A c.1088C>A p.A363D Substitution - Missense Large_intestine COSM1716417 CTCF c.2164C>A p.L722I Substitution - Missense Endometrium COSM5951719 BPTF c.6587T>C p.L2196P Substitution - Missense Oesophagus COSM141164 PHF3 c.659C>A p.S220Y Substitution - Missense Upper_aerodigestive_tract COSM96362 BAP1 c.188C>G p.S63C Substitution - Missense Pleura COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM345567 MINA c.1365C>T p.L455L Substitution - coding silent Lung COSM1296007 KDM1A c.1266C>T p.F422F Substitution - coding silent Urinary_tract COSM4603590 KMT2C c.2448_2449insA p.I817fs*11 Insertion - Frameshift Upper_aerodigestive_tract COSM5604962 SMYD3 c.128T>A p.V43D Substitution - Missense Skin COSM2175424 HNF1A c.5T>C p.V2A Substitution - Missense Large_intestine COSM1644772 MGA c.3658-2A>T p.? Unknown Salivary_gland COSM488461 KDM5C c.1775A>T p.E592V Substitution - Missense Kidney COSM4155076 WHSC1 c.3054C>A p.C1018* Substitution - Nonsense Kidney COSM1007222 MBD5 c.1569C>A p.N523K Substitution - Missense Endometrium COSM4163032 CHD7 c.3495A>G p.E1165E Substitution - coding silent Thyroid COSM232198 DNMT3A c.2278G>C p.A760P Substitution - Missense Skin COSM1189695 CXXC1 c.1789C>T p.R597W Substitution - Missense Lung COSM4777071 HDAC5 c.2375G>T p.W792L Substitution - Missense Breast COSM4791687 BRD1 c.2301A>G p.P767P Substitution - coding silent Liver COSM991724 MUM1 c.1384A>C p.S462R Substitution - Missense Endometrium COSM4644583 SETD7 c.264C>T p.D88D Substitution - coding silent Large_intestine COSM20712 TRRAP c.5786G>T p.R1929L Substitution - Missense Ovary COSM4823788 EHMT1 c.2079C>T p.L693L Substitution - coding silent Cervix COSM1711631 KDM4B c.1172C>T p.P391L Substitution - Missense Skin COSM1754520 EYA4 c.1044G>A p.G348G Substitution - coding silent Urinary_tract COSM3656872 TAF1L c.846G>A p.R282R Substitution - coding silent Skin COSM5904874 JHDM1D c.2294C>T p.S765F Substitution - Missense Skin COSM1228832 TDRD6 c.308G>A p.R103H Substitution - Missense Large_intestine COSM3703416 CHD7 c.7510G>A p.D2504N Substitution - Missense Liver COSM5707696 HDAC10 c.239A>G p.K80R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM468038 EP400 c.8229G>A p.Q2743Q Substitution - coding silent Pancreas COSM2688067 NIPBL c.7753G>A p.G2585R Substitution - Missense Skin COSM703027 CREBBP c.2331T>C p.G777G Substitution - coding silent Lung COSM1080955 PHF3 c.2869A>C p.K957Q Substitution - Missense Endometrium COSM934515 PRDM4 c.2379G>A p.A793A Substitution - coding silent Large_intestine COSM4036085 SUV420H1 c.1157A>G p.Q386R Substitution - Missense Stomach COSM2154628 EPC1 c.1392-1G>C p.? Unknown Central_nervous_system COSM1287111 PHF21A c.704T>C p.V235A Substitution - Missense Autonomic_ganglia COSM87184 TET2 c.5627C>T p.A1876V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3760177 ACTR8 c.1518A>G p.G506G Substitution - coding silent Bone COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM473827 SETBP1 c.1190C>T p.S397L Substitution - Missense Kidney COSM5821571 EPC2 c.339A>T p.P113P Substitution - coding silent Liver COSM896905 ASH1L c.8145C>T p.H2715H Substitution - coding silent Endometrium COSM1645245 WHSC1 c.692C>T p.S231L Substitution - Missense Large_intestine COSM695010 APOBEC1 c.169A>G p.N57D Substitution - Missense Lung COSM1604854 PHRF1 c.3594G>T p.R1198S Substitution - Missense Liver COSM303614 ZMYM3 c.3292delC p.R1098fs*22 Deletion - Frameshift Central_nervous_system COSM5982691 WHSC1 c.2814G>A p.P938P Substitution - coding silent Upper_aerodigestive_tract COSM1713598 EYA2 c.921G>A p.M307I Substitution - Missense Skin COSM5567181 POGZ c.3071G>A p.S1024N Substitution - Missense Prostate COSM1651166 SETDB1 c.3695T>G p.V1232G Substitution - Missense Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM303879 CTCF c.1130G>A p.R377H Substitution - Missense Endometrium COSM318772 ARID2 c.220G>T p.E74* Substitution - Nonsense Liver COSM3933908 DIDO1 c.1807A>C p.T603P Substitution - Missense Urinary_tract COSM260420 DIDO1 c.3154C>T p.R1052* Substitution - Nonsense Thyroid COSM220497 CREBBP c.4496T>A p.L1499Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM252979 CLOCK c.368delT p.L123fs*1 Deletion - Frameshift Large_intestine COSM5797071 SETD1B c.2142G>A p.E714E Substitution - coding silent Breast COSM4098297 ACTR5 c.629G>A p.R210H Substitution - Missense Stomach COSM937172 EP400 c.5935G>T p.D1979Y Substitution - Missense Endometrium COSM1707921 MTA1 c.1706C>T p.A569V Substitution - Missense Skin COSM5879083 EZH2 c.2021T>C p.L674S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4996757 PHIP c.5279A>G p.K1760R Substitution - Missense Upper_aerodigestive_tract COSM5632139 ASH1L c.327A>C p.R109R Substitution - coding silent Oesophagus COSM3416050 PHRF1 c.3271C>T p.R1091W Substitution - Missense Large_intestine COSM3850367 BRD8 c.3087T>C p.C1029C Substitution - coding silent Stomach COSM5358187 TRRAP c.8718C>T p.H2906H Substitution - coding silent Large_intestine COSM5024878 KDM6A c.97G>T p.E33* Substitution - Nonsense Breast COSM3365404 PBRM1 c.1243A>T p.K415* Substitution - Nonsense Kidney COSM1321143 PHC2 c.2466C>G p.D822E Substitution - Missense Ovary COSM40674 TAF1L c.2894G>A p.C965Y Substitution - Missense Central_nervous_system COSM5882714 CREBBP c.2998G>A p.E1000K Substitution - Missense Upper_aerodigestive_tract COSM34192 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM3954795 HDAC7 c.1702C>G p.R568G Substitution - Missense Lung COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1677489 EP400 c.3934G>A p.A1312T Substitution - Missense Large_intestine COSM1061237 BRD8 c.2404C>T p.R802* Substitution - Nonsense Endometrium COSM4485479 NIPBL c.293C>T p.A98V Substitution - Missense Skin COSM1265380 SFMBT2 c.1710G>T p.M570I Substitution - Missense Oesophagus COSM221609 TET2 c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2244290 RERE c.452delC p.P151fs*23 Deletion - Frameshift Large_intestine COSM4419035 NSD1 c.1749G>A p.E583E Substitution - coding silent Soft_tissue COSM4171974 TAF1 c.2968G>A p.G990R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1063509 HDAC3 c.268G>A p.V90I Substitution - Missense Endometrium COSM87169 TET2 c.4249G>T p.V1417F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5741062 AKAP1 c.1036C>T p.R346W Substitution - Missense Small_intestine COSM3439583 JMJD1C c.2443C>T p.P815S Substitution - Missense Skin COSM3657702 KIAA2026_ENST00000399933 c.2653C>T p.L885L Substitution - coding silent Skin COSM4074054 SMARCA4 c.3580G>A p.G1194R Substitution - Missense Stomach COSM5436698 KDM3A c.2458C>A p.P820T Substitution - Missense Oesophagus COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1293057 ZMYM3 c.3337_3339delTAC p.Y1113delY Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM316223 TRRAP c.8288A>T p.E2763V Substitution - Missense Lung COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM403571 MORF4L2 c.219G>T p.R73S Substitution - Missense Lung COSM5962240 SMYD3 c.294A>G p.E98E Substitution - coding silent Breast COSM3768764 ELP3 c.189C>A p.A63A Substitution - coding silent Liver COSM900292 TDRD5 c.246A>G p.E82E Substitution - coding silent Endometrium COSM2230149 PRDM2 c.4146C>T p.G1382G Substitution - coding silent Biliary_tract COSM1638652 KAT6B c.4374delT p.L1460fs*1 Deletion - Frameshift Breast COSM480186 SETD2 c.4G>T p.E2* Substitution - Nonsense Kidney COSM4629997 EYA3 c.851G>A p.S284N Substitution - Missense Large_intestine COSM1192753 CBX5 c.317delA p.K106fs*31 Deletion - Frameshift Large_intestine COSM127803 DIDO1 c.1740A>C p.T580T Substitution - coding silent Thyroid COSM5723567 CAMKMT c.129C>T p.L43L Substitution - coding silent Skin COSM938870 PRMT8 c.709C>T p.H237Y Substitution - Missense Endometrium COSM5599937 KMT2D c.9532C>T p.P3178S Substitution - Missense Skin COSM4440710 TBL1XR1 c.70T>C p.S24P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3885833 CHD8 c.4982G>C p.G1661A Substitution - Missense Skin COSM5681151 ZMYM3 c.1380C>A p.T460T Substitution - coding silent Soft_tissue COSM4822247 EZH1 c.775G>C p.E259Q Substitution - Missense Cervix COSM1290274 CHD8 c.5447A>G p.E1816G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1226782 SMARCC1 c.1708C>T p.H570Y Substitution - Missense Large_intestine COSM4713950 PHF16 c.1022A>C p.E341A Substitution - Missense Large_intestine COSM3132331 WHSC1 c.2686G>A p.A896T Substitution - Missense Large_intestine COSM2149974 ATAD2 c.2389A>G p.I797V Substitution - Missense Central_nervous_system COSM86974 IKZF1 c.1-?_589+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1704640 KMT2A c.9722C>T p.S3241L Substitution - Missense Skin COSM3563678 BRWD3 c.3715C>T p.L1239F Substitution - Missense Skin COSM5443924 FMR1 c.1724A>T p.D575V Substitution - Missense Oesophagus COSM125571 PRDM9 c.2273G>A p.R758H Substitution - Missense Upper_aerodigestive_tract COSM1671892 BRD8 c.2313A>C p.E771D Substitution - Missense Large_intestine COSM419074 SMYD1 c.1322G>A p.R441Q Substitution - Missense Urinary_tract COSM3203677 MECOM c.922C>T p.P308S Substitution - Missense Skin COSM3430348 PHF10 c.797G>T p.R266I Substitution - Missense Large_intestine COSM1412246 NCOA3 c.210G>A p.A70A Substitution - coding silent Large_intestine COSM6002479 RAI1 c.195G>A p.T65T Substitution - coding silent Prostate COSM4748313 KDM5A c.1332T>G p.N444K Substitution - Missense Stomach COSM87902 KMT2D c.4810_4813delGACT p.D1604fs*1 Deletion - Frameshift Central_nervous_system COSM1447875 SND1 c.2382G>A p.T794T Substitution - coding silent Lung COSM4592007 RAI1 c.841_843delCAG p.Q291delQ Deletion - In frame Upper_aerodigestive_tract COSM52947 IDH2 c.? p.R172? Substitution - Missense Central_nervous_system COSM1708713 GLYR1 c.622G>A p.E208K Substitution - Missense Skin COSM3812810 CHD4 c.5599G>A p.D1867N Substitution - Missense Breast COSM3536662 UHRF1 c.210C>T p.T70T Substitution - coding silent Skin COSM4805633 SMARCD1 c.313T>G p.S105A Substitution - Missense Liver COSM3671172 CHD4 c.1857C>A p.P619P Substitution - coding silent Prostate COSM3690945 SETD1A c.3972C>T p.P1324P Substitution - coding silent Large_intestine COSM1124889 TAF1 c.2508C>A p.S836S Substitution - coding silent Endometrium COSM298053 BRD8 c.557G>A p.R186H Substitution - Missense Large_intestine COSM932706 EED c.120C>T p.D40D Substitution - coding silent Endometrium COSM96347 ASXL1 c.? p.G646fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM5621292 MSH6 c.1468G>A p.E490K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4590784 ATF7IP c.2647C>A p.Q883K Substitution - Missense Upper_aerodigestive_tract COSM5766440 TBL1XR1 c.144A>T p.A48A Substitution - coding silent Large_intestine COSM237738 KMT2A c.834C>G p.L278L Substitution - coding silent Prostate COSM138846 KMT2A c.3493G>C p.E1165Q Substitution - Missense Skin COSM4590050 PRDM10 c.1332A>C p.E444D Substitution - Missense Upper_aerodigestive_tract COSM2854033 PBRM1 c.3691G>T p.G1231* Substitution - Nonsense Large_intestine COSM4621699 PRDM13 c.402G>A p.E134E Substitution - coding silent Skin COSM1490468 SMARCA1 c.962C>A p.S321Y Substitution - Missense Breast COSM4428762 VPS72 c.1008C>T p.A336A Substitution - coding silent Oesophagus COSM1636387 PHF6 c.1088A>G p.N363S Substitution - Missense Liver COSM3807736 KAT6B c.4152T>G p.G1384G Substitution - coding silent Breast COSM5799880 ARID4A c.1869G>C p.V623V Substitution - coding silent Breast COSM5799677 BTAF1 c.2871A>G p.K957K Substitution - coding silent Breast COSM4635877 TDRD5 c.2037G>A p.T679T Substitution - coding silent Large_intestine COSM3411009 PHF1 c.19C>T p.L7L Substitution - coding silent Central_nervous_system COSM5997855 ATAD2 c.2992C>T p.H998Y Substitution - Missense Prostate COSM13394 MSH6 c.3261_3262insC p.F1088fs*5 Insertion - Frameshift Large_intestine COSM4426597 EZH1 c.1957G>A p.D653N Substitution - Missense Oesophagus COSM1077 SMARCB1 c.545delA p.Q182fs*27 Deletion - Frameshift Central_nervous_system COSM13394 MSH6 c.3261_3262insC p.F1088fs*5 Insertion - Frameshift Large_intestine COSM13394 MSH6 c.3261_3262insC p.F1088fs*5 Insertion - Frameshift Large_intestine COSM1688025 BRDT c.505G>A p.E169K Substitution - Missense Skin COSM1271003 ZMYND8 c.393C>A p.H131Q Substitution - Missense Oesophagus COSM3902419 TDRD7 c.726G>A p.K242K Substitution - coding silent Stomach COSM400137 ALKBH3 c.334G>C p.D112H Substitution - Missense Lung COSM4802777 BAZ2A_ENST00000379441 c.3742C>T p.L1248L Substitution - coding silent Liver COSM5991757 DHX30 c.3481delC p.S1163fs*>32 Deletion - Frameshift Prostate COSM1023357 TET2 c.2166_2166delG p.K722fs*29 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1483561 NCOA6 c.5368A>G p.T1790A Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM751079 CHD7 c.1214C>T p.P405L Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4536093 CHD6 c.2268G>A p.E756E Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5606600 GTF3C1 c.1566T>G p.V522V Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5976233 TIF1 c.1289G>A p.S430N Substitution - Missense Upper_aerodigestive_tract COSM209777 IDH1 c.97C>T p.P33S Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2974766 TRIM28 c.870T>G p.R290R Substitution - coding silent Large_intestine COSM5736215 EPC2 c.1675G>T p.A559S Substitution - Missense Small_intestine COSM1003 SMARCB1 c.1116G>A p.T372T Substitution - coding silent Soft_tissue COSM465101 MTF2 c.182T>C p.F61S Substitution - Missense Kidney COSM4387043 NIPBL c.6947C>T p.P2316L Substitution - Missense Lung COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM1609385 BRD7 c.751C>G p.Q251E Substitution - Missense Liver COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM5548466 ERCC6 c.3573A>G p.A1191A Substitution - coding silent Prostate COSM5599760 KDM6B c.3860C>T p.S1287F Substitution - Missense Skin COSM5625364 MYST3 c.3187C>A p.P1063T Substitution - Missense Oesophagus COSM1363344 MBD6 c.2006delC p.P671fs*4 Deletion - Frameshift Prostate COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM5484173 CHD3 c.3797G>A p.R1266Q Substitution - Missense Large_intestine COSM4671298 CDYL2 c.971G>A p.R324Q Substitution - Missense Large_intestine COSM5455774 SMARCA2 c.1470G>T p.E490D Substitution - Missense Large_intestine COSM4383942 TET2 c.4176C>G p.S1392R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3669244 SETD7 c.1045G>A p.A349T Substitution - Missense Liver COSM1195665 BTAF1 c.5363G>A p.S1788N Substitution - Missense Lung COSM4383609 DNMT3A c.793G>T p.V265L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1628614 ARID2 c.5260C>T p.R1754* Substitution - Nonsense Liver COSM908356 PRDM16 c.1882G>A p.D628N Substitution - Missense Endometrium COSM4542910 HNF1A c.327G>A p.Q109Q Substitution - coding silent Skin COSM894182 TRIM33 c.2037G>A p.S679S Substitution - coding silent Endometrium COSM148078 CHD9 c.5406G>A p.Q1802Q Substitution - coding silent Stomach COSM3358425 KDM5C c.365_371delAAGGTGG p.E122fs*14 Deletion - Frameshift Kidney COSM5558732 KMT2C c.5111T>A p.L1704* Substitution - Nonsense Prostate COSM4589653 CHD8 c.3800_3801insGA p.F1268fs*19 Insertion - Frameshift Prostate COSM5953703 CDYL2 c.1151C>T p.A384V Substitution - Missense Upper_aerodigestive_tract COSM5834430 DNMT3A c.1136delG p.R379fs*28 Deletion - Frameshift Breast COSM1125483 ATRX c.2559G>T p.E853D Substitution - Missense Endometrium COSM5748877 BAZ2B c.1291C>T p.R431W Substitution - Missense Pancreas COSM3563140 TAF1 c.965C>T p.S322F Substitution - Missense Skin COSM239315 CHD7 c.5740C>T p.R1914C Substitution - Missense Prostate COSM5819706 TDRD5 c.2509T>A p.S837T Substitution - Missense Liver COSM461747 PHF3 c.1635C>G p.V545V Substitution - coding silent Cervix COSM4817220 MUM1 c.1275C>A p.F425L Substitution - Missense Cervix COSM970036 SETD1A c.527G>A p.R176Q Substitution - Missense Biliary_tract COSM3615936 NIPBL c.1585G>C p.G529R Substitution - Missense Skin COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM22635 MEN1 c.1313_1331del19 p.T438fs*14 Deletion - Frameshift Parathyroid COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43484 TET2 c.4271_4271delC p.S1424fs*24 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41716 ASXL1 c.1888_1909del22 p.H630fs*66 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85911 IKZF1 c.161-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM83884 ARID1A c.3826C>T p.R1276* Substitution - Nonsense Endometrium COSM94709 KMT2A c.8598C>G p.S2866R Substitution - Missense Lung COSM100067 TET2 c.783_783delC p.C262fs*31 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM97041 ASXL1 c.2846_2847delGT p.G949fs*5 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM87919 SHPRH c.495_496insA p.E166fs*7 Insertion - Frameshift Large_intestine COSM112087 TDG c.286_287insA p.I98fs*6 Insertion - Frameshift Upper_aerodigestive_tract COSM133672 IDH2 c.516G>C p.R172S Substitution - Missense Bone COSM133672 IDH2 c.516G>C p.R172S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144215 ATRX c.5215C>T p.R1739* Substitution - Nonsense Central_nervous_system COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Soft_tissue COSM166441 ARID2 c.4909C>T p.Q1637* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41706 TET2 c.4354C>T p.R1452* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM249225 TRIM24 c.3067A>C p.K1023Q Substitution - Missense Kidney COSM266935 KMT2D c.5695G>A p.A1899T Substitution - Missense Large_intestine COSM268719 ASXL1 c.794G>A p.R265H Substitution - Missense Large_intestine COSM298921 NCOA3 c.2983G>A p.A995T Substitution - Missense Liver COSM311708 HCFC1 c.1520A>C p.N507T Substitution - Missense Lung COSM310431 CXXC1 c.714A>C p.P238P Substitution - coding silent Lung COSM354717 MGA c.6300C>T p.S2100S Substitution - coding silent Lung COSM368387 TAF1 c.4324C>T p.R1442W Substitution - Missense Lung COSM423359 PRMT6 c.763C>T p.P255S Substitution - Missense Breast COSM421602 SND1 c.1956G>A p.Q652Q Substitution - coding silent Urinary_tract COSM460145 AP001011.3_ENST00000320876 c.3584C>T p.S1195L Substitution - Missense Cervix COSM466083 BTAF1 c.3894T>G p.T1298T Substitution - coding silent Kidney COSM972499 CTCF c.1702-1G>C p.? Unknown Endometrium COSM480286 BAP1 c.932-1G>T p.? Unknown Kidney COSM480297 BAP1 c.3G>A p.M1I Substitution - Missense Skin COSM915008 TDRD1 c.389C>T p.P130L Substitution - Missense Endometrium COSM693714 KMT2D c.14098G>T p.E4700* Substitution - Nonsense Lung COSM955476 BAZ1A c.475G>T p.E159* Substitution - Nonsense Endometrium COSM955477 BAZ1A c.296C>T p.S99L Substitution - Missense Endometrium COSM1027978 ADNP c.638C>T p.S213L Substitution - Missense Endometrium COSM723728 ACTR5 c.924C>A p.L308L Substitution - coding silent Lung COSM732049 TET2 c.28G>C p.E10Q Substitution - Missense Lung COSM737894 NIPBL c.6590G>T p.G2197V Substitution - Missense Lung COSM929715 MTA2 c.1994T>A p.V665D Substitution - Missense Endometrium COSM945797 ZMYM5 c.418G>A p.E140K Substitution - Missense Large_intestine COSM961343 INOC1 c.3841C>T p.R1281W Substitution - Missense Endometrium COSM1071083 BRD9 c.407T>C p.M136T Substitution - Missense Endometrium COSM1078038 PHF1 c.504A>G p.P168P Substitution - coding silent Endometrium COSM970048 SETD1A c.2358G>A p.P786P Substitution - coding silent Endometrium COSM1060223 LMNB1 c.1247G>T p.R416L Substitution - Missense Endometrium COSM1098856 ELP3 c.1440T>C p.S480S Substitution - coding silent Endometrium COSM1087064 EZH2 c.233G>A p.R78H Substitution - Missense Large_intestine COSM1225668 SHPRH c.4853C>T p.A1618V Substitution - Missense Large_intestine COSM1189250 SRCAP c.9305G>A p.G3102D Substitution - Missense Lung COSM1369659 BAZ1A c.219delA p.A74fs*12 Deletion - Frameshift Large_intestine COSM1364341 APOBEC1 c.270G>A p.W90* Substitution - Nonsense Large_intestine COSM1360170 EP400 c.2201C>T p.T734M Substitution - Missense Large_intestine COSM1620695 CHD1 c.3875A>T p.D1292V Substitution - Missense Liver COSM1579255 BAZ2B c.6483G>T p.W2161C Substitution - Missense Fallopian_tube COSM1625943 HDAC6 c.1974C>A p.H658Q Substitution - Missense Liver COSM1685550 BAP1 c.168_179del12 p.R57_R60delRSRR Deletion - In frame Skin COSM1716733 ATRX c.6812_6815delGAAA p.R2271fs*14 Deletion - Frameshift Central_nervous_system COSM1703076 TDRD1 c.3103C>T p.L1035F Substitution - Missense Skin COSM1663066 NIPBL c.1252C>T p.Q418* Substitution - Nonsense Kidney COSM1757128 NIPBL c.2228G>A p.R743H Substitution - Missense Urinary_tract COSM1745844 SIRT1 c.476C>T p.S159F Substitution - Missense Urinary_tract COSM1735407 BAHCC1 c.6269G>A p.R2090H Substitution - Missense Pancreas COSM2183194 VPS72 c.563-1G>A p.? Unknown Cervix COSM2134083 ZMYND11 c.173A>C p.N58T Substitution - Missense Upper_aerodigestive_tract COSM2797922 BPTF c.8592G>T p.T2864T Substitution - coding silent Large_intestine COSM3320191 POLE3 c.191T>C p.L64P Substitution - Missense Large_intestine COSM3376314 BAZ2A c.5666C>T p.T1889I Substitution - Missense Pancreas COSM3431460 HDAC9 c.1040C>T p.S347L Substitution - Missense Large_intestine COSM3467858 RNF17 c.297G>A p.M99I Substitution - Missense Skin COSM3636986 HDAC9 c.512C>T p.S171F Substitution - Missense Skin COSM3623161 HDGFL1 c.132G>A p.G44G Substitution - coding silent Skin COSM3630734 ZCWPW1 c.1213C>T p.L405L Substitution - coding silent Skin COSM3608982 KDM3B c.3472G>A p.E1158K Substitution - Missense Skin COSM3527184 L3MBTL4 c.18G>A p.R6R Substitution - coding silent Skin COSM3698041 STK31 c.324+1G>A p.? Unknown Large_intestine COSM3665713 EPC1 c.152C>A p.S51* Substitution - Nonsense Liver COSM3715611 TIF1 c.2615G>A p.R872K Substitution - Missense Upper_aerodigestive_tract COSM3810196 KDM2A c.1576A>C p.T526P Substitution - Missense Breast COSM3794179 TP53BP1 c.2926G>A p.G976R Substitution - Missense Urinary_tract COSM3796413 SETBP1 c.893C>T p.S298L Substitution - Missense Urinary_tract COSM3942743 EYA1 c.203C>A p.A68E Substitution - Missense Oesophagus COSM3833573 TRRAP c.1623C>T p.F541F Substitution - coding silent Breast COSM3844243 SCML2 c.685T>G p.W229G Substitution - Missense Breast COSM3883720 TRRAP c.4147A>G p.R1383G Substitution - Missense Stomach COSM3900861 CHD7 c.2839C>T p.R947* Substitution - Nonsense Stomach COSM4042385 KMT2D c.5943G>A p.S1981S Substitution - coding silent Stomach COSM3988434 SETD1A c.49T>C p.W17R Substitution - Missense Kidney COSM4104944 BRD1 c.748T>C p.Y250H Substitution - Missense Stomach COSM4104564 TCF20 c.175C>T p.R59* Substitution - Nonsense Stomach COSM4074052 SMARCA4 c.3351G>A p.A1117A Substitution - coding silent Stomach COSM4130748 KDM6B c.181C>T p.P61S Substitution - Missense Thyroid COSM4130811 BAHCC1 c.814G>A p.A272T Substitution - Missense Thyroid COSM4137485 EP300 c.3591-6C>T p.? Unknown Ovary COSM4156646 FMR1 c.1211T>G p.V404G Substitution - Missense Thyroid COSM4170447 KMT2D c.3470G>T p.C1157F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4171525 ARID1B c.5758C>T p.Q1920* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4188560 JARID2 c.348G>C p.K116N Substitution - Missense Kidney COSM4445220 CHD7 c.5488G>T p.A1830S Substitution - Missense Large_intestine COSM4511850 CHD1 c.882C>T p.I294I Substitution - coding silent Skin COSM4445389 ATAD2 c.1266+3G>A p.? Unknown Skin COSM4693812 JARID2 c.3095C>T p.A1032V Substitution - Missense Large_intestine COSM4630013 PHC2 c.375C>T p.S125S Substitution - coding silent Large_intestine COSM4644806 BAZ1B c.3009G>C p.L1003F Substitution - Missense Large_intestine COSM4754537 MYST2 c.1145G>A p.R382H Substitution - Missense Stomach COSM4756516 PHF3 c.1717C>A p.H573N Substitution - Missense Stomach COSM4790382 SCMH1 c.864T>A p.P288P Substitution - coding silent Liver COSM4805496 JMJD1C c.6686A>G p.H2229R Substitution - Missense Liver COSM4887070 KDM6A c.2012C>A p.A671E Substitution - Missense Upper_aerodigestive_tract COSM4886108 MBD5 c.3416C>A p.A1139D Substitution - Missense Upper_aerodigestive_tract COSM4909142 KMT2C c.1050G>A p.P350P Substitution - coding silent Large_intestine COSM4933793 KDM4D c.848T>C p.F283S Substitution - Missense Liver COSM4855522 DIDO1 c.2737G>A p.E913K Substitution - Missense Cervix COSM4853950 DIDO1 c.3101+2T>A p.? Unknown Cervix COSM4823388 CHD6 c.6215G>A p.R2072Q Substitution - Missense Cervix COSM4965392 AICDA c.168C>T p.H56H Substitution - coding silent Pancreas COSM4959250 HDAC9 c.2587G>A p.V863I Substitution - Missense Liver COSM4945433 UHRF2 c.2332A>G p.N778D Substitution - Missense Liver COSM4991287 DOT1L c.2709C>T p.P903P Substitution - coding silent Skin COSM5004281 KDM3B c.852C>G p.G284G Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4988881 NSD1 c.6750G>A p.M2250I Substitution - Missense Soft_tissue COSM5019449 ERCC6 c.411G>A p.L137L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5015274 BAHD1 c.1733C>T p.P578L Substitution - Missense Kidney COSM5053999 ARID4A c.2312delT p.F772fs*33 Deletion - Frameshift Stomach COSM5042739 ASH1L c.7190G>A p.R2397Q Substitution - Missense Liver COSM5369432 BAZ2B c.4002T>A p.D1334E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5388754 MUM1 c.1580A>G p.Q527R Substitution - Missense Skin COSM5357292 BAG6 c.2966G>A p.G989D Substitution - Missense Large_intestine COSM5501267 ATAD2B_ENST00000238789 c.2398G>C p.D800H Substitution - Missense Biliary_tract COSM5495969 GATAD2A c.225C>T p.V75V Substitution - coding silent Biliary_tract COSM5447859 UHRF2 c.1497+2T>C p.? Unknown Large_intestine COSM5757820 MTA1 c.1777+8_1777+9insC p.? Unknown Bone COSM5757218 MYST3 c.2711A>G p.E904G Substitution - Missense Large_intestine COSM5599022 ACTR5 c.312C>T p.V104V Substitution - coding silent Skin COSM5599299 CHD9 c.5461G>A p.E1821K Substitution - Missense Skin COSM5585407 HDAC9 c.90C>T p.L30L Substitution - coding silent Skin COSM5568476 PRMT1 c.218C>A p.S73* Substitution - Nonsense Prostate COSM5833450 CHD3 c.4166delG p.N1390fs*35 Deletion - Frameshift Breast COSM5879023 TET2 c.3804-2A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5945575 PHF6 c.241-1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5945645 DNMT3A c.1429+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5901533 ATAD2 c.1967C>T p.P656L Substitution - Missense Skin COSM5963216 ARID1A c.583T>C p.Y195H Substitution - Missense Breast COSM5967912 BRD4 c.495C>A p.P165P Substitution - coding silent Genital_tract COSM5968787 PRDM2 c.5047C>T p.R1683C Substitution - Missense Upper_aerodigestive_tract COSM6014806 CHD4 c.1064-9C>G p.? Unknown Skin COSM5969466 ORC1 c.1506G>C p.E502D Substitution - Missense Upper_aerodigestive_tract COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM1716797 TET2 c.? p.L1276fs*87 Frameshift Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5417520 TET2 c.? p.M1333fs*6 Frameshift Haematopoietic_and_lymphoid_tissue COSM43413 TET2 c.?_?ins? p.?fs Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1738035 ASXL1 c.? p.G642fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4620621 PWWP2B c.524A>G p.Q175R Substitution - Missense Large_intestine COSM3727849 TRIM66 c.1888C>G p.L630V Substitution - Missense Upper_aerodigestive_tract COSM4555852 DNMT3B c.634G>A p.G212R Substitution - Missense Skin COSM251421 ARID1A c.6260G>A p.G2087E Substitution - Missense Liver COSM5967528 MSH6 c.3312_3312delT p.F1104fs*11 Deletion - Frameshift Endometrium COSM3365443 TET2 c.3825G>A p.G1275G Substitution - coding silent Kidney COSM1386957 CBX4 c.900C>T p.D300D Substitution - coding silent Large_intestine COSM3796885 DOT1L c.4260C>G p.L1420L Substitution - coding silent Urinary_tract COSM1757202 TRRAP c.634-2A>T p.? Unknown Urinary_tract COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Central_nervous_system COSM5965471 SMARCC1 c.1237G>A p.E413K Substitution - Missense Breast COSM971423 CHD9 c.4070G>A p.R1357Q Substitution - Missense Large_intestine COSM5342155 SMARCD1 c.931C>T p.Q311* Substitution - Nonsense Large_intestine COSM5713242 TDRD3 c.938_940delATA p.N315delN Deletion - In frame Central_nervous_system COSM3733522 NCOR1 c.59A>C p.Y20S Substitution - Missense Pancreas COSM1248217 CHD6 c.7707G>A p.A2569A Substitution - coding silent Oesophagus COSM132992 ARID1A c.6259G>A p.G2087R Substitution - Missense Pancreas COSM5752669 PHF6 c.1042G>T p.G348* Substitution - Nonsense Breast COSM87011 DNMT3A c.2141C>G p.S714C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87011 DNMT3A c.2141C>G p.S714C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4614818 KDM6B c.1974_1975insG p.V660fs*13 Insertion - Frameshift Large_intestine COSM251395 ARID2 c.1716-2A>G p.? Unknown Liver COSM1674452 TAF1L c.1597C>T p.P533S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3377698 IDH2 c.696G>A p.A232A Substitution - coding silent Pancreas COSM3808790 PRDM10 c.2399T>C p.I800T Substitution - Missense Breast COSM3825266 SMARCA5 c.2052+2T>G p.? Unknown Breast COSM1743874 NCOA7 c.235A>G p.I79V Substitution - Missense Biliary_tract COSM43504 TET2 c.2290_2291insC p.Q764fs*5 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5969389 ZMYM6 c.1557C>T p.S519S Substitution - coding silent Upper_aerodigestive_tract COSM394154 GLYR1 c.583G>T p.G195* Substitution - Nonsense Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM3844030 HCFC1 c.4594G>A p.E1532K Substitution - Missense Breast COSM4826705 PBRM1 c.1724T>A p.I575N Substitution - Missense Cervix COSM1390748 MUM1 c.1691G>T p.R564L Substitution - Missense Large_intestine COSM483593 JARID2 c.366G>T p.P122P Substitution - coding silent Kidney COSM85916 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3818889 NCOR1 c.5380C>T p.R1794* Substitution - Nonsense Breast COSM5945054 TET2 c.4102T>G p.F1368V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM285644 TDRD7 c.3122G>A p.R1041Q Substitution - Missense Endometrium COSM5030177 MYST3 c.3754G>A p.A1252T Substitution - Missense Bone COSM5061311 PRDM1 c.847G>A p.E283K Substitution - Missense Stomach COSM900303 TDRD5 c.1994C>A p.S665Y Substitution - Missense Endometrium COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM315836 TCF20 c.3988G>A p.A1330T Substitution - Missense Lung COSM5611446 BAP1 c.371_375+15del20 p.? Unknown Pleura COSM4574499 PHRF1 c.68G>T p.G23V Substitution - Missense Bone COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM163451 PHF3 c.3864C>T p.L1288L Substitution - coding silent Breast COSM1019135 NCOA1 c.1283G>A p.S428N Substitution - Missense Endometrium COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Large_intestine COSM4695851 KIAA2026_ENST00000399933 c.4295T>G p.I1432S Substitution - Missense Large_intestine COSM4152327 KDM4C c.1274C>T p.T425I Substitution - Missense Ovary COSM3950209 KMT2C c.4596C>G p.N1532K Substitution - Missense Lung COSM3353125 TDRD6 c.4940C>A p.S1647Y Substitution - Missense Breast COSM4613619 PRMT10 c.756_758delTGT p.V253delV Deletion - In frame Large_intestine COSM30575 SMARCA4 c.3488T>C p.L1163P Substitution - Missense Large_intestine COSM5919616 PRDM14 c.1130C>T p.P377L Substitution - Missense Skin COSM919505 JMJD1C c.1418G>A p.R473Q Substitution - Missense Endometrium COSM3951830 PRDM14 c.134C>G p.T45S Substitution - Missense Lung COSM4065093 PHF12 c.828G>A p.T276T Substitution - coding silent Stomach COSM28801 KDM6A c.226-?_654+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM895916 TDRKH c.601C>T p.R201W Substitution - Missense Skin COSM3514698 SMYD4 c.2244C>T p.A748A Substitution - coding silent Skin COSM1753989 BRD8 c.671C>T p.S224F Substitution - Missense Upper_aerodigestive_tract COSM996182 SIRT2 c.457C>T p.R153C Substitution - Missense Large_intestine COSM5417993 MGA c.1180G>C p.G394R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3774230 BAG6 c.1855T>C p.S619P Substitution - Missense Soft_tissue COSM5440511 RUVBL1 c.10G>C p.E4Q Substitution - Missense Oesophagus COSM315859 TDRD6 c.5435T>A p.L1812Q Substitution - Missense Soft_tissue COSM5573732 SMC1A c.855-2A>G p.? Unknown Prostate COSM971439 CHD9 c.8328C>T p.S2776S Substitution - coding silent Endometrium COSM934205 TDG c.548G>A p.G183E Substitution - Missense Endometrium COSM4953577 PHF23 c.1034G>T p.R345L Substitution - Missense Liver COSM4934133 HDAC10 c.438G>T p.V146V Substitution - coding silent Liver COSM4771416 PBRM1 c.2837_2837delC p.T946fs*68 Deletion - Frameshift Kidney COSM1627436 BMI1 c.844C>T p.P282S Substitution - Missense Liver COSM5760544 BAP1 c.? p.Q393? Unknown Skin COSM1021305 MSH6 c.3700G>T p.E1234* Substitution - Nonsense Endometrium COSM4385703 ASXL1 c.2708_2709insGAAT p.D905fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3782137 SP100 c.1571C>A p.S524Y Substitution - Missense Pancreas COSM5747463 ZMYM2 c.3532A>G p.I1178V Substitution - Missense Pancreas COSM5608370 EP300 c.5245C>A p.R1749R Substitution - coding silent Skin COSM5932084 KMT2C c.7981C>T p.P2661S Substitution - Missense Skin COSM693656 KMT2D c.2781C>G p.I927M Substitution - Missense Lung COSM1664343 SRCAP c.3430G>C p.A1144P Substitution - Missense Kidney COSM2931086 DIDO1 c.5339C>T p.P1780L Substitution - Missense Liver COSM5835981 KDM5C c.3850_3851delAG p.R1284fs*15 Deletion - Frameshift Breast COSM5707811 BAZ2B c.1397G>T p.S466I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1698019 EYA4 c.1231G>A p.E411K Substitution - Missense Skin COSM4137909 PRDM13 c.672G>T p.R224R Substitution - coding silent Ovary COSM3818888 NCOR1 c.5449G>A p.A1817T Substitution - Missense Breast COSM1076373 KDM1B c.120G>A p.E40E Substitution - coding silent Endometrium COSM1694313 GABRG1 c.973C>T p.P325S Substitution - Missense Skin COSM1342134 ZMYM4 c.2412_2413insA p.Y806fs*12 Insertion - Frameshift Large_intestine COSM43438 TET2 c.5473C>T p.Q1825* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1195963 SMC1A c.3084G>A p.M1028I Substitution - Missense Lung COSM1583083 DNMT3A c.1840G>A p.D614N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1683240 INO80B c.996_997insGC p.P333fs*>12 Insertion - Frameshift Ovary COSM5608362 EP300 c.323C>T p.A108V Substitution - Missense Skin COSM4763083 ARID1B c.1512C>G p.I504M Substitution - Missense Stomach COSM3696125 DHX30 c.3243G>A p.K1081K Substitution - coding silent Large_intestine COSM4473205 LMNA c.1835C>T p.S612F Substitution - Missense Skin COSM1085178 SND1 c.663C>A p.V221V Substitution - coding silent Endometrium COSM1496359 PHF3 c.245-2A>T p.? Unknown Kidney COSM5884710 MYST3 c.3106G>A p.E1036K Substitution - Missense Soft_tissue COSM5402548 HDAC3 c.428G>A p.G143D Substitution - Missense Skin COSM3488160 HDAC1 c.756C>T p.F252F Substitution - coding silent Skin COSM1561786 SETD8 c.849C>T p.C283C Substitution - coding silent Large_intestine COSM4093197 NCOA1 c.968C>T p.A323V Substitution - Missense Stomach COSM346253 TDRD6 c.4719T>C p.P1573P Substitution - coding silent Lung COSM4052631 ALKBH1 c.505C>T p.R169C Substitution - Missense Prostate COSM1627962 RAG2 c.888G>T p.K296N Substitution - Missense Liver COSM3204175 PHC3 c.159A>G p.A53A Substitution - coding silent Large_intestine COSM3486474 SMYD3 c.672G>A p.W224* Substitution - Nonsense Skin COSM4385091 ASXL1 c.2185_2188delAGCT p.S729fs*14 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5917675 MBD5 c.1466C>T p.P489L Substitution - Missense Skin COSM4604062 KMT2C c.11060G>A p.S3687N Substitution - Missense Upper_aerodigestive_tract COSM3724844 DIDO1 c.4372G>T p.E1458* Substitution - Nonsense Lung COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4404007 KAT2B c.1088C>T p.P363L Substitution - Missense Skin COSM72282 PRDM9 c.2480C>G p.T827R Substitution - Missense Ovary COSM894480 TTF2 c.43C>A p.L15I Substitution - Missense Endometrium COSM3981395 PRDM10 c.755A>C p.H252P Substitution - Missense Ovary COSM5901670 PCGF6 c.881G>A p.R294K Substitution - Missense Skin COSM4997169 PRDM2 c.3658_3659insC p.H1221fs*5 Insertion - Frameshift Upper_aerodigestive_tract COSM379053 MTA1 c.112G>A p.V38M Substitution - Missense Lung COSM4075093 MBD3 c.811G>A p.D271N Substitution - Missense Stomach COSM2909174 HDAC4 c.599G>A p.R200H Substitution - Missense Large_intestine COSM1718382 CDYL2 c.533G>A p.G178D Substitution - Missense Skin COSM941541 SMARCC2 c.3222G>A p.A1074A Substitution - coding silent Endometrium COSM4937240 TCF19 c.642G>T p.T214T Substitution - coding silent Liver COSM5985194 TET2 c.4094G>T p.G1365V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4433734 KDM6A c.2550G>C p.G850G Substitution - coding silent Oesophagus COSM163438 PHF12 c.1015G>A p.D339N Substitution - Missense Breast COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96367 BAP1 c.122+2T>A p.? Unknown Pleura COSM87169 TET2 c.4249G>T p.V1417F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4749126 KDM4B c.190G>A p.D64N Substitution - Missense Stomach COSM4694850 KDM1A c.2195C>T p.A732V Substitution - Missense Large_intestine COSM4011549 SMNDC1 c.657A>C p.K219N Substitution - Missense Stomach COSM5574319 BAP1 c.1924_1924delG p.E642fs*13 Deletion - Frameshift Eye COSM1324492 SETD1A c.639G>C p.T213T Substitution - coding silent Ovary COSM4490265 TCF20 c.360C>T p.P120P Substitution - coding silent Skin COSM198796 PHF2 c.1468delA p.K492fs*6 Deletion - Frameshift Large_intestine COSM4165157 RBBP4 c.238G>A p.V80I Substitution - Missense Kidney COSM1611160 AP001011.3_ENST00000320876 c.4069A>G p.I1357V Substitution - Missense Liver COSM1393476 SIRT2 c.1074G>A p.A358A Substitution - coding silent Large_intestine COSM4774987 PHF6 c.407_408insT p.N137fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5882252 ARID2 c.3049C>T p.H1017Y Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1188484 KMT2D c.2043G>T p.L681F Substitution - Missense Lung COSM5751760 EZH2 c.74G>GT p.L26fs*11 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM1322948 MPHOSPH8 c.885delT p.S295fs*20 Deletion - Frameshift Ovary COSM34090 IDH2 c.516G>T p.R172S Substitution - Missense Bone COSM5565405 CTCF c.82C>T p.R28C Substitution - Missense Prostate COSM211641 TET2 c.1496_1496delC p.P499fs*34 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4068907 BPTF c.2032A>G p.K678E Substitution - Missense Stomach COSM4990234 KMT2D c.15116C>T p.P5039L Substitution - Missense Skin COSM34090 IDH2 c.516G>T p.R172S Substitution - Missense Bone COSM3901337 NCOA2 c.3496G>A p.A1166T Substitution - Missense Stomach COSM5387552 CBX4 c.1638C>T p.T546T Substitution - coding silent Skin COSM1179669 KMT2C c.943G>A p.G315S Substitution - Missense Central_nervous_system COSM5021464 BRD9 c.983+9C>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4521196 CBX1 c.109G>A p.E37K Substitution - Missense Skin COSM3738080 PRDM2 c.3130G>A p.A1044T Substitution - Missense Soft_tissue COSM3751837 ERCC6 c.3289A>G p.M1097V Substitution - Missense Soft_tissue COSM463140 LMNA c.1444C>T p.R482W Substitution - Missense Small_intestine COSM4935359 PRDM5 c.887T>C p.I296T Substitution - Missense Liver COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM734378 GABRG1 c.1271C>A p.T424K Substitution - Missense Lung COSM5829737 PBRM1 c.996-5_996-3delTGT p.? Unknown Large_intestine COSM3160333 PHF3 c.5326C>T p.P1776S Substitution - Missense Skin COSM3805036 ZMYM4 c.1084C>T p.Q362* Substitution - Nonsense Breast COSM1087558 KMT2C c.9172C>A p.L3058I Substitution - Missense Endometrium COSM5496810 TDRD5 c.460G>A p.E154K Substitution - Missense Biliary_tract COSM4790584 KAT2B c.2380C>T p.R794* Substitution - Nonsense Liver COSM4954551 KMT2D c.13336G>T p.G4446W Substitution - Missense Liver COSM4705967 NCOA5 c.462A>G p.G154G Substitution - coding silent Large_intestine COSM255213 MEN1 c.1621A>G p.T541A Substitution - Missense Soft_tissue COSM1348870 SFMBT2 c.2582C>T p.P861L Substitution - Missense Large_intestine COSM1026859 CHD6 c.4887C>A p.L1629L Substitution - coding silent Endometrium COSM86971 IKZF1 c.1-?_715+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5824418 ING3 c.138C>T p.F46F Substitution - coding silent Liver COSM1090914 ACTB c.416T>C p.V139A Substitution - Missense Large_intestine COSM4936304 NCOR1 c.4491C>A p.P1497P Substitution - coding silent Liver COSM1266315 SMYD1 c.427G>A p.E143K Substitution - Missense Oesophagus COSM5006399 MBD6 c.2828C>T p.P943L Substitution - Missense Skin COSM4406324 NCOA5 c.355C>T p.P119S Substitution - Missense Skin COSM5361561 KMT2D c.7029G>A p.P2343P Substitution - coding silent Large_intestine COSM4385107 ASXL1 c.2467delT p.L823fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1466684 HCFC1 c.5659G>A p.A1887T Substitution - Missense Large_intestine COSM3869978 KDM2A c.2390C>T p.S797L Substitution - Missense Skin COSM110355 CBX4 c.970C>T p.P324S Substitution - Missense Liver COSM3656088 EHMT1 c.2032C>T p.P678S Substitution - Missense Skin COSM3906844 TAF1L c.2663G>A p.R888H Substitution - Missense Stomach COSM4689665 HDAC11 c.875G>A p.R292H Substitution - Missense Large_intestine COSM257768 POGZ c.1828C>T p.R610W Substitution - Missense Large_intestine COSM212774 BAP1 c.1574C>G p.S525C Substitution - Missense Breast COSM4494041 NCOA1 c.4259C>T p.P1420L Substitution - Missense Skin COSM4097595 DNMT3B c.720C>A p.P240P Substitution - coding silent Stomach COSM5472737 TAF1L c.3406C>A p.L1136M Substitution - Missense Large_intestine COSM37029 EZH2 c.1937A>C p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5724114 ATF7IP c.1749A>G p.V583V Substitution - coding silent Skin COSM225885 KMT2C c.1139G>T p.R380L Substitution - Missense Soft_tissue COSM2218371 PYGO1 c.964delA p.S322fs*29 Deletion - Frameshift Large_intestine COSM983281 BPTF c.1095G>T p.Q365H Substitution - Missense Endometrium COSM5139802 TRRAP c.10237delA p.K3414fs*19 Deletion - Frameshift Large_intestine COSM1333900 SETDB1 c.3766C>T p.R1256W Substitution - Missense Large_intestine COSM4781632 SMARCA4 c.3484G>A p.G1162S Substitution - Missense Oesophagus COSM4094921 SMEK2 c.846T>G p.V282V Substitution - coding silent Stomach COSM4144197 RERE c.1297A>C p.T433P Substitution - Missense Thyroid COSM41844 TET2 c.? p.Q891* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM943595 APOBEC1 c.223G>T p.D75Y Substitution - Missense Endometrium COSM1609410 CHD9 c.2363A>G p.D788G Substitution - Missense Liver COSM4753418 KAT2A c.2122G>A p.V708I Substitution - Missense Stomach COSM5625555 TET2 c.4171G>T p.G1391C Substitution - Missense Oesophagus COSM4188675 PBRM1 c.4211delA p.Y1404fs*28 Deletion - Frameshift Kidney COSM3746165 LBR c.264T>G p.G88G Substitution - coding silent Liver COSM1319436 KDM6A c.1861C>T p.R621C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1413023 DIDO1 c.2133delT p.F711fs*22 Deletion - Frameshift Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM318000 SCMH1 c.1440delG p.L482fs*35 Deletion - Frameshift Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4999866 EP400 c.4766C>T p.P1589L Substitution - Missense Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM187703 MGA c.7450C>T p.R2484W Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4799095 BRPF3 c.3054C>T p.L1018L Substitution - coding silent Liver COSM4490920 SMARCA4 c.3713C>T p.S1238F Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1007221 MBD5 c.1476A>G p.S492S Substitution - coding silent Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4950109 DNMT1 c.4570A>G p.S1524G Substitution - Missense Liver COSM731724 ATXN7 c.2136A>G p.P712P Substitution - coding silent Lung COSM349455 CBX2 c.795G>T p.Q265H Substitution - Missense Lung COSM110818 BAP1 c.1_2190del2190 p.0? Whole gene deletion Pleura COSM1936440 BAZ2A c.5503C>T p.L1835F Substitution - Missense Large_intestine COSM1386955 CBX8 c.60C>T p.R20R Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4036881 RSF1 c.2598C>T p.G866G Substitution - coding silent Stomach COSM3463831 MBD6 c.2781G>A p.K927K Substitution - coding silent Skin COSM2812130 SETBP1 c.3801C>T p.G1267G Substitution - coding silent Large_intestine COSM3870947 KDM2B c.609C>T p.I203I Substitution - coding silent Skin COSM3900253 MYST3 c.751C>T p.R251* Substitution - Nonsense Stomach COSM5447074 ZMYM4 c.926-5T>A p.? Unknown Large_intestine COSM4394209 EPC2 c.919C>T p.H307Y Substitution - Missense Skin COSM1699417 TRIM24 c.2083G>A p.G695R Substitution - Missense Skin COSM5750974 SETDB1 c.3150G>T p.K1050N Substitution - Missense Stomach COSM4016605 BTAF1 c.3357T>C p.S1119S Substitution - coding silent Bone COSM4394090 LMNB2 c.1381C>T p.L461L Substitution - coding silent Skin COSM3430544 DAXX c.43G>A p.E15K Substitution - Missense Large_intestine COSM5776919 LBR c.449A>C p.Q150P Substitution - Missense Breast COSM1757177 MLL5 c.4441C>T p.H1481Y Substitution - Missense Urinary_tract COSM1200993 CHD6 c.1083T>G p.I361M Substitution - Missense Large_intestine COSM364771 KMT2C c.7894C>T p.Q2632* Substitution - Nonsense Lung COSM5907567 KMT2A c.1960C>T p.P654S Substitution - Missense Skin COSM1735107 BPTF c.5759_5760delTG p.L1920fs*49 Deletion - Frameshift Pancreas COSM41908 TET2 c.3186C>T p.V1062V Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4625708 JARID2 c.2260T>A p.F754I Substitution - Missense Large_intestine COSM94730 MSH6 c.1490G>C p.R497T Substitution - Missense Breast COSM4294411 ZGPAT c.313C>T p.P105S Substitution - Missense Skin COSM4760773 PRDM5 c.481C>A p.L161I Substitution - Missense Stomach COSM3546351 CHD6 c.7619C>T p.P2540L Substitution - Missense Skin COSM5758847 RERE c.2943G>C p.P981P Substitution - coding silent Bone COSM5748877 BAZ2B c.1291C>T p.R431W Substitution - Missense Pancreas COSM272845 KDM5A c.5042A>T p.E1681V Substitution - Missense Large_intestine COSM3657704 KIAA2026_ENST00000399933 c.1596C>T p.P532P Substitution - coding silent Skin COSM24927 HNF1A c.811C>T p.R271W Substitution - Missense Prostate COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM36205 ASXL1 c.3306G>T p.E1102D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28775 KDM6A c.3520_3521insT p.W1174fs*6 Insertion - Frameshift Large_intestine COSM43490 TET2 c.1664_1665insC p.T556fs*11 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43523 TET2 c.5605G>T p.G1869W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM51482 ARID1A c.470_486del17 p.P158fs*236 Deletion - Frameshift Ovary COSM51431 ARID1A c.805C>T p.Q269* Substitution - Nonsense Endometrium COSM87124 TET2 c.3632G>A p.C1211Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM109568 MBD5 c.1405C>T p.H469Y Substitution - Missense Skin COSM87104 TET2 c.2474C>G p.S825* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM120949 KMT2D c.15490G>A p.E5164K Substitution - Missense Endometrium COSM132728 MSH6 c.1079G>A p.S360N Substitution - Missense Central_nervous_system COSM137597 RNF17 c.1468C>T p.P490S Substitution - Missense Skin COSM144223 ATRX c.4276C>T p.R1426* Substitution - Nonsense Central_nervous_system COSM184236 ARID1A c.2077C>T p.R693* Substitution - Nonsense Endometrium COSM219711 ZMYND11 c.1076_1092del17 p.R360fs*9 Deletion - Frameshift Breast COSM220440 HDAC7 c.464C>T p.S155F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM232542 INO80C c.25G>C p.A9P Substitution - Missense Skin COSM233509 STK31 c.1092G>A p.M364I Substitution - Missense Skin COSM226778 SRCAP c.8011G>A p.D2671N Substitution - Missense Skin COSM243076 ASH1L c.3085T>G p.F1029V Substitution - Missense Prostate COSM241863 TDRD10 c.629delT p.F210fs*89 Deletion - Frameshift Prostate COSM242346 ZMYM4 c.559C>T p.H187Y Substitution - Missense Prostate COSM254540 ARID1A c.6806C>T p.S2269L Substitution - Missense Urinary_tract COSM255069 KDM6A c.3144_3144+3delAGTA p.? Unknown Urinary_tract COSM41850 TET2 c.1630C>T p.R544* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM261995 MGA c.3724C>T p.R1242* Substitution - Nonsense Endometrium COSM315860 TDRD7 c.2041G>T p.D681Y Substitution - Missense Lung COSM353789 HCFC2 c.992G>A p.S331N Substitution - Missense Lung COSM355731 BRD1 c.1991G>A p.R664K Substitution - Missense Lung COSM385663 BPTF c.3568G>C p.E1190Q Substitution - Missense Lung COSM391816 ARID2 c.2983_2984insA p.S996fs*61 Insertion - Frameshift Lung COSM426320 KDM4A c.1043C>T p.P348L Substitution - Missense Breast COSM436083 NCOR1 c.7010C>T p.S2337F Substitution - Missense Breast COSM455832 TAF1L c.760C>T p.R254* Substitution - Nonsense Skin COSM479022 TCF20 c.5566G>T p.E1856* Substitution - Nonsense Kidney COSM984424 ZBTB4 c.1368G>A p.P456P Substitution - coding silent Endometrium COSM480294 BAP1 c.67+1G>A p.? Unknown Kidney COSM674237 TRIM33 c.1227G>A p.V409V Substitution - coding silent Lung COSM940018 KMT2D c.9999G>A p.Q3333Q Substitution - coding silent Endometrium COSM726942 TCF20 c.2117G>A p.R706H Substitution - Missense Lung COSM909534 SCMH1 c.1650C>T p.H550H Substitution - coding silent Endometrium COSM909996 DMAP1 c.667G>A p.E223K Substitution - Missense Endometrium COSM947873 SETDB2 c.1126C>A p.Q376K Substitution - Missense Endometrium COSM923596 KMT2A c.8354C>A p.S2785Y Substitution - Missense Endometrium COSM1007232 MBD5 c.2604C>T p.G868G Substitution - coding silent Large_intestine COSM1041693 FXR1 c.585G>T p.K195N Substitution - Missense Endometrium COSM1045699 DHX30 c.3191+2T>C p.? Unknown Endometrium COSM970550 CREBBP c.5698C>G p.P1900A Substitution - Missense Endometrium COSM969484 CCDC101 c.178C>T p.R60C Substitution - Missense Large_intestine COSM1123035 SMC1A c.1756C>T p.R586W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1117800 MECP2 c.250C>T p.R84W Substitution - Missense Endometrium COSM1135384 KMT2D c.785_786CC>AT p.A262D Substitution - Missense Kidney COSM1099541 ASH2L c.1666G>T p.D556Y Substitution - Missense Endometrium COSM1230631 TRRAP c.7067G>T p.W2356L Substitution - Missense Large_intestine COSM2270977 ASXL1 c.2647G>T p.E883* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1205875 EYA1 c.1121T>G p.L374* Substitution - Nonsense Large_intestine COSM1211751 KDM4D c.613C>T p.H205Y Substitution - Missense Large_intestine COSM1220329 PHF10 c.1215A>C p.K405N Substitution - Missense Large_intestine COSM1158050 SETDB2 c.1930G>A p.G644R Substitution - Missense Pancreas COSM1159382 BTAF1 c.628A>G p.N210D Substitution - Missense Pancreas COSM1386336 ZBTB4 c.1305G>A p.P435P Substitution - coding silent Large_intestine COSM1404903 IDH1 c.377A>G p.K126R Substitution - Missense Large_intestine COSM1437262 NIPBL c.1801delA p.K603fs*11 Deletion - Frameshift Stomach COSM1478093 INOC1 c.241C>T p.L81F Substitution - Missense Breast COSM1488401 KMT2C c.3005G>A p.W1002* Substitution - Nonsense Breast COSM1616123 AIRE c.1194G>A p.P398P Substitution - coding silent Liver COSM1713786 DIDO1 c.1702C>T p.P568S Substitution - Missense Skin COSM1717602 KMT2D c.7390C>T p.R2464* Substitution - Nonsense Skin COSM1725549 ASH1L c.5285C>T p.P1762L Substitution - Missense Liver COSM1747321 ACTR6 c.172C>T p.L58F Substitution - Missense Urinary_tract COSM1752419 SP100 c.741C>T p.S247S Substitution - coding silent Urinary_tract COSM2051977 SMYD3 c.58G>A p.A20T Substitution - Missense Stomach COSM2156557 SMARCA2 c.667_669delCAG p.Q238delQ Deletion - In frame Large_intestine COSM2149741 SCML2 c.1883C>A p.P628H Substitution - Missense Central_nervous_system COSM2105312 KMT2A c.351G>A p.Q117Q Substitution - coding silent Ovary COSM2210652 ASH1L c.6915A>G p.G2305G Substitution - coding silent Large_intestine COSM2758153 NCOA6 c.4149T>C p.N1383N Substitution - coding silent Prostate COSM2804982 BAHCC1 c.3865C>A p.P1289T Substitution - Missense Upper_aerodigestive_tract COSM2874590 NCOA2 c.3003G>A p.T1001T Substitution - coding silent Large_intestine COSM2889529 DNMT3B c.934C>T p.R312* Substitution - Nonsense Stomach COSM3108902 GTF3C1 c.2827C>T p.L943L Substitution - coding silent Large_intestine COSM3154303 PRDM1 c.1148G>A p.G383D Substitution - Missense Central_nervous_system COSM3186016 MSH6 c.2655A>C p.K885N Substitution - Missense Large_intestine COSM3296271 EPC2 c.1000_1002delAAG p.K336delK Deletion - In frame Large_intestine COSM3341243 NSD1 c.6924C>T p.S2308S Substitution - coding silent Skin COSM3378480 ASXL3 c.1593G>A p.P531P Substitution - coding silent Pancreas COSM3434298 TDRD1 c.2402G>A p.G801E Substitution - Missense Skin COSM3514703 SMYD4 c.1088T>G p.V363G Substitution - Missense Skin COSM3657067 KIAA1045 c.297C>T p.F99F Substitution - coding silent Skin COSM3731369 ZMYM4 c.1281_1282insA p.P431fs*9 Insertion - Frameshift Large_intestine COSM3723183 PRDM10 c.2841+1G>A p.? Unknown Upper_aerodigestive_tract COSM3857061 CHD1 c.59C>T p.S20L Substitution - Missense Stomach COSM3859837 JARID2 c.2077C>T p.R693W Substitution - Missense Stomach COSM4007346 ZMYM4 c.1531A>G p.K511E Substitution - Missense Stomach COSM4035526 KAT5 c.720G>A p.P240P Substitution - coding silent Stomach COSM4122223 PHF17 c.1329T>C p.P443P Substitution - coding silent Stomach COSM4129609 NCOR1 c.568C>T p.R190* Substitution - Nonsense Upper_aerodigestive_tract COSM4417219 SND1 c.2506G>A p.G836S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4550816 HCFC1 c.4812G>A p.Q1604Q Substitution - coding silent Skin COSM4548962 ZBTB33 c.460G>C p.D154H Substitution - Missense Skin COSM4591270 KMT2C c.2512G>A p.G838S Substitution - Missense Upper_aerodigestive_tract COSM4513302 PRDM9 c.932C>T p.S311F Substitution - Missense Skin COSM4470778 LMNB2 c.1621C>T p.R541C Substitution - Missense Skin COSM4470882 MUM1 c.1686C>T p.P562P Substitution - coding silent Skin COSM4717492 PRDM16 c.3199G>A p.E1067K Substitution - Missense Large_intestine COSM4742992 ZMYND8 c.231G>A p.E77E Substitution - coding silent Large_intestine COSM4625008 PHC3 c.1417C>A p.L473M Substitution - Missense Large_intestine COSM4654220 KMT2C c.11512C>T p.P3838S Substitution - Missense Large_intestine COSM4766133 TBL1XR1 c.686C>G p.T229R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4777698 NCOA2 c.541delG p.V181fs*1 Deletion - Frameshift Prostate COSM4922807 SETBP1 c.4771G>C p.E1591Q Substitution - Missense Liver COSM4829874 NIPBL c.776G>C p.G259A Substitution - Missense Cervix COSM4969815 ATRX c.3006A>C p.V1002V Substitution - coding silent Central_nervous_system COSM4998389 CHD1 c.2181-2delA p.? Unknown Pancreas COSM5016708 SMARCA1 c.2236_2242delATTGAAC p.I746fs*64 Deletion - Frameshift Kidney COSM5064905 BRWD3 c.3488C>T p.A1163V Substitution - Missense Stomach COSM5068428 CDYL c.1168G>T p.V390L Substitution - Missense Large_intestine COSM5045264 PHF17 c.2440A>T p.S814C Substitution - Missense Oesophagus COSM5038877 BAZ2A c.4201G>T p.A1401S Substitution - Missense Liver COSM5374675 EP400 c.5134G>A p.E1712K Substitution - Missense Skin COSM5371763 KMT2A c.864G>A p.G288G Substitution - coding silent Skin COSM5416069 CHD2 c.3797A>T p.D1266V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5378671 TDRD5 c.1767C>T p.I589I Substitution - coding silent Skin COSM5498243 PHF23 c.608G>A p.R203Q Substitution - Missense Biliary_tract COSM5433390 HDAC1 c.1104G>A p.E368E Substitution - coding silent Oesophagus COSM5626661 BAHD1 c.1959G>A p.W653* Substitution - Nonsense Oesophagus COSM5576260 TRIM24 c.3115C>T p.R1039C Substitution - Missense Stomach COSM5633356 MINA c.664C>A p.H222N Substitution - Missense Oesophagus COSM5648761 MBD5 c.4437C>T p.D1479D Substitution - coding silent Oesophagus COSM5736782 ZBTB38 c.632A>G p.E211G Substitution - Missense Small_intestine COSM5599022 ACTR5 c.312C>T p.V104V Substitution - coding silent Skin COSM5587305 BRWD3 c.2482G>A p.E828K Substitution - Missense Skin COSM5614434 NCOR1 c.5590C>T p.Q1864* Substitution - Nonsense Lung COSM5696258 ING3 c.464A>G p.H155R Substitution - Missense Soft_tissue COSM5574170 ARID1A c.3488C>T p.P1163L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5554640 PBRM1 c.4305A>T p.G1435G Substitution - coding silent Prostate COSM5945419 ASXL1 c.2473A>T p.K825* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5945532 ATRX c.2818G>A p.A940T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5891188 PHF20 c.94C>T p.H32Y Substitution - Missense Skin COSM5893824 INOC1 c.1639C>T p.L547F Substitution - Missense Skin COSM5908769 KMT2C c.2258C>T p.S753L Substitution - Missense Skin COSM5892528 BRDT c.997G>A p.D333N Substitution - Missense Skin COSM6007415 KMT2C c.8923G>C p.V2975L Substitution - Missense Prostate COSM5976167 MLL5 c.3600C>G p.A1200A Substitution - coding silent Upper_aerodigestive_tract COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM1169633 PBRM1 c.? p.? Unknown Kidney COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4169710 DAXX c.? p.A47fs*92 Unknown Adrenal_gland COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4412522 EZH1 c.1811A>G p.N604S Substitution - Missense Oesophagus COSM53293 SMARCB1 c.629_986del358 p.? Unknown Central_nervous_system COSM1183582 ARID4A c.1446G>T p.K482N Substitution - Missense Large_intestine COSM5967238 EZH2 c.? p.G660R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4108017 MECP2 c.808C>T p.R270* Substitution - Nonsense Stomach COSM1696938 JARID2 c.1499A>C p.K500T Substitution - Missense Skin COSM5743089 HDAC3 c.290T>C p.F97S Substitution - Missense Small_intestine COSM1749386 CHD2 c.2142A>T p.E714D Substitution - Missense Urinary_tract COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM1306904 SMEK2 c.853G>C p.E285Q Substitution - Missense Urinary_tract COSM1071542 CHD1 c.4721G>T p.R1574I Substitution - Missense Large_intestine COSM1443802 PHF1 c.600A>C p.K200N Substitution - Missense Large_intestine COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Central_nervous_system COSM1749123 INOC1 c.3827A>T p.K1276M Substitution - Missense Urinary_tract COSM5803018 KDM5C c.4587G>A p.A1529A Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM465102 MTF2 c.683A>G p.E228G Substitution - Missense Kidney COSM1750541 CXXC1 c.413C>T p.S138L Substitution - Missense Urinary_tract COSM4656198 CHD2 c.4006G>A p.E1336K Substitution - Missense Large_intestine COSM2154353 PRDM16 c.1113C>A p.C371* Substitution - Nonsense Central_nervous_system COSM307765 TET2 c.? p.Q1445* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1018321 TET2 c.291_294delAGTT p.S99fs*13 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM362945 PHF20 c.1665C>T p.C555C Substitution - coding silent Lung COSM4803367 BRPF3 c.2038G>C p.V680L Substitution - Missense Liver COSM1714420 EP300 c.2590C>T p.P864S Substitution - Missense Skin COSM985856 BAHCC1 c.6036C>A p.P2012P Substitution - coding silent Endometrium COSM1749123 INOC1 c.3827A>T p.K1276M Substitution - Missense Urinary_tract COSM43504 TET2 c.2290_2291insC p.Q764fs*5 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5609414 KMT2A c.990C>T p.S330S Substitution - coding silent Skin COSM4493044 DPF2 c.408C>T p.P136P Substitution - coding silent Skin COSM1363140 BAZ2A_ENST00000379441 c.2313delA p.V772fs*9 Deletion - Frameshift Large_intestine COSM132973 ASXL1 c.? p.S903* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1355070 PHRF1 c.1935G>A p.A645A Substitution - coding silent Stomach COSM4590120 KDM4B c.2128A>G p.K710E Substitution - Missense Upper_aerodigestive_tract COSM2176169 SETD1B c.1441C>T p.R481C Substitution - Missense Large_intestine COSM5006295 BAZ1B c.1140T>C p.T380T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM961213 BAHD1 c.1648C>T p.R550C Substitution - Missense Endometrium COSM5028405 SMCHD1 c.1702G>C p.D568H Substitution - Missense Breast COSM1159268 ARID1A c.6227_6228insC p.E2078fs*21 Insertion - Frameshift Pancreas COSM1741040 NCOR1 c.5153_5164del12 p.R1718_K1722>Q Complex - deletion inframe Haematopoietic_and_lymphoid_tissue COSM1736827 ASH1L c.8605G>A p.A2869T Substitution - Missense Central_nervous_system COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4630885 PBRM1 c.4162C>T p.L1388L Substitution - coding silent Large_intestine COSM3952566 EHMT1 c.3476G>T p.R1159L Substitution - Missense Lung COSM199116 CHD1 c.3566G>A p.R1189Q Substitution - Missense Large_intestine COSM5075578 KMT2C c.2749G>A p.G917R Substitution - Missense Kidney COSM1236625 EP300 c.2692C>T p.Q898* Substitution - Nonsense Autonomic_ganglia COSM1495085 CHD6 c.5487T>C p.L1829L Substitution - coding silent Kidney COSM5708582 TBL1XR1 c.971C>T p.S324F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3794130 INOC1 c.3033T>C p.C1011C Substitution - coding silent Urinary_tract COSM1315519 KDM6A c.3579G>A p.W1193* Substitution - Nonsense Urinary_tract COSM446634 SMARCC1 c.1554T>C p.D518D Substitution - coding silent Breast COSM4717881 PRMT5 c.1772C>T p.T591M Substitution - Missense Large_intestine COSM2112139 PRMT3 c.596T>C p.V199A Substitution - Missense Large_intestine COSM720952 HDAC4 c.2223G>A p.S741S Substitution - coding silent Lung COSM41292 IDH1 c.? p.R132G Substitution - Missense Bone COSM1469225 TAF1 c.3989T>G p.I1330S Substitution - Missense Large_intestine COSM5722738 ASXL3 c.544G>A p.E182K Substitution - Missense Skin COSM3412592 ZCWPW1 c.1885G>A p.G629R Substitution - Missense Central_nervous_system COSM1755061 SND1 c.1685G>A p.R562K Substitution - Missense Urinary_tract COSM389808 BRDT c.17G>A p.R6Q Substitution - Missense Skin COSM5452801 EP400 c.5934A>G p.K1978K Substitution - coding silent Large_intestine COSM5582577 SMARCA4 c.2512C>T p.P838S Substitution - Missense Skin COSM1630066 NCOR1 c.515C>T p.S172L Substitution - Missense Upper_aerodigestive_tract COSM166346 DNMT3A c.? p.?fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4794523 TAF1 c.1032G>A p.G344G Substitution - coding silent Liver COSM4428500 KMT2D c.1729G>T p.E577* Substitution - Nonsense Oesophagus COSM221050 KMT2D c.7276C>T p.Q2426* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM468038 EP400 c.8229G>A p.Q2743Q Substitution - coding silent Pancreas COSM3678173 BAHD1 c.680G>A p.R227H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5879000 TET2 c.3069_3081del13 p.S1023fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM87001 DNMT3A c.2644C>A p.R882S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM195396 PRDM14 c.1514G>A p.R505H Substitution - Missense Large_intestine COSM5893065 NSD1 c.3132C>A p.N1044K Substitution - Missense Skin COSM5659906 KDM2B c.877-3C>G p.? Unknown Soft_tissue COSM4611398 ZMYM2 c.3124delA p.K1044fs*33 Deletion - Frameshift Stomach COSM4162024 KMT2C c.946A>T p.T316S Substitution - Missense Upper_aerodigestive_tract COSM3690996 CREBBP c.5796G>T p.T1932T Substitution - coding silent Large_intestine COSM4384164 MLL5 c.5162C>T p.P1721L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1629026 RNF17 c.1326A>C p.K442N Substitution - Missense Liver COSM5440821 BTAF1 c.265G>A p.E89K Substitution - Missense Oesophagus COSM1326484 IDH1 c.13A>G p.I5V Substitution - Missense Ovary COSM1739604 TDRD7 c.685T>C p.S229P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5024820 ARID2 c.3568G>T p.G1190* Substitution - Nonsense Large_intestine COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5808005 CREBBP c.663A>T p.G221G Substitution - coding silent Liver COSM4043553 SMARCC2 c.101A>G p.N34S Substitution - Missense Stomach COSM487512 KDM4C c.2250G>A p.A750A Substitution - coding silent Stomach COSM254613 CHD6 c.3404G>A p.R1135H Substitution - Missense Skin COSM81699 SFMBT2 c.1671G>C p.P557P Substitution - coding silent Ovary COSM894187 TRIM33 c.1053A>G p.V351V Substitution - coding silent Endometrium COSM246967 RBBP7 c.482-1G>C p.? Unknown Prostate COSM1361286 PRMT8 c.898C>T p.R300C Substitution - Missense Large_intestine COSM5008563 KMT2C c.707C>T p.A236V Substitution - Missense Large_intestine COSM3958884 CBX2 c.463G>A p.E155K Substitution - Missense Lung COSM5930937 MBD5 c.3578C>T p.S1193F Substitution - Missense Skin COSM5959629 HDAC6 c.3600C>A p.N1200K Substitution - Missense Thyroid COSM4849250 BPTF c.542A>G p.D181G Substitution - Missense Cervix COSM1114035 ZBTB33 c.1701A>G p.S567S Substitution - coding silent Endometrium COSM4595785 SP110 c.734C>T p.P245L Substitution - Missense Upper_aerodigestive_tract COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM95880 KDM2A c.3009C>G p.L1003L Substitution - coding silent Lung COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1334659 ASH1L c.3760C>T p.R1254C Substitution - Missense Large_intestine COSM3671775 DMAP1 c.219C>A p.P73P Substitution - coding silent Prostate COSM414761 RERE c.748T>G p.F250V Substitution - Missense Urinary_tract COSM4186223 SETD8 c.464A>C p.Q155P Substitution - Missense Thyroid COSM1184474 BAZ1A c.1590G>A p.W530* Substitution - Nonsense Prostate COSM4884690 INOC1 c.4550C>A p.P1517H Substitution - Missense Upper_aerodigestive_tract COSM917335 ZMYND11 c.258T>C p.C86C Substitution - coding silent Endometrium COSM216212 SMC1A c.2369G>A p.R790Q Substitution - Missense Central_nervous_system COSM288777 SETD5_ENST00000402198 c.3716A>G p.Y1239C Substitution - Missense Large_intestine COSM166852 TRIM24 c.2728C>T p.R910C Substitution - Missense Large_intestine COSM5615408 GABRG1 c.753C>A p.H251Q Substitution - Missense Lung COSM171921 KAT2B c.2044C>T p.R682* Substitution - Nonsense Large_intestine COSM3751640 PWWP2B c.265C>T p.R89C Substitution - Missense Large_intestine COSM5811928 SMARCC2 c.3374T>A p.F1125Y Substitution - Missense Liver COSM3596183 PBRM1 c.3185G>A p.R1062Q Substitution - Missense Skin COSM207998 MECOM c.1839delA p.G614fs*30 Deletion - Frameshift Large_intestine COSM4591210 PRDM14 c.187G>C p.A63P Substitution - Missense Upper_aerodigestive_tract COSM4388641 KMT2C c.162-4G>T p.? Unknown Pancreas COSM4793490 KAT6B c.3954G>T p.L1318L Substitution - coding silent Liver COSM4152220 PSIP1 c.185C>G p.S62* Substitution - Nonsense Ovary COSM4799502 DNMT3L c.498C>T p.A166A Substitution - coding silent Liver COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1026850 CHD6 c.6240A>G p.L2080L Substitution - coding silent Endometrium COSM4848538 TAF1L c.4158G>C p.L1386F Substitution - Missense Cervix COSM6013006 SMARCD3 c.16C>A p.Q6K Substitution - Missense Skin COSM908616 ZMYM6 c.1578A>T p.P526P Substitution - coding silent Endometrium COSM3921879 TDRD6 c.1824G>T p.L608F Substitution - Missense Skin COSM1018638 HDAC4 c.847C>T p.R283C Substitution - Missense Endometrium COSM3189300 EZH1 c.961C>T p.R321C Substitution - Missense Biliary_tract COSM5945628 PHF6 c.903C>G p.Y301* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM2041346 KDM2A c.800G>A p.R267H Substitution - Missense Large_intestine COSM4851130 BRPF1 c.158C>A p.P53Q Substitution - Missense Cervix COSM3716082 EYA1 c.948C>T p.P316P Substitution - coding silent Upper_aerodigestive_tract COSM1583117 DNMT3A c.2189_2191delTCT p.F731del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM1965081 KAT6B c.1091A>G p.N364S Substitution - Missense Upper_aerodigestive_tract COSM1027546 NCOA3 c.3786G>A p.Q1262Q Substitution - coding silent Large_intestine COSM3987938 INOC1 c.415G>T p.D139Y Substitution - Missense Kidney COSM1698015 EYA4 c.755A>T p.Y252F Substitution - Missense Skin COSM5451716 FXR1 c.1243C>T p.R415C Substitution - Missense Large_intestine COSM5690372 SETBP1 c.930G>T p.G310G Substitution - coding silent Soft_tissue COSM743055 PHIP c.3520C>A p.Q1174K Substitution - Missense Lung COSM5384751 SRCAP c.4030_4031CC>TT p.P1344L Substitution - Missense Skin COSM1686756 L3MBTL4 c.784+1G>A p.? Unknown Skin COSM720950 HDAC4 c.1237C>G p.L413V Substitution - Missense Lung COSM5606937 POGZ c.1417T>A p.Y473N Substitution - Missense Skin COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4405566 PRDM7 c.155T>A p.L52H Substitution - Missense Skin COSM3637553 STK31 c.2172G>A p.M724I Substitution - Missense Skin COSM1580621 BTAF1 c.244A>C p.T82P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1433385 KDM3B c.4626C>T p.N1542N Substitution - coding silent Large_intestine COSM4694863 KDM1B c.176C>T p.T59M Substitution - Missense Large_intestine COSM3758571 CHD6 c.7284T>C p.T2428T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM110236 MYST3 c.1069C>T p.R357* Substitution - Nonsense Skin COSM5426235 ZMYM1 c.217G>A p.V73M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5671324 SMARCA5 c.584A>G p.Y195C Substitution - Missense Soft_tissue COSM3771707 ARID1A c.532A>T p.S178C Substitution - Missense Pancreas COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3770673 SMARCA1 c.1254delG p.L419fs*1 Deletion - Frameshift Soft_tissue COSM5499328 SETBP1 c.1974G>A p.L658L Substitution - coding silent Biliary_tract COSM138769 KAT6B c.3154C>T p.R1052W Substitution - Missense Skin COSM1342117 ZMYM1 c.2365C>T p.R789* Substitution - Nonsense Large_intestine COSM4385394 KDM6A c.3937G>A p.A1313T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4775065 KMT2D c.4432G>T p.G1478W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5431763 SUV420H2 c.1216C>A p.L406I Substitution - Missense Oesophagus COSM3357385 PHF6 c.374+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4002747 PBRM1 c.3597A>T p.P1199P Substitution - coding silent Soft_tissue COSM3627953 TDRD6 c.1853C>T p.S618F Substitution - Missense Skin COSM4168313 KDM6A c.3338_3342delTATCA p.V1113fs*36 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1034751 TCF20 c.5842G>A p.A1948T Substitution - Missense Endometrium COSM4032784 ALKBH3 c.475C>T p.R159C Substitution - Missense Stomach COSM3724480 ARID2 c.1517C>T p.A506V Substitution - Missense Large_intestine COSM3948480 SRCAP c.1013C>T p.S338F Substitution - Missense Ovary COSM463140 LMNA c.1444C>T p.R482W Substitution - Missense Large_intestine COSM5708590 TBL1XR1 c.847A>C p.S283R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4625109 DHX30 c.571G>T p.E191* Substitution - Nonsense Large_intestine COSM988392 SETBP1 c.3789C>A p.Y1263* Substitution - Nonsense Endometrium COSM4974227 SFMBT2 c.583C>T p.Q195* Substitution - Nonsense Oesophagus COSM3458241 EP400 c.4457C>T p.A1486V Substitution - Missense Skin COSM702815 GTF3C1 c.1303G>T p.E435* Substitution - Nonsense Lung COSM439079 DOT1L c.137A>G p.E46G Substitution - Missense Breast COSM4817709 TDRD10 c.612C>T p.V204V Substitution - coding silent Cervix COSM3875092 PHF3 c.5619A>G p.S1873S Substitution - coding silent Stomach COSM991723 MUM1 c.1125T>G p.S375S Substitution - coding silent Endometrium COSM972479 CTCF c.895_896delTG p.C299fs*15 Deletion - Frameshift Endometrium COSM3782730 KMT2D c.6779C>T p.T2260I Substitution - Missense Prostate COSM1047215 SFMBT1 c.2000G>T p.R667M Substitution - Missense Endometrium COSM1034987 PHF21B c.1167C>T p.G389G Substitution - coding silent Endometrium COSM5052558 TDRKH c.933C>T p.Y311Y Substitution - coding silent Stomach COSM5064013 KIAA2026_ENST00000399933 c.2295delT p.I766fs*11 Deletion - Frameshift Stomach COSM255213 MEN1 c.1621A>G p.T541A Substitution - Missense Soft_tissue COSM4767384 TET2 c.5551G>A p.E1851K Substitution - Missense Breast COSM138557 BRPF3 c.2602C>G p.P868A Substitution - Missense Skin COSM5611086 TRRAP c.2580C>T p.F860F Substitution - coding silent Skin COSM4008297 KDM4A c.1468G>A p.V490M Substitution - Missense Stomach COSM218404 ARID2 c.940C>A p.R314S Substitution - Missense Pancreas COSM4689705 HDAC7 c.1130G>A p.R377H Substitution - Missense Large_intestine COSM3364683 DNMT3A c.449-1G>A p.? Unknown Kidney COSM742771 TDRD6 c.577G>T p.E193* Substitution - Nonsense Lung COSM4959175 JHDM1D c.2187C>T p.S729S Substitution - coding silent Liver COSM4580568 DNMT1 c.3912C>T p.Y1304Y Substitution - coding silent Bone COSM1018609 ATAD2B_ENST00000238789 c.3392C>A p.A1131E Substitution - Missense Endometrium COSM3950199 KMT2C c.13433G>C p.R4478P Substitution - Missense Lung COSM3322590 PHF19 c.1199T>G p.L400R Substitution - Missense Large_intestine COSM420181 SMARCA5 c.2899G>C p.E967Q Substitution - Missense Urinary_tract COSM334282 EYA3 c.572G>A p.S191N Substitution - Missense Lung COSM274975 EP300 c.1739G>A p.R580Q Substitution - Missense Endometrium COSM4015550 SFMBT2 c.541G>T p.G181C Substitution - Missense Stomach COSM5958085 NCOR1 c.1755C>T p.I585I Substitution - coding silent Thyroid COSM3381144 HDAC3 c.315G>A p.S105S Substitution - coding silent Pancreas COSM3906588 SMARCA2 c.3879G>T p.R1293S Substitution - Missense Stomach COSM3916745 SETD5_ENST00000402198 c.968C>T p.P323L Substitution - Missense Skin COSM3777504 EHMT2 c.2181G>A p.V727V Substitution - coding silent Urinary_tract COSM1619518 BRD8 c.2221G>A p.A741T Substitution - Missense Liver COSM1193463 INTS12 c.1324C>G p.L442V Substitution - Missense Lung COSM321602 MBD5 c.1705C>T p.H569Y Substitution - Missense Lung COSM4792958 PRDM2 c.682C>A p.Q228K Substitution - Missense Liver COSM4669283 CARM1 c.1692C>T p.S564S Substitution - coding silent Large_intestine COSM1587013 ZMYM2 c.4094A>G p.Y1365C Substitution - Missense Endometrium COSM4414787 INO80B c.949T>A p.C317S Substitution - Missense Kidney COSM1463735 PHF2 c.2850_2851insA p.S954fs*9 Insertion - Frameshift Large_intestine COSM5560397 SETD5_ENST00000402198 c.1089G>C p.M363I Substitution - Missense Prostate COSM1032622 SMARCB1 c.464G>A p.R155H Substitution - Missense Endometrium COSM3637085 HDAC9 c.2926C>T p.L976L Substitution - coding silent Skin COSM1018607 ATAD2B_ENST00000238789 c.3652G>A p.G1218R Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5986655 KMT2D c.14812delG p.V4938fs*35 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM685258 TAF3 c.1551C>A p.S517S Substitution - coding silent Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM74135 CHD6 c.3865G>A p.V1289M Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5051560 PRMT8 c.649G>A p.D217N Substitution - Missense Stomach COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4422907 PHRF1 c.3059_3060delCG p.R1021fs*2 Deletion - Frameshift Kidney COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5482413 KDM2A c.2280G>T p.R760R Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3923405 STK31 c.514G>A p.E172K Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM4961351 CREBBP c.6292G>A p.A2098T Substitution - Missense Liver COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5653699 ATF7IP c.2581G>C p.A861P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4393089 HCFC1 c.1974C>T p.S658S Substitution - coding silent Prostate COSM3871732 KMT2D c.6753C>T p.S2251S Substitution - coding silent Skin COSM4399765 ARID2 c.1468C>T p.Q490* Substitution - Nonsense Skin COSM4068911 BPTF c.2169C>T p.R723R Substitution - coding silent Stomach COSM3742095 NCOR1 c.4353G>T p.V1451V Substitution - coding silent Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Prostate COSM121227 MTA2 c.435C>T p.G145G Substitution - coding silent Upper_aerodigestive_tract COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM2965393 KDM6A c.2421T>C p.V807V Substitution - coding silent Upper_aerodigestive_tract COSM3733037 NIPBL c.3227G>A p.R1076H Substitution - Missense Stomach COSM5005869 PHF12 c.2359+10T>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4776467 CHD7 c.5532C>T p.D1844D Substitution - coding silent Soft_tissue COSM22572 MEN1 c.? p.R415* Substitution - Nonsense Pancreas COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM1245912 BAHCC1 c.3198C>T p.G1066G Substitution - coding silent Stomach COSM30432 ATF7IP c.3726A>C p.A1242A Substitution - coding silent Lung COSM751065 CHD7 c.3142G>T p.G1048W Substitution - Missense Lung COSM1074176 SHPRH c.4823C>T p.P1608L Substitution - Missense Endometrium COSM4617559 SETD3 c.677C>T p.T226I Substitution - Missense Large_intestine COSM4472832 ADNP c.1809C>T p.I603I Substitution - coding silent Skin COSM331743 ATF7IP c.2233G>A p.G745S Substitution - Missense Lung COSM3091651 SMARCA2 c.1375G>T p.A459S Substitution - Missense Large_intestine COSM133020 ARID1A c.969_975delGGGCGCC p.G324fs*37 Deletion - Frameshift Stomach COSM1122207 HDAC6 c.3542C>T p.A1181V Substitution - Missense Endometrium COSM4590631 GLYR1 c.1377C>G p.H459Q Substitution - Missense Upper_aerodigestive_tract COSM3420094 SMEK1 c.114G>A p.M38I Substitution - Missense Large_intestine COSM5903752 KAT6B c.635C>T p.P212L Substitution - Missense Skin COSM3665282 TRRAP c.2466G>A p.P822P Substitution - coding silent Oesophagus COSM1490471 SMARCA1 c.126G>A p.A42A Substitution - coding silent Thyroid COSM1181719 ACTL6B c.258G>T p.K86N Substitution - Missense Large_intestine COSM4410851 SUV39H2 c.634delA p.R213fs*2 Deletion - Frameshift Kidney COSM451826 PHIP c.2887G>A p.E963K Substitution - Missense Breast COSM1100916 CHD7 c.8627C>A p.A2876D Substitution - Missense Endometrium COSM3738481 TET2 c.? p.P1741fs*4 Frameshift Haematopoietic_and_lymphoid_tissue COSM3995649 ACTB c.515C>G p.P172R Substitution - Missense Kidney COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Biliary_tract COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Bone COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1002 SMARCB1 c.118C>T p.R40* Substitution - Nonsense Central_nervous_system COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM39640 PHIP c.737A>G p.D246G Substitution - Missense Central_nervous_system COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51240 ARID1A c.3442_3442delC p.Q1148fs*13 Deletion - Frameshift Ovary COSM100067 TET2 c.783_783delC p.C262fs*31 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM87112 TET2 c.2896C>T p.Q966* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM96417 CREBBP c.567delC p.N190fs*8 Deletion - Frameshift Ovary COSM131501 ASXL1 c.3574G>T p.E1192* Substitution - Nonsense Liver COSM145384 EYA1 c.356A>T p.Q119L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM166527 DNMT3A c.2726T>G p.F909C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM163705 PRDM10 c.997G>A p.V333M Substitution - Missense Breast COSM166409 CREBBP c.4448T>C p.I1483T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM179762 SFMBT2 c.960G>A p.A320A Substitution - coding silent Stomach COSM201010 ING1 c.586C>T p.R196* Substitution - Nonsense Large_intestine COSM224951 KMT2C c.2170A>T p.K724* Substitution - Nonsense Skin COSM254538 ARID1A c.5975C>G p.S1992* Substitution - Nonsense Urinary_tract COSM269878 PHF14 c.1154G>A p.C385Y Substitution - Missense Large_intestine COSM285194 SMARCA2 c.232G>A p.D78N Substitution - Missense Large_intestine COSM301622 ACTB c.284G>A p.R95H Substitution - Missense Salivary_gland COSM297202 PRDM2 c.4459delA p.V1490fs*74 Deletion - Frameshift Stomach COSM313088 KAT6B c.3358G>T p.A1120S Substitution - Missense Lung COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Upper_aerodigestive_tract COSM337225 SFMBT2 c.429G>T p.P143P Substitution - coding silent Lung COSM354704 MBD6 c.2534T>G p.V845G Substitution - Missense Lung COSM354861 NCOA6 c.5845C>G p.L1949V Substitution - Missense Lung COSM352256 TAF1L c.2062C>G p.Q688E Substitution - Missense Lung COSM381066 STK31 c.2692G>C p.E898Q Substitution - Missense Lung COSM438456 DNMT1 c.3792C>A p.L1264L Substitution - coding silent Breast COSM484586 MLL5 c.5037A>C p.P1679P Substitution - coding silent Large_intestine COSM488568 ZMYM3 c.2269C>A p.Q757K Substitution - Missense Kidney COSM954432 CHD8 c.4257C>A p.F1419L Substitution - Missense Endometrium COSM757660 ZMYM3 c.2384C>G p.T795S Substitution - Missense Lung COSM713329 KDM4B c.689G>T p.G230V Substitution - Missense Lung COSM711659 DPF1 c.280C>A p.P94T Substitution - Missense Lung COSM1692148 SP140 c.382G>A p.E128K Substitution - Missense Skin COSM908622 ZMYM6 c.1101G>A p.A367A Substitution - coding silent Endometrium COSM895815 POGZ c.2235-1G>T p.? Unknown Endometrium COSM923589 KMT2A c.6827A>C p.K2276T Substitution - Missense Endometrium COSM1009561 HAT1 c.294C>A p.N98K Substitution - Missense Endometrium COSM969213 JMJD5 c.993+1G>T p.? Unknown Endometrium COSM1066275 NSD1 c.5043C>A p.I1681I Substitution - coding silent Endometrium COSM969937 SRCAP c.5936T>C p.V1979A Substitution - Missense Endometrium COSM1117717 HCFC1 c.4539G>T p.E1513D Substitution - Missense Endometrium COSM1123264 PHF8 c.2700G>A p.L900L Substitution - coding silent Endometrium COSM1602786 BRDT c.1610T>C p.I537T Substitution - Missense Liver COSM1085991 TRIM24 c.1296A>G p.P432P Substitution - coding silent Endometrium COSM1085992 TIF1 c.1296A>G p.P432P Substitution - coding silent Endometrium COSM1230821 TTF2 c.2198G>A p.R733Q Substitution - Missense Large_intestine COSM1196570 GTF3C4 c.1468G>A p.A490T Substitution - Missense Lung COSM1205371 EP300 c.1811G>A p.R604Q Substitution - Missense Large_intestine COSM1168732 KAT5 c.1115A>T p.Y372F Substitution - Missense Pancreas COSM1179206 TRIM24 c.2502C>T p.N834N Substitution - coding silent Prostate COSM1188162 TRIM66 c.732G>A p.W244* Substitution - Nonsense Lung COSM1301117 MGA c.7141G>C p.D2381H Substitution - Missense Urinary_tract COSM1285707 KDM6A c.3904C>T p.Q1302* Substitution - Nonsense Autonomic_ganglia COSM1292287 EHMT2 c.1465G>T p.V489F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1334648 ASH1L c.7116delA p.K2372fs*5 Deletion - Frameshift Large_intestine COSM1377533 SETD1A c.3039G>A p.S1013S Substitution - coding silent Large_intestine COSM1383601 HDAC5 c.1722G>T p.E574D Substitution - Missense Large_intestine COSM1436267 NSD1 c.4001C>A p.S1334Y Substitution - Missense Large_intestine COSM1342101 ZMYM6 c.2209delA p.R737fs*2 Deletion - Frameshift Large_intestine COSM1342130 ZMYM4 c.1885T>C p.S629P Substitution - Missense Large_intestine COSM1348900 SFMBT2 c.1288G>A p.V430I Substitution - Missense Upper_aerodigestive_tract COSM1559267 TRIM33 c.157G>C p.A53P Substitution - Missense Central_nervous_system COSM1485450 ATXN7 c.1916G>C p.C639S Substitution - Missense Breast COSM1609323 CREBBP c.1460C>A p.A487D Substitution - Missense Liver COSM1624024 MYST3 c.3401A>G p.K1134R Substitution - Missense Liver COSM1690722 INO80B c.337G>A p.D113N Substitution - Missense Skin COSM1737945 TET2 c.3809_3810insC p.C1271fs*29 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1729231 KDM3A c.2242A>T p.K748* Substitution - Nonsense Liver COSM1726358 TRIM66 c.2306G>A p.G769E Substitution - Missense Liver COSM1753137 KAT2B c.309G>A p.E103E Substitution - coding silent Urinary_tract COSM1731937 ARID1B c.165_166insCAG p.Q73_H74insQ Insertion - In frame Upper_aerodigestive_tract COSM1742429 AP001011.3_ENST00000320876 c.1765delC p.P589fs*14 Deletion - Frameshift Urinary_tract COSM42037 TET2 c.4210C>T p.R1404* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1965084 KAT6B c.1180G>C p.D394H Substitution - Missense Upper_aerodigestive_tract COSM2001170 EP400 c.8754G>A p.Q2918Q Substitution - coding silent Large_intestine COSM2080391 ZMYM4 c.4609G>T p.A1537S Substitution - Missense Large_intestine COSM2149842 PRMT8 c.251G>T p.G84V Substitution - Missense Central_nervous_system COSM2828730 SETD5_ENST00000402198 c.261A>G p.E87E Substitution - coding silent Upper_aerodigestive_tract COSM2879333 CXXC1 c.598C>T p.R200W Substitution - Missense Large_intestine COSM2911453 NCOA1 c.3086G>A p.R1029Q Substitution - Missense Large_intestine COSM3353991 CDYL c.1541C>T p.A514V Substitution - Missense Large_intestine COSM3388487 L3MBTL4 c.740T>A p.V247D Substitution - Missense Pancreas COSM3509571 CREBBP c.258A>T p.I86I Substitution - coding silent Skin COSM3508916 SRCAP c.7161C>T p.A2387A Substitution - coding silent Skin COSM3508984 SETD1A c.2585C>T p.S862F Substitution - Missense Skin COSM3501114 MGA c.8066C>A p.P2689Q Substitution - Missense Skin COSM3417255 PHC1 c.2929G>T p.E977* Substitution - Nonsense Large_intestine COSM3450530 PHRF1 c.1392C>T p.S464S Substitution - coding silent Skin COSM3471967 TTF2 c.2794T>G p.L932V Substitution - Missense Skin COSM3454100 EED c.1110G>A p.M370I Substitution - Missense Skin COSM3620517 L3MBTL3 c.852C>T p.L284L Substitution - coding silent Skin COSM3633860 TRIM24 c.2312C>T p.S771F Substitution - Missense Skin COSM3590009 PHC3 c.2375+2T>C p.? Unknown Skin COSM3650669 PRDM14 c.1183G>T p.E395* Substitution - Nonsense Skin COSM3667124 ATF7IP c.552G>A p.V184V Substitution - coding silent Liver COSM3794755 CCDC101 c.592G>C p.E198Q Substitution - Missense Breast COSM3809832 MTA2 c.1913T>G p.V638G Substitution - Missense Breast COSM3792914 CHD4 c.2309A>G p.K770R Substitution - Missense Urinary_tract COSM3825898 GABRG1 c.450C>G p.F150L Substitution - Missense Breast COSM3830134 EHMT2 c.2909A>C p.H970P Substitution - Missense Breast COSM3828658 CHD1 c.1135G>A p.E379K Substitution - Missense Breast COSM3834646 ASH2L c.1762G>A p.D588N Substitution - Missense Breast COSM4043885 MBD6 c.927G>A p.T309T Substitution - coding silent Stomach COSM4098972 NCOA5 c.1362G>A p.S454S Substitution - coding silent Stomach COSM4093135 ING5 c.80T>A p.L27Q Substitution - Missense Stomach COSM4097814 NCOA6 c.828G>A p.Q276Q Substitution - coding silent Large_intestine COSM4096124 KDM3A c.1590C>T p.F530F Substitution - coding silent Stomach COSM4121129 TET2 c.1532A>G p.H511R Substitution - Missense Stomach COSM4162018 KMT2C c.2315C>T p.S772L Substitution - Missense Skin COSM4382257 CDYL c.74C>T p.T25I Substitution - Missense Large_intestine COSM4379280 KDM6A c.1792A>G p.I598V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM42014 TET2 c.5500C>T p.Q1834* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4598704 SFMBT2 c.876C>A p.H292Q Substitution - Missense Upper_aerodigestive_tract COSM4440552 SMARCA4 c.4776C>T p.S1592S Substitution - coding silent Skin COSM4589429 PHF16 c.2076T>C p.P692P Substitution - coding silent Bone COSM4580995 DPF1 c.876C>T p.N292N Substitution - coding silent Large_intestine COSM4591270 KMT2C c.2512G>A p.G838S Substitution - Missense Large_intestine COSM4592047 AKAP1 c.1597A>C p.T533P Substitution - Missense Upper_aerodigestive_tract COSM4454872 CHD9 c.6002A>G p.Y2001C Substitution - Missense Skin COSM4694908 KDM2B c.713C>T p.A238V Substitution - Missense Large_intestine COSM4713996 PHF21A c.1339G>A p.V447I Substitution - Missense Large_intestine COSM4607052 TRIM28 c.542A>G p.H181R Substitution - Missense Adrenal_gland COSM4641531 MEN1 c.1395C>T p.A465A Substitution - coding silent Large_intestine COSM4615076 TAF1 c.1930delA p.K646fs*4 Deletion - Frameshift Large_intestine COSM4611655 HDAC2 c.33delA p.V12fs*20 Deletion - Frameshift Pancreas COSM4629847 TRIM66 c.3623G>T p.R1208L Substitution - Missense Large_intestine COSM4753634 MGA c.1507G>A p.A503T Substitution - Missense Stomach COSM4800074 MSH6 c.2588A>C p.E863A Substitution - Missense Liver COSM4933207 SETDB1 c.87G>A p.V29V Substitution - coding silent Liver COSM4936158 DOT1L c.2508G>A p.G836G Substitution - coding silent Liver COSM4838269 CHD8 c.169G>A p.D57N Substitution - Missense Cervix COSM4824766 ACTR5 c.491G>A p.G164E Substitution - Missense Cervix COSM4969188 SMARCA4 c.1538G>A p.R513Q Substitution - Missense Central_nervous_system COSM4971715 ACTB c.453C>T p.I151I Substitution - coding silent Central_nervous_system COSM5020404 KMT2A c.7245C>T p.N2415N Substitution - coding silent Soft_tissue COSM5075646 PRDM15 c.710A>C p.K237T Substitution - Missense Large_intestine COSM5049185 TAF1 c.5267G>T p.G1756V Substitution - Missense Oesophagus COSM5357001 JARID2 c.3607delA p.N1204fs*>43 Deletion - Frameshift Large_intestine COSM5471868 WHSC1 c.2881+4C>T p.? Unknown Large_intestine COSM5425835 FXR1 c.468A>T p.A156A Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5455232 SETD5_ENST00000402198 c.409G>T p.E137* Substitution - Nonsense Large_intestine COSM5642673 PHRF1 c.2397C>G p.F799L Substitution - Missense Oesophagus COSM5638043 ACTR5 c.1522G>T p.E508* Substitution - Nonsense Oesophagus COSM5761004 HELLS c.2353A>G p.K785E Substitution - Missense Pancreas COSM5741365 KDM4B c.1028A>G p.D343G Substitution - Missense Small_intestine COSM5715563 MYST1 c.13G>A p.G5R Substitution - Missense Skin COSM5727281 CHD2 c.276G>A p.R92R Substitution - coding silent Skin COSM5688249 PRDM14 c.1267C>G p.P423A Substitution - Missense Soft_tissue COSM5752146 ASXL1 c.1866_1869delGCAG p.Q623fs*79 Deletion - Frameshift Breast COSM5701242 EP400 c.8182_8183insCAG p.Q2728>PE Complex - insertion inframe Soft_tissue COSM5709866 EYA4 c.304C>A p.P102T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5708972 TET2 c.4931_4947del17 p.P1644fs*11 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5711315 KIAA2026_ENST00000399933 c.4232C>G p.T1411R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5574206 NCOR1 c.2224A>G p.T742A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5802615 CHD4 c.1512_1513insAGA p.K504_I505insR Insertion - In frame Breast COSM5945049 TET2 c.3844G>T p.G1282C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5952332 JMJD5 c.611G>T p.R204M Substitution - Missense Oesophagus COSM5922175 MBD5 c.2510C>T p.S837F Substitution - Missense Skin COSM5888412 KDM4B c.1514C>T p.P505L Substitution - Missense Upper_aerodigestive_tract COSM5980202 KMT2A c.10681C>T p.R3561W Substitution - Missense Upper_aerodigestive_tract COSM1716569 BAP1 c.784-?_1890+?del p.? Unknown Pleura COSM52809 PBRM1 c.1657A>T p.K553* Substitution - Nonsense Kidney COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Bone COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM4169292 ARID1A c.? p.Q563* Substitution - Nonsense Biliary_tract COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM132980 ASXL1 c.? p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1716177 EZH2 c.? p.Y646H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1737975 BAP1 c.? p.H193Q Substitution - Missense Eye COSM166412 TET2 c.? p.V1417F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1109449 KIAA2026_ENST00000399933 c.3579A>G p.V1193V Substitution - coding silent Endometrium COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM4895556 BPTF c.2493T>C p.V831V Substitution - coding silent Skin COSM4660718 AKAP1 c.743G>T p.S248I Substitution - Missense Large_intestine COSM1284301 CREBBP c.4094C>A p.S1365* Substitution - Nonsense Autonomic_ganglia COSM86082 KMT2C c.2418C>G p.S806S Substitution - coding silent Central_nervous_system COSM3620786 EYA4 c.134G>A p.G45D Substitution - Missense Skin COSM309540 BRWD3 c.906G>T p.M302I Substitution - Missense Lung COSM136514 NSD1 c.6542C>T p.S2181F Substitution - Missense Skin COSM122851 EP300 c.4195G>A p.D1399N Substitution - Missense Lung COSM25334 SUV39H2 c.967G>C p.D323H Substitution - Missense Breast COSM126825 NCOR1 c.2125C>T p.Q709* Substitution - Nonsense Biliary_tract COSM230133 KMT2C c.1173C>A p.C391* Substitution - Nonsense Soft_tissue COSM304532 TDRD3 c.1049G>A p.S350N Substitution - Missense Large_intestine COSM5019909 EP300 c.6636G>A p.Q2212Q Substitution - coding silent Soft_tissue COSM4854311 EP300 c.6643C>T p.Q2215* Substitution - Nonsense Cervix COSM4851621 SMARCD1 c.999C>T p.I333I Substitution - coding silent Cervix COSM995907 DPF1 c.556G>A p.A186T Substitution - Missense Endometrium COSM5352471 ZMYM4 c.7_8delGA p.E5fs*10 Deletion - Frameshift Large_intestine COSM4654423 PHF19 c.1279C>T p.L427L Substitution - coding silent Large_intestine COSM1731244 ARID2 c.4000G>T p.G1334* Substitution - Nonsense Liver COSM4769003 JHDM1D c.1369G>C p.D457H Substitution - Missense Biliary_tract COSM100075 TET2 c.4193T>C p.L1398P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4717514 PRDM5 c.204G>C p.L68F Substitution - Missense Large_intestine COSM4426524 NSD1 c.4378+1_4378+4delGTGA p.? Unknown Oesophagus COSM1409369 SMYD5 c.774_777delTGTC p.C260fs*14 Deletion - Frameshift Large_intestine COSM43519 TET2 c.2029_2030insT p.C677fs*4 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1048984 SETD5_ENST00000402198 c.1322G>A p.R441H Substitution - Missense Pancreas COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM384420 EP300 c.1335_1336GG>TT p.G446C Substitution - Missense Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM100055 TET2 c.4256C>G p.P1419R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3362524 SETBP1 c.337G>T p.A113S Substitution - Missense Kidney COSM5772441 DNMT3A c.1136G>A p.R379H Substitution - Missense Breast COSM4751165 BMI1 c.781C>T p.P261S Substitution - Missense Stomach COSM3736078 APOBEC1 c.240G>C p.M80I Substitution - Missense Skin COSM5770731 PRDM9 c.2487G>C p.E829D Substitution - Missense Breast COSM5424922 TDRD6 c.6047-4G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4883838 IDH2 c.649G>T p.V217L Substitution - Missense Upper_aerodigestive_tract COSM1485068 KAT2B c.1607G>A p.R536Q Substitution - Missense Breast COSM3844751 PHF16 c.313C>G p.L105V Substitution - Missense Breast COSM1756125 TAF1L c.118A>G p.I40V Substitution - Missense Urinary_tract COSM4606300 KMT2D c.13189+4A>G p.? Unknown Upper_aerodigestive_tract COSM1215212 MLL5 c.1225C>T p.R409W Substitution - Missense Large_intestine COSM217005 HNF1A c.1574C>T p.T525I Substitution - Missense Liver COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM4798437 RAI1 c.1892G>A p.S631N Substitution - Missense Liver COSM1283534 ASXL1 c.2128G>T p.G710* Substitution - Nonsense Autonomic_ganglia COSM4603590 KMT2C c.2448_2449insA p.I817fs*11 Insertion - Frameshift Upper_aerodigestive_tract COSM354412 GABRG1 c.731G>A p.R244Q Substitution - Missense Lung COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Soft_tissue COSM5959686 HCFC1 c.4699C>G p.Q1567E Substitution - Missense Thyroid COSM349792 ASH1L c.695C>T p.S232F Substitution - Missense Lung COSM3698011 PHIP c.338A>C p.K113T Substitution - Missense Large_intestine COSM4914047 SUV420H1 c.384G>A p.R128R Substitution - coding silent Liver COSM4042391 KMT2D c.5405G>A p.R1802H Substitution - Missense Stomach COSM1159417 NIPBL c.790A>G p.M264V Substitution - Missense Pancreas COSM4797025 ARID1B c.2400G>A p.G800G Substitution - coding silent Liver COSM1373024 TP53BP1 c.2130_2131insA p.E711fs*9 Insertion - Frameshift Large_intestine COSM3525859 SETBP1 c.1917G>A p.E639E Substitution - coding silent Skin COSM961507 MGA c.3157C>T p.R1053* Substitution - Nonsense Endometrium COSM4002744 PBRM1 c.4335A>G p.P1445P Substitution - coding silent Soft_tissue COSM315007 SCML2 c.2031G>T p.M677I Substitution - Missense Soft_tissue COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3820565 ZBTB4 c.1010A>T p.Y337F Substitution - Missense Breast COSM1560994 RNF134 c.83_84insGCCTCC p.P28_V29insPP Insertion - In frame Large_intestine COSM217038 ARID1A c.6251T>A p.V2084D Substitution - Missense Liver COSM1127531 HNF1A c.1703C>T p.P568L Substitution - Missense Prostate COSM5799797 TBL1XR1 c.1140A>G p.Q380Q Substitution - coding silent Breast COSM3413922 ARID1B c.5535C>T p.G1845G Substitution - coding silent Oesophagus COSM1027534 ZMYND8 c.254C>T p.P85L Substitution - Missense Skin COSM3783763 BRPF1 c.317G>A p.R106H Substitution - Missense Prostate COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5415904 TET2 c.? p.Q876* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1471552 MECOM c.738G>C p.A246A Substitution - coding silent Prostate COSM5717849 GTF3C1 c.6085C>T p.L2029L Substitution - coding silent Skin COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4991774 MSH6 c.3328C>T p.P1110S Substitution - Missense Skin COSM3750243 TRIM33 c.1146A>G p.Q382Q Substitution - coding silent Soft_tissue COSM1322569 KDM5A c.4357C>T p.L1453F Substitution - Missense Ovary COSM697537 CHD8 c.2680G>T p.A894S Substitution - Missense Lung COSM3762193 PHIP c.4228C>T p.L1410L Substitution - coding silent Large_intestine COSM12930 TAF1L c.2284C>A p.L762I Substitution - Missense Lung COSM5436232 SMARCA5 c.39C>A p.P13P Substitution - coding silent Oesophagus COSM1465508 SMARCA1 c.2257C>T p.R753C Substitution - Missense Large_intestine COSM1225341 SETD1A c.935G>A p.R312H Substitution - Missense Large_intestine COSM4646231 TAF1L c.2010A>C p.E670D Substitution - Missense Large_intestine COSM4849666 SETDB1 c.493C>G p.Q165E Substitution - Missense Cervix COSM4488586 PHIP c.3350C>T p.P1117L Substitution - Missense Skin COSM3374114 ARID1B c.4144C>T p.Q1382* Substitution - Nonsense Thyroid COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Central_nervous_system COSM1168834 EZH1 c.2122C>T p.R708W Substitution - Missense Skin COSM215538 KMT2D c.6538_6539insA p.Y2180fs*1 Insertion - Frameshift Central_nervous_system COSM5477504 TRIM33 c.1544G>A p.R515Q Substitution - Missense Large_intestine COSM3696434 PHF17 c.1177C>T p.P393S Substitution - Missense Large_intestine COSM5437049 KDM2A c.438C>T p.L146L Substitution - coding silent Oesophagus COSM3706248 BAZ1A c.553A>G p.I185V Substitution - Missense Liver COSM1098851 ELP3 c.559C>T p.R187* Substitution - Nonsense Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3734212 SFMBT1 c.752T>A p.V251E Substitution - Missense Pancreas COSM1602996 TDRD1 c.1611C>T p.R537R Substitution - coding silent Liver COSM5777458 RBBP4 c.691G>A p.E231K Substitution - Missense Breast COSM1462015 TAF1L c.1318A>G p.I440V Substitution - Missense Large_intestine COSM1751705 PRMT2 c.1150C>T p.H384Y Substitution - Missense Urinary_tract COSM5742266 SUV39H1 c.872A>G p.D291G Substitution - Missense Small_intestine COSM1262038 PHF15 c.1795C>T p.R599C Substitution - Missense Oesophagus COSM4917553 CHD7 c.6311C>T p.A2104V Substitution - Missense Liver COSM1038798 HDAC11 c.233G>A p.R78H Substitution - Missense Endometrium COSM3804266 ACTA1 c.897C>T p.N299N Substitution - coding silent Breast COSM4398401 TCF20 c.4896C>T p.Y1632Y Substitution - coding silent Skin COSM5356601 KDM3B c.1124G>A p.G375D Substitution - Missense Large_intestine COSM3724465 ARID1A c.2519A>G p.Q840R Substitution - Missense Large_intestine COSM5639525 PHF14 c.1494T>A p.H498Q Substitution - Missense Oesophagus COSM4754576 HDAC7 c.563G>A p.R188Q Substitution - Missense Stomach COSM4847498 CHD9 c.4585G>A p.E1529K Substitution - Missense Cervix COSM4478417 EZH1 c.2238C>T p.V746V Substitution - coding silent Skin COSM72608 SETMAR c.565G>A p.D189N Substitution - Missense Ovary COSM163749 PRMT10 c.178C>G p.H60D Substitution - Missense Breast COSM486801 TDRD7 c.1801G>C p.G601R Substitution - Missense Kidney COSM1363039 SMARCC2 c.3128delC p.P1043fs*18 Deletion - Frameshift Large_intestine COSM4053102 UBR7 c.1006G>A p.D336N Substitution - Missense Stomach COSM4824194 KMT2C c.6481C>T p.Q2161* Substitution - Nonsense Upper_aerodigestive_tract COSM1639693 RBBP5 c.219-7delT p.? Unknown Large_intestine COSM146945 JMJD1C c.722T>C p.M241T Substitution - Missense Stomach COSM4729241 SP100 c.1193G>C p.R398T Substitution - Missense Large_intestine COSM3662438 DAXX c.1341G>A p.E447E Substitution - coding silent Liver COSM3688352 BAZ2A c.5778C>T p.F1926F Substitution - coding silent Large_intestine COSM480283 BAP1 c.1876A>T p.K626* Substitution - Nonsense Kidney COSM3702248 SMYD1 c.288T>C p.Y96Y Substitution - coding silent Liver COSM985961 SIRT7 c.973G>A p.E325K Substitution - Missense Endometrium COSM87161 TET2 c.4138C>T p.H1380Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1680370 MBD2 c.830A>C p.Q277P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3022327 ARID1B c.2843C>T p.P948L Substitution - Missense Bone COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3717863 SMCHD1 c.3086G>T p.S1029I Substitution - Missense Liver COSM5950661 PRDM4 c.1781T>C p.M594T Substitution - Missense Prostate COSM5001430 PRDM8 c.2045C>A p.S682Y Substitution - Missense Pancreas COSM5683813 HDGFL1 c.410C>A p.P137H Substitution - Missense Soft_tissue COSM1027969 ADNP c.2195T>A p.L732* Substitution - Nonsense Endometrium COSM5719952 SETD5_ENST00000402198 c.1306G>A p.G436R Substitution - Missense Skin COSM4411435 CBX7 c.214_216AGA>G p.R72fs*43 Complex - frameshift Kidney COSM4443250 MBD6 c.265G>C p.V89L Substitution - Missense Large_intestine COSM163601 POGZ c.1234G>C p.D412H Substitution - Missense Breast COSM87169 TET2 c.4249G>T p.V1417F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1099889 MYST3 c.5982G>A p.K1994K Substitution - coding silent Endometrium COSM3384359 ARID2 c.3102A>G p.Q1034Q Substitution - coding silent Pancreas COSM3510039 BRD7 c.637C>T p.P213S Substitution - Missense Skin COSM4048190 TDRD3 c.1430T>C p.V477A Substitution - Missense Stomach COSM699672 SETD3 c.1708C>G p.L570V Substitution - Missense Lung COSM1377818 CREBBP c.5064G>A p.T1688T Substitution - coding silent Large_intestine COSM4933243 ZMYM4 c.2684C>A p.A895D Substitution - Missense Liver COSM1318763 CBX7 c.196_197insGAGC p.A66fs*6 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5426235 ZMYM1 c.217G>A p.V73M Substitution - Missense Large_intestine COSM3735705 TCF19 c.870G>T p.E290D Substitution - Missense Skin COSM4385483 PHF6 c.3G>C p.M1I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2866625 TRRAP c.4870G>T p.A1624S Substitution - Missense Upper_aerodigestive_tract COSM4040264 EP400 c.4765C>T p.P1589S Substitution - Missense Stomach COSM1323611 GTF3C1 c.453C>T p.I151I Substitution - coding silent Ovary COSM5912731 ZCWPW1 c.226G>A p.E76K Substitution - Missense Skin COSM140761 SETD1A c.634G>T p.E212* Substitution - Nonsense Skin COSM5347298 HNF1A c.79_90del12 p.I27_L30delIQAL Deletion - In frame Liver COSM1192753 CBX5 c.317delA p.K106fs*31 Deletion - Frameshift Large_intestine COSM908336 PRDM16 c.1069C>T p.R357C Substitution - Missense Large_intestine COSM3402286 SETD1A c.1323T>C p.G441G Substitution - coding silent Central_nervous_system COSM920535 KAT6B c.4705T>G p.C1569G Substitution - Missense Endometrium COSM5423503 MBD5 c.251_252delAG p.R85fs*6 Deletion - Frameshift Prostate COSM5412756 HDAC6 c.2068C>T p.Q690* Substitution - Nonsense Skin COSM5407143 HDAC9 c.307C>T p.L103L Substitution - coding silent Skin COSM5894401 PRDM1 c.1382C>T p.S461F Substitution - Missense Skin COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM1114819 SMARCA1 c.460G>T p.D154Y Substitution - Missense Endometrium COSM4974440 TIF1 c.2866G>A p.G956S Substitution - Missense Oesophagus COSM4894542 PHIP c.83G>A p.C28Y Substitution - Missense Skin COSM5944857 PHF6 c.127_128insG p.H43fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5562951 TDRD5 c.2237C>G p.P746R Substitution - Missense Prostate COSM3488265 PRDM16 c.3739C>T p.H1247Y Substitution - Missense Skin COSM1697313 TDRD6 c.5270A>T p.D1757V Substitution - Missense Skin COSM3955409 ING1 c.69C>T p.I23I Substitution - coding silent Lung COSM306089 SUZ12 c.1105_1106insA p.S369fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1128982 SRCAP c.2961C>A p.P987P Substitution - coding silent Prostate COSM1093660 TRRAP c.7162C>T p.R2388C Substitution - Missense Endometrium COSM417839 SETBP1 c.1420G>A p.E474K Substitution - Missense Urinary_tract COSM3829093 EYA4 c.1671G>A p.A557A Substitution - coding silent Breast COSM4732893 TDRD1 c.3362_3363insA p.N1123fs*17 Insertion - Frameshift Large_intestine COSM961970 TP53BP1 c.4970C>T p.P1657L Substitution - Missense Endometrium COSM1326737 CHD6 c.3228C>T p.D1076D Substitution - coding silent Ovary COSM5406143 MLL5 c.2384C>T p.S795L Substitution - Missense Skin COSM29733 MSH6 c.2309G>T p.G770V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1730843 NCOA6 c.4591A>G p.I1531V Substitution - Missense Liver COSM387053 SMYD1 c.576C>T p.A192A Substitution - coding silent Lung COSM2252223 UBR7 c.292C>T p.R98C Substitution - Missense Skin COSM4689684 HDAC4 c.954C>T p.P318P Substitution - coding silent Large_intestine COSM1680361 MBD1 c.1075A>G p.K359E Substitution - Missense Large_intestine COSM4494814 C5orf35 c.43C>T p.R15C Substitution - Missense Skin COSM1719481 MECOM c.2543G>A p.R848Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3419898 ARID4A c.232G>A p.A78T Substitution - Missense Liver COSM26938 CHD8 c.2405_2406insTA p.H803fs*83 Insertion - Frameshift Upper_aerodigestive_tract COSM3878480 TIF1 c.390C>T p.C130C Substitution - coding silent Stomach COSM3659711 PHF2 c.388C>T p.P130S Substitution - Missense Skin COSM4721051 RERE c.1703G>T p.G568V Substitution - Missense Large_intestine COSM5730762 KMT2D c.911A>T p.K304I Substitution - Missense Breast COSM3758929 AIRE c.681C>T p.G227G Substitution - coding silent Liver COSM4672108 CHD9 c.1737delC p.S579fs*10 Deletion - Frameshift Large_intestine COSM5599342 CREBBP c.7047C>T p.V2349V Substitution - coding silent Skin COSM3728488 SETBP1 c.2456delA p.K820fs*15 Deletion - Frameshift Lung COSM3113499 SETD1A c.1154G>A p.R385H Substitution - Missense Large_intestine COSM1713383 NCOA6 c.6109C>T p.R2037* Substitution - Nonsense Skin COSM37029 EZH2 c.1937A>C p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM241571 SETD1B c.1738delG p.D580fs*8 Deletion - Frameshift Prostate COSM3846386 ZBTB38 c.812T>G p.I271R Substitution - Missense Breast COSM3450146 GLYATL1 c.612G>A p.Q204Q Substitution - coding silent Skin COSM1241439 KMT2C c.12195G>A p.A4065A Substitution - coding silent Large_intestine COSM5757613 BAP1 c.? p.K286fs*? Frameshift Kidney COSM4186824 PRDM5 c.1694G>T p.R565M Substitution - Missense Kidney COSM1308532 RUVBL1 c.1235C>T p.P412L Substitution - Missense Urinary_tract COSM2158379 JMJD1C c.5797C>T p.L1933F Substitution - Missense Large_intestine COSM5384986 CHD9 c.2436A>G p.L812L Substitution - coding silent Skin COSM346490 ASXL3 c.1458C>A p.L486L Substitution - coding silent Lung COSM3160285 PHF3 c.2720delA p.G909fs*32 Deletion - Frameshift Large_intestine COSM21471 HNF1A c.617G>T p.W206L Substitution - Missense Liver COSM5396604 ATAD2B_ENST00000238789 c.1980C>T p.I660I Substitution - coding silent Skin COSM316699 ZMYM3 c.1389G>T p.G463G Substitution - coding silent Lung COSM255048 ARID1A c.2993delC p.S999fs*40 Deletion - Frameshift Urinary_tract COSM1703074 TDRD1 c.2110G>A p.E704K Substitution - Missense Skin COSM111693 KAT6B c.3289_3291delGAA p.E1097delE Deletion - In frame Upper_aerodigestive_tract COSM1720561 SRCAP c.6346C>T p.L2116F Substitution - Missense Skin COSM5793758 DIDO1 c.6388G>A p.D2130N Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144446 DPF2 c.1099+1G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM217332 KDM3B c.5025G>T p.Q1675H Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1034760 TCF20 c.3954G>T p.K1318N Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM914350 ASXL1 c.? p.S682fs*36 Unknown Haematopoietic_and_lymphoid_tissue COSM5985476 KDM6A c.2464G>A p.A822T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1675576 TDRD1 c.2258G>A p.C753Y Substitution - Missense Large_intestine COSM5380519 ARID1A c.4148G>A p.R1383Q Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM255184 PHF6 c.673C>T p.R225* Substitution - Nonsense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1184950 BRPF1 c.3193G>A p.V1065M Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4092261 SP140_ENST00000392045 c.1675T>C p.F559L Substitution - Missense Stomach COSM211720 TET2 c.3812G>A p.C1271Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5407250 STK31 c.601G>A p.E201K Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1315518 KDM6A c.3578G>A p.W1193* Substitution - Nonsense Urinary_tract COSM259667 BRD9 c.150G>A p.T50T Substitution - coding silent Large_intestine COSM1568717 MLL5 c.3600C>T p.A1200A Substitution - coding silent Large_intestine COSM3842763 EP300 c.4915C>T p.L1639L Substitution - coding silent Breast COSM4775899 KDM2A c.72T>C p.D24D Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4443616 SMARCA2 c.1714G>T p.G572C Substitution - Missense Large_intestine COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM3831978 TIF1 c.794A>T p.N265I Substitution - Missense Breast COSM85584 ARID1A c.5947_5948delTG p.S1985fs*13 Deletion - Frameshift Stomach COSM4996823 HDAC9 c.2411C>A p.T804N Substitution - Missense Upper_aerodigestive_tract COSM4588412 PHF19 c.1456C>T p.R486W Substitution - Missense Bone COSM941779 BAZ2A c.1801C>T p.R601C Substitution - Missense Endometrium COSM5352281 ARID1A c.? p.V1982I Substitution - Missense Endometrium COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM5466873 TDRD6 c.5916G>T p.M1972I Substitution - Missense Large_intestine COSM4755804 CLOCK c.1140A>C p.E380D Substitution - Missense Stomach COSM1601715 LBR c.451-2A>G p.? Unknown Liver COSM3467604 ZMYM2 c.3944C>T p.P1315L Substitution - Missense Skin COSM5445985 PCGF6 c.69_70insCCGCCT p.P28_V29insPP Insertion - In frame Thyroid COSM1587018 ZMYM2 c.2824T>C p.S942P Substitution - Missense Endometrium COSM5425079 GTF3C1 c.143G>T p.W48L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4512739 PRMT7 c.913C>T p.P305S Substitution - Missense Skin COSM478054 NCOA6 c.2590A>T p.N864Y Substitution - Missense Kidney COSM4752109 ASXL3 c.1961A>C p.K654T Substitution - Missense Stomach COSM5691116 RERE c.3120C>T p.V1040V Substitution - coding silent Soft_tissue COSM4060958 GLYR1 c.354T>C p.S118S Substitution - coding silent Stomach COSM5989349 ARID1A c.3230C>G p.A1077G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4158281 ATXN7 c.116A>C p.Q39P Substitution - Missense Soft_tissue COSM5029834 KMT2C c.3842G>A p.G1281D Substitution - Missense Bone COSM5999588 RSF1 c.3481C>T p.R1161C Substitution - Missense Prostate COSM30387 KDM5C c.807delC p.T270fs*2 Deletion - Frameshift Kidney COSM161113 FMR1 c.578G>A p.R193H Substitution - Missense Breast COSM3937725 ASXL3 c.1897A>G p.K633E Substitution - Missense Oesophagus COSM22642 MEN1 c.403A>T p.K135* Substitution - Nonsense Soft_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM30369 SETD2 c.2965C>T p.R989* Substitution - Nonsense Breast COSM13402 MSH6 c.3261_3262insCC p.F1088fs*3 Insertion - Frameshift Stomach COSM85911 IKZF1 c.161-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53278 TET2 c.? p.H1904? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM77650 EP400 c.4201C>T p.R1401W Substitution - Missense Ovary COSM87962 KMT2C c.6589C>T p.Q2197* Substitution - Nonsense Central_nervous_system COSM97042 ASXL1 c.2898_2900delAGG p.G967del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM133737 DNMT3A c.2207G>A p.R736H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM138718 PHF2 c.1415C>T p.P472L Substitution - Missense Skin COSM145809 PRDM9 c.827A>T p.Y276F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM149376 SETD2 c.4376C>T p.P1459L Substitution - Missense Prostate COSM149378 SETD2 c.1731G>A p.M577I Substitution - Missense Stomach COSM186819 NIPBL c.4264delT p.F1423fs*15 Deletion - Frameshift Oesophagus COSM211722 TET2 c.3820C>G p.Q1274E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM222362 KDM4B c.1171C>T p.P391S Substitution - Missense Skin COSM255017 KDM6A c.1663C>T p.Q555* Substitution - Nonsense Urinary_tract COSM260095 CHD7 c.3051C>T p.G1017G Substitution - coding silent Large_intestine COSM277388 SMCHD1 c.2428C>A p.L810I Substitution - Missense Large_intestine COSM327313 PHF6 c.346C>T p.R116* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM355091 HDAC5 c.1074C>T p.P358P Substitution - coding silent Lung COSM346018 TRRAP c.8218G>T p.E2740* Substitution - Nonsense Lung COSM367210 SMARCA4 c.4617C>G p.F1539L Substitution - Missense Lung COSM372170 CHD9 c.2287-1G>T p.? Unknown Lung COSM431973 PHC1 c.65C>G p.S22C Substitution - Missense Breast COSM459171 KDM4A c.2294G>A p.R765Q Substitution - Missense Cervix COSM465843 JMJD1C c.5497C>T p.L1833L Substitution - coding silent Central_nervous_system COSM915007 TDRD1 c.326-2A>G p.? Unknown Endometrium COSM687723 SIRT3 c.1167G>T p.R389R Substitution - coding silent Lung COSM1051392 SETD7 c.746G>A p.R249Q Substitution - Missense Large_intestine COSM756012 FMR1 c.1449A>G p.R483R Substitution - coding silent Lung COSM716184 BAZ2B c.2925G>A p.A975A Substitution - coding silent Lung COSM723655 CHD6 c.3887G>A p.R1296K Substitution - Missense Lung COSM730684 SMARCC1 c.1108G>T p.D370Y Substitution - Missense Lung COSM999862 KDM4B c.2556C>T p.C852C Substitution - coding silent Endometrium COSM1060899 PHF15 c.1555C>A p.L519M Substitution - Missense Endometrium COSM1108531 KIAA1045 c.688G>A p.A230T Substitution - Missense Endometrium COSM1093681 TRRAP c.8378C>T p.P2793L Substitution - Missense Endometrium COSM1100849 CHD7 c.5741G>A p.R1914H Substitution - Missense Stomach COSM1099965 MYST3 c.4G>A p.V2I Substitution - Missense Endometrium COSM1101457 EYA1 c.574T>C p.S192P Substitution - Missense Endometrium COSM1262061 PHF21A c.432C>T p.T144T Substitution - coding silent Oesophagus COSM1266222 SMARCA2 c.2570A>C p.K857T Substitution - Missense Oesophagus COSM1165521 HCFC1 c.408A>C p.L136L Substitution - coding silent Large_intestine COSM1314882 KDM4C c.3059G>C p.R1020T Substitution - Missense Urinary_tract COSM1289551 RAG2 c.3G>A p.M1I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1298011 RAG2 c.1512C>A p.S504S Substitution - coding silent Urinary_tract COSM1298488 KDM2A c.3369G>A p.L1123L Substitution - coding silent Urinary_tract COSM1286175 MGA c.6862A>G p.T2288A Substitution - Missense Autonomic_ganglia COSM1324135 RAI1 c.840G>A p.Q280Q Substitution - coding silent Large_intestine COSM1394611 KDM4B c.988T>C p.Y330H Substitution - Missense Large_intestine COSM1443055 ATAT1 c.894delC p.P300fs*>24 Deletion - Frameshift Large_intestine COSM1341403 ARID1A c.2144C>T p.S715L Substitution - Missense Large_intestine COSM1485631 PRDM5 c.586G>T p.E196* Substitution - Nonsense Breast COSM1611473 DNMT1 c.417G>T p.R139S Substitution - Missense Liver COSM1616073 BRWD1 c.1691A>G p.Y564C Substitution - Missense Liver COSM1580558 BAZ1A c.4652C>T p.A1551V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1673517 SND1 c.182G>A p.R61H Substitution - Missense Large_intestine COSM1965163 KAT6B c.4569C>T p.V1523V Substitution - coding silent Large_intestine COSM2076871 PRDM16 c.260G>A p.R87Q Substitution - Missense Pituitary COSM2151935 PHF20 c.1345G>T p.D449Y Substitution - Missense Central_nervous_system COSM2098420 CHD4 c.3909T>A p.I1303I Substitution - coding silent Upper_aerodigestive_tract COSM2911770 DNMT3A c.2037G>A p.G679G Substitution - coding silent Upper_aerodigestive_tract COSM2960100 ASH2L c.1050G>A p.P350P Substitution - coding silent Kidney COSM2965461 KDM6A c.3687G>A p.Q1229Q Substitution - coding silent Upper_aerodigestive_tract COSM3075976 BRPF3 c.1932G>A p.E644E Substitution - coding silent Upper_aerodigestive_tract COSM3153094 EP300 c.1268A>C p.K423T Substitution - Missense Large_intestine COSM3291622 CHD6 c.8079C>T p.P2693P Substitution - coding silent Liver COSM3294919 ZMYND8 c.1597G>A p.G533S Substitution - Missense Large_intestine COSM3631650 MLL5 c.1293T>A p.Y431* Substitution - Nonsense Skin COSM3637558 STK31 c.2407C>T p.P803S Substitution - Missense Skin COSM3563149 TAF1 c.2360C>T p.P787L Substitution - Missense Skin COSM3567455 MBD5 c.2933C>T p.P978L Substitution - Missense Skin COSM3662944 TRIM24 c.2581C>G p.P861A Substitution - Missense Liver COSM3681448 EP300 c.5412G>A p.P1804P Substitution - coding silent Stomach COSM3669282 GABRG1 c.72C>T p.V24V Substitution - coding silent Liver COSM3701348 AP001011.3_ENST00000320876 c.1078A>G p.N360D Substitution - Missense Liver COSM3705052 ASH1L c.4380C>G p.L1460L Substitution - coding silent Liver COSM3732542 PRMT8 c.363T>A p.G121G Substitution - coding silent Stomach COSM3759526 KDM5C c.564G>A p.K188K Substitution - coding silent Large_intestine COSM3825233 SETD7 c.52G>A p.D18N Substitution - Missense Breast COSM3827761 NSD1 c.6364T>G p.F2122V Substitution - Missense Breast COSM3925444 CHD7 c.8908C>T p.L2970F Substitution - Missense Skin COSM3926630 SMARCA2 c.4413C>T p.V1471V Substitution - coding silent Skin COSM3873170 DAXX c.1356A>G p.E452E Substitution - coding silent Stomach COSM3900868 CHD7 c.3866C>T p.A1289V Substitution - Missense Stomach COSM3891263 L3MBTL4 c.285C>T p.P95P Substitution - coding silent Skin COSM3957479 SRCAP c.2776G>T p.A926S Substitution - Missense Lung COSM3963800 ZGPAT c.1016G>T p.R339I Substitution - Missense Liver COSM4006353 BAG6 c.2447G>A p.S816N Substitution - Missense Urinary_tract COSM3995460 KMT2C c.13021G>T p.G4341W Substitution - Missense Kidney COSM3995646 ACTB c.1042T>C p.S348P Substitution - Missense Kidney COSM4100179 DIDO1 c.4866C>T p.G1622G Substitution - coding silent Stomach COSM4115474 ACTL6A c.901C>T p.R301W Substitution - Missense Stomach COSM4064361 RAI1 c.4278C>T p.T1426T Substitution - coding silent Stomach COSM4147292 SMARCC2 c.3577A>C p.T1193P Substitution - Missense Prostate COSM4162018 KMT2C c.2315C>T p.S772L Substitution - Missense Upper_aerodigestive_tract COSM4384318 KMT2C c.9613C>T p.H3205Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384756 KMT2D c.2015-7A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4387438 BAP1 c.1046_1046delA p.N349fs*13 Deletion - Frameshift Eye COSM4531494 TDRD6 c.1794G>T p.V598V Substitution - coding silent Skin COSM4501635 EED c.594C>T p.F198F Substitution - coding silent Skin COSM4427455 NCOA1 c.2787G>A p.E929E Substitution - coding silent Oesophagus COSM4498245 NCOA6 c.5164C>A p.P1722T Substitution - Missense Skin COSM4518644 CHD6 c.7322_7323GG>AA p.R2441K Substitution - Missense Skin COSM4469380 NCOA2 c.1598C>T p.S533F Substitution - Missense Skin COSM4726201 SIRT4 c.157C>T p.L53F Substitution - Missense Large_intestine COSM4737270 TTF2 c.1724A>C p.K575T Substitution - Missense Large_intestine COSM4689668 HDAC2 c.1097G>A p.R366H Substitution - Missense Large_intestine COSM4713934 PHF15 c.769T>A p.C257S Substitution - Missense Large_intestine COSM4702418 KMT2D c.12749C>T p.P4250L Substitution - Missense Large_intestine COSM4615763 CHD1 c.929delA p.N310fs*10 Deletion - Frameshift Large_intestine COSM4747649 PHF2 c.3241delA p.R1081fs*6 Deletion - Frameshift Stomach COSM4804153 PRMT1 c.715G>T p.E239* Substitution - Nonsense Liver COSM4779158 ZMYM4 c.2189A>C p.E730A Substitution - Missense Liver COSM4921698 SUV420H1 c.2572T>G p.L858V Substitution - Missense Liver COSM4913673 EP300 c.3764A>T p.H1255L Substitution - Missense Liver COSM4912100 CHD6 c.6118C>T p.H2040Y Substitution - Missense Liver COSM4876747 CHD9 c.624C>T p.V208V Substitution - coding silent Prostate COSM4993660 ZMYM2 c.2321_2350del30 p.Q774_W783del10 Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM5015277 INOC1 c.3059T>C p.V1020A Substitution - Missense Kidney COSM5023719 C5orf35 c.424A>G p.K142E Substitution - Missense Bone COSM5019221 TRIM33 c.1303-10delT p.? Unknown Soft_tissue COSM5080820 FMR1 c.420-9A>C p.? Unknown Large_intestine COSM5368241 RERE c.3145C>T p.P1049S Substitution - Missense Lung COSM5367911 KAT2A c.208_209insG p.A70fs*35 Insertion - Frameshift Large_intestine COSM5414284 BRDT c.331-6T>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5516144 ARID1A c.4560C>T p.G1520G Substitution - coding silent Biliary_tract COSM5473391 ARID2 c.3334C>T p.Q1112* Substitution - Nonsense Large_intestine COSM5431046 TDRD5 c.796A>C p.T266P Substitution - Missense Oesophagus COSM5444339 TRRAP c.5572G>T p.D1858Y Substitution - Missense Oesophagus COSM5576282 PBRM1 c.3327_3329delTGA p.D1109delD Deletion - In frame Stomach COSM5609428 KMT2A c.7041A>T p.K2347N Substitution - Missense Skin COSM5596359 BPTF c.4184C>T p.S1395F Substitution - Missense Skin COSM5582228 PRDM2 c.1081C>T p.P361S Substitution - Missense Skin COSM5693909 ZBTB33 c.1367A>T p.E456V Substitution - Missense Soft_tissue COSM5704266 HCFC2 c.2056_2057insT p.S687fs*5 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5556120 PHF15 c.262G>T p.G88C Substitution - Missense Prostate COSM5567605 NCOA6 c.5832A>G p.S1944S Substitution - coding silent Prostate COSM5878922 TET2 c.155delC p.K53fs*14 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5806446 UBR7 c.777A>G p.P259P Substitution - coding silent Liver COSM5813530 KMT2A c.2943A>T p.P981P Substitution - coding silent Liver COSM5944903 DNMT3A c.2407A>G p.R803G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5916859 ZMYND8 c.1808C>T p.A603V Substitution - Missense Skin COSM5921221 RAI1 c.599C>T p.P200L Substitution - Missense Skin COSM5970721 KMT2D c.14248T>G p.L4750V Substitution - Missense Upper_aerodigestive_tract COSM5991765 SETD7 c.363_366delATAT p.Y122fs*8 Deletion - Frameshift Prostate COSM41901 TET2 c.? p.R1216* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM1685360 SETBP1 c.? p.G872R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4169535 TET2 c.? p.P851fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM42071 TET2 c.2815C>T p.Q939* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM88817 TET2 c.? p.Q764fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM5012239 TDRD1 c.2834A>T p.N945I Substitution - Missense Kidney COSM3494952 CHD8 c.1842C>T p.L614L Substitution - coding silent Bone COSM21481 HNF1A c.872_873insC p.G292fs*25 Insertion - Frameshift Liver COSM1333443 PRDM2 c.81G>A p.P27P Substitution - coding silent Large_intestine COSM21481 HNF1A c.872_873insC p.G292fs*25 Insertion - Frameshift Liver COSM5940064 RNF134 c.772-8C>T p.? Unknown Skin COSM86082 KMT2C c.2418C>G p.S806S Substitution - coding silent Thyroid COSM3741200 ARID1A c.5293G>T p.E1765* Substitution - Nonsense Liver COSM5741478 BRD4 c.1279T>C p.S427P Substitution - Missense Small_intestine COSM5808832 LMNA c.91G>A p.E31K Substitution - Missense Liver COSM1718671 DNMT3B c.2051C>T p.P684L Substitution - Missense Skin COSM1633952 BRD8 c.2416G>T p.E806* Substitution - Nonsense Liver COSM1027545 NCOA3 c.3771G>A p.Q1257Q Substitution - coding silent Endometrium COSM1610313 HDAC5 c.1448C>T p.T483M Substitution - Missense Liver COSM5511455 RERE c.4198C>T p.R1400C Substitution - Missense Biliary_tract COSM268744 BAZ2B c.3862C>T p.R1288C Substitution - Missense Central_nervous_system COSM1315718 BRWD3 c.2143G>T p.A715S Substitution - Missense Urinary_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3835469 KDM4B c.1492G>A p.E498K Substitution - Missense Breast COSM4970269 ASH1L c.5252G>A p.R1751H Substitution - Missense Central_nervous_system COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM939982 KMT2D c.14650C>T p.R4884W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4664730 ATXN7 c.2528C>T p.S843L Substitution - Missense Large_intestine COSM52825 PBRM1 c.3393delA p.E1132fs*27 Deletion - Frameshift Kidney COSM744288 MLL5 c.4645C>T p.P1549S Substitution - Missense Lung COSM328953 ARID1A c.3635A>T p.Q1212L Substitution - Missense Liver COSM5737097 PHF17 c.1187C>T p.P396L Substitution - Missense Small_intestine COSM5400259 TET2 c.2066C>T p.S689F Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM147495 KMT2D c.11700A>G p.P3900P Substitution - coding silent Soft_tissue COSM4119377 ACTR8 c.656A>G p.Y219C Substitution - Missense Stomach COSM32855 KDM6A c.3317T>G p.L1106R Substitution - Missense Biliary_tract COSM4525521 HDAC6 c.1336G>A p.E446K Substitution - Missense Skin COSM312427 L3MBTL4 c.545G>A p.R182K Substitution - Missense Lung COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM1220337 PHF14 c.2678A>G p.Y893C Substitution - Missense Large_intestine COSM1497046 KIAA2026_ENST00000399933 c.4311T>A p.T1437T Substitution - coding silent Kidney COSM4485215 ARID2 c.2909C>T p.P970L Substitution - Missense Skin COSM3455346 HCFC2 c.821C>T p.S274L Substitution - Missense Skin COSM1362000 KMT2D c.8920G>A p.E2974K Substitution - Missense Large_intestine COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1757274 SMC1A c.1592A>T p.Q531L Substitution - Missense Urinary_tract COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM1078024 DAXX c.286C>T p.H96Y Substitution - Missense Endometrium COSM441300 BAZ2B c.554A>G p.N185S Substitution - Missense Breast COSM1682090 PRMT2 c.301G>T p.E101* Substitution - Nonsense Large_intestine COSM4167255 TET2 c.? p.S1023fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM96449 CREBBP c.? p.I2101M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3237372 KDM3B c.5276C>T p.A1759V Substitution - Missense Large_intestine COSM255011 KDM6A c.2324C>G p.S775* Substitution - Nonsense Urinary_tract COSM2151577 SMARCD2 c.529C>T p.R177* Substitution - Nonsense Central_nervous_system COSM2740251 RAI1 c.4387C>A p.L1463M Substitution - Missense Large_intestine COSM41730 TET2 c.3953A>G p.E1318G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5607846 ARID1B c.3551C>T p.S1184F Substitution - Missense Skin COSM3777711 TDRD6 c.4942C>G p.Q1648E Substitution - Missense Urinary_tract COSM970572 CREBBP c.4251C>A p.Y1417* Substitution - Nonsense Endometrium COSM480148 SETD2 c.3836G>A p.W1279* Substitution - Nonsense Kidney COSM3943999 ZMYM4 c.956C>T p.S319L Substitution - Missense Ovary COSM1184374 KMT2C c.7435G>A p.G2479R Substitution - Missense Large_intestine COSM4232590 LBR c.902C>T p.A301V Substitution - Missense Upper_aerodigestive_tract COSM3615964 NIPBL c.8069G>A p.R2690Q Substitution - Missense Skin COSM5729547 RNF17 c.1573G>A p.V525I Substitution - Missense Skin COSM1262069 PHF6 c.378C>G p.V126V Substitution - coding silent Oesophagus COSM1720212 RAI1 c.3435C>T p.I1145I Substitution - coding silent Skin COSM3375731 PRDM10 c.2823A>C p.Q941H Substitution - Missense Pancreas COSM4605283 ASH1L c.3946C>G p.L1316V Substitution - Missense Upper_aerodigestive_tract COSM3760359 PRDM5 c.681A>G p.L227L Substitution - coding silent Large_intestine COSM3993991 KDM3B c.4988A>G p.Y1663C Substitution - Missense Kidney COSM1088159 HDAC9 c.1216G>T p.E406* Substitution - Nonsense Stomach COSM1720506 SMYD1 c.370_371GG>AA p.G124N Substitution - Missense Skin COSM3180223 SUZ12 c.1886A>T p.D629V Substitution - Missense Upper_aerodigestive_tract COSM4384714 KMT2D c.10223C>T p.A3408V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2755259 KDM4B c.1728T>C p.G576G Substitution - coding silent Large_intestine COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Central_nervous_system COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4550781 CHD7 c.5092G>A p.V1698M Substitution - Missense Skin COSM462232 KDM6A c.3337G>A p.V1113I Substitution - Missense Cervix COSM3775246 PBRM1 c.1747G>A p.E583K Substitution - Missense Urinary_tract COSM4074056 SMARCA4 c.3830C>T p.P1277L Substitution - Missense Stomach COSM248793 CDYL2 c.1142C>T p.T381M Substitution - Missense Pancreas COSM1309656 PRDM5 c.1582A>C p.K528Q Substitution - Missense Urinary_tract COSM6001688 IDH2 c.184A>G p.I62V Substitution - Missense Prostate COSM4950059 NCOA6 c.413_460del48 p.A138_M153del16 Deletion - In frame Liver COSM1713595 EYA2 c.683G>A p.G228E Substitution - Missense Skin COSM307690 CREBBP c.3779+1delG p.? Unknown Kidney COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM158724 GATAD2B c.535C>T p.R179* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5633233 TDRD7 c.1411G>A p.E471K Substitution - Missense Oesophagus COSM894169 TRIM33 c.3281A>G p.Q1094R Substitution - Missense Endometrium COSM1677875 PRMT5 c.567G>A p.W189* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM937151 EP400 c.2659G>A p.A887T Substitution - Missense Endometrium COSM1363347 MBD6 c.2194delC p.Q734fs*18 Deletion - Frameshift Large_intestine COSM1468552 SMC1A c.1525C>T p.R509C Substitution - Missense Large_intestine COSM3422182 SETBP1 c.1857C>A p.G619G Substitution - coding silent Large_intestine COSM975881 NCOR1 c.2793G>A p.Q931Q Substitution - coding silent Endometrium COSM3359734 ARID2 c.899A>T p.E300V Substitution - Missense Kidney COSM4522292 ZMYM3 c.1154G>T p.C385F Substitution - Missense Skin COSM3666444 PHRF1 c.703G>T p.V235F Substitution - Missense Liver COSM4720570 RBBP4 c.294C>T p.Y98Y Substitution - coding silent Large_intestine COSM3545561 NCOA6 c.2965C>T p.Q989* Substitution - Nonsense Skin COSM41293 IDH1 c.? p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM731059 PBRM1 c.1367T>C p.F456S Substitution - Missense Lung COSM3725371 EYA4 c.579C>T p.Y193Y Substitution - coding silent Lung COSM3624645 BAG6 c.2251C>T p.L751F Substitution - Missense Skin COSM5573144 CHD1 c.4787+2T>C p.? Unknown Prostate COSM3738478 TET2 c.? p.L1081* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3356325 KMT2D c.5373+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5806406 PRDM5 c.464C>A p.A155E Substitution - Missense Liver COSM4819702 BRDT c.611C>T p.A204V Substitution - Missense Cervix COSM1625045 KDM4C c.286G>T p.V96L Substitution - Missense Liver COSM5426645 DNMT1 c.3758+8G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5445027 TCF20 c.5333G>C p.R1778T Substitution - Missense Oesophagus COSM1165310 ARID1A c.2110G>A p.A704T Substitution - Missense Large_intestine COSM34192 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM5795821 POGZ c.1150T>G p.F384V Substitution - Missense Breast COSM1717423 BAP1 c.? p.? Unknown Eye COSM1686953 RERE c.2263C>T p.P755S Substitution - Missense Skin COSM1494839 DNMT3A c.868T>A p.F290I Substitution - Missense Kidney COSM4940089 CHD9 c.4269G>A p.W1423* Substitution - Nonsense Liver COSM1286216 MLL5 c.5276C>A p.P1759Q Substitution - Missense Autonomic_ganglia COSM88738 CREBBP c.4337G>T p.R1446L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5376551 RNF17 c.910A>G p.K304E Substitution - Missense Skin COSM87161 TET2 c.4138C>T p.H1380Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3715888 PHF20L1 c.762G>A p.K254K Substitution - coding silent Upper_aerodigestive_tract COSM2974752 TRIM28 c.359G>A p.C120Y Substitution - Missense Large_intestine COSM3557313 ZBTB33 c.1883G>A p.G628E Substitution - Missense Skin COSM4060192 SRCAP c.2834G>A p.R945Q Substitution - Missense Stomach COSM4933806 BAG6 c.2044C>T p.P682S Substitution - Missense Liver COSM3969588 CHD9 c.7449T>A p.D2483E Substitution - Missense Central_nervous_system COSM1087674 KMT2C c.167G>A p.R56Q Substitution - Missense Endometrium COSM1047103 PBRM1 c.477C>T p.D159D Substitution - coding silent Stomach COSM3578885 SP140 c.351G>A p.R117R Substitution - coding silent Skin COSM346119 TAF1L c.4150G>T p.D1384Y Substitution - Missense Lung COSM1741191 MGA c.2553_2554insC p.V853fs*8 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1117769 HCFC1 c.456G>A p.A152A Substitution - coding silent Endometrium COSM100082 KMT2C c.8390_8390delA p.K2797fs*26 Deletion - Frameshift Large_intestine COSM3642743 TRRAP c.994C>T p.L332L Substitution - coding silent Skin COSM5835986 SMC1A c.1012_1014delAAG p.K338delK Deletion - In frame Breast COSM1682288 EP300 c.4319C>T p.P1440L Substitution - Missense Soft_tissue COSM913235 BRDT c.1317T>G p.V439V Substitution - coding silent Endometrium COSM3652170 TDRD7 c.2159G>C p.R720P Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM693055 ATF7IP c.3719A>G p.Y1240C Substitution - Missense Lung COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4603233 DIDO1 c.4878_4879insC p.A1627fs*53 Insertion - Frameshift Upper_aerodigestive_tract COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3403538 SETBP1 c.3785G>C p.R1262T Substitution - Missense Central_nervous_system COSM3364776 SMEK2 c.1510+2T>A p.? Unknown Kidney COSM4428760 TTF2 c.858G>A p.T286T Substitution - coding silent Large_intestine COSM2218373 PYGO1 c.832C>T p.R278* Substitution - Nonsense Soft_tissue COSM51433 ARID1A c.645C>A p.Y215* Substitution - Nonsense Ovary COSM5907203 MSH6 c.1166C>T p.P389L Substitution - Missense Skin COSM4952685 KDM4A c.1190A>G p.K397R Substitution - Missense Liver COSM4386171 KMT2C c.2228C>T p.P743L Substitution - Missense Pancreas COSM4772240 BAP1 c.166C>T p.R56C Substitution - Missense Stomach COSM5793894 RAG2 c.1378G>A p.D460N Substitution - Missense Breast COSM162841 NCOA7 c.2134C>T p.P712S Substitution - Missense Breast COSM21486 HNF1A c.872delC p.P291fs*51 Deletion - Frameshift Liver COSM3979607 RAG2 c.48G>T p.Q16H Substitution - Missense Lung COSM1307338 PHF20 c.1419G>A p.M473I Substitution - Missense Urinary_tract COSM4927968 ARID1B c.1727A>G p.E576G Substitution - Missense Liver COSM132978 ASXL1 c.? p.R965* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1290507 SRCAP c.7193G>A p.R2398H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6001941 CREBBP c.3299C>T p.A1100V Substitution - Missense Prostate COSM1703068 TDRD1 c.1403G>A p.G468E Substitution - Missense Skin COSM5006580 SETD2 c.?_?del? p.?fs Deletion - Frameshift Adrenal_gland COSM5945969 HNF1A c.? p.R278V Substitution - Missense Peritoneum COSM992 SMARCB1 c.472C>T p.R158* Substitution - Nonsense Soft_tissue COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM402207 NCOA6 c.4495G>T p.G1499* Substitution - Nonsense Lung COSM4540444 EHMT2 c.2842G>A p.E948K Substitution - Missense Skin COSM276078 KMT2C c.12921C>T p.I4307I Substitution - coding silent Large_intestine COSM5505746 BAZ2B c.2965-9A>T p.? Unknown Biliary_tract COSM963071 PYGO1 c.1005G>A p.S335S Substitution - coding silent Endometrium COSM4387478 EP300 c.6668A>C p.Q2223P Substitution - Missense Soft_tissue COSM1715924 SMARCA4 c.3485G>T p.G1162V Substitution - Missense Liver COSM1290659 PHF12 c.2316T>C p.S772S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4410598 PBRM1 c.1168_1169insT p.Y390fs*2 Insertion - Frameshift Kidney COSM1348973 SFMBT2 c.319C>T p.R107C Substitution - Missense Stomach COSM4559244 PHRF1 c.797G>T p.R266L Substitution - Missense Skin COSM5991626 KMT2C c.? p.I155T Substitution - Missense Large_intestine COSM2166348 KAT5 c.474T>C p.I158I Substitution - coding silent Upper_aerodigestive_tract COSM5741264 CXXC1 c.1796C>T p.A599V Substitution - Missense Small_intestine COSM211631 TET2 c.5597_5608del12 p.T1867_S1870del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM5414277 FMR1 c.1188+5G>A p.? Unknown Skin COSM5753545 TAF3 c.2564A>G p.Y855C Substitution - Missense Large_intestine COSM5732672 PHF21A c.707G>A p.R236Q Substitution - Missense Pancreas COSM5880069 PHF6 c.639_640insCC p.F214fs*5 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5611225 ARID1A c.6223_6224CC>TT p.P2075L Substitution - Missense Skin COSM1602148 ARID1A c.3972delC p.P1326fs*155 Deletion - Frameshift Stomach COSM1019174 NCOA1 c.3163C>T p.R1055* Substitution - Nonsense Endometrium COSM3547329 EYA2 c.330C>T p.S110S Substitution - coding silent Skin COSM1706551 RNF17 c.554G>A p.R185K Substitution - Missense Skin COSM3567446 MBD5 c.1873C>T p.P625S Substitution - Missense Skin COSM937505 ATF7IP c.2098G>T p.E700* Substitution - Nonsense Lung COSM5684279 PHF2 c.3096C>T p.F1032F Substitution - coding silent Soft_tissue COSM1228046 SUV420H1 c.560G>A p.R187Q Substitution - Missense Large_intestine COSM3524758 AP001011.3_ENST00000320876 c.4704T>A p.G1568G Substitution - coding silent Skin COSM2965363 KDM6A c.1952C>T p.S651L Substitution - Missense Upper_aerodigestive_tract COSM1513902 RNF17 c.486C>T p.F162F Substitution - coding silent Urinary_tract COSM5879048 TET2 c.5348delA p.N1784fs*36 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3740695 ASH1L c.3551C>G p.T1184S Substitution - Missense Liver COSM2064470 HCFC2 c.892A>G p.T298A Substitution - Missense Large_intestine COSM3555268 PHF21B c.665C>T p.P222L Substitution - Missense Skin COSM5899790 BRD1 c.2117C>T p.P706L Substitution - Missense Skin COSM5757573 ATRX c.485A>G p.E162G Substitution - Missense Large_intestine COSM1107727 SMARCA2 c.2406T>G p.I802M Substitution - Missense Endometrium COSM211731 TET2 c.4133G>A p.C1378Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1411470 PHF20 c.74_75insA p.N27fs*11 Insertion - Frameshift Large_intestine COSM4788675 ASXL3 c.2764A>C p.K922Q Substitution - Missense Liver COSM4077668 DPF1 c.877G>A p.D293N Substitution - Missense Stomach COSM3944104 KDM4A c.2559A>T p.P853P Substitution - coding silent Ovary COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3637563 STK31 c.2657A>G p.N886S Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM52811 PBRM1 c.1861A>G p.K621E Substitution - Missense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5697457 BAZ2A_ENST00000379441 c.1929G>C p.S643S Substitution - coding silent Soft_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5809515 PRDM9 c.521A>T p.K174M Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5383001 SETD3 c.166C>T p.L56L Substitution - coding silent Skin COSM53311 IDH2 c.? p.R140W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3724529 SMARCA4 c.2438+1G>A p.? Unknown Ovary COSM110808 TET2 c.4317_4318delAC p.R1440fs*37 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM740280 ARID1B c.4686G>T p.M1562I Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3517987 HDAC5 c.695C>T p.P232L Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3900253 MYST3 c.751C>T p.R251* Substitution - Nonsense Soft_tissue COSM3833692 ZCWPW1 c.1556C>T p.S519F Substitution - Missense Breast COSM2777607 KIAA2026_ENST00000399933 c.1920C>T p.C640C Substitution - coding silent Large_intestine COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM216735 SHPRH c.2394G>A p.Q798Q Substitution - coding silent Pancreas COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1954471 ZMYND11 c.1667G>A p.R556H Substitution - Missense Upper_aerodigestive_tract COSM5646076 MLL5 c.2815C>T p.P939S Substitution - Missense Oesophagus COSM158615 DNMT3A c.2168delT p.L723fs*56 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4768617 KMT2C c.1038G>A p.V346V Substitution - coding silent Biliary_tract COSM1484888 FXR1 c.1094G>C p.R365T Substitution - Missense Breast COSM5881463 KMT2D c.? p.R2817L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5481862 SMARCA5 c.1984T>C p.F662L Substitution - Missense Large_intestine COSM4209748 MBD6 c.2736T>C p.H912H Substitution - coding silent Large_intestine COSM3673129 NCOA3 c.3715C>A p.R1239R Substitution - coding silent Prostate COSM3989394 KDM6B c.4230G>C p.W1410C Substitution - Missense Kidney COSM1351661 KMT2A c.9587delT p.L3197fs*15 Deletion - Frameshift Large_intestine COSM1237162 CHD1 c.2129T>C p.V710A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3811512 EP400 c.7828A>C p.T2610P Substitution - Missense Breast COSM319395 CDYL c.179C>G p.A60G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3703319 TRRAP c.1747C>A p.P583T Substitution - Missense Liver COSM302137 EP400 c.8181A>G p.Q2727Q Substitution - coding silent Kidney COSM999075 UHRF1 c.293A>C p.E98A Substitution - Missense Endometrium COSM4785701 BRD3 c.38C>T p.P13L Substitution - Missense Large_intestine COSM5715603 BRPF3 c.2489C>T p.S830F Substitution - Missense Skin COSM4092254 SP140_ENST00000392045 c.1191T>C p.D397D Substitution - coding silent Stomach COSM4494312 INOC1 c.4301C>T p.P1434L Substitution - Missense Skin COSM21039 TAF1L c.219G>T p.L73L Substitution - coding silent Lung COSM4411453 BAP1 c.1557delC p.S520fs*51 Deletion - Frameshift Kidney COSM4681140 EP400 c.8202G>A p.Q2734Q Substitution - coding silent Large_intestine COSM924941 PRDM10 c.3125C>T p.T1042M Substitution - Missense Lung COSM5017221 TRRAP c.5182A>G p.I1728V Substitution - Missense Kidney COSM3363240 ACTR5 c.1226T>G p.M409R Substitution - Missense Kidney COSM23015 MEN1 c.252_253insT p.I85fs*32 Insertion - Frameshift Lung COSM4451893 SET c.107A>T p.D36V Substitution - Missense Skin COSM53141 TET2 c.? p.Q526* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3598858 TET2 c.2044C>T p.H682Y Substitution - Missense Skin COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13891 MSH6 c.1868C>T p.P623L Substitution - Missense Skin COSM34211 ASXL1 c.2285_2286insT p.L762fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM29495 SMARCB1 c.1145delC p.P383fs*4 Deletion - Frameshift Central_nervous_system COSM51418 ARID1A c.5164C>T p.R1722* Substitution - Nonsense Large_intestine COSM51441 ARID1A c.5161C>T p.R1721* Substitution - Nonsense Oesophagus COSM53297 SMARCB1 c.565_566ins13 p.I189fs*26 Insertion - Frameshift Central_nervous_system COSM79136 ARID1A c.5122C>T p.Q1708* Substitution - Nonsense Stomach COSM75540 MYST1 c.256C>G p.R86G Substitution - Missense Ovary COSM75542 KAT6B c.4118A>G p.E1373G Substitution - Missense Large_intestine COSM99734 KDM6A c.3551_3551delA p.N1184fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM95426 UHRF1 c.967A>T p.N323Y Substitution - Missense Lung COSM87104 TET2 c.2474C>G p.S825* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM100083 KMT2C c.10313G>A p.G3438D Substitution - Missense Large_intestine COSM96381 ASXL1 c.2357G>A p.R786K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM121995 TAF1 c.3561A>G p.K1187K Substitution - coding silent Upper_aerodigestive_tract COSM136615 TRRAP c.3043C>T p.R1015W Substitution - Missense Large_intestine COSM140057 BAHD1 c.452C>T p.P151L Substitution - Missense Skin COSM148010 CREBBP c.2784G>A p.P928P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM250167 MEN1 c.625C>T p.Q209* Substitution - Nonsense Parathyroid COSM240083 HDAC9 c.2795C>T p.T932M Substitution - Missense Stomach COSM254673 EP300 c.4561G>C p.E1521Q Substitution - Missense Urinary_tract COSM41850 TET2 c.1630C>T p.R544* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM253778 NCOA7 c.1757G>C p.G586A Substitution - Missense Urinary_tract COSM297202 PRDM2 c.4459delA p.V1490fs*74 Deletion - Frameshift Stomach COSM311682 GTF3C1 c.4586G>A p.R1529K Substitution - Missense Lung COSM322809 PRDM9 c.1499C>A p.T500K Substitution - Missense Lung COSM317285 EP400 c.6296C>A p.S2099* Substitution - Nonsense Lung COSM335127 NCOA6 c.427C>T p.R143* Substitution - Nonsense Lung COSM355858 PCNA c.627G>T p.L209L Substitution - coding silent Lung COSM392205 INO80C c.303_305delGAA p.K101delK Deletion - In frame Lung COSM404576 PRMT8 c.762C>A p.A254A Substitution - coding silent Lung COSM414208 PRMT6 c.286G>C p.E96Q Substitution - Missense Urinary_tract COSM417946 CBX4 c.181G>A p.E61K Substitution - Missense Urinary_tract COSM415824 KMT2D c.6328C>T p.Q2110* Substitution - Nonsense Cervix COSM427250 MGMT c.456C>T p.S152S Substitution - coding silent Breast COSM430522 HNF1A c.79A>C p.I27L Substitution - Missense Liver COSM459201 CHD8 c.3991G>C p.D1331H Substitution - Missense Cervix COSM472971 MYST2 c.1312G>C p.V438L Substitution - Missense Kidney COSM988854 CXXC1 c.1888G>A p.A630T Substitution - Missense Endometrium COSM482777 NIPBL c.5575G>T p.D1859Y Substitution - Missense Kidney COSM1691146 MBD5 c.1522C>T p.P508S Substitution - Missense Skin COSM693649 KMT2D c.2002G>T p.E668* Substitution - Nonsense Lung COSM685482 SFMBT2 c.2182G>T p.D728Y Substitution - Missense Lung COSM679183 ACTA1 c.69C>T p.F23F Substitution - coding silent Breast COSM919618 SIRT1 c.2188G>T p.A730S Substitution - Missense Endometrium COSM716180 BAZ2B c.1984G>C p.D662H Substitution - Missense Lung COSM708174 AP001011.3_ENST00000320876 c.4008-1G>T p.? Unknown Lung COSM931021 KDM2A c.2259C>T p.R753R Substitution - coding silent Endometrium COSM1002776 TRIM28 c.393G>T p.E131D Substitution - Missense Endometrium COSM1067649 NIPBL c.1091G>A p.R364H Substitution - Missense Endometrium COSM1067669 NIPBL c.3130G>T p.D1044Y Substitution - Missense Endometrium COSM1099533 ASH2L c.415T>C p.F139L Substitution - Missense Endometrium COSM1167725 KMT2A c.1806delT p.P603fs*20 Deletion - Frameshift Skin COSM1238436 CBX8 c.1055G>C p.S352T Substitution - Missense Oesophagus COSM1184754 BMI1 c.418C>A p.Q140K Substitution - Missense Large_intestine COSM1200966 CHD3 c.5701C>T p.R1901C Substitution - Missense Large_intestine COSM1184243 ATXN7 c.2408C>T p.S803F Substitution - Missense Large_intestine COSM1184483 BAZ2A c.4583G>T p.R1528M Substitution - Missense Large_intestine COSM1583093 DNMT3A c.1998_1998delT p.C666fs*39 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1583146 DNMT3A c.2504C>T p.T835M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1178524 GTF3C4 c.2347T>G p.L783V Substitution - Missense Prostate COSM1180098 KMT2C c.1005T>A p.P335P Substitution - coding silent Soft_tissue COSM1169640 DNMT3A c.2202C>A p.F734L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1216528 KAT6B c.2584C>T p.P862S Substitution - Missense Large_intestine COSM1176877 HCFC2 c.776T>C p.I259T Substitution - Missense Endometrium COSM1225333 SETBP1 c.2489C>T p.S830F Substitution - Missense Large_intestine COSM1161253 SMARCA4 c.2918G>A p.R973Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1329952 KMT2C c.12935C>A p.A4312D Substitution - Missense Ovary COSM1321885 KMT2A c.3127C>G p.L1043V Substitution - Missense Ovary COSM1324091 PHF12 c.119G>A p.S40N Substitution - Missense Ovary COSM1392039 DOT1L c.1320C>T p.T440T Substitution - coding silent Large_intestine COSM1421065 ACTL6A c.750G>A p.W250* Substitution - Nonsense Large_intestine COSM1416492 EP300 c.5485C>T p.R1829C Substitution - Missense Prostate COSM1437262 NIPBL c.1801delA p.K603fs*11 Deletion - Frameshift Large_intestine COSM1362059 KMT2D c.1793G>A p.R598H Substitution - Missense Large_intestine COSM1349798 BTAF1 c.3197T>G p.F1066C Substitution - Missense Large_intestine COSM1491071 KDM5C c.3227_3228insACC p.L1076_T1077insP Insertion - In frame Breast COSM1612165 DPF1 c.169delG p.E57fs*49 Deletion - Frameshift Liver COSM1626103 TAF1 c.2796G>T p.W932C Substitution - Missense Liver COSM1628422 KDM2B c.967A>T p.M323L Substitution - Missense Liver COSM1639078 EP400 c.7337+2T>C p.? Unknown Stomach COSM1677486 EP400 c.2453G>A p.R818H Substitution - Missense Ovary COSM1659312 MBD1 c.1414C>T p.P472S Substitution - Missense Kidney COSM1716670 ATRX c.2979_2980insA p.P995fs*5 Insertion - Frameshift Central_nervous_system COSM1698422 STK31 c.1645G>A p.D549N Substitution - Missense Skin COSM1663014 NCOA2 c.2636G>A p.G879D Substitution - Missense Kidney COSM1747696 PRDM2 c.2637G>C p.K879N Substitution - Missense Urinary_tract COSM1724237 PRMT8 c.91T>C p.S31P Substitution - Missense Urinary_tract COSM2229096 EP400 c.3413G>A p.S1138N Substitution - Missense Upper_aerodigestive_tract COSM3108936 GTF3C1 c.1289C>T p.S430F Substitution - Missense Skin COSM3153146 EP300 c.3701_3702insA p.N1236fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3353860 CDYL c.643G>A p.E215K Substitution - Missense Large_intestine COSM3358496 PBRM1 c.3761_3762insT p.L1255fs*4 Insertion - Frameshift Kidney COSM3374315 TDRD6 c.2600C>A p.S867* Substitution - Nonsense Thyroid COSM3505518 CHD2 c.41C>T p.S14L Substitution - Missense Skin COSM3494928 CHD8 c.3982G>A p.E1328K Substitution - Missense Skin COSM3443949 KMT2A c.2509C>T p.P837S Substitution - Missense Skin COSM3471570 TRIM33 c.3265T>C p.L1089L Substitution - coding silent Skin COSM3636557 KMT2C c.947C>T p.T316I Substitution - Missense Skin COSM3624659 BAG6 c.593C>T p.P198L Substitution - Missense Skin COSM3620794 EYA4 c.509C>T p.S170L Substitution - Missense Skin COSM3660829 TET2 c.2201A>G p.Q734R Substitution - Missense Liver COSM3712650 SMCHD1 c.2522G>T p.S841I Substitution - Missense Upper_aerodigestive_tract COSM3726098 SMARCA4 c.3002C>A p.S1001Y Substitution - Missense Lung COSM3817655 GTF3C1 c.1908-1G>T p.? Unknown Breast COSM3967213 BTAF1 c.2703A>G p.I901M Substitution - Missense Central_nervous_system COSM4006667 KMT2C c.3340T>C p.C1114R Substitution - Missense Oesophagus COSM4043673 BAZ2A c.3916C>A p.L1306M Substitution - Missense Stomach COSM4041772 KDM5A c.2682G>A p.L894L Substitution - coding silent Stomach COSM4037738 KDM4D c.1572A>C p.*524Y Nonstop extension Stomach COSM4044291 CHD4 c.5194C>T p.R1732W Substitution - Missense Stomach COSM4044343 CHD4 c.2209T>C p.L737L Substitution - coding silent Stomach COSM4051447 ARID4A c.3049C>T p.R1017* Substitution - Nonsense Stomach COSM4092775 HDAC4 c.2989-2A>G p.? Unknown Stomach COSM4122504 SMARCA5 c.2446G>A p.E816K Substitution - Missense Stomach COSM4072478 CXXC1 c.373G>T p.G125W Substitution - Missense Stomach COSM4064172 NCOR1 c.1082+2T>C p.? Unknown Stomach COSM4130771 CHD3 c.4322T>G p.V1441G Substitution - Missense Thyroid COSM4147813 YY1 c.756A>C p.S252S Substitution - coding silent Thyroid COSM4164140 PHF2 c.2940C>T p.S980S Substitution - coding silent Thyroid COSM4167538 SFMBT2 c.334G>A p.G112R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4390695 BRWD3 c.171C>T p.F57F Substitution - coding silent Breast COSM4409315 KMT2C c.1255C>T p.Q419* Substitution - Nonsense Oesophagus COSM4517198 PHRF1 c.2964_2965CC>TT p.P989S Substitution - Missense Skin COSM4547791 BRWD1 c.4310G>A p.R1437K Substitution - Missense Skin COSM4485340 TDRD6 c.2921C>T p.S974F Substitution - Missense Skin COSM4495906 ARID1A c.4637C>T p.P1546L Substitution - Missense Skin COSM4586616 EHMT2 c.930A>G p.E310E Substitution - coding silent Bone COSM4469798 PHC3 c.125C>T p.S42L Substitution - Missense Skin COSM4451796 EYA4 c.1414A>C p.R472R Substitution - coding silent Skin COSM4723168 RUVBL1 c.1120-2delA p.? Unknown Large_intestine COSM4717525 PRDM9 c.1559G>T p.R520I Substitution - Missense Large_intestine COSM4770177 PBRM1 c.4576+5_4576+6insGAG p.? Unknown Soft_tissue COSM4725323 SFMBT2 c.2280C>T p.A760A Substitution - coding silent Large_intestine COSM4643076 HDGFL1 c.444C>T p.S148S Substitution - coding silent Large_intestine COSM4655605 KMT2D c.4078G>A p.D1360N Substitution - Missense Large_intestine COSM4612047 IDH2 c.435_436insG p.T146fs*126 Insertion - Frameshift Large_intestine COSM4788872 SETD1A c.1055C>G p.S352C Substitution - Missense Liver COSM4798543 EP400 c.4381G>A p.A1461T Substitution - Missense Liver COSM4885315 HDAC4 c.2653G>C p.G885R Substitution - Missense Upper_aerodigestive_tract COSM4928918 HNF1A c.511C>T p.R171* Substitution - Nonsense Liver COSM4921473 PHF21A c.107A>G p.Q36R Substitution - Missense Liver COSM4841614 C5orf35 c.670C>T p.L224L Substitution - coding silent Cervix COSM4968234 PRDM1 c.1750A>T p.K584* Substitution - Nonsense Adrenal_gland COSM4992938 KMT2C c.5583delG p.I1862fs*77 Deletion - Frameshift Skin COSM4983755 KDM6A c.1610C>A p.S537* Substitution - Nonsense Oesophagus COSM5019942 SETBP1 c.4000+10T>A p.? Unknown Soft_tissue COSM5017260 KMT2D c.3248A>G p.D1083G Substitution - Missense Kidney COSM5009480 KMT2C c.8040G>A p.Q2680Q Substitution - coding silent Soft_tissue COSM5051792 BAZ2A c.1037T>C p.V346A Substitution - Missense Stomach COSM5365902 NCOA3 c.3333T>C p.Y1111Y Substitution - coding silent Large_intestine COSM5380518 ARID1A c.4114C>T p.P1372S Substitution - Missense Skin COSM5463769 BRD3 c.835C>T p.R279W Substitution - Missense Large_intestine COSM5425831 ZBTB38 c.2425G>A p.A809T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5623505 ZBTB38 c.2750G>A p.R917H Substitution - Missense Oesophagus COSM5625729 JMJD1C c.3832A>G p.S1278G Substitution - Missense Oesophagus COSM5652790 MBD4 c.1136G>T p.G379V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5770864 JMJD1C c.6365C>T p.S2122L Substitution - Missense Breast COSM5730083 PHC3 c.144+2T>C p.? Unknown Skin COSM5748960 ZMYM3 c.2206C>T p.R736C Substitution - Missense Pancreas COSM5604833 SETBP1 c.1268C>T p.S423F Substitution - Missense Skin COSM5706400 EZH1 c.1901A>G p.Q634R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5567450 SETD1A c.4650C>T p.S1550S Substitution - coding silent Prostate COSM5944199 DNMT3A c.1261_1265delGGCCT p.L422fs*21 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5936194 CHD9 c.992C>T p.S331L Substitution - Missense Skin COSM5936342 PHF12 c.1892C>T p.S631F Substitution - Missense Skin COSM5928990 TRRAP c.628C>T p.R210* Substitution - Nonsense Skin COSM6002584 AKAP1 c.2199C>A p.F733L Substitution - Missense Prostate COSM5998656 TAF1L c.1832C>A p.S611* Substitution - Nonsense Prostate COSM5991765 SETD7 c.363_366delATAT p.Y122fs*8 Deletion - Frameshift Prostate COSM5969653 TDRD1 c.3275C>A p.T1092K Substitution - Missense Upper_aerodigestive_tract COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM53057 TET2 c.? p.K959fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM166348 DNMT3A c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4606370 PHF6 c.?_?insT p.C215fs*? Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5347195 ARID1A c.?_?ins? p.Q548fs*? Insertion - Frameshift Endometrium COSM4774844 SMARCB1 c.987_1158del172 p.? Unknown Soft_tissue COSM43117 TET2 c.1_6009del6009 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM86077 IDH2 c.? p.R172M Substitution - Missense Central_nervous_system COSM277631 TDG c.1114G>A p.E372K Substitution - Missense Large_intestine COSM395303 PRDM9 c.2298C>A p.H766Q Substitution - Missense Lung COSM5718770 ASXL3 c.1090G>A p.E364K Substitution - Missense Skin COSM4543695 GTF3C1 c.3429G>A p.K1143K Substitution - coding silent Skin COSM419984 SETD2 c.3376C>T p.H1126Y Substitution - Missense Kidney COSM4692496 ING3 c.171G>A p.W57* Substitution - Nonsense Large_intestine COSM3811944 KDM5A c.4098T>C p.S1366S Substitution - coding silent Breast COSM5958897 JMJD5 c.1009delT p.Y337fs*60 Deletion - Frameshift Thyroid COSM3353154 TDRD6 c.5985C>A p.F1995L Substitution - Missense Large_intestine COSM1019159 NCOA1 c.2725A>C p.I909L Substitution - Missense Endometrium COSM1356359 KDM2A c.2198G>A p.R733Q Substitution - Missense Large_intestine COSM3514567 NCOR1 c.641C>T p.A214V Substitution - Missense Skin COSM946206 RNF17 c.1738G>T p.D580Y Substitution - Missense Endometrium COSM352692 SMCHD1 c.463G>C p.E155Q Substitution - Missense Lung COSM4877885 KDM4A c.2807C>T p.S936F Substitution - Missense Prostate COSM727028 EP300 c.4241A>G p.Y1414C Substitution - Missense Soft_tissue COSM164775 TAF1 c.4538A>T p.N1513I Substitution - Missense Breast COSM4357132 PHIP c.2416C>T p.P806S Substitution - Missense Bone COSM3989395 KDM6B c.4269T>G p.A1423A Substitution - coding silent Kidney COSM5879098 EZH2 c.933T>A p.Y311* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1169520 KDM5C c.1880G>C p.R627P Substitution - Missense Kidney COSM2152568 KAT5 c.876C>T p.V292V Substitution - coding silent Central_nervous_system COSM4986209 MECP2 c.1197C>T p.P399P Substitution - coding silent Soft_tissue COSM1677940 BAZ1A c.3371C>A p.A1124D Substitution - Missense Large_intestine COSM4775802 ARID1A c.4801C>T p.P1601S Substitution - Missense Skin COSM3368902 MBD6 c.2254A>G p.T752A Substitution - Missense Thyroid COSM3871167 ATF7IP c.2652C>T p.A884A Substitution - coding silent Skin COSM129427 SRCAP c.4658C>T p.S1553L Substitution - Missense Upper_aerodigestive_tract COSM1023549 SMYD1 c.227G>A p.R76H Substitution - Missense Large_intestine COSM5878822 DNMT3A c.1653_1654insT p.N552fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5878811 DNMT3A c.1717C>T p.Q573* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM13867 EP300 c.4355C>T p.P1452L Substitution - Missense Upper_aerodigestive_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM231569 DNMT3A c.2134G>A p.D712N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2080308 ZMYM4 c.1840T>G p.L614V Substitution - Missense Large_intestine COSM5708610 TBL1XR1 c.21G>T p.E7D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM255037 ZMYND8 c.469G>C p.E157Q Substitution - Missense Cervix COSM251411 ARID2 c.5174C>G p.S1725* Substitution - Nonsense Liver COSM1635198 KMT2C c.2185A>G p.N729D Substitution - Missense Pancreas COSM249685 NCOR1 c.448G>A p.G150R Substitution - Missense Urinary_tract COSM4162008 KMT2C c.2578C>T p.P860S Substitution - Missense Thyroid COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Biliary_tract COSM3598862 TET2 c.2289C>T p.P763P Substitution - coding silent Skin COSM3026334 STK31 c.3032G>A p.R1011K Substitution - Missense Skin COSM1635196 KMT2C c.2304A>G p.S768S Substitution - coding silent Liver COSM3516718 PCGF2 c.451C>T p.L151L Substitution - coding silent Skin COSM4841240 BAZ2A_ENST00000379441 c.1480A>G p.K494E Substitution - Missense Cervix COSM1750767 DOT1L c.1599C>T p.L533L Substitution - coding silent Urinary_tract COSM5937326 TRRAP c.2488C>T p.P830S Substitution - Missense Skin COSM894491 TTF2 c.1914C>T p.D638D Substitution - coding silent Endometrium COSM972500 CTCF c.1704T>A p.N568K Substitution - Missense Endometrium COSM147495 KMT2D c.11700A>G p.P3900P Substitution - coding silent Soft_tissue COSM3589887 MECOM c.899C>T p.S300F Substitution - Missense Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3773384 ARID1A c.? p.I1485fs*5 Unknown Liver COSM5004851 ZMYM3 c.1073+4C>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM6006424 SMARCB1 c.582_583ins13 p.I195fs*20 Insertion - Frameshift Central_nervous_system COSM3360276 PRDM2 c.2493A>G p.K831K Substitution - coding silent Kidney COSM4599948 KDM1B c.345A>C p.K115N Substitution - Missense Upper_aerodigestive_tract COSM3452411 SUV420H1 c.1313C>T p.P438L Substitution - Missense Kidney COSM1215014 MGA c.7333C>T p.R2445* Substitution - Nonsense Skin COSM1945472 PRDM4 c.836G>A p.G279D Substitution - Missense Large_intestine COSM5398614 MECOM c.1054G>A p.D352N Substitution - Missense Skin COSM3830719 CDYL c.1366A>G p.I456V Substitution - Missense Breast COSM3650673 PRDM14 c.822C>T p.I274I Substitution - coding silent Skin COSM150428 KMT2C c.2958A>G p.P986P Substitution - coding silent Soft_tissue COSM3860671 KDM1B c.1136C>A p.T379N Substitution - Missense Stomach COSM400342 BAZ1A c.3352G>A p.E1118K Substitution - Missense Lung COSM1225388 SETD8 c.943G>A p.V315I Substitution - Missense Large_intestine COSM1606133 ARID2 c.1037C>T p.P346L Substitution - Missense Liver COSM5795750 ASH1L c.4375C>G p.P1459A Substitution - Missense Breast COSM3550721 BRWD1 c.854C>G p.S285C Substitution - Missense Skin COSM458027 HDAC8 c.932C>T p.T311M Substitution - Missense Breast COSM5957343 CDYL c.867C>A p.F289L Substitution - Missense Thyroid COSM1622167 MLL5 c.3797A>G p.Y1266C Substitution - Missense Liver COSM4665209 BAZ1B c.4066delG p.V1356fs*1 Deletion - Frameshift Large_intestine COSM1315844 ASXL1 c.3947G>A p.R1316H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5731029 SETD2 c.3680_3681delCT p.S1227fs*1 Deletion - Frameshift Breast COSM239319 CHD8 c.929T>A p.L310Q Substitution - Missense Prostate COSM5441754 PRDM13 c.277A>T p.I93F Substitution - Missense Oesophagus COSM1606525 CHD4 c.4375T>C p.Y1459H Substitution - Missense Liver COSM1201008 CHD7 c.2573G>A p.R858Q Substitution - Missense Large_intestine COSM4647916 SRCAP c.5392C>A p.L1798M Substitution - Missense Large_intestine COSM1287364 PRDM13 c.1427C>A p.T476N Substitution - Missense Autonomic_ganglia COSM4042375 KMT2D c.6410C>A p.P2137H Substitution - Missense Stomach COSM4162024 KMT2C c.946A>T p.T316S Substitution - Missense Upper_aerodigestive_tract COSM1666862 ARID1A c.? p.? Unknown Ovary COSM734380 GABRG1 c.1303C>T p.R435C Substitution - Missense Endometrium COSM3840205 SMYD1 c.96C>T p.I32I Substitution - coding silent Breast COSM3913118 MORF4L2 c.34G>A p.G12R Substitution - Missense Skin COSM5519823 L3MBTL2 c.1819G>A p.A607T Substitution - Missense Biliary_tract COSM23154 MEN1 c.673delG p.G225fs*56 Deletion - Frameshift Gastrointestinal_tract_(site_indeterminate) COSM5127726 ATRX c.6064C>A p.L2022I Substitution - Missense Large_intestine COSM4728432 SMCHD1 c.1928C>G p.S643* Substitution - Nonsense Large_intestine COSM3561746 KDM6A c.1544T>C p.V515A Substitution - Missense Skin COSM1339249 LBR c.775T>C p.F259L Substitution - Missense Large_intestine COSM4071905 ASXL3 c.2247T>C p.S749S Substitution - coding silent Stomach COSM5550975 TCF20 c.5752T>G p.C1918G Substitution - Missense Prostate COSM1129004 GTF3C1 c.3418C>A p.Q1140K Substitution - Missense Prostate COSM4959999 DNMT1 c.416G>A p.R139K Substitution - Missense Liver COSM4979389 EYA1 c.1281T>G p.G427G Substitution - coding silent Oesophagus COSM1755792 EYA1 c.230G>A p.R77Q Substitution - Missense Urinary_tract COSM5910975 SETBP1 c.1858A>C p.T620P Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4099052 EYA2 c.75T>C p.A25A Substitution - coding silent Stomach COSM3866157 RERE c.4045C>T p.R1349W Substitution - Missense Skin COSM252979 CLOCK c.368delT p.L123fs*1 Deletion - Frameshift Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4502745 TDRKH c.620C>T p.S207F Substitution - Missense Skin COSM920700 TAF3 c.1005G>A p.V335V Substitution - coding silent Endometrium COSM1103 SMARCB1 c.?_?del? p.?del Deletion - In frame Soft_tissue COSM158724 GATAD2B c.535C>T p.R179* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM2854196 PBRM1 c.773delA p.N258fs*25 Deletion - Frameshift Large_intestine COSM1076384 KDM1B c.1166A>C p.Q389P Substitution - Missense Endometrium COSM5483335 PRMT2 c.37C>T p.Q13* Substitution - Nonsense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4161996 KMT2C c.2763A>G p.L921L Substitution - coding silent Thyroid COSM3656094 EHMT1 c.3114C>T p.S1038S Substitution - coding silent Skin COSM5018833 KMT2C c.5152delA p.R1718fs*23 Deletion - Frameshift Soft_tissue COSM4573714 SIRT1 c.1906C>T p.R636W Substitution - Missense Bone COSM5878829 DNMT3A c.1576T>A p.Y526N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4127971 TRIM28 c.2347C>T p.Q783* Substitution - Nonsense Ovary COSM4036084 SUV420H1 c.1369C>A p.H457N Substitution - Missense Stomach COSM972496 CTCF c.1569C>A p.Y523* Substitution - Nonsense Endometrium COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4111142 ATRX c.3881A>G p.D1294G Substitution - Missense Stomach COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3648831 WHSC1L1 c.745C>T p.P249S Substitution - Missense Skin COSM3788658 SETDB1 c.3826G>C p.E1276Q Substitution - Missense Urinary_tract COSM5021830 MGA c.6054G>A p.K2018K Substitution - coding silent Bone COSM302469 KDM6A c.4001G>A p.C1334Y Substitution - Missense Central_nervous_system COSM254667 EP300 c.4454A>T p.D1485V Substitution - Missense Urinary_tract COSM246966 RBBP7 c.1076A>G p.E359G Substitution - Missense Prostate COSM3457192 KDM2B c.468G>A p.L156L Substitution - coding silent Skin COSM3730061 BRDT c.948G>A p.P316P Substitution - coding silent Stomach COSM1080951 PHF3 c.1889C>A p.P630H Substitution - Missense Endometrium COSM3304628 KMT2C c.988C>A p.H330N Substitution - Missense Prostate COSM445990 TBL1XR1 c.106C>T p.Q36* Substitution - Nonsense Breast COSM3954427 EP400 c.6232G>T p.E2078* Substitution - Nonsense Lung COSM1101421 NCOA2 c.690C>T p.F230F Substitution - coding silent Endometrium COSM282337 L3MBTL2 c.1145G>A p.R382Q Substitution - Missense Large_intestine COSM216318 CHD8 c.1424G>A p.R475H Substitution - Missense Pancreas COSM5549107 CHD6 c.6460G>A p.A2154T Substitution - Missense Prostate COSM254836 NCOR1 c.3016+1G>T p.? Unknown Urinary_tract COSM5778885 ATAD2B_ENST00000238789 c.978-1G>A p.? Unknown Breast COSM1083 SMARCB1 c.?_?del? p.?del Deletion - In frame Central_nervous_system COSM1720649 TBL1XR1 c.1250G>A p.S417N Substitution - Missense Skin COSM3378203 EZH1 c.1270G>A p.V424I Substitution - Missense Pancreas COSM5893658 EP400 c.7222C>T p.R2408C Substitution - Missense Skin COSM5603169 CHD1 c.1960T>G p.W654G Substitution - Missense Skin COSM3388786 DOT1L c.126-3C>T p.? Unknown Pancreas COSM5948691 RAI1 c.3804C>T p.T1268T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3719552 ASXL1 c.2422delC p.P808fs*10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3719552 ASXL1 c.2422delC p.P808fs*10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3985246 RERE c.3370C>G p.P1124A Substitution - Missense Kidney COSM4888109 HDAC11 c.1020G>A p.P340P Substitution - coding silent Upper_aerodigestive_tract COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1303237 BPTF c.1747A>G p.T583A Substitution - Missense Urinary_tract COSM4741192 WHSC1 c.84C>T p.L28L Substitution - coding silent Large_intestine COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3754329 TP53BP1 c.5058T>A p.S1686S Substitution - coding silent Large_intestine COSM5929690 SRCAP c.3079C>T p.P1027S Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1315517 KDM6A c.3182C>G p.S1061* Substitution - Nonsense Urinary_tract COSM4886823 SUV420H2 c.399G>C p.E133D Substitution - Missense Upper_aerodigestive_tract COSM5829731 PBRM1 c.3124-3delC p.? Unknown Large_intestine COSM1129764 UHRF1 c.1622G>A p.R541Q Substitution - Missense Prostate COSM3450618 PHRF1 c.1985C>T p.P662L Substitution - Missense Skin COSM3523218 KDM6B c.3861C>T p.S1287S Substitution - coding silent Skin COSM1732063 PBRM1 c.2638_2639insA p.C880fs*1 Insertion - Frameshift Kidney COSM3717857 SMCHD1 c.1430A>T p.K477M Substitution - Missense Liver COSM50955 EP400 c.5142G>A p.L1714L Substitution - coding silent Breast COSM5566044 CXXC1 c.1294C>T p.R432C Substitution - Missense Prostate COSM1381774 PHF12 c.2762G>A p.R921Q Substitution - Missense Large_intestine COSM5754220 ASH1L c.1952G>A p.G651E Substitution - Missense Large_intestine COSM266240 CHD7 c.2750C>T p.T917M Substitution - Missense Large_intestine COSM1330436 TRRAP c.4143G>T p.Q1381H Substitution - Missense Ovary COSM3732224 EP400 c.4069G>A p.A1357T Substitution - Missense Oesophagus COSM1681610 ASXL1 c.2388G>T p.W796C Substitution - Missense Large_intestine COSM5878966 TET2 c.2027_2028delTG p.C677fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1665368 BAP1 c.38-1_38delGG p.? Unknown Kidney COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4165906 KAT5 c.662G>C p.R221P Substitution - Missense Kidney COSM988845 MBD1 c.64C>T p.R22C Substitution - Missense Ovary COSM3978452 EPC1 c.265A>G p.I89V Substitution - Missense Lung COSM4655988 TDRD6 c.4287A>G p.K1429K Substitution - coding silent Large_intestine COSM3327566 SET c.748G>A p.E250K Substitution - Missense Skin COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5430626 DAXX c.264C>G p.L88L Substitution - coding silent Oesophagus COSM12927 STK31 c.2050C>T p.H684Y Substitution - Missense Lung COSM451603 CDYL c.1447G>A p.D483N Substitution - Missense Breast COSM4980593 ZMYM3 c.3382G>T p.E1128* Substitution - Nonsense Oesophagus COSM250959 GABRG1 c.580A>T p.N194Y Substitution - Missense Liver COSM1719512 KMT2C c.7612_7613CC>TT p.P2538F Substitution - Missense Skin COSM4101708 PRDM15 c.3560A>G p.K1187R Substitution - Missense Stomach COSM307768 ASXL1 c.1863_1873del11 p.L622fs*9 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85161 TAF1L c.3325A>G p.I1109V Substitution - Missense Pancreas COSM1672694 HDAC2 c.461T>C p.V154A Substitution - Missense Large_intestine COSM217148 CHD3 c.5323C>G p.P1775A Substitution - Missense Liver COSM96488 TET2 c.3820C>T p.Q1274* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM211965 TDRKH c.670G>A p.D224N Substitution - Missense Breast COSM5952872 BTAF1 c.2311T>G p.F771V Substitution - Missense Oesophagus COSM907686 ARID1A c.1469C>T p.P490L Substitution - Missense Endometrium COSM1377527 SETD1A c.1174delC p.P393fs*104 Deletion - Frameshift Large_intestine COSM312767 MBD6 c.1193C>G p.P398R Substitution - Missense Soft_tissue COSM3390467 FMR1 c.513+3G>A p.? Unknown Pancreas COSM3508968 SETD1A c.612C>T p.F204F Substitution - coding silent Skin COSM4951669 KDM2A c.2125G>T p.D709Y Substitution - Missense Liver COSM4155387 ING3 c.424A>T p.T142S Substitution - Missense Kidney COSM4590784 ATF7IP c.2647C>A p.Q883K Substitution - Missense Upper_aerodigestive_tract COSM225885 KMT2C c.1139G>T p.R380L Substitution - Missense Soft_tissue COSM419075 SMYD1 c.341T>G p.V114G Substitution - Missense Urinary_tract COSM3735013 SMARCA4 c.1687_1700del14 p.N563fs*83 Deletion - Frameshift Ovary COSM249275 KDM5C c.1553A>G p.H518R Substitution - Missense Kidney COSM4828446 ZMYM3 c.877C>T p.R293C Substitution - Missense Small_intestine COSM757635 TAF1 c.3837C>G p.C1279W Substitution - Missense Lung COSM3053496 SMEK2 c.452C>T p.S151L Substitution - Missense Kidney COSM397515 SETD1A c.2753C>T p.A918V Substitution - Missense Lung COSM5519745 PHF20 c.1541G>A p.R514Q Substitution - Missense Biliary_tract COSM110704 ASXL1 c.2822_2822delC p.P941fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM110675 DNMT3L c.1021_1023delGAA p.E341delE Deletion - In frame Skin COSM4926982 PRDM10 c.2027A>G p.Q676R Substitution - Missense Liver COSM1721158 BTAF1 c.138+9delT p.? Unknown Skin COSM4060712 CREBBP c.2843A>G p.Q948R Substitution - Missense Stomach COSM1413180 ZGPAT c.125A>T p.D42V Substitution - Missense Large_intestine COSM1307485 NCOA3 c.487G>A p.E163K Substitution - Missense Urinary_tract COSM1705517 HDAC7 c.383C>T p.S128F Substitution - Missense Skin COSM3463830 MBD6 c.2160C>T p.S720S Substitution - coding silent Skin COSM3515532 PHF12 c.1489C>T p.P497S Substitution - Missense Skin COSM3781610 ARID1B c.768C>A p.G256G Substitution - coding silent Kidney COSM5363377 SRCAP c.5649T>G p.P1883P Substitution - coding silent Large_intestine COSM4745792 HDAC9 c.1987C>T p.R663* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM2023460 PWWP2B c.251delC p.P86fs*100 Deletion - Frameshift Stomach COSM1133050 ARID1A c.5803G>T p.E1935* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM334239 RBBP5 c.695C>A p.T232K Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5725099 SIRT7 c.1117G>A p.G373S Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1044876 SETMAR c.1387_1388insA p.L464fs*3 Insertion - Frameshift Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5989636 TET2 c.2557delC p.L853fs*20 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5494555 ARID2 c.5356_5363+1delGGTCGCAGG p.? Unknown Biliary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM110818 BAP1 c.1_2190del2190 p.0? Whole gene deletion Peritoneum COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5020986 ATRX c.4368G>A p.E1456E Substitution - coding silent Soft_tissue COSM1741807 NSD1 c.4794G>C p.Q1598H Substitution - Missense Urinary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1386348 ZBTB4 c.11delC p.P4fs*4 Deletion - Frameshift Biliary_tract COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1741228 PRDM2 c.3445C>T p.L1149L Substitution - coding silent Urinary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3048327 SP140_ENST00000392045 c.865C>A p.Q289K Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1627257 MTF2 c.1751T>C p.L584P Substitution - Missense Liver COSM13368 TAF1L c.2625G>A p.G875G Substitution - coding silent Central_nervous_system COSM3834977 NCOA2 c.273T>G p.A91A Substitution - coding silent Breast COSM5752171 KMT2C c.13527_13545del19 p.K4509fs*2 Deletion - Frameshift Breast COSM5641352 MECOM c.49G>A p.E17K Substitution - Missense Oesophagus COSM3927767 DNMT3B c.1326C>A p.N442K Substitution - Missense Prostate COSM4498306 TCF20 c.5177C>T p.P1726L Substitution - Missense Skin COSM4533716 RAD54L c.2008G>A p.A670T Substitution - Missense Skin COSM5929407 KDM2B c.1388C>T p.S463F Substitution - Missense Skin COSM5556139 PHRF1 c.2717G>A p.G906D Substitution - Missense Prostate COSM3752612 MEN1 c.1254C>T p.D418D Substitution - coding silent Thyroid COSM5567957 PCGF2 c.857C>T p.S286F Substitution - Missense Skin COSM5995010 SETMAR c.1720C>T p.Q574* Substitution - Nonsense Prostate COSM1309588 TET2 c.1882G>A p.E628K Substitution - Missense Urinary_tract COSM280129 CREBBP c.4840T>C p.S1614P Substitution - Missense Large_intestine COSM282042 JMJD1C c.6411C>G p.D2137E Substitution - Missense Large_intestine COSM23065 MEN1 c.372_393del22 p.I125fs*53 Deletion - Frameshift Parathyroid COSM5730500 KMT2D c.10627C>T p.Q3543* Substitution - Nonsense Breast COSM137942 TRRAP c.280C>T p.L94F Substitution - Missense Skin COSM1262063 PHF21B c.1246G>A p.V416M Substitution - Missense Stomach COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM36168 ASXL1 c.1851_1852insT p.K618fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43006 EYA1 c.1460C>T p.S487L Substitution - Missense Central_nervous_system COSM73730 ARID4A c.1399C>G p.P467A Substitution - Missense Ovary COSM88745 CREBBP c.4508A>T p.Y1503F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM88746 CREBBP c.5035_5037delTCC p.S1680delS Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM87095 TET2 c.2083_2084insA p.M695fs*17 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM112021 ZBTB4 c.11_12insC p.A5fs*18 Insertion - Frameshift Ovary COSM96467 CREBBP c.4873A>T p.M1625L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM188275 MYST3 c.3201C>T p.I1067I Substitution - coding silent Endometrium COSM235270 RAI1 c.1563C>T p.S521S Substitution - coding silent Skin COSM225883 KMT2C c.2968A>G p.S990G Substitution - Missense Skin COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Central_nervous_system COSM246567 PHIP c.2258C>A p.S753* Substitution - Nonsense Prostate COSM241128 PHF12 c.1985C>A p.S662* Substitution - Nonsense Prostate COSM262336 NCOR1 c.3338G>A p.R1113Q Substitution - Missense Large_intestine COSM263602 SETD1A c.3328G>A p.E1110K Substitution - Missense Large_intestine COSM282814 KMT2A c.7044C>T p.I2348I Substitution - coding silent Large_intestine COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Large_intestine COSM306061 PHF6 c.821G>A p.R274Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM379334 WHSC1 c.3295G>A p.E1099K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM445526 RUVBL1 c.928G>A p.E310K Substitution - Missense Breast COSM465702 ERCC6 c.2089T>C p.L697L Substitution - coding silent Kidney COSM473722 AP001011.3_ENST00000320876 c.2579A>G p.D860G Substitution - Missense Kidney COSM980870 MYST2 c.1650G>T p.V550V Substitution - coding silent Endometrium COSM979863 HDAC5 c.2129G>A p.R710Q Substitution - Missense Endometrium COSM484585 MLL5 c.5006A>G p.H1669R Substitution - Missense Kidney COSM685254 TAF3 c.2670C>G p.Y890* Substitution - Nonsense Lung COSM1026069 NCOA6 c.4469C>T p.S1490L Substitution - Missense Skin COSM939296 KDM5A c.1912G>T p.E638* Substitution - Nonsense Endometrium COSM757230 KDM6A c.3154G>T p.E1052* Substitution - Nonsense Lung COSM702065 CHD2 c.4358C>G p.P1453R Substitution - Missense Lung COSM723108 DNMT3B c.584G>T p.S195I Substitution - Missense Lung COSM908667 ZMYM4 c.535C>T p.R179C Substitution - Missense Endometrium COSM1002775 TRIM28 c.393G>A p.E131E Substitution - coding silent Endometrium COSM1065867 DUSP1 c.1056T>A p.S352R Substitution - Missense Endometrium COSM969266 GTF3C1 c.1178T>C p.M393T Substitution - Missense Endometrium COSM970556 CREBBP c.5044C>T p.R1682C Substitution - Missense Endometrium COSM1130116 BAHCC1 c.1967G>T p.G656V Substitution - Missense Prostate COSM1235376 ARID1A c.3177_3178delGG p.E1060fs*44 Deletion - Frameshift Breast COSM1209173 GTF3C1 c.4993A>G p.N1665D Substitution - Missense Large_intestine COSM1184851 BPTF c.7905G>T p.K2635N Substitution - Missense Large_intestine COSM1184901 BRD7 c.286C>T p.R96W Substitution - Missense Large_intestine COSM1193884 SP110 c.1074G>A p.M358I Substitution - Missense Lung COSM1315339 HCFC1 c.1822C>G p.P608A Substitution - Missense Urinary_tract COSM1307866 DNMT3L c.1095G>A p.V365V Substitution - coding silent Urinary_tract COSM1390024 DNMT1 c.2619C>T p.Y873Y Substitution - coding silent Large_intestine COSM1429841 GABRG1 c.506G>A p.R169Q Substitution - Missense Prostate COSM1407120 DNMT3A c.575C>T p.A192V Substitution - Missense Large_intestine COSM1462651 KIAA2026_ENST00000399933 c.2069delA p.K690fs*3 Deletion - Frameshift Large_intestine COSM1361823 HDAC7 c.2343C>T p.V781V Substitution - coding silent Large_intestine COSM1611273 CXXC1 c.1671+10delT p.? Unknown Liver COSM1627079 KDM4A c.2362G>T p.A788S Substitution - Missense Liver COSM1620732 PRDM1 c.1515C>A p.P505P Substitution - coding silent Liver COSM1578180 MTA1 c.1259G>C p.C420S Substitution - Missense Lung COSM1628920 PHC1 c.42G>A p.G14G Substitution - coding silent Liver COSM1636942 MECP2 c.82T>G p.F28V Substitution - Missense Bone COSM1638214 HDAC7 c.2105T>G p.L702R Substitution - Missense Bone COSM1684535 SIRT7 c.359delG p.G121fs*20 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1670136 SETD2 c.649G>A p.G217R Substitution - Missense Skin COSM1644889 PHF2 c.443A>G p.D148G Substitution - Missense Salivary_gland COSM1681613 DNMT3B c.2020G>A p.E674K Substitution - Missense Large_intestine COSM1719201 KAT2B c.1915G>A p.D639N Substitution - Missense Skin COSM1736129 ATRX c.1783C>T p.L595F Substitution - Missense Central_nervous_system COSM1730206 TCF20 c.107A>G p.Q36R Substitution - Missense Liver COSM1757273 SMC1A c.2266C>T p.Q756* Substitution - Nonsense Urinary_tract COSM1731933 ARID1B c.840_841insGTGGCG p.A282_A283insVA Insertion - In frame Central_nervous_system COSM2059759 RNF134 c.297_299delGGA p.E99delE Deletion - In frame Breast COSM2051925 SMYD3 c.908delT p.F303fs*12 Deletion - Frameshift Large_intestine COSM2152399 HCFC1 c.117C>A p.L39L Substitution - coding silent Central_nervous_system COSM2098376 CHD4 c.4300C>T p.P1434S Substitution - Missense Central_nervous_system COSM2261793 YY1 c.422G>A p.G141D Substitution - Missense Stomach COSM2828731 SETD5_ENST00000402198 c.267A>T p.V89V Substitution - coding silent Upper_aerodigestive_tract COSM3017600 SHPRH c.2644C>T p.R882W Substitution - Missense Large_intestine COSM3153075 EP300 c.378G>T p.M126I Substitution - Missense Lung COSM3156882 HDAC2 c.829C>A p.L277I Substitution - Missense Large_intestine COSM3364154 KDM5C c.1938G>T p.E646D Substitution - Missense Kidney COSM3367385 CHD7 c.5620T>C p.S1874P Substitution - Missense Kidney COSM3488234 PRDM16 c.2650G>A p.E884K Substitution - Missense Skin COSM3422186 SETBP1 c.4392C>T p.F1464F Substitution - coding silent Large_intestine COSM3594792 SMARCC1 c.3189C>T p.P1063P Substitution - coding silent Skin COSM3696685 CLOCK c.815C>T p.P272L Substitution - Missense Large_intestine COSM3695422 DNMT3A c.1677C>T p.C559C Substitution - coding silent Upper_aerodigestive_tract COSM3729843 IDH1 c.13delA p.I5fs*7 Deletion - Frameshift Stomach COSM3727110 ARID1A c.2317C>T p.P773S Substitution - Missense Oesophagus COSM3750412 LMNA c.1698C>T p.H566H Substitution - coding silent Breast COSM3783105 ZBTB4 c.2254T>G p.S752A Substitution - Missense Prostate COSM3781973 L3MBTL3 c.2036C>A p.P679Q Substitution - Missense Pancreas COSM3816134 TP53BP1 c.4459G>A p.V1487I Substitution - Missense Breast COSM3942145 HDAC9 c.2665G>A p.E889K Substitution - Missense Oesophagus COSM3942706 CHD7 c.8424C>T p.N2808N Substitution - coding silent Large_intestine COSM3841024 CHD6 c.882T>G p.I294M Substitution - Missense Breast COSM3829473 JARID2 c.2718C>T p.L906L Substitution - coding silent Breast COSM3879608 KMT2C c.877G>A p.A293T Substitution - Missense Stomach COSM4022219 POGZ c.3236A>G p.H1079R Substitution - Missense Stomach COSM4054829 TP53BP1 c.5741T>C p.L1914S Substitution - Missense Stomach COSM4115477 ACTL6A c.1265A>C p.Q422P Substitution - Missense Stomach COSM4143992 KDM4A c.1445C>A p.A482E Substitution - Missense Thyroid COSM4144006 DMAP1 c.278G>A p.R93Q Substitution - Missense Thyroid COSM4162018 KMT2C c.2315C>T p.S772L Substitution - Missense Upper_aerodigestive_tract COSM4170158 TET2 c.4521delG p.A1508fs*63 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4186908 KDM5C c.703_704delAA p.K235fs*27 Deletion - Frameshift Kidney COSM4186280 PBRM1 c.4222G>T p.E1408* Substitution - Nonsense Kidney COSM4386730 CLOCK c.2520_2521insGA p.S841fs*>7 Insertion - Frameshift Lung COSM4602848 BPTF c.8028_8029insCCTCCAGCC p.P2684_P2685insAPP Insertion - In frame Upper_aerodigestive_tract COSM4563246 SMYD3 c.787G>A p.D263N Substitution - Missense Skin COSM4539788 PHF20 c.2736G>A p.K912K Substitution - coding silent Skin COSM4591258 PHF3 c.236G>T p.C79F Substitution - Missense Upper_aerodigestive_tract COSM4482482 HDAC4 c.2610C>T p.F870F Substitution - coding silent Skin COSM4453713 AIRE c.337A>G p.R113G Substitution - Missense Skin COSM4479358 BAZ2A c.2424C>T p.V808V Substitution - coding silent Skin COSM4770177 PBRM1 c.4576+5_4576+6insGAG p.? Unknown Soft_tissue COSM4725140 SETD1A c.1678G>T p.G560W Substitution - Missense Large_intestine COSM4770276 LBR c.1238G>A p.R413H Substitution - Missense Adrenal_gland COSM4748091 NSD1 c.5503delA p.A1837fs*12 Deletion - Frameshift Stomach COSM4777993 KIAA2026_ENST00000399933 c.5168T>C p.L1723P Substitution - Missense Prostate COSM4804013 LBR c.550G>T p.E184* Substitution - Nonsense Liver COSM4788254 ZMYM4 c.259A>G p.S87G Substitution - Missense Liver COSM4901442 RAG2 c.1554G>A p.K518K Substitution - coding silent Skin COSM4841743 SRCAP c.3191C>T p.S1064F Substitution - Missense Cervix COSM4837111 PHRF1 c.4714G>A p.E1572K Substitution - Missense Cervix COSM4855674 ATF2 c.1082G>A p.R361Q Substitution - Missense Cervix COSM4829297 TDRD6 c.519G>T p.V173V Substitution - coding silent Cervix COSM4953556 ZMYM2 c.3568+1G>C p.? Unknown Liver COSM4950200 MLL5 c.4640C>T p.P1547L Substitution - Missense Liver COSM4974947 PRDM9 c.175A>T p.N59Y Substitution - Missense Oesophagus COSM5030270 PRDM10 c.1614G>A p.K538K Substitution - coding silent Bone COSM5059513 ACTL6A c.211G>T p.D71Y Substitution - Missense Stomach COSM5052545 SETDB1 c.1164C>A p.I388I Substitution - coding silent Stomach COSM5230004 SET c.696_698delAGA p.E234delE Deletion - In frame Breast COSM5043727 BAP1 c.551A>T p.D184V Substitution - Missense Liver COSM5410669 BRD3 c.1492G>A p.E498K Substitution - Missense Skin COSM5511990 WHSC1 c.4021_4022insC p.E1344fs*>23 Insertion - Frameshift Biliary_tract COSM5474958 CDYL c.592G>A p.V198M Substitution - Missense Large_intestine COSM5429200 ZMYND8 c.620A>C p.E207A Substitution - Missense Oesophagus COSM5432243 TRRAP c.6275A>T p.D2092V Substitution - Missense Oesophagus COSM5451260 ARID2 c.1307T>A p.I436N Substitution - Missense Large_intestine COSM5641558 ARID1B c.1155C>T p.P385P Substitution - coding silent Oesophagus COSM5642348 KMT2D c.14597A>G p.H4866R Substitution - Missense Oesophagus COSM5722205 ARID4A c.493G>C p.E165Q Substitution - Missense Skin COSM5730176 SETBP1 c.3507_3508ins12 p.L1173_F1174insLSGL Insertion - In frame Skin COSM5720583 BRPF3 c.1092C>T p.P364P Substitution - coding silent Skin COSM5578963 MECOM c.1328C>T p.S443L Substitution - Missense Skin COSM5606345 BAZ1A c.343C>T p.R115* Substitution - Nonsense Skin COSM5553477 KMT2D c.13138G>T p.E4380* Substitution - Nonsense Prostate COSM5762963 TET2 c.3818G>A p.C1273Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5782034 BPTF c.5941A>C p.N1981H Substitution - Missense Breast COSM5884819 EHMT1 c.3655A>G p.K1219E Substitution - Missense Large_intestine COSM5935875 ING4 c.646-7C>T p.? Unknown Skin COSM5954600 AP001011.3_ENST00000320876 c.5537_5538insT p.R1847fs*1 Insertion - Frameshift Upper_aerodigestive_tract COSM5999025 TRDMT1 c.667T>G p.S223A Substitution - Missense Prostate COSM34201 MSH6 c.? p.? Unknown Endometrium COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1685350 EZH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM256008 PHF6 c.1_1098del1098 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM144695 PHF6 c.? p.F172fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM1738136 TET2 c.? p.Q976* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM221601 TET2 c.4537+2T>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4552946 DNMT3A c.576G>A p.A192A Substitution - coding silent Skin COSM1076376 KDM1B c.502C>T p.R168* Substitution - Nonsense Endometrium COSM122851 EP300 c.4195G>A p.D1399N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM26409 SMARCB1 c.12_13insATG p.M4_A5insM Insertion - In frame Soft_tissue COSM135923 CBX7 c.586C>T p.P196S Substitution - Missense Skin COSM3759496 KDM6A c.2177C>A p.T726K Substitution - Missense Soft_tissue COSM5888366 ASXL3 c.1757C>T p.S586L Substitution - Missense Upper_aerodigestive_tract COSM133574 ASXL1 c.2100T>A p.Y700* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5914735 PHF13 c.224C>T p.S75L Substitution - Missense Skin COSM750812 PRDM14 c.750A>G p.P250P Substitution - coding silent Lung COSM41644 TET2 c.1648C>T p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5567742 MBD5 c.678A>T p.S226S Substitution - coding silent Prostate COSM139009 SRCAP c.1930G>C p.E644Q Substitution - Missense Skin COSM1644078 ATRX c.527_528insC p.Q176fs*13 Insertion - Frameshift Stomach COSM4885923 ATAT1 c.15C>A p.F5L Substitution - Missense Upper_aerodigestive_tract COSM5767809 PHF14 c.1882A>T p.M628L Substitution - Missense Breast COSM5611408 TRRAP c.6098_6099CC>TT p.S2033F Substitution - Missense Skin COSM5923837 EHMT1 c.2620G>A p.E874K Substitution - Missense Skin COSM1679533 KDM6B c.1033G>A p.E345K Substitution - Missense Large_intestine COSM1704632 KMT2A c.5519C>T p.P1840L Substitution - Missense Skin COSM443954 NCOA3 c.3762A>G p.Q1254Q Substitution - coding silent Large_intestine COSM3883740 TRRAP c.6280A>G p.T2094A Substitution - Missense Stomach COSM3670857 KAT5 c.1183A>G p.T395A Substitution - Missense Prostate COSM5654867 TDRD1 c.1952A>C p.E651A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1635198 KMT2C c.2185A>G p.N729D Substitution - Missense Upper_aerodigestive_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM360341 MLL5 c.3481G>A p.E1161K Substitution - Missense Lung COSM3457034 SIRT4 c.892C>A p.L298M Substitution - Missense Skin COSM3807468 JMJD1C c.3578G>T p.G1193V Substitution - Missense Breast COSM2720082 CHD7 c.4778G>A p.R1593H Substitution - Missense Large_intestine COSM1057 SMARCB1 c.1148delC p.P383fs*>3 Deletion - Frameshift Central_nervous_system COSM3446221 PRMT3 c.324C>T p.S108S Substitution - coding silent Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3875082 PHF3 c.2089A>C p.I697L Substitution - Missense Stomach COSM5787808 PRDM10 c.2080G>C p.E694Q Substitution - Missense Breast COSM191154 CHD9 c.8173C>A p.L2725M Substitution - Missense Endometrium COSM4010296 RERE c.836T>C p.L279P Substitution - Missense Stomach COSM4062126 PRMT7 c.510T>A p.N170K Substitution - Missense Stomach COSM371133 L3MBTL2 c.1557G>A p.S519S Substitution - coding silent Lung COSM79348 CREBBP c.4021C>T p.R1341* Substitution - Nonsense Central_nervous_system COSM4841888 KAT5 c.1469C>A p.S490Y Substitution - Missense Cervix COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1245226 APOBEC1 c.147G>T p.K49N Substitution - Missense Oesophagus COSM4671301 CDYL2 c.748C>T p.R250* Substitution - Nonsense Skin COSM2105509 KMT2A c.5590delC p.P1865fs*3 Deletion - Frameshift Breast COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5889240 ARID4A c.2960C>T p.S987F Substitution - Missense Skin COSM4689693 HDAC6 c.3091_3092insC p.T1034fs*55 Insertion - Frameshift Breast COSM3947305 NSD1 c.3763A>T p.S1255C Substitution - Missense Lung COSM3986772 EP400 c.6141G>A p.V2047V Substitution - coding silent Kidney COSM1074194 SHPRH c.2572C>A p.L858I Substitution - Missense Endometrium COSM5009142 TAF1L c.3012G>T p.K1004N Substitution - Missense Large_intestine COSM5762896 KMT2A c.6691G>A p.G2231R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3749702 ACTR5 c.18C>T p.F6F Substitution - coding silent Large_intestine COSM133579 ASXL1 c.2095_2096insGC p.P699fs*5 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4406227 CBX6 c.405C>T p.P135P Substitution - coding silent Skin COSM5936451 DOT1L c.1265C>T p.P422L Substitution - Missense Skin COSM4590719 KAT2A c.1583C>T p.S528F Substitution - Missense Upper_aerodigestive_tract COSM908424 PHC2 c.2078C>T p.A693V Substitution - Missense Endometrium COSM5457213 CHD1 c.1879T>C p.Y627H Substitution - Missense Large_intestine COSM1741245 HDAC7 c.784G>T p.A262S Substitution - Missense Urinary_tract COSM5664955 CHD9 c.4024G>T p.G1342C Substitution - Missense Soft_tissue COSM5015436 CHD3 c.1577C>T p.A526V Substitution - Missense Kidney COSM1416756 PHF21B c.1477C>T p.Q493* Substitution - Nonsense Large_intestine COSM4431025 UHRF2 c.2267G>A p.C756Y Substitution - Missense Oesophagus COSM133125 DNMT3A c.1123-2A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3661546 HDAC3 c.936G>A p.S312S Substitution - coding silent Liver COSM4432356 IDH1 c.928G>A p.G310R Substitution - Missense Large_intestine COSM1412259 NCOA3 c.3792A>G p.Q1264Q Substitution - coding silent Kidney COSM1078017 DAXX c.1378G>T p.D460Y Substitution - Missense Endometrium COSM970133 MYST1 c.812T>A p.L271Q Substitution - Missense Endometrium COSM144495 DNMT3A c.2322+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1666938 DNMT3A c.? p.V399A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87178 TET2 c.5283_5283delC p.H1761fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4663930 ATAD2 c.770G>A p.G257D Substitution - Missense Large_intestine COSM3636479 KMT2C c.9853C>T p.Q3285* Substitution - Nonsense Skin COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3801829 POGZ c.2116G>A p.D706N Substitution - Missense Breast COSM3700133 SUV420H1 c.1643T>A p.L548Q Substitution - Missense Liver COSM211735 TET2 c.4600C>T p.Q1534* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5648060 PHC3 c.921A>G p.I307M Substitution - Missense Oesophagus COSM5613284 BTAF1 c.4030G>T p.E1344* Substitution - Nonsense Lung COSM5372424 RAG2 c.956G>A p.G319E Substitution - Missense Skin COSM3973952 ATRX c.595-2A>C p.? Unknown Central_nervous_system COSM3727066 ARID1B c.2705T>C p.M902T Substitution - Missense Skin COSM161878 KDM1A c.775G>A p.E259K Substitution - Missense Breast COSM5770746 DOT1L c.3543C>T p.S1181S Substitution - coding silent Breast COSM4422885 KDM4B c.1154_1160delCCGAAGA p.E386fs*14 Deletion - Frameshift Kidney COSM3283285 BRD4 c.1379A>G p.E460G Substitution - Missense Large_intestine COSM1254833 ING3 c.219G>T p.L73F Substitution - Missense Oesophagus COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3283243 BRD4 c.2108C>T p.S703L Substitution - Missense Large_intestine COSM1578126 ASXL1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1615603 CHD6 c.603G>A p.R201R Substitution - coding silent Liver COSM1362057 KMT2D c.2885delG p.G962fs*95 Deletion - Frameshift Large_intestine COSM1017660 SP100 c.1742C>T p.P581L Substitution - Missense Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4518163 ZGPAT c.549_550CC>TT p.(=) Unknown Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4787650 BRWD1 c.4298G>T p.R1433L Substitution - Missense Liver COSM228660 SUZ12 c.1284A>G p.I428M Substitution - Missense Skin COSM4878329 PHRF1 c.1837C>A p.R613R Substitution - coding silent Prostate COSM3406422 HDAC6 c.178G>A p.G60S Substitution - Missense Central_nervous_system COSM5800997 KMT2C c.1221_1222insA p.T408fs*3 Insertion - Frameshift Breast COSM3523598 BAHCC1 c.6504C>T p.F2168F Substitution - coding silent Skin COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM5569349 RAI1 c.5496C>T p.T1832T Substitution - coding silent Prostate COSM254575 BTAF1 c.1486C>T p.L496F Substitution - Missense Urinary_tract COSM4730982 SUV39H2 c.554delA p.G187fs*19 Deletion - Frameshift Large_intestine COSM6000768 BAZ2A c.5458C>A p.P1820T Substitution - Missense Prostate COSM5945699 ATRX c.? p.D789V Substitution - Missense Central_nervous_system COSM24832 HNF1A c.685C>T p.R229* Substitution - Nonsense Liver COSM5053436 ZMYM4 c.3054A>G p.P1018P Substitution - coding silent Stomach COSM4759055 HELLS c.284A>C p.K95T Substitution - Missense Stomach COSM3377715 MGA c.7454G>A p.R2485H Substitution - Missense Large_intestine COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM366713 UHRF2 c.1076A>G p.Q359R Substitution - Missense Lung COSM4519143 SMARCA4 c.995_996CC>TT p.S332F Substitution - Missense Skin COSM4040251 EP400 c.4282T>C p.F1428L Substitution - Missense Stomach COSM307767 ASXL1 c.1902_1924del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4003461 NSD1 c.6829T>C p.L2277L Substitution - coding silent Soft_tissue COSM1087501 KMT2C c.14416C>T p.R4806* Substitution - Nonsense Endometrium COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87161 TET2 c.4138C>T p.H1380Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5907797 HDAC6 c.2486G>A p.R829K Substitution - Missense Skin COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM977048 PHF12 c.2654T>G p.I885S Substitution - Missense Endometrium COSM4169567 MSH6 c.? p.A1021G Substitution - Missense Central_nervous_system COSM3991211 ING5 c.681G>T p.W227C Substitution - Missense Kidney COSM4660053 ADNP c.3236A>G p.N1079S Substitution - Missense Large_intestine COSM1028977 DIDO1 c.3980C>A p.S1327* Substitution - Nonsense Endometrium COSM4008295 KDM4A c.107C>T p.S36F Substitution - Missense Stomach COSM4113230 RUVBL1 c.1084C>T p.R362W Substitution - Missense Stomach COSM4016612 BTAF1 c.5325G>A p.A1775A Substitution - coding silent Stomach COSM3879966 HDAC9 c.211C>T p.Q71* Substitution - Nonsense Stomach COSM753014 EHMT1 c.801G>T p.L267L Substitution - coding silent Lung COSM447890 GABRG1 c.1168C>A p.P390T Substitution - Missense Breast COSM5751719 TDRD6 c.943T>GT p.S315fs*19 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM4853317 CHD8 c.6225G>C p.L2075F Substitution - Missense Cervix COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4169433 KDM6A c.? p.P921L Substitution - Missense Skin COSM4059656 GTF3C1 c.2516C>T p.A839V Substitution - Missense Stomach COSM993744 DOT1L c.1232G>A p.R411H Substitution - Missense Endometrium COSM3434290 TDRD1 c.949G>A p.E317K Substitution - Missense Skin COSM742770 TDRD6 c.791G>T p.R264L Substitution - Missense Lung COSM27946 SMARCB1 c.132_133insTGTAC p.K45fs*12 Insertion - Frameshift Central_nervous_system COSM1159395 PHIP c.1428G>A p.P476P Substitution - coding silent Pancreas COSM4130750 KDM6B c.2145C>T p.H715H Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM985382 KDM6B c.2253_2258delCACCAC p.T761_T762delTT Deletion - In frame Endometrium COSM5369314 KDM5A c.1768G>C p.D590H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4603246 RNF134 c.84_85insGCCTCC p.P28_V29insAS Insertion - In frame Upper_aerodigestive_tract COSM4703376 MSH6 c.741A>T p.K247N Substitution - Missense Large_intestine COSM3531575 DOT1L c.2327C>T p.P776L Substitution - Missense Skin COSM5663019 ATRX c.3200C>A p.S1067* Substitution - Nonsense Soft_tissue COSM4700957 MBD1 c.392G>T p.G131V Substitution - Missense Large_intestine COSM328978 KMT2C c.8390delA p.K2797fs*26 Deletion - Frameshift Salivary_gland COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4609577 GLYR1 c.811G>C p.G271R Substitution - Missense Adrenal_gland COSM4443464 KAT2B c.1339G>T p.G447W Substitution - Missense Large_intestine COSM1124876 TAF1 c.1463C>T p.A488V Substitution - Missense Endometrium COSM1732190 PBRM1 c.210delG p.E70fs*25 Deletion - Frameshift Kidney COSM256033 DNMT3A c.1628G>C p.G543A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM423278 PBRM1 c.3008_3009insA p.T1004fs*16 Insertion - Frameshift Kidney COSM5520999 MGA c.8187A>G p.P2729P Substitution - coding silent Biliary_tract COSM4163285 PHF19 c.407A>C p.D136A Substitution - Missense Upper_aerodigestive_tract COSM3341015 NSD1 c.589A>C p.T197P Substitution - Missense Upper_aerodigestive_tract COSM3490035 KDM4A c.1779C>T p.S593S Substitution - coding silent Skin COSM5975362 KDM3B c.1373C>T p.S458L Substitution - Missense Upper_aerodigestive_tract COSM4728269 SMARCA2 c.421G>T p.G141* Substitution - Nonsense Large_intestine COSM5941072 CBX6 c.238C>T p.L80F Substitution - Missense Skin COSM4655866 MSH6 c.846G>C p.V282V Substitution - coding silent Large_intestine COSM443948 ZMYND8 c.2435C>T p.P812L Substitution - Missense Breast COSM53031 EZH2 c.965A>G p.N322S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3724721 TAF1L c.4236C>A p.I1412I Substitution - coding silent Lung COSM5879932 KDM6A c.1242_1246ATTAC>GAT p.L415fs*3 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM2157050 ATF7IP c.3501G>A p.K1167K Substitution - coding silent Central_nervous_system COSM1312575 PHF14 c.1730G>A p.R577H Substitution - Missense Pancreas COSM907730 ARID1A c.4856C>T p.P1619L Substitution - Missense Endometrium COSM4967726 SETD1B c.1399A>C p.T467P Substitution - Missense Pancreas COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5999741 EED c.1263T>C p.D421D Substitution - coding silent Prostate COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Bone COSM219144 TET2 c.787_787delG p.E263fs*30 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM478053 NCOA6 c.2630A>T p.N877I Substitution - Missense Kidney COSM5906256 EYA3 c.1202C>T p.S401L Substitution - Missense Skin COSM5990195 HNF1A c.60G>T p.G20G Substitution - coding silent Liver COSM4448298 UHRF1 c.536G>A p.R179Q Substitution - Missense Skin COSM1414222 PRDM15 c.2272C>T p.R758C Substitution - Missense Large_intestine COSM1423580 SETD2 c.815T>G p.V272G Substitution - Missense Skin COSM41742 TET2 c.5152G>T p.V1718L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1312269 TDRD6 c.4851C>G p.L1617L Substitution - coding silent Urinary_tract COSM4210588 CHD4 c.400G>A p.E134K Substitution - Missense Large_intestine COSM1369001 CHD8 c.3450T>G p.H1150Q Substitution - Missense Large_intestine COSM4484641 ERCC6 c.2834G>A p.R945Q Substitution - Missense Skin COSM3525456 ASXL3 c.2213C>T p.S738F Substitution - Missense Skin COSM5513183 SRCAP c.1117delC p.P374fs*6 Deletion - Frameshift Biliary_tract COSM457598 HDAC6 c.3181G>A p.E1061K Substitution - Missense Endometrium COSM4385236 EP300 c.748C>T p.P250S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1737794 KIAA2026_ENST00000399933 c.3566C>T p.P1189L Substitution - Missense Central_nervous_system COSM5887661 ATF2 c.976C>T p.P326S Substitution - Missense Upper_aerodigestive_tract COSM3874527 TDRD6 c.2710C>T p.Q904* Substitution - Nonsense Stomach COSM1639526 ASH1L c.5843C>A p.P1948Q Substitution - Missense Stomach COSM1034986 PHF21B c.1206G>T p.K402N Substitution - Missense Adrenal_gland COSM1472509 PRDM2 c.831_832insGAA p.E282_D283insE Insertion - In frame Upper_aerodigestive_tract COSM5766536 KIAA2026_ENST00000399933 c.2686+5G>C p.? Unknown Large_intestine COSM4072254 SETBP1 c.4062A>C p.S1354S Substitution - coding silent Stomach COSM311723 HDAC6 c.2800C>T p.L934L Substitution - coding silent Soft_tissue COSM743361 PHF3 c.2596C>A p.R866R Substitution - coding silent Lung COSM5423274 PHF16 c.2375A>G p.D792G Substitution - Missense Prostate COSM3620822 EYA4 c.1306G>A p.D436N Substitution - Missense Skin COSM43426 TET2 c.4977T>G p.Y1659* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4929728 PRDM8 c.666C>A p.G222G Substitution - coding silent Liver COSM1186404 MBD4 c.217C>T p.Q73* Substitution - Nonsense Lung COSM1245991 BAZ1B c.3636T>C p.F1212F Substitution - coding silent Oesophagus COSM5944133 TET2 c.3765_3765delC p.Y1255fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1676476 KMT2A c.11795G>A p.R3932H Substitution - Missense Ovary COSM37029 EZH2 c.1937A>C p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5902727 BRD8 c.2968G>A p.E990K Substitution - Missense Skin COSM3764645 SIRT7 c.876G>A p.K292K Substitution - coding silent Central_nervous_system COSM5014014 JHDM1D c.1192T>C p.F398L Substitution - Missense Kidney COSM4936054 TFPT c.503C>T p.P168L Substitution - Missense Liver COSM87002 DNMT3A c.1627G>T p.G543C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1707390 ARID4A c.3301G>T p.E1101* Substitution - Nonsense Skin COSM4000327 CBX4 c.871T>C p.S291P Substitution - Missense Upper_aerodigestive_tract COSM3832058 JHDM1D c.1553A>G p.N518S Substitution - Missense Breast COSM3479271 TDRD5 c.302G>A p.R101Q Substitution - Missense Skin COSM4070327 CHD3 c.350G>A p.R117Q Substitution - Missense Stomach COSM3984331 HDGF c.613G>A p.G205S Substitution - Missense Kidney COSM4818429 SHPRH c.514G>A p.D172N Substitution - Missense Cervix COSM84917 CHD1 c.4734T>G p.S1578S Substitution - coding silent Pancreas COSM288609 MBD5 c.3755G>T p.R1252I Substitution - Missense Large_intestine COSM5754921 CDYL2 c.1360G>T p.V454L Substitution - Missense Large_intestine COSM5711649 KDM6A c.2035C>A p.Q679K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM417180 NCOR1 c.1879C>T p.R627* Substitution - Nonsense Urinary_tract COSM1617861 BAP1 c.2137C>T p.R713W Substitution - Missense Liver COSM5753450 BMI1 c.930T>G p.N310K Substitution - Missense Large_intestine COSM961415 RTF1 c.712C>T p.R238* Substitution - Nonsense Skin COSM374827 EYA4 c.812C>A p.P271Q Substitution - Missense Lung COSM158733 SUZ12 c.488G>A p.G163D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5352284 ARID1A c.? p.A1272V Substitution - Missense Endometrium COSM5364102 MBTD1 c.1183C>T p.P395S Substitution - Missense Large_intestine COSM1749157 TP53BP1 c.3056C>T p.S1019F Substitution - Missense Urinary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM122894 ERCC6 c.2783G>C p.R928T Substitution - Missense Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5731366 KDM6B c.4500C>T p.Y1500Y Substitution - coding silent Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1607480 CHD8 c.6906A>T p.E2302D Substitution - Missense Liver COSM3883704 TRRAP c.1980G>T p.E660D Substitution - Missense Stomach COSM5046912 KMT2D c.4438G>T p.E1480* Substitution - Nonsense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4834678 ERCC6 c.3080C>G p.S1027* Substitution - Nonsense Cervix COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3989054 HDAC5 c.2686G>T p.D896Y Substitution - Missense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4957101 MSH6 c.1097A>T p.Y366F Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1377474 SRCAP c.5625_5626insC p.P1879fs*21 Insertion - Frameshift Large_intestine COSM3652167 TDRD7 c.749A>G p.N250S Substitution - Missense Skin COSM723134 ASXL1 c.160G>T p.A54S Substitution - Missense Lung COSM708182 SMCHD1 c.1919C>G p.S640C Substitution - Missense Lung COSM3656481 SMARCA2 c.143C>T p.P48L Substitution - Missense Skin COSM5480719 KDM5A c.165+5C>T p.? Unknown Large_intestine COSM1204715 DUSP1 c.979G>A p.A327T Substitution - Missense Large_intestine COSM177163 JARID2 c.490C>T p.R164* Substitution - Nonsense Skin COSM4976469 TBL1XR1 c.694G>C p.D232H Substitution - Missense Oesophagus COSM5041215 CHD9 c.1547A>G p.K516R Substitution - Missense Liver COSM4886195 SMYD4 c.1213G>A p.V405I Substitution - Missense Upper_aerodigestive_tract COSM251412 ARID2 c.1073C>G p.T358S Substitution - Missense Liver COSM30577 SMARCA4 c.2653C>T p.R885C Substitution - Missense Large_intestine COSM33732 IDH2 c.515G>T p.R172M Substitution - Missense Central_nervous_system COSM5703381 ZBTB33 c.1392delA p.T466fs*11 Deletion - Frameshift Autonomic_ganglia COSM1388505 ASXL3 c.2769T>G p.I923M Substitution - Missense Large_intestine COSM4736767 TRRAP c.2409G>T p.K803N Substitution - Missense Large_intestine COSM1457755 CHD7 c.8956delG p.D2988fs*3 Deletion - Frameshift Large_intestine COSM3555055 TCF20 c.2444C>T p.P815L Substitution - Missense Skin COSM4111132 ATRX c.6503A>G p.Q2168R Substitution - Missense Stomach COSM3579806 HDAC4 c.1447C>T p.Q483* Substitution - Nonsense Skin COSM3858409 EYA4 c.875C>T p.A292V Substitution - Missense Oesophagus COSM3939870 MECP2 c.1018A>C p.K340Q Substitution - Missense Oesophagus COSM3604095 GABRG1 c.586C>T p.P196S Substitution - Missense Skin COSM132968 ASXL1 c.? p.E635fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM3660322 MECOM c.1511C>A p.P504H Substitution - Missense Liver COSM1641926 MSH6 c.4049T>C p.V1350A Substitution - Missense Stomach COSM3731481 PCGF6 c.666T>C p.P222P Substitution - coding silent Stomach COSM4775757 CHD4 c.3338A>T p.N1113I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1479265 NCOR1 c.5374C>T p.Q1792* Substitution - Nonsense Breast COSM2834868 CHD9 c.3111T>C p.F1037F Substitution - coding silent Large_intestine COSM1176879 TRRAP c.3251C>T p.S1084L Substitution - Missense Skin COSM5756329 ACTR8 c.609T>C p.A203A Substitution - coding silent Large_intestine COSM30421 SETD2 c.1689C>G p.L563L Substitution - coding silent Breast COSM4169542 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3087177 BAZ1B c.621delA p.G208fs*17 Deletion - Frameshift Breast COSM1251615 EYA1 c.1542G>C p.L514L Substitution - coding silent Oesophagus COSM1109530 UHRF2 c.1311A>C p.R437S Substitution - Missense Endometrium COSM21744 SMARCC1 c.1495C>T p.R499C Substitution - Missense Skin COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM30573 SMARCA4 c.729delC p.P244fs*59 Deletion - Frameshift Pancreas COSM46431 HNF1A c.105_144>TTC p.Y36fs*107 Complex - frameshift Liver COSM72607 SETD2 c.3890T>A p.I1297N Substitution - Missense Ovary COSM87107 TET2 c.2604T>G p.F868L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM133672 IDH2 c.516G>C p.R172S Substitution - Missense Bone COSM139369 SMYD3 c.418C>T p.P140S Substitution - Missense Skin COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Upper_aerodigestive_tract COSM158751 BRPF1 c.2960T>C p.V987A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM191436 KDM5C c.3497G>A p.R1166H Substitution - Missense Central_nervous_system COSM218961 NCOA2 c.1793G>T p.G598V Substitution - Missense Pancreas COSM218731 SMYD5 c.619G>C p.E207Q Substitution - Missense Pancreas COSM211733 TET2 c.4225A>T p.K1409* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM219139 TET2 c.4082G>T p.G1361V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM219710 RSF1 c.3925_3927delGAG p.E1309delE Deletion - In frame Breast COSM249177 CHD1 c.2404G>A p.E802K Substitution - Missense Kidney COSM254544 ARID1A c.5221C>T p.Q1741* Substitution - Nonsense Urinary_tract COSM254943 SP110 c.806C>G p.S269C Substitution - Missense Urinary_tract COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Upper_aerodigestive_tract COSM318348 EP300 c.4186T>C p.S1396P Substitution - Missense Lung COSM339673 GATAD2A c.83A>G p.Q28R Substitution - Missense Lung COSM351202 PRDM9 c.582C>A p.V194V Substitution - coding silent Lung COSM394059 TAF3 c.2676G>T p.W892C Substitution - Missense Lung COSM403402 EYA2 c.144G>T p.Q48H Substitution - Missense Lung COSM427772 SIRT1 c.1852G>A p.G618R Substitution - Missense Breast COSM431868 APOBEC1 c.212C>T p.T71M Substitution - Missense Breast COSM443225 INO80B c.876G>C p.P292P Substitution - coding silent Breast COSM441202 MBD5 c.1173G>C p.M391I Substitution - Missense Breast COSM452724 KMT2C c.2930G>A p.C977Y Substitution - Missense Breast COSM464444 RBBP4 c.1128G>T p.K376N Substitution - Missense Kidney COSM478996 EP300 c.498C>A p.N166K Substitution - Missense Kidney COSM480294 BAP1 c.67+1G>A p.? Unknown Eye COSM942788 ING4 c.251A>G p.Q84R Substitution - Missense Endometrium COSM1049012 SETD5_ENST00000402198 c.4220C>T p.A1407V Substitution - Missense Thyroid COSM940034 KMT2D c.8119A>T p.N2707Y Substitution - Missense Endometrium COSM1028982 DIDO1 c.2969A>G p.H990R Substitution - Missense Endometrium COSM919483 JMJD1C c.3703G>A p.A1235T Substitution - Missense Endometrium COSM738839 PRDM13 c.1830C>G p.F610L Substitution - Missense Lung COSM931013 KDM2A c.611T>C p.V204A Substitution - Missense Endometrium COSM1060900 PHF15 c.1815_1817delACC p.P611delP Deletion - In frame Prostate COSM1233148 ZBTB4 c.1921G>T p.E641* Substitution - Nonsense Large_intestine COSM1230821 TTF2 c.2198G>A p.R733Q Substitution - Missense Large_intestine COSM1583067 DNMT3A c.1506_1506delT p.T503fs*148 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1258616 MYST1 c.1049A>C p.E350A Substitution - Missense Stomach COSM1211798 KDM6A c.3052A>T p.K1018* Substitution - Nonsense Large_intestine COSM1220358 PHF2 c.1559C>T p.T520M Substitution - Missense Large_intestine COSM1223278 RBBP5 c.598G>A p.A200T Substitution - Missense Large_intestine COSM1178177 CAMKMT c.562C>A p.Q188K Substitution - Missense Prostate COSM1388495 ASXL3 c.180C>A p.F60L Substitution - Missense Large_intestine COSM1341909 PHC2 c.771C>T p.G257G Substitution - coding silent Large_intestine COSM1357561 TRIM66 c.3580C>T p.R1194* Substitution - Nonsense Large_intestine COSM1360176 EP400 c.4880delC p.Q1630fs*11 Deletion - Frameshift Large_intestine COSM1586680 CHD4 c.325G>A p.D109N Substitution - Missense Endometrium COSM1633398 TET2 c.383_384insCC p.Q129fs*17 Insertion - Frameshift Liver COSM1717368 SETBP1 c.2601C>A p.S867R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1756309 TDRD7 c.2169C>A p.I723I Substitution - coding silent Urinary_tract COSM42037 TET2 c.4210C>T p.R1404* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1738950 PRDM5 c.895G>A p.V299M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2029992 CHD8 c.5563C>T p.R1855C Substitution - Missense Large_intestine COSM2153751 KMT2C c.12901C>G p.P4301A Substitution - Missense Central_nervous_system COSM2133118 BMI1 c.683G>A p.R228Q Substitution - Missense Large_intestine COSM2098420 CHD4 c.3909T>A p.I1303I Substitution - coding silent Upper_aerodigestive_tract COSM2270405 RTF1 c.1005C>T p.F335F Substitution - coding silent Large_intestine COSM2828731 SETD5_ENST00000402198 c.267A>T p.V89V Substitution - coding silent Upper_aerodigestive_tract COSM2965405 KDM6A c.2502G>A p.E834E Substitution - coding silent Upper_aerodigestive_tract COSM3103062 DOT1L c.142A>T p.I48F Substitution - Missense Large_intestine COSM3360320 SETDB1 c.2101C>T p.P701S Substitution - Missense Kidney COSM3367529 PHF19 c.1495C>G p.P499A Substitution - Missense Kidney COSM3378513 MBD1 c.1237C>T p.R413* Substitution - Nonsense Stomach COSM3370462 FTO c.1344G>A p.L448L Substitution - coding silent Thyroid COSM3413974 EZH2 c.2000T>C p.M667T Substitution - Missense Large_intestine COSM3413591 TAF1L c.4999G>A p.D1667N Substitution - Missense Skin COSM3479346 TDRD5 c.2897C>T p.S966F Substitution - Missense Skin COSM3487581 ARID1A c.2732+2T>C p.? Unknown Skin COSM3486484 SMYD3 c.125C>T p.S42F Substitution - Missense Skin COSM3427750 PBRM1 c.1242G>T p.K414N Substitution - Missense Large_intestine COSM3422183 SETBP1 c.2019G>T p.K673N Substitution - Missense Large_intestine COSM3622173 JARID2 c.1197C>T p.S399S Substitution - coding silent Skin COSM3618953 CHD1 c.4312C>T p.L1438F Substitution - Missense Skin COSM3578892 SP140_ENST00000392045 c.762G>A p.M254I Substitution - Missense Skin COSM3547377 NCOA3 c.1968C>T p.P656P Substitution - coding silent Skin COSM3527180 L3MBTL4 c.162G>A p.W54* Substitution - Nonsense Skin COSM3689037 ASH1L c.7976G>A p.R2659H Substitution - Missense Large_intestine COSM3676395 HNF1A c.1377G>A p.L459L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3707718 NCOA6 c.4778C>T p.P1593L Substitution - Missense Liver COSM3715319 EYA4 c.1765A>G p.M589V Substitution - Missense Upper_aerodigestive_tract COSM3762469 EZH2 c.553G>C p.D185H Substitution - Missense Thyroid COSM3786782 BRWD3 c.3432C>T p.D1144D Substitution - coding silent Breast COSM3795297 NCOR1 c.6813C>T p.L2271L Substitution - coding silent Urinary_tract COSM3963079 INO80B c.1005T>G p.G335G Substitution - coding silent Lung COSM4021551 PRDM2 c.2917C>T p.P973S Substitution - Missense Stomach COSM4015935 KAT6B c.6210C>T p.Y2070Y Substitution - coding silent Stomach COSM4049847 CHD8 c.4405C>T p.R1469C Substitution - Missense Adrenal_gland COSM4054568 MGA c.5487A>T p.T1829T Substitution - coding silent Stomach COSM4092291 SP100 c.2274G>T p.E758D Substitution - Missense Stomach COSM4114059 ZBTB38 c.3008G>A p.R1003Q Substitution - Missense Stomach COSM4070311 CBX8 c.172G>C p.E58Q Substitution - Missense Stomach COSM4135358 SETD2 c.4609C>T p.R1537* Substitution - Nonsense Prostate COSM4340261 ZBTB38 c.2972A>C p.K991T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4388262 KDM2B c.2490G>A p.M830I Substitution - Missense Pancreas COSM4384163 MLL5 c.5084A>G p.H1695R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384334 KMT2C c.5065delG p.E1689fs*28 Deletion - Frameshift Breast COSM4398829 RUVBL1 c.885C>T p.V295V Substitution - coding silent Skin COSM4395953 TTF2 c.3475C>T p.L1159F Substitution - Missense Skin COSM4593385 ARID2 c.4663G>T p.A1555S Substitution - Missense Upper_aerodigestive_tract COSM4535395 STK31 c.2185G>C p.D729H Substitution - Missense Skin COSM4548079 EHMT1 c.345G>T p.S115S Substitution - coding silent Skin COSM4573489 PWWP2B c.1179C>G p.S393R Substitution - Missense Bone COSM4502402 CHD7 c.6123C>T p.S2041S Substitution - coding silent Skin COSM4770177 PBRM1 c.4576+5_4576+6insGAG p.? Unknown Soft_tissue COSM4720066 RAI1 c.2643C>T p.P881P Substitution - coding silent Large_intestine COSM4671974 CHD2 c.3332A>T p.D1111V Substitution - Missense Large_intestine COSM4694947 KDM3B c.5008G>A p.G1670S Substitution - Missense Large_intestine COSM4682125 EYA1 c.646C>G p.P216A Substitution - Missense Large_intestine COSM4649224 ASH2L c.1091C>T p.A364V Substitution - Missense Large_intestine COSM4766111 TET2 c.5621A>G p.E1874G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4611655 HDAC2 c.33delA p.V12fs*20 Deletion - Frameshift Large_intestine COSM4774834 KMT2C c.2942G>A p.G981D Substitution - Missense Breast COSM4789466 EPC2 c.1614T>A p.S538R Substitution - Missense Liver COSM4791582 ATXN7 c.2549G>A p.S850N Substitution - Missense Liver COSM4891346 ARID2 c.3818G>A p.R1273Q Substitution - Missense Upper_aerodigestive_tract COSM4842786 BAHCC1 c.1234G>A p.E412K Substitution - Missense Cervix COSM4852168 ATRX c.5413C>A p.H1805N Substitution - Missense Cervix COSM4826566 KMT2D c.9928C>T p.Q3310* Substitution - Nonsense Cervix COSM4960907 BPTF c.5389G>A p.A1797T Substitution - Missense Liver COSM4963480 DAXX c.979C>T p.R327* Substitution - Nonsense Pancreas COSM4990880 CREBBP c.6498C>T p.P2166P Substitution - coding silent Skin COSM5000376 KMT2D c.4258_4259insC p.R1420fs*39 Insertion - Frameshift Pancreas COSM4993587 ATRX c.748C>T p.R250* Substitution - Nonsense Skin COSM5012120 SFMBT2 c.527C>T p.P176L Substitution - Missense Kidney COSM5015279 RTF1 c.1340T>C p.I447T Substitution - Missense Kidney COSM5006787 CHD3 c.3089A>C p.N1030T Substitution - Missense Large_intestine COSM5062708 TRRAP c.11175G>A p.A3725A Substitution - coding silent Stomach COSM5121188 PYGO2 c.814C>T p.P272S Substitution - Missense Large_intestine COSM5181900 PYGO2 c.981G>A p.V327V Substitution - coding silent Large_intestine COSM5039897 ASXL1 c.206G>A p.G69E Substitution - Missense Liver COSM5374061 PRDM4 c.1513C>T p.P505S Substitution - Missense Skin COSM5414571 PRMT8 c.100C>T p.P34S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5459039 PHC3 c.2617C>T p.R873C Substitution - Missense Large_intestine COSM5574753 MGA c.6132_6136delGTCAG p.S2045fs*7 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5641321 BRD4 c.1994G>A p.R665H Substitution - Missense Oesophagus COSM5757016 KMT2C c.12906_12907insT p.A4303fs*12 Insertion - Frameshift Large_intestine COSM5603178 CHD9 c.4834C>A p.Q1612K Substitution - Missense Skin COSM5599299 CHD9 c.5461G>A p.E1821K Substitution - Missense Skin COSM5589242 TTF2 c.2377C>T p.L793L Substitution - coding silent Skin COSM5673424 MTF2 c.1501G>T p.G501C Substitution - Missense Soft_tissue COSM5708776 SETD2 c.463G>T p.V155L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5706735 SETBP1 c.2132A>C p.K711T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5574225 SETD6 c.791_792insA p.M264fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5767302 SETD5_ENST00000402198 c.4167C>T p.I1389I Substitution - coding silent Breast COSM5817881 KDM5D c.2009T>A p.L670Q Substitution - Missense Liver COSM5945061 TET2 c.4400G>A p.R1467K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5939346 CHD1 c.4210G>T p.E1404* Substitution - Nonsense Skin COSM5900650 BRWD3 c.3841C>T p.P1281S Substitution - Missense Skin COSM5895532 SMYD2 c.305C>T p.P102L Substitution - Missense Skin COSM5886111 TRIM33 c.1040+1G>A p.? Unknown Skin COSM5958190 MINA c.885C>T p.L295L Substitution - coding silent Thyroid COSM6006340 ASXL1 c.1645C>T p.R549C Substitution - Missense Skin COSM5985020 SRCAP c.6235C>T p.L2079F Substitution - Missense Upper_aerodigestive_tract COSM5998224 SMARCA2 c.1046+6G>A p.? Unknown Prostate COSM5985274 KMT2C c.2702T>C p.L901P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6002140 CHD9 c.5382T>C p.R1794R Substitution - coding silent Prostate COSM5976042 TDRD6 c.2703G>A p.K901K Substitution - coding silent Upper_aerodigestive_tract COSM6013747 SFMBT2 c.2326G>A p.E776K Substitution - Missense Skin COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM5945796 BAP1 c.? p.Y129* Substitution - Nonsense Pleura COSM52928 PBRM1 c.645_646ins409 p.Q216fs*7 Insertion - Frameshift Breast COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM914357 ASXL1 c.? p.E773* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3738477 TET2 c.? p.E1178fs*48 Frameshift Haematopoietic_and_lymphoid_tissue COSM52815 PBRM1 c.2915delA p.N972fs*42 Deletion - Frameshift Kidney COSM1318036 EP400 c.1791G>A p.Q597Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3650674 PRDM14 c.666G>A p.A222A Substitution - coding silent Skin COSM913238 BRDT c.1448A>C p.K483T Substitution - Missense Endometrium COSM122851 EP300 c.4195G>A p.D1399N Substitution - Missense Oesophagus COSM5575878 TRRAP c.10447G>A p.A3483T Substitution - Missense Stomach COSM5048982 PRDM2 c.3875A>G p.N1292S Substitution - Missense Oesophagus COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM414472 PRDM16 c.1249G>A p.A417T Substitution - Missense Urinary_tract COSM3403366 BAHCC1 c.2757C>T p.L919L Substitution - coding silent Central_nervous_system COSM5452728 SETBP1 c.507T>C p.L169L Substitution - coding silent Large_intestine COSM243247 BRWD1 c.1852C>T p.H618Y Substitution - Missense Prostate COSM4147408 CHD4 c.1006A>C p.T336P Substitution - Missense Upper_aerodigestive_tract COSM3937064 CREBBP c.1873C>T p.R625C Substitution - Missense Oesophagus COSM5759039 CXXC1 c.736C>T p.Q246* Substitution - Nonsense Bone COSM4993585 ATRX c.1051G>A p.E351K Substitution - Missense Skin COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Upper_aerodigestive_tract COSM4771539 NCOA3 c.3762_3763insCAGCAG p.Q1276_T1277insQQ Insertion - In frame Haematopoietic_and_lymphoid_tissue COSM5665701 APOBEC1 c.157A>G p.S53G Substitution - Missense Soft_tissue COSM5151012 ZMYND8 c.1664C>T p.S555L Substitution - Missense Skin COSM4702444 KMT2D c.2331C>T p.S777S Substitution - coding silent Large_intestine COSM127401 ATRX c.5538C>G p.L1846L Substitution - coding silent Upper_aerodigestive_tract COSM52779 PBRM1 c.2335C>T p.Q779* Substitution - Nonsense Kidney COSM753802 SMARCA2 c.584G>T p.G195V Substitution - Missense Lung COSM1674452 TAF1L c.1597C>T p.P533S Substitution - Missense Skin COSM3594673 SETD2 c.3109T>C p.S1037P Substitution - Missense Skin COSM3816136 TP53BP1 c.2811T>C p.S937S Substitution - coding silent Breast COSM3733523 NCOR1 c.14G>T p.G5V Substitution - Missense Upper_aerodigestive_tract COSM5347019 ARID1A c.2123A>C p.Q708P Substitution - Missense Endometrium COSM3850373 BRD8 c.1439T>C p.V480A Substitution - Missense Stomach COSM1109447 KIAA2026_ENST00000399933 c.3841C>A p.L1281I Substitution - Missense Endometrium COSM1057 SMARCB1 c.1148delC p.P383fs*>3 Deletion - Frameshift Central_nervous_system COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52953 DNMT3A c.? p.R736H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM221606 TET2 c.2362G>A p.E788K Substitution - Missense Skin COSM52792 PBRM1 c.1303delA p.T435fs*3 Deletion - Frameshift Kidney COSM4577201 PRDM16 c.270C>A p.S90S Substitution - coding silent Bone COSM5982221 KDM6A c.2232C>T p.V744V Substitution - coding silent Upper_aerodigestive_tract COSM162524 MLL5 c.2375G>A p.R792K Substitution - Missense Breast COSM3388442 SETBP1 c.3748G>C p.D1250H Substitution - Missense Pancreas COSM932207 RSF1 c.479G>A p.G160D Substitution - Missense Endometrium COSM5702535 BAP1 c.375G>C p.E125D Substitution - Missense Eye COSM350272 AIRE c.608G>A p.R203Q Substitution - Missense Skin COSM4167278 TET2 c.? p.L1621fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM3793569 CHD8 c.1038G>A p.Q346Q Substitution - coding silent Urinary_tract COSM1107168 EHMT1 c.531G>A p.P177P Substitution - coding silent Endometrium COSM5936281 CHD3 c.1615C>T p.P539S Substitution - Missense Skin COSM316483 VPS72 c.453G>A p.R151R Substitution - coding silent Lung COSM1424465 BAP1 c.619C>T p.R207W Substitution - Missense Large_intestine COSM2007148 KMT2D c.4982C>A p.P1661H Substitution - Missense Large_intestine COSM1560994 RNF134 c.83_84insGCCTCC p.P28_V29insPP Insertion - In frame Large_intestine COSM150428 KMT2C c.2958A>G p.P986P Substitution - coding silent Soft_tissue COSM5615054 DNMT3A c.1231delC p.L411fs*240 Deletion - Frameshift Lung COSM2177186 TRIM33 c.2554T>A p.S852T Substitution - Missense Large_intestine COSM3750192 PHF2 c.2964G>T p.P988P Substitution - coding silent Large_intestine COSM108375 SMARCB1 c.548C>T p.P183L Substitution - Missense Skin COSM4935362 MGA c.4031G>A p.W1344* Substitution - Nonsense Liver COSM4059667 GTF3C1 c.11T>C p.L4P Substitution - Missense Stomach COSM4614011 TET2 c.495delT p.S167fs*16 Deletion - Frameshift Large_intestine COSM253303 ARID1A c.4243_4244insCAGC p.Q1415fs*31 Insertion - Frameshift Ovary COSM98217 SIRT5 c.827C>T p.T276M Substitution - Missense Upper_aerodigestive_tract COSM5941311 TAF1L c.5375G>A p.S1792N Substitution - Missense Skin COSM4767632 SETD2 c.3816G>A p.G1272G Substitution - coding silent Biliary_tract COSM51450 ARID1A c.6139G>T p.E2047* Substitution - Nonsense Endometrium COSM4232590 LBR c.902C>T p.A301V Substitution - Missense Upper_aerodigestive_tract COSM4717503 PRDM2 c.4394C>A p.T1465N Substitution - Missense Large_intestine COSM4881404 SRCAP c.2918T>A p.V973E Substitution - Missense Upper_aerodigestive_tract COSM4085352 MBD5 c.3865C>T p.H1289Y Substitution - Missense Stomach COSM97035 ASXL1 c.2278C>T p.Q760* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM383229 GATAD2A c.83A>T p.Q28L Substitution - Missense Lung COSM3764493 BAZ1A c.521G>C p.C174S Substitution - Missense Central_nervous_system COSM4775910 PHF6 c.91_101del11 p.L31fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5450180 L3MBTL3 c.855C>T p.T285T Substitution - coding silent Large_intestine COSM1642353 MINA c.857T>C p.L286S Substitution - Missense Stomach COSM5574752 MGA c.6425delC p.S2143fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4445253 DAXX c.? p.? Unknown Soft_tissue COSM1204295 DNMT1 c.2975G>A p.R992Q Substitution - Missense Large_intestine COSM1019147 NCOA1 c.2092A>C p.S698R Substitution - Missense Endometrium COSM1495692 INTS12 c.1309T>G p.S437A Substitution - Missense Kidney COSM444191 DIDO1 c.697G>A p.D233N Substitution - Missense Breast COSM447109 MINA c.1153G>A p.A385T Substitution - Missense Prostate COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4678881 DNMT1 c.2932G>A p.D978N Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5382846 SMEK1 c.632T>C p.M211T Substitution - Missense Skin COSM985847 BAHCC1 c.1532C>T p.P511L Substitution - Missense Pleura COSM1644109 UTY c.3786A>G p.K1262K Substitution - coding silent Stomach COSM5426506 ASH1L c.6882C>G p.N2294K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4429487 NSD1 c.5237A>G p.N1746S Substitution - Missense Oesophagus COSM4456167 MGA c.3920_3921AG>GA p.K1307R Substitution - Missense Skin COSM902726 RBBP5 c.314G>A p.R105Q Substitution - Missense Endometrium COSM221311 TDRD5 c.622C>A p.P208T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5806677 BAG6 c.355G>T p.G119W Substitution - Missense Liver COSM4394565 TAF3 c.2359C>T p.P787S Substitution - Missense Skin COSM5554534 PHF3 c.3738T>G p.G1246G Substitution - coding silent Prostate COSM1180697 PYGO2 c.448delC p.Q150fs*11 Deletion - Frameshift Large_intestine COSM5599096 ASH1L c.8072G>A p.R2691Q Substitution - Missense Skin COSM4119380 ACTR8 c.269G>A p.S90N Substitution - Missense Stomach COSM133721 DNMT3A c.958C>T p.R320* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1315749 BAZ1B c.3236A>G p.E1079G Substitution - Missense Lung COSM1469605 BRWD3 c.921C>T p.R307R Substitution - coding silent Large_intestine COSM3798027 EPC2 c.1571G>A p.R524Q Substitution - Missense Urinary_tract COSM34192 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM5025634 SMEK2 c.352G>A p.E118K Substitution - Missense Breast COSM4003461 NSD1 c.6829T>C p.L2277L Substitution - coding silent Soft_tissue COSM5773820 ADNP c.2464G>A p.V822M Substitution - Missense Breast COSM5702387 DOT1L c.2700_2701CC>TT p.P901S Substitution - Missense Soft_tissue COSM1550016 ACTB c.1000G>A p.E334K Substitution - Missense Upper_aerodigestive_tract COSM4043538 SMARCC2 c.1052A>G p.N351S Substitution - Missense Stomach COSM3704973 POGZ c.283+8G>A p.? Unknown Liver COSM468037 EP400 c.8226A>G p.Q2742Q Substitution - coding silent Pancreas COSM1132269 ZMYM3 c.778+1G>T p.? Unknown Prostate COSM3438392 ERCC6 c.789C>T p.I263I Substitution - coding silent Skin COSM4842170 TDRD6 c.5052G>A p.L1684L Substitution - coding silent Cervix COSM5943359 SP100 c.1720+3delA p.? Unknown Skin COSM1412438 ADNP c.1976delA p.K659fs*17 Deletion - Frameshift Large_intestine COSM1254583 IDH1 c.305T>C p.I102T Substitution - Missense Stomach COSM182860 CHD8 c.6499G>A p.V2167I Substitution - Missense Large_intestine COSM5456276 SETD1B c.1676T>A p.V559D Substitution - Missense Large_intestine COSM923570 KMT2A c.1182G>A p.L394L Substitution - coding silent Endometrium COSM1756982 SMARCA4 c.1948G>C p.E650Q Substitution - Missense Urinary_tract COSM233660 TRRAP c.9916G>A p.E3306K Substitution - Missense Skin COSM1025775 DNMT3B c.151T>C p.S51P Substitution - Missense Endometrium COSM4144074 ORC1 c.2402A>G p.Q801R Substitution - Missense Thyroid COSM4591901 NCOR1 c.618+6T>A p.? Unknown Upper_aerodigestive_tract COSM3075998 BRPF3 c.3217G>T p.D1073Y Substitution - Missense Large_intestine COSM1257768 KMT2A c.2039C>T p.S680L Substitution - Missense Large_intestine COSM1461447 EHMT1 c.3450C>T p.D1150D Substitution - coding silent Large_intestine COSM5719630 SMYD1 c.1333G>A p.E445K Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5911590 BAZ2B c.4530C>A p.S1510R Substitution - Missense Skin COSM3973916 ATRX c.4808A>G p.Q1603R Substitution - Missense Central_nervous_system COSM464025 LBR c.1131A>T p.R377R Substitution - coding silent Kidney COSM3393840 SHPRH c.4520C>T p.P1507L Substitution - Missense Pancreas COSM3998921 CHD4 c.4626A>C p.T1542T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM6011034 SFMBT1 c.1191C>T p.L397L Substitution - coding silent Skin COSM470600 INOC1 c.1991G>A p.R664H Substitution - Missense Kidney COSM87189 TET2 c.5681C>A p.P1894H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5015852 ARID1A c.2082delC p.P695fs*47 Deletion - Frameshift Kidney COSM1172148 KDM4A c.1684A>T p.R562W Substitution - Missense Oesophagus COSM312954 MSH6 c.2678T>A p.L893Q Substitution - Missense Lung COSM1610929 CHD3 c.1707+10C>G p.? Unknown Liver COSM3736469 MYST3 c.401T>C p.L134S Substitution - Missense Soft_tissue COSM144172 EZH2 c.397T>C p.Y133H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4726198 SIRT3 c.513C>T p.Y171Y Substitution - coding silent Large_intestine COSM4584591 ATXN7 c.86_87insGCAGCA p.Q39_P40insQQ Insertion - In frame Bone COSM85802 DAXX c.1980_1980delG p.K662fs*33 Deletion - Frameshift Pancreas COSM1047220 SFMBT1 c.1595G>T p.G532V Substitution - Missense Endometrium COSM4537085 PRDM16 c.237G>C p.P79P Substitution - coding silent Skin COSM241372 RBBP4 c.118C>G p.L40V Substitution - Missense Prostate COSM4588681 EHMT1 c.345G>A p.S115S Substitution - coding silent Large_intestine COSM5361588 TDG c.1070G>A p.G357D Substitution - Missense Large_intestine COSM1606899 ZMYM2 c.1138A>G p.I380V Substitution - Missense Liver COSM5967512 MSH6 c.? p.E980K Substitution - Missense Large_intestine COSM3388267 CBX4 c.1439C>T p.T480M Substitution - Missense Pancreas COSM5993981 HDAC4 c.1704A>G p.E568E Substitution - coding silent Prostate COSM4614308 RAI1 c.3097delC p.Q1035fs*29 Deletion - Frameshift Stomach COSM1678808 CREBBP c.3449C>A p.P1150H Substitution - Missense Large_intestine COSM3706538 BAHD1 c.1219G>A p.V407M Substitution - Missense Liver COSM1250492 DNMT1 c.3617C>T p.S1206F Substitution - Missense Stomach COSM5807942 KMT2C c.1611G>T p.E537D Substitution - Missense Liver COSM2150899 KIAA1045 c.532delC p.H178fs*41 Deletion - Frameshift Central_nervous_system COSM1196590 NCOA6 c.5515C>T p.L1839F Substitution - Missense Lung COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4137484 EP300 c.2092G>C p.V698L Substitution - Missense Ovary COSM164777 TAF1L c.3754C>T p.R1252W Substitution - Missense Breast COSM1424474 PHF7 c.168C>T p.S56S Substitution - coding silent Large_intestine COSM1961381 LBR c.1085-10C>T p.? Unknown Oesophagus COSM4768978 PRDM8 c.1820C>G p.S607W Substitution - Missense Biliary_tract COSM1979080 ALKBH3 c.276G>T p.L92F Substitution - Missense Large_intestine COSM5596289 ARID1A c.4852C>T p.P1618S Substitution - Missense Skin COSM1727269 NCOA6 c.4354G>T p.V1452F Substitution - Missense Liver COSM4788722 MECOM c.210G>C p.E70D Substitution - Missense Liver COSM980847 MYST2 c.812G>T p.R271I Substitution - Missense Endometrium COSM52947 IDH2 c.? p.R172? Substitution - Missense Central_nervous_system COSM149088 SP110 c.619G>A p.E207K Substitution - Missense Soft_tissue COSM945415 ING1 c.705G>A p.W235* Substitution - Nonsense Endometrium COSM452276 SND1 c.118C>T p.R40C Substitution - Missense Breast COSM4961032 EYA1 c.701C>T p.P234L Substitution - Missense Liver COSM4169422 ASXL1 c.? p.P1334L Substitution - Missense Skin COSM108983 SMARCA4 c.4113C>T p.S1371S Substitution - coding silent Skin COSM1230617 TRRAP c.7351C>T p.R2451C Substitution - Missense Large_intestine COSM231430 ASXL1 c.2179G>A p.E727K Substitution - Missense Skin COSM750333 MYST3 c.883C>G p.P295A Substitution - Missense Lung COSM3501046 RTF1 c.1434C>T p.I478I Substitution - coding silent Skin COSM140415 MSH6 c.1024G>T p.A342S Substitution - Missense Skin COSM5720356 CHD1 c.3610A>T p.I1204L Substitution - Missense Skin COSM3424182 CBX7 c.428G>A p.R143Q Substitution - Missense Large_intestine COSM1135175 RAG2 c.774C>T p.V258V Substitution - coding silent Kidney COSM1446050 PHIP c.3929G>A p.R1310H Substitution - Missense Liver COSM5938889 KDM3A c.2762C>T p.S921F Substitution - Missense Skin COSM5721981 BAZ2A c.803C>T p.T268I Substitution - Missense Skin COSM1636612 ATRX c.2346_2347delAA p.S783fs*8 Deletion - Frameshift Liver COSM28776 KDM6A c.1793_1794delTA p.I598fs*6 Deletion - Frameshift Endometrium COSM5906583 ACTR5 c.906G>T p.L302F Substitution - Missense Skin COSM4565225 TRIM33 c.1885_1886CC>TT p.P629F Substitution - Missense Skin COSM945764 MPHOSPH8 c.774C>T p.V258V Substitution - coding silent Endometrium COSM4695050 KDM6B c.549+2T>C p.? Unknown Large_intestine COSM4100225 DIDO1 c.246G>A p.R82R Substitution - coding silent Stomach COSM1161850 WHSC1 c.581G>T p.S194I Substitution - Missense Kidney COSM210952 CHD7 c.7526T>C p.M2509T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1684825 PRDM1 c.721G>T p.E241* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3618970 PRDM13 c.393G>T p.E131D Substitution - Missense Skin COSM3966962 PWWP2B c.470G>A p.R157H Substitution - Missense Central_nervous_system COSM3720216 PHIP c.3677G>A p.W1226* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM42036 TET2 c.3571C>T p.Q1191* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3387344 JMJD5 c.1083C>T p.S361S Substitution - coding silent Pancreas COSM5170796 BAHCC1 c.7458C>T p.V2486V Substitution - coding silent Large_intestine COSM371028 PRDM4 c.1033G>A p.V345I Substitution - Missense Lung COSM4911848 SMARCC2 c.2302G>A p.E768K Substitution - Missense Liver COSM940014 KMT2D c.10309C>T p.R3437* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1313459 TRRAP c.2866G>A p.E956K Substitution - Missense Urinary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5015370 SETD1A c.680A>G p.Y227C Substitution - Missense Kidney COSM5594752 KDM4D c.534C>T p.P178P Substitution - coding silent Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3666979 KDM2A c.686A>C p.K229T Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4736773 TRRAP c.3162C>T p.V1054V Substitution - coding silent Large_intestine COSM4590472 SIRT7 c.670A>C p.T224P Substitution - Missense Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4388600 KMT2C c.162-6C>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4772566 EZH1 c.1328G>A p.R443Q Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM342961 NCOA3 c.1813G>T p.G605W Substitution - Missense Lung COSM1468062 KDM6A c.2242C>T p.P748S Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM228110 KMT2C c.1042G>A p.D348N Substitution - Missense Soft_tissue COSM3392513 SFMBT1 c.1316C>A p.P439H Substitution - Missense Pancreas COSM86969 IKZF1 c.? p.S402fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5487033 ING1 c.751T>A p.W251R Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4878978 ARID1A c.4652G>A p.R1551H Substitution - Missense Endometrium COSM217332 KDM3B c.5025G>T p.Q1675H Substitution - Missense Liver COSM1672248 JARID2 c.114G>T p.K38N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM983874 PHF23 c.682C>T p.R228W Substitution - Missense Prostate COSM2837354 PCGF2 c.301T>C p.Y101H Substitution - Missense Large_intestine COSM3523589 BAHCC1 c.3266C>T p.T1089I Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM466566 PRDM10 c.465G>A p.T155T Substitution - coding silent Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3827749 NSD1 c.2968G>T p.E990* Substitution - Nonsense Breast COSM1716415 CTCF c.610delA p.T204fs*18 Deletion - Frameshift Endometrium COSM4817865 KDM4B c.1255G>A p.E419K Substitution - Missense Skin COSM5408352 TRRAP c.2165_2166CC>TT p.S722F Substitution - Missense Skin COSM3398890 SMARCC2 c.2593G>A p.A865T Substitution - Missense Central_nervous_system COSM69732 ASH1L c.3680T>C p.F1227S Substitution - Missense Ovary COSM1220331 PHF10 c.575A>G p.N192S Substitution - Missense Large_intestine COSM3606400 PRDM8 c.834C>T p.S278S Substitution - coding silent Skin COSM1704628 KMT2A c.4060C>T p.P1354S Substitution - Missense Skin COSM1237920 RING1 c.293G>A p.R98Q Substitution - Missense Thyroid COSM1566439 EP300 c.6964delC p.H2324fs*29 Deletion - Frameshift Large_intestine COSM4889506 BPTF c.660A>G p.E220E Substitution - coding silent Upper_aerodigestive_tract COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Bone COSM1586696 CHD4 c.3803C>T p.T1268I Substitution - Missense Endometrium COSM51224 ARID1A c.5202T>A p.Y1734* Substitution - Nonsense Kidney COSM488576 TAF1 c.2606G>A p.R869H Substitution - Missense Kidney COSM450155 BRD9 c.1176G>A p.E392E Substitution - coding silent Breast COSM1122190 HDAC6 c.1682G>A p.R561H Substitution - Missense Endometrium COSM5518836 MYST3 c.4629G>A p.Q1543Q Substitution - coding silent Biliary_tract COSM5965726 TRIM33 c.3235G>A p.E1079K Substitution - Missense Breast COSM3744615 TP53BP1 c.1059C>G p.D353E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2762695 ADNP c.2235G>C p.K745N Substitution - Missense Large_intestine COSM2965370 KDM6A c.2040C>T p.N680N Substitution - coding silent Upper_aerodigestive_tract COSM250047 ATRX c.3904_3905insA p.R1302fs*7 Insertion - Frameshift Central_nervous_system COSM4442007 GTF3C1 c.5293C>T p.R1765W Substitution - Missense Large_intestine COSM228063 PRDM9 c.1337G>A p.S446N Substitution - Missense Skin COSM3255717 PHF14 c.145G>C p.A49P Substitution - Missense Upper_aerodigestive_tract COSM1159415 KMT2C c.8246T>G p.L2749* Substitution - Nonsense Pancreas COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Liver COSM144568 PHF6 c.823G>A p.G275R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM292366 ARID4A c.3214C>T p.Q1072* Substitution - Nonsense Large_intestine COSM1372823 MGA c.4139G>A p.R1380Q Substitution - Missense Large_intestine COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM1002 SMARCB1 c.118C>T p.R40* Substitution - Nonsense Central_nervous_system COSM43499 TET2 c.5693C>T p.S1898F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM46414 TET2 c.1903C>T p.Q635* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM76391 SETDB1 c.1511C>G p.S504C Substitution - Missense Ovary COSM69741 ATAD2 c.3040G>C p.D1014H Substitution - Missense Ovary COSM88772 CREBBP c.5831delC p.P1946fs*30 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM137456 BRPF3 c.2717G>A p.R906K Substitution - Missense Skin COSM139574 NIPBL c.1555G>A p.G519R Substitution - Missense Skin COSM216306 ZMYM1 c.1969G>T p.E657* Substitution - Nonsense Pancreas COSM234248 HDAC3 c.793C>T p.R265* Substitution - Nonsense Skin COSM249393 NCOA2 c.4282G>T p.G1428C Substitution - Missense Kidney COSM252830 SMARCA2 c.3484C>T p.R1162C Substitution - Missense Ovary COSM266645 GTF3C1 c.3129C>T p.C1043C Substitution - coding silent Large_intestine COSM255288 KDM6A c.3681G>A p.W1227* Substitution - Nonsense Central_nervous_system COSM263602 SETD1A c.3328G>A p.E1110K Substitution - Missense Large_intestine COSM288431 DNMT1 c.4097C>T p.T1366M Substitution - Missense Prostate COSM308475 PBRM1 c.753_756delTATA p.D251fs*31 Deletion - Frameshift Kidney COSM318308 ZMYM1 c.3336G>T p.M1112I Substitution - Missense Soft_tissue COSM325601 KDM6A c.3809T>C p.M1270T Substitution - Missense Lung COSM371806 ASXL3 c.930A>T p.S310S Substitution - coding silent Lung COSM382737 HCFC1 c.1353C>T p.A451A Substitution - coding silent Large_intestine COSM392049 SMARCA1 c.175-1delG p.? Unknown Lung COSM458500 PHRF1 c.1893C>T p.F631F Substitution - coding silent Cervix COSM459274 SETDB2 c.52G>A p.D18N Substitution - Missense Cervix COSM454723 CHD7 c.1977C>A p.P659P Substitution - coding silent Breast COSM486803 TDRD7 c.2021A>G p.K674R Substitution - Missense Kidney COSM693859 KDM5A c.402C>A p.T134T Substitution - coding silent Lung COSM679185 ACTA1 c.90G>T p.R30S Substitution - Missense Lung COSM954002 MTA1 c.1252G>A p.A418T Substitution - Missense Endometrium COSM941752 BAZ2A c.3233G>A p.R1078H Substitution - Missense Oesophagus COSM937167 EP400 c.5578G>A p.D1860N Substitution - Missense Endometrium COSM1028979 DIDO1 c.3541+6C>T p.? Unknown Endometrium COSM745615 HDAC9 c.1448A>C p.Q483P Substitution - Missense Lung COSM920204 SFMBT2 c.278T>C p.V93A Substitution - Missense Endometrium COSM708768 CHD3 c.1602A>T p.P534P Substitution - coding silent Lung COSM703225 SETD1A c.4838G>A p.R1613H Substitution - Missense Lung COSM913248 BRDT c.2765G>A p.R922K Substitution - Missense Endometrium COSM906831 SMYD3 c.1037G>T p.G346V Substitution - Missense Endometrium COSM945765 MPHOSPH8 c.973G>A p.D325N Substitution - Missense Endometrium COSM1602273 ZMYM4 c.2171A>T p.N724I Substitution - Missense Liver COSM971516 FTO c.1476C>T p.I492I Substitution - coding silent Large_intestine COSM1128336 YY1 c.759A>G p.E253E Substitution - coding silent Prostate COSM1123275 PHF8 c.1029G>T p.Q343H Substitution - Missense Endometrium COSM1205910 EZH2 c.1283A>C p.N428T Substitution - Missense Large_intestine COSM1178954 PHF3 c.1060A>G p.N354D Substitution - Missense Prostate COSM1216855 NCOA2 c.1346A>C p.H449P Substitution - Missense Large_intestine COSM1227191 SP110 c.1536G>T p.K512N Substitution - Missense Large_intestine COSM1214646 MBD5 c.1649C>A p.S550Y Substitution - Missense Large_intestine COSM1193019 ACTL6A c.487delG p.G163fs*6 Deletion - Frameshift Lung COSM1319427 SMC1A c.1757G>A p.R586Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1317088 SP140_ENST00000392045 c.1431G>C p.A477A Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1270302 VPS72 c.1073G>A p.R358H Substitution - Missense Oesophagus COSM1381135 NCOR1 c.2271G>A p.T757T Substitution - coding silent Large_intestine COSM1453156 TRRAP c.2976C>T p.N992N Substitution - coding silent Large_intestine COSM1458071 NCOA2 c.1607C>T p.A536V Substitution - Missense Large_intestine COSM1460298 SET c.190C>T p.R64C Substitution - Missense Large_intestine COSM1363141 BAZ2A c.2421delA p.V808fs*9 Deletion - Frameshift Large_intestine COSM1344516 RERE c.3582G>A p.R1194R Substitution - coding silent Large_intestine COSM1363776 CHD4 c.417G>T p.E139D Substitution - Missense Soft_tissue COSM1361700 ARID2 c.3438G>A p.S1146S Substitution - coding silent Large_intestine COSM1339247 LBR c.1114C>T p.R372C Substitution - Missense Stomach COSM1341430 ARID1A c.6415delC p.F2141fs*59 Deletion - Frameshift Stomach COSM1563161 GTF3C1 c.2048G>A p.G683D Substitution - Missense Liver COSM1471323 ATF2 c.23A>T p.N8I Substitution - Missense Prostate COSM1610772 ZBTB4 c.219C>T p.G73G Substitution - coding silent Liver COSM1617698 DHX30 c.2993G>A p.C998Y Substitution - Missense Liver COSM1673695 KMT2C c.13162A>C p.T4388P Substitution - Missense Kidney COSM1680347 SETBP1 c.3586G>T p.E1196* Substitution - Nonsense Large_intestine COSM1670143 SMARCC1 c.1696C>A p.L566I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1668759 DNMT3A c.2283G>A p.M761I Substitution - Missense Large_intestine COSM1714507 BRD1 c.440C>T p.A147V Substitution - Missense Skin COSM1735252 TAF1 c.4701C>A p.S1567R Substitution - Missense Pancreas COSM2812149 SETBP1 c.4427A>G p.E1476G Substitution - Missense Large_intestine COSM2823023 KDM3A c.395G>A p.R132H Substitution - Missense Large_intestine COSM3026265 STK31 c.40G>T p.E14* Substitution - Nonsense Stomach COSM3206352 FXR1 c.1561A>C p.M521L Substitution - Missense Upper_aerodigestive_tract COSM3296124 MBD5 c.1248C>T p.H416H Substitution - coding silent Upper_aerodigestive_tract COSM3389394 SUV420H2 c.634G>A p.E212K Substitution - Missense Pancreas COSM3508238 GTF3C1 c.295C>T p.P99S Substitution - Missense Skin COSM3424965 ATRX c.1331G>A p.R444Q Substitution - Missense Skin COSM3618487 BRD9 c.1053C>T p.I351I Substitution - coding silent Skin COSM3633859 TIF1 c.2183C>T p.S728F Substitution - Missense Skin COSM3548786 DIDO1 c.4148G>A p.R1383K Substitution - Missense Skin COSM3522217 ZBTB4 c.2432C>T p.P811L Substitution - Missense Skin COSM3525855 SETBP1 c.1795G>A p.E599K Substitution - Missense Skin COSM3662944 TRIM24 c.2581C>G p.P861A Substitution - Missense Liver COSM3648808 ASH2L c.1413C>T p.S471S Substitution - coding silent Skin COSM3710912 KMT2D c.6745G>T p.V2249F Substitution - Missense Upper_aerodigestive_tract COSM3713231 NCOA6 c.6054C>T p.S2018S Substitution - coding silent Upper_aerodigestive_tract COSM3746340 YY1 c.225T>C p.H75H Substitution - coding silent Liver COSM3794149 MGA c.7243C>T p.H2415Y Substitution - Missense Urinary_tract COSM3804386 KDM1A c.812G>A p.R271Q Substitution - Missense Breast COSM3855708 C5orf35 c.519G>A p.P173P Substitution - coding silent Stomach COSM3832358 KMT2C c.5502A>C p.P1834P Substitution - coding silent Breast COSM3828663 PRDM13 c.1767G>T p.K589N Substitution - Missense Breast COSM3923200 KMT2C c.4489G>A p.D1497N Substitution - Missense Skin COSM3876900 MLL5 c.497+2T>C p.? Unknown Stomach COSM3974725 PHF17 c.1867G>A p.G623R Substitution - Missense Central_nervous_system COSM3954844 KMT2D c.2359A>T p.K787* Substitution - Nonsense Lung COSM4014457 ERCC6 c.1367G>A p.G456E Substitution - Missense Stomach COSM4028654 LBR c.1237C>T p.R413C Substitution - Missense Breast COSM4023073 ASH1L c.154C>T p.R52W Substitution - Missense Stomach COSM4041984 ARID2 c.721G>A p.V241I Substitution - Missense Stomach COSM4044326 CHD4 c.3777C>T p.D1259D Substitution - coding silent Stomach COSM3987068 SMARCC2 c.3316A>G p.I1106V Substitution - Missense Kidney COSM4098448 CHD6 c.5851G>A p.E1951K Substitution - Missense Oesophagus COSM4104437 EP300 c.5209C>T p.R1737C Substitution - Missense Stomach COSM4060388 MYST1 c.430C>T p.R144C Substitution - Missense Stomach COSM4075101 MBD3 c.551C>T p.A184V Substitution - Missense Stomach COSM4136945 NCOA3 c.3651+6G>C p.? Unknown Ovary COSM4152512 PBRM1 c.640A>T p.K214* Substitution - Nonsense Kidney COSM4162018 KMT2C c.2315C>T p.S772L Substitution - Missense Upper_aerodigestive_tract COSM4162020 KMT2C c.2189C>A p.S730Y Substitution - Missense Upper_aerodigestive_tract COSM4160658 TCF19 c.657A>C p.P219P Substitution - coding silent Upper_aerodigestive_tract COSM4383877 TET2 c.2810delA p.H937fs*16 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4397366 PYGO2 c.677C>T p.P226L Substitution - Missense Skin COSM4379724 PHF8 c.210G>T p.K70N Substitution - Missense Large_intestine COSM4389306 PHF11 c.959T>C p.M320T Substitution - Missense Pancreas COSM4444643 MBD2 c.1123C>T p.R375* Substitution - Nonsense Large_intestine COSM4591270 KMT2C c.2512G>A p.G838S Substitution - Missense Upper_aerodigestive_tract COSM4504684 KMT2D c.5912C>T p.P1971L Substitution - Missense Skin COSM4592612 KAT2A c.1561G>C p.V521L Substitution - Missense Upper_aerodigestive_tract COSM4518740 ALKBH1 c.782_783GG>AA p.R261K Substitution - Missense Skin COSM4770177 PBRM1 c.4576+5_4576+6insGAG p.? Unknown Soft_tissue COSM4681090 EP300 c.1844T>G p.V615G Substitution - Missense Large_intestine COSM4768878 BPTF c.4284G>C p.E1428D Substitution - Missense Biliary_tract COSM4806796 ASXL1 c.3282G>A p.L1094L Substitution - coding silent Pancreas COSM4795900 TRRAP c.4800G>A p.G1600G Substitution - coding silent Liver COSM4794958 EHMT1 c.985G>A p.D329N Substitution - Missense Liver COSM4891146 ZMYM1 c.2009C>G p.S670* Substitution - Nonsense Upper_aerodigestive_tract COSM4941114 BAZ2B c.3394A>T p.M1132L Substitution - Missense Liver COSM4830403 TCF19 c.546C>T p.L182L Substitution - coding silent Cervix COSM4826424 ASXL3 c.2783C>G p.S928C Substitution - Missense Cervix COSM4991218 SMARCA4 c.808C>T p.P270S Substitution - Missense Skin COSM5008130 TAF1 c.4262T>C p.I1421T Substitution - Missense Large_intestine COSM5347121 ARID1A c.5635C>T p.R1879W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5384770 SETD1A c.4877G>A p.R1626Q Substitution - Missense Skin COSM5356900 PHF15 c.2359G>A p.V787I Substitution - Missense Biliary_tract COSM5514919 HDAC11 c.439G>A p.D147N Substitution - Missense Biliary_tract COSM5520851 BRPF1 c.1504G>A p.A502T Substitution - Missense Biliary_tract COSM5506917 PHF20L1 c.464C>G p.A155G Substitution - Missense Biliary_tract COSM5642245 EYA2 c.796G>C p.E266Q Substitution - Missense Oesophagus COSM5648045 ASXL1 c.1952G>A p.G651D Substitution - Missense Oesophagus COSM5611668 NCOA3 c.865A>T p.M289L Substitution - Missense Adrenal_gland COSM5751181 KDM6A c.595C>AC p.P199fs*8 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM5651117 ACTB c.188G>A p.G63D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5722305 TP53BP1 c.1809T>C p.G603G Substitution - coding silent Skin COSM5603480 EPC2 c.1327C>T p.P443S Substitution - Missense Skin COSM5602391 TAF1 c.1254G>A p.G418G Substitution - coding silent Skin COSM5684084 BPTF c.6316G>T p.V2106F Substitution - Missense Soft_tissue COSM5693083 EYA1 c.522A>T p.Q174H Substitution - Missense Soft_tissue COSM5749630 EP300 c.5608C>T p.Q1870* Substitution - Nonsense Genital_tract COSM5772290 BAHD1 c.291C>A p.P97P Substitution - coding silent Breast COSM5952799 BRD8 c.2591G>A p.W864* Substitution - Nonsense Oesophagus COSM5901498 JHDM1D c.559+5G>A p.? Unknown Skin COSM5980994 SETD6 c.248G>A p.G83D Substitution - Missense Upper_aerodigestive_tract COSM5986494 FMR1 c.989A>T p.E330V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5999989 PRDM11 c.108C>T p.T36T Substitution - coding silent Prostate COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM41885 TET2 c.3871T>C p.W1291R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM166348 DNMT3A c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM43409 TET2 c.? p.?fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52010 TET2 c.? p.T492S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM219174 HDAC9 c.2819C>T p.T940M Substitution - Missense Adrenal_gland COSM1674942 BRD3 c.833G>A p.R278Q Substitution - Missense Large_intestine COSM1625940 HDAC6 c.388T>A p.S130T Substitution - Missense Liver COSM4590343 SETBP1 c.3806A>G p.D1269G Substitution - Missense Upper_aerodigestive_tract COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM930499 KAT5 c.1282G>A p.V428M Substitution - Missense Endometrium COSM3789929 ZMYM1 c.2813G>C p.R938T Substitution - Missense Urinary_tract COSM5936740 TCF20 c.3125G>A p.R1042K Substitution - Missense Skin COSM1406743 ATAD2B_ENST00000238789 c.1404delT p.F468fs*9 Deletion - Frameshift Large_intestine COSM3759496 KDM6A c.2177C>A p.T726K Substitution - Missense Large_intestine COSM88786 EP300 c.6523A>C p.M2175L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5320125 ACTL6B c.922C>T p.P308S Substitution - Missense Skin COSM5652357 EP300 c.6792C>T p.L2264L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3767384 KAT2B c.429A>C p.L143L Substitution - coding silent Liver COSM3738469 TET2 c.? p.G1869E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1615124 PCGF1 c.413T>C p.L138P Substitution - Missense Liver COSM4072243 SETBP1 c.2613T>C p.I871I Substitution - coding silent Stomach COSM194633 SUV420H1 c.2259C>T p.N753N Substitution - coding silent Endometrium COSM86082 KMT2C c.2418C>G p.S806S Substitution - coding silent Large_intestine COSM1483583 PHF20 c.2886G>A p.K962K Substitution - coding silent Breast COSM245709 KMT2C c.13645C>T p.R4549C Substitution - Missense Prostate COSM1007209 MBD5 c.127T>G p.L43V Substitution - Missense Endometrium COSM5723289 SCML2 c.607C>T p.H203Y Substitution - Missense Skin COSM87192 TET2 c.5885C>T p.P1962L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5596768 GATAD2B c.994G>A p.V332M Substitution - Missense Skin COSM4605439 ASH1L c.4675C>A p.R1559R Substitution - coding silent Upper_aerodigestive_tract COSM4169294 ARID1A c.? p.F2141fs*59 Unknown Biliary_tract COSM5516257 KAT2B c.502G>A p.V168M Substitution - Missense Biliary_tract COSM4173910 TDRD1 c.198T>A p.N66K Substitution - Missense Large_intestine COSM3013870 PRDM9 c.2443A>T p.N815Y Substitution - Missense Skin COSM5770823 DNMT3A c.1060T>G p.F354V Substitution - Missense Breast COSM4992833 TIF1 c.1562C>T p.P521L Substitution - Missense Skin COSM3359869 MBD6 c.916G>A p.G306R Substitution - Missense Kidney COSM1328267 BRD8 c.2092G>T p.V698F Substitution - Missense Ovary COSM1114018 ZBTB33 c.122G>A p.R41Q Substitution - Missense Endometrium COSM966440 IDH2 c.1108G>A p.A370T Substitution - Missense Endometrium COSM212431 SCML2 c.224G>A p.R75H Substitution - Missense Breast COSM1179107 KMT2C c.851G>A p.R284Q Substitution - Missense Soft_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5437014 EYA1 c.1396C>A p.Q466K Substitution - Missense Oesophagus COSM5731248 BRWD1 c.4044A>C p.P1348P Substitution - coding silent Central_nervous_system COSM5624780 MECP2 c.1437G>A p.T479T Substitution - coding silent Oesophagus COSM1738037 ASXL1 c.? p.Q695* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM4384718 KMT2D c.9968C>A p.A3323E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3387160 CHD2 c.3004G>A p.A1002T Substitution - Missense Pancreas COSM1646000 SETDB1 c.2462A>G p.D821G Substitution - Missense Liver COSM4694047 KAT5 c.331C>A p.P111T Substitution - Missense Large_intestine COSM1108224 TAF1L c.3755G>A p.R1252Q Substitution - Missense Endometrium COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3590484 FXR1 c.1175G>A p.G392E Substitution - Missense Skin COSM1136112 MUM1 c.1367T>C p.F456S Substitution - Missense Kidney COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM1615583 ACTR5 c.202G>T p.G68C Substitution - Missense Liver COSM4949532 BAP1 c.92delA p.E31fs*41 Deletion - Frameshift Liver COSM3358490 PBRM1 c.3839_3840delCT p.S1280fs*2 Deletion - Frameshift Kidney COSM1109472 KIAA2026_ENST00000399933 c.2247G>T p.K749N Substitution - Missense Endometrium COSM3722541 KMT2A c.5655T>A p.N1885K Substitution - Missense Upper_aerodigestive_tract COSM3920559 PRDM1 c.732C>T p.L244L Substitution - coding silent Skin COSM1168752 ARID2 c.2814_2815insA p.Y939fs*12 Insertion - Frameshift Pancreas COSM284811 SCML2 c.1094G>T p.G365V Substitution - Missense Large_intestine COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1682285 EP300 c.2282A>G p.Q761R Substitution - Missense Large_intestine COSM4391571 SUV39H1 c.133G>T p.V45F Substitution - Missense Breast COSM4163947 UHRF2 c.1479T>G p.G493G Substitution - coding silent Thyroid COSM2961645 MYST3 c.5910T>A p.P1970P Substitution - coding silent Upper_aerodigestive_tract COSM4010181 RERE c.4455C>T p.H1485H Substitution - coding silent Stomach COSM2859782 TRIM24 c.258G>A p.Q86Q Substitution - coding silent Large_intestine COSM4751298 ATAD2B_ENST00000238789 c.3100G>A p.A1034T Substitution - Missense Stomach COSM4022082 SETDB1 c.2944G>A p.A982T Substitution - Missense Stomach COSM3737488 ZMYM3 c.2229C>A p.C743* Substitution - Nonsense Soft_tissue COSM4657184 SMARCA4 c.1343G>A p.R448H Substitution - Missense Large_intestine COSM5345627 PRDM14 c.1598A>C p.D533A Substitution - Missense Large_intestine COSM5753947 KMT2D c.14267C>T p.P4756L Substitution - Missense Large_intestine COSM2175488 HNF1A c.1388A>G p.Q463R Substitution - Missense Large_intestine COSM4399308 CHD7 c.6425C>T p.S2142F Substitution - Missense Skin COSM1348074 ERCC6 c.2776delG p.A926fs*26 Deletion - Frameshift Large_intestine COSM4185484 MGA c.3175_3176delTC p.S1059fs*32 Deletion - Frameshift Kidney COSM4977058 BTAF1 c.178A>G p.I60V Substitution - Missense Oesophagus COSM2154957 EHMT2 c.2592T>G p.H864Q Substitution - Missense Central_nervous_system COSM1237311 MEN1 c.784-1G>C p.? Unknown Parathyroid COSM4593742 AP001011.3_ENST00000320876 c.35C>G p.A12G Substitution - Missense Upper_aerodigestive_tract COSM4170437 KMT2D c.5785delT p.Y1929fs*65 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1621724 TDRD6 c.12G>A p.T4T Substitution - coding silent Liver COSM5808782 EYA1 c.940T>G p.S314A Substitution - Missense Liver COSM3494292 MTA1 c.1905C>T p.I635I Substitution - coding silent Skin COSM3387769 PHF12 c.2746G>A p.A916T Substitution - Missense Pancreas COSM1618419 SETD7 c.142C>T p.R48W Substitution - Missense Liver COSM3896553 ATAD2 c.2610A>G p.G870G Substitution - coding silent Stomach COSM5950498 SFMBT2 c.2291G>A p.R764Q Substitution - Missense Prostate COSM1669318 BAZ2B c.2104G>T p.G702C Substitution - Missense Large_intestine COSM1716793 TET2 c.? p.G1861fs*26 Frameshift Haematopoietic_and_lymphoid_tissue COSM5056620 SIRT2 c.591C>T p.S197S Substitution - coding silent Stomach COSM3414649 PCGF6 c.940G>C p.E314Q Substitution - Missense Large_intestine COSM5965920 HDAC6 c.1170C>A p.A390A Substitution - coding silent Breast COSM5725859 CREBBP c.3060+1G>A p.? Unknown Skin COSM1362002 KMT2D c.8892C>T p.D2964D Substitution - coding silent Large_intestine COSM1753989 BRD8 c.671C>T p.S224F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3998369 PRMT3 c.552A>G p.Q184Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3983274 NCOR1 c.3278A>C p.Q1093P Substitution - Missense Ovary COSM1579361 SFMBT1 c.1430G>A p.R477K Substitution - Missense Fallopian_tube COSM3092225 SMARCA2 c.4734A>G p.E1578E Substitution - coding silent Large_intestine COSM749289 PHF20L1 c.97A>G p.I33V Substitution - Missense Lung COSM4110055 KDM5C c.1901G>A p.R634H Substitution - Missense Stomach COSM2139529 ALKBH1 c.799G>A p.A267T Substitution - Missense Large_intestine COSM4111136 ATRX c.5203A>G p.M1735V Substitution - Missense Stomach COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5727897 BAZ2B c.805G>A p.E269K Substitution - Missense Skin COSM3650716 EYA1 c.1300T>C p.L434L Substitution - coding silent Skin COSM1609873 NCOR1 c.6502T>C p.L2168L Substitution - coding silent Liver COSM3670450 TDRD1 c.2622C>A p.T874T Substitution - coding silent Prostate COSM5194294 KMT2C c.7307_7308insC p.P2437fs*8 Insertion - Frameshift Breast COSM4510560 CHD9 c.8468C>T p.S2823F Substitution - Missense Skin COSM4928865 ING2 c.469A>G p.T157A Substitution - Missense Liver COSM4961602 CHD6 c.4952C>A p.T1651N Substitution - Missense Pancreas COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4957277 SETD5_ENST00000402198 c.2648A>G p.N883S Substitution - Missense Liver COSM13856 CHD6 c.6679C>T p.P2227S Substitution - Missense Skin COSM175063 L3MBTL4 c.635C>T p.A212V Substitution - Missense Endometrium COSM1296893 PCGF6 c.141T>G p.P47P Substitution - coding silent Urinary_tract COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5371781 KMT2A c.11340C>T p.F3780F Substitution - coding silent Skin COSM1297124 SUV39H2 c.630G>A p.K210K Substitution - coding silent Urinary_tract COSM1994686 AICDA c.22C>T p.R8W Substitution - Missense Liver COSM1133048 ARID1A c.606_607delTC p.H203fs*196 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1620694 CHD1 c.4138A>T p.R1380* Substitution - Nonsense Liver COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM294554 MECOM c.1536delT p.P513fs*15 Deletion - Frameshift Large_intestine COSM3153139 EP300 c.3602G>A p.C1201Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1700241 EYA1 c.1373C>T p.P458L Substitution - Missense Skin COSM5747022 PHF2 c.1346T>C p.V449A Substitution - Missense Pancreas COSM1418819 MBD4 c.1534C>T p.R512W Substitution - Missense Large_intestine COSM4485596 TP53BP1 c.2935C>T p.P979S Substitution - Missense Skin COSM4385607 TET2 c.5010_5011insA p.S1671fs*16 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1377812 CREBBP c.6072G>A p.A2024A Substitution - coding silent Large_intestine COSM1027541 NCOA3 c.2561G>A p.R854Q Substitution - Missense Large_intestine COSM1080957 PHF3 c.3611G>A p.R1204Q Substitution - Missense Endometrium COSM4156647 FMR1 c.1215A>G p.G405G Substitution - coding silent Thyroid COSM1233150 ZBTB4 c.2311G>A p.A771T Substitution - Missense Large_intestine COSM4789742 PRMT2 c.406C>G p.L136V Substitution - Missense Liver COSM738849 CHD1 c.1637A>C p.Q546P Substitution - Missense Lung COSM1179644 TRRAP c.8399A>G p.Q2800R Substitution - Missense Prostate COSM4767657 NCOR1 c.3275G>A p.R1092Q Substitution - Missense Biliary_tract COSM1677420 KDM2B c.752G>A p.R251Q Substitution - Missense Large_intestine COSM3393521 PRDM9 c.610+7G>T p.? Unknown Pancreas COSM1462012 TAF1L c.1947G>T p.Q649H Substitution - Missense Large_intestine COSM1093563 TRRAP c.1356C>T p.F452F Substitution - coding silent Skin COSM4959679 BPTF c.6984G>A p.Q2328Q Substitution - coding silent Liver COSM1436049 DUSP1 c.991C>T p.R331* Substitution - Nonsense Large_intestine COSM147497 KMT2D c.2015-8C>T p.? Unknown Soft_tissue COSM5508601 BAP1 c.429C>T p.S143S Substitution - coding silent Biliary_tract COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4642020 GLYR1 c.1150G>C p.E384Q Substitution - Missense Large_intestine COSM3402360 CHD9 c.5921C>T p.A1974V Substitution - Missense Central_nervous_system COSM1454654 ATAD2 c.1171A>C p.N391H Substitution - Missense Large_intestine COSM1443782 DAXX c.2016C>T p.P672P Substitution - coding silent Large_intestine COSM5370342 MGMT c.424C>T p.L142F Substitution - Missense Skin COSM198515 BTAF1 c.2736G>A p.T912T Substitution - coding silent Stomach COSM5749003 JARID2 c.493+2T>A p.? Unknown Pancreas COSM49149 EZH2 c.745G>A p.E249K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3521188 BPTF c.3666T>G p.S1222R Substitution - Missense Skin COSM1289802 BAZ2A c.5335C>T p.Q1779* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4385139 ASXL1 c.4069G>A p.A1357T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM88784 EP300 c.4879C>T p.R1627W Substitution - Missense Large_intestine COSM1166675 KMT2A c.7384C>A p.P2462T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3064249 BRD1 c.743T>C p.V248A Substitution - Missense Stomach COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2270982 ASXL1 c.1249C>T p.R417* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3738505 TET2 c.4183-16_4183-6del11 p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3524749 AP001011.3_ENST00000320876 c.4108C>T p.R1370C Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3718982 TET2 c.650delC p.V218fs*32 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5629923 ZMYM1 c.3222G>T p.L1074F Substitution - Missense Oesophagus COSM1326361 SP100 c.618G>C p.E206D Substitution - Missense Ovary COSM3546380 CHD6 c.802G>A p.A268T Substitution - Missense Skin COSM447712 WHSC1 c.2027C>G p.P676R Substitution - Missense Breast COSM1192753 CBX5 c.317delA p.K106fs*31 Deletion - Frameshift Large_intestine COSM86981 EZH2 c.736G>T p.E246* Substitution - Nonsense Endometrium COSM1611522 SMARCA4 c.513A>G p.P171P Substitution - coding silent Liver COSM295972 ASH1L c.2119A>G p.K707E Substitution - Missense Large_intestine COSM5400257 TET2 c.1256C>T p.P419L Substitution - Missense Skin COSM4950574 PRDM1 c.1574C>A p.T525N Substitution - Missense Liver COSM730713 SETD2 c.3464C>T p.S1155L Substitution - Missense Kidney COSM21486 HNF1A c.872delC p.P291fs*51 Deletion - Frameshift Large_intestine COSM4152515 PBRM1 c.190C>T p.Q64* Substitution - Nonsense Kidney COSM1440973 SHPRH c.246A>G p.P82P Substitution - coding silent Large_intestine COSM5418984 MGA c.842G>A p.G281E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1460732 GTF3C4 c.2129G>A p.R710H Substitution - Missense Large_intestine COSM5067297 TDG c.613_615-3del201 p.? Unknown Large_intestine COSM1635835 CHD7 c.4922C>A p.T1641N Substitution - Missense Liver COSM682848 RERE c.386A>T p.D129V Substitution - Missense Lung COSM920100 SFMBT2 c.656G>A p.R219H Substitution - Missense Endometrium COSM3160252 PHF3 c.1401T>C p.L467L Substitution - coding silent Large_intestine COSM1240261 SMARCA4 c.2695A>G p.T899A Substitution - Missense Oesophagus COSM5479138 CHD9 c.3292A>G p.I1098V Substitution - Missense Large_intestine COSM2134934 ZMYND11 c.1074A>G p.G358G Substitution - coding silent Stomach COSM309549 BTAF1 c.3621G>C p.T1207T Substitution - coding silent Lung COSM4992922 KMT2C c.8593G>A p.G2865R Substitution - Missense Skin COSM390234 PRDM5 c.1807G>A p.E603K Substitution - Missense Lung COSM3349824 DAXX c.495C>A p.S165S Substitution - coding silent Large_intestine COSM1284747 EP400 c.8617G>T p.A2873S Substitution - Missense Autonomic_ganglia COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3801806 VPS72 c.822C>T p.F274F Substitution - coding silent Breast COSM696920 RNF17 c.788T>A p.I263N Substitution - Missense Lung COSM3743707 ATAD2B_ENST00000238789 c.3797A>G p.N1266S Substitution - Missense Liver COSM3460969 ARID2 c.2173C>T p.Q725* Substitution - Nonsense Pancreas COSM5104135 BAHCC1 c.1671delG p.G559fs*75 Deletion - Frameshift Large_intestine COSM4133536 SP140_ENST00000392045 c.2391G>A p.E797E Substitution - coding silent Thyroid COSM1484826 MECOM c.3117G>A p.A1039A Substitution - coding silent Breast COSM1942670 SETDB2 c.2145delA p.I718fs*>2 Deletion - Frameshift Stomach COSM255213 MEN1 c.1621A>G p.T541A Substitution - Missense Soft_tissue COSM5413124 ATRX c.3973G>A p.D1325N Substitution - Missense Skin COSM990757 SMARCA4 c.3631G>A p.E1211K Substitution - Missense Endometrium COSM4592007 RAI1 c.841_843delCAG p.Q291delQ Deletion - In frame Upper_aerodigestive_tract COSM5041869 CTCF c.1505A>T p.Y502F Substitution - Missense Liver COSM3900847 CHD7 c.84T>C p.G28G Substitution - coding silent Stomach COSM4124868 GABRG1 c.186A>C p.G62G Substitution - coding silent Stomach COSM3968226 ARID2 c.1126G>A p.E376K Substitution - Missense Central_nervous_system COSM3357176 PRMT1 c.1026C>T p.T342T Substitution - coding silent Large_intestine COSM423281 PBRM1 c.3279_3280insT p.V1094fs*13 Insertion - Frameshift Kidney COSM4430158 ARID1A c.4766C>T p.A1589V Substitution - Missense Oesophagus COSM3669919 NCOA2 c.3997A>G p.T1333A Substitution - Missense Liver COSM5732631 PHF7 c.479G>A p.C160Y Substitution - Missense Pancreas COSM1682573 PHF16 c.1435C>A p.L479M Substitution - Missense Large_intestine COSM166289 TET2 c.3404G>A p.C1135Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5606488 DOT1L c.4392C>T p.F1464F Substitution - coding silent Skin COSM4689674 HDAC2 c.32_33delAA p.K11fs*8 Deletion - Frameshift Biliary_tract COSM3108950 GTF3C1 c.925C>T p.R309C Substitution - Missense Skin COSM5720356 CHD1 c.3610A>T p.I1204L Substitution - Missense Skin COSM1165428 ARID1B c.3873G>A p.M1291I Substitution - Missense Large_intestine COSM190399 BRD7 c.1834C>T p.R612* Substitution - Nonsense Cervix COSM913250 BRDT c.2805A>C p.Q935H Substitution - Missense Endometrium COSM2064482 HCFC2 c.1413T>C p.N471N Substitution - coding silent Large_intestine COSM111693 KAT6B c.3289_3291delGAA p.E1097delE Deletion - In frame Pancreas COSM3528417 SMARCA4 c.1548G>A p.K516K Substitution - coding silent Skin COSM5347624 PBRM1 c.237-1_237delGA p.? Unknown Liver COSM5802026 GATAD2B c.1013delG p.S338fs*5 Deletion - Frameshift Breast COSM245912 KAT6B c.6086G>T p.G2029V Substitution - Missense Prostate COSM2229068 EP400 c.2217A>G p.I739M Substitution - Missense Large_intestine COSM1723044 CBX4 c.1198_1200delCAC p.H400delH Deletion - In frame Upper_aerodigestive_tract COSM4882737 INOC1 c.1574G>T p.G525V Substitution - Missense Upper_aerodigestive_tract COSM208335 TBL1XR1 c.1177G>T p.E393* Substitution - Nonsense Endometrium COSM5996703 ARID1B c.3456G>A p.G1152G Substitution - coding silent Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5440261 UHRF1 c.2106C>T p.N702N Substitution - coding silent Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5486330 MECOM c.2977C>T p.P993S Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4942436 BMI1 c.618A>G p.L206L Substitution - coding silent Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM721729 MSH6 c.889G>A p.A297T Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1700790 SMARCA2 c.3449C>T p.P1150L Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3668829 BAZ2B c.1790A>G p.D597G Substitution - Missense Liver COSM1187515 ELP3 c.1384C>T p.R462C Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4451830 CHD3 c.1251A>T p.K417N Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1628116 PHRF1 c.3352C>T p.R1118W Substitution - Missense Liver COSM1754406 PRDM1 c.549G>A p.M183I Substitution - Missense Urinary_tract COSM3939506 PRDM15 c.2428A>G p.I810V Substitution - Missense Oesophagus COSM1107409 PSIP1 c.961C>A p.Q321K Substitution - Missense Endometrium COSM5366488 EP300 c.454G>T p.G152C Substitution - Missense Large_intestine COSM5729144 PWWP2B c.1103C>T p.P368L Substitution - Missense Skin COSM81938 ZMYM2 c.3153A>G p.V1051V Substitution - coding silent Ovary COSM1602142 ARID1A c.2530C>T p.Q844* Substitution - Nonsense Endometrium COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2270908 MGA c.7447C>T p.R2483W Substitution - Missense Large_intestine COSM1717365 SETBP1 c.2620G>T p.D874Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4767473 CREBBP c.6479C>T p.A2160V Substitution - Missense Biliary_tract COSM1401403 ATF2 c.935C>T p.P312L Substitution - Missense Kidney COSM302137 EP400 c.8181A>G p.Q2727Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3356830 CREBBP c.4293T>C p.I1431I Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3733266 SMARCA4 c.3186C>G p.H1062Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4152501 PBRM1 c.1819-2A>T p.? Unknown Kidney COSM3837133 BAZ2B c.1661C>G p.S554C Substitution - Missense Breast COSM302137 EP400 c.8181A>G p.Q2727Q Substitution - coding silent Biliary_tract COSM263773 AP001011.3_ENST00000320876 c.1676T>G p.F559C Substitution - Missense Large_intestine COSM302137 EP400 c.8181A>G p.Q2727Q Substitution - coding silent Central_nervous_system COSM3160334 PHF3 c.5342C>A p.T1781N Substitution - Missense Large_intestine COSM2889294 ASXL1 c.3084G>A p.S1028S Substitution - coding silent Large_intestine COSM3980837 KDM2B c.210C>T p.G70G Substitution - coding silent Ovary COSM1420488 MECOM c.753delT p.F251fs*21 Deletion - Frameshift Large_intestine COSM5609448 MSH6 c.2695G>T p.E899* Substitution - Nonsense Skin COSM4384322 KMT2C c.8092G>A p.E2698K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4593941 L3MBTL2 c.697G>C p.A233P Substitution - Missense Soft_tissue COSM211622 TET2 c.3899T>G p.F1300C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4454017 DOT1L c.3881A>C p.K1294T Substitution - Missense Skin COSM5005456 AP001011.3_ENST00000320876 c.2211C>T p.S737S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM164844 TDRD6 c.1501G>A p.E501K Substitution - Missense Breast COSM5390428 KDM4B c.972C>T p.I324I Substitution - coding silent Skin COSM2038997 MTA2 c.385delT p.Y129fs*33 Deletion - Frameshift Large_intestine COSM5787214 EP400 c.5714A>T p.Y1905F Substitution - Missense Breast COSM471948 CTCF c.1548C>T p.T516T Substitution - coding silent Kidney COSM1437274 NIPBL c.2838delG p.G948fs*6 Deletion - Frameshift Large_intestine COSM22005 NCOA3 c.2673G>A p.M891I Substitution - Missense Skin COSM30425 KMT2D c.12246G>A p.E4082E Substitution - coding silent Skin COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM22652 MEN1 c.806_824del19 p.? Unknown Pituitary COSM41875 IDH2 c.419G>T p.R140L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM46454 HNF1A c.327-1G>T p.? Unknown Liver COSM87182 TET2 c.5482C>T p.Q1828* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM94140 DNMT1 c.2339C>T p.T780M Substitution - Missense Lung COSM116990 WHSC1L1 c.824G>C p.W275S Substitution - Missense Ovary COSM125570 PRDM9 c.1634C>G p.T545R Substitution - Missense Upper_aerodigestive_tract COSM144516 TET2 c.1842_1843insG p.L615fs*23 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM184236 ARID1A c.2077C>T p.R693* Substitution - Nonsense Stomach COSM211693 TET2 c.2800G>T p.G934* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM220440 HDAC7 c.464C>T p.S155F Substitution - Missense Skin COSM228145 GLYATL1 c.406+1G>A p.? Unknown Skin COSM226804 CBX8 c.383G>A p.G128D Substitution - Missense Skin COSM281631 HCFC2 c.2304G>T p.K768N Substitution - Missense Large_intestine COSM307120 SETD8 c.267C>T p.A89A Substitution - coding silent Central_nervous_system COSM356396 SCML2 c.364G>A p.E122K Substitution - Missense Lung COSM415789 KDM2A c.2320C>T p.R774W Substitution - Missense Urinary_tract COSM985400 CBX2 c.409C>T p.R137C Substitution - Missense Large_intestine COSM915014 TDRD1 c.1276G>T p.E426* Substitution - Nonsense Endometrium COSM955475 BAZ1A c.598G>T p.E200* Substitution - Nonsense Endometrium COSM1027521 ZMYND8 c.2206G>T p.D736Y Substitution - Missense Endometrium COSM737904 NIPBL c.3510G>A p.R1170R Substitution - coding silent Lung COSM1007212 MBD5 c.257C>T p.T86I Substitution - Missense Endometrium COSM1038078 MBD4 c.1132C>T p.R378C Substitution - Missense Endometrium COSM1060222 LMNB1 c.675G>A p.T225T Substitution - coding silent Endometrium COSM1629609 PYGO1 c.674C>T p.P225L Substitution - Missense Liver COSM1109439 KIAA2026_ENST00000399933 c.4612G>A p.A1538T Substitution - Missense Endometrium COSM1108239 TAF1L c.2289G>T p.E763D Substitution - Missense Endometrium COSM1113710 MSL3 c.866A>C p.K289T Substitution - Missense Endometrium COSM1125855 BRWD3 c.2176C>A p.L726I Substitution - Missense Endometrium COSM1087033 EZH2 c.2233G>A p.E745K Substitution - Missense Endometrium COSM1177793 KDM4B c.2138C>T p.P713L Substitution - Missense Large_intestine COSM1178902 TAF1L c.3571C>T p.R1191* Substitution - Nonsense Prostate COSM1212330 KIAA2026_ENST00000399933 c.1516C>T p.R506W Substitution - Missense Large_intestine COSM1168023 TET2 c.4165C>T p.Q1389* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1317977 CHD4 c.3517C>T p.R1173W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1380020 CDYL2 c.782C>T p.T261M Substitution - Missense Large_intestine COSM1411089 ASXL1 c.2674T>G p.S892A Substitution - Missense Large_intestine COSM1448989 EZH2 c.1730C>T p.P577L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1488102 MLL5 c.1183G>T p.V395F Substitution - Missense Breast COSM1581044 IDH1 c.59G>A p.R20Q Substitution - Missense Prostate COSM1633249 BAP1 c.788_789insT p.R264fs*20 Insertion - Frameshift Liver COSM1688648 GATAD2B c.1102C>T p.P368S Substitution - Missense Skin COSM1674940 BRD3 c.1984C>T p.Q662* Substitution - Nonsense Skin COSM1698418 STK31 c.391C>T p.P131S Substitution - Missense Skin COSM1709088 SETD1A c.1046C>T p.S349L Substitution - Missense Skin COSM1746695 HCFC2 c.304G>T p.E102* Substitution - Nonsense Urinary_tract COSM1724984 TET2 c.3765C>A p.Y1255* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1997433 ACTA1 c.886T>C p.Y296H Substitution - Missense Large_intestine COSM2036827 PHRF1 c.1781C>T p.T594I Substitution - Missense Upper_aerodigestive_tract COSM2077934 HDAC1 c.844G>A p.A282T Substitution - Missense Large_intestine COSM2156277 TDRD7 c.1985G>T p.C662F Substitution - Missense Central_nervous_system COSM2095548 TDRD5 c.2152C>T p.R718C Substitution - Missense Urinary_tract COSM2210741 ASH1L c.1554G>A p.K518K Substitution - coding silent Large_intestine COSM3384540 MBD6 c.1903G>C p.A635P Substitution - Missense Pancreas COSM3392697 PHF17 c.1466T>G p.L489R Substitution - Missense Pancreas COSM3371647 ASXL1 c.3896G>A p.G1299D Substitution - Missense Thyroid COSM3371705 ZMYND8 c.1524C>T p.S508S Substitution - coding silent Thyroid COSM3380653 PBRM1 c.2126T>A p.I709N Substitution - Missense Pancreas COSM3479342 TDRD5 c.2700G>A p.V900V Substitution - coding silent Skin COSM3457104 HNF1A c.702G>A p.E234E Substitution - coding silent Skin COSM3622172 JARID2 c.1175C>T p.S392F Substitution - Missense Skin COSM3632984 SND1 c.574C>T p.Q192* Substitution - Nonsense Skin COSM3578861 SP110 c.1830C>T p.L610L Substitution - coding silent Skin COSM3523583 BAHCC1 c.1703C>T p.S568F Substitution - Missense Skin COSM3666565 ATF7IP c.253_254insA p.A86fs*13 Insertion - Frameshift Liver COSM3713854 SMARCA1 c.824G>T p.R275L Substitution - Missense Upper_aerodigestive_tract COSM3802030 TDRD10 c.649G>A p.E217K Substitution - Missense Breast COSM3840730 ASXL1 c.2817A>G p.A939A Substitution - coding silent Breast COSM3900242 MYST3 c.3528T>A p.S1176R Substitution - Missense Stomach COSM3900872 CHD7 c.5053T>C p.L1685L Substitution - coding silent Stomach COSM3964349 EP300 c.2132-2A>G p.? Unknown Lung COSM3966537 PHC2 c.270C>T p.T90T Substitution - coding silent Central_nervous_system COSM4031016 ARID1A c.4337G>A p.R1446Q Substitution - Missense Stomach COSM4005985 NSD1 c.776C>T p.S259L Substitution - Missense Oesophagus COSM3992576 TAF1 c.4665+2T>C p.? Unknown Kidney COSM3989559 SETBP1 c.45C>T p.G15G Substitution - coding silent Kidney COSM4109548 KDM6A c.542C>T p.T181I Substitution - Missense Stomach COSM4124005 WHSC1 c.2803C>T p.R935* Substitution - Nonsense Stomach COSM4130767 CHD3 c.2547G>T p.R849S Substitution - Missense Thyroid COSM4153328 BRPF3 c.1944C>G p.Y648* Substitution - Nonsense Ovary COSM4162018 KMT2C c.2315C>T p.S772L Substitution - Missense Upper_aerodigestive_tract COSM4169226 SUZ12 c.283C>A p.Q95K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4222583 LMNA c.1870C>T p.R624C Substitution - Missense Large_intestine COSM4383841 TET2 c.2277_2278delTT p.F760fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4387431 BAP1 c.422A>G p.H141R Substitution - Missense Eye COSM4595925 ARID2 c.3559G>A p.V1187M Substitution - Missense Upper_aerodigestive_tract COSM4430583 BAZ1B c.1398A>G p.K466K Substitution - coding silent Oesophagus COSM4505945 SRCAP c.7063C>T p.R2355C Substitution - Missense Skin COSM4500316 CHD7 c.5623C>T p.P1875S Substitution - Missense Thyroid COSM4591270 KMT2C c.2512G>A p.G838S Substitution - Missense Upper_aerodigestive_tract COSM4421418 ASXL3 c.234G>T p.K78N Substitution - Missense Pleura COSM4677521 DIDO1 c.859C>T p.R287C Substitution - Missense Large_intestine COSM4788492 SP100 c.2236G>A p.E746K Substitution - Missense Liver COSM4895927 TDRD5 c.846C>T p.F282F Substitution - coding silent Skin COSM4922277 LBR c.75A>G p.V25V Substitution - coding silent Liver COSM4933336 JARID2 c.2708T>A p.L903Q Substitution - Missense Liver COSM4846042 ING4 c.416C>A p.A139D Substitution - Missense Cervix COSM4820714 SFMBT2 c.17C>G p.S6* Substitution - Nonsense Cervix COSM4823217 CHD3 c.115C>G p.R39G Substitution - Missense Cervix COSM4825613 CXXC1 c.1711G>C p.D571H Substitution - Missense Cervix COSM4998905 ARID1A c.5784G>C p.K1928N Substitution - Missense Pancreas COSM4995402 KDM1A c.154C>T p.P52S Substitution - Missense Upper_aerodigestive_tract COSM5024902 KMT2D c.5114_5130del17 p.G1705fs*12 Deletion - Frameshift Breast COSM5056469 DOT1L c.4034C>A p.A1345D Substitution - Missense Stomach COSM5054592 IDH2 c.945G>A p.V315V Substitution - coding silent Stomach COSM5092686 ZMYM1 c.3398A>G p.E1133G Substitution - Missense Large_intestine COSM5048706 KMT2D c.14458delA p.T4820fs*57 Deletion - Frameshift Oesophagus COSM5390348 KDM4B c.144C>T p.I48I Substitution - coding silent Skin COSM5366943 SUV39H1 c.750G>A p.T250T Substitution - coding silent Large_intestine COSM5418888 ATRX c.715T>C p.F239L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5506126 RUVBL1 c.951C>T p.R317R Substitution - coding silent Biliary_tract COSM5448734 BAHD1 c.1679G>T p.R560M Substitution - Missense Large_intestine COSM5648371 BAZ1B c.4315C>T p.L1439L Substitution - coding silent Oesophagus COSM5754840 SRCAP c.1069C>T p.H357Y Substitution - Missense Large_intestine COSM5755309 GATAD2A c.1113G>T p.E371D Substitution - Missense Large_intestine COSM5722154 ING1 c.141C>T p.I47I Substitution - coding silent Skin COSM5581452 KDM5A c.3002C>T p.A1001V Substitution - Missense Skin COSM5611434 BAP1 c.40delC p.L14fs*58 Deletion - Frameshift Pleura COSM5565651 SRCAP c.1010G>A p.R337H Substitution - Missense Prostate COSM5573325 EHMT1 c.3166-3C>A p.? Unknown Prostate COSM5802651 TRIM33 c.3297T>A p.G1099G Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5944899 DNMT3A c.2408+5G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5945021 TET2 c.1795C>T p.Q599* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5948737 ACTB c.151G>T p.D51Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5910554 BAZ1B c.4195C>T p.R1399C Substitution - Missense Skin COSM5955210 TRRAP c.9945G>A p.L3315L Substitution - coding silent Upper_aerodigestive_tract COSM5954002 MBD4 c.1675G>C p.E559Q Substitution - Missense Upper_aerodigestive_tract COSM5979868 EPC1 c.551_552insA p.N184fs*23 Insertion - Frameshift Upper_aerodigestive_tract COSM5975879 ARID1B c.5483C>T p.P1828L Substitution - Missense Upper_aerodigestive_tract COSM4169391 ARID1A c.? p.G800E Substitution - Missense Skin COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM219067 TET2 c.? p.G1256A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Bone COSM1666929 TET2 c.? p.L651P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM3498273 ALKBH1 c.855G>C p.L285F Substitution - Missense Skin COSM2034967 GLYATL1 c.432G>A p.G144G Substitution - coding silent Skin COSM96522 TET2 c.3202C>T p.Q1068* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4774855 KMT2D c.14317A>C p.T4773P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM86082 KMT2C c.2418C>G p.S806S Substitution - coding silent Large_intestine COSM1716917 TET2 c.1467_1468insT p.I490fs*14 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM985529 CHD3 c.5159A>G p.H1720R Substitution - Missense Endometrium COSM4805931 SMARCC1 c.1809T>C p.T603T Substitution - coding silent Liver COSM176558 NIPBL c.134G>A p.R45Q Substitution - Missense Stomach COSM2002823 ATF7IP c.953delA p.N320fs*7 Deletion - Frameshift Large_intestine COSM5554470 DIDO1 c.3432C>T p.G1144G Substitution - coding silent Prostate COSM4042399 KMT2D c.3049C>T p.R1017W Substitution - Missense Small_intestine COSM3637020 HDAC9 c.1258C>T p.P420S Substitution - Missense Skin COSM3441890 HELLS c.1845T>G p.G615G Substitution - coding silent Skin COSM5752534 KMT2C c.4853C>G p.S1618* Substitution - Nonsense Breast COSM4771399 KMT2C c.4406C>T p.S1469F Substitution - Missense Breast COSM41099 HDAC9 c.847A>G p.N283D Substitution - Missense Central_nervous_system COSM683254 TDRD1 c.301G>A p.G101R Substitution - Missense Lung COSM1299425 KMT2D c.14501G>A p.C4834Y Substitution - Missense Urinary_tract COSM3428024 TET2 c.3569C>A p.S1190Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1245457 ARID2 c.3025G>A p.V1009M Substitution - Missense Oesophagus COSM5719425 TDRD5 c.2886G>T p.R962R Substitution - coding silent Skin COSM4849032 NSD1 c.1930G>A p.D644N Substitution - Missense Cervix COSM4119060 BAP1 c.1622T>G p.V541G Substitution - Missense Stomach COSM3640346 BAZ1B c.1627C>T p.R543W Substitution - Missense Skin COSM3403180 PHF23 c.823C>T p.L275L Substitution - coding silent Central_nervous_system COSM5702520 BAP1 c.1518_1522delACTGC p.R508fs*27 Deletion - Frameshift Eye COSM5589752 ASXL3 c.898G>A p.E300K Substitution - Missense Skin COSM4796801 KDM2A c.1564-1G>A p.? Unknown Liver COSM3862915 ASH1L c.6353C>T p.S2118F Substitution - Missense Skin COSM4162008 KMT2C c.2578C>T p.P860S Substitution - Missense Large_intestine COSM4963371 SP110 c.1403G>T p.C468F Substitution - Missense Pancreas COSM328876 ATRX c.5972C>T p.S1991F Substitution - Missense Liver COSM1645469 TAF1 c.3674G>A p.R1225Q Substitution - Missense Large_intestine COSM4170125 TET2 c.2421delG p.E808fs*5 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4801391 SMARCC2 c.1741A>T p.M581L Substitution - Missense Liver COSM4780584 BPTF c.5491G>T p.G1831C Substitution - Missense Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM1087035 EZH2 c.2178G>T p.E726D Substitution - Missense Endometrium COSM3891706 BRD4 c.581C>T p.S194F Substitution - Missense Skin COSM697918 BAZ1A c.1399G>A p.E467K Substitution - Missense Lung COSM4934954 SMYD1 c.849G>C p.L283L Substitution - coding silent Liver COSM1251139 ELP3 c.533C>T p.P178L Substitution - Missense Stomach COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM285643 TDRD6 c.3935C>A p.S1312Y Substitution - Missense Large_intestine COSM4647221 HELLS c.1521A>G p.R507R Substitution - coding silent Large_intestine COSM5700371 CHD8 c.1357G>C p.E453Q Substitution - Missense Soft_tissue COSM3501096 MGA c.801C>T p.P267P Substitution - coding silent Skin COSM1627308 SMNDC1 c.207T>C p.P69P Substitution - coding silent Liver COSM5734045 TIF1 c.2986G>A p.D996N Substitution - Missense Pancreas COSM1411125 DNMT3B c.1633C>T p.R545C Substitution - Missense Large_intestine COSM353569 ATAD2 c.460G>T p.V154L Substitution - Missense Lung COSM3860004 ARID1B c.6600C>T p.H2200H Substitution - coding silent Stomach COSM3902423 TDRD7 c.2443G>A p.A815T Substitution - Missense Stomach COSM4008814 ORC1 c.434C>T p.P145L Substitution - Missense Stomach COSM1483713 NCOA3 c.3741_3749delGCAGCAGCA p.Q1274_Q1276delQQQ Deletion - In frame Large_intestine COSM3707699 ASXL1 c.460G>C p.A154P Substitution - Missense Liver COSM4035371 DPF2 c.216C>T p.Y72Y Substitution - coding silent Stomach COSM1683780 TTF2 c.1749delG p.W583fs*18 Deletion - Frameshift Lung COSM907758 ARID1A c.6703_6706delGCCC p.A2237fs*29 Deletion - Frameshift Endometrium COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1716899 ATRX c.1339G>A p.E447K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5689351 TAF3 c.1118G>T p.S373I Substitution - Missense Soft_tissue COSM5435708 CAMKMT c.215C>G p.S72* Substitution - Nonsense Oesophagus COSM3433183 KIAA2026_ENST00000399933 c.1250C>T p.P417L Substitution - Missense Large_intestine COSM452650 SMARCD3 c.1363delC p.Q455fs*>16 Deletion - Frameshift Breast COSM1186837 BRD8 c.313G>T p.V105F Substitution - Missense Lung COSM1757284 ZMYM3 c.1199C>G p.S400C Substitution - Missense Urinary_tract COSM3964684 SMARCA1 c.2851C>A p.R951S Substitution - Missense Lung COSM2952696 TET2 c.679_680insA p.T229fs*25 Insertion - Frameshift Large_intestine COSM1159250 ARID2 c.1716-1G>A p.? Unknown Pancreas COSM100053 TET2 c.2656C>T p.Q886* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM357992 ING5 c.425G>A p.G142D Substitution - Missense Lung COSM963075 PYGO1 c.645G>A p.P215P Substitution - coding silent Endometrium COSM5352296 EP300 c.? p.V279A Substitution - Missense Endometrium COSM1312877 KMT2C c.4541-1G>C p.? Unknown Urinary_tract COSM4623767 RERE c.3220G>A p.A1074T Substitution - Missense Large_intestine COSM1752045 MBD5 c.1113G>C p.Q371H Substitution - Missense Urinary_tract COSM5979658 SMARCA2 c.4147C>A p.L1383M Substitution - Missense Upper_aerodigestive_tract COSM1235374 ARID1A c.942C>G p.G314G Substitution - coding silent Breast COSM2804941 BAHCC1 c.2068G>A p.D690N Substitution - Missense Cervix COSM4888677 KMT2C c.3345G>A p.Q1115Q Substitution - coding silent Upper_aerodigestive_tract COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4611398 ZMYM2 c.3124delA p.K1044fs*33 Deletion - Frameshift Large_intestine COSM3408420 PHC3 c.1810G>A p.G604R Substitution - Missense Central_nervous_system COSM81018 CHD7 c.3687T>G p.L1229L Substitution - coding silent Ovary COSM1030939 PRDM15 c.3439C>T p.R1147C Substitution - Missense Endometrium COSM1189545 BPTF c.644G>A p.R215H Substitution - Missense Lung COSM1372834 MGA c.7293T>C p.C2431C Substitution - coding silent Large_intestine COSM932715 EED c.1129C>A p.L377I Substitution - Missense Endometrium COSM4766108 TET2 c.3954+2T>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5647375 BRWD1 c.1912A>G p.I638V Substitution - Missense Oesophagus COSM708009 ASXL3 c.2559T>C p.S853S Substitution - coding silent Lung COSM3757070 KDM4B c.1080A>G p.A360A Substitution - coding silent Large_intestine COSM1196780 BAZ2A c.4436G>A p.R1479Q Substitution - Missense Lung COSM4929644 PHF10 c.553G>T p.E185* Substitution - Nonsense Liver COSM4894474 NSD1 c.5559G>A p.E1853E Substitution - coding silent Skin COSM4172555 MSH6 c.? p.R243H Substitution - Missense Skin COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4188291 CHD8 c.2090A>T p.K697I Substitution - Missense Kidney COSM5006234 PWWP2B c.1384C>T p.R462C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5062361 HDAC9 c.689G>A p.R230Q Substitution - Missense Stomach COSM4099352 ADNP c.2128C>G p.P710A Substitution - Missense Stomach COSM1339912 ACTA1 c.868G>A p.D290N Substitution - Missense Large_intestine COSM3445299 PRDM10 c.720C>T p.L240L Substitution - coding silent Skin COSM4092290 SP100 c.1972A>C p.S658R Substitution - Missense Stomach COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3424959 ATRX c.3683C>A p.P1228H Substitution - Missense Large_intestine COSM337736 EPC2 c.873A>T p.S291S Substitution - coding silent Lung COSM1348869 SFMBT2 c.2583G>A p.P861P Substitution - coding silent Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3528109 DNMT1 c.1052C>T p.P351L Substitution - Missense Skin COSM724207 ADNP c.1556C>T p.S519L Substitution - Missense Lung COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96430 EP300 c.3591_3728del138 p.Y1198_L1243del Deletion - In frame Breast COSM1388718 SETBP1 c.2802G>T p.K934N Substitution - Missense Large_intestine COSM971414 CHD9 c.1624G>T p.E542* Substitution - Nonsense Endometrium COSM3967350 KMT2A c.10939A>G p.M3647V Substitution - Missense Central_nervous_system COSM1694317 GABRG1 c.123T>A p.D41E Substitution - Missense Skin COSM4702525 MLL5 c.937delA p.E315fs*2 Deletion - Frameshift Large_intestine COSM1288403 TDRD1 c.3175G>T p.G1059* Substitution - Nonsense Autonomic_ganglia COSM1741304 KAT2B c.1198T>A p.S400T Substitution - Missense Urinary_tract COSM4849197 EP300 c.5155C>T p.Q1719* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM352957 DNMT3B c.460G>T p.A154S Substitution - Missense Lung COSM3568251 BAZ2B c.5783C>T p.S1928L Substitution - Missense Skin COSM285940 TRIM33 c.2593C>T p.R865* Substitution - Nonsense Endometrium COSM133135 DNMT3A c.2385G>C p.W795C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5985859 KMT2D c.14725C>A p.R4909S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1700241 EYA1 c.1373C>T p.P458L Substitution - Missense Skin COSM5724125 HDAC7 c.978G>A p.G326G Substitution - coding silent Skin COSM3521206 BPTF c.5314C>T p.Q1772* Substitution - Nonsense Skin COSM4894060 BAZ2A_ENST00000379441 c.2757C>T p.S919S Substitution - coding silent Skin COSM3124660 ZBTB38 c.1733A>G p.Y578C Substitution - Missense Central_nervous_system COSM4803715 NCOA3 c.1505-2A>G p.? Unknown Liver COSM536713 BRDT c.1113G>A p.T371T Substitution - coding silent Stomach COSM349183 SETD1A c.5082G>T p.P1694P Substitution - coding silent Lung COSM4656909 KDM4B c.1241C>T p.P414L Substitution - Missense Large_intestine COSM404467 EP400 c.6466G>C p.A2156P Substitution - Missense Lung COSM4187265 ZMYM2 c.2747T>C p.V916A Substitution - Missense Kidney COSM5978007 RAD54L c.1399T>C p.C467R Substitution - Missense Upper_aerodigestive_tract COSM1258619 MYST3 c.3026C>T p.T1009M Substitution - Missense Oesophagus COSM3937911 MBD3 c.729G>C p.L243L Substitution - coding silent Oesophagus COSM5498830 HDAC4 c.2219-5delC p.? Unknown Biliary_tract COSM4385561 IDH1 c.633_634insA p.N213fs*8 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4666311 BTAF1 c.2120C>T p.A707V Substitution - Missense Large_intestine COSM3501118 MGA c.9133G>A p.V3045I Substitution - Missense Skin COSM3931546 HNF1A c.1375C>T p.L459L Substitution - coding silent Liver COSM231549 DNMT3A c.2309C>T p.S770L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5722618 KAT2A c.265C>T p.Q89* Substitution - Nonsense Skin COSM147595 TDG c.510G>A p.E170E Substitution - coding silent Kidney COSM5046777 EP300 c.3604G>C p.E1202Q Substitution - Missense Oesophagus COSM5996480 BAG6 c.305C>T p.T102M Substitution - Missense Prostate COSM5048545 ARID2 c.580G>C p.E194Q Substitution - Missense Oesophagus COSM4852263 BAHD1 c.252G>A p.R84R Substitution - coding silent Cervix COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1735705 CREBBP c.? p.E1035* Substitution - Nonsense Skin COSM52984 DNMT3A c.? p.R882S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1644335 ARID1A c.5541_5542insG p.D1850fs*4 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1191100 CBX4 c.1167_1168insCAC p.H400_A401insH Insertion - In frame Thyroid COSM5425746 SMYD1 c.795G>A p.Q265Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4730988 SUV420H1 c.1917C>T p.D639D Substitution - coding silent Large_intestine COSM4272870 KDM6B c.2599T>G p.S867A Substitution - Missense Large_intestine COSM1682284 EP300 c.1393G>T p.E465* Substitution - Nonsense Large_intestine COSM52862 PBRM1 c.3471_3472delGC p.W1157fs*23 Deletion - Frameshift Kidney COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4956155 GTF3C1 c.3682A>C p.I1228L Substitution - Missense Liver COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM206743 ASH1L c.7567C>T p.R2523C Substitution - Missense Skin COSM144226 ATRX c.3904_3904delA p.R1302fs*44 Deletion - Frameshift Central_nervous_system COSM4406115 PHF16 c.94A>C p.K32Q Substitution - Missense Skin COSM1106 SMARCB1 c.1-126A>C p.? Unknown Soft_tissue COSM23025 MEN1 c.1654A>T p.T552S Substitution - Missense Adrenal_gland COSM5988500 HNF1A c.1804G>A p.D602N Substitution - Missense Liver COSM3980461 PHRF1 c.912C>T p.L304L Substitution - coding silent Ovary COSM5820637 SETD6 c.1111A>C p.R371R Substitution - coding silent Liver COSM3644824 ATAD2 c.3551C>T p.S1184L Substitution - Missense Skin COSM4163285 PHF19 c.407A>C p.D136A Substitution - Missense Upper_aerodigestive_tract COSM3953223 UHRF2 c.81G>C p.E27D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM256033 DNMT3A c.1628G>C p.G543A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3668821 MBD5 c.3852G>A p.V1284V Substitution - coding silent Liver COSM4072011 INO80C c.135G>A p.A45A Substitution - coding silent Stomach COSM377732 TIF1 c.532G>C p.E178Q Substitution - Missense Lung COSM4016864 HELLS c.2120G>A p.R707K Substitution - Missense Stomach COSM1754937 PHIP c.1607G>C p.G536A Substitution - Missense Urinary_tract COSM1669897 HDAC4 c.500C>T p.A167V Substitution - Missense Large_intestine COSM4959347 GTF3C1 c.4090G>A p.A1364T Substitution - Missense Large_intestine COSM4891091 CREBBP c.7098G>A p.R2366R Substitution - coding silent Upper_aerodigestive_tract COSM927027 PRDM11 c.525C>A p.I175I Substitution - coding silent Endometrium COSM4891331 PRDM9 c.2368A>T p.N790Y Substitution - Missense Upper_aerodigestive_tract COSM3381977 BAZ1B c.460G>T p.G154C Substitution - Missense Pancreas COSM935970 HNF1A c.341G>A p.R114H Substitution - Missense Endometrium COSM1644411 ATF7IP c.1088G>A p.R363Q Substitution - Missense Salivary_gland COSM5620022 KMT2C c.12436G>T p.G4146W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM487506 UHRF2 c.848T>A p.V283E Substitution - Missense Kidney COSM993 SMARCB1 c.601C>T p.R201* Substitution - Nonsense Central_nervous_system COSM4031008 ARID1A c.3142C>T p.P1048S Substitution - Missense Stomach COSM470342 SMEK1 c.101G>A p.R34Q Substitution - Missense Kidney COSM5429487 ARID1B c.2136G>T p.Q712H Substitution - Missense Oesophagus COSM3589915 MECOM c.136A>T p.T46S Substitution - Missense Skin COSM5960880 RING1 c.1158G>C p.E386D Substitution - Missense Breast COSM22616 MEN1 c.660_668del9 p.L221_L223del Deletion - In frame Pancreas COSM4766095 TET2 c.5253_5254insT p.K1752fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4694968 KDM4B c.2573G>A p.R858Q Substitution - Missense Large_intestine COSM206276 KMT2C c.1966G>A p.V656I Substitution - Missense Prostate COSM255134 MEN1 c.? p.Q260* Substitution - Nonsense Parathyroid COSM5039413 CHD7 c.5518G>A p.A1840T Substitution - Missense Liver COSM4118121 DHX30 c.3364G>A p.D1122N Substitution - Missense Stomach COSM3874521 TDRD6 c.1790C>T p.A597V Substitution - Missense Stomach COSM265554 ARID1A c.2277_2278insC p.Q761fs*56 Insertion - Frameshift Large_intestine COSM3033674 MECP2 c.920A>G p.K307R Substitution - Missense Large_intestine COSM1640116 ARID4A c.1259delA p.D423fs*2 Deletion - Frameshift Stomach COSM1180918 ASXL1 c.1927delG p.G645fs*58 Deletion - Frameshift Oesophagus COSM2098426 CHD4 c.3886_3895del10 p.E1296fs*31 Deletion - Frameshift Upper_aerodigestive_tract COSM4000327 CBX4 c.871T>C p.S291P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4396343 PRDM9 c.112G>A p.E38K Substitution - Missense Skin COSM5384869 CREBBP c.6490C>T p.L2164L Substitution - coding silent Skin COSM3656100 EHMT1 c.3741C>T p.A1247A Substitution - coding silent Skin COSM1741219 TET2 c.3748G>T p.E1250* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1479382 PHF12 c.1964C>T p.T655I Substitution - Missense Breast COSM5938523 MSL3 c.346C>T p.L116F Substitution - Missense Skin COSM4074034 SMARCA4 c.2166G>T p.Q722H Substitution - Missense Stomach COSM5474855 PRDM1 c.234A>G p.G78G Substitution - coding silent Large_intestine COSM312110 JHDM1D c.1333A>G p.K445E Substitution - Missense Lung COSM1211250 JARID2 c.1160G>A p.R387H Substitution - Missense Large_intestine COSM107968 CHD6 c.6221C>T p.P2074L Substitution - Missense Skin COSM3808475 KMT2A c.1954C>T p.R652* Substitution - Nonsense Breast COSM3871736 KMT2D c.2172C>T p.P724P Substitution - coding silent Skin COSM4823094 KDM3B c.4707G>A p.V1569V Substitution - coding silent Cervix COSM3619205 PRDM1 c.2015G>A p.G672E Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5994070 BAZ2B c.5551T>C p.F1851L Substitution - Missense Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4884035 SUV39H1 c.464G>T p.G155V Substitution - Missense Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4474832 ASH1L c.1946C>T p.S649F Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3438383 ERCC6 c.2123C>T p.S708F Substitution - Missense Liver COSM5423375 HDAC8 c.76A>C p.S26R Substitution - Missense Prostate COSM53011 EZH2 c.1033G>A p.A345T Substitution - Missense Lung COSM5813954 PYGO1 c.287C>T p.P96L Substitution - Missense Liver COSM3692452 MBD3 c.549C>T p.S183S Substitution - coding silent Biliary_tract COSM4443858 CHD8 c.4384C>T p.R1462* Substitution - Nonsense Large_intestine COSM3604092 GABRG1 c.688C>T p.P230S Substitution - Missense Skin COSM3845318 TAF1 c.5569G>A p.E1857K Substitution - Missense Breast COSM433817 INOC1 c.445delG p.E149fs*74 Deletion - Frameshift Breast COSM1342097 ZMYM6 c.3932C>T p.T1311I Substitution - Missense Large_intestine COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4714045 PHIP c.5255A>G p.E1752G Substitution - Missense Large_intestine COSM5551912 ARID2 c.728A>G p.D243G Substitution - Missense Prostate COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM99740 DNMT3A c.2645G>C p.R882P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM319395 CDYL c.179C>G p.A60G Substitution - Missense Large_intestine COSM1034773 TCF20 c.1847G>A p.R616Q Substitution - Missense Endometrium COSM4779910 BAZ2A_ENST00000379441 c.351G>A p.S117S Substitution - coding silent Liver COSM4007996 SCMH1 c.700C>T p.R234W Substitution - Missense Stomach COSM3304074 KMT2C c.9142C>T p.L3048L Substitution - coding silent Large_intestine COSM4593941 L3MBTL2 c.697G>C p.A233P Substitution - Missense Upper_aerodigestive_tract COSM149089 SP110 c.383C>T p.A128V Substitution - Missense Soft_tissue COSM110784 TET2 c.4757C>A p.S1586* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5072049 TDRD5 c.2593G>A p.E865K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5715603 BRPF3 c.2489C>T p.S830F Substitution - Missense Skin COSM77669 EYA1 c.1290G>T p.W430C Substitution - Missense Ovary COSM231256 RSF1 c.3458C>T p.S1153F Substitution - Missense Skin COSM144705 PHF6 c.? p.T98fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM3296281 EPC2 c.1255T>C p.S419P Substitution - Missense Large_intestine COSM3460341 PRMT8 c.904G>A p.D302N Substitution - Missense Skin COSM3881875 ACTB c.185G>C p.R62T Substitution - Missense Stomach COSM4403595 SFMBT2 c.1348C>T p.P450S Substitution - Missense Skin COSM164844 TDRD6 c.1501G>A p.E501K Substitution - Missense Lung COSM23373 PCGF2 c.663G>A p.G221G Substitution - coding silent Skin COSM457731 SMC1A c.2595G>T p.E865D Substitution - Missense Breast COSM1626427 POGZ c.1927-1G>T p.? Unknown Liver COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM32706 CHD5 c.133G>A p.V45M Substitution - Missense Breast COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Large_intestine COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85837 MEN1 c.159_165delCATCCCT p.I54fs*63 Deletion - Frameshift Pancreas COSM49154 EZH2 c.2068C>T p.R690C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM81220 GLYATL1 c.139A>C p.R47R Substitution - coding silent Ovary COSM96372 BAP1 c.160G>T p.E54* Substitution - Nonsense Pleura COSM127193 SND1 c.2235-2A>C p.? Unknown Upper_aerodigestive_tract COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Upper_aerodigestive_tract COSM147408 APOBEC1 c.534C>T p.Y178Y Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM215959 KDM3B c.5096A>C p.K1699T Substitution - Missense Central_nervous_system COSM243669 CHD3 c.4034A>C p.K1345T Substitution - Missense Prostate COSM270148 SIRT5 c.358G>A p.A120T Substitution - Missense Large_intestine COSM282784 MGA c.4230G>T p.E1410D Substitution - Missense Large_intestine COSM275434 HDAC9 c.1988G>A p.R663Q Substitution - Missense Skin COSM306817 BPTF c.2034_2041ATTATTTA>12 p.K678fs Complex Central_nervous_system COSM318941 BRD4 c.1259C>A p.A420D Substitution - Missense Lung COSM318103 TDRD6 c.2450A>C p.Q817P Substitution - Missense Soft_tissue COSM339889 KMT2C c.12413A>T p.Y4138F Substitution - Missense Lung COSM379334 WHSC1 c.3295G>A p.E1099K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM395733 SUV420H2 c.881G>C p.R294P Substitution - Missense Lung COSM404454 TAF1 c.3064C>T p.R1022C Substitution - Missense Lung COSM430522 HNF1A c.79A>C p.I27L Substitution - Missense Large_intestine COSM461618 HDAC9 c.2093C>T p.S698F Substitution - Missense Cervix COSM476241 ATF2 c.888A>G p.K296K Substitution - coding silent Kidney COSM693061 ATF7IP c.2626C>T p.P876S Substitution - Missense Lung COSM940050 KMT2D c.5798C>A p.T1933K Substitution - Missense Endometrium COSM972475 CTCF c.592C>T p.Q198* Substitution - Nonsense Endometrium COSM744658 SND1 c.360G>T p.G120G Substitution - coding silent Lung COSM703443 FTO c.1193A>T p.Q398L Substitution - Missense Lung COSM698267 ARID4A c.1459G>T p.E487* Substitution - Nonsense Lung COSM697534 CHD8 c.2606C>T p.S869F Substitution - Missense Lung COSM730717 SETD2 c.3757G>T p.E1253* Substitution - Nonsense Lung COSM910299 RAD54L c.1739T>C p.L580P Substitution - Missense Endometrium COSM907714 ARID1A c.3712_3715+36del40 p.? Unknown Endometrium COSM999796 KDM4B c.1296G>A p.R432R Substitution - coding silent Endometrium COSM1602045 SMYD3 c.510C>A p.I170I Substitution - coding silent Liver COSM1602140 ARID1A c.1351-2A>G p.? Unknown Liver COSM1043486 ZCWPW2 c.395G>A p.G132E Substitution - Missense Endometrium COSM1122956 KDM5C c.1771G>A p.G591R Substitution - Missense Endometrium COSM1137064 PBRM1 c.4387C>T p.Q1463* Substitution - Nonsense Kidney COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1249366 CTCF c.19G>A p.E7K Substitution - Missense Stomach COSM1254012 HDAC9 c.1882C>T p.R628C Substitution - Missense Oesophagus COSM1162748 BRD9 c.928A>T p.M310L Substitution - Missense Large_intestine COSM1205906 EZH2 c.898T>C p.C300R Substitution - Missense Large_intestine COSM1267544 TCF19 c.696G>A p.A232A Substitution - coding silent Stomach COSM1180098 KMT2C c.1005T>A p.P335P Substitution - coding silent Soft_tissue COSM1225329 SETBP1 c.2585A>C p.E862A Substitution - Missense Large_intestine COSM1193398 RERE c.4421C>G p.T1474S Substitution - Missense Lung COSM1290639 NCOR1 c.2182+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1286984 PBRM1 c.1088-8_1089delCTTTCCAGCT p.? Unknown Autonomic_ganglia COSM1283673 BPTF c.678C>G p.P226P Substitution - coding silent Autonomic_ganglia COSM1319913 ASH1L c.7113A>G p.Q2371Q Substitution - coding silent Ovary COSM1318931 DNMT3A c.1845delG p.E616fs*35 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1387351 CHD3 c.1612delC p.R540fs*16 Deletion - Frameshift Biliary_tract COSM1423574 SETD2 c.1439A>G p.E480G Substitution - Missense Liver COSM1411846 CHD6 c.1383C>T p.L461L Substitution - coding silent Large_intestine COSM1462006 TAF1L c.2772G>T p.E924D Substitution - Missense Large_intestine COSM1359479 KDM2B c.1639G>A p.D547N Substitution - Missense Large_intestine COSM1355794 MEN1 c.1546delC p.R516fs*43 Deletion - Frameshift Liver COSM1583132 DNMT3A c.2612C>T p.P871L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1622432 JHDM1D c.2437A>G p.T813A Substitution - Missense Liver COSM1628606 ARID2 c.1120G>C p.G374R Substitution - Missense Skin COSM1686541 TRRAP c.8423+2T>A p.? Unknown Skin COSM1644888 PHC2 c.1474C>T p.H492Y Substitution - Missense Salivary_gland COSM1711241 SETBP1 c.3227C>T p.S1076L Substitution - Missense Stomach COSM1714506 BRD1 c.1258G>C p.V420L Substitution - Missense Skin COSM1717236 SP110 c.32C>G p.A11G Substitution - Missense Ovary COSM1717367 SETBP1 c.2572G>A p.E858K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1730646 SP110 c.772G>T p.E258* Substitution - Nonsense Liver COSM1741515 UTY c.3238C>T p.Q1080* Substitution - Nonsense Urinary_tract COSM1741981 MGA c.5003C>G p.S1668C Substitution - Missense Urinary_tract COSM1749562 SRCAP c.3851C>T p.P1284L Substitution - Missense Urinary_tract COSM2051950 SMYD3 c.510C>T p.I170I Substitution - coding silent Breast COSM2080047 ZMYM6 c.608G>A p.R203Q Substitution - Missense Stomach COSM2151782 MGMT c.152C>T p.A51V Substitution - Missense Central_nervous_system COSM2098821 ING4 c.117G>A p.K39K Substitution - coding silent Large_intestine COSM2812121 SETBP1 c.3565C>A p.R1189R Substitution - coding silent Large_intestine COSM2820627 AIRE c.891C>T p.D297D Substitution - coding silent Prostate COSM2833296 GLYR1 c.1433C>T p.A478V Substitution - Missense Large_intestine COSM2874502 PRDM14 c.1626_1628delGGA p.E542delE Deletion - In frame Large_intestine COSM3508236 GTF3C1 c.606C>T p.F202F Substitution - coding silent Skin COSM3636547 KMT2C c.979T>C p.C327R Substitution - Missense Skin COSM3631655 MLL5 c.2855C>T p.S952F Substitution - Missense Skin COSM3578909 SP140_ENST00000392045 c.1895G>A p.G632E Substitution - Missense Skin COSM3596275 SFMBT1 c.2204A>G p.K735R Substitution - Missense Skin COSM3547332 EYA2 c.524C>T p.P175L Substitution - Missense Liver COSM3555665 HDAC10 c.1324G>A p.E442K Substitution - Missense Bone COSM3568269 BAZ2B c.1765G>A p.E589K Substitution - Missense Skin COSM3568270 BAZ2B c.1595C>T p.S532F Substitution - Missense Skin COSM3560206 SCML2 c.1669C>T p.P557S Substitution - Missense Skin COSM3563529 ATRX c.1001C>T p.S334F Substitution - Missense Skin COSM3664209 BRD3 c.599C>T p.P200L Substitution - Missense Liver COSM3705428 RBBP5 c.914C>G p.P305R Substitution - Missense Liver COSM3777714 TDRD6 c.5012G>A p.R1671K Substitution - Missense Urinary_tract COSM3809984 MEN1 c.324A>T p.R108R Substitution - coding silent Breast COSM3858492 SIRT5 c.536C>A p.P179Q Substitution - Missense Stomach COSM3841282 ADNP c.976C>A p.H326N Substitution - Missense Breast COSM3821888 CARM1 c.608C>T p.A203V Substitution - Missense Breast COSM3847521 PHF19 c.560C>G p.S187W Substitution - Missense Breast COSM3973668 KDM6A c.3607G>A p.A1203T Substitution - Missense Central_nervous_system COSM3982765 BRD3 c.723C>T p.G241G Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4015118 JMJD1C c.3033A>G p.P1011P Substitution - coding silent Stomach COSM4031028 ARID1A c.6773T>G p.L2258R Substitution - Missense Stomach COSM4015206 SIRT1 c.1319G>A p.G440E Substitution - Missense Stomach COSM4006667 KMT2C c.3340T>C p.C1114R Substitution - Missense Thyroid COSM4043652 BAZ2A c.5768G>A p.R1923H Substitution - Missense Stomach COSM4044355 CHD4 c.1706T>C p.V569A Substitution - Missense Stomach COSM4053101 UBR7 c.942T>C p.C314C Substitution - coding silent Stomach COSM3985965 KMT2A c.7316A>C p.E2439A Substitution - Missense Kidney COSM3996577 KIAA2026_ENST00000399933 c.3610A>C p.S1204R Substitution - Missense Kidney COSM3988790 NCOR1 c.161C>G p.S54* Substitution - Nonsense Kidney COSM4111160 ATRX c.1033G>A p.A345T Substitution - Missense Biliary_tract COSM4110206 PHF8 c.2727A>T p.Q909H Substitution - Missense Stomach COSM4110256 PHF8 c.445C>T p.H149Y Substitution - Missense Stomach COSM4101927 AIRE c.1367G>A p.R456H Substitution - Missense Stomach COSM4124023 WHSC1 c.3995C>T p.S1332L Substitution - Missense Cervix COSM4076236 DOT1L c.1602C>T p.S534S Substitution - coding silent Stomach COSM4139922 CHD3 c.101-9G>A p.? Unknown Ovary COSM4145728 PHF21A c.975C>A p.S325R Substitution - Missense Upper_aerodigestive_tract COSM4145963 PHRF1 c.4343T>C p.V1448A Substitution - Missense Thyroid COSM4154973 KDM5C c.1787C>G p.T596S Substitution - Missense Kidney COSM4383839 TET2 c.2272C>T p.Q758* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4409188 SUV420H2 c.43G>A p.D15N Substitution - Missense Oesophagus COSM4445233 CHD8 c.7486C>A p.H2496N Substitution - Missense Large_intestine COSM4551632 SMYD3 c.357G>A p.V119V Substitution - coding silent Skin COSM4578266 TP53BP1 c.2919G>T p.G973G Substitution - coding silent Bone COSM4526730 ATF7IP c.1414G>T p.E472* Substitution - Nonsense Skin COSM4478257 TDRD7 c.2222C>T p.T741I Substitution - Missense Skin COSM4694859 KDM1A c.2531G>A p.R844Q Substitution - Missense Large_intestine COSM4728326 SMARCC2 c.3567A>C p.P1189P Substitution - coding silent Large_intestine COSM4742143 ZBTB38 c.1214A>G p.N405S Substitution - Missense Large_intestine COSM4649415 PHF16 c.2450C>T p.S817F Substitution - Missense Large_intestine COSM4611655 HDAC2 c.33delA p.V12fs*20 Deletion - Frameshift Large_intestine COSM4652657 IDH2 c.1086G>A p.R362R Substitution - coding silent Large_intestine COSM4801578 ZMYND11 c.518A>G p.Y173C Substitution - Missense Soft_tissue COSM4788085 CREBBP c.4414T>A p.W1472R Substitution - Missense Liver COSM4941468 MYST3 c.1538A>G p.E513G Substitution - Missense Liver COSM4937515 TCF20 c.3223C>G p.P1075A Substitution - Missense Liver COSM4938146 BPTF c.2960A>G p.D987G Substitution - Missense Liver COSM4932077 SMARCA4 c.1327A>C p.K443Q Substitution - Missense Liver COSM4876361 MTA1 c.2047C>T p.R683W Substitution - Missense Prostate COSM4835759 SIRT4 c.555C>G p.F185L Substitution - Missense Cervix COSM4952670 KMT2D c.2270A>G p.H757R Substitution - Missense Liver COSM4953556 ZMYM2 c.3568+1G>C p.? Unknown Liver COSM4990226 ARID2 c.1562A>C p.E521A Substitution - Missense Skin COSM5030690 SMYD5 c.840_845delGGAAGA p.E286_E287delEE Deletion - In frame Bone COSM5022492 SP140_ENST00000392045 c.223G>T p.E75* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5060119 PHF17 c.412G>A p.V138M Substitution - Missense Stomach COSM5062316 KMT2C c.11413A>G p.T3805A Substitution - Missense Stomach COSM5226336 TP53BP1 c.5388_5389insT p.N1797fs*1 Insertion - Frameshift Breast COSM5347129 ARID1A c.1762C>T p.Q588* Substitution - Nonsense Skin COSM5377480 PRDM2 c.4641C>T p.P1547P Substitution - coding silent Skin COSM5388204 MBD1 c.850C>T p.P284S Substitution - Missense Skin COSM5382060 CHD8 c.1690C>T p.R564* Substitution - Nonsense Skin COSM5371304 BTAF1 c.5516A>G p.Y1839C Substitution - Missense Skin COSM5360684 KAT5 c.1535A>G p.D512G Substitution - Missense Large_intestine COSM5459454 PHF2 c.574G>A p.V192I Substitution - Missense Large_intestine COSM5574424 BAZ2A_ENST00000379441 c.2317_2318delAA p.K773fs*23 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5576002 CREBBP c.712G>A p.V238M Substitution - Missense Stomach COSM5720696 PHF3 c.776C>T p.S259L Substitution - Missense Skin COSM5722704 CBX8 c.433G>A p.E145K Substitution - Missense Skin COSM5736120 SMYD1 c.1457T>C p.F486S Substitution - Missense Small_intestine COSM5725343 ATXN7 c.1718T>C p.I573T Substitution - Missense Skin COSM5731539 ZMYM4 c.2499G>A p.G833G Substitution - coding silent Central_nervous_system COSM5680136 SMYD1 c.1282G>A p.G428R Substitution - Missense Soft_tissue COSM5715252 CBX2 c.1522G>A p.V508I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5751032 CARM1 c.1240C>T p.H414Y Substitution - Missense Stomach COSM5762572 ATRX c.4215-1G>A p.? Unknown Pancreas COSM5570901 CHD8 c.6135A>G p.V2045V Substitution - coding silent Prostate COSM5784259 CHD8 c.5305G>C p.A1769P Substitution - Missense Breast COSM5790264 MECOM c.106C>A p.L36I Substitution - Missense Breast COSM5808671 POGZ c.3642G>C p.Q1214H Substitution - Missense Liver COSM5950663 BAZ1B c.2084G>T p.C695F Substitution - Missense Prostate COSM5944945 DNMT3A c.1910T>A p.L637Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5887014 SETBP1 c.3436C>T p.R1146W Substitution - Missense Skin COSM5916187 CHD4 c.4661C>T p.P1554L Substitution - Missense Skin COSM5930765 TDRD5 c.2011G>A p.E671K Substitution - Missense Skin COSM5947762 HCFC1 c.5393G>T p.C1798F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5986707 KMT2C c.14047_14073del27 p.A4683_Y4691delACENYTFRY Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM5993875 SMYD1 c.844A>C p.K282Q Substitution - Missense Prostate COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM5880301 ATRX c.? p.R2197L Substitution - Missense Central_nervous_system COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716177 EZH2 c.? p.Y646H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1698743 BAZ1B c.1046C>T p.S349L Substitution - Missense Skin COSM3737110 ATRX c.485-6delT p.? Unknown Soft_tissue COSM4383954 TET2 c.4767delT p.Y1589fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1714991 SMC1A c.3268C>T p.R1090C Substitution - Missense Skin COSM215757 MBD3 c.688G>T p.E230* Substitution - Nonsense Central_nervous_system COSM22638 MEN1 c.124G>A p.G42S Substitution - Missense Parathyroid COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM5897373 KDM3A c.2923-1G>C p.? Unknown Skin COSM1076154 PHF10 c.752C>A p.S251Y Substitution - Missense Endometrium COSM4590139 KAT2A c.1586A>C p.H529P Substitution - Missense Upper_aerodigestive_tract COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM4144744 ERCC6 c.2546A>G p.K849R Substitution - Missense Thyroid COSM1677940 BAZ1A c.3371C>A p.A1124D Substitution - Missense Large_intestine COSM1749646 FTO c.1057G>A p.D353N Substitution - Missense Urinary_tract COSM4506495 CBX6 c.721C>T p.P241S Substitution - Missense Skin COSM1627818 KMT2A c.7752A>G p.Q2584Q Substitution - coding silent Liver COSM2230114 PRDM2 c.2508T>C p.G836G Substitution - coding silent Large_intestine COSM4383879 TET2 c.2950G>T p.E984* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4845249 SMARCC2 c.1100C>G p.S367* Substitution - Nonsense Cervix COSM2160708 SFMBT2 c.933G>A p.M311I Substitution - Missense Large_intestine COSM4384320 KMT2C c.9530G>A p.R3177H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4770735 SETDB1 c.2020delA p.K674fs*73 Deletion - Frameshift Pleura COSM3353106 TDRD6 c.4101T>A p.N1367K Substitution - Missense Large_intestine COSM4170443 KMT2D c.3616C>T p.Q1206* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM426004 ARID1A c.1582C>T p.Q528* Substitution - Nonsense Breast COSM4155175 EHMT2 c.2246A>G p.E749G Substitution - Missense Kidney COSM4491038 DIDO1 c.3733C>T p.P1245S Substitution - Missense Skin COSM2270752 MGA c.308G>A p.R103H Substitution - Missense Stomach COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM4728263 SMARCA1 c.2958A>G p.E986E Substitution - coding silent Large_intestine COSM166838 TET2 c.5666C>T p.P1889L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3555264 PHF21B c.1245C>T p.I415I Substitution - coding silent Skin COSM3738489 TET2 c.? p.E576fs*4 Frameshift Haematopoietic_and_lymphoid_tissue COSM1179107 KMT2C c.851G>A p.R284Q Substitution - Missense Upper_aerodigestive_tract COSM5985487 KDM5C c.1711A>G p.M571V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3760916 PHF15 c.1103G>T p.G368V Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM754371 KDM4C c.2083G>T p.E695* Substitution - Nonsense Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM2081888 MEAF6 c.276C>A p.S92S Substitution - coding silent Large_intestine COSM3670287 ZMYM3 c.1648C>T p.R550C Substitution - Missense Central_nervous_system COSM6007874 BAZ2A c.5779G>A p.E1927K Substitution - Missense Prostate COSM3891036 SETBP1 c.551G>A p.R184K Substitution - Missense Skin COSM4070659 BAHCC1 c.7516A>G p.I2506V Substitution - Missense Stomach COSM1754443 HDAC2 c.588G>A p.T196T Substitution - coding silent Urinary_tract COSM3735713 PHF3 c.4114C>T p.P1372S Substitution - Missense Skin COSM423138 PBRM1 c.3810delA p.K1270fs*5 Deletion - Frameshift Kidney COSM224176 GATAD2B c.938C>T p.S313F Substitution - Missense Skin COSM5577519 KAT6B c.265C>T p.P89S Substitution - Missense Skin COSM5626344 SFMBT2 c.2485G>A p.V829M Substitution - Missense Oesophagus COSM3755699 AKAP1 c.967G>A p.G323S Substitution - Missense Large_intestine COSM221008 KMT2D c.11418G>T p.L3806L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Biliary_tract COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1317431 KAT6B c.1800C>G p.H600Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5384982 CHD9 c.1824G>A p.K608K Substitution - coding silent Skin COSM41292 IDH1 c.? p.R132G Substitution - Missense Bone COSM4956709 KMT2D c.14589T>G p.C4863W Substitution - Missense Liver COSM4833426 SIRT4 c.693C>G p.V231V Substitution - coding silent Cervix COSM487127 PRDM12 c.368C>T p.A123V Substitution - Missense Kidney COSM87001 DNMT3A c.2644C>A p.R882S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41685 TET2 c.5738G>A p.G1913D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4591233 NCOR1 c.534G>C p.K178N Substitution - Missense Upper_aerodigestive_tract COSM4652461 CHD8 c.3478C>T p.R1160C Substitution - Missense Large_intestine COSM1717480 TET2 c.3671_3671delC p.A1224fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1471419 DNMT3L c.344G>A p.R115Q Substitution - Missense Prostate COSM1684078 TDRD6 c.2114_2116delAAG p.E705delE Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM4849851 KMT2D c.3208G>A p.D1070N Substitution - Missense Cervix COSM4669572 CBX6 c.1075C>T p.R359C Substitution - Missense Large_intestine COSM1041416 TBL1XR1 c.646C>T p.R216* Substitution - Nonsense Endometrium COSM4527765 PRDM9 c.1489G>A p.E497K Substitution - Missense Skin COSM3816840 MORF4L1 c.447G>A p.T149T Substitution - coding silent Breast COSM3488875 ZMYM1 c.2561C>T p.S854F Substitution - Missense Skin COSM4789921 KMT2D c.4450C>A p.Q1484K Substitution - Missense Liver COSM1071087 BRD9 c.54C>T p.A18A Substitution - coding silent Endometrium COSM3510038 BRD7 c.869C>T p.P290L Substitution - Missense Skin COSM5808474 MTA1 c.178G>T p.D60Y Substitution - Missense Liver COSM293555 MSH6 c.3991C>T p.R1331* Substitution - Nonsense Large_intestine COSM1740754 TCF20 c.4670C>T p.P1557L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4803661 IDH2 c.467A>G p.N156S Substitution - Missense Liver COSM4976363 BAP1 c.1730-1G>A p.? Unknown Oesophagus COSM4646094 BAP1 c.527T>C p.I176T Substitution - Missense Large_intestine COSM3911156 NCOA6 c.1120C>T p.P374S Substitution - Missense Skin COSM5788623 BRPF3 c.3213C>A p.R1071R Substitution - coding silent Breast COSM3940128 BRWD3 c.4382G>T p.S1461I Substitution - Missense Oesophagus COSM732048 TET2 c.223A>T p.S75C Substitution - Missense Lung COSM3615224 PRDM9 c.2483G>A p.G828E Substitution - Missense Skin COSM1373022 TP53BP1 c.3219G>T p.E1073D Substitution - Missense Large_intestine COSM308044 HDAC2 c.232C>T p.R78W Substitution - Missense Bone COSM2931100 DIDO1 c.5018C>T p.P1673L Substitution - Missense Large_intestine COSM932750 TRIM66 c.2798C>A p.S933Y Substitution - Missense Endometrium COSM5509604 ZBTB4 c.10_11insC p.A5fs*18 Insertion - Frameshift Biliary_tract COSM4168946 BAZ2A_ENST00000379441 c.4267C>G p.L1423V Substitution - Missense Liver COSM5910911 CHD3 c.3479C>T p.P1160L Substitution - Missense Skin COSM3426487 MSH6 c.1290G>A p.G430G Substitution - coding silent Large_intestine COSM5563240 MGA c.3862C>T p.Q1288* Substitution - Nonsense Prostate COSM118307 KDM6B c.3828C>T p.T1276T Substitution - coding silent Ovary COSM4730980 SUV39H2 c.384C>T p.T128T Substitution - coding silent Large_intestine COSM1472314 ZMYM3 c.3886_3887CC>AG p.P1296S Substitution - Missense Prostate COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1660113 UHRF1 c.992G>A p.C331Y Substitution - Missense Kidney COSM272992 KAT6B c.5789C>T p.A1930V Substitution - Missense Large_intestine COSM1196472 CHD6 c.7213G>C p.E2405Q Substitution - Missense Lung COSM4666138 BRDT c.199T>C p.Y67H Substitution - Missense Large_intestine COSM3696126 DHX30 c.3518C>T p.A1173V Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5716801 L3MBTL3 c.1750C>T p.P584S Substitution - Missense Skin COSM2828764 SETD5_ENST00000402198 c.1020C>T p.A340A Substitution - coding silent Upper_aerodigestive_tract COSM459260 ZMYM4 c.169C>T p.P57S Substitution - Missense Cervix COSM1132090 BRD9 c.121C>T p.P41S Substitution - Missense Prostate COSM3498276 ALKBH1 c.105C>A p.P35P Substitution - coding silent Skin COSM237743 KMT2C c.8739A>T p.G2913G Substitution - coding silent Prostate COSM1158367 PRMT3 c.571C>T p.Q191* Substitution - Nonsense Pancreas COSM5715228 EP400 c.6791G>A p.G2264D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM972505 CTCF c.1837+1G>C p.? Unknown Endometrium COSM1736745 ATRX c.332A>G p.N111S Substitution - Missense Central_nervous_system COSM2080389 ZMYM4 c.4489C>T p.R1497C Substitution - Missense Upper_aerodigestive_tract COSM5985727 POGZ c.199A>G p.T67A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2161499 SFMBT2 c.296C>T p.T99M Substitution - Missense Stomach COSM423032 BAP1 c.971delC p.P324fs*11 Deletion - Frameshift Kidney COSM987909 ASXL3 c.1294A>G p.T432A Substitution - Missense Endometrium COSM5447255 BAHCC1 c.4317-9G>A p.? Unknown Large_intestine COSM301574 KDM2B c.1273_1274CC>AG p.P425>? Complex Large_intestine COSM5946084 KDM6A c.?_?del? p.? Unknown Urinary_tract COSM166619 KAT2B c.1368G>A p.E456E Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1731942 KMT2D c.10413_10414insGCA p.Q3471_Q3472insA Insertion - In frame Haematopoietic_and_lymphoid_tissue COSM3867354 ERCC6 c.1789C>T p.L597L Substitution - coding silent Skin COSM53043 IDH1 c.297A>G p.I99M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1311412 CHD1 c.3074C>G p.S1025* Substitution - Nonsense Urinary_tract COSM136636 TIF1 c.574C>T p.Q192* Substitution - Nonsense Skin COSM3642818 TRRAP c.8204C>T p.S2735F Substitution - Missense Skin COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3424983 BRWD3 c.637C>T p.R213C Substitution - Missense Stomach COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5108723 SMARCC2 c.3346C>A p.L1116M Substitution - Missense Large_intestine COSM5925390 TRRAP c.3136A>G p.I1046V Substitution - Missense Skin COSM3848631 KIAA2026_ENST00000399933 c.4346A>C p.Y1449S Substitution - Missense Breast COSM1324489 SETD1A c.3199G>T p.E1067* Substitution - Nonsense Ovary COSM166446 ASXL1 c.4243C>T p.R1415* Substitution - Nonsense Large_intestine COSM1050494 PRDM5 c.1811G>A p.C604Y Substitution - Missense Endometrium COSM308442 BAP1 c.870delC p.N290fs*45 Deletion - Frameshift Kidney COSM478399 ZGPAT c.1297G>C p.G433R Substitution - Missense Kidney COSM1099963 MYST3 c.824C>T p.A275V Substitution - Missense Large_intestine COSM3389887 DIDO1 c.6486G>A p.E2162E Substitution - coding silent Pancreas COSM3853946 NSD1 c.768C>T p.A256A Substitution - coding silent Stomach COSM1224798 SCMH1 c.1516C>T p.R506* Substitution - Nonsense Large_intestine COSM4464762 SMARCA4 c.1350C>T p.A450A Substitution - coding silent Skin COSM4693829 JMJD1C c.5603T>C p.M1868T Substitution - Missense Large_intestine COSM5985952 SETD1A c.3032G>C p.S1011T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM677847 TDRD5 c.193C>A p.R65S Substitution - Missense Lung COSM217448 SMARCA2 c.545delT p.R183fs*5 Deletion - Frameshift Liver COSM308290 KMT2C c.12993G>C p.L4331L Substitution - coding silent Biliary_tract COSM895853 POGZ c.222_223insAGC p.S74_G75insS Insertion - In frame Endometrium COSM3719373 ASXL1 c.2141delC p.R715fs*10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5431416 GABRG1 c.127G>T p.D43Y Substitution - Missense Oesophagus COSM5990068 TET2 c.4287delT p.F1429fs*19 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1412148 NCOA5 c.1546C>T p.L516L Substitution - coding silent Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1019237 DNMT3A c.1139C>T p.A380V Substitution - Missense Endometrium COSM1429844 GABRG1 c.109G>T p.D37Y Substitution - Missense Large_intestine COSM438516 SMARCA4 c.538C>T p.L180F Substitution - Missense Breast COSM5430017 CHD6 c.7203G>A p.L2401L Substitution - coding silent Oesophagus COSM3642776 TRRAP c.4513C>T p.L1505L Substitution - coding silent Skin COSM471947 CTCF c.1444C>A p.L482I Substitution - Missense Kidney COSM5879954 KDM6A c.4120_4130del11 p.L1375fs*10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM53009 EZH2 c.2079T>A p.N693K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1755585 CHRAC1 c.226G>A p.D76N Substitution - Missense Urinary_tract COSM1482708 IDH1 c.264G>A p.L88L Substitution - coding silent Breast COSM1232742 WHSC1 c.4017G>T p.E1339D Substitution - Missense Large_intestine COSM5046522 RSF1 c.313G>A p.E105K Substitution - Missense Oesophagus COSM5390281 UHRF1 c.2246C>T p.T749I Substitution - Missense Skin COSM3836959 EPC2 c.1743G>A p.E581E Substitution - coding silent Breast COSM5065509 ATAT1 c.798_799insC p.R269fs*43 Insertion - Frameshift Large_intestine COSM3668830 BAZ2B c.1334A>G p.Q445R Substitution - Missense Liver COSM5753308 L3MBTL2 c.117T>A p.S39R Substitution - Missense Pancreas COSM4949666 KMT2C c.2815T>G p.S939A Substitution - Missense Liver COSM255889 KDM6A c.3725G>T p.G1242V Substitution - Missense Central_nervous_system COSM3696197 PBRM1 c.1700A>T p.D567V Substitution - Missense Large_intestine COSM1107876 SMARCA2 c.4118C>G p.A1373G Substitution - Missense Endometrium COSM1026315 PHF20 c.2644C>T p.R882C Substitution - Missense Endometrium COSM30365 KMT2D c.9236T>C p.M3079T Substitution - Missense Kidney COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM5977521 SMC1A c.3247G>A p.E1083K Substitution - Missense Upper_aerodigestive_tract COSM358393 TAF3 c.562G>T p.E188* Substitution - Nonsense Lung COSM4387695 EP400 c.9070A>T p.I3024F Substitution - Missense Pancreas COSM329525 PHF21B c.187G>A p.G63R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM674238 TRIM33 c.1364G>C p.G455A Substitution - Missense Lung COSM913237 BRDT c.1384G>T p.E462* Substitution - Nonsense Endometrium COSM1457696 CHD7 c.1947delA p.D652fs*59 Deletion - Frameshift Large_intestine COSM1257725 MINA c.406C>T p.Q136* Substitution - Nonsense Stomach COSM4444025 NCOA3 c.2047C>T p.R683W Substitution - Missense Large_intestine COSM1193386 KIAA2026_ENST00000399933 c.1928A>G p.H643R Substitution - Missense Lung COSM3758010 SP110 c.1568T>C p.M523T Substitution - Missense Large_intestine COSM2157434 BRD8 c.3464G>A p.R1155K Substitution - Missense Central_nervous_system COSM1368706 MTA1 c.1972T>C p.F658L Substitution - Missense Large_intestine COSM4556667 DNMT3B c.33G>A p.E11E Substitution - coding silent Skin COSM4464283 SETBP1 c.1326C>T p.T442T Substitution - coding silent Skin COSM1234985 RBBP4 c.988G>A p.E330K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4592007 RAI1 c.841_843delCAG p.Q291delQ Deletion - In frame Upper_aerodigestive_tract COSM3440610 KAT6B c.2682C>T p.L894L Substitution - coding silent Skin COSM1188440 ATF7IP c.2119G>T p.E707* Substitution - Nonsense Lung COSM1456879 ASH2L c.1461A>T p.G487G Substitution - coding silent Large_intestine COSM4817852 PHF12 c.1806G>A p.V602V Substitution - coding silent Cervix COSM87148 TET2 c.4044+2_4044+3insT p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4595938 BAHCC1 c.1885G>A p.E629K Substitution - Missense Upper_aerodigestive_tract COSM3735030 SMARCA4 c.2275-1G>T p.? Unknown Ovary COSM3843791 FMR1 c.283G>A p.E95K Substitution - Missense Breast COSM3965561 BRWD3 c.2400G>T p.R800R Substitution - coding silent Lung COSM268501 KMT2D c.6522C>T p.F2174F Substitution - coding silent Skin COSM4781632 SMARCA4 c.3484G>A p.G1162S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3786224 MTA1 c.908A>G p.Y303C Substitution - Missense Pancreas COSM1640495 GLYR1 c.507G>C p.R169R Substitution - coding silent Stomach COSM3608972 KDM3B c.1426C>T p.L476F Substitution - Missense Skin COSM3642784 TRRAP c.5009C>T p.T1670I Substitution - Missense Skin COSM4590784 ATF7IP c.2647C>A p.Q883K Substitution - Missense Upper_aerodigestive_tract COSM5951082 SMYD1 c.1314+2C>T p.? Unknown Oesophagus COSM4603624 ATRX c.4053_4053delA p.E1351fs*24 Deletion - Frameshift Central_nervous_system COSM4567986 KMT2D c.8741_8742CC>TT p.S2914F Substitution - Missense Skin COSM1464309 TDRD7 c.1399G>A p.V467I Substitution - Missense Large_intestine COSM3965262 KDM6A c.3769G>A p.E1257K Substitution - Missense Lung COSM1161347 SP140 c.406+2T>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3415382 HELLS c.1532G>A p.R511Q Substitution - Missense Large_intestine COSM3714618 BRPF1 c.3096C>A p.G1032G Substitution - coding silent Upper_aerodigestive_tract COSM282692 MBD1 c.1367T>G p.L456R Substitution - Missense Lung COSM3537378 KDM4B c.1956G>A p.L652L Substitution - coding silent Skin COSM4007323 ZMYM6 c.3890A>G p.K1297R Substitution - Missense Stomach COSM1161850 WHSC1 c.581G>T p.S194I Substitution - Missense Kidney COSM4172349 TET2 c.5235_5239delCAATC p.N1746fs*5 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM462410 EHMT1 c.1689C>G p.F563L Substitution - Missense Cervix COSM3656877 TAF1L c.578C>T p.S193F Substitution - Missense Skin COSM742194 BRPF3 c.2081G>A p.R694Q Substitution - Missense Lung COSM1066221 NSD1 c.2007C>T p.F669F Substitution - coding silent Endometrium COSM5600455 SETD2 c.3866G>A p.S1289N Substitution - Missense Skin COSM3427677 DHX30 c.1591G>A p.A531T Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2246008 ARID4A c.1544A>T p.N515I Substitution - Missense Large_intestine COSM13389 MSH6 c.593A>C p.E198A Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5924169 ACTA1 c.990G>A p.K330K Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4653733 ATXN7 c.1224G>A p.P408P Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4099349 ADNP c.2716G>A p.D906N Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1303703 ASXL3 c.305C>G p.S102C Substitution - Missense Urinary_tract COSM3415684 PRDM10 c.23C>T p.S8L Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2139537 ALKBH1 c.426T>C p.D142D Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5991641 CREBBP c.? p.K1086* Substitution - Nonsense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM247266 SETD5_ENST00000402198 c.1204T>G p.C402G Substitution - Missense Prostate COSM3814233 YY1 c.869A>G p.D290G Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4425067 ARID1B c.5169C>T p.D1723D Substitution - coding silent Oesophagus COSM85623 EP300 c.4461_4462insT p.K1488fs*1 Insertion - Frameshift Pancreas COSM3901394 EYA1 c.17T>C p.L6P Substitution - Missense Stomach COSM4713928 PHF14 c.1523_1524insA p.N510fs*10 Insertion - Frameshift Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3925249 WHSC1L1 c.1077C>T p.P359P Substitution - coding silent Skin COSM51432 ARID1A c.6472C>T p.R2158* Substitution - Nonsense Endometrium COSM4880346 BRWD3 c.2232-5A>G p.? Unknown Prostate COSM2134964 ZMYND11 c.1557G>A p.K519K Substitution - coding silent Oesophagus COSM4970465 KMT2D c.5694C>T p.P1898P Substitution - coding silent Central_nervous_system COSM4661145 ALKBH3 c.284G>T p.G95V Substitution - Missense Large_intestine COSM1228052 SUZ12 c.767G>A p.R256H Substitution - Missense Large_intestine COSM3672515 AKAP1 c.1601C>A p.P534Q Substitution - Missense Prostate COSM3994529 CHD1 c.4490A>G p.Y1497C Substitution - Missense Kidney COSM46456 TET2 c.1669C>T p.Q557* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5675715 ASXL1 c.1942G>T p.G648C Substitution - Missense Soft_tissue COSM4789643 CHD7 c.947G>T p.S316I Substitution - Missense Liver COSM99740 DNMT3A c.2645G>C p.R882P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1378192 BRD7 c.591+1G>A p.? Unknown Large_intestine COSM4390532 MUM1 c.1751A>G p.K584R Substitution - Missense Urinary_tract COSM5038592 CHD3 c.1556A>G p.E519G Substitution - Missense Skin COSM402663 KDM3B c.350_351GG>AT p.W117Y Substitution - Missense Lung COSM3376498 ZMYM2 c.1706G>A p.S569N Substitution - Missense Pancreas COSM740714 SHPRH c.1972C>A p.R658S Substitution - Missense Lung COSM4950585 CHD7 c.5638G>T p.E1880* Substitution - Nonsense Liver COSM4160321 ARID1B c.5418T>G p.G1806G Substitution - coding silent Thyroid COSM182338 HDAC9 c.2540G>A p.R847H Substitution - Missense Stomach COSM4895180 IDH1 c.1081G>A p.E361K Substitution - Missense Skin COSM2261806 YY1 c.1135G>A p.G379R Substitution - Missense Stomach COSM378905 RBBP5 c.879G>A p.T293T Substitution - coding silent Lung COSM6005133 TAF1 c.2438G>A p.R813H Substitution - Missense Prostate COSM5498463 ZMYM3 c.1470+6G>A p.? Unknown Biliary_tract COSM95256 SMARCB1 c.979G>A p.A327T Substitution - Missense Lung COSM5373360 KDM2A c.2951T>A p.L984Q Substitution - Missense Skin COSM1088644 STK31 c.1888C>A p.L630I Substitution - Missense Endometrium COSM3194769 AKAP1 c.1648G>T p.G550W Substitution - Missense Large_intestine COSM4008366 DMAP1 c.922G>A p.A308T Substitution - Missense Stomach COSM1031233 DNMT3L c.1108C>A p.L370I Substitution - Missense Endometrium COSM1315150 ZBTB33 c.58A>T p.N20Y Substitution - Missense Urinary_tract COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM87919 SHPRH c.495_496insA p.E166fs*7 Insertion - Frameshift Large_intestine COSM96383 ASXL1 c.2957A>G p.N986S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM112121 PRDM2 c.2104_2105insCTC p.P703_A704insP Insertion - In frame Upper_aerodigestive_tract COSM96470 CREBBP c.6624A>C p.Q2208H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM121544 PHF3 c.2274C>T p.G758G Substitution - coding silent Upper_aerodigestive_tract COSM123893 KDM5C c.1006G>C p.D336H Substitution - Missense Upper_aerodigestive_tract COSM133030 ARID1A c.3999_4001delGCA p.Q1334del Deletion - In frame Prostate COSM117725 DUSP1 c.497C>A p.T166N Substitution - Missense Ovary COSM145934 SIRT4 c.466C>T p.R156C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM146212 PHC2 c.2282G>C p.R761P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144515 TET2 c.4615C>T p.Q1539* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM147636 EP400 c.4758A>G p.P1586P Substitution - coding silent Thyroid COSM243676 CHD7 c.2238G>T p.Q746H Substitution - Missense Prostate COSM298325 ARID1A c.3978_3980delGCA p.Q1334delQ Deletion - In frame Stomach COSM299838 EP300 c.1145G>A p.C382Y Substitution - Missense Large_intestine COSM296551 BAZ1B c.4193delA p.Y1398fs*11 Deletion - Frameshift Large_intestine COSM337080 CHD6 c.980A>C p.Y327S Substitution - Missense Lung COSM369954 MBD2 c.592G>T p.G198* Substitution - Nonsense Large_intestine COSM419361 ZMYND8 c.469G>A p.E157K Substitution - Missense Urinary_tract COSM417660 DOT1L c.1947G>A p.K649K Substitution - coding silent Urinary_tract COSM1497228 HCFC1 c.1819G>C p.G607R Substitution - Missense Kidney COSM466810 PRDM11 c.1030G>A p.E344K Substitution - Missense Kidney COSM474779 SIRT6 c.107A>T p.E36V Substitution - Missense Kidney COSM693906 ARID2 c.2101A>T p.T701S Substitution - Missense Lung COSM937513 ATF7IP c.3292C>T p.R1098* Substitution - Nonsense Endometrium COSM726164 SMARCB1 c.446C>A p.T149K Substitution - Missense Lung COSM935974 HNF1A c.862delG p.P291fs*51 Deletion - Frameshift Large_intestine COSM1076374 KDM1B c.312G>T p.K104N Substitution - Missense Endometrium COSM1117727 HCFC1 c.3632C>T p.S1211L Substitution - Missense Endometrium COSM1130582 DIDO1 c.2892C>T p.S964S Substitution - coding silent Prostate COSM1079888 TDRD6 c.1936C>A p.L646I Substitution - Missense Oesophagus COSM1180830 CTCF c.603_604insA p.T204fs*26 Insertion - Frameshift Large_intestine COSM1168030 TET2 c.5703_5704delTT p.F1901fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1289714 EP400 c.8181_8182insCAG p.Q2748_T2749insQ Insertion - In frame Stomach COSM1375544 CHD2 c.2356C>T p.L786F Substitution - Missense Large_intestine COSM1411326 NCOA6 c.1316C>T p.S439F Substitution - Missense Skin COSM1416472 EP300 c.2845G>T p.G949* Substitution - Nonsense Large_intestine COSM1369003 CHD8 c.3389G>A p.R1130H Substitution - Missense Large_intestine COSM1365721 ZMYM2 c.1835G>A p.C612Y Substitution - Missense Large_intestine COSM1341430 ARID1A c.6415delC p.F2141fs*59 Deletion - Frameshift Endometrium COSM1349982 HELLS c.158G>A p.R53H Substitution - Missense Large_intestine COSM1512174 ARID2 c.820C>T p.R274* Substitution - Nonsense Skin COSM1608355 MGA c.9026G>T p.S3009I Substitution - Missense Liver COSM1685361 SETBP1 c.2612T>G p.I871S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1486703 PRDM9 c.2126C>G p.T709S Substitution - Missense Prostate COSM1480507 DNMT1 c.2318C>T p.P773L Substitution - Missense Breast COSM1667708 BRDT c.1696G>T p.E566* Substitution - Nonsense Large_intestine COSM1677162 YEATS4 c.224G>A p.G75D Substitution - Missense Large_intestine COSM1716568 BAP1 c.581-?_659+?del p.? Unknown Pleura COSM1727390 BRDT c.2226A>T p.Q742H Substitution - Missense Liver COSM1748463 KDM4A c.247A>G p.T83A Substitution - Missense Urinary_tract COSM1744933 PBRM1 c.125delC p.P42fs*3 Deletion - Frameshift Biliary_tract COSM42037 TET2 c.4210C>T p.R1404* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM2269469 BAHD1 c.1135T>A p.F379I Substitution - Missense Large_intestine COSM2804964 BAHCC1 c.3018C>G p.P1006P Substitution - coding silent Large_intestine COSM2810328 ASXL3 c.1366C>T p.P456S Substitution - Missense Skin COSM2854087 PBRM1 c.2945G>A p.R982K Substitution - Missense Large_intestine COSM2894230 ATF2 c.528T>C p.L176L Substitution - coding silent Upper_aerodigestive_tract COSM2961712 MYST3 c.2259C>G p.I753M Substitution - Missense Large_intestine COSM3148814 DNMT1 c.906delA p.E303fs*5 Deletion - Frameshift Oesophagus COSM3236952 BRD8 c.2313A>G p.E771E Substitution - coding silent Upper_aerodigestive_tract COSM3357074 SMARCA4 c.3813C>T p.F1271F Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3370738 EZH1 c.1045A>T p.M349L Substitution - Missense Thyroid COSM3397903 GLYATL1 c.306C>A p.Y102* Substitution - Nonsense Central_nervous_system COSM3493097 RERE c.3G>A p.M1I Substitution - Missense Skin COSM3419585 MTF2 c.1210C>T p.R404C Substitution - Missense Large_intestine COSM3451769 DPF2 c.287C>T p.P96L Substitution - Missense Skin COSM3615938 NIPBL c.1689C>A p.S563S Substitution - coding silent Skin COSM3545248 ASXL1 c.433C>T p.L145F Substitution - Missense Skin COSM3525632 INO80C c.256C>T p.P86S Substitution - Missense Skin COSM3659718 PHF2 c.2259C>T p.V753V Substitution - coding silent Skin COSM3680550 PHF23 c.989T>G p.V330G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3667124 ATF7IP c.552G>A p.V184V Substitution - coding silent Liver COSM3702442 DHX30 c.2204A>G p.E735G Substitution - Missense Liver COSM3710201 PHRF1 c.1133G>T p.R378I Substitution - Missense Upper_aerodigestive_tract COSM3733684 KMT2C c.10659_10660insT p.T3554fs*12 Insertion - Frameshift Pancreas COSM3762469 EZH2 c.553G>C p.D185H Substitution - Missense Soft_tissue COSM3812153 KMT2D c.14716C>A p.H4906N Substitution - Missense Breast COSM3798179 HAT1 c.177C>G p.L59L Substitution - coding silent Urinary_tract COSM3861464 ATAT1 c.584G>A p.R195Q Substitution - Missense Stomach COSM3940601 ACTR8 c.229C>T p.R77* Substitution - Nonsense Oesophagus COSM3839735 SMEK2 c.189G>A p.Q63Q Substitution - coding silent Cervix COSM3923314 HDAC9 c.1844C>T p.S615F Substitution - Missense Skin COSM3905428 BRD3 c.888C>T p.G296G Substitution - coding silent Stomach COSM3900852 CHD7 c.748C>T p.R250C Substitution - Missense Stomach COSM3964370 TCF20 c.5308C>T p.Q1770* Substitution - Nonsense Lung COSM4008299 KDM4A c.1630G>A p.V544M Substitution - Missense Stomach COSM4049559 MTA1 c.1447C>T p.R483W Substitution - Missense Stomach COSM3998404 PRDM11 c.1215C>T p.V405V Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4110129 SMC1A c.650T>A p.V217E Substitution - Missense Stomach COSM4060689 CREBBP c.7285G>A p.D2429N Substitution - Missense Stomach COSM4060697 CREBBP c.5451G>A p.P1817P Substitution - coding silent Stomach COSM4147814 YY1 c.757G>T p.E253* Substitution - Nonsense Thyroid COSM4162018 KMT2C c.2315C>T p.S772L Substitution - Missense Upper_aerodigestive_tract COSM4165145 ARID1A c.5991T>C p.N1997N Substitution - coding silent Kidney COSM4205139 EP400 c.1805C>T p.P602L Substitution - Missense Skin COSM4391528 CHD6 c.7560G>C p.M2520I Substitution - Missense Breast COSM4408226 PHF6 c.17A>C p.E6A Substitution - Missense Pancreas COSM4604941 PBRM1 c.2719A>T p.K907* Substitution - Nonsense Upper_aerodigestive_tract COSM4419702 NSD1 c.1482C>T p.C494C Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4505945 SRCAP c.7063C>T p.R2355C Substitution - Missense Breast COSM4512288 CHD7 c.898C>T p.P300S Substitution - Missense Skin COSM4529948 PRDM14 c.1656G>A p.G552G Substitution - coding silent Skin COSM4491903 MSH6 c.3884C>T p.P1295L Substitution - Missense Skin COSM4440169 PRDM14 c.689delC p.P230fs*64 Deletion - Frameshift Thyroid COSM4481286 HDAC9 c.2498C>T p.A833V Substitution - Missense Skin COSM4663893 ASXL1 c.2064G>A p.T688T Substitution - coding silent Large_intestine COSM4672016 CHD4 c.2004G>A p.K668K Substitution - coding silent Large_intestine COSM4689592 HCFC1 c.2376C>T p.T792T Substitution - coding silent Large_intestine COSM4741214 WHSC1L1 c.1392G>A p.P464P Substitution - coding silent Large_intestine COSM4608897 KDM3A c.3434-1G>T p.? Unknown Adrenal_gland COSM4641463 ALKBH3 c.46G>A p.A16T Substitution - Missense Large_intestine COSM4791474 BAZ1A c.3319C>T p.R1107C Substitution - Missense Liver COSM4789466 EPC2 c.1614T>A p.S538R Substitution - Missense Liver COSM4932893 TTF2 c.901A>T p.I301L Substitution - Missense Liver COSM4929225 PHF2 c.709T>G p.C237G Substitution - Missense Liver COSM4919167 PHF16 c.6A>G p.K2K Substitution - coding silent Liver COSM4834737 KDM5A c.3222G>A p.L1074L Substitution - coding silent Cervix COSM4821815 TAF1L c.5147C>T p.S1716F Substitution - Missense Cervix COSM4949439 PRDM2 c.512-1G>C p.? Unknown Liver COSM4956465 ARID1B c.5776C>T p.R1926* Substitution - Nonsense Liver COSM4969328 CREBBP c.4765delA p.N1589fs*46 Deletion - Frameshift Central_nervous_system COSM4999549 ASH1L c.2574G>T p.Q858H Substitution - Missense Pancreas COSM4972048 KMT2C c.1000delG p.A334fs*21 Deletion - Frameshift Central_nervous_system COSM4972097 DAXX c.141_150del10 p.R48fs*93 Deletion - Frameshift Thyroid COSM5057249 NCOA6 c.538G>T p.A180S Substitution - Missense Stomach COSM5071994 PRDM2 c.1073T>G p.F358C Substitution - Missense Large_intestine COSM5161760 SMARCD2 c.119delC p.P40fs*16 Deletion - Frameshift Large_intestine COSM5364155 BAHCC1 c.7345G>A p.A2449T Substitution - Missense Large_intestine COSM5356580 BRD9 c.38T>C p.F13S Substitution - Missense Large_intestine COSM5423687 ZMYND8 c.2353C>T p.R785C Substitution - Missense Prostate COSM5739391 RSF1 c.840_841insA p.E281fs*3 Insertion - Frameshift Small_intestine COSM5694409 BRWD3 c.2361C>A p.R787R Substitution - coding silent Soft_tissue COSM5695192 JARID2 c.362A>G p.Q121R Substitution - Missense Soft_tissue COSM5611440 BAP1 c.651delC p.T218fs*13 Deletion - Frameshift Pleura COSM5878827 DNMT3A c.1578C>G p.Y526* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5799912 NCOA5 c.898G>C p.E300Q Substitution - Missense Breast COSM5800137 SIRT6 c.441G>A p.Q147Q Substitution - coding silent Breast COSM5817841 ACTA1 c.1055C>T p.S352F Substitution - Missense Liver COSM5894868 JHDM1D c.725C>T p.P242L Substitution - Missense Skin COSM5909829 NCOA6 c.1697C>T p.P566L Substitution - Missense Skin COSM6007493 TAF1L c.4225G>A p.E1409K Substitution - Missense Prostate COSM5992256 KDM4A c.2300C>A p.S767* Substitution - Nonsense Prostate COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM5757627 PBRM1 c.? p.? Unknown Kidney COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM51384 IDH1 c.? p.R132L Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM86975 IKZF1 c.1-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Central_nervous_system COSM1716181 EZH2 c.? p.V637A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3460557 KDM5A c.3602C>T p.S1201F Substitution - Missense Skin COSM283987 PHF20L1 c.252C>A p.F84L Substitution - Missense Large_intestine COSM4584243 ZCWPW2 c.275T>C p.V92A Substitution - Missense Bone COSM3661732 NSD1 c.7240T>G p.L2414V Substitution - Missense Liver COSM3394084 BAG6 c.3364T>A p.F1122I Substitution - Missense Pancreas COSM4993653 ASXL1 c.1813_1814insC p.C605fs*14 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4421042 CHD3 c.3443C>T p.A1148V Substitution - Missense Prostate COSM1756800 CHD4 c.5435C>T p.S1812F Substitution - Missense Urinary_tract COSM3562421 PHF8 c.2801C>T p.P934L Substitution - Missense Skin COSM3735014 SMARCA4 c.1326_1326delC p.S442fs*59 Deletion - Frameshift Ovary COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM4420678 BRWD3 c.3891T>C p.S1297S Substitution - coding silent Central_nervous_system COSM5996753 PHF1 c.536G>C p.G179A Substitution - Missense Prostate COSM3697819 BRPF3 c.3537G>C p.V1179V Substitution - coding silent Large_intestine COSM3863716 TDRD5 c.47G>A p.R16K Substitution - Missense Skin COSM253852 TAF1 c.339C>T p.I113I Substitution - coding silent Urinary_tract COSM5879077 EZH2 c.2125G>A p.G709S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5040769 SMARCD3 c.505T>G p.W169G Substitution - Missense Liver COSM5616858 CREBBP c.6450G>A p.P2150P Substitution - coding silent Lung COSM1685023 ZBTB38 c.713G>T p.R238L Substitution - Missense Lung COSM302646 KMT2D c.15208C>T p.R5070* Substitution - Nonsense Central_nervous_system COSM3479269 TDRD5 c.142C>T p.L48F Substitution - Missense Skin COSM1637969 HDGF c.164+1G>T p.? Unknown Bone COSM1732401 L3MBTL3 c.1610G>C p.G537A Substitution - Missense Bone COSM1732037 PBRM1 c.4289-1G>T p.? Unknown Kidney COSM3876367 ACTL6B c.1105A>G p.T369A Substitution - Missense Stomach COSM366631 L3MBTL3 c.799G>T p.G267C Substitution - Missense Lung COSM5434565 PHF15 c.1896T>G p.D632E Substitution - Missense Oesophagus COSM4590120 KDM4B c.2128A>G p.K710E Substitution - Missense Upper_aerodigestive_tract COSM738276 PRDM9 c.1759C>A p.R587R Substitution - coding silent Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM415788 KDM2A c.3058C>T p.R1020W Substitution - Missense Endometrium COSM3661810 NIPBL c.4040C>T p.T1347I Substitution - Missense Liver COSM5922637 PHF14 c.2178T>G p.Y726* Substitution - Nonsense Skin COSM126620 CHD8 c.4965T>A p.C1655* Substitution - Nonsense Upper_aerodigestive_tract COSM3733523 NCOR1 c.14G>T p.G5V Substitution - Missense Upper_aerodigestive_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Skin COSM3733523 NCOR1 c.14G>T p.G5V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52825 PBRM1 c.3393delA p.E1132fs*27 Deletion - Frameshift Kidney COSM1258622 MYST3 c.5630G>A p.R1877H Substitution - Missense Stomach COSM3906616 SMARCA2 c.4022T>C p.V1341A Substitution - Missense Stomach COSM3984938 ARID1A c.6191T>C p.L2064P Substitution - Missense Kidney COSM3837124 BAZ2B c.4917T>G p.G1639G Substitution - coding silent Breast COSM3972167 DNMT3A c.2678G>A p.W893* Substitution - Nonsense Central_nervous_system COSM3858420 EYA4 c.1855T>C p.W619R Substitution - Missense Stomach COSM908673 ZMYM4 c.1740C>T p.N580N Substitution - coding silent Endometrium COSM2230161 PRDM2 c.4551A>G p.T1517T Substitution - coding silent Large_intestine COSM41292 IDH1 c.? p.R132G Substitution - Missense Bone COSM5364027 PCGF2 c.499C>T p.R167* Substitution - Nonsense Large_intestine COSM3848131 EHMT1 c.2999G>T p.S1000I Substitution - Missense Breast COSM3986361 KAT5 c.247+2T>A p.? Unknown Kidney COSM1249111 CREBBP c.6727G>A p.A2243T Substitution - Missense Oesophagus COSM317253 DNMT1 c.1719G>T p.Q573H Substitution - Missense Soft_tissue COSM431195 KMT2D c.15186G>T p.M5062I Substitution - Missense Breast COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4823706 ALKBH3 c.773G>A p.R258Q Substitution - Missense Cervix COSM5757571 ATRX c.1961G>A p.R654Q Substitution - Missense Large_intestine COSM5600456 SETD5_ENST00000402198 c.974T>G p.V325G Substitution - Missense Skin COSM909547 SCMH1 c.944A>G p.Y315C Substitution - Missense Endometrium COSM4100481 ZGPAT c.885C>T p.D295D Substitution - coding silent Stomach COSM3631913 PHF14 c.810G>A p.K270K Substitution - coding silent Skin COSM1606166 HDAC7 c.1187A>G p.E396G Substitution - Missense Liver COSM1242744 PWWP2B c.1737G>A p.P579P Substitution - coding silent Oesophagus COSM3959128 ASXL3 c.223G>T p.E75* Substitution - Nonsense Lung COSM1287121 PHRF1 c.2479G>A p.E827K Substitution - Missense Autonomic_ganglia COSM4549155 PRMT7 c.465G>T p.A155A Substitution - coding silent Skin COSM3440611 KAT6B c.3328C>T p.P1110S Substitution - Missense Skin COSM2950081 BRPF1 c.2806C>G p.P936A Substitution - Missense Prostate COSM5990300 PRDM12 c.682+7G>C p.? Unknown Liver COSM1457686 CHD7 c.501G>A p.P167P Substitution - coding silent Large_intestine COSM1560994 RNF134 c.83_84insGCCTCC p.P28_V29insPP Insertion - In frame Large_intestine COSM24300 CHD8 c.3275G>A p.R1092H Substitution - Missense Ovary COSM303883 TBL1XR1 c.226C>T p.R76* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM119985 CHD6 c.2845A>G p.K949E Substitution - Missense Ovary COSM4766166 TET2 c.3897G>T p.K1299N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5367542 LBR c.261_262insC p.G88fs*5 Insertion - Frameshift Large_intestine COSM1026083 NCOA6 c.3090_3092delGCA p.Q1032delQ Deletion - In frame Large_intestine COSM1631372 BAZ2B c.2064T>C p.G688G Substitution - coding silent Liver COSM4068923 BPTF c.4574G>T p.S1525I Substitution - Missense Stomach COSM4466645 WHSC1L1 c.1445C>T p.S482F Substitution - Missense Skin COSM5505200 PRDM1 c.622C>A p.P208T Substitution - Missense Biliary_tract COSM5798934 ACTB c.241G>A p.D81N Substitution - Missense Breast COSM1485689 SETD7 c.223A>T p.T75S Substitution - Missense Breast COSM1109469 KIAA2026_ENST00000399933 c.2381C>T p.S794L Substitution - Missense Biliary_tract COSM1257804 MLL5 c.2888G>A p.R963H Substitution - Missense Small_intestine COSM1666862 ARID1A c.? p.? Unknown Endometrium COSM279124 BAZ2A_ENST00000379441 c.496G>T p.E166* Substitution - Nonsense Large_intestine COSM3750243 TRIM33 c.1146A>G p.Q382Q Substitution - coding silent Soft_tissue COSM5995541 GABRG1 c.1038A>C p.A346A Substitution - coding silent Prostate COSM1088159 HDAC9 c.1216G>T p.E406* Substitution - Nonsense Endometrium COSM5614599 SMARCA4 c.3951+1G>A p.? Unknown Lung COSM3888418 SETD1A c.3311C>T p.P1104L Substitution - Missense Skin COSM699894 INOC1 c.43G>A p.E15K Substitution - Missense Lung COSM4778807 BAZ2A_ENST00000379441 c.1141+10G>A p.? Unknown Liver COSM3349899 PHF1 c.748C>T p.R250C Substitution - Missense Breast COSM4406553 BAHCC1 c.4634T>G p.V1545G Substitution - Missense Pancreas COSM2156980 PRMT10 c.869G>T p.C290F Substitution - Missense Central_nervous_system COSM3592020 KAT2B c.443C>T p.S148F Substitution - Missense Skin COSM5716498 MGA c.7511C>T p.S2504F Substitution - Missense Skin COSM5944518 TET2 c.4629_4630insC p.Q1545fs*33 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4839951 BRWD3 c.819T>C p.C273C Substitution - coding silent Cervix COSM5967124 EZH2 c.227C>G p.S76* Substitution - Nonsense Salivary_gland COSM447092 SETD5_ENST00000402198 c.3980C>G p.S1327C Substitution - Missense Breast COSM1716623 ATRX c.874C>T p.Q292* Substitution - Nonsense Central_nervous_system COSM940010 KMT2D c.10504A>G p.K3502E Substitution - Missense Endometrium COSM1194606 CHD2 c.4197G>T p.E1399D Substitution - Missense Lung COSM1133055 SMARCB1 c.501_628del128 p.? Unknown Central_nervous_system COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1180424 SIRT2 c.718C>A p.P240T Substitution - Missense Prostate COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1158242 SETD2 c.4338_4340delACC p.P1447delP Deletion - In frame Pancreas COSM1130607 ADNP c.1286C>G p.A429G Substitution - Missense Prostate COSM5941714 SP100 c.1483C>T p.P495S Substitution - Missense Skin COSM5815360 EYA1 c.279A>G p.P93P Substitution - coding silent Liver COSM2911455 NCOA1 c.3143C>T p.P1048L Substitution - Missense Large_intestine COSM69426 CHD2 c.1810-1G>C p.? Unknown Ovary COSM41293 IDH1 c.? p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1158531 BRD8 c.2035C>G p.Q679E Substitution - Missense Pancreas COSM4099056 ZMYND8 c.3141G>A p.A1047A Substitution - coding silent Stomach COSM3661431 KDM3B c.2715C>T p.I905I Substitution - coding silent Liver COSM4513879 KMT2D c.8738C>T p.A2913V Substitution - Missense Skin COSM4584550 PBRM1 c.765C>T p.L255L Substitution - coding silent Bone COSM4169559 ASXL1 c.? p.A611fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM1288327 TAF1 c.86A>G p.D29G Substitution - Missense Autonomic_ganglia COSM1637604 CHD8 c.5501G>A p.R1834Q Substitution - Missense Bone COSM3978580 ERCC6 c.2574A>G p.V858V Substitution - coding silent Lung COSM1299056 SETD8 c.8G>A p.R3K Substitution - Missense Urinary_tract COSM4484713 DIDO1 c.2842C>T p.P948S Substitution - Missense Skin COSM5921163 HDAC5 c.2607+4G>A p.? Unknown Skin COSM307767 ASXL1 c.1902_1924del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5044430 ARID1A c.3736A>G p.M1246V Substitution - Missense Kidney COSM4003461 NSD1 c.6829T>C p.L2277L Substitution - coding silent Soft_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28815 KDM6A c.1_4206del4206 p.0? Whole gene deletion Pancreas COSM23024 MEN1 c.824+2T>G p.? Unknown Parathyroid COSM4025618 TDRD5 c.2343+1G>T p.? Unknown Stomach COSM88087 KMT2D c.11902C>T p.R3968C Substitution - Missense Central_nervous_system COSM4586286 SHPRH c.4281A>G p.T1427T Substitution - coding silent Bone COSM4765301 INO80B c.73_74insA p.H27fs*67 Insertion - Frameshift Stomach COSM6018283 PHF21B c.757G>A p.E253K Substitution - Missense Skin COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3903661 PHF19 c.1579G>A p.E527K Substitution - Missense Stomach COSM80391 PRDM16 c.1953C>T p.G651G Substitution - coding silent Large_intestine COSM1735942 ATRX c.4746_4749delAAAG p.K1583fs*22 Deletion - Frameshift Central_nervous_system COSM4384694 KMT2D c.14552C>T p.A4851V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1047073 PBRM1 c.4196C>A p.A1399D Substitution - Missense Endometrium COSM3188406 KAT2A c.223delG p.D75fs*7 Deletion - Frameshift Large_intestine COSM6005462 KMT2D c.? p.F2469fs*18 Frameshift Breast COSM1159611 KDM4C c.2025C>T p.V675V Substitution - coding silent Pancreas COSM3423700 NCOA3 c.3637C>T p.Q1213* Substitution - Nonsense Skin COSM5017944 PRMT10 c.757G>T p.V253L Substitution - Missense Soft_tissue COSM1027546 NCOA3 c.3786G>A p.Q1262Q Substitution - coding silent Large_intestine COSM1622431 JHDM1D c.2627T>A p.L876Q Substitution - Missense Liver COSM1625488 SMARCA1 c.2954A>G p.Y985C Substitution - Missense Liver COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5373650 RSF1 c.2387C>T p.A796V Substitution - Missense Skin COSM272996 NCOA6 c.6161C>T p.A2054V Substitution - Missense Upper_aerodigestive_tract COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4750884 ZMYM5 c.176A>C p.D59A Substitution - Missense Stomach COSM88025 SMARCA4 c.2729C>T p.T910M Substitution - Missense Stomach COSM252975 CHD1 c.2181-4delT p.? Unknown Ovary COSM4888264 PRDM15 c.2621G>T p.R874L Substitution - Missense Upper_aerodigestive_tract COSM142308 ASXL1 c.1957_1964delGGGGCCAC p.G653fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3592028 KAT2B c.1680C>T p.F560F Substitution - coding silent Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1122192 HDAC6 c.1728C>T p.F576F Substitution - coding silent Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM918679 ERCC6 c.814G>A p.E272K Substitution - Missense Endometrium COSM926004 SIRT3 c.856G>A p.V286I Substitution - Missense Endometrium COSM3596050 PHF7 c.949C>T p.P317S Substitution - Missense Skin COSM133126 DNMT3A c.2204A>G p.Y735C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4119065 BAP1 c.488G>A p.R163Q Substitution - Missense Stomach COSM5777502 KDM1A c.2597C>A p.P866Q Substitution - Missense Breast COSM5934404 RERE c.879+3G>A p.? Unknown Skin COSM3633849 TIF1 c.1377C>T p.F459F Substitution - coding silent Skin COSM4409784 HDAC7 c.328C>A p.P110T Substitution - Missense Oesophagus COSM971998 SETD6 c.1206C>T p.T402T Substitution - coding silent Endometrium COSM1380023 CDYL2 c.323G>A p.R108Q Substitution - Missense Large_intestine COSM738288 PRDM9 c.195T>C p.G65G Substitution - coding silent Lung COSM4990208 HNF1A c.182C>T p.P61L Substitution - Missense Skin COSM385949 PRDM9 c.7C>A p.P3T Substitution - Missense Lung COSM1484262 EP300 c.1501_1502insG p.Q501fs*12 Insertion - Frameshift Breast COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM3546243 ACTR5 c.1656C>T p.I552I Substitution - coding silent Skin COSM5833382 PHF23 c.1091delA p.H364fs*24 Deletion - Frameshift Breast COSM1239826 PHRF1 c.2078G>A p.R693Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1480123 KDM6B c.2253_2255delCAC p.T762delT Deletion - In frame Skin COSM3951757 CHD7 c.8629G>T p.A2877S Substitution - Missense Lung COSM33476 PHIP c.5300G>T p.R1767I Substitution - Missense Large_intestine COSM463140 LMNA c.1444C>T p.R482W Substitution - Missense Kidney COSM3760136 SMARCC1 c.1845A>G p.K615K Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3620830 EYA4 c.1694G>A p.G565E Substitution - Missense Skin COSM4021541 PRDM2 c.1216C>T p.R406W Substitution - Missense Stomach COSM3545319 DNMT3B c.2518C>T p.R840* Substitution - Nonsense Skin COSM5804572 ALKBH3 c.690A>T p.T230T Substitution - coding silent Liver COSM110711 ASXL1 c.2537G>A p.S846N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3858859 SHPRH c.1455G>A p.R485R Substitution - coding silent Stomach COSM3460327 PRMT8 c.88C>T p.P30S Substitution - Missense Skin COSM3375507 JMJD1C c.1884A>T p.Q628H Substitution - Missense Pancreas COSM1433178 PHF15 c.955G>T p.G319C Substitution - Missense Large_intestine COSM1025734 ASXL1 c.3737T>A p.V1246D Substitution - Missense Endometrium COSM3236608 HCFC1 c.506A>G p.Y169C Substitution - Missense Large_intestine COSM3253728 BAG6 c.1109C>A p.P370H Substitution - Missense Large_intestine COSM1483563 NCOA6 c.156C>G p.F52L Substitution - Missense Breast COSM96347 ASXL1 c.? p.G646fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM4714004 PHF21B c.131C>T p.T44M Substitution - Missense Large_intestine COSM4107269 FMR1 c.294A>G p.A98A Substitution - coding silent Stomach COSM5945013 TET2 c.550G>T p.E184* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5921709 NCOA6 c.44C>T p.S15F Substitution - Missense Skin COSM5953219 SMARCD1 c.1373C>A p.S458Y Substitution - Missense Oesophagus COSM3823575 KAT2B c.1658G>A p.R553H Substitution - Missense Breast COSM3501098 MGA c.1581A>T p.E527D Substitution - Missense Skin COSM1325200 KDM4B c.192C>T p.D64D Substitution - coding silent Stomach COSM3444007 KMT2A c.9284C>T p.P3095L Substitution - Missense Skin COSM3975165 PHF15 c.2277C>T p.S759S Substitution - coding silent Central_nervous_system COSM730421 KAT2B c.760C>T p.R254C Substitution - Missense Lung COSM5347085 ARID1A c.3763G>A p.G1255R Substitution - Missense Endometrium COSM5346298 TDRD10 c.609C>A p.I203I Substitution - coding silent Urinary_tract COSM1230639 TRRAP c.5699C>T p.A1900V Substitution - Missense Large_intestine COSM4384165 MLL5 c.5168C>T p.P1723L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM107062 CREBBP c.2126C>T p.S709F Substitution - Missense Skin COSM3962952 SMEK2 c.2004A>C p.K668N Substitution - Missense Lung COSM4511373 MORF4L1 c.866C>T p.P289L Substitution - Missense Skin COSM2773698 KIAA1045 c.326G>A p.R109Q Substitution - Missense Large_intestine COSM1124893 TAF1 c.2616G>A p.T872T Substitution - coding silent Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM278971 ARID2 c.940C>T p.R314C Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4602419 ARID1B c.5226G>C p.K1742N Substitution - Missense Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM389441 EP300 c.3900C>T p.T1300T Substitution - coding silent Lung COSM5667817 EHMT1 c.451G>T p.G151W Substitution - Missense Soft_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM278971 ARID2 c.940C>T p.R314C Substitution - Missense Skin COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM1187515 ELP3 c.1384C>T p.R462C Substitution - Missense Skin COSM5029493 KMT2D c.177-1G>A p.? Unknown Bone COSM1270990 ZMYM3 c.2350C>G p.Q784E Substitution - Missense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4450346 MBD6 c.555delC p.P187fs*81 Deletion - Frameshift Skin COSM1262032 PHC3 c.2877_2889del13 p.S960fs? Deletion - Frameshift Stomach COSM1034761 TCF20 c.3729G>T p.E1243D Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1297498 BTAF1 c.2716C>A p.Q906K Substitution - Missense Urinary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4950400 NCOA7 c.712G>A p.G238S Substitution - Missense Biliary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM252866 TDRD1 c.2434C>T p.R812* Substitution - Nonsense Large_intestine COSM1363037 SMARCC2 c.3274_3276delCCT p.P1092delP Deletion - In frame Large_intestine COSM4824099 KMT2C c.6658C>T p.Q2220* Substitution - Nonsense Breast COSM3986352 DPF2 c.133C>G p.Q45E Substitution - Missense Kidney COSM1716415 CTCF c.610delA p.T204fs*18 Deletion - Frameshift Endometrium COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM4486448 PRDM2 c.3054C>T p.S1018S Substitution - coding silent Skin COSM3396062 EP400 c.3337A>G p.S1113G Substitution - Missense Prostate COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM333705 KMT2C c.2462C>T p.P821L Substitution - Missense Lung COSM480182 SETD2 c.344C>G p.S115* Substitution - Nonsense Kidney COSM358003 PBRM1 c.3818G>C p.G1273A Substitution - Missense Lung COSM4921723 ATAD2 c.1661C>T p.T554I Substitution - Missense Liver COSM4092260 SP140_ENST00000392045 c.1614C>T p.N538N Substitution - coding silent Stomach COSM5752245 ARID1A c.6533delA p.D2178fs*22 Deletion - Frameshift Breast COSM4411410 EPC1 c.2204T>A p.L735Q Substitution - Missense Kidney COSM3671831 RERE c.1644C>A p.P548P Substitution - coding silent Prostate COSM392512 SMARCA5 c.2985_2985+1insGT p.E996fs*10 Unknown Lung COSM5718015 BRD4 c.613C>T p.P205S Substitution - Missense Skin COSM303811 TBL1XR1 c.862_864+4delAAGGTAA p.? Unknown Haematopoietic_and_lymphoid_tissue COSM249471 BAP1 c.2077G>T p.E693* Substitution - Nonsense Kidney COSM316703 ZMYM4 c.86-1_86GG>TT p.? Unknown Lung COSM5666744 TRIM24 c.517A>C p.N173H Substitution - Missense Soft_tissue COSM3475165 LMNA c.1765G>C p.G589R Substitution - Missense Skin COSM709515 SETBP1 c.3599T>C p.V1200A Substitution - Missense Lung COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM27276 SMARCB1 c.385_398del14 p.S129fs*36 Deletion - Frameshift Bone COSM85987 ATRX c.6083G>C p.R2028P Substitution - Missense Breast COSM53207 ASXL1 c.2387G>A p.W796* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM87130 TET2 c.3781C>T p.R1261C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM88788 EP300 c.187C>T p.Q63* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM129426 SRCAP c.503T>A p.M168K Substitution - Missense Upper_aerodigestive_tract COSM118429 SETD1A c.1743C>T p.D581D Substitution - coding silent Ovary COSM144545 TET2 c.5216G>T p.R1739I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM140088 CCDC101 c.362C>T p.T121I Substitution - Missense Skin COSM158621 NCOA7 c.1750A>G p.K584E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM163437 PHC3 c.2257G>A p.E753K Substitution - Missense Breast COSM218772 DHX30 c.2003C>T p.P668L Substitution - Missense Pancreas COSM249258 KDM5C c.4270C>T p.Q1424* Substitution - Nonsense Kidney COSM254672 EP300 c.4352A>T p.H1451L Substitution - Missense Urinary_tract COSM280724 EED c.1172T>C p.L391S Substitution - Missense Large_intestine COSM291735 CREBBP c.5039_5041delCCT p.S1680delS Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM332014 FXR1 c.1763G>C p.G588A Substitution - Missense Lung COSM351006 WHSC1 c.1957G>T p.V653F Substitution - Missense Lung COSM379334 WHSC1 c.3295G>A p.E1099K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM418988 DNMT3B c.809C>G p.S270C Substitution - Missense Urinary_tract COSM417942 CHD3 c.3563C>T p.A1188V Substitution - Missense Large_intestine COSM439143 LMNB2 c.1356T>C p.G452G Substitution - coding silent Large_intestine COSM980586 CBX1 c.135C>A p.F45L Substitution - Missense Endometrium COSM480356 PBRM1 c.2536G>T p.E846* Substitution - Nonsense Kidney COSM483194 PRDM13 c.397+1G>A p.? Unknown Kidney COSM918680 ERCC6 c.431C>T p.T144M Substitution - Missense Upper_aerodigestive_tract COSM954442 CHD8 c.2827C>T p.R943C Substitution - Missense Large_intestine COSM1026059 NCOA6 c.5293G>T p.E1765* Substitution - Nonsense Endometrium COSM1026867 CHD6 c.3935T>A p.V1312D Substitution - Missense Endometrium COSM1031244 AIRE c.1115C>T p.S372L Substitution - Missense Endometrium COSM704900 NCOR1 c.459T>C p.H153H Substitution - coding silent Lung COSM909999 DMAP1 c.956G>C p.G319A Substitution - Missense Endometrium COSM1040960 MECOM c.2996C>T p.P999L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM971267 BRD7 c.565G>T p.D189Y Substitution - Missense Endometrium COSM1061313 KDM3B c.1374G>T p.S458S Substitution - coding silent Endometrium COSM1125418 ATRX c.5407C>T p.R1803C Substitution - Missense Bone COSM1087513 KMT2C c.14025G>A p.A4675A Substitution - coding silent Endometrium COSM1106533 BRD3 c.1885C>T p.L629L Substitution - coding silent Endometrium COSM1079897 TDRD6 c.2752C>A p.L918I Substitution - Missense Endometrium COSM1242007 ARID1A c.3211delA p.K1072fs*21 Deletion - Frameshift Large_intestine COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1195129 BPTF c.5785G>A p.A1929T Substitution - Missense Lung COSM1262062 PHF21B c.1217G>T p.G406V Substitution - Missense Oesophagus COSM1255497 KDM4D c.673C>T p.R225C Substitution - Missense Stomach COSM1180098 KMT2C c.1005T>A p.P335P Substitution - coding silent Soft_tissue COSM1313189 ACTB c.1043C>T p.S348L Substitution - Missense Urinary_tract COSM1299179 ATF7IP c.797C>T p.S266F Substitution - Missense Urinary_tract COSM1290504 SRCAP c.2658T>G p.H886Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM42029 TET2 c.3646C>T p.R1216* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1318831 NCOA3 c.1385delA p.N462fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1372818 MGA c.1836delA p.R614fs*7 Deletion - Frameshift Large_intestine COSM1364811 PHC1 c.2576G>A p.R859H Substitution - Missense Large_intestine COSM1341430 ARID1A c.6415delC p.F2141fs*59 Deletion - Frameshift Stomach COSM1493009 MBD6 c.1972G>T p.D658Y Substitution - Missense Kidney COSM1470303 TDRD1 c.1726T>C p.Y576H Substitution - Missense Prostate COSM1583399 SETDB1 c.2471C>T p.A824V Substitution - Missense Endometrium COSM1624934 KIAA1045 c.972T>A p.F324L Substitution - Missense Liver COSM1620269 NIPBL c.3929C>T p.A1310V Substitution - Missense Liver COSM1579532 TP53BP1 c.4510G>T p.G1504W Substitution - Missense Lung COSM1579692 TTF2 c.2174C>A p.P725H Substitution - Missense Central_nervous_system COSM1688722 ASH1L c.5951C>T p.P1984L Substitution - Missense Skin COSM1721511 ARID1A c.2683C>T p.Q895* Substitution - Nonsense Biliary_tract COSM1716419 CTCF c.1056G>T p.K352N Substitution - Missense Endometrium COSM1713965 SETD4 c.143C>T p.S48L Substitution - Missense Skin COSM1660642 ASH1L c.1297C>T p.Q433* Substitution - Nonsense Kidney COSM1663845 RBBP5 c.487G>A p.G163R Substitution - Missense Breast COSM1752704 KDM3A c.469C>T p.R157* Substitution - Nonsense Urinary_tract COSM1749520 GTF3C1 c.4286T>A p.L1429H Substitution - Missense Urinary_tract COSM1756574 KDM6A c.378C>T p.Y126Y Substitution - coding silent Urinary_tract COSM1966261 TAF3 c.1484C>T p.P495L Substitution - Missense Skin COSM2041395 KDM2A c.2500C>A p.R834S Substitution - Missense Large_intestine COSM2080194 ZMYM4 c.215_216insG p.Y72fs*1 Insertion - Frameshift Large_intestine COSM2209150 TDRD10 c.733G>A p.V245I Substitution - Missense Pancreas COSM2828729 SETD5_ENST00000402198 c.219T>C p.P73P Substitution - coding silent Upper_aerodigestive_tract COSM2861153 JHDM1D c.379C>T p.R127C Substitution - Missense Upper_aerodigestive_tract COSM3090589 PSIP1 c.222_226delAAAAG p.K75fs*2 Deletion - Frameshift Stomach COSM3069713 DHX30 c.1521G>T p.L507L Substitution - coding silent Oesophagus COSM3317950 PHF20L1 c.7delA p.K4fs*70 Deletion - Frameshift Large_intestine COSM3385158 SETDB1 c.3444G>T p.K1148N Substitution - Missense Pancreas COSM3383484 PHF21A c.793G>A p.V265I Substitution - Missense Pancreas COSM3396084 BAZ2A c.4686G>T p.Q1562H Substitution - Missense Prostate COSM3429896 HDAC2 c.1001A>G p.Y334C Substitution - Missense Large_intestine COSM3454806 KDM4D c.778C>T p.P260S Substitution - Missense Skin COSM3625669 RING1 c.509G>T p.S170I Substitution - Missense Skin COSM3578878 SP140_ENST00000392045 c.255T>A p.F85L Substitution - Missense Skin COSM3644825 ATAD2 c.3359C>T p.P1120L Substitution - Missense Skin COSM3673363 MECP2 c.537C>A p.P179P Substitution - coding silent Prostate COSM3722551 KMT2D c.6669G>T p.G2223G Substitution - coding silent Upper_aerodigestive_tract COSM3733439 SMC1A c.2398C>G p.Q800E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3818591 CDYL2 c.1110C>T p.I370I Substitution - coding silent Breast COSM3848672 KDM4C c.2587C>T p.R863* Substitution - Nonsense Breast COSM3840179 KDM3A c.1073G>T p.R358I Substitution - Missense Breast COSM3875089 PHF3 c.5061C>T p.N1687N Substitution - coding silent Stomach COSM3887016 TP53BP1 c.1516C>T p.L506L Substitution - coding silent Skin COSM4031539 PRDM16 c.2223G>A p.T741T Substitution - coding silent Stomach COSM4001259 BAZ2B c.1589C>T p.P530L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4059641 GTF3C1 c.5282A>C p.E1761A Substitution - Missense Stomach COSM4130771 CHD3 c.4322T>G p.V1441G Substitution - Missense Large_intestine COSM4150129 KMT2D c.9930+2T>A p.? Unknown Ovary COSM4162022 KMT2C c.1131A>T p.P377P Substitution - coding silent Thyroid COSM4156642 FMR1 c.357A>C p.K119N Substitution - Missense Upper_aerodigestive_tract COSM4186317 PRDM16 c.707A>G p.D236G Substitution - Missense Kidney COSM4325778 PBRM1 c.996-7T>A p.? Unknown Large_intestine COSM4383837 TET2 c.2269delC p.L757fs*56 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4383962 TET2 c.4988delG p.S1663fs*32 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4404832 SCMH1 c.158A>G p.D53G Substitution - Missense Skin COSM4595395 AP001011.3_ENST00000320876 c.46A>G p.T16A Substitution - Missense Upper_aerodigestive_tract COSM4416035 MSH6 c.3488A>T p.E1163V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4533469 BAHD1 c.1986G>A p.M662I Substitution - Missense Skin COSM4517777 AP001011.3_ENST00000320876 c.418_419CC>TT p.P140F Substitution - Missense Skin COSM4581009 SIRT2 c.145C>A p.L49I Substitution - Missense Bone COSM4581430 SUV420H2 c.9C>G p.P3P Substitution - coding silent Bone COSM4432704 KMT2D c.511-1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4591258 PHF3 c.236G>T p.C79F Substitution - Missense Upper_aerodigestive_tract COSM4430206 PRDM15 c.1470G>A p.A490A Substitution - coding silent Oesophagus COSM4458960 GATAD2A c.677C>T p.P226L Substitution - Missense Skin COSM4745721 SUZ12 c.1814A>T p.D605V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4694936 KDM3A c.3546G>A p.T1182T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4693814 JARID2 c.3592G>A p.G1198S Substitution - Missense Large_intestine COSM4628883 KDM4C c.2537T>C p.V846A Substitution - Missense Large_intestine COSM4623570 HDAC5 c.1433C>T p.A478V Substitution - Missense Large_intestine COSM4654531 MSL3 c.1254A>G p.E418E Substitution - coding silent Large_intestine COSM4766119 TET2 c.3958G>T p.E1320* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4753955 TP53BP1 c.2975T>G p.V992G Substitution - Missense Stomach COSM4801640 MBTD1 c.71C>G p.P24R Substitution - Missense Liver COSM4801997 BAZ2B c.2315A>G p.Y772C Substitution - Missense Liver COSM4792334 DMAP1 c.166G>A p.E56K Substitution - Missense Liver COSM4923280 SRCAP c.8366G>A p.G2789E Substitution - Missense Liver COSM4830186 SND1 c.112C>G p.Q38E Substitution - Missense Cervix COSM4811662 CHD4 c.4869G>C p.V1623V Substitution - coding silent Urinary_tract COSM4952125 MEAF6 c.30G>T p.P10P Substitution - coding silent Liver COSM4991528 EP300 c.3220C>T p.P1074S Substitution - Missense Skin COSM5017225 KMT2A c.6911A>T p.K2304M Substitution - Missense Kidney COSM5363241 MYST1 c.1339delC p.K449fs*>10 Deletion - Frameshift Large_intestine COSM5375175 ARID2 c.1648C>T p.L550F Substitution - Missense Skin COSM5394460 EPC2 c.297G>C p.Q99H Substitution - Missense Skin COSM5367678 PRDM9 c.508+5_508+6insA p.? Unknown Large_intestine COSM5357841 NCOA7 c.289A>G p.T97A Substitution - Missense Large_intestine COSM5358523 TRRAP c.9676A>G p.S3226G Substitution - Missense Large_intestine COSM5510642 HNF1A c.934C>A p.L312I Substitution - Missense Biliary_tract COSM5492302 SND1 c.2163_2164insC p.V724fs*42 Insertion - Frameshift Biliary_tract COSM5624233 KMT2D c.3315C>T p.D1105D Substitution - coding silent Oesophagus COSM5626828 BRPF1 c.3058G>A p.D1020N Substitution - Missense Oesophagus COSM5726169 DNMT3A c.339G>A p.G113G Substitution - coding silent Skin COSM5741434 SMARCA4 c.3873G>T p.K1291N Substitution - Missense Small_intestine COSM5736784 ZBTB38 c.1084C>T p.Q362* Substitution - Nonsense Small_intestine COSM5600996 AIRE c.1281C>T p.N427N Substitution - coding silent Skin COSM5617279 NSD1 c.4766-10G>A p.? Unknown Lung COSM5657290 JMJD1C c.272G>C p.R91P Substitution - Missense Soft_tissue COSM5713897 ACTB c.127G>C p.V43L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5704131 DPF2 c.904G>A p.G302R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5708595 TBL1XR1 c.798A>T p.K266N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5708598 TBL1XR1 c.688_690delTCT p.S230delS Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM5707255 TRIM28 c.778G>A p.V260M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5789495 ARID2 c.2921C>T p.P974L Substitution - Missense Breast COSM5834757 BRPF1 c.1029_1030delAG p.D344fs*1 Deletion - Frameshift Breast COSM5806320 SMARCA4 c.2625G>C p.W875C Substitution - Missense Liver COSM5821160 PRDM2 c.1448A>T p.H483L Substitution - Missense Liver COSM5894435 ING3 c.700C>T p.Q234* Substitution - Nonsense Skin COSM5959408 ZBTB38 c.788G>A p.C263Y Substitution - Missense Thyroid COSM5990383 KDM5C c.197C>T p.T66I Substitution - Missense Liver COSM6014530 KDM2A c.3436A>G p.I1146V Substitution - Missense Skin COSM5988494 HNF1A c.1297_1298insT p.T433fs*116 Insertion - Frameshift Liver COSM6014934 KMT2D c.708G>C p.G236G Substitution - coding silent Skin COSM4381097 KMT2C c.? p.G292E Substitution - Missense Breast COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM4167274 TET2 c.? p.T1463P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM69733 ASH1L c.584C>T p.T195I Substitution - Missense Ovary COSM4950840 SETDB1 c.119delT p.R41fs*21 Deletion - Frameshift Liver COSM3656857 TAF1L c.2338G>A p.D780N Substitution - Missense Skin COSM3680133 SUZ12 c.153T>G p.S51R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1386953 CBX8 c.215G>A p.R72H Substitution - Missense Skin COSM738973 BRD9 c.151G>T p.D51Y Substitution - Missense Lung COSM2866584 TRRAP c.3678A>T p.R1226S Substitution - Missense Large_intestine COSM1009563 HAT1 c.554T>G p.F185C Substitution - Missense Endometrium COSM4139020 PHF2 c.2946G>C p.T982T Substitution - coding silent Thyroid COSM3740297 BRWD1 c.821C>A p.T274K Substitution - Missense Liver COSM4736771 TRRAP c.2889G>A p.A963A Substitution - coding silent Large_intestine COSM88634 PHF3 c.5488G>C p.G1830R Substitution - Missense Ovary COSM1346868 PWWP2B c.857C>T p.P286L Substitution - Missense Large_intestine COSM299326 MBD5 c.1695C>A p.I565I Substitution - coding silent Large_intestine COSM4015928 KAT6B c.5011G>A p.G1671S Substitution - Missense Stomach COSM4777506 CREBBP c.220C>G p.L74V Substitution - Missense Breast COSM5722439 SETD1A c.1109A>T p.Y370F Substitution - Missense Skin COSM5736453 SP140_ENST00000392045 c.1715C>T p.S572L Substitution - Missense Small_intestine COSM5739583 ATF7IP c.3472A>G p.T1158A Substitution - Missense Small_intestine COSM82020 BAZ2B c.1287C>A p.S429S Substitution - coding silent Ovary COSM4032947 PHF21A c.467T>A p.I156N Substitution - Missense Stomach COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM4746236 PHF21A c.1544C>A p.A515E Substitution - Missense Central_nervous_system COSM1411114 DNMT3B c.263C>T p.P88L Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM245909 MYST1 c.293G>A p.R98Q Substitution - Missense Prostate COSM245196 KDM5A c.744T>A p.V248V Substitution - coding silent Prostate COSM4826173 MUM1 c.707C>T p.S236L Substitution - Missense Cervix COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM133131 DNMT3A c.2254T>C p.F752L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4760395 TRIM33 c.701G>A p.G234E Substitution - Missense Stomach COSM2112499 SIRT3 c.1033C>T p.R345W Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM3423649 CHD6 c.6214C>T p.R2072* Substitution - Nonsense Large_intestine COSM4651325 BAHCC1 c.7510G>A p.G2504S Substitution - Missense Large_intestine COSM1238792 EPC1 c.1579C>T p.R527W Substitution - Missense Large_intestine COSM721477 SMEK2 c.1662G>C p.L554F Substitution - Missense Lung COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1670134 SETD2 c.3349A>C p.K1117Q Substitution - Missense Large_intestine COSM5753362 PBRM1 c.? p.?fs*? Frameshift Kidney COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4002022 BRWD1 c.247C>G p.Q83E Substitution - Missense Breast COSM3403485 AP001011.3_ENST00000320876 c.1575A>C p.K525N Substitution - Missense Central_nervous_system COSM248487 ZMYM3 c.2548A>G p.M850V Substitution - Missense Prostate COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4966549 HCFC1 c.1958T>C p.I653T Substitution - Missense Prostate COSM5771699 BPTF c.7401C>G p.I2467M Substitution - Missense Breast COSM961507 MGA c.3157C>T p.R1053* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4161064 RING1 c.583G>A p.A195T Substitution - Missense Thyroid COSM3749702 ACTR5 c.18C>T p.F6F Substitution - coding silent Large_intestine COSM5468479 PRMT1 c.324_326delCAA p.N109delN Deletion - In frame Large_intestine COSM4085878 BAZ2B c.6267A>G p.V2089V Substitution - coding silent Stomach COSM4573487 PWWP2B c.1126G>A p.G376R Substitution - Missense Bone COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1630066 NCOR1 c.515C>T p.S172L Substitution - Missense Upper_aerodigestive_tract COSM4787742 CHD7 c.1591C>A p.H531N Substitution - Missense Liver COSM1394639 KDM4B c.1474C>A p.P492T Substitution - Missense Large_intestine COSM4109802 HDAC6 c.1531A>G p.M511V Substitution - Missense Stomach COSM3632985 SND1 c.722C>T p.P241L Substitution - Missense Skin COSM274120 BAZ2A_ENST00000379441 c.4606C>T p.R1536W Substitution - Missense Large_intestine COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5723832 PRDM1 c.1618G>A p.E540K Substitution - Missense Skin COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4611398 ZMYM2 c.3124delA p.K1044fs*33 Deletion - Frameshift Large_intestine COSM1732077 PBRM1 c.3883delA p.I1295fs*18 Deletion - Frameshift Kidney COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM222201 TRIM66 c.2420C>T p.S807F Substitution - Missense Skin COSM937174 EP400 c.6063+2T>C p.? Unknown Endometrium COSM1108223 TAF1L c.4119G>T p.K1373N Substitution - Missense Endometrium COSM923590 KMT2A c.7135C>T p.R2379* Substitution - Nonsense Endometrium COSM1309523 MINA c.1025C>T p.S342F Substitution - Missense Urinary_tract COSM5602844 ARID1B c.5868C>T p.I1956I Substitution - coding silent Skin COSM5063278 CHD7 c.6194G>A p.R2065H Substitution - Missense Stomach COSM238858 ASH1L c.3157C>T p.R1053C Substitution - Missense Prostate COSM4035257 MEN1 c.710C>T p.A237V Substitution - Missense Stomach COSM43467 TET2 c.2827C>T p.Q943* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM290487 L3MBTL4 c.172T>G p.L58V Substitution - Missense Large_intestine COSM4417122 PHF2 c.789+6C>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1737546 TET2 c.5077T>G p.Y1693D Substitution - Missense Central_nervous_system COSM4022239 POGZ c.2355T>G p.A785A Substitution - coding silent Stomach COSM3525847 SETBP1 c.426C>T p.S142S Substitution - coding silent Skin COSM1378951 CTCF c.1390G>A p.E464K Substitution - Missense Large_intestine COSM3460970 ARID2 c.2761C>T p.P921S Substitution - Missense Skin COSM979875 HDAC5 c.604G>A p.G202S Substitution - Missense Endometrium COSM6017924 NCOA3 c.3992C>T p.P1331L Substitution - Missense Skin COSM5687967 WHSC1 c.580A>C p.S194R Substitution - Missense Soft_tissue COSM5711637 KDM6A c.414G>T p.L138F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1201019 CHD9 c.5381G>A p.R1794H Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1681633 NCOA6 c.2707A>C p.N903H Substitution - Missense Large_intestine COSM361334 PRDM16 c.1679C>A p.S560Y Substitution - Missense Lung COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4383935 TET2 c.4072T>C p.C1358R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2735201 MORF4L2 c.271A>G p.T91A Substitution - Missense Central_nervous_system COSM1041699 FXR1 c.1421G>A p.S474N Substitution - Missense Endometrium COSM4060718 CREBBP c.1187C>T p.T396M Substitution - Missense Stomach COSM2235456 ARID1A c.2291delC p.Q766fs*67 Deletion - Frameshift Central_nervous_system COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM703031 CREBBP c.3893A>G p.Y1298C Substitution - Missense Stomach COSM215429 SIRT1 c.1945C>T p.R649C Substitution - Missense Endometrium COSM1155824 ASXL1 c.1992_1993insC p.S665fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4772298 ZMYM4 c.2227C>T p.R743W Substitution - Missense Stomach COSM2813533 SMARCA4 c.1259T>C p.V420A Substitution - Missense Large_intestine COSM1361822 HDAC7 c.2476C>A p.Q826K Substitution - Missense Large_intestine COSM1190738 BAP1 c.102_111del10 p.D34fs*35 Deletion - Frameshift Lung COSM401231 MEN1 c.1813C>A p.R605R Substitution - coding silent Lung COSM4817970 KDM3B c.4412-1G>C p.? Unknown Cervix COSM4613219 EPC1 c.757delA p.R253fs*12 Deletion - Frameshift Large_intestine COSM404762 KDM5C c.1546G>C p.E516Q Substitution - Missense Lung COSM2801154 PHF12 c.2955C>T p.A985A Substitution - coding silent Upper_aerodigestive_tract COSM896925 ASH1L c.4477C>T p.R1493C Substitution - Missense Endometrium COSM3858417 EYA4 c.1620T>C p.S540S Substitution - coding silent Stomach COSM4387151 SETD1B c.727G>A p.G243S Substitution - Missense Lung COSM4702490 KMT2C c.10298A>G p.Q3433R Substitution - Missense Large_intestine COSM110727 BAP1 c.915_916insT p.E306fs*1 Insertion - Frameshift Eye COSM120176 TET2 c.3813C>G p.C1271W Substitution - Missense Bone COSM25184 CHD9 c.2680C>G p.Q894E Substitution - Missense Lung COSM703030 CREBBP c.3419G>A p.R1140Q Substitution - Missense Lung COSM3733671 NSD1 c.6431C>T p.A2144V Substitution - Missense Pancreas COSM88738 CREBBP c.4337G>T p.R1446L Substitution - Missense Central_nervous_system COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM168089 KMT2D c.6251delC p.P2084fs*30 Deletion - Frameshift Skin COSM4845260 ATRX c.2075C>T p.S692L Substitution - Missense Cervix COSM4723963 SCMH1 c.683G>A p.R228H Substitution - Missense Large_intestine COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM327788 DHX30 c.2060G>A p.R687H Substitution - Missense Skin COSM468037 EP400 c.8226A>G p.Q2742Q Substitution - coding silent Endometrium COSM3515944 SUZ12 c.681C>T p.F227F Substitution - coding silent Skin COSM3627946 TDRD6 c.471C>T p.F157F Substitution - coding silent Skin COSM3649297 MYST3 c.3586C>T p.P1196S Substitution - Missense Skin COSM5945851 IDH1 c.940C>T p.R314C Substitution - Missense Central_nervous_system COSM1197648 JARID2 c.1649G>T p.G550V Substitution - Missense Lung COSM144567 PHF6 c.820C>T p.R274* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1188796 BAZ1A c.58C>G p.P20A Substitution - Missense Lung COSM4564962 PRDM10 c.1565_1566CC>TT p.S522F Substitution - Missense Skin COSM713257 KDM4B c.1715G>T p.G572V Substitution - Missense Lung COSM1225671 SHPRH c.1536G>T p.K512N Substitution - Missense Large_intestine COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1615491 NCOA6 c.5963-2A>G p.? Unknown Liver COSM2195898 BAZ1A c.1808C>T p.T603I Substitution - Missense Upper_aerodigestive_tract COSM3474961 ASH1L c.5855C>T p.P1952L Substitution - Missense Skin COSM88739 CREBBP c.4349A>G p.Y1450C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4510691 BAHD1 c.845C>T p.P282L Substitution - Missense Skin COSM4787953 KMT2D c.4818C>A p.D1606E Substitution - Missense Liver COSM22610 MEN1 c.210_225del16 p.D70fs*44 Deletion - Frameshift Pancreas COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5493813 DNMT1 c.3128A>G p.Y1043C Substitution - Missense Biliary_tract COSM221066 KMT2D c.15484C>T p.R5162W Substitution - Missense Oesophagus COSM3946874 KDM3B c.703G>A p.E235K Substitution - Missense Lung COSM3365365 BAP1 c.326G>T p.G109V Substitution - Missense Kidney COSM5791631 JHDM1D c.1554T>C p.N518N Substitution - coding silent Breast COSM4002197 TCF20 c.2164A>G p.S722G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4002747 PBRM1 c.3597A>T p.P1199P Substitution - coding silent Soft_tissue COSM1322501 ARID2 c.3817C>A p.R1273R Substitution - coding silent Ovary COSM34090 IDH2 c.516G>T p.R172S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5679954 ACTA1 c.704C>A p.S235Y Substitution - Missense Soft_tissue COSM4104154 CBX6 c.1136C>T p.T379M Substitution - Missense Stomach COSM3845464 BRWD3 c.3187T>G p.W1063G Substitution - Missense Breast COSM3761842 TCF19 c.722C>T p.P241L Substitution - Missense Biliary_tract COSM124454 KMT2D c.604G>A p.G202S Substitution - Missense Upper_aerodigestive_tract COSM4486475 WHSC1 c.3058C>T p.P1020S Substitution - Missense Skin COSM5503411 CHRAC1 c.143C>T p.A48V Substitution - Missense Biliary_tract COSM2965426 KDM6A c.2846G>T p.R949L Substitution - Missense Lung COSM1361192 KDM5A c.1943G>A p.R648Q Substitution - Missense Large_intestine COSM326648 TDRD1 c.2644A>T p.R882* Substitution - Nonsense Lung COSM366903 EP400 c.8290G>C p.A2764P Substitution - Missense Lung COSM4776223 PHF3 c.3711+3A>G p.? Unknown Soft_tissue COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1684498 SUZ12 c.2148_2154delCTCAAAA p.N716fs*>22 Deletion - Frameshift Central_nervous_system COSM3080143 ZCWPW1 c.960C>T p.I320I Substitution - coding silent Skin COSM1283532 ASH2L c.763G>T p.G255* Substitution - Nonsense Autonomic_ganglia COSM5567895 SMARCC2 c.801C>T p.S267S Substitution - coding silent Prostate COSM1716180 EZH2 c.? p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4514563 TP53BP1 c.964C>T p.P322S Substitution - Missense Skin COSM3550998 PRDM15 c.978C>T p.P326P Substitution - coding silent Skin COSM3842765 EP300 c.5748A>C p.P1916P Substitution - coding silent Breast COSM87191 TET2 c.5750G>A p.W1917* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4385707 ASXL1 c.4121_4122insG p.P1377fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5347075 ARID1A c.4839G>A p.M1613I Substitution - Missense Endometrium COSM1421143 FXR1 c.1153G>A p.G385R Substitution - Missense Large_intestine COSM4685914 FXR1 c.975A>G p.K325K Substitution - coding silent Large_intestine COSM5404106 PRDM1 c.1618G>C p.E540Q Substitution - Missense Skin COSM3554886 EP300 c.2599C>T p.P867S Substitution - Missense Skin COSM2823445 SMYD1 c.120C>T p.S40S Substitution - coding silent Skin COSM52947 IDH2 c.? p.R172? Substitution - Missense Central_nervous_system COSM1192307 HDAC11 c.929G>A p.R310H Substitution - Missense Stomach COSM916611 SUV39H2 c.563C>T p.T188I Substitution - Missense Endometrium COSM211667 TET2 c.3699G>A p.W1233* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1424596 SFMBT1 c.1997A>C p.K666T Substitution - Missense Large_intestine COSM5547337 KDM6A c.980_981delTA p.Y328fs*35 Deletion - Frameshift Prostate COSM42075 TET2 c.3965T>C p.L1322P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1483848 ZGPAT c.226G>A p.D76N Substitution - Missense Cervix COSM1756622 PHF8 c.1038C>A p.A346A Substitution - coding silent Urinary_tract COSM4406540 KMT2D c.4065T>G p.G1355G Substitution - coding silent Pancreas COSM141062 MECOM c.2864G>A p.G955E Substitution - Missense Upper_aerodigestive_tract COSM314619 PWWP2B c.1128G>A p.G376G Substitution - coding silent Soft_tissue COSM4464922 SP110 c.1341C>T p.H447H Substitution - coding silent Skin COSM4950826 ARID1A c.1705G>A p.A569T Substitution - Missense Liver COSM549226 SMARCC2 c.3120T>C p.V1040V Substitution - coding silent Kidney COSM6007214 BRPF3 c.469G>A p.D157N Substitution - Missense Prostate COSM1618155 BRPF1 c.2101G>A p.E701K Substitution - Missense Liver COSM732827 PRDM5 c.1461G>T p.K487N Substitution - Missense Lung COSM5404293 NCOA7 c.457C>T p.Q153* Substitution - Nonsense Skin COSM3656881 TAF1L c.286G>A p.D96N Substitution - Missense Skin COSM5370942 JMJD1C c.6292C>T p.L2098F Substitution - Missense Skin COSM1440572 EYA4 c.306C>A p.P102P Substitution - coding silent Large_intestine COSM3976623 TDRD5 c.973-5G>T p.? Unknown Lung COSM385116 ATF7IP c.3136C>T p.Q1046* Substitution - Nonsense Urinary_tract COSM1673701 KMT2C c.10768A>C p.I3590L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4104561 TCF20 c.1498A>C p.N500H Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4080258 KDM4B c.449A>G p.N150S Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM51432 ARID1A c.6472C>T p.R2158* Substitution - Nonsense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM53311 IDH2 c.? p.R140W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5741885 CHD6 c.1968G>T p.L656F Substitution - Missense Small_intestine COSM1169603 PBRM1 c.4642_4642delA p.S1548fs*18 Deletion - Frameshift Kidney COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4092805 ATAD2B_ENST00000238789 c.2160T>C p.S720S Substitution - coding silent Stomach COSM4146005 MTA2 c.466G>T p.E156* Substitution - Nonsense Thyroid COSM4018347 KMT2A c.11146G>A p.G3716S Substitution - Missense Stomach COSM3412543 TRRAP c.6147C>T p.A2049A Substitution - coding silent Central_nervous_system COSM3558877 FMR1 c.1011C>T p.S337S Substitution - coding silent Skin COSM695869 MPHOSPH8 c.2055C>A p.L685L Substitution - coding silent Lung COSM3417980 PRDM2 c.4323G>A p.K1441K Substitution - coding silent Large_intestine COSM5914259 ASXL1 c.1888C>T p.H630Y Substitution - Missense Skin COSM4938389 SMARCA1 c.889A>T p.K297* Substitution - Nonsense Liver COSM4669582 CBX7 c.194G>A p.R65Q Substitution - Missense Large_intestine COSM5619141 HCFC1 c.4251G>T p.L1417L Substitution - coding silent Breast COSM4399807 PRDM2 c.459G>A p.E153E Substitution - coding silent Skin COSM235316 SCML2 c.675C>T p.F225F Substitution - coding silent Skin COSM5024900 KMT2D c.12917_12929del13 p.F4306fs*12 Deletion - Frameshift Breast COSM1163749 KMT2C c.4051delA p.R1351fs*23 Deletion - Frameshift Stomach COSM4643347 KIAA2026_ENST00000399933 c.2445A>T p.L815F Substitution - Missense Large_intestine COSM4940251 CHD4 c.3020C>T p.S1007F Substitution - Missense Liver COSM4990891 CREBBP c.1489C>T p.Q497* Substitution - Nonsense Skin COSM5031026 KDM6A c.? p.Q753* Substitution - Nonsense Central_nervous_system COSM5999680 PHRF1 c.3054T>C p.S1018S Substitution - coding silent Prostate COSM5910116 ZMYM3 c.2412G>A p.K804K Substitution - coding silent Skin COSM145999 TDRD1 c.195C>A p.N65K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1045692 DHX30 c.1966A>G p.T656A Substitution - Missense Endometrium COSM4092260 SP140_ENST00000392045 c.1614C>T p.N538N Substitution - coding silent Prostate COSM5944950 DNMT3A c.1784T>C p.L595P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3461191 HDAC7 c.2191C>T p.R731C Substitution - Missense Skin COSM3679906 CREBBP c.2705C>T p.T902I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM28779 KDM6A c.2029C>T p.Q677* Substitution - Nonsense Lung COSM85991 ATRX c.5567-3C>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51445 ARID1A c.4709_4712delCTAA p.N1571fs*40 Deletion - Frameshift Ovary COSM86081 KMT2C c.2467_2468insA p.I823fs*5 Insertion - Frameshift Breast COSM98266 ASH1L c.2771C>G p.S924C Substitution - Missense Upper_aerodigestive_tract COSM137537 NCOA4 c.799T>C p.S267P Substitution - Missense Skin COSM220994 GTF3C1 c.1214G>A p.R405Q Substitution - Missense Endometrium COSM165984 ATAD2 c.2764_2765insT p.Q922fs*5 Insertion - Frameshift Breast COSM217035 ARID1A c.1169_1170insT p.M390fs*10 Insertion - Frameshift Liver COSM255880 TRRAP c.3682G>A p.E1228K Substitution - Missense Central_nervous_system COSM293686 SP140_ENST00000392045 c.2008delA p.K672fs*4 Deletion - Frameshift Stomach COSM316443 UTY c.1979G>T p.G660V Substitution - Missense Lung COSM309265 ARID1B c.3679G>T p.D1227Y Substitution - Missense Soft_tissue COSM315771 TAF1 c.3881C>T p.A1294V Substitution - Missense Lung COSM303848 CREBBP c.5367C>A p.N1789K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM327313 PHF6 c.346C>T p.R116* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM348857 TDRD3 c.1723G>A p.A575T Substitution - Missense Large_intestine COSM359758 EP300 c.2707G>T p.A903S Substitution - Missense Lung COSM447362 PHF17 c.307G>A p.E103K Substitution - Missense Breast COSM460130 RERE c.3517G>A p.E1173K Substitution - Missense Urinary_tract COSM472551 SUZ12 c.667A>T p.K223* Substitution - Nonsense Kidney COSM483941 DAXX c.1353G>A p.E451E Substitution - coding silent Stomach COSM480297 BAP1 c.3G>A p.M1I Substitution - Missense Kidney COSM689608 GLYATL1 c.874C>T p.P292S Substitution - Missense Lung COSM693898 ARID2 c.4591C>T p.P1531S Substitution - Missense Lung COSM702071 CHD2 c.1797C>G p.L599L Substitution - coding silent Lung COSM697492 PRMT5 c.1006C>T p.Q336* Substitution - Nonsense Urinary_tract COSM731080 PBRM1 c.2998C>G p.R1000G Substitution - Missense Lung COSM740716 SHPRH c.2290G>T p.E764* Substitution - Nonsense Lung COSM911673 PHF13 c.338C>T p.T113M Substitution - Missense Endometrium COSM931217 SUV420H1 c.676T>G p.L226V Substitution - Missense Endometrium COSM910003 DMAP1 c.1344+1_1344+2insT p.? Unknown Endometrium COSM895731 VPS72 c.762C>T p.P254P Substitution - coding silent Endometrium COSM945797 ZMYM5 c.418G>A p.E140K Substitution - Missense Endometrium COSM1043487 ZCWPW2 c.465C>T p.F155F Substitution - coding silent Endometrium COSM1072312 HDAC2 c.884C>T p.P295L Substitution - Missense Endometrium COSM1034771 TCF20 c.2163C>T p.V721V Substitution - coding silent Skin COSM1241723 SETDB1 c.3281C>G p.S1094C Substitution - Missense Oesophagus COSM1228424 TAF1L c.5437C>A p.L1813I Substitution - Missense Large_intestine COSM1198590 C20orf20 c.316G>A p.V106I Substitution - Missense Large_intestine COSM1583147 DNMT3A c.2526G>T p.Q842H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1179848 KDM6A c.3111G>A p.Q1037Q Substitution - coding silent Prostate COSM1606204 KMT2D c.9538_9539insA p.M3180fs*18 Insertion - Frameshift Liver COSM1315996 KDM6A c.2529C>A p.S843R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1437262 NIPBL c.1801delA p.K603fs*11 Deletion - Frameshift Large_intestine COSM1447864 SND1 c.1535delA p.A514fs*156 Deletion - Frameshift Large_intestine COSM1462642 KIAA2026_ENST00000399933 c.4241C>T p.S1414L Substitution - Missense Large_intestine COSM1444900 TDRD6 c.3624T>G p.I1208M Substitution - Missense Large_intestine COSM1352571 PRDM10 c.1210C>T p.R404W Substitution - Missense Large_intestine COSM1342904 KDM4A c.676delT p.F227fs*16 Deletion - Frameshift Large_intestine COSM1618138 SETD5_ENST00000402198 c.3409A>G p.M1137V Substitution - Missense Liver COSM1580622 BTAF1 c.2083C>G p.P695A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1687291 EYA3 c.578C>T p.S193L Substitution - Missense Skin COSM1716627 ATRX c.1074delA p.K358fs*2 Deletion - Frameshift Central_nervous_system COSM1735817 ATRX c.818_819insT p.L273fs*9 Insertion - Frameshift Central_nervous_system COSM1731937 ARID1B c.165_166insCAG p.Q73_H74insQ Insertion - In frame Large_intestine COSM1724237 PRMT8 c.91T>C p.S31P Substitution - Missense Prostate COSM2006970 KMT2D c.8579C>T p.S2860F Substitution - Missense Oesophagus COSM2019037 RSF1 c.3862G>A p.E1288K Substitution - Missense Upper_aerodigestive_tract COSM2151015 ATRX c.529C>T p.Q177* Substitution - Nonsense Central_nervous_system COSM2251508 SMEK1 c.318C>T p.S106S Substitution - coding silent Stomach COSM2828730 SETD5_ENST00000402198 c.261A>G p.E87E Substitution - coding silent Upper_aerodigestive_tract COSM2828731 SETD5_ENST00000402198 c.267A>T p.V89V Substitution - coding silent Upper_aerodigestive_tract COSM2909154 HDAC4 c.1197C>A p.T399T Substitution - coding silent Large_intestine COSM3075961 BRPF3 c.742T>G p.Y248D Substitution - Missense Large_intestine COSM3144753 L3MBTL4 c.1049C>T p.P350L Substitution - Missense Large_intestine COSM3296117 MBD5 c.1120G>A p.V374I Substitution - Missense Upper_aerodigestive_tract COSM3338189 ING2 c.514G>T p.D172Y Substitution - Missense Bone COSM3369596 ACTA1 c.1049C>G p.S350W Substitution - Missense Thyroid COSM3402226 GTF3C1 c.1294G>A p.V432M Substitution - Missense Biliary_tract COSM3473719 TDRKH c.733G>A p.E245K Substitution - Missense Skin COSM3624651 BAG6 c.1586C>A p.A529D Substitution - Missense Skin COSM3627959 TDRD6 c.3797C>T p.P1266L Substitution - Missense Skin COSM3568264 BAZ2B c.2469A>G p.G823G Substitution - coding silent Skin COSM3663071 HDAC9 c.2701G>A p.V901M Substitution - Missense Liver COSM3655145 GTF3C4 c.2275C>T p.R759C Substitution - Missense Skin COSM3714558 DHX30 c.3564G>T p.V1188V Substitution - coding silent Upper_aerodigestive_tract COSM3765625 SETD1B c.1485G>A p.A495A Substitution - coding silent Liver COSM3821294 AP001011.3_ENST00000320876 c.1892T>G p.F631C Substitution - Missense Breast COSM3832342 KMT2C c.9451C>T p.Q3151* Substitution - Nonsense Breast COSM3883706 TRRAP c.2222A>T p.N741I Substitution - Missense Stomach COSM3945923 PRDM5 c.685G>T p.E229* Substitution - Nonsense Lung COSM3972386 SMYD1 c.678C>G p.S226S Substitution - coding silent Central_nervous_system COSM4023035 ASH1L c.8844G>A p.R2948R Substitution - coding silent Stomach COSM4094352 CAMKMT c.927A>C p.E309D Substitution - Missense Stomach COSM4107959 HCFC1 c.4449C>T p.S1483S Substitution - coding silent Stomach COSM4100183 DIDO1 c.4449C>T p.N1483N Substitution - coding silent Stomach COSM4074038 SMARCA4 c.2343G>T p.M781I Substitution - Missense Stomach COSM4064267 SMYD4 c.1749C>T p.A583A Substitution - coding silent Stomach COSM4129609 NCOR1 c.568C>T p.R190* Substitution - Nonsense Upper_aerodigestive_tract COSM4131006 CXXC1 c.1819C>T p.R607C Substitution - Missense Thyroid COSM4152800 PRMT8 c.263A>T p.E88V Substitution - Missense Kidney COSM4161998 KMT2C c.2726G>A p.R909K Substitution - Missense Upper_aerodigestive_tract COSM4168124 TDRD6 c.863G>A p.R288Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4169795 TET2 c.3535_3536delAG p.R1179fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4170026 TET2 c.4129T>A p.F1377I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384310 KMT2C c.10538C>T p.P3513L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384750 KMT2D c.2690C>T p.P897L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4424777 BRWD1 c.6069G>T p.M2023I Substitution - Missense Oesophagus COSM4487967 SETBP1 c.3250C>T p.P1084S Substitution - Missense Skin COSM4665018 BAG6 c.2424G>A p.G808G Substitution - coding silent Large_intestine COSM4712695 PCGF2 c.69_70insG p.Y24fs*34 Insertion - Frameshift Large_intestine COSM4631247 TRRAP c.4988G>A p.R1663H Substitution - Missense Large_intestine COSM4629874 PRDM4 c.2147A>T p.H716L Substitution - Missense Breast COSM4747170 CXXC1 c.1228delC p.Q410fs*217 Deletion - Frameshift Stomach COSM4755860 SMARCC2 c.1889G>C p.R630P Substitution - Missense Stomach COSM4935591 DNMT1 c.3368A>C p.Q1123P Substitution - Missense Liver COSM4842304 EZH2 c.1494G>A p.K498K Substitution - coding silent Cervix COSM4842491 WHSC1 c.988G>T p.E330* Substitution - Nonsense Cervix COSM4957813 HCFC1 c.5341A>T p.S1781C Substitution - Missense Liver COSM4989160 KMT2C c.8312G>A p.S2771N Substitution - Missense Soft_tissue COSM5031987 TRRAP c.9187G>T p.V3063F Substitution - Missense Pancreas COSM4971731 CHD4 c.4148-11_4148-9delTCT p.? Unknown Central_nervous_system COSM5013064 SMYD4 c.410A>G p.Y137C Substitution - Missense Kidney COSM5064453 FMR1 c.568C>T p.R190W Substitution - Missense Stomach COSM5152578 ACTB c.229A>T p.T77S Substitution - Missense Large_intestine COSM5049205 PHF3 c.3358A>G p.I1120V Substitution - Missense Oesophagus COSM5388251 MBD2 c.766G>C p.V256L Substitution - Missense Skin COSM5413024 ZMYM3 c.3276T>C p.F1092F Substitution - coding silent Skin COSM5407253 STK31 c.1578G>A p.W526* Substitution - Nonsense Skin COSM5461936 TRIM33 c.833T>C p.V278A Substitution - Missense Large_intestine COSM5419918 CHD4 c.3030T>C p.N1010N Substitution - coding silent Pancreas COSM5770094 KMT2C c.12666G>A p.K4222K Substitution - coding silent Breast COSM5728206 KIAA2026_ENST00000399933 c.2451A>G p.E817E Substitution - coding silent Skin COSM5745573 PRDM2 c.2663T>C p.L888P Substitution - Missense Pancreas COSM5719460 RBBP5 c.736C>T p.Q246* Substitution - Nonsense Skin COSM5736060 SMEK2 c.263C>T p.A88V Substitution - Missense Small_intestine COSM5716293 ATAD2 c.3457C>T p.P1153S Substitution - Missense Skin COSM5716641 L3MBTL3 c.499C>T p.P167S Substitution - Missense Skin COSM5605554 ATF2 c.409C>T p.P137S Substitution - Missense Lung COSM5611044 TRRAP c.3310G>A p.E1104K Substitution - Missense Skin COSM5561057 SFMBT1 c.1338C>T p.N446N Substitution - coding silent Prostate COSM5823610 ARID1A c.4990A>T p.I1664F Substitution - Missense Liver COSM5882106 MTA2 c.694-1G>T p.? Unknown Breast COSM5945902 IDH1 c.101A>G p.Y34C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5886932 SETD1A c.569C>T p.P190L Substitution - Missense Skin COSM5945934 ARID1A c.2218T>C p.S740P Substitution - Missense Skin COSM5986917 ATXN7 c.2437G>T p.E813* Substitution - Nonsense Salivary_gland COSM6006478 RERE c.1621G>A p.E541K Substitution - Missense Prostate COSM85769 EZH2 c.? p.Y646? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM166348 DNMT3A c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5415909 TET2 c.? p.C834Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1666672 SETBP1 c.? p.E858K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1666676 SETBP1 c.? p.I871T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM86077 IDH2 c.? p.R172M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144180 EZH2 c.? p.E549* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM389183 CHD9 c.4028G>T p.G1343V Substitution - Missense Lung COSM1466201 FMR1 c.1374A>G p.E458E Substitution - coding silent Large_intestine COSM5740622 SRCAP c.8381G>A p.R2794H Substitution - Missense Small_intestine COSM3841956 PRDM15 c.1597G>C p.D533H Substitution - Missense Breast COSM122851 EP300 c.4195G>A p.D1399N Substitution - Missense Upper_aerodigestive_tract COSM132892 TET2 c.949C>T p.Q317* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM22633 MEN1 c.405delG p.D136fs*49 Deletion - Frameshift Parathyroid COSM5760873 EP400 c.4468A>C p.T1490P Substitution - Missense Pancreas COSM740190 L3MBTL3 c.1176G>T p.T392T Substitution - coding silent Lung COSM86082 KMT2C c.2418C>G p.S806S Substitution - coding silent Soft_tissue COSM4579031 CREBBP c.5439C>T p.N1813N Substitution - coding silent Bone COSM5628922 AP001011.3_ENST00000320876 c.3374A>T p.Q1125L Substitution - Missense Oesophagus COSM914355 ASXL1 c.? p.Q748* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5492664 KAT6B c.2914delA p.T973fs*13 Deletion - Frameshift Biliary_tract COSM5950772 CHD7 c.5534+2T>G p.? Unknown Prostate COSM5958956 ZBTB4 c.1630_1631insG p.T544fs*79 Insertion - Frameshift Thyroid COSM4385509 PHF6 c.719A>G p.Y240C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4601855 SMC1A c.421G>C p.E141Q Substitution - Missense Upper_aerodigestive_tract COSM5672669 AP001011.3_ENST00000320876 c.1941G>A p.E647E Substitution - coding silent Soft_tissue COSM4384614 KMT2A c.9037G>C p.E3013Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4018345 KMT2A c.10871C>T p.A3624V Substitution - Missense Stomach COSM249560 KMT2C c.5053G>T p.A1685S Substitution - Missense Prostate COSM85250 FMR1 c.1848G>T p.E616D Substitution - Missense Pancreas COSM5427493 PHF6 c.785A>T p.D262V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5387631 BAHCC1 c.5456G>A p.G1819D Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM1076388 KDM1B c.1639T>C p.Y547H Substitution - Missense Endometrium COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Skin COSM1226797 SMARCD2 c.293C>T p.P98L Substitution - Missense Large_intestine COSM5009814 EP300 c.3087G>A p.Q1029Q Substitution - coding silent Large_intestine COSM41846 TET2 c.? p.R544* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM608350 TAF1L c.2053C>T p.R685C Substitution - Missense Central_nervous_system COSM4767428 ARID2 c.310C>A p.H104N Substitution - Missense Biliary_tract COSM3730445 BAZ2B c.4512A>G p.G1504G Substitution - coding silent Stomach COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Biliary_tract COSM4694942 KDM3B c.2369C>T p.P790L Substitution - Missense Large_intestine COSM939524 ARID2 c.4993G>T p.G1665W Substitution - Missense Endometrium COSM4586405 ARID1B c.3165C>T p.V1055V Substitution - coding silent Bone COSM1722309 MYST3 c.5079A>C p.P1693P Substitution - coding silent Skin COSM403990 ATRX c.979G>T p.E327* Substitution - Nonsense Lung COSM5708976 TET2 c.5669A>G p.N1890S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1366024 RNF17 c.324G>T p.K108N Substitution - Missense Large_intestine COSM5495635 DNMT3B c.1127-2A>G p.? Unknown Biliary_tract COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM998 SMARCB1 c.1121G>A p.R374Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM938872 PRMT8 c.757G>A p.V253M Substitution - Missense Large_intestine COSM133138 DNMT3A c.2729C>T p.A910V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM5818668 TIF1 c.2757A>G p.Q919Q Substitution - coding silent Liver COSM4732665 TCF20 c.5415delG p.L1806fs*76 Deletion - Frameshift Large_intestine COSM1706557 RNF17 c.1762G>A p.E588K Substitution - Missense Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Biliary_tract COSM292408 GTF3C4 c.1560G>A p.E520E Substitution - coding silent Large_intestine COSM2161559 SFMBT2 c.64C>T p.L22F Substitution - Missense Large_intestine COSM4672010 CHD4 c.2410G>A p.V804I Substitution - Missense Large_intestine COSM1023486 KDM3A c.366A>C p.K122N Substitution - Missense Endometrium COSM3997843 MGMT c.250C>T p.L84F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3471964 TTF2 c.2073C>T p.I691I Substitution - coding silent Skin COSM4404266 EYA4 c.639C>T p.S213S Substitution - coding silent Skin COSM3812093 HDAC7 c.531C>G p.L177L Substitution - coding silent Breast COSM3799674 PCNA c.427G>A p.E143K Substitution - Missense Urinary_tract COSM1177648 SFMBT2 c.428C>T p.P143L Substitution - Missense Endometrium COSM990456 DNMT1 c.1073A>G p.Q358R Substitution - Missense Endometrium COSM5606329 ASH1L c.155G>A p.R52Q Substitution - Missense Skin COSM3924321 TRRAP c.11090C>T p.P3697L Substitution - Missense Skin COSM1301781 JMJD5 c.168C>T p.F56F Substitution - coding silent Urinary_tract COSM3495052 PRMT5 c.1124C>T p.S375F Substitution - Missense Skin COSM1718106 ATF7IP c.3398_3399CC>TT p.P1133L Substitution - Missense Skin COSM1088195 HDAC9 c.2789A>C p.K930T Substitution - Missense Endometrium COSM4608252 RBBP5 c.1083G>T p.E361D Substitution - Missense Adrenal_gland COSM1622163 MLL5 c.1030A>G p.K344E Substitution - Missense Liver COSM1705806 SMARCC2 c.734C>T p.T245I Substitution - Missense Skin COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1184881 BRD1 c.2003G>A p.R668H Substitution - Missense Large_intestine COSM3979875 ASH1L c.2092G>A p.E698K Substitution - Missense Ovary COSM3366541 TDRD6 c.3823A>C p.T1275P Substitution - Missense Kidney COSM3360597 RBBP5 c.63G>C p.L21F Substitution - Missense Kidney COSM1667915 SETDB1 c.796G>A p.A266T Substitution - Missense Large_intestine COSM71281 KDM5A c.3685C>T p.L1229F Substitution - Missense Ovary COSM5450240 PHF1 c.470C>T p.A157V Substitution - Missense Large_intestine COSM6009225 MEAF6 c.265T>C p.F89L Substitution - Missense Skin COSM198362 BRDT c.2045C>T p.P682L Substitution - Missense Skin COSM4515013 L3MBTL3 c.994C>T p.P332S Substitution - Missense Skin COSM1756919 JMJD5 c.799-2A>G p.? Unknown Urinary_tract COSM3294320 NCOA5 c.1434G>T p.Q478H Substitution - Missense Large_intestine COSM1302171 PRMT7 c.1684G>C p.E562Q Substitution - Missense Urinary_tract COSM1463732 PHF2 c.1774C>T p.R592* Substitution - Nonsense Breast COSM3843076 MORF4L2 c.680A>C p.H227P Substitution - Missense Breast COSM144608 KMT2D c.4897C>T p.R1633* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4627801 ASXL1 c.2541C>A p.S847S Substitution - coding silent Large_intestine COSM32726 ATF2 c.1054G>C p.D352H Substitution - Missense Breast COSM3757070 KDM4B c.1080A>G p.A360A Substitution - coding silent Large_intestine COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Central_nervous_system COSM1212951 L3MBTL4 c.1788G>T p.K596N Substitution - Missense Large_intestine COSM4749930 SMARCA4 c.1183G>T p.D395Y Substitution - Missense Stomach COSM5731042 SETD2 c.3754delC p.L1252fs*13 Deletion - Frameshift Breast COSM81981 ACTR8 c.591T>A p.P197P Substitution - coding silent Ovary COSM4912318 BAHD1 c.2056T>A p.L686M Substitution - Missense Liver COSM3375458 EPC1 c.1569A>G p.S523S Substitution - coding silent Pancreas COSM457599 HDAC6 c.3318T>C p.A1106A Substitution - coding silent Breast COSM1166769 TET2 c.3720delG p.A1241fs*12 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1629700 MORF4L1 c.821A>G p.Y274C Substitution - Missense Liver COSM3874632 CDYL c.1566G>A p.Q522Q Substitution - coding silent Stomach COSM3970688 SMARCA4 c.2651A>G p.H884R Substitution - Missense Central_nervous_system COSM254814 KMT2A c.8647C>G p.L2883V Substitution - Missense Urinary_tract COSM1293707 SMCHD1 c.3558G>A p.A1186A Substitution - coding silent Cervix COSM1469490 ATRX c.890_892delAGA p.K297delK Deletion - In frame Large_intestine COSM6003918 CARM1 c.343A>G p.N115D Substitution - Missense Prostate COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5899130 CHD9 c.7531G>A p.E2511K Substitution - Missense Skin COSM5808901 ACTA1 c.499A>G p.I167V Substitution - Missense Liver COSM4959727 BMI1 c.761G>A p.G254E Substitution - Missense Liver COSM231578 TET2 c.1037T>C p.L346P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM367812 SMARCA1 c.619G>T p.A207S Substitution - Missense Lung COSM4566401 SP100 c.366_367GG>AA p.E123K Substitution - Missense Skin COSM3568257 BAZ2B c.3756C>T p.L1252L Substitution - coding silent Skin COSM3563671 BRWD3 c.4570T>C p.F1524L Substitution - Missense Skin COSM271384 MBD5 c.3014C>A p.A1005D Substitution - Missense Large_intestine COSM4807470 SFMBT2 c.883T>A p.L295M Substitution - Missense Pancreas COSM3698634 TRRAP c.10074C>T p.N3358N Substitution - coding silent Large_intestine COSM5748310 TAF1 c.4718A>G p.N1573S Substitution - Missense Pancreas COSM5374411 KDM2B c.166C>T p.Q56* Substitution - Nonsense Skin COSM380162 EPC2 c.1756C>T p.H586Y Substitution - Missense Lung COSM5652732 CXXC1 c.1576G>T p.A526S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3928239 PHF10 c.563A>G p.Y188C Substitution - Missense Central_nervous_system COSM1333447 PRDM2 c.834A>T p.E278D Substitution - Missense Biliary_tract COSM3661431 KDM3B c.2715C>T p.I905I Substitution - coding silent Liver COSM3401370 ARID4A c.3041A>G p.D1014G Substitution - Missense Central_nervous_system COSM52838 PBRM1 c.3553C>T p.R1185* Substitution - Nonsense Skin COSM21478 HNF1A c.618G>T p.W206C Substitution - Missense Liver COSM254667 EP300 c.4454A>T p.D1485V Substitution - Missense Urinary_tract COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43419 TET2 c.5570_5580del11 p.P1857fs*14 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34192 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM909901 KDM4A c.3073C>T p.R1025C Substitution - Missense Endometrium COSM5357520 TDRD6 c.5621C>T p.P1874L Substitution - Missense Large_intestine COSM4767416 ARID1A c.6563A>G p.Q2188R Substitution - Missense Biliary_tract COSM3689014 GATAD2B c.1116T>G p.P372P Substitution - coding silent Large_intestine COSM3637546 STK31 c.1686C>T p.V562V Substitution - coding silent Skin COSM4478477 SETDB1 c.2240C>T p.T747I Substitution - Missense Skin COSM1263754 RAG2 c.1516C>T p.R506C Substitution - Missense Oesophagus COSM73596 ADNP c.2068G>A p.V690I Substitution - Missense Ovary COSM1645192 ARID2 c.2543_2544insT p.A849fs*102 Insertion - Frameshift Liver COSM5644438 KMT2C c.11242G>A p.A3748T Substitution - Missense Oesophagus COSM1359417 HNF1A c.865delC p.P291fs*51 Deletion - Frameshift Breast COSM5652270 SETDB1 c.1450C>T p.R484W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4990244 KMT2D c.12253C>T p.P4085S Substitution - Missense Skin COSM1034562 EP300 c.4189T>G p.Y1397D Substitution - Missense Endometrium COSM5462420 UBR7 c.967T>C p.Y323H Substitution - Missense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM912515 RERE c.3574C>A p.R1192R Substitution - coding silent Endometrium COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1569293 TAF1L c.2617C>T p.R873C Substitution - Missense Large_intestine COSM447709 WHSC1 c.1289A>G p.D430G Substitution - Missense Breast COSM3296209 MBD5 c.3587A>G p.Q1196R Substitution - Missense Lung COSM5946083 KMT2D c.4067_4068insA p.E1357fs*1 Insertion - Frameshift Urinary_tract COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4591901 NCOR1 c.618+6T>A p.? Unknown Upper_aerodigestive_tract COSM1317666 PYGO2 c.1067G>C p.R356P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM431527 BAZ2A_ENST00000379441 c.5366G>A p.R1789Q Substitution - Missense Breast COSM3728748 ZBTB33 c.1407C>T p.S469S Substitution - coding silent Stomach COSM1047335 ACTR8 c.1797G>T p.Q599H Substitution - Missense Endometrium COSM399941 TBL1XR1 c.1019G>T p.R340I Substitution - Missense Lung COSM4383971 TET2 c.5642A>C p.H1881P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3578899 SP140_ENST00000392045 c.1340C>T p.S447L Substitution - Missense Skin COSM4613172 ELP3 c.910delT p.F305fs*11 Deletion - Frameshift Large_intestine COSM4655893 SETD5_ENST00000402198 c.1794A>G p.A598A Substitution - coding silent Large_intestine COSM4970101 CBX4 c.1014G>A p.P338P Substitution - coding silent Central_nervous_system COSM1606142 ARID2 c.3844G>C p.D1282H Substitution - Missense Liver COSM1241076 DHX30 c.1682T>C p.V561A Substitution - Missense Oesophagus COSM5358736 CHD7 c.6195C>T p.R2065R Substitution - coding silent Large_intestine COSM4160659 TCF19 c.860G>T p.G287V Substitution - Missense Thyroid COSM5067297 TDG c.613_615-3del201 p.? Unknown Large_intestine COSM1035231 BRD1 c.2317G>A p.E773K Substitution - Missense Endometrium COSM3525454 ASXL3 c.2171C>T p.S724F Substitution - Missense Skin COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4503188 BRD1 c.633C>T p.I211I Substitution - coding silent Skin COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM338129 SFMBT2 c.2064C>T p.P688P Substitution - coding silent Lung COSM390234 PRDM5 c.1807G>A p.E603K Substitution - Missense Urinary_tract COSM1716180 EZH2 c.? p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM255107 MEN1 c.182_183insG p.T62fs*55 Insertion - Frameshift Parathyroid COSM1734845 KDM5C c.1650G>T p.K550N Substitution - Missense Pancreas COSM5050562 KMT2A c.8961C>T p.G2987G Substitution - coding silent Stomach COSM4184874 KMT2A c.2632C>T p.R878W Substitution - Missense Large_intestine COSM163446 PHF20 c.541G>T p.E181* Substitution - Nonsense Breast COSM5916243 KMT2D c.14446C>T p.R4816* Substitution - Nonsense Skin COSM53123 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM369391 CHD9 c.112G>T p.E38* Substitution - Nonsense Lung COSM5456950 SP100 c.1948G>A p.G650R Substitution - Missense Large_intestine COSM5360958 SUV420H1 c.973G>A p.E325K Substitution - Missense Large_intestine COSM4891184 DAXX c.996C>G p.L332L Substitution - coding silent Upper_aerodigestive_tract COSM1265334 SETBP1 c.4010G>C p.S1337T Substitution - Missense Oesophagus COSM5599661 HDAC1 c.234C>T p.S78S Substitution - coding silent Skin COSM3705809 ZMYM4 c.1181A>G p.K394R Substitution - Missense Liver COSM1216526 MYST3 c.3893C>T p.P1298L Substitution - Missense Skin COSM1673965 EYA1 c.981G>A p.W327* Substitution - Nonsense Large_intestine COSM3511048 CTCF c.1650C>T p.F550F Substitution - coding silent Skin COSM5992567 PRDM16 c.2056A>C p.T686P Substitution - Missense Prostate COSM1719481 MECOM c.2543G>A p.R848Q Substitution - Missense Skin COSM1602148 ARID1A c.3972delC p.P1326fs*155 Deletion - Frameshift Pancreas COSM13871 ERCC6 c.3113G>C p.R1038T Substitution - Missense Breast COSM5052087 ZMYM2 c.4070G>A p.R1357Q Substitution - Missense Stomach COSM5823219 MORF4L2 c.541G>A p.E181K Substitution - Missense Liver COSM3411944 STK31 c.2597A>G p.E866G Substitution - Missense Central_nervous_system COSM1413179 ZGPAT c.81C>T p.G27G Substitution - coding silent Large_intestine COSM78295 PHC1 c.301G>A p.A101T Substitution - Missense Ovary COSM383779 TAF3 c.1895A>C p.K632T Substitution - Missense Lung COSM2834879 CHD9 c.4093A>G p.M1365V Substitution - Missense Large_intestine COSM4446224 ING4 c.708-3C>T p.? Unknown Skin COSM317025 ASH1L c.7699G>A p.V2567I Substitution - Missense Soft_tissue COSM85990 ATRX c.7049_7049delT p.E2351fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1989225 MBD6 c.1006delC p.P337fs*40 Deletion - Frameshift Large_intestine COSM309530 BRPF3 c.3330C>T p.P1110P Substitution - coding silent Lung COSM5705618 YY1 c.898C>T p.H300Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3614512 NSD1 c.5448G>A p.M1816I Substitution - Missense Skin COSM1209393 HDAC7 c.188A>G p.E63G Substitution - Missense Large_intestine COSM1471488 BRD1 c.3112C>T p.R1038C Substitution - Missense Prostate COSM1377018 GTF3C1 c.5619C>T p.T1873T Substitution - coding silent Stomach COSM3815405 ALKBH1 c.133G>A p.D45N Substitution - Missense Breast COSM5088906 SETBP1 c.161G>A p.R54H Substitution - Missense Large_intestine COSM685413 SFMBT2 c.427C>T p.P143S Substitution - Missense Lung COSM1084068 PHF14 c.1885C>T p.R629C Substitution - Missense Endometrium COSM231568 DNMT3A c.2578T>C p.W860R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2183627 POGZ c.1505G>A p.R502K Substitution - Missense Large_intestine COSM1083676 MLL5 c.2416G>T p.E806* Substitution - Nonsense Endometrium COSM219099 TET2 c.? p.Y1645* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4169591 EZH2 c.? p.H694R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3625668 RING1 c.342G>A p.R114R Substitution - coding silent Skin COSM1412150 NCOA5 c.1275delC p.T426fs*19 Deletion - Frameshift Liver COSM95735 TDG c.479-1G>C p.? Unknown Lung COSM5709441 LMNB1 c.1090C>T p.L364F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5716812 KMT2A c.16C>T p.R6W Substitution - Missense Skin COSM251400 ARID1A c.3424C>T p.Q1142* Substitution - Nonsense Liver COSM225881 KMT2C c.3931A>G p.I1311V Substitution - Missense Skin COSM5754842 SRCAP c.7723T>A p.S2575T Substitution - Missense Large_intestine COSM920203 SFMBT2 c.285G>A p.T95T Substitution - coding silent Endometrium COSM2773698 KIAA1045 c.326G>A p.R109Q Substitution - Missense Breast COSM84917 CHD1 c.4734T>G p.S1578S Substitution - coding silent Pancreas COSM461646 KMT2C c.10632C>T p.F3544F Substitution - coding silent Cervix COSM1221872 PRDM13 c.1817G>A p.C606Y Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3969119 TP53BP1 c.3820G>T p.E1274* Substitution - Nonsense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3642826 TRRAP c.9054C>T p.I3018I Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1583127 DNMT3A c.2587G>A p.E863K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5366161 NCOA5 c.584A>T p.E195V Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4400225 AKAP1 c.449C>T p.S150L Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3835244 TDRD7 c.1426A>T p.N476Y Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1136737 KDM3A c.1468A>C p.K490Q Substitution - Missense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1633202 SETD2 c.2425A>T p.R809* Substitution - Nonsense Liver COSM3373259 BAP1 c.92A>G p.E31G Substitution - Missense Thyroid COSM429397 PHRF1 c.4710_4712delGGA p.E1572delE Deletion - In frame Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5433823 PRDM2 c.3642C>T p.H1214H Substitution - coding silent Oesophagus COSM5402193 KDM3B c.2920C>T p.P974S Substitution - Missense Skin COSM5374727 ATF7IP c.1720G>A p.E574K Substitution - Missense Skin COSM3089597 EHMT1 c.147delC p.Q51fs*7 Deletion - Frameshift Large_intestine COSM1339916 ACTA1 c.435C>T p.Y145Y Substitution - coding silent Stomach COSM1724999 TET2 c.4618C>T p.Q1540* Substitution - Nonsense Pancreas COSM1166732 TRIM24 c.2754T>A p.H918Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4538466 PRDM9 c.2553G>T p.Q851H Substitution - Missense Skin COSM5996314 LMNB1 c.78C>T p.R26R Substitution - coding silent Prostate COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM23312 SMYD1 c.779_795del17 p.E260fs*8 Deletion - Frameshift Lung COSM1055641 GABRG1 c.1131+2T>C p.? Unknown Endometrium COSM125972 RUVBL2 c.1235G>A p.G412D Substitution - Missense Upper_aerodigestive_tract COSM1232745 WHSC1 c.493G>A p.A165T Substitution - Missense Large_intestine COSM302137 EP400 c.8181A>G p.Q2727Q Substitution - coding silent Urinary_tract COSM3928576 PHF3 c.5640C>G p.G1880G Substitution - coding silent Central_nervous_system COSM3598255 BRPF1 c.2386C>T p.L796L Substitution - coding silent Skin COSM4397968 PBRM1 c.937C>T p.P313S Substitution - Missense Skin COSM3763365 CHD7 c.6135G>A p.P2045P Substitution - coding silent Large_intestine COSM2064411 TDG c.246delA p.K84fs*21 Deletion - Frameshift Soft_tissue COSM3839111 ING5 c.142G>C p.E48Q Substitution - Missense Breast COSM4959895 KMT2A c.391G>A p.A131T Substitution - Missense Liver COSM1196200 EHMT2 c.2617C>T p.R873C Substitution - Missense Lung COSM4990884 CREBBP c.4270C>T p.P1424S Substitution - Missense Skin COSM3420728 CHD2 c.3751C>T p.R1251C Substitution - Missense Large_intestine COSM1228966 TET2 c.4427C>T p.A1476V Substitution - Missense Large_intestine COSM1108220 TAF1L c.4247G>A p.R1416K Substitution - Missense Endometrium COSM4616643 STK31 c.2546A>G p.D849G Substitution - Missense Large_intestine COSM1702785 HELLS c.1510C>T p.P504S Substitution - Missense Skin COSM2866572 TRRAP c.3474delG p.G1160fs*25 Deletion - Frameshift Large_intestine COSM338371 ING3 c.608A>T p.N203I Substitution - Missense Lung COSM1346788 MGMT c.26G>A p.R9H Substitution - Missense Stomach COSM23379 PCGF6 c.877A>G p.R293G Substitution - Missense Kidney COSM997 SMARCB1 c.1102C>T p.Q368* Substitution - Nonsense Kidney COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM36389 SMARCB1 c.933_934insAT p.A312fs*9 Insertion - Frameshift Central_nervous_system COSM51435 ARID1A c.2427_2427delC p.R811fs*22 Deletion - Frameshift Ovary COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM53007 EZH2 c.188_189insA p.R64fs*18 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM48860 BAP1 c.406G>T p.E136* Substitution - Nonsense Lung COSM86960 IDH2 c.512G>A p.G171D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM133130 DNMT3A c.2546C>G p.P849R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM133672 IDH2 c.516G>C p.R172S Substitution - Missense Bone COSM149918 KDM3B c.714G>A p.E238E Substitution - coding silent Stomach COSM179064 CDYL c.1290C>T p.F430F Substitution - coding silent Large_intestine COSM184380 GTF3C1 c.3733C>T p.R1245C Substitution - Missense Liver COSM215685 KAT2A c.509A>G p.N170S Substitution - Missense Central_nervous_system COSM216431 SETBP1 c.147G>A p.P49P Substitution - coding silent Pancreas COSM234850 KAT2A c.628C>T p.L210L Substitution - coding silent Skin COSM231564 DNMT3A c.2203_2203delT p.Y735fs*44 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM249177 CHD1 c.2404G>A p.E802K Substitution - Missense Kidney COSM238287 TDRD7 c.3077-4C>T p.? Unknown Prostate COSM281669 HELLS c.2162G>A p.R721H Substitution - Missense Large_intestine COSM292817 SIRT5 c.576T>C p.P192P Substitution - coding silent Large_intestine COSM362721 SMARCA1 c.2506G>A p.D836N Substitution - Missense Lung COSM397862 CBX3 c.415C>T p.L139F Substitution - Missense Lung COSM399663 HDAC7 c.1023C>T p.T341T Substitution - coding silent Lung COSM400732 ATRX c.2295T>C p.Y765Y Substitution - coding silent Lung COSM392501 KDM3A c.329delA p.Q110fs*5 Deletion - Frameshift Lung COSM391362 BAZ1B c.3813_3815delGGA p.E1273delE Deletion - In frame Lung COSM417858 ASXL3 c.690A>G p.S230S Substitution - coding silent Urinary_tract COSM414505 ARID1A c.4591G>T p.E1531* Substitution - Nonsense Urinary_tract COSM460729 BRPF1 c.2098G>A p.E700K Substitution - Missense Cervix COSM488624 ATRX c.6555G>A p.L2185L Substitution - coding silent Kidney COSM941785 BAZ2A c.1474G>A p.A492T Substitution - Missense Liver COSM937171 EP400 c.5846C>T p.A1949V Substitution - Missense Endometrium COSM1027426 NCOA5 c.544C>T p.R182C Substitution - Missense Endometrium COSM753323 GTF3C4 c.1013G>T p.G338V Substitution - Missense Lung COSM702081 CHD2 c.87G>T p.S29S Substitution - coding silent Lung COSM699051 UBR7 c.686G>T p.G229V Substitution - Missense Lung COSM910650 ORC1 c.1496C>T p.A499V Substitution - Missense Endometrium COSM1007228 MBD5 c.2258C>A p.P753H Substitution - Missense Endometrium COSM1067653 NIPBL c.1263G>A p.S421S Substitution - coding silent Liver COSM1125893 BRWD3 c.581G>T p.R194I Substitution - Missense Endometrium COSM1087515 KMT2C c.13983G>A p.E4661E Substitution - coding silent Endometrium COSM1228830 TDRD5 c.1614G>T p.E538D Substitution - Missense Kidney COSM1261517 PCGF1 c.505G>C p.D169H Substitution - Missense Oesophagus COSM1257417 MBTD1 c.24C>T p.I8I Substitution - coding silent Oesophagus COSM1226769 SMARCA5 c.430C>T p.R144C Substitution - Missense Large_intestine COSM1187902 TRDMT1 c.555G>T p.E185D Substitution - Missense Lung COSM1303437 CBX2 c.1371G>A p.E457E Substitution - coding silent Urinary_tract COSM1290508 SRCAP c.9202C>T p.R3068C Substitution - Missense Stomach COSM1315875 CREBBP c.4445A>G p.Y1482C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1319508 PHF6 c.586-1G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1331862 KDM6A c.2857_2858delTT p.F953fs*25 Deletion - Frameshift Ovary COSM1393331 DPF1 c.661G>A p.D221N Substitution - Missense Large_intestine COSM1377035 GTF3C1 c.1021C>T p.R341W Substitution - Missense Large_intestine COSM1363800 ING4 c.395G>A p.R132Q Substitution - Missense Large_intestine COSM1492210 TDRD1 c.1832-2A>T p.? Unknown Kidney COSM1614668 DNMT3A c.1816C>A p.Q606K Substitution - Missense Liver COSM1675286 JMJD1C c.2206A>G p.K736E Substitution - Missense Large_intestine COSM1733360 POGZ c.1271delC p.P424fs*46 Deletion - Frameshift Pancreas COSM1724646 SETD1A c.3127_3129delTCC p.S1058delS Deletion - In frame Urinary_tract COSM2030058 CHD8 c.3765C>T p.Y1255Y Substitution - coding silent Large_intestine COSM2077921 HDAC1 c.436G>A p.E146K Substitution - Missense Stomach COSM2151935 PHF20 c.1345G>T p.D449Y Substitution - Missense Central_nervous_system COSM2152146 DIDO1 c.253G>A p.G85S Substitution - Missense Central_nervous_system COSM2149271 PRDM15 c.467G>A p.G156E Substitution - Missense Central_nervous_system COSM3053504 SMEK2 c.378T>A p.P126P Substitution - coding silent Upper_aerodigestive_tract COSM3113498 SETD1A c.1133G>A p.R378H Substitution - Missense Large_intestine COSM3160225 PHF3 c.106G>A p.A36T Substitution - Missense Upper_aerodigestive_tract COSM3172778 L3MBTL3 c.1115G>A p.R372Q Substitution - Missense Thymus COSM3254015 MLL5 c.5484G>A p.Q1828Q Substitution - coding silent Large_intestine COSM3366842 EZH2 c.2030-1G>A p.? Unknown Kidney COSM3402396 SETD6 c.815T>C p.M272T Substitution - Missense Central_nervous_system COSM3450144 GLYATL1 c.586G>A p.E196K Substitution - Missense Skin COSM3598240 BRPF1 c.1663C>T p.P555S Substitution - Missense Skin COSM3567455 MBD5 c.2933C>T p.P978L Substitution - Missense Skin COSM3710007 KMT2A c.4965G>A p.R1655R Substitution - coding silent Upper_aerodigestive_tract COSM3710906 KMT2D c.14841G>C p.W4947C Substitution - Missense Upper_aerodigestive_tract COSM3735041 TET2 c.2899_2899delC p.Q967fs*40 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3819168 PHF12 c.2090-4C>A p.? Unknown Breast COSM3800667 KDM5C c.4351C>A p.R1451R Substitution - coding silent Urinary_tract COSM3849780 LMNB1 c.1662G>A p.E554E Substitution - coding silent Stomach COSM3835247 TDRD7 c.2619T>C p.T873T Substitution - coding silent Breast COSM3916582 ATXN7 c.1992C>T p.S664S Substitution - coding silent Skin COSM3959195 SETBP1 c.456G>A p.K152K Substitution - coding silent Lung COSM4028647 LBR c.1793C>T p.A598V Substitution - Missense Stomach COSM4004595 KDM4D c.399A>G p.S133S Substitution - coding silent Ovary COSM3997097 TDRD5 c.1596T>C p.C532C Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4129608 NCOR1 c.571G>A p.E191K Substitution - Missense Upper_aerodigestive_tract COSM4150747 CHD8 c.78C>T p.N26N Substitution - coding silent Kidney COSM4162022 KMT2C c.1131A>T p.P377P Substitution - coding silent Large_intestine COSM4572411 TDRD5 c.737T>G p.M246R Substitution - Missense Skin COSM4436870 INTS12 c.938C>A p.T313K Substitution - Missense Oesophagus COSM4579466 NCOR1 c.4320A>G p.A1440A Substitution - coding silent Bone COSM4509115 MPHOSPH8 c.797C>T p.S266L Substitution - Missense Skin COSM4728287 SMARCA4 c.365C>T p.S122L Substitution - Missense Large_intestine COSM4695058 KDM6B c.3666G>A p.L1222L Substitution - coding silent Large_intestine COSM4672109 CHD9 c.2273_2274insT p.A761fs*9 Insertion - Frameshift Large_intestine COSM4663223 ARID1A c.3210_3211insA p.W1073fs*32 Insertion - Frameshift Large_intestine COSM4698236 LMNB1 c.1479C>T p.G493G Substitution - coding silent Large_intestine COSM4639685 KAT6B c.5486A>G p.D1829G Substitution - Missense Large_intestine COSM4770500 KMT2C c.11594C>G p.S3865* Substitution - Nonsense Breast COSM4640179 SMARCA4 c.3620T>C p.V1207A Substitution - Missense Large_intestine COSM4750248 ATF7IP c.2914G>A p.D972N Substitution - Missense Stomach COSM4799173 PHF23 c.972G>A p.M324I Substitution - Missense Liver COSM4921060 PHF2 c.2431C>T p.L811L Substitution - coding silent Liver COSM4839846 GLYATL1 c.629C>T p.S210F Substitution - Missense Cervix COSM4829347 KDM4C c.921+5G>T p.? Unknown Cervix COSM4817273 TDRD6 c.1518G>T p.L506F Substitution - Missense Cervix COSM4954514 BAP1 c.1909A>T p.K637* Substitution - Nonsense Liver COSM4959295 CHD6 c.2002-1G>A p.? Unknown Liver COSM4964076 BAP1 c.590G>C p.G197A Substitution - Missense Liver COSM4968116 HDAC9 c.3155C>G p.A1052G Substitution - Missense Adrenal_gland COSM4997839 ARID2 c.2722_2731del10 p.S908fs*16 Deletion - Frameshift Pancreas COSM5034520 TRIM66 c.3339C>T p.R1113R Substitution - coding silent Oesophagus COSM5008659 KMT2C c.10898C>T p.P3633L Substitution - Missense Large_intestine COSM5202004 NCOA6 c.2759delC p.P920fs*11 Deletion - Frameshift Breast COSM5067026 KDM2B c.1020+9C>A p.? Unknown Large_intestine COSM5045601 BAZ1A c.3587G>A p.R1196Q Substitution - Missense Oesophagus COSM5351845 SP110 c.989C>T p.T330M Substitution - Missense Kidney COSM5369281 MBD1 c.674_680delGTGGAGT p.C225fs*95 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5404710 ARID1B c.5667C>T p.I1889I Substitution - coding silent Skin COSM5384924 GLYR1 c.551C>T p.P184L Substitution - Missense Skin COSM5463283 PBRM1 c.4688G>A p.R1563Q Substitution - Missense Large_intestine COSM5629210 ATRX c.5179G>T p.E1727* Substitution - Nonsense Oesophagus COSM5643034 PCGF1 c.617T>G p.V206G Substitution - Missense Oesophagus COSM5751613 CTCF c.702_703insT p.G235fs*7 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5656088 INOC1 c.2041G>A p.G681R Substitution - Missense Oesophagus COSM5599399 DMAP1 c.379G>A p.A127T Substitution - Missense Skin COSM5599399 DMAP1 c.379G>A p.A127T Substitution - Missense Skin COSM5600370 RNF17 c.344A>G p.K115R Substitution - Missense Skin COSM5762957 TET2 c.2455_2456insA p.Y819fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5835243 PHF3 c.244+2delT p.? Unknown Breast COSM5884101 PHF15 c.921G>T p.W307C Substitution - Missense Large_intestine COSM5944248 TET2 c.895delG p.D299fs*9 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5913656 CHD2 c.2129C>T p.P710L Substitution - Missense Skin COSM5993875 SMYD1 c.844A>C p.K282Q Substitution - Missense Prostate COSM34201 MSH6 c.? p.? Unknown Endometrium COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Central_nervous_system COSM5003138 BRWD3 c.1255G>A p.D419N Substitution - Missense Pancreas COSM166347 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1286211 KMT2C c.10938G>T p.V3646V Substitution - coding silent Autonomic_ganglia COSM3778510 ACTB c.1043C>G p.S348W Substitution - Missense Cervix COSM1617696 SMARCC1 c.1385+4A>T p.? Unknown Liver COSM3166301 ATAD2 c.4030delA p.S1344fs*15 Deletion - Frameshift Pancreas COSM1714478 PHF21B c.812C>T p.P271L Substitution - Missense Skin COSM5487273 EZH2 c.2226_2227insAATCCCCTC p.V742_G743insNPL Insertion - In frame Haematopoietic_and_lymphoid_tissue COSM1095753 ATAD2 c.2527G>A p.A843T Substitution - Missense Endometrium COSM4954651 MBD5 c.967A>G p.I323V Substitution - Missense Liver COSM22575 MEN1 c.1539_1540insC p.R516fs*15 Insertion - Frameshift Lung COSM51465 ARID1A c.6196A>G p.N2066D Substitution - Missense Urinary_tract COSM20436 TAF1L c.1994delA p.K665fs*4 Deletion - Frameshift Large_intestine COSM240329 KDM5A c.2033_2044del12 p.R680_C683delRTTC Deletion - In frame Prostate COSM268744 BAZ2B c.3862C>T p.R1288C Substitution - Missense Oesophagus COSM4615338 SETMAR c.441_442insA p.G150fs*18 Insertion - Frameshift Large_intestine COSM51233 ARID1A c.782_791del10 p.S261fs*99 Deletion - Frameshift Ovary COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4030432 SMYD3 c.755C>T p.A252V Substitution - Missense Stomach COSM5938400 PHF23 c.712C>T p.P238S Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3414570 DMAP1 c.106delA p.K37fs*9 Deletion - Frameshift Large_intestine COSM3356290 HNF1A c.348G>A p.A116A Substitution - coding silent Skin COSM3361600 CHD2 c.4188G>A p.E1396E Substitution - coding silent Kidney COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM2879845 MBD2 c.618delT p.F206fs*8 Deletion - Frameshift Large_intestine COSM1490665 HCFC1 c.4063G>A p.D1355N Substitution - Missense Breast COSM4856730 NSD1 c.1450G>C p.E484Q Substitution - Missense Cervix COSM3717549 BPTF c.2910T>C p.D970D Substitution - coding silent Liver COSM5486696 PHF19 c.1041G>A p.P347P Substitution - coding silent Large_intestine COSM3771725 HDAC1 c.341C>T p.T114I Substitution - Missense Pancreas COSM908335 PRDM16 c.709G>A p.E237K Substitution - Missense Stomach COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM2965438 KDM6A c.3304G>A p.E1102K Substitution - Missense Upper_aerodigestive_tract COSM268283 TAF1L c.2738C>A p.A913E Substitution - Missense Large_intestine COSM1667163 PRDM2 c.1409C>A p.S470Y Substitution - Missense Large_intestine COSM1365732 ZMYM2 c.3156A>G p.S1052S Substitution - coding silent Large_intestine COSM3636535 KMT2C c.2251G>A p.D751N Substitution - Missense Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM134250 PRDM14 c.1610G>A p.R537Q Substitution - Missense Skin COSM4950553 LBR c.1315-2A>C p.? Unknown Liver COSM972488 CTCF c.1133C>T p.P378L Substitution - Missense Endometrium COSM1026063 NCOA6 c.5189G>A p.R1730Q Substitution - Missense Endometrium COSM1284745 EP400 c.2520G>T p.E840D Substitution - Missense Autonomic_ganglia COSM144612 KMT2D c.11152C>T p.Q3718* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5165412 PSIP1 c.115_118delAAAC p.K39fs*14 Deletion - Frameshift Large_intestine COSM3791876 SUV420H1 c.2059G>T p.D687Y Substitution - Missense Urinary_tract COSM685477 SFMBT2 c.1829G>A p.R610K Substitution - Missense Lung COSM4731999 TAF3 c.1081C>T p.Q361* Substitution - Nonsense Large_intestine COSM1516959 MGA c.5717C>T p.S1906L Substitution - Missense Skin COSM4119061 BAP1 c.801G>A p.Q267Q Substitution - coding silent Stomach COSM164060 RNF2 c.375G>C p.E125D Substitution - Missense Breast COSM4937133 MBD1 c.1324G>T p.E442* Substitution - Nonsense Liver COSM5811902 BRPF3 c.2734C>T p.P912S Substitution - Missense Liver COSM4110125 SMC1A c.2517G>A p.E839E Substitution - coding silent Stomach COSM3720985 BRDT c.2048C>A p.S683Y Substitution - Missense Upper_aerodigestive_tract COSM4148896 TDRD3 c.1059T>C p.P353P Substitution - coding silent Kidney COSM1630066 NCOR1 c.515C>T p.S172L Substitution - Missense Upper_aerodigestive_tract COSM1312887 KMT2C c.2392C>G p.H798D Substitution - Missense Urinary_tract COSM1622163 MLL5 c.1030A>G p.K344E Substitution - Missense Liver COSM1161492 GABRG1 c.1190C>T p.P397L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52876 PBRM1 c.2520T>A p.F840L Substitution - Missense Kidney COSM896952 ASH1L c.216G>A p.Q72Q Substitution - coding silent Endometrium COSM4410080 NCOR1 c.2638A>G p.S880G Substitution - Missense Oesophagus COSM283084 MYST3 c.5965G>A p.A1989T Substitution - Missense Large_intestine COSM2153755 KMT2C c.12903C>A p.P4301P Substitution - coding silent Central_nervous_system COSM1744170 PRDM14 c.221C>T p.A74V Substitution - Missense Biliary_tract COSM4956379 KDM4B c.1946C>T p.P649L Substitution - Missense Liver COSM1632993 TBL1XR1 c.251_252insC p.D85fs*6 Insertion - Frameshift Liver COSM5913950 SUZ12 c.650C>T p.P217L Substitution - Missense Skin COSM1753989 BRD8 c.671C>T p.S224F Substitution - Missense Liver COSM970562 CREBBP c.4545C>G p.I1515M Substitution - Missense Endometrium COSM755435 SMARCA1 c.103C>G p.Q35E Substitution - Missense Lung COSM4413607 EZH2 c.?_?del? p.?fs Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3679914 BRD7 c.846C>G p.A282A Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM6011655 PRMT10 c.997G>A p.V333M Substitution - Missense Skin COSM3878497 TIF1 c.3035G>A p.R1012H Substitution - Missense Stomach COSM3598850 TET2 c.717C>T p.S239S Substitution - coding silent Skin COSM98837 TRRAP c.8549C>T p.A2850V Substitution - Missense Stomach COSM4064337 RAI1 c.1970C>T p.A657V Substitution - Missense Prostate COSM2965430 KDM6A c.2987A>G p.H996R Substitution - Missense Large_intestine COSM1159056 UTY c.1777delC p.H593fs*111 Deletion - Frameshift Pancreas COSM3821890 CARM1 c.1515C>T p.L505L Substitution - coding silent Breast COSM3080621 ACTL6B c.695delC p.P232fs*24 Deletion - Frameshift Large_intestine COSM205746 FMR1 c.1816C>T p.R606C Substitution - Missense Breast COSM88090 KMT2D c.15691C>T p.R5231* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM116914 ATRX c.6869A>G p.N2290S Substitution - Missense Ovary COSM4407052 PHF14 c.2773-10T>G p.? Unknown Liver COSM920701 TAF3 c.1222G>A p.E408K Substitution - Missense Large_intestine COSM3900235 MYST3 c.5453C>T p.S1818F Substitution - Missense Stomach COSM5574204 NCOR1 c.6038C>T p.P2013L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5716498 MGA c.7511C>T p.S2504F Substitution - Missense Skin COSM1288410 TDRKH c.382C>A p.Q128K Substitution - Missense Autonomic_ganglia COSM1292961 HCFC1 c.3578C>A p.S1193Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4138412 RUVBL1 c.263G>A p.G88D Substitution - Missense Liver COSM4022816 TDRD10 c.519G>A p.V173V Substitution - coding silent Stomach COSM96513 EP300 c.5188delT p.S1730fs*4 Deletion - Frameshift Ovary COSM4850101 SETD8 c.646G>A p.E216K Substitution - Missense Cervix COSM1128597 KDM5A c.3515G>T p.G1172V Substitution - Missense Prostate COSM5611305 HNF1A c.800_801GG>AA p.W267* Substitution - Nonsense Skin COSM417167 RAI1 c.4649C>T p.S1550F Substitution - Missense Urinary_tract COSM936034 KDM2B c.2391C>T p.G797G Substitution - coding silent Endometrium COSM4991942 PBRM1 c.595C>T p.P199S Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1685364 SETBP1 c.2612T>C p.I871T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM252979 CLOCK c.368delT p.L123fs*1 Deletion - Frameshift Large_intestine COSM3744597 MGA c.3541G>T p.E1181* Substitution - Nonsense Liver COSM1678374 INOC1 c.3481G>A p.A1161T Substitution - Missense Large_intestine COSM1103 SMARCB1 c.?_?del? p.?del Deletion - In frame Soft_tissue COSM5881443 ASXL1 c.? p.K825* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM88812 TET2 c.? p.D1075fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM1063513 HDAC3 c.155A>G p.Q52R Substitution - Missense Endometrium COSM1189417 RAI1 c.1882G>A p.E628K Substitution - Missense Lung COSM5711682 HDAC6 c.3118A>C p.T1040P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1639824 ARID1A c.6641G>C p.S2214T Substitution - Missense Stomach COSM3438377 ERCC6 c.4372T>C p.L1458L Substitution - coding silent Skin COSM3414261 RBBP7 c.17-8A>G p.? Unknown Oesophagus COSM1718169 BRD8 c.963T>G p.A321A Substitution - coding silent Skin COSM445546 MBD4 c.1217G>A p.R406Q Substitution - Missense Breast COSM5494070 ASXL1 c.3048T>C p.A1016A Substitution - coding silent Biliary_tract COSM30389 KDM5C c.3148delG p.D1050fs*5 Deletion - Frameshift Kidney COSM4833836 CHD7 c.4205G>C p.R1402T Substitution - Missense Cervix COSM51200 ASXL1 c.1888_1910del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1696224 KDM3B c.4888C>T p.R1630* Substitution - Nonsense Skin COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2156098 C5orf35 c.385A>G p.S129G Substitution - Missense Central_nervous_system COSM3982502 ELP3 c.90C>T p.H30H Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM423101 PBRM1 c.2419delA p.I807fs*18 Deletion - Frameshift Kidney COSM1580272 MECP2 c.27G>T p.R9S Substitution - Missense Central_nervous_system COSM5003243 ZMYM6 c.3242G>T p.R1081I Substitution - Missense Pancreas COSM1392041 DOT1L c.1777C>T p.R593C Substitution - Missense Large_intestine COSM1476565 ARID2 c.1653G>A p.S551S Substitution - coding silent Large_intestine COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM219390 KDM5C c.2150C>T p.S717L Substitution - Missense Breast COSM5357520 TDRD6 c.5621C>T p.P1874L Substitution - Missense Large_intestine COSM2813368 CARM1 c.1440G>A p.T480T Substitution - coding silent Large_intestine COSM983333 BPTF c.5316G>C p.Q1772H Substitution - Missense Endometrium COSM3422139 ASXL3 c.624C>A p.S208S Substitution - coding silent Large_intestine COSM3791491 PRDM11 c.874G>C p.E292Q Substitution - Missense Urinary_tract COSM5926957 KAT2A c.1765-6C>T p.? Unknown Skin COSM3598879 INTS12 c.1116C>T p.G372G Substitution - coding silent Skin COSM5879026 TET2 c.3881A>G p.Y1294C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4436625 SETD2 c.104G>C p.G35A Substitution - Missense Oesophagus COSM5037548 KDM6B c.2705T>C p.L902P Substitution - Missense Skin COSM709403 CXXC1 c.468G>C p.Q156H Substitution - Missense Lung COSM4753961 TP53BP1 c.472C>T p.L158F Substitution - Missense Stomach COSM5514499 SETD5_ENST00000402198 c.3228A>G p.Q1076Q Substitution - coding silent Biliary_tract COSM42016 TET2 c.4393C>T p.R1465* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4721050 RERE c.1723C>T p.R575W Substitution - Missense Large_intestine COSM233789 ZBTB4 c.2944C>T p.P982S Substitution - Missense Skin COSM241127 PHF1 c.751T>A p.W251R Substitution - Missense Prostate COSM5047173 CHD2 c.4313C>G p.S1438* Substitution - Nonsense Oesophagus COSM723965 NCOA6 c.149T>C p.V50A Substitution - Missense Lung COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1569293 TAF1L c.2617C>T p.R873C Substitution - Missense Pancreas COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52009 TET2 c.? p.G1282D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1309358 PBRM1 c.3926T>C p.I1309T Substitution - Missense Urinary_tract COSM110721 BAP1 c.178C>T p.R60* Substitution - Nonsense Kidney COSM43397 SETD2 c.3337G>A p.D1113N Substitution - Missense Kidney COSM5493139 CHD8 c.1721_1722delGA p.R574fs*7 Deletion - Frameshift Biliary_tract COSM5049517 EP300 c.4858C>T p.P1620S Substitution - Missense Oesophagus COSM163710 PRDM9 c.1078G>A p.E360K Substitution - Missense Breast COSM3733336 KMT2C c.2263C>T p.Q755* Substitution - Nonsense Thyroid COSM1083672 MLL5 c.1122C>A p.F374L Substitution - Missense Endometrium COSM750339 MYST3 c.1603C>T p.P535S Substitution - Missense Upper_aerodigestive_tract COSM52851 PBRM1 c.2141delT p.M714fs*17 Deletion - Frameshift Kidney COSM96353 BAP1 c.1553_1559delGGCCCTC p.R518fs*51 Deletion - Frameshift Pleura COSM5498632 SETD2 c.1125delT p.I376fs*12 Deletion - Frameshift Biliary_tract COSM1030946 PRDM15 c.1629C>T p.G543G Substitution - coding silent Large_intestine COSM3463552 BAZ2A_ENST00000379441 c.674C>T p.S225L Substitution - Missense Skin COSM4713936 PHF15 c.1057G>A p.D353N Substitution - Missense Large_intestine COSM1682269 CBX6 c.947C>T p.S316F Substitution - Missense Large_intestine COSM5770049 TCF20 c.679A>C p.R227R Substitution - coding silent Breast COSM2150052 SETBP1 c.3805_3807delGAT p.D1269delD Deletion - In frame Central_nervous_system COSM3546355 CHD6 c.7316C>T p.P2439L Substitution - Missense Skin COSM5155852 PHF19 c.885C>A p.L295L Substitution - coding silent Large_intestine COSM4021546 PRDM2 c.1600A>G p.T534A Substitution - Missense Stomach COSM5756645 PRDM9 c.118T>A p.W40R Substitution - Missense Large_intestine COSM3805964 RERE c.2049T>G p.G683G Substitution - coding silent Breast COSM4616856 TCF20 c.1712T>C p.L571P Substitution - Missense Large_intestine COSM961503 MGA c.2605G>T p.D869Y Substitution - Missense Endometrium COSM961504 MGA c.2671G>A p.V891I Substitution - Missense Endometrium COSM5355331 DHX30 c.2126C>A p.P709H Substitution - Missense Large_intestine COSM3501431 TP53BP1 c.1648C>T p.P550S Substitution - Missense Skin COSM1093642 TRRAP c.5554C>T p.L1852F Substitution - Missense Endometrium COSM48859 BAP1 c.1153C>T p.R385* Substitution - Nonsense Eye COSM5382222 BAZ1A c.2411C>T p.P804L Substitution - Missense Skin COSM5020743 EP300 c.7177C>G p.L2393V Substitution - Missense Soft_tissue COSM1737892 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1347625 EPC1 c.1744G>T p.A582S Substitution - Missense Large_intestine COSM5974870 SFMBT1 c.2301T>C p.S767S Substitution - coding silent Upper_aerodigestive_tract COSM255213 MEN1 c.1621A>G p.T541A Substitution - Missense Soft_tissue COSM4586805 TDRD6 c.4257C>T p.S1419S Substitution - coding silent Bone COSM3361972 CHD9 c.7677A>C p.E2559D Substitution - Missense Kidney COSM970614 CREBBP c.732G>A p.T244T Substitution - coding silent Endometrium COSM3630864 ACTL6B c.670-1G>A p.? Unknown Skin COSM1299719 MBD6 c.105C>G p.L35L Substitution - coding silent Urinary_tract COSM5188123 MEN1 c.652C>T p.R218W Substitution - Missense Large_intestine COSM4592007 RAI1 c.841_843delCAG p.Q291delQ Deletion - In frame Upper_aerodigestive_tract COSM3896557 ATAD2 c.1961G>A p.R654H Substitution - Missense Stomach COSM4882800 PRDM15 c.2884C>A p.Q962K Substitution - Missense Upper_aerodigestive_tract COSM383536 KMT2C c.7615C>T p.Q2539* Substitution - Nonsense Oesophagus COSM4621699 PRDM13 c.402G>A p.E134E Substitution - coding silent Skin COSM4603245 PCGF6 c.84_85insGCCTCC p.P28_V29insAS Insertion - In frame Upper_aerodigestive_tract COSM5347034 ARID1A c.356A>G p.E119G Substitution - Missense Endometrium COSM1186909 NSD1 c.3706G>A p.V1236I Substitution - Missense Lung COSM5038377 UHRF1 c.372T>C p.G124G Substitution - coding silent Skin COSM3812397 CBX5 c.303C>G p.I101M Substitution - Missense Breast COSM266034 ARID1A c.1446G>A p.Q482Q Substitution - coding silent Large_intestine COSM3461523 KMT2D c.13000C>T p.P4334S Substitution - Missense Skin COSM5813719 KDM5C c.738G>T p.M246I Substitution - Missense Liver COSM4789681 SETD3 c.439C>T p.R147* Substitution - Nonsense Liver COSM4118093 SMARCC1 c.2877A>G p.E959E Substitution - coding silent Stomach COSM3401221 CHD8 c.3714+1G>A p.? Unknown Central_nervous_system COSM88749 CREBBP c.4336C>T p.R1446C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4714051 PHIP c.1050delT p.F350fs*32 Deletion - Frameshift Large_intestine COSM5995402 SETD7 c.748A>T p.I250F Substitution - Missense Prostate COSM3359268 PHRF1 c.4799A>C p.Q1600P Substitution - Missense Kidney COSM3578862 SP110 c.1785G>A p.L595L Substitution - coding silent Skin COSM5353235 PRDM16 c.3102C>T p.N1034N Substitution - coding silent Large_intestine COSM249116 NIPBL c.1317G>T p.Q439H Substitution - Missense Pancreas COSM4385113 ASXL1 c.2786A>GG p.E929fs*19 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM4665205 BAZ1A c.3044A>G p.Y1015C Substitution - Missense Large_intestine COSM3410221 PRDM9 c.2233G>T p.E745* Substitution - Nonsense Central_nervous_system COSM5765650 KMT2C c.887A>G p.K296R Substitution - Missense Large_intestine COSM979853 HDAC5 c.2727+1G>A p.? Unknown Endometrium COSM4845328 NCOA1 c.1715G>C p.R572T Substitution - Missense Cervix COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM426440 ORC1 c.712G>C p.E238Q Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4749267 KIAA2026_ENST00000399933 c.577T>G p.L193V Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM228110 KMT2C c.1042G>A p.D348N Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM228110 KMT2C c.1042G>A p.D348N Substitution - Missense Soft_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM110714 ASXL1 c.3379G>A p.D1127N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5555634 KAT2B c.1499G>A p.G500D Substitution - Missense Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4856129 ATRX c.6327-1G>A p.? Unknown Cervix COSM22576 MEN1 c.654+3A>G p.? Unknown Parathyroid COSM133573 ASXL1 c.1911_1912insC p.T638fs*20 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3421031 CHD9 c.2782C>T p.R928C Substitution - Missense Skin COSM423826 POGZ c.3377A>G p.D1126G Substitution - Missense Breast COSM4950400 NCOA7 c.712G>A p.G238S Substitution - Missense Liver COSM3988425 SRCAP c.4183T>C p.L1395L Substitution - coding silent Kidney COSM1363344 MBD6 c.2006delC p.P671fs*4 Deletion - Frameshift Large_intestine COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM216735 SHPRH c.2394G>A p.Q798Q Substitution - coding silent Pancreas COSM1307605 DIDO1 c.5471G>C p.R1824T Substitution - Missense Urinary_tract COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM3839165 DNMT3A c.1024G>A p.E342K Substitution - Missense Breast COSM41741 TET2 c.5618T>C p.I1873T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5618652 PHF20L1 c.857G>T p.*286L Nonstop extension Breast COSM254542 ARID1A c.5338G>T p.E1780* Substitution - Nonsense Urinary_tract COSM3937657 BAHCC1 c.5759A>G p.Q1920R Substitution - Missense Oesophagus COSM1485247 SETD2 c.3365G>T p.R1122L Substitution - Missense Breast COSM470602 INOC1 c.1448C>A p.A483E Substitution - Missense Kidney COSM1117713 HCFC1 c.4622T>C p.V1541A Substitution - Missense Endometrium COSM4031001 ARID1A c.1438C>T p.Q480* Substitution - Nonsense Stomach COSM5975531 NSD1 c.2308G>A p.G770S Substitution - Missense Upper_aerodigestive_tract COSM1749024 UBR7 c.952G>A p.D318N Substitution - Missense Urinary_tract COSM2095567 TDRD5 c.2548A>G p.T850A Substitution - Missense Large_intestine COSM3839171 DNMT3A c.143T>G p.V48G Substitution - Missense Breast COSM4728298 SMARCA4 c.4505G>A p.R1502H Substitution - Missense Large_intestine COSM1296736 RERE c.1684G>C p.E562Q Substitution - Missense Urinary_tract COSM4099054 EYA2 c.585G>A p.S195S Substitution - coding silent Stomach COSM1705490 ARID2 c.1672C>T p.R558C Substitution - Missense Skin COSM2006773 KMT2D c.12592C>T p.R4198W Substitution - Missense Upper_aerodigestive_tract COSM4042379 KMT2D c.6299G>A p.R2100H Substitution - Missense Stomach COSM994 SMARCB1 c.618G>A p.W206* Substitution - Nonsense Central_nervous_system COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM22570 MEN1 c.266T>G p.L89R Substitution - Missense Pancreas COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM23022 MEN1 c.151delA p.N51fs*68 Deletion - Frameshift Parathyroid COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Pancreas COSM52980 EZH2 c.2069G>A p.R690H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM71587 MBTD1 c.746G>T p.G249V Substitution - Missense Ovary COSM87115 TET2 c.3237_3237A>CCC p.A1080fs*3 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM96363 BAP1 c.602_602delA p.E201fs*30 Deletion - Frameshift Pleura COSM124455 KMT2C c.12250A>C p.I4084L Substitution - Missense Upper_aerodigestive_tract COSM137274 TAF1 c.5590G>T p.G1864W Substitution - Missense Skin COSM164781 TAF3 c.2666G>C p.W889S Substitution - Missense Breast COSM213881 RSF1 c.3695G>A p.R1232H Substitution - Missense Breast COSM217046 PHC1 c.1941_1953del13 p.E648fs*15 Deletion - Frameshift Liver COSM227525 KMT2C c.2294A>G p.E765G Substitution - Missense Central_nervous_system COSM254549 ARID1A c.5009G>A p.W1670* Substitution - Nonsense Liver COSM250920 DUSP1 c.1023C>A p.F341L Substitution - Missense Liver COSM325600 KDM6A c.2997A>C p.E999D Substitution - Missense Lung COSM363390 BRD9 c.1116G>T p.K372N Substitution - Missense Lung COSM360434 MYST3 c.1123G>T p.A375S Substitution - Missense Stomach COSM378913 LBR c.1671G>A p.A557A Substitution - coding silent Lung COSM392797 PHC3 c.59_70del12 p.T20_T23delTTTT Deletion - In frame Lung COSM422256 MSL3 c.1171A>G p.K391E Substitution - Missense Urinary_tract COSM417764 SMARCA4 c.2357C>A p.T786N Substitution - Missense Urinary_tract COSM422802 PBRM1 c.3028C>T p.R1010* Substitution - Nonsense Kidney COSM446632 SMARCC1 c.2332G>C p.E778Q Substitution - Missense Breast COSM454812 NCOA2 c.2484C>T p.G828G Substitution - coding silent Breast COSM484586 MLL5 c.5037A>C p.P1679P Substitution - coding silent Liver COSM480142 SETD2 c.4097A>T p.D1366V Substitution - Missense Kidney COSM480170 SETD2 c.2593C>T p.Q865* Substitution - Nonsense Kidney COSM480344 PBRM1 c.2605C>T p.Q869* Substitution - Nonsense Kidney COSM480356 PBRM1 c.2536G>T p.E846* Substitution - Nonsense Kidney COSM681799 ORC1 c.944G>A p.R315H Substitution - Missense Lung COSM941725 BAZ2A c.5329C>T p.R1777C Substitution - Missense Endometrium COSM1028937 C20orf20 c.535C>T p.R179C Substitution - Missense Endometrium COSM1031764 PRMT2 c.435C>A p.G145G Substitution - coding silent Endometrium COSM1012900 ASXL1 c.1900A>T p.R634* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM920699 TAF3 c.899G>A p.R300Q Substitution - Missense Endometrium COSM744992 EZH2 c.1657C>G p.Q553E Substitution - Missense Lung COSM709183 L3MBTL4 c.1482G>T p.V494V Substitution - coding silent Lung COSM723131 ASXL1 c.565+1G>A p.? Unknown Lung COSM726876 PHF21B c.485C>T p.A162V Substitution - Missense Lung COSM908626 ZMYM6 c.954G>A p.Q318Q Substitution - coding silent Endometrium COSM1602144 ARID1A c.3299T>G p.L1100R Substitution - Missense Liver COSM1096251 PHF20L1 c.247G>T p.D83Y Substitution - Missense Endometrium COSM1234964 MTA2 c.848A>G p.Y283C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1253970 HAT1 c.1176C>T p.S392S Substitution - coding silent Oesophagus COSM1205876 EYA1 c.505A>C p.S169R Substitution - Missense Large_intestine COSM1257620 MEN1 c.753C>T p.T251T Substitution - coding silent Stomach COSM1293014 PHF16 c.1559C>T p.A520V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1334327 GATAD2B c.91C>T p.R31* Substitution - Nonsense Large_intestine COSM1411316 NCOA6 c.3292C>T p.P1098S Substitution - Missense Large_intestine COSM1569622 HCFC1 c.4400C>T p.S1467F Substitution - Missense Large_intestine COSM1565740 NCOA3 c.3765G>A p.Q1255Q Substitution - coding silent Skin COSM1611511 CARM1 c.1020G>T p.V340V Substitution - coding silent Liver COSM1587304 CHD8 c.3034C>A p.L1012I Substitution - Missense Endometrium COSM1586697 CHD4 c.4013G>T p.R1338I Substitution - Missense Stomach COSM1625037 KIAA2026_ENST00000399933 c.2794_2795insTT p.R932fs*25 Insertion - Frameshift Liver COSM1581242 KMT2C c.7829G>A p.R2610Q Substitution - Missense Upper_aerodigestive_tract COSM1688526 POGZ c.1462C>T p.P488S Substitution - Missense Skin COSM1674392 PSIP1 c.176T>G p.F59C Substitution - Missense Large_intestine COSM1687442 ZMYM6 c.481C>T p.P161S Substitution - Missense Upper_aerodigestive_tract COSM1681736 EYA2 c.893C>T p.T298I Substitution - Missense Large_intestine COSM1658769 ASXL1 c.1927_1928insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1720336 SCML2 c.332A>T p.D111V Substitution - Missense Skin COSM1720580 STK31 c.902A>G p.K301R Substitution - Missense Skin COSM1716414 CTCF c.610_611insA p.T204fs*26 Insertion - Frameshift Endometrium COSM1724237 PRMT8 c.91T>C p.S31P Substitution - Missense Central_nervous_system COSM2154643 SETD8 c.802A>G p.T268A Substitution - Missense Central_nervous_system COSM2157030 PHF12 c.2587A>G p.T863A Substitution - Missense Central_nervous_system COSM2158443 JMJD1C c.3967A>C p.S1323R Substitution - Missense Upper_aerodigestive_tract COSM2182691 SETDB1 c.1574C>T p.T525I Substitution - Missense Large_intestine COSM2230117 PRDM2 c.2626A>G p.S876G Substitution - Missense Large_intestine COSM2738958 NCOR1 c.5818_5830del13 p.Q1940fs*32 Deletion - Frameshift Large_intestine COSM2818130 BRWD1 c.4844G>A p.G1615D Substitution - Missense Large_intestine COSM2828792 SETD5_ENST00000402198 c.1735A>C p.T579P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2834923 CHD9 c.6660C>T p.S2220S Substitution - coding silent Large_intestine COSM3364146 KDM5C c.2188T>C p.C730R Substitution - Missense Kidney COSM3488253 PRDM16 c.3004C>T p.H1002Y Substitution - Missense Skin COSM3415080 ERCC6 c.1954C>T p.R652* Substitution - Nonsense Skin COSM3460973 ARID2 c.2952C>T p.V984V Substitution - coding silent Skin COSM3457171 KDM2B c.2016C>T p.P672P Substitution - coding silent Skin COSM3589869 MECOM c.1602G>A p.M534I Substitution - Missense Skin COSM3545260 ASXL1 c.3843C>T p.S1281S Substitution - coding silent Skin COSM3529586 BRD4 c.1814A>T p.D605V Substitution - Missense Skin COSM3675145 CHD7 c.717C>A p.P239P Substitution - coding silent Prostate COSM3667913 CDYL2 c.252G>T p.P84P Substitution - coding silent Liver COSM3733435 KMT2C c.10981G>A p.V3661M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3799425 ASXL1 c.1256G>A p.R419K Substitution - Missense Urinary_tract COSM3807470 JMJD1C c.3388G>A p.G1130R Substitution - Missense Breast COSM3792906 CHD4 c.4160C>T p.P1387L Substitution - Missense Urinary_tract COSM3945533 DHX30 c.682G>A p.E228K Substitution - Missense Liver COSM4022213 POGZ c.3285G>T p.K1095N Substitution - Missense Stomach COSM4044297 CHD4 c.4747G>T p.V1583F Substitution - Missense Stomach COSM3996575 KIAA2026_ENST00000399933 c.4421T>G p.M1474R Substitution - Missense Kidney COSM3996920 TDRKH c.1332T>C p.H444H Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4101613 BRWD1 c.424A>T p.N142Y Substitution - Missense Stomach COSM4121659 PRDM5 c.231G>A p.R77R Substitution - coding silent Stomach COSM4120597 SETD5_ENST00000402198 c.4305C>T p.V1435V Substitution - coding silent Stomach COSM4066853 HDAC5 c.2610C>T p.D870D Substitution - coding silent Stomach COSM4159920 C5orf35 c.625A>G p.K209E Substitution - Missense Breast COSM4170005 PHF6 c.868A>T p.I290F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4188785 MECP2 c.958G>C p.V320L Substitution - Missense Kidney COSM4383578 DNMT3A c.1242C>G p.F414L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4385268 EP300 c.7114A>G p.M2372V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4387429 BAP1 c.290T>A p.L97Q Substitution - Missense Eye COSM4605692 KMT2D c.5431G>C p.E1811Q Substitution - Missense Upper_aerodigestive_tract COSM4444149 ATAD2 c.834A>T p.E278D Substitution - Missense Upper_aerodigestive_tract COSM4494509 INOC1 c.4348C>T p.R1450* Substitution - Nonsense Skin COSM4588286 TDRD7 c.231C>T p.C77C Substitution - coding silent Bone COSM4583278 SP110 c.1956G>A p.T652T Substitution - coding silent Bone COSM4428033 TDRD1 c.304G>C p.D102H Substitution - Missense Oesophagus COSM4544884 EYA2 c.365G>A p.S122N Substitution - Missense Skin COSM4500462 KAT6B c.5662C>T p.P1888S Substitution - Missense Skin COSM4502757 CHD7 c.6215C>T p.P2072L Substitution - Missense Skin COSM4472876 RING1 c.180C>T p.T60T Substitution - coding silent Skin COSM4479042 PCGF1 c.192C>T p.L64L Substitution - coding silent Skin COSM4410707 PBRM1 c.435delT p.R146fs*28 Deletion - Frameshift Kidney COSM4769268 TAF1 c.3947T>C p.I1316T Substitution - Missense Biliary_tract COSM4694948 KDM4A c.156G>A p.E52E Substitution - coding silent Large_intestine COSM4672117 CHD9 c.5362C>T p.L1788F Substitution - Missense Large_intestine COSM4662503 APOBEC1 c.361_362insT p.W121fs*16 Insertion - Frameshift Large_intestine COSM4708343 NSD1 c.1345T>A p.L449M Substitution - Missense Large_intestine COSM4620299 LMNA c.24C>T p.R8R Substitution - coding silent Large_intestine COSM4766074 DNMT3A c.2409-1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4611655 HDAC2 c.33delA p.V12fs*20 Deletion - Frameshift Large_intestine COSM4751956 SUZ12 c.212T>C p.V71A Substitution - Missense Stomach COSM4888388 DHX30 c.3451C>T p.R1151W Substitution - Missense Upper_aerodigestive_tract COSM4911311 BRD8 c.1092C>T p.I364I Substitution - coding silent Liver COSM4852826 TDRD5 c.2815G>C p.E939Q Substitution - Missense Cervix COSM4832498 SMARCD2 c.249G>C p.K83N Substitution - Missense Cervix COSM4968811 CDYL2 c.1243C>T p.R415W Substitution - Missense Central_nervous_system COSM4994308 AP001011.3_ENST00000320876 c.4579A>C p.N1527H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4973783 DOT1L c.2983C>T p.R995W Substitution - Missense Oesophagus COSM5020978 TIF1 c.2514C>G p.D838E Substitution - Missense Soft_tissue COSM5028355 BPTF c.2080G>C p.E694Q Substitution - Missense Breast COSM5374673 EP400 c.4763C>T p.T1588M Substitution - Missense Skin COSM5366943 SUV39H1 c.750G>A p.T250T Substitution - coding silent Large_intestine COSM5492478 SMARCA2 c.884C>T p.A295V Substitution - Missense Biliary_tract COSM5447401 BRWD1 c.3328A>G p.N1110D Substitution - Missense Large_intestine COSM5451260 ARID2 c.1307T>A p.I436N Substitution - Missense Large_intestine COSM5751333 SETD2 c.2380_2381insA p.R794fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5718761 BPTF c.3304C>T p.L1102F Substitution - Missense Skin COSM5722793 UHRF1 c.1536G>A p.Q512Q Substitution - coding silent Skin COSM5731903 ZMYM3 c.2308delC p.L770fs*1 Deletion - Frameshift Pancreas COSM5722091 EP400 c.3451G>A p.E1151K Substitution - Missense Skin COSM5608293 DOT1L c.572C>A p.P191Q Substitution - Missense Skin COSM5708770 SETD2 c.2908T>C p.F970L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5774381 PHC3 c.2853C>T p.A951A Substitution - coding silent Breast COSM5779623 KDM3A c.53T>A p.L18H Substitution - Missense Breast COSM5826725 ERCC6 c.2925-3delT p.? Unknown Large_intestine COSM5878847 DNMT3A c.1227G>A p.W409* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5929800 ASXL3 c.345G>A p.M115I Substitution - Missense Skin COSM5952932 BPTF c.1892A>G p.N631S Substitution - Missense Oesophagus COSM5960098 ZBTB33 c.1180A>T p.I394L Substitution - Missense Thyroid COSM5986539 CHD8 c.2355_2356insGGTC p.K786fs*20 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5968540 SRCAP c.2382C>A p.P794P Substitution - coding silent Genital_tract COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM52836 PBRM1 c.1981A>T p.K661* Substitution - Nonsense Kidney COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Pancreas COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1666676 SETBP1 c.? p.I871T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52902 PBRM1 c.761T>C p.L254P Substitution - Missense Kidney COSM4600925 RAG2 c.950G>A p.W317* Substitution - Nonsense Upper_aerodigestive_tract COSM86082 KMT2C c.2418C>G p.S806S Substitution - coding silent Skin COSM2965368 KDM6A c.2031G>A p.Q677Q Substitution - coding silent Large_intestine COSM269011 DHX30 c.1395G>A p.T465T Substitution - coding silent Large_intestine COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM1169518 KDM5C c.2273C>T p.A758V Substitution - Missense Kidney COSM3724151 VPS72 c.615G>A p.R205R Substitution - coding silent Upper_aerodigestive_tract COSM2965368 KDM6A c.2031G>A p.Q677Q Substitution - coding silent Large_intestine COSM2866550 TRRAP c.2699G>A p.G900D Substitution - Missense Large_intestine COSM1183847 ASXL3 c.17T>G p.I6S Substitution - Missense Large_intestine COSM3987103 MBD6 c.2036C>T p.A679V Substitution - Missense Kidney COSM955452 BAZ1A c.4509G>A p.S1503S Substitution - coding silent Large_intestine COSM4065086 PHF12 c.2679C>T p.I893I Substitution - coding silent Stomach COSM1626136 ATRX c.4721G>A p.C1574Y Substitution - Missense Liver COSM5476733 TRIM24 c.2082A>G p.R694R Substitution - coding silent Large_intestine COSM5760276 ATRX c.3069A>C p.E1023D Substitution - Missense Bone COSM3812050 ARID2 c.3931A>G p.K1311E Substitution - Missense Breast COSM5452783 POGZ c.860-4G>A p.? Unknown Large_intestine COSM4562142 CARM1 c.913G>A p.E305K Substitution - Missense Skin COSM937148 EP400 c.2429G>A p.R810H Substitution - Missense Large_intestine COSM5634686 CHD4 c.3748G>A p.D1250N Substitution - Missense Oesophagus COSM21473 HNF1A c.730A>G p.R244G Substitution - Missense Liver COSM4168272 PHF6 c.847T>A p.C283S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4170759 CREBBP c.3982+2T>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5709774 PRDM13 c.587C>T p.A196V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM110725 BAP1 c.219_219delT p.D73fs*5 Deletion - Frameshift Eye COSM1321881 KMT2A c.4438A>G p.K1480E Substitution - Missense Ovary COSM1622170 MLL5 c.5043A>C p.P1681P Substitution - coding silent Liver COSM1087653 KMT2C c.1610A>G p.E537G Substitution - Missense Endometrium COSM4986678 SP110 c.1737G>A p.M579I Substitution - Missense Soft_tissue COSM1034750 TCF20 c.5876G>A p.R1959Q Substitution - Missense Endometrium COSM4845981 SMEK2 c.43G>A p.E15K Substitution - Missense Cervix COSM4398557 SMARCD2 c.172C>T p.P58S Substitution - Missense Skin COSM4725208 SETDB1 c.3587A>G p.N1196S Substitution - Missense Large_intestine COSM5014202 SMYD3 c.483C>A p.H161Q Substitution - Missense Kidney COSM53206 ASXL1 c.2324_2324delT p.L775fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5990072 TET2 c.3508delC p.Q1170fs*56 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1444905 TDRD6 c.4550delA p.M1520fs*1 Deletion - Frameshift Stomach COSM1302624 SUZ12 c.795G>A p.M265I Substitution - Missense Urinary_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM1738049 TET2 c.? p.P398L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3508381 CCDC101 c.55C>T p.Q19* Substitution - Nonsense Skin COSM3733523 NCOR1 c.14G>T p.G5V Substitution - Missense Large_intestine COSM444027 ADNP c.2564G>C p.R855T Substitution - Missense Breast COSM3969587 CHD9 c.6238C>A p.P2080T Substitution - Missense Central_nervous_system COSM3917051 PRDM5 c.247C>T p.R83C Substitution - Missense Skin COSM1628729 BAZ2A c.412A>G p.N138D Substitution - Missense Liver COSM1582040 NSD1 c.5356_5360delAAGAT p.K1786fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1162944 PRMT3 c.1092T>C p.T364T Substitution - coding silent Pancreas COSM4650034 CLOCK c.1789A>G p.M597V Substitution - Missense Large_intestine COSM4595028 KMT2C c.2681G>A p.R894Q Substitution - Missense Breast COSM4990560 ARID1A c.6312C>T p.S2104S Substitution - coding silent Skin COSM1137600 MLL5 c.556+2T>C p.? Unknown Kidney COSM41294 IDH1 c.? p.R132C Substitution - Missense Soft_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3236923 BRD8 c.3338_3341delTGCC p.L1113fs*5 Deletion - Frameshift Upper_aerodigestive_tract COSM4606364 PHF6 c.?_?ins11 p.C242fs*? Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4701405 MECP2 c.179G>A p.G60D Substitution - Missense Large_intestine COSM5031864 ATRX c.1599G>C p.E533D Substitution - Missense Pancreas COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3341097 NSD1 c.3091C>T p.R1031* Substitution - Nonsense Oesophagus COSM2191100 RAD54L c.336_337insT p.L113fs*10 Insertion - Frameshift Large_intestine COSM5985546 DNMT3A c.768delC p.T257fs*59 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4591233 NCOR1 c.534G>C p.K178N Substitution - Missense Upper_aerodigestive_tract COSM5014770 KMT2C c.5363T>G p.F1788C Substitution - Missense Kidney COSM5475565 SUV420H1 c.1784C>T p.A595V Substitution - Missense Large_intestine COSM1099532 ASH2L c.297G>A p.A99A Substitution - coding silent Endometrium COSM720831 ING5 c.679T>C p.W227R Substitution - Missense Lung COSM4663899 ASXL1 c.4488C>G p.S1496R Substitution - Missense Large_intestine COSM5572802 AKAP1 c.2051A>G p.Y684C Substitution - Missense Prostate COSM3186033 MSH6 c.3253_3254insCC p.F1088fs*3 Insertion - Frameshift Breast COSM3358325 EHMT1 c.2645C>T p.A882V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM487128 PRDM12 c.450C>A p.I150I Substitution - coding silent Kidney COSM1225364 SETD3 c.1484A>G p.E495G Substitution - Missense Large_intestine COSM3734250 DAXX c.707T>A p.F236Y Substitution - Missense Pancreas COSM4951069 ARID1A c.1113delG p.Q372fs*19 Deletion - Frameshift Liver COSM3715434 JARID2 c.1655C>T p.A552V Substitution - Missense Upper_aerodigestive_tract COSM3089623 EHMT1 c.818C>A p.T273N Substitution - Missense Oesophagus COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM929353 PHRF1 c.2328C>T p.F776F Substitution - coding silent Endometrium COSM3750243 TRIM33 c.1146A>G p.Q382Q Substitution - coding silent Soft_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5943608 LBR c.893-5delT p.? Unknown Skin COSM689354 PHRF1 c.2776G>T p.G926C Substitution - Missense Lung COSM1444081 BRPF3 c.2112C>T p.P704P Substitution - coding silent Large_intestine COSM3827753 NSD1 c.4211G>A p.R1404H Substitution - Missense Breast COSM4771210 BPTF c.3296C>T p.S1099L Substitution - Missense Pleura COSM5020839 DAXX c.1914A>G p.Q638Q Substitution - coding silent Soft_tissue COSM4162002 KMT2C c.2656C>T p.R886C Substitution - Missense Thyroid COSM347772 CHD7 c.3451T>A p.L1151M Substitution - Missense Lung COSM5506830 PHC3 c.2332_2341del10 p.F778fs*79 Deletion - Frameshift Biliary_tract COSM4169549 DNMT3A c.? p.V809fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM5963168 KAT5 c.1030-9C>G p.? Unknown Breast COSM1609211 SRCAP c.6603C>A p.F2201L Substitution - Missense Liver COSM4804512 PHRF1 c.1605G>T p.A535A Substitution - coding silent Liver COSM487376 TAF1L c.358A>G p.S120G Substitution - Missense Kidney COSM3917612 WHSC1 c.2824G>A p.G942R Substitution - Missense Skin COSM4997790 SMCHD1 c.2057G>A p.W686* Substitution - Nonsense Pancreas COSM162181 LMNA c.814G>T p.D272Y Substitution - Missense Breast COSM3968237 KMT2D c.14993T>C p.I4998T Substitution - Missense Central_nervous_system COSM3998823 KMT2D c.907C>T p.L303L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4037735 KDM4D c.633T>C p.T211T Substitution - coding silent Stomach COSM3596041 BAP1 c.88G>A p.E30K Substitution - Missense Skin COSM1027425 NCOA5 c.1037T>C p.I346T Substitution - Missense Endometrium COSM3780367 FMR1 c.1886A>T p.N629I Substitution - Missense Pancreas COSM146206 MGMT c.415-2A>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4023392 HDGF c.341C>A p.P114Q Substitution - Missense Stomach COSM1615689 ZMYND8 c.2638G>A p.V880M Substitution - Missense Liver COSM4410765 ATAD2B_ENST00000238789 c.2290T>G p.S764A Substitution - Missense Kidney COSM6012318 TDRD6 c.514G>A p.D172N Substitution - Missense Skin COSM3637557 STK31 c.2331C>T p.Y777Y Substitution - coding silent Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1439364 PRDM13 c.1922G>A p.R641H Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1633954 BRD8 c.2266A>G p.T756A Substitution - Missense Liver COSM4754417 SETD2 c.2263T>G p.L755V Substitution - Missense Stomach COSM1103 SMARCB1 c.?_?del? p.?del Deletion - In frame Soft_tissue COSM1744930 PBRM1 c.3132delT p.F1044fs*115 Deletion - Frameshift Kidney COSM479690 MECOM c.1434T>C p.A478A Substitution - coding silent Kidney COSM5711711 PHF8 c.2542C>T p.R848C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3812559 SMARCC2 c.2156T>G p.V719G Substitution - Missense Breast COSM5881958 TAF3 c.1376G>A p.S459N Substitution - Missense Skin COSM4457848 SIRT2 c.1062C>T p.A354A Substitution - coding silent Skin COSM328698 KDM6A c.4205G>C p.*1402S Nonstop extension Liver COSM1615687 ZMYND8 c.3306G>T p.E1102D Substitution - Missense Prostate COSM1716702 ATRX c.4540C>T p.R1514* Substitution - Nonsense Central_nervous_system COSM356543 PHF16 c.1809C>A p.N603K Substitution - Missense Lung COSM3296106 MBD5 c.599G>A p.R200Q Substitution - Missense Skin COSM4144480 MGMT c.382C>A p.R128R Substitution - coding silent Thyroid COSM379920 SMYD1 c.888G>T p.K296N Substitution - Missense Lung COSM1355396 MTA2 c.325A>G p.T109A Substitution - Missense Large_intestine COSM96933 ATRX c.6457C>T p.R2153C Substitution - Missense Central_nervous_system COSM51200 ASXL1 c.1888_1910del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1583076 DNMT3A c.1609T>G p.C537G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM983317 BPTF c.3293C>A p.S1098Y Substitution - Missense Endometrium COSM1667512 KDM4A c.3041T>C p.V1014A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4997190 EP300 c.2407G>C p.V803L Substitution - Missense Upper_aerodigestive_tract COSM917535 ZMYND11 c.1385G>A p.R462H Substitution - Missense Endometrium COSM5754979 SMYD4 c.1129A>G p.K377E Substitution - Missense Large_intestine COSM3788236 SMARCA2 c.334C>T p.P112S Substitution - Missense Pancreas COSM4742925 ZMYM4 c.2751G>A p.A917A Substitution - coding silent Large_intestine COSM5023389 MYST3 c.2966_2968delAGG p.E993delE Deletion - In frame Bone COSM3775461 TET2 c.2966C>T p.P989L Substitution - Missense Skin COSM318352 EP300 c.3875-2A>G p.? Unknown Lung COSM5639026 DIDO1 c.4428G>C p.Q1476H Substitution - Missense Oesophagus COSM961532 MGA c.7445G>T p.R2482L Substitution - Missense Endometrium COSM5743876 BAHCC1 c.2496delG p.H835fs*139 Deletion - Frameshift Small_intestine COSM437784 BAHCC1 c.7439G>A p.G2480D Substitution - Missense Breast COSM1449410 KMT2C c.9003C>T p.N3001N Substitution - coding silent Large_intestine COSM253866 TP53BP1 c.2689G>T p.E897* Substitution - Nonsense Urinary_tract COSM315459 SMYD5 c.233G>A p.C78Y Substitution - Missense Lung COSM1465246 ZBTB33 c.563_564insTGA p.D194_V195insD Insertion - In frame Upper_aerodigestive_tract COSM4681119 EP400 c.3016A>G p.K1006E Substitution - Missense Large_intestine COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3698152 SND1 c.2239C>T p.R747C Substitution - Missense Large_intestine COSM42016 TET2 c.4393C>T p.R1465* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5046016 KDM6A c.3726_3727insCCA p.P1243_L1244insP Insertion - In frame Oesophagus COSM4151852 EYA1 c.1381A>C p.R461R Substitution - coding silent Ovary COSM1444896 TDRD6 c.615C>A p.F205L Substitution - Missense Large_intestine COSM3672210 GTF3C1 c.5918G>T p.R1973L Substitution - Missense Prostate COSM1718147 BAZ2B c.2677+8delA p.? Unknown Skin COSM5013018 CHD9 c.6415G>T p.E2139* Substitution - Nonsense Kidney COSM5879951 KDM6A c.3788_3789insC p.V1264fs*27 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2098817 ING4 c.317G>A p.R106H Substitution - Missense Stomach COSM3524726 AP001011.3_ENST00000320876 c.658C>T p.R220C Substitution - Missense Skin COSM100051 PRDM1 c.1_2370del2370 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM1318920 DNMT3A c.943delA p.M315fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM231570 DNMT3A c.2353G>A p.V785M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3688848 PRMT6 c.559G>A p.V187M Substitution - Missense Large_intestine COSM289942 KMT2C c.2447_2448insA p.Y816fs*1 Insertion - Frameshift Skin COSM5437781 ZMYM3 c.2454T>C p.P818P Substitution - coding silent Oesophagus COSM488640 ATRX c.266A>T p.Y89F Substitution - Missense Kidney COSM219679 NCOA6 c.5423G>A p.R1808Q Substitution - Missense Breast COSM1286117 MBD5 c.444A>T p.V148V Substitution - coding silent Autonomic_ganglia COSM1194357 PHF16 c.1780C>G p.P594A Substitution - Missense Lung COSM4566503 POGZ c.3965_3966CC>TT p.S1322F Substitution - Missense Skin COSM993 SMARCB1 c.601C>T p.R201* Substitution - Nonsense Central_nervous_system COSM4384084 NSD1 c.4858G>A p.V1620I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3843341 MSL3 c.1279G>A p.E427K Substitution - Missense Breast COSM4725174 SETD5_ENST00000402198 c.2025A>C p.T675T Substitution - coding silent Large_intestine COSM4494052 KAT5 c.425C>T p.P142L Substitution - Missense Skin COSM1583131 DNMT3A c.2602T>G p.F868V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM314409 PRDM2 c.3772G>A p.E1258K Substitution - Missense Lung COSM3882232 BAZ1B c.4142C>T p.T1381M Substitution - Missense Stomach COSM992 SMARCB1 c.472C>T p.R158* Substitution - Nonsense Soft_tissue COSM1638752 KMT2A c.1507C>T p.R503W Substitution - Missense Prostate COSM1506159 KAT6B c.1966G>A p.G656R Substitution - Missense Prostate COSM4765245 MBD6 c.2006_2007insC p.T672fs*45 Insertion - Frameshift Stomach COSM3296123 MBD5 c.1224A>T p.P408P Substitution - coding silent Upper_aerodigestive_tract COSM1021285 MSH6 c.2876G>A p.R959H Substitution - Missense Endometrium COSM1695009 PHF17 c.2135G>A p.G712D Substitution - Missense Skin COSM183186 SMARCB1 c.237C>T p.H79H Substitution - coding silent Stomach COSM53208 ASXL1 c.2415_2415delC p.T806fs*12 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5055482 KAT2A c.1453G>A p.A485T Substitution - Missense Stomach COSM3604093 GABRG1 c.660G>A p.W220* Substitution - Nonsense Skin COSM4164671 DNMT3B c.795C>T p.G265G Substitution - coding silent Kidney COSM1379105 PRMT7 c.1246G>A p.V416M Substitution - Missense Large_intestine COSM4437346 TET2 c.2141C>A p.S714* Substitution - Nonsense Oesophagus COSM4000327 CBX4 c.871T>C p.S291P Substitution - Missense Upper_aerodigestive_tract COSM5944127 EZH2 c.446T>C p.L149P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5752258 ARID1A c.2180_2195del16 p.P728fs*9 Deletion - Frameshift Breast COSM5025219 EYA3 c.245C>T p.S82L Substitution - Missense Breast COSM1426217 TET2 c.4208A>G p.N1403S Substitution - Missense Large_intestine COSM1713383 NCOA6 c.6109C>T p.R2037* Substitution - Nonsense Liver COSM3689612 PRDM16 c.3607G>A p.E1203K Substitution - Missense Large_intestine COSM5214440 ARID1A c.3447delA p.T1150fs*11 Deletion - Frameshift Breast COSM1624857 SMARCA2 c.3559G>C p.A1187P Substitution - Missense Liver COSM5646384 PBRM1 c.4695_4696insT p.M1566fs*>18 Insertion - Frameshift Oesophagus COSM4327961 SETD5_ENST00000402198 c.3656A>G p.E1219G Substitution - Missense Large_intestine COSM2027705 MTA1 c.1906_1907insG p.S639fs*18 Insertion - Frameshift Large_intestine COSM96806 MGA c.3725G>C p.R1242P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5479720 KIAA2026_ENST00000399933 c.1433G>T p.G478V Substitution - Missense Large_intestine COSM737916 NIPBL c.268G>T p.G90C Substitution - Missense Lung COSM4168269 PHF6 c.806T>C p.L269P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM21471 HNF1A c.617G>T p.W206L Substitution - Missense Liver COSM3366539 TDRD6 c.824A>C p.E275A Substitution - Missense Kidney COSM377771 PHF2 c.2088G>C p.K696N Substitution - Missense Lung COSM5417530 ATRX c.1050A>C p.K350N Substitution - Missense Endometrium COSM2150337 TIF1 c.1172G>A p.R391H Substitution - Missense Central_nervous_system COSM444569 AIRE c.1197T>C p.A399A Substitution - coding silent Thyroid COSM5761317 ZMYM5 c.1028A>C p.K343T Substitution - Missense Pancreas COSM1299023 KDM2B c.199G>T p.E67* Substitution - Nonsense Urinary_tract COSM21487 HNF1A c.526+1G>A p.? Unknown Liver COSM3731895 ASH2L c.1621-6delT p.? Unknown Stomach COSM5376557 RNF17 c.1777G>A p.E593K Substitution - Missense Skin COSM84135 AICDA c.331G>A p.A111T Substitution - Missense Biliary_tract COSM3562291 KDM5C c.1048C>T p.H350Y Substitution - Missense Skin COSM3545258 ASXL1 c.3817C>T p.R1273C Substitution - Missense Skin COSM3918705 KDM3B c.1897C>T p.P633S Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1226785 SMARCC1 c.2090G>A p.S697N Substitution - Missense Large_intestine COSM5893304 NCOA2 c.364-6C>T p.? Unknown Skin COSM1306526 SP100 c.16G>A p.G6S Substitution - Missense Urinary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4448188 UHRF1 c.1303C>T p.P435S Substitution - Missense Skin COSM5945695 ATRX c.? p.R2197C Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2169521 SCMH1 c.857G>A p.S286N Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5967513 MSH6 c.3557-?_3646+?del p.? Unknown Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3811516 EP400 c.8973C>A p.S2991S Substitution - coding silent Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1619532 KDM3B c.4934A>T p.D1645V Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3825659 WHSC1 c.2834G>C p.G945A Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1251051 EHMT2 c.3330C>A p.F1110L Substitution - Missense Oesophagus COSM1627572 JMJD1C c.4765A>G p.I1589V Substitution - Missense Upper_aerodigestive_tract COSM5652272 LMNA c.712G>A p.E238K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1162779 BAZ1A c.136C>G p.L46V Substitution - Missense Pancreas COSM4504263 ACTB c.660C>T p.A220A Substitution - coding silent Skin COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM1583099 DNMT3A c.2150A>G p.N717S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM292731 CHD1 c.3960delA p.E1321fs*22 Deletion - Frameshift Stomach COSM3233474 FMR1 c.1378A>G p.S460G Substitution - Missense Upper_aerodigestive_tract COSM4603312 EP400 c.8184_8185insCAG p.Q2748_T2749insQ Insertion - In frame Upper_aerodigestive_tract COSM1716644 ATRX c.1990_1991ins62 p.L664fs*1 Insertion - Frameshift Central_nervous_system COSM988836 MBD1 c.562T>A p.C188S Substitution - Missense Endometrium COSM4980932 BRDT c.147A>T p.S49S Substitution - coding silent Oesophagus COSM132970 ASXL1 c.? p.G659fs*9 Frameshift Haematopoietic_and_lymphoid_tissue COSM1075367 ARID1B c.6621C>A p.I2207I Substitution - coding silent Endometrium COSM88500 AICDA c.532C>T p.R178C Substitution - Missense Large_intestine COSM255312 SMARCA4 c.3727C>T p.R1243W Substitution - Missense Pancreas COSM3509548 CREBBP c.7086C>T p.S2362S Substitution - coding silent Skin COSM4022251 POGZ c.574G>T p.G192C Substitution - Missense Stomach COSM4725328 SFMBT2 c.581T>A p.L194H Substitution - Missense Large_intestine COSM3824310 BAP1 c.1291G>A p.G431S Substitution - Missense Breast COSM342618 WHSC1L1 c.721G>T p.E241* Substitution - Nonsense Lung COSM4425607 INOC1 c.465A>G p.E155E Substitution - coding silent Oesophagus COSM5764815 PBRM1 c.2504G>A p.R835H Substitution - Missense Large_intestine COSM5019733 KMT2D c.9861A>G p.P3287P Substitution - coding silent Soft_tissue COSM144519 TET2 c.4303C>T p.Q1435* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1626156 BRWD3 c.3146A>G p.Q1049R Substitution - Missense Liver COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43420 TET2 c.4546C>T p.R1516* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM73384 ZMYM4 c.2149G>A p.D717N Substitution - Missense Ovary COSM87960 KMT2C c.7825C>T p.R2609* Substitution - Nonsense Stomach COSM112087 TDG c.286_287insA p.I98fs*6 Insertion - Frameshift Upper_aerodigestive_tract COSM136288 ATF2 c.272C>T p.P91L Substitution - Missense Skin COSM144490 DNMT3A c.1604_1605ins21 p.S535>YDDDGYQS Complex - insertion inframe Haematopoietic_and_lymphoid_tissue COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Central_nervous_system COSM159982 CHD6 c.133G>A p.E45K Substitution - Missense Breast COSM211615 TET2 c.3009G>A p.W1003* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM217036 ARID1A c.3817_3841del25 p.G1274fs*7 Deletion - Frameshift Liver COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Large_intestine COSM239627 DNMT1 c.4039G>A p.D1347N Substitution - Missense Prostate COSM255016 KDM6A c.1105C>T p.Q369* Substitution - Nonsense Urinary_tract COSM268266 INOC1 c.2788C>T p.R930C Substitution - Missense Large_intestine COSM250853 BRWD1 c.4808A>G p.Y1603C Substitution - Missense Liver COSM287292 GLYR1 c.1140_1141insG p.R381fs*15 Insertion - Frameshift Breast COSM296648 ZMYND11 c.351G>A p.E117E Substitution - coding silent Large_intestine COSM337702 PRDM15 c.521G>T p.R174L Substitution - Missense Lung COSM354687 KIAA2026_ENST00000399933 c.5921G>T p.S1974I Substitution - Missense Lung COSM433834 MGA c.4971T>A p.N1657K Substitution - Missense Breast COSM468375 ARID2 c.678A>G p.K226K Substitution - coding silent Kidney COSM1646001 SETDB1 c.1226T>C p.L409P Substitution - Missense Lung COSM613874 ATRX c.7064C>T p.S2355L Substitution - Missense Large_intestine COSM484586 MLL5 c.5037A>C p.P1679P Substitution - coding silent Thyroid COSM914346 ASXL1 c.1935_1936insT p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM917773 EPC1 c.1608A>G p.L536L Substitution - coding silent Endometrium COSM753642 TAF1L c.3957G>A p.E1319E Substitution - coding silent Lung COSM708662 BAHCC1 c.5560G>A p.E1854K Substitution - Missense Lung COSM914322 PCGF6 c.261_263delAGA p.E89delE Deletion - In frame Endometrium COSM895854 POGZ c.147C>A p.V49V Substitution - coding silent Endometrium COSM1007214 MBD5 c.841C>T p.H281Y Substitution - Missense Endometrium COSM1067653 NIPBL c.1263G>A p.S421S Substitution - coding silent Stomach COSM1600258 NCOA1 c.2606C>A p.P869H Substitution - Missense Central_nervous_system COSM1124911 TAF1 c.3698G>A p.R1233Q Substitution - Missense Endometrium COSM1123040 SMC1A c.552T>G p.F184L Substitution - Missense Endometrium COSM1095755 ATAD2 c.2433A>G p.P811P Substitution - coding silent Endometrium COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1184480 BAZ2A c.2263C>T p.Q755* Substitution - Nonsense Large_intestine COSM1217362 NIPBL c.922C>T p.R308* Substitution - Nonsense Large_intestine COSM1158331 DOT1L c.965T>G p.L322R Substitution - Missense Pancreas COSM1289065 ZMYM1 c.881G>C p.S294T Substitution - Missense Autonomic_ganglia COSM1387384 CHD3 c.5786C>T p.P1929L Substitution - Missense Stomach COSM1457746 CHD7 c.7469C>T p.S2490L Substitution - Missense Large_intestine COSM1363776 CHD4 c.417G>T p.E139D Substitution - Missense Soft_tissue COSM1566684 PBRM1 c.2211A>G p.T737T Substitution - coding silent Soft_tissue COSM1609877 NCOR1 c.1714C>T p.R572* Substitution - Nonsense Liver COSM1614494 SP140_ENST00000392045 c.816G>C p.E272D Substitution - Missense Liver COSM1620277 NIPBL c.8131A>G p.I2711V Substitution - Missense Liver COSM1633206 SMARCC1 c.1367C>G p.S456* Substitution - Nonsense Liver COSM1665077 ZCWPW2 c.656G>T p.R219M Substitution - Missense Breast COSM2030124 CHD8 c.2604G>A p.L868L Substitution - coding silent Stomach COSM2069229 RNF17 c.817G>T p.E273* Substitution - Nonsense Large_intestine COSM2156557 SMARCA2 c.667_669delCAG p.Q238delQ Deletion - In frame Large_intestine COSM2859907 TIF1 c.2150delA p.N718fs*14 Deletion - Frameshift Large_intestine COSM2859912 TRIM24 c.2299A>G p.S767G Substitution - Missense Large_intestine COSM2889472 DNMT3B c.66C>T p.L22L Substitution - coding silent Upper_aerodigestive_tract COSM3095841 TAF1 c.4717A>G p.N1573D Substitution - Missense Large_intestine COSM3223119 SIRT2 c.1073C>T p.A358V Substitution - Missense Large_intestine COSM3379810 BAZ2B c.949A>G p.T317A Substitution - Missense Pancreas COSM3378480 ASXL3 c.1593G>A p.P531P Substitution - coding silent Pancreas COSM3395311 WHSC1L1 c.886G>T p.V296F Substitution - Missense Pancreas COSM3379069 ZMYND8 c.3486G>A p.S1162S Substitution - coding silent Pancreas COSM3379108 DIDO1 c.6489C>T p.A2163A Substitution - coding silent Pancreas COSM3398931 MBD6 c.2789C>T p.P930L Substitution - Missense Central_nervous_system COSM3396081 BAZ2A c.4687C>T p.R1563W Substitution - Missense Prostate COSM3432136 PHF20L1 c.196C>T p.R66* Substitution - Nonsense Prostate COSM3415347 BTAF1 c.2136G>A p.Q712Q Substitution - coding silent Large_intestine COSM3423985 DNMT3L c.715G>A p.D239N Substitution - Missense Skin COSM3630088 PHIP c.163G>A p.E55K Substitution - Missense Skin COSM3590015 PHC3 c.1691C>T p.P564L Substitution - Missense Skin COSM3526243 CXXC1 c.307C>T p.R103W Substitution - Missense Skin COSM3662775 MLL5 c.169A>G p.I57V Substitution - Missense Liver COSM3650087 CHD7 c.7502C>T p.S2501F Substitution - Missense Skin COSM3656836 TAF1L c.4376C>T p.P1459L Substitution - Missense Skin COSM3683967 SIRT5 c.422A>T p.N141I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3712648 AP001011.3_ENST00000320876 c.4178G>T p.S1393I Substitution - Missense Upper_aerodigestive_tract COSM3710882 SMYD3 c.505G>C p.D169H Substitution - Missense Upper_aerodigestive_tract COSM3778336 STK31 c.1759C>T p.Q587* Substitution - Nonsense Urinary_tract COSM3804819 ARID1A c.3819G>A p.M1273I Substitution - Missense Breast COSM3787125 GTF3C1 c.5957C>T p.P1986L Substitution - Missense Pancreas COSM3839972 SMYD5 c.585G>A p.Q195Q Substitution - coding silent Breast COSM3885836 CHD8 c.647C>T p.S216F Substitution - Missense Skin COSM3901345 NCOA2 c.1113T>C p.H371H Substitution - coding silent Stomach COSM3972382 KDM3A c.1706G>A p.R569H Substitution - Missense Central_nervous_system COSM4049557 MTA1 c.909T>C p.Y303Y Substitution - coding silent Stomach COSM4046317 MPHOSPH8 c.2046C>T p.I682I Substitution - coding silent Stomach COSM4040287 EP400 c.7810G>A p.A2604T Substitution - Missense Stomach COSM4046662 RNF17 c.481A>C p.S161R Substitution - Missense Stomach COSM4066854 HDAC5 c.2309C>A p.P770H Substitution - Missense Stomach COSM4130365 MYST2 c.1500C>T p.V500V Substitution - coding silent Thyroid COSM4129002 SETD1A c.3622C>A p.R1208S Substitution - Missense Thyroid COSM4143815 PRDM16 c.1898C>T p.P633L Substitution - Missense Thyroid COSM4152464 SMARCC1 c.2674A>G p.I892V Substitution - Missense Kidney COSM4162010 KMT2C c.2573G>T p.W858L Substitution - Missense Thyroid COSM4164422 SP100 c.1958A>T p.K653M Substitution - Missense Kidney COSM4166952 KAT5 c.1399G>A p.G467R Substitution - Missense Pituitary COSM4170391 KMT2D c.14873A>G p.Y4958C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4188125 DHX30 c.884G>A p.R295H Substitution - Missense Kidney COSM4596520 NCOA7 c.2723A>T p.D908V Substitution - Missense Upper_aerodigestive_tract COSM4444919 DHX30 c.1646G>A p.S549N Substitution - Missense Large_intestine COSM4426437 CHD9 c.8287T>A p.S2763T Substitution - Missense Oesophagus COSM4533472 KMT2D c.1986G>T p.L662L Substitution - coding silent Skin COSM4495283 EP400 c.4505C>T p.P1502L Substitution - Missense Skin COSM4512443 SETD7 c.902C>T p.P301L Substitution - Missense Skin COSM4538148 SMARCA4 c.2507G>A p.G836E Substitution - Missense Skin COSM4432604 SETD1A c.4660G>T p.D1554Y Substitution - Missense Oesophagus COSM4657549 PHRF1 c.2696C>T p.S899F Substitution - Missense Parathyroid COSM4717479 PRDM15 c.3845_3846delTG p.L1282fs*72 Deletion - Frameshift Large_intestine COSM4703377 MSH6 c.1694T>C p.L565P Substitution - Missense Large_intestine COSM4729247 SP110 c.1036T>C p.S346P Substitution - Missense Large_intestine COSM4624870 PCGF1 c.206A>G p.Y69C Substitution - Missense Large_intestine COSM4609819 DAXX c.1306_1307delGA p.D436fs*1 Deletion - Frameshift Adrenal_gland COSM4775554 KMT2C c.9518-6delC p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4804870 MSH6 c.3068A>G p.E1023G Substitution - Missense Liver COSM4943116 RAI1 c.1231G>T p.A411S Substitution - Missense Liver COSM4927676 KMT2A c.6891G>A p.V2297V Substitution - coding silent Liver COSM4856363 TTF2 c.3187G>T p.V1063L Substitution - Missense Cervix COSM4836850 SIRT6 c.787A>C p.T263P Substitution - Missense Cervix COSM4823952 BRWD3 c.2326-1G>A p.? Unknown Cervix COSM4950448 CHD7 c.2666A>C p.D889A Substitution - Missense Liver COSM5000814 SMARCA5 c.873T>G p.I291M Substitution - Missense Pancreas COSM4984989 HNF1A c.1460G>A p.S487N Substitution - Missense Liver COSM4975395 PHC3 c.1115C>G p.S372* Substitution - Nonsense Oesophagus COSM4982180 KMT2D c.4684G>T p.E1562* Substitution - Nonsense Oesophagus COSM5014564 SIRT5 c.240G>A p.W80* Substitution - Nonsense Kidney COSM5050732 SIRT3 c.1108G>A p.V370M Substitution - Missense Stomach COSM5060395 CLOCK c.1875_1877delACA p.Q626delQ Deletion - In frame Stomach COSM5081223 ATRX c.5698-1G>C p.? Unknown Large_intestine COSM5176737 EYA4 c.1223G>A p.R408H Substitution - Missense Large_intestine COSM5049330 GTF3C4 c.1498G>T p.G500C Substitution - Missense Oesophagus COSM5040607 CREBBP c.4499A>T p.Q1500L Substitution - Missense Liver COSM5409827 NCOA2 c.2008G>A p.G670S Substitution - Missense Skin COSM5413619 KMT2C c.7443-7_7443-6delTT p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5480997 EP400 c.8905G>A p.A2969T Substitution - Missense Large_intestine COSM5483726 HNF1A c.1755C>T p.S585S Substitution - coding silent Large_intestine COSM5423269 TRRAP c.3448T>A p.Y1150N Substitution - Missense Prostate COSM5422644 MLL5 c.3403C>T p.R1135W Substitution - Missense Prostate COSM5720825 ARID1B c.2861C>T p.P954L Substitution - Missense Skin COSM5739841 SETD1B c.938C>A p.P313H Substitution - Missense Small_intestine COSM5607055 SND1 c.2198G>A p.G733E Substitution - Missense Skin COSM5556678 PHF21A c.1740C>T p.H580H Substitution - coding silent Prostate COSM5791109 EYA1 c.272+6A>T p.? Unknown Breast COSM5835956 KDM6A c.376delT p.Y126fs*54 Deletion - Frameshift Breast COSM5799419 PHF20 c.88C>T p.P30S Substitution - Missense Breast COSM5821487 WHSC1L1 c.842A>T p.Y281F Substitution - Missense Liver COSM5810418 KDM3B c.2895C>T p.D965D Substitution - coding silent Liver COSM5949890 CREBBP c.4944delC p.I1649fs*95 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5936341 PHF12 c.610C>T p.P204S Substitution - Missense Skin COSM5912984 WDR5 c.647C>T p.P216L Substitution - Missense Skin COSM5985540 KDM6A c.4088_4089insA p.T1365fs*24 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5998930 KAT6B c.606C>A p.P202P Substitution - coding silent Prostate COSM5976232 TRIM24 c.1289G>A p.S430N Substitution - Missense Upper_aerodigestive_tract COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM166348 DNMT3A c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM42090 TET2 c.1925_1925delA p.Q642fs*58 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1666941 ASXL1 c.? p.S1166R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM255104 MEN1 c.? p.E45K Substitution - Missense Parathyroid COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM1749639 BRD7 c.130C>A p.H44N Substitution - Missense Urinary_tract COSM923567 KMT2A c.711T>C p.H237H Substitution - coding silent Endometrium COSM86082 KMT2C c.2418C>G p.S806S Substitution - coding silent Soft_tissue COSM3727849 TRIM66 c.1888C>G p.L630V Substitution - Missense Upper_aerodigestive_tract COSM4118120 DHX30 c.3216A>G p.R1072R Substitution - coding silent Stomach COSM993746 DOT1L c.1407G>T p.R469R Substitution - coding silent Endometrium COSM3706553 RTF1 c.1582G>C p.D528H Substitution - Missense Liver COSM1626134 ATRX c.5270A>C p.E1757A Substitution - Missense Liver COSM266403 DNMT1 c.1294G>A p.E432K Substitution - Missense Large_intestine COSM1633699 GABRG1 c.1324T>C p.Y442H Substitution - Missense Liver COSM5945459 EP300 c.3682A>T p.K1228* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM2098562 CHD4 c.1917C>T p.H639H Substitution - coding silent Skin COSM5441450 KIAA2026_ENST00000399933 c.462C>T p.I154I Substitution - coding silent Oesophagus COSM985460 CHD3 c.2242C>T p.R748C Substitution - Missense Endometrium COSM4836251 KDM5A c.3283G>A p.E1095K Substitution - Missense Cervix COSM87108 TET2 c.2692G>T p.G898* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3447390 PRDM11 c.510C>T p.I170I Substitution - coding silent Skin COSM1104695 PHF19 c.223G>A p.E75K Substitution - Missense Endometrium COSM88088 KMT2D c.14732G>A p.G4911E Substitution - Missense Central_nervous_system COSM1087511 KMT2C c.14078G>A p.R4693Q Substitution - Missense Endometrium COSM5974437 HDAC10 c.1786A>G p.M596V Substitution - Missense Upper_aerodigestive_tract COSM423150 PBRM1 c.3996delA p.D1333fs*51 Deletion - Frameshift Kidney COSM3555672 HDAC10 c.944G>A p.C315Y Substitution - Missense Skin COSM3578902 SP140_ENST00000392045 c.1627G>A p.D543N Substitution - Missense Skin COSM5726781 CHD9 c.2717G>A p.G906D Substitution - Missense Skin COSM254812 KMT2A c.11348C>G p.S3783C Substitution - Missense Urinary_tract COSM5751875 SETD2 c.274_275insA p.S92fs*4 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1671835 LMNB1 c.758A>G p.H253R Substitution - Missense Breast COSM984756 JMJD6 c.1176C>T p.D392D Substitution - coding silent Endometrium COSM1268752 TRRAP c.520G>A p.E174K Substitution - Missense Stomach COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6016150 SETD1A c.224C>T p.S75F Substitution - Missense Skin COSM4992298 NSD1 c.4446_4447delGT p.C1483fs*1 Deletion - Frameshift Skin COSM5944250 TET2 c.905_906delAT p.D302fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1362049 KMT2D c.4122C>T p.T1374T Substitution - coding silent Large_intestine COSM5889685 DNMT3A c.1520C>T p.P507L Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM249229 TET2 c.1567G>T p.G523* Substitution - Nonsense Kidney COSM1248203 CHD2 c.1188A>G p.T396T Substitution - coding silent Stomach COSM4516732 SETD5_ENST00000402198 c.2236_2237CC>TT p.P746L Substitution - Missense Skin COSM5019922 KDM6B c.456+6A>G p.? Unknown Soft_tissue COSM5612002 SUV420H2 c.46G>T p.D16Y Substitution - Missense Adrenal_gland COSM3702600 GABRG1 c.1048G>T p.E350* Substitution - Nonsense Liver COSM370709 KAT6B c.2054A>G p.K685R Substitution - Missense Lung COSM339350 MBD1 c.1584+1G>A p.? Unknown Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3599594 PRDM5 c.181C>T p.R61C Substitution - Missense Skin COSM4726195 SIRT1 c.1289A>C p.K430T Substitution - Missense Large_intestine COSM287591 TRIM24 c.3104C>T p.P1035L Substitution - Missense Large_intestine COSM4149566 PHF2 c.3015G>T p.Q1005H Substitution - Missense Ovary COSM145775 PHC2 c.355C>A p.Q119K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM271715 ARID2 c.1552_1555delATAG p.D519fs*9 Deletion - Frameshift Large_intestine COSM4820455 TRRAP c.3819G>T p.K1273N Substitution - Missense Cervix COSM5600456 SETD5_ENST00000402198 c.974T>G p.V325G Substitution - Missense Skin COSM3356534 ACTA1 c.661G>A p.V221M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4447023 RBBP5 c.219-3C>G p.? Unknown Skin COSM1067094 PRDM9 c.2496T>C p.Y832Y Substitution - coding silent Prostate COSM4515316 KDM4A c.1036_1037CC>TT p.P346F Substitution - Missense Skin COSM5498709 BRWD3 c.814-5_814-4delTT p.? Unknown Biliary_tract COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5996865 PHF3 c.4456T>G p.S1486A Substitution - Missense Prostate COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM5419536 ASXL1 c.152C>T p.S51F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3407878 MSH6 c.965C>T p.A322V Substitution - Missense Skin COSM5363372 SRCAP c.510C>T p.I170I Substitution - coding silent Large_intestine COSM1616067 BRWD1 c.4455T>G p.A1485A Substitution - coding silent Liver COSM692225 EP400 c.4710A>T p.I1570I Substitution - coding silent Lung COSM218863 ARID1B c.3281G>A p.G1094D Substitution - Missense Pancreas COSM1103014 TDRD7 c.2488C>T p.R830C Substitution - Missense Endometrium COSM1578556 CREBBP c.2491_2497delAACCCTC p.N831fs*16 Deletion - Frameshift Meninges COSM1955351 EPC1 c.93C>T p.Y31Y Substitution - coding silent Large_intestine COSM41294 IDH1 c.? p.R132C Substitution - Missense Biliary_tract COSM1668036 ASH1L c.2503G>T p.E835* Substitution - Nonsense Lung COSM1411131 DNMT3B c.1846G>A p.V616M Substitution - Missense Large_intestine COSM1377034 GTF3C1 c.1092C>T p.F364F Substitution - coding silent Skin COSM1609129 GTF3C1 c.3090A>G p.S1030S Substitution - coding silent Liver COSM1235370 ARID1A c.1043C>A p.A348D Substitution - Missense Breast COSM4170411 KMT2D c.11327G>A p.G3776E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5378661 TDRD5 c.739G>A p.E247K Substitution - Missense Skin COSM486567 CHD7 c.5380C>A p.L1794I Substitution - Missense Kidney COSM1262934 PRDM1 c.1262C>A p.P421H Substitution - Missense Oesophagus COSM4169521 TET2 c.? p.P1460S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4543362 PRDM10 c.336G>A p.E112E Substitution - coding silent Skin COSM5650454 SMARCC2 c.2932G>T p.A978S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM86158 SETD5_ENST00000402198 c.56T>C p.M19T Substitution - Missense Ovary COSM107349 CHD6 c.4402G>T p.V1468F Substitution - Missense Skin COSM431203 KMT2D c.10026G>A p.Q3342Q Substitution - coding silent Soft_tissue COSM4096140 KDM3A c.3376G>A p.A1126T Substitution - Missense Stomach COSM1026116 NCOA6 c.178G>T p.D60Y Substitution - Missense Endometrium COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Prostate COSM466081 BTAF1 c.101A>T p.K34M Substitution - Missense Kidney COSM1989197 MBD6 c.79C>T p.R27C Substitution - Missense Large_intestine COSM118867 EHMT2 c.1854T>G p.L618L Substitution - coding silent Ovary COSM483495 SHPRH c.2046G>T p.L682L Substitution - coding silent Kidney COSM216777 KMT2C c.5065G>T p.E1689* Substitution - Nonsense Pancreas COSM1209390 HDAC6 c.649G>A p.A217T Substitution - Missense Large_intestine COSM1369014 CHD8 c.3144T>G p.I1048M Substitution - Missense Large_intestine COSM1304125 MBD3 c.384G>A p.Q128Q Substitution - coding silent Urinary_tract COSM3750243 TRIM33 c.1146A>G p.Q382Q Substitution - coding silent Soft_tissue COSM211773 ARID1A c.1996_2000delATTTC p.I666fs*8 Deletion - Frameshift Endometrium COSM395067 CBX2 c.1021C>T p.P341S Substitution - Missense Lung COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5414982 CHD3 c.2096A>G p.K699R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1122191 HDAC6 c.1716C>T p.C572C Substitution - coding silent Endometrium COSM480325 PBRM1 c.3534-1G>C p.? Unknown Kidney COSM255663 ZMYM3 c.1939C>T p.R647* Substitution - Nonsense Stomach COSM1716597 TET2 c.3047_3050delGTGA p.C1016fs*16 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3900883 CHD7 c.7536G>A p.R2512R Substitution - coding silent Stomach COSM3854570 PRDM9 c.1251A>G p.P417P Substitution - coding silent Stomach COSM1211745 KDM4C c.2651C>T p.T884M Substitution - Missense Large_intestine COSM4799543 FMR1 c.1256A>G p.Y419C Substitution - Missense Liver COSM3738485 TET2 c.? p.E294* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM915011 TDRD1 c.674A>C p.K225T Substitution - Missense Endometrium COSM4113320 MBD4 c.1318C>A p.P440T Substitution - Missense Stomach COSM4689582 HCFC1 c.3764delC p.P1255fs*40 Deletion - Frameshift Large_intestine COSM3943995 ZMYM6 c.1954+3A>G p.? Unknown Ovary COSM5595897 MGA c.7473C>T p.L2491L Substitution - coding silent Skin COSM145541 KDM5A c.2758G>T p.D920Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5698327 DOT1L c.3007G>T p.A1003S Substitution - Missense Soft_tissue COSM5760544 BAP1 c.? p.Q393? Unknown Skin COSM4392409 EZH2 c.46C>T p.R16W Substitution - Missense Prostate COSM1048974 SETD5_ENST00000402198 c.588G>T p.Q196H Substitution - Missense Endometrium COSM4665038 BAG6 c.477+1G>A p.? Unknown Large_intestine COSM5470058 BAZ2A c.364A>C p.S122R Substitution - Missense Large_intestine COSM3763347 MYST3 c.4455C>T p.S1485S Substitution - coding silent Soft_tissue COSM3650688 NCOA2 c.1276C>T p.P426S Substitution - Missense Skin COSM5990050 TET2 c.2167_2168insCT p.H724fs*28 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM270575 ZBTB33 c.47G>A p.G16D Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM271165 CHD6 c.647T>C p.L216P Substitution - Missense Large_intestine COSM255001 KDM6A c.560T>G p.L187* Substitution - Nonsense Urinary_tract COSM1296219 ARID1A c.1655C>T p.S552L Substitution - Missense Urinary_tract COSM4934694 CHD3 c.4487C>A p.S1496Y Substitution - Missense Liver COSM87929 KMT2D c.2800_2801insG p.E934fs*4 Insertion - Frameshift Central_nervous_system COSM4672032 CHD4 c.811C>T p.R271W Substitution - Missense Large_intestine COSM255002 KDM6A c.1007A>G p.D336G Substitution - Missense Urinary_tract COSM4273177 BAHCC1 c.5532G>A p.S1844S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1124915 TAF1 c.4475A>G p.E1492G Substitution - Missense Endometrium COSM3668117 SMCHD1 c.269A>T p.Y90F Substitution - Missense Liver COSM4620957 ATF7IP c.1064A>G p.D355G Substitution - Missense Large_intestine COSM942789 ING4 c.118G>A p.A40T Substitution - Missense Endometrium COSM1040972 MECOM c.613C>A p.R205S Substitution - Missense Endometrium COSM5651472 DPF2 c.868G>A p.E290K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4591210 PRDM14 c.187G>C p.A63P Substitution - Missense Upper_aerodigestive_tract COSM41217 TET2 c.3965_3966insA p.E1323fs*16 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4500047 ASH1L c.5569C>T p.P1857S Substitution - Missense Skin COSM1125420 ATRX c.5375C>A p.S1792Y Substitution - Missense Endometrium COSM3650064 CHD7 c.297G>C p.A99A Substitution - coding silent Skin COSM3488898 ZMYM4 c.3615G>A p.L1205L Substitution - coding silent Skin COSM1380021 CDYL2 c.743G>A p.R248Q Substitution - Missense Large_intestine COSM4042123 HDAC7 c.1993C>T p.R665W Substitution - Missense Stomach COSM3694290 MSL3 c.277C>T p.R93C Substitution - Missense Large_intestine COSM168089 KMT2D c.6251delC p.P2084fs*30 Deletion - Frameshift Large_intestine COSM4605320 TET2 c.4140T>C p.H1380H Substitution - coding silent Soft_tissue COSM4058015 CHD2 c.649G>A p.A217T Substitution - Missense Stomach COSM4637253 KMT2A c.5388T>G p.P1796P Substitution - coding silent Large_intestine COSM1372831 MGA c.6448T>G p.L2150V Substitution - Missense Cervix COSM681093 PRDM16 c.740G>T p.R247L Substitution - Missense Lung COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1017597 SP140_ENST00000392045 c.651A>G p.L217L Substitution - coding silent Endometrium COSM5353473 PHC2 c.919C>T p.R307W Substitution - Missense Large_intestine COSM3783942 SHPRH c.1974C>T p.R658R Substitution - coding silent Prostate COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM970552 CREBBP c.5344G>A p.A1782T Substitution - Missense Endometrium COSM272705 FXR1 c.364delA p.N124fs*14 Deletion - Frameshift Large_intestine COSM5047850 KMT2C c.4439C>G p.S1480* Substitution - Nonsense Prostate COSM1681998 PRDM15 c.2449C>T p.H817Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4998187 PHF3 c.52G>T p.D18Y Substitution - Missense Pancreas COSM4037222 EED c.695T>C p.V232A Substitution - Missense Stomach COSM3460459 KDM5A c.4274C>T p.P1425L Substitution - Missense Skin COSM4593173 CBX4 c.691A>C p.N231H Substitution - Missense Upper_aerodigestive_tract COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2740179 RAI1 c.1011C>A p.T337T Substitution - coding silent Large_intestine COSM4073755 DNMT1 c.1246C>T p.H416Y Substitution - Missense Stomach COSM1169663 SMARCB1 c.243C>G p.Y81* Substitution - Nonsense Bone COSM5752684 DNMT3A c.2524C>T p.Q842* Substitution - Nonsense Breast COSM4532778 SMCHD1 c.262G>A p.E88K Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3720897 ATAD2B_ENST00000238789 c.4297C>G p.R1433G Substitution - Missense Upper_aerodigestive_tract COSM4603233 DIDO1 c.4878_4879insC p.A1627fs*53 Insertion - Frameshift Upper_aerodigestive_tract COSM4169837 KDM5C c.2042G>T p.R681L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3758928 DNMT3L c.832A>G p.R278G Substitution - Missense Thyroid COSM1637060 DNMT3A c.1717_1725delCAGGCAGCC p.Q573_A575delQAA Deletion - In frame Bone COSM3474518 GATAD2B c.28C>T p.R10C Substitution - Missense Oesophagus COSM1100800 CHD7 c.2572C>T p.R858* Substitution - Nonsense Large_intestine COSM5631744 TDG c.1125C>T p.F375F Substitution - coding silent Oesophagus COSM3734847 TRRAP c.367-10delT p.? Unknown Haematopoietic_and_lymphoid_tissue COSM34090 IDH2 c.516G>T p.R172S Substitution - Missense Soft_tissue COSM4387384 JMJD1C c.5206-9A>G p.? Unknown Lung COSM1580705 CHD3 c.861G>T p.K287N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5031085 KDM6A c.3331_3331C>TGGG p.R1111>WG Complex - insertion inframe Haematopoietic_and_lymphoid_tissue COSM1672467 TDRD6 c.1664C>T p.A555V Substitution - Missense Large_intestine COSM4007355 ZMYM4 c.3628G>A p.G1210R Substitution - Missense Stomach COSM1568289 PHF3 c.2481C>G p.V827V Substitution - coding silent Large_intestine COSM264181 TRDMT1 c.211G>A p.D71N Substitution - Missense Large_intestine COSM4106110 MSL3 c.957G>A p.T319T Substitution - coding silent Stomach COSM1390031 DNMT1 c.890G>A p.R297Q Substitution - Missense Large_intestine COSM3928333 BAG6 c.1239T>G p.N413K Substitution - Missense Central_nervous_system COSM3845086 PHF8 c.882G>A p.G294G Substitution - coding silent Breast COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM3949279 TDRD6 c.5536A>T p.K1846* Substitution - Nonsense Lung COSM5829737 PBRM1 c.996-5_996-3delTGT p.? Unknown Large_intestine COSM3906852 TAF1L c.649G>A p.A217T Substitution - Missense Stomach COSM985484 CHD3 c.3318C>T p.I1106I Substitution - coding silent Endometrium COSM5169202 PHC3 c.2172T>C p.N724N Substitution - coding silent Large_intestine COSM3407985 INO80B c.932G>A p.R311H Substitution - Missense Prostate COSM3463540 BAZ2A_ENST00000379441 c.1863C>T p.F621F Substitution - coding silent Skin COSM3389742 ACTR5 c.817G>C p.V273L Substitution - Missense Pancreas COSM3393158 KDM3B c.2776A>G p.K926E Substitution - Missense Pancreas COSM4990232 KMT2D c.15589G>A p.G5197S Substitution - Missense Skin COSM2753100 PRMT1 c.1008C>T p.C336C Substitution - coding silent Oesophagus COSM987919 ASXL3 c.1979G>T p.R660I Substitution - Missense Endometrium COSM1478867 CREBBP c.4778C>A p.T1593N Substitution - Missense Breast COSM2720037 CHD7 c.3105C>T p.F1035F Substitution - coding silent Large_intestine COSM5921658 ADNP c.1216C>T p.Q406* Substitution - Nonsense Skin COSM3708114 IDH1 c.343A>G p.K115E Substitution - Missense Liver COSM1123268 PHF8 c.2090C>T p.A697V Substitution - Missense Endometrium COSM4752835 RAG2 c.1132T>C p.F378L Substitution - Missense Stomach COSM4093262 DNMT3A c.2251T>A p.F751I Substitution - Missense Stomach COSM419075 SMYD1 c.341T>G p.V114G Substitution - Missense Upper_aerodigestive_tract COSM4694911 KDM2B c.698C>T p.A233V Substitution - Missense Large_intestine COSM280384 DIDO1 c.4310C>T p.A1437V Substitution - Missense Large_intestine COSM4385373 KDM6A c.1414C>T p.Q472* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3353143 TDRD6 c.5659G>A p.A1887T Substitution - Missense Large_intestine COSM4590050 PRDM10 c.1332A>C p.E444D Substitution - Missense Upper_aerodigestive_tract COSM125340 PHF3 c.3295G>C p.D1099H Substitution - Missense Upper_aerodigestive_tract COSM74288 CTCF c.873G>C p.E291D Substitution - Missense Ovary COSM2027676 MTA1 c.1017+8C>T p.? Unknown Large_intestine COSM427501 EPC1 c.1152+1G>T p.? Unknown Breast COSM4445250 MEN1 c.1336C>T p.R446C Substitution - Missense Adrenal_gland COSM1682028 AIRE c.1546C>A p.L516M Substitution - Missense Large_intestine COSM4996896 ATAD2 c.184G>T p.V62F Substitution - Missense Upper_aerodigestive_tract COSM4702502 KMT2C c.6792G>A p.P2264P Substitution - coding silent Large_intestine COSM4818249 CHD1 c.4192G>A p.E1398K Substitution - Missense Cervix COSM3858403 EYA4 c.484G>A p.A162T Substitution - Missense Stomach COSM4018335 KMT2A c.9205C>T p.P3069S Substitution - Missense Stomach COSM5682641 FMR1 c.1336G>T p.A446S Substitution - Missense Soft_tissue COSM3521220 BPTF c.8029C>T p.P2677S Substitution - Missense Skin COSM1018642 HDAC4 c.724A>G p.R242G Substitution - Missense Endometrium COSM1609410 CHD9 c.2363A>G p.D788G Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4469555 CBX4 c.1604C>T p.P535L Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM939501 ARID2 c.1867C>T p.R623C Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1018627 HDAC4 c.1512G>A p.M504I Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3787662 DPF1 c.395T>C p.L132P Substitution - Missense Stomach COSM1675576 TDRD1 c.2258G>A p.C753Y Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4161274 CDYL c.748G>C p.E250Q Substitution - Missense Thyroid COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM987431 AP001011.3_ENST00000320876 c.5323C>T p.P1775S Substitution - Missense Endometrium COSM249805 DNMT3A c.2677T>A p.W893R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5361536 KMT2D c.3548G>A p.C1183Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3548792 DIDO1 c.3779C>T p.S1260L Substitution - Missense Skin COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5736596 SMARCC1 c.2176C>T p.R726W Substitution - Missense Small_intestine COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM292731 CHD1 c.3960delA p.E1321fs*22 Deletion - Frameshift Large_intestine COSM282116 KDM3B c.3929A>G p.D1310G Substitution - Missense Large_intestine COSM3394972 TRRAP c.7057G>A p.V2353M Substitution - Missense Pancreas COSM33732 IDH2 c.515G>T p.R172M Substitution - Missense Central_nervous_system COSM3799549 CHD6 c.3558G>A p.G1186G Substitution - coding silent Urinary_tract COSM4600928 ERCC6 c.3482G>C p.S1161T Substitution - Missense Upper_aerodigestive_tract COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM166834 TET2 c.3921delG p.K1308fs*55 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4789608 SETD1A c.4233G>A p.P1411P Substitution - coding silent Liver COSM2965490 KDM6A c.4072T>C p.C1358R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1169691 TET2 c.? p.S1190fs*3 Frameshift Haematopoietic_and_lymphoid_tissue COSM478295 ADNP c.1404A>G p.E468E Substitution - coding silent Kidney COSM3710884 ARID2 c.2110C>T p.Q704* Substitution - Nonsense Upper_aerodigestive_tract COSM2261783 YY1 c.72C>T p.H24H Substitution - coding silent Kidney COSM1675364 KAT6B c.3400G>T p.G1134C Substitution - Missense Lung COSM914341 ASXL1 c.? p.S577* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM24595 SMARCB1 c.157C>T p.R53* Substitution - Nonsense Soft_tissue COSM3424626 HCFC1 c.2314G>A p.V772I Substitution - Missense Large_intestine COSM908683 ZMYM4 c.3864C>T p.C1288C Substitution - coding silent Endometrium COSM5095031 EPC1 c.2148T>G p.G716G Substitution - coding silent Thymus COSM1658989 TP53BP1 c.3854C>G p.T1285S Substitution - Missense Salivary_gland COSM1183544 ARID1A c.6428G>A p.R2143H Substitution - Missense Large_intestine COSM4147005 PRMT8 c.195G>T p.L65L Substitution - coding silent Thyroid COSM2741686 ZBTB4 c.94G>A p.V32I Substitution - Missense Large_intestine COSM4129611 NCOR1 c.447C>T p.F149F Substitution - coding silent Thyroid COSM3523232 CBX2 c.602C>T p.P201L Substitution - Missense Skin COSM13397 MSH6 c.4075G>T p.E1359* Substitution - Nonsense Endometrium COSM33091 EYA4 c.455T>G p.L152R Substitution - Missense Large_intestine COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM36600 WHSC1 c.2754C>T p.F918F Substitution - coding silent Skin COSM43466 TET2 c.2133_2133delG p.E711fs*40 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85911 IKZF1 c.161-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM73335 ZBTB38 c.2761A>G p.N921D Substitution - Missense Ovary COSM110754 TET2 c.4106C>G p.S1369* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM124692 NCOA6 c.4766C>T p.S1589F Substitution - Missense Upper_aerodigestive_tract COSM126659 DNMT3B c.2197C>T p.R733* Substitution - Nonsense Upper_aerodigestive_tract COSM144171 ARID1A c.4270C>T p.Q1424* Substitution - Nonsense Cervix COSM139905 MTA2 c.656A>C p.H219P Substitution - Missense Skin COSM149378 SETD2 c.1731G>A p.M577I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM196271 CBX8 c.1155delT p.F385fs*>5 Deletion - Frameshift Large_intestine COSM211684 TET2 c.1876C>T p.Q626* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM221579 DNMT3A c.920C>G p.P307R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Soft_tissue COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Prostate COSM239313 CHD7 c.5396T>A p.F1799Y Substitution - Missense Prostate COSM255187 PHF6 c.83_101>AT p.C28fs*2 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM329527 PHRF1 c.3086C>T p.S1029L Substitution - Missense Skin COSM340281 KMT2C c.980G>T p.C327F Substitution - Missense Large_intestine COSM386126 GATAD2B c.1331G>T p.C444F Substitution - Missense Lung COSM386186 TDRD5 c.1539G>C p.Q513H Substitution - Missense Lung COSM398764 ZMYM4 c.3443A>G p.D1148G Substitution - Missense Lung COSM396249 KMT2C c.5467C>T p.Q1823* Substitution - Nonsense Lung COSM52906 PBRM1 c.3033delA p.K1011fs*3 Deletion - Frameshift Kidney COSM455828 TAF1L c.2495G>A p.R832H Substitution - Missense Breast COSM464418 PRDM16 c.49G>A p.V17I Substitution - Missense Kidney COSM985516 CHD3 c.4425C>T p.A1475A Substitution - coding silent Endometrium COSM481297 GABRG1 c.764G>A p.G255E Substitution - Missense Kidney COSM485016 EZH2 c.17A>T p.K6M Substitution - Missense Kidney COSM483941 DAXX c.1353G>A p.E451E Substitution - coding silent Large_intestine COSM915020 TDRD1 c.1968C>A p.S656S Substitution - coding silent Endometrium COSM694436 BAZ2A_ENST00000379441 c.1490C>T p.P497L Substitution - Missense Lung COSM940040 KMT2D c.7000A>G p.S2334G Substitution - Missense Endometrium COSM705620 SUZ12 c.1090G>T p.E364* Substitution - Nonsense Lung COSM739790 PRDM1 c.2279A>C p.D760A Substitution - Missense Lung COSM930377 DPF2 c.55G>T p.D19Y Substitution - Missense Endometrium COSM927026 PRDM11 c.375C>A p.G125G Substitution - coding silent Endometrium COSM1041410 TBL1XR1 c.1462G>A p.E488K Substitution - Missense Breast COSM1104694 PHF19 c.625C>T p.R209W Substitution - Missense Endometrium COSM1240001 RAG2 c.1105A>G p.T369A Substitution - Missense Oesophagus COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1215194 KMT2D c.14699A>G p.Q4900R Substitution - Missense Large_intestine COSM1190868 MBD6 c.2720_2722delCAA p.P907delP Deletion - In frame Lung COSM1188967 INOC1 c.3175G>T p.A1059S Substitution - Missense Lung COSM1169487 BAP1 c.645_645delC p.L216fs*15 Deletion - Frameshift Kidney COSM1369656 BAZ1A c.1261C>T p.P421S Substitution - Missense Large_intestine COSM1419555 ZBTB38 c.2660G>A p.S887N Substitution - Missense Large_intestine COSM1407120 DNMT3A c.575C>T p.A192V Substitution - Missense Large_intestine COSM1433376 KDM3B c.2351C>A p.S784* Substitution - Nonsense Large_intestine COSM1454652 ATAD2 c.1423_1424delCT p.L475fs*8 Deletion - Frameshift Large_intestine COSM1440966 SHPRH c.2559_2560delAG p.G854fs*14 Deletion - Frameshift Large_intestine COSM1351607 KMT2A c.2311_2312insC p.S774fs*12 Insertion - Frameshift Large_intestine COSM1341430 ARID1A c.6415delC p.F2141fs*59 Deletion - Frameshift Endometrium COSM1469594 BRWD3 c.2242G>T p.E748* Substitution - Nonsense Large_intestine COSM1495258 BRD1 c.418T>C p.Y140H Substitution - Missense Kidney COSM1586697 CHD4 c.4013G>T p.R1338I Substitution - Missense Endometrium COSM1622393 TRIM24 c.329C>T p.S110L Substitution - Missense Liver COSM1628422 KDM2B c.967A>T p.M323L Substitution - Missense Liver COSM1730567 KMT2C c.5794G>C p.V1932L Substitution - Missense Liver COSM1743615 KDM3A c.3314-2A>T p.? Unknown Biliary_tract COSM1749562 SRCAP c.3851C>T p.P1284L Substitution - Missense Urinary_tract COSM1746936 KDM5A c.755C>T p.A252V Substitution - Missense Urinary_tract COSM1746936 KDM5A c.755C>T p.A252V Substitution - Missense Urinary_tract COSM1745389 CREBBP c.4300_4325del26 p.L1434fs*10 Deletion - Frameshift Urinary_tract COSM2157791 NCOA7 c.1898_1899insG p.L634fs*9 Insertion - Frameshift Central_nervous_system COSM2265127 ZMYM5 c.788C>T p.S263L Substitution - Missense Upper_aerodigestive_tract COSM2818140 BRWD1 c.4625C>T p.S1542L Substitution - Missense Large_intestine COSM2920015 CREBBP c.2640C>T p.P880P Substitution - coding silent Skin COSM2965461 KDM6A c.3687G>A p.Q1229Q Substitution - coding silent Upper_aerodigestive_tract COSM3160269 PHF3 c.2017C>T p.R673C Substitution - Missense Skin COSM3138105 PHF15 c.1177C>T p.R393C Substitution - Missense Pancreas COSM3341243 NSD1 c.6924C>T p.S2308S Substitution - coding silent Skin COSM3361368 INOC1 c.3597C>A p.N1199K Substitution - Missense Kidney COSM3479287 TDRD5 c.981T>C p.F327F Substitution - coding silent Skin COSM3488218 PRDM16 c.1472C>T p.S491F Substitution - Missense Skin COSM3494940 CHD8 c.3209C>T p.S1070F Substitution - Missense Skin COSM3626173 BRPF3 c.3594C>T p.S1198S Substitution - coding silent Skin COSM3522226 ZBTB4 c.2039G>A p.G680E Substitution - Missense Skin COSM3527174 L3MBTL4 c.418G>A p.G140R Substitution - Missense Skin COSM3528093 DNMT1 c.4150C>T p.L1384L Substitution - coding silent Skin COSM3649294 MYST3 c.4364C>T p.T1455I Substitution - Missense Skin COSM3656828 TAF1L c.5401G>A p.G1801R Substitution - Missense Skin COSM3690944 SETD1A c.3713G>A p.R1238H Substitution - Missense Large_intestine COSM3720865 ARID1A c.2133A>T p.S711S Substitution - coding silent Upper_aerodigestive_tract COSM3711584 ARID4A c.2989C>T p.P997S Substitution - Missense Upper_aerodigestive_tract COSM3738321 TRRAP c.1115+10T>G p.? Unknown Soft_tissue COSM3858218 L3MBTL3 c.1464C>T p.N488N Substitution - coding silent Stomach COSM3839030 ATAD2B_ENST00000238789 c.1369G>T p.E457* Substitution - Nonsense Breast COSM3831985 TRIM24 c.3127A>G p.I1043V Substitution - Missense Breast COSM4022813 TDRD10 c.252A>C p.T84T Substitution - coding silent Stomach COSM4022815 TDRD10 c.382G>A p.A128T Substitution - Missense Stomach COSM4054574 MGA c.6630G>A p.K2210K Substitution - coding silent Stomach COSM4111160 ATRX c.1033G>A p.A345T Substitution - Missense Pancreas COSM4060957 GLYR1 c.473C>A p.S158Y Substitution - Missense Stomach COSM4068641 SMARCD2 c.1014-1G>A p.? Unknown Stomach COSM4129609 NCOR1 c.568C>T p.R190* Substitution - Nonsense Upper_aerodigestive_tract COSM4134607 EYA2 c.1593C>T p.H531H Substitution - coding silent Thyroid COSM4129608 NCOR1 c.571G>A p.E191K Substitution - Missense Thyroid COSM4140072 INO80C c.501T>C p.F167F Substitution - coding silent Ovary COSM4170635 ARID1A c.2086_2087insC p.S698fs*119 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4385042 DNMT1 c.47C>T p.P16L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4383603 DNMT3A c.915G>A p.W305* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4395494 LMNB1 c.1539C>A p.L513L Substitution - coding silent Skin COSM4604808 KMT2C c.2318C>T p.S773L Substitution - Missense Cervix COSM4415044 RSF1 c.2679A>G p.P893P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4416808 PHF15 c.192G>A p.P64P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4588734 SMARCA2 c.1924T>C p.Y642H Substitution - Missense Bone COSM4591270 KMT2C c.2512G>A p.G838S Substitution - Missense Upper_aerodigestive_tract COSM4451862 NCOA3 c.1425A>C p.P475P Substitution - coding silent Skin COSM4771545 KMT2C c.952C>T p.Q318* Substitution - Nonsense Breast COSM4672082 CHD7 c.1012A>G p.T338A Substitution - Missense Large_intestine COSM4664617 ATRX c.6276A>C p.A2092A Substitution - coding silent Large_intestine COSM4689666 HDAC11 c.948A>G p.I316M Substitution - Missense Large_intestine COSM4646098 BRPF1 c.3651C>T p.S1217S Substitution - coding silent Large_intestine COSM4771419 PBRM1 c.996-11_996-1>AA p.? Unknown Kidney COSM4755912 BAZ2A_ENST00000379441 c.3566G>A p.R1189Q Substitution - Missense Skin COSM4749011 SETMAR c.604A>G p.N202D Substitution - Missense Stomach COSM4761338 L3MBTL3 c.229C>A p.P77T Substitution - Missense Stomach COSM4881556 ZMYM3 c.3750C>A p.T1250T Substitution - coding silent Upper_aerodigestive_tract COSM4845630 CHD4 c.5025G>A p.Q1675Q Substitution - coding silent Cervix COSM4855846 KDM4C c.3093G>A p.K1031K Substitution - coding silent Cervix COSM4810369 KIAA2026_ENST00000399933 c.2591G>A p.G864E Substitution - Missense Breast COSM4953991 EYA1 c.1371T>A p.G457G Substitution - coding silent Liver COSM4954296 SETD5_ENST00000402198 c.1117A>G p.I373V Substitution - Missense Liver COSM4945224 TDRD5 c.1005A>C p.K335N Substitution - Missense Testis COSM4990893 CREBBP c.598C>T p.Q200* Substitution - Nonsense Skin COSM4971049 NCOA2 c.3670G>A p.V1224I Substitution - Missense Central_nervous_system COSM5025218 ARID1A c.6562C>T p.Q2188* Substitution - Nonsense Breast COSM5347923 SMARCA1 c.1986delA p.E663fs*6 Deletion - Frameshift Liver COSM5412375 RBBP7 c.637G>A p.G213S Substitution - Missense Skin COSM5410984 TAF1L c.1882C>T p.P628S Substitution - Missense Skin COSM5413492 TRRAP c.4603C>T p.P1535S Substitution - Missense Skin COSM5419315 ZMYM3 c.3631A>G p.T1211A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5515285 SMARCA2 c.3173T>G p.I1058S Substitution - Missense Biliary_tract COSM5439310 AP001011.3_ENST00000320876 c.2995C>G p.Q999E Substitution - Missense Oesophagus COSM5628717 MYST3 c.3257G>T p.R1086L Substitution - Missense Oesophagus COSM5611568 KDM5C c.1920C>T p.C640C Substitution - coding silent Adrenal_gland COSM5754019 PHC1 c.1221delC p.Q408fs*95 Deletion - Frameshift Large_intestine COSM5717170 WHSC1 c.3039C>T p.I1013I Substitution - coding silent Skin COSM5723305 KDM5C c.2341C>T p.L781L Substitution - coding silent Skin COSM5748960 ZMYM3 c.2206C>T p.R736C Substitution - Missense Pancreas COSM5716641 L3MBTL3 c.499C>T p.P167S Substitution - Missense Skin COSM5578797 KDM2B c.2850T>A p.C950* Substitution - Nonsense Skin COSM5682127 PRDM13 c.2030G>C p.G677A Substitution - Missense Soft_tissue COSM5670348 GTF3C1 c.1768A>C p.K590Q Substitution - Missense Soft_tissue COSM5708969 TET2 c.4043A>C p.Q1348P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5569528 SMARCB1 c.695C>G p.T232R Substitution - Missense Prostate COSM5816882 MGA c.3298C>T p.Q1100* Substitution - Nonsense Liver COSM5808761 ASXL1 c.3108T>C p.N1036N Substitution - coding silent Liver COSM5896768 NSD1 c.2213T>C p.L738P Substitution - Missense Skin COSM5895413 PBRM1 c.2775_2776delAA p.E927fs*2 Deletion - Frameshift Skin COSM5938000 HAT1 c.189-8C>T p.? Unknown Skin COSM5908364 ZBTB38 c.584C>T p.S195F Substitution - Missense Skin COSM5891995 TRRAP c.3176-7C>T p.? Unknown Skin COSM5967295 KDM6A c.2938+2T>A p.? Unknown Salivary_gland COSM6007281 EYA4 c.328G>A p.A110T Substitution - Missense Prostate COSM5994673 MBD4 c.1411+5G>T p.? Unknown Prostate COSM914353 ASXL1 c.? p.Q733* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM42025 TET2 c.? p.R1465* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4169420 SMARCA4 c.? p.A317V Substitution - Missense Skin COSM5347227 ARID1A c.?_?ins? p.G1449fs*? Insertion - Frameshift Endometrium COSM1716582 BAP1 c.38-?_1983+?del p.? Unknown Pleura COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Bone COSM52784 PBRM1 c.1818+1G>A p.? Unknown Kidney COSM2894231 ATF2 c.489T>C p.I163I Substitution - coding silent Upper_aerodigestive_tract COSM5708156 DNMT3A c.2478G>T p.K826N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1699042 ACTL6B c.893G>A p.R298Q Substitution - Missense Skin COSM4188956 RAG2 c.1433G>T p.C478F Substitution - Missense Kidney COSM1047216 SFMBT1 c.1827C>T p.C609C Substitution - coding silent Endometrium COSM5021163 KMT2C c.5952A>C p.L1984L Substitution - coding silent Soft_tissue COSM1108 SMARCB1 c.? p.? Unknown Central_nervous_system COSM140928 RAD54L c.20C>T p.P7L Substitution - Missense Upper_aerodigestive_tract COSM4791276 TDRD6 c.5876T>C p.L1959P Substitution - Missense Liver COSM3894916 MBD5 c.1093C>T p.P365S Substitution - Missense Skin COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM5433071 CREBBP c.5029G>A p.E1677K Substitution - Missense Oesophagus COSM4388453 PCGF2 c.718A>G p.T240A Substitution - Missense Pancreas COSM5359332 SMARCA2 c.350G>A p.S117N Substitution - Missense Large_intestine COSM4766171 TET2 c.5687G>C p.R1896T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM126825 NCOR1 c.2125C>T p.Q709* Substitution - Nonsense Upper_aerodigestive_tract COSM397516 SETD1A c.4218A>C p.P1406P Substitution - coding silent Lung COSM381371 EP400 c.3274G>T p.A1092S Substitution - Missense Lung COSM1253000 GABRG1 c.236T>G p.L79R Substitution - Missense Large_intestine COSM5055879 BAHCC1 c.5458C>T p.R1820W Substitution - Missense Stomach COSM378774 ACTL6A c.931C>T p.P311S Substitution - Missense Lung COSM4040281 EP400 c.6546G>A p.A2182A Substitution - coding silent Stomach COSM20436 TAF1L c.1994delA p.K665fs*4 Deletion - Frameshift Large_intestine COSM5964668 BAZ2A_ENST00000379441 c.3262C>T p.R1088C Substitution - Missense Breast COSM468654 SMARCC2 c.3225T>G p.G1075G Substitution - coding silent Kidney COSM1606198 KMT2D c.15046G>A p.E5016K Substitution - Missense Liver COSM282216 KIAA2026_ENST00000399933 c.4208C>A p.S1403Y Substitution - Missense Large_intestine COSM2141006 CHD2 c.4980C>T p.D1660D Substitution - coding silent Large_intestine COSM5615594 NCOA7 c.2311G>T p.E771* Substitution - Nonsense Lung COSM1600279 BAG6 c.103G>A p.A35T Substitution - Missense Stomach COSM1717434 BAP1 c.68-2A>G p.? Unknown Biliary_tract COSM473893 MBD1 c.173A>G p.D58G Substitution - Missense Kidney COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM221136 KMT2D c.3600-1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM483943 DAXX c.199T>A p.F67I Substitution - Missense Kidney COSM1458063 NCOA2 c.4381C>T p.R1461W Substitution - Missense Pancreas COSM5984051 HDAC1 c.1186G>A p.E396K Substitution - Missense Upper_aerodigestive_tract COSM5982221 KDM6A c.2232C>T p.V744V Substitution - coding silent Upper_aerodigestive_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM1332871 TRIM33 c.2981A>G p.Y994C Substitution - Missense Large_intestine COSM4113322 MBD4 c.967T>G p.F323V Substitution - Missense Stomach COSM4953289 DOT1L c.2345G>T p.R782M Substitution - Missense Liver COSM164495 SMYD4 c.577C>T p.R193C Substitution - Missense Breast COSM1225342 SETD1A c.2665C>T p.R889W Substitution - Missense Large_intestine COSM3433017 EHMT1 c.3484G>T p.G1162W Substitution - Missense Large_intestine COSM23020 MEN1 c.1324C>T p.Q442* Substitution - Nonsense Pancreas COSM4798149 ASH1L c.4969G>A p.V1657I Substitution - Missense Liver COSM1468253 HDAC6 c.1374C>T p.S458S Substitution - coding silent Large_intestine COSM216176 ZBTB33 c.168C>A p.Y56* Substitution - Nonsense Central_nervous_system COSM3781733 PRDM5 c.650+4C>T p.? Unknown Pancreas COSM4771415 PBRM1 c.2587_2597del11 p.E863fs*8 Deletion - Frameshift Kidney COSM1066257 NSD1 c.4467T>C p.D1489D Substitution - coding silent Endometrium COSM913224 BRDT c.213A>C p.K71N Substitution - Missense Endometrium COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5006575 BAP1 c.? p.R699Q Substitution - Missense Kidney COSM110768 TET2 c.2596C>T p.Q866* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4039467 KDM2B c.2526A>G p.P842P Substitution - coding silent Stomach COSM74871 HCFC2 c.1373C>T p.T458M Substitution - Missense Ovary COSM4824355 NSD1 c.6897C>T p.L2299L Substitution - coding silent Cervix COSM4954512 SETD2 c.5524G>A p.V1842M Substitution - Missense Liver COSM1602137 ARID1A c.997G>A p.A333T Substitution - Missense Liver COSM5883782 TBL1XR1 c.268G>T p.D90Y Substitution - Missense Breast COSM41292 IDH1 c.? p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3398703 KDM5A c.3666G>A p.R1222R Substitution - coding silent Central_nervous_system COSM972481 CTCF c.940_941insAC p.G318fs*16 Insertion - Frameshift Endometrium COSM753628 TAF1L c.572C>G p.A191G Substitution - Missense Lung COSM3440614 KAT6B c.4416G>A p.E1472E Substitution - coding silent Skin COSM5955492 PHF13 c.459G>A p.T153T Substitution - coding silent Upper_aerodigestive_tract COSM3368819 ARID2 c.3091C>T p.Q1031* Substitution - Nonsense Thyroid COSM1080947 PHF3 c.888A>C p.Q296H Substitution - Missense Endometrium COSM3712214 SMYD4 c.981G>T p.W327C Substitution - Missense Upper_aerodigestive_tract COSM3190584 HDAC5 c.3310G>A p.A1104T Substitution - Missense Lung COSM1239175 JARID2 c.1266delG p.R425fs*36 Deletion - Frameshift Oesophagus COSM1630066 NCOR1 c.515C>T p.S172L Substitution - Missense Upper_aerodigestive_tract COSM5660677 BRD3 c.964A>T p.M322L Substitution - Missense Soft_tissue COSM5433462 TDRD10 c.998A>G p.K333R Substitution - Missense Oesophagus COSM1560994 RNF134 c.83_84insGCCTCC p.P28_V29insPP Insertion - In frame Large_intestine COSM4746406 TDG c.1091T>97 p.L363_I364ins32 Insertion - In frame Central_nervous_system COSM290539 SRCAP c.7138C>T p.R2380W Substitution - Missense Large_intestine COSM5814332 TRIM28 c.174G>A p.A58A Substitution - coding silent Liver COSM966698 CHD2 c.1039G>A p.E347K Substitution - Missense Endometrium COSM267649 TRRAP c.10703A>G p.Y3568C Substitution - Missense Large_intestine COSM1123032 SMC1A c.1990C>T p.R664W Substitution - Missense Biliary_tract COSM3358949 KAT6B c.4176A>G p.E1392E Substitution - coding silent Kidney COSM3358422 KDM5C c.1410_1413delTACC p.T471fs*5 Deletion - Frameshift Kidney COSM3307087 HDAC9 c.932G>A p.R311H Substitution - Missense Large_intestine COSM5020164 KDM5A c.3197C>G p.S1066C Substitution - Missense Soft_tissue COSM164536 SP140 c.208C>T p.R70C Substitution - Missense Skin COSM4432356 IDH1 c.928G>A p.G310R Substitution - Missense Oesophagus COSM5357428 JARID2 c.465A>C p.E155D Substitution - Missense Large_intestine COSM4518331 ASXL1 c.604_605CC>TT p.P202L Substitution - Missense Skin COSM223111 PHIP c.3560C>T p.P1187L Substitution - Missense Skin COSM3550713 BRWD1 c.3106G>A p.D1036N Substitution - Missense Skin COSM4390133 ING2 c.475G>A p.E159K Substitution - Missense Urinary_tract COSM4597864 PRDM9 c.2272C>A p.R758S Substitution - Missense Oesophagus COSM4930792 PHC2 c.495T>A p.A165A Substitution - coding silent Liver COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3633845 TRIM24 c.436A>C p.K146Q Substitution - Missense Skin COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM6016370 SMYD4 c.1213G>T p.V405F Substitution - Missense Skin COSM221048 KMT2D c.5710C>T p.Q1904* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1099893 MYST3 c.5530A>C p.R1844R Substitution - coding silent Endometrium COSM4776605 KDM5A c.3362G>C p.R1121T Substitution - Missense Breast COSM3523237 CBX8 c.625G>A p.D209N Substitution - Missense Skin COSM1457722 CHD7 c.4540T>G p.F1514V Substitution - Missense Large_intestine COSM1449816 HDAC9 c.1041G>A p.S347S Substitution - coding silent Large_intestine COSM255054 EP300 c.644_654del11 p.G216fs*2 Deletion - Frameshift Urinary_tract COSM1626234 ATRX c.3052_3053insGAAA p.K1018fs*5 Insertion - Frameshift Central_nervous_system COSM6017248 SMARCA4 c.4693G>A p.E1565K Substitution - Missense Skin COSM3379408 TCF20 c.2962A>G p.M988V Substitution - Missense Pancreas COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1124894 TAF1 c.2620G>T p.E874* Substitution - Nonsense Endometrium COSM4728271 SMARCA2 c.708A>G p.Q236Q Substitution - coding silent Soft_tissue COSM1753242 SMARCC1 c.3003G>C p.L1001L Substitution - coding silent Urinary_tract COSM5721303 TAF1L c.3585G>C p.G1195G Substitution - coding silent Skin COSM4001621 DNMT3A c.1266G>A p.L422L Substitution - coding silent Thyroid COSM4671970 CHD2 c.2733T>C p.N911N Substitution - coding silent Large_intestine COSM5978348 MSH6 c.3151G>A p.V1051I Substitution - Missense Upper_aerodigestive_tract COSM3879561 KMT2C c.7529T>C p.V2510A Substitution - Missense Stomach COSM999445 KDM4B c.93C>T p.Y31Y Substitution - coding silent Endometrium COSM1101410 NCOA2 c.3539G>A p.G1180D Substitution - Missense Endometrium COSM419720 MECOM c.69C>A p.C23* Substitution - Nonsense Urinary_tract COSM3358508 PBRM1 c.2977_2980delTTGT p.L993fs*20 Deletion - Frameshift Kidney COSM4119062 BAP1 c.734T>C p.L245P Substitution - Missense Stomach COSM3867352 ERCC6 c.2968C>T p.P990S Substitution - Missense Skin COSM348018 ATAD2B_ENST00000238789 c.1883G>T p.R628L Substitution - Missense Lung COSM3831520 MLL5 c.128A>C p.H43P Substitution - Missense Breast COSM1444898 TDRD6 c.2744delA p.N917fs*2 Deletion - Frameshift Large_intestine COSM1071558 CHD1 c.3G>T p.M1I Substitution - Missense Endometrium COSM1483543 DNMT3B c.343G>A p.E115K Substitution - Missense Breast COSM144561 DNMT3A c.1852_1852delG p.D618fs*33 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4979982 NCOA6 c.4660G>A p.E1554K Substitution - Missense Oesophagus COSM1067059 PRDM9 c.249C>T p.L83L Substitution - coding silent Endometrium COSM30423 KMT2D c.15355C>T p.R5119W Substitution - Missense Pancreas COSM944334 PHC1 c.357T>C p.S119S Substitution - coding silent Endometrium COSM5557979 ZMYM3 c.1038G>C p.K346N Substitution - Missense Prostate COSM5964208 KMT2C c.13259T>G p.L4420R Substitution - Missense Breast COSM5927215 ATAD2B_ENST00000238789 c.1189-5C>T p.? Unknown Skin COSM1473922 ZMYM4 c.1570-1G>A p.? Unknown Breast COSM923581 KMT2A c.4432C>T p.R1478C Substitution - Missense Endometrium COSM255100 MEN1 c.89_91delAGG p.E31del Deletion - In frame Parathyroid COSM3358500 PBRM1 c.3480delT p.G1161fs*57 Deletion - Frameshift Kidney COSM4060191 SRCAP c.2729G>A p.R910Q Substitution - Missense Stomach COSM1128983 SRCAP c.2952A>C p.P984P Substitution - coding silent Urinary_tract COSM4401666 CHD1 c.3710A>G p.Q1237R Substitution - Missense Skin COSM912516 RERE c.2445T>A p.H815Q Substitution - Missense Endometrium COSM3600408 SETD7 c.566C>T p.S189L Substitution - Missense Skin COSM5949788 ARID1A c.751C>T p.P251S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4953478 KDM3B c.5163G>T p.R1721S Substitution - Missense Liver COSM133578 ASXL1 c.1937_1937delG p.G646fs*57 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4558735 MEN1 c.763G>A p.E255K Substitution - Missense Skin COSM5399744 BAP1 c.334C>T p.L112L Substitution - coding silent Skin COSM1681998 PRDM15 c.2449C>T p.H817Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM961416 RTF1 c.1041C>A p.I347I Substitution - coding silent Endometrium COSM4666073 BRD1 c.2779C>G p.L927V Substitution - Missense Large_intestine COSM291198 FTO c.796G>A p.D266N Substitution - Missense Large_intestine COSM3581800 CAMKMT c.903G>A p.K301K Substitution - coding silent Skin COSM6002547 KAT2A c.1451C>T p.A484V Substitution - Missense Prostate COSM138059 INOC1 c.3461C>T p.S1154L Substitution - Missense Skin COSM421118 PRDM1 c.1003C>A p.R335R Substitution - coding silent Urinary_tract COSM5046934 KMT2C c.13652G>C p.G4551A Substitution - Missense Oesophagus COSM349028 INOC1 c.3601A>T p.T1201S Substitution - Missense Lung COSM913242 BRDT c.1774G>T p.E592* Substitution - Nonsense Endometrium COSM3785673 CBX6 c.543C>T p.I181I Substitution - coding silent Pancreas COSM1001481 SUV420H2 c.30A>G p.E10E Substitution - coding silent Endometrium COSM5730831 SETD2 c.3173G>T p.G1058V Substitution - Missense Breast COSM42016 TET2 c.4393C>T p.R1465* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM221576 DNMT3A c.859_859delG p.G287fs*29 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3151621 CBX6 c.1113C>T p.T371T Substitution - coding silent Large_intestine COSM1583065 DNMT3A c.1526_1535del10 p.F509fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM954453 CHD8 c.1505G>A p.R502H Substitution - Missense Prostate COSM5370102 TDRD1 c.433T>C p.L145L Substitution - coding silent Skin COSM3458262 EP400 c.7221C>T p.L2407L Substitution - coding silent Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5663829 CHD1 c.1992-1G>T p.? Unknown Soft_tissue COSM5912638 KMT2C c.10367C>T p.S3456F Substitution - Missense Skin COSM485095 KMT2C c.3309T>A p.C1103* Substitution - Nonsense Soft_tissue COSM3467869 RNF17 c.543G>A p.E181E Substitution - coding silent Skin COSM4849467 CHD2 c.2376G>A p.K792K Substitution - coding silent Cervix COSM3820842 KDM6B c.3309G>A p.L1103L Substitution - coding silent Breast COSM1600854 GATAD2B c.639T>C p.S213S Substitution - coding silent Liver COSM2158479 JMJD1C c.3114A>C p.P1038P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1169223 DNMT3A c.? p.R326H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4383910 TET2 c.3629_3630delTG p.C1211fs*11 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4119252 SFMBT1 c.1645G>A p.A549T Substitution - Missense Stomach COSM5948350 KDM6A c.232_236delCGCTG p.R78fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1725796 ARID1A c.4807A>T p.K1603* Substitution - Nonsense Liver COSM907716 ARID1A c.3862G>A p.V1288M Substitution - Missense Endometrium COSM1044878 SETMAR c.1516C>T p.R506* Substitution - Nonsense Endometrium COSM221154 KMT2D c.15224_15225insG p.I5075fs*18 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3989423 BAHCC1 c.2547C>T p.P849P Substitution - coding silent Kidney COSM4620298 ASH1L c.2963A>G p.K988R Substitution - Missense Large_intestine COSM1125401 ATRX c.6359G>A p.G2120E Substitution - Missense Endometrium COSM1427323 SMARCA5 c.2858G>A p.R953H Substitution - Missense Large_intestine COSM970548 CREBBP c.6281C>T p.P2094L Substitution - Missense Endometrium COSM205720 SHPRH c.3334C>T p.R1112* Substitution - Nonsense Oesophagus COSM894493 TTF2 c.2334G>A p.S778S Substitution - coding silent Endometrium COSM3689993 MTA1 c.232G>A p.G78S Substitution - Missense Large_intestine COSM1169688 TET2 c.? p.E852* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1108217 TAF1L c.4494A>C p.E1498D Substitution - Missense Endometrium COSM4170169 TET2 c.5018_5019delCA p.P1674fs*12 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4792484 TTF2 c.2148C>T p.N716N Substitution - coding silent Liver COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1752067 BAZ2B c.45T>G p.T15T Substitution - coding silent Urinary_tract COSM3848661 KDM4C c.1352C>T p.S451L Substitution - Missense Breast COSM5364568 AP001011.3_ENST00000320876 c.2150C>T p.A717V Substitution - Missense Large_intestine COSM4505054 HDAC4 c.682C>T p.P228S Substitution - Missense Skin COSM3698630 TRRAP c.8797G>A p.A2933T Substitution - Missense Large_intestine COSM3879594 KMT2C c.2760A>G p.V920V Substitution - coding silent Stomach COSM480303 PBRM1 c.4688G>C p.R1563P Substitution - Missense Kidney COSM1414222 PRDM15 c.2272C>T p.R758C Substitution - Missense Large_intestine COSM387410 WHSC1 c.3148G>A p.E1050K Substitution - Missense Lung COSM3900856 CHD7 c.1075C>G p.Q359E Substitution - Missense Stomach COSM5558575 HDAC2 c.419T>C p.L140S Substitution - Missense Prostate COSM28786 KDM6A c.997C>T p.Q333* Substitution - Nonsense Oesophagus COSM4015480 SFMBT2 c.2528A>C p.K843T Substitution - Missense Large_intestine COSM1190306 DIDO1 c.5548G>T p.G1850W Substitution - Missense Lung COSM423056 PBRM1 c.682delA p.I228fs*1 Deletion - Frameshift Kidney COSM5674055 KDM2A c.59G>T p.R20L Substitution - Missense Soft_tissue COSM52964 DNMT3A c.? p.Q615* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3973701 HDAC6 c.3424A>G p.N1142D Substitution - Missense Central_nervous_system COSM4166526 TET2 c.? p.Q361* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4694928 KDM3A c.1257T>C p.P419P Substitution - coding silent Large_intestine COSM88741 CREBBP c.4444T>C p.Y1482H Substitution - Missense Skin COSM1602161 ARID1A c.6765A>C p.E2255D Substitution - Missense Liver COSM4983465 BAZ2B c.1426G>C p.E476Q Substitution - Missense Oesophagus COSM3490032 KDM4A c.551C>T p.S184F Substitution - Missense Skin COSM5347080 ARID1A c.2615T>C p.M872T Substitution - Missense Endometrium COSM1018615 HDAC4 c.2652C>T p.P884P Substitution - coding silent Endometrium COSM199146 TRRAP c.4572G>A p.T1524T Substitution - coding silent Large_intestine COSM1442448 HDGFL1 c.78G>A p.P26P Substitution - coding silent Large_intestine COSM5805641 PRDM16 c.2029C>A p.P677T Substitution - Missense Liver COSM1426601 PRDM5 c.1525C>T p.R509W Substitution - Missense Large_intestine COSM4678884 DNMT1 c.2015A>G p.D672G Substitution - Missense Large_intestine COSM433833 MGA c.4621C>T p.R1541C Substitution - Missense Breast COSM249288 KMT2D c.15082G>T p.V5028L Substitution - Missense Kidney COSM257219 KIAA1045 c.2T>A p.M1K Substitution - Missense Large_intestine COSM3900875 CHD7 c.6108G>A p.P2036P Substitution - coding silent Stomach COSM5620347 BAZ2B c.1606A>G p.N536D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1757286 TAF1 c.3152C>T p.S1051L Substitution - Missense Urinary_tract COSM4478311 PRDM4 c.2229C>T p.Y743Y Substitution - coding silent Skin COSM2177191 TRIM33 c.2414G>A p.C805Y Substitution - Missense Upper_aerodigestive_tract COSM5748168 CHD6 c.95A>G p.Y32C Substitution - Missense Pancreas COSM283881 PCNA c.256G>T p.D86Y Substitution - Missense Large_intestine COSM1341906 PHC2 c.1966C>T p.R656C Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM987422 AP001011.3_ENST00000320876 c.4647T>C p.T1549T Substitution - coding silent Endometrium COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4159761 NSD1 c.6903G>C p.G2301G Substitution - coding silent Soft_tissue COSM88748 CREBBP c.4337G>A p.R1446H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4689672 HDAC2 c.141C>T p.G47G Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1711831 SMARCA4 c.4030C>T p.P1344S Substitution - Missense Skin COSM466566 PRDM10 c.465G>A p.T155T Substitution - coding silent Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4495404 INOC1 c.4532C>T p.S1511F Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1109476 KIAA2026_ENST00000399933 c.1720C>T p.R574C Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3879537 KMT2C c.10138C>T p.P3380S Substitution - Missense Stomach COSM1667289 ARID1A c.4367C>T p.P1456L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1695008 PHF17 c.1570G>A p.E524K Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4808274 SETD1B c.1377C>T p.G459G Substitution - coding silent Pancreas COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1474645 ERCC6 c.2144_2145insG p.Y716fs*44 Insertion - Frameshift Breast COSM3362395 KDM6B c.3542T>C p.L1181P Substitution - Missense Kidney COSM4679233 DPF1 c.635G>T p.R212M Substitution - Missense Large_intestine COSM397559 MUM1 c.569C>T p.P190L Substitution - Missense Lung COSM2149757 EYA2 c.1458G>C p.R486S Substitution - Missense Central_nervous_system COSM3431051 MLL5 c.1304G>T p.S435I Substitution - Missense Large_intestine COSM3793533 MTA1 c.874G>C p.E292Q Substitution - Missense Urinary_tract COSM4997929 KDM4C c.3115G>A p.V1039I Substitution - Missense Pancreas COSM5557571 KDM2B c.2046C>T p.I682I Substitution - coding silent Prostate COSM4491291 PRDM15 c.3786C>T p.L1262L Substitution - coding silent Skin COSM4170154 TET2 c.4994delA p.D1665fs*30 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM1479297 SMYD4 c.359G>A p.G120D Substitution - Missense Breast COSM4061203 CHD9 c.7925C>T p.A2642V Substitution - Missense Stomach COSM5663579 PRDM16 c.388-3C>T p.? Unknown Soft_tissue COSM1193660 SMARCD3 c.730G>A p.D244N Substitution - Missense Lung COSM1625901 KDM6A c.339A>G p.L113L Substitution - coding silent Liver COSM4070658 BAHCC1 c.7385G>A p.R2462Q Substitution - Missense Stomach COSM1081844 PHIP c.4790C>T p.A1597V Substitution - Missense Endometrium COSM3845398 ATRX c.4564G>T p.E1522* Substitution - Nonsense Breast COSM488459 KDM5C c.2198A>C p.H733P Substitution - Missense Kidney COSM5387108 BPTF c.7906G>A p.D2636N Substitution - Missense Skin COSM4713969 PHF2 c.738C>T p.T246T Substitution - coding silent Large_intestine COSM5025081 KMT2D c.15711+7G>T p.? Unknown Breast COSM21485 HNF1A c.749A>C p.Q250P Substitution - Missense Liver COSM3620784 EYA4 c.100G>A p.D34N Substitution - Missense Skin COSM13922 SMARCA5 c.457G>A p.E153K Substitution - Missense Skin COSM5083735 ATRX c.4152_4153insT p.Q1385fs*6 Insertion - Frameshift Large_intestine COSM88500 AICDA c.532C>T p.R178C Substitution - Missense Large_intestine COSM5715603 BRPF3 c.2489C>T p.S830F Substitution - Missense Skin COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52980 EZH2 c.2069G>A p.R690H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM50264 CHD9 c.2533T>C p.W845R Substitution - Missense Breast COSM107362 SMARCB1 c.562C>T p.P188S Substitution - Missense Skin COSM100078 TET2 c.2282_2282delC p.P761fs*52 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM87124 TET2 c.3632G>A p.C1211Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144541 TET2 c.2024C>A p.S675* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM144513 TET2 c.1887_1887delC p.H629fs*10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM149376 SETD2 c.4376C>T p.P1459L Substitution - Missense Soft_tissue COSM172621 ASH1L c.6436C>T p.R2146* Substitution - Nonsense Skin COSM188275 MYST3 c.3201C>T p.I1067I Substitution - coding silent Stomach COSM41850 TET2 c.1630C>T p.R544* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM285624 TCF20 c.103G>A p.A35T Substitution - Missense Large_intestine COSM275434 HDAC9 c.1988G>A p.R663Q Substitution - Missense Skin COSM297923 ZMYM6 c.1100C>T p.A367V Substitution - Missense Large_intestine COSM313089 KAT6B c.5471C>G p.T1824S Substitution - Missense Soft_tissue COSM322800 PRDM15 c.3209A>G p.N1070S Substitution - Missense Lung COSM330655 MSH6 c.3254delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM341815 ASH1L c.1864A>G p.I622V Substitution - Missense Lung COSM381706 KDM1A c.1981G>A p.V661I Substitution - Missense Large_intestine COSM435124 SRCAP c.3517C>T p.P1173S Substitution - Missense Breast COSM457978 ZMYM3 c.3121C>T p.R1041W Substitution - Missense Breast COSM466406 KMT2A c.11261A>G p.N3754S Substitution - Missense Central_nervous_system COSM467141 MTA2 c.1298G>A p.S433N Substitution - Missense Kidney COSM981686 AKAP1 c.1773G>A p.E591E Substitution - coding silent Endometrium COSM983293 BPTF c.2014G>A p.A672T Substitution - Missense Endometrium COSM480170 SETD2 c.2593C>T p.Q865* Substitution - Nonsense Kidney COSM480335 PBRM1 c.3046G>T p.E1016* Substitution - Nonsense Kidney COSM693708 KMT2D c.12834C>T p.S4278S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM680175 ARID1A c.2879G>T p.G960V Substitution - Missense Lung COSM1030468 SETD4 c.763G>A p.E255K Substitution - Missense Endometrium COSM937498 ATF7IP c.1543G>T p.E515* Substitution - Nonsense Endometrium COSM757515 ATRX c.7464A>T p.Q2488H Substitution - Missense Lung COSM972473 CTCF c.556C>T p.Q186* Substitution - Nonsense Endometrium COSM1651167 SETDB1 c.3138C>T p.D1046D Substitution - coding silent Oesophagus COSM703190 MYST1 c.1321G>C p.V441L Substitution - Missense Lung COSM721876 SMYD5 c.841G>T p.E281* Substitution - Nonsense Lung COSM907713 ARID1A c.3562C>T p.Q1188* Substitution - Nonsense Endometrium COSM908621 ZMYM6 c.1171G>C p.G391R Substitution - Missense Endometrium COSM958757 SMEK1 c.621T>G p.L207L Substitution - coding silent Endometrium COSM994276 LMNB2 c.275G>A p.R92Q Substitution - Missense Endometrium COSM961367 INOC1 c.1320G>T p.E440D Substitution - Missense Endometrium COSM971990 SETD6 c.491A>G p.Y164C Substitution - Missense Endometrium COSM1075342 ARID1B c.75_76insCAC p.H31_A32insH Insertion - In frame Endometrium COSM1122181 HDAC6 c.853C>A p.P285T Substitution - Missense Endometrium COSM1109443 KIAA2026_ENST00000399933 c.4274T>C p.F1425S Substitution - Missense Endometrium COSM1117751 HCFC1 c.2353A>G p.T785A Substitution - Missense Endometrium COSM1132023 SHPRH c.4088C>A p.T1363K Substitution - Missense Prostate COSM1087033 EZH2 c.2233G>A p.E745K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1245994 BAZ2A c.4340C>G p.P1447R Substitution - Missense Oesophagus COSM1195185 EZH2 c.1610G>A p.S537N Substitution - Missense Lung COSM1211800 KDM6B c.1756C>T p.R586W Substitution - Missense Large_intestine COSM1220336 PHF12 c.920C>A p.A307D Substitution - Missense Large_intestine COSM1319994 TDRKH c.114G>A p.R38R Substitution - coding silent Ovary COSM1390256 SMARCA4 c.1674C>T p.D558D Substitution - coding silent Large_intestine COSM1342113 ZMYM1 c.1638G>C p.Q546H Substitution - Missense Large_intestine COSM1351634 KMT2A c.5291G>A p.R1764H Substitution - Missense Large_intestine COSM1355794 MEN1 c.1546delC p.R516fs*43 Deletion - Frameshift Large_intestine COSM1495935 LMNB1 c.1112A>G p.D371G Substitution - Missense Kidney COSM1488415 KMT2C c.325C>T p.Q109* Substitution - Nonsense Breast COSM1483967 PRDM15 c.969C>T p.S323S Substitution - coding silent Breast COSM1615188 KDM3A c.3203A>C p.N1068T Substitution - Missense Liver COSM1617695 SMARCC1 c.1687C>T p.P563S Substitution - Missense Liver COSM1617181 MECOM c.1817delA p.N606fs*38 Deletion - Frameshift Liver COSM1627247 BRDT c.1717G>T p.A573S Substitution - Missense Liver COSM1583059 DNMT3A c.1341_1342insC p.Y448fs*25 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1641332 PHF20 c.1061C>A p.P354H Substitution - Missense Stomach COSM1716698 ATRX c.4307delG p.S1436fs*54 Deletion - Frameshift Central_nervous_system COSM1716733 ATRX c.6812_6815delGAAA p.R2271fs*14 Deletion - Frameshift Central_nervous_system COSM1719201 KAT2B c.1915G>A p.D639N Substitution - Missense Skin COSM1665655 PBRM1 c.4430delC p.P1477fs*12 Deletion - Frameshift Kidney COSM1659718 PHRF1 c.1357C>T p.L453F Substitution - Missense Kidney COSM1751890 L3MBTL2 c.1056C>A p.R352R Substitution - coding silent Urinary_tract COSM1750252 BPTF c.8674G>C p.E2892Q Substitution - Missense Urinary_tract COSM1970710 HELLS c.180G>A p.S60S Substitution - coding silent Large_intestine COSM2030001 CHD8 c.5346A>G p.A1782A Substitution - coding silent Large_intestine COSM2740256 RAI1 c.4874G>A p.R1625K Substitution - Missense Large_intestine COSM2828730 SETD5_ENST00000402198 c.261A>G p.E87E Substitution - coding silent Upper_aerodigestive_tract COSM2856263 KDM1B c.892G>A p.V298I Substitution - Missense Stomach COSM3188392 KAT2A c.1084A>G p.M362V Substitution - Missense Large_intestine COSM3205534 TBL1XR1 c.971_973delCTT p.S324delS Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM3307095 HDAC9 c.963G>A p.L321L Substitution - coding silent Large_intestine COSM3388266 CBX2 c.1569C>T p.S523S Substitution - coding silent Breast COSM3384655 AICDA c.285C>T p.A95A Substitution - coding silent Pancreas COSM3398542 EP400 c.5364G>A p.L1788L Substitution - coding silent Central_nervous_system COSM3436547 BMI1 c.133C>T p.R45C Substitution - Missense Breast COSM3441888 HELLS c.1702C>T p.R568C Substitution - Missense Skin COSM3578891 SP140_ENST00000392045 c.733G>A p.D245N Substitution - Missense Skin COSM3545287 DNMT3B c.63C>T p.I21I Substitution - coding silent Skin COSM3562459 PHF8 c.289G>T p.D97Y Substitution - Missense Skin COSM3555542 BRD1 c.1651G>A p.E551K Substitution - Missense Skin COSM3510235 CHD9 c.6062T>C p.V2021A Substitution - Missense Skin COSM3665842 SFMBT2 c.2215G>A p.E739K Substitution - Missense Liver COSM3794136 INOC1 c.2147A>T p.D716V Substitution - Missense Urinary_tract COSM3858418 EYA4 c.1834A>G p.K612E Substitution - Missense Stomach COSM3907570 KIAA2026_ENST00000399933 c.5379T>G p.I1793M Substitution - Missense Stomach COSM3899935 ASH2L c.837T>C p.T279T Substitution - coding silent Stomach COSM3900251 MYST3 c.1131A>G p.S377S Substitution - coding silent Stomach COSM3879543 KMT2C c.9517+2T>C p.? Unknown Stomach COSM3888428 MYST1 c.901T>C p.Y301H Substitution - Missense Skin COSM3951827 PRDM14 c.928C>G p.H310D Substitution - Missense Lung COSM3956104 ARID4A c.1369A>T p.S457C Substitution - Missense Lung COSM4039482 KDM2B c.765C>T p.C255C Substitution - coding silent Stomach COSM3997841 MGMT c.250C>A p.L84I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4122628 PRMT10 c.1606G>T p.G536C Substitution - Missense Stomach COSM4152570 TAF1 c.4943A>C p.D1648A Substitution - Missense Kidney COSM4387473 EP300 c.4505C>T p.P1502L Substitution - Missense Skin COSM4401935 KDM5D c.4067C>T p.S1356F Substitution - Missense Skin COSM4575584 SMARCC2 c.457C>T p.L153L Substitution - coding silent Bone COSM4575674 CHD4 c.4533T>C p.H1511H Substitution - coding silent Bone COSM4427624 SMARCA4 c.4226C>A p.S1409* Substitution - Nonsense Oesophagus COSM4446176 HDAC4 c.2855-10C>T p.? Unknown Skin COSM4717470 PRDM13 c.1651G>A p.A551T Substitution - Missense Large_intestine COSM4694064 KAT6B c.1010G>A p.R337Q Substitution - Missense Large_intestine COSM4636755 PRDM1 c.1089G>A p.P363P Substitution - coding silent Large_intestine COSM4632747 RERE c.2572C>T p.Q858* Substitution - Nonsense Large_intestine COSM4629618 PHF8 c.756C>G p.G252G Substitution - coding silent Large_intestine COSM4623705 BAHCC1 c.5704C>A p.L1902M Substitution - Missense Large_intestine COSM4619912 WHSC1L1 c.558G>A p.T186T Substitution - coding silent Large_intestine COSM4754815 KMT2D c.6103G>T p.G2035C Substitution - Missense Stomach COSM4760987 ATAD2 c.122C>T p.S41L Substitution - Missense Stomach COSM4750651 SCML2 c.108G>T p.E36D Substitution - Missense Stomach COSM4895922 TCF20 c.1399C>T p.P467S Substitution - Missense Skin COSM4898760 DIDO1 c.6338G>A p.R2113K Substitution - Missense Skin COSM4927721 PRDM16 c.1507G>T p.A503S Substitution - Missense Liver COSM4927780 TRIM28 c.2062G>T p.D688Y Substitution - Missense Liver COSM5413063 HDAC8 c.1024C>T p.P342S Substitution - Missense Skin COSM5413317 ARID2 c.2350C>T p.P784S Substitution - Missense Skin COSM5411600 MORF4L2 c.195G>A p.E65E Substitution - coding silent Skin COSM5507087 MBD5 c.1890G>C p.M630I Substitution - Missense Biliary_tract COSM5518679 TDRD6 c.1461C>T p.A487A Substitution - coding silent Biliary_tract COSM5436781 PRDM16 c.2236G>A p.A746T Substitution - Missense Oesophagus COSM5422404 KDM3B c.4794G>T p.V1598V Substitution - coding silent Prostate COSM5628343 PHF10 c.966T>C p.P322P Substitution - coding silent Oesophagus COSM5751280 CREBBP c.4174C>CT p.R1392fs*9 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM5762256 ATRX c.788G>A p.W263* Substitution - Nonsense Central_nervous_system COSM5752181 NCOR1 c.1879delC p.R627fs*14 Deletion - Frameshift Breast COSM5680572 SMCHD1 c.3528T>C p.H1176H Substitution - coding silent Soft_tissue COSM5707608 SMARCB1 c.1087A>T p.K363* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5553886 SMC1A c.2879A>G p.E960G Substitution - Missense Prostate COSM5551960 NIPBL c.8160T>G p.D2720E Substitution - Missense Prostate COSM5552060 MUM1 c.1176C>T p.D392D Substitution - coding silent Prostate COSM5880665 CREBBP c.346A>G p.S116G Substitution - Missense Soft_tissue COSM5948759 SHPRH c.4840C>A p.H1614N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5897160 SETBP1 c.2693C>T p.S898F Substitution - Missense Skin COSM5930740 SMYD3 c.773C>T p.S258F Substitution - Missense Skin COSM5944048 ZMYM2 c.1318delT p.F440fs*4 Deletion - Frameshift Skin COSM5905282 CHD4 c.3880-4C>T p.? Unknown Skin COSM5936703 EP300 c.5404C>T p.P1802S Substitution - Missense Skin COSM5960564 TAF1 c.410C>T p.S137L Substitution - Missense Breast COSM5962197 ARID1B c.1100C>A p.S367* Substitution - Nonsense Breast COSM5997327 KMT2C c.3936C>T p.S1312S Substitution - coding silent Prostate COSM6003185 SMCHD1 c.3870G>A p.A1290A Substitution - coding silent Prostate COSM5972070 RAI1 c.2952G>A p.A984A Substitution - coding silent Upper_aerodigestive_tract COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM53115 TET2 c.? p.H1380P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52000 TET2 c.? p.Q690fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM1716177 EZH2 c.? p.Y646H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716177 EZH2 c.? p.Y646H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM914369 ASXL1 c.? p.E1426* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM97048 IDH2 c.? p.R140? Unknown Haematopoietic_and_lymphoid_tissue COSM4806006 MEN1 c.22A>T p.K8* Substitution - Nonsense Liver COSM2755264 KDM4B c.1848C>T p.G616G Substitution - coding silent Skin COSM3144295 KDM5D c.1092G>A p.A364A Substitution - coding silent Bone COSM1108 SMARCB1 c.? p.? Unknown Soft_tissue COSM4110040 KDM5C c.3120+2T>C p.? Unknown Stomach COSM1125479 ATRX c.2696C>T p.T899M Substitution - Missense Endometrium COSM280911 EYA4 c.1393C>A p.L465I Substitution - Missense Large_intestine COSM5740181 ALKBH1 c.1124A>G p.D375G Substitution - Missense Small_intestine COSM5784748 RNF17 c.431A>G p.D144G Substitution - Missense Breast COSM4845295 ATRX c.4560G>C p.V1520V Substitution - coding silent Cervix COSM181359 PRDM2 c.5048G>A p.R1683H Substitution - Missense Lung COSM1469472 ATRX c.3392G>T p.R1131I Substitution - Missense Large_intestine COSM51232 ARID1A c.1663C>T p.Q555* Substitution - Nonsense Ovary COSM5723289 SCML2 c.607C>T p.H203Y Substitution - Missense Skin COSM4728344 SMARCC2 c.1354G>A p.G452S Substitution - Missense Large_intestine COSM211713 TET2 c.3532G>T p.E1178* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM211643 TET2 c.3782G>A p.R1261H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Large_intestine COSM4685800 FTO c.866T>C p.L289P Substitution - Missense Large_intestine COSM4438259 KMT2D c.6820delG p.E2274fs*4 Deletion - Frameshift Oesophagus COSM5431603 KMT2C c.2530C>A p.Q844K Substitution - Missense Oesophagus COSM4773979 MEN1 c.230delA p.Y77fs*42 Deletion - Frameshift Stomach COSM3911511 EYA2 c.741G>A p.G247G Substitution - coding silent Skin COSM975871 NCOR1 c.4444C>T p.R1482W Substitution - Missense Stomach COSM3816841 MORF4L1 c.550G>A p.E184K Substitution - Missense Breast COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM1179107 KMT2C c.851G>A p.R284Q Substitution - Missense Soft_tissue COSM5752683 ARID1A c.6115C>T p.Q2039* Substitution - Nonsense Breast COSM1184977 BRWD1 c.5246A>C p.K1749T Substitution - Missense Large_intestine COSM423036 BAP1 c.1793delC p.P598fs*19 Deletion - Frameshift Kidney COSM3930388 SETDB1 c.3708C>T p.F1236F Substitution - coding silent Urinary_tract COSM6016786 BPTF c.442G>A p.E148K Substitution - Missense Skin COSM4498236 MGA c.5308C>T p.P1770S Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM273898 ADNP c.1779A>G p.P593P Substitution - coding silent Large_intestine COSM1230390 TRIM66 c.2393T>C p.V798A Substitution - Missense Large_intestine COSM5031164 KDM6A c.? p.Q779fs*9 Frameshift Thymus COSM1083684 MLL5 c.3298C>T p.R1100* Substitution - Nonsense Endometrium COSM249685 NCOR1 c.448G>A p.G150R Substitution - Missense Large_intestine COSM961213 BAHD1 c.1648C>T p.R550C Substitution - Missense Oesophagus COSM5666239 FMR1 c.203A>G p.Y68C Substitution - Missense Soft_tissue COSM1159500 CDYL2 c.1495C>G p.L499V Substitution - Missense Pancreas COSM4848365 HDAC10 c.1272T>C p.V424V Substitution - coding silent Cervix COSM1123031 SMC1A c.2095C>T p.R699C Substitution - Missense Endometrium COSM1083680 MLL5 c.2763A>C p.E921D Substitution - Missense Endometrium COSM74416 DNMT3A c.1241T>C p.F414S Substitution - Missense Ovary COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1196387 KMT2D c.9584G>T p.G3195V Substitution - Missense Lung COSM3951831 NCOA2 c.2952A>G p.P984P Substitution - coding silent Lung COSM342251 ASXL3 c.2380A>T p.M794L Substitution - Missense Lung COSM1749060 SETD3 c.478C>T p.H160Y Substitution - Missense Urinary_tract COSM3704169 HDAC7 c.694C>T p.R232W Substitution - Missense Liver COSM3443999 KMT2A c.8448C>T p.S2816S Substitution - coding silent Skin COSM3525875 SETBP1 c.3764C>T p.P1255L Substitution - Missense Skin COSM3817651 GTF3C1 c.5230G>C p.E1744Q Substitution - Missense Breast COSM3493337 BRDT c.2033C>T p.P678L Substitution - Missense Skin COSM246565 PHF21B c.1412G>A p.R471H Substitution - Missense Breast COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM6003166 CBX2 c.402C>T p.P134P Substitution - coding silent Prostate COSM3463384 SMARCC2 c.2199C>T p.F733F Substitution - coding silent Large_intestine COSM1336717 TDRD5 c.1927G>A p.E643K Substitution - Missense Skin COSM907723 ARID1A c.4003C>T p.R1335* Substitution - Nonsense Large_intestine COSM2059734 PCGF6 c.783-3C>T p.? Unknown Skin COSM332075 PRDM9 c.949_950AG>TT p.R317>? Complex Lung COSM435534 CTCF c.850C>T p.H284Y Substitution - Missense Breast COSM1630066 NCOR1 c.515C>T p.S172L Substitution - Missense Upper_aerodigestive_tract COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5904341 TAF1L c.2843C>T p.A948V Substitution - Missense Skin COSM4556314 SMARCA2 c.687G>A p.Q229Q Substitution - coding silent Skin COSM3551324 DNMT3L c.739C>T p.P247S Substitution - Missense Skin COSM3839140 NCOA1 c.3099A>C p.S1033S Substitution - coding silent Breast COSM5419290 SMCHD1 c.3721C>T p.H1241Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2803081 CHD3 c.3560G>A p.R1187H Substitution - Missense Large_intestine COSM221081 KMT2D c.7917_7920delAAGT p.S2640fs*32 Deletion - Frameshift Prostate COSM1108232 TAF1L c.2929G>T p.G977W Substitution - Missense Endometrium COSM228578 KMT2D c.2510C>T p.P837L Substitution - Missense Skin COSM3774230 BAG6 c.1855T>C p.S619P Substitution - Missense Soft_tissue COSM28787 KDM6A c.2654_2663del10 p.M885fs*10 Deletion - Frameshift Kidney COSM5005771 TIF1 c.1056C>G p.L352L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM379884 SRCAP c.5135C>T p.P1712L Substitution - Missense Skin COSM1433182 PHF15 c.1742G>A p.R581Q Substitution - Missense Large_intestine COSM4725126 SETBP1 c.585G>A p.T195T Substitution - coding silent Large_intestine COSM5462108 KDM4D c.920C>T p.A307V Substitution - Missense Large_intestine COSM4064149 NCOR1 c.5159G>A p.R1720Q Substitution - Missense Stomach COSM3991218 NCOA1 c.4225C>T p.L1409L Substitution - coding silent Kidney COSM4146785 SETD8 c.362A>G p.K121R Substitution - Missense Thyroid COSM4548049 CHD7 c.4381G>C p.E1461Q Substitution - Missense Skin COSM5144009 ZMYM1 c.2132T>G p.I711R Substitution - Missense Large_intestine COSM2149335 CDYL2 c.1214C>T p.A405V Substitution - Missense Central_nervous_system COSM315204 SIRT3 c.399G>T p.R133R Substitution - coding silent Lung COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Central_nervous_system COSM4832848 SRCAP c.7406C>A p.S2469* Substitution - Nonsense Cervix COSM1023504 KDM3A c.2778G>A p.R926R Substitution - coding silent Endometrium COSM4765399 HNF1A c.865_866insC p.G292fs*25 Insertion - Frameshift Stomach COSM5043254 TAF1L c.745C>A p.L249I Substitution - Missense Liver COSM3528435 SMARCA4 c.4101C>T p.F1367F Substitution - coding silent Skin COSM1705492 ARID2 c.4459C>A p.P1487T Substitution - Missense Skin COSM3438382 ERCC6 c.2219C>T p.P740L Substitution - Missense Skin COSM4124001 WHSC1 c.2033G>A p.S678N Substitution - Missense Stomach COSM979857 HDAC5 c.2501C>T p.A834V Substitution - Missense Endometrium COSM22666 MEN1 c.1378C>T p.R460* Substitution - Nonsense Parathyroid COSM354564 JHDM1D c.856G>T p.G286C Substitution - Missense Lung COSM318773 ARID2 c.5183G>C p.R1728T Substitution - Missense Lung COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM613037 KDM5C c.2023C>T p.Q675* Substitution - Nonsense Kidney COSM4970576 SETD2 c.4816C>T p.R1606* Substitution - Nonsense Central_nervous_system COSM252979 CLOCK c.368delT p.L123fs*1 Deletion - Frameshift Large_intestine COSM252979 CLOCK c.368delT p.L123fs*1 Deletion - Frameshift Stomach COSM442458 SP100 c.1746G>C p.L582F Substitution - Missense Breast COSM4320675 PHC3 c.1850-3C>T p.? Unknown Skin COSM6004417 ZMYND8 c.3228C>T p.S1076S Substitution - coding silent Prostate COSM1075363 ARID1B c.5982G>A p.W1994* Substitution - Nonsense Endometrium COSM3775240 PBRM1 c.3145G>A p.E1049K Substitution - Missense Urinary_tract COSM3353049 TDRD6 c.633C>T p.R211R Substitution - coding silent Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3879565 KMT2C c.7256C>A p.P2419H Substitution - Missense Stomach COSM4650190 PWWP2B c.1354G>A p.A452T Substitution - Missense Large_intestine COSM5945607 PHF6 c.725G>T p.C242F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1237837 MEN1 c.1248C>G p.F416L Substitution - Missense Thyroid COSM4883626 PRMT6 c.379C>A p.P127T Substitution - Missense Upper_aerodigestive_tract COSM289947 MUM1 c.1307_1311delGAGAT p.R436fs*24 Deletion - Frameshift Large_intestine COSM5564331 TET2 c.3784C>T p.R1262W Substitution - Missense Prostate COSM5809471 ARID2 c.1121-2A>G p.? Unknown Liver COSM4804494 L3MBTL3 c.537G>T p.L179L Substitution - coding silent Liver COSM2152985 DNMT3L c.220G>A p.A74T Substitution - Missense Central_nervous_system COSM1611165 SMCHD1 c.2459A>G p.N820S Substitution - Missense Liver COSM4043526 SMARCC2 c.1900G>A p.E634K Substitution - Missense Stomach COSM3422367 DNMT1 c.2193C>A p.I731I Substitution - coding silent Large_intestine COSM4441394 SMEK2 c.1940T>C p.V647A Substitution - Missense Large_intestine COSM4383750 TET2 c.307C>G p.L103V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3753974 METTL21D c.188C>A p.A63D Substitution - Missense Thyroid COSM43438 TET2 c.5473C>T p.Q1825* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1477063 ING1 c.435C>T p.P145P Substitution - coding silent Breast COSM4854747 MGA c.8523G>T p.L2841L Substitution - coding silent Cervix COSM20659 TAF1L c.2553delA p.A852fs*14 Deletion - Frameshift Ovary COSM2853466 BAP1 c.1445C>T p.S482L Substitution - Missense Large_intestine COSM5384951 BRD7 c.1853C>T p.S618F Substitution - Missense Skin COSM23024 MEN1 c.824+2T>G p.? Unknown Parathyroid COSM1757271 KDM6A c.3293T>A p.L1098* Substitution - Nonsense Urinary_tract COSM5642059 KMT2D c.4312A>T p.K1438* Substitution - Nonsense Oesophagus COSM1315739 UTY c.2793C>G p.F931L Substitution - Missense Urinary_tract COSM3637093 HDAC9 c.3099G>A p.E1033E Substitution - coding silent Skin COSM1169216 IDH1 c.394_395CG>TC p.R132S Substitution - Missense Central_nervous_system COSM4102327 PRMT2 c.1042C>T p.Q348* Substitution - Nonsense Stomach COSM52867 PBRM1 c.2124_2125delAA p.K708fs*14 Deletion - Frameshift Kidney COSM3353079 TDRD6 c.2730A>G p.I910M Substitution - Missense Large_intestine COSM1706180 HCFC2 c.218C>T p.A73V Substitution - Missense Skin COSM5638139 KMT2D c.9079_9080delTT p.L3027fs*3 Deletion - Frameshift Oesophagus COSM5458947 EP300 c.1854C>T p.D618D Substitution - coding silent Large_intestine COSM4054833 TP53BP1 c.4312C>A p.R1438S Substitution - Missense Stomach COSM3957564 CREBBP c.5048G>C p.R1683P Substitution - Missense Central_nervous_system COSM956536 ARID4A c.2569C>T p.R857W Substitution - Missense Endometrium COSM99742 DNMT3A c.2191_2193delTTC p.F731del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM4384308 KMT2C c.10748C>T p.P3583L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM160793 EP400 c.8812G>A p.V2938I Substitution - Missense Breast COSM972484 CTCF c.1061C>T p.S354F Substitution - Missense Skin COSM3424248 BRD1 c.943G>A p.V315M Substitution - Missense Large_intestine COSM300051 EP400 c.8457G>A p.P2819P Substitution - coding silent Large_intestine COSM1025797 DNMT3B c.1249C>T p.R417* Substitution - Nonsense Endometrium COSM6003335 AP001011.3_ENST00000320876 c.138G>T p.Q46H Substitution - Missense Prostate COSM1108210 TAF1L c.5184G>T p.E1728D Substitution - Missense Endometrium COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5770636 HCFC1 c.2854G>T p.V952F Substitution - Missense Breast COSM2948441 KAT2B c.898C>T p.R300W Substitution - Missense Liver COSM1163448 PHF3 c.5462C>A p.P1821H Substitution - Missense Pancreas COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM21700 KDM1A c.577+5G>T p.? Unknown Lung COSM3798591 IDH1 c.682C>T p.Q228* Substitution - Nonsense Urinary_tract COSM3697749 BAG6 c.3105C>A p.A1035A Substitution - coding silent Large_intestine COSM4313887 MSH6 c.4002-8A>T p.? Unknown Biliary_tract COSM5034415 L3MBTL4 c.351T>C p.H117H Substitution - coding silent Oesophagus COSM4566273 NCOA6 c.3396_3397CC>TT p.P1133S Substitution - Missense Skin COSM5944387 ASXL1 c.2381_2384delCTTC p.S795fs*22 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1179669 KMT2C c.943G>A p.G315S Substitution - Missense Soft_tissue COSM452676 KMT2C c.12470delT p.L4157fs*1 Deletion - Frameshift Breast COSM5349810 KMT2D c.6125C>T p.S2042L Substitution - Missense Lung COSM3089746 EHMT1 c.3489C>T p.N1163N Substitution - coding silent Large_intestine COSM1107170 EHMT1 c.745G>T p.V249F Substitution - Missense Liver COSM5806750 PHF20 c.2090G>T p.C697F Substitution - Missense Liver COSM2140812 CHD2 c.192G>A p.S64S Substitution - coding silent Prostate COSM1204451 DOT1L c.3779C>T p.P1260L Substitution - Missense Large_intestine COSM42040 TET2 c.4240C>T p.Q1414* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Bone COSM3637087 HDAC9 c.2930G>A p.G977E Substitution - Missense Skin COSM4949921 BRWD3 c.4172A>T p.Y1391F Substitution - Missense Liver COSM5504203 BRD7 c.1677C>A p.A559A Substitution - coding silent Biliary_tract COSM3033659 MECP2 c.1137C>T p.P379P Substitution - coding silent Stomach COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Bone COSM1021295 MSH6 c.3141G>A p.W1047* Substitution - Nonsense Endometrium COSM4414487 CREBBP c.95C>T p.S32L Substitution - Missense Kidney COSM1451969 BAZ1B c.3559T>C p.C1187R Substitution - Missense Large_intestine COSM1754518 EYA4 c.822A>T p.T274T Substitution - coding silent Urinary_tract COSM4669560 CBX2 c.855C>T p.G285G Substitution - coding silent Large_intestine COSM5187157 MTA1 c.1123G>A p.G375S Substitution - Missense Large_intestine COSM5776488 TRRAP c.7764+9G>A p.? Unknown Breast COSM5962174 ATAD2B_ENST00000238789 c.1482A>G p.A494A Substitution - coding silent Breast COSM3296123 MBD5 c.1224A>T p.P408P Substitution - coding silent Upper_aerodigestive_tract COSM4488461 CBX2 c.332C>T p.S111F Substitution - Missense Skin COSM1284576 DNMT3B c.154A>C p.S52R Substitution - Missense Autonomic_ganglia COSM293093 TDRD7 c.2132T>C p.L711P Substitution - Missense Large_intestine COSM3493330 BRDT c.1252G>A p.E418K Substitution - Missense Skin COSM5597095 KMT2D c.13083C>T p.P4361P Substitution - coding silent Skin COSM5054928 CHD9 c.685C>G p.Q229E Substitution - Missense Stomach COSM5915684 KMT2C c.6212C>T p.P2071L Substitution - Missense Skin COSM3939998 KDM6A c.328C>T p.P110S Substitution - Missense Oesophagus COSM2076870 PRDM16 c.212C>T p.P71L Substitution - Missense Skin COSM5972729 MUM1 c.176T>C p.I59T Substitution - Missense Upper_aerodigestive_tract COSM3405080 CHD6 c.6810A>G p.G2270G Substitution - coding silent Central_nervous_system COSM5718374 TRRAP c.5964C>T p.A1988A Substitution - coding silent Skin COSM1756789 MBD6 c.1199C>G p.S400C Substitution - Missense Urinary_tract COSM5599590 GABRG1 c.490C>T p.P164S Substitution - Missense Skin COSM2158401 JMJD1C c.5306A>T p.Q1769L Substitution - Missense Oesophagus COSM5625891 KMT2A c.1706C>T p.P569L Substitution - Missense Oesophagus COSM720761 DNMT3A c.2375G>A p.R792H Substitution - Missense Lung COSM5765692 DNMT3L c.730G>A p.A244T Substitution - Missense Large_intestine COSM2183627 POGZ c.1505G>A p.R502K Substitution - Missense Large_intestine COSM1600979 HDGF c.649G>A p.E217K Substitution - Missense Liver COSM1299879 APOBEC1 c.94C>A p.L32I Substitution - Missense Urinary_tract COSM3353141 TDRD6 c.5514G>A p.P1838P Substitution - coding silent Large_intestine COSM738287 PRDM9 c.208C>T p.R70* Substitution - Nonsense Lung COSM3431948 ZCWPW1 c.1690G>T p.E564* Substitution - Nonsense Large_intestine COSM1124795 ZMYM3 c.4018G>A p.D1340N Substitution - Missense Endometrium COSM79135 ARID1A c.1991C>G p.S664* Substitution - Nonsense Ovary COSM1625693 HCFC1 c.3195T>A p.S1065S Substitution - coding silent Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM124866 NSD1 c.5951G>A p.R1984Q Substitution - Missense Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5576073 KMT2D c.14902C>T p.R4968W Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM681084 PRDM16 c.2852A>G p.Y951C Substitution - Missense Lung COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1637028 EYA4 c.1327G>T p.G443W Substitution - Missense Bone COSM3890965 ASXL3 c.2006C>T p.S669L Substitution - Missense Skin COSM4537050 ZBTB4 c.2378G>A p.G793E Substitution - Missense Skin COSM4456711 ZMYM4 c.1019C>T p.S340F Substitution - Missense Skin COSM145956 SMARCD3 c.1012G>A p.D338N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM166748 PRDM9 c.2295A>T p.R765S Substitution - Missense Lung COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM292731 CHD1 c.3960delA p.E1321fs*22 Deletion - Frameshift Pancreas COSM1169673 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM302137 EP400 c.8181A>G p.Q2727Q Substitution - coding silent Kidney COSM1583087 DNMT3A c.1920_1920delT p.F640fs*11 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5032490 ZGPAT c.660C>T p.A220A Substitution - coding silent Oesophagus COSM5493587 KAT2A c.1672C>T p.R558W Substitution - Missense Biliary_tract COSM5061576 JARID2 c.3672G>A p.A1224A Substitution - coding silent Stomach COSM4074002 CARM1 c.695C>T p.T232M Substitution - Missense Stomach COSM4170164 TET2 c.1236_1243delTCCACAGG p.P413fs*27 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5695582 UHRF1 c.313G>T p.D105Y Substitution - Missense Soft_tissue COSM212897 ATRX c.6895C>T p.P2299S Substitution - Missense Breast COSM401400 EP400 c.5314_5315GA>TG p.E1772* Substitution - Nonsense Lung COSM4134751 DIDO1 c.4691G>T p.R1564M Substitution - Missense Thyroid COSM5916807 ADNP c.2897A>T p.K966I Substitution - Missense Skin COSM451292 RING1 c.1004A>G p.E335G Substitution - Missense Upper_aerodigestive_tract COSM4383835 TET2 c.2207C>G p.S736* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1215192 KMT2D c.3453T>G p.C1151W Substitution - Missense Large_intestine COSM1091560 BAZ1B c.2822G>A p.C941Y Substitution - Missense Endometrium COSM1636619 BRWD3 c.3637A>G p.I1213V Substitution - Missense Liver COSM5747346 PRDM10 c.209A>G p.Y70C Substitution - Missense Pancreas COSM3713960 SMC1A c.3196C>T p.R1066C Substitution - Missense Upper_aerodigestive_tract COSM1091574 BAZ1B c.482G>A p.S161N Substitution - Missense Endometrium COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1070 SMARCB1 c.631A>T p.K211* Substitution - Nonsense Soft_tissue COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53002 EZH2 c.786_787insC p.N263fs*8 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM87176 TET2 c.5162T>A p.L1721* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM100083 KMT2C c.10313G>A p.G3438D Substitution - Missense Large_intestine COSM112130 NCOA3 c.3595_3596insCTG p.A1200_G1201insA Insertion - In frame Ovary COSM145384 EYA1 c.356A>T p.Q119L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM150401 JHDM1D c.303C>T p.H101H Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM166406 CREBBP c.4231G>A p.G1411R Substitution - Missense Oesophagus COSM191481 SMC1A c.1057C>T p.R353W Substitution - Missense Endometrium COSM251387 ARID1A c.3818_3843>G p.M1273fs Complex Liver COSM258883 DIDO1 c.5648G>T p.G1883V Substitution - Missense Large_intestine COSM298472 MORF4L2 c.614C>T p.P205L Substitution - Missense Large_intestine COSM302656 KMT2C c.1138C>T p.R380C Substitution - Missense Central_nervous_system COSM326566 SRCAP c.1894A>G p.M632V Substitution - Missense Lung COSM344446 CHD9 c.6694C>T p.Q2232* Substitution - Nonsense Lung COSM347005 KMT2D c.6186C>T p.T2062T Substitution - coding silent Lung COSM379897 SETBP1 c.1781C>A p.P594H Substitution - Missense Lung COSM417169 RAI1 c.4023C>G p.L1341L Substitution - coding silent Urinary_tract COSM417181 NCOR1 c.2720T>C p.L907P Substitution - Missense Urinary_tract COSM468357 KDM5A c.1609G>A p.V537I Substitution - Missense Kidney COSM982727 SMARCD2 c.1217C>T p.T406I Substitution - Missense Endometrium COSM983352 BPTF c.7777C>T p.R2593W Substitution - Missense Endometrium COSM482572 NSD1 c.4189C>G p.P1397A Substitution - Missense Kidney COSM675860 TDRD10 c.378G>T p.E126D Substitution - Missense Endometrium COSM942087 MBD6 c.1492G>T p.G498* Substitution - Nonsense Endometrium COSM1018699 ATAD2B_ENST00000238789 c.425G>A p.R142Q Substitution - Missense Endometrium COSM907708 ARID1A c.3269G>T p.S1090I Substitution - Missense Endometrium COSM907726 ARID1A c.4336C>T p.R1446* Substitution - Nonsense Oesophagus COSM999864 KDM4B c.2661C>T p.G887G Substitution - coding silent Endometrium COSM1602492 RAD54L c.2243G>T p.*748L Nonstop extension Breast COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1228042 SUV420H1 c.40G>T p.G14C Substitution - Missense Large_intestine COSM1163564 SCML2 c.319_320insT p.W107fs*16 Insertion - Frameshift Pancreas COSM4943266 CREBBP c.5732C>T p.P1911L Substitution - Missense Breast COSM1215637 MTA1 c.403G>A p.E135K Substitution - Missense Large_intestine COSM1286987 PBRM1 c.1797delC p.Y600fs*42 Deletion - Frameshift Autonomic_ganglia COSM1298232 GLYATL1 c.112G>A p.V38M Substitution - Missense Urinary_tract COSM1385202 SMARCD2 c.1312C>T p.R438* Substitution - Nonsense Large_intestine COSM1424479 PHF7 c.932delA p.N312fs*41 Deletion - Frameshift Large_intestine COSM1369035 CHD8 c.1296A>G p.S432S Substitution - coding silent Large_intestine COSM1531244 HDAC4 c.1548G>A p.R516R Substitution - coding silent Large_intestine COSM1565740 NCOA3 c.3765G>A p.Q1255Q Substitution - coding silent Large_intestine COSM1640803 ZBTB4 c.2772C>T p.L924L Substitution - coding silent Stomach COSM1642317 SFMBT1 c.1361G>A p.R454H Substitution - Missense Stomach COSM1681634 NCOA6 c.1739T>C p.M580T Substitution - Missense Large_intestine COSM1681831 DIDO1 c.3986A>T p.D1329V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1702761 BTAF1 c.842G>A p.W281* Substitution - Nonsense Skin COSM1713612 NCOA3 c.2828G>A p.G943E Substitution - Missense Skin COSM1695617 NIPBL c.3190C>T p.P1064S Substitution - Missense Skin COSM1749567 SETD1A c.1733C>G p.S578C Substitution - Missense Urinary_tract COSM2214936 RBBP5 c.753-7C>T p.? Unknown Pancreas COSM2804942 BAHCC1 c.2079C>T p.H693H Substitution - coding silent Large_intestine COSM3075979 BRPF3 c.1946G>A p.R649H Substitution - Missense Upper_aerodigestive_tract COSM3296181 MBD5 c.2418C>A p.S806S Substitution - coding silent Upper_aerodigestive_tract COSM3296310 EPC2 c.2124A>G p.L708L Substitution - coding silent Upper_aerodigestive_tract COSM3356829 CREBBP c.4301T>A p.L1434Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3363684 TCF20 c.774G>C p.Q258H Substitution - Missense Kidney COSM3358880 TAF3 c.2584G>A p.G862S Substitution - Missense Kidney COSM3367205 PHF20L1 c.295G>C p.D99H Substitution - Missense Kidney COSM3380265 UTY c.2422A>G p.K808E Substitution - Missense Pancreas COSM3377741 CHD2 c.2995T>C p.L999L Substitution - coding silent Pancreas COSM3636449 KMT2C c.14545C>T p.H4849Y Substitution - Missense Skin COSM3548770 DIDO1 c.6020C>T p.S2007L Substitution - Missense Prostate COSM3563684 BRWD3 c.1803C>T p.F601F Substitution - coding silent Skin COSM3652169 TDRD7 c.956C>T p.S319F Substitution - Missense Skin COSM3688905 TRIM33 c.2896T>C p.C966R Substitution - Missense Large_intestine COSM3672673 SETBP1 c.2825G>T p.R942L Substitution - Missense Prostate COSM3674973 BAZ1B c.3470G>T p.R1157L Substitution - Missense Prostate COSM3673982 SETD2 c.1163A>T p.K388M Substitution - Missense Prostate COSM3702926 JARID2 c.1037C>T p.A346V Substitution - Missense Liver COSM3736146 CHD9 c.7874G>A p.R2625K Substitution - Missense Skin COSM3767592 SETD5_ENST00000402198 c.2435A>G p.N812S Substitution - Missense Liver COSM3784712 PHF3 c.1263A>T p.L421F Substitution - Missense Pancreas COSM3804656 SMYD3 c.265G>C p.V89L Substitution - Missense Breast COSM3790086 RAD54L c.165G>C p.L55F Substitution - Missense Urinary_tract COSM3850190 PHF15 c.2304T>C p.G768G Substitution - coding silent Stomach COSM3860673 KDM1B c.1346T>C p.F449S Substitution - Missense Stomach COSM3848640 KIAA2026_ENST00000399933 c.964G>C p.E322Q Substitution - Missense Breast COSM3834873 CHD7 c.1537A>T p.T513S Substitution - Missense Breast COSM3871534 KDM5A c.4298G>A p.R1433Q Substitution - Missense Skin COSM3900848 CHD7 c.89C>T p.P30L Substitution - Missense Stomach COSM3948417 GTF3C1 c.2911A>T p.R971W Substitution - Missense Ovary COSM3943882 PHC2 c.2299C>T p.R767W Substitution - Missense Ovary COSM4029675 KDM1A c.2008T>C p.W670R Substitution - Missense Stomach COSM4054481 INOC1 c.381G>A p.K127K Substitution - coding silent Stomach COSM4038329 PRDM4 c.1761A>C p.E587D Substitution - Missense Stomach COSM4034559 PHRF1 c.3560G>A p.R1187Q Substitution - Missense Stomach COSM3998335 PRDM10 c.1317A>G p.Q439Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4086886 ATF2 c.816A>G p.S272S Substitution - coding silent Stomach COSM4097559 ASXL1 c.2698C>T p.P900S Substitution - Missense Stomach COSM4121655 PRDM5 c.912T>C p.C304C Substitution - coding silent Stomach COSM4128195 SP110 c.369C>T p.A123A Substitution - coding silent Ovary COSM4161998 KMT2C c.2726G>A p.R909K Substitution - Missense Upper_aerodigestive_tract COSM4162010 KMT2C c.2573G>T p.W858L Substitution - Missense Lung COSM4170106 TET2 c.3811_3812insG p.C1271fs*29 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4170157 TET2 c.4462delA p.N1489fs*82 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4337505 SFMBT1 c.2204delA p.K735fs*45 Deletion - Frameshift Large_intestine COSM4383939 TET2 c.4130T>C p.F1377S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4399937 TRRAP c.5335C>T p.P1779S Substitution - Missense Skin COSM4594560 KMT2C c.2591A>G p.E864G Substitution - Missense Upper_aerodigestive_tract COSM4491885 NCOA6 c.3881C>T p.P1294L Substitution - Missense Skin COSM4448228 BAHCC1 c.2104C>T p.P702S Substitution - Missense Skin COSM4453499 JMJD1C c.2383A>G p.R795G Substitution - Missense Skin COSM4472733 SCML2 c.1801C>T p.Q601* Substitution - Nonsense Skin COSM4410315 HDAC4 c.443G>A p.R148Q Substitution - Missense Oesophagus COSM4666257 BRWD1 c.649A>G p.N217D Substitution - Missense Large_intestine COSM4694945 KDM3B c.4162G>T p.G1388W Substitution - Missense Large_intestine COSM4694979 KDM4D c.489G>T p.L163L Substitution - coding silent Large_intestine COSM4641775 APOBEC1 c.345C>T p.Y115Y Substitution - coding silent Large_intestine COSM4799634 TCF20 c.4720G>T p.E1574* Substitution - Nonsense Liver COSM4990254 KMT2D c.6624C>A p.A2208A Substitution - coding silent Skin COSM4987204 NSD1 c.1840G>T p.V614L Substitution - Missense Oesophagus COSM4988836 GTF3C4 c.806G>A p.R269Q Substitution - Missense Soft_tissue COSM5020539 MYST3 c.147A>G p.E49E Substitution - coding silent Soft_tissue COSM5027057 TAF1L c.3584G>T p.G1195V Substitution - Missense Breast COSM5020622 KMT2A c.5670A>G p.L1890L Substitution - coding silent Soft_tissue COSM5081278 MPHOSPH8 c.2100G>T p.Q700H Substitution - Missense Large_intestine COSM5046791 PHF3 c.5416C>T p.Q1806* Substitution - Nonsense Oesophagus COSM5372040 PRDM10 c.3079C>T p.L1027L Substitution - coding silent Skin COSM5362733 CHD8 c.696G>A p.Q232Q Substitution - coding silent Large_intestine COSM5375227 HDAC7 c.495C>T p.P165P Substitution - coding silent Skin COSM5361742 SMARCC2 c.1231G>A p.D411N Substitution - Missense Large_intestine COSM5520645 MBD5 c.3887G>T p.R1296L Substitution - Missense Biliary_tract COSM5466909 PHF3 c.299A>C p.D100A Substitution - Missense Large_intestine COSM5461044 PRDM8 c.573C>T p.D191D Substitution - coding silent Large_intestine COSM5649209 SETD3 c.529C>G p.Q177E Substitution - Missense Oesophagus COSM5751554 SUZ12 c.1805_1806insG p.F603fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5769828 TAF1 c.595C>G p.Q199E Substitution - Missense Breast COSM5609424 KMT2A c.6073T>C p.S2025P Substitution - Missense Skin COSM5607882 ARID2 c.3023C>T p.S1008F Substitution - Missense Skin COSM5670935 RERE c.3252G>T p.S1084S Substitution - coding silent Soft_tissue COSM5673521 MGA c.8867A>T p.D2956V Substitution - Missense Soft_tissue COSM5674935 DAXX c.916C>G p.R306G Substitution - Missense Soft_tissue COSM5879961 SMC1A c.2629C>A p.H877N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5821921 SMARCA4 c.2407A>G p.N803D Substitution - Missense Liver COSM5824140 DNMT3B c.1378G>T p.D460Y Substitution - Missense Liver COSM5805502 SHPRH c.1419A>T p.R473S Substitution - Missense Liver COSM5903931 BPTF c.7067C>T p.P2356L Substitution - Missense Skin COSM5940281 KDM2B c.494C>T p.S165F Substitution - Missense Skin COSM5963343 NCOA3 c.1450C>T p.P484S Substitution - Missense Breast COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM41261 TET2 c.? p.Q1524* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5967251 EZH2 c.? p.Q328fs*23 Frameshift Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5982152 BAZ2B c.4041G>T p.L1347L Substitution - coding silent Upper_aerodigestive_tract COSM1017582 SP110 c.1775C>A p.S592Y Substitution - Missense Endometrium COSM4030434 SMYD3 c.663G>A p.E221E Substitution - coding silent Stomach COSM4551385 KDM4C c.461G>A p.R154H Substitution - Missense Skin COSM380893 CHD2 c.4034G>A p.R1345Q Substitution - Missense Lung COSM5361289 ARID2 c.2607delT p.Q871fs*2 Deletion - Frameshift Large_intestine COSM3551325 DNMT3L c.375G>A p.L125L Substitution - coding silent Skin COSM4590139 KAT2A c.1586A>C p.H529P Substitution - Missense Upper_aerodigestive_tract COSM5570064 PHF21B c.1499C>T p.T500M Substitution - Missense Prostate COSM314668 RAG2 c.1496delA p.K499fs*4 Deletion - Frameshift Lung COSM3854574 PRDM9 c.1758G>C p.G586G Substitution - coding silent Stomach COSM1754404 PRDM1 c.540G>A p.L180L Substitution - coding silent Urinary_tract COSM3746023 KDM4C c.360G>A p.E120E Substitution - coding silent Liver COSM1034765 TCF20 c.3203G>A p.R1068Q Substitution - Missense Endometrium COSM969211 JMJD5 c.848C>T p.P283L Substitution - Missense Endometrium COSM1049164 BRPF1 c.3566A>G p.N1189S Substitution - Missense Prostate COSM1679533 KDM6B c.1033G>A p.E345K Substitution - Missense Large_intestine COSM72166 PHC2 c.2250G>C p.L750F Substitution - Missense Ovary COSM4575778 PHC1 c.217G>A p.V73I Substitution - Missense Bone COSM4445235 CHD8 c.6228delC p.S2076fs*31 Deletion - Frameshift Large_intestine COSM4106536 SMARCA1 c.2116C>T p.R706C Substitution - Missense Stomach COSM1411825 CHD6 c.7718C>T p.P2573L Substitution - Missense Large_intestine COSM703625 GLYR1 c.158C>T p.A53V Substitution - Missense Lung COSM1057 SMARCB1 c.1148delC p.P383fs*>3 Deletion - Frameshift Central_nervous_system COSM4998097 GLYR1 c.961G>A p.V321I Substitution - Missense Pancreas COSM3887812 CHD2 c.1955C>T p.S652F Substitution - Missense Skin COSM4049563 MTA1 c.1835C>T p.A612V Substitution - Missense Stomach COSM1363799 ING4 c.604C>T p.Q202* Substitution - Nonsense Large_intestine COSM254973 TDRD1 c.2005G>C p.D669H Substitution - Missense Urinary_tract COSM3443997 KMT2A c.7937C>T p.P2646L Substitution - Missense Skin COSM4623627 AKAP1 c.2390G>T p.G797V Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM3508212 GTF3C1 c.4674C>T p.A1558A Substitution - coding silent Skin COSM5067886 CHD7 c.8955_8956insG p.D2988fs*2 Insertion - Frameshift Large_intestine COSM12939 TRIM33 c.2431G>A p.E811K Substitution - Missense Lung COSM1722309 MYST3 c.5079A>C p.P1693P Substitution - coding silent Stomach COSM919473 JMJD1C c.4446T>G p.D1482E Substitution - Missense Endometrium COSM1189781 KDM4B c.1768C>T p.R590W Substitution - Missense Lung COSM4950553 LBR c.1315-2A>C p.? Unknown Liver COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41292 IDH1 c.? p.R132G Substitution - Missense Bone COSM1368977 CHD8 c.7112delA p.N2371fs*6 Deletion - Frameshift Stomach COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM239955 GATAD2B c.430G>T p.E144* Substitution - Nonsense Prostate COSM41292 IDH1 c.? p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4563308 RAG2 c.967G>A p.G323R Substitution - Missense Skin COSM1123030 SMC1A c.2131C>T p.R711W Substitution - Missense Large_intestine COSM4731980 TAF1L c.4067G>A p.R1356H Substitution - Missense Large_intestine COSM306072 EZH2 c.2051G>A p.R684H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1756657 ZMYM3 c.3297C>T p.I1099I Substitution - coding silent Urinary_tract COSM146173 CHD2 c.4592+2T>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5476729 SND1 c.1435C>T p.L479L Substitution - coding silent Large_intestine COSM52930 ASXL1 c.2324T>G p.L775* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3832344 KMT2C c.9442G>T p.A3148S Substitution - Missense Breast COSM371584 NCOA3 c.864C>T p.S288S Substitution - coding silent Lung COSM1318617 TET2 c.4060_4061delAG p.R1354fs*46 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4383916 TET2 c.3743T>A p.L1248H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM267427 SIRT1 c.1850C>T p.A617V Substitution - Missense Large_intestine COSM1169602 PBRM1 c.842_854del13 p.Y281fs*15 Deletion - Frameshift Kidney COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4659115 ACTL6B c.70C>T p.R24C Substitution - Missense Large_intestine COSM245780 MSH6 c.1246_1247insT p.K417fs*1 Insertion - Frameshift Prostate COSM1159266 SP100 c.2334G>T p.L778L Substitution - coding silent Pancreas COSM3514692 SMYD4 c.2347C>T p.Q783* Substitution - Nonsense Skin COSM4153956 ASXL3 c.2316G>A p.R772R Substitution - coding silent Kidney COSM1468495 KDM5C c.2949G>A p.W983* Substitution - Nonsense Large_intestine COSM4005180 ATRX c.5485C>G p.P1829A Substitution - Missense Urinary_tract COSM3296293 EPC2 c.1517A>C p.H506P Substitution - Missense Upper_aerodigestive_tract COSM51215 ARID1A c.3659_3684del26 p.M1220fs*2 Deletion - Frameshift Ovary COSM4603826 KMT2D c.5392_5393delCG p.R1798fs*13 Deletion - Frameshift Upper_aerodigestive_tract COSM3774230 BAG6 c.1855T>C p.S619P Substitution - Missense Soft_tissue COSM5927066 EYA2 c.1513G>A p.E505K Substitution - Missense Skin COSM1713333 DNMT3B c.1447G>A p.E483K Substitution - Missense Large_intestine COSM5476533 CLOCK c.2295G>A p.Q765Q Substitution - coding silent Large_intestine COSM5009752 CREBBP c.5444G>A p.G1815D Substitution - Missense Large_intestine COSM2823036 KDM3A c.573T>A p.V191V Substitution - coding silent Large_intestine COSM1123279 PHF8 c.489C>A p.T163T Substitution - coding silent Endometrium COSM3415248 KAT6B c.3449C>A p.S1150* Substitution - Nonsense Large_intestine COSM1378351 FTO c.110A>C p.E37A Substitution - Missense Large_intestine COSM4970068 ZBTB38 c.3134G>A p.R1045Q Substitution - Missense Central_nervous_system COSM4695843 KIAA2026_ENST00000399933 c.5542A>C p.T1848P Substitution - Missense Large_intestine COSM1354948 GLYATL1 c.73G>A p.A25T Substitution - Missense Large_intestine COSM436648 EZH1 c.1964G>C p.R655P Substitution - Missense Breast COSM1318634 TET2 c.375delC p.F125fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4642903 CLOCK c.1459T>C p.S487P Substitution - Missense Large_intestine COSM985963 SIRT7 c.941A>C p.K314T Substitution - Missense Endometrium COSM5945321 CREBBP c.1216+5G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1721369 TCF20 c.534_536delGCA p.Q179delQ Deletion - In frame Skin COSM3837130 BAZ2B c.4439C>T p.P1480L Substitution - Missense Breast COSM919497 JMJD1C c.1956T>C p.H652H Substitution - coding silent Endometrium COSM745897 KMT2C c.14032C>A p.L4678I Substitution - Missense Lung COSM990743 SMARCA4 c.2022G>A p.P674P Substitution - coding silent Endometrium COSM1363144 BAZ2A c.464_465insG p.Q156fs*20 Insertion - Frameshift Large_intestine COSM23343 HDGF c.196T>G p.Y66D Substitution - Missense Lung COSM22614 MEN1 c.1159delG p.E387fs*58 Deletion - Frameshift Pancreas COSM1441795 JARID2 c.1770delC p.P592fs*57 Deletion - Frameshift Large_intestine COSM1620696 CHD1 c.3874G>C p.D1292H Substitution - Missense Liver COSM272208 ZMYM4 c.2849C>T p.P950L Substitution - Missense Large_intestine COSM4169919 ARID1A c.2608C>A p.P870T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5637050 CHD8 c.3378G>C p.Q1126H Substitution - Missense Oesophagus COSM1685364 SETBP1 c.2612T>C p.I871T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM449383 NSD1 c.7317G>A p.L2439L Substitution - coding silent Breast COSM3830925 PHF3 c.2680+1G>C p.? Unknown Breast COSM1058 SMARCB1 c.843G>A p.W281* Substitution - Nonsense Soft_tissue COSM1289067 ZMYM1 c.2441G>A p.R814H Substitution - Missense Autonomic_ganglia COSM5821665 ZCWPW2 c.187A>T p.N63Y Substitution - Missense Liver COSM253161 AKAP1 c.946G>A p.G316S Substitution - Missense Kidney COSM4426098 BRWD1 c.4989C>A p.H1663Q Substitution - Missense Oesophagus COSM4751665 GTF3C1 c.2962G>C p.D988H Substitution - Missense Stomach COSM1587032 ZMYM2 c.208C>T p.P70S Substitution - Missense Endometrium COSM4002750 PBRM1 c.996-4G>A p.? Unknown Kidney COSM4765947 KDM2B c.1624_1625insCC p.K542fs*32 Insertion - Frameshift Stomach COSM5725359 ZMYND11 c.1181T>C p.V394A Substitution - Missense Skin COSM3973849 TAF1 c.5189G>T p.S1730I Substitution - Missense Central_nervous_system COSM2879172 MBD1 c.1072G>A p.D358N Substitution - Missense Large_intestine COSM5517489 RAI1 c.3369G>A p.P1123P Substitution - coding silent Biliary_tract COSM723964 NCOA6 c.4G>A p.V2I Substitution - Missense Lung COSM3656092 EHMT1 c.3113C>G p.S1038C Substitution - Missense Skin COSM307767 ASXL1 c.1902_1924del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3809001 SIRT3 c.874G>T p.V292L Substitution - Missense Breast COSM1296223 ARID1A c.3283C>T p.Q1095* Substitution - Nonsense Urinary_tract COSM213604 BRWD3 c.4900G>T p.D1634Y Substitution - Missense Breast COSM1076377 KDM1B c.507C>T p.C169C Substitution - coding silent Endometrium COSM1128978 SETD1A c.4240G>A p.A1414T Substitution - Missense Prostate COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM285353 SRCAP c.4782G>T p.Q1594H Substitution - Missense Large_intestine COSM1262966 PRDM9 c.1014G>T p.Q338H Substitution - Missense Stomach COSM364328 HDAC7 c.1639C>T p.R547C Substitution - Missense Lung COSM4485785 PHF12 c.2975C>T p.P992L Substitution - Missense Skin COSM3815997 INOC1 c.532A>G p.K178E Substitution - Missense Breast COSM1617865 PHF7 c.557A>C p.H186P Substitution - Missense Liver COSM1067 SMARCB1 c.108_126del19 p.L36fs*13 Deletion - Frameshift Soft_tissue COSM3921526 DAXX c.122C>T p.S41F Substitution - Missense Skin COSM5634373 SETD7 c.792G>C p.G264G Substitution - coding silent Oesophagus COSM4881564 BRWD1 c.815C>G p.S272* Substitution - Nonsense Upper_aerodigestive_tract COSM163445 PHF20 c.1027G>A p.D343N Substitution - Missense Breast COSM4891479 HDAC1 c.1089-1G>A p.? Unknown Upper_aerodigestive_tract COSM1629920 CHD9 c.4527A>T p.R1509R Substitution - coding silent Liver COSM709403 CXXC1 c.468G>C p.Q156H Substitution - Missense Prostate COSM241569 SETBP1 c.1589G>A p.R530Q Substitution - Missense Skin COSM5944139 TET2 c.3927_3928insT p.K1310fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM147595 TDG c.510G>A p.E170E Substitution - coding silent Breast COSM1736326 PHF2 c.2252C>G p.A751G Substitution - Missense Central_nervous_system COSM446833 BAP1 c.145C>G p.L49V Substitution - Missense Kidney COSM4171971 TAF1 c.2843T>G p.L948R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1755469 ZCWPW1 c.1724C>A p.S575* Substitution - Nonsense Urinary_tract COSM234254 IDH1 c.592C>T p.Q198* Substitution - Nonsense Skin COSM1465246 ZBTB33 c.563_564insTGA p.D194_V195insD Insertion - In frame Central_nervous_system COSM1187474 KMT2C c.5335G>C p.E1779Q Substitution - Missense Lung COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1008145 BAZ2B c.5719C>T p.R1907C Substitution - Missense Endometrium COSM5005943 DPF2 c.247C>T p.R83W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4817343 PHF12 c.1131G>A p.L377L Substitution - coding silent Cervix COSM4407839 TAF1L c.3763C>T p.R1255W Substitution - Missense Pancreas COSM458867 SUV39H2 c.968A>T p.D323V Substitution - Missense Cervix COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3946869 BRD8 c.3398C>T p.S1133L Substitution - Missense Lung COSM5719630 SMYD1 c.1333G>A p.E445K Substitution - Missense Skin COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1756768 EP400 c.5424C>G p.S1808S Substitution - coding silent Urinary_tract COSM3798076 BAZ2B c.4660G>A p.E1554K Substitution - Missense Urinary_tract COSM4494036 TAF1L c.4255C>T p.P1419S Substitution - Missense Skin COSM4820990 TDRD6 c.1093G>C p.E365Q Substitution - Missense Cervix COSM4992930 KMT2C c.8000C>T p.P2667L Substitution - Missense Skin COSM3379218 BAZ2B c.4118G>A p.R1373H Substitution - Missense Pancreas COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384784 KDM2B c.1831C>T p.P611S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4742141 ZBTB38 c.824C>T p.S275L Substitution - Missense Large_intestine COSM3827765 NSD1 c.6479C>T p.P2160L Substitution - Missense Breast COSM731417 SETD5_ENST00000402198 c.3899C>T p.S1300F Substitution - Missense Lung COSM937500 ATF7IP c.1673A>C p.K558T Substitution - Missense Endometrium COSM3451012 MTA2 c.1041C>T p.I347I Substitution - coding silent Skin COSM5465776 MECOM c.1368C>T p.F456F Substitution - coding silent Large_intestine COSM4693839 JMJD1C c.3665C>T p.P1222L Substitution - Missense Large_intestine COSM908651 ZMYM1 c.3303G>T p.M1101I Substitution - Missense Endometrium COSM1313692 ATAD2 c.814G>C p.D272H Substitution - Missense Urinary_tract COSM1663333 PBRM1 c.3188A>G p.Y1063C Substitution - Missense Kidney COSM3867725 SFMBT2 c.1183C>T p.P395S Substitution - Missense Skin COSM211683 TET2 c.1860C>A p.Y620* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1045469 SETD2 c.2978G>A p.R993Q Substitution - Missense Adrenal_gland COSM3927754 BAZ2B c.977A>C p.H326P Substitution - Missense Thyroid COSM1018694 ATAD2B_ENST00000238789 c.781G>T p.E261* Substitution - Nonsense Endometrium COSM3760322 TET2 c.5284A>G p.I1762V Substitution - Missense Prostate COSM1459706 PHF19 c.1543G>A p.E515K Substitution - Missense Large_intestine COSM3748302 PRDM9 c.2431C>T p.R811W Substitution - Missense Central_nervous_system COSM3589891 MECOM c.720G>A p.E240E Substitution - coding silent Skin COSM1581250 KMT2C c.6034C>T p.P2012S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM452151 PHF14 c.264A>G p.E88E Substitution - coding silent Breast COSM4989853 IKZF1 c.? p.F471>LRA Complex - insertion inframe Haematopoietic_and_lymphoid_tissue COSM294549 MBD1 c.685C>T p.R229W Substitution - Missense Large_intestine COSM5005659 MBD5 c.3896G>A p.R1299Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM230153 NCOA2 c.1523C>T p.S508F Substitution - Missense Skin COSM4969524 ARID1B c.1177_1178insCCG p.S393_Q394insA Insertion - In frame Haematopoietic_and_lymphoid_tissue COSM4806625 TRIM24 c.733G>T p.D245Y Substitution - Missense Pancreas COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM294720 PRDM15 c.415T>C p.S139P Substitution - Missense Large_intestine COSM3637545 STK31 c.1666G>A p.E556K Substitution - Missense Skin COSM5794223 BRPF1 c.2164C>T p.R722W Substitution - Missense Breast COSM1634750 RING1 c.1169A>C p.K390T Substitution - Missense Liver COSM1360187 EP400 c.8184G>A p.Q2728Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3915312 MECOM c.2191G>A p.E731K Substitution - Missense Skin COSM1308202 EP300 c.1891C>G p.H631D Substitution - Missense Urinary_tract COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Soft_tissue COSM4044320 CHD4 c.4005A>C p.K1335N Substitution - Missense Stomach COSM1238223 ARID2 c.1787T>C p.V596A Substitution - Missense Oesophagus COSM3419898 ARID4A c.232G>A p.A78T Substitution - Missense Large_intestine COSM1084036 PHF14 c.103G>A p.D35N Substitution - Missense Endometrium COSM13871 ERCC6 c.3113G>C p.R1038T Substitution - Missense Breast COSM5468650 ATAD2 c.3495A>G p.K1165K Substitution - coding silent Large_intestine COSM684734 JMJD1C c.6303A>G p.E2101E Substitution - coding silent Lung COSM255213 MEN1 c.1621A>G p.T541A Substitution - Missense Soft_tissue COSM3758609 EYA2 c.738C>T p.D246D Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3669919 NCOA2 c.3997A>G p.T1333A Substitution - Missense Liver COSM3810477 RSF1 c.2775G>C p.L925L Substitution - coding silent Breast COSM4787837 SMARCC2 c.3602C>T p.A1201V Substitution - Missense Liver COSM225885 KMT2C c.1139G>T p.R380L Substitution - Missense Soft_tissue COSM4064330 RAI1 c.1625T>C p.V542A Substitution - Missense Stomach COSM3795755 MYST2 c.666G>A p.V222V Substitution - coding silent Urinary_tract COSM3964045 PRMT2 c.554T>C p.F185S Substitution - Missense Lung COSM1177280 TDRD6 c.819G>A p.S273S Substitution - coding silent Endometrium COSM1239478 MSH6 c.3205delG p.G1070fs*9 Deletion - Frameshift Oesophagus COSM6012530 SHPRH c.3277C>T p.P1093S Substitution - Missense Skin COSM96347 ASXL1 c.? p.G646fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM5944414 EP300 c.6567_6571delGCAAC p.M2189fs*19 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3528415 SMARCA4 c.1386C>T p.I462I Substitution - coding silent Skin COSM4000327 CBX4 c.871T>C p.S291P Substitution - Missense Soft_tissue COSM3361800 CHD9 c.7923G>A p.K2641K Substitution - coding silent Kidney COSM5986599 TBL1XR1 c.258_259insGCTACCCT p.V87fs*4 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5440983 NCOA2 c.3824G>A p.S1275N Substitution - Missense Oesophagus COSM961337 INOC1 c.4478A>G p.Q1493R Substitution - Missense Endometrium COSM3479285 TDRD5 c.880A>G p.T294A Substitution - Missense Skin COSM940090 KMT2D c.1703A>G p.E568G Substitution - Missense Endometrium COSM2153377 SRCAP c.891G>A p.E297E Substitution - coding silent Central_nervous_system COSM5750324 ZMYND8 c.1279C>A p.P427T Substitution - Missense Stomach COSM119950 PHC1 c.959C>T p.T320I Substitution - Missense Ovary COSM4170636 ARID1A c.4834_4835delAA p.K1612fs*35 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5711276 SMARCA2 c.1607A>G p.Y536C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1637080 RSF1 c.3005A>T p.K1002I Substitution - Missense Bone COSM4672111 CHD9 c.2890C>T p.R964* Substitution - Nonsense Large_intestine COSM4422841 ATF7IP c.1155_1156delTA p.S387fs*1 Deletion - Frameshift Kidney COSM1093624 TRRAP c.4664T>G p.F1555C Substitution - Missense Endometrium COSM4689709 HDAC7 c.485G>A p.R162H Substitution - Missense Large_intestine COSM4187879 SMARCD3 c.466A>T p.K156* Substitution - Nonsense Kidney COSM137642 SETD1A c.1160C>T p.A387V Substitution - Missense Skin COSM4849568 TP53BP1 c.2967G>A p.M989I Substitution - Missense Cervix COSM144494 DNMT3A c.2284_2285insCCATGG p.G762>AMG Complex - insertion inframe Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5596546 CTCF c.1312C>T p.H438Y Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1330417 ZCWPW1 c.631+1G>A p.? Unknown Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1214799 MEAF6 c.407G>T p.S136I Substitution - Missense Large_intestine COSM5752171 KMT2C c.13527_13545del19 p.K4509fs*2 Deletion - Frameshift Breast COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5967231 ASXL1 c.? p.C605Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM244130 DPF2 c.433G>A p.E145K Substitution - Missense Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4717504 PRDM2 c.4624A>G p.T1542A Substitution - Missense Large_intestine COSM133517 SMARCA4 c.3857_3858AG>CA p.E1286A Substitution - Missense Ovary COSM1733420 HCFC1 c.4676C>T p.S1559F Substitution - Missense Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1742336 KMT2D c.14332C>T p.R4778C Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5924746 NCOA6 c.5170C>T p.P1724S Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2151207 PRDM9 c.1007A>T p.H336L Substitution - Missense Central_nervous_system COSM4153436 TDRD6 c.3144C>A p.N1048K Substitution - Missense Ovary COSM5015351 CREBBP c.2863C>T p.Q955* Substitution - Nonsense Kidney COSM5363424 SETD1A c.1381C>T p.R461C Substitution - Missense Large_intestine COSM4607729 KDM4B c.1585C>A p.L529M Substitution - Missense Adrenal_gland COSM5909819 CHD6 c.5792C>T p.P1931L Substitution - Missense Skin COSM1610276 EZH1 c.390C>T p.C130C Substitution - coding silent Liver COSM1497093 MORF4L2 c.304A>G p.R102G Substitution - Missense Kidney COSM263775 SMCHD1 c.1379G>T p.R460I Substitution - Missense Large_intestine COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5015851 ARID1A c.1290delC p.P431fs*2 Deletion - Frameshift Kidney COSM5995134 PBRM1 c.4586G>A p.R1529H Substitution - Missense Prostate COSM5981952 ARID1A c.400_400delG p.A134fs*98 Deletion - Frameshift Stomach COSM3618459 BRD9 c.1367C>T p.S456F Substitution - Missense Skin COSM422552 HDAC6 c.3040G>T p.G1014W Substitution - Missense Urinary_tract COSM5510892 PHF12 c.1758G>A p.T586T Substitution - coding silent Biliary_tract COSM4448571 SMYD3 c.900-1G>A p.? Unknown Skin COSM24595 SMARCB1 c.157C>T p.R53* Substitution - Nonsense Central_nervous_system COSM1117735 HCFC1 c.3046G>A p.E1016K Substitution - Missense Endometrium COSM1364810 PHC1 c.2518delA p.M842fs*1 Deletion - Frameshift Large_intestine COSM4593941 L3MBTL2 c.697G>C p.A233P Substitution - Missense Upper_aerodigestive_tract COSM148078 CHD9 c.5406G>A p.Q1802Q Substitution - coding silent Large_intestine COSM5377262 TRIM33 c.2278A>G p.T760A Substitution - Missense Skin COSM943596 APOBEC1 c.108C>A p.A36A Substitution - coding silent Endometrium COSM1664529 TET2 c.4213G>C p.E1405Q Substitution - Missense Kidney COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM30430 ATF7IP c.294T>C p.N98N Substitution - coding silent Skin COSM28780 KDM6A c.3835C>T p.R1279* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41645 TET2 c.3157C>T p.Q1053* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41875 IDH2 c.419G>T p.R140L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM51483 ARID1A c.4624G>T p.E1542* Substitution - Nonsense Ovary COSM99733 KDM6A c.2502G>T p.E834D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM95830 DNMT3A c.480C>T p.S160S Substitution - coding silent Lung COSM87193 TET2 c.5950_5957delGTAACTAC p.V1984fs*18 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM88769 CREBBP c.3301_3302delCT p.L1101fs*26 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM125819 RERE c.2050G>A p.E684K Substitution - Missense Upper_aerodigestive_tract COSM145934 SIRT4 c.466C>T p.R156C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Soft_tissue COSM226648 TAF1L c.2662C>T p.R888C Substitution - Missense Skin COSM225883 KMT2C c.2968A>G p.S990G Substitution - Missense Soft_tissue COSM227594 RNF17 c.541G>A p.E181K Substitution - Missense Skin COSM254835 NCOR1 c.4465C>G p.Q1489E Substitution - Missense Urinary_tract COSM251145 SMEK2 c.961A>C p.T321P Substitution - Missense Liver COSM255132 MEN1 c.721_724delTGTG p.C241fs*39 Deletion - Frameshift Parathyroid COSM253765 KMT2D c.10969C>T p.Q3657* Substitution - Nonsense Urinary_tract COSM280817 EP400 c.3901G>A p.E1301K Substitution - Missense Large_intestine COSM282377 LBR c.1260G>T p.M420I Substitution - Missense Large_intestine COSM273327 TAF1L c.1907G>A p.R636H Substitution - Missense Large_intestine COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Large_intestine COSM308525 ASXL1 c.2869A>T p.T957S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM361469 SFMBT2 c.1492C>T p.P498S Substitution - Missense Lung COSM379334 WHSC1 c.3295G>A p.E1099K Substitution - Missense Biliary_tract COSM468452 KMT2D c.3243A>G p.E1081E Substitution - coding silent Kidney COSM979873 HDAC5 c.927C>T p.S309S Substitution - coding silent Endometrium COSM972507 CTCF c.1891G>T p.E631* Substitution - Nonsense Cervix COSM487921 SMARCA1 c.1084T>C p.F362L Substitution - Missense Kidney COSM2270964 TET2 c.2246_2252delAATAAAG p.Q752fs*59 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM916613 SUV39H2 c.587G>A p.R196Q Substitution - Missense Endometrium COSM685257 TAF3 c.1753G>T p.A585S Substitution - Missense Lung COSM1015577 IDH1 c.753C>T p.I251I Substitution - coding silent Endometrium COSM1021307 MSH6 c.3712A>G p.T1238A Substitution - Missense Endometrium COSM939508 ARID2 c.3482C>T p.A1161V Substitution - Missense Endometrium COSM749287 PHF20L1 c.430-1G>T p.? Unknown Lung COSM920069 SFMBT2 c.1172C>T p.A391V Substitution - Missense Endometrium COSM708007 ASXL3 c.2572A>G p.K858E Substitution - Missense Lung COSM734370 GABRG1 c.608C>T p.P203L Substitution - Missense Liver COSM724208 ADNP c.1709A>G p.N570S Substitution - Missense Lung COSM905712 KDM1A c.1501G>A p.E501K Substitution - Missense Endometrium COSM895023 PRDM2 c.4241C>T p.S1414L Substitution - Missense Endometrium COSM961506 MGA c.3021A>G p.K1007K Substitution - coding silent Endometrium COSM1041033 PHC3 c.2627G>A p.R876Q Substitution - Missense Endometrium COSM1061355 KDM3B c.3881G>A p.R1294Q Substitution - Missense Endometrium COSM1315840 ASXL1 c.2433_2433delT p.N811fs*7 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1087033 EZH2 c.2233G>A p.E745K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1093737 TRRAP c.11174C>T p.A3725V Substitution - Missense Endometrium COSM1242561 NCOA2 c.2867C>T p.P956L Substitution - Missense Kidney COSM1194909 ARID1B c.2812G>T p.A938S Substitution - Missense Lung COSM1162748 BRD9 c.928A>T p.M310L Substitution - Missense Pancreas COSM1266216 SMARCA2 c.666A>G p.Q222Q Substitution - coding silent Skin COSM1266224 SMARCA2 c.1131C>T p.T377T Substitution - coding silent Stomach COSM1187901 TRDMT1 c.644G>T p.S215I Substitution - Missense Liver COSM1188328 SUV420H1 c.706G>T p.E236* Substitution - Nonsense Lung COSM1290340 SMEK1 c.873T>G p.S291S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1407052 NCOA1 c.2588C>T p.S863F Substitution - Missense Large_intestine COSM1355794 MEN1 c.1546delC p.R516fs*43 Deletion - Frameshift Large_intestine COSM1607640 BAZ1A c.2361A>G p.K787K Substitution - coding silent Liver COSM1496041 NSD1 c.3032G>C p.S1011T Substitution - Missense Kidney COSM1611154 AP001011.3_ENST00000320876 c.2507G>A p.R836H Substitution - Missense Liver COSM1683082 TRDMT1 c.950A>G p.E317G Substitution - Missense Kidney COSM1686177 ARID2 c.2239C>T p.H747Y Substitution - Missense Skin COSM1659536 RTF1 c.798C>T p.I266I Substitution - coding silent Kidney COSM1721292 MTA1 c.1637_1638insC p.K549fs*3 Insertion - Frameshift Large_intestine COSM1665064 ZBTB33 c.708C>G p.N236K Substitution - Missense Kidney COSM1730934 PRDM16 c.1574G>T p.R525L Substitution - Missense Liver COSM1748469 DMAP1 c.638T>G p.L213R Substitution - Missense Urinary_tract COSM1732060 PBRM1 c.3977_3978insT p.E1327fs*1 Insertion - Frameshift Kidney COSM1746851 EP400 c.7748C>T p.S2583L Substitution - Missense Urinary_tract COSM1756615 KDM5C c.1539G>T p.W513C Substitution - Missense Urinary_tract COSM2157030 PHF12 c.2587A>G p.T863A Substitution - Missense Central_nervous_system COSM2264990 MPHOSPH8 c.793G>C p.E265Q Substitution - Missense Upper_aerodigestive_tract COSM2743697 JMJD6 c.1195C>T p.R399C Substitution - Missense Stomach COSM2802812 CBX8 c.162C>T p.L54L Substitution - coding silent Large_intestine COSM2859865 TRIM24 c.1492A>C p.M498L Substitution - Missense Upper_aerodigestive_tract COSM3259628 EZH2 c.1943G>A p.G648E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3309692 SMARCB1 c.208delA p.T72fs*13 Deletion - Frameshift Large_intestine COSM3379184 BRWD1 c.5427T>C p.N1809N Substitution - coding silent Pancreas COSM3443959 KMT2A c.4396C>T p.P1466S Substitution - Missense Skin COSM3545566 NCOA6 c.1001C>T p.S334F Substitution - Missense Skin COSM3548788 DIDO1 c.4024C>T p.L1342F Substitution - Missense Skin COSM3663069 HDAC9 c.1777G>A p.A593T Substitution - Missense Liver COSM3657700 KIAA2026_ENST00000399933 c.2656G>A p.D886N Substitution - Missense Skin COSM3650731 EYA1 c.614C>T p.S205F Substitution - Missense Skin COSM3775243 PBRM1 c.2966-1G>C p.? Unknown Urinary_tract COSM3781973 L3MBTL3 c.2036C>A p.P679Q Substitution - Missense Pancreas COSM3804870 EYA3 c.909+10G>T p.? Unknown Breast COSM3801418 TTF2 c.1827C>T p.L609L Substitution - coding silent Breast COSM3799744 DIDO1 c.4324G>C p.D1442H Substitution - Missense Urinary_tract COSM3815977 BAHD1 c.2234C>T p.S745F Substitution - Missense Breast COSM3800613 PHF16 c.1360G>A p.E454K Substitution - Missense Urinary_tract COSM3928139 SHPRH c.856C>T p.Q286* Substitution - Nonsense Central_nervous_system COSM3937717 SMCHD1 c.3355G>A p.E1119K Substitution - Missense Oesophagus COSM3829021 L3MBTL3 c.1417C>T p.H473Y Substitution - Missense Breast COSM3837126 BAZ2B c.4788A>C p.S1596S Substitution - coding silent Breast COSM3959099 SMCHD1 c.2741T>G p.F914C Substitution - Missense Lung COSM4085339 MBD5 c.541C>T p.L181L Substitution - coding silent Stomach COSM4107273 FMR1 c.409T>C p.L137L Substitution - coding silent Stomach COSM4092777 HDAC4 c.2726C>T p.A909V Substitution - Missense Stomach COSM4092781 HDAC4 c.1802G>A p.R601Q Substitution - Missense Stomach COSM4092791 ATAD2B_ENST00000238789 c.3041A>G p.K1014R Substitution - Missense Stomach COSM4123999 WHSC1 c.1872T>C p.T624T Substitution - coding silent Stomach COSM4139254 PRDM1 c.997G>A p.E333K Substitution - Missense Pancreas COSM4162018 KMT2C c.2315C>T p.S772L Substitution - Missense Thyroid COSM4160098 PRDM1 c.1545A>T p.K515N Substitution - Missense Thyroid COSM4169193 CBX3 c.206G>A p.C69Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4179520 JMJD1C c.2819T>A p.L940* Substitution - Nonsense Large_intestine COSM4381931 KMT2C c.943G>T p.G315C Substitution - Missense Skin COSM4383948 TET2 c.4473delG p.E1492fs*79 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4413397 BAZ2B c.5015A>G p.N1672S Substitution - Missense Genital_tract COSM4596567 AKAP1 c.1289C>A p.P430Q Substitution - Missense Upper_aerodigestive_tract COSM4441955 KMT2D c.10832T>C p.M3611T Substitution - Missense Large_intestine COSM4440552 SMARCA4 c.4776C>T p.S1592S Substitution - coding silent Thyroid COSM4494450 DNMT1 c.4286C>T p.P1429L Substitution - Missense Skin COSM4581856 NCOA3 c.1186A>C p.S396R Substitution - Missense Bone COSM4462952 CBX4 c.1269C>G p.P423P Substitution - coding silent Skin COSM4473603 PHF16 c.1861C>T p.P621S Substitution - Missense Skin COSM4694988 KDM5A c.4697G>T p.R1566I Substitution - Missense Large_intestine COSM4647262 KMT2A c.4095A>G p.P1365P Substitution - coding silent Large_intestine COSM4611655 HDAC2 c.33delA p.V12fs*20 Deletion - Frameshift Large_intestine COSM4608017 MYST3 c.5761G>T p.A1921S Substitution - Missense Adrenal_gland COSM4611940 DIDO1 c.1712_1713delCT p.S571fs*4 Deletion - Frameshift Large_intestine COSM4895133 ACTL6B c.685G>A p.G229S Substitution - Missense Skin COSM4958732 SRCAP c.6708G>A p.K2236K Substitution - coding silent Liver COSM4957872 TRIM33 c.1417T>G p.L473V Substitution - Missense Liver COSM5028854 RBBP7 c.1012G>A p.D338N Substitution - Missense Breast COSM5017033 ATAT1 c.871C>G p.L291V Substitution - Missense Kidney COSM5013979 SP100 c.782G>C p.G261A Substitution - Missense Kidney COSM5063884 TAF1L c.5441A>G p.Q1814R Substitution - Missense Stomach COSM5409838 EYA1 c.952G>A p.D318N Substitution - Missense Skin COSM5398618 MECOM c.767C>T p.S256L Substitution - Missense Skin COSM5363804 RAI1 c.5188_5190delGAG p.E1731delE Deletion - In frame Large_intestine COSM5361188 KDM4D c.1029A>G p.A343A Substitution - coding silent Large_intestine COSM5513314 HDAC5 c.3250G>A p.E1084K Substitution - Missense Biliary_tract COSM5447585 BRPF1 c.318C>T p.R106R Substitution - coding silent Large_intestine COSM5758052 LMNA c.690C>T p.D230D Substitution - coding silent Bone COSM5771093 HDAC9 c.3048G>T p.M1016I Substitution - Missense Breast COSM5653236 ATF2 c.499G>T p.A167S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5732519 JMJD1C c.6210delT p.F2070fs*6 Deletion - Frameshift Pancreas COSM5609087 HNF1A c.1267G>A p.G423S Substitution - Missense Skin COSM5609443 MSH6 c.3672G>A p.G1224G Substitution - coding silent Skin COSM5610827 TET2 c.1631G>A p.R544Q Substitution - Missense Skin COSM5685699 MECOM c.1156A>G p.S386G Substitution - Missense Soft_tissue COSM5763236 ZMYND11 c.1005A>G p.A335A Substitution - coding silent Large_intestine COSM5563440 KMT2C c.6739C>T p.Q2247* Substitution - Nonsense Prostate COSM5779120 BRWD3 c.1057G>A p.E353K Substitution - Missense Breast COSM5883647 PRMT2 c.247C>T p.H83Y Substitution - Missense Skin COSM5944208 DNMT3A c.2296_2297delAA p.K766fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5943039 KMT2C c.2818_2819insT p.M940fs*10 Insertion - Frameshift Skin COSM5961401 CHD2 c.2668A>G p.N890D Substitution - Missense Adrenal_gland COSM5961798 HDAC9 c.1949T>C p.V650A Substitution - Missense Adrenal_gland COSM5986294 NSD1 c.1085G>A p.R362Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5989925 TET2 c.4663G>T p.E1555* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5999090 TAF3 c.61C>G p.L21V Substitution - Missense Prostate COSM6007256 PHF3 c.3688G>A p.G1230S Substitution - Missense Prostate COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Breast COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43409 TET2 c.? p.?fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM5574304 ASXL1 c.? p.E727* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41709 TET2 c.4317_4318insA p.R1440fs*38 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5945712 ATRX c.? p.R1426* Substitution - Nonsense Central_nervous_system COSM5000712 ARID4A c.2335A>G p.T779A Substitution - Missense Pancreas COSM2038989 MTA2 c.822G>C p.M274I Substitution - Missense Soft_tissue COSM4832774 SRCAP c.7462C>G p.P2488A Substitution - Missense Cervix COSM312873 MINA c.535delC p.H179fs*48 Deletion - Frameshift Lung COSM3557680 SMARCA1 c.1819C>T p.R607* Substitution - Nonsense Skin COSM1375554 CHD2 c.4381_4383delGAT p.D1463delD Deletion - In frame Large_intestine COSM3782703 HNF1A c.1383C>T p.P461P Substitution - coding silent Prostate COSM4751220 PRMT5 c.450+2T>C p.? Unknown Stomach COSM4766113 TET2 c.3088C>T p.Q1030* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3637020 HDAC9 c.1258C>T p.P420S Substitution - Missense Skin COSM122851 EP300 c.4195G>A p.D1399N Substitution - Missense Cervix COSM3946022 SMARCA5 c.1496G>T p.G499V Substitution - Missense Lung COSM5775127 SMARCA1 c.103C>T p.Q35* Substitution - Nonsense Breast COSM5412836 KDM5C c.1359C>T p.F453F Substitution - coding silent Skin COSM5974401 TCF20 c.5613G>A p.R1871R Substitution - coding silent Upper_aerodigestive_tract COSM4010584 BRDT c.80G>A p.R27Q Substitution - Missense Stomach COSM1488409 KMT2C c.967A>G p.I323V Substitution - Missense Soft_tissue COSM487372 TAF1L c.3145C>T p.R1049C Substitution - Missense Large_intestine COSM1390237 CARM1 c.873C>T p.D291D Substitution - coding silent Large_intestine COSM4420365 ATRX c.3710C>G p.S1237* Substitution - Nonsense Central_nervous_system COSM5020679 HNF1A c.293C>T p.A98V Substitution - Missense Soft_tissue COSM5776793 TDRD6 c.2385A>G p.I795M Substitution - Missense Breast COSM46438 HNF1A c.476G>A p.R159Q Substitution - Missense Liver COSM918681 ERCC6 c.405G>A p.S135S Substitution - coding silent Endometrium COSM1606396 BAZ2A_ENST00000379441 c.3184A>G p.I1062V Substitution - Missense Liver COSM1100891 CHD7 c.7485G>T p.R2495S Substitution - Missense Endometrium COSM1025783 DNMT3B c.285G>A p.R95R Substitution - coding silent Endometrium COSM4590120 KDM4B c.2128A>G p.K710E Substitution - Missense Upper_aerodigestive_tract COSM3919752 NSD1 c.7057C>T p.P2353S Substitution - Missense Skin COSM5945610 PHF6 c.729G>A p.M243I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM4488809 HDGF c.290C>T p.A97V Substitution - Missense Skin COSM1179107 KMT2C c.851G>A p.R284Q Substitution - Missense Soft_tissue COSM5744414 CHD6 c.723A>T p.Q241H Substitution - Missense Small_intestine COSM5009098 TRRAP c.8322C>A p.S2774S Substitution - coding silent Large_intestine COSM5886416 NIPBL c.3059G>A p.R1020K Substitution - Missense Skin COSM280816 EP400 c.3560G>A p.R1187H Substitution - Missense Stomach COSM1739998 RNF17 c.1931T>C p.V644A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3922828 JHDM1D c.852C>T p.D284D Substitution - coding silent Skin COSM1315343 HCFC1 c.1164C>T p.L388L Substitution - coding silent Urinary_tract COSM1233564 ZMYND8 c.3545G>A p.R1182Q Substitution - Missense Large_intestine COSM2819138 PRDM15 c.1382A>G p.K461R Substitution - Missense Large_intestine COSM1177438 ATAD2 c.333A>G p.R111R Substitution - coding silent Endometrium COSM5040730 PHIP c.4264T>G p.L1422V Substitution - Missense Liver COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3637550 STK31 c.1952G>A p.S651N Substitution - Missense Skin COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43417 TET2 c.2746C>T p.Q916* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM1451625 ACTB c.903C>T p.G301G Substitution - coding silent Large_intestine COSM1216851 NCOA2 c.1909G>T p.G637W Substitution - Missense Stomach COSM2243460 RERE c.1653G>A p.P551P Substitution - coding silent Large_intestine COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1708081 TP53BP1 c.989C>T p.S330F Substitution - Missense Skin COSM3765996 NCOR1 c.4218A>C p.L1406F Substitution - Missense Liver COSM4981677 L3MBTL2 c.1823-1G>A p.? Unknown Oesophagus COSM1682285 EP300 c.2282A>G p.Q761R Substitution - Missense Large_intestine COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM130409 TET2 c.2116C>T p.Q706* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5120308 UTY c.3053C>A p.S1018Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM458504 PHRF1 c.1590C>G p.L530L Substitution - coding silent Cervix COSM88790 EP300 c.4408delA p.M1470fs*26 Deletion - Frameshift Large_intestine COSM41730 TET2 c.3953A>G p.E1318G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3823626 ZCWPW2 c.956A>C p.N319T Substitution - Missense Breast COSM1159250 ARID2 c.1716-1G>A p.? Unknown Large_intestine COSM51455 ARID1A c.2718_2719insCT p.S907fs*13 Insertion - Frameshift Ovary COSM30491 KMT2D c.14778G>A p.M4926I Substitution - Missense Kidney COSM4849824 KMT2D c.3657G>A p.Q1219Q Substitution - coding silent Cervix COSM908627 ZMYM6 c.784G>A p.A262T Substitution - Missense Endometrium COSM5359403 SMARCA2 c.136C>T p.P46S Substitution - Missense Large_intestine COSM1184212 ATRX c.6076A>C p.I2026L Substitution - Missense Large_intestine COSM4591233 NCOR1 c.534G>C p.K178N Substitution - Missense Skin COSM5457234 JARID2 c.1509G>T p.T503T Substitution - coding silent Large_intestine COSM3810832 HCFC2 c.163+1G>A p.? Unknown Breast COSM1261519 PCGF6 c.814T>C p.L272L Substitution - coding silent Stomach COSM446615 SETD2 c.2992T>C p.C998R Substitution - Missense Breast COSM3774230 BAG6 c.1855T>C p.S619P Substitution - Missense Soft_tissue COSM5400476 PHF17 c.1264C>G p.Q422E Substitution - Missense Skin COSM1581246 KMT2C c.6965T>C p.V2322A Substitution - Missense Large_intestine COSM1440426 L3MBTL3 c.1429delA p.M479fs*1 Deletion - Frameshift Bone COSM4535728 PBRM1 c.2226G>A p.E742E Substitution - coding silent Skin COSM3910746 SMYD1 c.454G>A p.D152N Substitution - Missense Skin COSM4672068 CHD6 c.5619C>T p.N1873N Substitution - coding silent Large_intestine COSM896434 GATAD2B c.944C>T p.A315V Substitution - Missense Endometrium COSM3528413 SMARCA4 c.1166C>T p.P389L Substitution - Missense Skin COSM4803661 IDH2 c.467A>G p.N156S Substitution - Missense Liver COSM4888189 ARID2 c.5397G>T p.V1799V Substitution - coding silent Upper_aerodigestive_tract COSM5417986 ZMYM3 c.2686-13_2686-2delTTCGTGCCTCCA p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1330198 MLL5 c.2938G>C p.G980R Substitution - Missense Ovary COSM5705856 BAHD1 c.914A>T p.E305V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4459116 PHF21B c.1112C>T p.P371L Substitution - Missense Oesophagus COSM3637541 STK31 c.1477G>A p.E493K Substitution - Missense Skin COSM1007243 EPC2 c.218T>G p.V73G Substitution - Missense Endometrium COSM3989393 KDM6B c.2150C>T p.A717V Substitution - Missense Kidney COSM3732000 TDRD5 c.2858C>T p.A953V Substitution - Missense Stomach COSM1108530 KIAA1045 c.317G>A p.R106H Substitution - Missense Endometrium COSM205746 FMR1 c.1816C>T p.R606C Substitution - Missense Breast COSM4962740 ZMYM4 c.4604C>A p.A1535D Substitution - Missense Pancreas COSM689975 KAT5 c.956G>T p.R319L Substitution - Missense Lung COSM4139019 PHF2 c.763G>A p.A255T Substitution - Missense Kidney COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5346991 ARID1A c.6731T>G p.V2244G Substitution - Missense Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3091589 SMARCA2 c.243T>C p.H81H Substitution - coding silent Large_intestine COSM123323 GATAD2B c.1757C>T p.S586L Substitution - Missense Upper_aerodigestive_tract COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5745722 ASH1L c.3776A>G p.Y1259C Substitution - Missense Pancreas COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM253062 PHF1 c.1466delC p.H491fs*3 Deletion - Frameshift Ovary COSM5014667 ACTB c.1033A>T p.I345F Substitution - Missense Kidney COSM5708825 BAP1 c.1251-1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM907718 ARID1A c.3949G>T p.G1317W Substitution - Missense Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM949287 YY1 c.207_209delCCA p.H80delH Deletion - In frame Endometrium COSM5599929 MGA c.4643C>T p.S1548F Substitution - Missense Skin COSM679192 ACTA1 c.933C>T p.I311I Substitution - coding silent Lung COSM5879085 EZH2 c.1988A>G p.Y663C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5738224 KMT2C c.11572G>A p.G3858S Substitution - Missense Small_intestine COSM3482144 RBBP5 c.798C>T p.I266I Substitution - coding silent Skin COSM948236 TDRD3 c.1393G>A p.A465T Substitution - Missense Endometrium COSM5013370 SMARCA4 c.3581G>T p.G1194V Substitution - Missense Kidney COSM3743178 TRIM28 c.1049C>G p.S350C Substitution - Missense Liver COSM4760544 KMT2A c.6447T>G p.S2149R Substitution - Missense Stomach COSM109435 L3MBTL4 c.1124G>A p.G375D Substitution - Missense Skin COSM5693881 TAF1L c.3420G>T p.W1140C Substitution - Missense Soft_tissue COSM1333447 PRDM2 c.834A>T p.E278D Substitution - Missense Large_intestine COSM1317975 CHD4 c.2924G>A p.R975H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4889565 CHD8 c.5933C>G p.S1978* Substitution - Nonsense Upper_aerodigestive_tract COSM1107187 EHMT1 c.3283G>A p.A1095T Substitution - Missense Endometrium COSM226556 PRDM9 c.2023T>C p.W675R Substitution - Missense Skin COSM4073751 DNMT1 c.2483T>C p.I828T Substitution - Missense Stomach COSM220498 CREBBP c.4463C>G p.P1488R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1698023 EYA4 c.1313C>T p.S438F Substitution - Missense Skin COSM369275 CHD9 c.2468A>T p.E823V Substitution - Missense Lung COSM1093563 TRRAP c.1356C>T p.F452F Substitution - coding silent Large_intestine COSM4557379 DNMT3B c.689G>A p.W230* Substitution - Nonsense Skin COSM364981 PRDM11 c.42G>T p.V14V Substitution - coding silent Lung COSM4615045 BRD3 c.719delA p.K240fs*3 Deletion - Frameshift Large_intestine COSM3739784 BAZ2A_ENST00000379441 c.3298T>C p.F1100L Substitution - Missense Liver COSM3555536 BRD1 c.2362C>T p.L788F Substitution - Missense Skin COSM125595 PRMT5 c.496G>A p.D166N Substitution - Missense Upper_aerodigestive_tract COSM5810481 SIRT1 c.907A>T p.R303* Substitution - Nonsense Liver COSM5944866 PHF6 c.585+4_585+5insAGTAA p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1681611 DNMT3B c.1753G>A p.A585T Substitution - Missense Ovary COSM1155718 ASXL1 c.3319C>T p.L1107F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5642889 TRDMT1 c.469C>T p.P157S Substitution - Missense Oesophagus COSM5680537 BRD7 c.794G>C p.S265T Substitution - Missense Soft_tissue COSM1644417 ATRX c.3608C>T p.S1203L Substitution - Missense Salivary_gland COSM1262047 PHF20 c.146G>T p.R49L Substitution - Missense Stomach COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM673895 NCOA3 c.1112+7A>T p.? Unknown Endometrium COSM1025793 DNMT3B c.895C>T p.R299* Substitution - Nonsense Large_intestine COSM1619373 LMNB1 c.1584G>A p.K528K Substitution - coding silent Liver COSM4939599 ARID1A c.4994-2A>T p.? Unknown Liver COSM1307616 DIDO1 c.901G>A p.E301K Substitution - Missense Urinary_tract COSM87169 TET2 c.4249G>T p.V1417F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49149 EZH2 c.745G>A p.E249K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4766126 TET2 c.4240C>G p.Q1414E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4728273 SMARCA2 c.744_745insA p.Q249fs*10 Insertion - Frameshift Large_intestine COSM939497 ARID2 c.1169T>A p.L390* Substitution - Nonsense Endometrium COSM3237277 KDM3B c.895T>A p.S299T Substitution - Missense Upper_aerodigestive_tract COSM5692396 RNF134 c.274G>A p.E92K Substitution - Missense Soft_tissue COSM5815015 PHRF1 c.2455A>T p.K819* Substitution - Nonsense Liver COSM3473723 TDRKH c.178C>T p.P60S Substitution - Missense Skin COSM4361026 KMT2C c.1095C>G p.H365Q Substitution - Missense Breast COSM1298012 RAG2 c.259G>C p.E87Q Substitution - Missense Urinary_tract COSM5813588 TAF3 c.2667G>A p.W889* Substitution - Nonsense Liver COSM4383929 TET2 c.3954G>C p.E1318D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM133022 ARID1A c.4893_4894insC p.M1634fs*14 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1348068 ERCC6 c.3523G>A p.E1175K Substitution - Missense Large_intestine COSM5392064 CHD6 c.6002A>G p.K2001R Substitution - Missense Skin COSM4554358 TIF1 c.619G>A p.E207K Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM328978 KMT2C c.8390delA p.K2797fs*26 Deletion - Frameshift Breast COSM2758177 NCOA6 c.3242G>T p.S1081I Substitution - Missense Large_intestine COSM1719514 KMT2C c.5725C>G p.P1909A Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1646578 ZMYM2 c.591G>A p.V197V Substitution - coding silent Lung COSM5685831 ASH1L c.3295A>T p.S1099C Substitution - Missense Soft_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4060714 CREBBP c.2438C>T p.P813L Substitution - Missense Stomach COSM977576 SUZ12 c.2173G>T p.D725Y Substitution - Missense Endometrium COSM894185 TRIM33 c.1285C>T p.L429L Substitution - coding silent Endometrium COSM4091154 SETD2 c.3356A>T p.N1119I Substitution - Missense Oesophagus COSM1179669 KMT2C c.943G>A p.G315S Substitution - Missense Soft_tissue COSM96374 BAP1 c.284C>A p.A95D Substitution - Missense Pleura COSM1054442 WHSC1 c.2802G>A p.A934A Substitution - coding silent Upper_aerodigestive_tract COSM255889 KDM6A c.3725G>T p.G1242V Substitution - Missense Central_nervous_system COSM4536558 MBD6 c.2311G>A p.G771S Substitution - Missense Skin COSM3568256 BAZ2B c.3869G>A p.R1290Q Substitution - Missense Skin COSM3792918 ING4 c.528C>G p.T176T Substitution - coding silent Urinary_tract COSM5754451 SCMH1 c.742G>A p.A248T Substitution - Missense Large_intestine COSM1475606 PHRF1 c.1272G>A p.A424A Substitution - coding silent Breast COSM5669379 KMT2C c.8651G>C p.R2884P Substitution - Missense Soft_tissue COSM85980 ATRX c.521G>A p.C174Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1711945 BRD4 c.1081C>T p.L361F Substitution - Missense Skin COSM6002006 SETD1A c.1663G>A p.G555R Substitution - Missense Prostate COSM52810 PBRM1 c.1850T>A p.L617* Substitution - Nonsense Kidney COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1751914 PHF21B c.973G>T p.A325S Substitution - Missense Urinary_tract COSM6001941 CREBBP c.3299C>T p.A1100V Substitution - Missense Prostate COSM4820382 ORC1 c.1221G>A p.E407E Substitution - coding silent Cervix COSM1240653 WHSC1 c.1937A>G p.E646G Substitution - Missense Oesophagus COSM5971187 ARID4A c.9G>A p.A3A Substitution - coding silent Upper_aerodigestive_tract COSM1488483 STK31 c.2593C>T p.R865C Substitution - Missense Breast COSM144570 PHF6 c.903C>A p.Y301* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM86973 IKZF1 c.161-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM737596 NSD1 c.4642-1G>C p.? Unknown Lung COSM464992 RERE c.2958A>C p.P986P Substitution - coding silent Prostate COSM1030936 PRDM15 c.3642C>T p.H1214H Substitution - coding silent Endometrium COSM5723576 KDM3A c.436C>T p.L146F Substitution - Missense Skin COSM5093833 BAHCC1 c.1307C>A p.P436H Substitution - Missense Large_intestine COSM985848 BAHCC1 c.1610G>A p.G537E Substitution - Missense Endometrium COSM1330432 TRRAP c.8048A>G p.N2683S Substitution - Missense Stomach COSM1299386 ARID2 c.5203A>T p.N1735Y Substitution - Missense Urinary_tract COSM456032 KDM4C c.1186G>A p.D396N Substitution - Missense Liver COSM2152632 KDM6B c.3149C>T p.P1050L Substitution - Missense Central_nervous_system COSM4969812 UHRF1 c.2216_2217delGT p.C739fs*>67 Deletion - Frameshift Central_nervous_system COSM1634213 NIPBL c.2955A>G p.K985K Substitution - coding silent Liver COSM312111 KDM3B c.1361G>C p.R454P Substitution - Missense Lung COSM1254842 INOC1 c.959G>A p.R320Q Substitution - Missense Oesophagus COSM6000675 PHC1 c.2023G>T p.E675* Substitution - Nonsense Prostate COSM4167422 ATRX c.2767A>T p.K923* Substitution - Nonsense Central_nervous_system COSM4676235 DAXX c.92C>T p.A31V Substitution - Missense Large_intestine COSM3427771 ACTR8 c.558C>T p.I186I Substitution - coding silent Large_intestine COSM1463729 PHF2 c.1345G>A p.V449I Substitution - Missense Large_intestine COSM1469227 TAF1 c.4127G>A p.R1376Q Substitution - Missense Breast COSM3697623 JARID2 c.3053A>T p.K1018I Substitution - Missense Large_intestine COSM274154 BPTF c.5498G>A p.R1833Q Substitution - Missense Large_intestine COSM1617996 ATXN7 c.50C>T p.A17V Substitution - Missense Liver COSM5816691 RAG2 c.678T>A p.N226K Substitution - Missense Liver COSM1061373 KDM3B c.4864G>A p.A1622T Substitution - Missense Endometrium COSM5053522 KDM4A c.1198C>T p.R400* Substitution - Nonsense Stomach COSM3765997 NCOR1 c.4153-5T>A p.? Unknown Liver COSM37029 EZH2 c.1937A>C p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4061085 BRD7 c.403C>T p.P135S Substitution - Missense Stomach COSM5634385 JARID2 c.1147A>C p.N383H Substitution - Missense Oesophagus COSM752833 PHF19 c.60C>A p.L20L Substitution - coding silent Lung COSM4204459 SETD8 c.465A>G p.Q155Q Substitution - coding silent Liver COSM1724419 ZBTB38 c.507C>T p.S169S Substitution - coding silent Skin COSM5001092 HDAC2 c.578G>A p.R193H Substitution - Missense Pancreas COSM1392048 DOT1L c.2818G>A p.A940T Substitution - Missense Large_intestine COSM2813822 SMARCA4 c.4436G>A p.R1479H Substitution - Missense Large_intestine COSM5367497 RBBP7 c.923A>G p.K308R Substitution - Missense Large_intestine COSM3906845 TAF1L c.2520G>A p.R840R Substitution - coding silent Stomach COSM3839167 DNMT3A c.940T>G p.W314G Substitution - Missense Breast COSM1635194 KMT2C c.7089A>C p.G2363G Substitution - coding silent Liver COSM1105988 PRDM12 c.502C>T p.R168C Substitution - Missense Endometrium COSM2007600 KDM5A c.227G>A p.R76H Substitution - Missense Large_intestine COSM96481 CREBBP c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM88793 EP300 c.4617+1G>A p.? Unknown Liver COSM220312 CTCF c.773A>G p.K258R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM42002 TET2 c.694C>T p.Q232* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3517751 EZH1 c.1214C>T p.S405F Substitution - Missense Skin COSM5413119 ATRX c.5299G>A p.E1767K Substitution - Missense Skin COSM3091857 SMARCA2 c.3141G>A p.R1047R Substitution - coding silent Central_nervous_system COSM5370105 TDRD1 c.2481G>A p.R827R Substitution - coding silent Skin COSM3369238 PRDM2 c.174A>G p.P58P Substitution - coding silent Thyroid COSM3597960 SETD5_ENST00000402198 c.331G>A p.G111R Substitution - Missense Skin COSM4397573 EYA1 c.4G>A p.E2K Substitution - Missense Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4679239 DPF2 c.858G>A p.T286T Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5444017 ZBTB4 c.1881G>A p.E627E Substitution - coding silent Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4758450 KDM3A c.397T>G p.F133V Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM487375 TAF1L c.585G>C p.L195F Substitution - Missense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5481434 AP001011.3_ENST00000320876 c.4361C>A p.P1454H Substitution - Missense Large_intestine COSM3296146 MBD5 c.1645A>G p.S549G Substitution - Missense Upper_aerodigestive_tract COSM1700236 PRDM14 c.736T>G p.S246A Substitution - Missense Skin COSM4156352 TCF20 c.505C>G p.Q169E Substitution - Missense Thyroid COSM5140567 ZMYM1 c.1509_1510insA p.T506fs*9 Insertion - Frameshift Large_intestine COSM1122977 KDM5C c.248T>C p.L83P Substitution - Missense Endometrium COSM1159149 ARID1A c.2929_2932delCCAG p.A978fs*3 Deletion - Frameshift Pancreas COSM1265344 SETD5_ENST00000402198 c.1048A>C p.I350L Substitution - Missense Oesophagus COSM5915933 ERCC6 c.1805C>T p.S602F Substitution - Missense Skin COSM4488274 HDAC5 c.3297C>A p.A1099A Substitution - coding silent Skin COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5343618 ZMYND8 c.255G>A p.P85P Substitution - coding silent Large_intestine COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM52863 PBRM1 c.835delA p.I279fs*4 Deletion - Frameshift Lung COSM1969437 BTAF1 c.304A>C p.N102H Substitution - Missense Large_intestine COSM109685 BPTF c.3493C>T p.R1165* Substitution - Nonsense Skin COSM3650670 PRDM14 c.1116A>T p.K372N Substitution - Missense Skin COSM5372276 SIRT3 c.723C>T p.A241A Substitution - coding silent Skin COSM248026 TRRAP c.155T>C p.V52A Substitution - Missense Prostate COSM5758979 PRDM14 c.1557C>A p.C519* Substitution - Nonsense Bone COSM88110 JMJD1C c.125G>A p.R42Q Substitution - Missense Central_nervous_system COSM3065140 HDAC10 c.426C>T p.N142N Substitution - coding silent Large_intestine COSM1123261 PHF8 c.3070C>A p.L1024M Substitution - Missense Endometrium COSM3786511 MGA c.2061T>C p.S687S Substitution - coding silent Pancreas COSM1753968 PHF15 c.1505A>T p.Q502L Substitution - Missense Urinary_tract COSM3510234 CHD9 c.5959C>T p.L1987F Substitution - Missense Skin COSM5944203 DNMT3A c.2554delA p.M852fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1432775 LMNB1 c.1012A>G p.M338V Substitution - Missense Large_intestine COSM4101605 BRWD1 c.2174G>A p.R725H Substitution - Missense Stomach COSM5456651 KDM6B c.3667C>T p.R1223W Substitution - Missense Large_intestine COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM22570 MEN1 c.266T>G p.L89R Substitution - Missense Parathyroid COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43420 TET2 c.4546C>T p.R1516* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM87107 TET2 c.2604T>G p.F868L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM129428 SRCAP c.7195C>T p.L2399F Substitution - Missense Upper_aerodigestive_tract COSM125565 PRDM9 c.31C>A p.P11T Substitution - Missense Upper_aerodigestive_tract COSM158750 EED c.587T>A p.L196Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM176781 GTF3C4 c.399C>T p.F133F Substitution - coding silent Large_intestine COSM190403 BRD7 c.994C>T p.R332W Substitution - Missense Large_intestine COSM213759 KDM1A c.1045C>G p.L349V Substitution - Missense Breast COSM216208 KDM6A c.3940G>T p.G1314* Substitution - Nonsense Central_nervous_system COSM223687 BAZ1A c.710G>A p.G237E Substitution - Missense Skin COSM250044 ATRX c.6849+1G>T p.? Unknown Central_nervous_system COSM225822 PRDM16 c.2170G>T p.A724S Substitution - Missense Liver COSM247699 TAF1L c.4186C>T p.R1396C Substitution - Missense Large_intestine COSM247772 TDRD6 c.1472C>T p.A491V Substitution - Missense Prostate COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Prostate COSM249135 DNMT3A c.1628G>T p.G543V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM238669 ACTB c.778G>A p.A260T Substitution - Missense Large_intestine COSM252834 SMARCD3 c.1402C>T p.R468C Substitution - Missense Ovary COSM255117 MEN1 c.303_316del14 p.D102fs*10 Deletion - Frameshift Parathyroid COSM255886 CHD7 c.2739_2740delTG p.Y913fs*1 Deletion - Frameshift Central_nervous_system COSM258012 SIRT5 c.131G>A p.R44Q Substitution - Missense Large_intestine COSM258129 TAF1 c.3515G>A p.R1172Q Substitution - Missense Large_intestine COSM287292 GLYR1 c.1140_1141insG p.R381fs*15 Insertion - Frameshift Large_intestine COSM280385 DIDO1 c.3530T>G p.F1177C Substitution - Missense Large_intestine COSM280131 CREBBP c.270C>T p.S90S Substitution - coding silent Large_intestine COSM289208 EHMT2 c.845G>A p.R282H Substitution - Missense Large_intestine COSM384030 SETD2 c.5785G>A p.E1929K Substitution - Missense Lung COSM379334 WHSC1 c.3295G>A p.E1099K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM414452 ASH1L c.7509G>A p.V2503V Substitution - coding silent Urinary_tract COSM427093 TDRD1 c.1142T>C p.V381A Substitution - Missense Breast COSM428503 KMT2A c.11868C>G p.P3956P Substitution - coding silent Breast COSM435387 CHD9 c.8329A>G p.T2777A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM443840 CHD6 c.402G>T p.K134N Substitution - Missense Breast COSM1600465 PRMT6 c.823G>C p.D275H Substitution - Missense Liver COSM988374 SETBP1 c.684C>T p.S228S Substitution - coding silent Endometrium COSM709112 L3MBTL4 c.384G>A p.W128* Substitution - Nonsense Lung COSM907688 ARID1A c.1530G>A p.Q510Q Substitution - coding silent Endometrium COSM932711 EED c.673C>G p.L225V Substitution - Missense Endometrium COSM948228 TDRD3 c.805G>A p.A269T Substitution - Missense Endometrium COSM1040964 MECOM c.2232G>A p.R744R Substitution - coding silent Endometrium COSM1034564 EP300 c.4352A>G p.H1451R Substitution - Missense Endometrium COSM961982 TP53BP1 c.1663C>G p.L555V Substitution - Missense Endometrium COSM1045686 DHX30 c.588G>A p.E196E Substitution - coding silent Endometrium COSM1077969 RING1 c.501A>C p.T167T Substitution - coding silent Endometrium COSM1118571 RBBP7 c.367G>A p.E123K Substitution - Missense Endometrium COSM1116468 FMR1 c.1084A>G p.S362G Substitution - Missense Endometrium COSM1162748 BRD9 c.928A>T p.M310L Substitution - Missense Central_nervous_system COSM1181716 ACTL6A c.471G>T p.L157F Substitution - Missense Large_intestine COSM1221873 PRDM13 c.1563G>T p.E521D Substitution - Missense Large_intestine COSM1187869 EHMT1 c.1074G>T p.Q358H Substitution - Missense Lung COSM1315530 PHF16 c.1384G>T p.E462* Substitution - Nonsense Urinary_tract COSM1311549 L3MBTL3 c.617C>T p.S206L Substitution - Missense Urinary_tract COSM1283592 ATRX c.2968G>T p.E990* Substitution - Nonsense Autonomic_ganglia COSM1321887 KMT2A c.526C>A p.R176S Substitution - Missense Ovary COSM1449426 KMT2C c.6875delC p.P2292fs*13 Deletion - Frameshift Large_intestine COSM1363134 BAZ2A_ENST00000379441 c.3119G>A p.R1040Q Substitution - Missense Large_intestine COSM1361279 PRMT8 c.84delC p.S31fs*35 Deletion - Frameshift Large_intestine COSM1341430 ARID1A c.6415delC p.F2141fs*59 Deletion - Frameshift Large_intestine COSM1493700 CTCF c.86G>A p.R29Q Substitution - Missense Kidney COSM1472718 ASH1L c.3673C>T p.H1225Y Substitution - Missense Breast COSM1581865 TRRAP c.1436C>T p.A479V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1682744 BRWD3 c.2173G>T p.D725Y Substitution - Missense Large_intestine COSM1680364 CXXC1 c.1565G>A p.R522H Substitution - Missense Large_intestine COSM1674943 BRD3 c.276T>G p.N92K Substitution - Missense Large_intestine COSM1679604 NCOR1 c.1911A>C p.K637N Substitution - Missense Large_intestine COSM1716733 ATRX c.6812_6815delGAAA p.R2271fs*14 Deletion - Frameshift Central_nervous_system COSM1718926 GABRG1 c.812G>A p.G271E Substitution - Missense Skin COSM1703073 TDRD1 c.2105C>T p.P702L Substitution - Missense Skin COSM1724005 GLYATL1 c.516C>A p.L172L Substitution - coding silent Skin COSM1757126 NIPBL c.2134G>C p.E712Q Substitution - Missense Urinary_tract COSM1747321 ACTR6 c.172C>T p.L58F Substitution - Missense Urinary_tract COSM2151338 CLOCK c.12C>T p.T4T Substitution - coding silent Central_nervous_system COSM2153753 KMT2C c.12902C>A p.P4301H Substitution - Missense Central_nervous_system COSM2740178 RAI1 c.982G>A p.V328I Substitution - Missense Large_intestine COSM2762704 ADNP c.1925A>G p.H642R Substitution - Missense Prostate COSM2812089 SETBP1 c.2694C>T p.S898S Substitution - coding silent Skin COSM3358470 BAP1 c.222delT p.D74fs*4 Deletion - Frameshift Kidney COSM3378482 ASXL3 c.2647C>T p.R883W Substitution - Missense Pancreas COSM3369859 RERE c.239C>T p.P80L Substitution - Missense Thyroid COSM3578883 SP140 c.343T>C p.F115L Substitution - Missense Skin COSM3588191 ZBTB38 c.3488A>T p.H1163L Substitution - Missense Skin COSM3563670 BRWD3 c.4862C>T p.S1621F Substitution - Missense Skin COSM3522596 JMJD6 c.802C>T p.P268S Substitution - Missense Skin COSM3690942 SETD1A c.3350G>T p.R1117M Substitution - Missense Large_intestine COSM3726565 JMJD1C c.6609T>C p.L2203L Substitution - coding silent Lung COSM3748035 INO80C c.136T>A p.S46T Substitution - Missense Central_nervous_system COSM3752979 KDM2B c.1641C>T p.D547D Substitution - coding silent Large_intestine COSM3763348 MYST3 c.2982G>A p.P994P Substitution - coding silent Soft_tissue COSM3818091 CHD9 c.7911T>G p.S2637R Substitution - Missense Breast COSM3800234 TCF20 c.4947C>T p.I1649I Substitution - coding silent Urinary_tract COSM3911482 NCOA5 c.1242C>T p.L414L Substitution - coding silent Skin COSM3969586 CHD9 c.77C>T p.A26V Substitution - Missense Central_nervous_system COSM3982068 KMT2C c.14336G>T p.R4779L Substitution - Missense Oesophagus COSM4036875 RSF1 c.3398C>T p.P1133L Substitution - Missense Stomach COSM3985002 ZMYM1 c.2133A>G p.I711M Substitution - Missense Kidney COSM4079922 UHRF1 c.577G>C p.E193Q Substitution - Missense Stomach COSM4062132 PRMT7 c.1585C>T p.R529W Substitution - Missense Stomach COSM4145728 PHF21A c.975C>A p.S325R Substitution - Missense Thyroid COSM4144783 JMJD1C c.4329T>A p.G1443G Substitution - coding silent Thyroid COSM4165524 SIRT1 c.2135C>A p.A712D Substitution - Missense Kidney COSM4167467 ATRX c.2612C>G p.S871* Substitution - Nonsense Central_nervous_system COSM4390901 CHD1 c.1871C>G p.S624C Substitution - Missense Breast COSM4400253 PRDM9 c.1248C>T p.F416F Substitution - coding silent Skin COSM4407891 PWWP2B c.1054G>A p.E352K Substitution - Missense Pancreas COSM4598959 CBX3 c.411G>A p.M137I Substitution - Missense Upper_aerodigestive_tract COSM4442023 SMYD4 c.1514C>A p.A505E Substitution - Missense Large_intestine COSM4435318 SFMBT2 c.2416-3C>T p.? Unknown Oesophagus COSM4551712 METTL21D c.537G>A p.G179G Substitution - coding silent Skin COSM4565986 BRPF1 c.282_283GG>AA p.A95T Substitution - Missense Skin COSM4721049 RERE c.1973C>T p.T658M Substitution - Missense Large_intestine COSM4728265 SMARCA1 c.1611G>A p.P537P Substitution - coding silent Large_intestine COSM4728300 SMARCA5 c.2006T>C p.I669T Substitution - Missense Large_intestine COSM4742155 ZBTB4 c.2057_2058insG p.S687fs*104 Insertion - Frameshift Large_intestine COSM4742914 ZMYM3 c.3492delT p.F1164fs*9 Deletion - Frameshift Large_intestine COSM4732914 TDRD6 c.2582C>T p.S861F Substitution - Missense Large_intestine COSM4766069 DNMT3A c.2251T>G p.F751V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4645550 EYA4 c.1727C>T p.A576V Substitution - Missense Large_intestine COSM4770311 KMT2C c.7443-1delG p.? Unknown Adrenal_gland COSM4621979 KMT2A c.11780T>A p.V3927D Substitution - Missense Large_intestine COSM4755803 CLOCK c.1297T>C p.S433P Substitution - Missense Stomach COSM4759060 HELLS c.1234G>C p.E412Q Substitution - Missense Stomach COSM4759062 HELLS c.2234T>C p.L745S Substitution - Missense Stomach COSM4795262 BRD8 c.1480G>A p.G494R Substitution - Missense Liver COSM4909142 KMT2C c.1050G>A p.P350P Substitution - coding silent Large_intestine COSM4856141 NSD1 c.1273G>T p.V425F Substitution - Missense Cervix COSM4848955 TAF1 c.1946T>G p.M649R Substitution - Missense Cervix COSM4831189 SRCAP c.3586C>T p.R1196C Substitution - Missense Cervix COSM4839568 TDRD6 c.4741G>T p.D1581Y Substitution - Missense Cervix COSM4958170 ING5 c.471G>T p.K157N Substitution - Missense Liver COSM4962576 PHF12 c.1680G>A p.T560T Substitution - coding silent Pancreas COSM4999784 TAF1L c.4548_4549insCC p.L1517fs*23 Insertion - Frameshift Pancreas COSM5019785 NSD1 c.3705T>C p.N1235N Substitution - coding silent Soft_tissue COSM5019408 DNMT1 c.1584C>A p.I528I Substitution - coding silent Soft_tissue COSM5009121 KMT2C c.8477T>C p.V2826A Substitution - Missense Large_intestine COSM5045069 CREBBP c.4507T>A p.Y1503N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5048461 CHD2 c.3214C>G p.R1072G Substitution - Missense Oesophagus COSM5347032 ARID1A c.2302G>A p.G768S Substitution - Missense Endometrium COSM5351023 SETD5_ENST00000402198 c.2846C>T p.S949F Substitution - Missense Lung COSM5413490 TRRAP c.3938C>T p.T1313M Substitution - Missense Skin COSM5357635 HDGFL1 c.163C>T p.R55C Substitution - Missense Large_intestine COSM5499528 AP001011.3_ENST00000320876 c.4281+7C>T p.? Unknown Biliary_tract COSM5463299 BRPF1 c.1004A>G p.N335S Substitution - Missense Large_intestine COSM5469511 KMT2A c.10464C>T p.D3488D Substitution - coding silent Large_intestine COSM5443776 SMARCB1 c.36G>A p.Q12Q Substitution - coding silent Oesophagus COSM5638645 SETD1A c.5000T>C p.V1667A Substitution - Missense Oesophagus COSM5635808 CDYL c.311delA p.E104fs*19 Deletion - Frameshift Oesophagus COSM5753609 KMT2A c.11522G>A p.R3841Q Substitution - Missense Large_intestine COSM5722283 BAHD1 c.294G>A p.K98K Substitution - coding silent Skin COSM5679678 C20orf20 c.428-2A>C p.? Unknown Soft_tissue COSM5708594 TBL1XR1 c.799G>T p.G267C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5710768 TRRAP c.8583G>C p.E2861D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5818918 TDRD1 c.3042G>A p.G1014G Substitution - coding silent Liver COSM5813329 PRDM13 c.619A>G p.T207A Substitution - Missense Liver COSM5803840 BAZ2A c.2189A>G p.K730R Substitution - Missense Liver COSM5945428 ASXL1 c.3179T>A p.V1060D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5911361 HDAC1 c.52G>A p.D18N Substitution - Missense Skin COSM5900337 BPTF c.2830G>A p.E944K Substitution - Missense Skin COSM5911733 SP110 c.28G>A p.E10K Substitution - Missense Skin COSM5904747 ATXN7 c.974A>G p.N325S Substitution - Missense Skin COSM5924450 TRRAP c.7636G>A p.E2546K Substitution - Missense Skin COSM5892643 PRDM16 c.1450G>A p.G484S Substitution - Missense Skin COSM5972826 DOT1L c.1701G>A p.A567A Substitution - coding silent Upper_aerodigestive_tract COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Bone COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM51384 IDH1 c.? p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53140 TET2 c.? p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM42079 TET2 c.3970_3971delTC p.H1325fs*13 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52796 PBRM1 c.3127_3134delTACTTTAA p.Y1043fs*9 Deletion - Frameshift Kidney COSM97048 IDH2 c.? p.R140? Unknown Haematopoietic_and_lymphoid_tissue COSM256008 PHF6 c.1_1098del1098 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM4082478 TRIM28 c.1886G>A p.R629H Substitution - Missense Stomach COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM485217 STK31 c.668A>T p.E223V Substitution - Missense Kidney COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM1049751 TET2 c.1741C>T p.R581C Substitution - Missense Endometrium COSM3262499 KMT2C c.11983C>T p.R3995* Substitution - Nonsense Large_intestine COSM1644779 MORF4L1 c.817C>G p.L273V Substitution - Missense Salivary_gland COSM4099060 ZMYND8 c.2972A>G p.Q991R Substitution - Missense Stomach COSM436342 SUZ12 c.285G>C p.Q95H Substitution - Missense Breast COSM4293948 DIDO1 c.4924A>C p.T1642P Substitution - Missense Upper_aerodigestive_tract COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM314705 RBBP7 c.308-1G>T p.? Unknown Lung COSM5550924 KMT2D c.3750C>T p.C1250C Substitution - coding silent Prostate COSM6000869 ZMYM2 c.3454-6T>A p.? Unknown Prostate COSM4846723 CHD4 c.1393G>A p.D465N Substitution - Missense Cervix COSM4072250 SETBP1 c.3541T>G p.F1181V Substitution - Missense Stomach COSM1387271 KDM6B c.4301C>T p.T1434M Substitution - Missense Large_intestine COSM220496 CREBBP c.4307G>A p.S1436N Substitution - Missense Urinary_tract COSM1093554 TRRAP c.709C>A p.Q237K Substitution - Missense Endometrium COSM4467933 TP53BP1 c.1500C>T p.S500S Substitution - coding silent Skin COSM94800 KAT6B c.2861G>T p.R954I Substitution - Missense Prostate COSM5554036 SIRT3 c.574T>C p.F192L Substitution - Missense Prostate COSM5921218 RAI1 c.5144A>T p.K1715M Substitution - Missense Skin COSM680171 ARID1A c.4014C>T p.S1338S Substitution - coding silent Lung COSM909900 KDM4A c.2474G>A p.R825H Substitution - Missense Endometrium COSM435381 CHD9 c.1759A>G p.K587E Substitution - Missense Breast COSM3844034 HCFC1 c.3136A>C p.T1046P Substitution - Missense Breast COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Skin COSM415788 KDM2A c.3058C>T p.R1020W Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Biliary_tract COSM4530372 MLL5 c.1693G>A p.E565K Substitution - Missense Skin COSM121539 PHF12 c.2595C>T p.D865D Substitution - coding silent Upper_aerodigestive_tract COSM1324590 SETBP1 c.3988T>A p.S1330T Substitution - Missense Ovary COSM3545550 NCOA6 c.5783C>T p.S1928F Substitution - Missense Skin COSM1564666 MUM1 c.1156C>T p.R386C Substitution - Missense Large_intestine COSM3730023 HDAC5 c.2793_2794insC p.I932fs*24 Insertion - Frameshift Breast COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM443836 CHD6 c.3240G>A p.T1080T Substitution - coding silent Skin COSM97858 PRDM11 c.1460C>T p.S487L Substitution - Missense Upper_aerodigestive_tract COSM1602162 ARID1A c.6767C>G p.S2256* Substitution - Nonsense Liver COSM5919345 JHDM1D c.281-4C>T p.? Unknown Skin COSM4596684 KDM2B c.1696C>T p.P566S Substitution - Missense Upper_aerodigestive_tract COSM5607230 ZMYM4 c.2597C>T p.S866F Substitution - Missense Skin COSM5521476 ING4 c.326C>A p.A109D Substitution - Missense Prostate COSM3883718 TRRAP c.4079C>T p.P1360L Substitution - Missense Stomach COSM5684538 BAZ1A c.224G>T p.R75I Substitution - Missense Soft_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4387245 JMJD1C c.2203C>A p.H735N Substitution - Missense Lung COSM1602395 SCMH1 c.65C>A p.P22H Substitution - Missense Stomach COSM1694312 GABRG1 c.1184C>T p.S395F Substitution - Missense Skin COSM1008144 BAZ2B c.5783C>A p.S1928* Substitution - Nonsense Endometrium COSM3452247 KDM2A c.215T>A p.L72* Substitution - Nonsense Skin COSM5351694 KDM6A c.2938G>T p.D980Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4951017 SND1 c.1175C>A p.P392H Substitution - Missense Liver COSM4120724 BRPF1 c.326G>A p.R109H Substitution - Missense Stomach COSM1173236 TDRD6 c.1397C>T p.A466V Substitution - Missense Oesophagus COSM3912106 BRWD1 c.1877T>G p.V626G Substitution - Missense Skin COSM3948983 BAG6 c.2274G>T p.M758I Substitution - Missense Lung COSM167572 TAF1L c.3572G>A p.R1191Q Substitution - Missense Endometrium COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1411844 CHD6 c.2038C>T p.L680F Substitution - Missense Large_intestine COSM1630066 NCOR1 c.515C>T p.S172L Substitution - Missense Upper_aerodigestive_tract COSM4774828 ASXL1 c.3083C>T p.S1028L Substitution - Missense Breast COSM1642845 NCOA7 c.351+10A>G p.? Unknown Stomach COSM3451583 MEN1 c.702G>A p.M234I Substitution - Missense Skin COSM5778313 ATAD2 c.537-4A>T p.? Unknown Breast COSM1107429 PSIP1 c.149C>T p.T50I Substitution - Missense Endometrium COSM2218384 PYGO1 c.280G>A p.G94S Substitution - Missense Skin COSM3520813 SMARCD2 c.1106C>T p.A369V Substitution - Missense Skin COSM4399308 CHD7 c.6425C>T p.S2142F Substitution - Missense Skin COSM3508225 GTF3C1 c.2891C>T p.S964L Substitution - Missense Skin COSM4816612 NIPBL c.2042C>G p.T681R Substitution - Missense Cervix COSM4044317 CHD4 c.4018C>T p.R1340C Substitution - Missense Stomach COSM4535459 SMARCA1 c.2194G>A p.E732K Substitution - Missense Skin COSM4064337 RAI1 c.1970C>T p.A657V Substitution - Missense Large_intestine COSM3667774 MGA c.8989G>T p.G2997W Substitution - Missense Liver COSM1400338 BAZ2B c.3687-1G>A p.? Unknown Skin COSM3389741 ACTR5 c.41C>T p.A14V Substitution - Missense Pancreas COSM4618994 KDM5A c.2145T>C p.C715C Substitution - coding silent Large_intestine COSM5348658 PHF3 c.3781_3782insA p.I1261fs*19 Insertion - Frameshift Liver COSM312118 KDM4C c.1589G>C p.S530T Substitution - Missense Lung COSM3674693 BRPF3 c.3301C>A p.R1101R Substitution - coding silent Prostate COSM3637562 STK31 c.2488G>A p.E830K Substitution - Missense Skin COSM3600407 SETD7 c.928C>T p.H310Y Substitution - Missense Skin COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3097100 ATRX c.2598A>C p.K866N Substitution - Missense Large_intestine COSM3370398 SETD1A c.4382A>G p.N1461S Substitution - Missense Thyroid COSM5780602 KMT2A c.4909G>A p.E1637K Substitution - Missense Breast COSM4530382 ASXL3 c.814G>C p.V272L Substitution - Missense Skin COSM3458276 EP400 c.9154C>T p.Q3052* Substitution - Nonsense Skin COSM5991842 MYST3 c.4055delT p.L1352fs*1 Deletion - Frameshift Prostate COSM5788074 KDM6B c.4197C>G p.V1399V Substitution - coding silent Breast COSM2006631 KMT2D c.14735_14736insG p.L4913fs*16 Insertion - Frameshift Large_intestine COSM1683578 ATRX c.477_478insC p.R160fs*29 Insertion - Frameshift Large_intestine COSM5752456 PBRM1 c.680delC p.P227fs*2 Deletion - Frameshift Breast COSM5364056 CBX4 c.853G>T p.A285S Substitution - Missense Large_intestine COSM4689670 HDAC2 c.379C>T p.R127* Substitution - Nonsense Large_intestine COSM1194277 KMT2C c.13717A>G p.K4573E Substitution - Missense Lung COSM3526908 L3MBTL4 c.1547G>A p.R516Q Substitution - Missense Skin COSM5049100 PRDM9 c.32C>A p.P11Q Substitution - Missense Oesophagus COSM3735019 SMARCA4 c.2362C>T p.Q788* Substitution - Nonsense Ovary COSM3842760 EP300 c.1440G>A p.M480I Substitution - Missense Breast COSM3508979 SETD1A c.2021G>C p.G674A Substitution - Missense Skin COSM6009473 SETDB1 c.3289G>C p.D1097H Substitution - Missense Skin COSM5507386 NCOA6 c.649A>G p.M217V Substitution - Missense Biliary_tract COSM25627 KMT2A c.2880A>G p.I960M Substitution - Missense Lung COSM5880270 SMYD3 c.910C>T p.P304S Substitution - Missense Skin COSM5991599 PHF6 c.904_904delC p.H302fs*49 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM255001 KDM6A c.560T>G p.L187* Substitution - Nonsense Urinary_tract COSM2157801 PHF10 c.786_787insC p.A263fs*37 Insertion - Frameshift Central_nervous_system COSM1629853 GTF3C1 c.670A>G p.M224V Substitution - Missense Liver COSM4012798 PWWP2B c.1288G>A p.E430K Substitution - Missense Stomach COSM1698426 STK31 c.2188C>T p.L730F Substitution - Missense Skin COSM4985848 MSH6 c.2633T>C p.V878A Substitution - Missense Soft_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM321702 KMT2D c.7031C>A p.S2344* Substitution - Nonsense Lung COSM5897016 KMT2A c.11085T>A p.D3695E Substitution - Missense Skin COSM3190595 HDAC5 c.3068T>G p.L1023R Substitution - Missense Large_intestine COSM108500 TAF1L c.1306G>A p.D436N Substitution - Missense Skin COSM3515536 PHF12 c.784G>A p.D262N Substitution - Missense Skin COSM1316521 TAF1 c.5174A>C p.E1725A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3995493 HDAC9 c.2889C>T p.A963A Substitution - coding silent Kidney COSM5011390 PRDM9 c.976G>A p.E326K Substitution - Missense Kidney COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5403280 PRDM9 c.76G>A p.D26N Substitution - Missense Skin COSM22664 MEN1 c.981_982insAGC p.Y327_H328insS Insertion - In frame Parathyroid COSM5031024 KDM6A c.? p.G451V Substitution - Missense Central_nervous_system COSM4113321 MBD4 c.1245C>T p.S415S Substitution - coding silent Stomach COSM5992847 ZMYM6 c.2501T>C p.L834S Substitution - Missense Prostate COSM289077 HDAC9 c.1128G>A p.P376P Substitution - coding silent Large_intestine COSM4916668 MLL5 c.5250T>G p.F1750L Substitution - Missense Liver COSM1615450 ASXL1 c.1578C>T p.S526S Substitution - coding silent Liver COSM4603736 KMT2D c.13439_13441+11delCAGGTATGTGCTAC p.? Unknown Upper_aerodigestive_tract COSM5044547 NCOA1 c.549G>A p.W183* Substitution - Nonsense Kidney COSM1679187 CTCF c.1097T>G p.L366* Substitution - Nonsense Large_intestine COSM42013 TET2 c.5456T>G p.L1819* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM693662 KMT2D c.3311A>G p.Q1104R Substitution - Missense Lung COSM1625941 HDAC6 c.1155C>G p.G385G Substitution - coding silent Liver COSM427630 ERCC6 c.4238A>G p.Q1413R Substitution - Missense Soft_tissue COSM457719 KDM5C c.1377A>C p.K459N Substitution - Missense Breast COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2965347 KDM6A c.1752G>A p.T584T Substitution - coding silent Stomach COSM914367 ASXL1 c.? p.S989* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3450132 GLYATL1 c.319C>T p.R107C Substitution - Missense Skin COSM5655345 CHD6 c.5097G>T p.L1699L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5833225 NCOR1 c.4852delA p.I1618fs*8 Deletion - Frameshift Breast COSM5801916 BAZ2A_ENST00000379441 c.1652_1654delAAG p.E551delE Deletion - In frame Breast COSM1623615 PHF20L1 c.83+7delA p.? Unknown Liver COSM5944216 DNMT3A c.2137delC p.L713fs*66 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM52981 EZH2 c.2078A>C p.N693T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3357610 PCGF1 c.207C>T p.Y69Y Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5906541 TAF1L c.2777C>T p.S926F Substitution - Missense Skin COSM1197054 CHD2 c.1823G>A p.S608N Substitution - Missense Lung COSM99742 DNMT3A c.2191_2193delTTC p.F731del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM241569 SETBP1 c.1589G>A p.R530Q Substitution - Missense Large_intestine COSM1713599 EYA2 c.941A>G p.N314S Substitution - Missense Skin COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4163936 KIAA2026_ENST00000399933 c.6182C>G p.P2061R Substitution - Missense Thyroid COSM4840356 TBL1XR1 c.1409A>C p.N470T Substitution - Missense Cervix COSM3365322 SETD5_ENST00000402198 c.3299G>T p.G1100V Substitution - Missense Kidney COSM5021858 CREBBP c.2129T>C p.L710P Substitution - Missense Bone COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM753643 TAF1L c.4056G>T p.V1352V Substitution - coding silent Lung COSM947868 SETDB2 c.666T>A p.F222L Substitution - Missense Endometrium COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1221891 PRDM5 c.695G>A p.R232Q Substitution - Missense Large_intestine COSM3424249 BRD1 c.808G>A p.D270N Substitution - Missense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1295175 ASH1L c.6020G>A p.R2007Q Substitution - Missense Urinary_tract COSM5026922 CHD7 c.8356G>A p.G2786R Substitution - Missense Breast COSM53301 SMARCB1 c.346_346delC p.T118fs*25 Deletion - Frameshift Soft_tissue COSM1458105 EYA1 c.936T>A p.N312K Substitution - Missense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3349896 PHF1 c.575G>A p.G192D Substitution - Missense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4822108 ASH1L c.6539G>A p.R2180K Substitution - Missense Cervix COSM987419 AP001011.3_ENST00000320876 c.4508_4509insA p.N1504fs*8 Insertion - Frameshift Endometrium COSM4839832 SRCAP c.4390A>C p.T1464P Substitution - Missense Cervix COSM4473945 L3MBTL3 c.1884C>T p.I628I Substitution - coding silent Skin COSM3973944 ATRX c.665G>A p.W222* Substitution - Nonsense Central_nervous_system COSM296454 BAHD1 c.1290delC p.P431fs*16 Deletion - Frameshift Large_intestine COSM1031768 PRMT2 c.1287C>T p.F429F Substitution - coding silent Endometrium COSM5945051 TET2 c.3954+5G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4886634 PHF20 c.71G>T p.R24L Substitution - Missense Upper_aerodigestive_tract COSM717299 BAZ2B c.472G>T p.G158* Substitution - Nonsense Lung COSM1315703 ATRX c.3182C>G p.S1061C Substitution - Missense Urinary_tract COSM3708680 PHF8 c.1280T>C p.V427A Substitution - Missense Liver COSM1583140 DNMT3A c.1539G>A p.M513I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3817654 GTF3C1 c.2018G>A p.R673Q Substitution - Missense Breast COSM971425 CHD9 c.4441C>T p.R1481W Substitution - Missense Endometrium COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5355154 BAP1 c.1742G>A p.G581D Substitution - Missense Large_intestine COSM1748621 RERE c.4195G>A p.E1399K Substitution - Missense Urinary_tract COSM5261949 TET2 c.1959delC p.Q654fs*46 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5441312 SUV420H2 c.1215C>A p.D405E Substitution - Missense Oesophagus COSM1425738 SETD5_ENST00000402198 c.945G>T p.G315G Substitution - coding silent Large_intestine COSM3509554 CREBBP c.4432G>A p.E1478K Substitution - Missense Skin COSM1677449 SETD8 c.524C>T p.T175M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM452668 KMT2C c.13729_13730delCC p.P4577fs*4 Deletion - Frameshift Breast COSM3554899 L3MBTL2 c.1307C>T p.A436V Substitution - Missense Skin COSM4648988 PHF1 c.749G>A p.R250H Substitution - Missense Large_intestine COSM3514770 RAI1 c.3912C>T p.L1304L Substitution - coding silent Skin COSM983321 BPTF c.3645C>T p.I1215I Substitution - coding silent Endometrium COSM2720003 CHD7 c.1703C>T p.P568L Substitution - Missense Cervix COSM5655920 SMARCA1 c.1922G>C p.R641T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3928574 PHF3 c.4802A>G p.Q1601R Substitution - Missense Central_nervous_system COSM1620730 PRDM1 c.1435delG p.S480fs*32 Deletion - Frameshift Liver COSM1046989 BAP1 c.1809C>T p.V603V Substitution - coding silent Large_intestine COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM5963776 PRDM16 c.3563C>T p.P1188L Substitution - Missense Breast COSM3411833 KMT2C c.2891G>T p.G964V Substitution - Missense Central_nervous_system COSM211631 TET2 c.5597_5608del12 p.T1867_S1870del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM4850274 DIDO1 c.4996G>A p.G1666S Substitution - Missense Cervix COSM3492900 RERE c.3817C>T p.P1273S Substitution - Missense Skin COSM4059635 GTF3C1 c.6120C>A p.G2040G Substitution - coding silent Stomach COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Soft_tissue COSM5785766 ACTL6B c.1096T>G p.S366A Substitution - Missense Breast COSM4910643 DPF2 c.681C>G p.H227Q Substitution - Missense Liver COSM217004 HNF1A c.339_342delGCGT p.R114fs*40 Deletion - Frameshift Liver COSM1738286 HDAC9 c.1757G>A p.R586H Substitution - Missense Ovary COSM255213 MEN1 c.1621A>G p.T541A Substitution - Missense Soft_tissue COSM3934146 HDGF c.267C>G p.I89M Substitution - Missense Oesophagus COSM41877 IDH2 c.418C>T p.R140W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1718171 BRPF1 c.1971C>T p.V657V Substitution - coding silent Skin COSM196959 BRWD3 c.3976C>T p.R1326* Substitution - Nonsense Endometrium COSM3842844 PHF21B c.736G>T p.A246S Substitution - Missense Breast COSM452728 KMT2C c.2379G>A p.S793S Substitution - coding silent Large_intestine COSM4532193 L3MBTL2 c.1863G>A p.K621K Substitution - coding silent Skin COSM298006 KMT2D c.10011G>A p.Q3337Q Substitution - coding silent Large_intestine COSM1125900 BRWD3 c.48C>T p.I16I Substitution - coding silent Endometrium COSM1583124 DNMT3A c.2477A>G p.K826R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87002 DNMT3A c.1627G>T p.G543C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5790343 BRPF3 c.1985T>G p.V662G Substitution - Missense Breast COSM245602 MBD1 c.392+1G>A p.? Unknown Prostate COSM4431330 PRMT7 c.1329C>T p.F443F Substitution - coding silent Oesophagus COSM941762 BAZ2A_ENST00000379441 c.2518C>T p.R840* Substitution - Nonsense Endometrium COSM5658432 ZBTB38 c.3046G>A p.A1016T Substitution - Missense Soft_tissue COSM3995462 KMT2C c.5051A>C p.K1684T Substitution - Missense Kidney COSM1685924 BAP1 c.455_456delTC p.L152fs*2 Deletion - Frameshift Skin COSM2723765 ZBTB33 c.1284G>A p.S428S Substitution - coding silent Large_intestine COSM4831667 AP001011.3_ENST00000320876 c.4563C>G p.I1521M Substitution - Missense Cervix COSM452742 KMT2C c.1099C>T p.H367Y Substitution - Missense Breast COSM5600613 TAF1L c.1792G>A p.G598S Substitution - Missense Skin COSM981677 AKAP1 c.280G>A p.A94T Substitution - Missense Endometrium COSM382882 SETD2 c.3634-1G>A p.? Unknown Lung COSM4916638 EZH1 c.532G>C p.E178Q Substitution - Missense Liver COSM96433 EP300 c.5095delA p.N1700fs*9 Deletion - Frameshift Large_intestine COSM476077 BAZ2B c.4693C>G p.R1565G Substitution - Missense Kidney COSM1439941 HDAC2 c.1375delA p.T459fs*>30 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4385556 DNMT3A c.940_941insT p.W314fs*10 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1165788 MECP2 c.526C>T p.P176S Substitution - Missense Large_intestine COSM3954289 HNF1A c.373C>A p.Q125K Substitution - Missense Lung COSM4445417 BAZ1A c.1225-3C>T p.? Unknown Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4409922 NIPBL c.3301G>A p.E1101K Substitution - Missense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM723660 CHD6 c.6860G>T p.R2287L Substitution - Missense Lung COSM1664499 TCF20 c.5233A>C p.M1745L Substitution - Missense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4631111 BRPF3 c.2739C>T p.D913D Substitution - coding silent Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM219071 ASXL1 c.? p.W898* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4443331 DNMT1 c.686C>T p.T229M Substitution - Missense Thyroid COSM294028 KIAA1045 c.471C>T p.G157G Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3406599 ATRX c.5219C>G p.S1740* Substitution - Nonsense Central_nervous_system COSM5387671 SIRT7 c.326G>A p.G109E Substitution - Missense Skin COSM4778107 NCOA1 c.2702A>G p.Q901R Substitution - Missense Prostate COSM2261783 YY1 c.72C>T p.H24H Substitution - coding silent Kidney COSM3870947 KDM2B c.609C>T p.I203I Substitution - coding silent Skin COSM4450761 CHD2 c.826+1G>A p.? Unknown Skin COSM1238322 BRD9 c.650G>T p.R217M Substitution - Missense Oesophagus COSM87007 DNMT3A c.2711C>T p.P904L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5726079 GATAD2A c.148C>T p.L50F Substitution - Missense Skin COSM1242892 STK31 c.668delA p.K225fs*35 Deletion - Frameshift Oesophagus COSM5821320 STK31 c.2430A>T p.P810P Substitution - coding silent Liver COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM3740652 POGZ c.255T>C p.T85T Substitution - coding silent Liver COSM1622669 HDAC9 c.2600T>A p.L867H Substitution - Missense Liver COSM1739862 KMT2D c.15004G>C p.A5002P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1684278 SUV420H1 c.841delT p.F281fs*11 Deletion - Frameshift Skin COSM5825515 ATAD2B_ENST00000238789 c.1789T>C p.F597L Substitution - Missense Pancreas COSM4021550 PRDM2 c.2782G>A p.G928S Substitution - Missense Stomach COSM3861746 BAG6 c.1539G>C p.G513G Substitution - coding silent Stomach COSM3510226 CHD9 c.1227C>T p.L409L Substitution - coding silent Skin COSM186976 CBX6 c.1173C>T p.F391F Substitution - coding silent Cervix COSM2920065 CREBBP c.617C>T p.A206V Substitution - Missense Large_intestine COSM2166351 KAT5 c.522G>A p.Q174Q Substitution - coding silent Upper_aerodigestive_tract COSM133542 DHX30 c.572_573AG>CA p.E191A Substitution - Missense Ovary COSM3304676 KMT2C c.906T>A p.C302* Substitution - Nonsense Kidney COSM4411410 EPC1 c.2204T>A p.L735Q Substitution - Missense Kidney COSM3779771 GTF3C4 c.2080G>A p.E694K Substitution - Missense Urinary_tract COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Endometrium COSM3304185 KMT2C c.5514T>C p.P1838P Substitution - coding silent Large_intestine COSM52884 PBRM1 c.815delA p.D272fs*11 Deletion - Frameshift Kidney COSM121691 PYGO1 c.909G>A p.T303T Substitution - coding silent Upper_aerodigestive_tract COSM3901324 PRDM14 c.1237T>C p.Y413H Substitution - Missense Stomach COSM3362147 KAT2A c.1654G>T p.A552S Substitution - Missense Kidney COSM1602806 MTF2 c.728G>A p.R243K Substitution - Missense Liver COSM251399 ARID1A c.2632C>T p.Q878* Substitution - Nonsense Urinary_tract COSM1334666 ASH1L c.2134delA p.R712fs*23 Deletion - Frameshift Large_intestine COSM120016 PRDM7 c.172G>T p.A58S Substitution - Missense Ovary COSM35337 ASXL1 c.1830C>T p.G610G Substitution - coding silent Central_nervous_system COSM37030 EZH2 c.1936T>C p.Y646H Substitution - Missense Bone COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43420 TET2 c.4546C>T p.R1516* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM43483 TET2 c.3811_3812insT p.C1271fs*29 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51441 ARID1A c.5161C>T p.R1721* Substitution - Nonsense Endometrium COSM85839 MEN1 c.959C>G p.P320R Substitution - Missense Pancreas COSM77755 GABRG1 c.1160C>T p.T387I Substitution - Missense Ovary COSM96442 EP300 c.4401_4402insA p.M1470fs*3 Insertion - Frameshift Large_intestine COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Soft_tissue COSM158738 DAXX c.1111C>T p.R371W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM195711 BAZ1B c.1283T>C p.L428P Substitution - Missense Large_intestine COSM218961 NCOA2 c.1793G>T p.G598V Substitution - Missense Pancreas COSM234026 PRDM1 c.183+4A>G p.? Unknown Skin COSM242295 YY1 c.367G>A p.A123T Substitution - Missense Prostate COSM291692 L3MBTL3 c.2136G>T p.E712D Substitution - Missense Large_intestine COSM288806 CHD9 c.8108G>A p.G2703E Substitution - Missense Large_intestine COSM312542 LMNB2 c.275G>C p.R92P Substitution - Missense Lung COSM303247 SMARCA4 c.3574C>T p.R1192C Substitution - Missense Skin COSM396785 KMT2C c.2674G>A p.G892R Substitution - Missense Skin COSM457539 PHF16 c.660T>C p.C220C Substitution - coding silent Breast COSM454519 ASH2L c.718C>A p.P240T Substitution - Missense Breast COSM478135 ACTR5 c.926A>G p.N309S Substitution - Missense Kidney COSM477527 SMEK2 c.883A>T p.I295F Substitution - Missense Kidney COSM4300420 IDH2 c.386A>G p.K129R Substitution - Missense Central_nervous_system COSM975859 NCOR1 c.6499C>A p.L2167I Substitution - Missense Endometrium COSM985428 CHD3 c.800G>A p.G267D Substitution - Missense Endometrium COSM480332 PBRM1 c.3143C>G p.P1048R Substitution - Missense Kidney COSM486638 NCOA2 c.1834A>G p.T612A Substitution - Missense Kidney COSM693686 KMT2D c.5884G>A p.G1962S Substitution - Missense Lung COSM695009 APOBEC1 c.97C>T p.R33C Substitution - Missense Oesophagus COSM1051856 PRMT10 c.860G>T p.S287I Substitution - Missense Endometrium COSM1030705 BRWD1 c.2619C>T p.G873G Substitution - coding silent Endometrium COSM1026868 CHD6 c.3838G>A p.E1280K Substitution - Missense Endometrium COSM1031240 AIRE c.508G>A p.A170T Substitution - Missense Small_intestine COSM1031243 AIRE c.709G>A p.E237K Substitution - Missense Endometrium COSM757513 ATRX c.5891G>C p.G1964A Substitution - Missense Lung COSM740194 L3MBTL3 c.477A>C p.E159D Substitution - Missense Lung COSM907761 ARID1A c.6708C>T p.R2236R Substitution - coding silent Endometrium COSM933546 KDM4D c.995G>A p.R332H Substitution - Missense Endometrium COSM999794 KDM4B c.1125G>A p.R375R Substitution - coding silent Endometrium COSM3724479 ARID2 c.73C>T p.Q25* Substitution - Nonsense Large_intestine COSM1122198 HDAC6 c.2162G>A p.R721H Substitution - Missense Endometrium COSM1107413 PSIP1 c.889G>A p.A297T Substitution - Missense Endometrium COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1182541 ALKBH3 c.778C>T p.P260S Substitution - Missense Large_intestine COSM1226746 SMARCA2 c.1302G>T p.K434N Substitution - Missense Large_intestine COSM1169649 PBRM1 c.3625_3626insA p.M1209fs*11 Insertion - Frameshift Kidney COSM1377854 CREBBP c.2517G>T p.Q839H Substitution - Missense Large_intestine COSM1407104 DNMT3A c.2158C>T p.R720C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1433177 PHF15 c.591C>T p.D197D Substitution - coding silent Large_intestine COSM1448538 JHDM1D c.1903C>G p.Q635E Substitution - Missense Large_intestine COSM1445546 PHF3 c.474delA p.A161fs*13 Deletion - Frameshift Large_intestine COSM1353907 PHF21A c.599delA p.N200fs*68 Deletion - Frameshift Large_intestine COSM1491099 PHF8 c.2746A>T p.T916S Substitution - Missense Breast COSM1485251 SETD2 c.61A>C p.N21H Substitution - Missense Breast COSM1617879 PBRM1 c.2568-2A>C p.? Unknown Liver COSM1620724 PRDM1 c.784G>A p.V262I Substitution - Missense Liver COSM1688026 BRDT c.544C>T p.P182S Substitution - Missense Skin COSM1659160 ARID1A c.2402delG p.G801fs*32 Deletion - Frameshift Kidney COSM1719479 MECOM c.2550C>T p.F850F Substitution - coding silent Skin COSM1665326 ACTR5 c.908delG p.R304fs*31 Deletion - Frameshift Kidney COSM1741683 EYA3 c.931G>T p.D311Y Substitution - Missense Urinary_tract COSM1732047 SETD2 c.4970delC p.P1657fs*88 Deletion - Frameshift Kidney COSM1744513 TAF3 c.2213A>G p.E738G Substitution - Missense Biliary_tract COSM1749516 JMJD5 c.903G>A p.E301E Substitution - coding silent Urinary_tract COSM2078744 PHC2 c.1765C>T p.R589C Substitution - Missense Large_intestine COSM2931133 DIDO1 c.3738C>T p.L1246L Substitution - coding silent Large_intestine COSM3089681 EHMT1 c.2114G>A p.R705H Substitution - Missense Large_intestine COSM3283979 MBD3 c.780G>A p.A260A Substitution - coding silent Central_nervous_system COSM3363819 PHF6 c.638G>T p.G213V Substitution - Missense Kidney COSM3370458 CHD9 c.1455T>C p.P485P Substitution - coding silent Thyroid COSM3406603 ATRX c.4026G>A p.R1342R Substitution - coding silent Central_nervous_system COSM3508206 GTF3C1 c.5729C>T p.P1910L Substitution - Missense Skin COSM3473505 SETDB1 c.8C>T p.S3F Substitution - Missense Skin COSM3642804 TRRAP c.6744C>T p.S2248S Substitution - coding silent Skin COSM3589850 MECOM c.2227C>T p.P743S Substitution - Missense Skin COSM3594675 SETD2 c.2494C>T p.R832C Substitution - Missense Skin COSM3560214 SCML2 c.555C>T p.N185N Substitution - coding silent Skin COSM3562443 PHF8 c.1515G>A p.E505E Substitution - coding silent Skin COSM3519494 MBTD1 c.700C>T p.L234F Substitution - Missense Skin COSM3650071 CHD7 c.3178G>A p.E1060K Substitution - Missense Skin COSM3656847 TAF1L c.3053C>T p.S1018F Substitution - Missense Skin COSM3720609 TET2 c.936_937insA p.T313fs*18 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3745658 EYA1 c.1709C>T p.P570L Substitution - Missense Liver COSM3765444 SMARCA2 c.2432G>A p.R811H Substitution - Missense Central_nervous_system COSM3795821 MBTD1 c.145G>C p.E49Q Substitution - Missense Cervix COSM3812599 BAZ2A c.4104C>T p.C1368C Substitution - coding silent Breast COSM3796180 CBX8 c.1144C>T p.Q382* Substitution - Nonsense Urinary_tract COSM3821550 CXXC1 c.921G>A p.M307I Substitution - Missense Breast COSM3833589 TRRAP c.9594A>C p.P3198P Substitution - coding silent Breast COSM3830926 PHF3 c.3970C>T p.H1324Y Substitution - Missense Breast COSM3911568 ADNP c.217C>T p.P73S Substitution - Missense Skin COSM3919886 PRDM9 c.557G>A p.R186K Substitution - Missense Skin COSM3907607 UHRF2 c.2199C>T p.C733C Substitution - coding silent Large_intestine COSM3879585 KMT2C c.4437T>C p.S1479S Substitution - coding silent Stomach COSM3957480 SRCAP c.5894G>A p.R1965Q Substitution - Missense Lung COSM3983290 RAI1 c.5635C>A p.H1879N Substitution - Missense Ovary COSM4016601 BTAF1 c.1667T>C p.L556P Substitution - Missense Stomach COSM4028654 LBR c.1237C>T p.R413C Substitution - Missense Stomach COSM4015210 SIRT1 c.2005A>G p.S669G Substitution - Missense Stomach COSM4046347 ZMYM2 c.922G>A p.A308T Substitution - Missense Stomach COSM4108376 RBBP7 c.826A>C p.N276H Substitution - Missense Stomach COSM4116757 ZCWPW2 c.911T>C p.L304S Substitution - Missense Stomach COSM4065090 PHF12 c.1794C>T p.V598V Substitution - coding silent Stomach COSM4158769 PRDM5 c.491A>T p.K164I Substitution - Missense Thyroid COSM4539941 TDRD1 c.2762G>A p.G921E Substitution - Missense Skin COSM4496025 SETD1B c.1307C>T p.P436L Substitution - Missense Skin COSM4590278 KDM2A c.310A>G p.S104G Substitution - Missense Soft_tissue COSM4593170 LMNA c.1691A>C p.H564P Substitution - Missense Upper_aerodigestive_tract COSM4466489 RBBP5 c.1437C>T p.S479S Substitution - coding silent Skin COSM4470261 KMT2D c.15697C>T p.P5233S Substitution - Missense Skin COSM4678888 DNMT1 c.987delC p.E331fs*14 Deletion - Frameshift Large_intestine COSM4666199 BRPF3 c.2306G>A p.R769H Substitution - Missense Large_intestine COSM4723954 SCMH1 c.1396G>A p.A466T Substitution - Missense Large_intestine COSM4767675 NSD1 c.7438G>A p.D2480N Substitution - Missense Biliary_tract COSM4713961 PHF19 c.1499C>T p.S500L Substitution - Missense Large_intestine COSM4663264 ARID1B c.6574G>A p.E2192K Substitution - Missense Large_intestine COSM4657009 TDRD6 c.4322G>A p.R1441Q Substitution - Missense Large_intestine COSM4916251 TAF3 c.965A>G p.K322R Substitution - Missense Liver COSM4939717 PHF10 c.247C>T p.Q83* Substitution - Nonsense Biliary_tract COSM4954307 KMT2A c.3755C>G p.P1252R Substitution - Missense Liver COSM4992714 DAXX c.2113C>T p.R705W Substitution - Missense Skin COSM4986748 ATAD2 c.17G>A p.S6N Substitution - Missense Soft_tissue COSM5005033 NCOR1 c.560G>A p.R187H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5019942 SETBP1 c.4000+10T>A p.? Unknown Soft_tissue COSM5025912 KAT2B c.677A>T p.N226I Substitution - Missense Breast COSM5364279 HDAC5 c.2646C>T p.Y882Y Substitution - coding silent Large_intestine COSM5500155 SETD1A c.1719+10G>T p.? Unknown Biliary_tract COSM5435934 PRMT7 c.1232G>A p.G411D Substitution - Missense Oesophagus COSM5437780 KDM5C c.3814C>G p.L1272V Substitution - Missense Oesophagus COSM5458651 ZBTB4 c.2873C>T p.A958V Substitution - Missense Large_intestine COSM5634426 BRWD3 c.214C>G p.L72V Substitution - Missense Oesophagus COSM5622512 KDM6A c.3478G>T p.G1160C Substitution - Missense Oesophagus COSM5634452 TTF2 c.2454G>A p.L818L Substitution - coding silent Oesophagus COSM5747306 EED c.370T>C p.Y124H Substitution - Missense Pancreas COSM5611038 TRRAP c.9174C>T p.L3058L Substitution - coding silent Skin COSM5752823 KMT2C c.4524_4525insA p.L1509fs*3 Insertion - Frameshift Breast COSM5708579 TBL1XR1 c.1048-2A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5954544 CHD8 c.1969-2A>G p.? Unknown Upper_aerodigestive_tract COSM5990383 KDM5C c.197C>T p.T66I Substitution - Missense Liver COSM6006300 CHD8 c.5881delC p.R1961fs*2 Deletion - Frameshift Small_intestine COSM5945802 BAP1 c.? p.S63C Substitution - Missense Pleura COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM131566 IDH2 c.? p.R172G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5885194 ASXL1 c.? p.M29V Substitution - Missense Large_intestine COSM1666676 SETBP1 c.? p.I871T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5348027 PHF10 c.556delC p.L186fs*6 Deletion - Frameshift Liver COSM1636751 KDM1B c.1618_1689+1268del1340 p.? Unknown Bone COSM1248218 CHD6 c.4472C>T p.S1491L Substitution - Missense Oesophagus COSM4950702 DNMT1 c.787G>T p.D263Y Substitution - Missense Liver COSM1195666 WDR5 c.601G>A p.A201T Substitution - Missense Lung COSM21481 HNF1A c.872_873insC p.G292fs*25 Insertion - Frameshift Liver COSM5944469 PHF6 c.70_71delAG p.D25fs*10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1008140 BAZ2B c.6300T>G p.V2100V Substitution - coding silent Central_nervous_system COSM937185 EP400 c.7459G>A p.A2487T Substitution - Missense Large_intestine COSM1716674 ATRX c.3133_3137delAAAAG p.K1045fs*1 Deletion - Frameshift Central_nervous_system COSM364788 CHD7 c.8640G>T p.P2880P Substitution - coding silent Lung COSM3637020 HDAC9 c.1258C>T p.P420S Substitution - Missense Skin COSM4935267 ADNP c.2685T>G p.P895P Substitution - coding silent Liver COSM1629541 MGA c.8068G>T p.E2690* Substitution - Nonsense Liver COSM3688066 EP400 c.8612A>G p.Q2871R Substitution - Missense Large_intestine COSM4667487 C20orf20 c.25delG p.G10fs*42 Deletion - Frameshift Large_intestine COSM4497842 NCOR1 c.5021C>T p.P1674L Substitution - Missense Skin COSM204011 EP400 c.7453C>T p.R2485* Substitution - Nonsense Stomach COSM3366235 PRDM13 c.313G>C p.E105Q Substitution - Missense Kidney COSM1303914 DNMT1 c.508C>G p.H170D Substitution - Missense Urinary_tract COSM4990264 KMT2D c.4973-1G>A p.? Unknown Skin COSM3790815 ERCC6 c.1647G>C p.L549L Substitution - coding silent Urinary_tract COSM5620544 CREBBP c.4345G>A p.V1449I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3861867 EHMT2 c.2717A>T p.K906M Substitution - Missense Stomach COSM4603373 EP400 c.8156_8157insGCA p.Q2748_T2749insQ Insertion - In frame Upper_aerodigestive_tract COSM87011 DNMT3A c.2141C>G p.S714C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1205620 ERCC6 c.1360G>T p.D454Y Substitution - Missense Large_intestine COSM4647623 SMARCD1 c.1397A>C p.E466A Substitution - Missense Large_intestine COSM1061361 KDM3B c.4378C>T p.R1460W Substitution - Missense Skin COSM4685799 FTO c.208C>T p.L70F Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1344639 RERE c.248delA p.K83fs*12 Deletion - Frameshift Biliary_tract COSM3814477 CHD8 c.4204C>T p.R1402* Substitution - Nonsense Breast COSM249685 NCOR1 c.448G>A p.G150R Substitution - Missense Upper_aerodigestive_tract COSM5993303 SETDB1 c.3658C>T p.R1220C Substitution - Missense Prostate COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5409747 CHD7 c.7335A>T p.S2445S Substitution - coding silent Skin COSM1538439 SFMBT1 c.2407C>T p.R803W Substitution - Missense Thyroid COSM3723757 SUZ12 c.1648G>A p.E550K Substitution - Missense Upper_aerodigestive_tract COSM1167929 ARID2 c.2872C>T p.Q958* Substitution - Nonsense Skin COSM3661812 NIPBL c.5450A>G p.H1817R Substitution - Missense Liver COSM750810 PRDM14 c.216G>T p.R72R Substitution - coding silent Lung COSM1679451 PHF23 c.245C>T p.S82L Substitution - Missense Prostate COSM4789679 MORF4L1 c.550G>T p.E184* Substitution - Nonsense Liver COSM1607439 MTA1 c.730G>C p.A244P Substitution - Missense Liver COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM125336 PHF17 c.544T>C p.C182R Substitution - Missense Upper_aerodigestive_tract COSM1124919 TAF1 c.5544C>A p.H1848Q Substitution - Missense Endometrium COSM41294 IDH1 c.? p.R132C Substitution - Missense Bone COSM1242712 PRDM9 c.338G>T p.R113L Substitution - Missense Oesophagus COSM1667163 PRDM2 c.1409C>A p.S470Y Substitution - Missense Large_intestine COSM5967277 TET2 c.3500+1G>A p.? Unknown Salivary_gland COSM132977 ASXL1 c.? p.N986S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM910001 DMAP1 c.1175G>A p.R392Q Substitution - Missense Endometrium COSM751081 CHD7 c.1063T>C p.S355P Substitution - Missense Lung COSM3441882 HELLS c.502C>T p.L168F Substitution - Missense Skin COSM673919 BRPF1 c.1078G>T p.V360F Substitution - Missense Endometrium COSM161742 INOC1 c.269C>A p.S90Y Substitution - Missense Breast COSM5346992 ARID1A c.2078G>A p.R693Q Substitution - Missense Endometrium COSM4843404 MYST3 c.5972G>A p.G1991D Substitution - Missense Cervix COSM3474970 ASH1L c.3131C>G p.T1044S Substitution - Missense Skin COSM459747 CHD6 c.7753G>A p.E2585K Substitution - Missense Cervix COSM5026856 KMT2C c.11528_11531delGAAG p.G3843fs*45 Deletion - Frameshift Breast COSM314411 PRDM9 c.410C>T p.A137V Substitution - Missense Soft_tissue COSM5095008 PHF6 c.677G>A p.G226E Substitution - Missense Thymus COSM4763009 ASH1L c.1211T>C p.I404T Substitution - Missense Stomach COSM5399746 PHF7 c.614C>T p.P205L Substitution - Missense Skin COSM1309515 SETD5_ENST00000402198 c.3903C>A p.S1301R Substitution - Missense Urinary_tract COSM254632 CREBBP c.3689A>G p.Y1230C Substitution - Missense Urinary_tract COSM3717734 CBX8 c.431C>T p.A144V Substitution - Missense Liver COSM216305 ZMYM6 c.168G>A p.E56E Substitution - coding silent Pancreas COSM4097974 PHF20 c.2174C>T p.A725V Substitution - Missense Stomach COSM5988450 BAZ2A_ENST00000379441 c.3766T>A p.S1256T Substitution - Missense Salivary_gland COSM3790599 MGMT c.598G>T p.G200C Substitution - Missense Urinary_tract COSM5753517 JMJD1C c.5356G>A p.E1786K Substitution - Missense Large_intestine COSM3529215 MUM1 c.2127C>T p.R709R Substitution - coding silent Skin COSM163752 PRMT8 c.166C>T p.P56S Substitution - Missense Breast COSM1645245 WHSC1 c.692C>T p.S231L Substitution - Missense Pancreas COSM1377539 SETD1A c.4372G>T p.D1458Y Substitution - Missense Large_intestine COSM5562670 KAT6B c.1689G>A p.P563P Substitution - coding silent Prostate COSM474093 DNMT1 c.4520A>G p.H1507R Substitution - Missense Kidney COSM3013856 PRDM9 c.2284C>G p.H762D Substitution - Missense Breast COSM5722703 CBX8 c.1004C>T p.A335V Substitution - Missense Skin COSM4596615 TCF20 c.2281C>T p.H761Y Substitution - Missense Upper_aerodigestive_tract COSM4016200 TAF3 c.2004T>C p.P668P Substitution - coding silent Stomach COSM1675949 RAG2 c.704G>T p.R235I Substitution - Missense Large_intestine COSM1667712 MTF2 c.1721G>A p.R574Q Substitution - Missense Large_intestine COSM320194 EYA4 c.1571C>T p.S524F Substitution - Missense Lung COSM1099583 WHSC1L1 c.1722G>T p.K574N Substitution - Missense Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52917 BAP1 c.38-12_63del38 p.? Unknown Eye COSM1582196 POGZ c.311G>C p.G104A Substitution - Missense Stomach COSM4949455 AP001011.3_ENST00000320876 c.499A>G p.I167V Substitution - Missense Liver COSM4151858 EYA1 c.807A>C p.A269A Substitution - coding silent Ovary COSM1487205 L3MBTL3 c.577G>C p.E193Q Substitution - Missense Breast COSM3358567 PBRM1 c.423_424insG p.D142fs*9 Insertion - Frameshift Kidney COSM3411829 KMT2C c.3767C>G p.A1256G Substitution - Missense Central_nervous_system COSM3630738 ZCWPW1 c.129G>A p.G43G Substitution - coding silent Skin COSM3514569 NCOR1 c.436G>A p.D146N Substitution - Missense Skin COSM473833 SETBP1 c.1941A>G p.K647K Substitution - coding silent Kidney COSM41293 IDH1 c.? p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5500568 PHF11 c.722T>C p.V241A Substitution - Missense Biliary_tract COSM1630782 GATAD2A c.154C>A p.R52R Substitution - coding silent Liver COSM479026 TCF20 c.2293G>T p.D765Y Substitution - Missense Kidney COSM954447 CHD8 c.2004C>A p.F668L Substitution - Missense Endometrium COSM4766091 TET2 c.3409_3409+1insT p.? Unknown Haematopoietic_and_lymphoid_tissue COSM745635 HDAC9 c.830G>T p.G277V Substitution - Missense Lung COSM4540487 SMYD1 c.284G>A p.R95K Substitution - Missense Skin COSM2153238 ZMYND8 c.3393_3395delAGA p.D1132delD Deletion - In frame Central_nervous_system COSM5725619 ARID2 c.992G>A p.G331D Substitution - Missense Skin COSM4717523 PRDM9 c.1043G>A p.R348K Substitution - Missense Large_intestine COSM4762378 SHPRH c.2020C>T p.R674C Substitution - Missense Stomach COSM1622598 KMT2C c.5592C>T p.I1864I Substitution - coding silent Liver COSM987907 ASXL3 c.1158A>C p.E386D Substitution - Missense Endometrium COSM1600795 POGZ c.1475C>T p.T492I Substitution - Missense Liver COSM403944 RTF1 c.827G>T p.R276L Substitution - Missense Lung COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM222512 PRDM2 c.4421C>T p.A1474V Substitution - Missense Skin COSM4653755 TET2 c.3641G>A p.R1214Q Substitution - Missense Large_intestine COSM212102 PRDM16 c.3749C>G p.S1250C Substitution - Missense Breast COSM3428935 BRD8 c.3539T>G p.V1180G Substitution - Missense Large_intestine COSM1361702 ARID2 c.3806C>T p.P1269L Substitution - Missense Oesophagus COSM3446223 PRMT3 c.738C>T p.F246F Substitution - coding silent Skin COSM1716868 SETBP1 c.2640C>A p.D880E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM211728 TET2 c.3965T>A p.L1322Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4393718 RING1 c.341G>A p.R114Q Substitution - Missense Prostate COSM5039740 KDM3B c.4720G>A p.G1574R Substitution - Missense Liver COSM49149 EZH2 c.745G>A p.E249K Substitution - Missense Large_intestine COSM4771513 SMARCD1 c.971C>T p.A324V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM970606 CREBBP c.1612A>C p.T538P Substitution - Missense Endometrium COSM1559373 HNF1A c.1545G>A p.T515T Substitution - coding silent Soft_tissue COSM5730825 SETD2 c.3368T>G p.F1123C Substitution - Missense Breast COSM969262 GTF3C1 c.1885C>T p.R629C Substitution - Missense Endometrium COSM285874 TP53BP1 c.4723G>T p.E1575* Substitution - Nonsense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4821011 TCF20 c.3910C>T p.H1304Y Substitution - Missense Cervix COSM88025 SMARCA4 c.2729C>T p.T910M Substitution - Missense Pancreas COSM1233517 ZMYM1 c.2440C>T p.R814C Substitution - Missense Large_intestine COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4593173 CBX4 c.691A>C p.N231H Substitution - Missense Upper_aerodigestive_tract COSM5719369 ASH1L c.2433C>T p.S811S Substitution - coding silent Skin COSM4591901 NCOR1 c.618+6T>A p.? Unknown Upper_aerodigestive_tract COSM1377475 SRCAP c.5626delC p.P1878fs*89 Deletion - Frameshift Large_intestine COSM1221891 PRDM5 c.695G>A p.R232Q Substitution - Missense Stomach COSM4092234 SP110 c.2121C>T p.G707G Substitution - coding silent Stomach COSM5006566 PBRM1 c.?_?del? p.?fs*? Deletion - Frameshift Kidney COSM3349831 DAXX c.10G>A p.A4T Substitution - Missense Large_intestine COSM5755107 SMARCD2 c.602T>A p.V201D Substitution - Missense Large_intestine COSM304838 CXXC1 c.187A>T p.K63* Substitution - Nonsense Large_intestine COSM1360189 EP400 c.8214G>A p.Q2738Q Substitution - coding silent Lung COSM5021464 BRD9 c.983+9C>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM985540 CHD3 c.5735C>T p.T1912M Substitution - Missense Stomach COSM5506738 PHC2 c.1858G>A p.D620N Substitution - Missense Biliary_tract COSM1078044 PHF1 c.1490C>T p.S497F Substitution - Missense Endometrium COSM1606899 ZMYM2 c.1138A>G p.I380V Substitution - Missense Liver COSM2151062 JHDM1D c.2813G>A p.R938H Substitution - Missense Central_nervous_system COSM1516963 MGA c.3127C>T p.R1043* Substitution - Nonsense Stomach COSM1667286 ARID1A c.1683G>C p.Q561H Substitution - Missense Large_intestine COSM1166319 TDRD5 c.301C>T p.R101* Substitution - Nonsense Large_intestine COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1423580 SETD2 c.815T>G p.V272G Substitution - Missense Skin COSM2067871 ARID2 c.4819C>T p.P1607S Substitution - Missense Large_intestine COSM4170103 TET2 c.4285delT p.F1429fs*19 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3304324 KMT2C c.2926G>A p.A976T Substitution - Missense Soft_tissue COSM4566828 CHD4 c.4833_4834CC>TT p.P1612S Substitution - Missense Skin COSM4991216 SMARCA4 c.585C>T p.P195P Substitution - coding silent Skin COSM4384314 KMT2C c.10208G>A p.R3403H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1746393 MTA2 c.188C>T p.A63V Substitution - Missense Urinary_tract COSM1263877 RBBP4 c.49A>T p.I17F Substitution - Missense Oesophagus COSM1021261 MSH6 c.957G>A p.T319T Substitution - coding silent Endometrium COSM321080 JHDM1D c.1930C>A p.R644S Substitution - Missense Pancreas COSM4446290 KDM3A c.3095-3C>G p.? Unknown Skin COSM3745884 BRD3 c.1020C>T p.A340A Substitution - coding silent Liver COSM4937165 SUV39H2 c.38A>C p.D13A Substitution - Missense Liver COSM4794120 BRPF3 c.2084G>A p.R695Q Substitution - Missense Liver COSM1201021 CHD9 c.7703G>T p.R2568I Substitution - Missense Large_intestine COSM5724047 TDRD1 c.3203C>T p.S1068F Substitution - Missense Skin COSM1622069 ACTL6B c.759+8T>G p.? Unknown Liver COSM1235292 PHF6 c.634_635delTG p.C212fs*11 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4794057 TRRAP c.1963G>A p.V655I Substitution - Missense Liver COSM1048998 SETD5_ENST00000402198 c.2607C>A p.A869A Substitution - coding silent Endometrium COSM231563 DNMT3A c.2311C>T p.R771* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4963938 CHD2 c.891C>A p.D297E Substitution - Missense Pancreas COSM3780987 HDAC7 c.23G>A p.R8Q Substitution - Missense Pancreas COSM121214 MPHOSPH8 c.1005G>A p.P335P Substitution - coding silent Upper_aerodigestive_tract COSM5724114 ATF7IP c.1749A>G p.V583V Substitution - coding silent Skin COSM85981 ATRX c.236C>G p.S79* Substitution - Nonsense Oesophagus COSM5389845 SIRT6 c.939C>T p.A313A Substitution - coding silent Skin COSM5019253 ERCC6 c.1337G>A p.G446D Substitution - Missense Soft_tissue COSM3626168 BRPF3 c.2063C>T p.A688V Substitution - Missense Skin COSM2720001 CHD7 c.1574A>G p.H525R Substitution - Missense Large_intestine COSM897118 LMNA c.991C>T p.R331W Substitution - Missense Endometrium COSM1621859 PHF3 c.4440A>G p.V1480V Substitution - coding silent Liver COSM3365261 PBRM1 c.562C>T p.Q188* Substitution - Nonsense Kidney COSM1067072 PRDM9 c.836G>A p.R279Q Substitution - Missense Endometrium COSM1567726 PRDM9 c.2190C>A p.S730R Substitution - Missense Liver COSM3860006 ARID1B c.6608G>A p.R2203Q Substitution - Missense Stomach COSM1122199 HDAC6 c.2370C>T p.S790S Substitution - coding silent Endometrium COSM4481296 LMNA c.249C>T p.A83A Substitution - coding silent Skin COSM362764 CHD9 c.5951A>G p.Y1984C Substitution - Missense Lung COSM2725387 SMARCA1 c.858C>T p.C286C Substitution - coding silent Biliary_tract COSM1190244 NCOA6 c.2750A>G p.K917R Substitution - Missense Lung COSM2965365 KDM6A c.1980C>A p.L660L Substitution - coding silent Upper_aerodigestive_tract COSM203096 ATAD2 c.354delA p.E119fs*8 Deletion - Frameshift Large_intestine COSM1180774 KDM5A c.3597delA p.G1200fs*9 Deletion - Frameshift Large_intestine COSM1063511 HDAC3 c.221G>A p.S74N Substitution - Missense Endometrium COSM4929309 CHD3 c.5039G>T p.G1680V Substitution - Missense Liver COSM1690271 NCOA1 c.2668C>T p.P890S Substitution - Missense Skin COSM1489870 PSIP1 c.246G>T p.W82C Substitution - Missense Breast COSM3650075 CHD7 c.3898C>T p.P1300S Substitution - Missense Skin COSM4013643 ZMYND11 c.1372C>A p.L458M Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3615928 NIPBL c.512A>G p.N171S Substitution - Missense Skin COSM3662679 PHF3 c.2601A>G p.R867R Substitution - coding silent Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3787662 DPF1 c.395T>C p.L132P Substitution - Missense Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3452413 SUV420H1 c.341C>T p.S114L Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3811576 ATF7IP c.2657G>T p.R886M Substitution - Missense Breast COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5568898 NIPBL c.2544C>A p.S848S Substitution - coding silent Prostate COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4388600 KMT2C c.162-6C>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1708695 CREBBP c.3367C>T p.P1123S Substitution - Missense Skin COSM228110 KMT2C c.1042G>A p.D348N Substitution - Missense Soft_tissue COSM1621725 TDRD6 c.2247T>C p.F749F Substitution - coding silent Liver COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3812159 KMT2D c.4732G>A p.D1578N Substitution - Missense Breast COSM3656499 SMARCA2 c.1969G>A p.E657K Substitution - Missense Skin COSM3411007 DAXX c.1991G>T p.C664F Substitution - Missense Central_nervous_system COSM5944851 PHF6 c.58_59insT p.C20fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4169297 ARID1A c.? p.G314fs*49 Unknown Biliary_tract COSM5648615 DNMT3B c.15C>A p.T5T Substitution - coding silent Oesophagus COSM3663287 ACTB c.57C>G p.A19A Substitution - coding silent Liver COSM5735968 DNMT3A c.2371G>A p.A791T Substitution - Missense Small_intestine COSM2151704 GTF3C1 c.4408G>C p.E1470Q Substitution - Missense Central_nervous_system COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM904643 LBR c.1084G>A p.G362R Substitution - Missense Endometrium COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM450802 ARID1B c.6566G>A p.R2189K Substitution - Missense Breast COSM729157 PHC3 c.1574C>T p.S525L Substitution - Missense Lung COSM1242892 STK31 c.668delA p.K225fs*35 Deletion - Frameshift Biliary_tract COSM1311750 ARID1B c.1814C>G p.S605* Substitution - Nonsense Urinary_tract COSM1756349 MSL3 c.1118G>A p.R373Q Substitution - Missense Urinary_tract COSM749918 ELP3 c.831C>T p.S277S Substitution - coding silent Lung COSM133043 EZH2 c.1718C>T p.T573I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4913471 PHRF1 c.3984A>G p.E1328E Substitution - coding silent Liver COSM335581 PRDM15 c.2672G>T p.G891V Substitution - Missense Lung COSM1745899 KAT6B c.159C>G p.L53L Substitution - coding silent Urinary_tract COSM1490471 SMARCA1 c.126G>A p.A42A Substitution - coding silent Breast COSM4186237 BPTF c.5347A>T p.M1783L Substitution - Missense Kidney COSM96431 EP300 c.5061+2T>A p.? Unknown Breast COSM5748877 BAZ2B c.1291C>T p.R431W Substitution - Missense Pancreas COSM4413600 JMJD1C c.1980_1981TT>GC p.S661P Substitution - Missense Genital_tract COSM43528 TET2 c.630_631delTG p.A211fs*13 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM742196 BRPF3 c.1588C>T p.Q530* Substitution - Nonsense Skin COSM5835364 KMT2C c.6984_6985insA p.G2329fs*38 Insertion - Frameshift Breast COSM21476 HNF1A c.82C>T p.Q28* Substitution - Nonsense Liver COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13372 TRIM33 c.1740G>A p.M580I Substitution - Missense Central_nervous_system COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM52980 EZH2 c.2069G>A p.R690H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM88753 CREBBP c.4506G>T p.W1502C Substitution - Missense Liver COSM87133 TET2 c.3790G>C p.A1264P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144174 EZH2 c.435C>A p.F145L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM185219 MYST1 c.292C>T p.R98W Substitution - Missense Skin COSM184380 GTF3C1 c.3733C>T p.R1245C Substitution - Missense Large_intestine COSM220680 KMT2D c.12796C>T p.R4266* Substitution - Nonsense Urinary_tract COSM225883 KMT2C c.2968A>G p.S990G Substitution - Missense Skin COSM227525 KMT2C c.2294A>G p.E765G Substitution - Missense Skin COSM241488 RUVBL1 c.514-2A>T p.? Unknown Prostate COSM247482 SMYD1 c.390C>T p.D130D Substitution - coding silent Prostate COSM246564 PHF2 c.2620G>A p.D874N Substitution - Missense Prostate COSM231551 DNMT3A c.2580_2597del18 p.C861_R866del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM240235 INO80C c.344A>C p.E115A Substitution - Missense Prostate COSM260971 FMR1 c.1590C>T p.D530D Substitution - coding silent Breast COSM273283 SMYD3 c.1086C>T p.C362C Substitution - coding silent Stomach COSM361286 L3MBTL3 c.388G>T p.D130Y Substitution - Missense Lung COSM437806 SIRT7 c.700G>T p.D234Y Substitution - Missense Breast COSM430814 ATF7IP c.3002G>A p.R1001Q Substitution - Missense Breast COSM443730 PHF20 c.2249A>T p.Q750L Substitution - Missense Breast COSM458080 ATRX c.1967C>T p.S656F Substitution - Missense Skin COSM452153 PHF14 c.921G>C p.K307N Substitution - Missense Breast COSM1050497 PRDM5 c.1507A>G p.T503A Substitution - Missense Endometrium COSM941774 BAZ2A_ENST00000379441 c.1706G>A p.G569D Substitution - Missense Endometrium COSM753635 TAF1L c.2785G>T p.A929S Substitution - Missense Lung COSM745837 KMT2C c.1290G>C p.W430C Substitution - Missense Lung COSM704907 NCOR1 c.3564G>T p.S1188S Substitution - coding silent Lung COSM1715927 SMARCA4 c.4602G>C p.Q1534H Substitution - Missense Liver COSM913243 BRDT c.1774G>C p.E592Q Substitution - Missense Endometrium COSM932713 EED c.813G>T p.M271I Substitution - Missense Endometrium COSM1039207 ZBTB38 c.3179A>G p.H1060R Substitution - Missense Endometrium COSM1058049 PRDM8 c.130T>C p.C44R Substitution - Missense Endometrium COSM969932 SRCAP c.4041G>A p.T1347T Substitution - coding silent Endometrium COSM971261 BRD7 c.1909G>T p.E637* Substitution - Nonsense Endometrium COSM1088660 STK31 c.2883G>T p.M961I Substitution - Missense Endometrium COSM1087521 KMT2C c.13040C>T p.P4347L Substitution - Missense Endometrium COSM1251050 EHMT2 c.943G>T p.E315* Substitution - Nonsense Oesophagus COSM1180961 ATXN7 c.2334delC p.T781fs*11 Deletion - Frameshift Large_intestine COSM1180961 ATXN7 c.2334delC p.T781fs*11 Deletion - Frameshift Large_intestine COSM1184397 BAHCC1 c.4198G>A p.A1400T Substitution - Missense Biliary_tract COSM1604308 PRDM10 c.704C>T p.P235L Substitution - Missense Liver COSM1605866 ATF7IP c.3326A>G p.N1109S Substitution - Missense Liver COSM1289812 MBD6 c.2340G>C p.G780G Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1319512 PHF6 c.65_66insA p.N23fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1381240 RAI1 c.4451C>A p.T1484K Substitution - Missense Large_intestine COSM1413011 DIDO1 c.5652C>T p.G1884G Substitution - coding silent Large_intestine COSM1448371 TRIM24 c.1339C>T p.P447S Substitution - Missense Large_intestine COSM1468256 HDAC6 c.2273G>T p.G758V Substitution - Missense Large_intestine COSM1348597 JMJD1C c.157G>A p.A53T Substitution - Missense Large_intestine COSM1365693 MPHOSPH8 c.209_210insG p.K73fs*1 Insertion - Frameshift Large_intestine COSM1361825 HDAC7 c.1700T>A p.L567H Substitution - Missense Large_intestine COSM1360391 ATF7IP c.952_953insA p.N320fs*4 Insertion - Frameshift Large_intestine COSM1608394 TP53BP1 c.5291-8delT p.? Unknown Liver COSM1615584 ACTR5 c.1299G>T p.V433V Substitution - coding silent Liver COSM1635109 SND1 c.1969-8A>T p.? Unknown Liver COSM1639808 ARID1A c.822delG p.G276fs*87 Deletion - Frameshift Large_intestine COSM1676889 ARID2 c.1006G>T p.G336* Substitution - Nonsense Large_intestine COSM1677406 SIRT4 c.404G>T p.G135V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716712 ATRX c.5240C>A p.T1747K Substitution - Missense Central_nervous_system COSM1718926 GABRG1 c.812G>A p.G271E Substitution - Missense Skin COSM1699146 MLL5 c.4246_4247CC>TT p.P1416F Substitution - Missense Skin COSM1716414 CTCF c.610_611insA p.T204fs*26 Insertion - Frameshift Endometrium COSM1723061 DIDO1 c.4927_4928insC p.R1643fs*37 Insertion - Frameshift Large_intestine COSM1743915 NIPBL c.6776C>T p.A2259V Substitution - Missense Biliary_tract COSM1737874 IDH2 c.418C>G p.R140G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2007092 KMT2D c.6308C>T p.S2103F Substitution - Missense Prostate COSM2246070 ARID4A c.2734C>T p.P912S Substitution - Missense Large_intestine COSM2739045 NCOR1 c.1493G>A p.R498H Substitution - Missense Large_intestine COSM3113029 SRCAP c.8303G>A p.R2768Q Substitution - Missense Large_intestine COSM3075952 BRPF3 c.332C>T p.S111F Substitution - Missense Skin COSM3403340 CBX8 c.329C>T p.S110L Substitution - Missense Central_nervous_system COSM3396084 BAZ2A c.4686G>T p.Q1562H Substitution - Missense Prostate COSM3492902 RERE c.3730C>T p.P1244S Substitution - Missense Skin COSM3416894 KMT2D c.15551G>A p.R5184Q Substitution - Missense Large_intestine COSM3423581 DNMT3B c.2334G>A p.S778S Substitution - coding silent Oesophagus COSM3421816 BPTF c.5601G>A p.L1867L Substitution - coding silent Large_intestine COSM3461195 HDAC7 c.1128C>T p.P376P Substitution - coding silent Skin COSM3623133 KDM1B c.977C>T p.S326L Substitution - Missense Skin COSM3619167 PRDM1 c.288G>A p.R96R Substitution - coding silent Skin COSM3627966 TDRD6 c.4827A>G p.E1609E Substitution - coding silent Skin COSM3547195 NCOA5 c.1712C>T p.P571L Substitution - Missense Skin COSM3514571 NCOR1 c.65C>T p.P22L Substitution - Missense Skin COSM3525868 SETBP1 c.2820G>A p.R940R Substitution - coding silent Skin COSM3649291 MYST3 c.5386C>T p.P1796S Substitution - Missense Skin COSM3660036 UTY c.3671T>A p.M1224K Substitution - Missense Liver COSM3707008 SETD1A c.1654G>C p.A552P Substitution - Missense Liver COSM3720594 TET2 c.5035_5036insT p.Y1679fs*8 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3710908 KMT2D c.9100C>T p.P3034S Substitution - Missense Upper_aerodigestive_tract COSM3772637 KMT2D c.3445T>A p.W1149R Substitution - Missense Pancreas COSM3777560 RING1 c.611G>T p.R204L Substitution - Missense Urinary_tract COSM3786739 HDAC6 c.514G>A p.D172N Substitution - Missense Pancreas COSM3818089 CHD9 c.7363C>T p.H2455Y Substitution - Missense Skin COSM3807493 SIRT1 c.1441G>A p.D481N Substitution - Missense Breast COSM3796446 CXXC1 c.1267G>A p.E423K Substitution - Missense Urinary_tract COSM3839609 MSH6 c.1387G>T p.E463* Substitution - Nonsense Breast COSM3906280 PSIP1 c.544C>T p.R182* Substitution - Nonsense Stomach COSM3873167 DAXX c.1579A>G p.I527V Substitution - Missense Stomach COSM4023058 ASH1L c.3310C>G p.P1104A Substitution - Missense Stomach COSM4031529 PRDM16 c.1252G>A p.D418N Substitution - Missense Stomach COSM4043675 BAZ2A_ENST00000379441 c.2213G>A p.R738Q Substitution - Missense Stomach COSM4042336 KMT2D c.14666G>A p.R4889Q Substitution - Missense Stomach COSM4097805 NCOA6 c.3546G>A p.Q1182Q Substitution - coding silent Stomach COSM4060955 GLYR1 c.616G>A p.A206T Substitution - Missense Stomach COSM4162018 KMT2C c.2315C>T p.S772L Substitution - Missense Upper_aerodigestive_tract COSM4384096 NSD1 c.6968C>T p.A2323V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4385265 EP300 c.6796_6798delCAG p.Q2268delQ Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM4394171 BRD4 c.444A>G p.L148L Substitution - coding silent Skin COSM4413455 KDM2A c.1822C>T p.Q608* Substitution - Nonsense Genital_tract COSM4604610 KDM5A c.1930G>A p.E644K Substitution - Missense Upper_aerodigestive_tract COSM4594560 KMT2C c.2591A>G p.E864G Substitution - Missense Skin COSM4567394 KMT2D c.6119_6120CC>TT p.P2040L Substitution - Missense Skin COSM4548115 ZMYM1 c.439G>A p.D147N Substitution - Missense Skin COSM4590278 KDM2A c.310A>G p.S104G Substitution - Missense Upper_aerodigestive_tract COSM4490146 SFMBT1 c.358C>T p.P120S Substitution - Missense Skin COSM4522705 ACTR5 c.1176G>A p.E392E Substitution - coding silent Skin COSM4452443 SP140_ENST00000392045 c.1860A>G p.G620G Substitution - coding silent Skin COSM4722043 RNF17 c.1221T>C p.I407I Substitution - coding silent Large_intestine COSM4767675 NSD1 c.7438G>A p.D2480N Substitution - Missense Biliary_tract COSM4610755 PHC3 c.1040A>G p.N347S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4606833 TDRD1 c.2138A>T p.D713V Substitution - Missense Adrenal_gland COSM4609155 PRDM9 c.1650G>T p.K550N Substitution - Missense Adrenal_gland COSM4753868 PRDM15 c.3062G>A p.G1021D Substitution - Missense Stomach COSM4790209 EP300 c.5638C>A p.P1880T Substitution - Missense Liver COSM4914243 EP300 c.2469T>C p.P823P Substitution - coding silent Liver COSM4923052 SMEK2 c.86C>T p.S29F Substitution - Missense Liver COSM4942405 TRRAP c.1223A>G p.D408G Substitution - Missense Liver COSM4877135 TP53BP1 c.4819G>A p.A1607T Substitution - Missense Prostate COSM4838531 PHRF1 c.1289C>G p.S430C Substitution - Missense Cervix COSM4830536 CHD6 c.7248G>A p.L2416L Substitution - coding silent Cervix COSM4965357 KDM3B c.4529C>G p.P1510R Substitution - Missense Pancreas COSM4949439 PRDM2 c.512-1G>C p.? Unknown Liver COSM4969518 KMT2A c.10917_10918delAA p.S3640fs*1 Deletion - Frameshift Central_nervous_system COSM4979657 MTF2 c.1355C>G p.S452* Substitution - Nonsense Oesophagus COSM5019699 HNF1A c.864G>C p.G288G Substitution - coding silent Soft_tissue COSM5023821 TRIM33 c.857delT p.F287fs*8 Deletion - Frameshift Bone COSM5064167 PHF2 c.2731G>A p.G911S Substitution - Missense Stomach COSM5048404 EP300 c.6877C>A p.H2293N Substitution - Missense Oesophagus COSM5398699 ACTL6A c.1169G>A p.R390K Substitution - Missense Skin COSM5384988 CHD9 c.4729C>T p.P1577S Substitution - Missense Skin COSM5455688 EYA1 c.28C>T p.H10Y Substitution - Missense Large_intestine COSM5457784 BTAF1 c.3972T>C p.C1324C Substitution - coding silent Large_intestine COSM5642675 PHRF1 c.2398C>T p.R800W Substitution - Missense Oesophagus COSM5649050 ZMYM6 c.1630G>A p.D544N Substitution - Missense Oesophagus COSM5771629 ATAD2B_ENST00000238789 c.2860G>A p.D954N Substitution - Missense Breast COSM5721363 TDRD7 c.2562C>T p.S854S Substitution - coding silent Skin COSM5607868 ARID1B c.6432C>T p.F2144F Substitution - coding silent Skin COSM5677559 FMR1 c.127C>G p.P43A Substitution - Missense Soft_tissue COSM5708586 TBL1XR1 c.920A>C p.H307P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5708592 TBL1XR1 c.811G>C p.A271P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5568560 TAF1L c.1657T>C p.S553P Substitution - Missense Prostate COSM5762867 DNMT3A c.2098C>G p.P700A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5560538 BRD8 c.1821G>C p.M607I Substitution - Missense Prostate COSM5567398 MLL5 c.417C>T p.S139S Substitution - coding silent Prostate COSM5799912 NCOA5 c.898G>C p.E300Q Substitution - Missense Upper_aerodigestive_tract COSM5810971 PHC1 c.439G>T p.A147S Substitution - Missense Liver COSM5805518 HDAC9 c.39A>G p.E13E Substitution - coding silent Liver COSM5820660 KMT2D c.15330T>G p.F5110L Substitution - Missense Liver COSM5882075 PRDM11 c.1280C>T p.P427L Substitution - Missense Skin COSM5944893 DNMT3A c.2479-1G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5945649 DNMT3A c.1655_1656insT p.N553fs*25 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5889275 MGA c.2554C>T p.P852S Substitution - Missense Skin COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52808 PBRM1 c.2022T>G p.D674E Substitution - Missense Kidney COSM1716768 TET2 c.? p.A1512fs*58 Frameshift Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4972324 ASXL1 c.? p.E727fs*17 Frameshift Haematopoietic_and_lymphoid_tissue COSM4167243 TET2 c.? p.V498fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM43413 TET2 c.?_?ins? p.?fs Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1666676 SETBP1 c.? p.I871T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1192095 ARID1A c.3292C>T p.Q1098* Substitution - Nonsense Endometrium COSM4539678 PRDM14 c.271G>A p.D91N Substitution - Missense Skin COSM3416634 EP400 c.4117G>A p.D1373N Substitution - Missense Large_intestine COSM36248 IDH1 c.? p.R132? Substitution - Missense Bone COSM4166186 SMARCB1 c.? p.R377H Substitution - Missense Bone COSM954416 CHD8 c.6970A>G p.T2324A Substitution - Missense Endometrium COSM1072918 NCOA7 c.758A>C p.K253T Substitution - Missense Endometrium COSM5735961 ATAD2B_ENST00000238789 c.2825G>A p.R942H Substitution - Missense Small_intestine COSM609086 KDM4C c.2293C>T p.L765F Substitution - Missense Skin COSM4412149 ASH1L c.3092C>G p.S1031C Substitution - Missense Oesophagus COSM3262449 KMT2C c.13003C>G p.L4335V Substitution - Missense Large_intestine COSM4590343 SETBP1 c.3806A>G p.D1269G Substitution - Missense Upper_aerodigestive_tract COSM133004 ARID1A c.5548_5549insG p.D1850fs*4 Insertion - Frameshift Breast COSM5046121 SRCAP c.9248G>A p.G3083E Substitution - Missense Oesophagus COSM5363123 MGA c.3519T>C p.Y1173Y Substitution - coding silent Large_intestine COSM1989228 MBD6 c.1169G>A p.R390Q Substitution - Missense Stomach COSM3879441 SMARCD3 c.1153T>C p.S385P Substitution - Missense Stomach COSM5610831 TET2 c.345C>T p.D115D Substitution - coding silent Skin COSM20436 TAF1L c.1994delA p.K665fs*4 Deletion - Frameshift Large_intestine COSM4486742 BRD1 c.309C>T p.A103A Substitution - coding silent Skin COSM3479269 TDRD5 c.142C>T p.L48F Substitution - Missense Skin COSM5368829 MGA c.5566C>A p.Q1856K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1107164 EHMT1 c.114T>C p.A38A Substitution - coding silent Endometrium COSM77663 MECOM c.2131A>G p.M711V Substitution - Missense Ovary COSM315157 SHPRH c.1373G>T p.G458V Substitution - Missense Lung COSM3419156 ZMYM1 c.2183A>C p.K728T Substitution - Missense Large_intestine COSM4167252 TET2 c.? p.Q943T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5547301 MGA c.7364_7368delAGCCT p.K2455fs*5 Deletion - Frameshift Prostate COSM25284 SMARCC1 c.1928A>T p.N643I Substitution - Missense Lung COSM266568 FTO c.999T>C p.Y333Y Substitution - coding silent Large_intestine COSM5428709 TIF1 c.276C>A p.P92P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3455338 TDG c.911G>A p.R304Q Substitution - Missense Skin COSM5710460 KMT2C c.7348C>T p.P2450S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM32241 EHMT1 c.3425A>T p.Y1142F Substitution - Missense Breast COSM4793854 JMJD1C c.4228G>A p.G1410R Substitution - Missense Liver COSM249685 NCOR1 c.448G>A p.G150R Substitution - Missense Upper_aerodigestive_tract COSM1082910 ACTL6B c.1156C>T p.R386C Substitution - Missense Breast COSM934220 HCFC2 c.380G>A p.R127Q Substitution - Missense Endometrium COSM4553755 KDM4B c.5G>A p.G2E Substitution - Missense Skin COSM748339 TRRAP c.4653A>G p.T1551T Substitution - coding silent Lung COSM1689310 TDRD5 c.40G>A p.E14K Substitution - Missense Skin COSM5973067 UHRF1 c.837G>T p.L279L Substitution - coding silent Upper_aerodigestive_tract COSM3731429 SMARCC2 c.3128_3129insC p.G1044fs*33 Insertion - Frameshift Large_intestine COSM3730023 HDAC5 c.2793_2794insC p.I932fs*24 Insertion - Frameshift Stomach COSM4020866 TRIM33 c.1372C>T p.R458C Substitution - Missense Stomach COSM1735852 ATRX c.612delC p.Y204fs*1 Deletion - Frameshift Central_nervous_system COSM3733523 NCOR1 c.14G>T p.G5V Substitution - Missense Upper_aerodigestive_tract COSM1745046 KDM6A c.1906_1909delCTAT p.S637fs*53 Deletion - Frameshift Urinary_tract COSM916826 TRDMT1 c.941T>C p.V314A Substitution - Missense Endometrium COSM249685 NCOR1 c.448G>A p.G150R Substitution - Missense Urinary_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4403280 MLL5 c.3408T>C p.T1136T Substitution - coding silent Skin COSM4405049 BAG6 c.1208A>G p.Q403R Substitution - Missense Skin COSM5665115 SP140_ENST00000392045 c.2095G>C p.G699R Substitution - Missense Soft_tissue COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4910543 CHD2 c.2753A>G p.K918R Substitution - Missense Liver COSM5559383 PRDM9 c.1062G>T p.L354L Substitution - coding silent Prostate COSM4953545 BRWD3 c.910T>G p.F304V Substitution - Missense Liver COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM5017656 KAT5 c.372_373delAG p.E127fs*37 Deletion - Frameshift Soft_tissue COSM3378378 KDM6B c.2547G>A p.P849P Substitution - coding silent Pancreas COSM1756767 EP400 c.4536G>A p.P1512P Substitution - coding silent Urinary_tract COSM4986902 NCOA3 c.652C>T p.R218C Substitution - Missense Soft_tissue COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4500563 SMARCB1 c.568C>T p.R190W Substitution - Missense Skin COSM150428 KMT2C c.2958A>G p.P986P Substitution - coding silent Central_nervous_system COSM3940002 PHF16 c.1836T>G p.S612S Substitution - coding silent Oesophagus COSM166346 DNMT3A c.? p.?fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM1291094 ASXL1 c.3824C>G p.S1275* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4074018 SMARCA4 c.811G>A p.G271R Substitution - Missense Stomach COSM1735161 CHD4 c.3955C>T p.R1319W Substitution - Missense Pancreas COSM4695045 KDM6A c.3954A>T p.I1318I Substitution - coding silent Large_intestine COSM5773452 CTCF c.1157A>G p.Y386C Substitution - Missense Breast COSM302660 KMT2C c.4537C>A p.P1513T Substitution - Missense Central_nervous_system COSM88790 EP300 c.4408delA p.M1470fs*26 Deletion - Frameshift Large_intestine COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Liver COSM1622715 STK31 c.777A>T p.L259F Substitution - Missense Liver COSM3704371 CHD4 c.1687-5C>G p.? Unknown Liver COSM1675075 TRDMT1 c.1142T>C p.V381A Substitution - Missense Large_intestine COSM5403281 PRDM9 c.139G>A p.E47K Substitution - Missense Skin COSM734380 GABRG1 c.1303C>T p.R435C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM315106 SETD1A c.4484G>T p.R1495L Substitution - Missense Soft_tissue COSM4607149 MGA c.7615C>T p.R2539* Substitution - Nonsense Adrenal_gland COSM5992557 SMYD3 c.671G>T p.W224L Substitution - Missense Prostate COSM5849078 BAHD1 c.1555C>T p.P519S Substitution - Missense Skin COSM1246287 BTAF1 c.4932G>T p.Q1644H Substitution - Missense Stomach COSM3900885 CHD7 c.8353G>A p.A2785T Substitution - Missense Stomach COSM981673 AKAP1 c.54G>A p.A18A Substitution - coding silent Endometrium COSM4976181 PHF17 c.1721_1730del10 p.W574fs*15 Deletion - Frameshift Oesophagus COSM4777037 GATAD2B c.321G>C p.M107I Substitution - Missense Breast COSM5345617 CHD7 c.3560T>C p.L1187S Substitution - Missense Large_intestine COSM298967 SMARCB1 c.696G>A p.T232T Substitution - coding silent Large_intestine COSM1095746 ATAD2 c.3271G>T p.E1091* Substitution - Nonsense Endometrium COSM1458053 PRDM14 c.1513C>T p.R505C Substitution - Missense Large_intestine COSM3749714 ZMYND8 c.774G>A p.A258A Substitution - coding silent Large_intestine COSM3775246 PBRM1 c.1747G>A p.E583K Substitution - Missense Oesophagus COSM1336706 TDRD5 c.193C>T p.R65C Substitution - Missense Large_intestine COSM2687952 NIPBL c.4930G>A p.G1644R Substitution - Missense Large_intestine COSM1121567 KDM6A c.300T>C p.G100G Substitution - coding silent Endometrium COSM4131185 SMARCA4 c.1524T>C p.H508H Substitution - coding silent Soft_tissue COSM3091823 SMARCA2 c.3078G>A p.E1026E Substitution - coding silent Large_intestine COSM3427676 DHX30 c.1516G>A p.E506K Substitution - Missense Large_intestine COSM5716498 MGA c.7511C>T p.S2504F Substitution - Missense Skin COSM94119 DAXX c.608G>A p.R203Q Substitution - Missense Prostate COSM163706 PRDM15 c.964G>A p.D322N Substitution - Missense Prostate COSM326564 SRCAP c.485C>T p.A162V Substitution - Missense Pancreas COSM1399862 EPC2 c.1797C>A p.A599A Substitution - coding silent Large_intestine COSM699049 UBR7 c.1006G>T p.D336Y Substitution - Missense Lung COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1472697 TDRD10 c.304G>A p.V102M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1699044 ACTL6B c.358T>C p.S120P Substitution - Missense Skin COSM1409885 SMYD1 c.1424C>T p.A475V Substitution - Missense Large_intestine COSM4612857 KAT5 c.371_372insAG p.V128fs*119 Insertion - Frameshift Large_intestine COSM454719 CHD7 c.215A>G p.Y72C Substitution - Missense Large_intestine COSM1103 SMARCB1 c.?_?del? p.?del Deletion - In frame Soft_tissue COSM5357416 JARID2 c.347A>C p.K116T Substitution - Missense Large_intestine COSM1687265 ARID1A c.4372C>T p.Q1458* Substitution - Nonsense Skin COSM4717462 PRDM13 c.816C>T p.L272L Substitution - coding silent Large_intestine COSM4736785 TRRAP c.8003T>A p.I2668N Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52998 EZH2 c.1992T>A p.D664E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1633954 BRD8 c.2266A>G p.T756A Substitution - Missense Liver COSM5669017 MTA1 c.361C>T p.H121Y Substitution - Missense Soft_tissue COSM1093699 TRRAP c.9129C>T p.I3043I Substitution - coding silent Skin COSM33731 IDH2 c.514A>G p.R172G Substitution - Missense Liver COSM1021303 MSH6 c.3586G>T p.E1196* Substitution - Nonsense Endometrium COSM360433 MYST3 c.4754G>T p.S1585I Substitution - Missense Lung COSM5944895 DNMT3A c.2479-2A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM2209464 PYGO2 c.1105C>T p.L369L Substitution - coding silent Large_intestine COSM1621744 CDYL c.763G>A p.G255R Substitution - Missense Liver COSM5746558 EHMT2 c.511A>G p.T171A Substitution - Missense Pancreas COSM377716 ZCWPW1 c.440G>T p.G147V Substitution - Missense Lung COSM5768627 KAT2B c.1609C>T p.L537F Substitution - Missense Breast COSM4575451 KMT2D c.6687C>T p.P2229P Substitution - coding silent Bone COSM1639693 RBBP5 c.219-7delT p.? Unknown Prostate COSM3419674 MTA1 c.1134C>T p.N378N Substitution - coding silent Large_intestine COSM5636159 SHPRH c.2296G>T p.D766Y Substitution - Missense Oesophagus COSM4003461 NSD1 c.6829T>C p.L2277L Substitution - coding silent Soft_tissue COSM5453017 PHF17 c.1008C>T p.A336A Substitution - coding silent Large_intestine COSM4003461 NSD1 c.6829T>C p.L2277L Substitution - coding silent Soft_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM147497 KMT2D c.2015-8C>T p.? Unknown Soft_tissue COSM427630 ERCC6 c.4238A>G p.Q1413R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4146853 EP400 c.6646A>C p.T2216P Substitution - Missense Upper_aerodigestive_tract COSM4506046 HDAC5 c.706C>T p.P236S Substitution - Missense Skin COSM5881226 ARID1A c.5776G>T p.G1926* Substitution - Nonsense Soft_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM445987 TBL1XR1 c.422_423delTA p.I141fs*3 Deletion - Frameshift Breast COSM96419 EP300 c.4195G>T p.D1399Y Substitution - Missense Oesophagus COSM1045435 SETD2 c.5066C>A p.P1689H Substitution - Missense Endometrium COSM28312 CHD1 c.4228G>A p.D1410N Substitution - Missense Lung COSM742330 PHF1 c.547A>G p.N183D Substitution - Missense Lung COSM2149969 PRDM15 c.3657C>T p.H1219H Substitution - coding silent Central_nervous_system COSM261529 KDM5A c.1456G>A p.D486N Substitution - Missense Large_intestine COSM5730606 SFMBT1 c.2228A>G p.Q743R Substitution - Missense Breast COSM5785669 JMJD1C c.5215C>T p.Q1739* Substitution - Nonsense Breast COSM3931546 HNF1A c.1375C>T p.L459L Substitution - coding silent Liver COSM4383568 DNMT3A c.1524_1525delCT p.F509fs*36 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM256035 DNMT3A c.1648G>A p.G550R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4731997 TAF3 c.637C>T p.R213* Substitution - Nonsense Large_intestine COSM5900654 ASH1L c.907G>A p.D303N Substitution - Missense Skin COSM5604954 SMARCA4 c.2297T>G p.V766G Substitution - Missense Skin COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5434483 PRDM14 c.182C>T p.S61F Substitution - Missense Oesophagus COSM5929420 KMT2D c.12391C>T p.Q4131* Substitution - Nonsense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4477380 PHF12 c.2148C>T p.F716F Substitution - coding silent Skin COSM748321 TRRAP c.10299G>T p.E3433D Substitution - Missense Lung COSM1009564 HAT1 c.861C>A p.D287E Substitution - Missense Endometrium COSM1334447 TDRD10 c.741C>T p.R247R Substitution - coding silent Biliary_tract COSM4170458 KMT2D c.1038T>A p.C346* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4493362 MUM1 c.413C>T p.S138F Substitution - Missense Skin COSM4804454 TRRAP c.9925A>T p.R3309W Substitution - Missense Liver COSM3733336 KMT2C c.2263C>T p.Q755* Substitution - Nonsense Upper_aerodigestive_tract COSM3973938 ATRX c.1051G>T p.E351* Substitution - Nonsense Central_nervous_system COSM1579339 PRDM8 c.340T>G p.Y114D Substitution - Missense Fallopian_tube COSM5154289 BAHCC1 c.7620+10G>A p.? Unknown Large_intestine COSM4170399 KMT2D c.12936_12954del19 p.C4313fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3363851 FMR1 c.457G>C p.A153P Substitution - Missense Kidney COSM3360314 SETDB1 c.1745G>A p.C582Y Substitution - Missense Kidney COSM396172 SHPRH c.4560C>G p.V1520V Substitution - coding silent Lung COSM3799745 DIDO1 c.3192G>C p.Q1064H Substitution - Missense Urinary_tract COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5387307 ZBTB4 c.1354C>T p.P452S Substitution - Missense Skin COSM1716180 EZH2 c.? p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1744864 BAP1 c.1231_1232insA p.N411fs*7 Insertion - Frameshift Biliary_tract COSM3637542 STK31 c.1517G>A p.R506K Substitution - Missense Skin COSM3488255 PRDM16 c.3361G>A p.E1121K Substitution - Missense Skin COSM895805 POGZ c.3328C>T p.R1110W Substitution - Missense Endometrium COSM5963912 SMARCA4 c.940G>A p.A314T Substitution - Missense Breast COSM3987071 SMARCC2 c.516C>A p.N172K Substitution - Missense Kidney COSM5740621 SRCAP c.6425C>T p.P2142L Substitution - Missense Small_intestine COSM1301876 SRCAP c.577C>T p.R193* Substitution - Nonsense Urinary_tract COSM5724047 TDRD1 c.3203C>T p.S1068F Substitution - Missense Skin COSM4852421 MUM1 c.1335C>G p.I445M Substitution - Missense Cervix COSM4406882 ARID1B c.4578G>A p.P1526P Substitution - coding silent Liver COSM5631604 KDM6A c.493C>A p.R165R Substitution - coding silent Oesophagus COSM350065 RAD54L c.98G>T p.R33M Substitution - Missense Lung COSM3915312 MECOM c.2191G>A p.E731K Substitution - Missense Skin COSM4040272 EP400 c.5227A>G p.S1743G Substitution - Missense Stomach COSM3756117 SMCHD1 c.2481A>G p.A827A Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM97131 IDH1 c.532G>A p.V178I Substitution - Missense Thyroid COSM3770666 KDM4B c.2598T>C p.C866C Substitution - coding silent Soft_tissue COSM2808621 SMCHD1 c.2059C>T p.R687C Substitution - Missense Large_intestine COSM972486 CTCF c.1094A>C p.K365T Substitution - Missense Endometrium COSM4548357 NCOA6 c.4456G>A p.E1486K Substitution - Missense Upper_aerodigestive_tract COSM5550692 BAHCC1 c.2665G>A p.A889T Substitution - Missense Prostate COSM4921214 NIPBL c.4752C>T p.L1584L Substitution - coding silent Liver COSM4418709 NSD1 c.2176T>C p.S726P Substitution - Missense Soft_tissue COSM1420702 TBL1XR1 c.1539G>A p.R513R Substitution - coding silent Large_intestine COSM1659307 SUZ12 c.1620G>T p.M540I Substitution - Missense Kidney COSM1416621 TCF20 c.2765A>T p.K922I Substitution - Missense Large_intestine COSM1008168 BAZ2B c.628C>T p.R210* Substitution - Nonsense Endometrium COSM5497345 ZMYM3 c.420_435del16 p.L141fs*5 Deletion - Frameshift Biliary_tract COSM1161850 WHSC1 c.581G>T p.S194I Substitution - Missense Kidney COSM5574305 ASXL1 c.? p.P808fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM350382 MBD5 c.2599G>A p.D867N Substitution - Missense Lung COSM1035250 BRD1 c.1213G>A p.E405K Substitution - Missense Endometrium COSM4603625 ATRX c.? p.E813* Substitution - Nonsense Central_nervous_system COSM5027592 KMT2D c.1066C>T p.Q356* Substitution - Nonsense Breast COSM3946003 SETD7 c.324G>A p.G108G Substitution - coding silent Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM187703 MGA c.7450C>T p.R2484W Substitution - Missense Prostate COSM3805366 DMAP1 c.853G>A p.E285K Substitution - Missense Breast COSM1185006 BTAF1 c.1186A>T p.K396* Substitution - Nonsense Large_intestine COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM302445 JARID2 c.581A>T p.D194V Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4383723 MECOM c.431G>T p.S144I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1063495 HDAC3 c.980-1G>T p.? Unknown Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1955352 EPC1 c.57T>C p.V19V Substitution - coding silent Upper_aerodigestive_tract COSM4773540 SETBP1 c.1345_1346insA p.N449fs*8 Insertion - Frameshift Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3563685 BRWD3 c.1684C>T p.R562C Substitution - Missense Skin COSM458026 HDAC8 c.1106T>A p.I369N Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM453257 ACTB c.82C>A p.R28R Substitution - coding silent Breast COSM2140858 CHD2 c.1397G>A p.R466Q Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1351624 KMT2A c.4400T>C p.L1467P Substitution - Missense Large_intestine COSM4713918 PHF12 c.2820C>T p.G940G Substitution - coding silent Large_intestine COSM4702912 MORF4L1 c.839A>C p.Q280P Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1423521 SETD2 c.3929delA p.N1310fs*25 Deletion - Frameshift Large_intestine COSM420722 NIPBL c.1317G>C p.Q439H Substitution - Missense Urinary_tract COSM4689521 HAT1 c.519A>G p.E173E Substitution - coding silent Large_intestine COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5683833 ZCWPW1 c.1206G>T p.G402G Substitution - coding silent Soft_tissue COSM4104430 EP300 c.1442C>T p.P481L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144611 KMT2D c.11101C>T p.Q3701* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM267251 PRDM16 c.1719G>T p.A573A Substitution - coding silent Large_intestine COSM433031 BAZ1A c.4169C>T p.S1390F Substitution - Missense Breast COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3919994 NIPBL c.3433C>T p.R1145C Substitution - Missense Skin COSM1245454 ARID2 c.1624C>T p.R542* Substitution - Nonsense Oesophagus COSM6007405 JHDM1D c.1028G>T p.G343V Substitution - Missense Prostate COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM438515 SMARCA4 c.254C>T p.S85L Substitution - Missense Large_intestine COSM146000 TDRD6 c.4557A>T p.K1519N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM474097 DNMT1 c.647C>A p.P216Q Substitution - Missense Kidney COSM251399 ARID1A c.2632C>T p.Q878* Substitution - Nonsense Liver COSM133001 ARID1A c.5548_5548delG p.D1850fs*33 Deletion - Frameshift Large_intestine COSM4593941 L3MBTL2 c.697G>C p.A233P Substitution - Missense Upper_aerodigestive_tract COSM4124866 GABRG1 c.1186G>A p.V396M Substitution - Missense Stomach COSM3669590 RING1 c.1107C>A p.G369G Substitution - coding silent Liver COSM1486324 KDM3B c.4976G>A p.R1659H Substitution - Missense Breast COSM5567957 PCGF2 c.857C>T p.S286F Substitution - Missense Skin COSM3365296 ATXN7 c.409G>C p.G137R Substitution - Missense Kidney COSM220386 EZH2 c.2045C>G p.A682G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4391825 CHD9 c.1456C>A p.P486T Substitution - Missense Prostate COSM3523233 CBX2 c.935C>T p.P312L Substitution - Missense Skin COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM95308 HNF1A c.1370C>A p.T457N Substitution - Missense Lung COSM97191 TET2 c.4893T>A p.Y1631* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM128638 MYST2 c.890_891delTT p.L298fs*8 Deletion - Frameshift Upper_aerodigestive_tract COSM128435 UHRF1 c.696G>T p.V232V Substitution - coding silent Upper_aerodigestive_tract COSM117772 KDM2A c.2380A>C p.I794L Substitution - Missense Ovary COSM133033 ASXL1 c.4189G>A p.G1397S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM133581 ASXL1 c.2862C>A p.D954E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM140785 CHD3 c.4243C>T p.R1415C Substitution - Missense Skin COSM139202 DIDO1 c.332C>T p.S111F Substitution - Missense Skin COSM149376 SETD2 c.4376C>T p.P1459L Substitution - Missense Soft_tissue COSM211719 TET2 c.3764_3765insA p.Y1255fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM216042 TRIM24 c.2126C>T p.T709I Substitution - Missense Central_nervous_system COSM250044 ATRX c.6849+1G>T p.? Unknown Central_nervous_system COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Central_nervous_system COSM255017 KDM6A c.1663C>T p.Q555* Substitution - Nonsense Urinary_tract COSM268434 PHF3 c.835A>G p.K279E Substitution - Missense Large_intestine COSM268532 ZMYM6 c.1528C>T p.R510* Substitution - Nonsense Large_intestine COSM277587 TAF1L c.2188G>T p.D730Y Substitution - Missense Large_intestine COSM297068 PHF2 c.2961C>A p.T987T Substitution - coding silent Large_intestine COSM311726 HDAC6 c.2409A>C p.P803P Substitution - coding silent Lung COSM317284 EP300 c.4123G>C p.G1375R Substitution - Missense Lung COSM379334 WHSC1 c.3295G>A p.E1099K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM393841 PRDM14 c.800G>T p.G267V Substitution - Missense Lung COSM415415 BTAF1 c.2892C>A p.V964V Substitution - coding silent Urinary_tract COSM417011 CREBBP c.4990C>T p.R1664C Substitution - Missense Urinary_tract COSM426160 ZMYM4 c.3849G>C p.L1283F Substitution - Missense Breast COSM975883 NCOR1 c.887G>T p.R296I Substitution - Missense Endometrium COSM985400 CBX2 c.409C>T p.R137C Substitution - Missense Endometrium COSM480170 SETD2 c.2593C>T p.Q865* Substitution - Nonsense Kidney COSM480288 BAP1 c.799C>T p.Q267* Substitution - Nonsense Kidney COSM480297 BAP1 c.3G>A p.M1I Substitution - Missense Eye COSM480391 PBRM1 c.1803T>G p.N601K Substitution - Missense Kidney COSM582283 MECOM c.1461A>T p.S487S Substitution - coding silent Upper_aerodigestive_tract COSM1600787 VPS72 c.1067C>T p.A356V Substitution - Missense Liver COSM1017608 SP140_ENST00000392045 c.1994G>T p.R665I Substitution - Missense Endometrium COSM1027505 EYA2 c.883G>A p.G295R Substitution - Missense Endometrium COSM1028983 DIDO1 c.2688G>A p.P896P Substitution - coding silent Endometrium COSM1030659 BRWD1 c.6542C>T p.T2181M Substitution - Missense Pancreas COSM703032 CREBBP c.4223G>A p.C1408Y Substitution - Missense Lung COSM930492 KAT5 c.540G>A p.T180T Substitution - coding silent Endometrium COSM945409 ING1 c.678C>T p.C226C Substitution - coding silent Endometrium COSM896938 ASH1L c.2393A>C p.K798T Substitution - Missense Endometrium COSM1045691 DHX30 c.1951G>A p.D651N Substitution - Missense Breast COSM1125509 ATRX c.1252C>T p.R418* Substitution - Nonsense Skin COSM1108245 TAF1L c.1673G>A p.R558Q Substitution - Missense Large_intestine COSM1131918 EHMT2 c.50C>A p.A17D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1133049 ARID1A c.4808_4848del41 p.K1603fs*31 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1104693 PHF19 c.968G>A p.R323Q Substitution - Missense Endometrium COSM1086200 JHDM1D c.2718C>A p.N906K Substitution - Missense Endometrium COSM1238248 ATAD2 c.1651A>G p.I551V Substitution - Missense Oesophagus COSM1257405 MBD5 c.4403T>C p.M1468T Substitution - Missense Oesophagus COSM1212331 KIAA2026_ENST00000399933 c.5590G>A p.G1864R Substitution - Missense Large_intestine COSM1315901 BAZ2B c.3976G>T p.G1326* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1421140 FXR1 c.363_364insA p.N124fs*5 Insertion - Frameshift Large_intestine COSM1422140 KAT2B c.1560C>T p.N520N Substitution - coding silent Large_intestine COSM1457746 CHD7 c.7469C>T p.S2490L Substitution - Missense Large_intestine COSM1341840 RBBP4 c.284C>T p.A95V Substitution - Missense Large_intestine COSM1365706 ZMYM5 c.971A>G p.N324S Substitution - Missense Large_intestine COSM1608853 CHD2 c.1202A>G p.H401R Substitution - Missense Liver COSM1614598 HDAC4 c.2855-8C>A p.? Unknown Liver COSM1619140 PRDM8 c.1780_1782delGCG p.A598delA Deletion - In frame Liver COSM1634215 NIPBL c.6042A>G p.K2014K Substitution - coding silent Liver COSM1636417 FMR1 c.1471+1G>A p.? Unknown Liver COSM1675369 KAT6B c.5917C>T p.P1973S Substitution - Missense Large_intestine COSM1716629 ATRX c.1075_1076insA p.L359fs*3 Insertion - Frameshift Central_nervous_system COSM1716705 ATRX c.4749_4752delGAAA p.K1583fs*22 Deletion - Frameshift Central_nervous_system COSM1716884 TET2 c.1945C>T p.Q649* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1716032 EZH2 c.1559A>C p.N520T Substitution - Missense Small_intestine COSM2183532 POGZ c.3837delA p.K1279fs*31 Deletion - Frameshift Stomach COSM2848394 GABRG1 c.732G>A p.R244R Substitution - coding silent Large_intestine COSM2965375 KDM6A c.2199C>A p.H733Q Substitution - Missense Upper_aerodigestive_tract COSM2996459 PRMT7 c.94A>C p.R32R Substitution - coding silent Large_intestine COSM3075960 BRPF3 c.735C>T p.G245G Substitution - coding silent Stomach COSM3296309 EPC2 c.2109C>T p.T703T Substitution - coding silent Upper_aerodigestive_tract COSM3389196 UHRF1 c.652C>A p.R218R Substitution - coding silent Pancreas COSM3413595 TAF1L c.1968A>T p.Q656H Substitution - Missense Central_nervous_system COSM3509561 CREBBP c.2236C>T p.P746S Substitution - Missense Skin COSM3494296 MTA1 c.2139C>T p.I713I Substitution - coding silent Skin COSM3440152 SFMBT2 c.881A>C p.D294A Substitution - Missense Skin COSM3432133 PHF20L1 c.30A>C p.G10G Substitution - coding silent Large_intestine COSM3424448 SMARCA1 c.705C>A p.H235Q Substitution - Missense Large_intestine COSM3463369 SMARCC2 c.2712G>A p.R904R Substitution - coding silent Skin COSM3467583 MPHOSPH8 c.607A>T p.I203F Substitution - Missense Skin COSM3640345 BAZ1B c.2103T>G p.V701V Substitution - coding silent Skin COSM3545303 DNMT3B c.548G>A p.S183N Substitution - Missense Skin COSM3560208 SCML2 c.1128C>T p.I376I Substitution - coding silent Skin COSM3548807 DIDO1 c.1610C>T p.S537F Substitution - Missense Skin COSM3526241 CXXC1 c.657C>T p.F219F Substitution - coding silent Skin COSM3661775 PRDM9 c.2565A>T p.T855T Substitution - coding silent Liver COSM3663820 CHD7 c.8439C>T p.G2813G Substitution - coding silent Liver COSM3671834 RERE c.467C>A p.P156Q Substitution - Missense Prostate COSM3722551 KMT2D c.6669G>T p.G2223G Substitution - coding silent Soft_tissue COSM3722726 NCOR1 c.450A>G p.G150G Substitution - coding silent Upper_aerodigestive_tract COSM3710883 ARID2 c.723T>C p.V241V Substitution - coding silent Upper_aerodigestive_tract COSM3733560 MYST2 c.1489C>T p.L497F Substitution - Missense Pancreas COSM3749090 PWWP2B c.1041C>T p.P347P Substitution - coding silent Large_intestine COSM3762397 TRIM24 c.2589A>G p.G863G Substitution - coding silent Soft_tissue COSM3767594 SETD5_ENST00000402198 c.2456G>T p.S819I Substitution - Missense Liver COSM3773328 CBX4 c.1497G>T p.A499A Substitution - coding silent Pancreas COSM3934690 ZMYM6 c.1617G>T p.E539D Substitution - Missense Oesophagus COSM3883742 TRRAP c.6350G>A p.R2117Q Substitution - Missense Stomach COSM3901352 NCOA2 c.471A>C p.K157N Substitution - Missense Stomach COSM3952652 TAF1L c.4349G>A p.R1450H Substitution - Missense Lung COSM3966988 TRDMT1 c.287C>G p.T96R Substitution - Missense Central_nervous_system COSM4036870 RSF1 c.4205C>A p.A1402E Substitution - Missense Stomach COSM3986973 KMT2D c.6508G>A p.V2170I Substitution - Missense Stomach COSM4094917 SMEK2 c.1923A>C p.K641N Substitution - Missense Stomach COSM4106226 ZBTB33 c.281G>C p.R94T Substitution - Missense Stomach COSM4059639 GTF3C1 c.5566A>G p.S1856G Substitution - Missense Stomach COSM4129609 NCOR1 c.568C>T p.R190* Substitution - Nonsense Upper_aerodigestive_tract COSM4134606 EYA2 c.1160T>G p.V387G Substitution - Missense Upper_aerodigestive_tract COSM4166106 EP400 c.5258T>C p.L1753P Substitution - Missense Kidney COSM4407548 ACTR6 c.391A>T p.S131C Substitution - Missense Pancreas COSM4501361 HDGFL1 c.586C>T p.P196S Substitution - Missense Skin COSM4537951 KDM6B c.2483G>A p.R828Q Substitution - Missense Skin COSM4566684 TCF20 c.4446_4447CC>TT p.(=) Unknown Skin COSM4584648 SETD5_ENST00000402198 c.2763A>T p.G921G Substitution - coding silent Bone COSM4504298 PRDM9 c.661C>A p.P221T Substitution - Missense Skin COSM4555615 PHF10 c.397G>A p.E133K Substitution - Missense Skin COSM4516800 KMT2D c.232_233GG>AA p.G78K Substitution - Missense Skin COSM4522406 CHD2 c.1161G>A p.K387K Substitution - coding silent Skin COSM4410937 BAP1 c.553G>A p.G185R Substitution - Missense Kidney COSM4411041 ZMYM5 c.530T>C p.M177T Substitution - Missense Kidney COSM4689968 HELLS c.1450G>C p.V484L Substitution - Missense Large_intestine COSM4611655 HDAC2 c.33delA p.V12fs*20 Deletion - Frameshift Large_intestine COSM4627614 DNMT1 c.2981G>A p.G994D Substitution - Missense Large_intestine COSM4620097 PHF20 c.2532C>T p.P844P Substitution - coding silent Large_intestine COSM4624144 TRIM28 c.990G>A p.R330R Substitution - coding silent Large_intestine COSM4759848 TET2 c.4819T>G p.S1607A Substitution - Missense Stomach COSM4799888 MBD5 c.3471G>T p.R1157S Substitution - Missense Liver COSM4797923 TCF20 c.4555G>A p.V1519M Substitution - Missense Liver COSM4886682 CREBBP c.6066G>A p.Q2022Q Substitution - coding silent Upper_aerodigestive_tract COSM4909541 GABRG1 c.613G>C p.E205Q Substitution - Missense Liver COSM4854878 SET c.132-1G>C p.? Unknown Cervix COSM4836979 TDRD5 c.228G>A p.L76L Substitution - coding silent Cervix COSM4835908 RUVBL1 c.904G>A p.D302N Substitution - Missense Cervix COSM4817159 FMR1 c.533C>G p.S178* Substitution - Nonsense Cervix COSM4951689 BRD4 c.1708C>A p.P570T Substitution - Missense Liver COSM4990236 KMT2D c.15016A>G p.K5006E Substitution - Missense Skin COSM5033569 NIPBL c.1822C>T p.L608F Substitution - Missense Skin COSM5020616 KMT2A c.4284A>C p.I1428I Substitution - coding silent Soft_tissue COSM5009480 KMT2C c.8040G>A p.Q2680Q Substitution - coding silent Large_intestine COSM5054302 TP53BP1 c.5820T>C p.P1940P Substitution - coding silent Stomach COSM5396693 NCOA1 c.3556C>T p.P1186S Substitution - Missense Skin COSM5355602 PBRM1 c.3263G>T p.R1088L Substitution - Missense Large_intestine COSM5509607 PHF14 c.2734G>A p.G912R Substitution - Missense Biliary_tract COSM5475770 BAZ1A c.2140A>G p.S714G Substitution - Missense Large_intestine COSM5466911 PHF3 c.3483A>G p.S1161S Substitution - coding silent Large_intestine COSM5426852 SMC1A c.1477G>A p.E493K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5646410 TET2 c.1438delC p.P480fs*6 Deletion - Frameshift Oesophagus COSM5626941 STK31 c.1558C>G p.L520V Substitution - Missense Oesophagus COSM5650142 BAHCC1 c.7129C>T p.R2377C Substitution - Missense Oesophagus COSM5612244 EPC1 c.961T>A p.F321I Substitution - Missense Adrenal_gland COSM5596058 SMCHD1 c.3871G>A p.A1291T Substitution - Missense Skin COSM5614349 CREBBP c.3776A>G p.Q1259R Substitution - Missense Lung COSM5696469 KAT2A c.861C>T p.T287T Substitution - coding silent Soft_tissue COSM5679774 SHPRH c.1984A>T p.I662L Substitution - Missense Soft_tissue COSM5698922 KMT2C c.13041G>T p.P4347P Substitution - coding silent Soft_tissue COSM5674221 PRDM7 c.473A>T p.E158V Substitution - Missense Soft_tissue COSM5752654 ARID1A c.1934C>G p.S645* Substitution - Nonsense Breast COSM5564220 KDM5D c.3454C>T p.R1152C Substitution - Missense Prostate COSM5556120 PHF15 c.262G>T p.G88C Substitution - Missense Prostate COSM5782785 TET2 c.3795G>A p.L1265L Substitution - coding silent Breast COSM5824872 SIRT2 c.1110G>T p.K370N Substitution - Missense Pancreas COSM5944869 PHF6 c.591_592insAGGTCTC p.P200fs*9 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5946334 BAG6 c.1936-13_1936-10delCTTT p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5895577 IDH1 c.520+6T>C p.? Unknown Skin COSM5901534 ATAD2 c.1966C>T p.P656S Substitution - Missense Skin COSM6005091 HDAC6 c.738-7C>A p.? Unknown Prostate COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM1716578 BAP1 c.38-?_255+?del p.? Unknown Pleura COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM1238048 ARID1A c.? p.Q1363* Substitution - Nonsense Skin COSM4167249 TET2 c.? p.K889R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144629 PHF6 c.? p.R274* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1738133 TET2 c.? p.I1177fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM1738035 ASXL1 c.? p.G642fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM5710305 PHF14 c.74G>C p.S25T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4960754 ASXL1 c.2660C>T p.T887I Substitution - Missense Liver COSM51991 BAP1 c.516C>G p.S172R Substitution - Missense Eye COSM4921748 PBRM1 c.4507T>C p.Y1503H Substitution - Missense Liver COSM5469903 KDM2B c.1933C>T p.R645W Substitution - Missense Large_intestine COSM5944268 TET2 c.2454_2457delTTAT p.Y819fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM166347 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3775753 WHSC1 c.1494G>A p.Q498Q Substitution - coding silent Urinary_tract COSM1163312 EP300 c.2546T>C p.I849T Substitution - Missense Pancreas COSM3562432 PHF8 c.1828G>A p.E610K Substitution - Missense Skin COSM3203619 MECOM c.1500T>G p.A500A Substitution - coding silent Upper_aerodigestive_tract COSM4983810 CHD6 c.6845C>T p.A2282V Substitution - Missense Oesophagus COSM4996386 TET2 c.988G>C p.E330Q Substitution - Missense Upper_aerodigestive_tract COSM5642589 BRD9 c.924C>T p.D308D Substitution - coding silent Oesophagus COSM4384356 KMT2C c.1823A>G p.Q608R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3656875 TAF1L c.612T>C p.S204S Substitution - coding silent Skin COSM309309 ASH1L c.832A>T p.T278S Substitution - Missense Lung COSM3206353 FXR1 c.1581T>C p.A527A Substitution - coding silent Upper_aerodigestive_tract COSM314669 RAG2 c.1246T>A p.W416R Substitution - Missense Lung COSM230133 KMT2C c.1173C>A p.C391* Substitution - Nonsense Soft_tissue COSM5576244 NCOA1 c.3047C>T p.P1016L Substitution - Missense Stomach COSM429983 EED c.619C>T p.L207L Substitution - coding silent Soft_tissue COSM328371 PRMT7 c.959T>C p.F320S Substitution - Missense Pancreas COSM1022756 SMYD5 c.762G>T p.E254D Substitution - Missense Bone COSM939216 KDM5A c.3016G>A p.A1006T Substitution - Missense Endometrium COSM3521218 BPTF c.7820A>G p.N2607S Substitution - Missense Skin COSM4775802 ARID1A c.4801C>T p.P1601S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5194755 TCF20 c.5826_5827insC p.Q1944fs*>18 Insertion - Frameshift Breast COSM4950105 GTF3C1 c.713A>T p.H238L Substitution - Missense Liver COSM3753293 KMT2D c.12879C>T p.P4293P Substitution - coding silent Soft_tissue COSM4411206 SCMH1 c.1058C>T p.A353V Substitution - Missense Kidney COSM5697531 SP100 c.2051A>G p.K684R Substitution - Missense Soft_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM1677027 CBX5 c.463G>T p.E155* Substitution - Nonsense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM276129 MSH6 c.3387T>C p.C1129C Substitution - coding silent Large_intestine COSM123748 INOC1 c.3635G>A p.R1212H Substitution - Missense Upper_aerodigestive_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM4736017 TRIM28 c.1963G>C p.A655P Substitution - Missense Large_intestine COSM1258837 NCOA2 c.3603+1G>A p.? Unknown Oesophagus COSM5479179 PRMT7 c.324G>A p.E108E Substitution - coding silent Large_intestine COSM3707010 SETD1A c.2234G>A p.R745Q Substitution - Missense Liver COSM1067729 NIPBL c.7502G>A p.R2501Q Substitution - Missense Endometrium COSM459704 DIDO1 c.2332-8C>T p.? Unknown Skin COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Biliary_tract COSM4385093 ASXL1 c.2201delG p.A735fs*9 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4595028 KMT2C c.2681G>A p.R894Q Substitution - Missense Soft_tissue COSM1578447 TDG c.994_995insA p.Y334fs*2 Insertion - Frameshift Lung COSM1624800 EHMT1 c.2182+7G>T p.? Unknown Liver COSM1635190 KMT2C c.11827G>A p.G3943R Substitution - Missense Liver COSM41292 IDH1 c.? p.R132G Substitution - Missense Bone COSM2225844 SETD8 c.332C>T p.S111F Substitution - Missense Large_intestine COSM4856715 EP300 c.4934G>A p.R1645Q Substitution - Missense Cervix COSM3823999 SETD2 c.4562G>A p.R1521Q Substitution - Missense Oesophagus COSM87001 DNMT3A c.2644C>A p.R882S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1630066 NCOR1 c.515C>T p.S172L Substitution - Missense Upper_aerodigestive_tract COSM1630066 NCOR1 c.515C>T p.S172L Substitution - Missense Central_nervous_system COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1436878 PRDM9 c.550C>T p.R184* Substitution - Nonsense Bone COSM5707469 NCOA3 c.2560C>T p.R854* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4385668 KMT2D c.10412_10413insGCA p.Q3475_H3476insQ Insertion - In frame Haematopoietic_and_lymphoid_tissue COSM124055 L3MBTL4 c.670G>C p.V224L Substitution - Missense Upper_aerodigestive_tract COSM347330 PHF1 c.1459A>G p.K487E Substitution - Missense Lung COSM4557174 WDR5 c.717G>A p.K239K Substitution - coding silent Large_intestine COSM106635 CHD6 c.1545C>T p.I515I Substitution - coding silent Skin COSM4449793 KDM3A c.3314-1G>A p.? Unknown Skin COSM5936227 PRDM7 c.41G>A p.G14E Substitution - Missense Skin COSM5813977 PBRM1 c.1541+1G>C p.? Unknown Liver COSM129642 TDRD5 c.2780A>T p.E927V Substitution - Missense Upper_aerodigestive_tract COSM4765260 PHF3 c.1729_1730insA p.T579fs*20 Insertion - Frameshift Prostate COSM1732209 SETD2 c.289T>G p.L97V Substitution - Missense Kidney COSM3160243 PHF3 c.1078C>A p.L360I Substitution - Missense Large_intestine COSM5108260 ACTL6B c.695_696insC p.N233fs*17 Insertion - Frameshift Breast COSM4611398 ZMYM2 c.3124delA p.K1044fs*33 Deletion - Frameshift Large_intestine COSM971991 SETD6 c.501C>T p.I167I Substitution - coding silent Endometrium COSM3729226 SP100 c.800C>T p.P267L Substitution - Missense Stomach COSM4632179 RERE c.3816C>T p.H1272H Substitution - coding silent Large_intestine COSM4924499 BAG6 c.2979A>G p.E993E Substitution - coding silent Liver COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Central_nervous_system COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3010237 PHF17 c.447A>G p.A149A Substitution - coding silent Large_intestine COSM981672 AKAP1 c.4G>A p.A2T Substitution - Missense Endometrium COSM4637438 SMEK2 c.662A>C p.D221A Substitution - Missense Large_intestine COSM3744598 MGA c.3802A>G p.T1268A Substitution - Missense Liver COSM3752795 TRIM66 c.75G>A p.L25L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3729776 CBX6 c.602A>G p.K201R Substitution - Missense Stomach COSM254814 KMT2A c.8647C>G p.L2883V Substitution - Missense Urinary_tract COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM252979 CLOCK c.368delT p.L123fs*1 Deletion - Frameshift Large_intestine COSM935969 HNF1A c.340C>T p.R114C Substitution - Missense Endometrium COSM4097553 ASXL1 c.1880C>T p.A627V Substitution - Missense Stomach COSM5990001 EZH2 c.1622G>A p.C541Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2834158 BRD7 c.718C>G p.L240V Substitution - Missense Bone COSM4935839 BAZ1B c.2184C>T p.F728F Substitution - coding silent Liver COSM5574703 KDM4B c.766A>T p.I256F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5980721 MGA c.8906C>G p.A2969G Substitution - Missense Upper_aerodigestive_tract COSM3697624 JARID2 c.3227C>G p.P1076R Substitution - Missense Large_intestine COSM910657 ORC1 c.956G>T p.R319I Substitution - Missense Endometrium COSM4394301 RERE c.3414C>T p.D1138D Substitution - coding silent Skin COSM3916167 SETD2 c.2297C>T p.T766I Substitution - Missense Skin COSM4959017 ZMYM4 c.1708G>A p.V570I Substitution - Missense Liver COSM1328123 PBRM1 c.2889C>G p.Y963* Substitution - Nonsense Ovary COSM5995401 SETD7 c.981C>T p.A327A Substitution - coding silent Prostate COSM356743 EP400 c.8223G>A p.Q2741Q Substitution - coding silent Lung COSM211589 KDM6B c.4432T>G p.C1478G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4484659 KDM3A c.2836C>G p.L946V Substitution - Missense Skin COSM97167 PRDM1 c.557_567del11 p.T186fs*9 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3394690 STK31 c.231G>T p.G77G Substitution - coding silent Pancreas COSM5714267 ACTB c.142G>A p.G48S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4094436 MSH6 c.1438G>C p.V480L Substitution - Missense Stomach COSM1742484 CTCF c.1126G>A p.E376K Substitution - Missense Urinary_tract COSM4853696 KDM6A c.2462C>G p.S821* Substitution - Nonsense Cervix COSM376213 TAF1 c.3824C>A p.T1275N Substitution - Missense Lung COSM22599 MEN1 c.871C>G p.P291A Substitution - Missense Parathyroid COSM4385604 TET2 c.4549_4550insT p.S1518fs*60 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3550703 BRWD1 c.4509T>C p.G1503G Substitution - coding silent Skin COSM276729 PHF3 c.4229G>T p.R1410I Substitution - Missense Large_intestine COSM166852 TRIM24 c.2728C>T p.R910C Substitution - Missense Pancreas COSM5164935 PHC3 c.174delC p.S59fs*18 Deletion - Frameshift Large_intestine COSM5576215 KAT6B c.4622C>G p.T1541S Substitution - Missense Stomach COSM4424201 KIAA1045 c.914G>A p.R305Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM147497 KMT2D c.2015-8C>T p.? Unknown Soft_tissue COSM5879033 TET2 c.4081G>C p.G1361R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1444080 BRPF3 c.2111C>T p.P704L Substitution - Missense Large_intestine COSM5558342 DNMT1 c.2943A>T p.K981N Substitution - Missense Prostate COSM3642818 TRRAP c.8204C>T p.S2735F Substitution - Missense Skin COSM13382 MSH6 c.747G>A p.R249R Substitution - coding silent Urinary_tract COSM72768 SP100 c.406G>A p.D136N Substitution - Missense Ovary COSM6006416 KMT2C c.4088T>A p.L1363* Substitution - Nonsense Central_nervous_system COSM1753360 ATXN7 c.2543A>G p.N848S Substitution - Missense Urinary_tract COSM272705 FXR1 c.364delA p.N124fs*14 Deletion - Frameshift Stomach COSM2828870 SETD5_ENST00000402198 c.3849delC p.S1286fs*84 Deletion - Frameshift Stomach COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM325951 NIPBL c.1868C>G p.S623C Substitution - Missense Lung COSM1474736 SFMBT2 c.1321C>T p.H441Y Substitution - Missense Breast COSM4775059 CREBBP c.5371T>C p.S1791P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM484896 TRIM24 c.1661A>C p.N554T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5405115 BRPF3 c.2296C>T p.R766C Substitution - Missense Skin COSM5994857 FXR1 c.51+1G>C p.? Unknown Prostate COSM4385598 TET2 c.3160_3161insT p.V1056fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5996480 BAG6 c.305C>T p.T102M Substitution - Missense Prostate COSM1061240 BRD8 c.2110G>T p.E704* Substitution - Nonsense Endometrium COSM3791226 KMT2A c.11163G>A p.G3721G Substitution - coding silent Urinary_tract COSM1255648 KIAA1045 c.673C>T p.R225C Substitution - Missense Oesophagus COSM1349124 KAT6B c.3252G>A p.E1084E Substitution - coding silent Liver COSM4383790 TET2 c.1252_1255delCTTC p.P419fs*7 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM328978 KMT2C c.8390delA p.K2797fs*26 Deletion - Frameshift Skin COSM4628845 BRD3 c.908G>A p.G303D Substitution - Missense Large_intestine COSM3378295 BPTF c.1184T>C p.V395A Substitution - Missense Pancreas COSM2793048 TDRD7 c.3288A>G p.K1096K Substitution - coding silent Large_intestine COSM315855 TDRD3 c.345G>T p.L115F Substitution - Missense Lung COSM264851 ZMYND11 c.602C>T p.A201V Substitution - Missense Large_intestine COSM3724507 DNMT3A c.? p.L566* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1365143 ACTR6 c.936delT p.F314fs*6 Deletion - Frameshift Large_intestine COSM1717192 BAHD1 c.1958G>T p.W653L Substitution - Missense Fallopian_tube COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4458218 KMT2D c.9961C>G p.L3321V Substitution - Missense Skin COSM937147 EP400 c.2403G>A p.A801A Substitution - coding silent Bone COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5456093 PRDM10 c.3355G>A p.A1119T Substitution - Missense Large_intestine COSM3947389 PRDM9 c.6C>A p.S2R Substitution - Missense Lung COSM921420 BTAF1 c.891C>A p.P297P Substitution - coding silent Endometrium COSM435532 CTCF c.782-1_782insTAC p.G261>VR Complex - insertion inframe Breast COSM5413028 ZMYM3 c.908C>T p.S303F Substitution - Missense Skin COSM34090 IDH2 c.516G>T p.R172S Substitution - Missense Bone COSM969925 SRCAP c.2013A>C p.L671F Substitution - Missense Endometrium COSM990462 DNMT1 c.497C>T p.T166I Substitution - Missense Endometrium COSM255110 MEN1 c.201_202insG p.A68fs*49 Insertion - Frameshift Parathyroid COSM3384361 ARID2 c.4207C>T p.Q1403* Substitution - Nonsense Pancreas COSM3460676 KDM5A c.2130C>T p.P710P Substitution - coding silent Skin COSM1179669 KMT2C c.943G>A p.G315S Substitution - Missense Liver COSM1604167 KMT2A c.7093C>G p.L2365V Substitution - Missense Liver COSM1561248 SFMBT2 c.867T>G p.F289L Substitution - Missense Large_intestine COSM1632973 PHC3 c.1A>G p.M1V Substitution - Missense Liver COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1424600 SFMBT1 c.6C>T p.N2N Substitution - coding silent Large_intestine COSM144496 IDH2 c.? p.R172S Substitution - Missense Biliary_tract COSM4959021 PRDM14 c.200C>T p.P67L Substitution - Missense Liver COSM4507093 LBR c.737C>T p.P246L Substitution - Missense Skin COSM1255157 JARID2 c.3622G>A p.E1208K Substitution - Missense Oesophagus COSM5670649 PHF3 c.5754G>A p.G1918G Substitution - coding silent Soft_tissue COSM1041031 PHC3 c.2869C>T p.R957C Substitution - Missense Endometrium COSM5935732 KAT5 c.344G>A p.G115E Substitution - Missense Skin COSM5990198 HNF1A c.1232_1233insGG p.M412fs*2 Insertion - Frameshift Liver COSM1582021 ARID1A c.6527_6528delAG p.Q2176fs*48 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM6006446 SETBP1 c.? p.G870R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4773314 HDAC10 c.817G>T p.G273W Substitution - Missense Stomach COSM5396456 SP140_ENST00000392045 c.2551G>A p.E851K Substitution - Missense Skin COSM457718 KDM5C c.2941G>A p.E981K Substitution - Missense Breast COSM3509549 CREBBP c.7067C>T p.S2356F Substitution - Missense Skin COSM5463727 MYST3 c.4952C>A p.P1651Q Substitution - Missense Large_intestine COSM43475 TET2 c.(3432_3434)insA p.G1145fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3758609 EYA2 c.738C>T p.D246D Substitution - coding silent Thyroid COSM4725170 SETD5_ENST00000402198 c.1675A>C p.K559Q Substitution - Missense Large_intestine COSM5046101 KMT2D c.4675delA p.I1559fs*23 Deletion - Frameshift Oesophagus COSM1488821 TRRAP c.7959G>A p.A2653A Substitution - coding silent Stomach COSM281635 HDAC9 c.219G>T p.E73D Substitution - Missense Large_intestine COSM3636541 KMT2C c.1114G>A p.D372N Substitution - Missense Skin COSM289487 SMARCA4 c.2986A>T p.I996F Substitution - Missense Large_intestine COSM144698 PHF6 c.? p.A41fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM972464 CTCF c.5A>G p.E2G Substitution - Missense Endometrium COSM265245 TRIM33 c.809G>C p.G270A Substitution - Missense Large_intestine COSM215570 ZMYM4 c.1564A>G p.K522E Substitution - Missense Central_nervous_system COSM4950029 PBRM1 c.2185delG p.V729fs*2 Deletion - Frameshift Liver COSM1605658 HNF1A c.365A>G p.Y122C Substitution - Missense Liver COSM4475233 CHD8 c.1972C>T p.P658S Substitution - Missense Skin COSM4000327 CBX4 c.871T>C p.S291P Substitution - Missense Soft_tissue COSM4942658 MGA c.7743G>A p.K2581K Substitution - coding silent Liver COSM4985489 SIRT7 c.37G>A p.A13T Substitution - Missense Soft_tissue COSM4125215 CLOCK c.569A>G p.Q190R Substitution - Missense Stomach COSM403537 RBBP7 c.520G>A p.G174S Substitution - Missense Lung COSM1492843 EP400 c.8959A>G p.T2987A Substitution - Missense Kidney COSM3917187 SETD7 c.933C>T p.P311P Substitution - coding silent Skin COSM1732090 SETD2 c.4493_4497delAAACA p.K1498fs*5 Deletion - Frameshift Kidney COSM46430 HNF1A c.56C>A p.S19* Substitution - Nonsense Liver COSM53008 EZH2 c.574G>A p.D192N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4992083 TET2 c.5746C>T p.L1916F Substitution - Missense Skin COSM5353235 PRDM16 c.3102C>T p.N1034N Substitution - coding silent Large_intestine COSM124460 MLL5 c.1922C>T p.T641I Substitution - Missense Upper_aerodigestive_tract COSM5358086 KMT2C c.3084T>A p.C1028* Substitution - Nonsense Large_intestine COSM158733 SUZ12 c.488G>A p.G163D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1549457 HDAC9 c.2356C>T p.H786Y Substitution - Missense Skin COSM3633852 TIF1 c.1378C>T p.P460S Substitution - Missense Skin COSM3781610 ARID1B c.768C>A p.G256G Substitution - coding silent Oesophagus COSM88793 EP300 c.4617+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3872348 YEATS4 c.475C>T p.R159C Substitution - Missense Skin COSM3773771 NCOR1 c.549G>A p.Q183Q Substitution - coding silent Large_intestine COSM164473 SMC1A c.249C>T p.V83V Substitution - coding silent Breast COSM1301599 CHD2 c.4769C>G p.S1590C Substitution - Missense Urinary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM228110 KMT2C c.1042G>A p.D348N Substitution - Missense Thyroid COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5885078 ATRX c.? p.E1509_R1510>* Complex - deletion inframe Soft_tissue COSM5781483 ARID1B c.5938G>C p.E1980Q Substitution - Missense Breast COSM4008570 RAD54L c.1634G>A p.G545D Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM110818 BAP1 c.1_2190del2190 p.0? Whole gene deletion Eye COSM257480 KAT6B c.3760C>T p.R1254C Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM989 SMARCB1 c.1130G>A p.R377H Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4450346 MBD6 c.555delC p.P187fs*81 Deletion - Frameshift Stomach COSM1186666 SMARCA5 c.368G>T p.G123V Substitution - Missense Lung COSM6012437 HDAC2 c.821G>T p.C274F Substitution - Missense Skin COSM4170036 TET2 c.4375G>T p.E1459* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5594272 BRPF3 c.3341C>T p.P1114L Substitution - Missense Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5609091 HNF1A c.1295C>T p.S432F Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2723136 MSL3 c.1064G>A p.S355N Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4013504 ZMYND11 c.169G>A p.E57K Substitution - Missense Stomach COSM1169672 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM4681225 EPC2 c.2311C>T p.P771S Substitution - Missense Large_intestine COSM4614478 RERE c.3249delG p.S1084fs*173 Deletion - Frameshift Large_intestine COSM4939323 SETD2 c.2222C>T p.P741L Substitution - Missense Liver COSM4766164 TET2 c.5951_5952insT p.T1985fs*20 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4765267 CTCF c.2064_2065insA p.E691fs*5 Insertion - Frameshift Stomach COSM41741 TET2 c.5618T>C p.I1873T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4530674 ZMYM1 c.1718G>A p.G573E Substitution - Missense Skin COSM3097197 ATRX c.460A>G p.T154A Substitution - Missense Upper_aerodigestive_tract COSM706277 EZH1 c.1637A>T p.K546M Substitution - Missense Lung COSM5651846 ASXL1 c.1866G>C p.L622L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5771179 ZMYND11 c.1257C>G p.N419K Substitution - Missense Breast COSM1234988 ASXL1 c.2122C>T p.Q708* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4777670 CHD2 c.4173_4174insA p.Q1392fs*17 Insertion - Frameshift Prostate COSM4773357 PYGO2 c.374G>C p.G125A Substitution - Missense Stomach COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1413028 DIDO1 c.1425delA p.E476fs*4 Deletion - Frameshift Large_intestine COSM1101411 NCOA2 c.3310G>A p.E1104K Substitution - Missense Endometrium COSM713247 KDM4B c.1950C>T p.D650D Substitution - coding silent Lung COSM4093260 DNMT3A c.2358A>G p.S786S Substitution - coding silent Stomach COSM1636200 UHRF2 c.2222A>C p.Y741S Substitution - Missense Liver COSM1682351 BRD1 c.94A>G p.T32A Substitution - Missense Large_intestine COSM3859994 ARID1B c.5016C>A p.C1672* Substitution - Nonsense Stomach COSM4960640 KDM6B c.1993G>A p.A665T Substitution - Missense Liver COSM4616163 PHRF1 c.4791G>A p.K1597K Substitution - coding silent Large_intestine COSM4437339 TBL1XR1 c.520A>G p.I174V Substitution - Missense Oesophagus COSM133001 ARID1A c.5548_5548delG p.D1850fs*33 Deletion - Frameshift Large_intestine COSM4887407 KDM5D c.4069+1G>T p.? Unknown Upper_aerodigestive_tract COSM4263957 RAI1 c.864G>A p.Q288Q Substitution - coding silent Oesophagus COSM4208021 KMT2D c.14651G>A p.R4884Q Substitution - Missense Upper_aerodigestive_tract COSM5445877 RAI1 c.870_872delGCA p.Q291delQ Deletion - In frame Thyroid COSM181348 PRDM2 c.846A>T p.E282D Substitution - Missense Small_intestine COSM1420488 MECOM c.753delT p.F251fs*21 Deletion - Frameshift Large_intestine COSM3629182 PHF3 c.5327C>T p.P1776L Substitution - Missense Skin COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Endometrium COSM24692 HNF1A c.787C>T p.R263C Substitution - Missense Liver COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM13372 TRIM33 c.1740G>A p.M580I Substitution - Missense Central_nervous_system COSM24905 HNF1A c.327-2A>T p.? Unknown Liver COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85923 ASXL1 c.1934_1934delG p.G645fs*58 Deletion - Frameshift Large_intestine COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Pancreas COSM109496 DIDO1 c.3989C>T p.P1330L Substitution - Missense Skin COSM110813 TET2 c.3861_3861delT p.F1287fs*76 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM133042 EZH2 c.2029G>C p.D677H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM118413 SP140 c.39A>G p.G13G Substitution - coding silent Ovary COSM130413 ARID1A c.2830C>T p.Q944* Substitution - Nonsense Breast COSM136474 NIPBL c.6709C>T p.L2237F Substitution - Missense Skin COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Upper_aerodigestive_tract COSM149376 SETD2 c.4376C>T p.P1459L Substitution - Missense Soft_tissue COSM172621 ASH1L c.6436C>T p.R2146* Substitution - Nonsense Skin COSM184333 SUZ12 c.308G>A p.R103Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM218274 ERCC6 c.2204G>A p.R735Q Substitution - Missense Pancreas COSM218549 SMCHD1 c.2710A>G p.K904E Substitution - Missense Pancreas COSM220685 KMT2D c.7249C>T p.R2417* Substitution - Nonsense Central_nervous_system COSM255181 PHF6 c.90_91insCCCG p.L31fs*6 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM269098 EP300 c.2512C>T p.R838C Substitution - Missense Large_intestine COSM284280 PRMT5 c.897C>A p.L299L Substitution - coding silent Large_intestine COSM311346 GABRG1 c.793G>T p.D265Y Substitution - Missense Soft_tissue COSM348659 KDM5A c.2908A>T p.S970C Substitution - Missense Lung COSM357495 PHC1 c.2648G>A p.R883Q Substitution - Missense Lung COSM381370 HNF1A c.341G>T p.R114L Substitution - Missense Lung COSM384438 FXR1 c.877G>A p.V293I Substitution - Missense Lung COSM397338 KMT2C c.10817G>A p.R3606K Substitution - Missense Lung COSM393712 PRDM9 c.2275G>A p.D759N Substitution - Missense Lung COSM422829 PBRM1 c.3956T>A p.L1319* Substitution - Nonsense Kidney COSM446609 SETD2 c.6104delA p.H2035fs*26 Deletion - Frameshift Breast COSM452819 HDAC9 c.3178G>A p.G1060S Substitution - Missense Breast COSM465589 ZMYND11 c.1616C>A p.S539Y Substitution - Missense Kidney COSM475011 UHRF1 c.1972G>T p.G658C Substitution - Missense Kidney COSM481984 BRD8 c.2586C>T p.H862H Substitution - coding silent Kidney COSM480146 SETD2 c.3837G>A p.W1279* Substitution - Nonsense Kidney COSM693899 ARID2 c.4391G>A p.R1464H Substitution - Missense Lung COSM940094 KMT2D c.784G>A p.A262T Substitution - Missense Endometrium COSM753324 GTF3C4 c.819T>C p.S273S Substitution - coding silent Lung COSM750343 MYST3 c.2996C>G p.S999* Substitution - Nonsense Lung COSM723122 ASXL1 c.2688G>A p.L896L Substitution - coding silent Lung COSM908393 PRDM16 c.3780C>A p.V1260V Substitution - coding silent Endometrium COSM1602155 ARID1A c.5975C>T p.S1992L Substitution - Missense Liver COSM1061369 KDM3B c.4739G>T p.G1580V Substitution - Missense Endometrium COSM1131918 EHMT2 c.50C>A p.A17D Substitution - Missense Upper_aerodigestive_tract COSM1132854 ATAD2 c.3965C>A p.P1322H Substitution - Missense Prostate COSM1087436 SMARCD3 c.579G>T p.K193N Substitution - Missense Endometrium COSM1080946 PHF3 c.611G>A p.S204N Substitution - Missense Endometrium COSM1199737 CBX6 c.485G>A p.R162H Substitution - Missense Large_intestine COSM1205879 EYA2 c.749G>A p.R250Q Substitution - Missense Prostate COSM1235163 DNMT3A c.2053G>A p.G685R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1261003 PBRM1 c.2609_2610insCA p.Q870fs*46 Insertion - Frameshift Stomach COSM1226875 SMNDC1 c.512G>T p.R171I Substitution - Missense Large_intestine COSM1309788 PRMT10 c.1519C>G p.Q507E Substitution - Missense Urinary_tract COSM1286215 MLL5 c.3397T>A p.F1133I Substitution - Missense Autonomic_ganglia COSM1388275 AP001011.3_ENST00000320876 c.2035delA p.K680fs*3 Deletion - Frameshift Large_intestine COSM1388503 ASXL3 c.2141C>T p.P714L Substitution - Missense Large_intestine COSM1422135 KAT2B c.392G>A p.S131N Substitution - Missense Large_intestine COSM1411834 CHD6 c.4806C>T p.N1602N Substitution - coding silent Large_intestine COSM1467078 SCML2 c.1256G>A p.G419E Substitution - Missense Large_intestine COSM1511176 EP400 c.7527G>C p.P2509P Substitution - coding silent Soft_tissue COSM1469585 BRWD3 c.4352G>T p.R1451L Substitution - Missense Large_intestine COSM1494799 SP140_ENST00000392045 c.1610C>T p.A537V Substitution - Missense Kidney COSM1485377 PBRM1 c.4339G>C p.G1447R Substitution - Missense Breast COSM1612161 DPF1 c.614C>T p.A205V Substitution - Missense Liver COSM1620720 PRDM1 c.661G>T p.D221Y Substitution - Missense Liver COSM1582357 ZBTB4 c.877C>T p.R293* Substitution - Nonsense Pancreas COSM1635745 ELP3 c.658A>T p.I220F Substitution - Missense Liver COSM1667292 ARID1A c.6005C>T p.S2002F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1683172 TDRD6 c.4369_4372delAGAT p.R1457fs*12 Deletion - Frameshift Lung COSM1711633 KDM4B c.2845G>A p.E949K Substitution - Missense Lung COSM1663341 PBRM1 c.1300C>T p.R434* Substitution - Nonsense Kidney COSM1730086 TAF1L c.3688C>T p.L1230F Substitution - Missense Liver COSM1732177 BAP1 c.358A>T p.K120* Substitution - Nonsense Kidney COSM2006819 KMT2D c.11872C>G p.Q3958E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2140994 CHD2 c.4841C>T p.P1614L Substitution - Missense Skin COSM2095514 TDRD5 c.1006T>A p.L336I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2778574 KDM4C c.2712G>A p.S904S Substitution - coding silent Large_intestine COSM3349885 PHF1 c.200A>T p.D67V Substitution - Missense Kidney COSM3355856 KMT2D c.3608C>G p.S1203C Substitution - Missense Breast COSM3362498 ASXL3 c.1207T>G p.S403A Substitution - Missense Kidney COSM3389754 CHD6 c.673G>A p.E225K Substitution - Missense Pancreas COSM3385879 ACTA1 c.814G>A p.E272K Substitution - Missense Pancreas COSM3508982 SETD1A c.2102C>T p.A701V Substitution - Missense Skin COSM3473527 SETDB1 c.1583C>T p.S528L Substitution - Missense Skin COSM3473533 SETDB1 c.1906C>T p.R636W Substitution - Missense Skin COSM3636463 KMT2C c.12227G>C p.R4076T Substitution - Missense Skin COSM3596047 PHF7 c.866G>A p.R289K Substitution - Missense Skin COSM3598272 BRPF1 c.3174C>T p.S1058S Substitution - coding silent Skin COSM3563521 ATRX c.1921G>A p.E641K Substitution - Missense Skin COSM3528427 SMARCA4 c.2781C>T p.F927F Substitution - coding silent Skin COSM3652171 TDRD7 c.2442C>T p.I814I Substitution - coding silent Skin COSM3725381 MLL5 c.3359C>T p.T1120I Substitution - Missense Lung COSM3780765 KDM4C c.679+4A>C p.? Unknown Pancreas COSM3844993 KDM5C c.3319G>C p.D1107H Substitution - Missense Breast COSM3925443 CHD7 c.8455C>T p.P2819S Substitution - Missense Skin COSM3906841 TAF1L c.3372G>T p.E1124D Substitution - Missense Stomach COSM3890028 AKAP1 c.1533C>T p.F511F Substitution - coding silent Skin COSM3946023 SMARCA5 c.2629C>G p.P877A Substitution - Missense Lung COSM4022221 POGZ c.3223T>G p.F1075V Substitution - Missense Stomach COSM4044349 CHD4 c.1975G>A p.V659M Substitution - Missense Stomach COSM3988426 SRCAP c.4482A>C p.A1494A Substitution - coding silent Kidney COSM4079947 UHRF1 c.882G>A p.E294E Substitution - coding silent Stomach COSM4110064 KDM5C c.1203C>T p.A401A Substitution - coding silent Stomach COSM4145728 PHF21A c.975C>A p.S325R Substitution - Missense Upper_aerodigestive_tract COSM4168127 TDRD6 c.2524C>G p.Q842E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4389210 KMT2D c.15773G>A p.G5258E Substitution - Missense Pancreas COSM4393406 TP53BP1 c.5431C>T p.R1811* Substitution - Nonsense Prostate COSM4602332 ACTB c.166G>A p.D56N Substitution - Missense Upper_aerodigestive_tract COSM4538806 PRDM9 c.2601G>A p.R867R Substitution - coding silent Skin COSM4521162 PRDM15 c.1098G>A p.R366R Substitution - coding silent Skin COSM4568795 CHD9 c.1320T>A p.F440L Substitution - Missense Skin COSM4493439 DNMT3A c.414C>T p.T138T Substitution - coding silent Skin COSM4514689 PHF8 c.876C>T p.F292F Substitution - coding silent Skin COSM4592612 KAT2A c.1561G>C p.V521L Substitution - Missense Upper_aerodigestive_tract COSM4714008 PHF3 c.303C>A p.T101T Substitution - coding silent Large_intestine COSM4647903 GTF3C1 c.4907A>G p.K1636R Substitution - Missense Large_intestine COSM4606467 HDAC3 c.884G>A p.G295D Substitution - Missense Large_intestine COSM4791694 HNF1A c.614A>C p.K205T Substitution - Missense Liver COSM4792947 CHD6 c.1308G>A p.K436K Substitution - coding silent Liver COSM4909142 KMT2C c.1050G>A p.P350P Substitution - coding silent Large_intestine COSM4922714 TDRD6 c.4376A>T p.E1459V Substitution - Missense Liver COSM4938419 ZMYM4 c.1182A>G p.K394K Substitution - coding silent Liver COSM4856830 NSD1 c.3406G>A p.E1136K Substitution - Missense Cervix COSM4960371 BPTF c.2150G>A p.G717D Substitution - Missense Liver COSM4973215 PRMT2 c.564C>T p.I188I Substitution - coding silent Oesophagus COSM5018115 PHF12 c.2346G>A p.G782G Substitution - coding silent Soft_tissue COSM5009117 KMT2C c.11262C>A p.S3754S Substitution - coding silent Large_intestine COSM5404346 L3MBTL3 c.2018T>A p.F673Y Substitution - Missense Skin COSM5407255 STK31 c.2633C>T p.S878F Substitution - Missense Skin COSM5365789 PHF20 c.808+6delT p.? Unknown Large_intestine COSM5630172 PHF3 c.650C>T p.S217L Substitution - Missense Oesophagus COSM5546595 KMT2D c.11728C>T p.Q3910* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5623787 APOBEC1 c.107C>A p.A36D Substitution - Missense Oesophagus COSM5629965 KDM4D c.159A>T p.P53P Substitution - coding silent Oesophagus COSM5732356 KMT2D c.15529-2A>G p.? Unknown Pancreas COSM5747200 MGMT c.143C>T p.A48V Substitution - Missense Pancreas COSM5722154 ING1 c.141C>T p.I47I Substitution - coding silent Skin COSM5582596 SP140_ENST00000392045 c.1634C>T p.S545F Substitution - Missense Skin COSM5731229 ARID1A c.5577_5578delCG p.F1859fs*41 Deletion - Frameshift Central_nervous_system COSM5622243 ZMYM4 c.4409T>C p.V1470A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5708609 TBL1XR1 c.119A>G p.N40S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5767069 CHD6 c.710G>A p.R237H Substitution - Missense Breast COSM5879100 EZH2 c.878A>G p.D293G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5801672 MLL5 c.130_143del14 p.Y46fs*15 Deletion - Frameshift Breast COSM5801909 GLYR1 c.434_436delAGA p.K145delK Deletion - In frame Breast COSM5816920 PRDM16 c.1483C>A p.P495T Substitution - Missense Liver COSM5812923 MGA c.2122A>T p.K708* Substitution - Nonsense Liver COSM5944214 DNMT3A c.2174-2_2175delAGAG p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5981155 RAI1 c.1850C>A p.A617D Substitution - Missense Upper_aerodigestive_tract COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM52954 DNMT3A c.? p.R882P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM51384 IDH1 c.? p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4972323 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Central_nervous_system COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1582314 SETD1A c.4712G>A p.R1571Q Substitution - Missense Stomach COSM3551343 AIRE c.1522G>A p.E508K Substitution - Missense Skin COSM4099355 ADNP c.1452A>G p.I484M Substitution - Missense Stomach COSM1604978 MEN1 c.1718_1723delGCGCCA p.S573_A574delSA Deletion - In frame Liver COSM76390 SETD7 c.1028G>T p.G343V Substitution - Missense Ovary COSM4788433 PHF21B c.1575G>A p.Q525Q Substitution - coding silent Liver COSM100075 TET2 c.4193T>C p.L1398P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5718270 PHF16 c.869G>A p.C290Y Substitution - Missense Skin COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Central_nervous_system COSM988404 SETBP1 c.4202G>T p.R1401L Substitution - Missense Endometrium COSM20436 TAF1L c.1994delA p.K665fs*4 Deletion - Frameshift Large_intestine COSM276128 MSH6 c.554A>C p.K185T Substitution - Missense Large_intestine COSM5903371 TTF2 c.2849C>T p.S950F Substitution - Missense Skin COSM5439573 KAT2B c.941C>G p.S314W Substitution - Missense Oesophagus COSM4555836 TRRAP c.6655G>A p.E2219K Substitution - Missense Skin COSM3719099 SRCAP c.952delA p.R318fs*62 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1267584 TDRD5 c.2731G>A p.D911N Substitution - Missense Oesophagus COSM3763333 ASH2L c.13G>C p.G5R Substitution - Missense Large_intestine COSM1609874 NCOR1 c.5541_5565del25 p.R1848fs*11 Deletion - Frameshift Liver COSM4041495 PRMT8 c.652C>T p.R218W Substitution - Missense Stomach COSM3358430 KDM5C c.80delC p.P27fs*46 Deletion - Frameshift Kidney COSM1324882 BPTF c.7318C>A p.Q2440K Substitution - Missense Ovary COSM4949329 TP53BP1 c.2047A>T p.N683Y Substitution - Missense Liver COSM912514 RERE c.3575G>A p.R1192Q Substitution - Missense Kidney COSM1750520 SETBP1 c.194C>T p.S65L Substitution - Missense Urinary_tract COSM3547361 ZMYND8 c.749-1G>A p.? Unknown Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM5733617 RNF17 c.5C>T p.A2V Substitution - Missense Pancreas COSM4810868 BRD3 c.315C>T p.F105F Substitution - coding silent Urinary_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4578217 MGA c.5398T>C p.S1800P Substitution - Missense Bone COSM675755 ASH1L c.5203G>C p.D1735H Substitution - Missense Lung COSM1190305 DIDO1 c.5549G>C p.G1850A Substitution - Missense Lung COSM5615125 SMYD5 c.743G>C p.R248P Substitution - Missense Lung COSM2834930 CHD9 c.7194C>T p.L2398L Substitution - coding silent Prostate COSM377494 SRCAP c.8864C>A p.S2955Y Substitution - Missense Lung COSM3746948 ZMYM4 c.2265-10G>T p.? Unknown Liver COSM4408161 TRIM33 c.983C>T p.A328V Substitution - Missense Pancreas COSM895829 POGZ c.1692C>T p.I564I Substitution - coding silent Endometrium COSM1121687 PHF16 c.121G>T p.A41S Substitution - Missense Endometrium COSM3499652 SETD3 c.775C>T p.P259S Substitution - Missense Skin COSM2889254 ASXL1 c.1671C>T p.T557T Substitution - coding silent Stomach COSM305573 KAT6B c.4764C>T p.L1588L Substitution - coding silent Central_nervous_system COSM5002282 PRDM9 c.1981G>T p.E661* Substitution - Nonsense Pancreas COSM5976622 ATAD2 c.833_834insTGATGA p.D277_E278insDD Insertion - In frame Upper_aerodigestive_tract COSM4615271 BAHCC1 c.543delC p.S183fs*117 Deletion - Frameshift Large_intestine COSM138403 MECOM c.1900C>T p.P634S Substitution - Missense Skin COSM4771018 HDAC11 c.228G>C p.T76T Substitution - coding silent Pleura COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5437034 KMT2C c.7443-2_7443-1insA p.? Unknown Oesophagus COSM275829 LBR c.535G>T p.E179* Substitution - Nonsense Large_intestine COSM5028456 DOT1L c.734T>G p.F245C Substitution - Missense Breast COSM4449805 TDRD1 c.3363delA p.N1123fs*10 Deletion - Frameshift Skin COSM1757212 TRRAP c.7624G>A p.E2542K Substitution - Missense Urinary_tract COSM5576024 KMT2D c.12101C>A p.P4034H Substitution - Missense Stomach COSM306873 KMT2D c.10846_10847CA>CCA p.Q3616fs Complex Central_nervous_system COSM5812918 AICDA c.544-4A>C p.? Unknown Liver COSM239310 CHD6 c.6383C>T p.P2128L Substitution - Missense Prostate COSM896931 ASH1L c.3456G>T p.K1152N Substitution - Missense Endometrium COSM1697564 PHIP c.5146C>T p.P1716S Substitution - Missense Skin COSM1322349 PHRF1 c.556T>A p.C186S Substitution - Missense Ovary COSM5774711 HDAC7 c.2590-7T>C p.? Unknown Breast COSM5741992 BRWD1 c.4390T>A p.S1464T Substitution - Missense Small_intestine COSM4153884 JHDM1D c.1959A>G p.S653S Substitution - coding silent Ovary COSM1675948 RAG2 c.1221A>C p.E407D Substitution - Missense Central_nervous_system COSM970125 MYST1 c.418C>T p.R140C Substitution - Missense Upper_aerodigestive_tract COSM1236638 MECOM c.1124G>A p.R375K Substitution - Missense Autonomic_ganglia COSM1125390 ATRX c.7090C>A p.L2364I Substitution - Missense Endometrium COSM1304125 MBD3 c.384G>A p.Q128Q Substitution - coding silent Urinary_tract COSM469788 CHD8 c.2809C>G p.L937V Substitution - Missense Kidney COSM1220396 PHIP c.995-1G>A p.? Unknown Large_intestine COSM4097537 ASXL1 c.166C>A p.L56I Substitution - Missense Stomach COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM907698 ARID1A c.2248C>T p.R750* Substitution - Nonsense Endometrium COSM5364255 BAHCC1 c.7519G>A p.E2507K Substitution - Missense Large_intestine COSM3820984 BAHCC1 c.3854C>A p.A1285E Substitution - Missense Breast COSM1028938 C20orf20 c.600G>A p.K200K Substitution - coding silent Endometrium COSM166833 TET2 c.3210delT p.A1071fs*11 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM473495 CHD3 c.3303C>A p.Y1101* Substitution - Nonsense Kidney COSM213176 KMT2C c.10036C>G p.L3346V Substitution - Missense Breast COSM1673209 BAZ1B c.3320A>C p.K1107T Substitution - Missense Large_intestine COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Central_nervous_system COSM6013146 MYST3 c.2311C>T p.P771S Substitution - Missense Skin COSM1449466 KMT2C c.1412G>T p.G471V Substitution - Missense Large_intestine COSM5472496 ATAD2 c.1557+6A>T p.? Unknown Large_intestine COSM916827 TRDMT1 c.799C>A p.L267I Substitution - Missense Endometrium COSM4713951 PHF16 c.1561G>A p.G521R Substitution - Missense Large_intestine COSM3662910 SND1 c.1609G>A p.G537S Substitution - Missense Liver COSM1130405 BRD1 c.220A>G p.N74D Substitution - Missense Prostate COSM5016844 NCOA3 c.56A>G p.K19R Substitution - Missense Kidney COSM5441436 CHRAC1 c.355G>C p.D119H Substitution - Missense Oesophagus COSM1485082 ZCWPW2 c.780C>A p.N260K Substitution - Missense Breast COSM3294868 ZMYND8 c.2411C>T p.T804M Substitution - Missense Large_intestine COSM4994826 TDG c.979_980ins111 p.K326_M327ins37 Insertion - In frame Large_intestine COSM1436889 PRDM9 c.2011C>T p.R671W Substitution - Missense Large_intestine COSM5341920 SIRT4 c.484G>A p.G162R Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3794756 CCDC101 c.764G>A p.R255Q Substitution - Missense Urinary_tract COSM235408 SMARCC1 c.2175C>T p.V725V Substitution - coding silent Skin COSM3596273 SFMBT1 c.2451C>T p.F817F Substitution - coding silent Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3788788 ASH1L c.2659C>G p.P887A Substitution - Missense Urinary_tract COSM5181793 ZMYM1 c.1044A>G p.I348M Substitution - Missense Large_intestine COSM285446 SUV420H1 c.1461T>G p.N487K Substitution - Missense Large_intestine COSM41293 IDH1 c.? p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1721371 TDRD6 c.4549_4550insA p.M1520fs*13 Insertion - Frameshift Skin COSM294699 PHF8 c.1126C>A p.L376M Substitution - Missense Large_intestine COSM4008364 DMAP1 c.851C>T p.T284M Substitution - Missense Stomach COSM5921196 NCOR1 c.2728C>T p.P910S Substitution - Missense Skin COSM5607220 ZBTB33 c.1942G>A p.E648K Substitution - Missense Skin COSM5680570 AP001011.3_ENST00000320876 c.5184T>C p.H1728H Substitution - coding silent Soft_tissue COSM1028966 DIDO1 c.5768T>G p.F1923C Substitution - Missense Endometrium COSM487507 KDM4C c.90C>A p.N30K Substitution - Missense Upper_aerodigestive_tract COSM473480 KDM6B c.2635G>T p.A879S Substitution - Missense Upper_aerodigestive_tract COSM3751679 TRDMT1 c.168G>A p.T56T Substitution - coding silent Large_intestine COSM1093545 TRRAP c.142A>C p.N48H Substitution - Missense Endometrium COSM97162 PRDM1 c.183G>A p.E62fs Unknown Haematopoietic_and_lymphoid_tissue COSM3175978 PHIP c.2959A>G p.N987D Substitution - Missense Large_intestine COSM2006583 KMT2D c.15397C>T p.R5133C Substitution - Missense Skin COSM3382536 KIAA2026_ENST00000399933 c.5433G>A p.S1811S Substitution - coding silent Pancreas COSM1363039 SMARCC2 c.3128delC p.P1043fs*18 Deletion - Frameshift Large_intestine COSM4799699 CHD1 c.2968A>G p.M990V Substitution - Missense Liver COSM4706994 NIPBL c.7038_7039insA p.Y2349fs*41 Insertion - Frameshift Large_intestine COSM4163940 KIAA2026_ENST00000399933 c.2074T>C p.L692L Substitution - coding silent Thyroid COSM468037 EP400 c.8226A>G p.Q2742Q Substitution - coding silent Cervix COSM4528777 RNF17 c.1562G>A p.G521E Substitution - Missense Skin COSM1228036 SUV39H1 c.657C>G p.I219M Substitution - Missense Large_intestine COSM5347201 ARID1A c.?_?del? p.Q172fs*? Deletion - Frameshift Endometrium COSM4885195 KDM6A c.1177C>A p.R393R Substitution - coding silent Upper_aerodigestive_tract COSM4970182 ATRX c.980_984delAAGAA p.K329fs*3 Deletion - Frameshift Central_nervous_system COSM5029692 PRDM1 c.1158T>C p.C386C Substitution - coding silent Bone COSM4611662 PHF14 c.540delA p.K182fs*19 Deletion - Frameshift Large_intestine COSM4032628 RAG2 c.1235A>G p.E412G Substitution - Missense Stomach COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4731924 TAF1 c.1091A>G p.Y364C Substitution - Missense Large_intestine COSM5646460 ARID1B c.996C>G p.L332L Substitution - coding silent Oesophagus COSM4697545 LBR c.1348G>A p.D450N Substitution - Missense Large_intestine COSM4533855 NCOA1 c.2020G>A p.G674S Substitution - Missense Skin COSM1680023 BPTF c.1105G>A p.D369N Substitution - Missense Kidney COSM1685359 SETBP1 c.? p.G870D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1334032 TDRKH c.209G>A p.R70Q Substitution - Missense Large_intestine COSM3931546 HNF1A c.1375C>T p.L459L Substitution - coding silent Liver COSM3998492 PHRF1 c.381C>A p.A127A Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5019838 BAP1 c.1235C>T p.T412I Substitution - Missense Soft_tissue COSM3807279 ERCC6 c.3742G>T p.D1248Y Substitution - Missense Breast COSM1742156 KDM6A c.4124delT p.L1375fs*9 Deletion - Frameshift Urinary_tract COSM1293129 ATF2 c.266C>T p.A89V Substitution - Missense Large_intestine COSM1100824 CHD7 c.4603G>A p.A1535T Substitution - Missense Endometrium COSM1125503 ATRX c.1584T>G p.I528M Substitution - Missense Endometrium COSM5704351 EP400 c.2212C>T p.Q738* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4965738 BTAF1 c.5197G>A p.D1733N Substitution - Missense Pancreas COSM431529 BAZ2A c.5474G>A p.R1825Q Substitution - Missense Stomach COSM5515738 TFPT c.246C>A p.Y82* Substitution - Nonsense Biliary_tract COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1122981 KDM5C c.64G>A p.A22T Substitution - Missense Endometrium COSM4603233 DIDO1 c.4878_4879insC p.A1627fs*53 Insertion - Frameshift Upper_aerodigestive_tract COSM270714 MGA c.5599C>T p.R1867* Substitution - Nonsense Large_intestine COSM3399693 VPS72 c.83A>G p.E28G Substitution - Missense Central_nervous_system COSM5768134 KMT2A c.5602G>C p.E1868Q Substitution - Missense Breast COSM1045433 SETD2 c.5337A>G p.V1779V Substitution - coding silent Endometrium COSM5951268 CBX8 c.955_956insG p.L320fs*38 Insertion - Frameshift Oesophagus COSM5346916 ARID1A c.6146_6149delGGTG p.W2050fs*84 Deletion - Frameshift Endometrium COSM4535985 PRDM16 c.2256G>T p.K752N Substitution - Missense Skin COSM4891310 LMNB2 c.1208G>T p.G403V Substitution - Missense Upper_aerodigestive_tract COSM132995 ARID1A c.6228C>A p.Y2076* Substitution - Nonsense Large_intestine COSM5493141 PRMT5 c.1513C>T p.R505W Substitution - Missense Biliary_tract COSM5425997 TDG c.930G>A p.E310E Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4457052 PRDM2 c.1030C>T p.P344S Substitution - Missense Skin COSM4990225 ARID2 c.797G>A p.W266* Substitution - Nonsense Skin COSM5355895 WHSC1 c.3951G>A p.P1317P Substitution - coding silent Large_intestine COSM30487 SETD2 c.5619_5626delGGATCTGC p.L1873fs*50 Deletion - Frameshift Kidney COSM1485269 DHX30 c.29-1G>T p.? Unknown Breast COSM21134 BRD3 c.107C>A p.T36N Substitution - Missense Kidney COSM3498274 ALKBH1 c.576C>T p.F192F Substitution - coding silent Skin COSM1999575 KDM1A c.422G>T p.R141I Substitution - Missense Large_intestine COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM4965578 ARID1A c.1963G>T p.G655* Substitution - Nonsense Endometrium COSM1239540 MYST3 c.4673G>A p.S1558N Substitution - Missense Oesophagus COSM3989665 SMARCA4 c.2952C>G p.V984V Substitution - coding silent Kidney COSM5995036 KAT2B c.1914G>T p.K638N Substitution - Missense Prostate COSM52918 BAP1 c.1984-1G>T p.? Unknown Urinary_tract COSM4689691 HDAC6 c.2299A>T p.M767L Substitution - Missense Large_intestine COSM5210619 KMT2C c.620delC p.S207fs*3 Deletion - Frameshift Breast COSM4427267 PHF12 c.89C>A p.P30H Substitution - Missense Oesophagus COSM4099089 NCOA3 c.22T>G p.L8V Substitution - Missense Stomach COSM1477117 ZMYM2 c.2353G>A p.G785R Substitution - Missense Breast COSM1378075 GLYR1 c.1140delG p.R381fs*20 Deletion - Frameshift Large_intestine COSM4384153 MLL5 c.1488A>T p.K496N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5019889 SETBP1 c.3388C>A p.P1130T Substitution - Missense Soft_tissue COSM1606144 ARID2 c.4427C>T p.S1476F Substitution - Missense Liver COSM1942670 SETDB2 c.2145delA p.I718fs*>2 Deletion - Frameshift Large_intestine COSM35884 MSH6 c.1932G>C p.R644S Substitution - Missense Breast COSM724361 ZMYND8 c.1480G>T p.A494S Substitution - Missense Lung COSM88750 CREBBP c.4301T>C p.L1434P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM361728 RNF17 c.732A>T p.A244A Substitution - coding silent Lung COSM4912645 LBR c.1438A>T p.N480Y Substitution - Missense Liver COSM488628 ATRX c.5226G>T p.R1742S Substitution - Missense Kidney COSM3862918 ASH1L c.4377C>T p.P1459P Substitution - coding silent Skin COSM5667460 ARID4A c.1255G>C p.E419Q Substitution - Missense Soft_tissue COSM3805543 ORC1 c.1430G>A p.R477Q Substitution - Missense Breast COSM4752033 SRCAP c.8387T>C p.M2796T Substitution - Missense Stomach COSM144493 DNMT3A c.1118T>C p.L373P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4436850 KDM3A c.3095-3C>T p.? Unknown Oesophagus COSM5019273 PRDM1 c.2034G>A p.P678P Substitution - coding silent Soft_tissue COSM1125459 ATRX c.3703C>T p.L1235L Substitution - coding silent Endometrium COSM4590050 PRDM10 c.1332A>C p.E444D Substitution - Missense Upper_aerodigestive_tract COSM3956237 ALKBH1 c.388A>C p.N130H Substitution - Missense Lung COSM4610732 KAT6B c.4312G>A p.E1438K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5064532 HCFC1 c.2248C>T p.R750C Substitution - Missense Stomach COSM249137 DNMT3A c.2146G>A p.V716I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5012633 SETD1B c.585G>T p.E195D Substitution - Missense Kidney COSM5755479 SUV420H2 c.1331T>C p.L444P Substitution - Missense Large_intestine COSM4394085 RAI1 c.2114C>T p.P705L Substitution - Missense Skin COSM3987928 BAHD1 c.656G>A p.R219Q Substitution - Missense Kidney COSM5430979 DOT1L c.4803G>C p.P1601P Substitution - coding silent Oesophagus COSM1608008 ALKBH1 c.857A>G p.N286S Substitution - Missense Liver COSM1238724 DPF2 c.857C>T p.T286M Substitution - Missense Small_intestine COSM4427425 CHD3 c.100+4A>G p.? Unknown Oesophagus COSM97816 EP300 c.4154G>T p.C1385F Substitution - Missense Lung COSM5367200 SUV39H1 c.297G>A p.R99R Substitution - coding silent Large_intestine COSM955463 BAZ1A c.2494C>A p.L832I Substitution - Missense Endometrium COSM3563108 ZMYM3 c.2400G>A p.G800G Substitution - coding silent Skin COSM1080950 PHF3 c.1518G>A p.P506P Substitution - coding silent Endometrium COSM5367135 TAF1 c.363C>T p.S121S Substitution - coding silent Large_intestine COSM1266240 SMARCA4 c.2932C>T p.R978* Substitution - Nonsense Liver COSM3447084 RAG2 c.1478G>A p.R493K Substitution - Missense Skin COSM3666007 KMT2A c.6800A>G p.Q2267R Substitution - Missense Liver COSM217218 HAT1 c.717T>G p.S239R Substitution - Missense Liver COSM4071699 AP001011.3_ENST00000320876 c.2178A>G p.K726K Substitution - coding silent Stomach COSM5035778 CHD2 c.2577G>T p.E859D Substitution - Missense Oesophagus COSM4890028 TDG c.931G>T p.V311L Substitution - Missense Upper_aerodigestive_tract COSM4665051 BAHCC1 c.4942G>T p.G1648W Substitution - Missense Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2175490 HNF1A c.1539C>A p.T513T Substitution - coding silent Large_intestine COSM3656876 TAF1L c.600G>A p.V200V Substitution - coding silent Skin COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM228110 KMT2C c.1042G>A p.D348N Substitution - Missense Soft_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1041411 TBL1XR1 c.1460T>C p.F487S Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3358459 SETD2 c.2348_2349delAT p.Y783fs*12 Deletion - Frameshift Kidney COSM4778240 NIPBL c.7100T>C p.V2367A Substitution - Missense Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM267971 ASXL1 c.2893C>T p.R965* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM4765777 PBRM1 c.774_775insA p.A259fs*5 Insertion - Frameshift Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1469221 TAF1 c.3088C>T p.R1030C Substitution - Missense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1049756 TET2 c.2546C>T p.T849I Substitution - Missense Bone COSM3555544 BRD1 c.1348C>T p.P450S Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4900370 PRDM1 c.1608G>A p.K536K Substitution - coding silent Skin COSM2199974 SETD3 c.1494G>A p.P498P Substitution - coding silent Stomach COSM52888 PBRM1 c.3671delG p.C1224fs*3 Deletion - Frameshift Kidney COSM238941 BAP1 c.1730-9_1732delTCTTCCCAGAGG p.? Unknown Prostate COSM5893067 NSD1 c.3133C>T p.R1045C Substitution - Missense Skin COSM4794013 BRWD1 c.1244G>A p.G415E Substitution - Missense Liver COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM4167273 TET2 c.? p.R1440P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1670246 BAP1 c.1550C>T p.T517M Substitution - Missense Large_intestine COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2929538 TFPT c.144_145delGT p.S49fs*13 Deletion - Frameshift Large_intestine COSM4387636 KMT2C c.2657G>A p.R886H Substitution - Missense Skin COSM3401114 YY1 c.223C>G p.H75D Substitution - Missense Central_nervous_system COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM162500 KMT2D c.15242G>T p.R5081L Substitution - Missense Large_intestine COSM1721241 HDGFL1 c.663_664GG>AA p.E222K Substitution - Missense Skin COSM220386 EZH2 c.2045C>G p.A682G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5741171 CBX4 c.298T>C p.S100P Substitution - Missense Small_intestine COSM2974758 TRIM28 c.706G>A p.A236T Substitution - Missense Lung COSM2834918 CHD9 c.6308G>A p.R2103H Substitution - Missense Large_intestine COSM3817641 JMJD5 c.357C>A p.A119A Substitution - coding silent Breast COSM5349713 GLYATL1 c.898G>C p.E300Q Substitution - Missense Lung COSM5986598 TBL1XR1 c.418_419insTA p.T140fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1361971 KMT2D c.12641G>A p.R4214Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3714781 WHSC1 c.2185C>T p.R729C Substitution - Missense Upper_aerodigestive_tract COSM4410851 SUV39H2 c.634delA p.R213fs*2 Deletion - Frameshift Kidney COSM4990889 CREBBP c.1828C>T p.Q610* Substitution - Nonsense Skin COSM5464567 SIRT2 c.169C>T p.R57C Substitution - Missense Large_intestine COSM312117 KDM4B c.2225C>A p.P742Q Substitution - Missense Lung COSM5361621 ARID2 c.246T>C p.C82C Substitution - coding silent Large_intestine COSM423570 TTF2 c.2751G>A p.L917L Substitution - coding silent Breast COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Pancreas COSM923594 KMT2A c.8069C>A p.S2690Y Substitution - Missense Endometrium COSM216207 KDM6A c.3768C>G p.Y1256* Substitution - Nonsense Central_nervous_system COSM4501827 ARID1A c.5994C>T p.D1998D Substitution - coding silent Skin COSM181348 PRDM2 c.846A>T p.E282D Substitution - Missense Large_intestine COSM5560583 TRIM33 c.2150T>G p.M717R Substitution - Missense Prostate COSM1496504 TIF1 c.2733G>C p.L911F Substitution - Missense Kidney COSM1602445 KDM4A c.2728A>G p.K910E Substitution - Missense Liver COSM1449837 HDAC9 c.1761G>A p.A587A Substitution - coding silent Large_intestine COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM30369 SETD2 c.2965C>T p.R989* Substitution - Nonsense Skin COSM37030 EZH2 c.1936T>C p.Y646H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM29495 SMARCB1 c.1145delC p.P383fs*4 Deletion - Frameshift Central_nervous_system COSM53200 ASXL1 c.1773C>G p.Y591* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM84464 DOT1L c.1057G>A p.A353T Substitution - Missense Pancreas COSM96531 IDH1 c.209G>A p.G70D Substitution - Missense Thyroid COSM112021 ZBTB4 c.11_12insC p.A5fs*18 Insertion - Frameshift Breast COSM112121 PRDM2 c.2104_2105insCTC p.P703_A704insP Insertion - In frame Upper_aerodigestive_tract COSM133672 IDH2 c.516G>C p.R172S Substitution - Missense Bone COSM194431 CTCF c.1024C>T p.R342C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM215705 BPTF c.2041_2042insTTTA p.K681fs*2 Insertion - Frameshift Central_nervous_system COSM233509 STK31 c.1092G>A p.M364I Substitution - Missense Skin COSM225883 KMT2C c.2968A>G p.S990G Substitution - Missense Soft_tissue COSM243220 BPTF c.753G>A p.E251E Substitution - coding silent Prostate COSM236225 SETD4 c.721G>T p.V241F Substitution - Missense Autonomic_ganglia COSM251386 ARID1A c.2184_2198>T p.P728fs Complex Liver COSM261995 MGA c.3724C>T p.R1242* Substitution - Nonsense Urinary_tract COSM282893 MSL3 c.1425G>T p.K475N Substitution - Missense Large_intestine COSM301382 KAT6B c.2790G>A p.A930A Substitution - coding silent Liver COSM291806 EP300 c.1810C>G p.R604G Substitution - Missense Large_intestine COSM293246 SP140_ENST00000392045 c.1593C>A p.V531V Substitution - coding silent Large_intestine COSM326600 SUV39H2 c.148A>T p.I50L Substitution - Missense Lung COSM368965 HDAC9 c.1830C>T p.S610S Substitution - coding silent Lung COSM436343 SUZ12 c.343_346delCTTA p.Y117fs*24 Deletion - Frameshift Breast COSM459508 ARID2 c.595A>G p.I199V Substitution - Missense Cervix COSM454729 CHD7 c.6261G>C p.L2087L Substitution - coding silent Breast COSM484586 MLL5 c.5037A>C p.P1679P Substitution - coding silent Kidney COSM482566 NSD1 c.1236+2T>C p.? Unknown Kidney COSM734365 GABRG1 c.209C>T p.S70L Substitution - Missense Skin COSM928935 GLYATL1 c.913C>T p.R305C Substitution - Missense Endometrium COSM931216 SUV420H1 c.714G>A p.E238E Substitution - coding silent Skin COSM1108247 TAF1L c.1255G>A p.E419K Substitution - Missense Endometrium COSM1125805 BRWD3 c.4905C>T p.Y1635Y Substitution - coding silent Endometrium COSM1181004 NIPBL c.8320delA p.I2776fs*3 Deletion - Frameshift Large_intestine COSM1195840 ZMYM4 c.1756G>A p.A586T Substitution - Missense Lung COSM1257799 KMT2C c.11549G>A p.R3850Q Substitution - Missense Stomach COSM1267546 TCF20 c.5444G>C p.G1815A Substitution - Missense Oesophagus COSM1605811 EP400 c.6366+7G>A p.? Unknown Liver COSM1308268 BRD1 c.1770C>T p.P590P Substitution - coding silent Biliary_tract COSM1325517 CARM1 c.1156G>A p.G386S Substitution - Missense Ovary COSM1322945 ZMYM2 c.762T>C p.T254T Substitution - coding silent Ovary COSM1329536 PHIP c.2312T>C p.V771A Substitution - Missense Ovary COSM1333446 PRDM2 c.832_834delGAA p.E282delE Deletion - In frame Large_intestine COSM1326793 NCOA6 c.2962C>A p.P988T Substitution - Missense Ovary COSM1429841 GABRG1 c.506G>A p.R169Q Substitution - Missense Skin COSM1415176 SMARCB1 c.606C>T p.D202D Substitution - coding silent Large_intestine COSM1437282 NIPBL c.4914A>C p.L1638F Substitution - Missense Large_intestine COSM1447863 SND1 c.1254G>A p.T418T Substitution - coding silent Large_intestine COSM1462018 TAF1L c.652A>C p.T218P Substitution - Missense Large_intestine COSM1341435 ARID1A c.6706C>T p.R2236C Substitution - Missense Large_intestine COSM1483710 NCOA3 c.3047C>G p.S1016C Substitution - Missense Breast COSM1615832 DIDO1 c.3116G>T p.R1039L Substitution - Missense Liver COSM1633254 PBRM1 c.3271C>G p.P1091A Substitution - Missense Liver COSM1633957 KDM3B c.2299delA p.N767fs*28 Deletion - Frameshift Liver COSM1637858 KDM4B c.736A>G p.I246V Substitution - Missense Bone COSM1679020 SRCAP c.6329G>A p.R2110H Substitution - Missense Large_intestine COSM1677485 EP400 c.2177C>T p.S726L Substitution - Missense Lung COSM1658768 TET2 c.1837_1838insG p.L615fs*23 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1704883 PRMT8 c.1067G>A p.G356E Substitution - Missense Skin COSM1701990 EHMT1 c.20C>T p.S7L Substitution - Missense Skin COSM1663471 PHF15 c.1913G>T p.G638V Substitution - Missense Kidney COSM1724208 PHC2 c.2040C>T p.F680F Substitution - coding silent Skin COSM2175897 KDM2B c.1235C>T p.A412V Substitution - Missense Large_intestine COSM2210712 ASH1L c.3935C>T p.P1312L Substitution - Missense Large_intestine COSM2738986 NCOR1 c.5086G>C p.A1696P Substitution - Missense Upper_aerodigestive_tract COSM2732625 PHF2 c.2309C>T p.A770V Substitution - Missense Large_intestine COSM2783400 ATXN7 c.1396G>A p.A466T Substitution - Missense Large_intestine COSM2950078 BRPF1 c.2741C>T p.P914L Substitution - Missense Large_intestine COSM3089671 EHMT1 c.1919C>T p.T640M Substitution - Missense Large_intestine COSM3066661 SETMAR c.362T>A p.L121Q Substitution - Missense Large_intestine COSM3153105 EP300 c.1777C>T p.P593S Substitution - Missense Skin COSM3291623 CHD6 c.8076G>C p.L2692F Substitution - Missense Large_intestine COSM3353939 CDYL c.1434C>T p.F478F Substitution - coding silent Upper_aerodigestive_tract COSM3359410 RSF1 c.3919G>A p.E1307K Substitution - Missense Kidney COSM3363700 BRD1 c.2160G>C p.E720D Substitution - Missense Kidney COSM3387158 CHD2 c.827-8T>G p.? Unknown Pancreas COSM3406562 ZMYM3 c.1288C>A p.R430R Substitution - coding silent Central_nervous_system COSM3396818 BAZ1B c.250T>A p.Y84N Substitution - Missense Breast COSM3501433 TP53BP1 c.1356C>T p.S452S Substitution - coding silent Skin COSM3501004 INOC1 c.2596C>T p.P866S Substitution - Missense Skin COSM3501106 MGA c.5811C>T p.S1937S Substitution - coding silent Skin COSM3423581 DNMT3B c.2334G>A p.S778S Substitution - coding silent Large_intestine COSM3460977 ARID2 c.4096A>T p.K1366* Substitution - Nonsense Skin COSM3467581 MPHOSPH8 c.254C>T p.S85L Substitution - Missense Skin COSM3463534 BAZ2A_ENST00000379441 c.2740C>G p.P914A Substitution - Missense Skin COSM3642780 TRRAP c.4866C>T p.F1622F Substitution - coding silent Skin COSM3546352 CHD6 c.7495C>T p.P2499S Substitution - Missense Skin COSM3561783 PHF16 c.1194G>A p.Q398Q Substitution - coding silent Oesophagus COSM3531605 DOT1L c.3312C>T p.S1104S Substitution - coding silent Skin COSM3720483 UTY c.2888G>T p.G963V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3722551 KMT2D c.6669G>T p.G2223G Substitution - coding silent Soft_tissue COSM3740445 EP300 c.4301A>G p.H1434R Substitution - Missense Liver COSM3760264 SETD5_ENST00000402198 c.3923C>T p.T1308I Substitution - Missense Large_intestine COSM3751430 RERE c.38A>G p.K13R Substitution - Missense Large_intestine COSM3751678 TRDMT1 c.301C>T p.H101Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3790117 ORC1 c.444G>A p.L148L Substitution - coding silent Urinary_tract COSM3861877 EHMT2 c.1284C>T p.C428C Substitution - coding silent Stomach COSM3850375 BRD8 c.1227A>C p.E409D Substitution - Missense Stomach COSM3911763 DIDO1 c.638T>C p.L213P Substitution - Missense Skin COSM3873172 DAXX c.767G>A p.R256H Substitution - Missense Stomach COSM3901342 NCOA2 c.2064A>C p.K688N Substitution - Missense Stomach COSM3970883 LMNB2 c.1352C>T p.S451L Substitution - Missense Central_nervous_system COSM3980474 PHRF1 c.1913C>A p.T638N Substitution - Missense Ovary COSM4003715 SHPRH c.2632C>T p.R878* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3994300 NIPBL c.1706A>T p.E569V Substitution - Missense Kidney COSM4106227 ZBTB33 c.526G>A p.E176K Substitution - Missense Stomach COSM4104562 TCF20 c.1409T>C p.V470A Substitution - Missense Stomach COSM4170148 TET2 c.1836_1837insG p.L615fs*23 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4170756 CREBBP c.4448T>A p.I1483N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4385565 TET2 c.845_846insT p.E283fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4382816 PRMT7 c.132+1G>A p.? Unknown Large_intestine COSM4387531 ATF7IP c.3141_3142GA>TT p.T1048S Substitution - Missense Pancreas COSM4385265 EP300 c.6796_6798delCAG p.Q2268delQ Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM4399344 BAP1 c.1928T>C p.I643T Substitution - Missense Skin COSM4444128 MLL5 c.2879T>C p.I960T Substitution - Missense Large_intestine COSM4587147 TIF1 c.1601A>G p.Q534R Substitution - Missense Bone COSM4427895 TP53BP1 c.2551C>T p.Q851* Substitution - Nonsense Oesophagus COSM4448106 BAHCC1 c.3742C>G p.P1248A Substitution - Missense Skin COSM4671300 CDYL2 c.927C>T p.S309S Substitution - coding silent Large_intestine COSM4713924 PHF12 c.338delA p.K113fs*36 Deletion - Frameshift Large_intestine COSM4665026 BAG6 c.1533T>G p.P511P Substitution - coding silent Large_intestine COSM4622200 PHRF1 c.2154C>A p.G718G Substitution - coding silent Large_intestine COSM4776701 BAZ1A c.3736G>C p.E1246Q Substitution - Missense Breast COSM4643352 KDM4C c.2257G>A p.A753T Substitution - Missense Large_intestine COSM4655189 PHRF1 c.1751G>T p.C584F Substitution - Missense Large_intestine COSM4775033 ASXL1 c.2674_2675insCGGC p.N893fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4759847 TET2 c.2632C>A p.L878I Substitution - Missense Stomach COSM4757791 RSF1 c.578+2T>C p.? Unknown Stomach COSM4808658 BTAF1 c.5145G>C p.L1715F Substitution - Missense Pancreas COSM4898590 NCOA6 c.5939T>C p.L1980P Substitution - Missense Skin COSM4928462 TRIM24 c.1457G>A p.R486Q Substitution - Missense Liver COSM4851572 KDM5A c.3845G>A p.R1282H Substitution - Missense Cervix COSM4950827 ARID2 c.2992G>A p.G998R Substitution - Missense Liver COSM4993628 HDAC7 c.428_429insC p.E146fs*11 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4997770 TDRD6 c.2277G>T p.K759N Substitution - Missense Pancreas COSM5061253 BRD9 c.345C>T p.H115H Substitution - coding silent Stomach COSM5075566 BAP1 c.1799_1800insAC p.K601fs*17 Insertion - Frameshift Kidney COSM5230498 KMT2C c.11037delA p.E3679fs*2 Deletion - Frameshift Breast COSM5358374 ZCWPW1 c.1063C>T p.P355S Substitution - Missense Large_intestine COSM5760375 PRDM9 c.2316G>T p.G772G Substitution - coding silent Bone COSM5652793 ING2 c.624T>G p.D208E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5650959 ATXN7 c.2452T>A p.S818T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5735925 SMYD3 c.1054A>G p.I352V Substitution - Missense Small_intestine COSM5738426 ATAD2 c.238G>T p.D80Y Substitution - Missense Small_intestine COSM5602858 ASXL3 c.2690A>T p.K897I Substitution - Missense Skin COSM5621277 MORF4L1 c.553A>G p.N185D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5762854 CREBBP c.2728A>G p.T910A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5550736 EHMT1 c.2708C>T p.A903V Substitution - Missense Prostate COSM5567882 CHD3 c.614C>T p.S205L Substitution - Missense Prostate COSM5881501 PRDM2 c.2605C>A p.H869N Substitution - Missense Breast COSM5945454 EP300 c.2241+5G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5951726 JHDM1D c.1816A>C p.N606H Substitution - Missense Oesophagus COSM5960728 TDRD5 c.1962G>A p.E654E Substitution - coding silent Breast COSM4166533 TET2 c.? p.L1322Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM33666 SMARCB1 c.986_987ins? p.? Unknown Central_nervous_system COSM52866 PBRM1 c.2625delT p.R876fs*39 Deletion - Frameshift Kidney COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716574 BAP1 c.376-?_580+?del p.? Unknown Pleura COSM5006565 KDM5C c.?_?del? p.?fs*? Deletion - Frameshift Kidney COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM95561 ZMYM2 c.1484G>T p.C495F Substitution - Missense Lung COSM41900 TET2 c.? p.C1271* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1183555 ARID1B c.1640C>T p.P547L Substitution - Missense Large_intestine COSM304335 PRMT3 c.1217T>G p.V406G Substitution - Missense Large_intestine COSM5350690 EP300 c.7065G>T p.Q2355H Substitution - Missense Lung COSM36248 IDH1 c.? p.R132? Substitution - Missense Bone COSM4435410 SRCAP c.4515G>C p.L1505F Substitution - Missense Oesophagus COSM226595 STK31 c.814G>A p.D272N Substitution - Missense Skin COSM1679902 MYST2 c.1708G>C p.G570R Substitution - Missense Lung COSM4384622 KMT2A c.10487A>G p.E3496G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3962502 SP110 c.1563A>G p.E521E Substitution - coding silent Lung COSM320537 GABRG1 c.856G>C p.V286L Substitution - Missense Lung COSM380405 GTF3C1 c.663G>T p.L221L Substitution - coding silent Lung COSM332817 ARID1A c.1435C>T p.Q479* Substitution - Nonsense Lung COSM5676157 SP140_ENST00000392045 c.1825+1G>C p.? Unknown Soft_tissue COSM3736440 STK31 c.1868G>T p.S623I Substitution - Missense Large_intestine COSM254812 KMT2A c.11348C>G p.S3783C Substitution - Missense Urinary_tract COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Soft_tissue COSM5566348 BAZ2A_ENST00000379441 c.1694G>A p.R565H Substitution - Missense Prostate COSM1230629 TRRAP c.5C>T p.A2V Substitution - Missense Large_intestine COSM1351609 KMT2A c.2312delC p.P773fs*8 Deletion - Frameshift Liver COSM1057 SMARCB1 c.1148delC p.P383fs*>3 Deletion - Frameshift Central_nervous_system COSM1362053 KMT2D c.3576delC p.K1193fs*40 Deletion - Frameshift Large_intestine COSM1316905 KMT2D c.15422T>A p.L5141H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM4759324 PRDM13 c.2047G>A p.D683N Substitution - Missense Stomach COSM5910503 ATAT1 c.719G>A p.R240Q Substitution - Missense Skin COSM4574543 PHRF1 c.1791G>A p.A597A Substitution - coding silent Bone COSM5986659 KMT2D c.3838_3839delTG p.V1281fs*48 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM43510 TET2 c.3269_3269delA p.K1090fs*16 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1635198 KMT2C c.2185A>G p.N729D Substitution - Missense Lung COSM3505537 CHD2 c.2410C>T p.R804* Substitution - Nonsense Skin COSM3749667 MSH6 c.116G>A p.G39E Substitution - Missense Large_intestine COSM4541346 NCOR1 c.298G>A p.D100N Substitution - Missense Skin COSM205908 PRMT10 c.1847G>A p.R616H Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM5817099 HNF1A c.651C>A p.A217A Substitution - coding silent Liver COSM5455810 PHF2 c.2450C>A p.A817D Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM3664530 ATAD2B_ENST00000238789 c.1591G>T p.A531S Substitution - Missense Breast COSM25425 PHF3 c.2105C>T p.S702F Substitution - Missense Skin COSM4909833 NCOA7 c.463C>A p.L155I Substitution - Missense Liver COSM3627964 TDRD6 c.4618G>A p.D1540N Substitution - Missense Skin COSM1659585 PBRM1 c.3630_3644del15 p.F1210_V1215>L Complex - deletion inframe Kidney COSM4186059 MORF4L2 c.578T>C p.M193T Substitution - Missense Kidney COSM42028 TET2 c.3640C>T p.R1214W Substitution - Missense Large_intestine COSM1377479 SRCAP c.7304G>A p.R2435Q Substitution - Missense Large_intestine COSM435538 CTCF c.1294G>T p.E432* Substitution - Nonsense Breast COSM4619091 AP001011.3_ENST00000320876 c.1039G>A p.A347T Substitution - Missense Large_intestine COSM341550 TAF1L c.5455G>C p.E1819Q Substitution - Missense Lung COSM709521 SETBP1 c.2684A>G p.D895G Substitution - Missense Lung COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1456467 ELP3 c.198T>A p.P66P Substitution - coding silent Large_intestine COSM1682289 EP300 c.4751T>G p.L1584R Substitution - Missense Large_intestine COSM199116 CHD1 c.3566G>A p.R1189Q Substitution - Missense Stomach COSM1109607 KDM4C c.2412G>A p.Q804Q Substitution - coding silent Endometrium COSM144612 KMT2D c.11152C>T p.Q3718* Substitution - Nonsense Oesophagus COSM3176004 PHIP c.1202G>A p.S401N Substitution - Missense Large_intestine COSM41292 IDH1 c.? p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3357961 SHPRH c.1239G>A p.P413P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM43476 TET2 c.(2290_2292)insC p.Q764fs*5 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1080048 CDYL c.667G>A p.V223I Substitution - Missense Endometrium COSM1285405 HNF1A c.1692C>T p.T564T Substitution - coding silent Autonomic_ganglia COSM3842289 SMARCB1 c.91G>A p.E31K Substitution - Missense Breast COSM314410 PRDM9 c.2138C>G p.T713R Substitution - Missense Lung COSM1363736 CHD4 c.4409C>T p.P1470L Substitution - Missense Large_intestine COSM1606166 HDAC7 c.1187A>G p.E396G Substitution - Missense Liver COSM4591233 NCOR1 c.534G>C p.K178N Substitution - Missense Upper_aerodigestive_tract COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Central_nervous_system COSM110728 BAP1 c.812_821del10 p.I271fs*61 Deletion - Frameshift Eye COSM223920 L3MBTL4 c.1517C>T p.S506F Substitution - Missense Skin COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM468038 EP400 c.8229G>A p.Q2743Q Substitution - coding silent Central_nervous_system COSM3374571 KMT2C c.6016C>T p.H2006Y Substitution - Missense Thyroid COSM1447280 PHF14 c.2109C>G p.P703P Substitution - coding silent Large_intestine COSM1215014 MGA c.7333C>T p.R2445* Substitution - Nonsense Large_intestine COSM4101585 BRWD1 c.6093G>A p.R2031R Substitution - coding silent Stomach COSM1577289 ASXL1 c.? p.?fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM6018300 BRD1 c.2285C>T p.P762L Substitution - Missense Skin COSM347051 SETD1A c.437G>C p.R146P Substitution - Missense Lung COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3874537 TDRD6 c.5465A>G p.H1822R Substitution - Missense Stomach COSM1569944 KIAA2026_ENST00000399933 c.4392_4393insTGTA p.I1465fs*28 Insertion - Frameshift Large_intestine COSM5878961 TET2 c.1872delA p.T625fs*14 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4574900 KDM4D c.1113G>A p.A371A Substitution - coding silent Liver COSM1696222 KDM3B c.671C>T p.S224F Substitution - Missense Skin COSM478086 PHF20 c.1353G>A p.K451K Substitution - coding silent Kidney COSM110752 TET2 c.847G>T p.E283* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4184876 KMT2A c.2720C>A p.P907H Substitution - Missense Large_intestine COSM5413496 TRRAP c.4782C>T p.I1594I Substitution - coding silent Oesophagus COSM3694307 ZBTB33 c.591T>G p.F197L Substitution - Missense Large_intestine COSM3842010 AIRE c.1613G>A p.R538H Substitution - Missense Bone COSM1161914 KDM5C c.4213G>C p.E1405Q Substitution - Missense Kidney COSM5366217 BRWD1 c.1468G>C p.D490H Substitution - Missense Large_intestine COSM3359277 MTA2 c.1832A>T p.K611M Substitution - Missense Pancreas COSM326518 SMEK2 c.1228G>A p.D410N Substitution - Missense Lung COSM5813519 ASH1L c.3249A>T p.S1083S Substitution - coding silent Liver COSM5881178 ASXL1 c.1466delG p.I490fs*213 Deletion - Frameshift Soft_tissue COSM1334940 HDGF c.149delT p.F50fs*105 Deletion - Frameshift Stomach COSM3708667 KDM5C c.3868G>T p.G1290C Substitution - Missense Liver COSM1041032 PHC3 c.2754C>T p.I918I Substitution - coding silent Endometrium COSM906834 SMYD3 c.450C>T p.D150D Substitution - coding silent Endometrium COSM4880474 PRDM16 c.1251C>T p.A417A Substitution - coding silent Prostate COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1669120 KDM3A c.2188G>T p.A730S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1994683 AICDA c.166C>T p.H56Y Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716184 EZH2 c.? p.A682G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2006563 KMT2D c.15659_15660delAA p.K5220fs*21 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM123963 KIAA2026_ENST00000399933 c.701G>A p.R234Q Substitution - Missense Central_nervous_system COSM52858 PBRM1 c.236+-6delAGCGAAGGT p.? Unknown Kidney COSM4064169 NCOR1 c.1401G>A p.E467E Substitution - coding silent Stomach COSM1581873 TRRAP c.10942G>T p.A3648S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5019444 NSD1 c.3564G>C p.R1188S Substitution - Missense Soft_tissue COSM1065 SMARCB1 c.950delG p.G317fs*3 Deletion - Frameshift Soft_tissue COSM961511 MGA c.3985C>A p.P1329T Substitution - Missense Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3426560 SMEK2 c.855G>T p.E285D Substitution - Missense Large_intestine COSM164782 TAF3 c.1280C>G p.S427* Substitution - Nonsense Breast COSM5505664 SCMH1 c.468G>T p.G156G Substitution - coding silent Biliary_tract COSM1254840 INOC1 c.1888A>T p.S630C Substitution - Missense Oesophagus COSM3597979 SETD5_ENST00000402198 c.3779C>T p.S1260F Substitution - Missense Skin COSM1684721 SETBP1 c.? p.T873R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM215640 GTF3C1 c.4387G>A p.V1463I Substitution - Missense Central_nervous_system COSM439085 DOT1L c.1609C>G p.Q537E Substitution - Missense Breast COSM3867597 JMJD1C c.1720C>T p.P574S Substitution - Missense Skin COSM251076 PHC2 c.2393A>G p.D798G Substitution - Missense Liver COSM5452947 SMARCB1 c.326_327CT>GA p.A109G Substitution - Missense Large_intestine COSM1132261 ATRX c.4667T>C p.M1556T Substitution - Missense Prostate COSM487507 KDM4C c.90C>A p.N30K Substitution - Missense Kidney COSM5574186 DNMT3A c.1752C>A p.Y584* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3978051 RNF134 c.640G>C p.E214Q Substitution - Missense Lung COSM4825436 PHF8 c.203C>T p.S68F Substitution - Missense Cervix COSM3514719 SMYD4 c.238C>T p.Q80* Substitution - Nonsense Skin COSM5465451 SP110 c.518C>T p.S173L Substitution - Missense Large_intestine COSM1459707 PHF19 c.451G>A p.A151T Substitution - Missense Large_intestine COSM420999 ARID1B c.3928C>T p.Q1310* Substitution - Nonsense Urinary_tract COSM3189314 EZH1 c.573G>T p.E191D Substitution - Missense Large_intestine COSM4564972 SP110 c.1571_1572CC>TT p.T524I Substitution - Missense Skin COSM3153189 EP300 c.4981C>T p.Q1661* Substitution - Nonsense Large_intestine COSM697919 BAZ1A c.3252C>G p.L1084L Substitution - coding silent Lung COSM1685376 TET2 c.3803_3804insT p.E1268fs*32 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3830264 PHF1 c.938A>G p.K313R Substitution - Missense Breast COSM3890495 JMJD6 c.571C>T p.L191L Substitution - coding silent Skin COSM4040529 ATF7IP c.647C>A p.P216H Substitution - Missense Stomach COSM5563314 KMT2C c.4602G>A p.Q1534Q Substitution - coding silent Prostate COSM4426686 MTA1 c.1937G>A p.R646Q Substitution - Missense Oesophagus COSM5509398 EYA4 c.1815_1817delAGA p.E608delE Deletion - In frame Biliary_tract COSM3629173 PHF3 c.741T>C p.D247D Substitution - coding silent Skin COSM1644335 ARID1A c.5541_5542insG p.D1850fs*4 Insertion - Frameshift Large_intestine COSM3746938 PRDM16 c.444C>T p.S148S Substitution - coding silent Liver COSM3896558 ATAD2 c.1753C>T p.R585* Substitution - Nonsense Stomach COSM5449339 SUV420H2 c.601G>A p.V201M Substitution - Missense Large_intestine COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1004 SMARCB1 c.646G>T p.E216* Substitution - Nonsense Soft_tissue COSM4411435 CBX7 c.214_216AGA>G p.R72fs*43 Complex - frameshift Kidney COSM6002547 KAT2A c.1451C>T p.A484V Substitution - Missense Prostate COSM1127426 PRDM2 c.1387G>A p.A463T Substitution - Missense Prostate COSM254975 TDRD1 c.2866T>C p.Y956H Substitution - Missense Urinary_tract COSM4042369 KMT2D c.7903C>T p.R2635C Substitution - Missense Stomach COSM1137067 PBRM1 c.3699T>G p.C1233W Substitution - Missense Kidney COSM4846678 SND1 c.835C>T p.H279Y Substitution - Missense Cervix COSM3365340 SETD2 c.6020G>C p.R2007P Substitution - Missense Kidney COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4763218 BAZ2B c.6461G>A p.R2154K Substitution - Missense Stomach COSM5563434 CREBBP c.6626A>C p.Q2209P Substitution - Missense Prostate COSM5627118 TET2 c.4045-1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1754665 KDM1B c.1429C>T p.L477L Substitution - coding silent Urinary_tract COSM5829745 ACTR8 c.779-3_779-2insC p.? Unknown Large_intestine COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1104 SMARCB1 c.233-1G>C p.? Unknown Central_nervous_system COSM166531 DNMT3A c.1429G>T p.E477* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM937166 EP400 c.5496C>T p.H1832H Substitution - coding silent Endometrium COSM88025 SMARCA4 c.2729C>T p.T910M Substitution - Missense Kidney COSM13839 ATRX c.4192G>A p.D1398N Substitution - Missense Skin COSM1188634 SETD1B c.1006A>C p.T336P Substitution - Missense Lung COSM4152825 KDM5A c.774A>T p.K258N Substitution - Missense Kidney COSM475425 TRIM28 c.1329G>A p.M443I Substitution - Missense Kidney COSM255240 GABRG1 c.143C>T p.T48M Substitution - Missense Upper_aerodigestive_tract COSM3618961 CHD1 c.1747C>T p.R583W Substitution - Missense Skin COSM4714012 PHF3 c.3546G>A p.T1182T Substitution - coding silent Large_intestine COSM1169367 ATRX c.3971C>A p.S1324* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM975869 NCOR1 c.4600C>T p.P1534S Substitution - Missense Endometrium COSM1249110 CREBBP c.6452G>A p.R2151Q Substitution - Missense Oesophagus COSM6005556 MEN1 c.293G>A p.R98Q Substitution - Missense Prostate COSM5985491 ATRX c.5845G>T p.D1949Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM255015 KDM6A c.378C>G p.Y126* Substitution - Nonsense Urinary_tract COSM4845085 CHD9 c.3847C>G p.Q1283E Substitution - Missense Cervix COSM4746287 SETD5_ENST00000402198 c.2679delA p.S894fs*27 Deletion - Frameshift Central_nervous_system COSM1394330 UHRF1 c.2014_2015insC p.P674fs*35 Insertion - Frameshift Central_nervous_system COSM1192753 CBX5 c.317delA p.K106fs*31 Deletion - Frameshift Large_intestine COSM1307614 DIDO1 c.1511C>T p.S504L Substitution - Missense Urinary_tract COSM5900429 EP300 c.6628C>T p.Q2210* Substitution - Nonsense Skin COSM4923661 MEN1 c.715A>G p.M239V Substitution - Missense Liver COSM4912756 PHF8 c.1317G>A p.L439L Substitution - coding silent Liver COSM388596 TAF1 c.3705G>A p.K1235K Substitution - coding silent Lung COSM132975 ASXL1 c.? p.L775* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM1681631 NCOA6 c.5788G>A p.V1930I Substitution - Missense Lung COSM1746393 MTA2 c.188C>T p.A63V Substitution - Missense Urinary_tract COSM5816802 KMT2A c.2371G>T p.A791S Substitution - Missense Liver COSM4186507 SRCAP c.5173G>T p.V1725L Substitution - Missense Kidney COSM4733311 TFPT c.577C>T p.R193W Substitution - Missense Large_intestine COSM5019255 ARID1B c.1504A>G p.I502V Substitution - Missense Soft_tissue COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM3737144 SMARCD3 c.631_636delGTTGAG p.V211_E212delVE Deletion - In frame Soft_tissue COSM289041 TDRD6 c.2078C>T p.T693M Substitution - Missense Large_intestine COSM1457696 CHD7 c.1947delA p.D652fs*59 Deletion - Frameshift Large_intestine COSM4754927 PHF11 c.329G>A p.C110Y Substitution - Missense Stomach COSM3440612 KAT6B c.3489A>C p.S1163S Substitution - coding silent Skin COSM3802249 HDGF c.87+2T>G p.? Unknown Breast COSM3667314 TRIM33 c.3047A>T p.Q1016L Substitution - Missense Liver COSM1256216 L3MBTL4 c.1188G>T p.S396S Substitution - coding silent Oesophagus COSM3434288 TDRD1 c.792G>A p.M264I Substitution - Missense Skin COSM3419154 ZMYM1 c.286C>A p.L96I Substitution - Missense Large_intestine COSM5708975 TET2 c.5582G>A p.G1861E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41877 IDH2 c.418C>T p.R140W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1704990 ING4 c.446C>T p.S149L Substitution - Missense Large_intestine COSM3818061 BRD7 c.1334T>G p.I445S Substitution - Missense Breast COSM1051852 PRMT10 c.2086G>A p.V696M Substitution - Missense Endometrium COSM4641808 RBBP4 c.165A>G p.R55R Substitution - coding silent Large_intestine COSM3294859 ZMYND8 c.2481G>A p.P827P Substitution - coding silent Breast COSM1466694 HCFC1 c.2531C>T p.A844V Substitution - Missense Large_intestine COSM700500 TP53BP1 c.1216C>T p.Q406* Substitution - Nonsense Lung COSM4008567 RAD54L c.606C>T p.R202R Substitution - coding silent Stomach COSM211751 TET2 c.5711A>G p.H1904R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4130813 BAHCC1 c.3736G>A p.G1246R Substitution - Missense Thyroid COSM1235383 BAP1 c.790_790delA p.R264fs*2 Deletion - Frameshift Eye COSM693639 KMT2D c.400+1G>A p.? Unknown Liver COSM969272 GTF3C1 c.820G>T p.E274* Substitution - Nonsense Endometrium COSM4669569 CBX5 c.454C>T p.L152F Substitution - Missense Large_intestine COSM5387625 BAHCC1 c.396C>T p.S132S Substitution - coding silent Skin COSM129887 TIF1 c.2218G>C p.E740Q Substitution - Missense Upper_aerodigestive_tract COSM5148126 MPHOSPH8 c.1636G>A p.E546K Substitution - Missense Large_intestine COSM5473998 ASXL3 c.1752A>G p.L584L Substitution - coding silent Large_intestine COSM758295 BRWD3 c.88C>T p.Q30* Substitution - Nonsense Lung COSM3485391 KDM1A c.456C>T p.P152P Substitution - coding silent Skin COSM1735694 KMT2D c.? p.? Substitution - Missense Central_nervous_system COSM1315902 BAZ2B c.3974A>G p.K1325R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5702939 ARID2 c.3985G>A p.E1329K Substitution - Missense Autonomic_ganglia COSM5385787 SMYD4 c.344_345CC>TT p.A115V Substitution - Missense Skin COSM2911501 NCOA1 c.4164A>G p.Q1388Q Substitution - coding silent Upper_aerodigestive_tract COSM1180774 KDM5A c.3597delA p.G1200fs*9 Deletion - Frameshift Large_intestine COSM2183627 POGZ c.1505G>A p.R502K Substitution - Missense Large_intestine COSM1041423 TBL1XR1 c.257C>A p.A86D Substitution - Missense Endometrium COSM4678920 DNMT3L c.568G>C p.V190L Substitution - Missense Large_intestine COSM1238995 GLYR1 c.1017+1G>A p.? Unknown Oesophagus COSM3912166 PRDM15 c.1773C>T p.S591S Substitution - coding silent Skin COSM1704822 PRDM10 c.2777C>T p.S926L Substitution - Missense Skin COSM1075268 JARID2 c.3358G>A p.A1120T Substitution - Missense Endometrium COSM4777507 CREBBP c.6569G>A p.R2190Q Substitution - Missense Breast COSM1027506 EYA2 c.908G>A p.R303H Substitution - Missense Stomach COSM1087499 KMT2C c.14549C>T p.S4850L Substitution - Missense Skin COSM1432776 LMNB1 c.1026_1027delAG p.E345fs*14 Deletion - Frameshift Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM133055 EZH2 c.625+1G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1708080 TP53BP1 c.2489C>T p.S830F Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4165907 KAT5 c.1468T>C p.S490P Substitution - Missense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2777604 KIAA2026_ENST00000399933 c.2069_2070insA p.K691fs*8 Insertion - Frameshift Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4978853 KAT2B c.2327G>A p.R776H Substitution - Missense Oesophagus COSM6014689 KMT2A c.8989G>A p.G2997R Substitution - Missense Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3814730 BAZ1A c.1014G>T p.K338N Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4892598 L3MBTL4 c.1588C>T p.P530S Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3736439 STK31 c.1863T>G p.N621K Substitution - Missense Skin COSM41646 TET2 c.? p.R2000K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4755394 CHD9 c.5387A>T p.N1796I Substitution - Missense Stomach COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM23304 HDAC4 c.973G>A p.A325T Substitution - Missense Skin COSM4839655 ZMYM3 c.46C>A p.P16T Substitution - Missense Cervix COSM2077915 HDAC1 c.232T>C p.S78P Substitution - Missense Large_intestine COSM1686526 EYA4 c.1739-1G>A p.? Unknown Skin COSM4777670 CHD2 c.4173_4174insA p.Q1392fs*17 Insertion - Frameshift Prostate COSM37032 EZH2 c.1937A>G p.Y646C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5990090 ASXL1 c.2893delC p.R965fs*19 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4701402 MECP2 c.754G>A p.G252S Substitution - Missense Large_intestine COSM1300447 MTA1 c.1691C>T p.T564M Substitution - Missense Urinary_tract COSM3053508 SMEK2 c.321G>A p.V107V Substitution - coding silent Upper_aerodigestive_tract COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM5599298 CHD6 c.7853C>T p.S2618F Substitution - Missense Skin COSM5756080 SMEK2 c.283G>A p.E95K Substitution - Missense Large_intestine COSM5357478 RING1 c.516G>T p.G172G Substitution - coding silent Large_intestine COSM216735 SHPRH c.2394G>A p.Q798Q Substitution - coding silent Pancreas COSM4767627 KMT2C c.3520C>T p.Q1174* Substitution - Nonsense Biliary_tract COSM894175 TRIM33 c.2865G>A p.A955A Substitution - coding silent Endometrium COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3968227 ARID2 c.1135G>C p.G379R Substitution - Missense Central_nervous_system COSM5708933 SETD5_ENST00000402198 c.2047_2060del14 p.S683fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85924 DAXX c.925_926insAGT p.L309>QF Complex - insertion inframe Pancreas COSM4340380 ZMYM3 c.619C>T p.Q207* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM149089 SP110 c.383C>T p.A128V Substitution - Missense Prostate COSM5019110 MECOM c.2472G>A p.S824S Substitution - coding silent Soft_tissue COSM161113 FMR1 c.578G>A p.R193H Substitution - Missense Breast COSM5833240 RAI1 c.4511_4512insG p.L1506fs*49 Insertion - Frameshift Breast COSM725219 SETD4 c.1255A>T p.T419S Substitution - Missense Lung COSM1071550 CHD1 c.3117T>A p.N1039K Substitution - Missense Endometrium COSM5615137 KDM3A c.2425A>T p.S809C Substitution - Missense Lung COSM4593941 L3MBTL2 c.697G>C p.A233P Substitution - Missense Soft_tissue COSM5824086 KMT2A c.4854C>T p.A1618A Substitution - coding silent Liver COSM4412985 ARID1A c.5138T>A p.L1713Q Substitution - Missense Oesophagus COSM919477 JMJD1C c.4031A>C p.K1344T Substitution - Missense Endometrium COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34211 ASXL1 c.2285_2286insT p.L762fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM36205 ASXL1 c.3306G>T p.E1102D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM51458 ARID1A c.6001_6002insCA p.M2001fs*15 Insertion - Frameshift Ovary COSM51431 ARID1A c.805C>T p.Q269* Substitution - Nonsense Ovary COSM82375 SMARCA4 c.1839C>T p.S613S Substitution - coding silent Ovary COSM112121 PRDM2 c.2104_2105insCTC p.P703_A704insP Insertion - In frame Large_intestine COSM130413 ARID1A c.2830C>T p.Q944* Substitution - Nonsense Breast COSM144545 TET2 c.5216G>T p.R1739I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM231571 DNMT3A c.1502A>G p.N501S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM240451 L3MBTL2 c.2002G>A p.E668K Substitution - Missense Prostate COSM255297 KMT2D c.1510_1511insT p.S504fs*5 Insertion - Frameshift Central_nervous_system COSM275030 EZH2 c.2173G>A p.E725K Substitution - Missense Large_intestine COSM276885 PRDM5 c.1156G>A p.A386T Substitution - Missense Large_intestine COSM297219 AICDA c.231C>T p.R77R Substitution - coding silent Oesophagus COSM309270 ARID4A c.2551A>G p.K851E Substitution - Missense Soft_tissue COSM320203 EZH2 c.118A>T p.S40C Substitution - Missense Lung COSM353615 TDRD7 c.11G>T p.G4V Substitution - Missense Lung COSM348955 ARID4A c.2260C>T p.P754S Substitution - Missense Lung COSM365177 EPC2 c.313C>T p.P105S Substitution - Missense Lung COSM433179 ARID4A c.3109C>G p.Q1037E Substitution - Missense Breast COSM443328 KDM3A c.2279T>G p.L760R Substitution - Missense Breast COSM464497 ZMYM4 c.3651G>A p.W1217* Substitution - Nonsense Thyroid COSM941782 BAZ2A c.1765C>T p.R589C Substitution - Missense Skin COSM1028992 DIDO1 c.1622C>T p.A541V Substitution - Missense Endometrium COSM936097 SETD1B c.1937G>A p.R646H Substitution - Missense Endometrium COSM745853 KMT2C c.3421C>T p.P1141S Substitution - Missense Upper_aerodigestive_tract COSM754404 KIAA2026_ENST00000399933 c.4485G>A p.A1495A Substitution - coding silent Lung COSM704905 NCOR1 c.2602G>T p.A868S Substitution - Missense Lung COSM723105 DNMT3B c.1088G>A p.R363H Substitution - Missense Lung COSM908301 HDAC1 c.1397_1399delAGG p.E468delE Deletion - In frame Large_intestine COSM896926 ASH1L c.4457G>A p.R1486H Substitution - Missense Endometrium COSM894485 TTF2 c.732T>G p.S244R Substitution - Missense Endometrium COSM924942 PRDM10 c.3103_3105delCAG p.Q1035delQ Deletion - In frame Endometrium COSM990744 SMARCA4 c.2298G>A p.V766V Substitution - coding silent Endometrium COSM989450 L3MBTL4 c.1390A>C p.K464Q Substitution - Missense Endometrium COSM961205 BAHD1 c.786G>T p.Q262H Substitution - Missense Endometrium COSM1071551 CHD1 c.2609G>T p.G870V Substitution - Missense Endometrium COSM1067095 PRDM9 c.2516G>A p.R839Q Substitution - Missense Large_intestine COSM1075349 ARID1B c.3836C>T p.T1279M Substitution - Missense Prostate COSM1060222 LMNB1 c.675G>A p.T225T Substitution - coding silent Large_intestine COSM1128635 ATF7IP c.2863-1G>T p.? Unknown Prostate COSM1107178 EHMT1 c.2094G>A p.S698S Substitution - coding silent Endometrium COSM1101408 NCOA2 c.3742C>T p.R1248* Substitution - Nonsense Endometrium COSM1228425 TAF1L c.4348C>T p.R1450C Substitution - Missense Large_intestine COSM1232732 WHSC1 c.310G>A p.E104K Substitution - Missense Large_intestine COSM1184975 BRWD1 c.4940A>G p.E1647G Substitution - Missense Large_intestine COSM1606534 CHD4 c.687G>T p.A229A Substitution - coding silent Liver COSM1606534 CHD4 c.687G>T p.A229A Substitution - coding silent Liver COSM1305685 MBD5 c.400G>C p.A134P Substitution - Missense Urinary_tract COSM1299655 SMARCC2 c.1556G>A p.R519Q Substitution - Missense Urinary_tract COSM1303445 CHD3 c.2328C>T p.Y776Y Substitution - coding silent Urinary_tract COSM1270995 ZMYM6 c.1282C>T p.L428F Substitution - Missense Oesophagus COSM1316523 ATRX c.7037G>T p.R2346M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1321980 BTAF1 c.328A>G p.R110G Substitution - Missense Ovary COSM1388396 AP001011.3_ENST00000320876 c.4721G>A p.S1574N Substitution - Missense Large_intestine COSM1387384 CHD3 c.5786C>T p.P1929L Substitution - Missense Large_intestine COSM1429112 WHSC1 c.4021delC p.P1343fs*>23 Deletion - Frameshift Large_intestine COSM1437262 NIPBL c.1801delA p.K603fs*11 Deletion - Frameshift Large_intestine COSM1341910 PHC2 c.396G>A p.P132P Substitution - coding silent Large_intestine COSM1357121 RSF1 c.2988G>T p.K996N Substitution - Missense Large_intestine COSM1342663 SCMH1 c.1672C>T p.L558L Substitution - coding silent Large_intestine COSM1685361 SETBP1 c.2612T>G p.I871S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1610667 BPTF c.6530G>C p.G2177A Substitution - Missense Liver COSM1629891 CREBBP c.576C>G p.N192K Substitution - Missense Liver COSM1667386 ZMYM1 c.1443G>C p.Q481H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1640803 ZBTB4 c.2772C>T p.L924L Substitution - coding silent Cervix COSM1671035 CLOCK c.395T>C p.I132T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1698982 TRRAP c.7556C>T p.A2519V Substitution - Missense Skin COSM1737163 BMI1 c.571-1G>A p.? Unknown Central_nervous_system COSM1726101 CREBBP c.5399G>A p.R1800Q Substitution - Missense Skin COSM1747696 PRDM2 c.2637G>C p.K879N Substitution - Missense Urinary_tract COSM1755451 TRRAP c.4381G>C p.D1461H Substitution - Missense Urinary_tract COSM1732590 TRRAP c.9880G>A p.D3294N Substitution - Missense Soft_tissue COSM1746977 ARID2 c.103A>T p.K35* Substitution - Nonsense Urinary_tract COSM1756792 MBD6 c.2293C>T p.P765S Substitution - Missense Urinary_tract COSM2848372 GABRG1 c.1157C>A p.S386Y Substitution - Missense Liver COSM3153131 EP300 c.3135G>T p.K1045N Substitution - Missense Large_intestine COSM3153235 EP300 c.6963_6964insC p.H2324fs*55 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3296181 MBD5 c.2418C>A p.S806S Substitution - coding silent Upper_aerodigestive_tract COSM3389196 UHRF1 c.652C>A p.R218R Substitution - coding silent Pancreas COSM3396082 BAZ2A_ENST00000379441 c.4578G>T p.Q1526H Substitution - Missense Prostate COSM3463829 MBD6 c.1070C>T p.S357L Substitution - Missense Skin COSM3630865 ACTL6B c.647C>T p.P216L Substitution - Missense Skin COSM3547359 ZMYND8 c.1334C>T p.S445F Substitution - Missense Skin COSM3561984 HDAC6 c.2884C>T p.L962L Substitution - coding silent Skin COSM3531614 DOT1L c.4370C>T p.S1457F Substitution - Missense Skin COSM3523251 CHD3 c.1687T>C p.S563P Substitution - Missense Skin COSM3528092 DNMT1 c.4246-1G>A p.? Unknown Skin COSM3663544 ATAD2 c.2138T>C p.V713A Substitution - Missense Liver COSM3704145 ARID2 c.1691C>T p.S564L Substitution - Missense Liver COSM3750412 LMNA c.1698C>T p.H566H Substitution - coding silent Thyroid COSM3794536 CHD2 c.3741C>G p.C1247W Substitution - Missense Urinary_tract COSM3792142 PRDM4 c.833A>T p.N278I Substitution - Missense Urinary_tract COSM3864235 RBBP5 c.919C>T p.R307* Substitution - Nonsense Skin COSM3825656 WHSC1 c.760+2T>C p.? Unknown Breast COSM3844240 SCML2 c.1670C>T p.P557L Substitution - Missense Breast COSM3883764 TRRAP c.8895C>T p.D2965D Substitution - coding silent Large_intestine COSM3900243 MYST3 c.3244A>C p.R1082R Substitution - coding silent Stomach COSM3885127 RNF17 c.1827G>A p.M609I Substitution - Missense Skin COSM3886949 MGA c.9116C>T p.A3039V Substitution - Missense Skin COSM4021564 PRDM2 c.4512T>C p.S1504S Substitution - coding silent Stomach COSM4085342 MBD5 c.2305G>A p.V769I Substitution - Missense Stomach COSM4098444 CHD6 c.6013G>C p.E2005Q Substitution - Missense Stomach COSM4058033 CHD2 c.3360G>A p.P1120P Substitution - coding silent Stomach COSM41878 TET2 c.1147C>T p.Q383* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4185614 MGA c.7637G>A p.R2546Q Substitution - Missense Kidney COSM4215752 TDRD3 c.939T>A p.D313E Substitution - Missense Oesophagus COSM4484084 DNMT1 c.2721C>T p.I907I Substitution - coding silent Skin COSM4540097 PHF20 c.2788G>A p.G930R Substitution - Missense Skin COSM4437756 JMJD1C c.727A>G p.I243V Substitution - Missense Oesophagus COSM4591270 KMT2C c.2512G>A p.G838S Substitution - Missense Upper_aerodigestive_tract COSM4492376 DNMT3B c.360C>T p.S120S Substitution - coding silent Skin COSM4411013 PBRM1 c.2354T>G p.L785R Substitution - Missense Kidney COSM4717527 PRDM9 c.1958C>G p.T653S Substitution - Missense Large_intestine COSM4685175 FMR1 c.1785A>G p.L595L Substitution - coding silent Large_intestine COSM4728435 SMCHD1 c.2226G>T p.P742P Substitution - coding silent Large_intestine COSM4672114 CHD9 c.4161delA p.T1389fs*29 Deletion - Frameshift Large_intestine COSM4767350 TET2 c.2578_2609del32 p.Q860fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4798810 SETD2 c.1017A>G p.T339T Substitution - coding silent Liver COSM4801288 MECOM c.1033C>T p.Q345* Substitution - Nonsense Liver COSM4793036 BPTF c.5553A>G p.P1851P Substitution - coding silent Liver COSM4881452 JMJD5 c.292G>T p.G98C Substitution - Missense Upper_aerodigestive_tract COSM4912860 ARID1B c.4273A>G p.I1425V Substitution - Missense Liver COSM4849102 NSD1 c.2201A>G p.K734R Substitution - Missense Cervix COSM4826262 PHF8 c.1249G>A p.E417K Substitution - Missense Cervix COSM4987204 NSD1 c.1840G>T p.V614L Substitution - Missense Soft_tissue COSM4982812 MYST3 c.525C>T p.N175N Substitution - coding silent Oesophagus COSM5034210 EHMT2 c.418T>A p.S140T Substitution - Missense Skin COSM5021081 KDM6B c.3795C>A p.I1265I Substitution - coding silent Soft_tissue COSM5031133 PHIP c.380C>T p.A127V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5206185 NCOR1 c.4951+2T>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5221791 MTA2 c.129_130delCT p.C44fs*9 Deletion - Frameshift Breast COSM5046141 TDRKH c.115G>A p.E39K Substitution - Missense Oesophagus COSM5409832 EYA1 c.1708C>T p.P570S Substitution - Missense Skin COSM5362089 RNF17 c.936-1G>T p.? Unknown Large_intestine COSM5400253 TET2 c.839C>T p.S280F Substitution - Missense Skin COSM5377617 TDRKH c.1156C>T p.L386F Substitution - Missense Skin COSM5518196 TDRKH c.235C>T p.R79W Substitution - Missense Biliary_tract COSM5425835 FXR1 c.468A>T p.A156A Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5439929 EP300 c.1965G>C p.Q655H Substitution - Missense Oesophagus COSM5436888 BRWD3 c.3370G>A p.E1124K Substitution - Missense Oesophagus COSM5440853 KMT2D c.3472G>T p.E1158* Substitution - Nonsense Oesophagus COSM5422987 KAT6B c.4156_4157insA p.S1387fs*21 Insertion - Frameshift Prostate COSM5724322 SMARCA4 c.233C>T p.S78F Substitution - Missense Skin COSM5728506 SETBP1 c.2928C>T p.F976F Substitution - coding silent Skin COSM5722748 SETBP1 c.3739G>A p.E1247K Substitution - Missense Skin COSM5578694 HDAC9 c.2182_2185delTTTT p.F729fs*44 Deletion - Frameshift Skin COSM5600338 RAI1 c.5001C>T p.S1667S Substitution - coding silent Skin COSM5606580 GLYR1 c.1498C>A p.L500M Substitution - Missense Skin COSM5611066 TRRAP c.4150G>C p.E1384Q Substitution - Missense Skin COSM5692974 SHPRH c.2455G>C p.D819H Substitution - Missense Soft_tissue COSM5714269 ACTB c.141G>C p.M47I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5563223 ARID1B c.192G>A p.Q64Q Substitution - coding silent Prostate COSM5775431 TAF1 c.3835T>C p.C1279R Substitution - Missense Breast COSM5794016 POGZ c.3518T>A p.L1173Q Substitution - Missense Breast COSM5878860 DNMT3A c.992_993insT p.G332fs*11 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5804513 PHF3 c.4521A>T p.I1507I Substitution - coding silent Liver COSM5922527 L3MBTL3 c.2200-3T>C p.? Unknown Skin COSM5938566 ARID1A c.4769C>T p.P1590L Substitution - Missense Skin COSM5886570 ASH2L c.1774C>T p.R592C Substitution - Missense Skin COSM5912963 TAF1L c.3707G>A p.R1236Q Substitution - Missense Skin COSM6005322 MSL3 c.60C>T p.F20F Substitution - coding silent Prostate COSM6006418 KMT2C c.7465C>T p.H2489Y Substitution - Missense Central_nervous_system COSM5970467 TDG c.673C>T p.R225* Substitution - Nonsense Upper_aerodigestive_tract COSM52791 PBRM1 c.2154_2156delCCA p.Y718_Q719>* Complex - deletion inframe Kidney COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM5945799 BAP1 c.? p.R610fs*7 Frameshift Pleura COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM303909 IKZF1 c.?_?del? p.?fs Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3734736 ARID1A c.? p.V661fs*15 Frameshift Urinary_tract COSM4111273 BRWD3 c.568C>T p.R190* Substitution - Nonsense Stomach COSM970612 CREBBP c.775G>A p.A259T Substitution - Missense Stomach COSM3417978 PRDM2 c.299G>A p.R100Q Substitution - Missense Large_intestine COSM1413018 DIDO1 c.3627C>T p.D1209D Substitution - coding silent Large_intestine COSM5648450 SMARCD1 c.886G>C p.E296Q Substitution - Missense Oesophagus COSM5044522 L3MBTL2 c.1475A>T p.K492M Substitution - Missense Kidney COSM1749386 CHD2 c.2142A>T p.E714D Substitution - Missense Urinary_tract COSM96533 IDH1 c.399T>A p.H133Q Substitution - Missense Thyroid COSM1965064 KAT6B c.104C>T p.A35V Substitution - Missense Stomach COSM3674880 KMT2C c.2892C>T p.G964G Substitution - coding silent Prostate COSM1007 SMARCB1 c.543_544delTC p.S181fs*29 Deletion - Frameshift Soft_tissue COSM5976978 TDRD7 c.3079G>T p.V1027L Substitution - Missense Upper_aerodigestive_tract COSM5773502 MSH6 c.899G>A p.R300Q Substitution - Missense Breast COSM2078399 PRDM16 c.1525G>A p.A509T Substitution - Missense Stomach COSM4498909 KMT2D c.4495C>T p.P1499S Substitution - Missense Skin COSM1638611 JMJD1C c.3694A>G p.S1232G Substitution - Missense Stomach COSM5688317 BRWD3 c.109G>T p.E37* Substitution - Nonsense Soft_tissue COSM1377845 CREBBP c.3505C>T p.R1169C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1265385 SFMBT2 c.2049C>T p.S683S Substitution - coding silent Oesophagus COSM4728332 SMARCC2 c.2771G>T p.R924M Substitution - Missense Large_intestine COSM1034991 PHF21B c.261C>T p.G87G Substitution - coding silent Endometrium COSM5958598 KDM4A c.1114G>A p.E372K Substitution - Missense Thyroid COSM1023488 KDM3A c.505G>T p.E169* Substitution - Nonsense Endometrium COSM333228 DPF2 c.899G>C p.R300P Substitution - Missense Lung COSM3859964 ARID1B c.1591G>A p.V531M Substitution - Missense Stomach COSM2819132 PRDM15 c.1575G>T p.A525A Substitution - coding silent Large_intestine COSM5991310 KMT2C c.14624G>A p.R4875K Substitution - Missense Prostate COSM1676176 DPF2 c.184C>T p.R62W Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3702949 KDM1B c.736A>C p.K246Q Substitution - Missense Liver COSM3717733 CBX2 c.410G>A p.R137H Substitution - Missense Large_intestine COSM117387 JARID2 c.1670T>G p.I557S Substitution - Missense Ovary COSM471710 CREBBP c.4668A>G p.L1556L Substitution - coding silent Kidney COSM1659919 PBRM1 c.3968_3977del10 p.D1323fs*58 Deletion - Frameshift Kidney COSM3598868 TET2 c.3205A>G p.T1069A Substitution - Missense Skin COSM3845020 SMC1A c.2796C>T p.A932A Substitution - coding silent Breast COSM456389 MORF4L2 c.834G>T p.V278V Substitution - coding silent Breast COSM1331942 SCML2 c.1623A>G p.S541S Substitution - coding silent Ovary COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM1605660 HNF1A c.1767A>G p.T589T Substitution - coding silent Liver COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM5498709 BRWD3 c.814-5_814-4delTT p.? Unknown Biliary_tract COSM3204163 PHC3 c.190T>C p.Y64H Substitution - Missense Large_intestine COSM5424838 EP300 c.3501+2T>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM915005 TDRD1 c.35G>T p.R12I Substitution - Missense Endometrium COSM345414 RUVBL1 c.405C>T p.V135V Substitution - coding silent Lung COSM1688723 ASH1L c.2314C>T p.H772Y Substitution - Missense Skin COSM908625 ZMYM6 c.1097C>T p.S366L Substitution - Missense Endometrium COSM1245465 ARID4A c.1268A>G p.D423G Substitution - Missense Stomach COSM3749702 ACTR5 c.18C>T p.F6F Substitution - coding silent Large_intestine COSM4459308 HNF1A c.111C>T p.L37L Substitution - coding silent Skin COSM1642642 HDAC3 c.273C>T p.G91G Substitution - coding silent Stomach COSM3995491 HDAC9 c.178C>T p.Q60* Substitution - Nonsense Kidney COSM3656860 TAF1L c.2130G>A p.M710I Substitution - Missense Skin COSM4664640 ATRX c.672G>A p.A224A Substitution - coding silent Large_intestine COSM1732055 PBRM1 c.1747G>T p.E583* Substitution - Nonsense Kidney COSM3707845 ADNP c.332A>G p.Y111C Substitution - Missense Liver COSM4990258 KMT2D c.6199_6200delCA p.Q2067fs*39 Deletion - Frameshift Skin COSM3379860 HAT1 c.704G>A p.R235Q Substitution - Missense Pancreas COSM148505 DNMT1 c.290A>G p.H97R Substitution - Missense Stomach COSM5825721 SETD1B c.1280_1284delAGCCA p.Q427fs*17 Deletion - Frameshift Large_intestine COSM5621357 NCOA2 c.1844C>T p.P615L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1342909 KDM4A c.3087T>A p.I1029I Substitution - coding silent Large_intestine COSM734380 GABRG1 c.1303C>T p.R435C Substitution - Missense Lung COSM1002777 TRIM28 c.673G>A p.D225N Substitution - Missense Endometrium COSM5402194 KDM3B c.3888C>T p.L1296L Substitution - coding silent Skin COSM274532 CHD3 c.2896C>T p.R966W Substitution - Missense Skin COSM1665521 KAT2A c.762delG p.M254fs*166 Deletion - Frameshift Kidney COSM4954934 ASH1L c.4080G>T p.M1360I Substitution - Missense Liver COSM1632860 ZBTB38 c.639_640insC p.V215fs*16 Insertion - Frameshift Liver COSM335422 SRCAP c.592A>G p.M198V Substitution - Missense Lung COSM2961650 MYST3 c.5772C>T p.S1924S Substitution - coding silent Upper_aerodigestive_tract COSM3934733 SCMH1 c.472C>T p.R158* Substitution - Nonsense Oesophagus COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1732083 PBRM1 c.2779+1G>T p.? Unknown Kidney COSM5752436 MEN1 c.1015_1022delCAGGCCTG p.Q339fs*25 Deletion - Frameshift Breast COSM1233533 ZMYM4 c.4594G>A p.E1532K Substitution - Missense Large_intestine COSM5366858 SCML2 c.310A>C p.N104H Substitution - Missense Large_intestine COSM1730868 KMT2C c.4249G>A p.A1417T Substitution - Missense Liver COSM51461 ARID1A c.2290_2291insC p.Q766fs*51 Insertion - Frameshift Large_intestine COSM29150 KDM6A c.3220A>G p.R1074G Substitution - Missense Kidney COSM3752795 TRIM66 c.75G>A p.L25L Substitution - coding silent Large_intestine COSM3153256 L3MBTL2 c.799G>A p.V267I Substitution - Missense Large_intestine COSM5510052 BRD9 c.1377C>T p.N459N Substitution - coding silent Biliary_tract COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5754648 SMEK1 c.1125A>G p.T375T Substitution - coding silent Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1254010 HDAC4 c.2083C>T p.R695W Substitution - Missense Stomach COSM4965874 NSD1 c.7652C>A p.P2551Q Substitution - Missense Pancreas COSM679029 KDM1A c.1522C>G p.H508D Substitution - Missense Lung COSM1731191 DNMT3A c.2254T>G p.F752V Substitution - Missense Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1183567 ARID2 c.2495C>A p.S832* Substitution - Nonsense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4909684 GTF3C1 c.609-2A>T p.? Unknown Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5653191 HCFC1 c.3482G>C p.C1161S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4034381 PHRF1 c.1009C>T p.R337W Substitution - Missense Stomach COSM5599929 MGA c.4643C>T p.S1548F Substitution - Missense Skin COSM4584411 SMARCC1 c.862G>A p.D288N Substitution - Missense Bone COSM41217 TET2 c.3965_3966insA p.E1323fs*16 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3411242 PHF3 c.3527A>T p.Q1176L Substitution - Missense Central_nervous_system COSM3818897 NCOR1 c.277C>T p.H93Y Substitution - Missense Breast COSM87783 KAT2B c.409C>T p.R137W Substitution - Missense Large_intestine COSM2995145 CTCF c.1074C>T p.Y358Y Substitution - coding silent Upper_aerodigestive_tract COSM1449384 KMT2C c.12586_12587delCA p.Q4196fs*6 Deletion - Frameshift Large_intestine COSM3901331 PRDM14 c.101C>T p.P34L Substitution - Missense Stomach COSM131339 NIPBL c.3773C>T p.S1258L Substitution - Missense Liver COSM1587495 ARID4A c.3G>T p.M1I Substitution - Missense Endometrium COSM304414 PHC1 c.863A>G p.H288R Substitution - Missense Large_intestine COSM5794111 ARID2 c.3500C>T p.T1167I Substitution - Missense Breast COSM3048238 SP110 c.1531G>A p.A511T Substitution - Missense Stomach COSM5718244 MTA1 c.536A>C p.D179A Substitution - Missense Skin COSM1200635 CDYL2 c.1210G>A p.V404I Substitution - Missense Large_intestine COSM4905017 NCOA1 c.4278C>T p.T1426T Substitution - coding silent Skin COSM4015116 JMJD1C c.3212A>G p.H1071R Substitution - Missense Stomach COSM2720079 CHD7 c.181C>T p.Q61* Substitution - Nonsense Breast COSM5548056 ATAD2 c.932-3delT p.? Unknown Prostate COSM3963950 SETD4 c.1270A>G p.I424V Substitution - Missense Lung COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5374391 HNF1A c.234G>A p.G78G Substitution - coding silent Skin COSM1406747 ATAD2B_ENST00000238789 c.920delA p.K307fs*57 Deletion - Frameshift Large_intestine COSM4717487 PRDM16 c.1176G>T p.K392N Substitution - Missense Large_intestine COSM1049152 BRPF1 c.3192C>T p.G1064G Substitution - coding silent Large_intestine COSM4029671 KDM1A c.1641A>G p.S547S Substitution - coding silent Stomach COSM1159410 CREBBP c.1216G>C p.V406L Substitution - Missense Pancreas COSM4042127 HDAC7 c.1965T>C p.R655R Substitution - coding silent Stomach COSM1462646 KIAA2026_ENST00000399933 c.3824G>A p.R1275K Substitution - Missense Large_intestine COSM4618381 BRPF1 c.2595T>C p.D865D Substitution - coding silent Large_intestine COSM2260283 MTF2 c.1194G>T p.K398N Substitution - Missense Large_intestine COSM3707012 SETD1A c.2739T>A p.R913R Substitution - coding silent Liver COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4614349 TCF19 c.65_66insCC p.A25fs*73 Insertion - Frameshift Large_intestine COSM5592503 PHF21A c.1850C>T p.S617F Substitution - Missense Skin COSM5722618 KAT2A c.265C>T p.Q89* Substitution - Nonsense Skin COSM1469482 ATRX c.2518_2519insA p.R840fs*9 Insertion - Frameshift Stomach COSM3309728 SMARCB1 c.1109G>T p.R370M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4789085 GABRG1 c.179A>T p.H60L Substitution - Missense Liver COSM98117 PHIP c.3301C>G p.Q1101E Substitution - Missense Upper_aerodigestive_tract COSM4830111 ZMYM3 c.3912C>T p.L1304L Substitution - coding silent Cervix COSM3978794 KAT6B c.5299G>T p.A1767S Substitution - Missense Lung COSM5505138 MBD5 c.2162C>T p.P721L Substitution - Missense Biliary_tract COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1685042 ATRX c.5170C>A p.L1724I Substitution - Missense Lung COSM5002574 SETD1A c.2002C>T p.R668* Substitution - Nonsense Pancreas COSM4424279 DMAP1 c.550_552delAAG p.K185delK Deletion - In frame Oesophagus COSM215733 BAHCC1 c.1751G>T p.W584L Substitution - Missense Central_nervous_system COSM6002481 RAI1 c.5309G>A p.R1770H Substitution - Missense Prostate COSM1674381 KDM4C c.3107C>T p.A1036V Substitution - Missense Large_intestine COSM216221 ERCC6 c.4211G>A p.R1404H Substitution - Missense Large_intestine COSM1672655 PRDM1 c.1924A>G p.K642E Substitution - Missense Ovary COSM456905 FMR1 c.1525G>A p.E509K Substitution - Missense Cervix COSM4504740 ZMYM6 c.673C>T p.H225Y Substitution - Missense Skin COSM918679 ERCC6 c.814G>A p.E272K Substitution - Missense Breast COSM1099959 MYST3 c.1094A>C p.K365T Substitution - Missense Endometrium COSM13839 ATRX c.4192G>A p.D1398N Substitution - Missense Skin COSM96350 BAP1 c.323_324delTG p.L108fs*17 Deletion - Frameshift Pleura COSM4384608 KMT2A c.7537C>A p.Q2513K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM753804 SMARCA2 c.279C>A p.S93S Substitution - coding silent Lung COSM2758214 NCOA6 c.1422G>A p.P474P Substitution - coding silent Upper_aerodigestive_tract COSM255240 GABRG1 c.143C>T p.T48M Substitution - Missense Central_nervous_system COSM371419 MBD4 c.546C>A p.S182R Substitution - Missense Lung COSM1099 SMARCB1 c.628+13C>T p.? Unknown Central_nervous_system COSM1607502 PRMT5 c.1042C>T p.R348* Substitution - Nonsense Liver COSM1040962 MECOM c.2425C>T p.L809L Substitution - coding silent Endometrium COSM722972 KDM3A c.3933G>A p.L1311L Substitution - coding silent Oesophagus COSM251355 ARID1A c.6572_6580delGTATCGGCA p.S2191_G2193delSIG Deletion - In frame Liver COSM3528108 DNMT1 c.1093C>T p.L365F Substitution - Missense Skin COSM5673071 SUV420H1 c.1183C>G p.R395G Substitution - Missense Soft_tissue COSM4990238 KMT2D c.14802C>T p.A4934A Substitution - coding silent Skin COSM4611233 MYST3 c.1251delT p.F417fs*61 Deletion - Frameshift Large_intestine COSM5465117 MBD5 c.2474C>T p.P825L Substitution - Missense Large_intestine COSM5884652 PHF20L1 c.227A>C p.E76A Substitution - Missense Large_intestine COSM5721869 KDM5A c.2979C>T p.S993S Substitution - coding silent Skin COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM4651322 BAHCC1 c.5197C>T p.R1733W Substitution - Missense Small_intestine COSM1303718 INO80C c.9G>A p.A3A Substitution - coding silent Urinary_tract COSM1469462 ATRX c.4107A>G p.R1369R Substitution - coding silent Large_intestine COSM5745443 CHD6 c.1442_1443insA p.N481fs*6 Insertion - Frameshift Pancreas COSM255708 HCFC1 c.768C>A p.D256E Substitution - Missense Central_nervous_system COSM1360187 EP400 c.8184G>A p.Q2728Q Substitution - coding silent Large_intestine COSM1215633 MTA1 c.1898G>A p.R633H Substitution - Missense Large_intestine COSM3606398 PRDM8 c.619G>A p.G207S Substitution - Missense Skin COSM5042052 SP110 c.1012G>A p.A338T Substitution - Missense Liver COSM121537 PHC1 c.2475G>A p.K825K Substitution - coding silent Upper_aerodigestive_tract COSM4592007 RAI1 c.841_843delCAG p.Q291delQ Deletion - In frame Upper_aerodigestive_tract COSM1088628 STK31 c.1134G>A p.R378R Substitution - coding silent Endometrium COSM5699772 CDYL2 c.259G>T p.E87* Substitution - Nonsense Soft_tissue COSM3755301 SMYD4 c.21A>G p.E7E Substitution - coding silent Liver COSM4130814 BAHCC1 c.4939A>G p.T1647A Substitution - Missense Thyroid COSM3665503 TDRD1 c.1292A>T p.N431I Substitution - Missense Liver COSM255465 INTS12 c.1064C>T p.T355M Substitution - Missense Central_nervous_system COSM939494 ARID2 c.586G>T p.D196Y Substitution - Missense Breast COSM53304 SMARCB1 c.146_147ins25 p.?fs Insertion - Frameshift Soft_tissue COSM4732910 TDRD6 c.866G>A p.G289D Substitution - Missense Large_intestine COSM2802635 KDM6B c.3626G>A p.R1209Q Substitution - Missense Large_intestine COSM1228048 SUV420H2 c.284G>A p.R95H Substitution - Missense Large_intestine COSM98141 MSH6 c.941G>T p.S314I Substitution - Missense Upper_aerodigestive_tract COSM3523306 CHD3 c.4649C>T p.P1550L Substitution - Missense Skin COSM4951234 ARID1A c.3254C>G p.S1085* Substitution - Nonsense Liver COSM4791533 KDM4A c.759T>C p.Y253Y Substitution - coding silent Liver COSM1167877 CHD8 c.2233_2234insA p.I745fs*13 Insertion - Frameshift Skin COSM1742839 BAP1 c.784-1G>A p.? Unknown Biliary_tract COSM5716812 KMT2A c.16C>T p.R6W Substitution - Missense Skin COSM4800243 KDM4A c.2239G>T p.A747S Substitution - Missense Liver COSM5078706 CHD9 c.4209+7G>A p.? Unknown Large_intestine COSM956539 ARID4A c.3014T>C p.V1005A Substitution - Missense Endometrium COSM23042 MEN1 c.? p.K310* Substitution - Nonsense Parathyroid COSM476081 BAZ2B c.2560C>A p.Q854K Substitution - Missense Kidney COSM1738143 EZH2 c.? p.H279Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4129630 RAI1 c.1350G>A p.Q450Q Substitution - coding silent Thyroid COSM725897 AIRE c.325C>A p.P109T Substitution - Missense Lung COSM365481 EP400 c.4351C>T p.R1451W Substitution - Missense Lung COSM4389870 TAF1L c.2332G>A p.E778K Substitution - Missense Pancreas COSM5880104 BAP1 c.? p.E374K Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5645211 DIDO1 c.3420C>T p.F1140F Substitution - coding silent Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5606600 GTF3C1 c.1566T>G p.V522V Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4468856 KMT2D c.14860C>T p.R4954C Substitution - Missense Skin COSM340143 GATAD2B c.125G>A p.R42H Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4771549 ATRX c.4597A>G p.I1533V Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3979637 ALKBH3 c.404G>A p.W135* Substitution - Nonsense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3637536 STK31 c.702G>A p.R234R Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4466628 CDYL c.1606C>T p.R536C Substitution - Missense Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1718089 ARID1A c.6416C>A p.P2139H Substitution - Missense Large_intestine COSM1227188 SP100 c.1587C>G p.H529Q Substitution - Missense Large_intestine COSM3935151 SFMBT2 c.604C>T p.Q202* Substitution - Nonsense Oesophagus COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5962296 KAT2B c.2498G>C p.*833S Nonstop extension Breast COSM1190663 UTY c.2252A>T p.H751L Substitution - Missense Lung COSM4686164 GABRG1 c.236T>C p.L79P Substitution - Missense Large_intestine COSM3153267 L3MBTL2 c.1116delC p.L374fs*1 Deletion - Frameshift Large_intestine COSM3296318 EPC2 c.2298T>C p.S766S Substitution - coding silent Upper_aerodigestive_tract COSM480367 PBRM1 c.2128C>T p.R710* Substitution - Nonsense Biliary_tract COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM4603312 EP400 c.8184_8185insCAG p.Q2748_T2749insQ Insertion - In frame Upper_aerodigestive_tract COSM356289 TAF1 c.5351G>T p.G1784V Substitution - Missense Lung COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5968395 PHC3 c.20C>A p.P7Q Substitution - Missense Genital_tract COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1169673 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM5062109 PHF14 c.299A>G p.E100G Substitution - Missense Stomach COSM3620788 EYA4 c.152C>T p.S51F Substitution - Missense Skin COSM266713 INTS12 c.804G>T p.K268N Substitution - Missense Large_intestine COSM1740655 DNMT3B c.1591C>T p.R531C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1166762 TET2 c.3593delG p.V1199fs*27 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1184982 BRWD3 c.1085C>T p.T362M Substitution - Missense Large_intestine COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Oesophagus COSM1583068 DNMT3A c.1481G>A p.C494Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2166351 KAT5 c.522G>A p.Q174Q Substitution - coding silent Upper_aerodigestive_tract COSM42070 TET2 c.5650A>G p.T1884A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4070654 BAHCC1 c.2691G>A p.A897A Substitution - coding silent Stomach COSM5715555 SRCAP c.4123C>T p.L1375F Substitution - Missense Skin COSM249606 CARM1 c.978C>G p.L326L Substitution - coding silent Kidney COSM5945045 TET2 c.3647G>A p.R1216Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM35337 ASXL1 c.1830C>T p.G610G Substitution - coding silent Central_nervous_system COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM23152 MEN1 c.419delT p.I140fs*45 Deletion - Frameshift Gastrointestinal_tract_(site_indeterminate) COSM28782 KDM6A c.1787delA p.N596fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM51441 ARID1A c.5161C>T p.R1721* Substitution - Nonsense Stomach COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM53207 ASXL1 c.2387G>A p.W796* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM110723 BAP1 c.278_281delCTCA p.T93fs*4 Deletion - Frameshift Skin COSM96382 ASXL1 c.1873_1874delCG p.A627fs*7 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM117665 AICDA c.430T>C p.Y144H Substitution - Missense Ovary COSM140929 RAD54L c.149C>T p.P50L Substitution - Missense Upper_aerodigestive_tract COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Soft_tissue COSM158751 BRPF1 c.2960T>C p.V987A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM219638 PHF19 c.779+3G>C p.? Unknown Breast COSM221821 SRCAP c.6248G>T p.G2083V Substitution - Missense Skin COSM231575 DNMT3A c.2512A>G p.N838D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Central_nervous_system COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Skin COSM254820 KMT2C c.9034C>T p.Q3012* Substitution - Nonsense Urinary_tract COSM269595 MLL5 c.4283T>C p.L1428P Substitution - Missense Large_intestine COSM253882 KDM6A c.3341C>A p.S1114* Substitution - Nonsense Urinary_tract COSM301930 CHD3 c.721G>C p.A241P Substitution - Missense Upper_aerodigestive_tract COSM311821 HNF1A c.1708C>A p.Q570K Substitution - Missense Lung COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Large_intestine COSM318353 EP300 c.3358G>T p.D1120Y Substitution - Missense Lung COSM324829 BRD9 c.250G>A p.E84K Substitution - Missense Lung COSM376110 BAZ1B c.348G>T p.V116V Substitution - coding silent Lung COSM429562 MEN1 c.387C>G p.L129L Substitution - coding silent Breast COSM437715 CHD3 c.1868G>A p.R623H Substitution - Missense Breast COSM430522 HNF1A c.79A>C p.I27L Substitution - Missense Liver COSM444650 PRMT2 c.857C>G p.S286* Substitution - Nonsense Breast COSM452565 EZH2 c.1931C>G p.S644* Substitution - Nonsense Breast COSM464741 ORC1 c.1936C>T p.R646W Substitution - Missense Large_intestine COSM988155 INO80C c.19A>T p.I7F Substitution - Missense Endometrium COSM683952 PWWP2B c.1159G>A p.E387K Substitution - Missense Lung COSM675676 LMNA c.887G>A p.R296H Substitution - Missense Endometrium COSM693054 ATF7IP c.3794C>G p.S1265C Substitution - Missense Lung COSM1049765 TET2 c.4832C>A p.S1611Y Substitution - Missense Large_intestine COSM1023558 SMYD1 c.1146-1G>T p.? Unknown Endometrium COSM940076 KMT2D c.3116G>A p.R1039H Substitution - Missense Endometrium COSM1021309 MSH6 c.3759_3761delAGA p.E1254delE Deletion - In frame Endometrium COSM703850 CTCF c.1654C>T p.P552S Substitution - Missense Lung COSM707221 ZBTB4 c.1178G>T p.G393V Substitution - Missense Lung COSM731363 MINA c.642G>A p.E214E Substitution - coding silent Lung COSM902723 RBBP5 c.1012G>T p.E338* Substitution - Nonsense Endometrium COSM931219 SUV420H1 c.402G>T p.Q134H Substitution - Missense Endometrium COSM894173 TRIM33 c.2966C>T p.S989L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM894189 TRIM33 c.820G>A p.V274I Substitution - Missense Endometrium COSM993717 DOT1L c.552C>T p.G184G Substitution - coding silent Endometrium COSM1067723 NIPBL c.7220G>A p.R2407Q Substitution - Missense Endometrium COSM1066299 NSD1 c.6050G>A p.R2017Q Substitution - Missense Endometrium COSM1125511 ATRX c.1095C>A p.N365K Substitution - Missense Endometrium COSM1108245 TAF1L c.1673G>A p.R558Q Substitution - Missense Endometrium COSM1095766 ATAD2 c.1361A>C p.K454T Substitution - Missense Endometrium COSM1081839 PHIP c.5300G>A p.R1767K Substitution - Missense Endometrium COSM1250082 DIDO1 c.6376G>A p.E2126K Substitution - Missense Oesophagus COSM1163731 ADNP c.3047delA p.K1016fs*11 Deletion - Frameshift Large_intestine COSM1265336 SETD1A c.4387A>G p.T1463A Substitution - Missense Oesophagus COSM1606041 PRMT8 c.161G>A p.S54N Substitution - Missense Liver COSM1313976 ELP3 c.1098G>C p.Q366H Substitution - Missense Urinary_tract COSM1284744 EP300 c.2743C>T p.R915C Substitution - Missense Autonomic_ganglia COSM1288409 TDRD6 c.4772A>C p.N1591T Substitution - Missense Autonomic_ganglia COSM1299657 SMARCC2 c.1183G>C p.E395Q Substitution - Missense Urinary_tract COSM1316368 JMJD1C c.345T>G p.Y115* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1375403 IDH2 c.435delG p.T146fs*15 Deletion - Frameshift Stomach COSM1396201 TFPT c.504G>A p.P168P Substitution - coding silent Large_intestine COSM1378316 CHD9 c.2974C>T p.R992* Substitution - Nonsense Large_intestine COSM1444984 CDYL c.219A>G p.K73K Substitution - coding silent Large_intestine COSM1367376 SETDB2 c.1510delA p.M506fs*24 Deletion - Frameshift Stomach COSM1483984 DNMT3L c.853G>T p.V285L Substitution - Missense Breast COSM1616092 PRDM15 c.3319G>T p.D1107Y Substitution - Missense Liver COSM1630355 BPTF c.2737A>C p.K913Q Substitution - Missense Liver COSM1630251 MYST2 c.1147C>T p.R383W Substitution - Missense Liver COSM1678015 ARID4A c.3060A>C p.K1020N Substitution - Missense Large_intestine COSM1723869 BRWD3 c.820C>T p.P274S Substitution - Missense Skin COSM1749567 SETD1A c.1733C>G p.S578C Substitution - Missense Urinary_tract COSM1734035 SMYD3 c.461C>T p.S154L Substitution - Missense Pancreas COSM2176149 SETD1B c.874C>T p.R292* Substitution - Nonsense Salivary_gland COSM2098420 CHD4 c.3909T>A p.I1303I Substitution - coding silent Upper_aerodigestive_tract COSM2828729 SETD5_ENST00000402198 c.219T>C p.P73P Substitution - coding silent Upper_aerodigestive_tract COSM2931286 DIDO1 c.893G>A p.G298D Substitution - Missense Large_intestine COSM3013872 PRDM9 c.2453A>T p.H818L Substitution - Missense Thyroid COSM3144778 L3MBTL4 c.711C>T p.C237C Substitution - coding silent Large_intestine COSM3366675 KMT2C c.5060C>A p.S1687* Substitution - Nonsense Kidney COSM3373204 DHX30 c.46C>T p.Q16* Substitution - Nonsense Thyroid COSM3368093 JMJD1C c.1546C>T p.Q516* Substitution - Nonsense Thyroid COSM3395828 KIAA2026_ENST00000399933 c.168G>A p.Q56Q Substitution - coding silent Pancreas COSM3390128 SMARCB1 c.498T>C p.L166L Substitution - coding silent Pancreas COSM3479323 TDRD5 c.2307G>A p.K769K Substitution - coding silent Skin COSM3642790 TRRAP c.6098C>T p.S2033F Substitution - Missense Skin COSM3547373 NCOA3 c.1005C>T p.F335F Substitution - coding silent Skin COSM3729578 EP400 c.5539C>T p.R1847C Substitution - Missense Stomach COSM3754930 CHD9 c.3849G>A p.Q1283Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3772643 SMARCD1 c.714C>T p.D238D Substitution - coding silent Pancreas COSM3779231 MYST3 c.191C>G p.S64* Substitution - Nonsense Urinary_tract COSM3788562 PRDM2 c.686A>T p.E229V Substitution - Missense Urinary_tract COSM3939500 BRWD1 c.5403G>A p.R1801R Substitution - coding silent Oesophagus COSM3932609 EZH1 c.1153G>C p.E385Q Substitution - Missense Urinary_tract COSM3839024 HDAC4 c.3184C>T p.L1062L Substitution - coding silent Breast COSM3848637 KIAA2026_ENST00000399933 c.1996G>C p.E666Q Substitution - Missense Breast COSM3888287 GTF3C1 c.2712C>T p.L904L Substitution - coding silent Skin COSM3872079 SMARCC2 c.1049C>T p.P350L Substitution - Missense Skin COSM3949276 TDRD6 c.2464G>T p.A822S Substitution - Missense Lung COSM4043657 BAZ2A_ENST00000379441 c.4898+1G>A p.? Unknown Stomach COSM4044505 YEATS4 c.51+1G>A p.? Unknown Stomach COSM4080156 PRMT1 c.1027G>A p.D343N Substitution - Missense Stomach COSM4095758 INO80B c.354C>A p.P118P Substitution - coding silent Stomach COSM4110856 ZMYM3 c.3551C>T p.T1184M Substitution - Missense Stomach COSM4060279 SETD1A c.3129C>A p.S1043S Substitution - coding silent Stomach COSM4072221 SETBP1 c.214A>C p.N72H Substitution - Missense Stomach COSM4075094 MBD3 c.779C>T p.A260V Substitution - Missense Stomach COSM4131181 CARM1 c.44C>T p.A15V Substitution - Missense Thyroid COSM4162018 KMT2C c.2315C>T p.S772L Substitution - Missense Upper_aerodigestive_tract COSM4162018 KMT2C c.2315C>T p.S772L Substitution - Missense Skin COSM4382827 CHD1 c.1097C>T p.A366V Substitution - Missense Large_intestine COSM4384246 EZH2 c.2084C>T p.S695L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41598 ASXL1 c.1210C>T p.R404* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4399728 EZH1 c.1466C>T p.P489L Substitution - Missense Skin COSM4722919 RSF1 c.2849A>G p.Q950R Substitution - Missense Large_intestine COSM4723004 RTF1 c.752C>T p.P251L Substitution - Missense Large_intestine COSM4729927 SRCAP c.544C>T p.R182W Substitution - Missense Large_intestine COSM4677516 DIDO1 c.1815G>A p.S605S Substitution - coding silent Large_intestine COSM4612057 CHD9 c.7287_7288insA p.R2432fs*12 Insertion - Frameshift Large_intestine COSM4803581 TAF1 c.864G>T p.Q288H Substitution - Missense Liver COSM4916160 BRD4 c.1369A>T p.M457L Substitution - Missense Liver COSM4965478 HDAC2 c.1447G>A p.E483K Substitution - Missense Pancreas COSM4992830 TIF1 c.1492C>T p.P498S Substitution - Missense Skin COSM5005790 ACTR8 c.351A>G p.I117M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4971829 ATRX c.1598_1647del50 p.T534fs*3 Deletion - Frameshift Central_nervous_system COSM5013753 SMC1A c.1169C>T p.A390V Substitution - Missense Kidney COSM5016800 EHMT2 c.676A>G p.K226E Substitution - Missense Kidney COSM5010039 TRRAP c.9395A>T p.D3132V Substitution - Missense Large_intestine COSM5060046 TET2 c.1849A>C p.R617R Substitution - coding silent Stomach COSM5127213 TCF20 c.5800-7G>A p.? Unknown Upper_aerodigestive_tract COSM5180965 PRDM10 c.2787G>A p.A929A Substitution - coding silent Biliary_tract COSM5048124 PHF3 c.5453C>T p.P1818L Substitution - Missense Oesophagus COSM5347110 ARID1A c.1559A>G p.Q520R Substitution - Missense Endometrium COSM5344521 BAP1 c.1251-1G>C p.? Unknown Large_intestine COSM5400260 TET2 c.4733C>T p.P1578L Substitution - Missense Skin COSM5455056 HDAC10 c.1884G>T p.E628D Substitution - Missense Large_intestine COSM5637363 BAZ1A c.2762C>A p.T921N Substitution - Missense Oesophagus COSM5752082 TDRD6 c.3217G>CG p.V1073fs*4 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM5751535 CREBBP c.5799_5800insC p.S1934fs*32 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5665391 MYST3 c.783G>T p.E261D Substitution - Missense Soft_tissue COSM5710058 BAG6 c.146C>T p.S49F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5572910 SETDB1 c.448-2A>T p.? Unknown Prostate COSM5803513 SETBP1 c.3489C>G p.I1163M Substitution - Missense Liver COSM5944218 DNMT3A c.2086delC p.Q696fs*9 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5945114 EZH2 c.1936T>G p.Y646D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5893377 KDM4C c.2038G>A p.G680R Substitution - Missense Skin COSM5990077 TET2 c.1906delG p.V636fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5995589 PHF17 c.2374A>G p.S792G Substitution - Missense Prostate COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4169529 TET2 c.? p.Q1034* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Central_nervous_system COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3759496 KDM6A c.2177C>A p.T726K Substitution - Missense Skin COSM5722303 TP53BP1 c.4001C>T p.A1334V Substitution - Missense Skin COSM166347 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4579486 RAI1 c.1136C>T p.T379I Substitution - Missense Bone COSM43492 TET2 c.5456_5456delT p.L1819fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4979687 ATF7IP c.1706G>T p.R569L Substitution - Missense Oesophagus COSM1217938 NSD1 c.7897C>T p.R2633W Substitution - Missense Large_intestine COSM900310 TDRD5 c.2884C>T p.R962W Substitution - Missense Endometrium COSM3606401 PRDM8 c.1934G>A p.R645K Substitution - Missense Skin COSM4139020 PHF2 c.2946G>C p.T982T Substitution - coding silent Kidney COSM5474035 DNMT1 c.816T>G p.A272A Substitution - coding silent Large_intestine COSM3097076 ATRX c.3505_3507delAAG p.K1169delK Deletion - In frame Upper_aerodigestive_tract COSM5716285 BAHCC1 c.2987C>T p.P996L Substitution - Missense Skin COSM5752077 DNMT3A c.1683_1684insC p.C562fs*16 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3932770 CHD3 c.1549T>G p.W517G Substitution - Missense Urinary_tract COSM1457724 CHD7 c.4607A>G p.K1536R Substitution - Missense Large_intestine COSM1161958 KDM5C c.2062-2A>T p.? Unknown Kidney COSM351586 HDAC9 c.1270C>G p.Q424E Substitution - Missense Lung COSM1125869 BRWD3 c.1408G>A p.V470I Substitution - Missense Endometrium COSM1124908 TAF1 c.3661C>T p.R1221* Substitution - Nonsense Endometrium COSM4003566 C5orf35 c.226T>A p.S76T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4952570 BAHCC1 c.942G>T p.V314V Substitution - coding silent Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Biliary_tract COSM5568241 SP140_ENST00000392045 c.1178C>T p.S393L Substitution - Missense Prostate COSM1088652 STK31 c.2182C>T p.R728* Substitution - Nonsense Central_nervous_system COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM356859 CBX4 c.1456G>T p.E486* Substitution - Nonsense Lung COSM927025 PRDM11 c.291C>T p.I97I Substitution - coding silent Oesophagus COSM1106535 BRD3 c.1843G>T p.E615* Substitution - Nonsense Endometrium COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5766185 ATRX c.1133_1134insA p.D379fs*2 Insertion - Frameshift Central_nervous_system COSM415788 KDM2A c.3058C>T p.R1020W Substitution - Missense Urinary_tract COSM275569 ING3 c.563G>A p.R188Q Substitution - Missense Endometrium COSM4117997 SETD2 c.4935A>G p.S1645S Substitution - coding silent Stomach COSM5986306 EHMT2 c.3104G>A p.G1035D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1465110 MSL3 c.1058G>A p.R353H Substitution - Missense Large_intestine COSM479397 MBD4 c.1377T>C p.L459L Substitution - coding silent Kidney COSM4915573 TDRD5 c.2153G>A p.R718H Substitution - Missense Liver COSM5002083 ZBTB38 c.955T>G p.S319A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3636527 KMT2C c.2426G>A p.G809E Substitution - Missense Skin COSM1416757 PHF21B c.1180C>T p.P394S Substitution - Missense Large_intestine COSM608355 TAF1L c.3044G>A p.R1015H Substitution - Missense Soft_tissue COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1161941 SETD2 c.2900C>T p.P967L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5014717 ZCWPW1 c.1255C>T p.R419W Substitution - Missense Kidney COSM4260243 CREBBP c.4471C>G p.Q1491E Substitution - Missense Upper_aerodigestive_tract COSM1606132 ARID2 c.953delT p.S319fs*9 Deletion - Frameshift Liver COSM3214182 WDR5 c.653C>T p.S218F Substitution - Missense Skin COSM3796345 AP001011.3_ENST00000320876 c.3214C>G p.Q1072E Substitution - Missense Urinary_tract COSM5149618 BAHCC1 c.6776G>T p.R2259L Substitution - Missense Large_intestine COSM389967 ZMYM4 c.1416C>G p.F472L Substitution - Missense Lung COSM5068876 MGA c.6002A>C p.Q2001P Substitution - Missense Large_intestine COSM4629904 EP400 c.6688A>G p.M2230V Substitution - Missense Large_intestine COSM1621724 TDRD6 c.12G>A p.T4T Substitution - coding silent Liver COSM4891429 CHD4 c.4975G>T p.D1659Y Substitution - Missense Upper_aerodigestive_tract COSM5879654 ASXL1 c.1855_1936del82 p.A621fs*55 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM144222 ATRX c.4766G>T p.G1589V Substitution - Missense Central_nervous_system COSM4167241 TET2 c.? p.A379V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4605321 TET2 c.4145A>G p.H1382R Substitution - Missense Upper_aerodigestive_tract COSM4079952 UHRF1 c.1331G>A p.R444Q Substitution - Missense Stomach COSM468038 EP400 c.8229G>A p.Q2743Q Substitution - coding silent Kidney COSM3966498 ARID1A c.4093C>T p.Q1365* Substitution - Nonsense Central_nervous_system COSM97190 TET2 c.2079_2079delA p.K693fs*7 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5637350 KMT2A c.9870A>T p.K3290N Substitution - Missense Oesophagus COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3488217 PRDM16 c.1469C>T p.P490L Substitution - Missense Skin COSM5369657 MTA2 c.469A>G p.I157V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4010191 RERE c.1762C>T p.R588W Substitution - Missense Stomach COSM3583117 SMYD5 c.333C>T p.A111A Substitution - coding silent Skin COSM5434978 KDM4B c.2366C>T p.A789V Substitution - Missense Oesophagus COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1061307 KDM3B c.436C>T p.R146W Substitution - Missense Endometrium COSM5992557 SMYD3 c.671G>T p.W224L Substitution - Missense Prostate COSM3233471 FMR1 c.1329G>A p.Q443Q Substitution - coding silent Upper_aerodigestive_tract COSM43412 TET2 c.?_?del? p.?fs Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1050500 PRDM5 c.1356G>T p.Q452H Substitution - Missense Endometrium COSM3424967 ATRX c.536A>G p.N179S Substitution - Missense Large_intestine COSM1008141 BAZ2B c.6210-16_6232del39 p.? Unknown Endometrium COSM42986 TRRAP c.5805G>A p.E1935E Substitution - coding silent Central_nervous_system COSM976135 RAI1 c.5518G>A p.G1840R Substitution - Missense Upper_aerodigestive_tract COSM4649476 MEN1 c.881G>A p.G294D Substitution - Missense Large_intestine COSM3458239 EP400 c.4250C>T p.P1417L Substitution - Missense Skin COSM3174795 SIRT5 c.805G>A p.V269M Substitution - Missense Kidney COSM712793 SIRT6 c.346G>A p.D116N Substitution - Missense Lung COSM43394 SETD2 c.455T>A p.L152* Substitution - Nonsense Kidney COSM4427106 TDRD3 c.605T>C p.I202T Substitution - Missense Oesophagus COSM1091555 BAZ1B c.4396G>T p.G1466W Substitution - Missense Endometrium COSM5051984 PHC1 c.545C>T p.A182V Substitution - Missense Stomach COSM4777221 ARID2 c.733G>T p.E245* Substitution - Nonsense Breast COSM51464 ARID1A c.1627C>T p.Q543* Substitution - Nonsense Ovary COSM4921282 CHD7 c.4859G>T p.R1620L Substitution - Missense Liver COSM464663 KDM4A c.606T>C p.F202F Substitution - coding silent Kidney COSM4920993 ZMYM4 c.2505G>A p.M835I Substitution - Missense Liver COSM1615193 SMYD1 c.335G>A p.W112* Substitution - Nonsense Liver COSM4502996 JMJD6 c.628C>T p.P210S Substitution - Missense Skin COSM4659086 ACTA1 c.757G>A p.G253S Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM40169 RSF1 c.3519T>C p.D1173D Substitution - coding silent Central_nervous_system COSM3402757 SUZ12 c.1261G>A p.E421K Substitution - Missense Central_nervous_system COSM3529604 BRD4 c.920C>T p.P307L Substitution - Missense Skin COSM146206 MGMT c.415-2A>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5715695 SETD2 c.5092G>C p.A1698P Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1600887 PYGO2 c.389G>A p.R130H Substitution - Missense Liver COSM3883784 TRRAP c.11388C>T p.L3796L Substitution - coding silent Stomach COSM1306631 NCOA1 c.1769C>G p.S590* Substitution - Nonsense Urinary_tract COSM255009 KDM6A c.4129C>T p.Q1377* Substitution - Nonsense Urinary_tract COSM5971387 BAHD1 c.1357G>A p.G453R Substitution - Missense Upper_aerodigestive_tract COSM3587203 MBD4 c.159G>A p.M53I Substitution - Missense Skin COSM1696874 CDYL c.1634C>T p.P545L Substitution - Missense Skin COSM3779462 TDRD7 c.2811G>A p.K937K Substitution - coding silent Urinary_tract COSM2965383 KDM6A c.2260A>G p.M754V Substitution - Missense Upper_aerodigestive_tract COSM4877454 LMNA c.985C>T p.R329C Substitution - Missense Prostate COSM254575 BTAF1 c.1486C>T p.L496F Substitution - Missense Urinary_tract COSM1694318 GABRG1 c.98G>A p.G33E Substitution - Missense Skin COSM1041412 TBL1XR1 c.1047G>A p.T349T Substitution - coding silent Endometrium COSM1032616 SMARCB1 c.281C>T p.S94L Substitution - Missense Endometrium COSM259609 BAZ2B c.4684C>A p.L1562I Substitution - Missense Large_intestine COSM4969409 ATRX c.4121-33_4141del54 p.? Unknown Central_nervous_system COSM3858849 SHPRH c.3056A>C p.K1019T Substitution - Missense Stomach COSM140751 CREBBP c.2356C>A p.Q786K Substitution - Missense Skin COSM3518954 MYST2 c.1426C>T p.L476F Substitution - Missense Skin COSM3736798 NCOA6 c.3872C>A p.T1291N Substitution - Missense Skin COSM1172739 DIDO1 c.374C>A p.P125H Substitution - Missense Oesophagus COSM2158575 JMJD1C c.1020_1021insA p.D341fs*3 Insertion - Frameshift Large_intestine COSM3736847 BRD8 c.673G>T p.G225C Substitution - Missense Upper_aerodigestive_tract COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3464386 CHD4 c.2481C>T p.A827A Substitution - coding silent Skin COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM312109 KDM5D c.3997A>G p.K1333E Substitution - Missense Lung COSM5727425 PRDM1 c.84C>A p.D28E Substitution - Missense Skin COSM1184890 BRD1 c.2210G>A p.R737Q Substitution - Missense Large_intestine COSM206736 ASH1L c.8683delA p.T2895fs*44 Deletion - Frameshift Large_intestine COSM1198876 C5orf35 c.580G>C p.V194L Substitution - Missense Large_intestine COSM3817828 SRCAP c.8149G>A p.A2717T Substitution - Missense Breast COSM404288 PRDM7 c.419C>A p.S140* Substitution - Nonsense Lung COSM3421308 NCOR1 c.2107G>A p.A703T Substitution - Missense Large_intestine COSM88738 CREBBP c.4337G>T p.R1446L Substitution - Missense Central_nervous_system COSM5515046 NIPBL c.3976G>T p.A1326S Substitution - Missense Biliary_tract COSM5581818 NCOA1 c.544C>T p.P182S Substitution - Missense Skin COSM1465246 ZBTB33 c.563_564insTGA p.D194_V195insD Insertion - In frame Upper_aerodigestive_tract COSM3410953 EHMT2 c.1552C>T p.R518C Substitution - Missense Central_nervous_system COSM5719952 SETD5_ENST00000402198 c.1306G>A p.G436R Substitution - Missense Skin COSM1736383 LMNB1 c.1225G>C p.V409L Substitution - Missense Central_nervous_system COSM5961828 ACTB c.360C>T p.T120T Substitution - coding silent Adrenal_gland COSM4482287 PRMT1 c.186C>T p.L62L Substitution - coding silent Skin COSM4169946 DNMT3A c.2580G>A p.W860* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM444517 PRDM15 c.468delG p.N157fs*9 Deletion - Frameshift Breast COSM1703077 TDRD1 c.3452T>C p.V1151A Substitution - Missense Skin COSM4726203 SIRT5 c.77G>A p.R26Q Substitution - Missense Large_intestine COSM4462734 TCF20 c.1259C>T p.P420L Substitution - Missense Skin COSM3423700 NCOA3 c.3637C>T p.Q1213* Substitution - Nonsense Large_intestine COSM1034590 L3MBTL2 c.1318C>A p.L440M Substitution - Missense Endometrium COSM1265327 SETBP1 c.2134C>A p.Q712K Substitution - Missense Oesophagus COSM993744 DOT1L c.1232G>A p.R411H Substitution - Missense Large_intestine COSM4714052 PHIP c.444T>C p.D148D Substitution - coding silent Large_intestine COSM5967510 MSH6 c.913A>T p.T305S Substitution - Missense Large_intestine COSM1718683 DOT1L c.1095C>T p.A365A Substitution - coding silent Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5475451 JMJD1C c.672T>C p.H224H Substitution - coding silent Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5471799 BRPF1 c.1998C>T p.D666D Substitution - coding silent Large_intestine COSM4713994 PHF21A c.1600C>T p.R534* Substitution - Nonsense Large_intestine COSM4060271 SETD1A c.932G>A p.R311H Substitution - Missense Stomach COSM5596362 BRPF3 c.2915C>T p.S972F Substitution - Missense Skin COSM1387295 BAHCC1 c.5639G>A p.R1880Q Substitution - Missense Large_intestine COSM5019629 SMARCA4 c.1509A>G p.A503A Substitution - coding silent Soft_tissue COSM52787 PBRM1 c.1162C>T p.Q388* Substitution - Nonsense Cervix COSM5019600 ARID1B c.3960-7A>G p.? Unknown Soft_tissue COSM1979953 PHF21A c.492T>C p.S164S Substitution - coding silent Upper_aerodigestive_tract COSM3758571 CHD6 c.7284T>C p.T2428T Substitution - coding silent Large_intestine COSM97031 ASXL1 c.1963_1976del14 p.T655fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5960188 CHD6 c.3961_3962insT p.S1321fs*15 Insertion - Frameshift Thyroid COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM292909 FTO c.558C>T p.N186N Substitution - coding silent Large_intestine COSM327057 MSH6 c.342C>A p.P114P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM750334 MYST3 c.1087G>T p.G363C Substitution - Missense Lung COSM4736052 TRIM33 c.1928C>T p.T643M Substitution - Missense Large_intestine COSM4584415 DHX30 c.1995C>A p.R665R Substitution - coding silent Bone COSM3493041 RERE c.408C>T p.S136S Substitution - coding silent Skin COSM21486 HNF1A c.872delC p.P291fs*51 Deletion - Frameshift Liver COSM4460536 SUV420H1 c.116C>T p.T39I Substitution - Missense Skin COSM34090 IDH2 c.516G>T p.R172S Substitution - Missense Bone COSM4753728 SETBP1 c.3764C>A p.P1255H Substitution - Missense Stomach COSM5712775 NCOR1 c.2931G>T p.R977R Substitution - coding silent Central_nervous_system COSM3736469 MYST3 c.401T>C p.L134S Substitution - Missense Soft_tissue COSM1226919 SMYD3 c.127G>A p.V43I Substitution - Missense Large_intestine COSM4060278 SETD1A c.3076G>A p.E1026K Substitution - Missense Stomach COSM4820264 KDM6A c.2939-1G>A p.? Unknown Cervix COSM920702 TAF3 c.1320G>A p.A440A Substitution - coding silent Endometrium COSM72280 PRDM14 c.982G>A p.V328I Substitution - Missense Ovary COSM5062073 MLL5 c.5159C>T p.P1720L Substitution - Missense Stomach COSM1582021 ARID1A c.6527_6528delAG p.Q2176fs*48 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2960091 ASH2L c.262G>A p.A88T Substitution - Missense Large_intestine COSM1470396 KAT6B c.4379T>G p.L1460* Substitution - Nonsense Prostate COSM1101419 NCOA2 c.1470T>C p.H490H Substitution - coding silent Endometrium COSM1283596 ATRX c.6049T>C p.S2017P Substitution - Missense Autonomic_ganglia COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1478995 CTCF c.1A>G p.M1V Substitution - Missense Breast COSM2758150 NCOA6 c.4337C>T p.A1446V Substitution - Missense Large_intestine COSM2098491 CHD4 c.3202C>T p.R1068C Substitution - Missense Skin COSM3413682 KIAA2026_ENST00000399933 c.3232C>A p.L1078I Substitution - Missense Central_nervous_system COSM1716182 EZH2 c.? p.A692V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3567475 EPC2 c.2039C>T p.S680F Substitution - Missense Skin COSM4274573 AP001011.3_ENST00000320876 c.2131G>A p.A711T Substitution - Missense Upper_aerodigestive_tract COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1416758 PHF21B c.480C>T p.A160A Substitution - coding silent Thyroid COSM1081874 PHIP c.764G>A p.R255Q Substitution - Missense Large_intestine COSM1357126 RSF1 c.1989_1990insA p.V664fs*11 Insertion - Frameshift Large_intestine COSM284221 PRDM16 c.1896C>T p.D632D Substitution - coding silent Large_intestine COSM4821766 NCOA6 c.1356G>A p.Q452Q Substitution - coding silent Cervix COSM1689311 TDRD5 c.118G>A p.G40S Substitution - Missense Skin COSM1622166 MLL5 c.3336T>G p.T1112T Substitution - coding silent Liver COSM4805872 SRCAP c.7466C>G p.S2489* Substitution - Nonsense Liver COSM2265232 ZMYM2 c.1698T>C p.C566C Substitution - coding silent Upper_aerodigestive_tract COSM427971 TAF3 c.1362C>G p.S454S Substitution - coding silent Breast COSM5560264 ARID1A c.3900G>A p.M1300I Substitution - Missense Prostate COSM4138163 JMJD6 c.1080+1G>C p.? Unknown Pancreas COSM4728436 AP001011.3_ENST00000320876 c.4268G>A p.R1423Q Substitution - Missense Large_intestine COSM4500083 CHD3 c.5397C>A p.L1799L Substitution - coding silent Skin COSM1620275 NIPBL c.7352A>G p.H2451R Substitution - Missense Liver COSM231560 DNMT3A c.2206C>T p.R736C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM110355 CBX4 c.970C>T p.P324S Substitution - Missense Skin COSM468438 KMT2D c.12639G>A p.L4213L Substitution - coding silent Kidney COSM5963467 ERCC6 c.3917G>A p.G1306E Substitution - Missense Breast COSM3555670 HDAC10 c.1128G>A p.G376G Substitution - coding silent Skin COSM1436261 NSD1 c.2796C>G p.N932K Substitution - Missense Large_intestine COSM1242419 KDM5C c.4247A>G p.N1416S Substitution - Missense Oesophagus COSM5724114 ATF7IP c.1749A>G p.V583V Substitution - coding silent Skin COSM72737 SMARCA4 c.2896C>T p.R966W Substitution - Missense Large_intestine COSM3765997 NCOR1 c.4153-5T>A p.? Unknown Liver COSM4591023 KMT2C c.871C>T p.L291F Substitution - Missense Upper_aerodigestive_tract COSM3375669 KMT2A c.8056A>G p.R2686G Substitution - Missense Pancreas COSM1476831 CHD4 c.3484C>T p.R1162W Substitution - Missense Large_intestine COSM3259702 EZH2 c.73C>A p.R25R Substitution - coding silent Upper_aerodigestive_tract COSM1488413 KMT2C c.390-2A>C p.? Unknown Breast COSM4789776 HDAC11 c.443G>T p.R148L Substitution - Missense Liver COSM52860 PBRM1 c.2240_2246delAAGATGC p.K747fs*26 Deletion - Frameshift Kidney COSM1197644 MTA2 c.373G>T p.D125Y Substitution - Missense Lung COSM4000327 CBX4 c.871T>C p.S291P Substitution - Missense Upper_aerodigestive_tract COSM4984168 EP400 c.7357C>T p.Q2453* Substitution - Nonsense Oesophagus COSM5388532 DNMT1 c.4294C>T p.P1432S Substitution - Missense Skin COSM5796800 TDRD7 c.1741+2T>G p.? Unknown Breast COSM468444 KMT2D c.4938C>G p.G1646G Substitution - coding silent Kidney COSM4064273 SMYD4 c.686C>A p.S229Y Substitution - Missense Stomach COSM452742 KMT2C c.1099C>T p.H367Y Substitution - Missense Skin COSM5508823 NSD1 c.2038A>C p.K680Q Substitution - Missense Biliary_tract COSM697923 BAZ1A c.4124C>T p.P1375L Substitution - Missense Lung COSM4500386 SRCAP c.5648C>T p.P1883L Substitution - Missense Skin COSM133723 DNMT3A c.2255_2257delTCT p.F752del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM1257778 KMT2D c.12754C>T p.P4252S Substitution - Missense Oesophagus COSM3950357 STK31 c.1371G>C p.L457L Substitution - coding silent Lung COSM1161850 WHSC1 c.581G>T p.S194I Substitution - Missense Kidney COSM211717 TET2 c.3662G>A p.C1221Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2965365 KDM6A c.1980C>A p.L660L Substitution - coding silent Upper_aerodigestive_tract COSM3769992 EYA4 c.613G>T p.E205* Substitution - Nonsense Soft_tissue COSM243678 CHD8 c.1444C>T p.R482* Substitution - Nonsense Prostate COSM4695847 KIAA2026_ENST00000399933 c.5317C>T p.R1773C Substitution - Missense Large_intestine COSM3429359 PRDM9 c.29G>A p.S10N Substitution - Missense Large_intestine COSM3886935 RTF1 c.1231C>T p.Q411* Substitution - Nonsense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4115108 MECOM c.473G>A p.R158Q Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM110818 BAP1 c.1_2190del2190 p.0? Whole gene deletion Salivary_gland COSM699050 UBR7 c.783C>T p.A261A Substitution - coding silent Lung COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM4476157 ARID1A c.2048C>T p.P683L Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3733483 KMT2D c.15379_15381delAAC p.N5128delN Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5711274 SMARCA2 c.666_667insCAG p.Q238_P239insQ Insertion - In frame Haematopoietic_and_lymphoid_tissue COSM3563495 ATRX c.6203C>T p.P2068L Substitution - Missense Skin COSM257692 PCNA c.267A>C p.T89T Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM697494 PRMT5 c.1778G>T p.R593L Substitution - Missense Lung COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5956930 SMC1A c.3437+2T>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3415175 JMJD1C c.446G>A p.R149Q Substitution - Missense Large_intestine COSM5752848 ARID1A c.2267_2268insC p.Q758fs*59 Insertion - Frameshift Breast COSM1323371 ALKBH1 c.302T>G p.F101C Substitution - Missense Ovary COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM77837 HDAC6 c.2242C>A p.P748T Substitution - Missense Ovary COSM316701 ZMYM3 c.1178A>T p.Q393L Substitution - Missense Soft_tissue COSM221269 EP300 c.1244T>C p.L415P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4976131 NIPBL c.998A>T p.K333M Substitution - Missense Oesophagus COSM4008369 DMAP1 c.1231G>A p.A411T Substitution - Missense Stomach COSM3406470 SMC1A c.1913C>A p.T638K Substitution - Missense Central_nervous_system COSM3394628 KMT2C c.5814G>A p.M1938I Substitution - Missense Pancreas COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM41741 TET2 c.5618T>C p.I1873T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4169550 DNMT3A c.? p.W581fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5611870 SETBP1 c.207G>A p.V69V Substitution - coding silent Adrenal_gland COSM52863 PBRM1 c.835delA p.I279fs*4 Deletion - Frameshift Large_intestine COSM3656096 EHMT1 c.3363C>T p.V1121V Substitution - coding silent Skin COSM2229113 EP400 c.4047G>A p.A1349A Substitution - coding silent Urinary_tract COSM4016605 BTAF1 c.3357T>C p.S1119S Substitution - coding silent Stomach COSM1622669 HDAC9 c.2600T>A p.L867H Substitution - Missense Liver COSM335744 NCOA2 c.4182G>T p.M1394I Substitution - Missense Lung COSM4565946 DIDO1 c.275_276CC>TT p.S92F Substitution - Missense Skin COSM246117 NSD1 c.4978C>T p.R1660C Substitution - Missense Prostate COSM419977 SMARCC1 c.850G>A p.D284N Substitution - Missense Urinary_tract COSM53098 DNMT3A c.2318_2322+5del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3720551 PRMT8 c.803T>C p.V268A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4812768 CHD4 c.5630G>A p.R1877Q Substitution - Missense Urinary_tract COSM3741740 CHD2 c.1708A>T p.S570C Substitution - Missense Liver COSM3380880 ING2 c.54G>A p.G18G Substitution - coding silent Pancreas COSM357787 SCML2 c.1430C>T p.S477F Substitution - Missense Lung COSM3673695 CAMKMT c.491T>G p.M164R Substitution - Missense Prostate COSM196632 SIRT7 c.1042C>T p.R348C Substitution - Missense Lung COSM2191121 RAD54L c.1334C>A p.S445Y Substitution - Missense Large_intestine COSM5982028 CREBBP c.? p.M747V Substitution - Missense Breast COSM4589545 ATRX c.4377_4379delGGA p.E1464delE Deletion - In frame Bone COSM5554771 C20orf20 c.505G>C p.G169R Substitution - Missense Prostate COSM4097599 DNMT3B c.1704C>T p.P568P Substitution - coding silent Stomach COSM3557679 SMARCA1 c.2424G>A p.R808R Substitution - coding silent Skin COSM1483849 ZGPAT c.1374G>T p.R458R Substitution - coding silent Breast COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Large_intestine COSM3985071 SCMH1 c.1437C>T p.H479H Substitution - coding silent Kidney COSM24922 HNF1A c.685C>G p.R229G Substitution - Missense Liver COSM22608 MEN1 c.292C>T p.R98* Substitution - Nonsense Parathyroid COSM28466 KMT2A c.7012A>T p.T2338S Substitution - Missense Kidney COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1002 SMARCB1 c.118C>T p.R40* Substitution - Nonsense Skin COSM34039 IDH2 c.514A>T p.R172W Substitution - Missense Central_nervous_system COSM249801 DNMT3A c.1220T>C p.I407T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41213 TET2 c.1864C>T p.Q622* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85911 IKZF1 c.161-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52980 EZH2 c.2069G>A p.R690H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM100084 KMT2C c.13630C>T p.R4544W Substitution - Missense Large_intestine COSM87960 KMT2C c.7825C>T p.R2609* Substitution - Nonsense Central_nervous_system COSM88761 CREBBP c.3967A>T p.K1323* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM110702 ASXL1 c.2758_2759insA p.P920fs*4 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM133737 DNMT3A c.2207G>A p.R736H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM145694 NSD1 c.6085A>G p.T2029A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144555 DNMT3A c.(1516_1518)delC p.(H506_L508)fs*(143-145) Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM183222 HDGFL1 c.198C>T p.F66F Substitution - coding silent Endometrium COSM217058 YY1 c.1225A>G p.K409E Substitution - Missense Liver COSM235474 TDRD1 c.840C>T p.Y280Y Substitution - coding silent Skin COSM245967 NCOA3 c.4213A>G p.M1405V Substitution - Missense Prostate COSM254818 KMT2C c.658C>T p.Q220* Substitution - Nonsense Urinary_tract COSM276970 PYGO1 c.1196A>C p.K399T Substitution - Missense Large_intestine COSM322493 PBRM1 c.995G>C p.R332P Substitution - Missense Lung COSM328199 SHPRH c.476A>C p.D159A Substitution - Missense Large_intestine COSM357501 PRDM4 c.1417G>A p.E473K Substitution - Missense Lung COSM374962 PRDM11 c.1273G>T p.D425Y Substitution - Missense Lung COSM388655 HCFC1 c.669G>T p.R223R Substitution - coding silent Lung COSM422745 PBRM1 c.172C>T p.R58* Substitution - Nonsense Kidney COSM538496 EPC1 c.641G>A p.R214H Substitution - Missense Ovary COSM963073 PYGO1 c.882C>T p.A294A Substitution - coding silent Endometrium COSM691522 TDG c.479-1G>T p.? Unknown Large_intestine COSM1047079 PBRM1 c.3691G>A p.G1231R Substitution - Missense Endometrium COSM1017586 SP110 c.955C>A p.P319T Substitution - Missense Endometrium COSM1049142 BRPF1 c.2393G>A p.R798Q Substitution - Missense Endometrium COSM1018619 HDAC4 c.2451C>T p.S817S Substitution - coding silent Endometrium COSM756872 PHF8 c.2071A>G p.I691V Substitution - Missense Lung COSM738291 PRDM9 c.168G>T p.R56S Substitution - Missense Lung COSM726300 CBX6 c.1008C>T p.A336A Substitution - coding silent Lung COSM1007224 MBD5 c.1982A>T p.Q661L Substitution - Missense Endometrium COSM1073181 L3MBTL3 c.1176G>A p.T392T Substitution - coding silent Endometrium COSM1109451 KIAA2026_ENST00000399933 c.3440C>A p.S1147Y Substitution - Missense Endometrium COSM1118754 SCML2 c.1878G>T p.K626N Substitution - Missense Endometrium COSM1125501 ATRX c.1639G>A p.D547N Substitution - Missense Endometrium COSM4897630 PHC3 c.2128C>T p.Q710* Substitution - Nonsense Skin COSM1095759 ATAD2 c.2037C>T p.F679F Substitution - coding silent Endometrium COSM1080065 CDYL c.1380C>T p.C460C Substitution - coding silent Endometrium COSM1086206 JHDM1D c.1128C>T p.G376G Substitution - coding silent Endometrium COSM1083686 MLL5 c.3426C>T p.I1142I Substitution - coding silent Stomach COSM1228814 TDG c.1097G>A p.S366N Substitution - Missense Large_intestine COSM1184920 BRDT c.2596G>A p.D866N Substitution - Missense Large_intestine COSM1162342 PHC1 c.918A>G p.R306R Substitution - coding silent Thyroid COSM1163731 ADNP c.3047delA p.K1016fs*11 Deletion - Frameshift Large_intestine COSM1163199 PRMT1 c.182A>G p.H61R Substitution - Missense Pancreas COSM1380612 PRDM7 c.393T>G p.I131M Substitution - Missense Large_intestine COSM1421140 FXR1 c.363_364insA p.N124fs*5 Insertion - Frameshift Large_intestine COSM1462734 KDM4C c.2303C>T p.T768M Substitution - Missense Large_intestine COSM1446044 PHIP c.4991A>C p.K1664T Substitution - Missense Large_intestine COSM1442451 HDGFL1 c.342C>T p.G114G Substitution - coding silent Large_intestine COSM1365736 ZMYM2 c.3742delA p.N1250fs*3 Deletion - Frameshift Large_intestine COSM1608861 CHD2 c.3066+9A>G p.? Unknown Liver COSM1580077 INTS12 c.41T>G p.L14W Substitution - Missense Central_nervous_system COSM1640187 SETD3 c.17G>A p.R6Q Substitution - Missense Stomach COSM1644700 KDM6A c.3004A>G p.T1002A Substitution - Missense Salivary_gland COSM1716619 ATRX c.801_807delTTGTCAC p.C268fs*18 Deletion - Frameshift Central_nervous_system COSM1713613 NCOA3 c.3881G>A p.G1294E Substitution - Missense Skin COSM1737512 BRD9 c.877G>A p.A293T Substitution - Missense Large_intestine COSM1725330 HDAC2 c.544G>C p.D182H Substitution - Missense Liver COSM1737890 TET2 c.3845G>A p.G1282D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1965193 KAT6B c.5878A>G p.T1960A Substitution - Missense Large_intestine COSM2006756 KMT2D c.12970G>C p.A4324P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2023477 PWWP2B c.1037A>G p.E346G Substitution - Missense Large_intestine COSM2078394 PRDM16 c.1424C>T p.S475F Substitution - Missense Large_intestine COSM2828730 SETD5_ENST00000402198 c.261A>G p.E87E Substitution - coding silent Upper_aerodigestive_tract COSM2859868 TIF1 c.1433C>T p.P478L Substitution - Missense Skin COSM3296243 EPC2 c.37G>A p.A13T Substitution - Missense Large_intestine COSM3371126 DNMT1 c.4027G>A p.V1343M Substitution - Missense Small_intestine COSM3378607 SMARCA4 c.3529G>T p.D1177Y Substitution - Missense Pancreas COSM3395783 TAF1L c.4962C>A p.D1654E Substitution - Missense Pancreas COSM3438390 ERCC6 c.1548G>T p.R516S Substitution - Missense Skin COSM3461573 KMT2D c.6119C>T p.P2040L Substitution - Missense Skin COSM3458222 EP400 c.2015C>T p.P672L Substitution - Missense Skin COSM3622303 ARID1B c.6463C>T p.Q2155* Substitution - Nonsense Skin COSM3598852 TET2 c.958G>A p.E320K Substitution - Missense Skin COSM3545553 NCOA6 c.5218C>T p.P1740S Substitution - Missense Skin COSM3518955 MYST2 c.1709G>A p.G570E Substitution - Missense Skin COSM3696911 PHF15 c.1152C>T p.G384G Substitution - coding silent Large_intestine COSM3707753 ACTR5 c.935G>A p.R312Q Substitution - Missense Liver COSM3733500 SMARCA4 c.3565C>G p.R1189G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3734330 SETD1A c.4433G>A p.R1478H Substitution - Missense Pancreas COSM3793167 MPHOSPH8 c.605G>C p.R202T Substitution - Missense Urinary_tract COSM3832352 KMT2C c.5649A>C p.S1883S Substitution - coding silent Breast COSM3838446 IDH1 c.243G>C p.K81N Substitution - Missense Breast COSM3927264 PHF2 c.1911T>A p.F637L Substitution - Missense Skin COSM3925538 NCOA2 c.3505C>T p.R1169C Substitution - Missense Skin COSM3882240 BAZ1B c.108-1G>T p.? Unknown Stomach COSM3965773 PRDM2 c.2971C>G p.P991A Substitution - Missense Central_nervous_system COSM4021553 PRDM2 c.3046G>A p.A1016T Substitution - Missense Prostate COSM4040243 EP400 c.2827+1G>A p.? Unknown Stomach COSM4101918 DNMT3L c.248C>T p.A83V Substitution - Missense Stomach COSM4118118 DHX30 c.2983C>A p.P995T Substitution - Missense Stomach COSM4138731 EYA1 c.992A>G p.E331G Substitution - Missense Stomach COSM4161998 KMT2C c.2726G>A p.R909K Substitution - Missense Upper_aerodigestive_tract COSM4162010 KMT2C c.2573G>T p.W858L Substitution - Missense Thyroid COSM4161068 DAXX c.484A>C p.T162P Substitution - Missense Thyroid COSM4163284 PHF19 c.1336G>T p.V446F Substitution - Missense Thyroid COSM4170427 KMT2D c.7123C>T p.R2375* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4187910 BRDT c.943A>T p.N315Y Substitution - Missense Kidney COSM4292012 CHD6 c.65C>T p.P22L Substitution - Missense Large_intestine COSM4420522 SETMAR c.747C>G p.A249A Substitution - coding silent Central_nervous_system COSM4415207 BAZ2A c.52A>G p.R18G Substitution - Missense Large_intestine COSM4429066 SFMBT2 c.263C>T p.P88L Substitution - Missense Oesophagus COSM4554985 CDYL2 c.638G>A p.G213E Substitution - Missense Skin COSM4520641 ACTB c.1068G>C p.W356C Substitution - Missense Skin COSM4472579 EHMT2 c.1793C>T p.P598L Substitution - Missense Skin COSM4474052 ADNP c.1891C>A p.L631I Substitution - Missense Skin COSM4726199 SIRT4 c.17C>T p.A6V Substitution - Missense Large_intestine COSM4678891 DNMT3A c.1811G>A p.R604Q Substitution - Missense Large_intestine COSM4703490 MTA1 c.2113C>T p.P705S Substitution - Missense Large_intestine COSM4714003 PHF21B c.601_602insTC p.T201fs*84 Insertion - Frameshift Large_intestine COSM4729245 SP110 c.1546C>T p.R516W Substitution - Missense Large_intestine COSM4642832 BRPF1 c.1886A>T p.Q629L Substitution - Missense Large_intestine COSM4771839 SETD5_ENST00000402198 c.2171G>A p.R724H Substitution - Missense Stomach COSM4795603 UHRF2 c.1488G>A p.A496A Substitution - coding silent Liver COSM4791594 AP001011.3_ENST00000320876 c.939G>A p.E313E Substitution - coding silent Liver COSM4802624 AKAP1 c.1616G>A p.S539N Substitution - Missense Liver COSM4890918 SMYD4 c.900G>C p.L300F Substitution - Missense Upper_aerodigestive_tract COSM4934709 PRMT10 c.2388A>G p.E796E Substitution - coding silent Liver COSM4939717 PHF10 c.247C>T p.Q83* Substitution - Nonsense Liver COSM4939943 EYA1 c.632C>T p.S211L Substitution - Missense Liver COSM4940437 NCOA2 c.3841G>A p.G1281S Substitution - Missense Liver COSM4951278 ARID1A c.320_329del10 p.A107fs*4 Deletion - Frameshift Liver COSM4949632 ARID1A c.1918C>G p.P640A Substitution - Missense Liver COSM4986956 PHC1 c.1735C>G p.P579A Substitution - Missense Soft_tissue COSM5033102 SP140_ENST00000392045 c.1240+8C>T p.? Unknown Oesophagus COSM5012378 SUV420H1 c.1150A>C p.T384P Substitution - Missense Kidney COSM5388048 ASXL3 c.2530G>A p.E844K Substitution - Missense Skin COSM5518405 SETD5_ENST00000402198 c.1841G>A p.R614Q Substitution - Missense Biliary_tract COSM5521362 KDM4C c.772C>T p.P258S Substitution - Missense Biliary_tract COSM5519866 PHF16 c.529C>T p.R177C Substitution - Missense Biliary_tract COSM5637706 TIF1 c.1429-1G>T p.? Unknown Oesophagus COSM5720825 ARID1B c.2861C>T p.P954L Substitution - Missense Skin COSM5748960 ZMYM3 c.2206C>T p.R736C Substitution - Missense Pancreas COSM5748960 ZMYM3 c.2206C>T p.R736C Substitution - Missense Pancreas COSM5731842 ATRX c.2469_2470insA p.E824fs*7 Insertion - Frameshift Soft_tissue COSM5603179 CHD9 c.2514C>T p.D838D Substitution - coding silent Skin COSM5609446 MSH6 c.2495T>G p.L832R Substitution - Missense Skin COSM5591229 HCFC1 c.202C>T p.P68S Substitution - Missense Skin COSM5579314 PHIP c.4682C>T p.P1561L Substitution - Missense Skin COSM5656548 HDAC9 c.225G>A p.L75L Substitution - coding silent Soft_tissue COSM5662734 SRCAP c.5040A>G p.T1680T Substitution - coding silent Soft_tissue COSM5696355 HDAC1 c.838+3G>A p.? Unknown Soft_tissue COSM5611427 BAP1 c.511_512insCCACTTTTG p.F170_V171insATF Insertion - In frame Pleura COSM5560542 NIPBL c.1838T>C p.M613T Substitution - Missense Prostate COSM5556950 SP140_ENST00000392045 c.523A>T p.I175L Substitution - Missense Prostate COSM5574330 SMARCB1 c.1142C>G p.T381R Substitution - Missense Central_nervous_system COSM5831355 CDY2B c.223_224insT p.S75fs*18 Insertion - Frameshift Large_intestine COSM5835356 KMT2C c.12995delA p.K4332fs*4 Deletion - Frameshift Breast COSM5878949 TET2 c.1557_1558insGGTAGCAG p.S522fs*14 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5944537 KMT2C c.14302_14303insT p.E4768fs*25 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5909358 BAZ1A c.3620G>A p.R1207K Substitution - Missense Skin COSM5927301 PHC3 c.89G>A p.R30Q Substitution - Missense Skin COSM5937796 DOT1L c.2728C>T p.P910S Substitution - Missense Skin COSM5945959 BAP1 c.1842_1842delG p.M615fs*2 Deletion - Frameshift Eye COSM5946018 KMT2D c.8392G>A p.E2798K Substitution - Missense Urinary_tract COSM5990383 KDM5C c.197C>T p.T66I Substitution - Missense Liver COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM53117 TET2 c.? p.W564* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM42017 TET2 c.3411_3411delG p.E1137fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1737979 BAP1 c.? p.? Unknown Eye COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM30362 SETD2 c.4333A>T p.K1445* Substitution - Nonsense Kidney COSM1747359 ZMYM5 c.806C>T p.S269F Substitution - Missense Urinary_tract COSM3494952 CHD8 c.1842C>T p.L614L Substitution - coding silent Skin COSM4639730 PRDM11 c.718C>T p.R240C Substitution - Missense Large_intestine COSM1173421 PRDM14 c.1351A>G p.I451V Substitution - Missense Oesophagus COSM4274758 ASXL3 c.2050G>T p.E684* Substitution - Nonsense Large_intestine COSM6000869 ZMYM2 c.3454-6T>A p.? Unknown Prostate COSM3975518 NIPBL c.430C>T p.Q144* Substitution - Nonsense Central_nervous_system COSM3548784 DIDO1 c.4451A>C p.K1484T Substitution - Missense Skin COSM5815741 TRIM66 c.1282A>T p.T428S Substitution - Missense Liver COSM1716917 TET2 c.1467_1468insT p.I490fs*14 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM419984 SETD2 c.3376C>T p.H1126Y Substitution - Missense Skin COSM4153811 SND1 c.1878G>A p.A626A Substitution - coding silent Ovary COSM1469997 UTY c.1169G>T p.R390I Substitution - Missense Large_intestine COSM3545555 NCOA6 c.4682A>G p.H1561R Substitution - Missense Skin COSM3113545 SETD1A c.2717C>T p.A906V Substitution - Missense Large_intestine COSM5631501 PCNA c.155T>A p.L52Q Substitution - Missense Oesophagus COSM920531 KAT6B c.3219G>A p.E1073E Substitution - coding silent Endometrium COSM4601809 MGA c.7186G>A p.E2396K Substitution - Missense Upper_aerodigestive_tract COSM5575717 KMT2A c.8717C>A p.P2906H Substitution - Missense Stomach COSM5463423 DUSP1 c.671C>A p.P224H Substitution - Missense Large_intestine COSM1263751 RAG2 c.1374C>T p.C458C Substitution - coding silent Oesophagus COSM4777020 BAZ1A c.1915G>C p.D639H Substitution - Missense Breast COSM3422621 LMNB2 c.342C>T p.S114S Substitution - coding silent Large_intestine COSM1757010 CHD6 c.4893C>T p.C1631C Substitution - coding silent Urinary_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5752683 ARID1A c.6115C>T p.Q2039* Substitution - Nonsense Breast COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM3725462 KDM5C c.4039-4G>A p.? Unknown Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Biliary_tract COSM1696954 KDM1B c.562C>T p.P188S Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5576132 SETD2 c.2168C>A p.P723Q Substitution - Missense Stomach COSM3457089 HNF1A c.235G>A p.E79K Substitution - Missense Skin COSM4705944 NCOA2 c.1195A>G p.S399G Substitution - Missense Large_intestine COSM4574543 PHRF1 c.1791G>A p.A597A Substitution - coding silent Bone COSM293759 MEAF6 c.22G>C p.A8P Substitution - Missense Large_intestine COSM1209417 HDAC9 c.435A>C p.E145D Substitution - Missense Large_intestine COSM3396732 MYST3 c.768G>T p.R256R Substitution - coding silent Prostate COSM3671170 CHD4 c.2273C>T p.T758I Substitution - Missense Prostate COSM3441499 BTAF1 c.938T>C p.L313P Substitution - Missense Skin COSM5009096 TRRAP c.2856C>T p.S952S Substitution - coding silent Large_intestine COSM350272 AIRE c.608G>A p.R203Q Substitution - Missense Lung COSM85916 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM998 SMARCB1 c.1121G>A p.R374Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5997727 KMT2C c.7282G>A p.V2428I Substitution - Missense Prostate COSM41600 ASXL1 c.? p.Q976* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4577259 ZMYM6 c.3626G>A p.R1209H Substitution - Missense Bone COSM2155191 PRDM9 c.939C>A p.A313A Substitution - coding silent Central_nervous_system COSM3386465 CHD8 c.1348C>T p.R450C Substitution - Missense Pancreas COSM87012 DNMT3A c.1903C>T p.R635W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5487294 CHD2 c.2597C>G p.S866W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4828080 BAZ1B c.658C>G p.H220D Substitution - Missense Cervix COSM4385586 TET2 c.2355_2356insT p.H786fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3857244 PRDM1 c.1627G>A p.V543I Substitution - Missense Stomach COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4511686 MGA c.876C>T p.V292V Substitution - coding silent Skin COSM5896847 TDRD6 c.4949G>A p.G1650E Substitution - Missense Skin COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3401706 BAHD1 c.279G>A p.P93P Substitution - coding silent Central_nervous_system COSM4032867 PRDM11 c.1139C>T p.A380V Substitution - Missense Stomach COSM3604081 GABRG1 c.1341C>T p.F447F Substitution - coding silent Skin COSM990724 CARM1 c.333C>T p.F111F Substitution - coding silent Endometrium COSM897120 LMNA c.1201C>T p.R401C Substitution - Missense Stomach COSM145369 EP300 c.5368T>G p.C1790G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1308213 EP300 c.6174C>G p.L2058L Substitution - coding silent Urinary_tract COSM3774230 BAG6 c.1855T>C p.S619P Substitution - Missense Kidney COSM290301 BRDT c.1107C>T p.F369F Substitution - coding silent Endometrium COSM1093672 TRRAP c.8171A>G p.Q2724R Substitution - Missense Endometrium COSM5490625 ARID1A c.5010G>A p.W1670* Substitution - Nonsense Biliary_tract COSM1158009 HDAC9 c.1103C>T p.P368L Substitution - Missense Pancreas COSM5668041 SETD1A c.597C>T p.A199A Substitution - coding silent Soft_tissue COSM6005849 BAZ2B c.104C>G p.S35C Substitution - Missense Small_intestine COSM3517617 KAT2A c.1039G>A p.E347K Substitution - Missense Large_intestine COSM25627 KMT2A c.2880A>G p.I960M Substitution - Missense Lung COSM5429116 KMT2D c.7487_7515del29 p.F2496fs*69 Deletion - Frameshift Oesophagus COSM3526232 MBD1 c.1086C>T p.F362F Substitution - coding silent Large_intestine COSM182706 KDM5D c.1734G>A p.Q578Q Substitution - coding silent Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3642773 TRRAP c.4314G>A p.R1438R Substitution - coding silent Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM921425 BTAF1 c.1312G>T p.G438* Substitution - Nonsense Endometrium COSM4071897 ASXL3 c.1149G>A p.L383L Substitution - coding silent Stomach COSM303879 CTCF c.1130G>A p.R377H Substitution - Missense Endometrium COSM96507 CREBBP c.3837-26_3837-5del22 p.? Unknown Ovary COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3735005 TET2 c.? p.L1258fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM1716184 EZH2 c.? p.A682G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384748 KMT2D c.2882G>A p.G961E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5722289 INOC1 c.721C>T p.P241S Substitution - Missense Skin COSM4040296 EP400 c.8220G>A p.Q2740Q Substitution - coding silent Prostate COSM4878046 POGZ c.721G>A p.V241I Substitution - Missense Prostate COSM51238 ARID1A c.6702_6702delT p.A2235fs*32 Deletion - Frameshift Ovary COSM331816 CREBBP c.6689A>G p.Q2230R Substitution - Missense Lung COSM3674872 SMARCD3 c.380G>T p.R127L Substitution - Missense Prostate COSM5755068 MYST2 c.670G>A p.A224T Substitution - Missense Large_intestine COSM1103 SMARCB1 c.?_?del? p.?del Deletion - In frame Soft_tissue COSM3712532 AKAP1 c.314C>G p.S105* Substitution - Nonsense Upper_aerodigestive_tract COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM946200 RNF17 c.970G>T p.V324F Substitution - Missense Endometrium COSM966443 IDH2 c.476G>A p.R159H Substitution - Missense Endometrium COSM1586687 CHD4 c.2140C>T p.R714* Substitution - Nonsense Endometrium COSM4383771 TET2 c.944delC p.Q317fs*30 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM3389890 DIDO1 c.1784C>G p.P595R Substitution - Missense Pancreas COSM5699856 SMYD1 c.1154A>G p.Y385C Substitution - Missense Soft_tissue COSM211626 TET2 c.4510_4528del19 p.N1504fs*61 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1569654 FMR1 c.595A>G p.I199V Substitution - Missense Large_intestine COSM3992172 CBX6 c.1123A>C p.S375R Substitution - Missense Kidney COSM5726137 PRDM9 c.156G>A p.R52R Substitution - coding silent Skin COSM1673703 KMT2C c.10628G>A p.S3543N Substitution - Missense Large_intestine COSM4701975 MGA c.1122C>T p.N374N Substitution - coding silent Large_intestine COSM2270965 TET2 c.3548_3549delCT p.T1183fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4689713 HDAC7 c.230G>A p.R77Q Substitution - Missense Large_intestine COSM5761148 KMT2C c.2198delC p.S733fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5520926 BAHCC1 c.3624G>C p.G1208G Substitution - coding silent Biliary_tract COSM5605401 ZMYND8 c.1798G>A p.V600I Substitution - Missense Skin COSM692217 EP400 c.9055A>T p.T3019S Substitution - Missense Lung COSM4954248 ZMYND8 c.790A>G p.I264V Substitution - Missense Liver COSM5945064 TET2 c.4544T>A p.L1515* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM34192 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM1301593 CHD2 c.193G>A p.E65K Substitution - Missense Urinary_tract COSM3126262 SMARCA5 c.1904G>A p.G635E Substitution - Missense Large_intestine COSM350211 ZMYND8 c.848G>T p.C283F Substitution - Missense Lung COSM4036083 SUV420H1 c.1442A>G p.K481R Substitution - Missense Stomach COSM221060 KMT2D c.9151C>T p.R3051* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM144634 PHF6 c.? p.C20fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM1734830 BAP1 c.34C>A p.P12T Substitution - Missense Pancreas COSM4729933 SRCAP c.3171G>C p.G1057G Substitution - coding silent Large_intestine COSM5606937 POGZ c.1417T>A p.Y473N Substitution - Missense Skin COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1642887 SHPRH c.277delT p.S93fs*5 Deletion - Frameshift Stomach COSM250152 GATAD2B c.1767C>T p.I589I Substitution - coding silent Breast COSM5347127 ARID1A c.3982C>T p.Q1328* Substitution - Nonsense Endometrium COSM4519557 TDRKH c.1015G>C p.E339Q Substitution - Missense Skin COSM1686590 PHF2 c.1329+1G>A p.? Unknown Skin COSM1484275 TCF20 c.2631C>T p.V877V Substitution - coding silent Breast COSM1168642 ASH1L c.1884G>T p.G628G Substitution - coding silent Pancreas COSM2866875 TRRAP c.10752C>T p.S3584S Substitution - coding silent Large_intestine COSM1709709 ZBTB4 c.2480C>T p.S827F Substitution - Missense Skin COSM1412225 EYA2 c.1108G>A p.V370M Substitution - Missense Large_intestine COSM921430 BTAF1 c.2464G>A p.D822N Substitution - Missense Endometrium COSM3831983 TRIM24 c.3001C>G p.L1001V Substitution - Missense Breast COSM345545 BAP1 c.1081C>G p.L361V Substitution - Missense Lung COSM4675311 CTCF c.556_557delCA p.Q186fs*4 Deletion - Frameshift Large_intestine COSM35704 ING4 c.660G>A p.W220* Substitution - Nonsense Central_nervous_system COSM5800974 PRMT6 c.611_622del12 p.Q206_E209delQELE Deletion - In frame Breast COSM1221891 PRDM5 c.695G>A p.R232Q Substitution - Missense Soft_tissue COSM5653137 TP53BP1 c.1289_1291delCAC p.P430delP Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM4041798 KDM5A c.2098C>T p.L700F Substitution - Missense Stomach COSM241834 TAF1 c.1714_1730del17 p.Y572fs*100 Deletion - Frameshift Prostate COSM3488226 PRDM16 c.2101G>A p.E701K Substitution - Missense Skin COSM4549186 HDAC9 c.349G>A p.E117K Substitution - Missense Skin COSM3959509 SMARCA4 c.2319G>T p.L773L Substitution - coding silent Lung COSM680170 ARID1A c.4101G>A p.Q1367Q Substitution - coding silent Lung COSM1339914 ACTA1 c.726C>T p.Y242Y Substitution - coding silent Large_intestine COSM297625 SETMAR c.1959C>T p.V653V Substitution - coding silent Large_intestine COSM4770835 BAP1 c.1114C>T p.Q372* Substitution - Nonsense Pleura COSM4603617 EZH2 c.?_?ins? p.F728fs*? Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5947531 CHD7 c.5859G>T p.A1953A Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM2739032 NCOR1 c.2357A>G p.D786G Substitution - Missense Large_intestine COSM3736437 STK31 c.781G>A p.E261K Substitution - Missense Large_intestine COSM983325 BPTF c.4108A>G p.R1370G Substitution - Missense Endometrium COSM3767284 ZBTB38 c.1254T>C p.N418N Substitution - coding silent Liver COSM1612005 LMNB2 c.132C>G p.V44V Substitution - coding silent Liver COSM756935 SMC1A c.495G>A p.A165A Substitution - coding silent Lung COSM3563105 ZMYM3 c.2910G>T p.L970L Substitution - coding silent Skin COSM1101456 EYA1 c.794T>C p.I265T Substitution - Missense Endometrium COSM2758214 NCOA6 c.1422G>A p.P474P Substitution - coding silent Stomach COSM3596171 PBRM1 c.3897G>A p.K1299K Substitution - coding silent Skin COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Bone COSM5551816 SETD7 c.625G>T p.D209Y Substitution - Missense Prostate COSM233559 TDRD1 c.2093G>A p.G698E Substitution - Missense Skin COSM4646764 JARID2 c.538C>A p.Q180K Substitution - Missense Large_intestine COSM1443748 RING1 c.646delG p.G217fs*68 Deletion - Frameshift Large_intestine COSM4522481 STK31 c.1165G>A p.D389N Substitution - Missense Skin COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM277428 SP140_ENST00000392045 c.1257A>T p.E419D Substitution - Missense Large_intestine COSM1686951 RERE c.4427C>T p.P1476L Substitution - Missense Skin COSM1716180 EZH2 c.? p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1342962 DMAP1 c.1199G>A p.R400Q Substitution - Missense Large_intestine COSM5974419 PHF21B c.734C>T p.T245M Substitution - Missense Upper_aerodigestive_tract COSM132978 ASXL1 c.? p.R965* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1262064 PHF21B c.1158G>A p.A386A Substitution - coding silent Oesophagus COSM4054473 INOC1 c.1429C>T p.R477* Substitution - Nonsense Stomach COSM1378189 BRD7 c.1015G>A p.E339K Substitution - Missense Large_intestine COSM1437278 NIPBL c.4261C>T p.P1421S Substitution - Missense Large_intestine COSM716476 MBD5 c.969A>G p.I323M Substitution - Missense Lung COSM1169379 ASXL1 c.? p.Q708* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1028996 DIDO1 c.1217C>T p.A406V Substitution - Missense Endometrium COSM1047343 ACTR8 c.645G>A p.A215A Substitution - coding silent Endometrium COSM464480 ZMYM6 c.2015T>A p.M672K Substitution - Missense Kidney COSM724353 NCOA3 c.2768C>A p.P923Q Substitution - Missense Lung COSM80159 MBTD1 c.1176A>G p.Q392Q Substitution - coding silent Central_nervous_system COSM485219 STK31 c.2412G>A p.M804I Substitution - Missense Kidney COSM4119141 PBRM1 c.3869A>T p.Y1290F Substitution - Missense Stomach COSM4494357 TDRD6 c.4317C>T p.S1439S Substitution - coding silent Skin COSM4134943 PRDM15 c.3096G>T p.K1032N Substitution - Missense Thyroid COSM4666137 BRD9 c.330G>A p.A110A Substitution - coding silent Large_intestine COSM1472509 PRDM2 c.831_832insGAA p.E282_D283insE Insertion - In frame Upper_aerodigestive_tract COSM383536 KMT2C c.7615C>T p.Q2539* Substitution - Nonsense Lung COSM269568 MECP2 c.1060C>T p.R354C Substitution - Missense Large_intestine COSM1012908 ASXL1 c.1879_1880insG p.A627fs*8 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2834879 CHD9 c.4093A>G p.M1365V Substitution - Missense Upper_aerodigestive_tract COSM1564071 INO80C c.563C>T p.T188M Substitution - Missense Large_intestine COSM5388583 SMARCA4 c.2262C>T p.L754L Substitution - coding silent Skin COSM2270790 MGA c.2246G>A p.G749E Substitution - Missense Large_intestine COSM3905417 BRD3 c.1675G>A p.A559T Substitution - Missense Stomach COSM1709989 RAI1 c.2486C>T p.P829L Substitution - Missense Skin COSM5078461 ADNP c.64_65insA p.I22fs*3 Insertion - Frameshift Large_intestine COSM5802772 PHF3 c.3713A>C p.D1238A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM443344 SMYD1 c.1441C>G p.P481A Substitution - Missense Breast COSM5348559 ARID1A c.4996_4997insA p.T1666fs*32 Insertion - Frameshift Liver COSM4544709 PRMT8 c.361G>A p.G121S Substitution - Missense Skin COSM4492856 CARM1 c.404C>T p.S135F Substitution - Missense Skin COSM4584532 BAP1 c.705C>T p.P235P Substitution - coding silent Bone COSM4383766 TET2 c.693delT p.Q232fs*18 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM135884 ZMYND8 c.2335G>A p.E779K Substitution - Missense Skin COSM1735694 KMT2D c.? p.? Substitution - Missense Central_nervous_system COSM88749 CREBBP c.4336C>T p.R1446C Substitution - Missense Lung COSM13394 MSH6 c.3261_3262insC p.F1088fs*5 Insertion - Frameshift Large_intestine COSM1325352 LMNB2 c.530A>T p.Q177L Substitution - Missense Soft_tissue COSM5759082 SMARCC2 c.430C>A p.L144M Substitution - Missense Bone COSM2890660 PRMT2 c.509G>T p.S170I Substitution - Missense Large_intestine COSM5567499 SMCHD1 c.3244T>C p.S1082P Substitution - Missense Prostate COSM4609548 ATRX c.5787-1G>T p.? Unknown Adrenal_gland COSM144569 PHF6 c.835_835delA p.K279fs*16 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3599588 PRDM5 c.847C>A p.Q283K Substitution - Missense Skin COSM3820324 BPTF c.751G>A p.E251K Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1248195 CHD1 c.2090G>A p.R697Q Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM4499564 BRDT c.533C>T p.P178L Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM4074990 BRD4 c.330A>T p.I110I Substitution - coding silent Stomach COSM1333889 SETDB1 c.1028G>A p.R343H Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5473390 ARID2 c.2775C>T p.S925S Substitution - coding silent Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1377474 SRCAP c.5625_5626insC p.P1879fs*21 Insertion - Frameshift Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM108121 PHF21A c.1674C>T p.I558I Substitution - coding silent Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4689184 GTF3C1 c.2479A>G p.S827G Substitution - Missense Large_intestine COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3962593 HDAC4 c.2087G>T p.G696V Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3068953 SETD2 c.3817C>T p.L1273L Substitution - coding silent Upper_aerodigestive_tract COSM4118108 DHX30 c.1490T>C p.V497A Substitution - Missense Stomach COSM4153119 TRRAP c.7196T>C p.F2399S Substitution - Missense Kidney COSM1136807 DIDO1 c.5423C>T p.P1808L Substitution - Missense Kidney COSM1723480 BRD3 c.1154C>T p.S385L Substitution - Missense Skin COSM4606748 TRIM33 c.1652A>G p.Q551R Substitution - Missense Adrenal_gland COSM5608288 DNMT3A c.2134G>T p.D712Y Substitution - Missense Skin COSM99740 DNMT3A c.2645G>C p.R882P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2726751 PHF6 c.506A>C p.K169T Substitution - Missense Large_intestine COSM1383602 HDAC5 c.1696_1697insG p.E566fs*15 Insertion - Frameshift Large_intestine COSM5587962 HCFC1 c.2823G>A p.G941G Substitution - coding silent Skin COSM1211249 JARID2 c.1523C>T p.T508M Substitution - Missense Large_intestine COSM85820 ATRX c.5932_5932delT p.S1978fs*4 Deletion - Frameshift Pancreas COSM4491759 KDM4A c.385C>T p.P129S Substitution - Missense Skin COSM3304524 KMT2C c.1576C>T p.R526C Substitution - Missense Stomach COSM5574188 DNMT3B c.2292G>T p.R764S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5983820 CHD8 c.4652G>A p.W1551* Substitution - Nonsense Upper_aerodigestive_tract COSM5769483 SMARCD2 c.906C>A p.Y302* Substitution - Nonsense Breast COSM1381235 RAI1 c.2391delC p.P799fs*20 Deletion - Frameshift Large_intestine COSM4489101 ATF7IP c.342C>T p.P114P Substitution - coding silent Skin COSM4773795 SHPRH c.611C>A p.P204Q Substitution - Missense Stomach COSM3523601 BAHCC1 c.7377C>T p.P2459P Substitution - coding silent Skin COSM3915043 ZBTB38 c.2620C>T p.P874S Substitution - Missense Skin COSM1167991 ARID2 c.890C>T p.S297F Substitution - Missense Skin COSM181348 PRDM2 c.846A>T p.E282D Substitution - Missense Large_intestine COSM3414701 TDRD1 c.1527C>A p.F509L Substitution - Missense Large_intestine COSM716468 MBD5 c.3547G>C p.E1183Q Substitution - Missense Lung COSM4154363 SUV420H2 c.525G>C p.L175L Substitution - coding silent Kidney COSM1341877 PRDM16 c.1532delC p.G513fs*27 Deletion - Frameshift Large_intestine COSM1245614 ASXL3 c.2545T>G p.L849V Substitution - Missense Oesophagus COSM110007 MECOM c.1841G>A p.G614E Substitution - Missense Skin COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM23053 MEN1 c.912+1delG p.? Unknown Parathyroid COSM43442 TET2 c.5104C>T p.Q1702* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM51446 ARID1A c.1177C>T p.Q393* Substitution - Nonsense Ovary COSM82066 CHD6 c.2361G>A p.L787L Substitution - coding silent Ovary COSM75541 MYST2 c.935G>C p.R312T Substitution - Missense Ovary COSM117035 LMNA c.1740C>A p.N580K Substitution - Missense Ovary COSM116301 HDAC3 c.526G>C p.G176R Substitution - Missense Ovary COSM87130 TET2 c.3781C>T p.R1261C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM133732 DNMT3A c.2312G>A p.R771Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM212579 ZMYM6 c.1630G>C p.D544H Substitution - Missense Breast COSM216690 KDM3B c.2890A>G p.S964G Substitution - Missense Pancreas COSM233216 PYGO2 c.574C>T p.P192S Substitution - Missense Skin COSM225109 TAF1 c.2527C>T p.R843W Substitution - Missense Endometrium COSM246763 PRDM13 c.383C>A p.T128N Substitution - Missense Prostate COSM238471 ZGPAT c.1296C>T p.A432A Substitution - coding silent Prostate COSM255924 KMT2D c.11771_11772insGGTCAGCT p.G3925fs*23 Insertion - Frameshift Central_nervous_system COSM255057 KMT2A c.5972_5991del20 p.E1992fs*4 Deletion - Frameshift Urinary_tract COSM251386 ARID1A c.2184_2198>T p.P728fs Complex Liver COSM263091 PRDM9 c.1365G>T p.E455D Substitution - Missense Large_intestine COSM263955 TAF1 c.2477G>A p.R826Q Substitution - Missense Large_intestine COSM298373 PHF2 c.281G>A p.R94Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM415824 KMT2D c.6328C>T p.Q2110* Substitution - Nonsense Urinary_tract COSM1497043 UHRF2 c.154-2A>T p.? Unknown Kidney COSM474436 DOT1L c.1404G>A p.Q468Q Substitution - coding silent Kidney COSM1600585 TRIM33 c.267T>C p.V89V Substitution - coding silent Liver COSM564791 CARM1 c.605C>T p.A202V Substitution - Missense Skin COSM1050496 PRDM5 c.1609C>T p.R537C Substitution - Missense Endometrium COSM937191 EP400 c.8925C>T p.Y2975Y Substitution - coding silent Endometrium COSM750332 MYST3 c.623T>C p.I208T Substitution - Missense Lung COSM907766 ARID1A c.6806C>A p.S2269* Substitution - Nonsense Endometrium COSM908387 PRDM16 c.3543C>T p.G1181G Substitution - coding silent Endometrium COSM946191 RNF17 c.715G>A p.A239T Substitution - Missense Endometrium COSM1039196 ZBTB38 c.929C>A p.P310Q Substitution - Missense Endometrium COSM1600197 TRRAP c.3122T>A p.F1041Y Substitution - Missense Central_nervous_system COSM1041413 TBL1XR1 c.1046C>T p.T349M Substitution - Missense Salivary_gland COSM1122183 HDAC6 c.899G>A p.G300D Substitution - Missense Endometrium COSM1127585 HCFC2 c.1423C>T p.H475Y Substitution - Missense Prostate COSM1131335 SETD5_ENST00000402198 c.627G>A p.R209R Substitution - coding silent Prostate COSM1129219 INOC1 c.523A>C p.S175R Substitution - Missense Prostate COSM1241790 STK31 c.2456C>T p.A819V Substitution - Missense Oesophagus COSM1182083 ADNP c.2978C>T p.P993L Substitution - Missense Large_intestine COSM1184486 BAZ2A c.472C>A p.P158T Substitution - Missense Large_intestine COSM1225343 SETD1A c.2233C>T p.R745W Substitution - Missense Large_intestine COSM1268373 TP53BP1 c.221G>A p.G74E Substitution - Missense Stomach COSM1448542 JHDM1D c.1159A>G p.R387G Substitution - Missense Large_intestine COSM1453208 TRRAP c.8193G>A p.A2731A Substitution - coding silent Large_intestine COSM1458064 NCOA2 c.3956C>T p.T1319M Substitution - Missense Large_intestine COSM1492690 KDM2A c.1469C>T p.A490V Substitution - Missense Kidney COSM1629135 SETDB2 c.1397A>G p.N466S Substitution - Missense Liver COSM1638979 RSF1 c.1158delA p.K386fs*6 Deletion - Frameshift Stomach COSM1680371 MBD2 c.549T>G p.S183R Substitution - Missense Large_intestine COSM1683032 MECP2 c.461A>G p.D154G Substitution - Missense Ovary COSM1723061 DIDO1 c.4927_4928insC p.R1643fs*37 Insertion - Frameshift Large_intestine COSM1664170 SIRT4 c.467G>A p.R156H Substitution - Missense Kidney COSM1736983 CHD4 c.1031A>G p.K344R Substitution - Missense Central_nervous_system COSM1743242 EHMT1 c.3560A>T p.D1187V Substitution - Missense Biliary_tract COSM1734395 NIPBL c.7912G>T p.E2638* Substitution - Nonsense Pancreas COSM1735103 BPTF c.2590_2591insA p.E867fs*23 Insertion - Frameshift Pancreas COSM1965157 KAT6B c.4232A>G p.E1411G Substitution - Missense Skin COSM1989199 MBD6 c.89G>A p.R30Q Substitution - Missense Skin COSM2874668 NCOA2 c.249C>T p.I83I Substitution - coding silent Large_intestine COSM2894204 ATF2 c.1332G>A p.P444P Substitution - coding silent Large_intestine COSM2910873 ING5 c.152C>T p.S51F Substitution - Missense Skin COSM3295059 NCOA3 c.3417G>A p.M1139I Substitution - Missense Large_intestine COSM3360810 ARID1A c.6066A>C p.P2022P Substitution - coding silent Kidney COSM3393133 PHF15 c.406C>T p.R136C Substitution - Missense Small_intestine COSM3397262 TAF3 c.921A>G p.K307K Substitution - coding silent Central_nervous_system COSM3637049 HDAC9 c.1628G>A p.G543E Substitution - Missense Skin COSM3514564 NCOR1 c.1706C>T p.P569L Substitution - Missense Skin COSM3653748 PHF19 c.729C>T p.C243C Substitution - coding silent Skin COSM3650681 NCOA2 c.4053C>T p.S1351S Substitution - coding silent Skin COSM3717443 MYST2 c.179G>T p.R60L Substitution - Missense Liver COSM3744852 NIPBL c.5227A>T p.M1743L Substitution - Missense Liver COSM3778563 BAZ1B c.1032G>A p.K344K Substitution - coding silent Urinary_tract COSM3801353 TRIM33 c.1338G>A p.R446R Substitution - coding silent Breast COSM3818891 NCOR1 c.3325G>A p.E1109K Substitution - Missense Breast COSM3912954 PHF21B c.1500G>A p.T500T Substitution - coding silent Oesophagus COSM3925547 EYA1 c.775C>G p.Q259E Substitution - Missense Skin COSM3907054 KIAA1045 c.677A>G p.Y226C Substitution - Missense Stomach COSM4045327 PHC1 c.623T>C p.L208S Substitution - Missense Stomach COSM4049837 CHD8 c.6667T>C p.S2223P Substitution - Missense Stomach COSM3992856 PHC3 c.980C>T p.P327L Substitution - Missense Kidney COSM3996064 MYST3 c.3796A>C p.K1266Q Substitution - Missense Kidney COSM4101593 BRWD1 c.4321C>T p.R1441W Substitution - Missense Stomach COSM4097569 ASXL1 c.4315G>A p.A1439T Substitution - Missense Stomach COSM4129608 NCOR1 c.571G>A p.E191K Substitution - Missense Upper_aerodigestive_tract COSM4136945 NCOA3 c.3651+6G>C p.? Unknown Ovary COSM4147509 PHC1 c.415T>C p.S139P Substitution - Missense Thyroid COSM4153121 TRRAP c.8328A>C p.E2776D Substitution - Missense Kidney COSM4153028 FXR1 c.1308T>A p.R436R Substitution - coding silent Kidney COSM4168948 BAZ2A c.4375C>G p.L1459V Substitution - Missense Peritoneum COSM4170847 KDM6B c.416G>A p.S139N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4187452 HDAC9 c.2732T>C p.L911S Substitution - Missense Kidney COSM4385601 TET2 c.4154_4155insT p.L1385fs*16 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4384742 KMT2D c.3896_3901delTGGTGC p.L1299_V1300delLV Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM4392802 BAZ1B c.2077C>T p.R693W Substitution - Missense Prostate COSM4401723 EYA2 c.1283C>T p.S428F Substitution - Missense Skin COSM4598654 KMT2D c.5810C>T p.A1937V Substitution - Missense Upper_aerodigestive_tract COSM4563246 SMYD3 c.787G>A p.D263N Substitution - Missense Skin COSM4484796 TAF1 c.2790C>T p.A930A Substitution - coding silent Skin COSM4510480 EP400 c.8390C>T p.P2797L Substitution - Missense Skin COSM4587102 SND1 c.2326C>T p.R776C Substitution - Missense Bone COSM4500211 KDM4A c.55C>T p.P19S Substitution - Missense Skin COSM4456687 SRCAP c.1018C>T p.P340S Substitution - Missense Skin COSM4732004 TAF3 c.2706A>T p.P902P Substitution - coding silent Large_intestine COSM4765107 ARID1A c.5542_5543insG p.D1850fs*4 Insertion - Frameshift Stomach COSM4713965 PHF19 c.32G>A p.R11Q Substitution - Missense Large_intestine COSM4771406 DAXX c.1442A>C p.D481A Substitution - Missense Breast COSM4752411 NCOA6 c.1170T>G p.F390L Substitution - Missense Stomach COSM4801578 ZMYND11 c.518A>G p.Y173C Substitution - Missense Liver COSM4936472 SMARCA4 c.878C>T p.A293V Substitution - Missense Liver COSM4827606 ASXL3 c.1620G>A p.L540L Substitution - coding silent Cervix COSM4817460 NIPBL c.7330G>A p.E2444K Substitution - Missense Cervix COSM4960516 CHD7 c.5469G>A p.M1823I Substitution - Missense Liver COSM4963751 MEN1 c.912+1G>T p.? Unknown Pancreas COSM5020537 KMT2C c.14550G>A p.S4850S Substitution - coding silent Soft_tissue COSM5009092 TRRAP c.1146C>T p.L382L Substitution - coding silent Large_intestine COSM5057228 ASXL1 c.1204C>T p.R402* Substitution - Nonsense Stomach COSM5346990 ARID1A c.3220C>T p.R1074W Substitution - Missense Endometrium COSM5346997 ARID1A c.2732G>T p.R911M Substitution - Missense Endometrium COSM5347003 ARID1A c.5299G>T p.E1767* Substitution - Nonsense Endometrium COSM5351685 ASXL1 c.1897_1898insT p.H633fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5351715 TET2 c.3746C>A p.T1249N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5394454 MBD5 c.64C>T p.P22S Substitution - Missense Skin COSM5508280 PCGF1 c.257T>G p.L86R Substitution - Missense Biliary_tract COSM5462311 ZMYM2 c.1815C>T p.Y605Y Substitution - coding silent Large_intestine COSM5468269 HDAC2 c.619C>A p.P207T Substitution - Missense Large_intestine COSM5437043 TAF3 c.612G>A p.T204T Substitution - coding silent Biliary_tract COSM5647979 SMARCA1 c.2251C>T p.R751* Substitution - Nonsense Oesophagus COSM5640782 TCF19 c.344C>G p.S115W Substitution - Missense Oesophagus COSM5751989 DNMT3A c.1279_1279+1insC p.E427fs*18 Unknown Haematopoietic_and_lymphoid_tissue COSM5718719 CHD8 c.3358C>T p.P1120S Substitution - Missense Skin COSM5607833 ARID1A c.1722C>T p.S574S Substitution - coding silent Skin COSM5587960 HCFC1 c.3286C>T p.L1096F Substitution - Missense Skin COSM5679873 NCOA2 c.770C>T p.P257L Substitution - Missense Soft_tissue COSM5665909 MBD5 c.4133A>G p.Y1378C Substitution - Missense Soft_tissue COSM5749528 EP400 c.1162A>T p.I388F Substitution - Missense Genital_tract COSM5704455 ARID2 c.5046_5047delTA p.I1683fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41748 TET2 c.5687G>T p.R1896M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5772129 HDAC5 c.2271C>T p.L757L Substitution - coding silent Breast COSM5785172 ELP3 c.696A>C p.L232F Substitution - Missense Breast COSM5787361 NIPBL c.7524T>G p.D2508E Substitution - Missense Breast COSM5826234 ACTR8 c.779-3delC p.? Unknown Large_intestine COSM5880302 PHF6 c.631A>T p.K211* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5817042 SETD5_ENST00000402198 c.3964A>T p.S1322C Substitution - Missense Liver COSM5902123 NCOA6 c.1529-8C>T p.? Unknown Skin COSM5893377 KDM4C c.2038G>A p.G680R Substitution - Missense Skin COSM5910710 SFMBT2 c.379G>A p.D127N Substitution - Missense Skin COSM5922947 ARID2 c.3161C>T p.S1054F Substitution - Missense Skin COSM5979284 ARID1B c.1612G>A p.G538S Substitution - Missense Upper_aerodigestive_tract COSM5989972 EZH2 c.1852-2A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM6002857 BPTF c.4004A>G p.E1335G Substitution - Missense Prostate COSM6018270 L3MBTL2 c.1175-1G>A p.? Unknown Skin COSM5994796 PBRM1 c.171C>G p.I57M Substitution - Missense Prostate COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM5967248 TET2 c.? p.C1271fs*91 Frameshift Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51384 IDH1 c.? p.R132L Substitution - Missense Central_nervous_system COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43413 TET2 c.?_?ins? p.?fs Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5042624 MSL3 c.1303C>T p.P435S Substitution - Missense Liver COSM1088618 STK31 c.559A>G p.T187A Substitution - Missense Endometrium COSM1194158 HDAC10 c.782C>T p.S261L Substitution - Missense Liver COSM3237263 KDM3B c.351G>A p.W117* Substitution - Nonsense Large_intestine COSM4440696 TBL1XR1 c.1256C>T p.S419F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3777569 DAXX c.810C>T p.R270R Substitution - coding silent Urinary_tract COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM4564375 SCML2 c.1153_1154CC>TT p.P385L Substitution - Missense Skin COSM1226920 SMYD4 c.608G>A p.S203N Substitution - Missense Large_intestine COSM292130 GLYR1 c.990C>T p.C330C Substitution - coding silent Large_intestine COSM464363 ARID1A c.3016G>T p.E1006* Substitution - Nonsense Kidney COSM3097869 BRWD3 c.768C>T p.P256P Substitution - coding silent Large_intestine COSM4139829 ZBTB4 c.239C>T p.T80I Substitution - Missense Ovary COSM949289 YY1 c.802A>G p.I268V Substitution - Missense Endometrium COSM4805895 MEN1 c.1023G>A p.W341* Substitution - Nonsense Liver COSM4961604 CHD7 c.7683A>G p.G2561G Substitution - coding silent Pancreas COSM381111 KIAA1045 c.438G>A p.P146P Substitution - coding silent Soft_tissue COSM4526907 BRDT c.1415G>A p.R472K Substitution - Missense Skin COSM5569526 MPHOSPH8 c.719C>T p.T240M Substitution - Missense Prostate COSM5643716 KDM6B c.3316C>T p.R1106W Substitution - Missense Oesophagus COSM1173129 PRDM9 c.2588G>A p.R863K Substitution - Missense Oesophagus COSM252832 SMARCA4 c.1615C>T p.R539C Substitution - Missense Ovary COSM1299141 EP400 c.1117T>C p.Y373H Substitution - Missense Urinary_tract COSM4080441 KDM4B c.1019C>T p.T340M Substitution - Missense Stomach COSM4578070 UBR7 c.466G>A p.V156I Substitution - Missense Bone COSM954560 PRMT5 c.1909C>A p.L637I Substitution - Missense Endometrium COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM3876913 MLL5 c.4881C>A p.P1627P Substitution - coding silent Stomach COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM1737465 CHD6 c.1387G>A p.E463K Substitution - Missense Central_nervous_system COSM5553770 SMARCA4 c.231G>A p.E77E Substitution - coding silent Prostate COSM5014657 ARID1B c.2729A>T p.Q910L Substitution - Missense Kidney COSM3749667 MSH6 c.116G>A p.G39E Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM3704573 RNF17 c.784-10T>A p.? Unknown Liver COSM4779988 RNF17 c.733A>G p.R245G Substitution - Missense Liver COSM5471507 HDAC4 c.111G>A p.A37A Substitution - coding silent Large_intestine COSM3997843 MGMT c.250C>T p.L84F Substitution - Missense Soft_tissue COSM1624855 SMARCA2 c.3502G>A p.E1168K Substitution - Missense Pancreas COSM5743414 BTAF1 c.5495A>C p.Q1832P Substitution - Missense Small_intestine COSM5611643 SP100 c.1679C>G p.T560S Substitution - Missense Adrenal_gland COSM1377034 GTF3C1 c.1092C>T p.F364F Substitution - coding silent Large_intestine COSM1205373 EP300 c.3548G>A p.C1183Y Substitution - Missense Large_intestine COSM5990637 ARID1A c.5794G>A p.A1932T Substitution - Missense Liver COSM1602137 ARID1A c.997G>A p.A333T Substitution - Missense Large_intestine COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3237311 KDM3B c.2180C>T p.S727L Substitution - Missense Large_intestine COSM24931 HNF1A c.620G>A p.G207D Substitution - Missense Liver COSM1158181 PRDM14 c.1247A>C p.D416A Substitution - Missense Pancreas COSM5492138 EYA4 c.1817A>G p.E606G Substitution - Missense Biliary_tract COSM5953391 GLYATL1 c.406+5C>T p.? Unknown Oesophagus COSM1100773 CHD7 c.400C>T p.H134Y Substitution - Missense Endometrium COSM211757 TET2 c.2586_2587insG p.H863fs*9 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3461551 KMT2D c.8096C>T p.S2699L Substitution - Missense Skin COSM84835 MECOM c.675G>T p.M225I Substitution - Missense Pancreas COSM4664728 ATXN7 c.2333_2334insC p.T781fs*6 Insertion - Frameshift Large_intestine COSM3427675 DHX30 c.697G>A p.D233N Substitution - Missense Urinary_tract COSM1239175 JARID2 c.1266delG p.R425fs*36 Deletion - Frameshift Large_intestine COSM5514515 JARID2 c.520G>A p.V174M Substitution - Missense Biliary_tract COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Large_intestine COSM5720544 HDGFL1 c.682G>A p.E228K Substitution - Missense Skin COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3666245 PRMT3 c.247+7A>T p.? Unknown Liver COSM1719242 KDM1B c.1531G>A p.E511K Substitution - Missense Skin COSM6003166 CBX2 c.402C>T p.P134P Substitution - coding silent Prostate COSM3779892 PSIP1 c.853G>A p.E285K Substitution - Missense Urinary_tract COSM3493333 BRDT c.1534T>C p.Y512H Substitution - Missense Skin COSM4799684 SRCAP c.67G>C p.G23R Substitution - Missense Liver COSM1666833 CBX4 c.1514T>C p.V505A Substitution - Missense Central_nervous_system COSM1642923 JARID2 c.412delC p.P139fs*168 Deletion - Frameshift Stomach COSM929419 PHRF1 c.4564G>A p.A1522T Substitution - Missense Endometrium COSM5944125 DNMT3A c.2510_2511insT p.N838fs*17 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3092571 PHF8 c.353A>G p.E118G Substitution - Missense Lung COSM1195919 HCFC1 c.5196C>A p.F1732L Substitution - Missense Lung COSM709705 BRD4 c.2094C>G p.F698L Substitution - Missense Lung COSM5947555 CREBBP c.4391T>A p.L1464* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM897120 LMNA c.1201C>T p.R401C Substitution - Missense Bone COSM2098394 CHD4 c.4139G>A p.R1380H Substitution - Missense Large_intestine COSM5358908 CHD7 c.5221C>G p.R1741G Substitution - Missense Large_intestine COSM5822922 TDRD10 c.554G>T p.W185L Substitution - Missense Liver COSM987923 ASXL3 c.2160G>T p.K720N Substitution - Missense Endometrium COSM2152534 PRDM15 c.985G>A p.G329S Substitution - Missense Central_nervous_system COSM3674156 WHSC1 c.3377G>A p.R1126H Substitution - Missense Prostate COSM1444079 BRPF3 c.1708C>T p.R570W Substitution - Missense Large_intestine COSM1169579 PBRM1 c.1316_1316delA p.N439fs*7 Deletion - Frameshift Kidney COSM4753607 RTF1 c.1258C>T p.R420W Substitution - Missense Prostate COSM1215202 KMT2D c.2953C>T p.R985W Substitution - Missense Liver COSM1961401 LBR c.541G>T p.D181Y Substitution - Missense Large_intestine COSM1727600 ARID1A c.2378_2379delTG p.M793fs*23 Deletion - Frameshift Liver COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1030935 PRDM15 c.3690C>T p.C1230C Substitution - coding silent Stomach COSM4524783 KDM2B c.208G>T p.G70C Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4097555 ASXL1 c.2382T>G p.T794T Substitution - coding silent Stomach COSM144554 DNMT3A c.? p.T503A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3724502 ASXL1 c.1190_1191insG p.G398fs*12 Insertion - Frameshift Ovary COSM254609 CHD6 c.1717G>A p.V573I Substitution - Missense Urinary_tract COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1583121 DNMT3A c.2339T>C p.I780T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3353049 TDRD6 c.633C>T p.R211R Substitution - coding silent Stomach COSM1051634 SMARCA5 c.2953T>C p.F985L Substitution - Missense Endometrium COSM1159754 CREBBP c.4492C>T p.R1498* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM2080210 ZMYM4 c.402delA p.D137fs*21 Deletion - Frameshift Large_intestine COSM1012894 ASXL1 c.2083C>T p.Q695* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5691119 RNF134 c.84delT p.V29fs*73 Deletion - Frameshift Soft_tissue COSM1600852 GATAD2B c.1005A>G p.P335P Substitution - coding silent Liver COSM1080047 CDYL c.478G>A p.E160K Substitution - Missense Large_intestine COSM1453180 TRRAP c.4948C>T p.R1650* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5944980 DNMT3A c.981G>A p.W327* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM97134 PRDM1 c.733_734delGA p.D245fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM6007813 KDM5A c.3322G>C p.E1108Q Substitution - Missense Prostate COSM1240003 RAI1 c.3235G>A p.A1079T Substitution - Missense Oesophagus COSM1190485 BRD1 c.1603G>A p.A535T Substitution - Missense Lung COSM3863734 TDRD5 c.1691G>A p.G564E Substitution - Missense Skin COSM1088802 CBX3 c.36A>G p.G12G Substitution - coding silent Endometrium COSM5787785 PRDM10 c.2041G>C p.D681H Substitution - Missense Breast COSM5649501 TET2 c.4447G>C p.E1483Q Substitution - Missense Oesophagus COSM5737707 PRDM13 c.1169C>A p.P390H Substitution - Missense Small_intestine COSM28815 KDM6A c.1_4206del4206 p.0? Whole gene deletion Oesophagus COSM1677121 MBD6 c.347G>T p.S116I Substitution - Missense Large_intestine COSM1085999 TRIM24 c.2050C>T p.R684C Substitution - Missense Endometrium COSM3439575 JMJD1C c.5056A>G p.T1686A Substitution - Missense Skin COSM988380 SETBP1 c.2003A>C p.K668T Substitution - Missense Stomach COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4003461 NSD1 c.6829T>C p.L2277L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM96933 ATRX c.6457C>T p.R2153C Substitution - Missense Central_nervous_system COSM4611662 PHF14 c.540delA p.K182fs*19 Deletion - Frameshift Large_intestine COSM5343047 CBX4 c.1586C>T p.S529L Substitution - Missense Large_intestine COSM3283339 BRD4 c.118G>A p.A40T Substitution - Missense Oesophagus COSM4134435 ASXL1 c.3759T>C p.S1253S Substitution - coding silent Thyroid COSM1372743 INOC1 c.1701G>A p.W567* Substitution - Nonsense Large_intestine COSM3464374 CHD4 c.3132C>T p.A1044A Substitution - coding silent Skin COSM1317546 ARID1A c.4973G>A p.R1658Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87129 TET2 c.3732_3733delCT p.Y1245fs*22 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM932202 RSF1 c.1645G>T p.D549Y Substitution - Missense Endometrium COSM2175134 SIRT4 c.482A>G p.H161R Substitution - Missense Large_intestine COSM1045505 SETD2 c.77G>T p.R26I Substitution - Missense Large_intestine COSM917039 BMI1 c.766G>A p.D256N Substitution - Missense Endometrium COSM1125416 ATRX c.5427G>A p.E1809E Substitution - coding silent Endometrium COSM4481984 CREBBP c.2562C>T p.H854H Substitution - coding silent Skin COSM53018 EZH2 c.1966_1966delG p.A656fs*19 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4717460 PRDM13 c.708G>A p.S236S Substitution - coding silent Large_intestine COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5730597 SETD2 c.3620delG p.R1207fs*10 Deletion - Frameshift Breast COSM1046994 BAP1 c.1195G>A p.D399N Substitution - Missense Endometrium COSM3912893 EP300 c.4060C>T p.P1354S Substitution - Missense Skin COSM2145539 ERCC6 c.309C>T p.D103D Substitution - coding silent Cervix COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87260 IKZF1 c.41-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2182782 SETDB1 c.3372G>A p.S1124S Substitution - coding silent Large_intestine COSM144595 KMT2D c.3698C>G p.T1233S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4934881 CREBBP c.3695A>G p.N1232S Substitution - Missense Liver COSM42016 TET2 c.4393C>T p.R1465* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3359760 KMT2D c.9796C>T p.R3266C Substitution - Missense Stomach COSM5648833 ZMYM4 c.3769C>G p.Q1257E Substitution - Missense Oesophagus COSM3993989 KDM3B c.681T>C p.R227R Substitution - coding silent Kidney COSM1381120 NCOR1 c.6446C>A p.P2149H Substitution - Missense Large_intestine COSM1330937 CHD7 c.4142G>T p.C1381F Substitution - Missense Ovary COSM5782740 KMT2D c.13387G>A p.E4463K Substitution - Missense Breast COSM4959347 GTF3C1 c.4090G>A p.A1364T Substitution - Missense Liver COSM4778705 SETDB2 c.1715G>A p.S572N Substitution - Missense Liver COSM466400 KMT2A c.6138T>A p.P2046P Substitution - coding silent Kidney COSM1565814 PHF20 c.898C>T p.R300C Substitution - Missense Large_intestine COSM4640275 CHD6 c.6709G>A p.A2237T Substitution - Missense Large_intestine COSM127803 DIDO1 c.1740A>C p.T580T Substitution - coding silent Thyroid COSM4015090 JMJD1C c.6217C>T p.P2073S Substitution - Missense Stomach COSM1179669 KMT2C c.943G>A p.G315S Substitution - Missense Soft_tissue COSM4113235 RUVBL1 c.687C>T p.H229H Substitution - coding silent Stomach COSM458074 ATRX c.4152T>A p.F1384L Substitution - Missense Breast COSM5415911 TET2 c.? p.Q969P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34090 IDH2 c.516G>T p.R172S Substitution - Missense Biliary_tract COSM132891 TET2 c.2246_2249delAAAT p.I750fs*62 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5894395 JARID2 c.46-3C>T p.? Unknown Skin COSM3704308 MBD6 c.2820+10G>T p.? Unknown Liver COSM3431456 HDAC9 c.433G>T p.E145* Substitution - Nonsense Large_intestine COSM1704238 DPF2 c.281C>T p.S94F Substitution - Missense Skin COSM268568 ACTA1 c.92C>T p.A31V Substitution - Missense Large_intestine COSM211630 TET2 c.5381C>G p.A1794G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5883402 SP110 c.869G>A p.R290K Substitution - Missense Large_intestine COSM3436300 TRDMT1 c.508C>T p.Q170* Substitution - Nonsense Skin COSM4877924 TRRAP c.10967T>G p.V3656G Substitution - Missense Prostate COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM30629 SMARCA4 c.4698_4699GG>TT p.K1566_E1567>N* Complex - compound substitution Lung COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM4474541 RERE c.1928C>T p.P643L Substitution - Missense Skin COSM415936 ATF7IP c.2309G>T p.G770V Substitution - Missense Urinary_tract COSM437697 KDM6B c.753_761delACCACCACC p.P262_P264delPPP Deletion - In frame Upper_aerodigestive_tract COSM935970 HNF1A c.341G>A p.R114H Substitution - Missense Large_intestine COSM4965933 CHD2 c.4470C>G p.D1490E Substitution - Missense Pancreas COSM3203677 MECOM c.922C>T p.P308S Substitution - Missense Skin COSM1322675 SETD8 c.428C>T p.S143L Substitution - Missense Ovary COSM291549 DIDO1 c.2938G>A p.A980T Substitution - Missense Large_intestine COSM4383892 TET2 c.3169G>T p.E1057* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4156644 FMR1 c.698C>A p.A233D Substitution - Missense Thyroid COSM3840736 ASXL1 c.3557C>T p.T1186I Substitution - Missense Breast COSM4795960 TAF1L c.5098C>T p.P1700S Substitution - Missense Liver COSM2813578 SMARCA4 c.1940C>T p.P647L Substitution - Missense Biliary_tract COSM2007102 KMT2D c.5998G>A p.E2000K Substitution - Missense Large_intestine COSM4333216 LBR c.1149C>T p.L383L Substitution - coding silent Biliary_tract COSM954420 CHD8 c.6597C>T p.D2199D Substitution - coding silent Endometrium COSM452728 KMT2C c.2379G>A p.S793S Substitution - coding silent Breast COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Central_nervous_system COSM1738286 HDAC9 c.1757G>A p.R586H Substitution - Missense Ovary COSM4574269 PRMT3 c.117A>G p.A39A Substitution - coding silent Bone COSM1318632 TET2 c.822delC p.N275fs*18 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1679532 KDM6B c.643T>G p.S215A Substitution - Missense Large_intestine COSM969936 SRCAP c.5683C>T p.R1895W Substitution - Missense Endometrium COSM5715135 BAZ2A c.634T>C p.F212L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1416614 TCF20 c.5826delC p.L1943fs*>18 Deletion - Frameshift Prostate COSM4581745 NCOA6 c.2643G>A p.T881T Substitution - coding silent Liver COSM1211726 KDM3B c.2860C>T p.R954C Substitution - Missense Skin COSM4788959 CHD1 c.4563G>A p.V1521V Substitution - coding silent Liver COSM5599342 CREBBP c.7047C>T p.V2349V Substitution - coding silent Skin COSM211751 TET2 c.5711A>G p.H1904R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1095754 ATAD2 c.2459T>G p.F820C Substitution - Missense Endometrium COSM4780033 LMNB2 c.1504A>T p.I502F Substitution - Missense Liver COSM1660293 SETD2 c.3485A>T p.D1162V Substitution - Missense Kidney COSM4186798 KDM5C c.1614delC p.S539fs*10 Deletion - Frameshift Kidney COSM3813028 APOBEC1 c.399C>A p.D133E Substitution - Missense Breast COSM5751477 EZH2 c.77T>C p.L26P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM336045 TP53BP1 c.4927A>G p.S1643G Substitution - Missense Lung COSM937182 EP400 c.7085C>T p.T2362I Substitution - Missense Endometrium COSM41910 TET2 c.1154C>G p.S385* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3435843 PWWP2B c.1298C>T p.S433L Substitution - Missense Skin COSM221582 DNMT3A c.2678G>C p.W893S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3710951 MBD6 c.2946C>G p.V982V Substitution - coding silent Upper_aerodigestive_tract COSM133736 DNMT3A c.1792C>T p.R598* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5751618 KDM6A c.706A>C p.N236H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4974439 TRIM24 c.2968G>A p.G990S Substitution - Missense Oesophagus COSM1569565 PRDM14 c.54G>A p.P18P Substitution - coding silent Large_intestine COSM5928270 EPC2 c.154-4C>T p.? Unknown Skin COSM1088613 STK31 c.91G>A p.D31N Substitution - Missense Endometrium COSM2965365 KDM6A c.1980C>A p.L660L Substitution - coding silent Upper_aerodigestive_tract COSM4972245 MEN1 c.1759delA p.M587fs*1 Deletion - Frameshift Thyroid COSM3301698 CLOCK c.474C>T p.I158I Substitution - coding silent Large_intestine COSM2687960 NIPBL c.5021A>G p.K1674R Substitution - Missense Large_intestine COSM1756397 PHF6 c.956G>T p.R319L Substitution - Missense Urinary_tract COSM724746 ZGPAT c.2T>A p.M1K Substitution - Missense Lung COSM1614214 IDH1 c.766G>T p.A256S Substitution - Missense Liver COSM313154 NCOA1 c.1758A>G p.K586K Substitution - coding silent Soft_tissue COSM4383853 TET2 c.2479G>A p.A827T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM211037 SRCAP c.892G>A p.D298N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM914365 ASXL1 c.? p.P874fs*6 Frameshift Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5606600 GTF3C1 c.1566T>G p.V522V Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4685916 FXR1 c.1233G>A p.T411T Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2078412 PRDM16 c.1926C>T p.S642S Substitution - coding silent Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1093596 TRRAP c.2983G>A p.E995K Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1469221 TAF1 c.3088C>T p.R1030C Substitution - Missense Large_intestine COSM53280 TET2 c.?ins? p.fs*? Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4138860 PRDM12 c.810C>A p.P270P Substitution - coding silent Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM110758 TET2 c.1894C>T p.Q632* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4096138 KDM3A c.3309T>G p.A1103A Substitution - coding silent Stomach COSM348682 KMT2D c.4225G>A p.E1409K Substitution - Missense Lung COSM935976 HNF1A c.1594G>A p.A532T Substitution - Missense Endometrium COSM1045457 SETD2 c.3460C>T p.P1154S Substitution - Missense Endometrium COSM3883778 TRRAP c.10954T>G p.F3652V Substitution - Missense Stomach COSM4766709 EZH1 c.1391C>T p.T464M Substitution - Missense Stomach COSM3947827 CHD1 c.2965-7A>C p.? Unknown Lung COSM1471469 ASXL1 c.4237T>G p.L1413V Substitution - Missense Prostate COSM3615219 PRDM9 c.1643G>A p.G548E Substitution - Missense Skin COSM4671989 CHD4 c.5334G>T p.K1778N Substitution - Missense Large_intestine COSM4423063 ATRX c.5401A>G p.K1801E Substitution - Missense Central_nervous_system COSM4702416 KMT2D c.13113C>T p.G4371G Substitution - coding silent Large_intestine COSM724829 DIDO1 c.2713G>A p.E905K Substitution - Missense Lung COSM4384612 KMT2A c.8221C>G p.P2741A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM216817 CHD7 c.3048T>A p.H1016Q Substitution - Missense Pancreas COSM99740 DNMT3A c.2645G>C p.R882P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3156892 HDAC2 c.479C>T p.A160V Substitution - Missense Skin COSM5421649 TBL1XR1 c.560+1delG p.? Unknown Prostate COSM1602142 ARID1A c.2530C>T p.Q844* Substitution - Nonsense Liver COSM1078023 DAXX c.603G>T p.E201D Substitution - Missense Endometrium COSM3626161 BRPF3 c.1110C>T p.L370L Substitution - coding silent Skin COSM132968 ASXL1 c.? p.E635fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM1733711 HDAC9 c.2192C>T p.S731L Substitution - Missense Pancreas COSM6006530 SCMH1 c.1687G>A p.D563N Substitution - Missense Prostate COSM2030139 CHD8 c.2003T>C p.F668S Substitution - Missense Large_intestine COSM5945052 TET2 c.3955-1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1041046 PHC3 c.68C>T p.T23I Substitution - Missense Endometrium COSM3464371 CHD4 c.3288C>T p.I1096I Substitution - coding silent Skin COSM3473671 POGZ c.4014A>T p.S1338S Substitution - coding silent Skin COSM5752306 NCOR1 c.1576_1577delGA p.E526fs*9 Deletion - Frameshift Breast COSM1100879 CHD7 c.7253G>A p.R2418Q Substitution - Missense Endometrium COSM3523310 CHD3 c.5236T>G p.Y1746D Substitution - Missense Skin COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM30318 KDM3B c.2255T>G p.V752G Substitution - Missense Kidney COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85092 KMT2C c.12929C>T p.P4310L Substitution - Missense Pancreas COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM83884 ARID1A c.3826C>T p.R1276* Substitution - Nonsense Pancreas COSM52980 EZH2 c.2069G>A p.R690H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM51014 TDRD6 c.3789T>G p.A1263A Substitution - coding silent Breast COSM96037 MSH6 c.3168G>A p.V1056V Substitution - coding silent Breast COSM96531 IDH1 c.209G>A p.G70D Substitution - Missense Thyroid COSM110349 ASH1L c.4114C>T p.P1372S Substitution - Missense Skin COSM110730 BAP1 c.6_7insT p.K3fs*1 Insertion - Frameshift Eye COSM96377 BAP1 c.2054A>T p.E685V Substitution - Missense Pleura COSM112121 PRDM2 c.2104_2105insCTC p.P703_A704insP Insertion - In frame Upper_aerodigestive_tract COSM126339 SMYD5 c.124A>T p.I42F Substitution - Missense Upper_aerodigestive_tract COSM118587 JMJD1C c.300C>T p.S100S Substitution - coding silent Ovary COSM133030 ARID1A c.3999_4001delGCA p.Q1334del Deletion - In frame Stomach COSM144173 EZH2 c.387T>A p.H129Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144186 ASXL1 c.2011_2012insGGTGAGG p.A671fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM159327 BAP1 c.838C>T p.Q280* Substitution - Nonsense Pleura COSM211727 TET2 c.4019T>G p.L1340R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM211697 TET2 c.2870T>A p.L957* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM215751 SMARCA4 c.3403C>T p.R1135W Substitution - Missense Large_intestine COSM244871 HDAC7 c.389T>G p.L130R Substitution - Missense Prostate COSM276083 MLL5 c.2621G>A p.R874Q Substitution - Missense Large_intestine COSM279000 ASH1L c.1777G>A p.E593K Substitution - Missense Breast COSM292465 SMC1A c.1300C>T p.R434W Substitution - Missense Large_intestine COSM293686 SP140_ENST00000392045 c.2008delA p.K672fs*4 Deletion - Frameshift Large_intestine COSM306877 KDM6A c.2712_2717TAAAAA>TAAAAAA p.G904fs Complex Central_nervous_system COSM345953 HDAC9 c.3120G>T p.L1040L Substitution - coding silent Lung COSM373508 BRDT c.2467G>A p.D823N Substitution - Missense Lung COSM403876 TAF1L c.3113A>C p.K1038T Substitution - Missense Lung COSM436965 AKAP1 c.852G>A p.A284A Substitution - coding silent Breast COSM436343 SUZ12 c.343_346delCTTA p.Y117fs*24 Deletion - Frameshift Endometrium COSM434564 CHD2 c.1948C>T p.Q650* Substitution - Nonsense Skin COSM468359 KDM5A c.1578T>C p.F526F Substitution - coding silent Kidney COSM474149 SMARCA4 c.3379G>T p.D1127Y Substitution - Missense Kidney COSM480332 PBRM1 c.3143C>G p.P1048R Substitution - Missense Kidney COSM480474 SFMBT1 c.1105G>A p.A369T Substitution - Missense Kidney COSM1600797 POGZ c.1414T>G p.F472V Substitution - Missense Liver COSM915012 TDRD1 c.806C>T p.T269M Substitution - Missense Endometrium COSM757501 ATRX c.3403A>T p.R1135W Substitution - Missense Lung COSM740037 EYA4 c.1324A>G p.N442D Substitution - Missense Lung COSM910653 ORC1 c.1402C>T p.R468C Substitution - Missense Endometrium COSM929014 PHRF1 c.446G>A p.R149Q Substitution - Missense Large_intestine COSM929722 MTA2 c.256C>A p.R86R Substitution - coding silent Endometrium COSM895815 POGZ c.2235-1G>T p.? Unknown Large_intestine COSM896432 GATAD2B c.1241G>A p.R414Q Substitution - Missense Endometrium COSM1077733 EHMT2 c.2876C>T p.T959M Substitution - Missense Endometrium COSM1075258 JARID2 c.2856T>C p.I952I Substitution - coding silent Endometrium COSM1124816 ZMYM3 c.1350T>C p.C450C Substitution - coding silent Endometrium COSM1137194 CLOCK c.1539+1_1539+2GT>TC p.? Unknown Kidney COSM1137662 KMT2C c.12975G>T p.L4325L Substitution - coding silent Kidney COSM1262034 PHF12 c.2437C>A p.R813R Substitution - coding silent Stomach COSM1180098 KMT2C c.1005T>A p.P335P Substitution - coding silent Prostate COSM1226750 SMARCA2 c.4045C>T p.R1349* Substitution - Nonsense Biliary_tract COSM1309020 ZCWPW2 c.566C>G p.S189C Substitution - Missense Urinary_tract COSM1315835 ASXL1 c.2161_2161delC p.L721fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1319251 HDAC3 c.443A>G p.N148S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1428813 ING2 c.819delA p.K275fs*>6 Deletion - Frameshift Large_intestine COSM1449820 HDAC9 c.1073C>T p.T358M Substitution - Missense Large_intestine COSM1453225 TRRAP c.10179G>A p.T3393T Substitution - coding silent Stomach COSM1359515 SETD1B c.1273delC p.Q427fs*11 Deletion - Frameshift Large_intestine COSM1353907 PHF21A c.599delA p.N200fs*68 Deletion - Frameshift Large_intestine COSM1531244 HDAC4 c.1548G>A p.R516R Substitution - coding silent Large_intestine COSM1473841 EYA3 c.1551C>G p.S517R Substitution - Missense Breast COSM1614217 IDH1 c.382A>G p.I128V Substitution - Missense Liver COSM1622308 SND1 c.65G>T p.G22V Substitution - Missense Liver COSM1638428 PCGF6 c.614-3delT p.? Unknown Stomach COSM1640357 MORF4L1 c.755C>T p.A252V Substitution - Missense Stomach COSM1716568 BAP1 c.581-?_659+?del p.? Unknown Pleura COSM2007000 KMT2D c.7975C>A p.L2659I Substitution - Missense Upper_aerodigestive_tract COSM2080021 ZMYM6 c.1584G>A p.L528L Substitution - coding silent Large_intestine COSM2797848 BPTF c.7024C>T p.R2342C Substitution - Missense Large_intestine COSM2828731 SETD5_ENST00000402198 c.267A>T p.V89V Substitution - coding silent Upper_aerodigestive_tract COSM2866726 TRRAP c.7045G>A p.V2349M Substitution - Missense Large_intestine COSM3048349 SP140_ENST00000392045 c.1796G>A p.G599E Substitution - Missense Skin COSM3053443 SMEK2 c.1116G>T p.M372I Substitution - Missense Large_intestine COSM3142250 CHD1 c.4740T>C p.S1580S Substitution - coding silent Stomach COSM3153235 EP300 c.6963_6964insC p.H2324fs*55 Insertion - Frameshift Large_intestine COSM3296124 MBD5 c.1248C>T p.H416H Substitution - coding silent Stomach COSM3284223 MBD3 c.99C>A p.V33V Substitution - coding silent Large_intestine COSM3370954 CHD3 c.1809G>C p.K603N Substitution - Missense Thyroid COSM3388427 ASXL3 c.2284G>A p.A762T Substitution - Missense Large_intestine COSM3488878 ZMYM1 c.3091C>T p.R1031* Substitution - Nonsense Skin COSM3431464 HDAC9 c.3003G>T p.Q1001H Substitution - Missense Large_intestine COSM3636461 KMT2C c.12433C>T p.R4145C Substitution - Missense Skin COSM3631646 MLL5 c.660T>C p.V220V Substitution - coding silent Skin COSM3608971 KDM3B c.1087A>C p.N363H Substitution - Missense Skin COSM3588188 ZBTB38 c.2058C>T p.L686L Substitution - coding silent Skin COSM3555546 BRD1 c.964C>T p.R322W Substitution - Missense Skin COSM3561783 PHF16 c.1194G>A p.Q398Q Substitution - coding silent Skin COSM3649307 MYST3 c.1101A>T p.K367N Substitution - Missense Skin COSM3699669 KIAA1045 c.388G>A p.D130N Substitution - Missense Large_intestine COSM3696301 SETD5_ENST00000402198 c.213G>A p.P71P Substitution - coding silent Large_intestine COSM3707813 NCOA3 c.385A>G p.N129D Substitution - Missense Liver COSM3720993 BTAF1 c.4585-2A>T p.? Unknown Upper_aerodigestive_tract COSM3710882 SMYD3 c.505G>C p.D169H Substitution - Missense Upper_aerodigestive_tract COSM3708718 ZMYM3 c.724C>T p.R242C Substitution - Missense Small_intestine COSM3724584 MECOM c.614G>T p.R205L Substitution - Missense Lung COSM3747658 HDGFL1 c.565A>G p.T189A Substitution - Missense Liver COSM3808792 PRDM10 c.1219C>T p.R407C Substitution - Missense Breast COSM3821366 ASXL3 c.2262G>A p.R754R Substitution - coding silent Breast COSM3840185 KDM3A c.2898T>C p.F966F Substitution - coding silent Breast COSM3947393 PRDM9 c.1108G>A p.G370S Substitution - Missense Lung COSM3968325 SMARCC2 c.2009G>A p.G670D Substitution - Missense Central_nervous_system COSM4006958 NCOA2 c.1912C>T p.Q638* Substitution - Nonsense Urinary_tract COSM3990675 BAZ2B c.4354G>A p.E1452K Substitution - Missense Kidney COSM4079916 UHRF1 c.250C>A p.L84I Substitution - Missense Stomach COSM4064166 NCOR1 c.1773C>T p.N591N Substitution - coding silent Stomach COSM4149225 JARID2 c.2961G>A p.P987P Substitution - coding silent Ovary COSM4161998 KMT2C c.2726G>A p.R909K Substitution - Missense Upper_aerodigestive_tract COSM4167694 ORC1 c.1999G>A p.V667M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4383540 DNMT3A c.2193_2195delCTT p.F732delF Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM4396436 CHD4 c.4593C>T p.S1531S Substitution - coding silent Skin COSM4494506 TAF1L c.4347C>T p.L1449L Substitution - coding silent Skin COSM4492852 SP100 c.404C>T p.P135L Substitution - Missense Skin COSM4422245 KMT2D c.3280T>C p.F1094L Substitution - Missense Ovary COSM4675729 CXXC1 c.189G>T p.K63N Substitution - Missense Large_intestine COSM4717447 PRDM10 c.2100C>T p.A700A Substitution - coding silent Cervix COSM4736793 TRRAP c.10003_10004insC p.H3337fs*33 Insertion - Frameshift Large_intestine COSM4621852 ERCC6 c.3615G>T p.K1205N Substitution - Missense Large_intestine COSM4766342 ZBTB38 c.1608G>T p.K536N Substitution - Missense Stomach COSM4774711 TDRD7 c.1049T>G p.V350G Substitution - Missense Stomach COSM4791793 TDRD6 c.2041G>A p.A681T Substitution - Missense Liver COSM4887390 AP001011.3_ENST00000320876 c.5164G>T p.V1722F Substitution - Missense Upper_aerodigestive_tract COSM4849142 NSD1 c.2592G>A p.L864L Substitution - coding silent Cervix COSM4949851 SMYD2 c.317T>C p.V106A Substitution - Missense Liver COSM4963287 ATAD2B_ENST00000238789 c.2633C>A p.P878H Substitution - Missense Pancreas COSM4996552 NIPBL c.728C>T p.S243L Substitution - Missense Upper_aerodigestive_tract COSM4984989 HNF1A c.1460G>A p.S487N Substitution - Missense Liver COSM5004465 KMT2D c.506_507delCA p.Q170fs*49 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4975398 WHSC1 c.843C>T p.L281L Substitution - coding silent Oesophagus COSM4973472 SMARCD1 c.1390C>T p.R464* Substitution - Nonsense Oesophagus COSM4989126 KDM6B c.2281A>G p.T761A Substitution - Missense Soft_tissue COSM5018650 KIAA2026_ENST00000399933 c.3674C>T p.A1225V Substitution - Missense Soft_tissue COSM5019942 SETBP1 c.4000+10T>A p.? Unknown Soft_tissue COSM5021552 KMT2C c.2532+6G>T p.? Unknown Bone COSM5060968 NSD1 c.6596G>A p.R2199H Substitution - Missense Stomach COSM5095167 CHD4 c.2713T>G p.L905V Substitution - Missense Thymus COSM5348620 ARID2 c.4609_4610insA p.R1537fs*7 Insertion - Frameshift Liver COSM5508998 BRPF1 c.2406G>C p.V802V Substitution - coding silent Biliary_tract COSM5447076 ZMYM4 c.933G>T p.Q311H Substitution - Missense Large_intestine COSM5437721 ATAD2 c.3422C>G p.P1141R Substitution - Missense Oesophagus COSM5632897 PRMT1 c.701_702insT p.T235fs*21 Insertion - Frameshift Oesophagus COSM5611229 ARID2 c.294_295AA>TT p.E98_K99>D* Complex - compound substitution Skin COSM5701038 ARID1A c.3978_3979insGCA p.P1326_Q1327insA Insertion - In frame Soft_tissue COSM5792142 IDH1 c.852G>A p.G284G Substitution - coding silent Breast COSM5829846 PRMT10 c.847-3_847-2insT p.? Unknown Large_intestine COSM5799658 SMYD3 c.822C>T p.C274C Substitution - coding silent Breast COSM5803839 BAZ2A_ENST00000379441 c.2081A>G p.K694R Substitution - Missense Liver COSM5916622 RAI1 c.4057C>T p.P1353S Substitution - Missense Skin COSM6004704 PRMT2 c.411G>A p.T137T Substitution - coding silent Prostate COSM6012159 NSD1 c.438C>T p.I146I Substitution - coding silent Skin COSM6002973 RAI1 c.5448C>T p.G1816G Substitution - coding silent Prostate COSM41901 TET2 c.? p.R1216* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM1738137 TET2 c.? p.Q317* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Bone COSM43507 TET2 c.? p.Y1255* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM13445 SMARCB1 c.629_795del167 p.E210fs*15 Deletion - Frameshift Soft_tissue COSM752837 PHF19 c.615-1G>A p.? Unknown Lung COSM87889 ARID1A c.1015delG p.A339fs*24 Deletion - Frameshift Liver COSM1180740 BTAF1 c.3431delT p.L1146fs*27 Deletion - Frameshift Large_intestine COSM5122851 BAZ2A_ENST00000379441 c.2469G>A p.P823P Substitution - coding silent Large_intestine COSM253680 BRPF3 c.1555C>G p.L519V Substitution - Missense Urinary_tract COSM753352 KIAA2026_ENST00000399933 c.5627T>C p.I1876T Substitution - Missense Lung COSM4085883 BAZ2B c.4740T>G p.T1580T Substitution - coding silent Stomach COSM459047 INOC1 c.4221C>T p.V1407V Substitution - coding silent Cervix COSM1114765 SMARCA1 c.2996G>T p.R999I Substitution - Missense Endometrium COSM742763 TDRD6 c.5658C>T p.G1886G Substitution - coding silent Liver COSM41644 TET2 c.1648C>T p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4167265 TET2 c.? p.Q1274W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM379940 ZGPAT c.248G>A p.R83Q Substitution - Missense Lung COSM348474 PHRF1 c.261G>T p.A87A Substitution - coding silent Lung COSM4958552 DIDO1 c.1478G>A p.G493E Substitution - Missense Liver COSM4598419 ASXL1 c.106C>G p.Q36E Substitution - Missense Upper_aerodigestive_tract COSM1377845 CREBBP c.3505C>T p.R1169C Substitution - Missense Breast COSM5082163 SP140_ENST00000392045 c.772G>T p.A258S Substitution - Missense Large_intestine COSM2080190 ZMYM4 c.189A>C p.E63D Substitution - Missense Large_intestine COSM4524368 SUZ12 c.1268G>A p.R423Q Substitution - Missense Large_intestine COSM2909200 ATAD2B_ENST00000238789 c.2388G>A p.V796V Substitution - coding silent Large_intestine COSM4432414 KIAA2026_ENST00000399933 c.5573A>G p.N1858S Substitution - Missense Oesophagus COSM3733523 NCOR1 c.14G>T p.G5V Substitution - Missense Upper_aerodigestive_tract COSM5546650 PHF6 c.839_840ins13 p.C280fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM211729 TET2 c.4064C>T p.A1355V Substitution - Missense Soft_tissue COSM1488819 TRRAP c.3485T>C p.V1162A Substitution - Missense Breast COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM5024986 CTCF c.803G>A p.C268Y Substitution - Missense Breast COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM3501008 INOC1 c.2053C>T p.Q685* Substitution - Nonsense Skin COSM4015209 SIRT1 c.1752T>G p.T584T Substitution - coding silent Stomach COSM4411178 DOT1L c.3751A>C p.I1251L Substitution - Missense Kidney COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM1671596 NIPBL c.8212C>T p.Q2738* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3370869 BPTF c.3817A>G p.M1273V Substitution - Missense Thyroid COSM5008080 TRRAP c.4488C>T p.C1496C Substitution - coding silent Large_intestine COSM174328 GABRG1 c.1130C>A p.S377* Substitution - Nonsense Lung COSM135828 DPF1 c.168G>A p.M56I Substitution - Missense Skin COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5424838 EP300 c.3501+2T>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM727027 EP300 c.4893C>T p.L1631L Substitution - coding silent Lung COSM3619181 PRDM1 c.846C>T p.I282I Substitution - coding silent Skin COSM4440022 KDM3B c.3946delC p.P1317fs*10 Deletion - Frameshift Large_intestine COSM364123 TAF1L c.148C>T p.Q50* Substitution - Nonsense Lung COSM4587277 KMT2C c.1017G>C p.K339N Substitution - Missense Pancreas COSM3693629 DIDO1 c.6184G>A p.D2062N Substitution - Missense Large_intestine COSM118242 ZGPAT c.75C>A p.G25G Substitution - coding silent Ovary COSM5879046 TET2 c.5260delG p.G1754fs*9 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41292 IDH1 c.? p.R132G Substitution - Missense Bone COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41292 IDH1 c.? p.R132G Substitution - Missense Pancreas COSM4665040 BAG6 c.459G>A p.M153I Substitution - Missense Large_intestine COSM3656864 TAF1L c.1780C>T p.P594S Substitution - Missense Skin COSM703034 CREBBP c.4348T>G p.Y1450D Substitution - Missense Lung COSM4635490 SMARCD3 c.1113G>T p.E371D Substitution - Missense Large_intestine COSM3742794 BRD4 c.1351G>A p.E451K Substitution - Missense Large_intestine COSM930218 MEN1 c.610G>A p.E204K Substitution - Missense Endometrium COSM3656872 TAF1L c.846G>A p.R282R Substitution - coding silent Skin COSM468038 EP400 c.8229G>A p.Q2743Q Substitution - coding silent Prostate COSM1302572 PHF12 c.2424G>A p.V808V Substitution - coding silent Urinary_tract COSM907723 ARID1A c.4003C>T p.R1335* Substitution - Nonsense Endometrium COSM4495121 HDAC7 c.329C>T p.P110L Substitution - Missense Skin COSM1491016 HDAC6 c.1806T>A p.A602A Substitution - coding silent Breast COSM5384752 SRCAP c.5276C>T p.P1759L Substitution - Missense Skin COSM5452326 EP300 c.2111C>T p.P704L Substitution - Missense Large_intestine COSM1300699 ARID4A c.2437G>T p.G813C Substitution - Missense Urinary_tract COSM161740 INOC1 c.2182G>A p.D728N Substitution - Missense Breast COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4572840 SHPRH c.882T>G p.D294E Substitution - Missense Skin COSM251354 ARID1A c.6545_6564del20 p.A2182fs*36 Deletion - Frameshift Liver COSM4596479 BAHCC1 c.5240A>C p.N1747T Substitution - Missense Upper_aerodigestive_tract COSM162402 MBD4 c.240A>G p.T80T Substitution - coding silent Breast COSM1741828 KDM6A c.619+3delA p.? Unknown Urinary_tract COSM2210733 ASH1L c.2602T>C p.L868L Substitution - coding silent Large_intestine COSM3795310 RAI1 c.8C>G p.S3C Substitution - Missense Urinary_tract COSM5772519 CBX4 c.323A>C p.D108A Substitution - Missense Breast COSM1327996 INTS12 c.425A>T p.D142V Substitution - Missense Ovary COSM4993089 MYST3 c.1840C>T p.L614F Substitution - Missense Skin COSM266307 CREBBP c.6215G>A p.R2072Q Substitution - Missense Large_intestine COSM3724475 ARID1A c.1650_1650delC p.Y551fs*68 Deletion - Frameshift Stomach COSM422069 PRDM14 c.598G>C p.E200Q Substitution - Missense Urinary_tract COSM4631917 HDAC6 c.2774C>A p.S925Y Substitution - Missense Large_intestine COSM3634197 JHDM1D c.1628C>T p.P543L Substitution - Missense Skin COSM314408 PRDM16 c.1198C>T p.H400Y Substitution - Missense Soft_tissue COSM3788101 PRDM4 c.301G>A p.E101K Substitution - Missense Pancreas COSM4674640 CREBBP c.6972G>T p.Q2324H Substitution - Missense Large_intestine COSM994272 LMNB2 c.1690C>T p.R564C Substitution - Missense Endometrium COSM458078 ATRX c.2686G>C p.D896H Substitution - Missense Breast COSM1634601 ARID1B c.2191A>G p.M731V Substitution - Missense Liver COSM1049742 TET2 c.375C>T p.F125F Substitution - coding silent Endometrium COSM3608876 BRD8 c.3279G>A p.L1093L Substitution - coding silent Skin COSM466565 PRDM10 c.1050G>C p.E350D Substitution - Missense Kidney COSM1411135 DNMT3B c.2115C>T p.G705G Substitution - coding silent Large_intestine COSM4394068 KDM5A c.1774-1G>A p.? Unknown Skin COSM1329657 TDRD6 c.2523A>G p.I841M Substitution - Missense Ovary COSM3142346 PRDM13 c.112T>C p.S38P Substitution - Missense Large_intestine COSM3447092 RAG2 c.877G>A p.E293K Substitution - Missense Skin COSM4805071 TCF20 c.4348C>A p.H1450N Substitution - Missense Liver COSM4646606 SIRT6 c.712A>G p.I238V Substitution - Missense Large_intestine COSM4384688 KMT2D c.15358C>T p.R5120W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5723872 STK31 c.948G>A p.E316E Substitution - coding silent Skin COSM1675366 KAT6B c.4470G>T p.K1490N Substitution - Missense Large_intestine COSM2080142 ZMYM1 c.2951C>T p.S984L Substitution - Missense Pancreas COSM4732913 TDRD6 c.1473G>A p.A491A Substitution - coding silent Large_intestine COSM1293418 PHRF1 c.3826G>T p.D1276Y Substitution - Missense Cervix COSM3471582 TRIM33 c.768C>T p.I256I Substitution - coding silent Skin COSM4774368 SMEK2 c.547G>A p.E183K Substitution - Missense Stomach COSM3986038 PRDM10 c.375C>T p.T125T Substitution - coding silent Kidney COSM1326696 NCOA3 c.3389_3413del25 p.Q1131fs*1 Deletion - Frameshift Ovary COSM5054146 SMEK1 c.268T>C p.C90R Substitution - Missense Stomach COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM983872 PHF23 c.780_782delAGA p.E261delE Deletion - In frame Endometrium COSM4596891 RAI1 c.3387G>T p.K1129N Substitution - Missense Upper_aerodigestive_tract COSM4007993 SCMH1 c.1072G>A p.A358T Substitution - Missense Stomach COSM4408783 EHMT2 c.768C>T p.P256P Substitution - coding silent Oesophagus COSM4674638 CREBBP c.7150delC p.H2384fs*12 Deletion - Frameshift Large_intestine COSM85821 ATRX c.6338_6341delTTAT p.F2113fs*9 Deletion - Frameshift Soft_tissue COSM999381 PRMT1 c.1040G>A p.R347H Substitution - Missense Endometrium COSM2834850 CHD9 c.1917A>C p.Q639H Substitution - Missense Large_intestine COSM5821282 PYGO1 c.1065T>A p.D355E Substitution - Missense Liver COSM724745 ZGPAT c.19G>A p.E7K Substitution - Missense Lung COSM1670851 WHSC1 c.1798C>T p.R600* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM6005790 EP300 c.3135G>C p.K1045N Substitution - Missense Skin COSM72169 PHF8 c.1231G>A p.E411K Substitution - Missense Ovary COSM3620903 SIRT5 c.471C>T p.I157I Substitution - coding silent Skin COSM4170755 CREBBP c.4450T>G p.F1484V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4713914 PHF10 c.472G>T p.E158* Substitution - Nonsense Large_intestine COSM734526 PRDM8 c.1851C>T p.T617T Substitution - coding silent Lung COSM4992829 TRIM24 c.1594C>T p.P532S Substitution - Missense Skin COSM1756790 MBD6 c.1277C>G p.S426C Substitution - Missense Urinary_tract COSM1040967 MECOM c.1587G>A p.S529S Substitution - coding silent Endometrium COSM5572693 TDRKH c.1473C>T p.Y491Y Substitution - coding silent Prostate COSM4997176 RAI1 c.1141G>T p.A381S Substitution - Missense Upper_aerodigestive_tract COSM1299878 APOBEC1 c.193A>G p.N65D Substitution - Missense Urinary_tract COSM693971 KDM5A c.1658A>G p.Y553C Substitution - Missense Lung COSM1372768 RTF1 c.300G>T p.K100N Substitution - Missense Large_intestine COSM1360186 EP400 c.8178A>G p.Q2726Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM467518 TRIM66 c.1404A>C p.P468P Substitution - coding silent Kidney COSM4384300 EZH2 c.374A>T p.E125V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM220498 CREBBP c.4463C>G p.P1488R Substitution - Missense Cervix COSM3948006 L3MBTL3 c.2199+2T>A p.? Unknown Lung COSM4689200 GTF3C4 c.523G>A p.D175N Substitution - Missense Cervix COSM4621018 CREBBP c.6292G>T p.A2098S Substitution - Missense Large_intestine COSM2911411 NCOA1 c.2069T>G p.L690R Substitution - Missense Large_intestine COSM944182 AICDA c.270T>C p.C90C Substitution - coding silent Endometrium COSM328564 NIPBL c.423T>A p.N141K Substitution - Missense Kidney COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4003461 NSD1 c.6829T>C p.L2277L Substitution - coding silent Soft_tissue COSM4607678 AP001011.3_ENST00000320876 c.5730G>T p.Q1910H Substitution - Missense Adrenal_gland COSM2803188 CHD3 c.4471C>T p.R1491C Substitution - Missense Large_intestine COSM430105 KDM4D c.370A>T p.K124* Substitution - Nonsense Breast COSM3700281 ARID2 c.5435C>G p.A1812G Substitution - Missense Liver COSM1642887 SHPRH c.277delT p.S93fs*5 Deletion - Frameshift Large_intestine COSM1197054 CHD2 c.1823G>A p.S608N Substitution - Missense Lung COSM144567 PHF6 c.820C>T p.R274* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM969265 GTF3C1 c.1248C>A p.F416L Substitution - Missense Endometrium COSM4603716 KMT2D c.9298delC p.Q3100fs*22 Deletion - Frameshift Upper_aerodigestive_tract COSM1359417 HNF1A c.865delC p.P291fs*51 Deletion - Frameshift Large_intestine COSM5059997 BRPF1 c.63C>T p.Y21Y Substitution - coding silent Stomach COSM5935400 EYA1 c.856C>T p.P286S Substitution - Missense Skin COSM3624830 EHMT2 c.2684C>T p.S895F Substitution - Missense Skin COSM5361746 ATF7IP c.1371C>T p.L457L Substitution - coding silent Large_intestine COSM5439019 EYA1 c.1051-8T>C p.? Unknown Oesophagus COSM5446274 SETD8 c.542_543delTT p.L181fs*20 Deletion - Frameshift Thyroid COSM1319282 KDM3B c.2813G>A p.R938H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM297240 MBD5 c.2982G>A p.A994A Substitution - coding silent Large_intestine COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5752603 ATRX c.7108C>T p.Q2370* Substitution - Nonsense Breast COSM1612159 DPF1 c.977C>T p.A326V Substitution - Missense Liver COSM3916917 INTS12 c.146C>T p.P49L Substitution - Missense Skin COSM438690 MUM1 c.1587C>G p.V529V Substitution - coding silent Large_intestine COSM41733 TET2 c.3500G>C p.R1167T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3390512 HCFC1 c.1607T>C p.I536T Substitution - Missense Pancreas COSM51491 ARID1A c.3851_3852insA p.Y1285fs*2 Insertion - Frameshift Ovary COSM1757208 TRRAP c.6348G>T p.L2116F Substitution - Missense Urinary_tract COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM956541 ARID4A c.3083A>C p.E1028A Substitution - Missense Endometrium COSM6012803 ACTL6B c.251C>T p.P84L Substitution - Missense Skin COSM3793335 SETDB2 c.686A>T p.Q229L Substitution - Missense Urinary_tract COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1644572 EP300 c.4286+1G>T p.? Unknown Salivary_gland COSM485095 KMT2C c.3309T>A p.C1103* Substitution - Nonsense Kidney COSM77987 L3MBTL1 c.1921G>A p.V641M Substitution - Missense Ovary COSM5886340 GABRG1 c.699G>A p.W233* Substitution - Nonsense Skin COSM4160317 ARID1B c.4386C>T p.G1462G Substitution - coding silent Thyroid COSM4515688 BAHD1 c.1255_1256CC>TT p.P419L Substitution - Missense Skin COSM4170104 TET2 c.5619_5622delTGAG p.E1874fs*12 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1756965 SETBP1 c.1795G>C p.E599Q Substitution - Missense Urinary_tract COSM416656 ARID4A c.2533G>A p.E845K Substitution - Missense Urinary_tract COSM4085889 BAZ2B c.1751C>T p.A584V Substitution - Missense Stomach COSM267265 PRMT2 c.287C>T p.T96M Substitution - Missense Large_intestine COSM466403 KMT2A c.8662G>T p.E2888* Substitution - Nonsense Kidney COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5937561 KMT2D c.4186C>T p.P1396S Substitution - Missense Skin COSM4470723 HDAC10 c.167C>G p.S56W Substitution - Missense Skin COSM238022 PRMT2 c.570C>T p.T190T Substitution - coding silent Prostate COSM3403551 MBD1 c.225G>A p.K75K Substitution - coding silent Central_nervous_system COSM4702436 KMT2D c.4626A>G p.S1542S Substitution - coding silent Large_intestine COSM5654567 L3MBTL4 c.504C>A p.A168A Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM13393 MSH6 c.2836G>T p.E946* Substitution - Nonsense Endometrium COSM1308214 EP300 c.6754G>T p.E2252* Substitution - Nonsense Cervix COSM3717860 SMCHD1 c.1431G>T p.K477N Substitution - Missense Liver COSM1675527 PCGF6 c.565C>T p.R189* Substitution - Nonsense Large_intestine COSM3738484 TET2 c.? p.L615fs*24 Frameshift Haematopoietic_and_lymphoid_tissue COSM3665149 FTO c.268C>T p.L90L Substitution - coding silent Oesophagus COSM4774046 EPC2 c.1718C>A p.S573* Substitution - Nonsense Stomach COSM3712477 BAHCC1 c.4742G>T p.R1581L Substitution - Missense Upper_aerodigestive_tract COSM4842373 BPTF c.3505G>A p.D1169N Substitution - Missense Cervix COSM1026111 NCOA6 c.428G>A p.R143Q Substitution - Missense Large_intestine COSM51209 TET2 c.4642C>T p.Q1548* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4852899 CREBBP c.3187G>T p.E1063* Substitution - Nonsense Cervix COSM4591023 KMT2C c.871C>T p.L291F Substitution - Missense Upper_aerodigestive_tract COSM930378 DPF2 c.88C>T p.R30C Substitution - Missense Endometrium COSM3670130 ZMYM1 c.1147C>A p.L383I Substitution - Missense Central_nervous_system COSM455703 PSIP1 c.833_835delAAG p.E278delE Deletion - In frame Large_intestine COSM37029 EZH2 c.1937A>C p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM392336 ASH1L c.8683_8684insA p.T2895fs*5 Insertion - Frameshift Oesophagus COSM3633846 TIF1 c.436A>C p.K146Q Substitution - Missense Skin COSM1125461 ATRX c.3677T>C p.I1226T Substitution - Missense Endometrium COSM1209381 HDAC4 c.1096-1G>T p.? Unknown Large_intestine COSM215595 SETD3 c.374G>A p.R125Q Substitution - Missense Central_nervous_system COSM5547663 KMT2C c.5743delT p.S1915fs*24 Deletion - Frameshift Prostate COSM4426648 PRDM13 c.778G>A p.D260N Substitution - Missense Oesophagus COSM1101400 PRDM14 c.336G>A p.P112P Substitution - coding silent Endometrium COSM72279 PRDM1 c.976C>T p.P326S Substitution - Missense Ovary COSM4423842 PRMT3 c.1072G>T p.V358F Substitution - Missense Prostate COSM1316076 CREBBP c.4303G>A p.D1435N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM170579 ARID1A c.2167C>T p.Q723* Substitution - Nonsense Breast COSM1737873 SMARCA4 c.3277C>T p.R1093* Substitution - Nonsense Ovary COSM5895921 KMT2C c.11842C>T p.Q3948* Substitution - Nonsense Skin COSM4016201 TAF3 c.2011G>A p.A671T Substitution - Missense Stomach COSM5346261 ARID2 c.594A>T p.K198N Substitution - Missense Urinary_tract COSM3830347 BRPF3 c.2022T>A p.I674I Substitution - coding silent Breast COSM88749 CREBBP c.4336C>T p.R1446C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM436622 KAT2A c.2022C>T p.I674I Substitution - coding silent Breast COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM730680 DHX30 c.895G>C p.E299Q Substitution - Missense Lung COSM21482 HNF1A c.803T>G p.F268C Substitution - Missense Liver COSM1109476 KIAA2026_ENST00000399933 c.1720C>T p.R574C Substitution - Missense Endometrium COSM1048026 ATXN7 c.1901C>T p.A634V Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM267971 ASXL1 c.2893C>T p.R965* Substitution - Nonsense Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5743749 SRCAP c.3020G>A p.R1007Q Substitution - Missense Small_intestine COSM1087659 KMT2C c.947C>G p.T316S Substitution - Missense Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1169483 BAP1 c.383G>T p.G128V Substitution - Missense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4972232 FXR1 c.1729G>A p.E577K Substitution - Missense Thyroid COSM353424 PHF10 c.7C>A p.Q3K Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1754406 PRDM1 c.549G>A p.M183I Substitution - Missense Urinary_tract COSM970570 CREBBP c.4311T>G p.I1437M Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3694078 L3MBTL2 c.573G>T p.K191N Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3660230 ZBTB38 c.619G>A p.D207N Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3428023 TET2 c.2347G>T p.E783* Substitution - Nonsense Large_intestine COSM1342127 ZMYM4 c.1282delA p.K430fs*6 Deletion - Frameshift Prostate COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5769483 SMARCD2 c.906C>A p.Y302* Substitution - Nonsense Breast COSM292731 CHD1 c.3960delA p.E1321fs*22 Deletion - Frameshift Large_intestine COSM1716555 ASXL1 c.1954G>A p.G652S Substitution - Missense Liver COSM302985 PRDM9 c.2525G>A p.R842H Substitution - Missense Large_intestine COSM224958 MYST3 c.2390G>A p.G797E Substitution - Missense Skin COSM1646002 SETDB1 c.942C>T p.C314C Substitution - coding silent Lung COSM2810338 ASXL3 c.1517C>T p.S506F Substitution - Missense Breast COSM3384572 CHD4 c.2881G>A p.D961N Substitution - Missense Stomach COSM3294793 EYA2 c.1058A>G p.D353G Substitution - Missense Large_intestine COSM4586097 CHD1 c.396C>T p.S132S Substitution - coding silent Bone COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM914343 ASXL1 c.? p.C594* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM303463 TRRAP c.5473G>A p.A1825T Substitution - Missense Central_nervous_system COSM988398 SETBP1 c.4016A>G p.H1339R Substitution - Missense Endometrium COSM1462653 KIAA2026_ENST00000399933 c.1625delA p.N542fs*11 Deletion - Frameshift Large_intestine COSM1638616 SIRT1 c.1828delA p.N611fs*10 Deletion - Frameshift Stomach COSM4961413 TDRD6 c.699G>A p.K233K Substitution - coding silent Liver COSM1606202 KMT2D c.11405A>G p.D3802G Substitution - Missense Liver COSM2171594 DMAP1 c.409G>C p.V137L Substitution - Missense Large_intestine COSM4943079 KDM3B c.3494G>C p.G1165A Substitution - Missense Liver COSM4098432 CHD6 c.8091A>G p.E2697E Substitution - coding silent Stomach COSM1124875 TAF1 c.1436G>A p.R479H Substitution - Missense Endometrium COSM1074223 SHPRH c.207T>G p.D69E Substitution - Missense Endometrium COSM1167991 ARID2 c.890C>T p.S297F Substitution - Missense Skin COSM219133 DNMT3A c.2245C>T p.R749C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3501010 INOC1 c.1341T>C p.F447F Substitution - coding silent Skin COSM4504361 ASH1L c.6638C>T p.A2213V Substitution - Missense Skin COSM467245 KAT5 c.1153G>T p.V385L Substitution - Missense Kidney COSM4880698 KMT2A c.379C>T p.R127C Substitution - Missense Prostate COSM5515810 MSL3 c.1089G>T p.E363D Substitution - Missense Biliary_tract COSM132968 ASXL1 c.? p.E635fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM164494 SMYD1 c.1074G>A p.S358S Substitution - coding silent Breast COSM4944442 MGA c.8082A>G p.L2694L Substitution - coding silent Liver COSM1424478 PHF7 c.397delT p.F134fs*85 Deletion - Frameshift Large_intestine COSM5010439 TET2 c.? p.Q960* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4590631 GLYR1 c.1377C>G p.H459Q Substitution - Missense Upper_aerodigestive_tract COSM5478565 TDRD3 c.332G>A p.R111Q Substitution - Missense Large_intestine COSM1264945 SCML2 c.1036G>A p.A346T Substitution - Missense Stomach COSM3600778 PRMT10 c.2041T>C p.S681P Substitution - Missense Skin COSM3579814 ATAD2B_ENST00000238789 c.2012C>T p.S671L Substitution - Missense Skin COSM5981138 KDM6B c.835C>T p.P279S Substitution - Missense Upper_aerodigestive_tract COSM21293 TRRAP c.2607C>T p.R869R Substitution - coding silent Large_intestine COSM20589 BRD3 c.1936+1G>A p.? Unknown Stomach COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85979 ATRX c.6701A>G p.D2234G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85919 TET2 c.4126G>A p.D1376N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Pancreas COSM85843 MEN1 c.1_109del109 p.M1fs*82 Deletion - Frameshift Pancreas COSM77329 BAP1 c.679C>T p.R227C Substitution - Missense Ovary COSM75426 KMT2C c.10040A>G p.N3347S Substitution - Missense Ovary COSM97864 ARID1A c.1876G>T p.E626* Substitution - Nonsense Endometrium COSM95830 DNMT3A c.480C>T p.S160S Substitution - coding silent Large_intestine COSM125572 PRDM9 c.2551C>A p.Q851K Substitution - Missense Upper_aerodigestive_tract COSM133732 DNMT3A c.2312G>A p.R771Q Substitution - Missense Endometrium COSM165125 TIF1 c.2505C>G p.F835L Substitution - Missense Breast COSM220529 EZH2 c.2075C>T p.A692V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM233216 PYGO2 c.574C>T p.P192S Substitution - Missense Skin COSM253896 ZMYND8 c.2028G>A p.E676E Substitution - coding silent Urinary_tract COSM287292 GLYR1 c.1140_1141insG p.R381fs*15 Insertion - Frameshift Large_intestine COSM297202 PRDM2 c.4459delA p.V1490fs*74 Deletion - Frameshift Biliary_tract COSM342698 DNMT3L c.1062G>A p.S354S Substitution - coding silent Skin COSM367185 SMARCD2 c.491G>A p.G164E Substitution - Missense Lung COSM419422 PHF20 c.256G>A p.E86K Substitution - Missense Urinary_tract COSM433783 BAHD1 c.319G>A p.E107K Substitution - Missense Breast COSM447088 SETD5_ENST00000402198 c.1079T>A p.V360E Substitution - Missense Breast COSM444474 BRWD1 c.4949C>G p.S1650C Substitution - Missense Breast COSM443638 ASXL1 c.3016G>A p.E1006K Substitution - Missense Breast COSM985407 CBX8 c.209A>G p.K70R Substitution - Missense Endometrium COSM481816 LMNB1 c.1440C>T p.V480V Substitution - coding silent Kidney COSM692519 SETD8 c.712C>T p.R238W Substitution - Missense Lung COSM1023490 KDM3A c.561C>A p.D187E Substitution - Missense Upper_aerodigestive_tract COSM937513 ATF7IP c.3292C>T p.R1098* Substitution - Nonsense Biliary_tract COSM755295 PHF6 c.742G>T p.G248C Substitution - Missense Lung COSM1692835 SFMBT1 c.557A>T p.E186V Substitution - Missense Skin COSM723126 ASXL1 c.1589C>A p.A530E Substitution - Missense Lung COSM912526 RERE c.1511G>T p.G504V Substitution - Missense Endometrium COSM1034256 CBX7 c.622C>G p.P208A Substitution - Missense Endometrium COSM1067080 PRDM9 c.1242G>A p.Q414Q Substitution - coding silent Endometrium COSM970580 CREBBP c.3737G>A p.G1246D Substitution - Missense Endometrium COSM1060885 PHF15 c.91T>G p.S31A Substitution - Missense Endometrium COSM1124897 TAF1 c.3026A>C p.K1009T Substitution - Missense Endometrium COSM1131994 ARID1B c.4643G>A p.R1548H Substitution - Missense Prostate COSM1083673 MLL5 c.1418G>A p.R473H Substitution - Missense Endometrium COSM1084052 PHF14 c.1569_1570delAG p.K527fs*51 Deletion - Frameshift Endometrium COSM1230619 TRRAP c.1847G>A p.R616H Substitution - Missense Large_intestine COSM1233519 ZMYM1 c.3289T>G p.L1097V Substitution - Missense Large_intestine COSM1165525 ORC1 c.1132C>A p.R378S Substitution - Missense Large_intestine COSM1189882 SMARCA4 c.302G>T p.G101V Substitution - Missense Lung COSM1314719 SMARCA2 c.3366C>G p.F1122L Substitution - Missense Urinary_tract COSM1289714 EP400 c.8181_8182insCAG p.Q2748_T2749insQ Insertion - In frame Large_intestine COSM1289714 EP400 c.8181_8182insCAG p.Q2748_T2749insQ Insertion - In frame Skin COSM1429112 WHSC1 c.4021delC p.P1343fs*>23 Deletion - Frameshift Large_intestine COSM1440576 EYA4 c.455T>C p.L152P Substitution - Missense Stomach COSM1341840 RBBP4 c.284C>T p.A95V Substitution - Missense Large_intestine COSM1344943 MTF2 c.1181delA p.G397fs*6 Deletion - Frameshift Large_intestine COSM1336719 TDRD5 c.2209G>A p.D737N Substitution - Missense Skin COSM1343374 ORC1 c.1364C>T p.T455M Substitution - Missense Large_intestine COSM1496039 NSD1 c.4871C>A p.P1624Q Substitution - Missense Kidney COSM1610671 BPTF c.8235C>T p.I2745I Substitution - coding silent Liver COSM1618460 PRMT10 c.2470A>G p.M824V Substitution - Missense Liver COSM1583102 DNMT3A c.2114T>C p.I705T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1639223 ING4 c.295C>T p.R99W Substitution - Missense Kidney COSM1715916 UTY c.3272C>T p.P1091L Substitution - Missense Skin COSM1943947 TDRD3 c.1622delA p.I543fs*2 Deletion - Frameshift Large_intestine COSM1955347 EPC1 c.132A>G p.G44G Substitution - coding silent Upper_aerodigestive_tract COSM1755317 ACTB c.669C>A p.F223L Substitution - Missense Urinary_tract COSM1746978 ARID2 c.1062G>A p.L354L Substitution - coding silent Urinary_tract COSM1738950 PRDM5 c.895G>A p.V299M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2041370 KDM2A c.1887T>C p.N629N Substitution - coding silent Large_intestine COSM2165432 DPF2 c.818G>A p.C273Y Substitution - Missense Kidney COSM2182691 SETDB1 c.1574C>T p.T525I Substitution - Missense Large_intestine COSM2251508 SMEK1 c.318C>T p.S106S Substitution - coding silent Oesophagus COSM2793037 TDRD7 c.2129G>T p.C710F Substitution - Missense Large_intestine COSM2797788 BPTF c.5053C>T p.R1685* Substitution - Nonsense Large_intestine COSM2820627 AIRE c.891C>T p.D297D Substitution - coding silent Prostate COSM2834884 CHD9 c.4287G>T p.K1429N Substitution - Missense Large_intestine COSM3362224 MBTD1 c.177T>C p.N59N Substitution - coding silent Kidney COSM3379704 PHF8 c.631C>T p.R211* Substitution - Nonsense Pancreas COSM3388441 SETBP1 c.3252A>T p.P1084P Substitution - coding silent Pancreas COSM3388441 SETBP1 c.3252A>T p.P1084P Substitution - coding silent Pancreas COSM3380608 SMARCC1 c.2051A>G p.Q684R Substitution - Missense Pancreas COSM3396081 BAZ2A c.4687C>T p.R1563W Substitution - Missense Prostate COSM3505520 CHD2 c.584C>T p.P195L Substitution - Missense Skin COSM3508227 GTF3C1 c.2795A>T p.E932V Substitution - Missense Skin COSM3500903 BAHD1 c.2316C>T p.H772H Substitution - coding silent Skin COSM3423577 DNMT3B c.306+1G>C p.? Unknown Large_intestine COSM3443939 KMT2A c.1150C>T p.Q384* Substitution - Nonsense Skin COSM3461795 SMARCD1 c.1431G>A p.*477* Substitution - coding silent Skin COSM3622297 ARID1B c.5735C>T p.P1912L Substitution - Missense Skin COSM3636978 HDAC9 c.502A>T p.K168* Substitution - Nonsense Skin COSM3631648 MLL5 c.794C>T p.S265L Substitution - Missense Skin COSM3623167 HDGFL1 c.694G>A p.E232K Substitution - Missense Skin COSM3519927 AKAP1 c.548C>T p.P183L Substitution - Missense Skin COSM3523252 CHD3 c.2023G>A p.E675K Substitution - Missense Skin COSM3525853 SETBP1 c.1687C>T p.P563S Substitution - Missense Skin COSM3525863 SETBP1 c.2268G>A p.P756P Substitution - coding silent Skin COSM3691299 CHD9 c.5591T>C p.F1864S Substitution - Missense Large_intestine COSM3724586 MECOM c.2804C>T p.A935V Substitution - Missense Lung COSM3754331 TP53BP1 c.2487T>C p.D829D Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3762397 TRIM24 c.2589A>G p.G863G Substitution - coding silent Soft_tissue COSM3772177 GTF3C1 c.3808G>A p.D1270N Substitution - Missense Pancreas COSM3844241 SCML2 c.1163T>G p.V388G Substitution - Missense Breast COSM3820879 CHD3 c.4233C>A p.G1411G Substitution - coding silent Breast COSM3881869 ACTB c.962C>T p.A321V Substitution - Missense Stomach COSM3958511 MYST2 c.1726A>G p.K576E Substitution - Missense Lung COSM4013649 ZMYND11 c.1516C>T p.L506L Substitution - coding silent Stomach COSM4010193 RERE c.1434G>A p.P478P Substitution - coding silent Stomach COSM4052633 ALKBH1 c.123A>C p.E41D Substitution - Missense Stomach COSM3992198 L3MBTL2 c.1475A>G p.K492R Substitution - Missense Kidney COSM4002303 PHF16 c.246A>C p.V82V Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4108457 SCML2 c.10A>C p.T4P Substitution - Missense Stomach COSM4129608 NCOR1 c.571G>A p.E191K Substitution - Missense Upper_aerodigestive_tract COSM4152401 KAT2B c.1159C>A p.P387T Substitution - Missense Kidney COSM4155468 KDM3B c.4594G>T p.V1532L Substitution - Missense Kidney COSM4162014 KMT2C c.2534G>A p.G845E Substitution - Missense Upper_aerodigestive_tract COSM4161255 TDRD6 c.599T>G p.V200G Substitution - Missense Upper_aerodigestive_tract COSM4171091 EP300 c.787C>G p.Q263E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4602848 BPTF c.8028_8029insCCTCCAGCC p.P2684_P2685insAPP Insertion - In frame Upper_aerodigestive_tract COSM4438694 SRCAP c.7989A>T p.P2663P Substitution - coding silent Oesophagus COSM4440703 TBL1XR1 c.1376G>A p.S459N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4430901 JMJD1C c.5739T>C p.N1913N Substitution - coding silent Oesophagus COSM4587528 BAZ1B c.3956C>T p.A1319V Substitution - Missense Bone COSM4432631 EP300 c.5958G>A p.P1986P Substitution - coding silent Oesophagus COSM4440419 GTF3C1 c.557G>A p.R186Q Substitution - Missense Thyroid COSM4422217 SFMBT1 c.1996A>T p.K666* Substitution - Nonsense Ovary COSM4421388 AKAP1 c.1639G>T p.V547L Substitution - Missense Pleura COSM4663699 ASH1L c.6375C>T p.G2125G Substitution - coding silent Large_intestine COSM4713919 PHF12 c.2018C>T p.P673L Substitution - Missense Large_intestine COSM4774919 WHSC1 c.1410G>A p.E470E Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4918617 LMNA c.357-2A>G p.? Unknown Liver COSM4960087 WHSC1 c.66G>A p.K22K Substitution - coding silent Liver COSM4984989 HNF1A c.1460G>A p.S487N Substitution - Missense Soft_tissue COSM5011116 PBRM1 c.1717C>A p.H573N Substitution - Missense Kidney COSM5009480 KMT2C c.8040G>A p.Q2680Q Substitution - coding silent Soft_tissue COSM5205367 ZMYM2 c.1649_1650delAG p.Q550fs*5 Deletion - Frameshift Breast COSM5386635 MYST2 c.775C>T p.R259* Substitution - Nonsense Skin COSM5400989 WHSC1 c.3314G>A p.R1105K Substitution - Missense Skin COSM5360873 DPF2 c.1067G>A p.C356Y Substitution - Missense Large_intestine COSM5492783 PHF21A c.1032_1035delAACA p.T345fs*28 Deletion - Frameshift Biliary_tract COSM5470502 SRCAP c.9466C>T p.R3156C Substitution - Missense Large_intestine COSM5433242 SMARCA1 c.1384C>T p.H462Y Substitution - Missense Oesophagus COSM5416873 TRRAP c.5198C>T p.A1733V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5643908 LMNA c.703C>T p.R235C Substitution - Missense Oesophagus COSM5612623 ATAD2B_ENST00000238789 c.2545G>A p.A849T Substitution - Missense Adrenal_gland COSM5652129 NIPBL c.6863A>G p.E2288G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5724266 NCOR1 c.55C>T p.R19C Substitution - Missense Skin COSM5741367 KDM4B c.3244G>A p.V1082M Substitution - Missense Small_intestine COSM5596831 HDAC9 c.2564C>T p.P855L Substitution - Missense Skin COSM5608368 EP300 c.2351C>T p.P784L Substitution - Missense Skin COSM5713882 NSD1 c.6157G>A p.E2053K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5662356 SCML2 c.1672G>C p.A558P Substitution - Missense Soft_tissue COSM5564994 SRCAP c.6461G>A p.R2154Q Substitution - Missense Prostate COSM5790330 EHMT1 c.580C>T p.R194* Substitution - Nonsense Breast COSM5878992 TET2 c.2779_2780insT p.P929fs*4 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5807749 ATXN7 c.1785A>T p.A595A Substitution - coding silent Liver COSM5812235 ZMYM1 c.839G>T p.C280F Substitution - Missense Liver COSM5967292 KDM6A c.3657G>A p.W1219* Substitution - Nonsense Salivary_gland COSM5977862 PRDM2 c.2875G>A p.G959S Substitution - Missense Upper_aerodigestive_tract COSM6008924 ARID2 c.847G>A p.G283R Substitution - Missense Large_intestine COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM166349 DNMT3A c.? p.?del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96477 IDH2 c.? p.R140G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM166348 DNMT3A c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM132980 ASXL1 c.? p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM21481 HNF1A c.872_873insC p.G292fs*25 Insertion - Frameshift Liver COSM1385423 BPTF c.2969A>C p.K990T Substitution - Missense Large_intestine COSM3401948 MORF4L1 c.526A>G p.R176G Substitution - Missense Central_nervous_system COSM4168536 PRDM4 c.2296G>C p.E766Q Substitution - Missense Peritoneum COSM161470 HDAC1 c.1192G>A p.E398K Substitution - Missense Breast COSM210975 GTF3C4 c.1841_1842insG p.N616fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM266403 DNMT1 c.1294G>A p.E432K Substitution - Missense Large_intestine COSM258970 TAF1 c.530G>A p.G177D Substitution - Missense Large_intestine COSM162844 NCOR1 c.6332A>T p.H2111L Substitution - Missense Breast COSM22596 MEN1 c.1739C>G p.T580R Substitution - Missense Parathyroid COSM2145530 ERCC6 c.631G>A p.A211T Substitution - Missense Stomach COSM87011 DNMT3A c.2141C>G p.S714C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM429983 EED c.619C>T p.L207L Substitution - coding silent Soft_tissue COSM1978315 RAG2 c.1348G>A p.D450N Substitution - Missense Skin COSM312890 KMT2C c.13822C>T p.R4608C Substitution - Missense Stomach COSM4637688 SMARCC2 c.2903G>T p.G968V Substitution - Missense Large_intestine COSM5609404 KMT2A c.5982C>T p.F1994F Substitution - coding silent Skin COSM6000728 KMT2D c.15640G>A p.E5214K Substitution - Missense Prostate COSM1169610 TET2 c.? p.N844fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM3766019 RAI1 c.5601T>C p.I1867I Substitution - coding silent Thyroid COSM5739561 CHD4 c.2405A>G p.Y802C Substitution - Missense Small_intestine COSM1035229 BRD1 c.2341C>T p.P781S Substitution - Missense Endometrium COSM3291633 CHD6 c.7261C>T p.P2421S Substitution - Missense Skin COSM2874583 NCOA2 c.3200A>G p.H1067R Substitution - Missense Large_intestine COSM3539439 SUV420H2 c.369C>T p.I123I Substitution - coding silent Skin COSM5716522 HDAC10 c.1548G>A p.R516R Substitution - coding silent Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Autonomic_ganglia COSM934226 HCFC2 c.1402T>C p.L468L Substitution - coding silent Endometrium COSM4134763 DIDO1 c.102C>T p.I34I Substitution - coding silent Thyroid COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM21764 CREBBP c.5271C>T p.G1757G Substitution - coding silent Skin COSM1117729 HCFC1 c.3601G>A p.E1201K Substitution - Missense Endometrium COSM5056813 UHRF1 c.1530T>C p.C510C Substitution - coding silent Stomach COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM1603625 JMJD1C c.4178A>C p.K1393T Substitution - Missense Liver COSM420316 ATXN7 c.2672G>A p.R891H Substitution - Missense Large_intestine COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1377864 CREBBP c.356G>T p.G119V Substitution - Missense Large_intestine COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM46439 HNF1A c.711T>A p.N237K Substitution - Missense Liver COSM3690702 GTF3C1 c.2518G>T p.G840C Substitution - Missense Large_intestine COSM276076 KMT2D c.5044T>C p.F1682L Substitution - Missense Large_intestine COSM249778 TET2 c.3808A>G p.T1270A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5455598 BAZ1B c.1017C>T p.H339H Substitution - coding silent Large_intestine COSM457597 HDAC6 c.2518G>C p.E840Q Substitution - Missense Breast COSM321409 LMNB2 c.1744G>T p.D582Y Substitution - Missense Lung COSM1750767 DOT1L c.1599C>T p.L533L Substitution - coding silent Urinary_tract COSM3704169 HDAC7 c.694C>T p.R232W Substitution - Missense Liver COSM4925339 CHD6 c.5522A>T p.D1841V Substitution - Missense Liver COSM1312938 HDAC9 c.1494G>A p.L498L Substitution - coding silent Urinary_tract COSM5985150 DNMT3A c.1958T>G p.L653W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM251380 ARID1A c.3281_3282insA p.Q1095fs*10 Insertion - Frameshift Liver COSM1286282 MSH6 c.2178C>A p.F726L Substitution - Missense Autonomic_ganglia COSM423144 PBRM1 c.3876-18_3876-2del17 p.? Unknown Kidney COSM5726017 SUV39H2 c.488G>A p.G163D Substitution - Missense Skin COSM5346433 ARID2 c.597C>T p.I199I Substitution - coding silent Urinary_tract COSM5907782 TCF20 c.320C>T p.P107L Substitution - Missense Skin COSM1496384 CDYL c.859T>C p.S287P Substitution - Missense Prostate COSM5969870 JMJD1C c.1112A>G p.N371S Substitution - Missense Upper_aerodigestive_tract COSM4590719 KAT2A c.1583C>T p.S528F Substitution - Missense Upper_aerodigestive_tract COSM87012 DNMT3A c.1903C>T p.R635W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4426436 CCDC101 c.740C>A p.A247D Substitution - Missense Oesophagus COSM996179 SIRT2 c.608A>G p.E203G Substitution - Missense Endometrium COSM3615944 NIPBL c.3027T>C p.S1009S Substitution - coding silent Skin COSM707228 ZBTB4 c.2715C>A p.D905E Substitution - Missense Lung COSM254822 KMT2C c.13400A>T p.K4467M Substitution - Missense Urinary_tract COSM4172554 MSH6 c.? p.S1208F Substitution - Missense Skin COSM1125801 BRWD3 c.5037G>A p.W1679* Substitution - Nonsense Endometrium COSM1210671 ING5 c.305C>T p.A102V Substitution - Missense Large_intestine COSM461319 BAZ2B c.5668G>C p.E1890Q Substitution - Missense Cervix COSM195396 PRDM14 c.1514G>A p.R505H Substitution - Missense Endometrium COSM3501105 MGA c.5556C>T p.H1852H Substitution - coding silent Skin COSM1577289 ASXL1 c.? p.?fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM3718056 SMARCA4 c.2521A>C p.R841R Substitution - coding silent Liver COSM2919946 CREBBP c.4991G>A p.R1664H Substitution - Missense Large_intestine COSM1680496 LMNB2 c.671T>C p.V224A Substitution - Missense Large_intestine COSM5380514 ARID1A c.2936C>T p.T979I Substitution - Missense Skin COSM3745561 JHDM1D c.1643T>C p.I548T Substitution - Missense Liver COSM1027515 ZMYND8 c.2860G>A p.E954K Substitution - Missense Endometrium COSM4437278 PRMT8 c.910G>A p.V304I Substitution - Missense Oesophagus COSM4108020 MECP2 c.35A>G p.K12R Substitution - Missense Stomach COSM1255492 KDM4B c.874T>G p.F292V Substitution - Missense Oesophagus COSM396351 PHF2 c.2676G>T p.R892R Substitution - coding silent Lung COSM4104434 EP300 c.3591-1G>T p.? Unknown Large_intestine COSM30381 SETD2 c.1850_1853delTAGC p.I617fs*33 Deletion - Frameshift Kidney COSM4430358 PHRF1 c.3557C>T p.T1186I Substitution - Missense Oesophagus COSM4604731 BAZ1B c.2134G>C p.D712H Substitution - Missense Upper_aerodigestive_tract COSM4104434 EP300 c.3591-1G>T p.? Unknown Stomach COSM5513968 PRMT6 c.77C>T p.T26M Substitution - Missense Biliary_tract COSM3965265 KDM6A c.4005+1G>C p.? Unknown Lung COSM1137984 SMARCA2 c.414G>A p.M138I Substitution - Missense Kidney COSM445985 TBL1XR1 c.854G>T p.G285V Substitution - Missense Breast COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5723506 TDRD5 c.1217G>A p.W406* Substitution - Nonsense Skin COSM2221846 TRIM66 c.1448C>T p.P483L Substitution - Missense Large_intestine COSM5105952 ARID1B c.189_190insCAGCAG p.Q73_H74insQQ Insertion - In frame Large_intestine COSM1377530 SETD1A c.2115delC p.G708fs*95 Deletion - Frameshift Large_intestine COSM2178788 TTF2 c.832delG p.G279fs*100 Deletion - Frameshift Large_intestine COSM2002818 ATF7IP c.438C>T p.S146S Substitution - coding silent Bone COSM4665204 BAZ1A c.3271A>G p.I1091V Substitution - Missense Large_intestine COSM3580209 NCOA1 c.224A>T p.D75V Substitution - Missense Skin COSM5826797 KAT6B c.4077_4078insGAAGAGGAA p.E1368_G1369insEEE Insertion - In frame Large_intestine COSM1308230 TCF20 c.720C>T p.S240S Substitution - coding silent Thyroid COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4146858 EP400 c.9280G>A p.A3094T Substitution - Missense Soft_tissue COSM4060211 SRCAP c.8299C>T p.R2767W Substitution - Missense Stomach COSM1296224 ARID1A c.3598C>T p.Q1200* Substitution - Nonsense Skin COSM1630640 L3MBTL4 c.738A>G p.P246P Substitution - coding silent Liver COSM261647 KIAA2026_ENST00000399933 c.4934C>A p.S1645Y Substitution - Missense Large_intestine COSM3995248 MLL5 c.3257A>T p.D1086V Substitution - Missense Kidney COSM3588187 ZBTB38 c.1832C>T p.S611F Substitution - Missense Skin COSM5564331 TET2 c.3784C>T p.R1262W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4927533 BRWD3 c.1244C>T p.P415L Substitution - Missense Liver COSM5748267 TCF20 c.5179_5180insC p.Q1727fs*14 Insertion - Frameshift Pancreas COSM4486899 TTF2 c.3114C>T p.T1038T Substitution - coding silent Skin COSM5456287 EP400 c.1452T>A p.P484P Substitution - coding silent Large_intestine COSM4702516 KMT2C c.1736-2A>C p.? Unknown Large_intestine COSM1719200 KAT2A c.1617C>T p.I539I Substitution - coding silent Skin COSM4146721 HNF1A c.99G>C p.P33P Substitution - coding silent Thyroid COSM1484833 PHC3 c.952A>G p.I318V Substitution - Missense Breast COSM87253 IKZF1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5977124 BRD3 c.779G>A p.R260Q Substitution - Missense Upper_aerodigestive_tract COSM5600552 SP110 c.733C>T p.P245S Substitution - Missense Skin COSM34192 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM34192 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM5030622 PHC1 c.1540_1551del12 p.K514_A517delKMSA Deletion - In frame Bone COSM907689 ARID1A c.1669C>T p.Q557* Substitution - Nonsense Endometrium COSM3674064 BRPF1 c.1136C>A p.P379Q Substitution - Missense Prostate COSM1372831 MGA c.6448T>G p.L2150V Substitution - Missense Large_intestine COSM4419035 NSD1 c.1749G>A p.E583E Substitution - coding silent Oesophagus COSM4913092 TDRD6 c.4576A>G p.T1526A Substitution - Missense Liver COSM3947624 C5orf35 c.445G>A p.A149T Substitution - Missense Lung COSM277583 TAF1 c.3662G>A p.R1221Q Substitution - Missense Stomach COSM2161463 SFMBT2 c.435C>T p.D145D Substitution - coding silent Large_intestine COSM5919502 CHD7 c.5088G>T p.K1696N Substitution - Missense Skin COSM231549 DNMT3A c.2309C>T p.S770L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5382731 ALKBH1 c.753C>T p.S251S Substitution - coding silent Skin COSM1626405 SETDB1 c.1180C>T p.R394W Substitution - Missense Liver COSM1093593 TRRAP c.2917G>T p.A973S Substitution - Missense Endometrium COSM3390775 TAF1 c.4300G>A p.V1434M Substitution - Missense Pancreas COSM4432391 TDRD6 c.4626G>C p.E1542D Substitution - Missense Oesophagus COSM895803 POGZ c.3997G>A p.D1333N Substitution - Missense Endometrium COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5988913 ZMYM3 c.2575G>T p.E859* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM693670 KMT2D c.3404G>T p.C1135F Substitution - Missense Lung COSM4961601 PRDM5 c.319T>G p.Y107D Substitution - Missense Pancreas COSM3650081 CHD7 c.6368C>T p.S2123F Substitution - Missense Skin COSM88025 SMARCA4 c.2729C>T p.T910M Substitution - Missense Large_intestine COSM5962857 UHRF2 c.353G>A p.R118H Substitution - Missense Breast COSM687404 RAG2 c.1163C>G p.A388G Substitution - Missense Lung COSM2149273 SMARCA2 c.476G>A p.G159D Substitution - Missense Central_nervous_system COSM4101619 BRWD1 c.52C>A p.L18M Substitution - Missense Stomach COSM3858405 EYA4 c.529G>A p.V177I Substitution - Missense Prostate COSM5985013 SMYD5 c.478C>G p.Q160E Substitution - Missense Upper_aerodigestive_tract COSM1753301 BAP1 c.692T>C p.M231T Substitution - Missense Urinary_tract COSM5400257 TET2 c.1256C>T p.P419L Substitution - Missense Skin COSM4613324 KDM5A c.3276delA p.V1093fs*1 Deletion - Frameshift Large_intestine COSM1737028 TDRD7 c.1655G>A p.S552N Substitution - Missense Central_nervous_system COSM586114 PRMT10 c.738C>A p.P246P Substitution - coding silent Central_nervous_system COSM1296342 ZMYM4 c.3304C>T p.P1102S Substitution - Missense Urinary_tract COSM53031 EZH2 c.965A>G p.N322S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM947872 SETDB2 c.833G>A p.R278Q Substitution - Missense Endometrium COSM2175947 KDM2B c.478G>A p.V160M Substitution - Missense Large_intestine COSM979421 KAT2A c.1181-33_1186del39 p.? Unknown Endometrium COSM1606212 KMT2D c.2583G>A p.Q861Q Substitution - coding silent Liver COSM164777 TAF1L c.3754C>T p.R1252W Substitution - Missense Kidney COSM1034579 EP300 c.6892C>T p.Q2298* Substitution - Nonsense Endometrium COSM5958100 KAT6B c.5458C>A p.L1820M Substitution - Missense Thyroid COSM132978 ASXL1 c.? p.R965* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4891235 POGZ c.3854G>A p.R1285Q Substitution - Missense Upper_aerodigestive_tract COSM4807482 KMT2D c.2013-9C>T p.? Unknown Pancreas COSM4695015 KDM5C c.3825C>T p.G1275G Substitution - coding silent Large_intestine COSM1235293 IDH2 c.? p.I168I Substitution - coding silent Central_nervous_system COSM3492898 RERE c.4008C>T p.P1336P Substitution - coding silent Skin COSM3395715 PSIP1 c.286C>T p.Q96* Substitution - Nonsense Pancreas COSM1674366 SMARCA2 c.4733A>G p.E1578G Substitution - Missense Large_intestine COSM284279 PRMT10 c.1204G>T p.E402* Substitution - Nonsense Large_intestine COSM1081865 PHIP c.1889A>C p.Q630P Substitution - Missense Endometrium COSM5789728 KAT6B c.3219G>T p.E1073D Substitution - Missense Breast COSM3226914 SIRT6 c.194+7G>A p.? Unknown Pancreas COSM3929164 BAZ1B c.142C>T p.R48C Substitution - Missense Central_nervous_system COSM3568262 BAZ2B c.3184C>T p.P1062S Substitution - Missense Skin COSM5060648 KDM3B c.2827C>T p.R943W Substitution - Missense Stomach COSM5629461 HDAC9 c.722G>A p.R241K Substitution - Missense Oesophagus COSM143516 RAI1 c.4543_4544CC>TT p.P1515F Substitution - Missense Skin COSM5232263 CXXC1 c.1093G>A p.D365N Substitution - Missense Breast COSM4663236 ARID1B c.745_747delGGC p.G261delG Deletion - In frame Large_intestine COSM3780930 EP400 c.6521G>A p.R2174Q Substitution - Missense Pancreas COSM321080 JHDM1D c.1930C>A p.R644S Substitution - Missense Large_intestine COSM3546353 CHD6 c.7470C>T p.I2490I Substitution - coding silent Skin COSM37029 EZH2 c.1937A>C p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3374567 KMT2C c.10771C>T p.Q3591* Substitution - Nonsense Thyroid COSM4383522 DNMT3A c.2603T>C p.F868S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM360629 BRWD3 c.1975G>T p.D659Y Substitution - Missense Lung COSM4382809 KDM3B c.3988G>A p.A1330T Substitution - Missense Large_intestine COSM5727930 PHC3 c.2125G>A p.E709K Substitution - Missense Skin COSM190399 BRD7 c.1834C>T p.R612* Substitution - Nonsense Large_intestine COSM5480610 ZBTB4 c.2376C>T p.P792P Substitution - coding silent Large_intestine COSM1241439 KMT2C c.12195G>A p.A4065A Substitution - coding silent Oesophagus COSM5347206 ARID1A c.?_?del? p.Y222fs*? Deletion - Frameshift Endometrium COSM716187 BAZ2B c.5157G>A p.W1719* Substitution - Nonsense Lung COSM1377018 GTF3C1 c.5619C>T p.T1873T Substitution - coding silent Large_intestine COSM1180774 KDM5A c.3597delA p.G1200fs*9 Deletion - Frameshift Stomach COSM1299145 EP400 c.8208G>A p.Q2736Q Substitution - coding silent Urinary_tract COSM5790143 BAHCC1 c.1747C>G p.P583A Substitution - Missense Breast COSM5987080 ZMYM4 c.2383G>T p.E795* Substitution - Nonsense Salivary_gland COSM3621296 SHPRH c.2962C>T p.R988C Substitution - Missense Skin COSM433033 BAZ1A c.2848G>C p.D950H Substitution - Missense Breast COSM5600613 TAF1L c.1792G>A p.G598S Substitution - Missense Skin COSM32750 BAZ1B c.2747C>G p.S916* Substitution - Nonsense Breast COSM1078484 BRPF3 c.832G>A p.A278T Substitution - Missense Endometrium COSM5942600 SETD3 c.1154T>A p.L385H Substitution - Missense Skin COSM5648178 RNF17 c.1774G>A p.E592K Substitution - Missense Oesophagus COSM4677497 DIDO1 c.6249C>T p.F2083F Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4775018 TET2 c.5908T>C p.S1970P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5403285 PRDM9 c.2316G>A p.G772G Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4409809 KMT2A c.11894G>A p.R3965Q Substitution - Missense Oesophagus COSM4754341 RAD54L c.1192G>C p.D398H Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM84971 DAXX c.458A>G p.N153S Substitution - Missense Pancreas COSM5796797 PRDM4 c.553G>C p.E185Q Substitution - Missense Breast COSM5923214 KDM6B c.3736C>T p.R1246C Substitution - Missense Skin COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM3763958 KIAA2026_ENST00000399933 c.288C>T p.G96G Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3153134 EP300 c.3240C>T p.D1080D Substitution - coding silent Oesophagus COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM4385603 TET2 c.4311_4312insA p.R1440fs*38 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM292731 CHD1 c.3960delA p.E1321fs*22 Deletion - Frameshift Large_intestine COSM1352564 PRDM10 c.2487C>T p.P829P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4574547 PHRF1 c.3007A>G p.K1003E Substitution - Missense Bone COSM1577239 MEN1 c.446-?_783+?del p.? Unknown Parathyroid COSM1039206 ZBTB38 c.3025C>T p.P1009S Substitution - Missense Endometrium COSM3622198 JARID2 c.3466G>A p.E1156K Substitution - Missense Skin COSM1612596 KDM4B c.537C>G p.F179L Substitution - Missense Liver COSM3645235 PHF20L1 c.136C>T p.H46Y Substitution - Missense Skin COSM5604482 PHF13 c.790C>T p.R264W Substitution - Missense Skin COSM3997706 MTF2 c.1580T>A p.F527Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5149616 BAHCC1 c.4721G>A p.R1574H Substitution - Missense Large_intestine COSM749489 ATAD2 c.3007G>C p.D1003H Substitution - Missense Lung COSM4729932 SRCAP c.2740T>C p.S914P Substitution - Missense Large_intestine COSM1606377 SMARCC2 c.2204T>A p.L735Q Substitution - Missense Liver COSM3925535 PRDM14 c.20G>A p.S7N Substitution - Missense Skin COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM30422 KMT2D c.11324A>G p.Q3775R Substitution - Missense Lung COSM1002 SMARCB1 c.118C>T p.R40* Substitution - Nonsense Soft_tissue COSM1644127 TET2 c.530_530delC p.P177fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM37030 EZH2 c.1936T>C p.Y646H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51387 SMARCB1 c.796_986del191 p.? Unknown Central_nervous_system COSM110507 KDM3B c.723G>A p.S241S Substitution - coding silent Skin COSM116715 KMT2A c.9606C>A p.S3202R Substitution - Missense Ovary COSM143420 PHF17 c.1160_1161GG>AA p.G387E Substitution - Missense Skin COSM133957 TRIM33 c.815G>A p.R272H Substitution - Missense Skin COSM220977 CREBBP c.508C>T p.Q170* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM234448 BRDT c.2523G>A p.R841R Substitution - coding silent Skin COSM247469 AP001011.3_ENST00000320876 c.1580C>T p.T527M Substitution - Missense Prostate COSM252715 PHF1 c.1466C>T p.A489V Substitution - Missense Ovary COSM255005 KDM6A c.2959A>T p.K987* Substitution - Nonsense Urinary_tract COSM251351 ARID1A c.319_328delGCGGGCCCTA p.A107fs*4 Deletion - Frameshift Liver COSM250932 EZH2 c.2024A>G p.N675S Substitution - Missense Liver COSM260971 FMR1 c.1590C>T p.D530D Substitution - coding silent Large_intestine COSM263824 SP140_ENST00000392045 c.2115C>T p.C705C Substitution - coding silent Bone COSM277389 AP001011.3_ENST00000320876 c.4084C>A p.L1362I Substitution - Missense Large_intestine COSM301382 KAT6B c.2790G>A p.A930A Substitution - coding silent Liver COSM300460 BAZ2A_ENST00000379441 c.5413A>G p.I1805V Substitution - Missense Large_intestine COSM296495 LMNB2 c.1569_1570insC p.S524fs*23 Insertion - Frameshift Large_intestine COSM297202 PRDM2 c.4459delA p.V1490fs*74 Deletion - Frameshift Large_intestine COSM342698 DNMT3L c.1062G>A p.S354S Substitution - coding silent Lung COSM364821 SMARCA2 c.3779G>T p.R1260L Substitution - Missense Lung COSM366834 GABRG1 c.461G>C p.R154T Substitution - Missense Lung COSM359476 KDM3A c.16G>T p.G6* Substitution - Nonsense Lung COSM386577 EP400 c.502G>T p.G168W Substitution - Missense Lung COSM436257 PHF12 c.2191C>T p.R731* Substitution - Nonsense Breast COSM458773 BTAF1 c.2743C>G p.P915A Substitution - Missense Cervix COSM451712 PHF3 c.4572A>C p.K1524N Substitution - Missense Breast COSM472372 RAI1 c.4624C>A p.R1542R Substitution - coding silent Kidney COSM680128 EYA3 c.855G>T p.K285N Substitution - Missense Lung COSM1051863 PRMT10 c.253G>T p.D85Y Substitution - Missense Endometrium COSM941095 CBX5 c.555G>T p.E185D Substitution - Missense Endometrium COSM953999 MTA1 c.630C>T p.I210I Substitution - coding silent Large_intestine COSM1026069 NCOA6 c.4469C>T p.S1490L Substitution - Missense Large_intestine COSM937513 ATF7IP c.3292C>T p.R1098* Substitution - Nonsense Large_intestine COSM1021291 MSH6 c.3039G>T p.K1013N Substitution - Missense Large_intestine COSM1025781 DNMT3B c.222C>T p.G74G Substitution - coding silent Endometrium COSM1031245 AIRE c.1399G>A p.G467R Substitution - Missense Endometrium COSM757661 ZMYM3 c.2493G>C p.K831N Substitution - Missense Lung COSM709513 SETBP1 c.3838G>T p.V1280L Substitution - Missense Lung COSM709533 SETBP1 c.384G>T p.E128D Substitution - Missense Lung COSM729196 MECOM c.835G>T p.A279S Substitution - Missense Lung COSM729839 TBL1XR1 c.974G>C p.C325S Substitution - Missense Lung COSM945407 ING1 c.625G>A p.E209K Substitution - Missense Endometrium COSM946195 RNF17 c.784A>G p.I262V Substitution - Missense Endometrium COSM933547 KDM4D c.1048C>T p.P350S Substitution - Missense Endometrium COSM961981 TP53BP1 c.1746T>C p.N582N Substitution - coding silent Endometrium COSM1109526 UHRF2 c.439C>T p.H147Y Substitution - Missense Endometrium COSM1248224 CHD8 c.1633_1634insG p.K545fs*3 Insertion - Frameshift Oesophagus COSM1207675 FXR1 c.1745G>A p.G582D Substitution - Missense Large_intestine COSM1180829 CREBBP c.3250delA p.I1084fs*15 Deletion - Frameshift Stomach COSM1583146 DNMT3A c.2504C>T p.T835M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1262961 PRDM9 c.1474A>C p.R492R Substitution - coding silent Oesophagus COSM1211789 KDM5C c.1133G>T p.R378L Substitution - Missense Large_intestine COSM1220394 PHIP c.1186C>T p.R396* Substitution - Nonsense Large_intestine COSM1225366 SETD3 c.455T>C p.M152T Substitution - Missense Large_intestine COSM1193422 CHD8 c.4010G>A p.R1337Q Substitution - Missense Lung COSM1314755 TAF1L c.3079C>T p.R1027C Substitution - Missense Urinary_tract COSM1307611 DIDO1 c.3776G>T p.G1259V Substitution - Missense Urinary_tract COSM1284065 CDYL c.1714G>T p.E572* Substitution - Nonsense Autonomic_ganglia COSM1333990 POGZ c.3022C>T p.R1008* Substitution - Nonsense Large_intestine COSM1387285 BAHCC1 c.2657delC p.H888fs*86 Deletion - Frameshift Pancreas COSM1420706 TBL1XR1 c.377delA p.N126fs*16 Deletion - Frameshift Large_intestine COSM1437262 NIPBL c.1801delA p.K603fs*11 Deletion - Frameshift Large_intestine COSM1448368 TRIM24 c.1275C>T p.I425I Substitution - coding silent Large_intestine COSM1461691 SMARCA2 c.683A>C p.Q228P Substitution - Missense Upper_aerodigestive_tract COSM1436895 PRDM9 c.2664C>T p.Y888Y Substitution - coding silent Stomach COSM1460308 SET c.695G>A p.G232E Substitution - Missense Large_intestine COSM1494160 CXXC1 c.153T>C p.H51H Substitution - coding silent Kidney COSM1495212 EP300 c.6226G>T p.A2076S Substitution - Missense Kidney COSM1487233 EYA4 c.662G>A p.S221N Substitution - Missense Breast COSM1580253 MORF4L2 c.725C>T p.T242M Substitution - Missense Central_nervous_system COSM1683348 WHSC1 c.2835_2836insC p.S946fs*21 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1716682 ATRX c.3345T>G p.Y1115* Substitution - Nonsense Central_nervous_system COSM1704989 ING4 c.586A>C p.T196P Substitution - Missense Breast COSM1666778 BAP1 c.256-2A>C p.? Unknown Eye COSM1717486 TET2 c.3954+35T>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1737965 TET2 c.1072A>G p.S358G Substitution - Missense Large_intestine COSM1756769 EP400 c.6312G>T p.M2104I Substitution - Missense Urinary_tract COSM1936735 BAZ2A_ENST00000379441 c.350C>T p.S117L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2152837 SIRT3 c.516T>G p.D172E Substitution - Missense Central_nervous_system COSM2270906 MGA c.7334G>A p.R2445Q Substitution - Missense Large_intestine COSM2740227 RAI1 c.3462G>A p.E1154E Substitution - coding silent Large_intestine COSM3108936 GTF3C1 c.1289C>T p.S430F Substitution - Missense Skin COSM3259655 EZH2 c.1253G>A p.R418Q Substitution - Missense Large_intestine COSM3388107 BPTF c.5110G>A p.A1704T Substitution - Missense Pancreas COSM3500900 BAHD1 c.1509C>T p.L503L Substitution - coding silent Skin COSM3475150 LMNA c.80C>T p.T27I Substitution - Missense Skin COSM3627951 TDRD6 c.1720A>T p.N574Y Substitution - Missense Skin COSM3562285 KDM5C c.2293G>A p.V765I Substitution - Missense Skin COSM3524761 AP001011.3_ENST00000320876 c.5308C>T p.R1770C Substitution - Missense Skin COSM3510237 CHD9 c.7630C>T p.R2544C Substitution - Missense Skin COSM3705785 PRDM16 c.2154G>T p.S718S Substitution - coding silent Liver COSM3708056 BRWD1 c.4968T>C p.C1656C Substitution - coding silent Liver COSM3708058 BRWD1 c.3209-4C>T p.? Unknown Liver COSM3719363 MBTD1 c.158G>A p.G53D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3735025 SMARCA4 c.2049_2049delC p.V684fs*90 Deletion - Frameshift Ovary COSM3741292 KDM4A c.1213A>C p.I405L Substitution - Missense Liver COSM3762192 PHIP c.4236T>A p.A1412A Substitution - coding silent Large_intestine COSM3868803 PRDM10 c.762+2T>G p.? Unknown Skin COSM3863731 TDRD5 c.1284A>T p.V428V Substitution - coding silent Skin COSM3929608 CHD7 c.64G>C p.E22Q Substitution - Missense Central_nervous_system COSM3939007 ATAD2B_ENST00000238789 c.4193G>A p.R1398H Substitution - Missense Oesophagus COSM3841020 CHD6 c.2102T>G p.V701G Substitution - Missense Breast COSM3909803 SP140_ENST00000392045 c.657T>G p.G219G Substitution - coding silent Skin COSM3918243 PRDM8 c.329G>A p.G110E Substitution - Missense Skin COSM3899967 WHSC1L1 c.813C>T p.G271G Substitution - coding silent Stomach COSM3896552 ATAD2 c.3081A>G p.Q1027Q Substitution - coding silent Stomach COSM3950201 KMT2C c.12003T>C p.F4001F Substitution - coding silent Lung COSM3973918 ATRX c.4700-1G>C p.? Unknown Central_nervous_system COSM4044334 CHD4 c.3126C>T p.G1042G Substitution - coding silent Stomach COSM3992487 KDM6A c.385-1G>C p.? Unknown Kidney COSM4113817 HDAC11 c.590G>A p.R197H Substitution - Missense Stomach COSM4093201 NCOA1 c.1017C>T p.S339S Substitution - coding silent Stomach COSM4060202 SRCAP c.4697C>T p.A1566V Substitution - Missense Stomach COSM4076205 DOT1L c.353C>T p.S118L Substitution - Missense Stomach COSM4152402 KAT2B c.1276+7T>A p.? Unknown Kidney COSM4161998 KMT2C c.2726G>A p.R909K Substitution - Missense Thyroid COSM4381744 BAZ2B c.3433G>T p.A1145S Substitution - Missense Large_intestine COSM4404199 ASH2L c.1046A>C p.D349A Substitution - Missense Skin COSM4417183 PHF14 c.2334G>A p.Q778Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4414213 RERE c.1861A>G p.S621G Substitution - Missense Kidney COSM4485412 NCOR1 c.292C>T p.P98S Substitution - Missense Skin COSM4554274 HDAC9 c.499G>A p.G167R Substitution - Missense Skin COSM4448467 BAHCC1 c.7473C>T p.V2491V Substitution - coding silent Skin COSM4471379 PRDM15 c.1716C>T p.F572F Substitution - coding silent Skin COSM4479570 BRPF1 c.233C>T p.P78L Substitution - Missense Skin COSM4697162 L3MBTL4 c.1559T>G p.L520R Substitution - Missense Large_intestine COSM4612964 TDRD1 c.417delA p.K141fs*2 Deletion - Frameshift Large_intestine COSM4637776 ASXL3 c.1425A>T p.Q475H Substitution - Missense Large_intestine COSM4804153 PRMT1 c.715G>T p.E239* Substitution - Nonsense Liver COSM4882249 TET2 c.3782G>T p.R1261L Substitution - Missense Upper_aerodigestive_tract COSM4923641 PHF3 c.334A>T p.R112W Substitution - Missense Liver COSM4900016 KDM3B c.301C>T p.R101C Substitution - Missense Skin COSM4837944 HCFC2 c.135C>T p.I45I Substitution - coding silent Cervix COSM4984477 NSD1 c.1861C>T p.L621F Substitution - Missense Oesophagus COSM4989126 KDM6B c.2281A>G p.T761A Substitution - Missense Biliary_tract COSM5012862 RTF1 c.1725G>T p.L575F Substitution - Missense Kidney COSM5050793 RAG2 c.1325C>T p.A442V Substitution - Missense Stomach COSM5392264 NCOA3 c.2631C>T p.P877P Substitution - coding silent Skin COSM5517538 ATRX c.4680delG p.K1561fs*5 Deletion - Frameshift Biliary_tract COSM5430068 TCF20 c.3071G>A p.R1024K Substitution - Missense Oesophagus COSM5450655 KDM5C c.839A>T p.D280V Substitution - Missense Large_intestine COSM5433359 BTAF1 c.2271C>T p.I757I Substitution - coding silent Oesophagus COSM5427331 MYST3 c.1968G>A p.K656K Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5631718 CHD4 c.5179G>A p.E1727K Substitution - Missense Oesophagus COSM5724942 KMT2A c.6783C>T p.S2261S Substitution - coding silent Skin COSM5587260 ATRX c.3880G>A p.D1294N Substitution - Missense Skin COSM5589793 BAZ2A c.689C>T p.P230L Substitution - Missense Skin COSM5606221 ACTL6B c.162G>A p.L54L Substitution - coding silent Skin COSM5681472 BRDT c.1755G>T p.K585N Substitution - Missense Soft_tissue COSM5752705 CTCF c.349C>T p.Q117* Substitution - Nonsense Breast COSM5750138 DIDO1 c.2360A>G p.N787S Substitution - Missense Stomach COSM5710636 ACTB c.59G>A p.G20D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5558286 TAF1L c.2512A>T p.K838* Substitution - Nonsense Prostate COSM5785086 DNMT3A c.1082A>G p.K361R Substitution - Missense Breast COSM5793967 CXXC1 c.544G>C p.G182R Substitution - Missense Breast COSM5792794 TAF1L c.518C>G p.A173G Substitution - Missense Breast COSM5834939 PHF15 c.1229_1230insCGA p.P410_A411insE Insertion - In frame Breast COSM5825726 EP400 c.8203_8204insAGC p.Q2748_T2749insQ Insertion - In frame Large_intestine COSM5944377 ASXL1 c.1888_1892delCACCA p.H630fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5948541 MUM1 c.1940G>T p.R647L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5909941 ATRX c.7243C>T p.Q2415* Substitution - Nonsense Skin COSM5941853 SETMAR c.720G>A p.M240I Substitution - Missense Skin COSM5903094 CTCF c.508G>A p.G170R Substitution - Missense Skin COSM5926834 KMT2D c.40G>A p.E14K Substitution - Missense Skin COSM5905439 PRDM16 c.278G>A p.G93E Substitution - Missense Skin COSM5886913 CREBBP c.4174C>T p.R1392* Substitution - Nonsense Skin COSM5992041 SMCHD1 c.3063+6delT p.? Unknown Prostate COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM41885 TET2 c.3871T>C p.W1291R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5347190 ARID1A c.?_?del? p.G1847fs*? Deletion - Frameshift Endometrium COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41995 TET2 c.2570_2570delA p.N857fs*16 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43413 TET2 c.?_?ins? p.?fs Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1661545 DOT1L c.852G>C p.L284F Substitution - Missense Kidney COSM3834991 EYA1 c.450T>G p.G150G Substitution - coding silent Breast COSM5045290 KDM6A c.3467A>C p.N1156T Substitution - Missense Oesophagus COSM4020876 TRIM33 c.539G>A p.R180Q Substitution - Missense Stomach COSM1682304 TCF20 c.1816G>A p.V606M Substitution - Missense Large_intestine COSM2061629 KDM4D c.401C>T p.P134L Substitution - Missense Large_intestine COSM5556855 CHD8 c.3575T>C p.I1192T Substitution - Missense Prostate COSM5881943 SFMBT2 c.2003G>C p.R668T Substitution - Missense Large_intestine COSM21481 HNF1A c.872_873insC p.G292fs*25 Insertion - Frameshift Liver COSM4994357 HDAC9 c.886G>T p.V296F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5573573 KAT2A c.1637+2T>C p.? Unknown Prostate COSM219174 HDAC9 c.2819C>T p.T940M Substitution - Missense Breast COSM3669208 BAP1 c.1357A>T p.K453* Substitution - Nonsense Liver COSM5926627 MYST3 c.5485C>T p.Q1829* Substitution - Nonsense Skin COSM21473 HNF1A c.730A>G p.R244G Substitution - Missense Liver COSM4703008 MPHOSPH8 c.1852C>T p.R618* Substitution - Nonsense Large_intestine COSM1726902 SFMBT1 c.1685A>T p.D562V Substitution - Missense Liver COSM5990051 TET2 c.3594+1_3594+2insT p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4694893 KDM2B c.1933_1934insC p.R645fs*48 Insertion - Frameshift Large_intestine COSM283390 NSD1 c.1019G>T p.R340M Substitution - Missense Large_intestine COSM4700982 MBD6 c.82T>C p.C28R Substitution - Missense Large_intestine COSM1288402 TDRD1 c.3094A>C p.T1032P Substitution - Missense Autonomic_ganglia COSM3455348 HCFC2 c.1396C>T p.P466S Substitution - Missense Skin COSM4949634 ARID1A c.271_281>A p.G91fs*7 Complex - frameshift Liver COSM5934019 NCOA6 c.4391C>T p.P1464L Substitution - Missense Skin COSM4115149 PHC3 c.2253T>C p.I751I Substitution - coding silent Stomach COSM4672062 CHD6 c.8114G>T p.G2705V Substitution - Missense Large_intestine COSM4626616 PCGF6 c.943C>T p.Q315* Substitution - Nonsense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Biliary_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM1411842 CHD6 c.2229G>T p.K743N Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Biliary_tract COSM96418 CREBBP c.4477delA p.I1493fs*57 Deletion - Frameshift Ovary COSM255072 EP300 c.4239_4240insT p.Y1414fs*3 Insertion - Frameshift Urinary_tract COSM2909105 HDAC4 c.3031G>A p.A1011T Substitution - Missense Bone COSM121800 SCML2 c.339A>G p.P113P Substitution - coding silent Upper_aerodigestive_tract COSM214069 UBR7 c.285-1G>C p.? Unknown Breast COSM3758729 DIDO1 c.4702A>G p.T1568A Substitution - Missense Thyroid COSM4393615 UHRF1 c.554C>G p.S185C Substitution - Missense Prostate COSM254634 CREBBP c.3779+1G>T p.? Unknown Urinary_tract COSM42028 TET2 c.3640C>T p.R1214W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1047339 ACTR8 c.1368T>C p.R456R Substitution - coding silent Endometrium COSM285555 TAF1 c.5054T>G p.V1685G Substitution - Missense Large_intestine COSM4571599 YEATS4 c.498T>C p.Y166Y Substitution - coding silent Skin COSM5879918 KDM6A c.367C>T p.Q123* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4850867 PRDM9 c.362A>G p.K121R Substitution - Missense Cervix COSM1319218 DUSP1 c.1052A>G p.N351S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4917969 PRMT7 c.704C>A p.P235Q Substitution - Missense Liver COSM4159839 PRDM9 c.2042C>G p.T681S Substitution - Missense Upper_aerodigestive_tract COSM4588736 SMARCA2 c.2929C>T p.L977L Substitution - coding silent Bone COSM3236946 BRD8 c.2352A>T p.V784V Substitution - coding silent Upper_aerodigestive_tract COSM4766058 SMARCB1 c.689C>T p.P230L Substitution - Missense Soft_tissue COSM940030 KMT2D c.8215C>T p.L2739F Substitution - Missense Endometrium COSM4201430 TRIM66 c.1797G>A p.A599A Substitution - coding silent Large_intestine COSM5826989 PHRF1 c.981delC p.L329fs*1 Deletion - Frameshift Large_intestine COSM5419173 TRRAP c.3477G>A p.G1159G Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1638340 SETD4 c.487A>G p.R163G Substitution - Missense Bone COSM1630066 NCOR1 c.515C>T p.S172L Substitution - Missense Thyroid COSM1026845 CHD6 c.7480G>T p.G2494W Substitution - Missense Endometrium COSM3445297 PRDM10 c.1543C>T p.Q515* Substitution - Nonsense Skin COSM1754571 SHPRH c.4170A>G p.E1390E Substitution - coding silent Urinary_tract COSM1220340 PHF14 c.1616C>T p.A539V Substitution - Missense Large_intestine COSM4960296 TCF20 c.1356G>A p.G452G Substitution - coding silent Liver COSM461811 EHMT2 c.781G>A p.E261K Substitution - Missense Cervix COSM3495052 PRMT5 c.1124C>T p.S375F Substitution - Missense Skin COSM221586 TET2 c.2477_2478GT>TA p.S826I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5904410 INOC1 c.1924C>T p.Q642* Substitution - Nonsense Skin COSM4414540 EPC2 c.769A>T p.T257S Substitution - Missense Kidney COSM4934690 PRDM1 c.876C>T p.P292P Substitution - coding silent Liver COSM1225337 SETBP1 c.1523C>T p.T508M Substitution - Missense Large_intestine COSM3434301 TDRD1 c.3025C>T p.R1009C Substitution - Missense Skin COSM4610705 EPC1 c.2327A>G p.H776R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1088626 STK31 c.1034C>A p.A345D Substitution - Missense Endometrium COSM3766327 DPF1 c.992-4G>A p.? Unknown Liver COSM4929868 ZGPAT c.117G>A p.L39L Substitution - coding silent Liver COSM1375398 IDH2 c.560A>T p.D187V Substitution - Missense Large_intestine COSM972490 CTCF c.1342C>T p.R448* Substitution - Nonsense Endometrium COSM5049454 PHF3 c.2776C>A p.Q926K Substitution - Missense Oesophagus COSM5766186 ATRX c.2469_2469delA p.E824fs*2 Deletion - Frameshift Central_nervous_system COSM2154707 RNF134 c.553A>G p.I185V Substitution - Missense Central_nervous_system COSM5801687 KMT2A c.1379delA p.K461fs*106 Deletion - Frameshift Breast COSM3706247 BAZ1A c.1129-9A>C p.? Unknown Liver COSM1084039 PHF14 c.514G>A p.A172T Substitution - Missense Endometrium COSM309537 BRWD1 c.5282A>G p.K1761R Substitution - Missense Lung COSM987401 AP001011.3_ENST00000320876 c.2701-1G>T p.? Unknown Endometrium COSM3967415 PRDM10 c.1571G>A p.R524Q Substitution - Missense Central_nervous_system COSM1453202 TRRAP c.7665G>A p.T2555T Substitution - coding silent Large_intestine COSM1746136 PRDM10 c.1735T>C p.S579P Substitution - Missense Urinary_tract COSM4902018 NCOA6 c.5230C>T p.P1744S Substitution - Missense Skin COSM1030667 BRWD1 c.6252T>C p.N2084N Substitution - coding silent Endometrium COSM1121604 KDM6A c.3677_3678insT p.W1227fs*24 Insertion - Frameshift Endometrium COSM4956675 SFMBT2 c.2169C>T p.D723D Substitution - coding silent Large_intestine COSM4060282 SETD1A c.3951C>A p.P1317P Substitution - coding silent Stomach COSM5672317 NCOA7 c.1198G>T p.A400S Substitution - Missense Soft_tissue COSM2720132 CHD7 c.6744C>T p.D2248D Substitution - coding silent Large_intestine COSM4550742 PCGF1 c.471G>T p.L157F Substitution - Missense Skin COSM2158519 JMJD1C c.1981T>C p.S661P Substitution - Missense Soft_tissue COSM4921844 ASXL1 c.686C>A p.P229Q Substitution - Missense Liver COSM4775120 DNMT3A c.1618T>G p.C540G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5351691 TET2 c.1559_1560insT p.S521fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5604834 SETD1A c.815C>T p.P272L Substitution - Missense Skin COSM1245453 ARID2 c.2500C>T p.Q834* Substitution - Nonsense Oesophagus COSM261225 HAT1 c.417C>T p.F139F Substitution - coding silent Large_intestine COSM4580884 LMNB2 c.1364G>A p.S455N Substitution - Missense Bone COSM423135 PBRM1 c.3745delA p.I1249fs*20 Deletion - Frameshift Kidney COSM1687265 ARID1A c.4372C>T p.Q1458* Substitution - Nonsense Skin COSM675439 TDRKH c.250G>T p.A84S Substitution - Missense Lung COSM4061904 CTCF c.1181T>C p.L394P Substitution - Missense Stomach COSM3855051 NIPBL c.7488A>G p.E2496E Substitution - coding silent Stomach COSM4383968 TET2 c.5556delG p.S1853fs*34 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5510979 MUM1 c.816C>T p.H272H Substitution - coding silent Biliary_tract COSM4644353 BAZ2B c.2499T>A p.D833E Substitution - Missense Large_intestine COSM1444085 BRPF3 c.3092C>T p.T1031M Substitution - Missense Soft_tissue COSM41293 IDH1 c.? p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4790890 NIPBL c.545G>T p.S182I Substitution - Missense Liver COSM5899707 SRCAP c.5390C>T p.T1797I Substitution - Missense Skin COSM3905426 BRD3 c.991G>A p.A331T Substitution - Missense Stomach COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM329439 KDM2A c.2239G>A p.D747N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1732018 BAP1 c.1701_1702insCT p.G568fs*4 Insertion - Frameshift Kidney COSM1406747 ATAD2B_ENST00000238789 c.920delA p.K307fs*57 Deletion - Frameshift Large_intestine COSM3906168 EHMT1 c.1083C>T p.D361D Substitution - coding silent Stomach COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2158553 JMJD1C c.1554T>C p.P518P Substitution - coding silent Large_intestine COSM1492053 HDAC1 c.1162G>A p.A388T Substitution - Missense Liver COSM51949 PBRM1 c.3445G>T p.E1149* Substitution - Nonsense Kidney COSM3514760 RAI1 c.3082G>A p.E1028K Substitution - Missense Skin COSM4689522 HAT1 c.849G>C p.V283V Substitution - coding silent Large_intestine COSM3919885 PRDM9 c.277G>A p.E93K Substitution - Missense Skin COSM168089 KMT2D c.6251delC p.P2084fs*30 Deletion - Frameshift Large_intestine COSM3788492 TTF2 c.592G>C p.E198Q Substitution - Missense Urinary_tract COSM5020034 PBRM1 c.1925-5T>C p.? Unknown Soft_tissue COSM1197153 EP400 c.7988C>T p.T2663M Substitution - Missense Soft_tissue COSM4416947 NSD1 c.1840G>C p.V614L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3559628 HCFC1 c.2959G>A p.E987K Substitution - Missense Skin COSM79209 JARID2 c.733G>T p.E245* Substitution - Nonsense Ovary COSM691519 TDG c.1016A>G p.E339G Substitution - Missense Lung COSM1616547 PHF21B c.1514C>A p.A505D Substitution - Missense Liver COSM916360 PWWP2B c.1440C>T p.C480C Substitution - coding silent Endometrium COSM159983 CHD6 c.5229G>A p.G1743G Substitution - coding silent Breast COSM3699869 SUV39H2 c.123A>C p.L41F Substitution - Missense Liver COSM1978050 PRDM10 c.677G>A p.R226H Substitution - Missense Large_intestine COSM939506 ARID2 c.2969C>T p.S990L Substitution - Missense Skin COSM5747332 KMT2A c.1320T>G p.I440M Substitution - Missense Pancreas COSM3876911 MLL5 c.4835C>T p.S1612F Substitution - Missense Stomach COSM5052871 RNF2 c.240T>C p.L80L Substitution - coding silent Stomach COSM215535 KMT2D c.14333G>A p.R4778H Substitution - Missense Central_nervous_system COSM147595 TDG c.510G>A p.E170E Substitution - coding silent Thyroid COSM5905479 DNMT3A c.923G>T p.G308V Substitution - Missense Skin COSM241569 SETBP1 c.1589G>A p.R530Q Substitution - Missense Prostate COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5407169 HDAC9 c.1231C>T p.Q411* Substitution - Nonsense Skin COSM5945692 ATRX c.? p.K971fs*? Frameshift Central_nervous_system COSM52898 PBRM1 c.4472_4474>AA p.P1491fs*14 Complex - frameshift Kidney COSM3430823 PHF3 c.101T>G p.F34C Substitution - Missense Large_intestine COSM1118568 RBBP7 c.609G>A p.L203L Substitution - coding silent Endometrium COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2235470 ARID1A c.2789A>G p.Y930C Substitution - Missense Stomach COSM4065087 PHF12 c.2529A>G p.I843M Substitution - Missense Stomach COSM1066308 NSD1 c.7055G>T p.R2352I Substitution - Missense Endometrium COSM3367208 PHF20L1 c.457G>A p.A153T Substitution - Missense Kidney COSM4694950 KDM4A c.680T>C p.F227S Substitution - Missense Large_intestine COSM4855960 BPTF c.4943C>G p.S1648C Substitution - Missense Cervix COSM1063 SMARCB1 c.189_196delAGTTGCAT p.I63fs*5 Deletion - Frameshift Soft_tissue COSM316223 TRRAP c.8288A>T p.E2763V Substitution - Missense Soft_tissue COSM1131647 KMT2C c.2755G>C p.V919L Substitution - Missense Soft_tissue COSM1754665 KDM1B c.1429C>T p.L477L Substitution - coding silent Urinary_tract COSM4751600 ARID1A c.2834G>A p.G945E Substitution - Missense Skin COSM1122192 HDAC6 c.1728C>T p.F576F Substitution - coding silent Skin COSM4623334 CREBBP c.1065G>A p.Q355Q Substitution - coding silent Large_intestine COSM3923202 KMT2C c.2944C>T p.Q982* Substitution - Nonsense Skin COSM1107411 PSIP1 c.940C>T p.R314* Substitution - Nonsense Skin COSM3942736 NCOA2 c.2249A>T p.D750V Substitution - Missense Oesophagus COSM267174 PHF23 c.768G>A p.E256E Substitution - coding silent Large_intestine COSM52790 PBRM1 c.4288+1G>T p.? Unknown Kidney COSM301704 ARID1B c.2181A>G p.R727R Substitution - coding silent Central_nervous_system COSM133126 DNMT3A c.2204A>G p.Y735C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3384161 EP400 c.8553+1G>A p.? Unknown Pancreas COSM3379809 BAZ2B c.3395T>C p.M1132T Substitution - Missense Pancreas COSM948240 TDRD3 c.1783G>A p.G595R Substitution - Missense Endometrium COSM52790 PBRM1 c.4288+1G>T p.? Unknown Kidney COSM4060694 CREBBP c.6342C>T p.G2114G Substitution - coding silent Stomach COSM2834950 CHD9 c.8025C>A p.A2675A Substitution - coding silent Large_intestine COSM3668821 MBD5 c.3852G>A p.V1284V Substitution - coding silent Liver COSM3794897 BRD7 c.1273G>A p.D425N Substitution - Missense Urinary_tract COSM5487426 EZH2 c.728+5G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM21134 BRD3 c.107C>A p.T36N Substitution - Missense Kidney COSM4951812 ZMYM1 c.2077T>G p.L693V Substitution - Missense Liver COSM4475335 SCMH1 c.1773C>T p.F591F Substitution - coding silent Skin COSM372093 POGZ c.3257_3258GG>TT p.R1086>? Complex Lung COSM5023971 BPTF c.3539C>T p.P1180L Substitution - Missense Bone COSM5616167 PHF2 c.2129A>T p.K710M Substitution - Missense Lung COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM5375285 KMT2D c.2471C>T p.P824L Substitution - Missense Skin COSM307525 PHF1 c.967_969delAAG p.K324delK Deletion - In frame Kidney COSM97184 ASXL1 c.2428_2440del13 p.D810fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5897252 HDAC8 c.827C>T p.S276F Substitution - Missense Skin COSM4732909 TDRD6 c.832C>T p.R278C Substitution - Missense Large_intestine COSM1316066 KMT2D c.7591C>T p.R2531* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM3932734 ZBTB4 c.1009T>G p.Y337D Substitution - Missense Urinary_tract COSM3295025 NCOA3 c.1354T>C p.S452P Substitution - Missense Large_intestine COSM908666 ZMYM4 c.460G>T p.D154Y Substitution - Missense Endometrium COSM721473 SMEK2 c.918G>T p.L306F Substitution - Missense Lung COSM4911951 MGA c.9009C>A p.L3003L Substitution - coding silent Liver COSM1118760 SCML2 c.1575A>G p.E525E Substitution - coding silent Endometrium COSM5599661 HDAC1 c.234C>T p.S78S Substitution - coding silent Skin COSM1719481 MECOM c.2543G>A p.R848Q Substitution - Missense Skin COSM1704990 ING4 c.446C>T p.S149L Substitution - Missense Skin COSM4729944 SRCAP c.7652C>T p.A2551V Substitution - Missense Large_intestine COSM232276 EYA2 c.584C>T p.S195L Substitution - Missense Stomach COSM243844 CREBBP c.759C>T p.H253H Substitution - coding silent Prostate COSM4772180 KMT2A c.7455_7456insT p.K2486fs*1 Insertion - Frameshift Stomach COSM2866782 TRRAP c.8192C>T p.A2731V Substitution - Missense Large_intestine COSM6002479 RAI1 c.195G>A p.T65T Substitution - coding silent Prostate COSM1719481 MECOM c.2543G>A p.R848Q Substitution - Missense Skin COSM1715181 ATRX c.1885C>T p.L629F Substitution - Missense Skin COSM4592007 RAI1 c.841_843delCAG p.Q291delQ Deletion - In frame Upper_aerodigestive_tract COSM4076476 LMNB2 c.1707G>A p.G569G Substitution - coding silent Stomach COSM4767796 EP300 c.3183T>A p.T1061T Substitution - coding silent Large_intestine COSM955459 BAZ1A c.2947C>A p.L983I Substitution - Missense Endometrium COSM4036873 RSF1 c.3437G>A p.R1146H Substitution - Missense Stomach COSM1043287 KAT2B c.636G>T p.K212N Substitution - Missense Endometrium COSM4663272 ARID2 c.3831C>T p.N1277N Substitution - coding silent Large_intestine COSM3463516 BAZ2A_ENST00000379441 c.5047C>G p.R1683G Substitution - Missense Skin COSM4384076 NSD1 c.3330C>A p.F1110L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1333943 VPS72 c.682A>G p.K228E Substitution - Missense Large_intestine COSM5977860 PRDM2 c.2393C>T p.P798L Substitution - Missense Upper_aerodigestive_tract COSM5010506 ARID1A c.5113A>G p.N1705D Substitution - Missense Kidney COSM4000327 CBX4 c.871T>C p.S291P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1670144 DHX30 c.971C>T p.P324L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5467531 TDRD7 c.1504T>C p.Y502H Substitution - Missense Large_intestine COSM4653340 PRDM15 c.334C>T p.R112C Substitution - Missense Large_intestine COSM934228 HCFC2 c.1786C>T p.R596* Substitution - Nonsense Stomach COSM5816955 HDAC9 c.3085C>T p.Q1029* Substitution - Nonsense Liver COSM4834159 ZMYM2 c.2641G>C p.E881Q Substitution - Missense Cervix COSM3842808 TCF20 c.4106C>T p.S1369F Substitution - Missense Breast COSM88791 EP300 c.4636delA p.N1547fs*17 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1079907 TDRD6 c.4160T>G p.F1387C Substitution - Missense Endometrium COSM52013 TET2 c.? p.F1368Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144218 ATRX c.4179_4182delTAGT p.S1394fs*95 Deletion - Frameshift Central_nervous_system COSM97816 EP300 c.4154G>T p.C1385F Substitution - Missense Oesophagus COSM963079 PYGO1 c.86G>A p.G29D Substitution - Missense Endometrium COSM111693 KAT6B c.3289_3291delGAA p.E1097delE Deletion - In frame Soft_tissue COSM1081869 PHIP c.1187G>A p.R396Q Substitution - Missense Endometrium COSM256058 ADNP c.3266A>G p.H1089R Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4789297 SETDB2 c.548A>G p.H183R Substitution - Missense Liver COSM5423563 MGA c.3176delC p.S1060fs*2 Deletion - Frameshift Prostate COSM5700633 ZMYM4 c.930A>T p.P310P Substitution - coding silent Soft_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2834956 CHD9 c.8262A>G p.K2754K Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1266210 SMARCA2 c.306T>C p.P102P Substitution - coding silent Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5575806 MYST3 c.4618G>A p.D1540N Substitution - Missense Stomach COSM3746109 PHF2 c.2838G>A p.E946E Substitution - coding silent Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5705738 ARID4A c.1939-1G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4629975 SMARCC2 c.1288G>A p.A430T Substitution - Missense Large_intestine COSM3521183 BPTF c.2578A>G p.K860E Substitution - Missense Skin COSM4824099 KMT2C c.6658C>T p.Q2220* Substitution - Nonsense Breast COSM4479656 BAZ1A c.2347C>T p.Q783* Substitution - Nonsense Skin COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM5352519 ARID1A c.875delC p.T294fs*69 Deletion - Frameshift Bone COSM463917 SMYD2 c.1249G>A p.G417S Substitution - Missense Kidney COSM5751872 DNMT3A c.1198G>GT p.E400fs*9 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM3479277 TDRD5 c.616G>A p.E206K Substitution - Missense Skin COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4392499 BRPF1 c.191A>G p.K64R Substitution - Missense Prostate COSM1605810 EP400 c.6224A>G p.E2075G Substitution - Missense Breast COSM3366798 TIF1 c.3039G>C p.Q1013H Substitution - Missense Kidney COSM4111162 ATRX c.830T>C p.V277A Substitution - Missense Stomach COSM87721 EED c.949G>A p.D317N Substitution - Missense Endometrium COSM1756658 ZMYM3 c.1253T>G p.V418G Substitution - Missense Urinary_tract COSM4795695 TAF1L c.5217G>A p.G1739G Substitution - coding silent Liver COSM4809069 ZMYM5 c.838C>T p.R280C Substitution - Missense Pancreas COSM1493540 CHD2 c.2998C>T p.R1000W Substitution - Missense Kidney COSM4762902 GATAD2B c.1705G>A p.A569T Substitution - Missense Stomach COSM895835 POGZ c.1522C>T p.R508* Substitution - Nonsense Endometrium COSM5513793 HDAC6 c.2634C>T p.G878G Substitution - coding silent Biliary_tract COSM6004479 ADNP c.1913C>G p.A638G Substitution - Missense Prostate COSM5384870 CREBBP c.2961G>A p.Q987Q Substitution - coding silent Prostate COSM253390 DNMT3A c.? p.C911Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5762915 PHF6 c.661G>T p.E221* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3858409 EYA4 c.875C>T p.A292V Substitution - Missense Stomach COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Large_intestine COSM3807476 JMJD1C c.887A>C p.D296A Substitution - Missense Breast COSM1079914 TDRD6 c.5432A>G p.Y1811C Substitution - Missense Endometrium COSM21294 TRRAP c.8738C>T p.T2913M Substitution - Missense Large_intestine COSM13926 SMARCD3 c.481G>C p.D161H Substitution - Missense Lung COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM53191 SMARCA4 c.2505+2T>C p.? Unknown Lung COSM49150 EZH2 c.2020T>G p.L674V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM88746 CREBBP c.5035_5037delTCC p.S1680delS Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM110737 BAP1 c.133G>T p.G45* Substitution - Nonsense Skin COSM133009 ARID1A c.2468_2469insTA p.P824fs*10 Insertion - Frameshift Large_intestine COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Thyroid COSM149669 GABRG1 c.264A>G p.T88T Substitution - coding silent Stomach COSM211723 TET2 c.3837_3838delAA p.E1279fs*20 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM215670 RAI1 c.5503G>A p.V1835I Substitution - Missense Central_nervous_system COSM227186 ARID1A c.1939G>A p.D647N Substitution - Missense Skin COSM242909 ALKBH1 c.668G>T p.R223L Substitution - Missense Prostate COSM245966 NCOA3 c.3756G>A p.Q1252Q Substitution - coding silent Kidney COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Large_intestine COSM249324 SETD2 c.4409delC p.P1470fs*33 Deletion - Frameshift Kidney COSM252982 CREBBP c.3370-5_3370-4delTT p.? Unknown Oesophagus COSM261995 MGA c.3724C>T p.R1242* Substitution - Nonsense Large_intestine COSM263776 AP001011.3_ENST00000320876 c.3035G>T p.R1012I Substitution - Missense Large_intestine COSM276106 MPHOSPH8 c.611C>A p.S204Y Substitution - Missense Large_intestine COSM289208 EHMT2 c.845G>A p.R282H Substitution - Missense Large_intestine COSM334219 TDRD5 c.421G>T p.D141Y Substitution - Missense Lung COSM348307 BTAF1 c.2989C>G p.Q997E Substitution - Missense Lung COSM386880 ASXL3 c.2558C>T p.S853F Substitution - Missense Lung COSM394389 PRDM10 c.475G>T p.D159Y Substitution - Missense Lung COSM437716 CHD3 c.2095_2097delAAG p.K703delK Deletion - In frame Breast COSM431043 PRMT8 c.1180C>T p.R394C Substitution - Missense Pancreas COSM479398 MBD4 c.1264T>C p.Y422H Substitution - Missense Kidney COSM471555 GTF3C1 c.2237G>A p.S746N Substitution - Missense Kidney COSM485083 KMT2C c.7330A>G p.R2444G Substitution - Missense Kidney COSM480330 PBRM1 c.3154C>T p.R1052* Substitution - Nonsense Kidney COSM680128 EYA3 c.855G>T p.K285N Substitution - Missense Large_intestine COSM1015580 IDH1 c.274T>C p.W92R Substitution - Missense Endometrium COSM742767 TDRD6 c.1903G>C p.D635H Substitution - Missense Lung COSM734367 GABRG1 c.496C>A p.R166S Substitution - Missense Lung COSM737612 NSD1 c.1766C>G p.S589C Substitution - Missense Lung COSM913249 BRDT c.2791G>A p.D931N Substitution - Missense Endometrium COSM928931 GLYATL1 c.842G>A p.R281Q Substitution - Missense Skin COSM1008148 BAZ2B c.5255T>G p.L1752W Substitution - Missense Endometrium COSM989553 L3MBTL4 c.553-1G>T p.? Unknown Endometrium COSM1602139 ARID1A c.1138-1_1138insCCAT p.S382fs*19 Unknown Liver COSM1061231 BRD8 c.3266C>T p.T1089I Substitution - Missense Endometrium COSM1109433 KIAA2026_ENST00000399933 c.5022T>G p.A1674A Substitution - coding silent Endometrium COSM1128292 PRMT5 c.111G>T p.G37G Substitution - coding silent Prostate COSM1105702 SET c.257T>G p.F86C Substitution - Missense Endometrium COSM1101392 PRDM14 c.1119T>G p.F373L Substitution - Missense Endometrium COSM1162342 PHC1 c.918A>G p.R306R Substitution - coding silent Thyroid COSM1180905 HDAC4 c.2703delC p.M902fs*55 Deletion - Frameshift Large_intestine COSM1605809 EP400 c.5159T>A p.V1720D Substitution - Missense Liver COSM42029 TET2 c.3646C>T p.R1216* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1397351 TRIM28 c.2142C>T p.H714H Substitution - coding silent Large_intestine COSM1411834 CHD6 c.4806C>T p.N1602N Substitution - coding silent Stomach COSM1462006 TAF1L c.2772G>T p.E924D Substitution - Missense Large_intestine COSM1568778 TRRAP c.9966G>A p.A3322A Substitution - coding silent Large_intestine COSM1483947 BRWD1 c.3150_3151delTG p.D1051fs*9 Deletion - Frameshift Breast COSM1624024 MYST3 c.3401A>G p.K1134R Substitution - Missense Liver COSM1639818 ARID1A c.4350delC p.Q1452fs*29 Deletion - Frameshift Stomach COSM1679475 ZBTB4 c.766T>C p.C256R Substitution - Missense Large_intestine COSM1644033 KDM6A c.3253G>A p.G1085R Substitution - Missense Stomach COSM1681834 DIDO1 c.1834A>G p.R612G Substitution - Missense Large_intestine COSM1701031 TAF1L c.4939G>A p.E1647K Substitution - Missense Skin COSM1660737 BAZ2B c.3062G>A p.R1021H Substitution - Missense Kidney COSM1660003 ZBTB38 c.3406delA p.T1136fs*23 Deletion - Frameshift Kidney COSM1727003 TTF2 c.1165C>T p.R389* Substitution - Nonsense Liver COSM1726451 ATAD2B_ENST00000238789 c.1030C>T p.R344C Substitution - Missense Liver COSM1745546 UTY c.92_93insAG p.S31fs*9 Insertion - Frameshift Urinary_tract COSM1749023 UBR7 c.788C>G p.S263C Substitution - Missense Urinary_tract COSM1724237 PRMT8 c.91T>C p.S31P Substitution - Missense Large_intestine COSM2022726 MGMT c.617G>A p.R206Q Substitution - Missense Upper_aerodigestive_tract COSM2068727 HDAC7 c.2304delC p.M769fs*12 Deletion - Frameshift Stomach COSM2078426 PRDM16 c.2235C>T p.L745L Substitution - coding silent Skin COSM2140836 CHD2 c.758T>G p.V253G Substitution - Missense Upper_aerodigestive_tract COSM2235571 ARID1A c.6343C>T p.Q2115* Substitution - Nonsense Skin COSM2813591 SMARCA4 c.2057_2059delAGA p.K689delK Deletion - In frame Skin COSM2965389 KDM6A c.2380A>C p.T794P Substitution - Missense Upper_aerodigestive_tract COSM3087175 BAZ1B c.737G>A p.R246H Substitution - Missense Large_intestine COSM3296137 MBD5 c.1536C>T p.S512S Substitution - coding silent Upper_aerodigestive_tract COSM3341243 NSD1 c.6924C>T p.S2308S Substitution - coding silent Skin COSM3393520 PRDM9 c.591G>A p.P197P Substitution - coding silent Pancreas COSM3377741 CHD2 c.2995T>C p.L999L Substitution - coding silent Pancreas COSM3391883 KDM3A c.2777G>A p.R926K Substitution - Missense Pancreas COSM3488890 ZMYM4 c.2125C>T p.Q709* Substitution - Nonsense Skin COSM3461527 KMT2D c.12870C>T p.S4290S Substitution - coding silent Skin COSM3642786 TRRAP c.5190G>A p.Q1730Q Substitution - coding silent Skin COSM3536909 PRMT1 c.944C>T p.P315L Substitution - Missense Skin COSM3525407 ASXL3 c.38C>T p.A13V Substitution - Missense Skin COSM3656826 TAF1L c.5430C>T p.P1810P Substitution - coding silent Skin COSM3654893 PRDM12 c.623C>T p.T208I Substitution - Missense Skin COSM3694076 EP300 c.1282+1G>A p.? Unknown Large_intestine COSM3722551 KMT2D c.6669G>T p.G2223G Substitution - coding silent Soft_tissue COSM3805026 ZMYM6 c.3511G>C p.E1171Q Substitution - Missense Breast COSM3817820 SRCAP c.3990A>C p.A1330A Substitution - coding silent Breast COSM3794534 CHD2 c.3193G>C p.E1065Q Substitution - Missense Urinary_tract COSM3861752 BAG6 c.821T>C p.L274P Substitution - Missense Stomach COSM3829232 SHPRH c.1999G>A p.D667N Substitution - Missense Breast COSM3827993 NIPBL c.1498A>G p.K500E Substitution - Missense Breast COSM3949385 PHF3 c.2737G>A p.V913I Substitution - Missense Lung COSM3945531 SMARCC1 c.2889T>C p.H963H Substitution - coding silent Lung COSM3963201 SMYD1 c.479C>A p.P160Q Substitution - Missense Lung COSM3973912 ATRX c.4838T>A p.L1613* Substitution - Nonsense Central_nervous_system COSM3970694 SMARCA4 c.3702C>G p.F1234L Substitution - Missense Central_nervous_system COSM4012673 MGMT c.118G>A p.A40T Substitution - Missense Stomach COSM4122221 PHF17 c.838G>A p.V280I Substitution - Missense Stomach COSM4152822 ARID2 c.1308T>A p.I436I Substitution - coding silent Kidney COSM4169725 KAT6B c.3844G>T p.E1282* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4385073 ASXL1 c.1537G>T p.E513* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4507267 PHF17 c.741C>T p.C247C Substitution - coding silent Skin COSM4527003 RNF17 c.1433G>A p.G478E Substitution - Missense Skin COSM4572342 CHD8 c.7161T>C p.A2387A Substitution - coding silent Skin COSM4593385 ARID2 c.4663G>T p.A1555S Substitution - Missense Upper_aerodigestive_tract COSM4526464 PRDM9 c.1398G>A p.R466R Substitution - coding silent Skin COSM4590278 KDM2A c.310A>G p.S104G Substitution - Missense Soft_tissue COSM4765036 CHD3 c.1612_1613insC p.R540fs*47 Insertion - Frameshift Biliary_tract COSM4611655 HDAC2 c.33delA p.V12fs*20 Deletion - Frameshift Large_intestine COSM4611935 NCOA6 c.806_807insACA p.Q285_L286insQ Insertion - In frame Large_intestine COSM4760502 TTF2 c.167T>G p.F56C Substitution - Missense Stomach COSM4799173 PHF23 c.972G>A p.M324I Substitution - Missense Liver COSM4926420 BAZ2B c.199A>C p.S67R Substitution - Missense Liver COSM4855244 TDRD6 c.5524G>C p.D1842H Substitution - Missense Cervix COSM4821472 GATAD2B c.1426G>C p.E476Q Substitution - Missense Cervix COSM4946460 AP001011.3_ENST00000320876 c.5506A>G p.I1836V Substitution - Missense Liver COSM4945774 MYST3 c.4393G>T p.D1465Y Substitution - Missense Liver COSM4990886 CREBBP c.3395C>T p.P1132L Substitution - Missense Skin COSM4980738 BTAF1 c.2971C>T p.P991S Substitution - Missense Oesophagus COSM4976217 HDAC7 c.1791C>T p.L597L Substitution - coding silent Oesophagus COSM5054275 INOC1 c.899G>A p.R300H Substitution - Missense Stomach COSM5346912 ARID1A c.1705_1712delGCACCCTC p.A569fs*51 Deletion - Frameshift Endometrium COSM5407163 HDAC9 c.1163G>A p.G388E Substitution - Missense Skin COSM5520697 CHD7 c.8731C>A p.P2911T Substitution - Missense Biliary_tract COSM5436206 NCOA5 c.1466G>A p.G489E Substitution - Missense Oesophagus COSM5421129 KDM4B c.1747G>T p.G583C Substitution - Missense Prostate COSM5649106 SMNDC1 c.658C>T p.P220S Substitution - Missense Oesophagus COSM5623794 KDM2B c.2777C>G p.S926C Substitution - Missense Oesophagus COSM5650061 IDH2 c.1065_1066insA p.R356fs*>98 Insertion - Frameshift Oesophagus COSM5650222 BAHCC1 c.4774C>T p.R1592W Substitution - Missense Oesophagus COSM5751449 SETBP1 c.4204_4205insT p.R1402fs*65 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5770031 MBD1 c.1225C>T p.P409S Substitution - Missense Breast COSM5722492 CDYL2 c.62G>A p.G21E Substitution - Missense Skin COSM5589072 SUV420H1 c.1493G>T p.G498V Substitution - Missense Skin COSM5602393 TAF1L c.4222C>T p.L1408L Substitution - coding silent Skin COSM5685469 JHDM1D c.2421G>T p.W807C Substitution - Missense Soft_tissue COSM5777568 PHF20L1 c.574A>T p.T192S Substitution - Missense Breast COSM5822655 RNF17 c.277A>T p.I93F Substitution - Missense Liver COSM5797122 NIPBL c.6694C>T p.Q2232* Substitution - Nonsense Breast COSM5883637 BRWD1 c.3743G>C p.R1248T Substitution - Missense Pancreas COSM5945015 TET2 c.1264G>T p.G422* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5945140 EZH2 c.38T>C p.V13A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5896966 TAF1L c.4637C>T p.P1546L Substitution - Missense Skin COSM5943207 PRDM15 c.1383+6_1383+7insA p.? Unknown Skin COSM5941845 RUVBL1 c.275C>T p.P92L Substitution - Missense Skin COSM5923111 BAHD1 c.1556C>T p.P519L Substitution - Missense Skin COSM166415 ASXL1 c.? p.E1102D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85769 EZH2 c.? p.Y646? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716177 EZH2 c.? p.Y646H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4111164 ATRX c.826T>G p.L276V Substitution - Missense Stomach COSM1007241 MBD5 c.3887G>A p.R1296Q Substitution - Missense Endometrium COSM76814 TRIM24 c.3006G>C p.K1002N Substitution - Missense Ovary COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM1025721 ASXL1 c.731G>A p.R244H Substitution - Missense Endometrium COSM695870 MPHOSPH8 c.1574C>T p.S525L Substitution - Missense Kidney COSM430197 HCFC2 c.1285-1G>A p.? Unknown Breast COSM1124817 ZMYM3 c.1092G>T p.K364N Substitution - Missense Endometrium COSM4590139 KAT2A c.1586A>C p.H529P Substitution - Missense Upper_aerodigestive_tract COSM3112846 SRCAP c.1950C>T p.T650T Substitution - coding silent Skin COSM5408776 ATAD2 c.2736C>T p.I912I Substitution - coding silent Skin COSM1255488 KDM3A c.2288A>G p.K763R Substitution - Missense Oesophagus COSM3384099 KDM2B c.2396C>T p.S799L Substitution - Missense Pancreas COSM912759 RERE c.350G>T p.R117M Substitution - Missense Endometrium COSM1697482 PHF3 c.5857C>T p.Q1953* Substitution - Nonsense Skin COSM1123041 SMC1A c.533C>T p.A178V Substitution - Missense Large_intestine COSM1667937 POGZ c.3026G>A p.R1009H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41644 TET2 c.1648C>T p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4529215 PRDM9 c.1594G>A p.G532S Substitution - Missense Skin COSM5798827 BRDT c.1821G>A p.L607L Substitution - coding silent Breast COSM86976 IKZF1 c.1-?_40+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1216521 MYST2 c.302G>A p.G101D Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM3417646 SETDB2 c.84A>G p.V28V Substitution - coding silent Large_intestine COSM4445637 CHD2 c.2578-3C>A p.? Unknown Skin COSM3767296 PHC3 c.1611G>A p.Q537Q Substitution - coding silent Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5958613 LBR c.1294delG p.V432fs*11 Deletion - Frameshift Thyroid COSM5677649 KDM4D c.928T>A p.C310S Substitution - Missense Soft_tissue COSM4147330 MBD6 c.1367C>T p.P456L Substitution - Missense Thyroid COSM4624753 HDAC10 c.834G>A p.T278T Substitution - coding silent Large_intestine COSM211632 TET2 c.5609C>T p.S1870L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM224027 ASXL1 c.2314G>A p.A772T Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5989686 TET2 c.5736T>A p.H1912Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85818 ATRX c.6235C>T p.R2079* Substitution - Nonsense Endometrium COSM5424295 ZMYM1 c.1147-3A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM894497 TTF2 c.3379T>G p.L1127V Substitution - Missense Endometrium COSM79296 TDRD7 c.2158C>T p.R720* Substitution - Nonsense Ovary COSM41294 IDH1 c.? p.R132C Substitution - Missense Biliary_tract COSM1738321 RAI1 c.825C>G p.S275R Substitution - Missense Ovary COSM1095768 ATAD2 c.1178G>A p.R393Q Substitution - Missense Endometrium COSM3958063 SMYD4 c.696A>G p.S232S Substitution - coding silent Lung COSM3108878 GTF3C1 c.3563G>T p.C1188F Substitution - Missense Soft_tissue COSM4159839 PRDM9 c.2042C>G p.T681S Substitution - Missense Upper_aerodigestive_tract COSM4974773 PRDM9 c.823C>T p.P275S Substitution - Missense Oesophagus COSM5751202 CTCF c.678C>AC p.Y226fs*1 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM5908833 ATAD2 c.2174C>T p.P725L Substitution - Missense Skin COSM1100818 CHD7 c.4268A>G p.E1423G Substitution - Missense Endometrium COSM1240714 ZMYM4 c.1558G>A p.A520T Substitution - Missense Stomach COSM5440235 KAT6B c.5582T>C p.L1861P Substitution - Missense Oesophagus COSM5954260 ATAD2 c.1522G>T p.E508* Substitution - Nonsense Upper_aerodigestive_tract COSM5021083 EP300 c.4311A>C p.A1437A Substitution - coding silent Soft_tissue COSM2270978 ASXL1 c.2922C>G p.Y974* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1465521 SMARCA1 c.169_171delAAG p.K57delK Deletion - In frame Large_intestine COSM3667851 CREBBP c.6012A>T p.R2004R Substitution - coding silent Liver COSM4646549 HDAC5 c.1329C>A p.S443S Substitution - coding silent Large_intestine COSM4384166 MLL5 c.5279C>T p.P1760L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1388398 SMCHD1 c.3065G>A p.S1022N Substitution - Missense Large_intestine COSM3957078 CHD2 c.416G>A p.R139K Substitution - Missense Lung COSM1686328 BRWD3 c.754C>T p.R252* Substitution - Nonsense Skin COSM231543 ARID2 c.2872_2873insA p.T959fs*9 Insertion - Frameshift Skin COSM6004416 EYA2 c.662-5G>A p.? Unknown Prostate COSM5392895 BRWD1 c.838C>T p.P280S Substitution - Missense Skin COSM4002744 PBRM1 c.4335A>G p.P1445P Substitution - coding silent Soft_tissue COSM4918266 SETD8 c.542T>G p.L181R Substitution - Missense Liver COSM1734337 KIAA1045 c.883C>T p.R295W Substitution - Missense Pancreas COSM3642806 TRRAP c.6834C>T p.S2278S Substitution - coding silent Skin COSM1609129 GTF3C1 c.3090A>G p.S1030S Substitution - coding silent Liver COSM939503 ARID2 c.2220G>C p.Q740H Substitution - Missense Endometrium COSM1159417 NIPBL c.790A>G p.M264V Substitution - Missense Pancreas COSM3362722 BRD4 c.1596G>A p.Q532Q Substitution - coding silent Kidney COSM4937503 SMC1A c.3257A>T p.K1086M Substitution - Missense Liver COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Oesophagus COSM462937 POGZ c.2149C>A p.P717T Substitution - Missense Kidney COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Skin COSM1333449 PRDM2 c.852T>A p.D284E Substitution - Missense Kidney COSM979865 HDAC5 c.1686C>A p.V562V Substitution - coding silent Endometrium COSM165982 ARID1B c.5632delC p.Q1879fs*77 Deletion - Frameshift Breast COSM720954 HDAC4 c.2837A>G p.Y946C Substitution - Missense Lung COSM5963277 KMT2C c.11871G>A p.L3957L Substitution - coding silent Breast COSM4431015 HDAC9 c.2170G>T p.D724Y Substitution - Missense Oesophagus COSM2270966 TET2 c.5720T>A p.M1907K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM250048 ATRX c.1660_1661delCA p.Q554fs*21 Deletion - Frameshift Central_nervous_system COSM5683241 PHF21B c.960+3G>T p.? Unknown Soft_tissue COSM1375552 CHD2 c.3725delA p.K1245fs*4 Deletion - Frameshift Stomach COSM5702530 BAP1 c.506_506delA p.H169fs*18 Deletion - Frameshift Eye COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4892661 SMEK2 c.2071T>A p.F691I Substitution - Missense Skin COSM1581520 PRDM16 c.553A>G p.M185V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4611398 ZMYM2 c.3124delA p.K1044fs*33 Deletion - Frameshift Large_intestine COSM4449952 KDM5D c.4069+1G>A p.? Unknown Skin COSM3787507 CXXC1 c.1071A>G p.K357K Substitution - coding silent Pancreas COSM1469185 ZMYM3 c.252delG p.L85fs*28 Deletion - Frameshift Large_intestine COSM3742938 SIRT2 c.454A>G p.M152V Substitution - Missense Liver COSM1412255 NCOA3 c.3611C>T p.A1204V Substitution - Missense Large_intestine COSM2968010 KDM5C c.819G>T p.V273V Substitution - coding silent Large_intestine COSM4674644 CREBBP c.6132C>A p.A2044A Substitution - coding silent Large_intestine COSM1627436 BMI1 c.844C>T p.P282S Substitution - Missense Liver COSM5478867 MGA c.8373C>A p.F2791L Substitution - Missense Large_intestine COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM34191 ASXL1 c.? p.S1457fs*18 Frameshift Haematopoietic_and_lymphoid_tissue COSM422778 PBRM1 c.1814C>T p.S605F Substitution - Missense Skin COSM1605259 RSF1 c.2334T>G p.S778S Substitution - coding silent Liver COSM323318 SHPRH c.1394A>G p.Y465C Substitution - Missense Lung COSM166410 CREBBP c.1744_1745CC>TTT p.P582fs*4 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM3870941 KDM2B c.2527+2T>G p.? Unknown Skin COSM752840 PHF19 c.1130G>T p.G377V Substitution - Missense Lung COSM912511 RERE c.3934C>T p.R1312W Substitution - Missense Endometrium COSM4767388 IDH1 c.? p.K3fs*? Deletion - Frameshift Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM318772 ARID2 c.220G>T p.E74* Substitution - Nonsense Liver COSM1073638 SIRT5 c.356G>A p.R119H Substitution - Missense Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4949782 BAZ2A c.5161G>T p.G1721C Substitution - Missense Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1205368 EP300 c.2921A>G p.Q974R Substitution - Missense Large_intestine COSM5878815 DNMT3A c.1688_1689delTG p.V563fs*14 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1266218 SMARCA2 c.669G>A p.Q223Q Substitution - coding silent Prostate COSM5805448 ZMYND8 c.2443A>T p.T815S Substitution - Missense Liver COSM4887745 SIRT4 c.572C>A p.T191N Substitution - Missense Upper_aerodigestive_tract COSM5004309 DNMT1 c.245T>C p.V82A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3408202 RUVBL1 c.1097A>G p.Y366C Substitution - Missense Central_nervous_system COSM1310549 PHF15 c.2211G>A p.E737E Substitution - coding silent Urinary_tract COSM5971737 GTF3C1 c.4729C>T p.L1577L Substitution - coding silent Upper_aerodigestive_tract COSM5690203 BAZ1A c.4081A>T p.R1361W Substitution - Missense Soft_tissue COSM5977696 KDM5A c.2242G>A p.E748K Substitution - Missense Central_nervous_system COSM1416475 EP300 c.3416A>G p.Y1139C Substitution - Missense Large_intestine COSM5451305 PRDM16 c.1262C>T p.T421M Substitution - Missense Large_intestine COSM4383795 TET2 c.1261G>T p.E421* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4383917 TET2 c.3755delT p.L1252fs*14 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5600274 PRDM15 c.2619C>T p.R873R Substitution - coding silent Skin COSM4956144 PHF20 c.1466C>T p.P489L Substitution - Missense Liver COSM5576312 ARID1A c.5331_5332delAG p.E1778fs*5 Deletion - Frameshift Stomach COSM5910637 BRD3 c.173C>T p.P58L Substitution - Missense Skin COSM468658 SMARCC2 c.1605T>C p.A535A Substitution - coding silent Kidney COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1167850 PHIP c.1928_1929insT p.D644fs*18 Insertion - Frameshift Skin COSM4146853 EP400 c.6646A>C p.T2216P Substitution - Missense Upper_aerodigestive_tract COSM308448 PBRM1 c.1942delT p.S648fs*8 Deletion - Frameshift Kidney COSM4832816 ASXL1 c.2612C>G p.S871* Substitution - Nonsense Cervix COSM2051940 SMYD3 c.666A>G p.Q222Q Substitution - coding silent Large_intestine COSM3203615 MECOM c.1530A>G p.P510P Substitution - coding silent Upper_aerodigestive_tract COSM166619 KAT2B c.1368G>A p.E456E Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4436973 MTA2 c.718delA p.R240fs*41 Deletion - Frameshift Oesophagus COSM1021289 MSH6 c.2927G>A p.R976H Substitution - Missense Endometrium COSM5357520 TDRD6 c.5621C>T p.P1874L Substitution - Missense Large_intestine COSM1018324 TET2 c.3811T>G p.C1271G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM367831 FMR1 c.763C>A p.L255I Substitution - Missense Lung COSM703037 CREBBP c.5300C>T p.S1767L Substitution - Missense Lung COSM3508913 SRCAP c.6115C>T p.Q2039* Substitution - Nonsense Skin COSM3597965 SETD5_ENST00000402198 c.1205G>T p.C402F Substitution - Missense Skin COSM990427 DNMT1 c.4766G>A p.G1589D Substitution - Missense Endometrium COSM5826522 PHF2 c.2955_2956ins15 p.T996_S997insTPAST Insertion - In frame Large_intestine COSM2719979 CHD7 c.884G>A p.R295Q Substitution - Missense Large_intestine COSM5946075 KMT2D c.?_?del? p.?fs*? Deletion - Frameshift Urinary_tract COSM1359417 HNF1A c.865delC p.P291fs*51 Deletion - Frameshift Large_intestine COSM1037967 RUVBL1 c.697G>T p.E233* Substitution - Nonsense Endometrium COSM4423841 PRMT3 c.1071G>T p.S357S Substitution - coding silent Prostate COSM4411435 CBX7 c.214_216AGA>G p.R72fs*43 Complex - frameshift Kidney COSM1017580 SP110 c.2101T>G p.F701V Substitution - Missense Endometrium COSM5826522 PHF2 c.2955_2956ins15 p.T996_S997insTPAST Insertion - In frame Large_intestine COSM1367540 TDRD3 c.49G>T p.E17* Substitution - Nonsense Large_intestine COSM4398794 ACTR8 c.1742C>T p.P581L Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM947867 SETDB2 c.644A>C p.N215T Substitution - Missense Endometrium COSM5952470 BAP1 c.1421C>T p.P474L Substitution - Missense Oesophagus COSM4114058 ZBTB38 c.2981G>A p.G994E Substitution - Missense Stomach COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5364689 SMARCA4 c.995delC p.Q335fs*76 Deletion - Frameshift Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1211761 KDM5A c.1406C>A p.P469Q Substitution - Missense Large_intestine COSM4746834 ARID1A c.6540_6550del11 p.A2181fs*40 Deletion - Frameshift Stomach COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2053979 TDRD1 c.2986G>A p.A996T Substitution - Missense Large_intestine COSM5434221 NCOA2 c.1655T>C p.L552S Substitution - Missense Oesophagus COSM753641 TAF1L c.3869G>T p.G1290V Substitution - Missense Lung COSM1387372 CHD3 c.4183C>A p.P1395T Substitution - Missense Large_intestine COSM3457106 HNF1A c.875G>A p.G292E Substitution - Missense Skin COSM133050 EZH2 c.434T>C p.F145S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1709090 SETD1A c.5080C>T p.P1694S Substitution - Missense Skin COSM1124880 TAF1 c.1918C>A p.L640I Substitution - Missense Endometrium COSM100051 PRDM1 c.1_2370del2370 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM4770283 SMARCA5 c.599A>G p.N200S Substitution - Missense Adrenal_gland COSM1480651 MUM1 c.1115A>G p.E372G Substitution - Missense Breast COSM300748 CHD9 c.3669C>T p.Y1223Y Substitution - coding silent Large_intestine COSM1190650 HCFC1 c.116T>C p.L39P Substitution - Missense Lung COSM3733336 KMT2C c.2263C>T p.Q755* Substitution - Nonsense Skin COSM1755585 CHRAC1 c.226G>A p.D76N Substitution - Missense Urinary_tract COSM4402186 EZH2 c.1078A>G p.R360G Substitution - Missense Skin COSM6005414 PHF6 c.210C>T p.V70V Substitution - coding silent Prostate COSM4903704 TAF3 c.388C>T p.P130S Substitution - Missense Skin COSM1457744 CHD7 c.7372T>G p.F2458V Substitution - Missense Large_intestine COSM4416798 TDRD5 c.1072A>G p.K358E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1462640 KIAA2026_ENST00000399933 c.5110C>T p.L1704F Substitution - Missense Large_intestine COSM3697622 JARID2 c.2947G>A p.V983I Substitution - Missense Large_intestine COSM464992 RERE c.2958A>C p.P986P Substitution - coding silent Thyroid COSM1734872 PHF8 c.2306C>A p.P769H Substitution - Missense Pancreas COSM5571625 DNMT1 c.1670T>C p.V557A Substitution - Missense Prostate COSM443342 SMYD1 c.552C>T p.L184L Substitution - coding silent Breast COSM993 SMARCB1 c.601C>T p.R201* Substitution - Nonsense Central_nervous_system COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4092252 SP140_ENST00000392045 c.628G>A p.A210T Substitution - Missense Stomach COSM5005567 SMARCA1 c.811-2A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1045495 SETD2 c.1042G>T p.E348* Substitution - Nonsense Endometrium COSM3563134 TAF1 c.861C>T p.S287S Substitution - coding silent Skin COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM4385538 KMT2C c.9347T>C p.L3116P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4544374 KMT2D c.2740G>A p.E914K Substitution - Missense Skin COSM940038 KMT2D c.7236+1G>A p.? Unknown Endometrium COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM3304668 KMT2C c.918T>G p.Y306* Substitution - Nonsense Breast COSM1117753 HCFC1 c.2060C>T p.T687M Substitution - Missense Liver COSM1177162 RUVBL1 c.634G>T p.E212* Substitution - Nonsense Breast COSM321080 JHDM1D c.1930C>A p.R644S Substitution - Missense Large_intestine COSM920533 KAT6B c.4121G>A p.G1374E Substitution - Missense Endometrium COSM231563 DNMT3A c.2311C>T p.R771* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4805633 SMARCD1 c.313T>G p.S105A Substitution - Missense Liver COSM4110052 KDM5C c.2262T>C p.D754D Substitution - coding silent Stomach COSM1630064 NCOR1 c.6029A>G p.Y2010C Substitution - Missense Liver COSM4988918 SETD2 c.851A>C p.K284T Substitution - Missense Soft_tissue COSM3682160 ZMYM3 c.258C>T p.L86L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5835118 SHPRH c.2473_2474insG p.E825fs*18 Insertion - Frameshift Breast COSM5546820 CHD1 c.777_778delTG p.C259fs*8 Deletion - Frameshift Prostate COSM218404 ARID2 c.940C>A p.R314S Substitution - Missense Pancreas COSM4592007 RAI1 c.841_843delCAG p.Q291delQ Deletion - In frame Upper_aerodigestive_tract COSM1461998 TAF1L c.4614G>T p.M1538I Substitution - Missense Large_intestine COSM4075099 MBD3 c.622C>T p.L208F Substitution - Missense Stomach COSM3661429 KDM3B c.976G>A p.G326R Substitution - Missense Liver COSM4832255 CHD8 c.593G>A p.G198E Substitution - Missense Cervix COSM543726 GLYATL1 c.656G>A p.R219Q Substitution - Missense Large_intestine COSM289690 GTF3C1 c.5488G>T p.E1830* Substitution - Nonsense Large_intestine COSM1638323 ATAD2 c.1336T>C p.L446L Substitution - coding silent Bone COSM4590050 PRDM10 c.1332A>C p.E444D Substitution - Missense Upper_aerodigestive_tract COSM4385131 ASXL1 c.3569G>A p.R1190K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5606488 DOT1L c.4392C>T p.F1464F Substitution - coding silent Skin COSM5454217 HDAC1 c.494+2T>C p.? Unknown Large_intestine COSM3103070 DOT1L c.204C>T p.F68F Substitution - coding silent Large_intestine COSM2042552 SUV420H1 c.1011A>G p.G337G Substitution - coding silent Large_intestine COSM4756521 PHF3 c.4465G>A p.E1489K Substitution - Missense Stomach COSM1220363 PHF20 c.389A>G p.H130R Substitution - Missense Large_intestine COSM5944522 TET2 c.5541_5542insG p.S1848fs*11 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1086204 JHDM1D c.1543C>T p.R515* Substitution - Nonsense Kidney COSM4884502 KDM6A c.2212C>T p.P738S Substitution - Missense Upper_aerodigestive_tract COSM4575110 KDM2B c.2412G>A p.S804S Substitution - coding silent Bone COSM1294868 PRDM2 c.403G>A p.E135K Substitution - Missense Urinary_tract COSM162773 KAT6B c.5041G>A p.E1681K Substitution - Missense Breast COSM927030 PRDM11 c.1348C>T p.R450C Substitution - Missense Skin COSM5139641 KMT2D c.12168delC p.S4057fs*57 Deletion - Frameshift Large_intestine COSM1716729 ATRX c.6565G>C p.V2189L Substitution - Missense Central_nervous_system COSM1626485 ASH1L c.4624C>T p.H1542Y Substitution - Missense Liver COSM3373579 PRDM8 c.1600C>T p.P534S Substitution - Missense Thyroid COSM1080950 PHF3 c.1518G>A p.P506P Substitution - coding silent Endometrium COSM3777167 SHPRH c.3832G>A p.E1278K Substitution - Missense Urinary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3370481 SETD6 c.117+3G>A p.? Unknown Thyroid COSM4634547 PCNA c.776A>G p.E259G Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5980496 SETDB2 c.1280_1281insA p.R430fs*11 Insertion - Frameshift Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4823821 NSD1 c.596C>T p.S199L Substitution - Missense Cervix COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3384418 KMT2D c.1954C>T p.R652C Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5471693 FXR1 c.1249G>A p.D417N Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM351876 TAF1L c.4104G>A p.Q1368Q Substitution - coding silent Lung COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3528094 DNMT1 c.4021C>T p.L1341L Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM757218 PHF16 c.1574C>A p.T525K Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4029673 KDM1A c.1896C>T p.R632R Substitution - coding silent Stomach COSM4573347 TDRD1 c.2051C>A p.P684H Substitution - Missense Bone COSM465512 TRDMT1 c.769C>G p.L257V Substitution - Missense Kidney COSM1159091 ATF7IP c.2418G>A p.V806V Substitution - coding silent Pancreas COSM3496558 ARID4A c.445C>T p.P149S Substitution - Missense Skin COSM5012643 ZMYM2 c.1381G>T p.G461C Substitution - Missense Kidney COSM211761 MEN1 c.207_220del14 p.D70fs*42 Deletion - Frameshift Parathyroid COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM319395 CDYL c.179C>G p.A60G Substitution - Missense Lung COSM2961646 MYST3 c.5877G>A p.G1959G Substitution - coding silent Upper_aerodigestive_tract COSM1317562 KDM1A c.1995A>G p.P665P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4790998 WHSC1 c.2377C>T p.H793Y Substitution - Missense Liver COSM5494144 SETD4 c.773C>T p.T258M Substitution - Missense Biliary_tract COSM43512 TET2 c.2535_2536insT p.E846fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4644445 MSH6 c.2548T>C p.Y850H Substitution - Missense Large_intestine COSM307363 TET2 c.3058C>T p.Q1020* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM247316 SHPRH c.4054C>T p.R1352C Substitution - Missense Prostate COSM1671894 BRD8 c.445A>C p.K149Q Substitution - Missense Large_intestine COSM3926602 SMARCA2 c.3360C>T p.F1120F Substitution - coding silent Skin COSM120032 BRD9 c.1309G>T p.D437Y Substitution - Missense Ovary COSM1080949 PHF3 c.1238G>T p.S413I Substitution - Missense Endometrium COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1002 SMARCB1 c.118C>T p.R40* Substitution - Nonsense Central_nervous_system COSM23054 MEN1 c.512G>A p.R171Q Substitution - Missense Prostate COSM22058 NCOA2 c.1316G>A p.G439D Substitution - Missense Skin COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43420 TET2 c.4546C>T p.R1516* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM43420 TET2 c.4546C>T p.R1516* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM43499 TET2 c.5693C>T p.S1898F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85917 TET2 c.2227C>T p.Q743* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM107494 TRRAP c.2165C>T p.S722F Substitution - Missense Skin COSM146277 RAI1 c.840delG p.Q280fs*84 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM144609 KMT2D c.6418C>T p.R2140* Substitution - Nonsense Urinary_tract COSM140049 YY1 c.1082G>A p.G361E Substitution - Missense Skin COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Soft_tissue COSM215996 EYA4 c.1643C>T p.T548M Substitution - Missense Large_intestine COSM243156 BAHCC1 c.1627C>T p.R543C Substitution - Missense Prostate COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Kidney COSM269705 NCOA6 c.5593A>G p.M1865V Substitution - Missense Large_intestine COSM277800 TIF1 c.376C>T p.R126C Substitution - Missense Skin COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Large_intestine COSM307568 SRCAP c.5548A>T p.T1850S Substitution - Missense Kidney COSM326779 TRRAP c.3070G>T p.G1024C Substitution - Missense Lung COSM358473 PHRF1 c.1424C>A p.A475D Substitution - Missense Lung COSM378134 KMT2A c.1200G>C p.K400N Substitution - Missense Lung COSM380380 SETD3 c.78G>A p.L26L Substitution - coding silent Lung COSM421281 TDRD6 c.2755G>T p.E919* Substitution - Nonsense Urinary_tract COSM426321 KDM4A c.1276G>A p.E426K Substitution - Missense Breast COSM455883 KIAA1045 c.1050_1052delCAG p.S354delS Deletion - In frame Breast COSM464440 HDAC1 c.258G>C p.E86D Substitution - Missense Kidney COSM464487 ZMYM1 c.2402A>C p.K801T Substitution - Missense Kidney COSM1049743 TET2 c.427G>T p.D143Y Substitution - Missense Endometrium COSM953997 MTA1 c.34G>A p.V12I Substitution - Missense Large_intestine COSM1026840 CHD6 c.7864A>G p.I2622V Substitution - Missense Endometrium COSM4385788 TRRAP c.1291C>T p.R431C Substitution - Missense Thyroid COSM747169 BAZ1B c.819C>T p.V273V Substitution - coding silent Skin COSM894171 TRIM33 c.3099G>T p.K1033N Substitution - Missense Endometrium COSM1045693 DHX30 c.2403G>T p.E801D Substitution - Missense Endometrium COSM1066278 NSD1 c.5423A>G p.H1808R Substitution - Missense Endometrium COSM1088615 STK31 c.463G>T p.E155* Substitution - Nonsense Endometrium COSM1239176 JARID2 c.2719G>A p.G907S Substitution - Missense Oesophagus COSM1162478 CREBBP c.1491G>A p.Q497Q Substitution - coding silent Pancreas COSM1162748 BRD9 c.928A>T p.M310L Substitution - Missense Central_nervous_system COSM1211765 KDM5A c.4773A>C p.K1591N Substitution - Missense Large_intestine COSM1191073 INOC1 c.3899_3900insT p.K1300fs*14 Insertion - Frameshift Lung COSM1323214 MGA c.5067C>T p.V1689V Substitution - coding silent Ovary COSM1424598 SFMBT1 c.1843G>A p.G615S Substitution - Missense Large_intestine COSM1448360 TIF1 c.1171C>T p.R391C Substitution - Missense Skin COSM1436275 NSD1 c.5139C>T p.C1713C Substitution - coding silent Large_intestine COSM1461543 PSIP1 c.485C>T p.A162V Substitution - Missense Large_intestine COSM1494194 GATAD2A c.217G>A p.G73S Substitution - Missense Large_intestine COSM1616549 PHF21B c.264G>A p.R88R Substitution - coding silent Liver COSM1624934 KIAA1045 c.972T>A p.F324L Substitution - Missense Liver COSM1577237 MEN1 c.783+1G>T p.? Unknown Parathyroid COSM1684568 SMARCA4 c.3157delC p.Q1053fs*53 Deletion - Frameshift Skin COSM1671891 BRD8 c.3194C>T p.P1065L Substitution - Missense Large_intestine COSM1642693 NSD1 c.5887delA p.K1964fs*5 Deletion - Frameshift Stomach COSM1723869 BRWD3 c.820C>T p.P274S Substitution - Missense Skin COSM1741095 ZBTB33 c.581_582insCTG p.D194_V195insC Insertion - In frame Haematopoietic_and_lymphoid_tissue COSM2154706 PCGF6 c.553A>G p.I185V Substitution - Missense Central_nervous_system COSM3142443 PRDM13 c.1989C>T p.G663G Substitution - coding silent Thyroid COSM3357357 HDAC10 c.1546C>A p.R516R Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3396082 BAZ2A_ENST00000379441 c.4578G>T p.Q1526H Substitution - Missense Prostate COSM3501436 TP53BP1 c.471C>T p.S157S Substitution - coding silent Skin COSM3488221 PRDM16 c.1559C>T p.P520L Substitution - Missense Skin COSM3458524 ATF7IP c.630C>T p.I210I Substitution - coding silent Skin COSM3460988 ARID2 c.5431C>T p.L1811F Substitution - Missense Skin COSM3457180 KDM2B c.1767G>A p.L589L Substitution - coding silent Skin COSM3636511 KMT2C c.5005C>T p.P1669S Substitution - Missense Skin COSM3525446 ASXL3 c.1959C>T p.S653S Substitution - coding silent Skin COSM3741918 CREBBP c.7082C>T p.S2361F Substitution - Missense Liver COSM3774731 ACTL6A c.370G>C p.E124Q Substitution - Missense Urinary_tract COSM3780993 KMT2D c.4510-2A>G p.? Unknown Pancreas COSM3808485 KMT2A c.6441A>C p.T2147T Substitution - coding silent Breast COSM3928190 ARID1B c.2202T>A p.Y734* Substitution - Nonsense Central_nervous_system COSM3874522 TDRD6 c.1999A>G p.K667E Substitution - Missense Stomach COSM3947482 NIPBL c.2097G>A p.R699R Substitution - coding silent Lung COSM3952618 SMARCA2 c.3666G>A p.E1222E Substitution - coding silent Lung COSM4115543 FXR1 c.1586T>C p.V529A Substitution - Missense Stomach COSM4075118 MBD3 c.50G>T p.R17M Substitution - Missense Stomach COSM4129608 NCOR1 c.571G>A p.E191K Substitution - Missense Upper_aerodigestive_tract COSM4145728 PHF21A c.975C>A p.S325R Substitution - Missense Upper_aerodigestive_tract COSM4383925 TET2 c.3873G>T p.W1291C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4385265 EP300 c.6796_6798delCAG p.Q2268delQ Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM4605745 ARID1A c.6646C>T p.L2216F Substitution - Missense Upper_aerodigestive_tract COSM4593385 ARID2 c.4663G>T p.A1555S Substitution - Missense Upper_aerodigestive_tract COSM4513909 KMT2D c.8741C>T p.S2914F Substitution - Missense Skin COSM4519082 MUM1 c.956_957CC>TT p.P319L Substitution - Missense Skin COSM4538012 TRIM33 c.2493G>A p.L831L Substitution - coding silent Skin COSM4528513 MECOM c.977G>A p.G326E Substitution - Missense Skin COSM4457771 KDM4B c.1059C>T p.P353P Substitution - coding silent Skin COSM4445381 ARID1B c.2979C>T p.V993V Substitution - coding silent Skin COSM4467464 PHF12 c.1490C>T p.P497L Substitution - Missense Skin COSM4473010 PHC2 c.1820C>T p.P607L Substitution - Missense Skin COSM4717517 PRDM7 c.483C>T p.P161P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4689707 HDAC7 c.1098C>T p.T366T Substitution - coding silent Large_intestine COSM4649598 RERE c.696C>T p.Y232Y Substitution - coding silent Large_intestine COSM4635413 TDRD6 c.255C>T p.R85R Substitution - coding silent Large_intestine COSM4775090 KMT2D c.5819C>T p.P1940L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4755913 BAZ2A c.3674G>A p.R1225Q Substitution - Missense Skin COSM4802623 CHD7 c.3539C>T p.A1180V Substitution - Missense Liver COSM4940015 CREBBP c.973A>T p.M325L Substitution - Missense Liver COSM4827619 KIAA2026_ENST00000399933 c.776G>C p.R259T Substitution - Missense Cervix COSM4949633 ARID1A c.732_744del13 p.A245fs*114 Deletion - Frameshift Liver COSM5404530 SHPRH c.669A>G p.K223K Substitution - coding silent Skin COSM5519143 KMT2D c.12750G>A p.P4250P Substitution - coding silent Biliary_tract COSM5422230 MGA c.3869T>G p.L1290* Substitution - Nonsense Prostate COSM5419899 SMARCA5 c.1608T>G p.D536E Substitution - Missense Pancreas COSM5724968 ARID2 c.4795C>T p.P1599S Substitution - Missense Skin COSM5746760 TRRAP c.2222A>G p.N741S Substitution - Missense Pancreas COSM5740892 RAI1 c.238C>T p.R80* Substitution - Nonsense Small_intestine COSM5591486 KDM3B c.3754C>T p.H1252Y Substitution - Missense Skin COSM5668634 HCFC1 c.3820G>T p.V1274F Substitution - Missense Soft_tissue COSM5563628 PRMT8 c.104A>C p.Q35P Substitution - Missense Prostate COSM5782595 INO80B c.620C>T p.A207V Substitution - Missense Breast COSM5826234 ACTR8 c.779-3delC p.? Unknown Large_intestine COSM5878864 DNMT3A c.926G>T p.R309L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5838536 PRDM11 c.379C>T p.P127S Substitution - Missense Skin COSM5894190 ZMYM3 c.1735C>T p.Q579* Substitution - Nonsense Skin COSM5985233 NSD1 c.4899C>A p.F1633L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM42081 TET2 c.3487_3487delA p.I1163fs*63 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM51384 IDH1 c.? p.R132L Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1685350 EZH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53158 TET2 c.? p.H1904R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1197415 DPF1 c.404A>T p.E135V Substitution - Missense Lung COSM4883436 PRDM2 c.265G>C p.D89H Substitution - Missense Upper_aerodigestive_tract COSM3777990 MLL5 c.1705G>A p.E569K Substitution - Missense Urinary_tract COSM212074 EYA1 c.175G>A p.G59R Substitution - Missense Breast COSM5365564 DOT1L c.200+2T>C p.? Unknown Large_intestine COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM3639801 ACTB c.516C>T p.P172P Substitution - coding silent Skin COSM261996 MGA c.7459G>T p.E2487* Substitution - Nonsense Large_intestine COSM5436886 HDAC6 c.1633G>A p.V545M Substitution - Missense Oesophagus COSM1293704 SMCHD1 c.448G>C p.E150Q Substitution - Missense Cervix COSM1296333 ZMYM6 c.1110G>A p.L370L Substitution - coding silent Urinary_tract COSM4990275 KMT2D c.1033C>G p.L345V Substitution - Missense Skin COSM4955959 PHF20L1 c.770-2A>G p.? Unknown Liver COSM987887 ASXL3 c.73G>T p.G25W Substitution - Missense Endometrium COSM135923 CBX7 c.586C>T p.P196S Substitution - Missense Skin COSM1221415 POGZ c.1120C>T p.R374W Substitution - Missense Stomach COSM5400255 TET2 c.1220C>T p.S407F Substitution - Missense Skin COSM5017388 ASH1L c.8684_8685insA p.E2896fs*4 Insertion - Frameshift Soft_tissue COSM5691733 PRDM16 c.2243A>G p.N748S Substitution - Missense Soft_tissue COSM211643 TET2 c.3782G>A p.R1261H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1061239 BRD8 c.2308G>A p.A770T Substitution - Missense Endometrium COSM3807734 KAT6B c.3961C>G p.Q1321E Substitution - Missense Breast COSM4008568 RAD54L c.1094G>A p.R365Q Substitution - Missense Stomach COSM5750035 BAZ2A_ENST00000379441 c.4171C>A p.P1391T Substitution - Missense Stomach COSM6009040 PRDM16 c.3339G>A p.E1113E Substitution - coding silent Skin COSM4410659 MYST2 c.326A>G p.D109G Substitution - Missense Kidney COSM5468874 EPC1 c.1741T>G p.F581V Substitution - Missense Large_intestine COSM5452836 MGA c.4804A>T p.I1602L Substitution - Missense Large_intestine COSM3514778 RAI1 c.4701C>T p.P1567P Substitution - coding silent Skin COSM4110124 SMC1A c.2561A>G p.K854R Substitution - Missense Stomach COSM4139829 ZBTB4 c.239C>T p.T80I Substitution - Missense Ovary COSM4630012 PRDM16 c.3221C>T p.S1074L Substitution - Missense Large_intestine COSM3618962 CHD1 c.1591G>T p.G531* Substitution - Nonsense Skin COSM218914 KMT2C c.3683C>A p.S1228* Substitution - Nonsense Pancreas COSM3672610 CBX4 c.342G>A p.K114K Substitution - coding silent Prostate COSM2808504 AP001011.3_ENST00000320876 c.1000T>C p.Y334H Substitution - Missense Large_intestine COSM132972 ASXL1 c.? p.E865* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1614882 MSH6 c.876C>G p.S292R Substitution - Missense Liver COSM5476222 BRWD1 c.2481+8G>A p.? Unknown Large_intestine COSM5461005 CDYL2 c.857C>T p.A286V Substitution - Missense Large_intestine COSM1049103 MINA c.379G>T p.D127Y Substitution - Missense Endometrium COSM4162008 KMT2C c.2578C>T p.P860S Substitution - Missense Thyroid COSM3608975 KDM3B c.1874C>T p.P625L Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM4877295 MBD1 c.1508C>T p.A503V Substitution - Missense Large_intestine COSM480397 PBRM1 c.1757T>A p.M586K Substitution - Missense Kidney COSM3674187 GABRG1 c.1231G>T p.D411Y Substitution - Missense Prostate COSM3681274 PRDM15 c.526C>T p.P176S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1370224 ARID4A c.42C>T p.T14T Substitution - coding silent Large_intestine COSM3402359 CHD9 c.5857C>T p.P1953S Substitution - Missense Central_nervous_system COSM96362 BAP1 c.188C>G p.S63C Substitution - Missense Pleura COSM2150871 TDRD7 c.2723C>G p.S908* Substitution - Nonsense Central_nervous_system COSM4619491 SUV420H2 c.1115C>T p.A372V Substitution - Missense Large_intestine COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM244037 DIDO1 c.1105A>G p.R369G Substitution - Missense Prostate COSM41294 IDH1 c.? p.R132C Substitution - Missense Soft_tissue COSM1738265 SETMAR c.677G>C p.C226S Substitution - Missense Ovary COSM5937510 RAG2 c.280C>T p.H94Y Substitution - Missense Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM1087542 KMT2C c.10899G>A p.P3633P Substitution - coding silent Endometrium COSM241209 POGZ c.65G>A p.S22N Substitution - Missense Prostate COSM2270988 EZH2 c.2175_2175delA p.E726fs*14 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4580206 CHD3 c.1869T>G p.R623R Substitution - coding silent Bone COSM1610659 BPTF c.3062A>G p.D1021G Substitution - Missense Liver COSM4689518 HAT1 c.177C>A p.L59L Substitution - coding silent Large_intestine COSM41294 IDH1 c.? p.R132C Substitution - Missense Biliary_tract COSM1377034 GTF3C1 c.1092C>T p.F364F Substitution - coding silent Large_intestine COSM4119367 ACTR8 c.1759A>T p.K587* Substitution - Nonsense Stomach COSM1315519 KDM6A c.3579G>A p.W1193* Substitution - Nonsense Large_intestine COSM1239207 KDM2A c.267G>A p.P89P Substitution - coding silent Oesophagus COSM284930 SFMBT1 c.979G>A p.A327T Substitution - Missense Large_intestine COSM4680486 EHMT1 c.1722C>T p.P574P Substitution - coding silent Large_intestine COSM4385551 DNMT1 c.4753G>A p.A1585T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM132982 ASXL1 c.? p.C789fs*29 Frameshift Haematopoietic_and_lymphoid_tissue COSM4036087 SUV420H1 c.643A>G p.T215A Substitution - Missense Stomach COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM33634 SP110 c.2119G>A p.G707S Substitution - Missense Breast COSM3375005 TDRD7 c.2576C>T p.S859F Substitution - Missense Thyroid COSM5438422 RAI1 c.3826C>A p.P1276T Substitution - Missense Oesophagus COSM3069007 SETD2 c.3206+1G>A p.? Unknown Kidney COSM5751416 MSH6 c.2377_2387del11 p.D793fs*7 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4109602 PHF16 c.2468G>T p.R823M Substitution - Missense Stomach COSM1606147 ARID2 c.4878delA p.K1627fs*74 Deletion - Frameshift Liver COSM5986692 SETD2 c.6007_6017del11 p.K2003fs*10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3909802 SP140_ENST00000392045 c.606C>T p.L202L Substitution - coding silent Skin COSM961207 BAHD1 c.932G>A p.R311H Substitution - Missense Endometrium COSM144608 KMT2D c.4897C>T p.R1633* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM431209 KMT2D c.9576C>T p.L3192L Substitution - coding silent Breast COSM1416478 EP300 c.3831G>T p.K1277N Substitution - Missense Large_intestine COSM5783589 MGA c.2950C>A p.R984S Substitution - Missense Breast COSM1641364 ZMYND8 c.1964delA p.K655fs*14 Deletion - Frameshift Biliary_tract COSM3750243 TRIM33 c.1146A>G p.Q382Q Substitution - coding silent Soft_tissue COSM4596479 BAHCC1 c.5240A>C p.N1747T Substitution - Missense Upper_aerodigestive_tract COSM4817289 LBR c.979C>G p.L327V Substitution - Missense Cervix COSM1618419 SETD7 c.142C>T p.R48W Substitution - Missense Liver COSM1348581 JMJD1C c.5224C>A p.P1742T Substitution - Missense Large_intestine COSM5715681 PHF21B c.1213G>A p.E405K Substitution - Missense Skin COSM3358453 SETD2 c.5351_5352insAT p.P1785fs*22 Insertion - Frameshift Kidney COSM5345436 TRRAP c.10534C>T p.R3512* Substitution - Nonsense Large_intestine COSM3523582 BAHCC1 c.1450C>T p.P484S Substitution - Missense Skin COSM4412499 MGA c.4414A>T p.S1472C Substitution - Missense Oesophagus COSM255965 CREBBP c.1447C>T p.R483* Substitution - Nonsense Upper_aerodigestive_tract COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96929 TET2 c.3088_3088delC p.Q1030fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Bone COSM289608 SP140_ENST00000392045 c.816G>A p.E272E Substitution - coding silent Large_intestine COSM6005518 EP300 c.637G>A p.G213R Substitution - Missense Prostate COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Central_nervous_system COSM4141792 NIPBL c.6450A>G p.L2150L Substitution - coding silent Ovary COSM3517614 KAT2A c.2001C>T p.I667I Substitution - coding silent Skin COSM3757070 KDM4B c.1080A>G p.A360A Substitution - coding silent Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM971411 CHD9 c.1164G>T p.E388D Substitution - Missense Endometrium COSM3703766 KDM4D c.1560C>T p.A520A Substitution - coding silent Liver COSM5910763 PRDM11 c.947C>T p.P316L Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4797324 TRRAP c.2008-1G>A p.? Unknown Liver COSM4520903 EYA2 c.1082G>A p.G361E Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5816018 PRDM5 c.628G>A p.V210I Substitution - Missense Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2153625 PRDM12 c.73G>A p.A25T Substitution - Missense Central_nervous_system COSM1690770 SMYD1 c.1022C>T p.P341L Substitution - Missense Skin COSM4169533 TET2 c.? p.H682fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM488148 HCFC1 c.260C>G p.A87G Substitution - Missense Kidney COSM744134 PHF14 c.2030G>A p.S677N Substitution - Missense Lung COSM3107997 UHRF1 c.395G>A p.S132N Substitution - Missense Large_intestine COSM1180386 ASXL1 c.4568G>C p.C1523S Substitution - Missense Prostate COSM41293 IDH1 c.? p.R132S Substitution - Missense Bone COSM211020 PHF6 c.871G>T p.G291* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1624853 SMARCA2 c.3485G>T p.R1162L Substitution - Missense Liver COSM4694963 KDM4B c.496G>A p.G166S Substitution - Missense Large_intestine COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM5725276 BRWD3 c.3635A>G p.Y1212C Substitution - Missense Skin COSM4917450 NSD1 c.7867A>C p.S2623R Substitution - Missense Liver COSM1125085 HDAC8 c.667C>T p.R223W Substitution - Missense Endometrium COSM5095369 KDM2A c.3225C>A p.S1075R Substitution - Missense Thymus COSM1583075 DNMT3A c.1581G>C p.Q527H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4426094 NCOA5 c.961A>G p.I321V Substitution - Missense Oesophagus COSM5775848 KMT2C c.1193G>A p.G398E Substitution - Missense Breast COSM52838 PBRM1 c.3553C>T p.R1185* Substitution - Nonsense Endometrium COSM53043 IDH1 c.297A>G p.I99M Substitution - Missense Biliary_tract COSM4120729 BRPF1 c.915C>T p.Y305Y Substitution - coding silent Stomach COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2808688 AP001011.3_ENST00000320876 c.5275G>A p.A1759T Substitution - Missense Prostate COSM3905144 GTF3C4 c.578T>C p.I193T Substitution - Missense Stomach COSM4836361 SFMBT1 c.38C>T p.S13F Substitution - Missense Cervix COSM4432437 RAG2 c.728G>A p.G243D Substitution - Missense Oesophagus COSM474144 SMARCA4 c.1917G>T p.L639L Substitution - coding silent Kidney COSM4156853 PHF16 c.472A>C p.M158L Substitution - Missense Thyroid COSM4803715 NCOA3 c.1505-2A>G p.? Unknown Liver COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3714779 WHSC1 c.82C>T p.L28F Substitution - Missense Upper_aerodigestive_tract COSM4778081 ATAD2 c.3916C>T p.Q1306* Substitution - Nonsense Prostate COSM84489 SMARCA4 c.3469C>T p.R1157W Substitution - Missense Skin COSM2151451 SMARCA2 c.3292G>A p.G1098S Substitution - Missense Central_nervous_system COSM1718381 CDYL c.253_254GG>AA p.G85N Substitution - Missense Skin COSM4169531 TET2 c.? p.P761L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM99742 DNMT3A c.2191_2193delTTC p.F731del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM3754332 TP53BP1 c.1234G>A p.G412S Substitution - Missense Large_intestine COSM4635108 PRMT10 c.919G>A p.A307T Substitution - Missense Large_intestine COSM3714790 INTS12 c.289G>T p.E97* Substitution - Nonsense Upper_aerodigestive_tract COSM1027533 ZMYND8 c.450T>C p.C150C Substitution - coding silent Endometrium COSM4068925 BPTF c.5216A>G p.E1739G Substitution - Missense Stomach COSM966702 CHD2 c.1307A>C p.K436T Substitution - Missense Endometrium COSM4625770 RING1 c.1065C>T p.G355G Substitution - coding silent Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4671294 CDYL c.1463T>A p.V488D Substitution - Missense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1200970 CHD3 c.3010T>G p.F1004V Substitution - Missense Large_intestine COSM1169364 PHF8 c.281G>C p.R94T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4591901 NCOR1 c.618+6T>A p.? Unknown Upper_aerodigestive_tract COSM4695857 KIAA2026_ENST00000399933 c.1388A>G p.Y463C Substitution - Missense Large_intestine COSM396179 ARID1B c.3455_3456GG>CT p.G1152>? Complex Lung COSM52009 TET2 c.? p.G1282D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5575149 GABRG1 c.307G>C p.D103H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144709 PHF6 c.? p.C215F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1756778 KDM5A c.1999G>C p.E667Q Substitution - Missense Urinary_tract COSM1034584 L3MBTL2 c.67G>A p.D23N Substitution - Missense Endometrium COSM3463405 SMARCC2 c.389C>T p.S130F Substitution - Missense Skin COSM5511184 PRDM15 c.3183C>T p.C1061C Substitution - coding silent Biliary_tract COSM1666942 ASXL1 c.? p.N180T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1192753 CBX5 c.317delA p.K106fs*31 Deletion - Frameshift Large_intestine COSM4960570 KMT2C c.6046G>A p.V2016M Substitution - Missense Liver COSM318865 ATRX c.3205G>T p.G1069W Substitution - Missense Lung COSM5376488 ZMYM2 c.2679C>T p.I893I Substitution - coding silent Skin COSM2210696 ASH1L c.4448A>G p.H1483R Substitution - Missense Oesophagus COSM941549 SMARCC2 c.2839C>T p.R947W Substitution - Missense Large_intestine COSM1680025 BPTF c.2939G>A p.G980E Substitution - Missense Large_intestine COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4669561 CBX2 c.881C>T p.T294M Substitution - Missense Large_intestine COSM4539515 NCOA7 c.2696G>A p.G899E Substitution - Missense Skin COSM3353080 TDRD6 c.2783C>T p.A928V Substitution - Missense Large_intestine COSM41852 TET2 c.4109G>A p.G1370E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1211749 KDM4C c.802G>T p.E268* Substitution - Nonsense Large_intestine COSM4387441 BAP1 c.1217_1220delAGGA p.E406fs*23 Deletion - Frameshift Eye COSM5608301 DOT1L c.1242C>T p.P414P Substitution - coding silent Skin COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1381177 SMYD4 c.874G>A p.G292R Substitution - Missense Large_intestine COSM86974 IKZF1 c.1-?_589+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5607858 ARID1B c.2014C>T p.P672S Substitution - Missense Skin COSM41742 TET2 c.5152G>T p.V1718L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5638371 PCNA c.287C>G p.A96G Substitution - Missense Oesophagus COSM2834957 CHD9 c.8321C>A p.S2774Y Substitution - Missense Large_intestine COSM1754543 SIRT5 c.862C>T p.H288Y Substitution - Missense Urinary_tract COSM5953872 ELP3 c.175G>A p.D59N Substitution - Missense Upper_aerodigestive_tract COSM955474 BAZ1A c.743C>T p.T248M Substitution - Missense Stomach COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Soft_tissue COSM5996035 CHD1 c.4944A>G p.E1648E Substitution - coding silent Prostate COSM1187530 MYST3 c.3943G>A p.D1315N Substitution - Missense Large_intestine COSM5814437 SCML2 c.1578A>G p.P526P Substitution - coding silent Liver COSM4477585 CTCF c.2166C>T p.L722L Substitution - coding silent Skin COSM1678376 INOC1 c.1403C>A p.S468* Substitution - Nonsense Large_intestine COSM5070083 HNF1A c.1092T>C p.S364S Substitution - coding silent Large_intestine COSM313156 NCOA5 c.788A>T p.H263L Substitution - Missense Soft_tissue COSM4566156 HDAC9 c.3189_3190GG>AA p.M1063_E1064>IK Complex - compound substitution Skin COSM4405271 ZMYND8 c.2705A>T p.K902M Substitution - Missense Skin COSM452728 KMT2C c.2379G>A p.S793S Substitution - coding silent Large_intestine COSM443835 CHD6 c.4811C>G p.P1604R Substitution - Missense Breast COSM5006399 MBD6 c.2828C>T p.P943L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5972058 NCOR1 c.2080C>A p.R694R Substitution - coding silent Upper_aerodigestive_tract COSM1619517 BRD8 c.2893A>G p.N965D Substitution - Missense Liver COSM28790 KDM6A c.2122G>T p.G708* Substitution - Nonsense Lung COSM4634158 NCOR1 c.3834C>A p.P1278P Substitution - coding silent Large_intestine COSM1719608 MYST1 c.1143C>T p.S381S Substitution - coding silent Skin COSM3906844 TAF1L c.2663G>A p.R888H Substitution - Missense Thymus COSM4039428 HNF1A c.1391T>C p.F464S Substitution - Missense Stomach COSM3896562 ATAD2 c.941A>G p.H314R Substitution - Missense Stomach COSM1348577 JMJD1C c.5364delA p.E1789fs*45 Deletion - Frameshift Large_intestine COSM140896 KDM5C c.4468G>T p.E1490* Substitution - Nonsense Skin COSM4806471 EP400 c.121C>G p.P41A Substitution - Missense Liver COSM551917 YY1 c.1154G>T p.C385F Substitution - Missense Central_nervous_system COSM5588542 ORC1 c.1997G>T p.R666L Substitution - Missense Skin COSM5954777 ATRX c.4821T>C p.F1607F Substitution - coding silent Upper_aerodigestive_tract COSM225885 KMT2C c.1139G>T p.R380L Substitution - Missense Thyroid COSM5787755 TRIM24 c.1705-10G>A p.? Unknown Breast COSM4119067 BAP1 c.99C>A p.Y33* Substitution - Nonsense Stomach COSM5668312 PHF14 c.128G>T p.G43V Substitution - Missense Soft_tissue COSM5995719 TET2 c.665A>T p.H222L Substitution - Missense Prostate COSM3894917 MBD5 c.2084C>T p.S695L Substitution - Missense Skin COSM78473 SETD4 c.269G>A p.R90Q Substitution - Missense Ovary COSM3296128 MBD5 c.1326C>A p.P442P Substitution - coding silent Upper_aerodigestive_tract COSM5713545 TET2 c.2332_2333insAA p.T779fs*35 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM96935 ATRX c.789G>A p.W263* Substitution - Nonsense Central_nervous_system COSM13394 MSH6 c.3261_3262insC p.F1088fs*5 Insertion - Frameshift Endometrium COSM345142 EYA2 c.826G>A p.D276N Substitution - Missense Lung COSM4488576 RAD54L c.334C>T p.P112S Substitution - Missense Skin COSM4796747 TRIM66 c.3019G>A p.G1007R Substitution - Missense Liver COSM1114785 SMARCA1 c.2147G>T p.R716I Substitution - Missense Endometrium COSM457532 KDM6A c.3452A>G p.N1151S Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5563822 MYST3 c.1665G>A p.Q555Q Substitution - coding silent Prostate COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3853980 NSD1 c.6317A>T p.K2106M Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1060219 LMNB1 c.391G>A p.A131T Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2855524 PHF10 c.389G>A p.R130H Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5600455 SETD2 c.3866G>A p.S1289N Substitution - Missense Skin COSM1607642 BAZ1A c.165T>C p.A55A Substitution - coding silent Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM4061202 CHD9 c.7901G>A p.R2634Q Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3912167 PRDM15 c.1389C>T p.F463F Substitution - coding silent Skin COSM4839904 ARID1B c.3984T>G p.Y1328* Substitution - Nonsense Cervix COSM466004 TAF3 c.2400G>T p.A800A Substitution - coding silent Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4073743 DNMT1 c.3996C>T p.H1332H Substitution - coding silent Stomach COSM4097541 ASXL1 c.484A>G p.K162E Substitution - Missense Stomach COSM3555055 TCF20 c.2444C>T p.P815L Substitution - Missense Skin COSM144607 KMT2D c.4180G>T p.E1394* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4883178 SCML2 c.1044G>T p.G348G Substitution - coding silent Upper_aerodigestive_tract COSM3701417 MUM1 c.378G>A p.E126E Substitution - coding silent Liver COSM1285294 GTF3C4 c.883G>A p.V295I Substitution - Missense Autonomic_ganglia COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5494554 ARID2 c.1985_1986insTT p.T663fs*1 Insertion - Frameshift Biliary_tract COSM1228829 TDRD5 c.542C>T p.A181V Substitution - Missense Large_intestine COSM5384750 SRCAP c.2741C>T p.S914F Substitution - Missense Skin COSM5509435 KIAA1045 c.850-1G>A p.? Unknown Biliary_tract COSM33732 IDH2 c.515G>T p.R172M Substitution - Missense Central_nervous_system COSM1242892 STK31 c.668delA p.K225fs*35 Deletion - Frameshift Large_intestine COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1663347 PBRM1 c.755T>C p.I252T Substitution - Missense Kidney COSM302137 EP400 c.8181A>G p.Q2727Q Substitution - coding silent Endometrium COSM4104156 CBX6 c.587C>T p.A196V Substitution - Missense Stomach COSM4593941 L3MBTL2 c.697G>C p.A233P Substitution - Missense Upper_aerodigestive_tract COSM78542 SMARCA1 c.1574G>A p.R525H Substitution - Missense Ovary COSM52996 EZH2 c.619C>T p.R207* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4827182 AKAP1 c.502G>C p.D168H Substitution - Missense Cervix COSM5740289 INOC1 c.728G>A p.R243H Substitution - Missense Small_intestine COSM1292357 PHF3 c.1946A>T p.H649L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3377364 CHD8 c.6026C>T p.P2009L Substitution - Missense Pancreas COSM5903018 KDM2B c.2366-5C>T p.? Unknown Skin COSM2965370 KDM6A c.2040C>T p.N680N Substitution - coding silent Upper_aerodigestive_tract COSM3668118 AP001011.3_ENST00000320876 c.3733A>G p.I1245V Substitution - Missense Liver COSM3799617 ZMYND8 c.840A>G p.L280L Substitution - coding silent Urinary_tract COSM3945848 TET2 c.4783A>G p.M1595V Substitution - Missense Lung COSM3797022 DPF1 c.421T>C p.C141R Substitution - Missense Urinary_tract COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM23054 MEN1 c.512G>A p.R171Q Substitution - Missense Adrenal_gland COSM33096 KMT2C c.11092A>T p.T3698S Substitution - Missense Large_intestine COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85911 IKZF1 c.161-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52980 EZH2 c.2069G>A p.R690H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87182 TET2 c.5482C>T p.Q1828* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM112087 TDG c.286_287insA p.I98fs*6 Insertion - Frameshift Skin COSM96934 ATRX c.5408G>A p.R1803H Substitution - Missense Central_nervous_system COSM118409 PRDM15 c.2643A>G p.R881R Substitution - coding silent Ovary COSM144478 SMARCA1 c.1004G>A p.R335H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Central_nervous_system COSM267086 ORC1 c.1669G>T p.A557S Substitution - Missense Large_intestine COSM329698 RBBP7 c.959delT p.F320fs*22 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM417171 RAI1 c.3720C>G p.V1240V Substitution - coding silent Urinary_tract COSM443838 CHD6 c.1048C>T p.R350* Substitution - Nonsense Breast COSM454809 PRDM14 c.888C>T p.Y296Y Substitution - coding silent Prostate COSM954418 CHD8 c.6885+2T>G p.? Unknown Endometrium COSM939510 ARID2 c.4052G>T p.S1351I Substitution - Missense Endometrium COSM1025715 ASXL1 c.246G>A p.T82T Substitution - coding silent Endometrium COSM939555 KDM5A c.796C>T p.R266* Substitution - Nonsense Endometrium COSM754853 MORF4L2 c.494G>A p.C165Y Substitution - Missense Lung COSM748351 TRRAP c.1688G>A p.G563D Substitution - Missense Lung COSM696924 RNF17 c.136C>T p.H46Y Substitution - Missense Lung COSM907721 ARID1A c.3979C>T p.Q1327* Substitution - Nonsense Endometrium COSM905240 ACTA1 c.592C>T p.R198C Substitution - Missense Oesophagus COSM923586 KMT2A c.6278G>T p.R2093M Substitution - Missense Endometrium COSM959476 SETD3 c.1371T>C p.L457L Substitution - coding silent Endometrium COSM1107814 SMARCA2 c.3911T>C p.F1304S Substitution - Missense Endometrium COSM1108228 TAF1L c.3496G>T p.D1166Y Substitution - Missense Endometrium COSM1087062 EZH2 c.484G>T p.E162* Substitution - Nonsense Endometrium COSM1209430 HDGFL1 c.458C>T p.P153L Substitution - Missense Large_intestine COSM1162748 BRD9 c.928A>T p.M310L Substitution - Missense Large_intestine COSM1583100 DNMT3A c.2129G>C p.C710S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1211793 KDM5C c.1853G>A p.C618Y Substitution - Missense Large_intestine COSM1300091 RNF17 c.694G>C p.E232Q Substitution - Missense Urinary_tract COSM1390291 SMARCA4 c.4887T>C p.D1629D Substitution - coding silent Large_intestine COSM1429841 GABRG1 c.506G>A p.R169Q Substitution - Missense Skin COSM1411309 NCOA6 c.4395G>A p.S1465S Substitution - coding silent Large_intestine COSM1433329 BRD8 c.532delC p.R178fs*6 Deletion - Frameshift Large_intestine COSM1460302 SET c.469G>T p.E157* Substitution - Nonsense Large_intestine COSM1358484 PRDM4 c.2182C>T p.R728W Substitution - Missense Large_intestine COSM1562703 CHD8 c.2844T>A p.D948E Substitution - Missense Large_intestine COSM1608124 SETD3 c.1468C>T p.R490C Substitution - Missense Liver COSM1491984 ARID1A c.2190T>C p.S730S Substitution - coding silent Kidney COSM1489856 EHMT1 c.3231G>A p.A1077A Substitution - coding silent Breast COSM1610707 PHF23 c.160-6T>A p.? Unknown Liver COSM1623355 TRRAP c.3962G>T p.R1321M Substitution - Missense Large_intestine COSM1643195 MLL5 c.4998G>A p.S1666S Substitution - coding silent Stomach COSM1687264 ARID1A c.3740_3741CC>TT p.S1247F Substitution - Missense Skin COSM1698021 EYA4 c.1236G>A p.M412I Substitution - Missense Skin COSM1716717 ATRX c.5410G>C p.A1804P Substitution - Missense Central_nervous_system COSM1709015 CCDC101 c.659C>T p.P220L Substitution - Missense Skin COSM1716414 CTCF c.610_611insA p.T204fs*26 Insertion - Frameshift Endometrium COSM1716964 ALKBH1 c.356_357insCCTT p.K120fs*2 Insertion - Frameshift Ovary COSM1742838 BAHCC1 c.7155G>T p.A2385A Substitution - coding silent Biliary_tract COSM1756479 RBBP7 c.72G>A p.K24K Substitution - coding silent Urinary_tract COSM2153387 NCOA6 c.247C>A p.L83I Substitution - Missense Central_nervous_system COSM2098515 CHD4 c.2835_2836insA p.L946fs*3 Insertion - Frameshift Large_intestine COSM2687970 NIPBL c.5406A>G p.V1802V Substitution - coding silent Large_intestine COSM2874509 PRDM14 c.1548C>T p.P516P Substitution - coding silent Large_intestine COSM2889266 ASXL1 c.1881G>A p.A627A Substitution - coding silent Large_intestine COSM3010280 PHF17 c.1924C>T p.L642F Substitution - Missense Large_intestine COSM3367671 SMARCA2 c.2191G>T p.G731C Substitution - Missense Kidney COSM3383451 RAG2 c.1536A>C p.K512N Substitution - Missense Pancreas COSM3431099 PHF14 c.1969G>T p.E657* Substitution - Nonsense Large_intestine COSM3473715 TDRKH c.1269G>A p.R423R Substitution - coding silent Skin COSM3589871 MECOM c.1586C>T p.S529L Substitution - Missense Skin COSM3563110 ZMYM3 c.1938C>T p.L646L Substitution - coding silent Skin COSM3656842 TAF1L c.3614G>A p.R1205Q Substitution - Missense Skin COSM3693501 CHD6 c.3813G>A p.E1271E Substitution - coding silent Large_intestine COSM3763391 PRDM14 c.1416A>G p.Q472Q Substitution - coding silent Large_intestine COSM3769697 ASH1L c.7482G>T p.Q2494H Substitution - Missense Soft_tissue COSM3807733 KAT6B c.3216A>G p.E1072E Substitution - coding silent Prostate COSM3819724 HDAC5 c.481G>A p.E161K Substitution - Missense Breast COSM3917049 PRDM5 c.1678C>T p.L560L Substitution - coding silent Skin COSM3879612 KMT2C c.721G>T p.A241S Substitution - Missense Stomach COSM3888514 CREBBP c.4652A>G p.E1551G Substitution - Missense Skin COSM3950299 HDAC9 c.2379-4G>T p.? Unknown Lung COSM3964372 TCF20 c.3970G>A p.D1324N Substitution - Missense Lung COSM3970510 AP001011.3_ENST00000320876 c.3161A>G p.H1054R Substitution - Missense Central_nervous_system COSM4007570 MEAF6 c.284C>T p.T95I Substitution - Missense Stomach COSM4036880 RSF1 c.2702A>C p.N901T Substitution - Missense Stomach COSM3994204 NSD1 c.811T>G p.L271V Substitution - Missense Kidney COSM4002050 AIRE c.588C>T p.S196S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3995171 ZCWPW1 c.338A>G p.Q113R Substitution - Missense Kidney COSM3993341 SETD5_ENST00000402198 c.130A>G p.N44D Substitution - Missense Kidney COSM4066856 HDAC5 c.2177A>C p.K726T Substitution - Missense Stomach COSM4074979 BRD4 c.1597C>A p.Q533K Substitution - Missense Stomach COSM4157075 KDM5D c.3941A>C p.Y1314S Substitution - Missense Thyroid COSM4163942 KIAA2026_ENST00000399933 c.21G>T p.P7P Substitution - coding silent Thyroid COSM4168129 TDRD6 c.4295A>G p.K1432R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM42076 TET2 c.5554C>T p.Q1852* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4187479 SMARCA2 c.3983C>T p.A1328V Substitution - Missense Kidney COSM4186146 MYST3 c.3522G>T p.K1174N Substitution - Missense Kidney COSM4384334 KMT2C c.5065delG p.E1689fs*28 Deletion - Frameshift Breast COSM4390496 BAZ2B c.2872G>C p.E958Q Substitution - Missense Urinary_tract COSM4553958 MGA c.606G>A p.P202P Substitution - coding silent Skin COSM4583406 DNMT3A c.75C>G p.D25E Substitution - Missense Bone COSM4586115 PRDM1 c.1142C>G p.P381R Substitution - Missense Bone COSM4428022 CHD7 c.2130G>A p.L710L Substitution - coding silent Oesophagus COSM4496331 DOT1L c.472C>T p.L158L Substitution - coding silent Skin COSM4447421 UHRF1 c.2022_2022+1CC>TT p.? Unknown Skin COSM4447108 SETDB1 c.1580+3G>C p.? Unknown Skin COSM4473617 PHF15 c.1862C>T p.P621L Substitution - Missense Skin COSM4411409 POLE3 c.43A>T p.I15F Substitution - Missense Kidney COSM4732918 TDRD7 c.1330A>C p.S444R Substitution - Missense Large_intestine COSM4609450 SMARCA2 c.2887G>T p.E963* Substitution - Nonsense Adrenal_gland COSM4640292 DIDO1 c.5056C>T p.P1686S Substitution - Missense Large_intestine COSM4606483 MYST3 c.5539G>T p.G1847W Substitution - Missense Large_intestine COSM4792252 SMARCA1 c.319C>G p.H107D Substitution - Missense Liver COSM4778513 NCOR1 c.898A>T p.R300* Substitution - Nonsense Liver COSM4909142 KMT2C c.1050G>A p.P350P Substitution - coding silent Lung COSM4830471 FXR1 c.1551G>A p.L517L Substitution - coding silent Cervix COSM4981088 SMARCC1 c.2346A>C p.E782D Substitution - Missense Oesophagus COSM5015280 MGA c.301G>A p.G101R Substitution - Missense Kidney COSM5038968 RERE c.3745G>T p.D1249Y Substitution - Missense Liver COSM5349584 SFMBT2 c.436+4A>T p.? Unknown Lung COSM5365850 PHF20 c.329T>C p.V110A Substitution - Missense Large_intestine COSM5372422 RAG2 c.1511C>T p.S504F Substitution - Missense Skin COSM5366142 ACTR5 c.722G>A p.R241H Substitution - Missense Large_intestine COSM5409623 MYST3 c.855C>T p.D285D Substitution - coding silent Skin COSM5546595 KMT2D c.11728C>T p.Q3910* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5626323 PRDM14 c.56C>T p.P19L Substitution - Missense Oesophagus COSM5637613 SMARCC2 c.94G>C p.G32R Substitution - Missense Oesophagus COSM5599299 CHD9 c.5461G>A p.E1821K Substitution - Missense Skin COSM5696210 GABRG1 c.895G>T p.V299L Substitution - Missense Soft_tissue COSM5669739 HDGFL1 c.96G>T p.M32I Substitution - Missense Soft_tissue COSM5764334 BAZ2B c.5632G>A p.A1878T Substitution - Missense Large_intestine COSM5551436 CHD8 c.3108T>G p.D1036E Substitution - Missense Prostate COSM5569521 TRRAP c.7149T>G p.T2383T Substitution - coding silent Prostate COSM5820674 EP400 c.3373C>A p.R1125S Substitution - Missense Liver COSM5930010 DIDO1 c.6143C>T p.S2048F Substitution - Missense Skin COSM5986588 SETD2 c.6024+1_6024+2insGG p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5982483 HAT1 c.645C>T p.L215L Substitution - coding silent Upper_aerodigestive_tract COSM53171 TET2 c.? p.Q910* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM52873 PBRM1 c.602G>T p.G201V Substitution - Missense Kidney COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43409 TET2 c.? p.?fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1716786 TET2 c.? p.Q635* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM34193 ASXL1 c.? p.R596fs*23 Frameshift Haematopoietic_and_lymphoid_tissue COSM42056 TET2 c.3655C>T p.H1219Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM5019040 ERCC6 c.1196G>A p.G399D Substitution - Missense Soft_tissue COSM919493 JMJD1C c.2477A>T p.E826V Substitution - Missense Large_intestine COSM5992086 NCOA3 c.3784_3792delCAGCAGCAA p.Q1274_Q1276delQQQ Deletion - In frame Prostate COSM3790302 RERE c.528G>C p.K176N Substitution - Missense Urinary_tract COSM1605865 ATF7IP c.2719A>G p.I907V Substitution - Missense Liver COSM5051985 PHC1 c.2775A>C p.L925F Substitution - Missense Stomach COSM5352318 ARID1A c.? p.? Unknown Endometrium COSM1071542 CHD1 c.4721G>T p.R1574I Substitution - Missense Large_intestine COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM3682174 ATRX c.2540T>A p.F847Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2820588 DNMT3L c.45G>A p.M15I Substitution - Missense Skin COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Central_nervous_system COSM2740189 RAI1 c.1511C>T p.T504M Substitution - Missense Upper_aerodigestive_tract COSM3369695 RBBP4 c.169G>A p.E57K Substitution - Missense Thyroid COSM302646 KMT2D c.15208C>T p.R5070* Substitution - Nonsense Soft_tissue COSM1161665 KMT2C c.6434A>G p.Y2145C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1299438 KMT2D c.5965G>A p.E1989K Substitution - Missense Urinary_tract COSM5953747 RAI1 c.1305C>T p.L435L Substitution - coding silent Upper_aerodigestive_tract COSM5437357 SMARCC1 c.2398G>A p.E800K Substitution - Missense Oesophagus COSM1673518 SND1 c.298G>A p.E100K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3583362 INO80B c.992G>A p.G331E Substitution - Missense Skin COSM2931348 DIDO1 c.210C>T p.R70R Substitution - coding silent Large_intestine COSM1216535 KAT6B c.3409C>T p.R1137C Substitution - Missense Large_intestine COSM452690 KMT2C c.11266delG p.A3756fs*22 Deletion - Frameshift Breast COSM1610147 PCGF2 c.355G>C p.E119Q Substitution - Missense Liver COSM271571 TRIM24 c.2531G>A p.C844Y Substitution - Missense Large_intestine COSM1201015 CHD8 c.5608G>A p.D1870N Substitution - Missense Liver COSM5008194 TAF1 c.1031G>T p.G344V Substitution - Missense Large_intestine COSM2081888 MEAF6 c.276C>A p.S92S Substitution - coding silent Large_intestine COSM303615 ZMYND11 c.31G>T p.E11* Substitution - Nonsense Central_nervous_system COSM1668049 LMNA c.1147G>A p.E383K Substitution - Missense Large_intestine COSM4590120 KDM4B c.2128A>G p.K710E Substitution - Missense Upper_aerodigestive_tract COSM1179107 KMT2C c.851G>A p.R284Q Substitution - Missense Soft_tissue COSM3438394 ERCC6 c.40G>A p.E14K Substitution - Missense Skin COSM933794 ACTR6 c.1012C>T p.R338* Substitution - Nonsense Large_intestine COSM5788614 EYA4 c.69A>G p.Q23Q Substitution - coding silent Breast COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3758108 ATAD2B_ENST00000238789 c.202C>T p.L68L Substitution - coding silent Thyroid COSM5716522 HDAC10 c.1548G>A p.R516R Substitution - coding silent Skin COSM1362006 KMT2D c.8419A>G p.N2807D Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1581651 SETD2 c.5752A>G p.T1918A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM118342 PRDM9 c.1959T>C p.T653T Substitution - coding silent Ovary COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM43520 TET2 c.1378_1378delT p.S460fs*26 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1411075 ASXL1 c.1835G>T p.R612M Substitution - Missense Large_intestine COSM3700496 ASH1L c.6550A>G p.I2184V Substitution - Missense Liver COSM1299385 ARID2 c.3617C>T p.T1206M Substitution - Missense Urinary_tract COSM3671211 PHC1 c.2194C>A p.Q732K Substitution - Missense Prostate COSM285227 SMYD1 c.1098C>A p.A366A Substitution - coding silent Large_intestine COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM1287834 SETD8 c.1044G>A p.P348P Substitution - coding silent Central_nervous_system COSM3768889 BRD9 c.1132A>G p.K378E Substitution - Missense Liver COSM43474 TET2 c.(3893_3897)delG p.(C1298_K1299)fs*? Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1583086 DNMT3A c.1687G>A p.V563M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5945068 TET2 c.5533G>T p.E1845* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM88740 CREBBP c.4427C>G p.P1476R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM218912 KMT2C c.11056A>C p.N3686H Substitution - Missense Pancreas COSM52930 ASXL1 c.2324T>G p.L775* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4591233 NCOR1 c.534G>C p.K178N Substitution - Missense Upper_aerodigestive_tract COSM1487206 L3MBTL3 c.796G>T p.V266F Substitution - Missense Breast COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52896 PBRM1 c.3703delG p.V1235fs*34 Deletion - Frameshift Kidney COSM51481 ARID1A c.1197_1197delC p.P400fs*33 Deletion - Frameshift Ovary COSM4385668 KMT2D c.10412_10413insGCA p.Q3475_H3476insQ Insertion - In frame Haematopoietic_and_lymphoid_tissue COSM50729 CHD7 c.6022G>C p.D2008H Substitution - Missense Breast COSM87012 DNMT3A c.1903C>T p.R635W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Stomach COSM977566 SUZ12 c.1316G>T p.R439M Substitution - Missense Endometrium COSM1087599 KMT2C c.5345A>C p.Q1782P Substitution - Missense Endometrium COSM1184909 BRD8 c.161G>A p.R54H Substitution - Missense Stomach COSM150428 KMT2C c.2958A>G p.P986P Substitution - coding silent Kidney COSM5498670 KMT2A c.9648T>C p.S3216S Substitution - coding silent Biliary_tract COSM3525409 ASXL3 c.49G>A p.E17K Substitution - Missense Skin COSM4922890 PHF23 c.377C>G p.T126S Substitution - Missense Liver COSM4450101 EP300 c.4453-1G>A p.? Unknown Skin COSM3837455 ATF2 c.474G>C p.Q158H Substitution - Missense Breast COSM4883916 AIRE c.808G>A p.E270K Substitution - Missense Upper_aerodigestive_tract COSM1082839 ZCWPW1 c.1006G>T p.E336* Substitution - Nonsense Endometrium COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53099 DNMT3A c.2597+2T>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5694266 SETD2 c.4268A>T p.Q1423L Substitution - Missense Soft_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1586681 CHD4 c.423T>G p.D141E Substitution - Missense Endometrium COSM79963 HDAC6 c.1522T>C p.L508L Substitution - coding silent Ovary COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1634547 SHPRH c.1494G>A p.Q498Q Substitution - coding silent Liver COSM1190915 MYST2 c.932delG p.R311fs*14 Deletion - Frameshift Lung COSM3174115 EYA4 c.978C>T p.F326F Substitution - coding silent Breast COSM5474065 MUM1 c.761C>T p.P254L Substitution - Missense Large_intestine COSM4131185 SMARCA4 c.1524T>C p.H508H Substitution - coding silent Soft_tissue COSM3101367 GATAD2A c.1126A>C p.S376R Substitution - Missense Bone COSM5371771 KMT2A c.3146C>T p.P1049L Substitution - Missense Skin COSM1388277 SMCHD1 c.379delA p.K128fs*3 Deletion - Frameshift Large_intestine COSM5509148 CHD9 c.1738_1739insA p.T582fs*6 Insertion - Frameshift Biliary_tract COSM377224 DIDO1 c.4441G>T p.E1481* Substitution - Nonsense Lung COSM5597089 KMT2A c.3332A>T p.D1111V Substitution - Missense Skin COSM4576385 HDGF c.541G>C p.E181Q Substitution - Missense Bone COSM4768761 MLL5 c.3581A>G p.N1194S Substitution - Missense Biliary_tract COSM1629919 CHD9 c.1694A>C p.K565T Substitution - Missense Liver COSM5718730 RTF1 c.256C>T p.R86C Substitution - Missense Skin COSM2698476 MYST2 c.930C>T p.F310F Substitution - coding silent Large_intestine COSM5510177 L3MBTL3 c.960G>A p.G320G Substitution - coding silent Biliary_tract COSM3371544 TRIM28 c.402C>A p.F134L Substitution - Missense Cervix COSM1683970 ACTL6A c.269delA p.N90fs*47 Deletion - Frameshift Large_intestine COSM5835715 SMARCA2 c.2526+1_2526+2insACA p.? Unknown Breast COSM1675949 RAG2 c.704G>T p.R235I Substitution - Missense Large_intestine COSM360168 DAXX c.2002A>T p.S668C Substitution - Missense Lung COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1377468 SRCAP c.3211C>G p.L1071V Substitution - Missense Large_intestine COSM33731 IDH2 c.514A>G p.R172G Substitution - Missense Central_nervous_system COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3203702 MECOM c.686C>T p.T229M Substitution - Missense Central_nervous_system COSM1377820 CREBBP c.4837G>A p.V1613M Substitution - Missense Stomach COSM5142245 SMARCC2 c.2622+6G>A p.? Unknown Large_intestine COSM420320 ATXN7 c.463C>T p.Q155* Substitution - Nonsense Urinary_tract COSM1469490 ATRX c.890_892delAGA p.K297delK Deletion - In frame Large_intestine COSM1427012 PHF17 c.417T>C p.C139C Substitution - coding silent Large_intestine COSM1254022 HDAC9 c.1351C>T p.R451* Substitution - Nonsense Oesophagus COSM1462172 KIAA1045 c.258C>T p.R86R Substitution - coding silent Large_intestine COSM3674895 HDAC9 c.1333C>A p.R445S Substitution - Missense Prostate COSM5009669 TAF1L c.5106A>G p.K1702K Substitution - coding silent Large_intestine COSM747412 ACTB c.1062G>C p.Q354H Substitution - Missense Lung COSM1088638 STK31 c.1586G>T p.R529I Substitution - Missense Endometrium COSM4484313 DIDO1 c.2797C>T p.P933S Substitution - Missense Skin COSM3396669 SND1 c.1189C>A p.P397T Substitution - Missense Prostate COSM121906 SMARCC1 c.2301C>G p.P767P Substitution - coding silent Oesophagus COSM4926879 PHF3 c.376C>A p.P126T Substitution - Missense Liver COSM3773386 BAP1 c.? p.L65* Substitution - Nonsense Liver COSM4753742 TCF20 c.3580C>G p.Q1194E Substitution - Missense Stomach COSM930384 DPF2 c.1048C>T p.R350C Substitution - Missense Endometrium COSM41293 IDH1 c.? p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24617 SMARCB1 c.1_628del628 p.? Unknown Central_nervous_system COSM4499996 CHD3 c.5382C>T p.A1794A Substitution - coding silent Skin COSM5360089 ZMYND11 c.1059A>C p.P353P Substitution - coding silent Large_intestine COSM2153720 BRD1 c.178A>C p.I60L Substitution - Missense Central_nervous_system COSM3657754 KDM4C c.1168G>T p.E390* Substitution - Nonsense Skin COSM255120 MEN1 c.363_367delCTCCG p.S122fs*56 Deletion - Frameshift Parathyroid COSM1357566 TRIM66 c.2891delC p.P964fs*4 Deletion - Frameshift Large_intestine COSM163452 PHF3 c.1575C>T p.V525V Substitution - coding silent Breast COSM4915070 NCOA3 c.1940A>G p.K647R Substitution - Missense Liver COSM3377715 MGA c.7454G>A p.R2485H Substitution - Missense Pancreas COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34192 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM3642818 TRRAP c.8204C>T p.S2735F Substitution - Missense Skin COSM5745329 PHF12 c.1661G>A p.S554N Substitution - Missense Pancreas COSM5594017 ZBTB4 c.2889C>T p.F963F Substitution - coding silent Skin COSM5994018 SMEK2 c.1812A>C p.K604N Substitution - Missense Prostate COSM5476555 LMNB1 c.1671G>A p.E557E Substitution - coding silent Large_intestine COSM3840734 ASXL1 c.3237C>G p.S1079S Substitution - coding silent Breast COSM384131 KMT2C c.11146G>T p.E3716* Substitution - Nonsense Lung COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3642818 TRRAP c.8204C>T p.S2735F Substitution - Missense Skin COSM5945320 CREBBP c.1501C>T p.Q501* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5411030 KIAA1045 c.463C>T p.H155Y Substitution - Missense Skin COSM288076 CDYL2 c.858G>A p.A286A Substitution - coding silent Large_intestine COSM2131872 TRDMT1 c.724A>G p.N242D Substitution - Missense Lung COSM3528437 SMARCA4 c.4252G>A p.D1418N Substitution - Missense Skin COSM1559373 HNF1A c.1545G>A p.T515T Substitution - coding silent Soft_tissue COSM4583127 IDH1 c.366T>C p.S122S Substitution - coding silent Bone COSM6005108 SMC1A c.747C>T p.I249I Substitution - coding silent Prostate COSM1752066 BAZ2B c.2491G>A p.E831K Substitution - Missense Urinary_tract COSM5643060 PHC3 c.80C>A p.S27Y Substitution - Missense Oesophagus COSM272705 FXR1 c.364delA p.N124fs*14 Deletion - Frameshift Large_intestine COSM217018 ARID2 c.2134G>T p.E712* Substitution - Nonsense Liver COSM4725320 SFMBT2 c.2626A>G p.K876E Substitution - Missense Large_intestine COSM5053928 BAZ1A c.1924C>T p.R642* Substitution - Nonsense Stomach COSM1685359 SETBP1 c.? p.G870D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5626552 ACTA1 c.756C>T p.I252I Substitution - coding silent Oesophagus COSM1684722 SETBP1 c.2608G>C p.G870R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2260280 MTF2 c.1180_1181insA p.G397fs*23 Insertion - Frameshift Breast COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM739797 PRDM1 c.181G>A p.E61K Substitution - Missense Lung COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM423044 PBRM1 c.329delA p.N110fs*3 Deletion - Frameshift Kidney COSM1632994 TBL1XR1 c.227G>C p.R76P Substitution - Missense Liver COSM5811813 HDAC2 c.885A>G p.P295P Substitution - coding silent Liver COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1107411 PSIP1 c.940C>T p.R314* Substitution - Nonsense Urinary_tract COSM350324 EP300 c.4391A>T p.Q1464L Substitution - Missense Lung COSM3719552 ASXL1 c.2422delC p.P808fs*10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4749135 KDM4B c.1079C>T p.A360V Substitution - Missense Stomach COSM5006436 PHF7 c.546A>G p.Q182Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4487262 RAD54L c.315C>T p.V105V Substitution - coding silent Skin COSM5432119 ASXL3 c.2508G>C p.L836F Substitution - Missense Oesophagus COSM297829 PHF17 c.936G>A p.A312A Substitution - coding silent Large_intestine COSM920525 KAT6B c.1786C>T p.R596W Substitution - Missense Endometrium COSM171492 BRDT c.934G>A p.V312I Substitution - Missense Large_intestine COSM4040270 EP400 c.5019C>T p.G1673G Substitution - coding silent Stomach COSM1107696 SMARCA2 c.1132G>T p.V378L Substitution - Missense Endometrium COSM4838379 MLL5 c.5086C>G p.P1696A Substitution - Missense Cervix COSM5149791 LMNB2 c.138G>A p.A46A Substitution - coding silent Large_intestine COSM472487 PHF12 c.2653A>T p.I885F Substitution - Missense Kidney COSM1754937 PHIP c.1607G>C p.G536A Substitution - Missense Urinary_tract COSM3980150 SMARCC2 c.1462C>T p.R488* Substitution - Nonsense Oesophagus COSM3385165 TDRKH c.35C>A p.S12Y Substitution - Missense Pancreas COSM5615237 MECOM c.1778G>T p.S593I Substitution - Missense Lung COSM3825584 ING2 c.602C>T p.S201L Substitution - Missense Breast COSM3771154 ATF2 c.201T>G p.D67E Substitution - Missense Pancreas COSM4061080 BRD7 c.1370A>T p.Y457F Substitution - Missense Stomach COSM907690 ARID1A c.1681C>T p.Q561* Substitution - Nonsense Endometrium COSM1387290 BAHCC1 c.4410G>A p.T1470T Substitution - coding silent Large_intestine COSM1732982 SETD1B c.2059G>A p.A687T Substitution - Missense Pancreas COSM993 SMARCB1 c.601C>T p.R201* Substitution - Nonsense Soft_tissue COSM52001 TET2 c.? p.L1637fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM5427628 BRWD1 c.4531T>C p.S1511P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2828886 SETD5_ENST00000402198 c.4140G>T p.S1380S Substitution - coding silent Upper_aerodigestive_tract COSM96421 EP300 c.1738C>T p.R580* Substitution - Nonsense Large_intestine COSM5661260 AIRE c.538G>T p.G180W Substitution - Missense Soft_tissue COSM3035796 SCML2 c.782G>T p.S261I Substitution - Missense Large_intestine COSM1753512 PRDM5 c.817C>A p.L273M Substitution - Missense Urinary_tract COSM4804842 KDM3B c.3864C>T p.T1288T Substitution - coding silent Liver COSM930498 KAT5 c.1257C>A p.I419I Substitution - coding silent Endometrium COSM5562089 L3MBTL4 c.894A>C p.P298P Substitution - coding silent Prostate COSM86974 IKZF1 c.1-?_589+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1636825 ING4 c.705A>T p.K235N Substitution - Missense Bone COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5467677 TAF1L c.415G>T p.D139Y Substitution - Missense Large_intestine COSM70171 CHD8 c.2408A>G p.H803R Substitution - Missense Ovary COSM4416352 TDRD5 c.1113G>A p.K371K Substitution - coding silent Thyroid COSM1605258 RSF1 c.3016A>G p.N1006D Substitution - Missense Liver COSM3878485 TRIM24 c.1016G>A p.R339H Substitution - Missense Stomach COSM907756 ARID1A c.6624delC p.Q2209fs*22 Deletion - Frameshift Endometrium COSM5020996 NSD1 c.5781C>G p.A1927A Substitution - coding silent Soft_tissue COSM1741366 SETDB2 c.310G>A p.E104K Substitution - Missense Urinary_tract COSM231560 DNMT3A c.2206C>T p.R736C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1606144 ARID2 c.4427C>T p.S1476F Substitution - Missense Liver COSM3858855 SHPRH c.2377C>T p.R793C Substitution - Missense Stomach COSM4756522 PHF3 c.5800C>T p.R1934* Substitution - Nonsense Stomach COSM4580203 CBX2 c.1418C>T p.S473F Substitution - Missense Bone COSM5472439 BAZ1B c.1255G>T p.G419W Substitution - Missense Large_intestine COSM1460904 WDR5 c.641_642insC p.V217fs*42 Insertion - Frameshift Large_intestine COSM4717435 PRDM1 c.1035C>T p.Y345Y Substitution - coding silent Large_intestine COSM3502556 PYGO1 c.662C>T p.S221F Substitution - Missense Skin COSM5919167 TDRD6 c.4264G>A p.G1422R Substitution - Missense Skin COSM97131 IDH1 c.532G>A p.V178I Substitution - Missense Soft_tissue COSM4480254 ARID1B c.2188C>G p.Q730E Substitution - Missense Skin COSM5421042 PRDM2 c.2380A>T p.T794S Substitution - Missense Prostate COSM211751 TET2 c.5711A>G p.H1904R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1254007 HDAC4 c.3038C>T p.A1013V Substitution - Missense Skin COSM3912231 DNMT3L c.444C>T p.S148S Substitution - coding silent Skin COSM37029 EZH2 c.1937A>C p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM417325 CTCF c.1602G>A p.Q534Q Substitution - coding silent Urinary_tract COSM1137668 KMT2C c.2309T>A p.F770Y Substitution - Missense Kidney COSM133038 EZH2 c.2035G>A p.V679M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4000327 CBX4 c.871T>C p.S291P Substitution - Missense Thyroid COSM691523 TDG c.479-1G>A p.? Unknown Lung COSM4035922 KDM2A c.3298A>G p.N1100D Substitution - Missense Stomach COSM1180774 KDM5A c.3597delA p.G1200fs*9 Deletion - Frameshift Large_intestine COSM1299180 ATF7IP c.3360C>T p.L1120L Substitution - coding silent Urinary_tract COSM4168304 KDM6A c.3337G>C p.V1113L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2158475 JMJD1C c.3163G>A p.E1055K Substitution - Missense Large_intestine COSM88749 CREBBP c.4336C>T p.R1446C Substitution - Missense Large_intestine COSM5938149 L3MBTL3 c.250C>T p.P84S Substitution - Missense Skin COSM1737873 SMARCA4 c.3277C>T p.R1093* Substitution - Nonsense Ovary COSM4882005 DHX30 c.2397G>A p.R799R Substitution - coding silent Upper_aerodigestive_tract COSM251400 ARID1A c.3424C>T p.Q1142* Substitution - Nonsense Endometrium COSM33806 SMARCB1 c.769C>T p.Q257* Substitution - Nonsense Soft_tissue COSM5805278 LMNB1 c.1491A>T p.T497T Substitution - coding silent Liver COSM5995719 TET2 c.665A>T p.H222L Substitution - Missense Prostate COSM1474215 RERE c.2006C>G p.T669R Substitution - Missense Breast COSM5769256 ZCWPW1 c.479+7T>G p.? Unknown Breast COSM4782323 CHD4 c.1168C>T p.R390C Substitution - Missense Stomach COSM3781610 ARID1B c.768C>A p.G256G Substitution - coding silent Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5626771 MSH6 c.341C>G p.P114R Substitution - Missense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4042330 KMT2D c.14915T>C p.V4972A Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1034257 CBX7 c.419G>A p.R140H Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM920703 TAF3 c.1381G>A p.D461N Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5444546 SETD1B c.1741G>A p.D581N Substitution - Missense Oesophagus COSM3259704 EZH2 c.47G>A p.R16Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM267971 ASXL1 c.2893C>T p.R965* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM2160385 SFMBT2 c.2586G>A p.T862T Substitution - coding silent Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1165882 SFMBT2 c.2462C>T p.P821L Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1048970 SETD5_ENST00000402198 c.550A>C p.K184Q Substitution - Missense Endometrium COSM3821299 SMCHD1 c.1520A>G p.N507S Substitution - Missense Breast COSM4441447 CHD2 c.2154G>T p.R718S Substitution - Missense Large_intestine COSM4481166 AICDA c.248C>T p.S83F Substitution - Missense Skin COSM5610839 TET2 c.692C>T p.S231F Substitution - Missense Skin COSM1676583 PRDM10 c.2417C>T p.A806V Substitution - Missense Large_intestine COSM3382538 KIAA2026_ENST00000399933 c.1893A>G p.P631P Substitution - coding silent Pancreas COSM5957235 ORC1 c.289G>T p.A97S Substitution - Missense Thyroid COSM3570154 ATF2 c.929C>T p.S310F Substitution - Missense Skin COSM3723035 PHF2 c.2955T>C p.S985S Substitution - coding silent Thyroid COSM5974809 SETD2 c.1479A>G p.S493S Substitution - coding silent Upper_aerodigestive_tract COSM4711398 PBRM1 c.1069_1070insCA p.E357fs*6 Insertion - Frameshift Large_intestine COSM5787714 HDAC6 c.1546G>A p.E516K Substitution - Missense Breast COSM4953163 EP400 c.5002T>C p.L1668L Substitution - coding silent Liver COSM1399841 MBD5 c.930_931insA p.P313fs*4 Insertion - Frameshift Large_intestine COSM3747384 HCFC1 c.4651+8C>T p.? Unknown Liver COSM681899 RAD54L c.1183A>G p.R395G Substitution - Missense Lung COSM4882920 KMT2A c.11814G>T p.E3938D Substitution - Missense Upper_aerodigestive_tract COSM5616573 ATF7IP c.2097G>T p.L699L Substitution - coding silent Lung COSM132968 ASXL1 c.? p.E635fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM4154979 KDM5C c.958C>T p.Q320* Substitution - Nonsense Kidney COSM5449422 CHD6 c.4457G>A p.R1486H Substitution - Missense Large_intestine COSM3649303 MYST3 c.2166C>T p.I722I Substitution - coding silent Skin COSM4888482 NCOA2 c.1219G>C p.A407P Substitution - Missense Upper_aerodigestive_tract COSM133043 EZH2 c.1718C>T p.T573I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2965370 KDM6A c.2040C>T p.N680N Substitution - coding silent Upper_aerodigestive_tract COSM923569 KMT2A c.760A>C p.K254Q Substitution - Missense Endometrium COSM3756290 SMARCA4 c.1413G>A p.K471K Substitution - coding silent Soft_tissue COSM1716423 CTCF c.1025G>A p.R342H Substitution - Missense Endometrium COSM252636 MYST2 c.1154T>C p.M385T Substitution - Missense Ovary COSM5646109 ZMYM3 c.1349G>C p.C450S Substitution - Missense Oesophagus COSM5715555 SRCAP c.4123C>T p.L1375F Substitution - Missense Skin COSM928939 PHRF1 c.409G>A p.E137K Substitution - Missense Endometrium COSM1372835 MGA c.7545+1G>T p.? Unknown Large_intestine COSM22855 JARID2 c.2596G>A p.G866S Substitution - Missense Pancreas COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM23049 MEN1 c.1240_1275del36 p.L414_E425del Deletion - In frame Parathyroid COSM39851 ARID1A c.46C>T p.P16S Substitution - Missense Central_nervous_system COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85911 IKZF1 c.161-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51441 ARID1A c.5161C>T p.R1721* Substitution - Nonsense Large_intestine COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM78543 SMARCA2 c.404C>A p.S135Y Substitution - Missense Ovary COSM76388 SETD2 c.3467G>T p.G1156V Substitution - Missense Ovary COSM97046 ASXL1 c.3935C>T p.A1312V Substitution - Missense Bone COSM110788 TET2 c.2638_2641CACA>AC p.H880fs*20 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM96365 BAP1 c.1892_1901del10 p.E631fs*3 Deletion - Frameshift Pleura COSM124692 NCOA6 c.4766C>T p.S1589F Substitution - Missense Skin COSM133737 DNMT3A c.2207G>A p.R736H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM137208 NCOA6 c.1235C>T p.S412F Substitution - Missense Skin COSM166527 DNMT3A c.2726T>G p.F909C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Prostate COSM255188 PHF6 c.27_28insA p.G10fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM275434 HDAC9 c.1988G>A p.R663Q Substitution - Missense Pancreas COSM273473 WHSC1 c.2028G>A p.P676P Substitution - coding silent Large_intestine COSM315862 TDRKH c.920A>T p.Y307F Substitution - Missense Lung COSM307435 FTO c.453C>G p.I151M Substitution - Missense Kidney COSM341088 NCOR1 c.1839G>A p.P613P Substitution - coding silent Large_intestine COSM342371 DIDO1 c.2511G>C p.L837F Substitution - Missense Breast COSM376248 MBD6 c.1532C>T p.P511L Substitution - Missense Lung COSM377760 KIAA1045 c.1174G>T p.A392S Substitution - Missense Lung COSM385508 MLL5 c.1843G>A p.E615K Substitution - Missense Lung COSM396919 TP53BP1 c.5497G>A p.D1833N Substitution - Missense Lung COSM416797 MORF4L1 c.946A>T p.T316S Substitution - Missense Urinary_tract COSM436683 HDAC5 c.622C>T p.P208S Substitution - Missense Breast COSM430522 HNF1A c.79A>C p.I27L Substitution - Missense Liver COSM484586 MLL5 c.5037A>C p.P1679P Substitution - coding silent Pleura COSM485782 TRRAP c.353T>C p.F118S Substitution - Missense Kidney COSM486575 CHD7 c.7892G>A p.R2631Q Substitution - Missense Kidney COSM742334 DAXX c.749G>A p.G250D Substitution - Missense Lung COSM703258 SRCAP c.3925G>C p.V1309L Substitution - Missense Lung COSM719536 IDH1 c.1077G>T p.L359F Substitution - Missense Lung COSM1008149 BAZ2B c.5018T>C p.V1673A Substitution - Missense Endometrium COSM961529 MGA c.6799G>T p.E2267* Substitution - Nonsense Endometrium COSM971420 CHD9 c.3061A>G p.K1021E Substitution - Missense Endometrium COSM1067064 PRDM9 c.394G>C p.E132Q Substitution - Missense Endometrium COSM1602492 RAD54L c.2243G>T p.*748L Nonstop extension Liver COSM1125830 BRWD3 c.3718C>T p.R1240* Substitution - Nonsense Skin COSM1087633 KMT2C c.3249C>T p.S1083S Substitution - coding silent Endometrium COSM1228427 TAF1L c.5455G>T p.E1819* Substitution - Nonsense Large_intestine COSM1200994 CHD6 c.2428C>T p.R810C Substitution - Missense Large_intestine COSM1184390 KMT2C c.8650C>T p.R2884* Substitution - Nonsense Biliary_tract COSM1220353 PHF2 c.854G>A p.R285Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1299444 KMT2D c.4076C>G p.S1359* Substitution - Nonsense Urinary_tract COSM1316916 CREBBP c.4414T>G p.W1472G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1371551 SMEK1 c.1132C>T p.R378* Substitution - Nonsense Large_intestine COSM1377832 CREBBP c.4213G>A p.V1405M Substitution - Missense Large_intestine COSM1378185 BRD7 c.1867G>A p.V623I Substitution - Missense Large_intestine COSM1336719 TDRD5 c.2209G>A p.D737N Substitution - Missense Large_intestine COSM1472217 PHF8 c.988T>G p.F330V Substitution - Missense Prostate COSM1614216 IDH1 c.623A>G p.Y208C Substitution - Missense Liver COSM1616122 DNMT3L c.593A>G p.D198G Substitution - Missense Liver COSM1582125 KDM2B c.1724G>A p.R575H Substitution - Missense Stomach COSM1667419 MEAF6 c.517A>C p.N173H Substitution - Missense Large_intestine COSM1667518 DMAP1 c.958G>A p.V320I Substitution - Missense Large_intestine COSM1658810 ARID1B c.4390delG p.G1464fs*12 Deletion - Frameshift Salivary_gland COSM1695293 ING2 c.116_117CC>TT p.P39L Substitution - Missense Skin COSM1753006 MECOM c.1264G>C p.E422Q Substitution - Missense Urinary_tract COSM1741884 CREBBP c.3251-4G>A p.? Unknown Urinary_tract COSM1750352 ZBTB4 c.761C>T p.A254V Substitution - Missense Urinary_tract COSM1733121 L3MBTL3 c.1451T>G p.V484G Substitution - Missense Pancreas COSM2157406 PRDM15 c.3689G>A p.C1230Y Substitution - Missense Central_nervous_system COSM2098420 CHD4 c.3909T>A p.I1303I Substitution - coding silent Upper_aerodigestive_tract COSM2209487 PYGO2 c.194delC p.P65fs*96 Deletion - Frameshift Large_intestine COSM2834867 CHD9 c.2881C>T p.R961C Substitution - Missense Large_intestine COSM2848365 GABRG1 c.1304G>A p.R435H Substitution - Missense Stomach COSM2848379 GABRG1 c.921C>T p.I307I Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM2861158 JHDM1D c.233A>G p.D78G Substitution - Missense Large_intestine COSM2911773 DNMT3A c.1992G>T p.E664D Substitution - Missense Stomach COSM2930840 C20orf20 c.428-10C>T p.? Unknown Biliary_tract COSM3186004 MSH6 c.2038G>A p.A680T Substitution - Missense Large_intestine COSM3205534 TBL1XR1 c.971_973delCTT p.S324delS Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM3403535 SETBP1 c.542C>G p.A181G Substitution - Missense Central_nervous_system COSM3488191 PRDM16 c.870C>T p.F290F Substitution - coding silent Stomach COSM3642788 TRRAP c.5646C>T p.I1882I Substitution - coding silent Skin COSM3631660 MLL5 c.5155C>T p.P1719S Substitution - Missense Skin COSM3627961 TDRD6 c.4433C>T p.A1478V Substitution - Missense Skin COSM3578861 SP110 c.1830C>T p.L610L Substitution - coding silent Skin COSM3555275 PHF21B c.236C>T p.P79L Substitution - Missense Skin COSM3537032 KDM4B c.396C>T p.I132I Substitution - coding silent Skin COSM3694442 MECP2 c.1330G>A p.A444T Substitution - Missense Large_intestine COSM3672977 PRMT1 c.443C>G p.S148C Substitution - Missense Prostate COSM3722551 KMT2D c.6669G>T p.G2223G Substitution - coding silent Soft_tissue COSM3730600 SP100 c.1858C>T p.R620* Substitution - Nonsense Stomach COSM3723036 PHF21B c.744G>A p.S248S Substitution - coding silent Bone COSM3715051 NSD1 c.5732G>T p.C1911F Substitution - Missense Upper_aerodigestive_tract COSM3741635 ZMYND11 c.1107+5G>A p.? Unknown Liver COSM3935380 PRDM10 c.2806C>T p.Q936* Substitution - Nonsense Oesophagus COSM3876910 MLL5 c.4810G>C p.V1604L Substitution - Missense Stomach COSM4021110 TTF2 c.2103G>T p.K701N Substitution - Missense Stomach COSM4049847 CHD8 c.4405C>T p.R1469C Substitution - Missense Stomach COSM4047972 PHF11 c.576C>T p.P192P Substitution - coding silent Stomach COSM4043887 MBD6 c.1453C>A p.P485T Substitution - Missense Stomach COSM4085895 BAZ2B c.593G>A p.G198E Substitution - Missense Stomach COSM4099077 ZMYND8 c.1652A>T p.E551V Substitution - Missense Stomach COSM4107961 HCFC1 c.3926C>T p.A1309V Substitution - Missense Stomach COSM4072236 SETBP1 c.2093C>A p.T698N Substitution - Missense Stomach COSM4136943 ZMYND8 c.261C>T p.Y87Y Substitution - coding silent Ovary COSM4161998 KMT2C c.2726G>A p.R909K Substitution - Missense Thyroid COSM4379314 KDM6A c.2683G>T p.E895* Substitution - Nonsense Upper_aerodigestive_tract COSM4417217 ARID4A c.3188A>G p.Q1063R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4505036 KMT2A c.681C>T p.T227T Substitution - coding silent Skin COSM4563609 SP110 c.963G>A p.K321K Substitution - coding silent Skin COSM4488843 NCOA6 c.3396C>T p.L1132L Substitution - coding silent Skin COSM4543667 ZCWPW2 c.341G>A p.G114E Substitution - Missense Skin COSM4487471 ASXL3 c.2314C>T p.R772W Substitution - Missense Skin COSM4434568 RAG2 c.726G>T p.L242L Substitution - coding silent Oesophagus COSM4462538 EZH2 c.1250C>T p.S417F Substitution - Missense Upper_aerodigestive_tract COSM4411013 PBRM1 c.2354T>G p.L785R Substitution - Missense Kidney COSM4672075 CHD6 c.1190A>G p.H397R Substitution - Missense Large_intestine COSM4689199 GTF3C4 c.454A>G p.N152D Substitution - Missense Large_intestine COSM4698234 LMNB1 c.1065A>T p.Q355H Substitution - Missense Large_intestine COSM4616000 SMEK2 c.1378_1379insA p.S460fs*2 Insertion - Frameshift Large_intestine COSM4614974 ZCWPW1 c.1041delT p.F347fs*14 Deletion - Frameshift Large_intestine COSM4615095 RAD54L c.2152delG p.E718fs*>30 Deletion - Frameshift Large_intestine COSM4615646 ASXL1 c.1934_1935delGT p.G646fs*11 Deletion - Frameshift Large_intestine COSM4630359 KDM6B c.2951G>A p.R984Q Substitution - Missense Large_intestine COSM4802623 CHD7 c.3539C>T p.A1180V Substitution - Missense Liver COSM4928219 TAF1 c.3520G>A p.E1174K Substitution - Missense Liver COSM4917901 BRDT c.346G>T p.V116F Substitution - Missense Liver COSM4916999 PHF10 c.639A>T p.S213S Substitution - coding silent Liver COSM4852137 KDM2B c.1699G>A p.E567K Substitution - Missense Cervix COSM4982476 SRCAP c.1585G>A p.E529K Substitution - Missense Skin COSM5033190 ING3 c.84G>A p.M28I Substitution - Missense Oesophagus COSM5024935 ASXL1 c.370G>A p.D124N Substitution - Missense Breast COSM5047562 EP300 c.3778_3780delCTT p.L1260delL Deletion - In frame Oesophagus COSM5347045 ARID1A c.6632G>A p.S2211N Substitution - Missense Endometrium COSM5348215 ARID2 c.867delT p.I289fs*3 Deletion - Frameshift Liver COSM5415056 EP300 c.6163_6164insC p.L2055fs*18 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5467973 KMT2D c.13226C>T p.A4409V Substitution - Missense Large_intestine COSM5756730 HDAC2 c.577C>T p.R193C Substitution - Missense Large_intestine COSM5718116 EYA2 c.491C>T p.P164L Substitution - Missense Skin COSM5721817 KMT2A c.4522G>A p.E1508K Substitution - Missense Skin COSM5611318 KDM6A c.334_334+1GG>AA p.? Unknown Skin COSM5618658 RAD54L c.2190C>T p.A730A Substitution - coding silent Breast COSM5817998 MINA c.15A>G p.A5A Substitution - coding silent Liver COSM5882946 CHD3 c.1336G>A p.E446K Substitution - Missense Skin COSM5910461 NSD1 c.2428T>A p.C810S Substitution - Missense Skin COSM5972599 SETBP1 c.3956T>C p.M1319T Substitution - Missense Upper_aerodigestive_tract COSM5985511 TET2 c.368_369insT p.N124fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5996226 NIPBL c.449G>T p.S150I Substitution - Missense Prostate COSM6004399 CHD6 c.3403C>T p.R1135C Substitution - Missense Prostate COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM3738490 TET2 c.? p.L1120* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3738471 TET2 c.? p.R1366L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1386956 CBX4 c.1523_1524insGGCGGC p.A510_P511insAA Insertion - In frame Large_intestine COSM1583148 DNMT3A c.2486A>T p.K829I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3740568 TTF2 c.3273T>C p.N1091N Substitution - coding silent Liver COSM1616548 PHF21B c.1302G>T p.L434L Substitution - coding silent Liver COSM3846713 PHC3 c.2820C>G p.L940L Substitution - coding silent Breast COSM2080116 ZMYM1 c.1807C>T p.R603* Substitution - Nonsense Large_intestine COSM5366372 EP300 c.6912_6915delCAAT p.N2305fs*47 Deletion - Frameshift Large_intestine COSM6003792 KDM4B c.2558T>C p.V853A Substitution - Missense Prostate COSM122921 EYA1 c.950C>A p.P317Q Substitution - Missense Upper_aerodigestive_tract COSM110762 TET2 c.2488_2489insA p.I830fs*16 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM729704 FXR1 c.1282G>A p.D428N Substitution - Missense Skin COSM1370228 ARID4A c.1258_1259insA p.D423fs*24 Insertion - Frameshift Large_intestine COSM5608367 EP300 c.4712C>T p.P1571L Substitution - Missense Skin COSM3703531 SMARCA2 c.4611G>A p.V1537V Substitution - coding silent Liver COSM5667487 NCOR1 c.732+2T>A p.? Unknown Soft_tissue COSM5019040 ERCC6 c.1196G>A p.G399D Substitution - Missense Soft_tissue COSM4045331 PHC1 c.2895G>T p.Q965H Substitution - Missense Stomach COSM26610 NIPBL c.5250T>C p.Y1750Y Substitution - coding silent Kidney COSM3522197 ZBTB4 c.3002G>A p.R1001K Substitution - Missense Skin COSM5347548 MYST3 c.3077_3087del11 p.R1026fs*2 Deletion - Frameshift Liver COSM2965457 KDM6A c.3666A>T p.A1222A Substitution - coding silent Upper_aerodigestive_tract COSM41644 TET2 c.1648C>T p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1158936 SUV420H1 c.2418T>C p.L806L Substitution - coding silent Pancreas COSM380934 DNMT1 c.1266C>T p.I422I Substitution - coding silent Lung COSM4793125 MECOM c.1893A>T p.R631S Substitution - Missense Liver COSM5488673 TAF1L c.5284G>A p.E1762K Substitution - Missense Skin COSM5720515 NSD1 c.6635C>T p.P2212L Substitution - Missense Skin COSM1099601 WHSC1L1 c.701T>C p.V234A Substitution - Missense Endometrium COSM5030109 ATRX c.1013C>T p.S338F Substitution - Missense Bone COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Breast COSM373626 SMYD1 c.550C>G p.L184V Substitution - Missense Lung COSM4836594 MYST3 c.2992C>T p.R998W Substitution - Missense Cervix COSM1318943 DNMT3A c.2409G>C p.R803S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM12803 BRDT c.862C>T p.H288Y Substitution - Missense Lung COSM4471264 SRCAP c.1709C>T p.P570L Substitution - Missense Skin COSM5021467 PRDM9 c.2463A>T p.R821S Substitution - Missense Bone COSM4990250 KMT2D c.8362G>A p.D2788N Substitution - Missense Skin COSM4054836 TP53BP1 c.3902A>C p.D1301A Substitution - Missense Stomach COSM2156956 BAP1 c.227T>C p.I76T Substitution - Missense Central_nervous_system COSM4877295 MBD1 c.1508C>T p.A503V Substitution - Missense Prostate COSM5664118 MUM1 c.940G>T p.A314S Substitution - Missense Soft_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM1711829 SMARCA4 c.2620C>T p.R874C Substitution - Missense Skin COSM2061643 KDM4D c.972C>T p.F324F Substitution - coding silent Stomach COSM3844852 HDAC6 c.857A>C p.H286P Substitution - Missense Breast COSM4169520 TET2 c.? p.Y1255fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM4453465 ADNP c.2996A>C p.E999A Substitution - Missense Skin COSM249685 NCOR1 c.448G>A p.G150R Substitution - Missense Kidney COSM1106568 WDR5 c.649G>A p.V217M Substitution - Missense Endometrium COSM5352966 ASH1L c.7745G>A p.R2582H Substitution - Missense Large_intestine COSM79343 CHD8 c.3952G>T p.E1318* Substitution - Nonsense Ovary COSM5816315 CDYL2 c.1286C>T p.S429L Substitution - Missense Liver COSM753627 TAF1L c.514G>A p.D172N Substitution - Missense Lung COSM940062 KMT2D c.4335G>A p.A1445A Substitution - coding silent Cervix COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1738321 RAI1 c.825C>G p.S275R Substitution - Missense Ovary COSM1123030 SMC1A c.2131C>T p.R711W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3804267 ACTA1 c.522G>A p.P174P Substitution - coding silent Breast COSM1737944 TET2 c.2604_2604delT p.P869fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4952623 GTF3C4 c.1413G>T p.V471V Substitution - coding silent Liver COSM270204 AP001011.3_ENST00000320876 c.4251G>A p.L1417L Substitution - coding silent Large_intestine COSM129509 SUV39H1 c.1114G>A p.V372M Substitution - Missense Upper_aerodigestive_tract COSM3938303 SUV420H2 c.306G>A p.P102P Substitution - coding silent Oesophagus COSM4159839 PRDM9 c.2042C>G p.T681S Substitution - Missense Upper_aerodigestive_tract COSM1720120 PRDM9 c.1145-1G>A p.? Unknown Skin COSM4451555 ERCC6 c.1282C>T p.P428S Substitution - Missense Skin COSM3855041 NIPBL c.5573T>C p.L1858S Substitution - Missense Stomach COSM4777873 SETD5_ENST00000402198 c.2283_2284insC p.F762fs*4 Insertion - Frameshift Prostate COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM1099955 MYST3 c.1437G>T p.E479D Substitution - Missense Endometrium COSM3488884 ZMYM4 c.1693T>C p.Y565H Substitution - Missense Skin COSM4063038 CDYL2 c.1390C>T p.R464W Substitution - Missense Stomach COSM1630066 NCOR1 c.515C>T p.S172L Substitution - Missense Central_nervous_system COSM4606669 SRCAP c.5303T>C p.L1768P Substitution - Missense Adrenal_gland COSM4064265 SMYD4 c.2175T>C p.S725S Substitution - coding silent Stomach COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3365413 PBRM1 c.238A>T p.N80Y Substitution - Missense Kidney COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM920529 KAT6B c.2910G>A p.K970K Substitution - coding silent Endometrium COSM1634549 SHPRH c.1061+2T>G p.? Unknown Liver COSM1096259 PHF20L1 c.426G>A p.G142G Substitution - coding silent Endometrium COSM254810 KMT2A c.4368C>A p.H1456Q Substitution - Missense Urinary_tract COSM1716174 EZH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4659173 ACTR5 c.1058C>A p.S353Y Substitution - Missense Large_intestine COSM233368 SIRT2 c.697G>A p.V233I Substitution - Missense Lung COSM249384 BAP1 c.1259_1260insTAGGG p.K421fs*11 Insertion - Frameshift Kidney COSM264146 TP53BP1 c.2300G>T p.R767I Substitution - Missense Large_intestine COSM1475421 ALKBH3 c.718G>A p.D240N Substitution - Missense Breast COSM5014526 PHF15 c.98T>C p.L33P Substitution - Missense Kidney COSM2236595 EYA3 c.895G>T p.D299Y Substitution - Missense Large_intestine COSM168257 KDM1A c.852C>T p.F284F Substitution - coding silent Endometrium COSM4070282 KDM6B c.917G>A p.R306Q Substitution - Missense Stomach COSM4705934 NCOA1 c.485_486insG p.D164fs*29 Insertion - Frameshift Large_intestine COSM4440740 CHD6 c.8064C>T p.P2688P Substitution - coding silent Bone COSM4606290 KMT2D c.13190-3C>G p.? Unknown Upper_aerodigestive_tract COSM3710287 PRDM2 c.5074G>A p.A1692T Substitution - Missense Upper_aerodigestive_tract COSM4796743 BAZ2A_ENST00000379441 c.2281G>A p.G761R Substitution - Missense Liver COSM958209 ALKBH1 c.612C>T p.A204A Substitution - coding silent Endometrium COSM1664112 SETD2 c.2141G>A p.W714* Substitution - Nonsense Kidney COSM5380523 ARID1A c.6788T>C p.V2263A Substitution - Missense Skin COSM5647657 KAT2B c.461C>G p.S154* Substitution - Nonsense Oesophagus COSM1191041 ELP3 c.1142_1143insAGTGG p.N382fs*4 Insertion - Frameshift Lung COSM240631 MECP2 c.1047C>A p.S349R Substitution - Missense Prostate COSM1725312 KDM3A c.2426G>A p.S809N Substitution - Missense Liver COSM3911514 ZMYND8 c.2299C>T p.P767S Substitution - Missense Skin COSM5653242 KAT2B c.1768A>T p.M590L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1186022 MBD5 c.1846G>A p.G616R Substitution - Missense Lung COSM3780037 KIAA2026_ENST00000399933 c.2234A>C p.K745T Substitution - Missense Urinary_tract COSM4748608 WHSC1 c.3430T>G p.C1144G Substitution - Missense Stomach COSM1189865 DNMT1 c.1915G>T p.D639Y Substitution - Missense Lung COSM1482976 NCOA1 c.4321G>A p.E1441K Substitution - Missense Breast COSM1041692 FXR1 c.569G>A p.R190Q Substitution - Missense Stomach COSM5566138 SMYD1 c.1384C>T p.R462C Substitution - Missense Prostate COSM1377530 SETD1A c.2115delC p.G708fs*95 Deletion - Frameshift Large_intestine COSM4169919 ARID1A c.2608C>A p.P870T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5706110 SRCAP c.2504C>T p.P835L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1368981 CHD8 c.5875G>A p.A1959T Substitution - Missense Large_intestine COSM3160320 PHF3 c.4464G>A p.M1488I Substitution - Missense Upper_aerodigestive_tract COSM694438 BAZ2A c.1598C>T p.P533L Substitution - Missense Lung COSM5172819 EHMT2 c.2119-7C>A p.? Unknown Large_intestine COSM4549005 CREBBP c.4627G>A p.D1543N Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4393845 TRIM24 c.1191C>T p.S397S Substitution - coding silent Skin COSM278724 AICDA c.538C>A p.L180I Substitution - Missense Oesophagus COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM937151 EP400 c.2659G>A p.A887T Substitution - Missense Endometrium COSM5475977 BAHCC1 c.6522G>A p.P2174P Substitution - coding silent Large_intestine COSM4016853 HELLS c.193T>C p.Y65H Substitution - Missense Stomach COSM5606646 JHDM1D c.784C>T p.P262S Substitution - Missense Skin COSM4185714 GTF3C1 c.5602A>G p.S1868G Substitution - Missense Salivary_gland COSM900309 TDRD5 c.2745C>T p.S915S Substitution - coding silent Endometrium COSM5657497 ASXL3 c.2482T>A p.F828I Substitution - Missense Soft_tissue COSM3765305 PHF14 c.1045+2T>C p.? Unknown Central_nervous_system COSM3363250 CHD6 c.1971G>A p.E657E Substitution - coding silent Kidney COSM3660039 UTY c.3659T>G p.L1220R Substitution - Missense Liver COSM285940 TRIM33 c.2593C>T p.R865* Substitution - Nonsense Large_intestine COSM43457 TET2 c.3508C>T p.Q1170* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3656504 SMARCA2 c.2445C>T p.V815V Substitution - coding silent Skin COSM76524 SMARCA4 c.2441C>A p.T814K Substitution - Missense Breast COSM3594175 SETMAR c.982C>T p.P328S Substitution - Missense Skin COSM4003461 NSD1 c.6829T>C p.L2277L Substitution - coding silent Soft_tissue COSM3923304 HDAC9 c.105C>T p.P35P Substitution - coding silent Skin COSM3013857 PRDM9 c.2285A>T p.H762L Substitution - Missense Upper_aerodigestive_tract COSM4489476 POGZ c.3480C>T p.V1160V Substitution - coding silent Skin COSM392468 HDAC2 c.1375_1376insA p.T459fs*4 Insertion - Frameshift Upper_aerodigestive_tract COSM5944379 ASXL1 c.2401_2405delGAGGA p.E801fs*19 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5698699 TAF1 c.216delG p.L74fs*4 Deletion - Frameshift Soft_tissue COSM2078148 RBBP4 c.164G>T p.R55I Substitution - Missense Large_intestine COSM5724035 BTAF1 c.1257C>T p.V419V Substitution - coding silent Skin COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5575881 KAT6B c.1355G>A p.R452Q Substitution - Missense Stomach COSM4003461 NSD1 c.6829T>C p.L2277L Substitution - coding silent Soft_tissue COSM2828822 SETD5_ENST00000402198 c.2687C>T p.T896I Substitution - Missense Soft_tissue COSM3742610 ASXL3 c.1482C>T p.S494S Substitution - coding silent Liver COSM256035 DNMT3A c.1648G>A p.G550R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2078417 PRDM16 c.1976C>T p.P659L Substitution - Missense Skin COSM4042409 KMT2D c.1792C>T p.R598C Substitution - Missense Stomach COSM4766130 TET2 c.3894_3895insT p.K1299fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4441606 HCFC2 c.1121A>G p.H374R Substitution - Missense Large_intestine COSM147595 TDG c.510G>A p.E170E Substitution - coding silent Central_nervous_system COSM5550779 BAP1 c.283G>A p.A95T Substitution - Missense Prostate COSM5773724 ZMYM4 c.4081G>A p.E1361K Substitution - Missense Breast COSM213290 NSD1 c.7900G>T p.A2634S Substitution - Missense Breast COSM3555059 TCF20 c.8C>T p.S3F Substitution - Missense Skin COSM127550 CBX6 c.735G>T p.P245P Substitution - coding silent Lung COSM203615 SMARCA1 c.386G>A p.R129Q Substitution - Missense Endometrium COSM1107895 SMARCA2 c.4500G>A p.K1500K Substitution - coding silent Endometrium COSM1602234 PHC2 c.2533G>A p.A845T Substitution - Missense Liver COSM4789052 BRD1 c.1064C>T p.A355V Substitution - Missense Liver COSM4545319 AICDA c.375G>A p.G125G Substitution - coding silent Skin COSM976133 RAI1 c.5237C>T p.A1746V Substitution - Missense Endometrium COSM3926739 KIAA1045 c.736G>A p.E246K Substitution - Missense Skin COSM1745400 KDM6A c.3276delT p.D1092fs*12 Deletion - Frameshift Urinary_tract COSM1720389 SETD2 c.5204C>T p.S1735F Substitution - Missense Prostate COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4466124 JHDM1D c.1417C>T p.R473* Substitution - Nonsense Skin COSM3488189 PRDM16 c.787G>A p.G263S Substitution - Missense Skin COSM3890961 ASXL3 c.368C>T p.P123L Substitution - Missense Skin COSM4001258 BAZ2B c.2520A>C p.A840A Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5723567 CAMKMT c.129C>T p.L43L Substitution - coding silent Skin COSM239926 FTO c.1198delA p.M400fs*14 Deletion - Frameshift Prostate COSM450263 PRDM1 c.1494C>A p.T498T Substitution - coding silent Breast COSM443340 SMYD1 c.337C>A p.R113R Substitution - coding silent Thyroid COSM260532 DNMT3B c.97G>A p.D33N Substitution - Missense Large_intestine COSM4714028 PHF8 c.2226C>T p.S742S Substitution - coding silent Large_intestine COSM3113552 SETD1A c.2987C>A p.T996N Substitution - Missense Large_intestine COSM98243 TRRAP c.4820G>A p.R1607H Substitution - Missense Upper_aerodigestive_tract COSM1744615 TIF1 c.903T>C p.N301N Substitution - coding silent Biliary_tract COSM5687958 PRDM5 c.365G>C p.G122A Substitution - Missense Soft_tissue COSM1041421 TBL1XR1 c.467A>G p.E156G Substitution - Missense Endometrium COSM4985386 HDAC9 c.416-2A>T p.? Unknown Soft_tissue COSM4742947 ZMYND11 c.103G>T p.G35C Substitution - Missense Large_intestine COSM4850489 MBD6 c.1031G>A p.R344Q Substitution - Missense Oesophagus COSM1675575 TDRD1 c.1620T>G p.F540L Substitution - Missense Large_intestine COSM231858 BRWD3 c.652C>T p.L218F Substitution - Missense Skin COSM5817931 ATRX c.5669A>T p.Q1890L Substitution - Missense Liver COSM5364079 NCOR1 c.6299G>A p.R2100H Substitution - Missense Large_intestine COSM88760 CREBBP c.3517C>T p.R1173* Substitution - Nonsense Urinary_tract COSM5924374 PRDM9 c.80C>T p.A27V Substitution - Missense Skin COSM97133 HNF1A c.834_835ins35 p.H279fs*75 Insertion - Frameshift Liver COSM4018323 KMT2A c.7108C>A p.L2370I Substitution - Missense Stomach COSM4147295 SMARCC2 c.3243G>T p.L1081F Substitution - Missense Thyroid COSM3473687 POGZ c.723C>T p.V241V Substitution - coding silent Skin COSM3819663 EZH1 c.2072C>T p.S691L Substitution - Missense Breast COSM3800236 TCF20 c.3542C>T p.S1181F Substitution - Missense Urinary_tract COSM3906510 SMARCA2 c.576G>A p.L192L Substitution - coding silent Stomach COSM5822836 CHD6 c.1943A>T p.Q648L Substitution - Missense Liver COSM696349 TDRD3 c.976A>G p.R326G Substitution - Missense Lung COSM2066293 KDM5A c.4048C>T p.R1350* Substitution - Nonsense Large_intestine COSM3291690 CHD6 c.3499G>A p.A1167T Substitution - Missense Skin COSM5508600 BAP1 c.438-5C>T p.? Unknown Biliary_tract COSM1732252 BRWD3 c.488C>T p.P163L Substitution - Missense Bone COSM249346 PRDM16 c.3250G>T p.E1084* Substitution - Nonsense Kidney COSM4065388 SUZ12 c.1723C>T p.R575C Substitution - Missense Stomach COSM4950810 PHF21A c.702G>A p.Q234Q Substitution - coding silent Liver COSM1755006 MLL5 c.653C>T p.S218L Substitution - Missense Urinary_tract COSM3702365 TBL1XR1 c.1128G>T p.W376C Substitution - Missense Liver COSM3291728 CHD6 c.1704C>T p.F568F Substitution - coding silent Large_intestine COSM1377526 SETD1A c.801C>A p.S267S Substitution - coding silent Large_intestine COSM4633340 ASH1L c.4275C>A p.S1425S Substitution - coding silent Large_intestine COSM3080626 ACTL6B c.611G>A p.R204Q Substitution - Missense Large_intestine COSM6002003 SRCAP c.7285T>A p.C2429S Substitution - Missense Prostate COSM5124054 CHD9 c.4282delA p.K1429fs*4 Deletion - Frameshift Large_intestine COSM3525456 ASXL3 c.2213C>T p.S738F Substitution - Missense Skin COSM5036705 ELP3 c.147T>C p.Y49Y Substitution - coding silent Oesophagus COSM5364000 PHF12 c.2726C>T p.A909V Substitution - Missense Large_intestine COSM5501653 HCFC2 c.24C>G p.N8K Substitution - Missense Biliary_tract COSM1479623 HDAC5 c.1265C>T p.S422F Substitution - Missense Breast COSM1124891 TAF1 c.2548G>A p.A850T Substitution - Missense Endometrium COSM5368799 JHDM1D c.1600delG p.E534fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3765997 NCOR1 c.4153-5T>A p.? Unknown Skin COSM1180918 ASXL1 c.1927delG p.G645fs*58 Deletion - Frameshift Pancreas COSM4603245 PCGF6 c.84_85insGCCTCC p.P28_V29insAS Insertion - In frame Upper_aerodigestive_tract COSM366505 NIPBL c.5600G>C p.R1867T Substitution - Missense Lung COSM53107 TET2 c.? p.P1937S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6018835 HCFC1 c.2850G>T p.Q950H Substitution - Missense Skin COSM3674882 KMT2C c.993T>A p.I331I Substitution - coding silent Prostate COSM1495589 PBRM1 c.3394G>T p.E1132* Substitution - Nonsense Kidney COSM1106543 BRD3 c.1417G>A p.V473M Substitution - Missense Endometrium COSM3509893 GLYR1 c.1157C>T p.P386L Substitution - Missense Skin COSM5070812 SMARCD3 c.541-9C>A p.? Unknown Large_intestine COSM3619629 HDAC2 c.81G>A p.Q27Q Substitution - coding silent Skin COSM274975 EP300 c.1739G>A p.R580Q Substitution - Missense Large_intestine COSM4146393 TRIM66 c.2688C>A p.I896I Substitution - coding silent Thyroid COSM133736 DNMT3A c.1792C>T p.R598* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4383535 DNMT3A c.2284G>T p.G762C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1162578 ARID1A c.6270C>G p.H2090Q Substitution - Missense Pancreas COSM3551336 AIRE c.852C>T p.A284A Substitution - coding silent Skin COSM13394 MSH6 c.3261_3262insC p.F1088fs*5 Insertion - Frameshift Stomach COSM1107898 SMARCA2 c.4760C>T p.T1587M Substitution - Missense Endometrium COSM4766073 DNMT3A c.177_178insC p.V60fs*5 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3368884 SMARCC2 c.1336C>G p.L446V Substitution - Missense Thyroid COSM5985383 SRCAP c.2345T>G p.L782R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM21474 HNF1A c.710A>G p.N237S Substitution - Missense Liver COSM4478159 KDM3A c.2215C>T p.H739Y Substitution - Missense Skin COSM902721 RBBP5 c.1617A>C p.*539C Nonstop extension Endometrium COSM5644147 MBD1 c.111-1G>T p.? Unknown Oesophagus COSM5408775 ATAD2 c.3873G>A p.M1291I Substitution - Missense Skin COSM51442 ARID1A c.5566C>T p.Q1856* Substitution - Nonsense Ovary COSM211613 TET2 c.2626C>T p.Q876* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4942056 MECOM c.379A>T p.S127C Substitution - Missense Liver COSM5752694 ARID1A c.1602C>A p.Y534* Substitution - Nonsense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM444466 BRWD1 c.5591G>A p.G1864E Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM138478 NIPBL c.3451C>T p.P1151S Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM21477 HNF1A c.817A>G p.K273E Substitution - Missense Breast COSM1675891 PRMT3 c.275T>C p.L92P Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM139317 GATAD2B c.1123C>T p.P375S Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3749492 DOT1L c.4156G>A p.G1386S Substitution - Missense Large_intestine COSM4080513 KDM4B c.1992G>A p.A664A Substitution - coding silent Stomach COSM989 SMARCB1 c.1130G>A p.R377H Substitution - Missense Meninges COSM1381122 NCOR1 c.6122A>G p.Q2041R Substitution - Missense Large_intestine COSM941783 BAZ2A_ENST00000379441 c.1366G>A p.A456T Substitution - Missense Endometrium COSM1489368 CHD7 c.8382T>A p.A2794A Substitution - coding silent Breast COSM294064 TDRKH c.468C>T p.A156A Substitution - coding silent Large_intestine COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM1312083 PHF1 c.88C>T p.R30W Substitution - Missense Urinary_tract COSM429386 PHRF1 c.3044_3055del12 p.G1019_S1022delGTRS Deletion - In frame Large_intestine COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM4732668 TCF20 c.3083delG p.G1028fs*6 Deletion - Frameshift Large_intestine COSM1241005 CHD3 c.613T>C p.S205P Substitution - Missense Oesophagus COSM1606210 KMT2D c.4067C>A p.S1356Y Substitution - Missense Liver COSM932204 RSF1 c.1451G>A p.G484E Substitution - Missense Endometrium COSM2909175 HDAC4 c.592G>A p.D198N Substitution - Missense Skin COSM3414568 ASH1L c.6104-8_6104-7insT p.? Unknown Large_intestine COSM1743614 KDM2B c.409C>T p.P137S Substitution - Missense Biliary_tract COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM5916190 CHD4 c.4660C>T p.P1554S Substitution - Missense Skin COSM1290379 MGA c.2745T>A p.Y915* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM913366 MTF2 c.976G>T p.D326Y Substitution - Missense Endometrium COSM990435 DNMT1 c.4358G>T p.R1453M Substitution - Missense Endometrium COSM4829943 KMT2C c.7261C>T p.Q2421* Substitution - Nonsense Cervix COSM4389056 CHD6 c.4105G>A p.E1369K Substitution - Missense Pancreas COSM1352564 PRDM10 c.2487C>T p.P829P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM132968 ASXL1 c.? p.E635fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM1738014 ASXL1 c.1720-1G>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4666315 BTAF1 c.5324C>T p.A1775V Substitution - Missense Large_intestine COSM5582227 PRDM1 c.896C>T p.P299L Substitution - Missense Skin COSM741076 PHF10 c.570A>T p.P190P Substitution - coding silent Lung COSM370724 RSF1 c.3435C>T p.S1145S Substitution - coding silent Lung COSM43511 TET2 c.4679_4680insA p.Y1560fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1125424 ATRX c.5024A>G p.D1675G Substitution - Missense Endometrium COSM5092196 ATF2 c.1292-4C>A p.? Unknown Large_intestine COSM5738335 MYST3 c.1262C>A p.P421H Substitution - Missense Small_intestine COSM4702385 KMT2A c.4016C>A p.P1339Q Substitution - Missense Large_intestine COSM252836 SMEK2 c.1852C>T p.R618C Substitution - Missense Ovary COSM3949580 ACTL6B c.43G>A p.V15I Substitution - Missense Lung COSM3820856 CHD3 c.1752G>T p.K584N Substitution - Missense Breast COSM5775517 PRDM5 c.262G>A p.A88T Substitution - Missense Breast COSM5996705 ARID1B c.4698G>A p.M1566I Substitution - Missense Prostate COSM3583859 SMYD1 c.182A>G p.K61R Substitution - Missense Skin COSM5784226 SMARCA2 c.1178G>C p.R393T Substitution - Missense Breast COSM5921850 L3MBTL2 c.719-8C>T p.? Unknown Skin COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Endometrium COSM29382 SMARCB1 c.1143delG p.A382fs*5 Deletion - Frameshift Central_nervous_system COSM43499 TET2 c.5693C>T p.S1898F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51420 ARID1A c.5540_5541insG p.G1848fs*6 Insertion - Frameshift Endometrium COSM51446 ARID1A c.1177C>T p.Q393* Substitution - Nonsense Urinary_tract COSM53017 EZH2 c.444_445insGAA p.E148_L149insE Insertion - In frame Haematopoietic_and_lymphoid_tissue COSM81385 PRMT10 c.471T>A p.L157L Substitution - coding silent Ovary COSM78383 PYGO1 c.118C>T p.R40C Substitution - Missense Stomach COSM96511 EP300 c.3040G>T p.E1014* Substitution - Nonsense Large_intestine COSM94441 HDAC1 c.1291C>T p.R431C Substitution - Missense Lung COSM87089 TET2 c.1842_1842delG p.L615fs*24 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM87158 TET2 c.4102T>C p.F1368L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM112121 PRDM2 c.2104_2105insCTC p.P703_A704insP Insertion - In frame Central_nervous_system COSM97161 PRDM1 c.55_56ins10 p.E19fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM131054 RAD54L c.877G>C p.V293L Substitution - Missense Liver COSM231548 DNMT3A c.2409_2478del70 p.R803fs*5 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM221046 KMT2D c.3085C>T p.Q1029* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM221132 KMT2D c.15034C>T p.R5012* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM215749 SMARCA4 c.2461G>A p.E821K Substitution - Missense Central_nervous_system COSM224714 TRIM66 c.2492-1G>T p.? Unknown Skin COSM290448 CTCF c.71C>G p.T24S Substitution - Missense Large_intestine COSM346039 ATAD2 c.1552G>C p.D518H Substitution - Missense Lung COSM452152 PHF14 c.598C>T p.L200L Substitution - coding silent Breast COSM972483 CTCF c.1027T>C p.Y343H Substitution - Missense Endometrium COSM984758 JMJD6 c.548G>A p.G183E Substitution - Missense Endometrium COSM484586 MLL5 c.5037A>C p.P1679P Substitution - coding silent Lung COSM937176 EP400 c.6454G>A p.A2152T Substitution - Missense Endometrium COSM1023490 KDM3A c.561C>A p.D187E Substitution - Missense Upper_aerodigestive_tract COSM939976 KMT2D c.14735G>A p.G4912D Substitution - Missense Endometrium COSM745837 KMT2C c.1290G>C p.W430C Substitution - Missense Breast COSM1716784 TET2 c.3501-1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1008153 BAZ2B c.4205G>C p.S1402T Substitution - Missense Endometrium COSM1118767 SCML2 c.427A>G p.M143V Substitution - Missense Endometrium COSM1093630 TRRAP c.4850G>A p.R1617H Substitution - Missense Endometrium COSM1251619 EYA3 c.55G>T p.E19* Substitution - Nonsense Stomach COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1228426 TAF1L c.3313G>A p.D1105N Substitution - Missense Large_intestine COSM1201013 CHD8 c.4591C>T p.R1531C Substitution - Missense Large_intestine COSM1216519 MYST1 c.1217T>C p.V406A Substitution - Missense Large_intestine COSM1179207 TIF1 c.2400C>T p.N800N Substitution - coding silent Prostate COSM1605670 KDM2B c.2362C>A p.P788T Substitution - Missense Liver COSM1607138 PHF11 c.407C>A p.A136D Substitution - Missense Liver COSM1312087 PHF1 c.1583G>C p.G528A Substitution - Missense Urinary_tract COSM1314866 KIAA2026_ENST00000399933 c.241C>T p.Q81* Substitution - Nonsense Urinary_tract COSM1309964 WHSC1 c.787C>T p.H263Y Substitution - Missense Upper_aerodigestive_tract COSM1297834 PRDM10 c.424G>A p.E142K Substitution - Missense Urinary_tract COSM1318519 SUZ12 c.921_922delCT p.L308fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1322930 RNF17 c.881A>G p.E294G Substitution - Missense Ovary COSM1391082 BRD4 c.1584C>A p.L528L Substitution - coding silent Large_intestine COSM1339915 ACTA1 c.681C>T p.N227N Substitution - coding silent Large_intestine COSM1608493 PYGO1 c.521A>T p.Q174L Substitution - Missense Liver COSM1490071 KDM4C c.1439T>A p.I480K Substitution - Missense Breast COSM1612208 SIRT2 c.226+8C>T p.? Unknown Liver COSM1583422 SETDB1 c.3801C>T p.Y1267Y Substitution - coding silent Endometrium COSM1643195 MLL5 c.4998G>A p.S1666S Substitution - coding silent Stomach COSM1675370 KAT6B c.5965C>T p.L1989F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1703820 RAG2 c.865A>G p.I289V Substitution - Missense Skin COSM1728859 BRDT c.330+2T>A p.? Unknown Liver COSM1757015 DIDO1 c.4470G>C p.K1490N Substitution - Missense Urinary_tract COSM2006787 KMT2D c.12325C>T p.P4109S Substitution - Missense Skin COSM2152386 TP53BP1 c.1971G>A p.E657E Substitution - coding silent Central_nervous_system COSM2151782 MGMT c.152C>T p.A51V Substitution - Missense Central_nervous_system COSM2145471 ERCC6 c.1671T>C p.R557R Substitution - coding silent Upper_aerodigestive_tract COSM2210628 ASH1L c.8282C>T p.T2761M Substitution - Missense Large_intestine COSM2758190 NCOA6 c.2430C>T p.N810N Substitution - coding silent Large_intestine COSM2859868 TIF1 c.1433C>T p.P478L Substitution - Missense Large_intestine COSM3212694 GTF3C4 c.404C>T p.A135V Substitution - Missense Stomach COSM3296144 MBD5 c.1633T>C p.S545P Substitution - Missense Upper_aerodigestive_tract COSM3353133 TDRD6 c.5211A>G p.V1737V Substitution - coding silent Large_intestine COSM3380611 DHX30 c.2864G>A p.R955H Substitution - Missense Pancreas COSM3377899 CHD9 c.3404A>G p.N1135S Substitution - Missense Pancreas COSM3408901 SETD5_ENST00000402198 c.1806C>T p.V602V Substitution - coding silent Central_nervous_system COSM3464414 CHD4 c.494A>T p.H165L Substitution - Missense Skin COSM3660652 PHF7 c.838G>A p.G280R Substitution - Missense Liver COSM3655410 BRD3 c.971C>T p.S324F Substitution - Missense Skin COSM3705284 TDRD5 c.2343+9C>T p.? Unknown Liver COSM3727853 INOC1 c.1827A>T p.R609S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3799436 ASXL1 c.3806C>T p.S1269L Substitution - Missense Urinary_tract COSM3817963 CREBBP c.4175G>A p.R1392Q Substitution - Missense Breast COSM3790331 BRDT c.438C>A p.I146I Substitution - coding silent Urinary_tract COSM3934051 PRDM2 c.2986C>T p.P996S Substitution - Missense Oesophagus COSM3847992 BRD3 c.1525G>C p.E509Q Substitution - Missense Breast COSM3905424 BRD3 c.1180G>T p.D394Y Substitution - Missense Stomach COSM3945533 DHX30 c.682G>A p.E228K Substitution - Missense Lung COSM4022209 POGZ c.3692A>G p.H1231R Substitution - Missense Stomach COSM4021552 PRDM2 c.2977G>A p.V993I Substitution - Missense Stomach COSM3997839 MGMT c.159C>T p.L53L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4107993 HCFC1 c.383G>A p.C128Y Substitution - Missense Stomach COSM4097565 ASXL1 c.4119T>C p.F1373F Substitution - coding silent Stomach COSM4117995 SETD2 c.4971G>A p.P1657P Substitution - coding silent Large_intestine COSM4124869 GABRG1 c.44G>A p.R15Q Substitution - Missense Stomach COSM4121121 TET2 c.1150A>G p.S384G Substitution - Missense Stomach COSM4060284 SETD1A c.4330C>T p.R1444W Substitution - Missense Stomach COSM4061198 CHD9 c.2949T>A p.C983* Substitution - Nonsense Stomach COSM4128299 PYGO1 c.691C>G p.Q231E Substitution - Missense Thyroid COSM42038 TET2 c.3579T>G p.C1193W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4383843 TET2 c.2281delC p.P761fs*52 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4383863 TET2 c.2646C>A p.C882* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4384090 NSD1 c.6418A>T p.K2140* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4385265 EP300 c.6796_6798delCAG p.Q2268delQ Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM4598183 PHF3 c.3464T>C p.I1155T Substitution - Missense Upper_aerodigestive_tract COSM4594560 KMT2C c.2591A>G p.E864G Substitution - Missense Upper_aerodigestive_tract COSM4414035 PBRM1 c.1861A>T p.K621* Substitution - Nonsense Kidney COSM4444950 PHF17 c.2414C>A p.P805H Substitution - Missense Large_intestine COSM4430436 AP001011.3_ENST00000320876 c.713G>C p.G238A Substitution - Missense Oesophagus COSM4593164 EP400 c.6637A>C p.T2213P Substitution - Missense Upper_aerodigestive_tract COSM4590278 KDM2A c.310A>G p.S104G Substitution - Missense Soft_tissue COSM4458113 EYA1 c.1071C>T p.S357S Substitution - coding silent Skin COSM4459097 ADNP c.1111C>T p.P371S Substitution - Missense Skin COSM4477860 PRDM1 c.2082C>T p.I694I Substitution - coding silent Skin COSM4478251 MECOM c.1657C>T p.P553S Substitution - Missense Skin COSM4452013 DAXX c.1500A>T p.L500L Substitution - coding silent Skin COSM4766077 DNMT3A c.1122+2T>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4760769 PRDM5 c.1030+2T>C p.? Unknown Stomach COSM4802358 NIPBL c.1236C>T p.R412R Substitution - coding silent Liver COSM4794534 ARID1B c.4253G>A p.G1418E Substitution - Missense Liver COSM4842411 KDM2B c.181G>C p.E61Q Substitution - Missense Cervix COSM4953511 TBL1XR1 c.595A>G p.S199G Substitution - Missense Liver COSM5031764 TFPT c.377C>A p.S126Y Substitution - Missense Pancreas COSM5028403 AP001011.3_ENST00000320876 c.3358G>C p.D1120H Substitution - Missense Breast COSM5351712 ASXL1 c.4498G>T p.E1500* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5411960 SMARCA1 c.2863G>A p.G955R Substitution - Missense Skin COSM5396712 DNMT3A c.1228G>A p.A410T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5378667 TDRD5 c.1126+1G>A p.? Unknown Skin COSM5352923 ARID1A c.4237G>A p.A1413T Substitution - Missense Large_intestine COSM5490577 BAP1 c.211G>A p.V71M Substitution - Missense Biliary_tract COSM5490587 ARID2 c.1580+1G>T p.? Unknown Biliary_tract COSM5516562 MTA2 c.1922C>T p.T641M Substitution - Missense Biliary_tract COSM5497621 MSH6 c.3162C>T p.I1054I Substitution - coding silent Biliary_tract COSM5474782 HDAC3 c.1076G>A p.R359H Substitution - Missense Large_intestine COSM5485687 CHD8 c.7388G>A p.S2463N Substitution - Missense Large_intestine COSM5435617 GLYATL1 c.771T>C p.S257S Substitution - coding silent Oesophagus COSM5448168 PRDM2 c.3237C>T p.S1079S Substitution - coding silent Large_intestine COSM5649357 NCOA1 c.3672G>C p.Q1224H Substitution - Missense Oesophagus COSM5654710 TBL1XR1 c.586T>C p.W196R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5747808 ZBTB4 c.2279G>T p.R760M Substitution - Missense Pancreas COSM5716075 PRDM10 c.254G>A p.G85D Substitution - Missense Skin COSM5748960 ZMYM3 c.2206C>T p.R736C Substitution - Missense Pancreas COSM5599757 KDM3A c.1219C>T p.P407S Substitution - Missense Skin COSM5607856 ARID1B c.3488C>T p.P1163L Substitution - Missense Skin COSM5691287 MBD1 c.1804G>T p.A602S Substitution - Missense Soft_tissue COSM5685168 ACTR6 c.1120G>C p.D374H Substitution - Missense Soft_tissue COSM5765615 KDM5C c.3374T>C p.L1125S Substitution - Missense Large_intestine COSM5574318 BAP1 c.1177C>T p.Q393* Substitution - Nonsense Eye COSM5708766 SETD2 c.4006G>T p.E1336* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5802226 KDM3A c.1008-5_1040del38 p.? Unknown Breast COSM5884613 TRRAP c.2849T>C p.L950P Substitution - Missense Large_intestine COSM5944498 TET2 c.2109_2110insA p.N704fs*8 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5913811 SRCAP c.3799C>T p.P1267S Substitution - Missense Skin COSM5915225 SFMBT1 c.1694C>T p.S565F Substitution - Missense Skin COSM5962256 SMARCC2 c.1577C>A p.P526Q Substitution - Missense Breast COSM6019352 ASXL1 c.3587C>T p.A1196V Substitution - Missense Prostate COSM5985895 ZMYM2 c.3246G>A p.W1082* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5986189 SETD2 c.1105C>G p.Q369E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5989537 TET2 c.513C>A p.C171* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5969368 PHC2 c.213C>T p.A71A Substitution - coding silent Upper_aerodigestive_tract COSM5969583 BRDT c.296A>T p.N99I Substitution - Missense Upper_aerodigestive_tract COSM1738048 TET2 c.? p.T1078fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM166349 DNMT3A c.? p.?del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5878646 ATRX c.663-?_3736+?del p.? Unknown Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM51384 IDH1 c.? p.R132L Substitution - Missense Central_nervous_system COSM4767407 MEN1 c.?_?del? p.A464_E468del Deletion - In frame Thyroid COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1666676 SETBP1 c.? p.I871T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM5347217 ARID1A c.?_?del? p.Y1324fs*? Deletion - Frameshift Endometrium COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53056 TET2 c.? p.K845fs*28 Frameshift Haematopoietic_and_lymphoid_tissue COSM4795523 PRDM16 c.1642C>T p.P548S Substitution - Missense Liver COSM4548230 GTF3C1 c.4422G>A p.R1474R Substitution - coding silent Skin COSM115685 TCF20 c.1114C>A p.P372T Substitution - Missense Ovary COSM1333459 PRDM2 c.4270delA p.N1426fs*3 Deletion - Frameshift Large_intestine COSM5753735 PHRF1 c.1436C>T p.S479F Substitution - Missense Large_intestine COSM4720064 RAI1 c.2495_2496delCC p.A832fs*3 Deletion - Frameshift Large_intestine COSM3399799 ASH1L c.3420C>G p.S1140S Substitution - coding silent Central_nervous_system COSM4449072 PRDM15 c.2633-1G>A p.? Unknown Skin COSM251421 ARID1A c.6260G>A p.G2087E Substitution - Missense Stomach COSM1399844 MBD5 c.1427C>T p.P476L Substitution - Missense Large_intestine COSM81799 TCF20 c.3180C>G p.A1060A Substitution - coding silent Ovary COSM3561782 PHF16 c.552C>T p.N184N Substitution - coding silent Skin COSM3849684 NCOA7 c.1847A>G p.N616S Substitution - Missense Prostate COSM215750 SMARCA4 c.2735C>A p.T912K Substitution - Missense Central_nervous_system COSM450778 JARID2 c.1274G>A p.R425Q Substitution - Missense Breast COSM132992 ARID1A c.6259G>A p.G2087R Substitution - Missense Breast COSM4392065 ZMYM4 c.4429C>T p.L1477L Substitution - coding silent Prostate COSM4590380 KMT2C c.7443A>T p.R2481S Substitution - Missense Upper_aerodigestive_tract COSM5752669 PHF6 c.1042G>T p.G348* Substitution - Nonsense Breast COSM5367565 ARID1A c.3030_3031insT p.L1011fs*3 Insertion - Frameshift Large_intestine COSM1638611 JMJD1C c.3694A>G p.S1232G Substitution - Missense Stomach COSM5958718 MYST2 c.107delC p.R37fs*13 Deletion - Frameshift Thyroid COSM1124802 ZMYM3 c.3180C>A p.T1060T Substitution - coding silent Endometrium COSM5720515 NSD1 c.6635C>T p.P2212L Substitution - Missense Skin COSM4921936 DIDO1 c.4404G>T p.A1468A Substitution - coding silent Liver COSM3413629 KIAA1045 c.154G>A p.V52I Substitution - Missense Central_nervous_system COSM3666009 KMT2A c.7676T>A p.I2559N Substitution - Missense Liver COSM744985 EZH2 c.958C>T p.L320L Substitution - coding silent Lung COSM230133 KMT2C c.1173C>A p.C391* Substitution - Nonsense Large_intestine COSM4494954 LMNB2 c.382C>T p.R128C Substitution - Missense Skin COSM110782 TET2 c.4865_4865delT p.L1622fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1295005 SETDB1 c.2086G>C p.E696Q Substitution - Missense Urinary_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM5990201 HNF1A c.731G>T p.R244I Substitution - Missense Liver COSM252435 CHD3 c.1379G>A p.R460H Substitution - Missense Ovary COSM5752476 ARID1A c.537_546del10 p.G180fs*49 Deletion - Frameshift Breast COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1132021 SHPRH c.3688G>C p.A1230P Substitution - Missense Prostate COSM454521 ASH2L c.1849G>A p.E617K Substitution - Missense Endometrium COSM327380 BTAF1 c.640A>G p.R214G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4779297 GATAD2B c.657G>T p.Q219H Substitution - Missense Liver COSM1159500 CDYL2 c.1495C>G p.L499V Substitution - Missense Pancreas COSM1220364 PHF20 c.1641G>T p.K547N Substitution - Missense Large_intestine COSM738282 PRDM9 c.885C>A p.I295I Substitution - coding silent Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM4940732 NCOA3 c.3127A>G p.N1043D Substitution - Missense Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1190275 NCOA5 c.238G>T p.D80Y Substitution - Missense Lung COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM41600 ASXL1 c.? p.Q976* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5462037 PHRF1 c.927G>A p.L309L Substitution - coding silent Large_intestine COSM3608977 KDM3B c.1907C>T p.P636L Substitution - Missense Skin COSM4628610 EZH2 c.193A>G p.I65V Substitution - Missense Large_intestine COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1673880 MYST3 c.5629C>T p.R1877C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM71798 NCOR1 c.2899A>G p.M967V Substitution - Missense Ovary COSM79348 CREBBP c.4021C>T p.R1341* Substitution - Nonsense Ovary COSM6010334 BAZ2B c.1286C>T p.S429F Substitution - Missense Skin COSM5047736 KDM6A c.775C>A p.L259M Substitution - Missense Oesophagus COSM4595028 KMT2C c.2681G>A p.R894Q Substitution - Missense Upper_aerodigestive_tract COSM5024116 ARID1A c.3221G>A p.R1074Q Substitution - Missense Bone COSM1690773 SMYD1 c.1294C>T p.P432S Substitution - Missense Skin COSM1624667 GTF3C4 c.1937A>C p.E646A Substitution - Missense Liver COSM3429793 CHD1 c.4872A>C p.K1624N Substitution - Missense Large_intestine COSM3999517 BAHD1 c.77A>G p.E26G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4608173 MTA1 c.1444G>T p.A482S Substitution - Missense Adrenal_gland COSM373686 HDAC3 c.334C>T p.L112L Substitution - coding silent Lung COSM1239175 JARID2 c.1266delG p.R425fs*36 Deletion - Frameshift Large_intestine COSM387791 TRRAP c.3630G>T p.L1210L Substitution - coding silent Lung COSM1704979 CHD4 c.517C>T p.R173* Substitution - Nonsense Skin COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3764362 ACTR6 c.357T>G p.F119L Substitution - Missense Central_nervous_system COSM41094 CDYL2 c.857C>A p.A286E Substitution - Missense Central_nervous_system COSM3590426 ACTL6A c.59C>T p.S20F Substitution - Missense Skin COSM1299682 BAZ2A_ENST00000379441 c.2703C>T p.V901V Substitution - coding silent Urinary_tract COSM1449484 KMT2C c.568C>T p.R190* Substitution - Nonsense Pancreas COSM3666245 PRMT3 c.247+7A>T p.? Unknown Liver COSM681258 KDM4A c.2843G>C p.S948T Substitution - Missense Lung COSM4669627 CCDC101 c.88C>T p.R30W Substitution - Missense Large_intestine COSM3473513 SETDB1 c.347C>T p.S116F Substitution - Missense Skin COSM1220327 PHF10 c.815G>A p.R272H Substitution - Missense Large_intestine COSM1490740 RBBP7 c.715G>C p.E239Q Substitution - Missense Breast COSM4409916 KMT2C c.743C>T p.T248I Substitution - Missense Oesophagus COSM977056 PHF12 c.1121G>T p.R374I Substitution - Missense Endometrium COSM1187149 NCOA7 c.1192T>A p.S398T Substitution - Missense Pancreas COSM1228965 TET2 c.290C>T p.T97I Substitution - Missense Large_intestine COSM3537077 KDM4B c.558C>T p.F186F Substitution - coding silent Skin COSM4799236 ARID1B c.8C>T p.T3M Substitution - Missense Liver COSM211742 TET2 c.4999_5006delCTGTCTAA p.L1667fs*17 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5995541 GABRG1 c.1038A>C p.A346A Substitution - coding silent Prostate COSM3584393 UTY c.3508G>A p.G1170S Substitution - Missense Skin COSM3863727 TDRD5 c.1129C>T p.Q377* Substitution - Nonsense Skin COSM4832682 KIAA2026_ENST00000399933 c.2877G>C p.E959D Substitution - Missense Cervix COSM3379865 ATF2 c.1331C>A p.P444Q Substitution - Missense Pancreas COSM1118565 RBBP7 c.707T>C p.L236P Substitution - Missense Endometrium COSM3670238 DNMT3B c.1058C>T p.T353M Substitution - Missense Central_nervous_system COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3937048 SETD1A c.1860C>A p.S620S Substitution - coding silent Oesophagus COSM4774881 DNMT3A c.1829C>T p.A610V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1731712 TET2 c.3981_3982insA p.N1328fs*11 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM673971 NCOA2 c.1308G>A p.M436I Substitution - Missense Endometrium COSM3401229 CHD8 c.1111C>G p.Q371E Substitution - Missense Central_nervous_system COSM3061746 TCF20 c.4753delG p.E1585fs*30 Deletion - Frameshift Large_intestine COSM97087 TET2 c.3894T>G p.C1298W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4454408 SETD2 c.3299A>G p.H1100R Substitution - Missense Skin COSM5054602 CHD2 c.3585T>C p.N1195N Substitution - coding silent Stomach COSM1223021 RAD54L c.1486+1G>A p.? Unknown Large_intestine COSM33731 IDH2 c.514A>G p.R172G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3712674 CXXC1 c.1145G>T p.R382L Substitution - Missense Upper_aerodigestive_tract COSM4622945 BAZ1A c.196G>A p.E66K Substitution - Missense Large_intestine COSM4044340 CHD4 c.2438G>A p.R813H Substitution - Missense Stomach COSM1726216 ERCC6 c.2833C>T p.R945W Substitution - Missense Liver COSM233886 BRD1 c.2728+10C>T p.? Unknown Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5418956 PRDM10 c.220G>A p.V74M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5943424 PRDM2 c.2103delA p.T702fs*10 Deletion - Frameshift Skin COSM402221 DIDO1 c.1839G>T p.Q613H Substitution - Missense Lung COSM1197567 KDM3A c.1595A>T p.Q532L Substitution - Missense Lung COSM4905241 GLYATL1 c.149-1G>A p.? Unknown Skin COSM3515525 PHF12 c.2982G>A p.Q994Q Substitution - coding silent Skin COSM908423 PHC2 c.2095C>T p.R699W Substitution - Missense Endometrium COSM2889614 DNMT3B c.2134C>T p.R712W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4158093 SMARCC1 c.2426A>C p.D809A Substitution - Missense Thyroid COSM1447009 MLL5 c.1651_1652insA p.T553fs*4 Insertion - Frameshift Large_intestine COSM3414907 BMI1 c.433C>T p.R145W Substitution - Missense Large_intestine COSM43457 TET2 c.3508C>T p.Q1170* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM123550 HDAC4 c.2660G>T p.G887V Substitution - Missense Upper_aerodigestive_tract COSM144220 ATRX c.6761A>G p.H2254R Substitution - Missense Central_nervous_system COSM421750 ATAD2 c.3406G>A p.D1136N Substitution - Missense Urinary_tract COSM4426912 KDM6B c.3626G>T p.R1209L Substitution - Missense Oesophagus COSM43438 TET2 c.5473C>T p.Q1825* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM293294 CHD9 c.3865C>A p.Q1289K Substitution - Missense Large_intestine COSM3928572 PHF3 c.95A>G p.E32G Substitution - Missense Central_nervous_system COSM5879037 TET2 c.4661_4662insA p.E1555fs*23 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4995847 BRD4 c.1677G>C p.E559D Substitution - Missense Upper_aerodigestive_tract COSM4134435 ASXL1 c.3759T>C p.S1253S Substitution - coding silent Biliary_tract COSM4457525 PCGF6 c.1049C>G p.T350S Substitution - Missense Skin COSM2772179 TAF1L c.5265T>C p.P1755P Substitution - coding silent Large_intestine COSM917038 BMI1 c.111C>A p.S37S Substitution - coding silent Endometrium COSM3525450 ASXL3 c.2111C>T p.P704L Substitution - Missense Skin COSM74259 CREBBP c.4013T>C p.L1338S Substitution - Missense Ovary COSM87092 TET2 c.1851_1851delG p.R617fs*22 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM51200 ASXL1 c.1888_1910del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2802616 KDM6B c.2601G>A p.S867S Substitution - coding silent Large_intestine COSM4836361 SFMBT1 c.38C>T p.S13F Substitution - Missense Large_intestine COSM139816 SFMBT2 c.1417C>T p.P473S Substitution - Missense Skin COSM144228 DAXX c.712C>T p.R238* Substitution - Nonsense Central_nervous_system COSM4649587 ZBTB4 c.1704G>A p.L568L Substitution - coding silent Large_intestine COSM1675365 KAT6B c.3750A>C p.K1250N Substitution - Missense Large_intestine COSM2866722 TRRAP c.6829C>T p.R2277C Substitution - Missense Stomach COSM4789085 GABRG1 c.179A>T p.H60L Substitution - Missense Liver COSM297797 CHD1 c.1495G>A p.G499R Substitution - Missense Large_intestine COSM4023037 ASH1L c.7687A>G p.S2563G Substitution - Missense Stomach COSM5754122 PRMT6 c.832G>T p.V278F Substitution - Missense Large_intestine COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM436133 RAI1 c.493C>A p.P165T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5996480 BAG6 c.305C>T p.T102M Substitution - Missense Prostate COSM478165 CHD6 c.1010A>G p.E337G Substitution - Missense Kidney COSM4987716 NCOA3 c.1758G>C p.Q586H Substitution - Missense Soft_tissue COSM1605513 PRDM4 c.1959G>T p.K653N Substitution - Missense Liver COSM3932816 AP001011.3_ENST00000320876 c.2122G>A p.V708I Substitution - Missense Kidney COSM369424 CHD2 c.4855C>T p.H1619Y Substitution - Missense Lung COSM4605832 SETD2 c.5587C>T p.P1863S Substitution - Missense Upper_aerodigestive_tract COSM1732207 SETD2 c.376A>G p.K126E Substitution - Missense Soft_tissue COSM51439 ARID1A c.3386A>C p.K1129T Substitution - Missense Ovary COSM1263130 PRMT7 c.1963G>T p.A655S Substitution - Missense Stomach COSM4481079 EHMT1 c.2390C>T p.A797V Substitution - Missense Skin COSM4663260 ARID1B c.6035A>T p.N2012I Substitution - Missense Large_intestine COSM5361915 KDM5A c.3092G>A p.R1031H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM238909 ATRX c.3138_3139insA p.I1049fs*4 Insertion - Frameshift Prostate COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3983402 PCGF2 c.892A>C p.T298P Substitution - Missense Ovary COSM5384766 SETD1A c.1846C>T p.P616S Substitution - Missense Skin COSM110721 BAP1 c.178C>T p.R60* Substitution - Nonsense Biliary_tract COSM3464352 CHD4 c.4479T>C p.L1493L Substitution - coding silent Skin COSM2140950 CHD2 c.3998G>A p.G1333D Substitution - Missense Large_intestine COSM2856505 HDGFL1 c.113A>G p.Y38C Substitution - Missense Stomach COSM1019120 NCOA1 c.253C>T p.Q85* Substitution - Nonsense Endometrium COSM1325311 SIRT6 c.1002G>A p.E334E Substitution - coding silent Ovary COSM3736469 MYST3 c.401T>C p.L134S Substitution - Missense Soft_tissue COSM3474954 ASH1L c.7411C>T p.P2471S Substitution - Missense Skin COSM5589840 BRD3 c.36C>T p.I12I Substitution - coding silent Skin COSM88732 CREBBP c.3158C>T p.P1053L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3733336 KMT2C c.2263C>T p.Q755* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3733336 KMT2C c.2263C>T p.Q755* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3523238 CBX8 c.574C>T p.P192S Substitution - Missense Skin COSM4511903 SMARCA5 c.884C>A p.S295Y Substitution - Missense Skin COSM5967544 ARID1A c.4468G>T p.E1490* Substitution - Nonsense Skin COSM5976890 CHD7 c.7716C>T p.I2572I Substitution - coding silent Upper_aerodigestive_tract COSM4101916 DNMT3L c.699G>T p.E233D Substitution - Missense Stomach COSM910656 ORC1 c.961C>T p.R321* Substitution - Nonsense Endometrium COSM5624197 MTA2 c.182G>A p.S61N Substitution - Missense Oesophagus COSM5756292 DHX30 c.2590C>T p.R864W Substitution - Missense Large_intestine COSM3300255 BAZ2B c.3884G>A p.G1295E Substitution - Missense Skin COSM4422800 TAF1 c.1801C>T p.P601S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3423579 DNMT3B c.458C>T p.S153L Substitution - Missense Large_intestine COSM1073479 EYA4 c.428A>C p.Y143S Substitution - Missense Endometrium COSM1017588 SP110 c.793C>T p.P265S Substitution - Missense Endometrium COSM4400092 SIRT2 c.753C>T p.F251F Substitution - coding silent Skin COSM4313886 MSH6 c.4002-10T>A p.? Unknown Kidney COSM2931214 DIDO1 c.1545G>T p.K515N Substitution - Missense Large_intestine COSM1624023 MYST3 c.4504G>A p.V1502M Substitution - Missense Liver COSM5461176 MGA c.845A>G p.N282S Substitution - Missense Large_intestine COSM3751836 ERCC6 c.3637A>G p.R1213G Substitution - Missense Soft_tissue COSM5811576 YEATS4 c.453G>A p.M151I Substitution - Missense Liver COSM5549815 KDM3B c.122C>T p.A41V Substitution - Missense Prostate COSM329178 BRD8 c.3237C>T p.P1079P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1451973 BAZ1B c.2864G>A p.R955H Substitution - Missense Large_intestine COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM993 SMARCB1 c.601C>T p.R201* Substitution - Nonsense Large_intestine COSM6004914 BRD1 c.2342C>G p.P781R Substitution - Missense Prostate COSM5711634 KDM6A c.65A>G p.E22G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6005199 BRWD3 c.2682A>G p.L894L Substitution - coding silent Prostate COSM3983753 MYST3 c.4108G>A p.E1370K Substitution - Missense Oesophagus COSM1342100 ZMYM6 c.2244T>C p.Y748Y Substitution - coding silent Large_intestine COSM3669154 DHX30 c.2520G>T p.V840V Substitution - coding silent Liver COSM2773705 KIAA1045 c.626G>A p.R209Q Substitution - Missense Large_intestine COSM1169379 ASXL1 c.? p.Q708* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM723125 ASXL1 c.2035G>T p.G679* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4534120 PHF3 c.2050G>A p.D684N Substitution - Missense Skin COSM4801901 PHC1 c.2567G>T p.R856L Substitution - Missense Liver COSM4767375 ASXL1 c.2926C>T p.Q976* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3712444 ZBTB4 c.580G>A p.A194T Substitution - Missense Upper_aerodigestive_tract COSM4458558 YY1 c.108C>T p.I36I Substitution - coding silent Skin COSM4955608 HAT1 c.233A>G p.Y78C Substitution - Missense Liver COSM1122147 SUV39H1 c.171G>T p.Q57H Substitution - Missense Endometrium COSM1600242 TRIM28 c.865A>C p.K289Q Substitution - Missense Central_nervous_system COSM682724 BRDT c.612G>T p.A204A Substitution - coding silent Lung COSM3356166 KMT2A c.7083T>G p.S2361S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM700639 MGA c.3208C>A p.H1070N Substitution - Missense Lung COSM5592501 PHF2 c.3213G>A p.T1071T Substitution - coding silent Skin COSM5570769 GATAD2A c.49G>A p.V17M Substitution - Missense Prostate COSM87002 DNMT3A c.1627G>T p.G543C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM22574 MEN1 c.24_36del13 p.K8fs*107 Deletion - Frameshift Lung COSM927114 PHF21A c.853G>A p.V285I Substitution - Missense Endometrium COSM1732940 KMT2A c.8449G>A p.D2817N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM224162 RAD54L c.1318G>A p.G440S Substitution - Missense Skin COSM5695156 PHC3 c.605A>G p.Q202R Substitution - Missense Soft_tissue COSM5487633 ASXL1 c.2091_2092insC p.P699fs*19 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3488185 RBBP4 c.1018C>T p.R340C Substitution - Missense Skin COSM1180918 ASXL1 c.1927delG p.G645fs*58 Deletion - Frameshift Oesophagus COSM3496562 ARID4A c.998C>T p.P333L Substitution - Missense Skin COSM133723 DNMT3A c.2255_2257delTCT p.F752del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM1433381 KDM3B c.3193C>T p.R1065C Substitution - Missense Large_intestine COSM1420703 TBL1XR1 c.1183T>C p.Y395H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM36169 ASXL1 c.2057_2058insA p.C687fs*31 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM358924 RTF1 c.667C>G p.P223A Substitution - Missense Lung COSM4761483 EP400 c.5486T>G p.L1829R Substitution - Missense Stomach COSM88749 CREBBP c.4336C>T p.R1446C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6188 TRIM33 c.2968-1G>C p.? Unknown Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM907747 ARID1A c.5856delC p.K1953fs*3 Deletion - Frameshift Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM692638 KDM2B c.521C>T p.P174L Substitution - Missense Lung COSM4677377 DHX30 c.3399T>C p.R1133R Substitution - coding silent Large_intestine COSM3878702 JHDM1D c.2001C>T p.P667P Substitution - coding silent Stomach COSM255460 HDAC9 c.277C>A p.L93I Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3799747 DIDO1 c.2133T>A p.F711L Substitution - Missense Urinary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1443749 RING1 c.735delC p.P247fs*38 Deletion - Frameshift Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM290684 KAT6B c.2340A>C p.E780D Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4385415 ATRX c.5773G>A p.D1925N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1673701 KMT2C c.10768A>C p.I3590L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4822928 ARID2 c.5230C>A p.L1744M Substitution - Missense Cervix COSM240232 INO80B c.213-1G>C p.? Unknown Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1308211 EP300 c.6004C>G p.Q2002E Substitution - Missense Urinary_tract COSM3551326 DNMT3L c.328A>T p.N110Y Substitution - Missense Skin COSM150036 CDYL c.4A>G p.T2A Substitution - Missense Biliary_tract COSM33732 IDH2 c.515G>T p.R172M Substitution - Missense Central_nervous_system COSM4011748 TDRD1 c.1551C>A p.G517G Substitution - coding silent Stomach COSM4665015 BAG6 c.2910T>C p.P970P Substitution - coding silent Large_intestine COSM87007 DNMT3A c.2711C>T p.P904L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1667941 TDRKH c.107G>T p.R36M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5365245 BRD4 c.9G>A p.A3A Substitution - coding silent Large_intestine COSM4626617 RNF134 c.718C>T p.Q240* Substitution - Nonsense Large_intestine COSM4793164 RNF17 c.343A>T p.K115* Substitution - Nonsense Liver COSM2151704 GTF3C1 c.4408G>C p.E1470Q Substitution - Missense Central_nervous_system COSM302137 EP400 c.8181A>G p.Q2727Q Substitution - coding silent Central_nervous_system COSM5905311 BRD7 c.1367C>T p.P456L Substitution - Missense Skin COSM5450088 HDAC3 c.890G>A p.G297D Substitution - Missense Large_intestine COSM3369240 PRDM2 c.480G>C p.R160R Substitution - coding silent Thyroid COSM5519221 TDRD3 c.1657G>A p.A553T Substitution - Missense Biliary_tract COSM3304221 KMT2C c.4592C>T p.A1531V Substitution - Missense Stomach COSM3637532 STK31 c.350G>A p.G117E Substitution - Missense Skin COSM87007 DNMT3A c.2711C>T p.P904L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41719 TET2 c.? p.K1197R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM51981 BAP1 c.2015A>G p.D672G Substitution - Missense Eye COSM1352567 PRDM10 c.1881G>A p.V627V Substitution - coding silent Large_intestine COSM5668629 TAF1L c.3687C>A p.A1229A Substitution - coding silent Soft_tissue COSM914344 ASXL1 c.? p.C632fs*23 Frameshift Haematopoietic_and_lymphoid_tissue COSM23055 MEN1 c.378G>A p.W126* Substitution - Nonsense Adrenal_gland COSM4818258 CHD2 c.735C>T p.L245L Substitution - coding silent Cervix COSM4590631 GLYR1 c.1377C>G p.H459Q Substitution - Missense Upper_aerodigestive_tract COSM70622 EPC1 c.1081C>A p.L361M Substitution - Missense Ovary COSM5941405 ASXL3 c.1982A>G p.N661S Substitution - Missense Skin COSM1663473 PHF20 c.929A>T p.E310V Substitution - Missense Kidney COSM4060704 CREBBP c.4804C>T p.R1602C Substitution - Missense Stomach COSM5788972 HDGF c.617C>G p.S206C Substitution - Missense Breast COSM5470952 DOT1L c.239G>A p.R80H Substitution - Missense Large_intestine COSM2152834 SMARCA1 c.123C>T p.A41A Substitution - coding silent Central_nervous_system COSM3629178 PHF3 c.2563C>T p.P855S Substitution - Missense Skin COSM4723957 SCMH1 c.1226A>C p.N409T Substitution - Missense Large_intestine COSM4405697 NCOR1 c.6323A>G p.Q2108R Substitution - Missense Skin COSM419538 EP300 c.4227G>C p.L1409F Substitution - Missense Urinary_tract COSM24923 HNF1A c.779C>T p.T260M Substitution - Missense Liver COSM654 TAF1L c.3403C>T p.Q1135* Substitution - Nonsense Breast COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Pancreas COSM82031 BTAF1 c.1183C>T p.L395L Substitution - coding silent Ovary COSM75580 NCOA6 c.3967C>T p.R1323W Substitution - Missense Ovary COSM141258 TAF1L c.410A>T p.D137V Substitution - Missense Upper_aerodigestive_tract COSM145694 NSD1 c.6085A>G p.T2029A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM220994 GTF3C1 c.1214G>A p.R405Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Soft_tissue COSM186575 BRPF3 c.2690G>A p.R897H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM219780 TET2 c.3803_3803+5delAGTAAG p.? Unknown Haematopoietic_and_lymphoid_tissue COSM255119 MEN1 c.361_362insGGAG p.V121fs*60 Insertion - Frameshift Parathyroid COSM254608 CHD6 c.4126G>T p.A1376S Substitution - Missense Urinary_tract COSM301622 ACTB c.284G>A p.R95H Substitution - Missense Central_nervous_system COSM303251 SMARCD2 c.143G>T p.R48L Substitution - Missense Central_nervous_system COSM375352 ARID1A c.1335C>T p.L445L Substitution - coding silent Lung COSM422767 PBRM1 c.1102G>T p.E368* Substitution - Nonsense Kidney COSM454809 PRDM14 c.888C>T p.Y296Y Substitution - coding silent Prostate COSM464991 RERE c.3614C>T p.A1205V Substitution - Missense Kidney COSM461622 HDAC9 c.1096C>T p.P366S Substitution - Missense Skin COSM1027978 ADNP c.638C>T p.S213L Substitution - Missense Kidney COSM939511 ARID2 c.4143T>G p.T1381T Substitution - coding silent Stomach COSM920003 SFMBT2 c.2249C>T p.A750V Substitution - Missense Endometrium COSM708757 CHD3 c.3357C>A p.I1119I Substitution - coding silent Lung COSM732825 PRDM5 c.666A>T p.T222T Substitution - coding silent Lung COSM896928 ASH1L c.3962G>A p.R1321Q Substitution - Missense Biliary_tract COSM935972 HNF1A c.403G>A p.D135N Substitution - Missense Endometrium COSM990761 SMARCA4 c.4201G>A p.E1401K Substitution - Missense Endometrium COSM969253 GTF3C1 c.3785G>A p.R1262H Substitution - Missense Endometrium COSM1121692 PHF16 c.925G>T p.A309S Substitution - Missense Endometrium COSM1125875 BRWD3 c.1298G>A p.R433H Substitution - Missense Endometrium COSM1087594 KMT2C c.5790A>G p.S1930S Substitution - coding silent Endometrium COSM1080973 PHF3 c.5795G>A p.R1932K Substitution - Missense Endometrium COSM1162342 PHC1 c.918A>G p.R306R Substitution - coding silent Thyroid COSM1200958 CHD2 c.4636C>T p.R1546* Substitution - Nonsense Large_intestine COSM1583150 DNMT3A c.2628C>A p.D876E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1169576 PBRM1 c.3505_3505delC p.H1169fs*49 Deletion - Frameshift Kidney COSM1180098 KMT2C c.1005T>A p.P335P Substitution - coding silent Large_intestine COSM1226776 SMARCB1 c.934G>A p.A312T Substitution - Missense Pancreas COSM1211714 KDM2B c.1666G>A p.A556T Substitution - Missense Large_intestine COSM1186312 BAP1 c.1168C>A p.P390T Substitution - Missense Lung COSM1606041 PRMT8 c.161G>A p.S54N Substitution - Missense Liver COSM1302466 RAI1 c.5272G>A p.D1758N Substitution - Missense Urinary_tract COSM1289303 PCGF6 c.96C>A p.P32P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1297696 KMT2A c.5676T>G p.Y1892* Substitution - Nonsense Urinary_tract COSM1291423 IDH1 c.629G>A p.S210N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1369938 METTL21D c.587T>G p.F196C Substitution - Missense Large_intestine COSM1408193 CAMKMT c.460delG p.G155fs*3 Deletion - Frameshift Large_intestine COSM1427319 SMARCA5 c.520+2T>C p.? Unknown Large_intestine COSM1449420 KMT2C c.8390_8391insA p.E2798fs*11 Insertion - Frameshift Large_intestine COSM1462017 TAF1L c.778C>T p.R260C Substitution - Missense Large_intestine COSM1357981 KDM4D c.186C>T p.T62T Substitution - coding silent Large_intestine COSM1609876 NCOR1 c.5541delC p.R1848fs*2 Deletion - Frameshift Liver COSM1614215 IDH1 c.765G>T p.V255V Substitution - coding silent Liver COSM1638036 SRCAP c.5404G>A p.A1802T Substitution - Missense Bone COSM1662350 KAT2A c.1264G>T p.D422Y Substitution - Missense Kidney COSM1744924 PBRM1 c.3638_3639insA p.E1214fs*6 Insertion - Frameshift Biliary_tract COSM1969458 BTAF1 c.1359A>G p.S453S Substitution - coding silent Large_intestine COSM1983026 LMNA c.1300G>A p.A434T Substitution - Missense Prostate COSM1994677 AICDA c.264C>T p.Y88Y Substitution - coding silent Oesophagus COSM2002880 ATF7IP c.3508C>T p.R1170C Substitution - Missense Large_intestine COSM2762730 ADNP c.351C>T p.D117D Substitution - coding silent Pancreas COSM2848389 GABRG1 c.821C>T p.T274I Substitution - Missense Large_intestine COSM3021598 JARID2 c.79C>T p.R27W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3097144 ATRX c.1886T>G p.L629R Substitution - Missense Large_intestine COSM3294987 ZMYND8 c.312T>C p.D104D Substitution - coding silent Upper_aerodigestive_tract COSM3396759 KIAA1045 c.998C>T p.S333F Substitution - Missense Skin COSM3398791 SMARCD1 c.757-1G>A p.? Unknown Central_nervous_system COSM3460559 KDM5A c.3450C>T p.A1150A Substitution - coding silent Skin COSM3550988 PRDM15 c.4284G>A p.Q1428Q Substitution - coding silent Skin COSM3567438 MBD5 c.1306C>T p.P436S Substitution - Missense Skin COSM3540825 TRIM28 c.610G>A p.E204K Substitution - Missense Skin COSM3529607 BRD4 c.699C>T p.I233I Substitution - coding silent Skin COSM3523584 BAHCC1 c.1705C>T p.L569L Substitution - coding silent Skin COSM3662035 CHD1 c.4501A>G p.I1501V Substitution - Missense Liver COSM3663862 NCOA2 c.3704T>A p.L1235Q Substitution - Missense Liver COSM3722543 KMT2A c.8733C>A p.V2911V Substitution - coding silent Upper_aerodigestive_tract COSM3721557 DOT1L c.2555A>G p.E852G Substitution - Missense Upper_aerodigestive_tract COSM3733382 SMARCA4 c.3109A>T p.N1037Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3765033 ZMYM3 c.3611C>T p.S1204L Substitution - Missense Central_nervous_system COSM3775459 TET2 c.105G>A p.Q35Q Substitution - coding silent Urinary_tract COSM3781661 PHF7 c.289A>T p.I97F Substitution - Missense Pancreas COSM3786782 BRWD3 c.3432C>T p.D1144D Substitution - coding silent Pancreas COSM3808479 KMT2A c.4390G>T p.E1464* Substitution - Nonsense Breast COSM3798025 MBD5 c.4216G>C p.E1406Q Substitution - Missense Urinary_tract COSM3809729 PHRF1 c.3532C>T p.R1178W Substitution - Missense Breast COSM3857059 CHD1 c.1528C>A p.L510I Substitution - Missense Stomach COSM3957626 BRD7 c.1843A>G p.M615V Substitution - Missense Lung COSM3969560 CREBBP c.1369A>G p.I457V Substitution - Missense Central_nervous_system COSM4010338 RERE c.328T>C p.C110R Substitution - Missense Stomach COSM4042381 KMT2D c.6191G>A p.R2064Q Substitution - Missense Stomach COSM3995130 PHIP c.1444C>T p.L482F Substitution - Missense Kidney COSM3993611 WHSC1 c.3568G>C p.V1190L Substitution - Missense Kidney COSM4108456 SCML2 c.1012C>T p.R338C Substitution - Missense Stomach COSM4121656 PRDM5 c.744T>C p.S248S Substitution - coding silent Stomach COSM4064158 NCOR1 c.4454C>A p.P1485H Substitution - Missense Stomach COSM4129608 NCOR1 c.571G>A p.E191K Substitution - Missense Upper_aerodigestive_tract COSM4155431 LMNB1 c.522A>C p.E174D Substitution - Missense Kidney COSM4162018 KMT2C c.2315C>T p.S772L Substitution - Missense Skin COSM4385413 ATRX c.5963C>A p.A1988D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4383556 DNMT3A c.2043delC p.M682fs*23 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4383949 TET2 c.4475A>G p.E1492G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4603241 KDM6B c.761_762insACCACC p.P264_L265insPP Insertion - In frame Upper_aerodigestive_tract COSM4602848 BPTF c.8028_8029insCCTCCAGCC p.P2684_P2685insAPP Insertion - In frame Upper_aerodigestive_tract COSM4440704 TBL1XR1 c.1336T>G p.Y446D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4581968 DIDO1 c.11A>T p.K4I Substitution - Missense Bone COSM4585723 NSD1 c.1149C>T p.I383I Substitution - coding silent Large_intestine COSM4627799 ASXL1 c.924A>G p.L308L Substitution - coding silent Large_intestine COSM4925964 KDM2B c.134C>A p.S45Y Substitution - Missense Liver COSM4961310 ZMYND8 c.2898G>A p.M966I Substitution - Missense Liver COSM4949732 KAT5 c.1019G>A p.R340H Substitution - Missense Liver COSM4956329 TAF1 c.598G>A p.A200T Substitution - Missense Liver COSM4998010 BAZ1B c.2815C>T p.H939Y Substitution - Missense Pancreas COSM4984989 HNF1A c.1460G>A p.S487N Substitution - Missense Soft_tissue COSM4988407 NIPBL c.7423G>A p.D2475N Substitution - Missense Soft_tissue COSM5027590 KMT2D c.10846C>T p.Q3616* Substitution - Nonsense Breast COSM5057844 EP300 c.1880C>T p.A627V Substitution - Missense Prostate COSM5092671 BRD3 c.71_72insC p.E25fs*51 Insertion - Frameshift Large_intestine COSM5041627 ATF7IP c.968A>T p.D323V Substitution - Missense Liver COSM5375060 PRMT8 c.974C>T p.S325F Substitution - Missense Skin COSM5499066 EHMT1 c.518G>A p.R173H Substitution - Missense Biliary_tract COSM5480451 DNMT3A c.601C>T p.R201C Substitution - Missense Large_intestine COSM5480825 KMT2A c.1264A>G p.I422V Substitution - Missense Large_intestine COSM5438691 KDM4B c.642A>G p.P214P Substitution - coding silent Oesophagus COSM5421902 KMT2C c.9319A>G p.I3107V Substitution - Missense Prostate COSM5625236 DNMT3A c.2691C>T p.V897V Substitution - coding silent Oesophagus COSM5758372 CHD3 c.973G>A p.D325N Substitution - Missense Bone COSM5769442 SMCHD1 c.3635A>C p.Y1212S Substitution - Missense Breast COSM5655927 ARID1A c.5390delC p.A1797fs*9 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5722704 CBX8 c.433G>A p.E145K Substitution - Missense Skin COSM5727654 EP400 c.7991C>T p.T2664I Substitution - Missense Skin COSM5605178 TRIM24 c.2571G>A p.L857L Substitution - coding silent Skin COSM5621355 NCOA1 c.3652G>A p.G1218S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5668989 KDM2A c.3278G>C p.R1093P Substitution - Missense Soft_tissue COSM5681471 BRDT c.1249G>C p.D417H Substitution - Missense Soft_tissue COSM5711570 SCML2 c.552_553insA p.N185fs*14 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5568384 EYA3 c.1397C>G p.S466C Substitution - Missense Prostate COSM5547378 MBD5 c.2349_2352delAATA p.N785fs*18 Deletion - Frameshift Prostate COSM5833495 AP001011.3_ENST00000320876 c.2166_2169delACTG p.L723fs*67 Deletion - Frameshift Breast COSM5944243 TET2 c.1526_1530delCAGAA p.E510fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5944528 EZH2 c.2228_2229insCATCG p.E745fs*>9 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5905661 DAXX c.494C>T p.S165F Substitution - Missense Skin COSM5920016 TRDMT1 c.1063C>T p.P355S Substitution - Missense Skin COSM5990192 HNF1A c.646_646delC p.Q216fs*17 Deletion - Frameshift Liver COSM6004733 BRWD1 c.3900+7T>C p.? Unknown Prostate COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144603 KMT2D c.14464T>A p.C4513S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1731930 ARID1A c.3762_3763insG p.M1256fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1034770 TCF20 c.2306C>A p.S769Y Substitution - Missense Endometrium COSM1212054 KIAA1045 c.481C>T p.R161C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM947884 PHF11 c.445C>T p.R149* Substitution - Nonsense Large_intestine COSM5508387 MTA2 c.1877G>A p.R626Q Substitution - Missense Biliary_tract COSM417657 DOT1L c.2343G>A p.L781L Substitution - coding silent Urinary_tract COSM4791792 SMARCC1 c.366T>A p.L122L Substitution - coding silent Liver COSM22609 MEN1 c.533C>A p.S178Y Substitution - Missense Pancreas COSM3845471 BRWD3 c.765A>C p.A255A Substitution - coding silent Breast COSM965438 MORF4L1 c.896C>T p.A299V Substitution - Missense Endometrium COSM5424934 PHC1 c.933G>A p.V311V Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5030942 KDM6A c.3938C>T p.A1313V Substitution - Missense Kidney COSM3873504 BRPF3 c.1814T>C p.L605P Substitution - Missense Stomach COSM1372745 INOC1 c.727C>T p.R243C Substitution - Missense Large_intestine COSM3013853 PRDM9 c.2188A>C p.S730R Substitution - Missense Soft_tissue COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Soft_tissue COSM1095771 ATAD2 c.816T>C p.D272D Substitution - coding silent Endometrium COSM4384292 EZH2 c.782C>A p.T261N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96489 TET2 c.5297_5298ins42 p.Y1677fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM437200 BPTF c.5401C>A p.P1801T Substitution - Missense Breast COSM745857 KMT2C c.4430A>G p.N1477S Substitution - Missense Lung COSM4624608 SMARCB1 c.1141A>G p.T381A Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM681370 SCMH1 c.466G>C p.G156R Substitution - Missense Lung COSM3033660 MECP2 c.1135C>T p.P379S Substitution - Missense Large_intestine COSM4653287 CHD6 c.3280C>T p.R1094* Substitution - Nonsense Large_intestine COSM254612 CHD6 c.1864A>T p.K622* Substitution - Nonsense Urinary_tract COSM3940055 PHF8 c.573T>C p.I191I Substitution - coding silent Oesophagus COSM1463725 PHF2 c.573C>T p.N191N Substitution - coding silent Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM3864576 LBR c.176C>T p.S59F Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM248481 ZMYM1 c.428T>G p.L143* Substitution - Nonsense Prostate COSM42028 TET2 c.3640C>T p.R1214W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM423569 TTF2 c.1630G>A p.G544S Substitution - Missense Breast COSM4610019 ZCWPW2 c.274G>C p.V92L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1287834 SETD8 c.1044G>A p.P348P Substitution - coding silent Central_nervous_system COSM3398538 EP400 c.2140C>A p.P714T Substitution - Missense Central_nervous_system COSM3797647 TRIM28 c.517C>T p.L173L Substitution - coding silent Urinary_tract COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4098445 CHD6 c.5928C>T p.A1976A Substitution - coding silent Stomach COSM4745782 PRDM1 c.1565G>A p.G522D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM88752 CREBBP c.4496T>C p.L1499P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4162012 KMT2C c.2556A>T p.T852T Substitution - coding silent Thyroid COSM73333 ZBTB33 c.775A>G p.S259G Substitution - Missense Ovary COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM4445249 MEN1 c.808C>A p.L270M Substitution - Missense Adrenal_gland COSM3714711 SMARCA5 c.347C>G p.S116* Substitution - Nonsense Upper_aerodigestive_tract COSM5774169 DOT1L c.3078A>G p.G1026G Substitution - coding silent Breast COSM2797780 BPTF c.5004G>A p.T1668T Substitution - coding silent Large_intestine COSM1226965 SND1 c.1879C>G p.L627V Substitution - Missense Large_intestine COSM5708974 TET2 c.5347C>T p.Q1783* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM941567 SMARCC2 c.322C>T p.R108C Substitution - Missense Endometrium COSM133720 DNMT3A c.2113A>T p.I705F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1158654 NIPBL c.1581G>A p.E527E Substitution - coding silent Pancreas COSM124349 MBD5 c.3494G>A p.R1165Q Substitution - Missense Upper_aerodigestive_tract COSM3397661 RAG2 c.268C>G p.Q90E Substitution - Missense Central_nervous_system COSM4791687 BRD1 c.2301A>G p.P767P Substitution - coding silent Liver COSM5778249 BRWD1 c.6680A>T p.K2227I Substitution - Missense Breast COSM1713408 PHF20 c.280C>T p.L94F Substitution - Missense Skin COSM3425356 BAZ2B c.4665G>T p.K1555N Substitution - Missense Large_intestine COSM4384074 NSD1 c.3104C>A p.S1035* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3588189 ZBTB38 c.2790G>A p.Q930Q Substitution - coding silent Skin COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Urinary_tract COSM3461593 KMT2D c.3105C>T p.F1035F Substitution - coding silent Skin COSM975858 NCOR1 c.6633G>T p.E2211D Substitution - Missense Endometrium COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3734563 KDM6A c.690delA p.Q230fs*12 Deletion - Frameshift Pancreas COSM1675664 MGMT c.371C>T p.P124L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1641364 ZMYND8 c.1964delA p.K655fs*14 Deletion - Frameshift Large_intestine COSM1117761 HCFC1 c.1070C>T p.P357L Substitution - Missense Endometrium COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM110769 TET2 c.5612T>G p.I1871S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1669318 BAZ2B c.2104G>T p.G702C Substitution - Missense Large_intestine COSM5021799 PHF11 c.171A>G p.L57L Substitution - coding silent Bone COSM1171715 KAT6B c.338G>A p.R113K Substitution - Missense Oesophagus COSM4060698 CREBBP c.5404G>A p.V1802M Substitution - Missense Stomach COSM3360374 ASH1L c.3511C>T p.P1171S Substitution - Missense Kidney COSM3589877 MECOM c.1470G>A p.L490L Substitution - coding silent Skin COSM286721 ZMYM1 c.2449C>T p.L817L Substitution - coding silent Large_intestine COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Biliary_tract COSM4188204 ZMYM6 c.1276_1278delGTT p.V426delV Deletion - In frame Kidney COSM941571 SMARCC2 c.165G>T p.Q55H Substitution - Missense Endometrium COSM4423636 ATRX c.6620T>G p.L2207R Substitution - Missense Central_nervous_system COSM1458077 NCOA2 c.1081A>G p.T361A Substitution - Missense Large_intestine COSM5669839 RBBP7 c.545T>C p.L182P Substitution - Missense Soft_tissue COSM5652322 SMARCC2 c.1193A>C p.N398T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4018327 KMT2A c.7980A>G p.S2660S Substitution - coding silent Stomach COSM903695 SMYD2 c.895C>T p.R299C Substitution - Missense Endometrium COSM1465508 SMARCA1 c.2257C>T p.R753C Substitution - Missense Stomach COSM4001922 ZMYND8 c.2315T>C p.V772A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM426008 ARID1A c.3715G>A p.A1239T Substitution - Missense Breast COSM1191083 CREBBP c.3883_3884insT p.L1296fs*4 Insertion - Frameshift Lung COSM4513718 HDAC4 c.948C>T p.I316I Substitution - coding silent Skin COSM4169928 CREBBP c.3671A>G p.D1224G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3474773 PYGO2 c.446C>T p.P149L Substitution - Missense Skin COSM5573721 KDM6A c.3145-1G>A p.? Unknown Prostate COSM1386960 CBX4 c.690delC p.N231fs*3 Deletion - Frameshift Large_intestine COSM3933593 ING5 c.702G>A p.Q234Q Substitution - coding silent Urinary_tract COSM1103 SMARCB1 c.?_?del? p.?del Deletion - In frame Soft_tissue COSM3355894 GATAD2B c.679T>A p.S227T Substitution - Missense Breast COSM36166 ASXL1 c.1772_1773insA p.Y591fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5014772 KMT2C c.5318T>C p.L1773P Substitution - Missense Kidney COSM393284 CHD9 c.3337A>G p.I1113V Substitution - Missense Lung COSM1753242 SMARCC1 c.3003G>C p.L1001L Substitution - coding silent Urinary_tract COSM4159840 PRDM9 c.2191A>G p.N731D Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM221156 KMT2D c.9844_9845insA p.A3282fs*4 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2077938 HDAC1 c.1126G>A p.A376T Substitution - Missense Breast COSM988865 CXXC1 c.167G>A p.R56Q Substitution - Missense Endometrium COSM3596186 PBRM1 c.2411T>A p.L804* Substitution - Nonsense Skin COSM4929481 GLYATL1 c.298G>A p.D100N Substitution - Missense Liver COSM88743 CREBBP c.4507T>G p.Y1503D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM384187 HDGF c.241G>A p.G81R Substitution - Missense Lung COSM22622 MEN1 c.620delG p.G208fs*16 Deletion - Frameshift Small_intestine COSM211589 KDM6B c.4432T>G p.C1478G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5950214 NSD1 c.4967G>T p.G1656V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM896924 ASH1L c.4483T>C p.S1495P Substitution - Missense Endometrium COSM313158 NCOA7 c.845A>G p.N282S Substitution - Missense Lung COSM706747 AKAP1 c.1237G>T p.A413S Substitution - Missense Lung COSM22033 NCOA3 c.1496C>T p.P499L Substitution - Missense Skin COSM4425640 NCOA3 c.3727G>A p.V1243M Substitution - Missense Oesophagus COSM1363039 SMARCC2 c.3128delC p.P1043fs*18 Deletion - Frameshift Large_intestine COSM4595974 CHD9 c.199G>C p.D67H Substitution - Missense Upper_aerodigestive_tract COSM219342 KDM4C c.2182+8G>A p.? Unknown Breast COSM24936 HNF1A c.631C>T p.Q211* Substitution - Nonsense Liver COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5913424 KMT2D c.14756G>A p.G4919E Substitution - Missense Skin COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5945693 ATRX c.? p.R808* Substitution - Nonsense Central_nervous_system COSM1341426 ARID1A c.5542delG p.D1850fs*33 Deletion - Frameshift Endometrium COSM1359475 KDM2B c.2170_2171delTG p.C724fs*14 Deletion - Frameshift Large_intestine COSM4519871 LMNB2 c.971G>A p.G324E Substitution - Missense Skin COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1583075 DNMT3A c.1581G>C p.Q527H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4928244 TRIM28 c.1121G>A p.R374Q Substitution - Missense Liver COSM3188406 KAT2A c.223delG p.D75fs*7 Deletion - Frameshift Large_intestine COSM22568 MEN1 c.325G>T p.E109* Substitution - Nonsense Adrenal_gland COSM738279 PRDM9 c.1475G>A p.R492K Substitution - Missense Skin COSM1580526 ARID1A c.4879C>G p.P1627A Substitution - Missense Endometrium COSM5642798 DNMT3B c.1899G>A p.K633K Substitution - coding silent Oesophagus COSM3142259 CHD1 c.4086G>A p.K1362K Substitution - coding silent Large_intestine COSM5021262 RERE c.1419A>G p.T473T Substitution - coding silent Bone COSM4760508 TTF2 c.2963G>A p.R988Q Substitution - Missense Stomach COSM5708161 DNMT3A c.356A>T p.E119V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5758517 DAXX c.540G>A p.R180R Substitution - coding silent Bone COSM4571648 NCOA1 c.506T>G p.V169G Substitution - Missense Skin COSM1615599 CHD6 c.1975T>C p.F659L Substitution - Missense Liver COSM3879496 KMT2C c.14552G>A p.C4851Y Substitution - Missense Stomach COSM4064355 RAI1 c.3894C>T p.P1298P Substitution - coding silent Stomach COSM1559373 HNF1A c.1545G>A p.T515T Substitution - coding silent Thyroid COSM724824 DIDO1 c.1791G>A p.R597R Substitution - coding silent Lung COSM1387266 KDM6B c.2154C>T p.G718G Substitution - coding silent Stomach COSM5341310 TAF3 c.744G>A p.M248I Substitution - Missense Large_intestine COSM1183887 ATF7IP c.475C>G p.P159A Substitution - Missense Large_intestine COSM5725536 RTF1 c.1611C>T p.H537H Substitution - coding silent Skin COSM5703958 SIRT3 c.446G>A p.S149N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM227783 MYST3 c.1511C>T p.P504L Substitution - Missense Skin COSM5574211 NCOR1 c.6322C>T p.Q2108* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4074032 SMARCA4 c.2079A>C p.P693P Substitution - coding silent Stomach COSM5490566 KMT2D c.15143T>C p.L5048S Substitution - Missense Biliary_tract COSM1368702 MTA1 c.888C>T p.F296F Substitution - coding silent Large_intestine COSM1609554 PRMT7 c.751G>A p.D251N Substitution - Missense Liver COSM2270775 MGA c.1497T>A p.S499S Substitution - coding silent Central_nervous_system COSM4798304 BAHCC1 c.931G>A p.G311S Substitution - Missense Liver COSM1311011 NSD1 c.5319G>C p.E1773D Substitution - Missense Urinary_tract COSM480136 SETD2 c.5730-2A>T p.? Unknown Kidney COSM3859972 ARID1B c.2772G>A p.P924P Substitution - coding silent Stomach COSM5566044 CXXC1 c.1294C>T p.R432C Substitution - Missense Prostate COSM591873 PRDM9 c.2412T>C p.Y804Y Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5775100 NCOA1 c.4066-6T>G p.? Unknown Breast COSM43397 SETD2 c.3337G>A p.D1113N Substitution - Missense Kidney COSM4666314 BTAF1 c.4699C>T p.H1567Y Substitution - Missense Large_intestine COSM1319429 SMC1A c.2563G>T p.E855* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5135166 EHMT2 c.3060G>A p.A1020A Substitution - coding silent Large_intestine COSM1685375 TET2 c.3619G>C p.E1207Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1735912 PHF1 c.47delG p.D17fs*135 Deletion - Frameshift Central_nervous_system COSM1682269 CBX6 c.947C>T p.S316F Substitution - Missense Large_intestine COSM74134 CHD1 c.612G>T p.K204N Substitution - Missense Ovary COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM4387049 SETDB1 c.1322C>G p.T441S Substitution - Missense Lung COSM1677696 TDRD3 c.1948C>T p.R650W Substitution - Missense Large_intestine COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5610635 SMARCA4 c.4484C>T p.P1495L Substitution - Missense Skin COSM5944254 TET2 c.1005_1006delTG p.A336fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4819570 NSD1 c.3654G>A p.L1218L Substitution - coding silent Cervix COSM3674228 PRDM8 c.915C>A p.I305I Substitution - coding silent Prostate COSM4754809 KMT2D c.11141T>A p.L3714* Substitution - Nonsense Stomach COSM2067865 ARID2 c.4384C>T p.Q1462* Substitution - Nonsense Biliary_tract COSM3563249 HDAC8 c.624C>T p.F208F Substitution - coding silent Skin COSM4698240 LMNB2 c.452G>A p.R151H Substitution - Missense Large_intestine COSM5466163 GABRG1 c.809T>C p.M270T Substitution - Missense Large_intestine COSM1472509 PRDM2 c.831_832insGAA p.E282_D283insE Insertion - In frame Upper_aerodigestive_tract COSM5470681 HDAC5 c.1973G>A p.R658H Substitution - Missense Large_intestine COSM5708975 TET2 c.5582G>A p.G1861E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4538335 SETDB1 c.2535G>A p.E845E Substitution - coding silent Skin COSM4706970 NIPBL c.1217C>G p.T406S Substitution - Missense Large_intestine COSM1416616 TCF20 c.4737delA p.K1579fs*36 Deletion - Frameshift Small_intestine COSM3443967 KMT2A c.5124A>G p.L1708L Substitution - coding silent Skin COSM1075248 JARID2 c.1792G>A p.E598K Substitution - Missense Endometrium COSM341204 EYA3 c.755A>G p.Q252R Substitution - Missense Lung COSM4590784 ATF7IP c.2647C>A p.Q883K Substitution - Missense Upper_aerodigestive_tract COSM693639 KMT2D c.400+1G>A p.? Unknown Lung COSM1303910 DNMT1 c.3531C>T p.F1177F Substitution - coding silent Urinary_tract COSM1333893 SETDB1 c.2046C>T p.I682I Substitution - coding silent Large_intestine COSM3486476 SMYD3 c.615C>T p.F205F Substitution - coding silent Skin COSM5636232 SUV39H2 c.829C>G p.L277V Substitution - Missense Oesophagus COSM1072904 NCOA7 c.41A>T p.Y14F Substitution - Missense Endometrium COSM2023460 PWWP2B c.251delC p.P86fs*100 Deletion - Frameshift Large_intestine COSM2030674 PRMT5 c.1815C>T p.C605C Substitution - coding silent Large_intestine COSM2920035 CREBBP c.1802G>A p.R601Q Substitution - Missense Large_intestine COSM4065094 PHF12 c.811G>A p.V271I Substitution - Missense Stomach COSM5552625 DIDO1 c.2773G>A p.D925N Substitution - Missense Prostate COSM483496 SHPRH c.750T>A p.N250K Substitution - Missense Kidney COSM21471 HNF1A c.617G>T p.W206L Substitution - Missense Liver COSM96935 ATRX c.789G>A p.W263* Substitution - Nonsense Central_nervous_system COSM111693 KAT6B c.3289_3291delGAA p.E1097delE Deletion - In frame Upper_aerodigestive_tract COSM5599941 KMT2D c.7252G>T p.E2418* Substitution - Nonsense Skin COSM1672692 HDAC2 c.562T>G p.F188V Substitution - Missense Large_intestine COSM5646026 INO80B c.212+1G>C p.? Unknown Oesophagus COSM3563146 TAF1 c.1601C>T p.S534F Substitution - Missense Skin COSM42036 TET2 c.3571C>T p.Q1191* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4649151 TRRAP c.8081A>G p.H2694R Substitution - Missense Large_intestine COSM3053492 SMEK2 c.492C>G p.L164L Substitution - coding silent Upper_aerodigestive_tract COSM5485345 KDM5C c.2783C>T p.A928V Substitution - Missense Large_intestine COSM3960268 UHRF1 c.1430G>T p.G477V Substitution - Missense Lung COSM4803436 KAT6B c.4294A>C p.S1432R Substitution - Missense Liver COSM383103 SMARCC2 c.880G>T p.G294* Substitution - Nonsense Lung COSM390459 MEN1 c.329G>C p.G110A Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4672120 CHD9 c.7504G>T p.D2502Y Substitution - Missense Large_intestine COSM5627826 L3MBTL4 c.1711G>C p.D571H Substitution - Missense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3749492 DOT1L c.4156G>A p.G1386S Substitution - Missense Large_intestine COSM219021 RBBP7 c.908G>A p.R303H Substitution - Missense Pancreas COSM5685937 KDM5A c.2151-16_2151-3delTTTTTTTTTTTTGT p.? Unknown Soft_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM923601 KMT2A c.10815G>A p.G3605G Substitution - coding silent Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3923409 STK31 c.1606C>T p.L536L Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4712694 PCGF2 c.129C>T p.I43I Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4447301 TDRD1 c.1126-3C>T p.? Unknown Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1680658 SMARCA4 c.1252C>T p.Q418* Substitution - Nonsense Lung COSM3902422 TDRD7 c.2228C>T p.T743I Substitution - Missense Stomach COSM1347491 ZMYND11 c.1676G>A p.R559H Substitution - Missense Large_intestine COSM150645 TDRD7 c.449T>C p.V150A Substitution - Missense Large_intestine COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Bone COSM3465560 APOBEC1 c.55G>A p.E19K Substitution - Missense Skin COSM1130773 MSH6 c.1147A>G p.R383G Substitution - Missense Prostate COSM969915 SRCAP c.424G>A p.E142K Substitution - Missense Endometrium COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5482107 KMT2C c.13249G>T p.A4417S Substitution - Missense Large_intestine COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM3985754 KAT6B c.282G>T p.G94G Substitution - coding silent Kidney COSM1681609 ASXL1 c.1773C>A p.Y591* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3721156 CBX4 c.1524A>G p.A508A Substitution - coding silent Oesophagus COSM221010 KMT2D c.7396C>T p.Q2466* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM324799 BAZ2B c.2712G>C p.L904F Substitution - Missense Lung COSM6011365 WHSC1 c.1726G>A p.E576K Substitution - Missense Skin COSM397683 MBD5 c.1947G>A p.M649I Substitution - Missense Lung COSM5681224 YY1 c.450G>T p.L150L Substitution - coding silent Soft_tissue COSM1745750 ZMYND11 c.247C>T p.H83Y Substitution - Missense Skin COSM1101405 NCOA2 c.3986G>A p.R1329Q Substitution - Missense Endometrium COSM3458228 EP400 c.2960G>C p.R987T Substitution - Missense Skin COSM367932 BRWD3 c.3956G>T p.R1319L Substitution - Missense Lung COSM3592256 ZCWPW2 c.883G>A p.G295R Substitution - Missense Skin COSM5625695 PHF14 c.1213C>T p.H405Y Substitution - Missense Oesophagus COSM1071057 BRD9 c.1035C>T p.D345D Substitution - coding silent Endometrium COSM263595 SETBP1 c.666G>A p.W222* Substitution - Nonsense Large_intestine COSM3649296 MYST3 c.3756C>T p.A1252A Substitution - coding silent Skin COSM24923 HNF1A c.779C>T p.T260M Substitution - Missense Liver COSM990 SMARCB1 c.778C>T p.Q260* Substitution - Nonsense Central_nervous_system COSM997 SMARCB1 c.1102C>T p.Q368* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM22577 MEN1 c.247_250delCTGT p.I85fs*33 Deletion - Frameshift Small_intestine COSM30494 SETD2 c.2659delT p.S887fs*4 Deletion - Frameshift Kidney COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51485 ARID1A c.4386_4387insA p.R1463fs*28 Insertion - Frameshift Ovary COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM51251 ARID1A c.1650_1651insC p.Y551fs*72 Insertion - Frameshift Large_intestine COSM77329 BAP1 c.679C>T p.R227C Substitution - Missense Ovary COSM144224 ATRX c.4745_4746insA p.K1584fs*17 Insertion - Frameshift Central_nervous_system COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Lung COSM300506 TRRAP c.3910G>A p.A1304T Substitution - Missense Liver COSM297923 ZMYM6 c.1100C>T p.A367V Substitution - Missense Stomach COSM297202 PRDM2 c.4459delA p.V1490fs*74 Deletion - Frameshift Stomach COSM311727 HDAC8 c.817C>A p.P273T Substitution - Missense Soft_tissue COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Large_intestine COSM323642 STK31 c.1577G>T p.W526L Substitution - Missense Lung COSM981379 MBTD1 c.869C>A p.T290N Substitution - Missense Endometrium COSM983350 BPTF c.7579C>A p.L2527I Substitution - Missense Endometrium COSM696356 TDRD3 c.75C>T p.S25S Substitution - coding silent Lung COSM939528 ARID2 c.5487A>C p.K1829N Substitution - Missense Endometrium COSM757606 HDAC8 c.733G>T p.E245* Substitution - Nonsense Lung COSM913230 BRDT c.844G>T p.E282* Substitution - Nonsense Endometrium COSM935974 HNF1A c.862delG p.P291fs*51 Deletion - Frameshift Large_intestine COSM895003 PRDM2 c.773C>T p.A258V Substitution - Missense Endometrium COSM990445 DNMT1 c.2364C>T p.N788N Substitution - coding silent Endometrium COSM999088 UHRF1 c.781G>A p.E261K Substitution - Missense Endometrium COSM1007238 MBD5 c.3637G>A p.E1213K Substitution - Missense Skin COSM1693441 MBD4 c.1554G>T p.K518N Substitution - Missense Skin COSM961509 MGA c.3463C>T p.R1155* Substitution - Nonsense Endometrium COSM1060894 PHF15 c.1368G>A p.Q456Q Substitution - coding silent Endometrium COSM1077968 RING1 c.436C>T p.R146C Substitution - Missense Large_intestine COSM1111295 PHF2 c.848G>A p.R283H Substitution - Missense Endometrium COSM1127028 ZMYM4 c.2444A>G p.K815R Substitution - Missense Prostate COSM1127029 ZMYM1 c.1590A>G p.Q530Q Substitution - coding silent Prostate COSM1117739 HCFC1 c.2942C>T p.P981L Substitution - Missense Large_intestine COSM1079884 TDRD6 c.1559_1560delTG p.C521fs*8 Deletion - Frameshift Endometrium COSM1235472 TET2 c.5167C>T p.P1723S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1232739 WHSC1 c.2383G>A p.G795R Substitution - Missense Large_intestine COSM1197087 BAZ1B c.3914C>T p.P1305L Substitution - Missense Lung COSM1257805 MLL5 c.2620C>T p.R874* Substitution - Nonsense Oesophagus COSM1267544 TCF19 c.696G>A p.A232A Substitution - coding silent Breast COSM1262067 PHF6 c.570G>T p.M190I Substitution - Missense Oesophagus COSM1256213 L3MBTL3 c.1837A>G p.R613G Substitution - Missense Stomach COSM1312342 PHF3 c.4357C>T p.Q1453* Substitution - Nonsense Urinary_tract COSM1288407 TDRD6 c.590C>A p.A197D Substitution - Missense Autonomic_ganglia COSM1283683 BRWD3 c.1720G>T p.D574Y Substitution - Missense Autonomic_ganglia COSM1286203 KMT2A c.3435A>C p.P1145P Substitution - coding silent Autonomic_ganglia COSM1386241 JMJD6 c.724C>T p.R242W Substitution - Missense Large_intestine COSM1429841 GABRG1 c.506G>A p.R169Q Substitution - Missense Large_intestine COSM1423637 DHX30 c.141A>C p.L47F Substitution - Missense Large_intestine COSM1412227 EYA2 c.1116C>T p.G372G Substitution - coding silent Large_intestine COSM1427015 PHF17 c.1175delC p.R394fs*20 Deletion - Frameshift Large_intestine COSM1441822 ARID1B c.4181C>T p.S1394L Substitution - Missense Large_intestine COSM1361700 ARID2 c.3438G>A p.S1146S Substitution - coding silent Stomach COSM1347630 EPC1 c.301A>G p.I101V Substitution - Missense Large_intestine COSM1615724 ADNP c.809T>A p.L270Q Substitution - Missense Liver COSM1614639 ING5 c.637C>A p.H213N Substitution - Missense Liver COSM1583102 DNMT3A c.2114T>C p.I705T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1626142 ATRX c.1907A>C p.N636T Substitution - Missense Liver COSM1676246 SUV420H1 c.2095C>T p.R699* Substitution - Nonsense Large_intestine COSM1675426 BTAF1 c.5215C>T p.R1739W Substitution - Missense Large_intestine COSM1716665 ATRX c.2627delC p.S876fs*29 Deletion - Frameshift Central_nervous_system COSM1721879 EP400 c.88_89insC p.H31fs*34 Insertion - Frameshift Thyroid COSM1699145 MLL5 c.2755G>C p.D919H Substitution - Missense Skin COSM1756479 RBBP7 c.72G>A p.K24K Substitution - coding silent Urinary_tract COSM2150638 TDRD6 c.3138T>A p.D1046E Substitution - Missense Central_nervous_system COSM2157079 TRIM33 c.1319G>A p.R440H Substitution - Missense Central_nervous_system COSM2153387 NCOA6 c.247C>A p.L83I Substitution - Missense Central_nervous_system COSM2098405 CHD4 c.4047C>A p.S1349S Substitution - coding silent Upper_aerodigestive_tract COSM2866821 TRRAP c.9405G>A p.E3135E Substitution - coding silent Large_intestine COSM3262542 KMT2C c.11170G>A p.E3724K Substitution - Missense Breast COSM3304177 KMT2C c.5971delT p.S1991fs*9 Deletion - Frameshift Large_intestine COSM3304197 KMT2C c.5071G>A p.A1691T Substitution - Missense Stomach COSM3363784 ZBTB33 c.1252T>A p.L418I Substitution - Missense Kidney COSM3368868 CBX5 c.84G>T p.R28S Substitution - Missense Thyroid COSM3384420 KMT2D c.1077C>T p.R359R Substitution - coding silent Pancreas COSM3501415 TP53BP1 c.4401C>T p.F1467F Substitution - coding silent Skin COSM3473524 SETDB1 c.1479C>T p.S493S Substitution - coding silent Skin COSM3461541 KMT2D c.11631C>T p.S3877S Substitution - coding silent Skin COSM3632396 ING3 c.898C>T p.R300* Substitution - Nonsense Skin COSM3589883 MECOM c.1092G>A p.G364G Substitution - coding silent Skin COSM3583863 SMYD1 c.475C>T p.P159S Substitution - Missense Skin COSM3580231 NCOA1 c.3433C>T p.P1145S Substitution - Missense Skin COSM3656608 SMARCA2 c.4173C>T p.I1391I Substitution - coding silent Stomach COSM3686221 BRWD1 c.3901-3delT p.? Unknown Large_intestine COSM3673673 NCOA1 c.3143C>A p.P1048Q Substitution - Missense Prostate COSM3668496 NCOA5 c.437A>T p.D146V Substitution - Missense Liver COSM3707813 NCOA3 c.385A>G p.N129D Substitution - Missense Liver COSM3719956 PRMT10 c.1071G>T p.M357I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3722551 KMT2D c.6669G>T p.G2223G Substitution - coding silent Soft_tissue COSM3735032 SMARCA4 c.1419+1G>T p.? Unknown Ovary COSM3747658 HDGFL1 c.565A>G p.T189A Substitution - Missense Biliary_tract COSM3809664 PHRF1 c.442G>A p.D148N Substitution - Missense Breast COSM3840181 KDM3A c.1434T>C p.A478A Substitution - coding silent Breast COSM3848239 SMARCA2 c.705G>A p.Q235Q Substitution - coding silent Large_intestine COSM3927489 NIPBL c.6764-4G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3916751 SETD5_ENST00000402198 c.3115C>T p.R1039C Substitution - Missense Skin COSM3912954 PHF21B c.1500G>A p.T500T Substitution - coding silent Large_intestine COSM3912233 DNMT3L c.84C>T p.S28S Substitution - coding silent Skin COSM3974687 PRDM5 c.1698G>A p.T566T Substitution - coding silent Central_nervous_system COSM4085879 BAZ2B c.6145C>T p.Q2049* Substitution - Nonsense Stomach COSM4086767 HAT1 c.755A>G p.H252R Substitution - Missense Stomach COSM4118023 SETD2 c.110G>A p.R37Q Substitution - Missense Stomach COSM4148989 PHC1 c.2554C>T p.R852C Substitution - Missense Ovary COSM41598 ASXL1 c.1210C>T p.R404* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4581796 ACTR5 c.733A>T p.I245F Substitution - Missense Bone COSM4546620 PHF21B c.403G>A p.E135K Substitution - Missense Skin COSM4434800 RBBP7 c.1202G>A p.W401* Substitution - Nonsense Oesophagus COSM4530593 L3MBTL3 c.1710G>T p.K570N Substitution - Missense Skin COSM4477678 EPC2 c.2174C>T p.S725F Substitution - Missense Skin COSM4476173 ASXL1 c.2049C>T p.T683T Substitution - coding silent Skin COSM4480504 KAT2A c.2426C>T p.P809L Substitution - Missense Skin COSM4720586 RBBP7 c.506A>C p.D169A Substitution - Missense Large_intestine COSM4731934 TAF1 c.2567-1G>T p.? Unknown Large_intestine COSM4672089 CHD7 c.5711C>A p.P1904H Substitution - Missense Large_intestine COSM4713967 PHF2 c.421G>T p.A141S Substitution - Missense Large_intestine COSM4714046 PHIP c.3383T>C p.V1128A Substitution - Missense Large_intestine COSM4626425 TAF1L c.3732G>T p.R1244R Substitution - coding silent Large_intestine COSM4616228 ZBTB4 c.1820G>A p.R607Q Substitution - Missense Large_intestine COSM4607886 KDM3B c.4463G>T p.W1488L Substitution - Missense Adrenal_gland COSM4619348 KIAA2026_ENST00000399933 c.2910G>C p.Q970H Substitution - Missense Large_intestine COSM4614028 EYA4 c.212delA p.N72fs*2 Deletion - Frameshift Large_intestine COSM4756664 BPTF c.4976C>T p.T1659M Substitution - Missense Stomach COSM4803581 TAF1 c.864G>T p.Q288H Substitution - Missense Liver COSM4880708 BAP1 c.1619G>A p.R540H Substitution - Missense Prostate COSM4925599 HNF1A c.976G>T p.A326S Substitution - Missense Liver COSM4955315 PRDM5 c.1777A>G p.M593V Substitution - Missense Liver COSM4990555 ARID1A c.3727G>A p.D1243N Substitution - Missense Skin COSM4991206 SMARCA4 c.223C>A p.P75T Substitution - Missense Skin COSM4991360 ASXL1 c.1455T>C p.S485S Substitution - coding silent Skin COSM5047707 PRDM9 c.1372G>C p.E458Q Substitution - Missense Oesophagus COSM5346966 ARID1A c.4903_4904insT p.R1636fs*12 Insertion - Frameshift Endometrium COSM5346260 ARID2 c.593A>T p.K198I Substitution - Missense Urinary_tract COSM5356992 DUSP1 c.874C>T p.R292* Substitution - Nonsense Large_intestine COSM5492337 KMT2C c.14073C>T p.Y4691Y Substitution - coding silent Biliary_tract COSM5484792 BRD9 c.1060G>A p.G354R Substitution - Missense Large_intestine COSM5427115 KMT2A c.4186G>A p.D1396N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5441274 AKAP1 c.436G>C p.E146Q Substitution - Missense Oesophagus COSM5770160 IDH1 c.49G>A p.E17K Substitution - Missense Breast COSM5771186 BAZ2A c.5640G>C p.R1880R Substitution - coding silent Breast COSM5734841 ARID2 c.76delT p.F26fs*32 Deletion - Frameshift Pancreas COSM5720696 PHF3 c.776C>T p.S259L Substitution - Missense Skin COSM5744321 NIPBL c.724G>A p.G242S Substitution - Missense Small_intestine COSM5721817 KMT2A c.4522G>A p.E1508K Substitution - Missense Skin COSM5589848 BTAF1 c.3703C>T p.Q1235* Substitution - Nonsense Skin COSM5696909 KDM5A c.3807A>G p.L1269L Substitution - coding silent Soft_tissue COSM5574175 ARID1A c.6305C>A p.P2102H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5559096 MGA c.7907T>C p.L2636S Substitution - Missense Prostate COSM5778731 SRCAP c.6985C>T p.R2329* Substitution - Nonsense Breast COSM5785868 TDRD1 c.515G>A p.R172H Substitution - Missense Breast COSM5811321 KDM3A c.3314G>T p.G1105V Substitution - Missense Liver COSM5796140 KMT2C c.3882G>A p.G1294G Substitution - coding silent Breast COSM5948969 KMT2D c.13458delA p.K4486fs*41 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5951598 HDAC4 c.1939C>T p.P647S Substitution - Missense Oesophagus COSM5967147 ARID1A c.356_365del10 p.E119fs*110 Deletion - Frameshift Salivary_gland COSM5978622 DHX30 c.3052G>A p.V1018M Substitution - Missense Upper_aerodigestive_tract COSM6014191 SIRT3 c.197C>T p.P66L Substitution - Missense Skin COSM5970449 ACTR6 c.1186A>G p.I396V Substitution - Missense Upper_aerodigestive_tract COSM42074 TET2 c.4713_4714insGAGA p.R1572fs*7 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Thyroid COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1685350 EZH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41709 TET2 c.4317_4318insA p.R1440fs*38 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1716803 TET2 c.? p.S714* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM43413 TET2 c.?_?ins? p.?fs Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5415908 TET2 c.? p.L199* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3594662 SETD2 c.3680C>T p.S1227F Substitution - Missense Skin COSM2007377 KMT2D c.1940delC p.P647fs*38 Deletion - Frameshift Prostate COSM3899934 ASH2L c.777+1G>C p.? Unknown Stomach COSM5765489 TET2 c.5767G>A p.E1923K Substitution - Missense Large_intestine COSM1626413 SETDB1 c.3638A>T p.K1213M Substitution - Missense Liver COSM3727849 TRIM66 c.1888C>G p.L630V Substitution - Missense Upper_aerodigestive_tract COSM4732922 TDRD7 c.2849G>C p.S950T Substitution - Missense Large_intestine COSM905717 KDM1A c.1926C>T p.C642C Substitution - coding silent Oesophagus COSM1012893 ASXL1 c.1896C>A p.C632* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4994321 SETD4 c.1275C>T p.L425L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3729906 MBD4 c.939delA p.E314fs*4 Deletion - Frameshift Large_intestine COSM4448907 CARM1 c.1424+1G>A p.? Unknown Skin COSM4607519 MEN1 c.1342G>T p.E448* Substitution - Nonsense Adrenal_gland COSM5751175 IDH2 c.445_446insC p.R149fs*123 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4148731 INOC1 c.4407G>A p.A1469A Substitution - coding silent Thyroid COSM728094 ZBTB38 c.1899G>T p.L633F Substitution - Missense Lung COSM4998744 PHF13 c.293T>G p.L98W Substitution - Missense Pancreas COSM129643 TDRD5 c.2881G>C p.A961P Substitution - Missense Upper_aerodigestive_tract COSM4161764 SND1 c.2064T>C p.T688T Substitution - coding silent Thyroid COSM5878984 TET2 c.2597_2616del20 p.Q866fs*28 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3871643 ARID2 c.3778G>T p.E1260* Substitution - Nonsense Skin COSM1107708 SMARCA2 c.1403C>T p.S468F Substitution - Missense Endometrium COSM1391078 BRD4 c.1894C>T p.R632C Substitution - Missense Large_intestine COSM5656319 CREBBP c.5034_5036delCTC p.S1680delS Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM4553598 CCDC101 c.595G>A p.G199S Substitution - Missense Skin COSM86976 IKZF1 c.1-?_40+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1707741 UBR7 c.230C>T p.A77V Substitution - Missense Skin COSM1178926 ZMYM3 c.143_144insC p.G49fs*13 Insertion - Frameshift Prostate COSM4070313 CBX4 c.1512G>A p.A504A Substitution - coding silent Stomach COSM3854578 PRDM9 c.2611G>A p.D871N Substitution - Missense Stomach COSM357408 ACTL6B c.951C>G p.N317K Substitution - Missense Lung COSM53041 EZH2 c.2195+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41644 TET2 c.1648C>T p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4677512 DIDO1 c.2407G>T p.E803* Substitution - Nonsense Large_intestine COSM939959 KMT2D c.15692G>A p.R5231Q Substitution - Missense Endometrium COSM3636561 KMT2C c.742A>T p.T248S Substitution - Missense Skin COSM5812617 AIRE c.859A>T p.S287C Substitution - Missense Liver COSM1605105 KDM2A c.2416C>T p.P806S Substitution - Missense Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4463557 CHD6 c.1297C>T p.P433S Substitution - Missense Skin COSM52825 PBRM1 c.3393delA p.E1132fs*27 Deletion - Frameshift Kidney COSM5415910 TET2 c.? p.E1319* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1349117 KAT6B c.1387C>T p.R463C Substitution - Missense Large_intestine COSM3974610 BRPF1 c.1200C>T p.C400C Substitution - coding silent Central_nervous_system COSM4591407 DIDO1 c.4872G>C p.K1624N Substitution - Missense Upper_aerodigestive_tract COSM1077624 BAG6 c.1521G>T p.R507R Substitution - coding silent Endometrium COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1201015 CHD8 c.5608G>A p.D1870N Substitution - Missense Large_intestine COSM3466325 PHC1 c.499C>T p.R167W Substitution - Missense Skin COSM3718058 SMARCA4 c.3910C>T p.Q1304* Substitution - Nonsense Liver COSM350272 AIRE c.608G>A p.R203Q Substitution - Missense Skin COSM3364171 TAF1 c.4940C>G p.P1647R Substitution - Missense Kidney COSM4632424 HDAC9 c.1572C>A p.P524P Substitution - coding silent Large_intestine COSM4595458 NCOA2 c.1069C>T p.R357C Substitution - Missense Upper_aerodigestive_tract COSM1611971 DOT1L c.4849G>A p.V1617I Substitution - Missense Liver COSM4622581 ACTA1 c.623G>A p.R208H Substitution - Missense Large_intestine COSM3457096 HNF1A c.555G>A p.L185L Substitution - coding silent Oesophagus COSM480282 BAP1 c.1881C>G p.Y627* Substitution - Nonsense Eye COSM3877554 ING3 c.162A>G p.K54K Substitution - coding silent Stomach COSM3745498 ING3 c.1048C>G p.Q350E Substitution - Missense Liver COSM24288 MGA c.6278C>T p.T2093I Substitution - Missense Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Bone COSM414149 TTF2 c.2554G>T p.E852* Substitution - Nonsense Urinary_tract COSM87001 DNMT3A c.2644C>A p.R882S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4434001 CHD2 c.1462C>A p.Q488K Substitution - Missense Oesophagus COSM4735990 TIF1 c.1265C>A p.S422Y Substitution - Missense Large_intestine COSM1159250 ARID2 c.1716-1G>A p.? Unknown Pancreas COSM2952829 TET2 c.5942A>G p.D1981G Substitution - Missense Large_intestine COSM5376849 TDRD3 c.636G>A p.S212S Substitution - coding silent Skin COSM133034 ASXL1 c.1723C>T p.Q575* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5686533 BPTF c.6423A>G p.Q2141Q Substitution - coding silent Soft_tissue COSM3580221 NCOA1 c.1746C>T p.S582S Substitution - coding silent Skin COSM1061243 BRD8 c.1759T>C p.S587P Substitution - Missense Endometrium COSM3901372 EYA1 c.1446C>T p.A482A Substitution - coding silent Stomach COSM5887336 HDAC9 c.2448G>T p.K816N Substitution - Missense Skin COSM1680496 LMNB2 c.671T>C p.V224A Substitution - Missense Large_intestine COSM4925052 JARID2 c.2062A>G p.R688G Substitution - Missense Liver COSM4956379 KDM4B c.1946C>T p.P649L Substitution - Missense Liver COSM1007242 MBD5 c.4167C>A p.V1389V Substitution - coding silent Endometrium COSM4146785 SETD8 c.362A>G p.K121R Substitution - Missense Oesophagus COSM1108207 TAF1L c.5338G>A p.E1780K Substitution - Missense Stomach COSM4600264 PYGO1 c.721T>G p.F241V Substitution - Missense Upper_aerodigestive_tract COSM1192974 KMT2A c.703_704insA p.I235fs*18 Insertion - Frameshift Lung COSM4451003 KMT2C c.10149A>G p.V3383V Substitution - coding silent Skin COSM3770105 CDYL2 c.532G>A p.G178S Substitution - Missense Soft_tissue COSM1666862 ARID1A c.? p.? Unknown Ovary COSM88091 KMT2D c.4954C>T p.Q1652* Substitution - Nonsense Central_nervous_system COSM5728417 SETD1A c.3098C>T p.S1033F Substitution - Missense Skin COSM5020366 ARID1B c.4470T>C p.H1490H Substitution - coding silent Soft_tissue COSM4774908 TET2 c.1091G>A p.G364D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3508908 SRCAP c.5465C>T p.S1822F Substitution - Missense Skin COSM3485465 KDM1A c.1936C>G p.L646V Substitution - Missense Skin COSM3724496 DNMT3A c.? p.H355fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM1184492 BAZ2B c.4150C>T p.R1384C Substitution - Missense Oesophagus COSM5024673 MBD1 c.1460C>A p.S487Y Substitution - Missense Large_intestine COSM4569885 SHPRH c.2124T>C p.V708V Substitution - coding silent Skin COSM4466271 ZBTB4 c.1425C>T p.A475A Substitution - coding silent Skin COSM4128243 ATAD2B_ENST00000238789 c.3783T>G p.T1261T Substitution - coding silent Ovary COSM2183614 POGZ c.1969C>T p.L657F Substitution - Missense Cervix COSM937158 EP400 c.3633C>T p.I1211I Substitution - coding silent Liver COSM1636157 TAF1L c.4951G>T p.E1651* Substitution - Nonsense Liver COSM4138052 SETD7 c.801C>G p.L267L Substitution - coding silent Ovary COSM3973350 FMR1 c.377T>C p.F126S Substitution - Missense Central_nervous_system COSM1651582 IDH2 c.? p.P167S Substitution - Missense Soft_tissue COSM3647915 ELP3 c.1339T>C p.L447L Substitution - coding silent Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3614498 NSD1 c.2111T>A p.I704N Substitution - Missense Skin COSM3435839 PWWP2B c.1145C>T p.S382F Substitution - Missense Skin COSM1021896 SMEK2 c.291T>G p.I97M Substitution - Missense Endometrium COSM41888 TET2 c.? p.R1214W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1192244 EZH1 c.962G>A p.R321H Substitution - Missense Large_intestine COSM3731844 ATF7IP c.3229C>T p.R1077* Substitution - Nonsense Stomach COSM3636994 HDAC9 c.656G>A p.R219Q Substitution - Missense Skin COSM1319426 SMC1A c.287G>A p.R96H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM677848 TDRD5 c.190G>T p.V64F Substitution - Missense Lung COSM1307305 NCOA6 c.4274G>T p.S1425I Substitution - Missense Urinary_tract COSM3866158 RERE c.2853C>T p.L951L Substitution - coding silent Skin COSM23040 MEN1 c.? p.W183R Substitution - Missense Parathyroid COSM966439 IDH2 c.1206C>T p.C402C Substitution - coding silent Endometrium COSM4109786 SUV39H1 c.871G>T p.D291Y Substitution - Missense Stomach COSM356447 SRCAP c.7635G>T p.L2545F Substitution - Missense Lung COSM5751721 FTO c.857_858insT p.I287fs*13 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5646271 GTF3C1 c.5025G>A p.M1675I Substitution - Missense Oesophagus COSM4054362 BAHD1 c.179G>A p.R60H Substitution - Missense Stomach COSM1008167 BAZ2B c.781A>G p.S261G Substitution - Missense Endometrium COSM5808525 NCOA2 c.552A>G p.G184G Substitution - coding silent Liver COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4040300 EP400 c.8456C>A p.P2819Q Substitution - Missense Stomach COSM159182 ARID4B c.2957A>G p.K986R Substitution - Missense Breast COSM3736847 BRD8 c.673G>T p.G225C Substitution - Missense Upper_aerodigestive_tract COSM4697161 L3MBTL3 c.523C>A p.P175T Substitution - Missense Large_intestine COSM5029059 HCFC1 c.2314G>T p.V772F Substitution - Missense Breast COSM110772 TET2 c.4474G>T p.E1492* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4979790 EP300 c.4065C>G p.Y1355* Substitution - Nonsense Oesophagus COSM373926 ASH1L c.4587G>A p.K1529K Substitution - coding silent Lung COSM360809 CHD2 c.2843G>T p.R948L Substitution - Missense Lung COSM1716912 TET2 c.4678_4679insA p.Y1560fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5439931 SMYD1 c.1086C>A p.S362S Substitution - coding silent Oesophagus COSM4031569 PRDM16 c.3246T>C p.N1082N Substitution - coding silent Stomach COSM1394644 KDM4B c.1832G>A p.R611Q Substitution - Missense Large_intestine COSM4418969 TDRD5 c.2397A>G p.S799S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4925407 L3MBTL4 c.1099A>G p.T367A Substitution - Missense Liver COSM6008922 KMT2A c.8943A>T p.V2981V Substitution - coding silent Large_intestine COSM1341894 PRDM16 c.3369C>T p.D1123D Substitution - coding silent Liver COSM5376476 MPHOSPH8 c.446delC p.P150fs*8 Deletion - Frameshift Skin COSM4140042 SMCHD1 c.3599T>G p.V1200G Substitution - Missense Ovary COSM1377534 SETD1A c.3141C>G p.S1047S Substitution - coding silent Skin COSM1225380 SETD5_ENST00000402198 c.1480G>T p.E494* Substitution - Nonsense Large_intestine COSM4606922 BPTF c.2230G>C p.D744H Substitution - Missense Adrenal_gland COSM4690794 HNF1A c.335C>T p.P112L Substitution - Missense Large_intestine COSM4488057 ASXL3 c.2390C>T p.P797L Substitution - Missense Skin COSM5679757 PRDM9 c.310C>G p.P104A Substitution - Missense Soft_tissue COSM1412225 EYA2 c.1108G>A p.V370M Substitution - Missense Liver COSM1368702 MTA1 c.888C>T p.F296F Substitution - coding silent Skin COSM4110983 HDAC8 c.423G>A p.W141* Substitution - Nonsense Stomach COSM42016 TET2 c.4393C>T p.R1465* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4756660 BPTF c.2377T>C p.S793P Substitution - Missense Stomach COSM5358111 TRIM24 c.767A>G p.Y256C Substitution - Missense Large_intestine COSM703263 SRCAP c.1137A>T p.I379I Substitution - coding silent Lung COSM4761488 EP400 c.7376C>T p.A2459V Substitution - Missense Stomach COSM5729201 MBD5 c.8G>A p.G3E Substitution - Missense Skin COSM1222111 PRMT2 c.1214T>C p.M405T Substitution - Missense Large_intestine COSM4383356 NCOA6 c.2591A>G p.N864S Substitution - Missense Large_intestine COSM5719629 SMYD1 c.1242G>A p.G414G Substitution - coding silent Skin COSM20478 TRRAP c.4952G>A p.R1651H Substitution - Missense Large_intestine COSM3733336 KMT2C c.2263C>T p.Q755* Substitution - Nonsense Upper_aerodigestive_tract COSM1602153 ARID1A c.5561_5562insT p.I1855fs*46 Insertion - Frameshift Liver COSM364652 PRDM9 c.379G>T p.E127* Substitution - Nonsense Lung COSM5808398 BPTF c.2348C>T p.T783I Substitution - Missense Liver COSM4834506 TDRD1 c.1978C>G p.H660D Substitution - Missense Cervix COSM4470814 EYA1 c.1684C>A p.Q562K Substitution - Missense Skin COSM1612005 LMNB2 c.132C>G p.V44V Substitution - coding silent Liver COSM4163285 PHF19 c.407A>C p.D136A Substitution - Missense Thyroid COSM1043289 KAT2B c.871G>A p.V291M Substitution - Missense Endometrium COSM3827999 NIPBL c.2121T>G p.G707G Substitution - coding silent Breast COSM920521 KAT6B c.1444G>T p.G482C Substitution - Missense Endometrium COSM1179543 ERCC6 c.1449G>T p.E483D Substitution - Missense Prostate COSM1716180 EZH2 c.? p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5352285 ARID1A c.? p.H688P Substitution - Missense Endometrium COSM86973 IKZF1 c.161-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5487354 TET2 c.2749C>T p.Q917* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4150131 KMT2D c.8456T>G p.V2819G Substitution - Missense Ovary COSM4500432 TRRAP c.5604C>T p.L1868L Substitution - coding silent Skin COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM1000720 EZH2 c.1969G>C p.D657H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM109801 PRDM1 c.2170C>T p.L724L Substitution - coding silent Skin COSM5957528 ZMYM5 c.97_98insT p.D33fs*13 Insertion - Frameshift Thyroid COSM1026858 CHD6 c.4891T>C p.C1631R Substitution - Missense Endometrium COSM1411733 ACTR5 c.1747G>A p.A583T Substitution - Missense Large_intestine COSM479748 ACTL6A c.990C>A p.T330T Substitution - coding silent Kidney COSM3362719 BRD4 c.1835A>G p.Y612C Substitution - Missense Kidney COSM3154276 PRDM1 c.425A>G p.N142S Substitution - Missense Large_intestine COSM313156 NCOA5 c.788A>T p.H263L Substitution - Missense Lung COSM4639267 BRD3 c.50G>A p.G17D Substitution - Missense Large_intestine COSM1607486 CHD8 c.415T>G p.S139A Substitution - Missense Liver COSM4805278 HCFC2 c.946G>C p.A316P Substitution - Missense Liver COSM3744038 TDRD3 c.74+9C>T p.? Unknown Liver COSM4720573 RBBP5 c.1506A>T p.K502N Substitution - Missense Large_intestine COSM1106295 GTF3C4 c.1291G>A p.A431T Substitution - Missense Endometrium COSM5419418 NSD1 c.6788C>T p.S2263L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM187579 HDAC5 c.3127G>A p.A1043T Substitution - Missense Large_intestine COSM4764898 HDAC4 c.647C>T p.P216L Substitution - Missense Stomach COSM5758755 HELLS c.2263G>C p.G755R Substitution - Missense Bone COSM1093599 TRRAP c.3072C>T p.G1024G Substitution - coding silent Endometrium COSM30585 SMARCA4 c.1677_1761del85 p.? Unknown Prostate COSM287835 TCF20 c.5166A>C p.G1722G Substitution - coding silent Large_intestine COSM3878699 JHDM1D c.2641C>T p.P881S Substitution - Missense Stomach COSM3842704 CBX7 c.211A>C p.K71Q Substitution - Missense Breast COSM4383908 TET2 c.3594+1G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5405452 TDRD6 c.3377C>T p.A1126V Substitution - Missense Skin COSM330643 TET2 c.? p.G364fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM921714 HELLS c.536C>T p.S179L Substitution - Missense Skin COSM5352336 TET2 c.? p.A1865G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5730827 SETD2 c.6019C>T p.R2007C Substitution - Missense Breast COSM208338 TBL1XR1 c.883G>A p.A295T Substitution - Missense Large_intestine COSM1723044 CBX4 c.1198_1200delCAC p.H400delH Deletion - In frame Upper_aerodigestive_tract COSM1008155 BAZ2B c.3757C>T p.R1253C Substitution - Missense Endometrium COSM4152495 PBRM1 c.1955C>A p.S652* Substitution - Nonsense Kidney COSM1437303 NIPBL c.6182C>T p.P2061L Substitution - Missense Large_intestine COSM3493326 BRDT c.965T>A p.I322N Substitution - Missense Skin COSM3637555 STK31 c.2212G>A p.E738K Substitution - Missense Skin COSM5459914 SRCAP c.3050C>T p.A1017V Substitution - Missense Large_intestine COSM5734332 MORF4L2 c.295C>T p.R99W Substitution - Missense Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5064887 ATRX c.4534C>T p.R1512C Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1606208 KMT2D c.6944G>C p.G2315A Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5926699 TAF1L c.3250G>A p.E1084K Substitution - Missense Skin COSM5409825 NCOA2 c.2209C>T p.P737S Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1741155 ZBTB33 c.577_578insTAT p.D193>VY Complex - insertion inframe Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4476394 MUM1 c.2066C>T p.S689L Substitution - Missense Skin COSM2932753 ZGPAT c.1595A>T p.*532L Nonstop extension Large_intestine COSM5087361 PHF19 c.1400+5G>T p.? Unknown Large_intestine COSM5445517 IDH2 c.645C>A p.G215G Substitution - coding silent Oesophagus COSM1353900 PHF21A c.1817delC p.P606fs*>29 Deletion - Frameshift Large_intestine COSM1026884 CHD6 c.138G>T p.E46D Substitution - Missense Endometrium COSM904645 LBR c.357G>A p.P119P Substitution - coding silent Endometrium COSM1447011 MLL5 c.2398_2399insA p.R802fs*8 Insertion - Frameshift Large_intestine COSM5468500 SRCAP c.7515T>G p.C2505W Substitution - Missense Large_intestine COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2154877 PHC2 c.2494G>T p.D832Y Substitution - Missense Central_nervous_system COSM4681091 EP300 c.3603T>C p.C1201C Substitution - coding silent Large_intestine COSM4990262 KMT2D c.5188C>T p.Q1730* Substitution - Nonsense Skin COSM2965393 KDM6A c.2421T>C p.V807V Substitution - coding silent Upper_aerodigestive_tract COSM5011119 PBRM1 c.1443G>T p.Q481H Substitution - Missense Kidney COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM85584 ARID1A c.5947_5948delTG p.S1985fs*13 Deletion - Frameshift Pancreas COSM3765263 BAG6 c.173G>A p.R58Q Substitution - Missense Central_nervous_system COSM1342959 DMAP1 c.70A>T p.T24S Substitution - Missense Large_intestine COSM5774748 ACTL6B c.1079G>T p.R360M Substitution - Missense Breast COSM3625727 PHF1 c.1261C>T p.P421S Substitution - Missense Skin COSM3973875 ATRX c.6607G>T p.E2203* Substitution - Nonsense Central_nervous_system COSM422498 ZMYM3 c.945G>A p.R315R Substitution - coding silent Urinary_tract COSM4917580 KAT2B c.866G>A p.C289Y Substitution - Missense Liver COSM3555545 BRD1 c.1244G>A p.S415N Substitution - Missense Skin COSM5718002 SMARCA4 c.2650C>T p.H884Y Substitution - Missense Skin COSM4170023 SMARCA2 c.2490T>A p.Y830* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM422764 PBRM1 c.892C>T p.R298* Substitution - Nonsense Kidney COSM6006365 PBRM1 c.3862A>G p.I1288V Substitution - Missense Skin COSM3985090 KDM4A c.3091A>G p.T1031A Substitution - Missense Kidney COSM5518112 PRDM2 c.1228C>T p.R410W Substitution - Missense Biliary_tract COSM4060285 SETD1A c.4625G>A p.R1542Q Substitution - Missense Stomach COSM21300 TRRAP c.7323C>T p.F2441F Substitution - coding silent Large_intestine COSM28370 LMNB1 c.111C>A p.R37R Substitution - coding silent Kidney COSM249801 DNMT3A c.1220T>C p.I407T Substitution - Missense Kidney COSM36205 ASXL1 c.3306G>T p.E1102D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43440 TET2 c.1061C>G p.S354* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM43469 TET2 c.4071_4071delG p.E1357fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM76556 SP110 c.520C>G p.P174A Substitution - Missense Large_intestine COSM107700 L3MBTL3 c.2005C>T p.R669W Substitution - Missense Large_intestine COSM110612 TAF1L c.689C>T p.P230L Substitution - Missense Skin COSM110778 TET2 c.4258_4264delTTATACA p.L1420fs*26 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM120168 TET2 c.2185C>T p.Q729* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM132642 SETD5_ENST00000402198 c.1081C>T p.R361* Substitution - Nonsense Large_intestine COSM146277 RAI1 c.840delG p.Q280fs*84 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM221085 KMT2D c.6783delC p.S2262fs*11 Deletion - Frameshift Large_intestine COSM187709 EP300 c.1702C>T p.R568W Substitution - Missense Salivary_gland COSM201010 ING1 c.586C>T p.R196* Substitution - Nonsense Endometrium COSM215730 CBX8 c.539G>A p.R180Q Substitution - Missense Prostate COSM233449 SMARCA4 c.4271C>T p.P1424L Substitution - Missense Skin COSM225883 KMT2C c.2968A>G p.S990G Substitution - Missense Central_nervous_system COSM263650 SHPRH c.1288G>A p.E430K Substitution - Missense Large_intestine COSM279213 BTAF1 c.299G>A p.R100Q Substitution - Missense Large_intestine COSM309889 CCDC101 c.196G>A p.A66T Substitution - Missense Stomach COSM310558 DHX30 c.2657C>T p.A886V Substitution - Missense Lung COSM330872 HDAC7 c.1660C>T p.R554W Substitution - Missense Lung COSM358524 RAG2 c.1446G>T p.V482V Substitution - coding silent Lung COSM386702 CHD2 c.1373G>A p.C458Y Substitution - Missense Lung COSM381207 DHX30 c.1944C>T p.C648C Substitution - coding silent Lung COSM430254 PRDM4 c.623G>C p.G208A Substitution - Missense Breast COSM430522 HNF1A c.79A>C p.I27L Substitution - Missense Liver COSM454721 CHD7 c.1873G>C p.D625H Substitution - Missense Breast COSM466084 BTAF1 c.5008C>T p.P1670S Substitution - Missense Kidney COSM467244 KAT5 c.384+2T>G p.? Unknown Kidney COSM471711 CREBBP c.977C>T p.S326F Substitution - Missense Kidney COSM976045 SMYD4 c.2119C>T p.R707W Substitution - Missense Endometrium COSM481353 CLOCK c.1A>G p.M1V Substitution - Missense Kidney COSM1051391 SETD7 c.934C>T p.R312C Substitution - Missense Endometrium COSM1017605 SP140_ENST00000392045 c.1731G>T p.K577N Substitution - Missense Endometrium COSM751067 CHD7 c.3019C>T p.L1007F Substitution - Missense Lung COSM710123 SMARCA4 c.3636G>C p.E1212D Substitution - Missense Lung COSM907696 ARID1A c.2197_2198insC p.D734fs*83 Insertion - Frameshift Endometrium COSM907763 ARID1A c.6755_6756delCT p.L2253fs*24 Deletion - Frameshift Endometrium COSM1001483 SUV420H2 c.612C>T p.L204L Substitution - coding silent Endometrium COSM990750 SMARCA4 c.2758G>A p.E920K Substitution - Missense Oesophagus COSM969257 GTF3C1 c.2949G>T p.T983T Substitution - coding silent Endometrium COSM1056168 CLOCK c.1337C>G p.S446* Substitution - Nonsense Endometrium COSM1078493 BRPF3 c.3558G>A p.A1186A Substitution - coding silent Endometrium COSM1111303 PHF2 c.2563G>A p.D855N Substitution - Missense Endometrium COSM1128939 BRD7 c.703-1G>T p.? Unknown Prostate COSM1099543 ASH2L c.1754C>A p.P585H Substitution - Missense Endometrium COSM1236245 KDM5A c.1810C>T p.R604C Substitution - Missense Autonomic_ganglia COSM1196233 KMT2D c.12172T>A p.S4058T Substitution - Missense Lung COSM1209395 HDAC9 c.1883G>A p.R628H Substitution - Missense Large_intestine COSM1184493 BAZ2B c.877G>T p.A293S Substitution - Missense Large_intestine COSM1262036 PHF12 c.734G>A p.R245K Substitution - Missense Stomach COSM1263636 PYGO2 c.330G>C p.M110I Substitution - Missense Oesophagus COSM1258616 MYST1 c.1049A>C p.E350A Substitution - Missense Pancreas COSM1693781 MECOM c.965C>T p.S322F Substitution - Missense Skin COSM1265329 SETBP1 c.4688C>T p.P1563L Substitution - Missense Oesophagus COSM1180098 KMT2C c.1005T>A p.P335P Substitution - coding silent Soft_tissue COSM1213492 LMNB2 c.1513G>A p.A505T Substitution - Missense Large_intestine COSM1211720 KDM3A c.52C>A p.L18I Substitution - Missense Large_intestine COSM1185847 DNMT3A c.149G>T p.R50L Substitution - Missense Lung COSM1188958 BAHD1 c.541C>T p.R181W Substitution - Missense Lung COSM1604856 PHRF1 c.3902A>G p.D1301G Substitution - Missense Liver COSM1285541 ING2 c.412G>C p.A138P Substitution - Missense Autonomic_ganglia COSM1331800 SMC1A c.746T>C p.I249T Substitution - Missense Ovary COSM1381229 RAI1 c.453_454insC p.S154fs*84 Insertion - Frameshift Large_intestine COSM1383598 HDAC5 c.1838C>T p.A613V Substitution - Missense Large_intestine COSM1407120 DNMT3A c.575C>T p.A192V Substitution - Missense Stomach COSM1447020 MLL5 c.4412C>A p.S1471* Substitution - Nonsense Liver COSM1468510 KDM5C c.1719C>A p.P573P Substitution - coding silent Large_intestine COSM1367376 SETDB2 c.1510delA p.M506fs*24 Deletion - Frameshift Large_intestine COSM1363776 CHD4 c.417G>T p.E139D Substitution - Missense Skin COSM1351657 KMT2A c.9299delA p.I3102fs*3 Deletion - Frameshift Large_intestine COSM1569707 SMARCA1 c.2761C>T p.R921C Substitution - Missense Large_intestine COSM1566684 PBRM1 c.2211A>G p.T737T Substitution - coding silent Soft_tissue COSM1583101 DNMT3A c.2086_2086delC p.Q696fs*9 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1581236 KMT2C c.10199G>A p.R3400H Substitution - Missense Prostate COSM1581655 SETD2 c.3488A>G p.Y1163C Substitution - Missense Bone COSM1625944 HDAC6 c.3436C>T p.L1146F Substitution - Missense Liver COSM1680033 BPTF c.6368C>T p.S2123L Substitution - Missense Breast COSM1671778 CHD1 c.3791G>A p.G1264D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1643030 PHF1 c.17G>A p.R6Q Substitution - Missense Stomach COSM1697481 PHF3 c.4490C>T p.P1497L Substitution - Missense Skin COSM1701990 EHMT1 c.20C>T p.S7L Substitution - Missense Cervix COSM1747775 GATAD2B c.1216G>A p.G406S Substitution - Missense Urinary_tract COSM2948452 KAT2B c.1366G>A p.E456K Substitution - Missense Biliary_tract COSM3144778 L3MBTL4 c.711C>T p.C237C Substitution - coding silent Prostate COSM3357071 SMARCA4 c.2941A>G p.K981E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3382819 ZMYND11 c.265G>C p.D89H Substitution - Missense Pancreas COSM3378513 MBD1 c.1237C>T p.R413* Substitution - Nonsense Pancreas COSM3394974 TRRAP c.9903A>C p.E3301D Substitution - Missense Pancreas COSM3378977 ASXL1 c.3911T>A p.L1304H Substitution - Missense Pancreas COSM3395827 KIAA2026_ENST00000399933 c.1632T>G p.D544E Substitution - Missense Pancreas COSM3505553 CHD2 c.4738C>T p.R1580C Substitution - Missense Skin COSM3486472 SMYD3 c.909C>T p.F303F Substitution - coding silent Skin COSM3464377 CHD4 c.2879C>T p.A960V Substitution - Missense Skin COSM3474967 ASH1L c.4232C>T p.P1411L Substitution - Missense Skin COSM3578887 SP140_ENST00000392045 c.511G>A p.E171K Substitution - Missense Skin COSM3555546 BRD1 c.964C>T p.R322W Substitution - Missense Cervix COSM3519941 AKAP1 c.1779C>T p.F593F Substitution - coding silent Skin COSM3671247 ZMYM5 c.95G>T p.G32V Substitution - Missense Prostate COSM3687694 TRIM66 c.2131T>C p.F711L Substitution - Missense Large_intestine COSM3666561 HNF1A c.956-1delG p.? Unknown Liver COSM3722551 KMT2D c.6669G>T p.G2223G Substitution - coding silent Soft_tissue COSM3727110 ARID1A c.2317C>T p.P773S Substitution - Missense Skin COSM3763733 BRD3 c.1284C>T p.P428P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3934122 ASH1L c.6722C>T p.A2241V Substitution - Missense Oesophagus COSM3825231 SETD7 c.1080C>T p.F360F Substitution - coding silent Breast COSM3963971 BRWD1 c.3672G>C p.A1224A Substitution - coding silent Lung COSM4031007 ARID1A c.3010A>G p.T1004A Substitution - Missense Stomach COSM4040237 EP400 c.2360C>A p.A787D Substitution - Missense Stomach COSM4101609 BRWD1 c.2122C>T p.R708C Substitution - Missense Stomach COSM4093189 NCOA1 c.66G>A p.S22S Substitution - coding silent Stomach COSM4095761 INO80B c.998C>A p.P333H Substitution - Missense Stomach COSM4129155 SETD6 c.477C>G p.N159K Substitution - Missense Thyroid COSM4170053 TET2 c.4954C>T p.Q1652* Substitution - Nonsense Pancreas COSM4387473 EP300 c.4505C>T p.P1502L Substitution - Missense Oesophagus COSM4385582 TET2 c.2276_2277insT p.P761fs*8 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4396964 BRPF1 c.3661T>C p.*1221R Nonstop extension Skin COSM4408244 KIAA1045 c.198G>A p.S66S Substitution - coding silent Pancreas COSM4599760 NCOA1 c.3364C>T p.R1122* Substitution - Nonsense Upper_aerodigestive_tract COSM4494395 PRDM15 c.4327C>T p.H1443Y Substitution - Missense Skin COSM4593385 ARID2 c.4663G>T p.A1555S Substitution - Missense Upper_aerodigestive_tract COSM4588685 EHMT1 c.2157G>A p.E719E Substitution - coding silent Bone COSM4495642 EYA1 c.458C>G p.S153* Substitution - Nonsense Skin COSM4583992 ZBTB38 c.2060G>A p.R687Q Substitution - Missense Bone COSM4591270 KMT2C c.2512G>A p.G838S Substitution - Missense Upper_aerodigestive_tract COSM4492295 KMT2A c.3958C>T p.P1320S Substitution - Missense Skin COSM4481587 ATXN7 c.2522C>T p.P841L Substitution - Missense Skin COSM4462335 TDRD6 c.1241C>T p.S414F Substitution - Missense Skin COSM4411402 BRPF3 c.2653A>G p.K885E Substitution - Missense Kidney COSM4666093 BRD3 c.698C>T p.T233M Substitution - Missense Soft_tissue COSM4725154 SETD2 c.4362C>T p.D1454D Substitution - coding silent Large_intestine COSM4649020 PHIP c.2430A>G p.E810E Substitution - coding silent Large_intestine COSM4842721 ASH1L c.1009G>C p.D337H Substitution - Missense Cervix COSM5188152 MPHOSPH8 c.282T>A p.I94I Substitution - coding silent Large_intestine COSM5037684 ZMYM5 c.711T>C p.T237T Substitution - coding silent Skin COSM5363864 NCOR1 c.3001_3004delAACA p.N1001fs*13 Deletion - Frameshift Large_intestine COSM5490684 KMT2A c.9475C>T p.H3159Y Substitution - Missense Biliary_tract COSM5480790 SFMBT2 c.1653A>G p.L551L Substitution - coding silent Large_intestine COSM5474877 SHPRH c.3541C>T p.Q1181* Substitution - Nonsense Large_intestine COSM5431212 MBD6 c.949C>T p.P317S Substitution - Missense Oesophagus COSM5454621 KDM6B c.4737+9G>A p.? Unknown Large_intestine COSM5455032 CBX7 c.448C>T p.R150W Substitution - Missense Large_intestine COSM5722492 CDYL2 c.62G>A p.G21E Substitution - Missense Skin COSM5607681 ZMYM2 c.4078C>T p.L1360L Substitution - coding silent Skin COSM5587723 EP300 c.183T>C p.I61I Substitution - coding silent Skin COSM5579709 TET2 c.315G>A p.G105G Substitution - coding silent Skin COSM5683769 PRMT10 c.516G>T p.K172N Substitution - Missense Soft_tissue COSM5680047 AKAP1 c.334C>A p.P112T Substitution - Missense Soft_tissue COSM5697070 SP140 c.227A>T p.Q76L Substitution - Missense Soft_tissue COSM5669957 CDYL2 c.207delG p.K70fs*77 Deletion - Frameshift Soft_tissue COSM5657553 TAF1L c.4189C>T p.R1397C Substitution - Missense Soft_tissue COSM5691118 PCGF6 c.84delT p.V29fs*73 Deletion - Frameshift Soft_tissue COSM5714866 KMT2D c.3933C>G p.Y1311* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5551604 BAHCC1 c.4309G>A p.D1437N Substitution - Missense Prostate COSM5553910 KAT5 c.309C>T p.F103F Substitution - coding silent Prostate COSM5572890 PBRM1 c.2980T>C p.Y994H Substitution - Missense Prostate COSM5558751 BAZ2B c.5200C>T p.L1734L Substitution - coding silent Prostate COSM5781579 ASH1L c.1332C>T p.I444I Substitution - coding silent Breast COSM5784131 SETD2 c.448G>C p.D150H Substitution - Missense Breast COSM5786940 SCMH1 c.303G>A p.E101E Substitution - coding silent Breast COSM5835268 PHIP c.2377delC p.Q793fs*20 Deletion - Frameshift Breast COSM5807717 ARID1A c.6125G>A p.S2042N Substitution - Missense Liver COSM5945631 SETD2 c.392C>G p.P131R Substitution - Missense Central_nervous_system COSM5991573 IDH2 c.409G>A p.G137R Substitution - Missense Skin COSM5984820 EHMT1 c.976G>A p.E326K Substitution - Missense Upper_aerodigestive_tract COSM5976188 ING3 c.858A>G p.T286T Substitution - coding silent Upper_aerodigestive_tract COSM5347199 ARID1A c.?_?ins? p.A1517fs*? Insertion - Frameshift Endometrium COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM4972327 ASXL1 c.? p.R786* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM52954 DNMT3A c.? p.R882P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43413 TET2 c.?_?ins? p.?fs Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5611962 SMARCC2 c.2668C>G p.L890V Substitution - Missense Adrenal_gland COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM249703 GLYR1 c.732+1G>A p.? Unknown Kidney COSM166352 MSH6 c.? p.P1087fs*5 Unknown Biliary_tract COSM3738469 TET2 c.? p.G1869E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1233532 ZMYM4 c.899T>C p.V300A Substitution - Missense Large_intestine COSM5886108 TDRD10 c.504-5C>T p.? Unknown Skin COSM1081851 PHIP c.3861G>T p.E1287D Substitution - Missense Endometrium COSM1738038 ASXL1 c.? p.K160R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM423092 PBRM1 c.2238_2253del16 p.K747fs*23 Deletion - Frameshift Kidney COSM5062700 TRRAP c.1762A>T p.I588F Substitution - Missense Stomach COSM473728 AP001011.3_ENST00000320876 c.5671T>C p.F1891L Substitution - Missense Kidney COSM162502 KMT2C c.7442+1G>A p.? Unknown Breast COSM3871641 ARID2 c.1972C>T p.Q658* Substitution - Nonsense Skin COSM5511017 SMARCA4 c.1561C>T p.R521W Substitution - Missense Lung COSM5363296 CHD9 c.6225T>G p.S2075S Substitution - coding silent Large_intestine COSM4014448 ERCC6 c.2203C>T p.R735* Substitution - Nonsense Stomach COSM41644 TET2 c.1648C>T p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1351609 KMT2A c.2312delC p.P773fs*8 Deletion - Frameshift Large_intestine COSM41644 TET2 c.1648C>T p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5770198 DOT1L c.1410C>G p.H470Q Substitution - Missense Breast COSM2149141 ATRX c.6003delG p.W2001fs*14 Deletion - Frameshift Central_nervous_system COSM1329942 KMT2C c.3613A>T p.K1205* Substitution - Nonsense Ovary COSM4111150 ATRX c.2729A>C p.K910T Substitution - Missense Stomach COSM712048 UHRF1 c.379G>T p.A127S Substitution - Missense Lung COSM3443985 KMT2A c.6985C>T p.P2329S Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM703022 CREBBP c.1148C>G p.P383R Substitution - Missense Lung COSM3817842 SETD1A c.1951C>G p.P651A Substitution - Missense Breast COSM4560358 BRD3 c.840G>A p.E280E Substitution - coding silent Skin COSM5620310 ARID2 c.3033G>T p.R1011S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3720868 ARID2 c.1419C>T p.S473S Substitution - coding silent Upper_aerodigestive_tract COSM5720735 PRDM1 c.1940G>T p.R647L Substitution - Missense Skin COSM3650720 EYA1 c.946C>T p.P316S Substitution - Missense Skin COSM255163 MEN1 c.? p.? Unknown Parathyroid COSM87077 TET2 c.941_942insG p.C314fs*17 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3669090 ZBTB38 c.1338C>T p.D446D Substitution - coding silent Liver COSM1179107 KMT2C c.851G>A p.R284Q Substitution - Missense Upper_aerodigestive_tract COSM4537835 EZH1 c.246G>A p.K82K Substitution - coding silent Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM443836 CHD6 c.3240G>A p.T1080T Substitution - coding silent Breast COSM4928951 TAF3 c.1388C>T p.S463L Substitution - Missense Liver COSM5502944 PRDM9 c.820G>T p.G274C Substitution - Missense Biliary_tract COSM5700169 AKAP1 c.385A>G p.T129A Substitution - Missense Soft_tissue COSM5552786 SMYD3 c.388G>T p.E130* Substitution - Nonsense Prostate COSM1007230 MBD5 c.2294A>G p.N765S Substitution - Missense Endometrium COSM481939 PHF15 c.1580G>C p.G527A Substitution - Missense Kidney COSM5889707 HDAC4 c.1349C>T p.S450F Substitution - Missense Skin COSM1677556 RNF17 c.1141G>T p.D381Y Substitution - Missense Large_intestine COSM1067695 NIPBL c.5366G>A p.R1789Q Substitution - Missense Endometrium COSM915025 TDRD1 c.2292G>T p.E764D Substitution - Missense Endometrium COSM4385771 PHF6 c.69_70insA p.R24fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5014717 ZCWPW1 c.1255C>T p.R419W Substitution - Missense Pancreas COSM1132559 BRD3 c.2029G>A p.G677R Substitution - Missense Stomach COSM5510710 YY1 c.144C>G p.D48E Substitution - Missense Biliary_tract COSM4824172 BRWD1 c.2642G>C p.R881T Substitution - Missense Cervix COSM5699767 CREBBP c.2004delA p.K668fs*27 Deletion - Frameshift Soft_tissue COSM5607230 ZMYM4 c.2597C>T p.S866F Substitution - Missense Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM954436 CHD8 c.3871A>G p.N1291D Substitution - Missense Endometrium COSM130409 TET2 c.2116C>T p.Q706* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM43417 TET2 c.2746C>T p.Q916* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4822150 RAD54L c.46G>A p.E16K Substitution - Missense Cervix COSM2230161 PRDM2 c.4551A>G p.T1517T Substitution - coding silent Large_intestine COSM4646566 KDM6B c.1688G>A p.S563N Substitution - Missense Large_intestine COSM1019162 NCOA1 c.2736A>G p.Q912Q Substitution - coding silent Endometrium COSM5945930 ARID1A c.1840T>G p.S614A Substitution - Missense Meninges COSM1028112 PCNA c.765C>T p.I255I Substitution - coding silent Endometrium COSM53025 EZH2 c.890A>G p.H297R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3294899 ZMYND8 c.1873G>T p.D625Y Substitution - Missense Large_intestine COSM5764406 ASXL1 c.157C>G p.L53V Substitution - Missense Large_intestine COSM3817827 SRCAP c.6268G>T p.D2090Y Substitution - Missense Breast COSM4170753 CREBBP c.4501_4503delGAG p.E1501delE Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM4767389 IDH1 c.? p.K3fs*? Insertion - Frameshift Large_intestine COSM1121571 KDM6A c.494G>A p.R165Q Substitution - Missense Endometrium COSM3932986 LMNB2 c.671T>G p.V224G Substitution - Missense Urinary_tract COSM3806483 TDRD1 c.1530T>G p.F510L Substitution - Missense Breast COSM3814009 TDRD3 c.1938A>C p.P646P Substitution - coding silent Breast COSM4152507 PBRM1 c.712C>T p.Q238* Substitution - Nonsense Kidney COSM3406619 BRWD3 c.4252C>T p.R1418* Substitution - Nonsense Central_nervous_system COSM4411268 PBRM1 c.3920delA p.K1307fs*6 Deletion - Frameshift Kidney COSM4990883 CREBBP c.4271C>T p.P1424L Substitution - Missense Skin COSM3069716 DHX30 c.1602C>A p.F534L Substitution - Missense Large_intestine COSM4975485 SCMH1 c.1764G>A p.Q588Q Substitution - coding silent Oesophagus COSM1642928 ARID1B c.3169C>T p.R1057* Substitution - Nonsense Skin COSM2270168 INOC1 c.3424C>T p.H1142Y Substitution - Missense Large_intestine COSM96930 TET2 c.865_865delG p.A289fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3160243 PHF3 c.1078C>A p.L360I Substitution - Missense Large_intestine COSM5429813 ATF7IP c.787G>A p.E263K Substitution - Missense Oesophagus COSM4170132 TET2 c.2188_2189delAC p.Q731fs*22 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4550740 MBD5 c.507G>T p.K169N Substitution - Missense Skin COSM6002107 CREBBP c.722A>G p.E241G Substitution - Missense Prostate COSM2747810 DOT1L c.4972delC p.T1660fs*>79 Deletion - Frameshift Prostate COSM144177 EZH2 c.797G>A p.G266E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5610829 TET2 c.2207C>T p.S736L Substitution - Missense Skin COSM144608 KMT2D c.4897C>T p.R1633* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM109614 AIRE c.1105G>A p.G369R Substitution - Missense Skin COSM1109469 KIAA2026_ENST00000399933 c.2381C>T p.S794L Substitution - Missense Endometrium COSM4799236 ARID1B c.8C>T p.T3M Substitution - Missense Liver COSM909531 SCMH1 c.1656C>T p.I552I Substitution - coding silent Endometrium COSM4410462 BAHCC1 c.2274G>A p.T758T Substitution - coding silent Oesophagus COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Bone COSM254635 CREBBP c.1258A>T p.K420* Substitution - Nonsense Urinary_tract COSM4437159 MYST3 c.110C>A p.S37Y Substitution - Missense Cervix COSM4096132 KDM3A c.2290C>T p.P764S Substitution - Missense Stomach COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM2874663 NCOA2 c.450C>T p.N150N Substitution - coding silent Large_intestine COSM5370103 TDRD1 c.807G>A p.T269T Substitution - coding silent Skin COSM289777 SMEK2 c.522_523insA p.L175fs*15 Insertion - Frameshift Large_intestine COSM5606302 ACTB c.826G>A p.E276K Substitution - Missense Skin COSM5396687 NCOA1 c.977C>T p.P326L Substitution - Missense Skin COSM24925 HNF1A c.747_764del18 p.Q250_G255delQAQGLG Deletion - In frame Liver COSM3754994 PRMT7 c.1638C>T p.D546D Substitution - coding silent Large_intestine COSM1161251 SMARCA4 c.2917C>T p.R973W Substitution - Missense Cervix COSM2161491 SFMBT2 c.375C>T p.I125I Substitution - coding silent Skin COSM4765106 ARID1A c.4761_4762insC p.A1589fs*14 Insertion - Frameshift Stomach COSM971417 CHD9 c.2507G>A p.R836H Substitution - Missense Endometrium COSM1714016 PRDM15 c.4186C>T p.P1396S Substitution - Missense Skin COSM4415892 SFMBT1 c.2543A>G p.K848R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3662909 SND1 c.1536A>G p.Q512Q Substitution - coding silent Liver COSM137754 TAF1 c.1501A>G p.T501A Substitution - Missense Skin COSM1088151 HDAC9 c.933C>T p.R311R Substitution - coding silent Endometrium COSM4717457 PRDM13 c.493G>A p.G165S Substitution - Missense Large_intestine COSM5993756 IDH1 c.317C>T p.T106M Substitution - Missense Prostate COSM4846907 MBD5 c.2845+9G>C p.? Unknown Cervix COSM2095492 TDRD5 c.584C>A p.S195Y Substitution - Missense Large_intestine COSM4099087 ZMYND8 c.853A>C p.K285Q Substitution - Missense Stomach COSM1721289 KMT2C c.14344-3delT p.? Unknown Biliary_tract COSM3870351 EED c.482C>T p.P161L Substitution - Missense Skin COSM3650675 PRDM14 c.612C>T p.F204F Substitution - coding silent Skin COSM1179445 CHD2 c.4592+1G>T p.? Unknown Prostate COSM4770345 CREBBP c.7329G>T p.*2443Y Nonstop extension Adrenal_gland COSM4129632 RAI1 c.1770T>G p.G590G Substitution - coding silent Thyroid COSM3153139 EP300 c.3602G>A p.C1201Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4072479 CXXC1 c.322G>A p.G108R Substitution - Missense Stomach COSM4849938 TAF1L c.478C>T p.P160S Substitution - Missense Cervix COSM5942031 CDYL c.448C>G p.P150A Substitution - Missense Skin COSM4650031 TET2 c.2911G>T p.E971* Substitution - Nonsense Large_intestine COSM3854562 PRDM9 c.365C>A p.A122E Substitution - Missense Stomach COSM211671 TET2 c.2582_2582delA p.N861fs*12 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5607866 ARID1B c.1868delC p.A623fs*3 Deletion - Frameshift Skin COSM87161 TET2 c.4138C>T p.H1380Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53043 IDH1 c.297A>G p.I99M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM21478 HNF1A c.618G>T p.W206C Substitution - Missense Liver COSM758310 BRWD3 c.4462C>T p.H1488Y Substitution - Missense Skin COSM5764601 PRDM9 c.1078G>T p.E360* Substitution - Nonsense Large_intestine COSM4574957 HCFC2 c.590T>C p.I197T Substitution - Missense Bone COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5946084 KDM6A c.?_?del? p.? Unknown Urinary_tract COSM1622596 KMT2C c.10726A>G p.I3576V Substitution - Missense Liver COSM3509553 CREBBP c.5333C>T p.S1778L Substitution - Missense Skin COSM3847994 WDR5 c.546T>C p.D182D Substitution - coding silent Breast COSM5744688 PYGO2 c.314G>A p.R105H Substitution - Missense Pancreas COSM1678410 TP53BP1 c.5573G>T p.R1858I Substitution - Missense Large_intestine COSM5757616 BAP1 c.? p.I586fs*? Frameshift Kidney COSM4987716 NCOA3 c.1758G>C p.Q586H Substitution - Missense Soft_tissue COSM30583 SMARCA4 c.?_?del? p.? Unknown Prostate COSM5788926 BAZ2A_ENST00000379441 c.2201C>T p.A734V Substitution - Missense Breast COSM5814924 ARID1A c.6598G>T p.E2200* Substitution - Nonsense Liver COSM3424066 SMARCB1 c.988G>A p.E330K Substitution - Missense Large_intestine COSM277801 TRIM24 c.376C>T p.R126C Substitution - Missense Large_intestine COSM4846080 TAF1L c.4489G>A p.D1497N Substitution - Missense Cervix COSM460902 ZBTB38 c.2932G>C p.E978Q Substitution - Missense Cervix COSM5676207 FXR1 c.1523G>T p.R508I Substitution - Missense Soft_tissue COSM272705 FXR1 c.364delA p.N124fs*14 Deletion - Frameshift Skin COSM1161669 KMT2C c.6283A>G p.S2095G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1341894 PRDM16 c.3369C>T p.D1123D Substitution - coding silent Liver COSM1039210 ZBTB38 c.3476G>A p.G1159D Substitution - Missense Endometrium COSM4400761 GLYATL1 c.988C>T p.L330L Substitution - coding silent Skin COSM4129239 PRMT7 c.879G>A p.K293K Substitution - coding silent Thyroid COSM1255491 KDM3B c.4435C>T p.Q1479* Substitution - Nonsense Oesophagus COSM4594938 CBX4 c.108G>T p.S36S Substitution - coding silent Upper_aerodigestive_tract COSM5772401 MBD5 c.3784G>C p.E1262Q Substitution - Missense Breast COSM289025 NIPBL c.6205A>G p.I2069V Substitution - Missense Large_intestine COSM2270982 ASXL1 c.1249C>T p.R417* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3364776 SMEK2 c.1510+2T>A p.? Unknown Kidney COSM393667 GABRG1 c.1226G>A p.G409D Substitution - Missense Lung COSM3463513 BAZ2A_ENST00000379441 c.5676C>T p.S1892S Substitution - coding silent Skin COSM4753392 CHD6 c.4250A>G p.E1417G Substitution - Missense Stomach COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1314182 EYA1 c.310C>T p.Q104* Substitution - Nonsense Urinary_tract COSM252975 CHD1 c.2181-4delT p.? Unknown Biliary_tract COSM3447395 PRDM11 c.1048G>A p.A350T Substitution - Missense Skin COSM3743050 PRMT1 c.582C>T p.N194N Substitution - coding silent Liver COSM443340 SMYD1 c.337C>A p.R113R Substitution - coding silent Thyroid COSM2866901 TRRAP c.11148C>T p.S3716S Substitution - coding silent Skin COSM5453324 CHD9 c.1326G>A p.S442S Substitution - coding silent Large_intestine COSM908336 PRDM16 c.1069C>T p.R357C Substitution - Missense Large_intestine COSM1243671 TDRD7 c.2647G>T p.D883Y Substitution - Missense Oesophagus COSM2105392 KMT2A c.2684A>G p.K895R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM710745 DOT1L c.2659A>T p.S887C Substitution - Missense Lung COSM1179669 KMT2C c.943G>A p.G315S Substitution - Missense Soft_tissue COSM4849128 NSD1 c.2532G>A p.E844E Substitution - coding silent Cervix COSM3841473 DIDO1 c.784G>A p.E262K Substitution - Missense Breast COSM1107170 EHMT1 c.745G>T p.V249F Substitution - Missense Pancreas COSM438455 DNMT1 c.4036G>C p.D1346H Substitution - Missense Breast COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM52895 PBRM1 c.3208_3210delTTT p.F1070del Deletion - In frame Kidney COSM96486 TET2 c.1557_1557delT p.F519fs*14 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5945396 ASXL1 c.199G>T p.G67* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4444465 CHD8 c.3790G>A p.E1264K Substitution - Missense Soft_tissue COSM5733050 DNMT3L c.448C>T p.R150* Substitution - Nonsense Pancreas COSM267948 KIAA1045 c.748C>T p.R250C Substitution - Missense Large_intestine COSM3567474 EPC2 c.1488T>G p.N496K Substitution - Missense Skin COSM144496 IDH2 c.? p.R172S Substitution - Missense Bone COSM4537833 CBX6 c.246G>A p.K82K Substitution - coding silent Skin COSM1333947 VPS72 c.150G>A p.Q50Q Substitution - coding silent Large_intestine COSM87150 TET2 c.4082G>A p.G1361D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5198875 KDM5A c.2274_2275insA p.D759fs*4 Insertion - Frameshift Breast COSM914370 ASXL1 c.? p.Q1438* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3706559 MGA c.4564A>T p.S1522C Substitution - Missense Liver COSM4589607 EP400 c.8181_8182insCAGCAGCAG p.Q2748_T2749insQQQ Insertion - In frame Thyroid COSM1122188 HDAC6 c.1298C>T p.P433L Substitution - Missense Endometrium COSM5901091 SMYD2 c.304C>T p.P102S Substitution - Missense Skin COSM1475437 PRDM11 c.195C>T p.L65L Substitution - coding silent Breast COSM183186 SMARCB1 c.237C>T p.H79H Substitution - coding silent Stomach COSM27531 MSH6 c.? p.L109V Substitution - Missense Central_nervous_system COSM1678376 INOC1 c.1403C>A p.S468* Substitution - Nonsense Large_intestine COSM1718171 BRPF1 c.1971C>T p.V657V Substitution - coding silent Skin COSM1085182 SND1 c.981A>C p.R327S Substitution - Missense Endometrium COSM41894 TET2 c.? p.P1962L Substitution - Missense Skin COSM5683520 RSF1 c.3617G>T p.R1206L Substitution - Missense Soft_tissue COSM1043287 KAT2B c.636G>T p.K212N Substitution - Missense Large_intestine COSM5575226 MGA c.8011G>C p.D2671H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2251512 SMEK1 c.162G>A p.S54S Substitution - coding silent Stomach COSM4739146 UHRF2 c.1307C>T p.T436M Substitution - Missense Large_intestine COSM4328563 TET2 c.5182G>T p.E1728* Substitution - Nonsense Upper_aerodigestive_tract COSM3973885 ATRX c.6456T>G p.Y2152* Substitution - Nonsense Central_nervous_system COSM87002 DNMT3A c.1627G>T p.G543C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5673520 MGA c.8724T>C p.A2908A Substitution - coding silent Soft_tissue COSM1587014 ZMYM2 c.3758C>T p.T1253M Substitution - Missense Endometrium COSM1560993 PCGF6 c.83_84insGCCTCC p.P28_V29insPP Insertion - In frame Large_intestine COSM1307800 BRWD1 c.1654G>A p.E552K Substitution - Missense Urinary_tract COSM3677672 PRDM16 c.2693T>G p.M898R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4031030 ARID1A c.6816A>G p.S2272S Substitution - coding silent Stomach COSM939978 KMT2D c.14703G>A p.R4901R Substitution - coding silent Endometrium COSM111693 KAT6B c.3289_3291delGAA p.E1097delE Deletion - In frame Ovary COSM447111 BRPF1 c.1796A>C p.E599A Substitution - Missense Breast COSM5617125 HDAC4 c.1720C>A p.R574R Substitution - coding silent Lung COSM4153265 EHMT2 c.545G>A p.R182Q Substitution - Missense Ovary COSM4614376 KIAA2026_ENST00000399933 c.2186_2187delAA p.K729fs*15 Deletion - Frameshift Large_intestine COSM109256 INOC1 c.2998C>T p.R1000C Substitution - Missense Skin COSM3420984 CREBBP c.212C>T p.S71L Substitution - Missense Large_intestine COSM5015874 BRDT c.935delT p.V313fs*31 Deletion - Frameshift Kidney COSM293771 NSD1 c.6999C>A p.P2333P Substitution - coding silent Large_intestine COSM1665865 ZBTB38 c.3403delA p.T1136fs*23 Deletion - Frameshift Kidney COSM1325883 MBD5 c.3239C>T p.P1080L Substitution - Missense Ovary COSM677843 TDRD5 c.1467G>T p.R489R Substitution - coding silent Lung COSM4104158 CBX6 c.444G>A p.P148P Substitution - coding silent Stomach COSM1752416 SP140_ENST00000392045 c.1600G>A p.E534K Substitution - Missense Skin COSM1334660 ASH1L c.3665delA p.K1222fs*11 Deletion - Frameshift Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4437283 KMT2D c.3404G>A p.C1135Y Substitution - Missense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3596177 PBRM1 c.3258C>T p.V1086V Substitution - coding silent Skin COSM753796 SMARCA2 c.2251A>G p.M751V Substitution - Missense Lung COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1238328 BTAF1 c.3779T>C p.V1260A Substitution - Missense Oesophagus COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5497608 ATAD2B_ENST00000238789 c.617G>A p.R206Q Substitution - Missense Biliary_tract COSM961363 INOC1 c.1540T>G p.F514V Substitution - Missense Endometrium COSM21745 SMARCC2 c.1840G>A p.E614K Substitution - Missense Skin COSM289244 TDRKH c.442C>T p.R148C Substitution - Missense Skin COSM22019 NCOA2 c.3094C>G p.Q1032E Substitution - Missense Lung COSM4432535 ATXN7 c.2535C>T p.S845S Substitution - coding silent Oesophagus COSM1637094 RAD54L c.1812G>A p.M604I Substitution - Missense Bone COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM135967 SFMBT2 c.655C>T p.R219C Substitution - Missense Skin COSM3185980 MSH6 c.10C>T p.Q4* Substitution - Nonsense Skin COSM5980399 SETD1B c.1834C>T p.R612C Substitution - Missense Upper_aerodigestive_tract COSM316132 TRIM24 c.2560G>C p.V854L Substitution - Missense Soft_tissue COSM1416628 TCF20 c.768T>C p.S256S Substitution - coding silent Large_intestine COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Biliary_tract COSM5697822 SRCAP c.5289C>T p.A1763A Substitution - coding silent Soft_tissue COSM446877 ACTR8 c.1047T>G p.T349T Substitution - coding silent Breast COSM1105711 SET c.512G>T p.S171I Substitution - Missense Endometrium COSM4603312 EP400 c.8184_8185insCAG p.Q2748_T2749insQ Insertion - In frame Upper_aerodigestive_tract COSM1137989 TAF1L c.4734_4735GC>CA p.K1578_H1579>NN Complex - compound substitution Kidney COSM1348876 SFMBT2 c.1807A>T p.K603* Substitution - Nonsense Large_intestine COSM1564362 KDM4B c.489C>T p.R163R Substitution - coding silent Large_intestine COSM319395 CDYL c.179C>G p.A60G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM921720 HELLS c.2185G>A p.D729N Substitution - Missense Endometrium COSM4006482 BRPF3 c.2884T>C p.S962P Substitution - Missense Urinary_tract COSM4445216 CHD7 c.2195delC p.P732fs*23 Deletion - Frameshift Large_intestine COSM391248 CHD2 c.3724_3725insA p.Y1246fs*13 Insertion - Frameshift Large_intestine COSM225371 SETD1A c.3575C>T p.P1192L Substitution - Missense Skin COSM4464593 CTCF c.1341C>T p.A447A Substitution - coding silent Skin COSM4768836 TIF1 c.3003C>T p.P1001P Substitution - coding silent Biliary_tract COSM3937748 SETBP1 c.3577G>A p.A1193T Substitution - Missense Oesophagus COSM1319204 PRDM9 c.2233G>A p.E745K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4450805 SFMBT2 c.871-1G>A p.? Unknown Skin COSM5573870 CHD1 c.630_631insA p.R211fs*4 Insertion - Frameshift Prostate COSM224062 DIDO1 c.3119C>T p.S1040F Substitution - Missense Skin COSM4911006 GLYR1 c.1559C>A p.P520Q Substitution - Missense Liver COSM1363059 SMARCC2 c.1072C>T p.P358S Substitution - Missense Large_intestine COSM1441830 ARID1B c.5619C>T p.D1873D Substitution - coding silent Large_intestine COSM4505358 SCMH1 c.519C>T p.F173F Substitution - coding silent Skin COSM4843918 EYA1 c.1308C>T p.F436F Substitution - coding silent Cervix COSM1725443 SETD8 c.159G>T p.K53N Substitution - Missense Liver COSM12931 TAF1L c.2382A>C p.E794D Substitution - Missense Lung COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM29148 KDM6A c.2312G>A p.G771D Substitution - Missense Kidney COSM37030 EZH2 c.1936T>C p.Y646H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM37030 EZH2 c.1936T>C p.Y646H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Stomach COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1085 SMARCB1 c.629-1G>A p.? Unknown Central_nervous_system COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM53029 EZH2 c.1175_1176delAA p.E392fs*7 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM97173 PRDM1 c.2036C>T p.A679V Substitution - Missense Stomach COSM196956 BRWD3 c.4988G>T p.R1663I Substitution - Missense Large_intestine COSM195682 EYA1 c.743C>T p.T248M Substitution - Missense Stomach COSM219710 RSF1 c.3925_3927delGAG p.E1309delE Deletion - In frame Breast COSM223348 PHF2 c.1330-1G>A p.? Unknown Skin COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Endometrium COSM254573 BTAF1 c.4850C>G p.S1617* Substitution - Nonsense Urinary_tract COSM270201 AP001011.3_ENST00000320876 c.3736C>T p.R1246* Substitution - Nonsense Large_intestine COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Upper_aerodigestive_tract COSM340007 TRRAP c.5061-1G>C p.? Unknown Lung COSM366974 ASH1L c.5709T>G p.S1903R Substitution - Missense Lung COSM473370 ZBTB4 c.339T>C p.P113P Substitution - coding silent Kidney COSM987385 AP001011.3_ENST00000320876 c.1162A>C p.K388Q Substitution - Missense Endometrium COSM988858 CXXC1 c.1742G>A p.R581H Substitution - Missense Endometrium COSM954578 PRMT5 c.298C>T p.R100C Substitution - Missense Skin COSM939934 KDM5A c.339A>C p.K113N Substitution - Missense Endometrium COSM1028935 C20orf20 c.319C>A p.L107I Substitution - Missense Endometrium COSM1692704 SETD2 c.3976C>T p.Q1326* Substitution - Nonsense Skin COSM1692721 SMARCC1 c.2168C>T p.S723F Substitution - Missense Skin COSM723886 PHF20 c.121G>C p.G41R Substitution - Missense Lung COSM935974 HNF1A c.862delG p.P291fs*51 Deletion - Frameshift Large_intestine COSM933544 KDM4D c.304C>T p.R102C Substitution - Missense Endometrium COSM1076450 HDGFL1 c.126C>A p.F42L Substitution - Missense Endometrium COSM1124867 TAF1 c.472C>T p.P158S Substitution - Missense Endometrium COSM1125440 ATRX c.4387G>A p.E1463K Substitution - Missense Endometrium COSM1108247 TAF1L c.1255G>A p.E419K Substitution - Missense Skin COSM1108254 TAF1L c.226C>A p.L76I Substitution - Missense Endometrium COSM1132079 CHD1 c.2699G>A p.R900Q Substitution - Missense Large_intestine COSM1137064 PBRM1 c.4387C>T p.Q1463* Substitution - Nonsense Kidney COSM1091565 BAZ1B c.1718G>T p.R573I Substitution - Missense Endometrium COSM1233254 ZCWPW2 c.922A>G p.S308G Substitution - Missense Large_intestine COSM1163731 ADNP c.3047delA p.K1016fs*11 Deletion - Frameshift Large_intestine COSM1201023 CHD9 c.3214G>A p.A1072T Substitution - Missense Large_intestine COSM1179848 KDM6A c.3111G>A p.Q1037Q Substitution - coding silent Soft_tissue COSM1190278 ZMYND8 c.1805C>T p.T602M Substitution - Missense Lung COSM1166200 RBBP5 c.1129G>A p.V377I Substitution - Missense Large_intestine COSM1319427 SMC1A c.1757G>A p.R586Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1394303 UHRF1 c.659G>C p.R220P Substitution - Missense Large_intestine COSM1389540 L3MBTL4 c.152C>T p.A51V Substitution - Missense Large_intestine COSM1377032 GTF3C1 c.1907C>T p.T636M Substitution - Missense Large_intestine COSM1443800 PHF1 c.10delC p.R6fs*2 Deletion - Frameshift Large_intestine COSM1450078 STK31 c.1405A>C p.K469Q Substitution - Missense Large_intestine COSM1437260 NIPBL c.1624A>G p.S542G Substitution - Missense Large_intestine COSM1363766 CHD4 c.1429A>G p.N477D Substitution - Missense Large_intestine COSM1344943 MTF2 c.1181delA p.G397fs*6 Deletion - Frameshift Large_intestine COSM1566057 PRDM15 c.4225G>A p.V1409M Substitution - Missense Large_intestine COSM1609459 SETD6 c.901+2T>C p.? Unknown Liver COSM1614612 ATAD2B_ENST00000238789 c.68C>T p.P23L Substitution - Missense Liver COSM1672145 NSD1 c.3363A>C p.K1121N Substitution - Missense Large_intestine COSM1674944 WDR5 c.778T>C p.Y260H Substitution - Missense Large_intestine COSM1666695 BAP1 c.1729+1G>T p.? Unknown Eye COSM1665532 KDM5C c.2412delG p.R805fs*11 Deletion - Frameshift Kidney COSM1936431 BAZ2A c.5771G>A p.R1924H Substitution - Missense Large_intestine COSM1966276 TAF3 c.2098G>T p.E700* Substitution - Nonsense Large_intestine COSM2041353 KDM2A c.1158C>T p.S386S Substitution - coding silent Large_intestine COSM2059749 RNF134 c.459C>T p.T153T Substitution - coding silent Large_intestine COSM2151726 SMEK1 c.1588C>G p.L530V Substitution - Missense Central_nervous_system COSM2208088 GATAD2B c.124C>T p.R42C Substitution - Missense Skin COSM2739005 NCOR1 c.4081A>T p.T1361S Substitution - Missense Large_intestine COSM2813480 SMARCA4 c.359_360insC p.S122fs*7 Insertion - Frameshift Large_intestine COSM3080144 ZCWPW1 c.915G>A p.G305G Substitution - coding silent Large_intestine COSM3076000 BRPF3 c.3254G>A p.R1085Q Substitution - Missense Oesophagus COSM3291622 CHD6 c.8079C>T p.P2693P Substitution - coding silent Large_intestine COSM3360246 TTF2 c.3302G>A p.R1101Q Substitution - Missense Kidney COSM3374358 PHF3 c.1102G>A p.D368N Substitution - Missense Thyroid COSM3405946 SMARCA1 c.2172A>C p.Q724H Substitution - Missense Central_nervous_system COSM3487748 EYA3 c.1075G>T p.D359Y Substitution - Missense Skin COSM3439579 JMJD1C c.3702A>G p.T1234T Substitution - coding silent Skin COSM3464392 CHD4 c.2165C>T p.T722I Substitution - Missense Skin COSM3642767 TRRAP c.3731A>G p.D1244G Substitution - Missense Skin COSM3619171 PRDM1 c.400G>A p.E134K Substitution - Missense Skin COSM3630737 ZCWPW1 c.1116C>T p.I372I Substitution - coding silent Skin COSM3589901 MECOM c.431G>A p.S144N Substitution - Missense Skin COSM3528427 SMARCA4 c.2781C>T p.F927F Substitution - coding silent Skin COSM3728128 KDM5D c.290G>C p.G97A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3772782 MPHOSPH8 c.2390G>A p.R797Q Substitution - Missense Pancreas COSM3802115 ASH1L c.3580G>A p.D1194N Substitution - Missense Breast COSM3862838 GATAD2B c.529G>A p.E177K Substitution - Missense Skin COSM3833173 BAZ1B c.3427G>T p.A1143S Substitution - Missense Breast COSM3828656 CHD1 c.2196G>T p.R732S Substitution - Missense Breast COSM3820860 CHD3 c.2122G>A p.D708N Substitution - Missense Breast COSM3926351 GTF3C4 c.1451C>T p.P484L Substitution - Missense Skin COSM3900887 CHD7 c.8869G>A p.D2957N Substitution - Missense Stomach COSM3968993 SETD3 c.1662C>T p.N554N Substitution - coding silent Central_nervous_system COSM4060696 CREBBP c.6214C>T p.R2072W Substitution - Missense Stomach COSM4136402 BRWD3 c.592-3T>C p.? Unknown Ovary COSM4149226 JARID2 c.3234C>A p.L1078L Substitution - coding silent Ovary COSM4162010 KMT2C c.2573G>T p.W858L Substitution - Missense Large_intestine COSM4384066 NSD1 c.2650C>T p.P884S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4596655 SETD1B c.515C>G p.P172R Substitution - Missense Upper_aerodigestive_tract COSM4603241 KDM6B c.761_762insACCACC p.P264_L265insPP Insertion - In frame Upper_aerodigestive_tract COSM4604041 KMT2D c.1087G>C p.E363Q Substitution - Missense Upper_aerodigestive_tract COSM4561129 MUM1 c.870G>A p.S290S Substitution - coding silent Skin COSM4515614 BRWD1 c.120_121GG>AA p.E41K Substitution - Missense Skin COSM4569541 PRDM5 c.1831T>C p.F611L Substitution - Missense Skin COSM4430024 BAZ1A c.3828G>A p.G1276G Substitution - coding silent Oesophagus COSM4488035 BAZ2A_ENST00000379441 c.3265C>T p.Q1089* Substitution - Nonsense Skin COSM4556078 STK31 c.678G>A p.L226L Substitution - coding silent Skin COSM4681117 EP400 c.2893delC p.R966fs*46 Deletion - Frameshift Large_intestine COSM4769599 SMCHD1 c.2656G>C p.D886H Substitution - Missense Biliary_tract COSM4613394 TP53BP1 c.3050delA p.N1017fs*20 Deletion - Frameshift Large_intestine COSM4758873 CHD2 c.4223G>T p.R1408M Substitution - Missense Stomach COSM4793846 PHF15 c.1500G>A p.Q500Q Substitution - coding silent Liver COSM4792334 DMAP1 c.166G>A p.E56K Substitution - Missense Liver COSM4909597 DNMT1 c.4129G>A p.V1377M Substitution - Missense Liver COSM4940342 ZMYM4 c.2005C>T p.L669F Substitution - Missense Liver COSM4852288 TCF20 c.817G>A p.E273K Substitution - Missense Cervix COSM4951085 ARID1A c.1114_1115insG p.Q372fs*28 Insertion - Frameshift Liver COSM5017014 ACTR5 c.635A>G p.N212S Substitution - Missense Kidney COSM5020618 NSD1 c.4522G>T p.A1508S Substitution - Missense Soft_tissue COSM5057721 SMARCB1 c.1115C>T p.T372M Substitution - Missense Stomach COSM5057248 NCOA6 c.4687G>A p.E1563K Substitution - Missense Stomach COSM5042200 ACTB c.613G>A p.E205K Substitution - Missense Liver COSM5392041 ACTR5 c.1476C>T p.F492F Substitution - coding silent Skin COSM5371133 KAT6B c.371C>T p.S124F Substitution - Missense Skin COSM5496493 CLOCK c.1693-7T>C p.? Unknown Biliary_tract COSM5624453 HAT1 c.1228C>G p.R410G Substitution - Missense Oesophagus COSM5649628 ZMYND8 c.661-1G>T p.? Unknown Oesophagus COSM5717375 HDAC9 c.2485G>A p.G829S Substitution - Missense Skin COSM5730818 SETD2 c.3445_3446insT p.T1149fs*14 Insertion - Frameshift Breast COSM5732586 KMT2D c.13008C>G p.Y4336* Substitution - Nonsense Pancreas COSM5600203 PHIP c.5235G>A p.K1745K Substitution - coding silent Skin COSM5691118 PCGF6 c.84delT p.V29fs*73 Deletion - Frameshift Soft_tissue COSM5713892 ZCWPW1 c.1082C>T p.T361M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5752702 KDM6A c.2306C>A p.S769* Substitution - Nonsense Breast COSM5555577 PRDM12 c.137G>A p.G46E Substitution - Missense Prostate COSM5773064 TDG c.971C>G p.A324G Substitution - Missense Breast COSM5823391 SMEK2 c.166A>G p.I56V Substitution - Missense Liver COSM5816432 PHRF1 c.382C>A p.H128N Substitution - Missense Liver COSM5881513 SETDB1 c.166C>A p.Q56K Substitution - Missense Large_intestine COSM5887638 SETDB1 c.847G>A p.E283K Substitution - Missense Upper_aerodigestive_tract COSM5989742 ASXL1 c.2959G>T p.G987* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5985464 PRDM15 c.2490G>A p.M830I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6003499 SMARCA4 c.2621G>A p.R874H Substitution - Missense Prostate COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM52954 DNMT3A c.? p.R882P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43409 TET2 c.? p.?fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1238064 CREBBP c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM27525 MSH6 c.? p.A1151V Substitution - Missense Central_nervous_system COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1639814 ARID1A c.2772delG p.G925fs*16 Deletion - Frameshift Stomach COSM41599 ASXL1 c.? p.C687* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5631266 EP400 c.1043C>T p.P348L Substitution - Missense Oesophagus COSM4672013 CHD4 c.2359A>G p.I787V Substitution - Missense Large_intestine COSM5599297 CHD1 c.978C>T p.S326S Substitution - coding silent Skin COSM325389 GATAD2A c.130G>T p.V44L Substitution - Missense Lung COSM6004024 MBD3 c.63C>A p.P21P Substitution - coding silent Prostate COSM5945237 KDM5A c.2491C>T p.Q831* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM255068 KDM6A c.2112_2121del10 p.T705fs*7 Deletion - Frameshift Urinary_tract COSM3909972 HDAC4 c.2799C>T p.F933F Substitution - coding silent Large_intestine COSM3357465 ATRX c.5711A>T p.E1904V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1560184 KDM1A c.1272C>T p.V424V Substitution - coding silent Large_intestine COSM404733 INTS12 c.337G>C p.D113H Substitution - Missense Urinary_tract COSM422355 KIAA2026_ENST00000399933 c.358C>T p.R120C Substitution - Missense Urinary_tract COSM77557 DAXX c.143G>C p.R48T Substitution - Missense Ovary COSM51474 ARID1A c.1642C>T p.Q548* Substitution - Nonsense Breast COSM3813510 MPHOSPH8 c.785T>G p.V262G Substitution - Missense Breast COSM3153106 EP300 c.1781C>T p.T594M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5570709 ZCWPW1 c.409G>A p.V137I Substitution - Missense Prostate COSM1711566 MUM1 c.758C>T p.A253V Substitution - Missense Skin COSM5016854 NSD1 c.2781G>C p.L927F Substitution - Missense Kidney COSM3717766 BAHCC1 c.6675G>A p.A2225A Substitution - coding silent Liver COSM1045499 SETD2 c.494C>T p.P165L Substitution - Missense Endometrium COSM4725127 SETBP1 c.627G>A p.K209K Substitution - coding silent Large_intestine COSM401803 SMARCA4 c.3475G>T p.G1159W Substitution - Missense Lung COSM4700981 MBD5 c.3562G>A p.A1188T Substitution - Missense Large_intestine COSM147860 MTA1 c.1114G>A p.V372I Substitution - Missense Stomach COSM3650709 EYA1 c.1530G>A p.A510A Substitution - coding silent Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM5002573 SMARCA1 c.1093G>T p.A365S Substitution - Missense Pancreas COSM4384584 KMT2A c.1402C>A p.H468N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1007211 MBD5 c.158A>G p.Y53C Substitution - Missense Endometrium COSM4020854 TRIM33 c.3225T>C p.D1075D Substitution - coding silent Stomach COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM3758729 DIDO1 c.4702A>G p.T1568A Substitution - Missense Large_intestine COSM720929 ATAD2B_ENST00000238789 c.251A>T p.H84L Substitution - Missense Lung COSM3780928 EP400 c.3169G>A p.D1057N Substitution - Missense Pancreas COSM41294 IDH1 c.? p.R132C Substitution - Missense Soft_tissue COSM1307796 BRWD1 c.1708G>A p.D570N Substitution - Missense Urinary_tract COSM42022 TET2 c.? p.H762fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM452278 SND1 c.2661C>T p.S887S Substitution - coding silent Stomach COSM129646 TDRD6 c.3166G>C p.E1056Q Substitution - Missense Upper_aerodigestive_tract COSM970043 SETD1A c.1962G>A p.P654P Substitution - coding silent Endometrium COSM5891961 TDRD6 c.2117G>A p.G706E Substitution - Missense Skin COSM41292 IDH1 c.? p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1677504 MPHOSPH8 c.1889G>A p.R630Q Substitution - Missense Skin COSM13341 MSH6 c.3907G>A p.A1303T Substitution - Missense Central_nervous_system COSM4689693 HDAC6 c.3091_3092insC p.T1034fs*55 Insertion - Frameshift Large_intestine COSM221102 KMT2D c.13234_13235insAT p.T4412fs*116 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5055846 CHD3 c.4004G>A p.R1335Q Substitution - Missense Stomach COSM4832457 KDM1A c.1635C>T p.L545L Substitution - coding silent Cervix COSM4722921 RSF1 c.1652C>G p.S551C Substitution - Missense Large_intestine COSM132982 ASXL1 c.? p.C789fs*29 Frameshift Haematopoietic_and_lymphoid_tissue COSM1121579 KDM6A c.1213C>T p.P405S Substitution - Missense Endometrium COSM5581671 KMT2C c.9100C>T p.P3034S Substitution - Missense Skin COSM3767670 PRDM5 c.1157C>T p.A386V Substitution - Missense Liver COSM46427 HNF1A c.650_654delCCTAT p.A217fs*7 Deletion - Frameshift Liver COSM3705786 PRDM16 c.2611G>C p.E871Q Substitution - Missense Liver COSM1222119 PRMT8 c.743C>T p.T248I Substitution - Missense Large_intestine COSM1363345 MBD6 c.2074delC p.Q694fs*5 Deletion - Frameshift Large_intestine COSM1215014 MGA c.7333C>T p.R2445* Substitution - Nonsense Liver COSM4742953 ZMYND11 c.526T>C p.F176L Substitution - Missense Large_intestine COSM3781827 DHX30 c.3504C>T p.H1168H Substitution - coding silent Pancreas COSM3740452 TCF20 c.4069C>G p.Q1357E Substitution - Missense Liver COSM1107417 PSIP1 c.820G>A p.D274N Substitution - Missense Endometrium COSM3992320 ZBTB33 c.76C>T p.R26C Substitution - Missense Kidney COSM1331673 BRWD3 c.3860G>A p.R1287K Substitution - Missense Ovary COSM461049 DNMT3A c.428G>A p.R143Q Substitution - Missense Cervix COSM461906 L3MBTL3 c.1248T>C p.C416C Substitution - coding silent Cervix COSM4745660 SIRT3 c.7T>G p.F3V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM126105 SETD1A c.2065C>T p.R689W Substitution - Missense Upper_aerodigestive_tract COSM221081 KMT2D c.7917_7920delAAGT p.S2640fs*32 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1108207 TAF1L c.5338G>A p.E1780K Substitution - Missense Endometrium COSM43412 TET2 c.?_?del? p.?fs Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4167282 TET2 c.? p.V1833fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM4999610 ASXL3 c.2206C>A p.P736T Substitution - Missense Pancreas COSM1122141 SUV39H1 c.21C>A p.G7G Substitution - coding silent Endometrium COSM4141788 NIPBL c.1640A>G p.Q547R Substitution - Missense Ovary COSM4597864 PRDM9 c.2272C>A p.R758S Substitution - Missense Upper_aerodigestive_tract COSM4605565 KMT2C c.5353C>T p.Q1785* Substitution - Nonsense Upper_aerodigestive_tract COSM1411315 NCOA6 c.3416A>G p.E1139G Substitution - Missense Large_intestine COSM1491015 HDAC6 c.846G>T p.R282S Substitution - Missense Breast COSM905244 ACTA1 c.243G>A p.W81* Substitution - Nonsense Endometrium COSM4074976 BRD4 c.1985C>T p.S662F Substitution - Missense Stomach COSM5945700 ATRX c.? p.S1418fs*? Frameshift Central_nervous_system COSM4492964 BRWD3 c.4076C>T p.S1359F Substitution - Missense Skin COSM2270795 MGA c.2686C>T p.R896* Substitution - Nonsense Prostate COSM231527 PRMT10 c.1266_1281del16 p.S423fs*20 Deletion - Frameshift Skin COSM5913558 CHD8 c.1079C>T p.S360L Substitution - Missense Skin COSM5643478 UTY c.3692C>G p.S1231* Substitution - Nonsense Oesophagus COSM4578208 INOC1 c.305T>G p.L102R Substitution - Missense Bone COSM4736777 TRRAP c.5982C>T p.V1994V Substitution - coding silent Large_intestine COSM693913 KDM5A c.1076G>T p.R359L Substitution - Missense Lung COSM1449804 HDAC9 c.542C>T p.T181M Substitution - Missense Large_intestine COSM723976 NCOA6 c.5298G>A p.L1766L Substitution - coding silent Lung COSM39575 PRDM16 c.481A>G p.N161D Substitution - Missense Central_nervous_system COSM178447 AP001011.3_ENST00000320876 c.5525C>T p.A1842V Substitution - Missense Breast COSM4776962 HDAC7 c.829C>T p.R277W Substitution - Missense Breast COSM389414 CHD6 c.4564G>C p.D1522H Substitution - Missense Lung COSM4398963 KMT2C c.13614C>T p.I4538I Substitution - coding silent Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4168379 KDM2A c.2578_2579insGGG p.E859_E860insG Insertion - In frame Peritoneum COSM414761 RERE c.748T>G p.F250V Substitution - Missense Kidney COSM1108246 TAF1L c.1578G>A p.E526E Substitution - coding silent Endometrium COSM5012865 MGA c.2092+1G>T p.? Unknown Kidney COSM4472749 EZH1 c.1802C>T p.S601F Substitution - Missense Skin COSM738273 PRDM9 c.2208C>A p.L736L Substitution - coding silent Lung COSM4110916 TAF1 c.4587T>C p.H1529H Substitution - coding silent Stomach COSM3304175 KMT2C c.6149C>T p.P2050L Substitution - Missense Large_intestine COSM4457740 HDAC3 c.1057C>T p.Q353* Substitution - Nonsense Skin COSM1377596 MYST1 c.702_703insC p.G237fs*16 Insertion - Frameshift Autonomic_ganglia COSM4031027 ARID1A c.6762C>A p.Y2254* Substitution - Nonsense Stomach COSM5606646 JHDM1D c.784C>T p.P262S Substitution - Missense Skin COSM4828082 TET2 c.2281C>G p.P761A Substitution - Missense Cervix COSM1307641 ZGPAT c.387G>A p.L129L Substitution - coding silent Urinary_tract COSM1444085 BRPF3 c.3092C>T p.T1031M Substitution - Missense Large_intestine COSM3437329 EPC1 c.991C>T p.L331F Substitution - Missense Skin COSM5997476 PHF14 c.1914T>G p.A638A Substitution - coding silent Prostate COSM3463549 BAZ2A_ENST00000379441 c.810C>T p.V270V Substitution - coding silent Skin COSM51200 ASXL1 c.1888_1910del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3888576 GLYR1 c.1413C>T p.I471I Substitution - coding silent Skin COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4514178 TRDMT1 c.965C>T p.S322F Substitution - Missense Skin COSM133735 DNMT3A c.941G>A p.W314* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3615215 PRDM9 c.1469G>A p.G490E Substitution - Missense Skin COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4066641 EZH1 c.198A>G p.Q66Q Substitution - coding silent Stomach COSM1155718 ASXL1 c.3319C>T p.L1107F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM415327 KMT2A c.2637G>A p.E879E Substitution - coding silent Urinary_tract COSM120176 TET2 c.3813C>G p.C1271W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1091561 BAZ1B c.2470A>C p.I824L Substitution - Missense Endometrium COSM4960591 RERE c.1012G>A p.A338T Substitution - Missense Liver COSM4800691 NSD1 c.2891A>G p.N964S Substitution - Missense Liver COSM5621268 KMT2C c.2773T>C p.S925P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4582078 BRWD1 c.4066_4067insA p.T1356fs*18 Insertion - Frameshift Bone COSM4418353 SETD4 c.252C>T p.T84T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4851108 TRRAP c.4987C>T p.R1663C Substitution - Missense Cervix COSM263087 PRDM1 c.2194G>T p.E732* Substitution - Nonsense Large_intestine COSM470686 TP53BP1 c.1222A>G p.K408E Substitution - Missense Kidney COSM183667 PHF12 c.798C>T p.L266L Substitution - coding silent Skin COSM144567 PHF6 c.820C>T p.R274* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5423738 KDM4D c.567T>G p.F189L Substitution - Missense Prostate COSM4717496 PRDM2 c.1362C>G p.D454E Substitution - Missense Large_intestine COSM5576511 CARM1 c.1248C>T p.Y416Y Substitution - coding silent Skin COSM5063277 CHD7 c.4882G>A p.G1628R Substitution - Missense Stomach COSM162774 KAT6B c.4661A>G p.E1554G Substitution - Missense Breast COSM4440705 TBL1XR1 c.1274G>T p.R425M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4411435 CBX7 c.214_216AGA>G p.R72fs*43 Complex - frameshift Kidney COSM277801 TRIM24 c.376C>T p.R126C Substitution - Missense Skin COSM4810432 KIAA2026_ENST00000399933 c.5441C>G p.S1814* Substitution - Nonsense Breast COSM88087 KMT2D c.11902C>T p.R3968C Substitution - Missense Central_nervous_system COSM3368592 EED c.751A>G p.I251V Substitution - Missense Thyroid COSM30584 SMARCA4 c.1761G>T p.? Unknown Prostate COSM961528 MGA c.6757G>T p.E2253* Substitution - Nonsense Endometrium COSM144228 DAXX c.712C>T p.R238* Substitution - Nonsense Stomach COSM2270763 MGA c.871C>T p.R291W Substitution - Missense Biliary_tract COSM1073187 L3MBTL3 c.2195A>C p.D732A Substitution - Missense Endometrium COSM198796 PHF2 c.1468delA p.K492fs*6 Deletion - Frameshift Large_intestine COSM5350961 ZCWPW2 c.643C>T p.L215L Substitution - coding silent Lung COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4768943 RBBP4 c.823G>A p.E275K Substitution - Missense Biliary_tract COSM1732207 SETD2 c.376A>G p.K126E Substitution - Missense Kidney COSM5710324 ING3 c.920A>C p.K307T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM600057 EZH2 c.1689G>T p.P563P Substitution - coding silent Urinary_tract COSM1708025 INOC1 c.2671C>T p.L891F Substitution - Missense Skin COSM3640343 BAZ1B c.3720C>T p.S1240S Substitution - coding silent Skin COSM4591901 NCOR1 c.618+6T>A p.? Unknown Upper_aerodigestive_tract COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1334647 ASH1L c.7602A>C p.L2534L Substitution - coding silent Large_intestine COSM684024 MGMT c.260C>T p.P87L Substitution - Missense Lung COSM896910 ASH1L c.6827G>A p.R2276Q Substitution - Missense Endometrium COSM1755319 ACTB c.373G>A p.E125K Substitution - Missense Urinary_tract COSM1361268 KDM5A c.692G>A p.S231N Substitution - Missense Large_intestine COSM3521190 BPTF c.3764C>T p.S1255L Substitution - Missense Skin COSM5362852 MGA c.699C>A p.F233L Substitution - Missense Large_intestine COSM3731614 KAT6B c.678T>A p.N226K Substitution - Missense Stomach COSM1577235 MEN1 c.1298_1311>GCA p.H433fs*12 Complex - frameshift Parathyroid COSM3815995 INOC1 c.1400G>T p.R467M Substitution - Missense Breast COSM5599937 KMT2D c.9532C>T p.P3178S Substitution - Missense Skin COSM144593 DNMT3A c.?_?del70 p.R803fs*? Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2218373 PYGO1 c.832C>T p.R278* Substitution - Nonsense Large_intestine COSM5391807 ASXL1 c.892G>A p.D298N Substitution - Missense Skin COSM5100986 SMARCC2 c.1770+3A>G p.? Unknown Large_intestine COSM450265 PRDM1 c.1633G>A p.A545T Substitution - Missense Breast COSM5994433 SP100 c.1978C>T p.R660C Substitution - Missense Prostate COSM1189249 SRCAP c.1683G>C p.Q561H Substitution - Missense Lung COSM4385071 ASXL1 c.1488C>G p.N496K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144219 ATRX c.5178_5179insA p.E1727fs*7 Insertion - Frameshift Central_nervous_system COSM1235382 BAP1 c.1717_1717delC p.L573fs*3 Deletion - Frameshift Skin COSM1999579 KDM1A c.465C>T p.P155P Substitution - coding silent Large_intestine COSM1034560 EP300 c.4051G>T p.E1351* Substitution - Nonsense Endometrium COSM4954196 PHF14 c.2801A>G p.N934S Substitution - Missense Liver COSM4676233 DAXX c.2025C>A p.S675S Substitution - coding silent Large_intestine COSM5752484 KMT2C c.5682_5691del10 p.D1896fs*40 Deletion - Frameshift Breast COSM1258618 MYST3 c.1133C>G p.S378* Substitution - Nonsense Stomach COSM1645720 CHD4 c.4952A>C p.D1651A Substitution - Missense Kidney COSM3525436 ASXL3 c.1592C>T p.P531L Substitution - Missense Skin COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Upper_aerodigestive_tract COSM1348973 SFMBT2 c.319C>T p.R107C Substitution - Missense Large_intestine COSM1383301 KAT2A c.2415C>T p.R805R Substitution - coding silent Large_intestine COSM1384608 AKAP1 c.997A>G p.R333G Substitution - Missense Large_intestine COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Upper_aerodigestive_tract COSM937142 EP400 c.1290G>A p.E430E Substitution - coding silent Endometrium COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Central_nervous_system COSM1083678 MLL5 c.2704G>A p.D902N Substitution - Missense Endometrium COSM130345 ZMYM1 c.830C>G p.S277C Substitution - Missense Upper_aerodigestive_tract COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Soft_tissue COSM3735966 KDM4A c.1280T>C p.M427T Substitution - Missense Skin COSM1167840 SRCAP c.2504_2505insT p.L837fs*6 Insertion - Frameshift Skin COSM3307040 HDAC9 c.514G>A p.V172M Substitution - Missense Pancreas COSM1180918 ASXL1 c.1927delG p.G645fs*58 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5983720 BAZ2A_ENST00000379441 c.1915G>A p.E639K Substitution - Missense Upper_aerodigestive_tract COSM1209177 GTF3C4 c.1832C>T p.S611L Substitution - Missense Skin COSM41889 TET2 c.? p.C1396W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28793 KDM6A c.4161_4162delTG p.Y1387fs*1 Deletion - Frameshift Kidney COSM4603245 PCGF6 c.84_85insGCCTCC p.P28_V29insAS Insertion - In frame Upper_aerodigestive_tract COSM219140 TET2 c.1996_1997delGA p.D666fs*14 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4382509 TDRD1 c.1009G>A p.V337I Substitution - Missense Large_intestine COSM326519 SMNDC1 c.184G>C p.D62H Substitution - Missense Cervix COSM81410 MBD5 c.3906A>C p.G1302G Substitution - coding silent Ovary COSM146934 ERCC6 c.2751C>T p.G917G Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1333900 SETDB1 c.3766C>T p.R1256W Substitution - Missense Central_nervous_system COSM1083690 MLL5 c.4365G>A p.T1455T Substitution - coding silent Pancreas COSM3820848 CBX8 c.913A>C p.T305P Substitution - Missense Breast COSM3490658 ORC1 c.1920C>T p.P640P Substitution - coding silent Skin COSM133736 DNMT3A c.1792C>T p.R598* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1235026 PHF6 c.834+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1600979 HDGF c.649G>A p.E217K Substitution - Missense Liver COSM53247 TET2 c.1379C>T p.S460F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5353235 PRDM16 c.3102C>T p.N1034N Substitution - coding silent Large_intestine COSM52850 PBRM1 c.1930_1939del10 p.K644fs*9 Deletion - Frameshift Kidney COSM5816426 KMT2C c.10860G>T p.K3620N Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM110818 BAP1 c.1_2190del2190 p.0? Whole gene deletion Pleura COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1169485 BAP1 c.29G>A p.S10N Substitution - Missense Kidney COSM3749492 DOT1L c.4156G>A p.G1386S Substitution - Missense Large_intestine COSM1377001 JMJD5 c.844-1G>T p.? Unknown Large_intestine COSM1018652 ATAD2B_ENST00000238789 c.2692C>T p.P898S Substitution - Missense Endometrium COSM1732113 KDM5C c.4649C>T p.P1550L Substitution - Missense Kidney COSM340143 GATAD2B c.125G>A p.R42H Substitution - Missense Lung COSM4010586 BRDT c.389T>C p.L130S Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1197300 LMNB2 c.1529C>T p.T510M Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM96360 BAP1 c.784-2A>C p.? Unknown Pleura COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM278971 ARID2 c.940C>T p.R314C Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM448653 KDM3B c.952G>A p.E318K Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM402388 MECOM c.1065G>T p.K355N Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5888913 JARID2 c.820C>T p.P274S Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM22594 MEN1 c.758C>T p.S253L Substitution - Missense Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1109476 KIAA2026_ENST00000399933 c.1720C>T p.R574C Substitution - Missense Endometrium COSM1009811 ATF2 c.241G>T p.E81* Substitution - Nonsense Endometrium COSM677826 TDRD5 c.2921C>A p.P974H Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM292731 CHD1 c.3960delA p.E1321fs*22 Deletion - Frameshift Stomach COSM1342127 ZMYM4 c.1282delA p.K430fs*6 Deletion - Frameshift Stomach COSM3735022 SMARCA4 c.4687_4687delA p.I1564fs*32 Deletion - Frameshift Ovary COSM1266266 AP001011.3_ENST00000320876 c.4270C>T p.P1424S Substitution - Missense Oesophagus COSM87007 DNMT3A c.2711C>T p.P904L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5394461 EPC2 c.368C>T p.T123I Substitution - Missense Skin COSM711009 GATAD2A c.1329G>T p.T443T Substitution - coding silent Lung COSM4621066 DOT1L c.2844C>T p.A948A Substitution - coding silent Large_intestine COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM753646 TAF1L c.4740G>T p.K1580N Substitution - Missense Lung COSM5365209 DNMT1 c.3935G>A p.R1312Q Substitution - Missense Large_intestine COSM3294808 EYA2 c.1530G>A p.A510A Substitution - coding silent Skin COSM1049116 BRPF1 c.596A>G p.Y199C Substitution - Missense Endometrium COSM680969 ZMYM1 c.1536G>T p.K512N Substitution - Missense Lung COSM1427437 PRMT10 c.428G>A p.R143H Substitution - Missense Large_intestine COSM3966775 RERE c.467C>T p.P156L Substitution - Missense Central_nervous_system COSM335837 SMARCA4 c.991C>T p.Q331* Substitution - Nonsense Lung COSM3873169 DAXX c.1414G>A p.E472K Substitution - Missense Stomach COSM138404 MECOM c.743G>A p.G248D Substitution - Missense Skin COSM360609 HDAC6 c.3624G>T p.G1208G Substitution - coding silent Lung COSM32447 ZMYM4 c.1290delA p.K430fs*6 Deletion - Frameshift Large_intestine COSM937503 ATF7IP c.1873C>T p.R625* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4046323 MPHOSPH8 c.2459A>G p.D820G Substitution - Missense Stomach COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Endometrium COSM1103004 TDRD7 c.892C>A p.L298I Substitution - Missense Endometrium COSM3615222 PRDM9 c.2398G>A p.G800R Substitution - Missense Skin COSM3447397 PRDM11 c.1411C>T p.P471S Substitution - Missense Skin COSM5445877 RAI1 c.870_872delGCA p.Q291delQ Deletion - In frame Thyroid COSM3545250 ASXL1 c.608C>T p.S203F Substitution - Missense Skin COSM3604095 GABRG1 c.586C>T p.P196S Substitution - Missense Skin COSM745851 KMT2C c.3281A>G p.Y1094C Substitution - Missense Lung COSM24692 HNF1A c.787C>T p.R263C Substitution - Missense Liver COSM22608 MEN1 c.292C>T p.R98* Substitution - Nonsense Pancreas COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13837 ATRX c.2719C>T p.R907* Substitution - Nonsense Central_nervous_system COSM85093 KMT2C c.7016A>T p.N2339I Substitution - Missense Pancreas COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85923 ASXL1 c.1934_1934delG p.G645fs*58 Deletion - Frameshift Large_intestine COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Pancreas COSM50881 BAP1 c.781C>T p.Q261* Substitution - Nonsense Eye COSM76813 TIF1 c.2904G>C p.K968N Substitution - Missense Ovary COSM95404 TRIM33 c.379G>A p.V127M Substitution - Missense Lung COSM87081 TET2 c.1037_1038insAGCT p.G349fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM87173 TET2 c.4936_4937ins50 p.L1646fs*66 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM110738 BAP1 c.901G>A p.A301T Substitution - Missense Skin COSM145934 SIRT4 c.466C>T p.R156C Substitution - Missense Prostate COSM159984 CHD7 c.2552G>A p.R851K Substitution - Missense Breast COSM171638 PRDM10 c.2548C>T p.R850* Substitution - Nonsense Large_intestine COSM212434 KDM6A c.3763C>T p.R1255W Substitution - Missense Stomach COSM300410 CREBBP c.4893C>A p.V1631V Substitution - coding silent Large_intestine COSM312122 JMJD6 c.463T>G p.F155V Substitution - Missense Soft_tissue COSM328673 ARID2 c.1607_1608delCA p.P536fs*12 Deletion - Frameshift Liver COSM341126 DOT1L c.742G>T p.E248* Substitution - Nonsense Lung COSM359264 SMARCA4 c.2008G>T p.E670* Substitution - Nonsense Lung COSM397478 BAZ1A c.734C>G p.S245C Substitution - Missense Lung COSM417044 SRCAP c.4335C>T p.T1445T Substitution - coding silent Urinary_tract COSM417168 RAI1 c.4069C>A p.L1357M Substitution - Missense Urinary_tract COSM428822 PRMT3 c.435C>T p.P145P Substitution - coding silent Breast COSM482578 NSD1 c.7980G>A p.Q2660Q Substitution - coding silent Kidney COSM683253 TDRD1 c.303A>T p.G101G Substitution - coding silent Lung COSM1028999 DIDO1 c.542T>G p.L181R Substitution - Missense Endometrium COSM740035 EYA4 c.1865C>T p.S622F Substitution - Missense Lung COSM740326 JARID2 c.1389G>T p.A463A Substitution - coding silent Lung COSM894173 TRIM33 c.2966C>T p.S989L Substitution - Missense Endometrium COSM958935 UBR7 c.900C>G p.D300E Substitution - Missense Endometrium COSM3724483 ARID2 c.4111C>T p.H1371Y Substitution - Missense Large_intestine COSM1061347 KDM3B c.3073C>T p.R1025C Substitution - Missense Endometrium COSM1122182 HDAC6 c.891C>T p.F297F Substitution - coding silent Endometrium COSM1109474 KIAA2026_ENST00000399933 c.1900G>T p.E634* Substitution - Nonsense Endometrium COSM1100885 CHD7 c.7373T>G p.F2458C Substitution - Missense Endometrium COSM1087631 KMT2C c.3291_3293delAGA p.E1097delE Deletion - In frame Endometrium COSM1233540 ZMYM6 c.316T>C p.Y106H Substitution - Missense Large_intestine COSM1205374 EP300 c.5585A>C p.Q1862P Substitution - Missense Large_intestine COSM1162748 BRD9 c.928A>T p.M310L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1220380 PHF3 c.605G>A p.R202Q Substitution - Missense Breast COSM1189285 SETD6 c.551G>A p.R184H Substitution - Missense Large_intestine COSM1286292 MTA2 c.1678C>T p.R560W Substitution - Missense Autonomic_ganglia COSM1313467 TRRAP c.9118A>G p.T3040A Substitution - Missense Urinary_tract COSM1304317 DOT1L c.2406G>A p.S802S Substitution - coding silent Urinary_tract COSM1420490 MECOM c.536_537insCACAA p.K179fs*9 Insertion - Frameshift Large_intestine COSM1441828 ARID1B c.5413G>T p.G1805W Substitution - Missense Large_intestine COSM1461793 SMARCA2 c.4112C>A p.P1371H Substitution - Missense Large_intestine COSM1468516 KDM5C c.1395A>T p.E465D Substitution - Missense Large_intestine COSM1363739 CHD4 c.4393C>T p.R1465W Substitution - Missense Large_intestine COSM1341430 ARID1A c.6415delC p.F2141fs*59 Deletion - Frameshift Stomach COSM1566684 PBRM1 c.2211A>G p.T737T Substitution - coding silent Soft_tissue COSM1495070 ZMYND8 c.1348C>T p.P450S Substitution - Missense Kidney COSM1634944 PHIP c.1816G>C p.V606L Substitution - Missense Liver COSM1680347 SETBP1 c.3586G>T p.E1196* Substitution - Nonsense Large_intestine COSM1757126 NIPBL c.2134G>C p.E712Q Substitution - Missense Urinary_tract COSM144602 KMT2D c.14357T>C p.L4516P Substitution - Missense Large_intestine COSM2157634 PRDM10 c.1085_1086insC p.R363fs*16 Insertion - Frameshift Central_nervous_system COSM2151519 CLOCK c.416C>A p.T139N Substitution - Missense Central_nervous_system COSM2105650 KMT2A c.11512A>G p.I3838V Substitution - Missense Large_intestine COSM2966610 HDAC6 c.2504G>A p.R835Q Substitution - Missense Stomach COSM3087164 BAZ1B c.1378A>G p.T460A Substitution - Missense Stomach COSM3203721 MECOM c.443G>A p.R148Q Substitution - Missense Central_nervous_system COSM3296120 MBD5 c.1171A>G p.M391V Substitution - Missense Upper_aerodigestive_tract COSM3296141 MBD5 c.1588A>G p.S530G Substitution - Missense Large_intestine COSM3355896 ASH1L c.4999T>C p.S1667P Substitution - Missense Breast COSM3361793 BRD7 c.680C>T p.S227L Substitution - Missense Kidney COSM3358464 BAP1 c.2149delC p.R717fs*>13 Deletion - Frameshift Kidney COSM3366456 EHMT2 c.2908C>G p.H970D Substitution - Missense Kidney COSM3386229 ORC1 c.2489G>A p.R830H Substitution - Missense Pancreas COSM3410215 PRDM9 c.521A>G p.K174R Substitution - Missense Central_nervous_system COSM3402636 RAI1 c.925G>A p.A309T Substitution - Missense Central_nervous_system COSM3480144 RNF2 c.34C>T p.P12S Substitution - Missense Skin COSM3432965 BRD3 c.946G>A p.D316N Substitution - Missense Large_intestine COSM3458528 ATF7IP c.1197A>G p.E399E Substitution - coding silent Skin COSM3447302 ALKBH3 c.800A>T p.E267V Substitution - Missense Skin COSM3514748 RAI1 c.2392C>T p.P798S Substitution - Missense Skin COSM3685188 ACTB c.1040C>G p.A347G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3735046 TET2 c.4853_4856delACCC p.Y1618fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3812049 ARID2 c.3877C>A p.L1293I Substitution - Missense Breast COSM3792367 EP400 c.134C>T p.S45L Substitution - Missense Urinary_tract COSM3930039 KIAA1045 c.325C>T p.R109W Substitution - Missense Central_nervous_system COSM3874512 TDRD6 c.508G>A p.V170I Substitution - Missense Stomach COSM4016202 TAF3 c.2668T>C p.Y890H Substitution - Missense Stomach COSM4018292 KMT2A c.2585G>A p.R862Q Substitution - Missense Stomach COSM4035256 MEN1 c.781C>T p.Q261* Substitution - Nonsense Stomach COSM4098460 CHD6 c.2743C>T p.R915C Substitution - Missense Stomach COSM4123995 WHSC1 c.1501C>T p.R501C Substitution - Missense Stomach COSM4060717 CREBBP c.1854C>T p.P618P Substitution - coding silent Stomach COSM4384248 EZH2 c.2048C>T p.T683I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4407941 SFMBT1 c.121C>T p.H41Y Substitution - Missense Pancreas COSM4604244 PHIP c.1301G>A p.R434Q Substitution - Missense Upper_aerodigestive_tract COSM4603241 KDM6B c.761_762insACCACC p.P264_L265insPP Insertion - In frame Upper_aerodigestive_tract COSM4431404 ZCWPW1 c.1089_1090insT p.G364fs*33 Insertion - Frameshift Oesophagus COSM4435899 KDM6A c.3946G>C p.E1316Q Substitution - Missense Oesophagus COSM4492766 BRWD3 c.4031C>T p.S1344F Substitution - Missense Skin COSM4579480 SMYD4 c.268C>G p.L90V Substitution - Missense Bone COSM4469291 KDM6B c.1592C>G p.S531C Substitution - Missense Skin COSM4464630 HDAC9 c.1343C>T p.P448L Substitution - Missense Skin COSM4448111 BAHCC1 c.3866_3867CC>TT p.P1289L Substitution - Missense Skin COSM4717524 PRDM9 c.1246T>G p.F416V Substitution - Missense Large_intestine COSM4679207 DOT1L c.2803G>A p.A935T Substitution - Missense Large_intestine COSM4728471 SMEK2 c.522delA p.K174fs*12 Deletion - Frameshift Large_intestine COSM4611184 TCF19 c.66delC p.A25fs*72 Deletion - Frameshift Large_intestine COSM4748266 ZMYND11 c.758T>G p.F253C Substitution - Missense Stomach COSM4749833 DNMT1 c.3488C>T p.T1163M Substitution - Missense Stomach COSM4793846 PHF15 c.1500G>A p.Q500Q Substitution - coding silent Liver COSM4792180 PHF12 c.474A>T p.E158D Substitution - Missense Liver COSM4779054 PRDM1 c.1184T>C p.M395T Substitution - Missense Liver COSM4884311 PRDM9 c.1085G>A p.G362D Substitution - Missense Upper_aerodigestive_tract COSM4913489 SETD1A c.2003G>T p.R668L Substitution - Missense Liver COSM4909786 EP400 c.5292G>T p.A1764A Substitution - coding silent Liver COSM4933073 ARID1A c.6203C>G p.S2068W Substitution - Missense Liver COSM4919159 HDAC9 c.2322+1G>A p.? Unknown Liver COSM4856856 SMARCA4 c.1603G>A p.E535K Substitution - Missense Cervix COSM4830284 KMT2D c.14107G>C p.D4703H Substitution - Missense Cervix COSM4855962 GLYR1 c.1494C>G p.F498L Substitution - Missense Cervix COSM4823632 PRMT5 c.39C>T p.R13R Substitution - coding silent Cervix COSM4958728 PRMT8 c.193C>T p.L65L Substitution - coding silent Liver COSM4957733 AP001011.3_ENST00000320876 c.4895A>G p.Q1632R Substitution - Missense Liver COSM5022469 SP140_ENST00000392045 c.2566G>A p.E856K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5025574 ATAD2B_ENST00000238789 c.1256C>A p.P419Q Substitution - Missense Breast COSM5019699 HNF1A c.864G>C p.G288G Substitution - coding silent Soft_tissue COSM5020622 KMT2A c.5670A>G p.L1890L Substitution - coding silent Soft_tissue COSM5063315 EYA1 c.966+2T>C p.? Unknown Stomach COSM5377349 TTF2 c.126C>T p.A42A Substitution - coding silent Skin COSM5354264 HDAC4 c.107C>T p.T36M Substitution - Missense Large_intestine COSM5495355 MSH6 c.3855C>G p.F1285L Substitution - Missense Biliary_tract COSM5467079 KMT2C c.8444A>C p.K2815T Substitution - Missense Large_intestine COSM5483475 JMJD1C c.3476G>A p.G1159D Substitution - Missense Large_intestine COSM5484014 SRCAP c.3287C>T p.T1096I Substitution - Missense Large_intestine COSM5425833 ZBTB38 c.2475G>A p.P825P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5753951 SMARCD1 c.781C>T p.R261C Substitution - Missense Large_intestine COSM5771336 SMARCA2 c.3796C>G p.R1266G Substitution - Missense Breast COSM5722283 BAHD1 c.294G>A p.K98K Substitution - coding silent Skin COSM5724968 ARID2 c.4795C>T p.P1599S Substitution - Missense Skin COSM5660382 PRDM2 c.3629A>T p.Q1210L Substitution - Missense Soft_tissue COSM5665456 SMARCA1 c.421G>C p.A141P Substitution - Missense Soft_tissue COSM5800458 KMT2D c.4660G>A p.D1554N Substitution - Missense Breast COSM5802164 DNMT3L c.1155delC p.S386fs*>2 Deletion - Frameshift Breast COSM5806755 ZBTB38 c.996G>A p.P332P Substitution - coding silent Liver COSM5945596 PHF6 c.637G>A p.G213R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5941632 DNMT3A c.800C>T p.S267F Substitution - Missense Skin COSM5895814 EYA4 c.613G>A p.E205K Substitution - Missense Skin COSM5964042 SETD5_ENST00000402198 c.2314C>G p.L772V Substitution - Missense Breast COSM5975533 NSD1 c.2835T>C p.S945S Substitution - coding silent Upper_aerodigestive_tract COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM166348 DNMT3A c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM5945698 ATRX c.? p.L1602* Substitution - Nonsense Central_nervous_system COSM1685350 EZH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM86077 IDH2 c.? p.R172M Substitution - Missense Central_nervous_system COSM53137 TET2 c.? p.N1743fs*17 Frameshift Haematopoietic_and_lymphoid_tissue COSM5347191 ARID1A c.?_?del? p.E1904fs*? Deletion - Frameshift Endometrium COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3053498 SMEK2 c.419A>G p.N140S Substitution - Missense Upper_aerodigestive_tract COSM36248 IDH1 c.? p.R132? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1301884 SRCAP c.5775C>T p.F1925F Substitution - coding silent Skin COSM4383586 DNMT3A c.1097G>C p.R366P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4766174 TET2 c.5734C>T p.H1912Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3624657 BAG6 c.1218C>T p.S406S Substitution - coding silent Large_intestine COSM243046 ARID1A c.4948C>T p.Q1650* Substitution - Nonsense Endometrium COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM139045 CHD3 c.1168G>T p.E390* Substitution - Nonsense Skin COSM3166305 ATAD2 c.3906C>T p.S1302S Substitution - coding silent Large_intestine COSM1316646 ATAD2B_ENST00000238789 c.1067C>A p.A356E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4460337 PRDM9 c.1161C>T p.I387I Substitution - coding silent Skin COSM1449394 KMT2C c.11094G>A p.T3698T Substitution - coding silent Large_intestine COSM4655364 NIPBL c.6007G>A p.V2003I Substitution - Missense Large_intestine COSM240057 GTF3C1 c.5341G>A p.A1781T Substitution - Missense Prostate COSM3453546 RSF1 c.3889C>T p.R1297C Substitution - Missense Skin COSM2006573 KMT2D c.15532C>T p.R5178* Substitution - Nonsense Central_nervous_system COSM3253968 MLL5 c.3375C>T p.S1125S Substitution - coding silent Large_intestine COSM417667 DOT1L c.1135G>A p.E379K Substitution - Missense Urinary_tract COSM4725147 SETD1A c.4615G>A p.E1539K Substitution - Missense Large_intestine COSM240613 MBD5 c.2308C>T p.H770Y Substitution - Missense Prostate COSM5792452 GATAD2B c.498C>G p.I166M Substitution - Missense Breast COSM251395 ARID2 c.1716-2A>G p.? Unknown Liver COSM988378 SETBP1 c.1898C>T p.A633V Substitution - Missense Endometrium COSM5702523 BAP1 c.255G>C p.Q85H Substitution - Missense Eye COSM4835121 PHF13 c.769C>T p.H257Y Substitution - Missense Cervix COSM4702412 KMT2D c.14795C>T p.A4932V Substitution - Missense Large_intestine COSM52779 PBRM1 c.2335C>T p.Q779* Substitution - Nonsense Kidney COSM1124820 ZMYM3 c.558C>T p.S186S Substitution - coding silent Endometrium COSM4113236 RUVBL1 c.436C>T p.P146S Substitution - Missense Stomach COSM3528445 SMARCA4 c.4410C>T p.I1470I Substitution - coding silent Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM166344 DNMT3A c.? p.R882G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM133133 DNMT3A c.2666T>C p.L889P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5767228 CHD8 c.5477G>C p.W1826S Substitution - Missense Breast COSM3490663 ORC1 c.1137C>T p.I379I Substitution - coding silent Skin COSM482564 NSD1 c.959A>G p.K320R Substitution - Missense Kidney COSM1635198 KMT2C c.2185A>G p.N729D Substitution - Missense Upper_aerodigestive_tract COSM1615672 NCOA5 c.1018C>T p.P340S Substitution - Missense Liver COSM1084069 PHF14 c.2027G>A p.R676Q Substitution - Missense Endometrium COSM293638 GABRG1 c.792delT p.F264fs*3 Deletion - Frameshift Stomach COSM470606 RTF1 c.723G>A p.R241R Substitution - coding silent Stomach COSM4012670 MGMT c.8A>G p.K3R Substitution - Missense Stomach COSM988832 MBD1 c.1105C>T p.R369C Substitution - Missense Endometrium COSM5397553 SMYD1 c.1055_1056GG>AA p.R352Q Substitution - Missense Skin COSM3831980 TRIM24 c.1598C>A p.P533H Substitution - Missense Breast COSM43417 TET2 c.2746C>T p.Q916* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4587277 KMT2C c.1017G>C p.K339N Substitution - Missense Upper_aerodigestive_tract COSM4587277 KMT2C c.1017G>C p.K339N Substitution - Missense Upper_aerodigestive_tract COSM317631 KMT2A c.9479A>G p.Q3160R Substitution - Missense Lung COSM1021891 SMEK2 c.825C>A p.I275I Substitution - coding silent Endometrium COSM4499469 BRWD3 c.542C>T p.S181L Substitution - Missense Skin COSM4605164 NSD1 c.3394G>T p.G1132* Substitution - Nonsense Upper_aerodigestive_tract COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4689693 HDAC6 c.3091_3092insC p.T1034fs*55 Insertion - Frameshift Large_intestine COSM1611472 DNMT1 c.1897G>A p.A633T Substitution - Missense Liver COSM285562 TAF3 c.1174G>A p.D392N Substitution - Missense Large_intestine COSM3627950 TDRD6 c.1338C>T p.V446V Substitution - coding silent Skin COSM4791692 HNF1A c.590A>C p.K197T Substitution - Missense Liver COSM2155917 HDAC8 c.561C>T p.D187D Substitution - coding silent Central_nervous_system COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Central_nervous_system COSM3909083 PHF2 c.2790C>T p.I930I Substitution - coding silent Stomach COSM3968328 SMARCC2 c.1420C>T p.R474* Substitution - Nonsense Central_nervous_system COSM3455337 TDG c.625C>T p.R209C Substitution - Missense Skin COSM3521635 PHF23 c.470C>T p.T157I Substitution - Missense Skin COSM99084 MSH6 c.1870G>A p.G624S Substitution - Missense Oesophagus COSM1720799 TRRAP c.5114G>A p.G1705D Substitution - Missense Skin COSM3113476 SETD1A c.541G>C p.E181Q Substitution - Missense Lung COSM4509632 ZMYM1 c.812C>T p.P271L Substitution - Missense Skin COSM4010590 BRDT c.2403G>A p.K801K Substitution - coding silent Stomach COSM4646442 KMT2D c.9024A>G p.Q3008Q Substitution - coding silent Large_intestine COSM4635326 SIRT5 c.618G>A p.R206R Substitution - coding silent Large_intestine COSM4627391 JMJD5 c.93A>G p.E31E Substitution - coding silent Large_intestine COSM4596479 BAHCC1 c.5240A>C p.N1747T Substitution - Missense Upper_aerodigestive_tract COSM5656405 BAP1 c.? p.E242* Substitution - Nonsense Pleura COSM1629872 SRCAP c.1933A>G p.M645V Substitution - Missense Liver COSM2819123 PRDM15 c.2035C>T p.R679W Substitution - Missense Large_intestine COSM4787722 BAZ2A_ENST00000379441 c.2981A>G p.K994R Substitution - Missense Liver COSM1349984 HELLS c.685G>A p.E229K Substitution - Missense Large_intestine COSM4104161 CBX6 c.374G>A p.R125H Substitution - Missense Stomach COSM5505312 PRMT3 c.1318C>G p.L440V Substitution - Missense Biliary_tract COSM5458336 SETD1B c.979G>A p.V327I Substitution - Missense Large_intestine COSM360674 UTY c.129G>A p.R43R Substitution - coding silent Lung COSM261527 KDM5A c.2473G>T p.E825* Substitution - Nonsense Large_intestine COSM3304542 KMT2C c.1181G>A p.C394Y Substitution - Missense Oesophagus COSM4393551 HDAC9 c.2878G>T p.D960Y Substitution - Missense Prostate COSM5943816 PRDM5 c.1613_1623+24del35 p.? Unknown Skin COSM3662910 SND1 c.1609G>A p.G537S Substitution - Missense Liver COSM43214 TET2 c.5541G>A p.W1847* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1318081 EED c.224C>A p.S75* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1035249 BRD1 c.1281G>T p.R427S Substitution - Missense Endometrium COSM274985 EPC2 c.1693T>G p.L565V Substitution - Missense Large_intestine COSM5740244 MTA1 c.977A>G p.Y326C Substitution - Missense Small_intestine COSM5576299 ARID1A c.6601_6602insAC p.S2202fs*30 Insertion - Frameshift Stomach COSM3621290 SHPRH c.4761C>T p.P1587P Substitution - coding silent Skin COSM5774605 TAF1L c.4333G>A p.D1445N Substitution - Missense Breast COSM5520225 MGA c.8440G>A p.G2814R Substitution - Missense Biliary_tract COSM4651324 BAHCC1 c.6596G>A p.R2199Q Substitution - Missense Large_intestine COSM593780 CHD1 c.4108-6C>G p.? Unknown Ovary COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3233486 FMR1 c.1897T>C p.*633Q Nonstop extension Pancreas COSM5911934 MECOM c.256G>A p.D86N Substitution - Missense Skin COSM4732916 TDRD6 c.5446T>G p.F1816V Substitution - Missense Large_intestine COSM946187 RNF17 c.537G>A p.T179T Substitution - coding silent Skin COSM252979 CLOCK c.368delT p.L123fs*1 Deletion - Frameshift Pancreas COSM5051454 EP400 c.86_87insGG p.A30fs*33 Insertion - Frameshift Stomach COSM293304 HCFC1 c.105G>A p.P35P Substitution - coding silent Large_intestine COSM2157140 MSL3 c.1282-1G>A p.? Unknown Central_nervous_system COSM4970719 KIAA2026_ENST00000399933 c.2258C>G p.T753S Substitution - Missense Central_nervous_system COSM221607 TET2 c.4935T>G p.Y1645* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4472550 IDH2 c.178C>T p.R60C Substitution - Missense Skin COSM307762 TET2 c.? p.Y867H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM321153 KDM5C c.3460G>T p.E1154* Substitution - Nonsense Lung COSM4059663 GTF3C1 c.901G>A p.G301R Substitution - Missense Stomach COSM5599929 MGA c.4643C>T p.S1548F Substitution - Missense Skin COSM1606228 SMARCD1 c.225G>A p.Q75Q Substitution - coding silent Liver COSM5784561 IDH2 c.1325A>G p.K442R Substitution - Missense Breast COSM3494938 CHD8 c.3325C>T p.L1109L Substitution - coding silent Skin COSM987407 AP001011.3_ENST00000320876 c.2748G>T p.Q916H Substitution - Missense Endometrium COSM3934774 ORC1 c.807G>A p.S269S Substitution - coding silent Oesophagus COSM3724476 ARID1A c.2657_2657delC p.P886fs*5 Deletion - Frameshift Large_intestine COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4449080 KDM5A c.166-1G>A p.? Unknown Skin COSM5600552 SP110 c.733C>T p.P245S Substitution - Missense Skin COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4957719 CHD1 c.16G>A p.D6N Substitution - Missense Liver COSM477649 PCGF1 c.708G>A p.L236L Substitution - coding silent Kidney COSM4054575 MGA c.7576C>T p.Q2526* Substitution - Nonsense Stomach COSM3017526 SHPRH c.4903A>G p.R1635G Substitution - Missense Large_intestine COSM4468974 ZBTB4 c.1573C>T p.P525S Substitution - Missense Skin COSM5979268 SHPRH c.391G>C p.E131Q Substitution - Missense Upper_aerodigestive_tract COSM3396810 KMT2C c.2072C>G p.S691C Substitution - Missense Breast COSM1621140 ARID1B c.6211C>G p.L2071V Substitution - Missense Liver COSM1121696 PHF16 c.1234C>T p.R412* Substitution - Nonsense Endometrium COSM3958885 CBX8 c.761A>G p.Q254R Substitution - Missense Lung COSM4765103 ARID1A c.3277_3278insA p.Q1095fs*10 Insertion - Frameshift Liver COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1480707 BRD4 c.1638G>C p.K546N Substitution - Missense Cervix COSM1737509 ASH1L c.1681A>G p.T561A Substitution - Missense Central_nervous_system COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1216856 NCOA2 c.286G>T p.E96* Substitution - Nonsense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5487276 SMARCA2 c.3810G>A p.R1270R Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1359416 HNF1A c.833G>A p.R278Q Substitution - Missense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM455667 EHMT1 c.3692A>G p.K1231R Substitution - Missense Breast COSM4772606 BRDT c.1264C>T p.R422C Substitution - Missense Stomach COSM3735426 RSF1 c.2612C>T p.S871F Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3528105 DNMT1 c.2551C>T p.P851S Substitution - Missense Skin COSM2044754 PHC1 c.347G>A p.R116Q Substitution - Missense Breast COSM996184 SIRT2 c.383C>T p.P128L Substitution - Missense Large_intestine COSM1394330 UHRF1 c.2014_2015insC p.P674fs*35 Insertion - Frameshift Central_nervous_system COSM2866901 TRRAP c.11148C>T p.S3716S Substitution - coding silent Skin COSM3650678 PRDM14 c.567G>A p.G189G Substitution - coding silent Skin COSM1669897 HDAC4 c.500C>T p.A167V Substitution - Missense Large_intestine COSM3671167 CHD4 c.3148G>T p.G1050W Substitution - Missense Prostate COSM3349831 DAXX c.10G>A p.A4T Substitution - Missense Large_intestine COSM4384070 NSD1 c.2912G>A p.G971D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3866546 TDRD1 c.1082G>A p.R361K Substitution - Missense Skin COSM443340 SMYD1 c.337C>A p.R113R Substitution - coding silent Upper_aerodigestive_tract COSM1717902 ASXL1 c.2498_2501delGTCA p.S833fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4022077 SETDB1 c.2446G>T p.G816C Substitution - Missense Stomach COSM1386246 JMJD6 c.184C>T p.R62W Substitution - Missense Central_nervous_system COSM5819685 CHD6 c.4015A>T p.T1339S Substitution - Missense Liver COSM24919 HNF1A c.197_198insA p.T67fs*29 Insertion - Frameshift Liver COSM1616093 PRDM15 c.2026C>A p.P676T Substitution - Missense Liver COSM334034 BRD7 c.406C>T p.L136F Substitution - Missense Lung COSM1167994 ARID2 c.2128C>T p.P710S Substitution - Missense Skin COSM1319007 EZH2 c.2231_2232insTGCAT p.E745fs*>9 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4681121 EP400 c.4021C>G p.R1341G Substitution - Missense Large_intestine COSM3953824 RSF1 c.1138G>T p.A380S Substitution - Missense Lung COSM1230822 TTF2 c.2611A>C p.K871Q Substitution - Missense Large_intestine COSM132978 ASXL1 c.? p.R965* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1314791 KIAA1045 c.779G>A p.R260Q Substitution - Missense Skin COSM1671892 BRD8 c.2313A>C p.E771D Substitution - Missense Large_intestine COSM5457501 BRWD3 c.4906G>A p.V1636I Substitution - Missense Large_intestine COSM1025728 ASXL1 c.1979G>A p.G660D Substitution - Missense Endometrium COSM3786313 RNF134 c.684G>T p.Q228H Substitution - Missense Pancreas COSM48859 BAP1 c.1153C>T p.R385* Substitution - Nonsense Lung COSM4592311 JARID2 c.2084C>G p.A695G Substitution - Missense Upper_aerodigestive_tract COSM213379 BRWD3 c.734T>C p.V245A Substitution - Missense Breast COSM1234985 RBBP4 c.988G>A p.E330K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM255213 MEN1 c.1621A>G p.T541A Substitution - Missense Soft_tissue COSM305319 KDM6A c.618_619+2delAAGT p.? Unknown Breast COSM3879596 KMT2C c.2604T>G p.I868M Substitution - Missense Stomach COSM5450248 BRPF3 c.1866+7T>C p.? Unknown Large_intestine COSM4070310 CBX8 c.295G>C p.A99P Substitution - Missense Stomach COSM3814982 ARID4A c.1353C>T p.I451I Substitution - coding silent Stomach COSM5821249 TDRD1 c.1658C>A p.S553* Substitution - Nonsense Liver COSM3362105 PCGF2 c.192G>A p.R64R Substitution - coding silent Kidney COSM693639 KMT2D c.400+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4387469 EP300 c.4307G>T p.W1436L Substitution - Missense Oesophagus COSM3399116 APOBEC1 c.553A>G p.I185V Substitution - Missense Central_nervous_system COSM5720356 CHD1 c.3610A>T p.I1204L Substitution - Missense Skin COSM1163361 WHSC1 c.4020_4021insC p.E1344fs*>23 Insertion - Frameshift Large_intestine COSM1644739 LMNB2 c.305G>A p.G102E Substitution - Missense Salivary_gland COSM4791908 ZMYM3 c.2261A>C p.Q754P Substitution - Missense Liver COSM5810106 SIRT5 c.727G>C p.D243H Substitution - Missense Liver COSM1488391 KMT2C c.10181G>A p.S3394N Substitution - Missense Breast COSM3645232 PHF20L1 c.22C>T p.R8C Substitution - Missense Skin COSM1389495 L3MBTL4 c.1545delT p.R516fs*63 Deletion - Frameshift Large_intestine COSM704853 RAI1 c.1135A>T p.T379S Substitution - Missense Lung COSM4888664 ORC1 c.2138C>A p.A713E Substitution - Missense Upper_aerodigestive_tract COSM3551336 AIRE c.852C>T p.A284A Substitution - coding silent Skin COSM6007558 GTF3C4 c.2020G>A p.G674R Substitution - Missense Prostate COSM4499689 TCF20 c.5480C>T p.S1827F Substitution - Missense Skin COSM2150337 TIF1 c.1172G>A p.R391H Substitution - Missense Central_nervous_system COSM5599590 GABRG1 c.490C>T p.P164S Substitution - Missense Skin COSM1730929 MYST3 c.3481A>G p.I1161V Substitution - Missense Liver COSM2726745 PHF6 c.414C>T p.S138S Substitution - coding silent Upper_aerodigestive_tract COSM132974 ASXL1 c.? p.Q780* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM2726745 PHF6 c.414C>T p.S138S Substitution - coding silent Upper_aerodigestive_tract COSM191438 KDM5C c.2041C>T p.R681* Substitution - Nonsense Kidney COSM1258626 KAT6B c.4858C>A p.P1620T Substitution - Missense Oesophagus COSM4458576 TRRAP c.10813C>T p.L3605F Substitution - Missense Skin COSM1290459 CHD2 c.2105A>G p.K702R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM921723 HELLS c.2408G>A p.R803Q Substitution - Missense Endometrium COSM4415873 RSF1 c.3783T>C p.D1261D Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3951264 ATAD2 c.1741G>C p.D581H Substitution - Missense Lung COSM3927845 TRIM24 c.1690C>A p.Q564K Substitution - Missense Prostate COSM165977 AP001011.3_ENST00000320876 c.1669_1670delAG p.E558fs*10 Deletion - Frameshift Breast COSM26976 ATRX c.4957G>C p.V1653L Substitution - Missense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1262959 PRDM9 c.275A>G p.D92G Substitution - Missense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM431129 ARID2 c.3953_3954insG p.C1319fs*6 Insertion - Frameshift Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1169485 BAP1 c.29G>A p.S10N Substitution - Missense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5575961 DAXX c.1186G>T p.A396S Substitution - Missense Oesophagus COSM4444075 SETD5_ENST00000402198 c.1093G>A p.A365T Substitution - Missense Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM51432 ARID1A c.6472C>T p.R2158* Substitution - Nonsense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1299144 EP400 c.8205G>A p.Q2735Q Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM53215 ASXL1 c.4127_4128insG p.P1377fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4064150 NCOR1 c.5101+2T>C p.? Unknown Stomach COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM1670246 BAP1 c.1550C>T p.T517M Substitution - Missense Bone COSM5784076 PHF1 c.786C>T p.L262L Substitution - coding silent Breast COSM4883219 TFPT c.91C>A p.L31I Substitution - Missense Upper_aerodigestive_tract COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4979360 KDM3A c.3124G>A p.V1042M Substitution - Missense Oesophagus COSM5412401 SCML2 c.1665G>A p.L555L Substitution - coding silent Skin COSM5419414 EPC1 c.988G>A p.D330N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3987082 BAZ2A c.1147A>T p.N383Y Substitution - Missense Kidney COSM149916 BRD8 c.3120+8A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5036814 GABRG1 c.583T>G p.F195V Substitution - Missense Oesophagus COSM87070 TET2 c.434G>A p.S145N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1616599 HDAC10 c.1033A>C p.S345R Substitution - Missense Liver COSM2152834 SMARCA1 c.123C>T p.A41A Substitution - coding silent Central_nervous_system COSM4074064 SMARCA4 c.4231C>T p.R1411W Substitution - Missense Stomach COSM4111264 BRWD3 c.3211C>T p.Q1071* Substitution - Nonsense Stomach COSM322804 PRDM9 c.122C>A p.A41E Substitution - Missense Lung COSM4556396 EP400 c.6903G>A p.K2301K Substitution - coding silent Skin COSM3349815 DAXX c.788G>A p.R263H Substitution - Missense Stomach COSM417841 SETBP1 c.1096G>A p.E366K Substitution - Missense Urinary_tract COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Breast COSM921715 HELLS c.1194C>G p.N398K Substitution - Missense Endometrium COSM24921 HNF1A c.682G>T p.E228* Substitution - Nonsense Liver COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85911 IKZF1 c.161-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM98118 ARID2 c.2710C>T p.Q904* Substitution - Nonsense Upper_aerodigestive_tract COSM87163 TET2 c.4148_4148delG p.R1383fs*65 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM112087 TDG c.286_287insA p.I98fs*6 Insertion - Frameshift Upper_aerodigestive_tract COSM121544 PHF3 c.2274C>T p.G758G Substitution - coding silent Upper_aerodigestive_tract COSM133577 ASXL1 c.2348_2349insT p.D784fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM141156 DAXX c.274C>G p.Q92E Substitution - Missense Upper_aerodigestive_tract COSM139243 PHF8 c.2576C>T p.P859L Substitution - Missense Skin COSM139783 TAF1L c.4900G>A p.E1634K Substitution - Missense Skin COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Soft_tissue COSM41706 TET2 c.4354C>T p.R1452* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM201010 ING1 c.586C>T p.R196* Substitution - Nonsense Endometrium COSM227525 KMT2C c.2294A>G p.E765G Substitution - Missense Skin COSM245714 MLL5 c.1339G>T p.D447Y Substitution - Missense Prostate COSM240083 HDAC9 c.2795C>T p.T932M Substitution - Missense Large_intestine COSM252813 SIRT5 c.4C>T p.R2* Substitution - Nonsense Large_intestine COSM252813 SIRT5 c.4C>T p.R2* Substitution - Nonsense Large_intestine COSM255006 KDM6A c.3397C>T p.Q1133* Substitution - Nonsense Urinary_tract COSM255006 KDM6A c.3397C>T p.Q1133* Substitution - Nonsense Urinary_tract COSM259533 ASXL3 c.1531C>A p.L511M Substitution - Missense Large_intestine COSM283996 PHIP c.5131C>T p.R1711C Substitution - Missense Large_intestine COSM274533 CHD9 c.8119A>C p.N2707H Substitution - Missense Large_intestine COSM298679 GLYR1 c.1606_1607insG p.A536fs*6 Insertion - Frameshift Large_intestine COSM316704 ZMYM4 c.3835A>C p.T1279P Substitution - Missense Lung COSM346896 STK31 c.536T>G p.I179S Substitution - Missense Lung COSM941098 CBX5 c.143A>G p.H48R Substitution - Missense Endometrium COSM1021280 MSH6 c.2722G>T p.E908* Substitution - Nonsense Endometrium COSM746384 STK31 c.860G>A p.G287D Substitution - Missense Lung COSM909992 DMAP1 c.445G>A p.D149N Substitution - Missense Endometrium COSM993841 DOT1L c.3912C>T p.D1304D Substitution - coding silent Endometrium COSM1060900 PHF15 c.1815_1817delACC p.P611delP Deletion - In frame Endometrium COSM1122937 KDM5C c.3546C>A p.S1182S Substitution - coding silent Endometrium COSM1130775 MSH6 c.267C>A p.D89E Substitution - Missense Prostate COSM1240001 RAG2 c.1105A>G p.T369A Substitution - Missense Liver COSM1240077 RNF2 c.900C>T p.G300G Substitution - coding silent Large_intestine COSM1162342 PHC1 c.918A>G p.R306R Substitution - coding silent Oesophagus COSM1188536 MBD6 c.2848C>T p.R950C Substitution - Missense Lung COSM1187551 CHD7 c.4462G>T p.D1488Y Substitution - Missense Lung COSM1603623 JMJD1C c.4415A>G p.N1472S Substitution - Missense Liver COSM1603701 SFMBT2 c.320G>A p.R107H Substitution - Missense Liver COSM1284751 EPC1 c.1627G>T p.E543* Substitution - Nonsense Autonomic_ganglia COSM1316580 PHF21A c.317C>A p.A106D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1334938 HDGF c.149_150insT p.G51fs*63 Insertion - Frameshift Large_intestine COSM1322763 MTA1 c.1193C>T p.T398I Substitution - Missense Ovary COSM1390291 SMARCA4 c.4887T>C p.D1629D Substitution - coding silent Soft_tissue COSM1425793 BRPF1 c.2182C>T p.R728C Substitution - Missense Large_intestine COSM1457750 CHD7 c.7894A>C p.N2632H Substitution - Missense Large_intestine COSM1342906 KDM4A c.1699G>A p.A567T Substitution - Missense Prostate COSM1470863 CHD2 c.820A>G p.K274E Substitution - Missense Prostate COSM1583145 DNMT3A c.2678G>T p.W893L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1582712 KMT2C c.13054T>G p.W4352G Substitution - Missense Stomach COSM1582078 KMT2A c.11546T>G p.I3849S Substitution - Missense Stomach COSM1626239 ATRX c.662G>A p.R221K Substitution - Missense Central_nervous_system COSM1683028 HCFC1 c.5665C>T p.R1889C Substitution - Missense Large_intestine COSM1720632 TAF1L c.1969C>T p.P657S Substitution - Missense Skin COSM1748820 BAZ1A c.1467A>G p.E489E Substitution - coding silent Urinary_tract COSM1742935 CCDC101 c.391C>T p.P131S Substitution - Missense Biliary_tract COSM1724236 PRDM8 c.634_636delCAG p.Q217delQ Deletion - In frame Skin COSM2209152 TDRD10 c.889A>G p.S297G Substitution - Missense Large_intestine COSM3112946 SRCAP c.5235G>A p.T1745T Substitution - coding silent Large_intestine COSM3069638 SMARCC1 c.1804C>T p.R602C Substitution - Missense Prostate COSM3160225 PHF3 c.106G>A p.A36T Substitution - Missense Upper_aerodigestive_tract COSM3283309 BRD4 c.576C>T p.G192G Substitution - coding silent Large_intestine COSM3372728 DNMT3A c.584C>T p.P195L Substitution - Missense Thyroid COSM3415184 SIRT1 c.1209G>A p.P403P Substitution - coding silent Large_intestine COSM3589846 MECOM c.2359G>A p.E787K Substitution - Missense Skin COSM3517982 HDAC5 c.3316G>A p.E1106K Substitution - Missense Skin COSM3729948 MLL5 c.4056delA p.M1354fs*1 Deletion - Frameshift Stomach COSM3722551 KMT2D c.6669G>T p.G2223G Substitution - coding silent Soft_tissue COSM3723036 PHF21B c.744G>A p.S248S Substitution - coding silent Upper_aerodigestive_tract COSM3710753 KDM5A c.1308G>T p.E436D Substitution - Missense Upper_aerodigestive_tract COSM3750412 LMNA c.1698C>T p.H566H Substitution - coding silent Breast COSM3760036 ZCWPW2 c.651G>A p.K217K Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3749370 SETD6 c.193T>C p.L65L Substitution - coding silent Large_intestine COSM3752792 TRIM66 c.1397A>G p.H466R Substitution - Missense Thyroid COSM3805028 ZMYM6 c.1010C>T p.S337L Substitution - Missense Breast COSM3805542 ORC1 c.1690C>G p.Q564E Substitution - Missense Breast COSM3859792 JARID2 c.197A>G p.D66G Substitution - Missense Stomach COSM3920719 L3MBTL3 c.1582C>T p.H528Y Substitution - Missense Skin COSM3879592 KMT2C c.2841T>C p.F947F Substitution - coding silent Stomach COSM3948593 FTO c.974A>T p.E325V Substitution - Missense Ovary COSM3968555 ZMYM2 c.3095A>G p.E1032G Substitution - Missense Central_nervous_system COSM3983289 RAI1 c.5169G>A p.V1723V Substitution - coding silent Ovary COSM4016599 BTAF1 c.1569G>A p.W523* Substitution - Nonsense Stomach COSM4008569 RAD54L c.1471G>A p.E491K Substitution - Missense Stomach COSM4042371 KMT2D c.6894C>T p.P2298P Substitution - coding silent Stomach COSM4110061 KDM5C c.1218T>C p.A406A Substitution - coding silent Stomach COSM4097814 NCOA6 c.828G>A p.Q276Q Substitution - coding silent Stomach COSM4061906 CTCF c.1546A>G p.T516A Substitution - Missense Stomach COSM4383905 TET2 c.3523A>T p.I1175F Substitution - Missense Oesophagus COSM4383937 TET2 c.4108G>A p.G1370R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384338 KMT2C c.4817C>T p.P1606L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4588687 EHMT1 c.2745C>T p.A915A Substitution - coding silent Bone COSM4569080 SFMBT2 c.1509T>A p.V503V Substitution - coding silent Skin COSM4422838 ARID1A c.6263T>A p.L2088H Substitution - Missense Kidney COSM4461061 PHF8 c.1083C>T p.F361F Substitution - coding silent Skin COSM4478677 ATXN7 c.2259C>T p.S753S Substitution - coding silent Skin COSM4680509 EHMT2 c.994G>A p.D332N Substitution - Missense Large_intestine COSM4713915 PHF11 c.122delA p.R43fs*23 Deletion - Frameshift Large_intestine COSM4665049 BAHCC1 c.3327C>T p.C1109C Substitution - coding silent Large_intestine COSM4702400 KMT2A c.10265C>T p.A3422V Substitution - Missense Large_intestine COSM4801578 ZMYND11 c.518A>G p.Y173C Substitution - Missense Liver COSM4844230 PRDM16 c.2068G>A p.G690R Substitution - Missense Cervix COSM4965661 KDM5C c.2509G>A p.E837K Substitution - Missense Pancreas COSM4950298 DNMT1 c.844G>T p.D282Y Substitution - Missense Liver COSM5000374 KMT2A c.10666_10667delAA p.K3556fs*10 Deletion - Frameshift Pancreas COSM4977032 MLL5 c.186G>A p.A62A Substitution - coding silent Oesophagus COSM5004364 MSH6 c.3014G>A p.R1005Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4987506 TET2 c.2861G>T p.W954L Substitution - Missense Soft_tissue COSM5031086 KDM6A c.3337_3342GTATCA>TTGCGGCATCTGTTTCAA p.V1113_S1114>LRHLFQ Complex - insertion inframe Haematopoietic_and_lymphoid_tissue COSM5016758 KDM6A c.1239_1240delTA p.K414fs*4 Deletion - Frameshift Kidney COSM5015538 AP001011.3_ENST00000320876 c.2525A>G p.N842S Substitution - Missense Kidney COSM5176737 EYA4 c.1223G>A p.R408H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5402196 KDM3B c.4896T>C p.V1632V Substitution - coding silent Skin COSM5398293 ZBTB38 c.2811C>T p.V937V Substitution - coding silent Skin COSM5384754 SRCAP c.7559T>C p.L2520P Substitution - Missense Skin COSM5417531 ATRX c.443G>A p.S148N Substitution - Missense Endometrium COSM5642671 PHRF1 c.2123C>G p.A708G Substitution - Missense Oesophagus COSM5753519 JMJD1C c.2539C>T p.Q847* Substitution - Nonsense Large_intestine COSM5611985 GABRG1 c.1388T>A p.L463H Substitution - Missense Adrenal_gland COSM5758406 CHD4 c.2884G>T p.V962L Substitution - Missense Bone COSM5650935 TBL1XR1 c.926-1G>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5607835 ARID1A c.2087C>T p.S696F Substitution - Missense Skin COSM5665256 KDM3B c.5217C>T p.I1739I Substitution - coding silent Soft_tissue COSM5677873 GABRG1 c.331A>G p.I111V Substitution - Missense Soft_tissue COSM5667895 TRIM33 c.120G>T p.A40A Substitution - coding silent Soft_tissue COSM5752327 NCOR1 c.1791_1837del47 p.A599fs*23 Deletion - Frameshift Breast COSM5765451 BRD1 c.2880C>T p.N960N Substitution - coding silent Large_intestine COSM5563251 PHIP c.3940C>T p.Q1314* Substitution - Nonsense Prostate COSM5789221 MBD2 c.543-7C>T p.? Unknown Breast COSM5798151 L3MBTL4 c.1593C>T p.G531G Substitution - coding silent Breast COSM5817567 DPF1 c.467A>G p.E156G Substitution - Missense Liver COSM5933813 GATAD2A c.433C>T p.Q145* Substitution - Nonsense Skin COSM5922961 EP400 c.9250C>T p.P3084S Substitution - Missense Skin COSM5956932 SMC1A c.2561A>T p.K854M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6000980 ZMYM2 c.373A>G p.M125V Substitution - Missense Prostate COSM41895 TET2 c.5643T>G p.H1881Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716802 TET2 c.? p.Q591* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM5757627 PBRM1 c.? p.? Unknown Kidney COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53124 TET2 c.? p.H1904Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1238064 CREBBP c.? p.? Unknown Liver COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM4729928 SRCAP c.1313G>A p.R438Q Substitution - Missense Large_intestine COSM1184919 BRDT c.456G>T p.Q152H Substitution - Missense Large_intestine COSM30391 KDM5C c.1935_1936GG>CT p.E645_E646>D* Complex - compound substitution Kidney COSM5507213 MUM1 c.277C>T p.R93C Substitution - Missense Biliary_tract COSM1246227 BRDT c.879G>A p.W293* Substitution - Nonsense Oesophagus COSM3203687 MECOM c.834T>G p.L278L Substitution - coding silent Upper_aerodigestive_tract COSM5765284 NCOR1 c.2940A>T p.Q980H Substitution - Missense Large_intestine COSM4590139 KAT2A c.1586A>C p.H529P Substitution - Missense Upper_aerodigestive_tract COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM13386 MSH6 c.1526T>C p.V509A Substitution - Missense Urinary_tract COSM86976 IKZF1 c.1-?_40+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41644 TET2 c.1648C>T p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5722439 SETD1A c.1109A>T p.Y370F Substitution - Missense Skin COSM53271 TET2 c.2447_2447delA p.N816fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM87011 DNMT3A c.2141C>G p.S714C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4949634 ARID1A c.271_281>A p.G91fs*7 Complex - frameshift Liver COSM325550 ING2 c.469A>T p.T157S Substitution - Missense Lung COSM1457688 CHD7 c.1068C>T p.N356N Substitution - coding silent Large_intestine COSM3563114 ZMYM3 c.224G>A p.G75E Substitution - Missense Skin COSM230133 KMT2C c.1173C>A p.C391* Substitution - Nonsense Thyroid COSM1080975 PHF3 c.5936G>A p.R1979Q Substitution - Missense Endometrium COSM415071 BMI1 c.329C>G p.S110C Substitution - Missense Urinary_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM3368089 JMJD1C c.3745C>T p.Q1249* Substitution - Nonsense Thyroid COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4559076 PRMT8 c.790G>A p.D264N Substitution - Missense Skin COSM239312 CHD6 c.1546G>A p.A516T Substitution - Missense Prostate COSM1667706 BRDT c.1309C>T p.L437F Substitution - Missense Large_intestine COSM4991230 SMARCA4 c.4857G>A p.G1619G Substitution - coding silent Skin COSM1617900 SFMBT1 c.1958G>A p.G653E Substitution - Missense Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM73729 ARID2 c.3496G>C p.G1166R Substitution - Missense Ovary COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3706557 MGA c.4022A>G p.D1341G Substitution - Missense Liver COSM4104556 TCF20 c.4698A>G p.I1566M Substitution - Missense Stomach COSM1025809 DNMT3B c.1935G>A p.V645V Substitution - coding silent Endometrium COSM300615 MORF4L2 c.255C>T p.N85N Substitution - coding silent Large_intestine COSM4159839 PRDM9 c.2042C>G p.T681S Substitution - Missense Upper_aerodigestive_tract COSM5968785 PRDM2 c.4845A>G p.V1615V Substitution - coding silent Upper_aerodigestive_tract COSM4956575 L3MBTL2 c.2085C>G p.S695S Substitution - coding silent Liver COSM1379106 PRMT7 c.1372C>T p.R458W Substitution - Missense Large_intestine COSM1203594 DIDO1 c.6619C>T p.R2207W Substitution - Missense Large_intestine COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4169834 SCML2 c.277T>A p.L93I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5715994 MORF4L2 c.660C>T p.S220S Substitution - coding silent Skin COSM4919995 APOBEC1 c.247T>C p.S83P Substitution - Missense Liver COSM5791503 PHF12 c.1663A>G p.S555G Substitution - Missense Breast COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4160094 PRDM1 c.501C>G p.D167E Substitution - Missense Soft_tissue COSM4396651 PHC2 c.1931T>G p.L644R Substitution - Missense Skin COSM20511 BRDT c.266C>T p.A89V Substitution - Missense Stomach COSM79348 CREBBP c.4021C>T p.R1341* Substitution - Nonsense Large_intestine COSM1483713 NCOA3 c.3741_3749delGCAGCAGCA p.Q1274_Q1276delQQQ Deletion - In frame Upper_aerodigestive_tract COSM217100 SRCAP c.6297+2T>A p.? Unknown Liver COSM1630066 NCOR1 c.515C>T p.S172L Substitution - Missense Upper_aerodigestive_tract COSM4393539 SIRT2 c.497C>T p.T166M Substitution - Missense Prostate COSM957512 ARID2 c.772_772+20del21 p.? Unknown Lung COSM468038 EP400 c.8229G>A p.Q2743Q Substitution - coding silent Oesophagus COSM346384 TDRD3 c.145T>G p.L49V Substitution - Missense Lung COSM150428 KMT2C c.2958A>G p.P986P Substitution - coding silent Central_nervous_system COSM3755697 AKAP1 c.53C>T p.A18V Substitution - Missense Large_intestine COSM4002744 PBRM1 c.4335A>G p.P1445P Substitution - coding silent Soft_tissue COSM1117703 HCFC1 c.5375G>A p.G1792D Substitution - Missense Endometrium COSM3374561 SMARCD3 c.1234C>T p.R412C Substitution - Missense Thyroid COSM3580213 NCOA1 c.838C>T p.L280L Substitution - coding silent Skin COSM4420027 NSD1 c.3067C>A p.R1023R Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM311731 HDGFL1 c.250A>G p.N84D Substitution - Missense Lung COSM1754520 EYA4 c.1044G>A p.G348G Substitution - coding silent Urinary_tract COSM5508741 KIAA2026_ENST00000399933 c.3405T>C p.H1135H Substitution - coding silent Biliary_tract COSM22662 MEN1 c.536A>T p.E179V Substitution - Missense Liver COSM3750192 PHF2 c.2964G>T p.P988P Substitution - coding silent Lung COSM4685919 FXR1 c.1627_1628delAG p.R543fs*2 Deletion - Frameshift Large_intestine COSM4146785 SETD8 c.362A>G p.K121R Substitution - Missense Large_intestine COSM270899 BPTF c.2744A>T p.H915L Substitution - Missense Large_intestine COSM1716793 TET2 c.? p.G1861fs*26 Frameshift Haematopoietic_and_lymphoid_tissue COSM3998512 PHRF1 c.3894G>A p.P1298P Substitution - coding silent Breast COSM4827334 KDM5A c.445C>G p.L149V Substitution - Missense Cervix COSM3304640 KMT2C c.962G>A p.S321N Substitution - Missense Large_intestine COSM5048807 ZMYM1 c.2824C>T p.Q942* Substitution - Nonsense Oesophagus COSM1699043 ACTL6B c.674C>T p.P225L Substitution - Missense Skin COSM5749583 RAI1 c.4550A>T p.Q1517L Substitution - Missense Genital_tract COSM6008034 BAHD1 c.658G>A p.E220K Substitution - Missense Prostate COSM145369 EP300 c.5368T>G p.C1790G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM206760 ASH1L c.2056G>T p.A686S Substitution - Missense Pancreas COSM1184857 BPTF c.6172C>T p.R2058C Substitution - Missense Skin COSM987410 AP001011.3_ENST00000320876 c.2794G>T p.V932L Substitution - Missense Endometrium COSM1017596 SP140_ENST00000392045 c.576C>A p.F192L Substitution - Missense Endometrium COSM1125471 ATRX c.3070G>T p.E1024* Substitution - Nonsense Endometrium COSM5046503 NCOA2 c.2570G>C p.G857A Substitution - Missense Oesophagus COSM5484019 SETD1A c.1041C>A p.S347S Substitution - coding silent Large_intestine COSM1641366 NCOA3 c.2066T>C p.L689P Substitution - Missense Stomach COSM1226778 SMARCB1 c.1120C>T p.R374W Substitution - Missense Large_intestine COSM5571149 KMT2C c.8852T>G p.V2951G Substitution - Missense Prostate COSM354750 PRDM16 c.1954G>T p.G652C Substitution - Missense Lung COSM5747917 AP001011.3_ENST00000320876 c.3716G>A p.R1239H Substitution - Missense Pancreas COSM51475 ARID1A c.4582C>T p.R1528* Substitution - Nonsense Pancreas COSM1187427 SND1 c.631C>G p.L211V Substitution - Missense Lung COSM293795 TRRAP c.8519G>A p.R2840Q Substitution - Missense Large_intestine COSM1691145 MBD5 c.1205C>T p.P402L Substitution - Missense Skin COSM94807 NCOA2 c.1553G>T p.G518V Substitution - Missense Lung COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM939484 KDM5A c.1268C>T p.P423L Substitution - Missense Oesophagus COSM23050 MEN1 c.1360delA p.K454fs*4 Deletion - Frameshift Parathyroid COSM908323 RBBP4 c.33A>G p.A11A Substitution - coding silent Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3739706 SMARCD1 c.1107G>T p.L369L Substitution - coding silent Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1721289 KMT2C c.14344-3delT p.? Unknown Skin COSM1205885 EYA4 c.1181A>C p.K394T Substitution - Missense Large_intestine COSM1211763 KDM5A c.541G>A p.V181M Substitution - Missense Large_intestine COSM3906849 TAF1L c.1799G>A p.R600Q Substitution - Missense Stomach COSM110767 TET2 c.4113_4120delCACTGCAT p.T1372fs*26 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM339492 NIPBL c.7891G>A p.D2631N Substitution - Missense Lung COSM1113731 MSL3 c.1502A>C p.E501A Substitution - Missense Endometrium COSM2720035 CHD7 c.3080C>T p.T1027I Substitution - Missense Large_intestine COSM97162 PRDM1 c.183G>A p.E62fs Unknown Haematopoietic_and_lymphoid_tissue COSM1356361 KDM2A c.2559delG p.G855fs*24 Deletion - Frameshift Large_intestine COSM1611157 AP001011.3_ENST00000320876 c.2853G>T p.V951V Substitution - coding silent Liver COSM5802816 TDRD1 c.2435G>A p.R812Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4119381 ACTR8 c.221T>G p.V74G Substitution - Missense Stomach COSM97134 PRDM1 c.733_734delGA p.D245fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5823120 ARID1A c.3238C>A p.L1080I Substitution - Missense Liver COSM1228827 TDRD10 c.206G>A p.C69Y Substitution - Missense Large_intestine COSM3283245 BRD4 c.2097G>A p.S699S Substitution - coding silent Stomach COSM3713703 EP300 c.6856C>A p.P2286T Substitution - Missense Upper_aerodigestive_tract COSM1617865 PHF7 c.557A>C p.H186P Substitution - Missense Liver COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM398714 TP53BP1 c.484+1G>A p.? Unknown Lung COSM5019618 DAXX c.1137T>C p.Y379Y Substitution - coding silent Soft_tissue COSM5997098 SHPRH c.3215C>A p.T1072N Substitution - Missense Prostate COSM4993689 MLL5 c.3477_3478insGGGAGCCT p.L1160fs*4 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1677489 EP400 c.3934G>A p.A1312T Substitution - Missense Large_intestine COSM1439361 PRDM13 c.670C>T p.R224W Substitution - Missense Large_intestine COSM3233458 FMR1 c.1054_1055insA p.H355fs*15 Insertion - Frameshift Large_intestine COSM3685136 HDAC9 c.23-2A>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3749716 NCOA3 c.3753G>A p.Q1251Q Substitution - coding silent Large_intestine COSM3637028 HDAC9 c.1276C>T p.P426S Substitution - Missense Skin COSM3700314 BAZ2A c.3868C>T p.P1290S Substitution - Missense Liver COSM144598 KMT2D c.7094G>A p.R2365Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1727281 KMT2C c.9472C>T p.Q3158* Substitution - Nonsense Liver COSM321959 NCOA1 c.2088G>T p.E696D Substitution - Missense Lung COSM4188974 LMNB2 c.205G>T p.V69L Substitution - Missense Kidney COSM4884406 RERE c.3630C>A p.S1210R Substitution - Missense Upper_aerodigestive_tract COSM5575966 TRIM33 c.817C>A p.P273T Substitution - Missense Stomach COSM1617684 SETD2 c.1661A>T p.D554V Substitution - Missense Liver COSM979608 EZH1 c.74G>A p.R25Q Substitution - Missense Large_intestine COSM1710870 CBX8 c.860A>T p.H287L Substitution - Missense Skin COSM1615599 CHD6 c.1975T>C p.F659L Substitution - Missense Liver COSM1327698 FXR1 c.1228_1229insA p.T411fs*4 Insertion - Frameshift Ovary COSM3773106 KDM4B c.195C>T p.D65D Substitution - coding silent Pancreas COSM1631923 HDAC4 c.1603C>A p.L535M Substitution - Missense Liver COSM482562 NSD1 c.295G>A p.D99N Substitution - Missense Kidney COSM4700976 MBD4 c.665A>G p.D222G Substitution - Missense Large_intestine COSM5428787 KDM4D c.46T>G p.C16G Substitution - Missense Oesophagus COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM304654 CHD9 c.175A>C p.T59P Substitution - Missense Large_intestine COSM150424 KMT2C c.5068A>C p.R1690R Substitution - coding silent Soft_tissue COSM1035219 BRD1 c.2911G>A p.V971M Substitution - Missense Endometrium COSM4054556 MGA c.1548T>C p.N516N Substitution - coding silent Stomach COSM694501 SMARCC2 c.3022G>A p.G1008S Substitution - Missense Lung COSM456016 KIAA2026_ENST00000399933 c.4741C>A p.Q1581K Substitution - Missense Breast COSM5518944 ZMYND11 c.1104G>A p.K368K Substitution - coding silent Biliary_tract COSM4666143 BRDT c.2489G>T p.R830I Substitution - Missense Large_intestine COSM5358342 STK31 c.2804T>C p.I935T Substitution - Missense Large_intestine COSM4022249 POGZ c.656C>A p.P219H Substitution - Missense Stomach COSM4851067 PRMT8 c.591C>G p.L197L Substitution - coding silent Cervix COSM988838 MBD1 c.506G>A p.R169K Substitution - Missense Endometrium COSM5016343 TRIM66 c.3046delA p.S1016fs*2 Deletion - Frameshift Kidney COSM939708 HDAC7 c.141+7_141+8insG p.? Unknown Endometrium COSM1047000 PHF7 c.206C>A p.P69H Substitution - Missense Endometrium COSM171629 PHF3 c.2287G>T p.E763* Substitution - Nonsense Endometrium COSM5785189 JMJD1C c.1714C>T p.H572Y Substitution - Missense Breast COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM3792274 KDM2B c.2411C>T p.S804L Substitution - Missense Urinary_tract COSM5885146 ATRX c.5898_5899delTG p.E1967fs*5 Deletion - Frameshift Urinary_tract COSM4434428 MUM1 c.2071A>G p.S691G Substitution - Missense Oesophagus COSM3864839 KDM1A c.979T>A p.L327M Substitution - Missense Skin COSM3906504 SMARCA2 c.392C>A p.P131Q Substitution - Missense Stomach COSM1602714 RERE c.1255A>C p.R419R Substitution - coding silent Liver COSM3064098 BRD1 c.3115G>A p.A1039T Substitution - Missense Large_intestine COSM305319 KDM6A c.618_619+2delAAGT p.? Unknown Soft_tissue COSM85842 MEN1 c.1198C>T p.Q400* Substitution - Nonsense Pancreas COSM267409 SFMBT2 c.2097C>T p.F699F Substitution - coding silent Large_intestine COSM4728267 SMARCA1 c.393G>T p.K131N Substitution - Missense Large_intestine COSM2810334 ASXL3 c.1464G>A p.P488P Substitution - coding silent Bone COSM3581797 CAMKMT c.289C>G p.P97A Substitution - Missense Skin COSM403544 KDM6A c.1999C>T p.Q667* Substitution - Nonsense Lung COSM1220479 PHRF1 c.1265T>C p.L422P Substitution - Missense Large_intestine COSM307768 ASXL1 c.1863_1873del11 p.L622fs*9 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5912799 EYA1 c.1406C>T p.A469V Substitution - Missense Skin COSM753634 TAF1L c.2195G>T p.G732V Substitution - Missense Lung COSM937140 EP400 c.1027G>A p.G343R Substitution - Missense Endometrium COSM1445551 PHF3 c.3402delA p.V1137fs*1 Deletion - Frameshift Large_intestine COSM5742543 SMARCD3 c.938C>G p.P313R Substitution - Missense Small_intestine COSM5635088 YY1 c.239A>C p.H80P Substitution - Missense Oesophagus COSM5058922 MSH6 c.3100C>T p.R1034W Substitution - Missense Stomach COSM1125396 ATRX c.6696A>G p.P2232P Substitution - coding silent Endometrium COSM342914 GATAD2B c.25C>G p.L9V Substitution - Missense Lung COSM5500112 MGA c.8675G>T p.G2892V Substitution - Missense Biliary_tract COSM3597963 SETD5_ENST00000402198 c.949T>C p.F317L Substitution - Missense Skin COSM919489 JMJD1C c.3109G>A p.E1037K Substitution - Missense Endometrium COSM3731914 MTA1 c.1344+5delG p.? Unknown Large_intestine COSM425843 SMYD3 c.301C>T p.Q101* Substitution - Nonsense Breast COSM4613766 NCOA2 c.3059delG p.G1020fs*24 Deletion - Frameshift Large_intestine COSM20426 TRRAP c.6850C>T p.R2284W Substitution - Missense Large_intestine COSM2856511 HDGFL1 c.230C>A p.A77E Substitution - Missense Oesophagus COSM5776232 EP400 c.5071G>A p.A1691T Substitution - Missense Breast COSM1117723 HCFC1 c.3825C>T p.S1275S Substitution - coding silent Endometrium COSM5442489 NCOA6 c.4107G>A p.E1369E Substitution - coding silent Oesophagus COSM4614376 KIAA2026_ENST00000399933 c.2186_2187delAA p.K729fs*15 Deletion - Frameshift Large_intestine COSM1047341 ACTR8 c.1102C>T p.R368* Substitution - Nonsense Endometrium COSM5650812 TDRD1 c.2648T>C p.I883T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53166 TET2 c.? p.H1380Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM76534 SMYD1 c.320C>T p.A107V Substitution - Missense Ovary COSM5635199 BAP1 c.1196_1197insG p.D399fs*2 Insertion - Frameshift Oesophagus COSM1109476 KIAA2026_ENST00000399933 c.1720C>T p.R574C Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM6001378 BAZ1A c.3449G>A p.R1150H Substitution - Missense Prostate COSM3976012 PRDM2 c.121C>G p.R41G Substitution - Missense Lung COSM4769879 INOC1 c.450C>G p.L150L Substitution - coding silent Biliary_tract COSM3421031 CHD9 c.2782C>T p.R928C Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM966718 CHD2 c.4112A>C p.N1371T Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3717730 KDM6B c.2069T>G p.I690S Substitution - Missense Liver COSM1302961 CBX1 c.116T>C p.L39P Substitution - Missense Urinary_tract COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM302137 EP400 c.8181A>G p.Q2727Q Substitution - coding silent Liver COSM5885593 PRDM9 c.2356A>C p.R786R Substitution - coding silent Urinary_tract COSM1724681 TRRAP c.8347delA p.E2785fs*29 Deletion - Frameshift Skin COSM729199 MECOM c.2145G>T p.R715S Substitution - Missense Lung COSM4113816 HDAC11 c.343C>T p.R115W Substitution - Missense Stomach COSM3707005 SRCAP c.598A>G p.K200E Substitution - Missense Liver COSM1599757 TAF1 c.1616G>A p.R539Q Substitution - Missense Endometrium COSM1107879 SMARCA2 c.4165G>A p.A1389T Substitution - Missense Endometrium COSM1492018 SMYD3 c.83G>A p.C28Y Substitution - Missense Kidney COSM79289 SP110 c.1777A>T p.K593* Substitution - Nonsense Ovary COSM919613 SIRT1 c.1260A>G p.E420E Substitution - coding silent Endometrium COSM1161219 KDM6B c.117C>T p.S39S Substitution - coding silent Stomach COSM3578868 SP110 c.449C>T p.S150L Substitution - Missense Skin COSM124462 MLLT10 c.1873G>T p.A625S Substitution - Missense Upper_aerodigestive_tract COSM1463730 PHF2 c.1353G>A p.P451P Substitution - coding silent Large_intestine COSM249373 BAP1 c.1573_1580delTCCCACAT p.S525fs*9 Deletion - Frameshift Kidney COSM300602 GATAD2A c.83delA p.K29fs*16 Deletion - Frameshift Large_intestine COSM5611423 BAP1 c.659+1G>T p.? Unknown Pleura COSM3883716 TRRAP c.4009A>G p.T1337A Substitution - Missense Stomach COSM2856280 KDM1B c.1519G>A p.E507K Substitution - Missense Large_intestine COSM1128393 RNF17 c.1949+2T>A p.? Unknown Prostate COSM13840 ATRX c.3523A>G p.K1175E Substitution - Missense Breast COSM2810356 ASXL3 c.1739delA p.V583fs*59 Deletion - Frameshift Large_intestine COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM30359 KMT2D c.7556G>A p.R2519Q Substitution - Missense Oesophagus COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM51424 ARID1A c.1029_1043del15 p.A344_A348del Deletion - In frame Liver COSM80691 TRRAP c.7782C>T p.S2594S Substitution - coding silent Ovary COSM87123 TET2 c.3604A>T p.R1202* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM96395 ASXL1 c.2525_2525delA p.N842fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM130430 DNMT3A c.2095G>A p.G699S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM166411 CREBBP c.3836+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM195651 JMJD6 c.1136C>T p.T379M Substitution - Missense Large_intestine COSM212452 CDYL2 c.82C>T p.R28* Substitution - Nonsense Breast COSM225109 TAF1 c.2527C>T p.R843W Substitution - Missense Endometrium COSM230154 EYA1 c.580G>A p.G194R Substitution - Missense Skin COSM247469 AP001011.3_ENST00000320876 c.1580C>T p.T527M Substitution - Missense Stomach COSM245704 KMT2A c.6222C>T p.C2074C Substitution - coding silent Skin COSM239306 CHD1 c.3978+1G>T p.? Unknown Prostate COSM253697 CHD6 c.63C>A p.S21S Substitution - coding silent Urinary_tract COSM263763 SMARCA4 c.4200C>T p.I1400I Substitution - coding silent Large_intestine COSM265343 KDM4A c.328C>T p.R110C Substitution - Missense Large_intestine COSM283998 PHIP c.2390G>A p.R797H Substitution - Missense Stomach COSM351400 BRPF3 c.2857G>C p.D953H Substitution - Missense Lung COSM365863 EYA4 c.48_49CA>TT p.C16>? Complex Lung COSM371779 SRCAP c.8623A>G p.R2875G Substitution - Missense Lung COSM386326 MGMT c.246G>T p.P82P Substitution - coding silent Lung COSM380215 EYA1 c.204A>T p.A68A Substitution - coding silent Lung COSM446859 SFMBT1 c.1538C>A p.S513* Substitution - Nonsense Breast COSM465843 JMJD1C c.5497C>T p.L1833L Substitution - coding silent Kidney COSM463111 ASH1L c.505G>T p.G169* Substitution - Nonsense Kidney COSM564788 SMARCA4 c.1141C>T p.R381* Substitution - Nonsense Large_intestine COSM918652 ERCC6 c.3863G>A p.R1288Q Substitution - Missense Endometrium COSM936099 SETD1B c.1997T>G p.L666R Substitution - Missense Endometrium COSM707226 ZBTB4 c.2500G>T p.G834W Substitution - Missense Lung COSM902723 RBBP5 c.1012G>T p.E338* Substitution - Nonsense Endometrium COSM908297 HDAC1 c.767C>T p.A256V Substitution - Missense Endometrium COSM1066260 NSD1 c.4603C>T p.R1535C Substitution - Missense Endometrium COSM1114783 SMARCA1 c.2475T>C p.A825A Substitution - coding silent Endometrium COSM1128086 TRDMT1 c.267T>G p.G89G Substitution - coding silent Prostate COSM1123035 SMC1A c.1756C>T p.R586W Substitution - Missense Endometrium COSM1083689 MLL5 c.4162G>A p.E1388K Substitution - Missense Endometrium COSM1080963 PHF3 c.4582G>T p.D1528Y Substitution - Missense Endometrium COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1169599 PBRM1 c.4177_4181delATGAG p.M1393fs*4 Deletion - Frameshift Kidney COSM1205873 EYA1 c.247T>A p.S83T Substitution - Missense Large_intestine COSM1262059 PHF21A c.1851C>T p.S617S Substitution - coding silent Oesophagus COSM1266206 SMARCA1 c.2213A>T p.Q738L Substitution - Missense Oesophagus COSM1179848 KDM6A c.3111G>A p.Q1037Q Substitution - coding silent Soft_tissue COSM1186457 TBL1XR1 c.337G>T p.A113S Substitution - Missense Lung COSM1289714 EP400 c.8181_8182insCAG p.Q2748_T2749insQ Insertion - In frame Large_intestine COSM1327504 DIDO1 c.400G>C p.E134Q Substitution - Missense Ovary COSM1378317 CHD9 c.3348G>T p.K1116N Substitution - Missense Large_intestine COSM1387285 BAHCC1 c.2657delC p.H888fs*86 Deletion - Frameshift Large_intestine COSM1433329 BRD8 c.532delC p.R178fs*6 Deletion - Frameshift Large_intestine COSM1416495 EP300 c.5862C>T p.H1954H Substitution - coding silent Large_intestine COSM1436269 NSD1 c.4569C>T p.P1523P Substitution - coding silent Large_intestine COSM1543412 PRDM9 c.782G>A p.W261* Substitution - Nonsense Skin COSM1479429 SUZ12 c.1585C>G p.L529V Substitution - Missense Breast COSM1611528 SMARCA4 c.3574C>G p.R1192G Substitution - Missense Liver COSM1616519 TCF20 c.4557G>T p.V1519V Substitution - coding silent Liver COSM1623353 TRRAP c.3620A>T p.K1207M Substitution - Missense Liver COSM1673699 KMT2C c.11708C>T p.S3903F Substitution - Missense Large_intestine COSM1670853 WHSC1 c.2564C>A p.P855H Substitution - Missense Large_intestine COSM1704638 KMT2A c.7111C>T p.H2371Y Substitution - Missense Skin COSM1710947 L3MBTL4 c.1171C>T p.R391C Substitution - Missense Skin COSM42037 TET2 c.4210C>T p.R1404* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM2059750 PCGF6 c.388C>G p.P130A Substitution - Missense Large_intestine COSM2210741 ASH1L c.1554G>A p.K518K Substitution - coding silent Skin COSM2874917 EYA1 c.886C>T p.R296C Substitution - Missense Stomach COSM2874953 EYA1 c.492C>T p.L164L Substitution - coding silent Skin COSM3171675 NCOA7 c.679C>T p.R227* Substitution - Nonsense Large_intestine COSM3296180 MBD5 c.2415T>C p.N805N Substitution - coding silent Upper_aerodigestive_tract COSM3296271 EPC2 c.1000_1002delAAG p.K336delK Deletion - In frame Stomach COSM3355856 KMT2D c.3608C>G p.S1203C Substitution - Missense Breast COSM3355892 VPS72 c.118-5C>T p.? Unknown Breast COSM3371126 DNMT1 c.4027G>A p.V1343M Substitution - Missense Thyroid COSM3386463 CHD8 c.2652G>A p.M884I Substitution - Missense Pancreas COSM3373404 SMARCA5 c.2352A>G p.L784L Substitution - coding silent Thyroid COSM3391615 HDAC4 c.2896G>A p.G966S Substitution - Missense Pancreas COSM3419832 METTL21D c.674C>T p.S225L Substitution - Missense Large_intestine COSM3464337 CHD4 c.5447T>C p.M1816T Substitution - Missense Skin COSM3637538 STK31 c.1004C>T p.A335V Substitution - Missense Skin COSM3514555 NCOR1 c.5460C>T p.A1820A Substitution - coding silent Skin COSM3661775 PRDM9 c.2565A>T p.T855T Substitution - coding silent Liver COSM3655409 BRD3 c.1827C>T p.S609S Substitution - coding silent Skin COSM3693703 DIDO1 c.1224C>T p.P408P Substitution - coding silent Large_intestine COSM3725925 KMT2A c.545G>T p.G182V Substitution - Missense Lung COSM3735020 SMARCA4 c.3676C>T p.Q1226* Substitution - Nonsense Ovary COSM3767906 CLOCK c.645T>A p.F215L Substitution - Missense Liver COSM3791779 MEN1 c.923C>T p.S308L Substitution - Missense Urinary_tract COSM3859968 ARID1B c.1958C>T p.A653V Substitution - Missense Skin COSM3837132 BAZ2B c.2192C>G p.S731C Substitution - Missense Breast COSM3847519 PHF19 c.1605C>G p.L535L Substitution - coding silent Breast COSM3962693 DNMT3A c.2667G>T p.L889L Substitution - coding silent Lung COSM3968403 CHD4 c.2366A>G p.N789S Substitution - Missense Central_nervous_system COSM4043676 BAZ2A c.2321G>A p.R774Q Substitution - Missense Stomach COSM4042365 KMT2D c.8485C>T p.R2829C Substitution - Missense Stomach COSM3984311 LMNA c.1638A>C p.S546S Substitution - coding silent Kidney COSM4002191 EP300 c.3348G>A p.Q1116Q Substitution - coding silent Large_intestine COSM4002303 PHF16 c.246A>C p.V82V Substitution - coding silent Stomach COSM4093195 NCOA1 c.962G>A p.G321D Substitution - Missense Stomach COSM4141126 MSH6 c.2775A>T p.G925G Substitution - coding silent Ovary COSM4164140 PHF2 c.2940C>T p.S980S Substitution - coding silent Thyroid COSM4185838 TTF2 c.2205_2209delATTGG p.L736fs*1 Deletion - Frameshift Kidney COSM4402800 TRRAP c.5538C>T p.F1846F Substitution - coding silent Skin COSM4405409 INOC1 c.4537C>T p.P1513S Substitution - Missense Skin COSM4409233 NCOA6 c.4171C>T p.P1391S Substitution - Missense Oesophagus COSM4603241 KDM6B c.761_762insACCACC p.P264_L265insPP Insertion - In frame Upper_aerodigestive_tract COSM4591258 PHF3 c.236G>T p.C79F Substitution - Missense Upper_aerodigestive_tract COSM4468904 PRMT7 c.156C>T p.I52I Substitution - coding silent Skin COSM4449716 SUV39H2 c.670-1G>A p.? Unknown Skin COSM4695853 KIAA2026_ENST00000399933 c.3295delA p.I1099fs*13 Deletion - Frameshift Large_intestine COSM4766086 TET2 c.3996_3997insA p.M1333fs*6 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4777421 SIRT6 c.448C>T p.R150* Substitution - Nonsense Breast COSM4617131 POGZ c.2248C>T p.R750W Substitution - Missense Large_intestine COSM4774860 EP300 c.5109C>T p.H1703H Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4751669 GTF3C1 c.1353G>C p.E451D Substitution - Missense Stomach COSM4803638 KMT2A c.4111C>T p.Q1371* Substitution - Nonsense Liver COSM4778417 SRCAP c.2649C>G p.A883A Substitution - coding silent Liver COSM4888524 SHPRH c.1195G>A p.A399T Substitution - Missense Upper_aerodigestive_tract COSM4919770 UHRF2 c.1527A>G p.G509G Substitution - coding silent Liver COSM4924542 HCFC2 c.1105A>G p.T369A Substitution - Missense Liver COSM4933727 MLL5 c.2518C>T p.Q840* Substitution - Nonsense Liver COSM4834679 HCFC2 c.1170G>C p.L390F Substitution - Missense Cervix COSM4834096 SIRT4 c.623C>T p.S208L Substitution - Missense Cervix COSM5002785 DNMT3A c.321_322insT p.G108fs*16 Insertion - Frameshift Pancreas COSM4977007 HDAC4 c.2842C>G p.L948V Substitution - Missense Oesophagus COSM4987204 NSD1 c.1840G>T p.V614L Substitution - Missense Soft_tissue COSM4986330 SETD1A c.2278C>T p.P760S Substitution - Missense Soft_tissue COSM5028728 DIDO1 c.3307T>A p.W1103R Substitution - Missense Breast COSM5015260 UBR7 c.875A>G p.K292R Substitution - Missense Kidney COSM5009341 EP300 c.260C>A p.S87Y Substitution - Missense Large_intestine COSM5051626 KMT2D c.15143_15146delTATT p.L5048fs*14 Deletion - Frameshift Stomach COSM5046903 SMARCB1 c.712G>A p.A238T Substitution - Missense Liver COSM5517594 CAMKMT c.968G>C p.G323A Substitution - Missense Biliary_tract COSM5503249 BAZ1B c.3345C>T p.P1115P Substitution - coding silent Biliary_tract COSM5479713 KMT2C c.675G>A p.W225* Substitution - Nonsense Large_intestine COSM5435273 BMI1 c.382G>A p.D128N Substitution - Missense Oesophagus COSM5448040 SFMBT2 c.876C>T p.H292H Substitution - coding silent Large_intestine COSM5438788 SMARCA1 c.844G>T p.E282* Substitution - Nonsense Oesophagus COSM5459758 CHD4 c.2219C>G p.S740C Substitution - Missense Large_intestine COSM5421615 ING3 c.455C>G p.T152S Substitution - Missense Prostate COSM5769948 SIRT3 c.24C>T p.A8A Substitution - coding silent Breast COSM5732886 HDAC9 c.1450C>A p.Q484K Substitution - Missense Pancreas COSM5716293 ATAD2 c.3457C>T p.P1153S Substitution - Missense Skin COSM5599757 KDM3A c.1219C>T p.P407S Substitution - Missense Skin COSM5599907 MBD5 c.2762C>T p.S921F Substitution - Missense Skin COSM5713848 CTCF c.1798A>T p.R600* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5777496 SETD5_ENST00000402198 c.2798G>A p.R933K Substitution - Missense Breast COSM5785981 KMT2A c.4642C>T p.Q1548* Substitution - Nonsense Breast COSM5797946 ZBTB38 c.1623C>T p.I541I Substitution - coding silent Breast COSM5944877 DNMT3A c.2679G>T p.W893C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5910191 LMNA c.937-3C>T p.? Unknown Skin COSM6007388 MLL5 c.2036C>A p.P679Q Substitution - Missense Prostate COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4972323 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM120500 DNMT3A c.? p.E599* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5885195 ASXL1 c.? p.E100K Substitution - Missense Large_intestine COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM21481 HNF1A c.872_873insC p.G292fs*25 Insertion - Frameshift Liver COSM3203619 MECOM c.1500T>G p.A500A Substitution - coding silent Upper_aerodigestive_tract COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM5639577 EP400 c.8688C>T p.T2896T Substitution - coding silent Oesophagus COSM21481 HNF1A c.872_873insC p.G292fs*25 Insertion - Frameshift Liver COSM1692495 ZCWPW2 c.814G>A p.E272K Substitution - Missense Skin COSM1289408 SFMBT2 c.2247G>T p.S749S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4674646 CREBBP c.4327C>T p.R1443C Substitution - Missense Large_intestine COSM3711479 CHD8 c.6248C>T p.S2083F Substitution - Missense Upper_aerodigestive_tract COSM4949777 BRD1 c.1969G>C p.D657H Substitution - Missense Liver COSM3818896 NCOR1 c.358C>T p.Q120* Substitution - Nonsense Breast COSM5893923 KDM6B c.2579C>T p.S860F Substitution - Missense Skin COSM5706358 PCGF2 c.630C>G p.D210E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4746989 NIPBL c.2246delA p.N751fs*43 Deletion - Frameshift Stomach COSM5562858 TRIM33 c.2129C>T p.P710L Substitution - Missense Prostate COSM1302627 SUZ12 c.1811C>G p.S604C Substitution - Missense Urinary_tract COSM4924396 TAF1L c.3146G>C p.R1049P Substitution - Missense Liver COSM4440695 TBL1XR1 c.1261G>C p.D421H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM398440 ATF7IP c.3672G>T p.L1224F Substitution - Missense Lung COSM5347122 ARID1A c.355G>T p.E119* Substitution - Nonsense Endometrium COSM5417017 PHC2 c.1758+2T>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM348184 TDRD1 c.601G>A p.A201T Substitution - Missense Lung COSM3733523 NCOR1 c.14G>T p.G5V Substitution - Missense Pancreas COSM1739652 JMJD1C c.6106A>G p.M2036V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3861744 BAG6 c.2185G>A p.G729R Substitution - Missense Stomach COSM4881766 GTF3C4 c.136G>T p.A46S Substitution - Missense Upper_aerodigestive_tract COSM4635097 PHF17 c.2160G>A p.K720K Substitution - coding silent Large_intestine COSM1684353 KDM2B c.1703_1705delAGA p.K571delK Deletion - In frame Ovary COSM3473725 TDRKH c.113G>A p.R38K Substitution - Missense Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Skin COSM1131329 SETD5_ENST00000402198 c.734G>A p.G245D Substitution - Missense Prostate COSM3869164 PRDM11 c.524T>G p.I175S Substitution - Missense Skin COSM1123034 SMC1A c.1904G>A p.R635H Substitution - Missense Endometrium COSM4605707 NCOR1 c.6319G>T p.A2107S Substitution - Missense Upper_aerodigestive_tract COSM285644 TDRD7 c.3122G>A p.R1041Q Substitution - Missense Large_intestine COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4849646 TTF2 c.397C>G p.Q133E Substitution - Missense Cervix COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM147495 KMT2D c.11700A>G p.P3900P Substitution - coding silent Soft_tissue COSM388318 ZMYM3 c.386G>T p.G129V Substitution - Missense Lung COSM4674641 CREBBP c.6548C>T p.A2183V Substitution - Missense Large_intestine COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM5025093 KDM6A c.1847_1850delCTCT p.T616fs*8 Deletion - Frameshift Breast COSM1050506 PRDM5 c.736G>A p.A246T Substitution - Missense Endometrium COSM266939 KMT2D c.2615C>A p.A872D Substitution - Missense Large_intestine COSM4208059 KMT2D c.8479G>T p.E2827* Substitution - Nonsense Oesophagus COSM1679602 NCOR1 c.5096C>T p.S1699F Substitution - Missense Large_intestine COSM4842117 PRDM2 c.3328C>G p.L1110V Substitution - Missense Cervix COSM3670194 CREBBP c.5383T>C p.C1795R Substitution - Missense Central_nervous_system COSM226632 CHD7 c.6529G>A p.E2177K Substitution - Missense Skin COSM3359509 HCFC2 c.452A>C p.D151A Substitution - Missense Kidney COSM1560994 RNF134 c.83_84insGCCTCC p.P28_V29insPP Insertion - In frame Large_intestine COSM1472698 TDRD10 c.786C>T p.H262H Substitution - coding silent Cervix COSM306075 PHF6 c.374+1G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3563111 ZMYM3 c.1932G>A p.E644E Substitution - coding silent Skin COSM720802 NCOA1 c.1054C>T p.P352S Substitution - Missense Lung COSM554851 INOC1 c.1051G>T p.E351* Substitution - Nonsense Skin COSM5690519 DNMT3A c.760G>C p.A254P Substitution - Missense Soft_tissue COSM4748493 MUM1 c.121G>A p.V41M Substitution - Missense Stomach COSM3985812 BTAF1 c.4545A>T p.K1515N Substitution - Missense Kidney COSM4007325 ZMYM6 c.3562T>G p.F1188V Substitution - Missense Stomach COSM3547382 NCOA3 c.3467G>A p.R1156Q Substitution - Missense Skin COSM2161493 SFMBT2 c.364G>A p.D122N Substitution - Missense Upper_aerodigestive_tract COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4967084 BRD8 c.2429A>T p.Q810L Substitution - Missense Central_nervous_system COSM2808701 AP001011.3_ENST00000320876 c.5728C>T p.Q1910* Substitution - Nonsense Upper_aerodigestive_tract COSM5469188 EPC2 c.2348C>A p.A783E Substitution - Missense Large_intestine COSM1121569 KDM6A c.389C>A p.A130D Substitution - Missense Endometrium COSM5417540 IDH2 c.118G>T p.A40S Substitution - Missense Endometrium COSM4384164 MLL5 c.5162C>T p.P1721L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1605435 ACTR6 c.515+8G>T p.? Unknown Liver COSM170542 SMARCA5 c.500G>A p.R167Q Substitution - Missense Endometrium COSM336758 PRDM5 c.1040C>T p.P347L Substitution - Missense Lung COSM24925 HNF1A c.747_764del18 p.Q250_G255delQAQGLG Deletion - In frame Liver COSM3492901 RERE c.3768G>T p.L1256L Substitution - coding silent Skin COSM5961759 DOT1L c.877G>A p.V293M Substitution - Missense Adrenal_gland COSM5476916 HDAC6 c.3484C>T p.L1162F Substitution - Missense Large_intestine COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1437280 NIPBL c.4484T>C p.L1495S Substitution - Missense Large_intestine COSM2874534 PRDM14 c.594G>A p.T198T Substitution - coding silent Skin COSM5010152 EP300 c.3882A>G p.P1294P Substitution - coding silent Large_intestine COSM910658 ORC1 c.943C>T p.R315C Substitution - Missense Endometrium COSM5989910 TET2 c.5681C>G p.P1894R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4099079 ZMYND8 c.1503G>A p.T501T Substitution - coding silent Stomach COSM2820655 AIRE c.1466delC p.S491fs*30 Deletion - Frameshift Large_intestine COSM141350 KDM4D c.1451C>T p.S484L Substitution - Missense Upper_aerodigestive_tract COSM1318827 ADNP c.2146A>C p.K716Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3555052 TCF20 c.3104C>T p.P1035L Substitution - Missense Skin COSM3712657 ASXL3 c.1439C>T p.S480F Substitution - Missense Upper_aerodigestive_tract COSM217375 PHF10 c.353_354insT p.K118fs*6 Insertion - Frameshift Liver COSM2002818 ATF7IP c.438C>T p.S146S Substitution - coding silent Bone COSM1683380 NCOA7 c.2453_2454insA p.T819fs*22 Insertion - Frameshift Central_nervous_system COSM1372813 MGA c.844_846delAAT p.N283delN Deletion - In frame Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1970725 HELLS c.955C>T p.R319W Substitution - Missense Stomach COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4002761 SFMBT1 c.999C>A p.F333L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1162121 TRRAP c.9006G>A p.M3002I Substitution - Missense Kidney COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2894225 ATF2 c.561G>A p.Q187Q Substitution - coding silent Upper_aerodigestive_tract COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3537363 KDM4B c.1698C>T p.S566S Substitution - coding silent Skin COSM39390 TDRD5 c.2774G>A p.R925H Substitution - Missense Ovary COSM5967293 KDM6A c.2671_2672insAT p.P891fs*8 Insertion - Frameshift Salivary_gland COSM5405450 TDRD6 c.1521G>A p.R507R Substitution - coding silent Skin COSM314847 RNF17 c.597delT p.F201fs*23 Deletion - Frameshift Large_intestine COSM1315521 KDM6A c.3879-1G>A p.? Unknown Urinary_tract COSM1226771 SMARCA5 c.1279A>G p.I427V Substitution - Missense Large_intestine COSM5600534 SMYD1 c.290G>A p.G97E Substitution - Missense Skin COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM5639827 PRDM13 c.863A>C p.Y288S Substitution - Missense Oesophagus COSM5019618 DAXX c.1137T>C p.Y379Y Substitution - coding silent Soft_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4944814 MBD2 c.811C>A p.P271T Substitution - Missense Liver COSM5015519 BPTF c.5930C>T p.T1977I Substitution - Missense Kidney COSM5737716 PRDM1 c.1304C>A p.P435H Substitution - Missense Small_intestine COSM708183 AP001011.3_ENST00000320876 c.2201C>T p.P734L Substitution - Missense Lung COSM120176 TET2 c.3813C>G p.C1271W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1021289 MSH6 c.2927G>A p.R976H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87186 TET2 c.5645_5646delCC p.A1882fs*9 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4170407 KMT2D c.11974C>T p.Q3992* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4070290 KDM6B c.3718G>A p.E1240K Substitution - Missense Stomach COSM5941851 SETD5_ENST00000402198 c.3593C>T p.S1198F Substitution - Missense Skin COSM3928575 PHF3 c.5153T>C p.V1718A Substitution - Missense Central_nervous_system COSM5719952 SETD5_ENST00000402198 c.1306G>A p.G436R Substitution - Missense Skin COSM992154 BRD4 c.576C>A p.G192G Substitution - coding silent Endometrium COSM4959325 HDAC4 c.285G>A p.R95R Substitution - coding silent Liver COSM1034595 L3MBTL2 c.1985C>T p.S662L Substitution - Missense Endometrium COSM100082 KMT2C c.8390_8390delA p.K2797fs*26 Deletion - Frameshift Large_intestine COSM3430901 PHIP c.1226G>A p.R409H Substitution - Missense Large_intestine COSM370639 BRWD3 c.238G>T p.G80C Substitution - Missense Lung COSM5981362 SETBP1 c.1037C>T p.T346I Substitution - Missense Upper_aerodigestive_tract COSM4416426 BRD9 c.955G>A p.D319N Substitution - Missense Oesophagus COSM929718 MTA2 c.1442G>A p.R481Q Substitution - Missense Endometrium COSM4789026 PRDM1 c.1928G>A p.R643H Substitution - Missense Liver COSM3660042 UTY c.1525C>A p.P509T Substitution - Missense Liver COSM328978 KMT2C c.8390delA p.K2797fs*26 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM138434 CLOCK c.1714C>T p.P572S Substitution - Missense Skin COSM4140235 SMARCA4 c.3358G>A p.G1120S Substitution - Missense Ovary COSM420251 TET2 c.1397C>G p.S466C Substitution - Missense Urinary_tract COSM3433093 TAF1L c.2518C>T p.R840W Substitution - Missense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2739029 NCOR1 c.2465_2466delTG p.V822fs*3 Deletion - Frameshift Large_intestine COSM4107971 HCFC1 c.3645C>T p.S1215S Substitution - coding silent Stomach COSM1669083 PCGF1 c.355G>T p.G119C Substitution - Missense Large_intestine COSM5019155 CREBBP c.5454G>A p.V1818V Substitution - coding silent Soft_tissue COSM2030170 CHD8 c.1158A>C p.P386P Substitution - coding silent Large_intestine COSM483420 EYA4 c.1700C>T p.A567V Substitution - Missense Kidney COSM683493 RNF134 c.597G>C p.K199N Substitution - Missense Lung COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4155386 ING3 c.312T>A p.F104L Substitution - Missense Kidney COSM4382803 AICDA c.526C>T p.L176F Substitution - Missense Large_intestine COSM3964371 TCF20 c.4781G>T p.R1594M Substitution - Missense Lung COSM1587025 ZMYM2 c.1765C>T p.R589* Substitution - Nonsense Endometrium COSM108860 EP400 c.5321C>T p.P1774L Substitution - Missense Skin COSM1285773 KIAA2026_ENST00000399933 c.163G>T p.D55Y Substitution - Missense Autonomic_ganglia COSM1632152 KDM3A c.1439G>T p.R480L Substitution - Missense Liver COSM5133198 BAHCC1 c.1357C>T p.R453W Substitution - Missense Large_intestine COSM42084 TET2 c.1924C>T p.Q642* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5600714 TP53BP1 c.3266C>T p.P1089L Substitution - Missense Skin COSM4605332 KMT2D c.3344G>A p.R1115Q Substitution - Missense Upper_aerodigestive_tract COSM5752622 CREBBP c.2461C>T p.Q821* Substitution - Nonsense Breast COSM2098817 ING4 c.317G>A p.R106H Substitution - Missense Large_intestine COSM3861871 EHMT2 c.2061G>A p.T687T Substitution - coding silent Stomach COSM4702533 MLL5 c.4475A>C p.Q1492P Substitution - Missense Large_intestine COSM4163938 KIAA2026_ENST00000399933 c.2087T>C p.L696S Substitution - Missense Thyroid COSM5708962 TET2 c.3458C>A p.A1153E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4856760 NSD1 c.1957G>A p.E653K Substitution - Missense Cervix COSM3741229 PHC2 c.938C>T p.T313M Substitution - Missense Liver COSM4120577 SETD5_ENST00000402198 c.925C>T p.Q309* Substitution - Nonsense Stomach COSM464992 RERE c.2958A>C p.P986P Substitution - coding silent Skin COSM4169526 TET2 c.? p.P1552T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3033659 MECP2 c.1137C>T p.P379P Substitution - coding silent Skin COSM4383607 DNMT3A c.853G>T p.E285* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5778696 PRDM4 c.2279C>T p.S760L Substitution - Missense Breast COSM4981576 SND1 c.62delG p.G22fs*69 Deletion - Frameshift Oesophagus COSM283993 PHF3 c.5187G>T p.Q1729H Substitution - Missense Large_intestine COSM372327 TAF1L c.1840G>T p.A614S Substitution - Missense Lung COSM218281 SFMBT2 c.962C>T p.S321L Substitution - Missense Pancreas COSM1025813 DNMT3B c.2417A>G p.E806G Substitution - Missense Endometrium COSM3973940 ATRX c.787T>C p.W263R Substitution - Missense Central_nervous_system COSM265862 SUV420H1 c.1850G>A p.G617E Substitution - Missense Large_intestine COSM1093731 TRRAP c.11074C>T p.L3692L Substitution - coding silent Endometrium COSM3489646 SCMH1 c.401C>T p.P134L Substitution - Missense Skin COSM4720050 RAI1 c.1564G>A p.E522K Substitution - Missense Oesophagus COSM2098674 CHD4 c.564C>A p.L188L Substitution - coding silent Urinary_tract COSM5724186 RTF1 c.632C>T p.S211L Substitution - Missense Skin COSM4382096 ATRX c.4557+1G>A p.? Unknown Large_intestine COSM5015853 ARID1A c.4186delG p.Q1397fs*84 Deletion - Frameshift Kidney COSM3457189 KDM2B c.596C>T p.P199L Substitution - Missense Skin COSM231560 DNMT3A c.2206C>T p.R736C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4108015 MECP2 c.1373G>A p.R458H Substitution - Missense Stomach COSM1705719 CBX5 c.123G>A p.W41* Substitution - Nonsense Skin COSM5442496 BAZ2B c.2195-5T>G p.? Unknown Oesophagus COSM267409 SFMBT2 c.2097C>T p.F699F Substitution - coding silent Skin COSM4482928 CHD7 c.2655C>T p.D885D Substitution - coding silent Skin COSM1323213 MGA c.9283_9305del23 p.L3095fs*>13 Deletion - Frameshift Ovary COSM266762 KIAA1045 c.261C>T p.G87G Substitution - coding silent Urinary_tract COSM4099093 NCOA3 c.1135A>G p.N379D Substitution - Missense Stomach COSM475057 KDM4B c.161G>T p.W54L Substitution - Missense Kidney COSM4129016 MYST1 c.1056A>G p.P352P Substitution - coding silent Thyroid COSM166529 DNMT3A c.1769delG p.G590fs*61 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5661575 SMEK2 c.1943A>G p.E648G Substitution - Missense Soft_tissue COSM1045437 SETD2 c.4721G>A p.R1574Q Substitution - Missense Central_nervous_system COSM3789850 EYA3 c.188C>A p.S63* Substitution - Nonsense Urinary_tract COSM37029 EZH2 c.1937A>C p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5019273 PRDM1 c.2034G>A p.P678P Substitution - coding silent Soft_tissue COSM97131 IDH1 c.532G>A p.V178I Substitution - Missense Thyroid COSM1495589 PBRM1 c.3394G>T p.E1132* Substitution - Nonsense Liver COSM51438 ARID1A c.3970_3971insA p.Y1324fs*1 Insertion - Frameshift Ovary COSM3656845 TAF1L c.3271C>T p.L1091L Substitution - coding silent Skin COSM3971606 MBD5 c.2275G>A p.V759M Substitution - Missense Central_nervous_system COSM1609409 CHD9 c.1845A>G p.I615M Substitution - Missense Liver COSM41649 TET2 c.4075C>T p.R1359C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4136368 TAF1 c.3076A>C p.I1026L Substitution - Missense Ovary COSM1614651 NCOA1 c.771G>A p.T257T Substitution - coding silent Liver COSM264225 TRRAP c.8422C>T p.R2808* Substitution - Nonsense Large_intestine COSM1692702 SETD2 c.4775C>T p.P1592L Substitution - Missense Skin COSM2917606 MYST1 c.612G>T p.Q204H Substitution - Missense Large_intestine COSM5982030 KMT2D c.? p.P1940L Substitution - Missense Pancreas COSM88749 CREBBP c.4336C>T p.R1446C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5817140 ATF2 c.336C>T p.S112S Substitution - coding silent Liver COSM1490968 KDM6A c.1547_1548insA p.Q517fs*9 Insertion - Frameshift Breast COSM3977549 ARID1A c.6718G>A p.A2240T Substitution - Missense Lung COSM4569536 RERE c.1822T>C p.S608P Substitution - Missense Large_intestine COSM4072471 CXXC1 c.1291G>A p.E431K Substitution - Missense Stomach COSM2911501 NCOA1 c.4164A>G p.Q1388Q Substitution - coding silent Upper_aerodigestive_tract COSM5451829 BRD9 c.1369C>A p.L457M Substitution - Missense Large_intestine COSM3756522 GATAD2A c.267G>A p.S89S Substitution - coding silent Thyroid COSM5921885 TCF20 c.293C>T p.P98L Substitution - Missense Skin COSM4915037 PHF2 c.863C>G p.S288C Substitution - Missense Liver COSM677961 RBBP5 c.927C>T p.I309I Substitution - coding silent Lung COSM5952118 CARM1 c.915G>A p.E305E Substitution - coding silent Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM357179 SUV39H2 c.691G>A p.E231K Substitution - Missense Lung COSM1087659 KMT2C c.947C>G p.T316S Substitution - Missense Prostate COSM52819 PBRM1 c.3639delA p.E1214fs*4 Deletion - Frameshift Kidney COSM1212948 L3MBTL3 c.1987G>A p.V663I Substitution - Missense Large_intestine COSM5996703 ARID1B c.3456G>A p.G1152G Substitution - coding silent Prostate COSM1754577 SHPRH c.1978G>C p.E660Q Substitution - Missense Urinary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM110714 ASXL1 c.3379G>A p.D1127N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3764424 KMT2D c.14375G>A p.C4792Y Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1449480 KMT2C c.1041C>T p.C347C Substitution - coding silent Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4777318 PRDM11 c.601A>T p.N201Y Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5916509 CTCF c.38C>T p.S13F Substitution - Missense Skin COSM438016 AP001011.3_ENST00000320876 c.1436G>A p.R479Q Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3361792 BRD7 c.1534T>C p.S512P Substitution - Missense Kidney COSM3429362 PRDM9 c.999C>T p.F333F Substitution - coding silent Skin COSM3739523 ATF7IP c.489G>C p.E163D Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3717730 KDM6B c.2069T>G p.I690S Substitution - Missense Liver COSM2182760 SETDB1 c.2844delC p.P950fs*16 Deletion - Frameshift Large_intestine COSM5608363 EP300 c.2293C>T p.L765F Substitution - Missense Skin COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1742843 BAZ2A_ENST00000379441 c.3598A>G p.M1200V Substitution - Missense Biliary_tract COSM1608123 SETD3 c.1469G>T p.R490L Substitution - Missense Liver COSM1625905 KDM6A c.4005+2T>G p.? Unknown Liver COSM255445 CHD6 c.1640A>C p.Q547P Substitution - Missense Central_nervous_system COSM5830820 ATAD2 c.833_834insTGA p.D277_E278insD Insertion - In frame Large_intestine COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM4581532 TRIM28 c.1020G>A p.K340K Substitution - coding silent Bone COSM990745 SMARCA4 c.2322C>T p.N774N Substitution - coding silent Endometrium COSM3563107 ZMYM3 c.2437C>T p.P813S Substitution - Missense Skin COSM312119 KDM4D c.640G>T p.V214L Substitution - Missense Lung COSM4768617 KMT2C c.1038G>A p.V346V Substitution - coding silent Thyroid COSM1245454 ARID2 c.1624C>T p.R542* Substitution - Nonsense Skin COSM3957747 PRMT7 c.1569G>T p.E523D Substitution - Missense Lung COSM4848398 CHD6 c.6637G>A p.G2213R Substitution - Missense Cervix COSM5508160 CHD2 c.3595+6C>T p.? Unknown Biliary_tract COSM3358583 KMT2C c.14345_14346delGG p.G4782fs*10 Deletion - Frameshift Kidney COSM3888409 SRCAP c.2206C>T p.R736C Substitution - Missense Large_intestine COSM1314711 SMARCA2 c.1627C>T p.L543L Substitution - coding silent Urinary_tract COSM939980 KMT2D c.14686G>A p.A4896T Substitution - Missense Liver COSM5907565 KDM4D c.239C>A p.S80Y Substitution - Missense Skin COSM1226765 SMARCA4 c.3500C>T p.S1167L Substitution - Missense Large_intestine COSM132968 ASXL1 c.? p.E635fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM5801260 SMARCC2 c.138_140delCAA p.N46delN Deletion - In frame Breast COSM985398 CBX2 c.270C>T p.S90S Substitution - coding silent Endometrium COSM21300 TRRAP c.7323C>T p.F2441F Substitution - coding silent Skin COSM990 SMARCB1 c.778C>T p.Q260* Substitution - Nonsense Soft_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM24917 HNF1A c.526C>T p.Q176* Substitution - Nonsense Liver COSM23046 MEN1 c.161_162insG p.I54fs*63 Insertion - Frameshift Parathyroid COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM36205 ASXL1 c.3306G>T p.E1102D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85921 TET2 c.?_?delA p.?fs*? Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Pancreas COSM88485 KMT2C c.6851C>A p.S2284* Substitution - Nonsense Ovary COSM86960 IDH2 c.512G>A p.G171D Substitution - Missense Skin COSM133041 EZH2 c.449T>C p.I150T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144517 TET2 c.2020C>T p.Q674* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM147485 ARID2 c.285T>C p.R95R Substitution - coding silent Stomach COSM185219 MYST1 c.292C>T p.R98W Substitution - Missense Stomach COSM183823 NCOA1 c.4212C>T p.G1404G Substitution - coding silent Large_intestine COSM219271 CHD6 c.2037G>A p.M679I Substitution - Missense Breast COSM216049 KMT2C c.12796_12797insA p.S4267fs*48 Insertion - Frameshift Central_nervous_system COSM254906 PRMT5 c.955C>G p.L319V Substitution - Missense Urinary_tract COSM41850 TET2 c.1630C>T p.R544* Substitution - Nonsense Endometrium COSM41850 TET2 c.1630C>T p.R544* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM253697 CHD6 c.63C>A p.S21S Substitution - coding silent Urinary_tract COSM310827 EHMT1 c.2015G>A p.G672E Substitution - Missense Lung COSM312112 KDM4A c.1303G>A p.A435T Substitution - Missense Lung COSM386838 BPTF c.8633G>T p.R2878L Substitution - Missense Endometrium COSM1497337 ZMYM3 c.2960A>G p.N987S Substitution - Missense Kidney COSM1497043 UHRF2 c.154-2A>T p.? Unknown Kidney COSM478239 EYA2 c.722C>T p.P241L Substitution - Missense Kidney COSM988950 MBD2 c.1201A>C p.M401L Substitution - Missense Endometrium COSM988384 SETBP1 c.3006C>T p.D1002D Substitution - coding silent Endometrium COSM484287 PHF3 c.5801G>T p.R1934L Substitution - Missense Kidney COSM557988 CREBBP c.3206G>A p.G1069D Substitution - Missense Skin COSM915012 TDRD1 c.806C>T p.T269M Substitution - Missense Stomach COSM692220 EP400 c.8434C>T p.Q2812* Substitution - Nonsense Lung COSM685486 SFMBT2 c.2571T>A p.L857L Substitution - coding silent Lung COSM943591 APOBEC1 c.637T>G p.C213G Substitution - Missense Endometrium COSM940032 KMT2D c.8176G>A p.D2726N Substitution - Missense Endometrium COSM937513 ATF7IP c.3292C>T p.R1098* Substitution - Nonsense Large_intestine COSM907726 ARID1A c.4336C>T p.R1446* Substitution - Nonsense Oesophagus COSM895006 PRDM2 c.1415T>G p.V472G Substitution - Missense Endometrium COSM1067691 NIPBL c.5240C>T p.T1747I Substitution - Missense Endometrium COSM1109535 UHRF2 c.2403A>G p.G801G Substitution - coding silent Endometrium COSM1108238 TAF1L c.2303G>A p.R768H Substitution - Missense Endometrium COSM1121692 PHF16 c.925G>T p.A309S Substitution - Missense Endometrium COSM1123038 SMC1A c.1107G>T p.E369D Substitution - Missense Endometrium COSM1093744 TRRAP c.11403C>T p.G3801G Substitution - coding silent Endometrium COSM1180830 CTCF c.603_604insA p.T204fs*26 Insertion - Frameshift Stomach COSM1262939 PRDM10 c.1613A>G p.K538R Substitution - Missense Stomach COSM1236191 ZMYM4 c.1633G>A p.E545K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1176937 KDM4D c.355G>A p.E119K Substitution - Missense Endometrium COSM1309968 WHSC1 c.2672A>G p.Y891C Substitution - Missense Urinary_tract COSM1290324 ALKBH1 c.649G>T p.G217W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1426205 TET2 c.1040C>T p.A347V Substitution - Missense Large_intestine COSM1416492 EP300 c.5485C>T p.R1829C Substitution - Missense Large_intestine COSM1449800 HDAC9 c.213G>A p.Q71Q Substitution - coding silent Large_intestine COSM1441791 JARID2 c.1265_1266insG p.R425fs*99 Insertion - Frameshift Large_intestine COSM1344943 MTF2 c.1181delA p.G397fs*6 Deletion - Frameshift Large_intestine COSM1364342 APOBEC1 c.207delA p.K69fs*12 Deletion - Frameshift Large_intestine COSM1341697 PRDM16 c.219C>T p.Y73Y Substitution - coding silent Large_intestine COSM1524019 SMARCA4 c.2457G>A p.A819A Substitution - coding silent Stomach COSM1612161 DPF1 c.614C>T p.A205V Substitution - Missense Liver COSM1682620 KDM5C c.2761C>G p.L921V Substitution - Missense Breast COSM1667866 TTF2 c.1987C>T p.R663W Substitution - Missense Stomach COSM1687292 EYA3 c.139C>T p.L47F Substitution - Missense Skin COSM1687531 SCMH1 c.241G>A p.G81R Substitution - Missense Skin COSM1681834 DIDO1 c.1834A>G p.R612G Substitution - Missense Large_intestine COSM1720119 PRDM8 c.197G>A p.R66K Substitution - Missense Skin COSM1716991 TAF1L c.2782T>A p.F928I Substitution - Missense Ovary COSM1732203 KDM5C c.351+1G>A p.? Unknown Kidney COSM1724208 PHC2 c.2040C>T p.F680F Substitution - coding silent Skin COSM1740615 NCOA6 c.458T>G p.M153R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2044763 PHC1 c.1066A>T p.T356S Substitution - Missense Large_intestine COSM2747562 DOT1L c.2190G>A p.S730S Substitution - coding silent Large_intestine COSM2828731 SETD5_ENST00000402198 c.267A>T p.V89V Substitution - coding silent Pancreas COSM2874542 PRDM14 c.438T>C p.P146P Substitution - coding silent Large_intestine COSM2889610 DNMT3B c.2019C>T p.F673F Substitution - coding silent Skin COSM2909424 ATAD2B_ENST00000238789 c.629G>A p.R210Q Substitution - Missense Large_intestine COSM3153140 EP300 c.3621G>A p.E1207E Substitution - coding silent Upper_aerodigestive_tract COSM3371954 HDAC10 c.975G>A p.P325P Substitution - coding silent Thyroid COSM3398546 EP400 c.6221T>A p.I2074N Substitution - Missense Central_nervous_system COSM3501006 INOC1 c.2501C>T p.S834F Substitution - Missense Skin COSM3463362 SMARCC2 c.3438C>T p.N1146N Substitution - coding silent Skin COSM3453550 RSF1 c.3158C>T p.S1053F Substitution - Missense Skin COSM3615185 PRDM9 c.95C>T p.S32F Substitution - Missense Skin COSM3615203 PRDM9 c.893G>A p.G298E Substitution - Missense Skin COSM3628097 CDYL c.177C>T p.P59P Substitution - coding silent Skin COSM3597969 SETD5_ENST00000402198 c.2097C>A p.T699T Substitution - coding silent Skin COSM3563501 ATRX c.4459G>A p.D1487N Substitution - Missense Skin COSM3695806 MBD4 c.150G>T p.E50D Substitution - Missense Large_intestine COSM3708296 L3MBTL2 c.894G>T p.M298I Substitution - Missense Liver COSM3735043 TET2 c.3409+1G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3722551 KMT2D c.6669G>T p.G2223G Substitution - coding silent Soft_tissue COSM3726306 BAHCC1 c.7487G>T p.G2496V Substitution - Missense Lung COSM3744614 TP53BP1 c.4541A>C p.K1514T Substitution - Missense Liver COSM3764890 ADNP c.1086A>G p.Q362Q Substitution - coding silent Central_nervous_system COSM3769723 SET c.492+2T>A p.? Unknown Soft_tissue COSM3774046 ZBTB38 c.898C>G p.P300A Substitution - Missense Kidney COSM3804820 ARID1A c.4532G>A p.R1511K Substitution - Missense Breast COSM3867907 TAF3 c.1506C>T p.P502P Substitution - coding silent Skin COSM3931579 EP400 c.732C>T p.A244A Substitution - coding silent Urinary_tract COSM3900871 CHD7 c.5034C>T p.A1678A Substitution - coding silent Stomach COSM4025612 TDRD5 c.1077A>G p.G359G Substitution - coding silent Stomach COSM4018294 KMT2A c.2656C>T p.R886W Substitution - Missense Stomach COSM4004714 TRIM33 c.1028A>C p.Q343P Substitution - Missense Ovary COSM4049839 CHD8 c.6115C>T p.Q2039* Substitution - Nonsense Stomach COSM4001871 ASXL1 c.3931G>A p.A1311T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3994563 HDAC2 c.1248T>G p.A416A Substitution - coding silent Kidney COSM4000812 UHRF1 c.66C>T p.D22D Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4000037 SMYD4 c.706G>T p.G236C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4113237 RUVBL1 c.355G>A p.A119T Substitution - Missense Stomach COSM4161255 TDRD6 c.599T>G p.V200G Substitution - Missense Upper_aerodigestive_tract COSM4170039 TET2 c.5127T>A p.C1709* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4185742 PBRM1 c.4357C>T p.Q1453* Substitution - Nonsense Kidney COSM4383519 DNMT3A c.2657A>G p.Q886R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4383582 DNMT3A c.1165G>A p.D389N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4558271 SFMBT2 c.760G>A p.D254N Substitution - Missense Skin COSM4539173 HDAC9 c.2656G>A p.G886R Substitution - Missense Skin COSM4489418 BRD8 c.3471C>T p.L1157L Substitution - coding silent Skin COSM4432792 KMT2C c.9897G>T p.M3299I Substitution - Missense Oesophagus COSM4554584 TDRD6 c.6259G>A p.E2087K Substitution - Missense Skin COSM4472373 MUM1 c.177C>T p.I59I Substitution - coding silent Skin COSM4717869 PRMT10 c.236C>T p.A79V Substitution - Missense Large_intestine COSM4717439 PRDM1 c.2174C>T p.A725V Substitution - Missense Large_intestine COSM4681099 EP400 c.1190A>C p.Q397P Substitution - Missense Large_intestine COSM4694055 MYST3 c.3807_3808insCCA p.E1269_V1270insP Insertion - In frame Large_intestine COSM4680507 EHMT2 c.1170delG p.S391fs*79 Deletion - Frameshift Large_intestine COSM4631072 ARID1B c.6344C>T p.A2115V Substitution - Missense Large_intestine COSM4610123 PRDM14 c.544C>T p.P182S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4796874 SCML2 c.1305G>A p.Q435Q Substitution - coding silent Liver COSM4943010 SETD2 c.3079T>A p.S1027T Substitution - Missense Liver COSM4916666 HNF1A c.326+2T>A p.? Unknown Liver COSM4852713 EZH1 c.1905G>A p.K635K Substitution - coding silent Cervix COSM4818071 EP300 c.842C>G p.S281* Substitution - Nonsense Cervix COSM4951382 KDM4C c.743C>G p.S248C Substitution - Missense Liver COSM4988061 KMT2D c.8737G>C p.A2913P Substitution - Missense Soft_tissue COSM5015662 DNMT3B c.338G>C p.S113T Substitution - Missense Kidney COSM5364570 SMCHD1 c.494C>T p.A165V Substitution - Missense Prostate COSM5385796 RAI1 c.597C>T p.S199S Substitution - coding silent Skin COSM5352761 RERE c.3797C>T p.S1266L Substitution - Missense Large_intestine COSM5436078 MORF4L2 c.671G>A p.G224E Substitution - Missense Oesophagus COSM5615537 NIPBL c.824C>T p.P275L Substitution - Missense Lung COSM5621403 NSD1 c.508C>A p.P170T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5671394 PRDM9 c.1546G>T p.V516L Substitution - Missense Soft_tissue COSM5675902 ACTA1 c.1101C>T p.A367A Substitution - coding silent Soft_tissue COSM5553760 SFMBT2 c.2303A>G p.E768G Substitution - Missense Prostate COSM5563537 SIRT2 c.876G>T p.Q292H Substitution - Missense Prostate COSM5792500 ADNP c.2406C>G p.S802S Substitution - coding silent Breast COSM5807765 TRIM28 c.1230A>T p.A410A Substitution - coding silent Liver COSM5951116 KMT2D c.14759A>G p.Q4920R Substitution - Missense Oesophagus COSM5887824 PBRM1 c.2314C>T p.P772S Substitution - Missense Upper_aerodigestive_tract COSM6001452 YY1 c.54C>T p.A18A Substitution - coding silent Prostate COSM4169564 MSH6 c.? p.G430R Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96542 CREBBP c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM914345 ASXL1 c.? p.G642* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4590343 SETBP1 c.3806A>G p.D1269G Substitution - Missense Upper_aerodigestive_tract COSM2818184 BRWD1 c.3671C>T p.A1224V Substitution - Missense Large_intestine COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM3727849 TRIM66 c.1888C>G p.L630V Substitution - Missense Upper_aerodigestive_tract COSM326139 PHF2 c.3161G>A p.R1054Q Substitution - Missense Large_intestine COSM310696 DOT1L c.1999G>T p.D667Y Substitution - Missense Lung COSM1615122 PCGF1 c.419T>G p.F140C Substitution - Missense Liver COSM1581765 SMEK1 c.505T>A p.Y169N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5590645 DNMT1 c.2299C>T p.P767S Substitution - Missense Skin COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM1665985 SMARCC2 c.1770+1G>A p.? Unknown Kidney COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM2740167 RAI1 c.483C>T p.G161G Substitution - coding silent Large_intestine COSM5423214 TRRAP c.4292T>C p.L1431P Substitution - Missense Prostate COSM4695024 KDM5C c.2113C>T p.R705C Substitution - Missense Large_intestine COSM253080 PYGO1 c.50-3delT p.? Unknown Pancreas COSM5347046 ARID1A c.4150C>T p.H1384Y Substitution - Missense Endometrium COSM3839031 ATAD2B_ENST00000238789 c.1321G>T p.G441C Substitution - Missense Breast COSM4542415 CREBBP c.3183G>A p.E1061E Substitution - coding silent Skin COSM429983 EED c.619C>T p.L207L Substitution - coding silent Soft_tissue COSM1577233 MEN1 c.936C>G p.Y312* Substitution - Nonsense Parathyroid COSM727601 RUVBL1 c.51C>T p.S17S Substitution - coding silent Lung COSM260288 CREBBP c.321G>A p.P107P Substitution - coding silent Large_intestine COSM4439312 BAHCC1 c.2732C>A p.S911Y Substitution - Missense Oesophagus COSM4843593 ATRX c.471C>T p.L157L Substitution - coding silent Cervix COSM3666009 KMT2A c.7676T>A p.I2559N Substitution - Missense Liver COSM3629179 PHF3 c.2982T>A p.N994K Substitution - Missense Skin COSM2948444 KAT2B c.1016G>A p.R339Q Substitution - Missense Large_intestine COSM4826166 MYST1 c.868G>C p.E290Q Substitution - Missense Cervix COSM1408306 MSH6 c.2625G>T p.M875I Substitution - Missense Large_intestine COSM1486630 NSD1 c.2503G>T p.G835C Substitution - Missense Breast COSM3460999 KDM5A c.1027G>A p.E343K Substitution - Missense Skin COSM5983719 BAZ2A c.3018G>A p.Q1006Q Substitution - coding silent Upper_aerodigestive_tract COSM937507 ATF7IP c.2407G>T p.G803W Substitution - Missense Endometrium COSM4576318 PYGO2 c.376C>T p.P126S Substitution - Missense Bone COSM730711 SETD2 c.3365G>A p.R1122H Substitution - Missense Lung COSM3738486 TET2 c.? p.I873fs*28 Frameshift Haematopoietic_and_lymphoid_tissue COSM364856 BRWD3 c.3568A>T p.T1190S Substitution - Missense Lung COSM41296 IDH2 c.? p.R172W Substitution - Missense Central_nervous_system COSM4384592 KMT2A c.4291delA p.R1431fs*13 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1472590 SETDB1 c.3176G>A p.R1059Q Substitution - Missense Breast COSM4423034 ARID2 c.1715G>T p.R572I Substitution - Missense Central_nervous_system COSM4072465 MBD1 c.392+2T>C p.? Unknown Stomach COSM1179107 KMT2C c.851G>A p.R284Q Substitution - Missense Soft_tissue COSM3725339 SP110 c.335G>A p.W112* Substitution - Nonsense Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1568287 PHF3 c.5687G>A p.R1896H Substitution - Missense Large_intestine COSM929417 PHRF1 c.4470C>T p.C1490C Substitution - coding silent Endometrium COSM4803863 RUVBL1 c.193G>T p.A65S Substitution - Missense Liver COSM221099 KMT2D c.8829_8830insT p.E2944fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM470606 RTF1 c.723G>A p.R241R Substitution - coding silent Kidney COSM455527 GTF3C4 c.1612G>A p.D538N Substitution - Missense Breast COSM1626991 ARID1A c.5762delC p.L1922fs*1 Deletion - Frameshift Liver COSM2961645 MYST3 c.5910T>A p.P1970P Substitution - coding silent Upper_aerodigestive_tract COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5717478 TAF1L c.1462C>T p.P488S Substitution - Missense Skin COSM1184481 BAZ2A_ENST00000379441 c.4475G>T p.R1492M Substitution - Missense Large_intestine COSM4973677 EP300 c.6004C>T p.Q2002* Substitution - Nonsense Oesophagus COSM4649442 TAF1 c.1820T>C p.M607T Substitution - Missense Large_intestine COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3466206 AICDA c.300G>A p.G100G Substitution - coding silent Skin COSM87001 DNMT3A c.2644C>A p.R882S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5372043 PRDM10 c.1034G>A p.R345K Substitution - Missense Skin COSM4668971 CAMKMT c.791G>A p.R264Q Substitution - Missense Large_intestine COSM4436710 PHRF1 c.4363C>T p.P1455S Substitution - Missense Oesophagus COSM1682739 ATRX c.6938T>G p.L2313W Substitution - Missense Large_intestine COSM3427481 KAT2B c.2035G>A p.A679T Substitution - Missense Large_intestine COSM945400 ING1 c.512G>A p.G171D Substitution - Missense Endometrium COSM4591233 NCOR1 c.534G>C p.K178N Substitution - Missense Large_intestine COSM4916292 PRDM15 c.3158+2T>G p.? Unknown Liver COSM1184395 BAHCC1 c.5051G>A p.R1684H Substitution - Missense Thyroid COSM5944224 DNMT3A c.1896delG p.K632fs*19 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5777096 TAF3 c.2387C>T p.P796L Substitution - Missense Breast COSM3724475 ARID1A c.1650_1650delC p.Y551fs*68 Deletion - Frameshift Large_intestine COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5044490 KDM6A c.3218G>A p.R1073K Substitution - Missense Kidney COSM4429890 PRDM16 c.2535G>A p.A845A Substitution - coding silent Oesophagus COSM1713476 CHD6 c.3295C>T p.R1099W Substitution - Missense Skin COSM1215200 KMT2D c.4088G>A p.G1363D Substitution - Missense Large_intestine COSM4623767 RERE c.3220G>A p.A1074T Substitution - Missense Large_intestine COSM3735048 TET2 c.5203_5213del11 p.G1735fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3785261 HDAC1 c.1372+9G>A p.? Unknown Pancreas COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1178582 KAT5 c.1245C>G p.G415G Substitution - coding silent Prostate COSM1077971 RING1 c.1017C>T p.A339A Substitution - coding silent Endometrium COSM1367549 TDRD3 c.1896G>A p.Q632Q Substitution - coding silent Large_intestine COSM3377112 EYA3 c.586-3C>T p.? Unknown Pancreas COSM3895356 HAT1 c.158C>T p.P53L Substitution - Missense Skin COSM1333881 SETDB1 c.214G>T p.E72* Substitution - Nonsense Large_intestine COSM3380610 DHX30 c.2723G>A p.R908Q Substitution - Missense Pancreas COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM257995 SETD3 c.808C>A p.L270M Substitution - Missense Large_intestine COSM5584508 ASXL3 c.2650G>A p.E884K Substitution - Missense Skin COSM738847 CHD1 c.995G>C p.W332S Substitution - Missense Lung COSM118603 PHF2 c.2610C>T p.F870F Substitution - coding silent Ovary COSM4116589 KAT2B c.1365C>T p.N455N Substitution - coding silent Stomach COSM1390279 SMARCA4 c.3834A>G p.P1278P Substitution - coding silent Large_intestine COSM1675366 KAT6B c.4470G>T p.K1490N Substitution - Missense Large_intestine COSM3752752 RSF1 c.1628C>T p.S543F Substitution - Missense Large_intestine COSM97187 ASXL1 c.? p.S895del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM1709972 NCOR1 c.6433G>A p.E2145K Substitution - Missense Skin COSM3812565 SMARCC2 c.917C>T p.S306L Substitution - Missense Breast COSM3406570 TAF1 c.3120A>C p.G1040G Substitution - coding silent Central_nervous_system COSM6005349 SUV39H1 c.1162C>T p.L388F Substitution - Missense Prostate COSM5663491 L3MBTL3 c.1407G>T p.V469V Substitution - coding silent Soft_tissue COSM3636487 KMT2C c.8457C>T p.T2819T Substitution - coding silent Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM36166 ASXL1 c.1772_1773insA p.Y591fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3720336 EZH2 c.1885T>C p.W629R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3770183 SETMAR c.936_941CATCAG>CTCA p.I313fs*5 Complex - frameshift Soft_tissue COSM419703 TBL1XR1 c.1127G>T p.W376L Substitution - Missense Urinary_tract COSM5923935 PRDM11 c.1037C>T p.S346L Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3805349 KDM4A c.2182G>C p.E728Q Substitution - Missense Breast COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM416679 METTL21D c.105C>T p.S35S Substitution - coding silent Urinary_tract COSM252979 CLOCK c.368delT p.L123fs*1 Deletion - Frameshift Liver COSM6018346 MSL3 c.367G>A p.E123K Substitution - Missense Skin COSM1051390 SETD7 c.959G>A p.R320H Substitution - Missense Endometrium COSM5713821 KMT2A c.374A>C p.N125T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1317975 CHD4 c.2924G>A p.R975H Substitution - Missense Endometrium COSM4508181 CARM1 c.767C>T p.S256L Substitution - Missense Skin COSM1351665 KMT2A c.10067C>T p.A3356V Substitution - Missense Stomach COSM1660059 EP300 c.1138A>G p.T380A Substitution - Missense Kidney COSM144497 IDH2 c.? p.R172T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM240276 JARID2 c.1164A>C p.K388N Substitution - Missense Prostate COSM4398012 PHF17 c.1012C>T p.H338Y Substitution - Missense Skin COSM254575 BTAF1 c.1486C>T p.L496F Substitution - Missense Oesophagus COSM4603912 EP300 c.2313_2314insT p.S772fs*27 Insertion - Frameshift Upper_aerodigestive_tract COSM1349253 TAF3 c.1895_1896delAG p.K635fs*6 Deletion - Frameshift Large_intestine COSM5985333 KMT2D c.11716G>T p.G3906* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM139836 SIRT1 c.1891G>A p.E631K Substitution - Missense Skin COSM254575 BTAF1 c.1486C>T p.L496F Substitution - Missense Urinary_tract COSM3759230 TCF20 c.5055G>A p.S1685S Substitution - coding silent Large_intestine COSM264006 TET2 c.2344G>T p.E782* Substitution - Nonsense Large_intestine COSM4816548 AP001011.3_ENST00000320876 c.560G>C p.R187T Substitution - Missense Cervix COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM468450 KMT2D c.3532A>T p.S1178C Substitution - Missense Kidney COSM1180929 SMARCB1 c.1085_1087delAGA p.K364delK Deletion - In frame Large_intestine COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4474880 SMARCA4 c.194C>T p.P65L Substitution - Missense Skin COSM745587 HDAC9 c.2823G>T p.K941N Substitution - Missense Lung COSM34192 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM3807282 ERCC6 c.1610G>A p.G537D Substitution - Missense Breast COSM1449005 EZH2 c.804T>C p.N268N Substitution - coding silent Large_intestine COSM4104949 BRD1 c.99C>T p.Y33Y Substitution - coding silent Stomach COSM5752196 KMT2C c.761delG p.R254fs*7 Deletion - Frameshift Breast COSM972472 CTCF c.538C>T p.Q180* Substitution - Nonsense Endometrium COSM575243 CAMKMT c.632G>A p.R211Q Substitution - Missense Biliary_tract COSM5718813 NCOA3 c.217A>G p.K73E Substitution - Missense Skin COSM4423479 ATRX c.594+1G>A p.? Unknown Central_nervous_system COSM3358461 SETD2 c.612_627del16 p.S205fs*54 Deletion - Frameshift Kidney COSM4954173 KMT2C c.12888A>C p.P4296P Substitution - coding silent Liver COSM5561491 SRCAP c.3799C>G p.P1267A Substitution - Missense Prostate COSM3237307 KDM3B c.1878C>A p.P626P Substitution - coding silent Large_intestine COSM4557665 BPTF c.7010G>C p.G2337A Substitution - Missense Skin COSM4411435 CBX7 c.214_216AGA>G p.R72fs*43 Complex - frameshift Kidney COSM1216522 MYST2 c.398C>T p.A133V Substitution - Missense Large_intestine COSM955453 BAZ1A c.4438C>A p.R1480S Substitution - Missense Endometrium COSM376262 PRDM7 c.444C>A p.T148T Substitution - coding silent Lung COSM4460192 ING1 c.727C>T p.L243F Substitution - Missense Skin COSM1315227 PHF6 c.137+2G>A p.? Unknown Urinary_tract COSM3956106 ARID4A c.1621G>T p.D541Y Substitution - Missense Lung COSM1197810 TAF1L c.5254G>C p.V1752L Substitution - Missense Lung COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM431529 BAZ2A c.5474G>A p.R1825Q Substitution - Missense Breast COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5588624 PHF7 c.582C>T p.A194A Substitution - coding silent Skin COSM6016651 EZH1 c.994C>T p.P332S Substitution - Missense Skin COSM4852844 TAF1L c.1887C>G p.I629M Substitution - Missense Cervix COSM3636471 KMT2C c.11658C>T p.T3886T Substitution - coding silent Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM255012 KDM6A c.3582G>A p.W1194* Substitution - Nonsense Urinary_tract COSM3384416 KMT2D c.3313-1G>T p.? Unknown Pancreas COSM4763007 ASH1L c.3502C>T p.P1168S Substitution - Missense Stomach COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1220376 PHF21B c.907C>T p.R303W Substitution - Missense Large_intestine COSM4574086 KMT2A c.10135A>G p.S3379G Substitution - Missense Bone COSM4603233 DIDO1 c.4878_4879insC p.A1627fs*53 Insertion - Frameshift Upper_aerodigestive_tract COSM5704133 DPF2 c.976G>A p.E326K Substitution - Missense Liver COSM5700296 PRDM2 c.2146C>T p.P716S Substitution - Missense Soft_tissue COSM5064714 SUV39H1 c.603C>T p.H201H Substitution - coding silent Stomach COSM920525 KAT6B c.1786C>T p.R596W Substitution - Missense Breast COSM970548 CREBBP c.6281C>T p.P2094L Substitution - Missense Endometrium COSM4384752 KMT2D c.2653G>A p.E885K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1646576 ZMYM2 c.792G>T p.M264I Substitution - Missense Lung COSM1079913 TDRD6 c.5305C>T p.R1769C Substitution - Missense Endometrium COSM4757355 BAZ1B c.693G>T p.K231N Substitution - Missense Stomach COSM5622965 TDRD6 c.5520T>C p.S1840S Substitution - coding silent Oesophagus COSM1169606 TET2 c.? p.A912fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM1449330 SMARCD3 c.412A>G p.M138V Substitution - Missense Large_intestine COSM50955 EP400 c.5142G>A p.L1714L Substitution - coding silent Breast COSM1583398 SETDB1 c.2604A>T p.E868D Substitution - Missense Endometrium COSM3453557 RSF1 c.1743C>T p.I581I Substitution - coding silent Skin COSM1312875 KMT2C c.5140G>C p.D1714H Substitution - Missense Urinary_tract COSM1611522 SMARCA4 c.513A>G p.P171P Substitution - coding silent Liver COSM4950452 SUZ12 c.1122_1147del26 p.K375fs*12 Deletion - Frameshift Liver COSM955454 BAZ1A c.4438C>T p.R1480C Substitution - Missense Skin COSM1466731 MECP2 c.419C>T p.A140V Substitution - Missense Large_intestine COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5486129 ASXL1 c.3152G>A p.R1051H Substitution - Missense Large_intestine COSM4166788 ARID2 c.3540G>A p.T1180T Substitution - coding silent Pituitary COSM3716320 PHF2 c.2453G>T p.G818V Substitution - Missense Upper_aerodigestive_tract COSM4789947 ZGPAT c.509T>A p.L170Q Substitution - Missense Liver COSM3596045 PHF7 c.801G>A p.R267R Substitution - coding silent Skin COSM233559 TDRD1 c.2093G>A p.G698E Substitution - Missense Skin COSM4588863 KIAA2026_ENST00000399933 c.5329A>G p.I1777V Substitution - Missense Bone COSM5347056 ARID1A c.880A>C p.T294P Substitution - Missense Endometrium COSM4938991 TDRD5 c.800C>G p.S267* Substitution - Nonsense Liver COSM992 SMARCB1 c.472C>T p.R158* Substitution - Nonsense Central_nervous_system COSM5724242 MYST1 c.715G>A p.E239K Substitution - Missense Skin COSM2157434 BRD8 c.3464G>A p.R1155K Substitution - Missense Central_nervous_system COSM1100809 CHD7 c.3588G>T p.K1196N Substitution - Missense Endometrium COSM3376943 RBBP5 c.1437C>G p.S479S Substitution - coding silent Pancreas COSM3594652 SETD2 c.5629C>G p.P1877A Substitution - Missense Skin COSM4839803 SP100 c.921T>G p.V307V Substitution - coding silent Cervix COSM1621583 BRPF3 c.2319G>T p.R773R Substitution - coding silent Liver COSM5882495 BAZ1A c.1016A>C p.K339T Substitution - Missense Skin COSM2917607 MYST1 c.671G>A p.R224H Substitution - Missense Large_intestine COSM5387933 AP001011.3_ENST00000320876 c.2854G>A p.E952K Substitution - Missense Skin COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Central_nervous_system COSM988861 CXXC1 c.1347C>G p.R449R Substitution - coding silent Endometrium COSM4592311 JARID2 c.2084C>G p.A695G Substitution - Missense Upper_aerodigestive_tract COSM1223937 RNF17 c.1321G>A p.A441T Substitution - Missense Large_intestine COSM3097837 BRWD3 c.2637A>G p.T879T Substitution - coding silent Large_intestine COSM4507871 PRDM9 c.759C>T p.I253I Substitution - coding silent Skin COSM5104135 BAHCC1 c.1671delG p.G559fs*75 Deletion - Frameshift Prostate COSM5760431 KIAA2026_ENST00000399933 c.3996T>C p.A1332A Substitution - coding silent Bone COSM1716840 ASXL1 c.? p.S847fs*4 Frameshift Haematopoietic_and_lymphoid_tissue COSM3395978 JMJD1C c.1934G>A p.W645* Substitution - Nonsense Prostate COSM3697700 HDGFL1 c.688G>A p.A230T Substitution - Missense Large_intestine COSM106667 SRCAP c.5123A>C p.Q1708P Substitution - Missense Skin COSM4000327 CBX4 c.871T>C p.S291P Substitution - Missense Upper_aerodigestive_tract COSM1463731 PHF2 c.1419G>A p.P473P Substitution - coding silent Large_intestine COSM932748 TRIM66 c.3577C>T p.R1193W Substitution - Missense Endometrium COSM53134 TET2 c.? p.S716* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1416614 TCF20 c.5826delC p.L1943fs*>18 Deletion - Frameshift Large_intestine COSM4596818 TET2 c.1568G>T p.G523V Substitution - Missense Upper_aerodigestive_tract COSM1075248 JARID2 c.1792G>A p.E598K Substitution - Missense Endometrium COSM1613720 ATF2 c.33-2A>C p.? Unknown Liver COSM3578888 SP140_ENST00000392045 c.520G>A p.D174N Substitution - Missense Skin COSM1351603 KMT2A c.1362G>A p.P454P Substitution - coding silent Large_intestine COSM5582103 PHF21B c.703C>T p.Q235* Substitution - Nonsense Skin COSM3087152 BAZ1B c.2048T>C p.L683S Substitution - Missense Large_intestine COSM1209834 HNF1A c.458C>A p.P153H Substitution - Missense Large_intestine COSM1639979 RERE c.1371C>T p.A457A Substitution - coding silent Stomach COSM1214642 MBD5 c.2689G>A p.A897T Substitution - Missense Large_intestine COSM4480997 RERE c.2474C>T p.P825L Substitution - Missense Skin COSM5762834 ASXL1 c.3967A>G p.M1323V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4666255 BRWD1 c.1997_1998insGCA p.Q666_D667insQ Insertion - In frame Large_intestine COSM144594 KMT2D c.3344G>T p.R1115L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5727566 SETD1B c.2065G>A p.E689K Substitution - Missense Skin COSM1716572 BAP1 c.1-?_255+?del p.? Unknown Pleura COSM85824 ATRX c.5364G>T p.Q1788H Substitution - Missense Pancreas COSM3830348 BRPF3 c.2023T>G p.F675V Substitution - Missense Breast COSM3871118 EP400 c.1623G>C p.G541G Substitution - coding silent Skin COSM939281 KDM5A c.1991_1993delAAG p.E664delE Deletion - In frame Endometrium COSM3546361 CHD6 c.4454C>T p.S1485F Substitution - Missense Skin COSM3419518 RERE c.3958C>T p.R1320W Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1724619 PRDM10 c.1084_1085insC p.R362fs*17 Insertion - Frameshift Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1714020 PRDM15 c.1810G>C p.E604Q Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM915019 TDRD1 c.1874G>T p.C625F Substitution - Missense Endometrium COSM3787662 DPF1 c.395T>C p.L132P Substitution - Missense Pancreas COSM1026864 CHD6 c.4251A>T p.E1417D Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM108352 TDRD5 c.39G>A p.K13K Substitution - coding silent Skin COSM3862872 TDRD10 c.145G>A p.E49K Substitution - Missense Skin COSM1936430 BAZ2A_ENST00000379441 c.5663G>A p.R1888H Substitution - Missense Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4481480 PHF14 c.2512C>T p.P838S Substitution - Missense Skin COSM354681 TAF1L c.3120_3121CC>AA p.S1040>? Complex Lung COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4767586 ARID1B c.189A>G p.Q63Q Substitution - coding silent Large_intestine COSM3670872 KDM2A c.2455C>A p.L819M Substitution - Missense Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1264619 RSF1 c.2968delT p.S990fs*30 Deletion - Frameshift Oesophagus COSM3710341 HDGF c.364G>A p.D122N Substitution - Missense Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM165131 TRIM33 c.1329G>C p.L443F Substitution - Missense Breast COSM5408419 ZCWPW1 c.1613C>T p.S538F Substitution - Missense Skin COSM3977099 LBR c.545C>G p.S182C Substitution - Missense Lung COSM271656 GTF3C1 c.5588G>A p.R1863H Substitution - Missense Large_intestine COSM1667761 PRMT6 c.566C>T p.A189V Substitution - Missense Large_intestine COSM5879011 TET2 c.3409+3delA p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5777782 NCOR1 c.6295A>C p.N2099H Substitution - Missense Breast COSM5763725 ATAD2 c.804T>C p.D268D Substitution - coding silent Large_intestine COSM302137 EP400 c.8181A>G p.Q2727Q Substitution - coding silent Large_intestine COSM1607483 CHD8 c.4238A>G p.D1413G Substitution - Missense Liver COSM4387427 BAP1 c.202_227del26 p.D68fs*3 Deletion - Frameshift Eye COSM1082913 ACTL6B c.714G>T p.E238D Substitution - Missense Endometrium COSM4515041 CBX8 c.996C>A p.S332S Substitution - coding silent Skin COSM910298 RAD54L c.1689G>T p.S563S Substitution - coding silent Endometrium COSM87183 TET2 c.5603A>C p.H1868P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM704395 PRMT7 c.796C>T p.R266W Substitution - Missense Pancreas COSM5016227 PHF20L1 c.234delA p.D80fs*45 Deletion - Frameshift Kidney COSM1169694 TET2 c.? p.Q323* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM421119 PRDM1 c.413C>A p.A138D Substitution - Missense Urinary_tract COSM3359899 CHD4 c.4217G>A p.R1406H Substitution - Missense Kidney COSM5500452 NCOA2 c.166A>G p.N56D Substitution - Missense Biliary_tract COSM1734697 SMARCC1 c.402-3delT p.? Unknown Pancreas COSM365337 NSD1 c.5458G>A p.V1820M Substitution - Missense Lung COSM1169638 DNMT3A c.2501C>T p.T834I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM307363 TET2 c.3058C>T p.Q1020* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM219133 DNMT3A c.2245C>T p.R749C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM110007 MECOM c.1841G>A p.G614E Substitution - Missense Skin COSM3380646 BAP1 c.207G>A p.T69T Substitution - coding silent Pancreas COSM4590631 GLYR1 c.1377C>G p.H459Q Substitution - Missense Upper_aerodigestive_tract COSM4693831 JMJD1C c.5451T>G p.P1817P Substitution - coding silent Large_intestine COSM1719987 PHF19 c.800C>T p.A267V Substitution - Missense Skin COSM5990635 ARID1A c.2630C>T p.P877L Substitution - Missense Liver COSM3790333 BRDT c.2200C>T p.H734Y Substitution - Missense Urinary_tract COSM1753968 PHF15 c.1505A>T p.Q502L Substitution - Missense Urinary_tract COSM3615225 PRDM9 c.2492C>T p.P831L Substitution - Missense Skin COSM3714607 ATXN7 c.2312G>A p.R771Q Substitution - Missense Upper_aerodigestive_tract COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24935 HNF1A c.710_711insA p.N237fs*2 Insertion - Frameshift Liver COSM82171 HDAC4 c.2106C>T p.R702R Substitution - coding silent Ovary COSM87249 IKZF1 c.1520C>A p.S507* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM96382 ASXL1 c.1873_1874delCG p.A627fs*7 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM127423 BAZ2A_ENST00000379441 c.3009G>A p.R1003R Substitution - coding silent Stomach COSM140173 MBD1 c.181C>T p.L61F Substitution - Missense Skin COSM134119 BAG6 c.421C>T p.P141S Substitution - Missense Skin COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Thyroid COSM162522 MLL5 c.4261G>A p.V1421I Substitution - Missense Large_intestine COSM167729 DNMT3B c.274C>T p.R92W Substitution - Missense Large_intestine COSM214167 MECP2 c.892G>T p.E298* Substitution - Nonsense Breast COSM254906 PRMT5 c.955C>G p.L319V Substitution - Missense Urinary_tract COSM255010 KDM6A c.2897C>G p.P966R Substitution - Missense Urinary_tract COSM285606 TBL1XR1 c.511G>A p.E171K Substitution - Missense Large_intestine COSM298374 PRDM1 c.968C>T p.T323M Substitution - Missense Large_intestine COSM301930 CHD3 c.721G>C p.A241P Substitution - Missense Cervix COSM315835 TCF20 c.3282A>T p.P1094P Substitution - coding silent Lung COSM319672 CREBBP c.4395-1G>A p.? Unknown Lung COSM308714 TAF1 c.4324_4325insG p.E1443fs*14 Insertion - Frameshift Lung COSM356301 MSL3 c.395C>G p.S132C Substitution - Missense Lung COSM426746 RERE c.2475G>A p.P825P Substitution - coding silent Large_intestine COSM427940 KAT6B c.2623G>A p.D875N Substitution - Missense Ovary COSM435535 CTCF c.850C>A p.H284N Substitution - Missense Breast COSM447458 PRMT10 c.2497C>T p.Q833* Substitution - Nonsense Breast COSM457595 HDAC6 c.855C>T p.P285P Substitution - coding silent Breast COSM451361 BRPF3 c.2705A>G p.N902S Substitution - Missense Breast COSM467448 RSF1 c.1914T>A p.C638* Substitution - Nonsense Kidney COSM480164 SETD2 c.3075A>T p.E1025D Substitution - Missense Kidney COSM1651571 EP300 c.6970_6971insC p.H2324fs*55 Insertion - Frameshift Stomach COSM693712 KMT2D c.13900C>T p.R4634* Substitution - Nonsense Prostate COSM937137 EP400 c.247G>A p.V83I Substitution - Missense Endometrium COSM1026069 NCOA6 c.4469C>T p.S1490L Substitution - Missense Skin COSM1027978 ADNP c.638C>T p.S213L Substitution - Missense Large_intestine COSM1027978 ADNP c.638C>T p.S213L Substitution - Missense Endometrium COSM1023029 PCGF1 c.351C>T p.S117S Substitution - coding silent Endometrium COSM920697 TAF3 c.580C>T p.R194W Substitution - Missense Endometrium COSM742765 TDRD6 c.2588A>G p.K863R Substitution - Missense Lung COSM720293 SP140_ENST00000392045 c.489A>C p.Q163H Substitution - Missense Lung COSM726784 BRD1 c.2610G>T p.A870A Substitution - coding silent Lung COSM990762 SMARCA4 c.4232G>A p.R1411Q Substitution - Missense Endometrium COSM1045455 SETD2 c.3619C>T p.R1207C Substitution - Missense Endometrium COSM1077368 ATAT1 c.715G>A p.D239N Substitution - Missense Endometrium COSM1124798 ZMYM3 c.3485T>C p.L1162P Substitution - Missense Endometrium COSM1122182 HDAC6 c.891C>T p.F297F Substitution - coding silent Large_intestine COSM1087064 EZH2 c.233G>A p.R78H Substitution - Missense Endometrium COSM1082914 ACTL6B c.180G>T p.K60N Substitution - Missense Endometrium COSM1162342 PHC1 c.918A>G p.R306R Substitution - coding silent Pancreas COSM1693776 MECOM c.1852G>A p.E618K Substitution - Missense Skin COSM1236090 NCOR1 c.1066C>G p.Q356E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1606041 PRMT8 c.161G>A p.S54N Substitution - Missense Liver COSM1304865 UHRF1 c.147C>T p.F49F Substitution - coding silent Urinary_tract COSM1375403 IDH2 c.435delG p.T146fs*15 Deletion - Frameshift Prostate COSM1377478 SRCAP c.7213G>C p.E2405Q Substitution - Missense Large_intestine COSM1458104 EYA1 c.1032C>T p.Y344Y Substitution - coding silent Large_intestine COSM1363779 CHD4 c.218delA p.K73fs*129 Deletion - Frameshift Prostate COSM1359515 SETD1B c.1273delC p.Q427fs*11 Deletion - Frameshift Large_intestine COSM1481025 SIRT2 c.1036C>T p.R346W Substitution - Missense Breast COSM1484656 HDAC11 c.900C>A p.T300T Substitution - coding silent Breast COSM1659589 PHC3 c.2376-10A>T p.? Unknown Kidney COSM1715512 SMARCA1 c.1675G>A p.A559T Substitution - Missense Skin COSM1723808 LBR c.894A>T p.G298G Substitution - coding silent Breast COSM1746595 RSF1 c.1509G>C p.E503D Substitution - Missense Urinary_tract COSM1745351 ATAD2 c.831_833delTGA p.D277delD Deletion - In frame Urinary_tract COSM1989211 MBD6 c.389C>T p.A130V Substitution - Missense Large_intestine COSM2022714 MGMT c.466G>T p.G156C Substitution - Missense Large_intestine COSM2154600 SETD8 c.800C>T p.S267F Substitution - Missense Central_nervous_system COSM2158429 JMJD1C c.4179A>T p.K1393N Substitution - Missense Large_intestine COSM2732580 PHF2 c.353T>C p.M118T Substitution - Missense Large_intestine COSM2819143 PRDM15 c.1276G>A p.A426T Substitution - Missense Large_intestine COSM2861153 JHDM1D c.379C>T p.R127C Substitution - Missense Upper_aerodigestive_tract COSM3132333 WHSC1 c.2831G>A p.R944Q Substitution - Missense Large_intestine COSM3358573 PBRM1 c.114_120delTTCCAAT p.S39fs*4 Deletion - Frameshift Kidney COSM3357854 KDM3B c.3146G>A p.G1049E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3388295 BAHCC1 c.2702C>T p.P901L Substitution - Missense Pancreas COSM3373845 PRDM9 c.1071T>A p.Y357* Substitution - Nonsense Thyroid COSM3387623 CDYL2 c.1021G>T p.A341S Substitution - Missense Pancreas COSM3385795 LBR c.1785C>T p.Y595Y Substitution - coding silent Pancreas COSM3382107 ATAD2 c.1177C>T p.R393W Substitution - Missense Large_intestine COSM3404032 DOT1L c.4510G>A p.A1504T Substitution - Missense Central_nervous_system COSM3489637 SCMH1 c.1636C>T p.L546L Substitution - coding silent Skin COSM3508895 SRCAP c.1329C>T p.S443S Substitution - coding silent Skin COSM3508980 SETD1A c.2023G>A p.G675R Substitution - Missense Skin COSM3417476 RNF17 c.457G>T p.E153* Substitution - Nonsense Large_intestine COSM3622185 JARID2 c.3377C>T p.P1126L Substitution - Missense Skin COSM3578880 SP140_ENST00000392045 c.267C>T p.V89V Substitution - coding silent Skin COSM3528405 SMARCA4 c.564G>A p.K188K Substitution - coding silent Skin COSM3531888 LMNB2 c.180G>A p.E60E Substitution - coding silent Skin COSM3735899 KMT2C c.361G>A p.V121I Substitution - Missense Skin COSM3749370 SETD6 c.193T>C p.L65L Substitution - coding silent Large_intestine COSM3854997 NIPBL c.247C>A p.L83I Substitution - Missense Stomach COSM3855015 NIPBL c.3432T>C p.G1144G Substitution - coding silent Stomach COSM3906520 SMARCA2 c.1151G>A p.R384Q Substitution - Missense Stomach COSM3923407 STK31 c.1051C>T p.H351Y Substitution - Missense Skin COSM4013334 BMI1 c.415G>A p.D139N Substitution - Missense Stomach COSM4043690 BAZ2A_ENST00000379441 c.567C>A p.S189S Substitution - coding silent Stomach COSM3996116 PRDM14 c.131C>A p.A44D Substitution - Missense Kidney COSM3984816 ACTA1 c.550G>A p.G184S Substitution - Missense Kidney COSM3993231 PBRM1 c.2669C>A p.A890E Substitution - Missense Kidney COSM4085876 BAZ2B c.6374T>C p.F2125S Substitution - Missense Stomach COSM4119249 SFMBT1 c.2131G>T p.D711Y Substitution - Missense Stomach COSM4060212 SRCAP c.8822G>A p.R2941Q Substitution - Missense Stomach COSM4074050 SMARCA4 c.3350C>T p.A1117V Substitution - Missense Stomach COSM4383930 TET2 c.3965T>G p.L1322R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4490487 PHRF1 c.3647C>T p.P1216L Substitution - Missense Skin COSM4527034 PHC2 c.1437G>A p.E479E Substitution - coding silent Skin COSM4593308 CREBBP c.6682C>G p.H2228D Substitution - Missense Upper_aerodigestive_tract COSM4593599 HELLS c.1706A>C p.K569T Substitution - Missense Upper_aerodigestive_tract COSM4503379 SMEK1 c.638C>T p.S213F Substitution - Missense Skin COSM4504228 TCF20 c.659C>T p.S220F Substitution - Missense Skin COSM4502406 KAT6B c.6127C>T p.H2043Y Substitution - Missense Skin COSM4472219 PRDM5 c.1768C>T p.R590* Substitution - Nonsense Skin COSM4698232 LMNB1 c.834A>G p.S278S Substitution - coding silent Large_intestine COSM4634622 BAZ2B c.254G>T p.G85V Substitution - Missense Large_intestine COSM4611054 ASXL1 c.1935delT p.G646fs*57 Deletion - Frameshift Large_intestine COSM4643743 BAZ2A_ENST00000379441 c.5394T>G p.D1798E Substitution - Missense Large_intestine COSM4626248 CHD7 c.3027G>A p.E1009E Substitution - coding silent Large_intestine COSM4788404 SUZ12 c.1018G>A p.G340R Substitution - Missense Liver COSM4884988 CHD2 c.1835C>A p.A612D Substitution - Missense Upper_aerodigestive_tract COSM4895255 CDYL2 c.286C>T p.P96S Substitution - Missense Skin COSM4877941 PHRF1 c.2554G>A p.G852S Substitution - Missense Prostate COSM4847670 EPC1 c.728G>A p.R243Q Substitution - Missense Cervix COSM4823056 SMCHD1 c.1948G>A p.D650N Substitution - Missense Cervix COSM4951388 PHF16 c.2068C>T p.Q690* Substitution - Nonsense Liver COSM4984989 HNF1A c.1460G>A p.S487N Substitution - Missense Soft_tissue COSM5004582 DNMT1 c.755+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5026424 HDAC3 c.1015C>A p.H339N Substitution - Missense Breast COSM5009474 TRRAP c.5494A>T p.N1832Y Substitution - Missense Large_intestine COSM5038869 EPC1 c.1863+1G>T p.? Unknown Liver COSM5043139 DOT1L c.136G>T p.E46* Substitution - Nonsense Liver COSM5517833 MINA c.412C>T p.H138Y Substitution - Missense Biliary_tract COSM5507540 LMNB1 c.364G>A p.A122T Substitution - Missense Biliary_tract COSM5476519 WHSC1 c.1593G>A p.R531R Substitution - coding silent Large_intestine COSM5473138 SETDB1 c.2794C>T p.R932W Substitution - Missense Large_intestine COSM5442150 EP300 c.4867C>T p.L1623L Substitution - coding silent Oesophagus COSM5456585 NCOR1 c.1738C>T p.R580C Substitution - Missense Large_intestine COSM5422808 CHD8 c.6836G>C p.G2279A Substitution - Missense Pleura COSM5632451 MLL5 c.3494G>C p.R1165T Substitution - Missense Oesophagus COSM5575808 EP400 c.2639T>C p.L880S Substitution - Missense Stomach COSM5752094 PHF6 c.780_789del10 p.F260fs*16 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5751163 TDRD6 c.2115_2116delAG p.G706fs*9 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5757501 HCFC1 c.449G>T p.G150V Substitution - Missense Large_intestine COSM5721363 TDRD7 c.2562C>T p.S854S Substitution - coding silent Skin COSM5601106 BRD8 c.2686C>T p.L896F Substitution - Missense Skin COSM5595298 SETD2 c.4720C>T p.R1574* Substitution - Nonsense Skin COSM5686112 DIDO1 c.2911G>T p.A971S Substitution - Missense Soft_tissue COSM5693360 KDM5A c.1507T>C p.W503R Substitution - Missense Soft_tissue COSM5705877 TP53BP1 c.4627G>T p.E1543* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5561655 KMT2C c.4603C>A p.P1535T Substitution - Missense Prostate COSM5762487 MEN1 c.524T>C p.L175P Substitution - Missense Pancreas COSM5766188 ATRX c.6719T>G p.L2240R Substitution - Missense Central_nervous_system COSM5780471 CHD7 c.6283C>T p.R2095W Substitution - Missense Breast COSM5937643 YY1 c.762T>A p.Y254* Substitution - Nonsense Skin COSM5893829 MGA c.926C>T p.P309L Substitution - Missense Skin COSM5922681 MYST3 c.3241C>T p.P1081S Substitution - Missense Skin COSM6008551 NCOA6 c.5156C>T p.S1719F Substitution - Missense Prostate COSM5973915 KDM3A c.430A>G p.K144E Substitution - Missense Upper_aerodigestive_tract COSM144556 DNMT3A c.? p.G550R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM5946128 MEN1 c.? p.K454fs*? Deletion - Frameshift Pituitary COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM2854066 PBRM1 c.3236C>A p.P1079H Substitution - Missense Large_intestine COSM3650674 PRDM14 c.666G>A p.A222A Substitution - coding silent Skin COSM5944512 TET2 c.3371_3372insGT p.K1125fs*13 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5929242 SFMBT2 c.1789G>A p.E597K Substitution - Missense Skin COSM1125847 BRWD3 c.2888C>T p.S963L Substitution - Missense Endometrium COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM26918 HDAC4 c.3073+1G>A p.? Unknown Breast COSM4441457 BPTF c.2524G>A p.E842K Substitution - Missense Large_intestine COSM5945060 TET2 c.4334A>G p.Q1445R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1108 SMARCB1 c.? p.? Unknown Soft_tissue COSM5948273 SMARCA2 c.667_668ins18 p.Q223>PTAAAAE Complex - insertion inframe Haematopoietic_and_lymphoid_tissue COSM3457030 SIRT4 c.69G>A p.P23P Substitution - coding silent Skin COSM4714010 PHF3 c.3088G>T p.E1030* Substitution - Nonsense Large_intestine COSM3435687 MGMT c.426C>T p.L142L Substitution - coding silent Skin COSM5429908 CTCF c.78G>A p.Q26Q Substitution - coding silent Oesophagus COSM4126233 PRDM8 c.2005C>A p.P669T Substitution - Missense Stomach COSM1054439 WHSC1 c.2535C>A p.C845* Substitution - Nonsense Endometrium COSM3759386 FMR1 c.414G>A p.R138R Substitution - coding silent Large_intestine COSM51469 ARID1A c.1107_1108insG p.Q372fs*28 Insertion - Frameshift Ovary COSM268744 BAZ2B c.3862C>T p.R1288C Substitution - Missense Large_intestine COSM5944534 EZH2 c.168_169insA p.N57fs*25 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4544959 ZMYM4 c.3676G>A p.E1226K Substitution - Missense Skin COSM4649785 KMT2C c.14719C>T p.R4907W Substitution - Missense Large_intestine COSM895732 VPS72 c.541G>T p.E181* Substitution - Nonsense Endometrium COSM132992 ARID1A c.6259G>A p.G2087R Substitution - Missense Liver COSM4491030 ATRX c.3731C>T p.S1244F Substitution - Missense Skin COSM4640994 KAT6B c.1739C>T p.T580M Substitution - Missense Large_intestine COSM971423 CHD9 c.4070G>A p.R1357Q Substitution - Missense Large_intestine COSM5713242 TDRD3 c.938_940delATA p.N315delN Deletion - In frame Large_intestine COSM1241244 HDAC1 c.281-2A>T p.? Unknown Oesophagus COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM5461165 PRDM16 c.3110-5C>T p.? Unknown Large_intestine COSM4448370 BAHCC1 c.3209C>T p.S1070F Substitution - Missense Skin COSM915029 TDRD1 c.3348G>A p.V1116V Substitution - coding silent Endometrium COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Large_intestine COSM5611062 TRRAP c.6763A>G p.M2255V Substitution - Missense Skin COSM1686226 CHD2 c.4757C>T p.S1586F Substitution - Missense Skin COSM3490031 KDM4A c.499A>G p.T167A Substitution - Missense Skin COSM4697546 LBR c.1247C>T p.P416L Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM5011576 JARID2 c.2763G>T p.M921I Substitution - Missense Kidney COSM4939743 TBL1XR1 c.1072G>T p.D358Y Substitution - Missense Oesophagus COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM3608986 KDM3B c.3941C>T p.P1314L Substitution - Missense Skin COSM1315229 PHF6 c.790G>C p.D264H Substitution - Missense Urinary_tract COSM4996814 KMT2C c.8821C>A p.P2941T Substitution - Missense Upper_aerodigestive_tract COSM1955332 EPC1 c.829G>T p.D277Y Substitution - Missense Lung COSM218863 ARID1B c.3281G>A p.G1094D Substitution - Missense Pancreas COSM1222109 PRMT2 c.262G>A p.V88M Substitution - Missense Large_intestine COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1478723 GTF3C1 c.1717A>T p.S573C Substitution - Missense Breast COSM344642 ASXL3 c.2683C>A p.P895T Substitution - Missense Lung COSM5038629 BAP1 c.1060_1061delGT p.V354fs*43 Deletion - Frameshift Liver COSM52802 PBRM1 c.2634delA p.E878fs*37 Deletion - Frameshift Kidney COSM3403856 BRD4 c.1278C>A p.F426L Substitution - Missense Central_nervous_system COSM463109 ASH1L c.2461T>C p.S821P Substitution - Missense Kidney COSM1706227 PRDM4 c.293C>T p.P98L Substitution - Missense Skin COSM5824733 TRIM66 c.734G>A p.S245N Substitution - Missense Pancreas COSM5781280 WHSC1 c.2771G>T p.G924V Substitution - Missense Breast COSM1630066 NCOR1 c.515C>T p.S172L Substitution - Missense Upper_aerodigestive_tract COSM206268 KMT2C c.3639C>T p.S1213S Substitution - coding silent Stomach COSM5566312 PHF1 c.1556G>A p.R519H Substitution - Missense Prostate COSM3618959 CHD1 c.1918C>T p.L640F Substitution - Missense Skin COSM246561 PHF10 c.331T>G p.Y111D Substitution - Missense Lung COSM907723 ARID1A c.4003C>T p.R1335* Substitution - Nonsense Endometrium COSM110812 TET2 c.749_750insA p.N250fs*4 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4777517 IDH2 c.1256T>C p.I419T Substitution - Missense Breast COSM2793026 TDRD7 c.1136A>C p.K379T Substitution - Missense Large_intestine COSM211640 TET2 c.5751G>A p.W1917* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1299431 KMT2D c.8733G>C p.E2911D Substitution - Missense Urinary_tract COSM1107775 SMARCA2 c.3449C>A p.P1150H Substitution - Missense Endometrium COSM1389488 L3MBTL4 c.1669G>A p.G557S Substitution - Missense Large_intestine COSM3704150 ARID2 c.5188C>T p.Q1730* Substitution - Nonsense Liver COSM4921854 BAZ1A c.4085A>G p.K1362R Substitution - Missense Liver COSM1469185 ZMYM3 c.252delG p.L85fs*28 Deletion - Frameshift Large_intestine COSM1679612 RAI1 c.2854G>T p.G952C Substitution - Missense Large_intestine COSM23158 MEN1 c.196_201AGCCCC>T p.S66fs*49 Complex - frameshift Gastrointestinal_tract_(site_indeterminate) COSM3694719 ATRX c.737G>A p.R246H Substitution - Missense Large_intestine COSM5576101 CREBBP c.2181G>A p.M727I Substitution - Missense Stomach COSM4485183 BRPF1 c.2901C>T p.S967S Substitution - coding silent Skin COSM1027515 ZMYND8 c.2860G>A p.E954K Substitution - Missense Breast COSM263784 SMCHD1 c.3470C>T p.S1157L Substitution - Missense Large_intestine COSM1116472 FMR1 c.1444G>A p.G482S Substitution - Missense Endometrium COSM462232 KDM6A c.3337G>A p.V1113I Substitution - Missense Large_intestine COSM1161914 KDM5C c.4213G>C p.E1405Q Substitution - Missense Kidney COSM1169591 PBRM1 c.3039_3039delA p.E1014fs*19 Deletion - Frameshift Kidney COSM3408912 MINA c.1313A>G p.K438R Substitution - Missense Central_nervous_system COSM3526232 MBD1 c.1086C>T p.F362F Substitution - coding silent Breast COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Central_nervous_system COSM4666258 BRWD3 c.5218C>T p.R1740C Substitution - Missense Large_intestine COSM3912236 AIRE c.838C>T p.P280S Substitution - Missense Oesophagus COSM1356507 SUV420H1 c.911C>A p.S304Y Substitution - Missense Large_intestine COSM3928497 TDRD6 c.417C>T p.C139C Substitution - coding silent Central_nervous_system COSM43486 TET2 c.1720_1720delC p.Q574fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4676234 DAXX c.149G>A p.S50N Substitution - Missense Large_intestine COSM931214 SUV420H1 c.806C>T p.A269V Substitution - Missense Endometrium COSM4387834 KMT2D c.13956A>C p.A4652A Substitution - coding silent Pancreas COSM1663470 PHF13 c.728G>T p.G243V Substitution - Missense Kidney COSM1566161 DIDO1 c.4057G>A p.G1353R Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3363853 FMR1 c.1852C>A p.P618T Substitution - Missense Kidney COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5136850 BAHCC1 c.6004delC p.P2003fs*15 Deletion - Frameshift Large_intestine COSM1578109 ARID1A c.6630G>C p.Q2210H Substitution - Missense Urinary_tract COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4832042 BRWD3 c.1448C>T p.S483L Substitution - Missense Cervix COSM1680157 SIRT7 c.644C>T p.A215V Substitution - Missense Skin COSM74414 DNMT3A c.2728G>A p.A910T Substitution - Missense Ovary COSM3697369 CHD1 c.2544T>C p.D848D Substitution - coding silent Large_intestine COSM4274760 ASXL3 c.2241C>G p.S747R Substitution - Missense Large_intestine COSM35408 KAT6B c.3291A>G p.E1097E Substitution - coding silent Central_nervous_system COSM3764560 CREBBP c.4447A>T p.I1483F Substitution - Missense Central_nervous_system COSM3521200 BPTF c.5184A>G p.L1728L Substitution - coding silent Skin COSM97134 PRDM1 c.733_734delGA p.D245fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1099947 MYST3 c.2063G>A p.R688H Substitution - Missense Endometrium COSM5030166 HDAC7 c.1446C>T p.S482S Substitution - coding silent Bone COSM4014458 ERCC6 c.1158C>T p.D386D Substitution - coding silent Stomach COSM1626374 PRDM2 c.3564G>T p.G1188G Substitution - coding silent Liver COSM457076 HCFC1 c.5568C>T p.C1856C Substitution - coding silent Thyroid COSM3552569 SMARCB1 c.821C>T p.S274F Substitution - Missense Skin COSM5911093 BRWD3 c.5045G>A p.W1682* Substitution - Nonsense Skin COSM3988370 GTF3C1 c.6100G>A p.V2034M Substitution - Missense Kidney COSM5472993 PWWP2B c.589G>A p.A197T Substitution - Missense Large_intestine COSM1411123 DNMT3B c.1353delG p.L454fs*136 Deletion - Frameshift Large_intestine COSM282051 KAT2B c.669+6A>C p.? Unknown Large_intestine COSM3762398 TIF1 c.2487A>G p.G829G Substitution - coding silent Soft_tissue COSM4882978 TRIM66 c.1749G>C p.K583N Substitution - Missense Upper_aerodigestive_tract COSM3551341 AIRE c.1120G>A p.G374R Substitution - Missense Skin COSM1341426 ARID1A c.5542delG p.D1850fs*33 Deletion - Frameshift Large_intestine COSM4611662 PHF14 c.540delA p.K182fs*19 Deletion - Frameshift Large_intestine COSM42055 TET2 c.4076G>A p.R1359H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM42055 TET2 c.4076G>A p.R1359H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3736847 BRD8 c.673G>T p.G225C Substitution - Missense Upper_aerodigestive_tract COSM4385247 EP300 c.2645C>G p.P882R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM985401 CBX2 c.411C>T p.R137R Substitution - coding silent Endometrium COSM4401671 RSF1 c.2158G>A p.E720K Substitution - Missense Skin COSM5715318 MLL5 c.1132C>A p.P378T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3060113 MBD4 c.744delA p.G249fs*54 Deletion - Frameshift Large_intestine COSM253734 HDAC4 c.591C>T p.S197S Substitution - coding silent Urinary_tract COSM4887425 AKAP1 c.971T>A p.L324* Substitution - Nonsense Upper_aerodigestive_tract COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1644335 ARID1A c.5541_5542insG p.D1850fs*4 Insertion - Frameshift Lung COSM4060216 SRCAP c.9114G>C p.L3038F Substitution - Missense Stomach COSM1965063 KAT6B c.78G>A p.R26R Substitution - coding silent Large_intestine COSM5945530 ATRX c.4922G>A p.W1641* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM450463 L3MBTL3 c.226C>G p.P76A Substitution - Missense Breast COSM4588876 KDM4C c.1152G>A p.K384K Substitution - coding silent Bone COSM5501573 EP300 c.2858A>G p.N953S Substitution - Missense Biliary_tract COSM1753244 DHX30 c.2548G>A p.E850K Substitution - Missense Urinary_tract COSM328978 KMT2C c.8390delA p.K2797fs*26 Deletion - Frameshift Stomach COSM232788 MGMT c.266T>C p.F89S Substitution - Missense Skin COSM4990240 KMT2D c.13357C>T p.P4453S Substitution - Missense Skin COSM1716800 TET2 c.? p.C1289F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1416470 EP300 c.1784C>T p.P595L Substitution - Missense Large_intestine COSM4414208 ZMYM1 c.444G>C p.V148V Substitution - coding silent Kidney COSM5547537 GTF3C4 c.327_335delGCCCGCACC p.P110_P112delPAP Deletion - In frame Prostate COSM3792315 SETD8 c.747C>T p.L249L Substitution - coding silent Skin COSM3855053 NIPBL c.7840A>G p.I2614V Substitution - Missense Stomach COSM4666121 BRD7 c.1407A>C p.K469N Substitution - Missense Large_intestine COSM4835067 MBTD1 c.660C>T p.F220F Substitution - coding silent Cervix COSM1307794 BRWD1 c.1751C>A p.P584H Substitution - Missense Urinary_tract COSM404450 KDM6A c.353G>A p.R118K Substitution - Missense Lung COSM1426211 TET2 c.2981A>G p.H994R Substitution - Missense Large_intestine COSM5986616 EZH2 c.62_63insGCCC p.E22fs*16 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5942289 SMARCA2 c.2037-5C>T p.? Unknown Skin COSM955472 BAZ1A c.929A>G p.K310R Substitution - Missense Endometrium COSM5723567 CAMKMT c.129C>T p.L43L Substitution - coding silent Skin COSM289942 KMT2C c.2447_2448insA p.Y816fs*1 Insertion - Frameshift Central_nervous_system COSM273000 NCOR1 c.5033T>A p.I1678N Substitution - Missense Large_intestine COSM1583079 DNMT3A c.1743G>A p.W581* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1581357 NSD1 c.2203G>A p.A735T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5974817 SMARCC1 c.348C>A p.G116G Substitution - coding silent Upper_aerodigestive_tract COSM987427 SMCHD1 c.2995A>G p.T999A Substitution - Missense Endometrium COSM3820846 CBX8 c.1161G>T p.E387D Substitution - Missense Breast COSM4013117 TRDMT1 c.485G>A p.R162Q Substitution - Missense Stomach COSM1719243 KDM3B c.1079C>T p.T360I Substitution - Missense Skin COSM4429359 TDRD5 c.699G>A p.P233P Substitution - coding silent Oesophagus COSM127422 BAZ1A c.171G>T p.T57T Substitution - coding silent Upper_aerodigestive_tract COSM268522 AP001011.3_ENST00000320876 c.553A>C p.N185H Substitution - Missense Large_intestine COSM1137079 PBRM1 c.237-1G>A p.? Unknown Kidney COSM3662148 EYA4 c.1754T>A p.F585Y Substitution - Missense Liver COSM40064 MECOM c.2782G>A p.D928N Substitution - Missense Central_nervous_system COSM5879934 KDM6A c.1244_1246delTAC p.L415_L416>F Complex - deletion inframe Haematopoietic_and_lymphoid_tissue COSM12927 STK31 c.2050C>T p.H684Y Substitution - Missense Lung COSM4004056 CDYL c.4A>T p.T2S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5718457 KDM4B c.2413G>A p.G805S Substitution - Missense Skin COSM1067731 NIPBL c.7603G>A p.E2535K Substitution - Missense Endometrium COSM929343 PHRF1 c.2015G>T p.R672I Substitution - Missense Endometrium COSM219075 TET2 c.? p.E1222G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4493424 JMJD5 c.300C>T p.L100L Substitution - coding silent Skin COSM5900924 SETD3 c.28C>T p.Q10* Substitution - Nonsense Skin COSM3724216 ZBTB38 c.267T>A p.N89K Substitution - Missense Upper_aerodigestive_tract COSM5009894 TRRAP c.454C>A p.H152N Substitution - Missense Large_intestine COSM3670034 KIAA2026_ENST00000399933 c.3746G>T p.G1249V Substitution - Missense Liver COSM41877 IDH2 c.418C>T p.R140W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1318632 TET2 c.822delC p.N275fs*18 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5637270 WHSC1 c.3730C>T p.R1244C Substitution - Missense Oesophagus COSM4792373 BAHCC1 c.805C>G p.P269A Substitution - Missense Liver COSM4185653 BAZ1B c.821T>C p.V274A Substitution - Missense Kidney COSM5704917 SETDB1 c.2468T>C p.I823T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2150924 ZMYM3 c.2219G>A p.R740H Substitution - Missense Central_nervous_system COSM987919 ASXL3 c.1979G>T p.R660I Substitution - Missense Endometrium COSM757649 TAF1 c.728G>A p.R243H Substitution - Missense Lung COSM5169495 EZH2 c.444A>G p.E148E Substitution - coding silent Large_intestine COSM317906 PRDM9 c.25G>C p.E9Q Substitution - Missense Soft_tissue COSM5996983 RING1 c.237C>T p.S79S Substitution - coding silent Prostate COSM443839 CHD6 c.893delT p.L298fs*61 Deletion - Frameshift Breast COSM5586772 TDRD5 c.634C>T p.P212S Substitution - Missense Skin COSM3993987 BRD8 c.3589C>T p.R1197W Substitution - Missense Kidney COSM5783822 EP300 c.1101C>G p.P367P Substitution - coding silent Breast COSM5037935 TDRD5 c.345G>A p.P115P Substitution - coding silent Large_intestine COSM1966235 TAF3 c.426G>A p.Q142Q Substitution - coding silent Large_intestine COSM4717520 PRDM9 c.194-2A>G p.? Unknown Large_intestine COSM4121133 TET2 c.1982A>G p.H661R Substitution - Missense Stomach COSM5563091 RAI1 c.283C>T p.P95S Substitution - Missense Prostate COSM287472 ADNP c.2453A>G p.Y818C Substitution - Missense Large_intestine COSM5907450 KMT2C c.2956C>T p.P986S Substitution - Missense Skin COSM4573845 TAF3 c.1635A>G p.E545E Substitution - coding silent Bone COSM5070178 SUZ12 c.1098T>C p.N366N Substitution - coding silent Large_intestine COSM2995163 CTCF c.1886C>T p.A629V Substitution - Missense Large_intestine COSM5454437 GTF3C1 c.608+7G>T p.? Unknown Large_intestine COSM331455 PRDM9 c.882+1G>T p.? Unknown Lung COSM4774843 SMARCB1 c.233_1158del926 p.? Unknown Soft_tissue COSM436777 CBX1 c.358G>A p.E120K Substitution - Missense Breast COSM43410 TET2 c.?_?del? p.?del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM1018625 HDAC4 c.2303C>T p.A768V Substitution - Missense Endometrium COSM4971451 ATRX c.6431A>G p.D2144G Substitution - Missense Central_nervous_system COSM3508215 GTF3C1 c.4300C>T p.Q1434* Substitution - Nonsense Skin COSM3770872 DIDO1 c.5597C>T p.A1866V Substitution - Missense Pancreas COSM4878625 KDM4A c.2230C>T p.R744W Substitution - Missense Prostate COSM51448 ARID1A c.5305_5305delC p.L1769fs*1 Deletion - Frameshift Ovary COSM3900873 CHD7 c.5766C>T p.R1922R Substitution - coding silent Stomach COSM741074 PHF10 c.468A>C p.P156P Substitution - coding silent Lung COSM5707379 DNMT3B c.476C>T p.P159L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4606368 PHF6 c.?_?insGGCCC p.Y103fs*? Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5368386 KMT2A c.10011T>A p.S3337R Substitution - Missense Pancreas COSM4385417 ATRX c.4952T>A p.L1651H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4421633 HDAC4 c.2746A>T p.M916L Substitution - Missense Pleura COSM52812 PBRM1 c.388_401del14 p.D130fs*1 Deletion - Frameshift Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5676254 BAG6 c.1193C>T p.P398L Substitution - Missense Soft_tissue COSM5018569 PHF3 c.2570G>A p.R857H Substitution - Missense Soft_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3464358 CHD4 c.4148-7C>T p.? Unknown Skin COSM352408 SUV420H1 c.2069G>C p.R690T Substitution - Missense Lung COSM318000 SCMH1 c.1440delG p.L482fs*35 Deletion - Frameshift Soft_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1072940 NCOA7 c.1777C>T p.L593L Substitution - coding silent Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1732106 SETD2 c.1795G>T p.E599* Substitution - Nonsense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3461197 HDAC7 c.404C>T p.P135L Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716727 ATRX c.6515A>G p.E2172G Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4849078 NSD1 c.1927G>A p.D643N Substitution - Missense Cervix COSM4148107 METTL21D c.117T>G p.G39G Substitution - coding silent Thyroid COSM4901844 PRDM15 c.714C>T p.F238F Substitution - coding silent Skin COSM216735 SHPRH c.2394G>A p.Q798Q Substitution - coding silent Skin COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM4072468 CXXC1 c.1939A>G p.T647A Substitution - Missense Stomach COSM3728165 KMT2D c.9379G>A p.A3127T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5752724 CTCF c.1999+1G>T p.? Unknown Breast COSM3525851 SETBP1 c.1471C>T p.P491S Substitution - Missense Skin COSM3867842 KAT6B c.1556C>T p.P519L Substitution - Missense Skin COSM3723035 PHF2 c.2955T>C p.S985S Substitution - coding silent Thyroid COSM1017616 SP140_ENST00000392045 c.2478C>T p.I826I Substitution - coding silent Endometrium COSM3545301 DNMT3B c.525G>A p.E175E Substitution - coding silent Skin COSM51220 ARID1A c.1455_1456insCCTAC p.S486fs*135 Insertion - Frameshift Ovary COSM3567437 MBD5 c.1296C>T p.T432T Substitution - coding silent Skin COSM4384963 PHF12 c.1571C>G p.S524C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM37032 EZH2 c.1937A>G p.Y646C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13942 CHD6 c.4974A>G p.E1658E Substitution - coding silent Lung COSM3550711 BRWD1 c.3559G>A p.G1187S Substitution - Missense Skin COSM1608123 SETD3 c.1469G>T p.R490L Substitution - Missense Liver COSM466399 KMT2A c.3918G>A p.P1306P Substitution - coding silent Kidney COSM3488264 PRDM16 c.3722C>T p.S1241F Substitution - Missense Skin COSM133001 ARID1A c.5548_5548delG p.D1850fs*33 Deletion - Frameshift Large_intestine COSM969944 SRCAP c.7283G>A p.R2428H Substitution - Missense Endometrium COSM42080 TET2 c.1348A>T p.K450* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM355009 HDAC7 c.1074A>C p.S358S Substitution - coding silent Lung COSM4788496 KMT2D c.13857C>A p.P4619P Substitution - coding silent Liver COSM1748353 HDAC1 c.943G>A p.E315K Substitution - Missense Urinary_tract COSM1124888 TAF1 c.2352G>A p.Q784Q Substitution - coding silent Endometrium COSM132968 ASXL1 c.? p.E635fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM3545311 DNMT3B c.2058G>A p.E686E Substitution - coding silent Skin COSM464495 ZMYM4 c.994G>T p.V332F Substitution - Missense Kidney COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM51418 ARID1A c.5164C>T p.R1722* Substitution - Nonsense Endometrium COSM80174 MGMT c.228C>T p.I76I Substitution - coding silent Skin COSM88756 CREBBP c.286C>T p.Q96* Substitution - Nonsense Urinary_tract COSM110534 PYGO1 c.953C>T p.T318I Substitution - Missense Skin COSM97030 ASXL1 c.1915_1928del14 p.T639fs*14 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM96532 IDH1 c.390A>G p.I130M Substitution - Missense Thyroid COSM96413 CREBBP c.2678C>T p.S893L Substitution - Missense Soft_tissue COSM133039 EZH2 c.446T>A p.L149Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM137718 L3MBTL1 c.1019C>T p.P340L Substitution - Missense Skin COSM144601 KMT2D c.13585G>A p.V4529M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM221132 KMT2D c.15034C>T p.R5012* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM144609 KMT2D c.6418C>T p.R2140* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM221580 DNMT3A c.2345C>A p.A782D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM186745 ACTR5 c.531G>T p.K177N Substitution - Missense Large_intestine COSM216001 ARID1B c.5896G>A p.E1966K Substitution - Missense Central_nervous_system COSM213156 KDM4B c.3223A>G p.S1075G Substitution - Missense Breast COSM220680 KMT2D c.12796C>T p.R4266* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM231575 DNMT3A c.2512A>G p.N838D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM241603 SHPRH c.2264G>T p.G755V Substitution - Missense Prostate COSM249135 DNMT3A c.1628G>T p.G543V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM241261 PRMT10 c.1836A>C p.K612N Substitution - Missense Stomach COSM253681 BTAF1 c.829G>A p.E277K Substitution - Missense Urinary_tract COSM258164 TET2 c.426C>T p.S142S Substitution - coding silent Skin COSM293686 SP140_ENST00000392045 c.2008delA p.K672fs*4 Deletion - Frameshift Stomach COSM309265 ARID1B c.3679G>T p.D1227Y Substitution - Missense Lung COSM306877 KDM6A c.2712_2717TAAAAA>TAAAAAA p.G904fs Complex Central_nervous_system COSM372007 TRIM24 c.1583G>A p.G528E Substitution - Missense Lung COSM379218 SMYD1 c.583G>A p.V195I Substitution - Missense Lung COSM392000 CREBBP c.4887_4888delGG p.E1630fs*29 Deletion - Frameshift Lung COSM415514 PHRF1 c.1838G>A p.R613Q Substitution - Missense Urinary_tract COSM435130 SRCAP c.9472C>G p.Q3158E Substitution - Missense Breast COSM449333 DUSP1 c.1011C>T p.T337T Substitution - coding silent Breast COSM455755 SMARCA2 c.2011G>C p.E671Q Substitution - Missense Breast COSM473486 CHD3 c.1099G>A p.G367R Substitution - Missense Kidney COSM488622 ATRX c.6928C>A p.P2310T Substitution - Missense Kidney COSM480284 BAP1 c.1078T>C p.F360L Substitution - Missense Kidney COSM557298 GTF3C1 c.1743C>T p.I581I Substitution - coding silent Large_intestine COSM937153 EP400 c.2819C>A p.A940D Substitution - Missense Endometrium COSM939986 KMT2D c.14507G>A p.R4836H Substitution - Missense Endometrium COSM703260 SRCAP c.2236G>C p.D746H Substitution - Missense Lung COSM723884 PHF20 c.1629G>A p.K543K Substitution - coding silent Lung COSM903689 SMYD2 c.378A>T p.E126D Substitution - Missense Endometrium COSM905239 ACTA1 c.962C>T p.A321V Substitution - Missense Endometrium COSM908429 PHC2 c.664-1G>A p.? Unknown Endometrium COSM990754 SMARCA4 c.3356G>A p.R1119H Substitution - Missense Endometrium COSM1602156 ARID1A c.6299A>G p.Q2100R Substitution - Missense Liver COSM1034592 L3MBTL2 c.1749C>T p.C583C Substitution - coding silent Endometrium COSM1041409 TBL1XR1 c.1510G>T p.D504Y Substitution - Missense Endometrium COSM1067092 PRDM9 c.2319G>T p.E773D Substitution - Missense Endometrium COSM1060890 PHF15 c.778C>T p.R260* Substitution - Nonsense Endometrium COSM1245910 BAHCC1 c.3393C>T p.A1131A Substitution - coding silent Oesophagus COSM1255155 JARID2 c.3364G>A p.G1122R Substitution - Missense Stomach COSM1220380 PHF3 c.605G>A p.R202Q Substitution - Missense Large_intestine COSM1155727 BAP1 c.920_921insG p.N308fs*90 Insertion - Frameshift Skin COSM1211727 KDM3B c.4946A>G p.D1649G Substitution - Missense Large_intestine COSM1158362 NCOA6 c.2830G>A p.D944N Substitution - Missense Pancreas COSM1309596 TET2 c.3316G>C p.E1106Q Substitution - Missense Lung COSM1314057 MYST3 c.4213G>A p.E1405K Substitution - Missense Urinary_tract COSM1290467 CHD2 c.4413+2T>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1319701 CHD7 c.7199_7201delGGA p.R2405delR Deletion - In frame Upper_aerodigestive_tract COSM1371930 SETD3 c.1378C>T p.R460C Substitution - Missense Skin COSM1378952 CTCF c.1555G>A p.G519R Substitution - Missense Large_intestine COSM1381127 NCOR1 c.3440G>A p.G1147E Substitution - Missense Liver COSM1416939 BRD1 c.1484G>T p.R495L Substitution - Missense Large_intestine COSM1340244 KDM1A c.1251T>C p.S417S Substitution - coding silent Large_intestine COSM1347628 EPC1 c.727C>T p.R243* Substitution - Nonsense Large_intestine COSM1471247 ATAD2B_ENST00000238789 c.2749A>G p.M917V Substitution - Missense Prostate COSM1611154 AP001011.3_ENST00000320876 c.2507G>A p.R836H Substitution - Missense Bone COSM1618225 TET2 c.4618C>A p.Q1540K Substitution - Missense Liver COSM1627025 PHC2 c.193C>T p.H65Y Substitution - Missense Liver COSM1622667 HDAC9 c.1A>G p.M1V Substitution - Missense Liver COSM1682365 HDAC10 c.833C>T p.T278M Substitution - Missense Large_intestine COSM1680371 MBD2 c.549T>G p.S183R Substitution - Missense Large_intestine COSM1716663 ATRX c.2422C>T p.R808* Substitution - Nonsense Central_nervous_system COSM1664269 SMARCA2 c.1810A>G p.K604E Substitution - Missense Kidney COSM1664273 SMARCC1 c.439C>G p.R147G Substitution - Missense Kidney COSM1664511 TDRD5 c.2711C>G p.P904R Substitution - Missense Kidney COSM1661669 EP300 c.419C>T p.T140I Substitution - Missense Kidney COSM1754849 TDRD6 c.4292C>G p.S1431C Substitution - Missense Urinary_tract COSM1748905 ARID4A c.2677G>A p.E893K Substitution - Missense Urinary_tract COSM1732167 KDM6A c.113delC p.S40fs*2 Deletion - Frameshift Kidney COSM1754256 NIPBL c.942C>T p.I314I Substitution - coding silent Urinary_tract COSM1756792 MBD6 c.2293C>T p.P765S Substitution - Missense Urinary_tract COSM2155629 ATRX c.5529G>C p.Q1843H Substitution - Missense Central_nervous_system COSM2797788 BPTF c.5053C>T p.R1685* Substitution - Nonsense Biliary_tract COSM2848394 GABRG1 c.732G>A p.R244R Substitution - coding silent Skin COSM2866907 TRRAP c.11252C>T p.A3751V Substitution - Missense Stomach COSM3089657 EHMT1 c.1617G>A p.P539P Substitution - coding silent Large_intestine COSM3236920 BRD8 c.3484A>C p.I1162L Substitution - Missense Large_intestine COSM3353851 CDYL c.429C>T p.S143S Substitution - coding silent Large_intestine COSM3341129 NSD1 c.3778G>T p.A1260S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3378977 ASXL1 c.3911T>A p.L1304H Substitution - Missense Pancreas COSM3479297 TDRD5 c.1412C>T p.S471F Substitution - Missense Skin COSM3422184 SETBP1 c.2140A>C p.N714H Substitution - Missense Large_intestine COSM3579813 ATAD2B_ENST00000238789 c.2461C>T p.R821C Substitution - Missense Skin COSM3545295 DNMT3B c.420C>T p.F140F Substitution - coding silent Skin COSM3562282 KDM5C c.3652C>T p.R1218C Substitution - Missense Skin COSM3514561 NCOR1 c.3055C>T p.P1019S Substitution - Missense Skin COSM3652168 TDRD7 c.811C>T p.Q271* Substitution - Nonsense Skin COSM3682695 PCGF1 c.494+4A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3709756 TDRD1 c.1389T>C p.D463D Substitution - coding silent Upper_aerodigestive_tract COSM3737122 TDRD6 c.2112_2114delAGA p.E705delE Deletion - In frame Soft_tissue COSM3840740 ASXL1 c.4008G>A p.G1336G Substitution - coding silent Breast COSM3879447 SMARCD3 c.1026G>A p.T342T Substitution - coding silent Stomach COSM3879604 KMT2C c.1164C>T p.C388C Substitution - coding silent Stomach COSM3900867 CHD7 c.3756C>T p.C1252C Substitution - coding silent Stomach COSM3901384 EYA1 c.568A>G p.T190A Substitution - Missense Stomach COSM3965486 TAF1 c.1087G>T p.D363Y Substitution - Missense Lung COSM4014447 ERCC6 c.2208T>C p.D736D Substitution - coding silent Stomach COSM4093223 NCOA1 c.3640G>C p.G1214R Substitution - Missense Stomach COSM4115155 PHC3 c.495C>T p.P165P Substitution - coding silent Stomach COSM4135696 MEN1 c.505G>T p.G169C Substitution - Missense Pancreas COSM4149057 PHF16 c.1138C>A p.H380N Substitution - Missense Ovary COSM4153870 TRIM24 c.833T>A p.M278K Substitution - Missense Ovary COSM4162014 KMT2C c.2534G>A p.G845E Substitution - Missense Upper_aerodigestive_tract COSM4381931 KMT2C c.943G>T p.G315C Substitution - Missense Oesophagus COSM4384261 EZH2 c.1976G>A p.R659K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4603241 KDM6B c.761_762insACCACC p.P264_L265insPP Insertion - In frame Upper_aerodigestive_tract COSM4596520 NCOA7 c.2723A>T p.D908V Substitution - Missense Upper_aerodigestive_tract COSM4414270 SRCAP c.3654G>C p.L1218F Substitution - Missense Kidney COSM4501287 EP300 c.584C>T p.S195L Substitution - Missense Skin COSM4591270 KMT2C c.2512G>A p.G838S Substitution - Missense Upper_aerodigestive_tract COSM4592047 AKAP1 c.1597A>C p.T533P Substitution - Missense Upper_aerodigestive_tract COSM4457284 SETD7 c.1039C>T p.P347S Substitution - Missense Skin COSM4741205 WHSC1 c.3560delA p.T1189fs*140 Deletion - Frameshift Large_intestine COSM4789288 PHF11 c.623A>G p.H208R Substitution - Missense Liver COSM4804628 UHRF2 c.643G>T p.E215* Substitution - Nonsense Liver COSM4802779 BAZ2A c.3850C>T p.L1284L Substitution - coding silent Liver COSM4788341 PHRF1 c.1203G>T p.R401S Substitution - Missense Liver COSM4788838 EYA3 c.756G>T p.Q252H Substitution - Missense Liver COSM4937600 PHF21B c.1416G>T p.Q472H Substitution - Missense Liver COSM4927628 JARID2 c.586A>C p.K196Q Substitution - Missense Liver COSM4827243 C5orf35 c.13C>T p.L5L Substitution - coding silent Cervix COSM4856817 CHD4 c.1948G>A p.D650N Substitution - Missense Cervix COSM4954414 KMT2A c.3235C>T p.L1079F Substitution - Missense Liver COSM4990881 CREBBP c.4963C>T p.L1655L Substitution - coding silent Skin COSM4974286 ALKBH1 c.942G>A p.P314P Substitution - coding silent Oesophagus COSM5009570 TAF1L c.857G>A p.R286H Substitution - Missense Large_intestine COSM5346993 ARID1A c.3318G>T p.K1106N Substitution - Missense Endometrium COSM5480500 MLL5 c.1123T>G p.F375V Substitution - Missense Large_intestine COSM5474866 HDAC2 c.892A>G p.M298V Substitution - Missense Large_intestine COSM5484015 SRCAP c.5359A>G p.T1787A Substitution - Missense Large_intestine COSM5462630 SUZ12 c.1018G>T p.G340W Substitution - Missense Large_intestine COSM5455270 SMARCA5 c.2434G>A p.A812T Substitution - Missense Large_intestine COSM5424521 ARID4A c.3735A>G p.S1245S Substitution - coding silent Oesophagus COSM5756211 MECOM c.1058T>C p.I353T Substitution - Missense Large_intestine COSM5620938 HDAC5 c.1343T>C p.V448A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5577495 HDAC6 c.3395C>T p.P1132L Substitution - Missense Skin COSM5614181 UBR7 c.484T>G p.F162V Substitution - Missense Lung COSM5661482 GTF3C1 c.3561C>A p.L1187L Substitution - coding silent Soft_tissue COSM5695139 BRWD1 c.199-1G>A p.? Unknown Soft_tissue COSM5708580 TBL1XR1 c.1043A>G p.H348R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5708772 SETD2 c.757C>A p.H253N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5763160 DOT1L c.1466-5C>T p.? Unknown Large_intestine COSM5569767 MBD1 c.989C>T p.T330M Substitution - Missense Prostate COSM5776378 HNF1A c.1488G>A p.L496L Substitution - coding silent Breast COSM5799171 KDM4B c.1120C>T p.H374Y Substitution - Missense Breast COSM5824966 ATRX c.2821G>T p.E941* Substitution - Nonsense Pancreas COSM5929683 SETD1A c.1627C>T p.P543S Substitution - Missense Skin COSM5908834 ATAD2 c.2173C>T p.P725S Substitution - Missense Skin COSM5966678 KIAA2026_ENST00000399933 c.2347G>A p.E783K Substitution - Missense Adrenal_gland COSM5966929 PRDM4 c.813C>A p.D271E Substitution - Missense Adrenal_gland COSM5997454 KMT2C c.658C>G p.Q220E Substitution - Missense Prostate COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM5347212 ARID1A c.?_?del? p.S2249fs*? Deletion - Frameshift Endometrium COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53310 IDH2 c.? p.R140L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5415915 TET2 c.? p.R1452fs Frameshift Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4459797 KMT2D c.10599C>T p.G3533G Substitution - coding silent Skin COSM2155367 MSL3 c.789A>G p.I263M Substitution - Missense Central_nervous_system COSM4168130 TDRD6 c.5801C>T p.S1934F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1700655 PHF20L1 c.793_794GG>AA p.G265K Substitution - Missense Skin COSM5878768 DNMT3A c.2180_2191del12 p.T727_F731>I Complex - deletion inframe Haematopoietic_and_lymphoid_tissue COSM23159 MEN1 c.1413G>A p.W471* Substitution - Nonsense Central_nervous_system COSM4091212 KAT6B c.2955G>A p.L985L Substitution - coding silent Oesophagus COSM1235294 IDH1 c.? p.H133Q Substitution - Missense Central_nervous_system COSM1290830 SETBP1 c.1168G>A p.A390T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5752576 KMT2D c.4972+1G>T p.? Unknown Breast COSM261996 MGA c.7459G>T p.E2487* Substitution - Nonsense Endometrium COSM3849684 NCOA7 c.1847A>G p.N616S Substitution - Missense Prostate COSM4789901 SMCHD1 c.3841G>A p.D1281N Substitution - Missense Liver COSM5947327 TET2 c.3100C>T p.Q1034* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3369871 BRDT c.286G>C p.E96Q Substitution - Missense Thyroid COSM5786128 TRIM24 c.457A>T p.S153C Substitution - Missense Breast COSM230133 KMT2C c.1173C>A p.C391* Substitution - Nonsense Central_nervous_system COSM5344628 PRMT10 c.1434G>A p.M478I Substitution - Missense Large_intestine COSM3578968 SP100 c.2259C>T p.I753I Substitution - coding silent Skin COSM5459554 TRDMT1 c.1106G>A p.R369H Substitution - Missense Large_intestine COSM4138125 NCOR1 c.2518A>C p.N840H Substitution - Missense Pancreas COSM1663335 PBRM1 c.2627G>A p.R876H Substitution - Missense Pancreas COSM1131643 KMT2C c.2683A>T p.R895* Substitution - Nonsense Prostate COSM3394660 HDAC9 c.549C>T p.A183A Substitution - coding silent Pancreas COSM4430836 ZMYM5 c.1146A>G p.V382V Substitution - coding silent Oesophagus COSM3588186 ZBTB38 c.1751C>T p.S584F Substitution - Missense Skin COSM5727426 INTS12 c.273G>T p.K91N Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4411955 KDM6A c.4176+1G>T p.? Unknown Urinary_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5428091 KMT2C c.6832C>T p.P2278S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM452734 KMT2C c.1918G>T p.E640* Substitution - Nonsense Breast COSM1704416 RSF1 c.1612G>A p.E538K Substitution - Missense Skin COSM3435847 PWWP2B c.1608G>A p.T536T Substitution - coding silent Skin COSM724823 DIDO1 c.1465A>G p.S489G Substitution - Missense Lung COSM211663 TET2 c.763C>T p.Q255* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3755969 KDM6B c.2172G>A p.P724P Substitution - coding silent Thyroid COSM5475960 BPTF c.3057C>T p.D1019D Substitution - coding silent Large_intestine COSM4385575 TET2 c.1814_1815insA p.Y605fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5383245 INOC1 c.1990C>T p.R664C Substitution - Missense Skin COSM5352128 PHF2 c.2242G>A p.G748S Substitution - Missense Kidney COSM4546889 TAF1L c.409G>C p.D137H Substitution - Missense Skin COSM4416606 SMARCD2 c.364A>T p.M122L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43417 TET2 c.2746C>T p.Q916* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4160047 BRD9 c.902T>C p.V301A Substitution - Missense Skin COSM3902423 TDRD7 c.2443G>A p.A815T Substitution - Missense Large_intestine COSM4384328 KMT2C c.6910A>G p.M2304V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM221796 TDG c.602A>C p.K201T Substitution - Missense Liver COSM41294 IDH1 c.? p.R132C Substitution - Missense Soft_tissue COSM1200947 CHD1 c.4162G>A p.D1388N Substitution - Missense Large_intestine COSM5715141 CREBBP c.3034G>T p.E1012* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1602137 ARID1A c.997G>A p.A333T Substitution - Missense Liver COSM3775597 PRMT10 c.90G>A p.Q30Q Substitution - coding silent Urinary_tract COSM327350 CHD1 c.5050_5052delCCT p.P1684delP Deletion - In frame Central_nervous_system COSM4970112 TRRAP c.4581G>A p.A1527A Substitution - coding silent Central_nervous_system COSM51453 ARID1A c.1570C>T p.Q524* Substitution - Nonsense Ovary COSM5753947 KMT2D c.14267C>T p.P4756L Substitution - Missense Large_intestine COSM3749702 ACTR5 c.18C>T p.F6F Substitution - coding silent Large_intestine COSM4511129 L3MBTL3 c.858C>T p.V286V Substitution - coding silent Skin COSM5014595 BRPF3 c.945T>A p.N315K Substitution - Missense Kidney COSM98020 SFMBT2 c.2029G>A p.G677R Substitution - Missense Upper_aerodigestive_tract COSM1945472 PRDM4 c.836G>A p.G279D Substitution - Missense Large_intestine COSM315119 SFMBT2 c.877G>T p.A293S Substitution - Missense Lung COSM5422753 TAF3 c.2165A>G p.E722G Substitution - Missense Prostate COSM439934 UHRF1 c.829G>T p.D277Y Substitution - Missense Breast COSM3705786 PRDM16 c.2611G>C p.E871Q Substitution - Missense Liver COSM4387143 SMARCA2 c.3980G>A p.R1327K Substitution - Missense Lung COSM2974769 TRIM28 c.1134G>A p.M378I Substitution - Missense Urinary_tract COSM433830 MGA c.1279C>G p.L427V Substitution - Missense Breast COSM1716570 BAP1 c.38-?_2190+?del p.? Unknown Pleura COSM4054565 MGA c.4691G>T p.G1564V Substitution - Missense Stomach COSM1440426 L3MBTL3 c.1429delA p.M479fs*1 Deletion - Frameshift Large_intestine COSM4425425 CREBBP c.1644A>G p.E548E Substitution - coding silent Oesophagus COSM5945057 TET2 c.4183-2A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3789377 RBBP5 c.871C>T p.H291Y Substitution - Missense Urinary_tract COSM3463536 BAZ2A c.2848C>G p.P950A Substitution - Missense Skin COSM41898 TET2 c.? p.E368* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4693811 JARID2 c.3036G>A p.P1012P Substitution - coding silent Large_intestine COSM3500998 INOC1 c.4394C>T p.A1465V Substitution - Missense Skin COSM3724524 SMARCA4 c.3481_3481delC p.L1161fs*3 Deletion - Frameshift Ovary COSM3697225 NIPBL c.3445C>T p.R1149* Substitution - Nonsense Large_intestine COSM4982821 PHF20L1 c.808G>C p.E270Q Substitution - Missense Oesophagus COSM5715681 PHF21B c.1213G>A p.E405K Substitution - Missense Skin COSM4984043 KMT2C c.6074C>A p.S2025* Substitution - Nonsense Oesophagus COSM931010 KDM2A c.62G>A p.R21H Substitution - Missense Endometrium COSM1118570 RBBP7 c.501T>G p.N167K Substitution - Missense Endometrium COSM427636 ERCC6 c.2019G>T p.L673L Substitution - coding silent Breast COSM4752320 TAF1L c.2672C>T p.T891M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4650401 RAI1 c.2484C>T p.C828C Substitution - coding silent Large_intestine COSM5880970 ACTR5 c.940G>A p.E314K Substitution - Missense Soft_tissue COSM3906624 SMARCA2 c.4204A>G p.N1402D Substitution - Missense Stomach COSM4131185 SMARCA4 c.1524T>C p.H508H Substitution - coding silent Thyroid COSM4587647 TRRAP c.1372A>G p.T458A Substitution - Missense Bone COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Central_nervous_system COSM4170441 KMT2D c.3814C>T p.Q1272* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4151785 CHD3 c.2944C>G p.L982V Substitution - Missense Kidney COSM256036 DNMT3A c.1979A>G p.Y660C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1639820 ARID1A c.4852delC p.P1619fs*7 Deletion - Frameshift Stomach COSM5977714 KMT2C c.6604C>A p.P2202T Substitution - Missense Central_nervous_system COSM1677800 ING1 c.202C>T p.R68W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1465507 SMARCA1 c.2716T>C p.C906R Substitution - Missense Large_intestine COSM205449 ZBTB38 c.1532C>T p.T511M Substitution - Missense Stomach COSM5896356 SETBP1 c.3280C>T p.Q1094* Substitution - Nonsense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4508092 HDAC9 c.648C>T p.F216F Substitution - coding silent Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1559268 TRIM33 c.157G>T p.A53S Substitution - Missense Central_nervous_system COSM3674724 TDRD6 c.4228A>T p.I1410L Substitution - Missense Prostate COSM1028985 DIDO1 c.2319G>C p.R773S Substitution - Missense Endometrium COSM42026 TET2 c.? p.R1366H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2140972 CHD2 c.4318C>T p.R1440* Substitution - Nonsense Large_intestine COSM1309590 TET2 c.2073T>G p.T691T Substitution - coding silent Urinary_tract COSM3525464 ASXL3 c.2683C>T p.P895S Substitution - Missense Skin COSM223385 SFMBT2 c.994C>T p.Q332* Substitution - Nonsense Skin COSM4104159 CBX6 c.395G>A p.R132H Substitution - Missense Large_intestine COSM13892 MSH6 c.3656C>T p.T1219I Substitution - Missense Central_nervous_system COSM3720281 EZH1 c.678T>G p.S226R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3874630 CDYL c.1301T>C p.F434S Substitution - Missense Stomach COSM3392618 SETD5_ENST00000402198 c.470C>A p.P157H Substitution - Missense Pancreas COSM3428161 PHF17 c.604G>T p.E202* Substitution - Nonsense Large_intestine COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4170086 EP300 c.6626_6637del12 p.N2209_Q2213>K Complex - deletion inframe Haematopoietic_and_lymphoid_tissue COSM1372764 RTF1 c.59C>A p.A20D Substitution - Missense Large_intestine COSM444026 ADNP c.2860G>C p.D954H Substitution - Missense Skin COSM359239 UHRF1 c.1741A>T p.K581* Substitution - Nonsense Lung COSM5347193 ARID1A c.?_?del? p.I1954fs*? Deletion - Frameshift Endometrium COSM5667785 WHSC1L1 c.1203G>T p.E401D Substitution - Missense Soft_tissue COSM34192 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM4099105 NCOA3 c.4271G>A p.C1424Y Substitution - Missense Stomach COSM4391133 EHMT1 c.676C>A p.H226N Substitution - Missense Breast COSM1107765 SMARCA2 c.3218G>T p.C1073F Substitution - Missense Endometrium COSM3839974 SMYD5 c.756C>T p.L252L Substitution - coding silent Breast COSM1496555 KMT2C c.11026C>G p.L3676V Substitution - Missense Kidney COSM3749716 NCOA3 c.3753G>A p.Q1251Q Substitution - coding silent Large_intestine COSM1028972 DIDO1 c.4333C>T p.P1445S Substitution - Missense Endometrium COSM4944369 RNF17 c.1236G>A p.V412V Substitution - coding silent Liver COSM3473714 TDRKH c.1386G>A p.G462G Substitution - coding silent Skin COSM5610627 SMARCA4 c.3505G>C p.D1169H Substitution - Missense Skin COSM562918 CBX4 c.1502C>T p.A501V Substitution - Missense Oesophagus COSM88785 EP300 c.5711A>C p.Q1904P Substitution - Missense Skin COSM5464908 PHF20 c.812T>C p.V271A Substitution - Missense Large_intestine COSM4222876 HDGF c.174G>A p.L58L Substitution - coding silent Oesophagus COSM100082 KMT2C c.8390_8390delA p.K2797fs*26 Deletion - Frameshift Large_intestine COSM4992079 TET2 c.1388C>T p.P463L Substitution - Missense Skin COSM4805868 KDM4B c.2400C>G p.C800W Substitution - Missense Liver COSM308681 MSH6 c.3253_3254insC p.F1088fs*5 Insertion - Frameshift Large_intestine COSM4450422 BAHCC1 c.6202+2T>A p.? Unknown Skin COSM1329722 BRPF3 c.293A>G p.K98R Substitution - Missense Ovary COSM2116355 PRMT6 c.102C>T p.T34T Substitution - coding silent Large_intestine COSM3723539 SHPRH c.20G>A p.R7H Substitution - Missense Upper_aerodigestive_tract COSM1385204 SMARCD2 c.1249C>T p.R417C Substitution - Missense Large_intestine COSM5498560 MYST3 c.355A>G p.K119E Substitution - Missense Biliary_tract COSM3911095 ASXL1 c.395C>T p.S132L Substitution - Missense Skin COSM5822593 PRDM1 c.294T>A p.Y98* Substitution - Nonsense Liver COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1341896 PRDM16 c.3596G>A p.R1199H Substitution - Missense Large_intestine COSM1563119 CREBBP c.4134-1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5517275 ZMYM1 c.317A>C p.K106T Substitution - Missense Biliary_tract COSM255121 MEN1 c.401_401delT p.F134fs*51 Deletion - Frameshift Parathyroid COSM3304336 KMT2C c.2908G>A p.A970T Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1359521 SETD1B c.2232C>T p.F744F Substitution - coding silent Large_intestine COSM5910463 NSD1 c.2427G>T p.E809D Substitution - Missense Skin COSM5777702 BPTF c.3857A>G p.N1286S Substitution - Missense Breast COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM979414 KAT2A c.1745C>A p.T582N Substitution - Missense Endometrium COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4887647 RAI1 c.4802T>C p.V1601A Substitution - Missense Upper_aerodigestive_tract COSM936440 SETD8 c.738C>T p.H246H Substitution - coding silent Endometrium COSM4834910 KMT2C c.7013C>T p.S2338L Substitution - Missense Cervix COSM1293062 TAF1 c.1736G>T p.G579V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5916865 BRWD1 c.3232G>A p.D1078N Substitution - Missense Skin COSM5989938 SETBP1 c.3962G>A p.R1321H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5006566 PBRM1 c.?_?del? p.?fs*? Deletion - Frameshift Kidney COSM309012 AIRE c.657C>A p.G219G Substitution - coding silent Lung COSM3555267 PHF21B c.676C>T p.H226Y Substitution - Missense Skin COSM4951024 BAP1 c.101A>C p.D34A Substitution - Missense Liver COSM3690129 ARID4A c.2342A>T p.E781V Substitution - Missense Large_intestine COSM1718147 BAZ2B c.2677+8delA p.? Unknown Skin COSM34090 IDH2 c.516G>T p.R172S Substitution - Missense Central_nervous_system COSM5375062 PRMT8 c.1128G>A p.L376L Substitution - coding silent Skin COSM255240 GABRG1 c.143C>T p.T48M Substitution - Missense Prostate COSM5593412 TDRD5 c.495C>T p.F165F Substitution - coding silent Skin COSM2007015 KMT2D c.7588C>T p.Q2530* Substitution - Nonsense Oesophagus COSM4682119 EYA1 c.1475G>A p.R492Q Substitution - Missense Large_intestine COSM1685867 NCOA1 c.3715C>T p.P1239S Substitution - Missense Skin COSM979855 HDAC5 c.2639C>T p.A880V Substitution - Missense Breast COSM423275 PBRM1 c.1953_1954insA p.S652fs*13 Insertion - Frameshift Kidney COSM4779365 MTA2 c.312G>A p.G104G Substitution - coding silent Liver COSM3322587 PHF19 c.1489C>T p.R497C Substitution - Missense Large_intestine COSM5009090 TRRAP c.448G>T p.E150* Substitution - Nonsense Large_intestine COSM1109522 UHRF2 c.53A>G p.D18G Substitution - Missense Endometrium COSM4778418 ARID1A c.3866+1G>T p.? Unknown Liver COSM3385238 ASH1L c.8857C>T p.R2953C Substitution - Missense Pancreas COSM5825130 MSH6 c.1867C>T p.P623S Substitution - Missense Pancreas COSM1738286 HDAC9 c.1757G>A p.R586H Substitution - Missense Ovary COSM5984515 SMEK1 c.905G>C p.G302A Substitution - Missense Upper_aerodigestive_tract COSM4136103 BAZ2B c.3887A>G p.D1296G Substitution - Missense Ovary COSM1026855 CHD6 c.5124T>C p.Y1708Y Substitution - coding silent Endometrium COSM4586104 PRDM13 c.2121G>A p.L707L Substitution - coding silent Bone COSM52999 EZH2 c.2187_2188insT p.D730fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4410598 PBRM1 c.1168_1169insT p.Y390fs*2 Insertion - Frameshift Kidney COSM1719633 NCOR1 c.3485_3486GG>AA p.R1162Q Substitution - Missense Skin COSM1602148 ARID1A c.3972delC p.P1326fs*155 Deletion - Frameshift Cervix COSM4406091 KDM1A c.2449A>T p.I817F Substitution - Missense Skin COSM4986563 KDM4A c.2300C>T p.S767L Substitution - Missense Soft_tissue COSM3511049 CTCF c.1964C>T p.P655L Substitution - Missense Skin COSM3693810 AIRE c.1065C>T p.P355P Substitution - coding silent Large_intestine COSM5461076 BRD3 c.850C>T p.R284C Substitution - Missense Large_intestine COSM280815 EP400 c.1224G>T p.K408N Substitution - Missense Large_intestine COSM4167359 ZMYM3 c.1279G>A p.V427M Substitution - Missense Breast COSM3750925 LBR c.1071G>A p.S357S Substitution - coding silent Large_intestine COSM740715 SHPRH c.2224T>A p.S742T Substitution - Missense Lung COSM4541527 SETD5_ENST00000402198 c.3018G>A p.V1006V Substitution - coding silent Skin COSM42052 TET2 c.1771C>T p.Q591* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5962260 RSF1 c.2224C>T p.R742W Substitution - Missense Breast COSM1341888 PRDM16 c.2956C>T p.R986C Substitution - Missense Large_intestine COSM5609398 KMT2A c.11113C>A p.R3705S Substitution - Missense Skin COSM4000327 CBX4 c.871T>C p.S291P Substitution - Missense Upper_aerodigestive_tract COSM136208 KDM5B c.2321C>T p.A774V Substitution - Missense Skin COSM3412736 ATAD2 c.853G>A p.D285N Substitution - Missense Central_nervous_system COSM4501454 DIDO1 c.5891C>T p.P1964L Substitution - Missense Skin COSM3375539 KAT6B c.1154C>T p.S385L Substitution - Missense Pancreas COSM1079883 TDRD6 c.1529A>G p.N510S Substitution - Missense Endometrium COSM4721046 RERE c.3685C>T p.R1229W Substitution - Missense Large_intestine COSM3499654 SETD3 c.510C>T p.S170S Substitution - coding silent Skin COSM941740 BAZ2A c.4350C>A p.F1450L Substitution - Missense Large_intestine COSM3418119 ASH1L c.3938G>A p.R1313Q Substitution - Missense Large_intestine COSM373443 MORF4L2 c.403G>A p.E135K Substitution - Missense Lung COSM927030 PRDM11 c.1348C>T p.R450C Substitution - Missense Endometrium COSM1180774 KDM5A c.3597delA p.G1200fs*9 Deletion - Frameshift Stomach COSM251400 ARID1A c.3424C>T p.Q1142* Substitution - Nonsense Liver COSM3592021 KAT2B c.522T>A p.C174* Substitution - Nonsense Skin COSM1646549 CHD4 c.3659A>G p.K1220R Substitution - Missense Lung COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2855524 PHF10 c.389G>A p.R130H Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4695012 KDM5C c.3826G>A p.E1276K Substitution - Missense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4085886 BAZ2B c.3468C>T p.Y1156Y Substitution - coding silent Stomach COSM4637354 PHF12 c.2293C>T p.R765W Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2834946 CHD9 c.7938A>T p.A2646A Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4159761 NSD1 c.6903G>C p.G2301G Substitution - coding silent Thyroid COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM941783 BAZ2A_ENST00000379441 c.1366G>A p.A456T Substitution - Missense Liver COSM139315 SETDB1 c.3706T>C p.F1236L Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM88748 CREBBP c.4337G>A p.R1446H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5642921 SP110 c.1983G>A p.V661V Substitution - coding silent Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM473730 SMCHD1 c.4015T>C p.F1339L Substitution - Missense Kidney COSM5686023 SMARCA4 c.3901A>G p.T1301A Substitution - Missense Soft_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3976887 RBBP5 c.1313G>T p.R438M Substitution - Missense Lung COSM1136737 KDM3A c.1468A>C p.K490Q Substitution - Missense Large_intestine COSM3660230 ZBTB38 c.619G>A p.D207N Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4188945 PBRM1 c.2041_2043delAGT p.S681delS Deletion - In frame Kidney COSM4990248 KMT2D c.8742C>T p.S2914S Substitution - coding silent Skin COSM1085206 SND1 c.2471C>T p.T824I Substitution - Missense Endometrium COSM302137 EP400 c.8181A>G p.Q2727Q Substitution - coding silent Urinary_tract COSM3636481 KMT2C c.9479C>T p.S3160F Substitution - Missense Skin COSM480367 PBRM1 c.2128C>T p.R710* Substitution - Nonsense Large_intestine COSM3356596 RAD54L c.648G>A p.V216V Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4794013 BRWD1 c.1244G>A p.G415E Substitution - Missense Liver COSM4844606 KAT5 c.1023G>C p.K341N Substitution - Missense Cervix COSM3460701 KDM5A c.1871C>T p.P624L Substitution - Missense Skin COSM3472832 PRDM2 c.4332C>T p.A1444A Substitution - coding silent Skin COSM3717206 SMYD4 c.34C>G p.L12V Substitution - Missense Liver COSM250047 ATRX c.3904_3905insA p.R1302fs*7 Insertion - Frameshift Central_nervous_system COSM159179 ARID2 c.4858C>T p.Q1620* Substitution - Nonsense Breast COSM4186981 DIDO1 c.2306C>T p.T769M Substitution - Missense Kidney COSM3656843 TAF1L c.3598C>T p.R1200C Substitution - Missense Prostate COSM4438245 TDRD5 c.1253A>T p.Q418L Substitution - Missense Oesophagus COSM149089 SP110 c.383C>T p.A128V Substitution - Missense Prostate COSM4590338 SIRT6 c.671A>C p.N224T Substitution - Missense Upper_aerodigestive_tract COSM5748877 BAZ2B c.1291C>T p.R431W Substitution - Missense Pancreas COSM346264 EPC1 c.1252G>C p.D418H Substitution - Missense Lung COSM1562099 ARID2 c.15G>A p.T5T Substitution - coding silent Large_intestine COSM4061539 SETD6 c.226C>T p.Q76* Substitution - Nonsense Stomach COSM1334650 ASH1L c.6794A>G p.Q2265R Substitution - Missense Large_intestine COSM937503 ATF7IP c.1873C>T p.R625* Substitution - Nonsense Endometrium COSM3866992 BMI1 c.406G>A p.E136K Substitution - Missense Skin COSM996 SMARCB1 c.727C>T p.Q243* Substitution - Nonsense Soft_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM41213 TET2 c.1864C>T p.Q622* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43420 TET2 c.4546C>T p.R1516* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM43352 MEN1 c.1716_1721delGAGCGC p.S573_A574del Deletion - In frame Parathyroid COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM80471 RSF1 c.378C>T p.L126L Substitution - coding silent Ovary COSM74461 DUSP1 c.616G>A p.V206I Substitution - Missense Ovary COSM75105 KDM5C c.1928C>T p.S643F Substitution - Missense Ovary COSM110771 TET2 c.5111_5123del13 p.D1704fs*11 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM96442 EP300 c.4401_4402insA p.M1470fs*3 Insertion - Frameshift Large_intestine COSM127402 ATRX c.5328C>T p.F1776F Substitution - coding silent Upper_aerodigestive_tract COSM118916 TAF3 c.1695C>T p.D565D Substitution - coding silent Ovary COSM160454 DMAP1 c.739C>T p.L247L Substitution - coding silent Breast COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Central_nervous_system COSM176245 SMARCD1 c.431G>A p.R144Q Substitution - Missense Biliary_tract COSM188273 MYST3 c.5722G>A p.A1908T Substitution - Missense Large_intestine COSM212434 KDM6A c.3763C>T p.R1255W Substitution - Missense Endometrium COSM234781 GTF3C1 c.4536G>C p.T1512T Substitution - coding silent Skin COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Large_intestine COSM249142 DNMT3A c.2185C>T p.R729W Substitution - Missense Stomach COSM249215 KDM5C c.142C>T p.P48S Substitution - Missense Kidney COSM266645 GTF3C1 c.3129C>T p.C1043C Substitution - coding silent Large_intestine COSM277585 TAF1L c.3276G>T p.Q1092H Substitution - Missense Large_intestine COSM311346 GABRG1 c.793G>T p.D265Y Substitution - Missense Lung COSM308485 PBRM1 c.1583delA p.N528fs*41 Deletion - Frameshift Kidney COSM452720 KMT2C c.3512C>G p.T1171S Substitution - Missense Breast COSM479094 BRD1 c.2137G>A p.G713S Substitution - Missense Kidney COSM480909 SMARCA5 c.2213G>A p.R738K Substitution - Missense Kidney COSM480295 BAP1 c.50T>C p.L17P Substitution - Missense Kidney COSM674181 ARID1A c.5532G>A p.W1844* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM695537 AICDA c.391C>G p.R131G Substitution - Missense Lung COSM955468 BAZ1A c.2102T>C p.I701T Substitution - Missense Endometrium COSM1018695 ATAD2B_ENST00000238789 c.739G>A p.G247R Substitution - Missense Endometrium COSM913229 BRDT c.736A>C p.K246Q Substitution - Missense Endometrium COSM1601863 ACTA1 c.468C>G p.D156E Substitution - Missense Liver COSM945768 MPHOSPH8 c.1377T>C p.N459N Substitution - coding silent Endometrium COSM923573 KMT2A c.3190C>T p.R1064* Substitution - Nonsense Endometrium COSM990431 DNMT1 c.4456G>A p.D1486N Substitution - Missense Endometrium COSM1007216 MBD5 c.1005C>A p.G335G Substitution - coding silent Endometrium COSM1007238 MBD5 c.3637G>A p.E1213K Substitution - Missense Endometrium COSM1044872 SETMAR c.1228T>A p.S410T Substitution - Missense Endometrium COSM1045691 DHX30 c.1951G>A p.D651N Substitution - Missense Stomach COSM1108240 TAF1L c.2281G>C p.A761P Substitution - Missense Endometrium COSM1087578 KMT2C c.7278G>T p.E2426D Substitution - Missense Endometrium COSM1080967 PHF3 c.4973G>A p.R1658Q Substitution - Missense Endometrium COSM1085184 SND1 c.1675G>T p.E559* Substitution - Nonsense Endometrium COSM1163731 ADNP c.3047delA p.K1016fs*11 Deletion - Frameshift Stomach COSM1180961 ATXN7 c.2334delC p.T781fs*11 Deletion - Frameshift Large_intestine COSM1162748 BRD9 c.928A>T p.M310L Substitution - Missense Upper_aerodigestive_tract COSM1257785 KMT2D c.2289C>T p.N763N Substitution - coding silent Oesophagus COSM1168033 TET2 c.3070_3110del41 p.I1024fs*5 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1287123 PHRF1 c.3040G>A p.G1014R Substitution - Missense Autonomic_ganglia COSM42029 TET2 c.3646C>T p.R1216* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1439501 PRDM1 c.748C>T p.R250C Substitution - Missense Large_intestine COSM1364805 PHC1 c.1064G>A p.R355Q Substitution - Missense Large_intestine COSM1344943 MTF2 c.1181delA p.G397fs*6 Deletion - Frameshift Large_intestine COSM1360172 EP400 c.2635G>C p.E879Q Substitution - Missense Large_intestine COSM1470961 BPTF c.7178C>T p.S2393L Substitution - Missense Prostate COSM1617434 KAT2B c.2378A>T p.Q793L Substitution - Missense Liver COSM1686020 STK31 c.2179G>A p.E727K Substitution - Missense Skin COSM1699414 TRIM24 c.1334C>T p.S445L Substitution - Missense Skin COSM1751423 PHF20 c.1094C>T p.S365F Substitution - Missense Urinary_tract COSM1732167 KDM6A c.113delC p.S40fs*2 Deletion - Frameshift Kidney COSM1741220 IDH1 c.315C>T p.G105G Substitution - coding silent Soft_tissue COSM2155188 TDRD10 c.409G>A p.A137T Substitution - Missense Large_intestine COSM2145533 ERCC6 c.527G>A p.R176Q Substitution - Missense Large_intestine COSM2098405 CHD4 c.4047C>A p.S1349S Substitution - coding silent Upper_aerodigestive_tract COSM2098405 CHD4 c.4047C>A p.S1349S Substitution - coding silent Upper_aerodigestive_tract COSM2853489 BAP1 c.504C>T p.F168F Substitution - coding silent Biliary_tract COSM3259628 EZH2 c.1943G>A p.G648E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3296126 MBD5 c.1276G>A p.V426I Substitution - Missense Upper_aerodigestive_tract COSM3368818 ARID2 c.222A>G p.E74E Substitution - coding silent Thyroid COSM3396755 EHMT1 c.2656G>A p.G886S Substitution - Missense Prostate COSM3488871 ZMYM1 c.1673T>A p.I558N Substitution - Missense Skin COSM3494934 CHD8 c.3398G>A p.G1133D Substitution - Missense Skin COSM3432136 PHF20L1 c.196C>T p.R66* Substitution - Nonsense Large_intestine COSM3420105 UBR7 c.244T>G p.C82G Substitution - Missense Large_intestine COSM3473673 POGZ c.3112C>T p.Q1038* Substitution - Nonsense Skin COSM3640344 BAZ1B c.3343C>T p.P1115S Substitution - Missense Skin COSM3637548 STK31 c.1717C>T p.Q573* Substitution - Nonsense Skin COSM3604086 GABRG1 c.911C>T p.S304L Substitution - Missense Skin COSM3597977 SETD5_ENST00000402198 c.3557G>A p.R1186Q Substitution - Missense Skin COSM3608979 KDM3B c.2094C>T p.S698S Substitution - coding silent Skin COSM3579791 HDAC4 c.3048C>T p.S1016S Substitution - coding silent Skin COSM3594798 SMARCC1 c.788G>A p.W263* Substitution - Nonsense Skin COSM3567465 MBD5 c.4002C>T p.I1334I Substitution - coding silent Skin COSM3549151 ZGPAT c.1141C>T p.L381L Substitution - coding silent Skin COSM3563509 ATRX c.3789C>A p.D1263E Substitution - Missense Skin COSM3525432 ASXL3 c.1319C>T p.S440F Substitution - Missense Skin COSM3721997 GTF3C1 c.5276A>G p.K1759R Substitution - Missense Upper_aerodigestive_tract COSM3723031 PHF14 c.344A>G p.K115R Substitution - Missense Upper_aerodigestive_tract COSM3710007 KMT2A c.4965G>A p.R1655R Substitution - coding silent Upper_aerodigestive_tract COSM3736217 BAZ2B c.5999A>G p.N2000S Substitution - Missense Skin COSM3779983 KIAA1045 c.514G>A p.E172K Substitution - Missense Urinary_tract COSM3793674 BAZ1A c.3658G>C p.D1220H Substitution - Missense Urinary_tract COSM3862514 PRDM2 c.1930C>T p.P644S Substitution - Missense Skin COSM3848627 KIAA2026_ENST00000399933 c.5646A>C p.T1882T Substitution - coding silent Breast COSM3824535 ATXN7 c.1618T>G p.W540G Substitution - Missense Breast COSM3824892 TET2 c.1966C>T p.P656S Substitution - Missense Breast COSM3826830 BRD8 c.2053G>A p.D685N Substitution - Missense Breast COSM3900244 MYST3 c.3035G>A p.R1012Q Substitution - Missense Stomach COSM4032631 RAG2 c.535C>A p.L179M Substitution - Missense Stomach COSM4045989 ING1 c.603C>T p.A201A Substitution - coding silent Stomach COSM4042133 HDAC7 c.975C>T p.P325P Substitution - coding silent Stomach COSM4040229 EP400 c.1269G>A p.L423L Substitution - coding silent Stomach COSM3984205 SETDB1 c.3826G>A p.E1276K Substitution - Missense Kidney COSM4100217 DIDO1 c.622A>G p.T208A Substitution - Missense Stomach COSM4121653 PRDM5 c.1379A>C p.K460T Substitution - Missense Stomach COSM4060269 SETD1A c.207C>T p.S69S Substitution - coding silent Stomach COSM4064365 RAI1 c.4328C>T p.A1443V Substitution - Missense Stomach COSM4136068 MBD5 c.4337A>T p.K1446I Substitution - Missense Ovary COSM4136815 ASXL1 c.3012C>A p.D1004E Substitution - Missense Ovary COSM4136197 ARID2 c.1024-2A>C p.? Unknown Pancreas COSM4146004 MTA2 c.1357A>C p.T453P Substitution - Missense Thyroid COSM4162014 KMT2C c.2534G>A p.G845E Substitution - Missense Upper_aerodigestive_tract COSM4171652 KMT2C c.350C>G p.A117G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384340 KMT2C c.4630C>T p.P1544S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4569194 INOC1 c.1585T>C p.L529L Substitution - coding silent Skin COSM4455339 EP300 c.736A>T p.M246L Substitution - Missense Skin COSM4479581 TRDMT1 c.233C>T p.P78L Substitution - Missense Skin COSM4725911 SHPRH c.1984A>G p.I662V Substitution - Missense Large_intestine COSM4737269 TTF2 c.1641T>C p.H547H Substitution - coding silent Large_intestine COSM4730572 STK31 c.2549T>C p.I850T Substitution - Missense Large_intestine COSM4665232 BAZ2B c.5868T>C p.C1956C Substitution - coding silent Large_intestine COSM4677503 DIDO1 c.4693C>T p.R1565C Substitution - Missense Large_intestine COSM4677504 DIDO1 c.4515C>T p.A1505A Substitution - coding silent Large_intestine COSM4640336 PRMT2 c.1118C>T p.T373M Substitution - Missense Large_intestine COSM4766060 SMARCB1 c.961T>A p.W321R Substitution - Missense Soft_tissue COSM4936757 JMJD1C c.5206-10C>T p.? Unknown Prostate COSM4917858 BAZ1A c.4325T>C p.V1442A Substitution - Missense Liver COSM4941516 KMT2A c.1542C>T p.P514P Substitution - coding silent Liver COSM4827199 WHSC1L1 c.21C>G p.F7L Substitution - Missense Cervix COSM4841529 MGA c.1030G>A p.E344K Substitution - Missense Cervix COSM4846646 PHRF1 c.436C>G p.P146A Substitution - Missense Cervix COSM4809170 EP400 c.7486C>G p.Q2496E Substitution - Missense Pancreas COSM4949849 ATRX c.3307A>T p.K1103* Substitution - Nonsense Liver COSM5050063 SUV39H2 c.1000G>A p.V334I Substitution - Missense Stomach COSM5176275 PWWP2B c.1222G>A p.V408I Substitution - Missense Liver COSM5039574 AP001011.3_ENST00000320876 c.2599G>A p.A867T Substitution - Missense Liver COSM5392065 CHD6 c.3957C>T p.S1319S Substitution - coding silent Skin COSM5362855 MGA c.2678C>A p.P893H Substitution - Missense Large_intestine COSM5356973 HDAC3 c.234G>A p.M78I Substitution - Missense Large_intestine COSM5520501 DOT1L c.1833G>A p.W611* Substitution - Nonsense Biliary_tract COSM5434811 PHRF1 c.3832G>A p.V1278I Substitution - Missense Oesophagus COSM5451422 RAI1 c.3203C>T p.T1068M Substitution - Missense Large_intestine COSM5771927 ADNP c.1265G>C p.G422A Substitution - Missense Breast COSM5724322 SMARCA4 c.233C>T p.S78F Substitution - Missense Skin COSM5723097 DNMT3B c.2215C>T p.L739L Substitution - coding silent Skin COSM5723305 KDM5C c.2341C>T p.L781L Substitution - coding silent Skin COSM5577115 TET2 c.2606C>T p.P869L Substitution - Missense Skin COSM5677520 CHD7 c.7009C>T p.R2337C Substitution - Missense Soft_tissue COSM5731844 ASXL1 c.1008G>T p.R336S Substitution - Missense Soft_tissue COSM5825085 LMNB1 c.1011C>T p.R337R Substitution - coding silent Pancreas COSM5824333 DOT1L c.1497G>T p.L499L Substitution - coding silent Liver COSM5977656 KMT2C c.14621G>A p.R4874Q Substitution - Missense Central_nervous_system COSM5891210 ZMYND8 c.3424C>T p.Q1142* Substitution - Nonsense Skin COSM5893907 BPTF c.3049G>A p.E1017K Substitution - Missense Skin COSM5965210 PHF7 c.850G>A p.D284N Substitution - Missense Breast COSM5984709 ACTB c.808G>C p.E270Q Substitution - Missense Upper_aerodigestive_tract COSM6012439 HDAC2 c.432G>C p.K144N Substitution - Missense Skin COSM6008328 CBX8 c.1139C>T p.T380M Substitution - Missense Prostate COSM6004419 ZMYND8 c.3122C>T p.T1041I Substitution - Missense Prostate COSM5995746 SMARCA5 c.2088C>T p.G696G Substitution - coding silent Prostate COSM5982483 HAT1 c.645C>T p.L215L Substitution - coding silent Upper_aerodigestive_tract COSM42050 TET2 c.4502_4505delAAAC p.Q1501fs*69 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM166415 ASXL1 c.? p.E1102D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM166348 DNMT3A c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM42041 TET2 c.1795_1798delCAAA p.Q599fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM961538 MGA c.7594G>T p.G2532* Substitution - Nonsense Endometrium COSM2866600 TRRAP c.4086C>T p.L1362L Substitution - coding silent Skin COSM4170042 TET2 c.2911G>A p.E971K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM21481 HNF1A c.872_873insC p.G292fs*25 Insertion - Frameshift Liver COSM3727905 ADNP c.2248G>A p.V750I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4421146 ARID2 c.1979C>A p.S660* Substitution - Nonsense Pleura COSM306879 KDM6A c.2776_2777TC>T p.S926fs Complex Central_nervous_system COSM5412318 HCFC1 c.1153C>T p.P385S Substitution - Missense Skin COSM5352414 HNF1A c.1502-1_1502ins300 p.A501_L502ins17 Insertion - In frame Liver COSM680167 ARID1A c.6311C>T p.S2104F Substitution - Missense Lung COSM4495817 EP400 c.4616C>T p.P1539L Substitution - Missense Skin COSM218303 PRDM10 c.2411G>A p.R804Q Substitution - Missense Pancreas COSM4832991 ACTR6 c.390C>G p.L130L Substitution - coding silent Cervix COSM300159 SFMBT2 c.1198C>T p.R400* Substitution - Nonsense Large_intestine COSM4589532 TAF1 c.5274A>G p.R1758R Substitution - coding silent Bone COSM1093572 TRRAP c.1705G>T p.A569S Substitution - Missense Endometrium COSM22603 MEN1 c.111_112insT p.S38fs*79 Insertion - Frameshift Parathyroid COSM1391999 DOT1L c.160G>A p.A54T Substitution - Missense Large_intestine COSM723977 NCOA6 c.5588G>T p.G1863V Substitution - Missense Lung COSM309309 ASH1L c.832A>T p.T278S Substitution - Missense Soft_tissue COSM5968058 EP300 c.5962G>T p.G1988W Substitution - Missense Genital_tract COSM5950167 BAZ1B c.3698_3701delCCGC p.P1233fs*49 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5919500 CHD7 c.3574G>A p.E1192K Substitution - Missense Skin COSM426747 RERE c.2364A>G p.P788P Substitution - coding silent Large_intestine COSM3788564 PRDM2 c.3194C>G p.S1065C Substitution - Missense Urinary_tract COSM284918 SETD2 c.1191C>T p.C397C Substitution - coding silent Large_intestine COSM397516 SETD1A c.4218A>C p.P1406P Substitution - coding silent Soft_tissue COSM3912104 BRWD1 c.2785C>T p.P929S Substitution - Missense Skin COSM41644 TET2 c.1648C>T p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5971743 CCDC101 c.18C>T p.A6A Substitution - coding silent Upper_aerodigestive_tract COSM4985950 SP110 c.2061A>T p.L687F Substitution - Missense Soft_tissue COSM1666674 SETBP1 c.? p.S869G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4921291 SIRT6 c.325T>C p.F109L Substitution - Missense Liver COSM110729 BAP1 c.226_239del14 p.I76fs*45 Deletion - Frameshift Eye COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM3035433 RBBP7 c.49A>G p.N17D Substitution - Missense Large_intestine COSM230320 CHD9 c.6095C>T p.P2032L Substitution - Missense Skin COSM4169527 TET2 c.? p.T1985I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4387032 BRWD3 c.656G>A p.R219H Substitution - Missense Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3360873 ZMYM4 c.3765C>G p.L1255L Substitution - coding silent Kidney COSM5366624 EP300 c.2352G>A p.P784P Substitution - coding silent Large_intestine COSM4624753 HDAC10 c.834G>A p.T278T Substitution - coding silent Large_intestine COSM1314058 MYST3 c.3379C>G p.L1127V Substitution - Missense Urinary_tract COSM921433 BTAF1 c.2647G>A p.E883K Substitution - Missense Endometrium COSM3590021 PHC3 c.734C>T p.P245L Substitution - Missense Skin COSM268720 ATAD2 c.2993A>G p.H998R Substitution - Missense Large_intestine COSM293638 GABRG1 c.792delT p.F264fs*3 Deletion - Frameshift Large_intestine COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53048 TET2 c.? p.P1419R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM1161973 DNMT3A c.168G>T p.K56N Substitution - Missense Kidney COSM85916 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM30427 KMT2D c.9042C>T p.S3014S Substitution - coding silent Large_intestine COSM4666201 BRPF3 c.3188G>A p.S1063N Substitution - Missense Large_intestine COSM144612 KMT2D c.11152C>T p.Q3718* Substitution - Nonsense Cervix COSM4644933 KDM4C c.2334C>T p.C778C Substitution - coding silent Large_intestine COSM4603590 KMT2C c.2448_2449insA p.I817fs*11 Insertion - Frameshift Upper_aerodigestive_tract COSM4995747 HDAC5 c.16G>T p.E6* Substitution - Nonsense Upper_aerodigestive_tract COSM85916 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5601048 ARID1B c.3761G>A p.R1254K Substitution - Missense Skin COSM5923170 PRMT7 c.1091C>T p.P364L Substitution - Missense Skin COSM5945893 ARID2 c.3217C>G p.P1073A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5061585 ARID1B c.4243C>T p.Q1415* Substitution - Nonsense Stomach COSM1477111 ZMYM2 c.1183G>C p.E395Q Substitution - Missense Breast COSM4946435 ZBTB38 c.311T>G p.V104G Substitution - Missense Liver COSM3417162 APOBEC1 c.183C>T p.H61H Substitution - coding silent Large_intestine COSM3819429 PCGF2 c.291C>A p.F97L Substitution - Missense Breast COSM43417 TET2 c.2746C>T p.Q916* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1624667 GTF3C4 c.1937A>C p.E646A Substitution - Missense Liver COSM1363345 MBD6 c.2074delC p.Q694fs*5 Deletion - Frameshift Large_intestine COSM347987 PRDM15 c.3024G>A p.L1008L Substitution - coding silent Kidney COSM1605716 SETD8 c.874C>A p.R292S Substitution - Missense Liver COSM1080955 PHF3 c.2869A>C p.K957Q Substitution - Missense Large_intestine COSM52982 EZH2 c.2143_2143delA p.I715fs*25 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4070653 BAHCC1 c.1377G>A p.A459A Substitution - coding silent Stomach COSM907723 ARID1A c.4003C>T p.R1335* Substitution - Nonsense Large_intestine COSM87001 DNMT3A c.2644C>A p.R882S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5634432 EYA3 c.1165G>T p.G389C Substitution - Missense Oesophagus COSM1666914 SMARCB1 c.491_492insCCTT p.P165fs*6 Insertion - Frameshift Central_nervous_system COSM684720 JMJD1C c.3004G>T p.E1002* Substitution - Nonsense Lung COSM4002744 PBRM1 c.4335A>G p.P1445P Substitution - coding silent Soft_tissue COSM468038 EP400 c.8229G>A p.Q2743Q Substitution - coding silent Kidney COSM2068725 HDAC7 c.2304_2305insC p.M769fs*5 Insertion - Frameshift Large_intestine COSM908426 PHC2 c.1719C>T p.I573I Substitution - coding silent Endometrium COSM5660053 NCOA6 c.2893G>A p.E965K Substitution - Missense Soft_tissue COSM4512303 MGA c.9142C>T p.P3048S Substitution - Missense Skin COSM3205524 TBL1XR1 c.1340G>A p.S447N Substitution - Missense Large_intestine COSM1583153 DNMT3A c.? p.?fs Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5802603 JHDM1D c.1925_1926insT p.T643fs*10 Insertion - Frameshift Breast COSM3749702 ACTR5 c.18C>T p.F6F Substitution - coding silent Large_intestine COSM932774 TRIM66 c.586C>T p.R196C Substitution - Missense Endometrium COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Prostate COSM4554629 TDRD5 c.626G>A p.R209K Substitution - Missense Skin COSM5991601 PHF6 c.241_374del134 p.M81fs*12 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5982021 PRDM1 c.? p.L414P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1375552 CHD2 c.3725delA p.K1245fs*4 Deletion - Frameshift Skin COSM216777 KMT2C c.5065G>T p.E1689* Substitution - Nonsense Pancreas COSM3021883 JARID2 c.3112A>C p.S1038R Substitution - Missense Large_intestine COSM110749 TET2 c.685_686insA p.T229fs*25 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3973898 ATRX c.6055A>G p.K2019E Substitution - Missense Central_nervous_system COSM3441884 HELLS c.601C>T p.P201S Substitution - Missense Skin COSM5911078 SETD4 c.307C>T p.P103S Substitution - Missense Skin COSM5639718 ATRX c.3848A>T p.N1283I Substitution - Missense Oesophagus COSM1641364 ZMYND8 c.1964delA p.K655fs*14 Deletion - Frameshift Large_intestine COSM4884531 BRD1 c.2274G>T p.Q758H Substitution - Missense Upper_aerodigestive_tract COSM3637067 HDAC9 c.2126C>T p.P709L Substitution - Missense Skin COSM1682348 BRD1 c.1816C>T p.P606S Substitution - Missense Large_intestine COSM4613468 RERE c.4330delC p.L1444fs*16 Deletion - Frameshift Large_intestine COSM87010 DNMT3A c.2309C>G p.S770W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM255054 EP300 c.644_654del11 p.G216fs*2 Deletion - Frameshift Urinary_tract COSM1383303 KAT2A c.2042G>A p.R681H Substitution - Missense Prostate COSM936088 SETD1B c.976G>A p.A326T Substitution - Missense Endometrium COSM4495671 CHD6 c.4590C>T p.I1530I Substitution - coding silent Skin COSM3911155 NCOA6 c.1325C>T p.S442F Substitution - Missense Skin COSM945396 ING1 c.305G>A p.R102H Substitution - Missense Stomach COSM1263591 PWWP2B c.458G>A p.R153Q Substitution - Missense Oesophagus COSM488457 KDM5C c.2437C>T p.Q813* Substitution - Nonsense Kidney COSM961514 MGA c.4058G>A p.S1353N Substitution - Missense Endometrium COSM1497267 PHF16 c.1233A>G p.V411V Substitution - coding silent Kidney COSM3508233 GTF3C1 c.1193T>A p.L398Q Substitution - Missense Skin COSM4054502 RTF1 c.1277G>A p.R426H Substitution - Missense Stomach COSM3816030 MGA c.5721C>G p.S1907S Substitution - coding silent Breast COSM252979 CLOCK c.368delT p.L123fs*1 Deletion - Frameshift Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3717147 PRDM7 c.414G>T p.T138T Substitution - coding silent Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM484897 TIF1 c.1559A>C p.N520T Substitution - Missense Kidney COSM3762239 ACTL6B c.852C>T p.Y284Y Substitution - coding silent Large_intestine COSM311721 HDAC3 c.313T>C p.S105P Substitution - Missense Lung COSM5403160 NSD1 c.7387C>T p.P2463S Substitution - Missense Skin COSM3635748 EZH2 c.425A>T p.D142V Substitution - Missense Skin COSM1621858 PHF3 c.2455A>G p.I819V Substitution - Missense Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96386 ASXL1 c.1978_1980delGGC p.G660del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM1685354 KMT2D c.1940_1941insC p.P648fs*2 Insertion - Frameshift Large_intestine COSM52882 PBRM1 c.1999G>T p.E667* Substitution - Nonsense Kidney COSM4665227 BAZ2A_ENST00000379441 c.4552C>T p.L1518F Substitution - Missense Large_intestine COSM1387296 BAHCC1 c.6379G>A p.G2127S Substitution - Missense Large_intestine COSM4384700 KMT2D c.13664G>A p.R4555Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM961986 TP53BP1 c.256G>T p.E86* Substitution - Nonsense Endometrium COSM52986 DNMT3A c.? p.L805* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM373629 EPC2 c.839G>T p.G280V Substitution - Missense Lung COSM1319426 SMC1A c.287G>A p.R96H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4383941 TET2 c.4160A>T p.N1387I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5955771 BAZ1B c.4111G>A p.D1371N Substitution - Missense Upper_aerodigestive_tract COSM94112 TET1 c.985T>G p.F329V Substitution - Missense Prostate COSM1348079 ERCC6 c.1773G>A p.P591P Substitution - coding silent Large_intestine COSM3766399 UHRF1 c.1386A>C p.I462I Substitution - coding silent Liver COSM703446 FTO c.757G>C p.E253Q Substitution - Missense Lung COSM3688060 EP400 c.1674C>T p.P558P Substitution - coding silent Large_intestine COSM1227528 SRCAP c.6452G>A p.R2151H Substitution - Missense Large_intestine COSM22032 NCOA6 c.3178C>T p.P1060S Substitution - Missense Breast COSM1738034 ASXL1 c.? p.P938fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM4147092 KMT2D c.13788C>T p.G4596G Substitution - coding silent Thyroid COSM3171700 NCOA7 c.2231C>G p.T744S Substitution - Missense Large_intestine COSM3720499 SUZ12 c.372_375delAACA p.N126fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM484902 TIF1 c.2494A>C p.I832L Substitution - Missense Kidney COSM85847 MEN1 c.548G>A p.W183* Substitution - Nonsense Pancreas COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3886027 BAZ1A c.1781C>T p.P594L Substitution - Missense Skin COSM168089 KMT2D c.6251delC p.P2084fs*30 Deletion - Frameshift Biliary_tract COSM34192 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM5587231 ATF7IP c.839C>T p.T280I Substitution - Missense Skin COSM333768 SFMBT2 c.1724C>T p.A575V Substitution - Missense Lung COSM1662474 KIAA2026_ENST00000399933 c.1206G>C p.Q402H Substitution - Missense Kidney COSM1288405 TDRD5 c.1501G>T p.D501Y Substitution - Missense Autonomic_ganglia COSM3393521 PRDM9 c.610+7G>T p.? Unknown Pancreas COSM1552800 NCOA2 c.4087G>A p.G1363R Substitution - Missense Large_intestine COSM4576346 ASH1L c.1107T>C p.N369N Substitution - coding silent Bone COSM1054445 WHSC1 c.3683G>A p.R1228H Substitution - Missense Endometrium COSM5963026 HDAC5 c.2680C>T p.R894C Substitution - Missense Breast COSM3932816 AP001011.3_ENST00000320876 c.2122G>A p.V708I Substitution - Missense Urinary_tract COSM5952547 PHF17 c.1427A>G p.N476S Substitution - Missense Oesophagus COSM1048996 SETD5_ENST00000402198 c.2486G>A p.S829N Substitution - Missense Endometrium COSM1425746 SETD5_ENST00000402198 c.2467G>T p.D823Y Substitution - Missense Large_intestine COSM3712646 AP001011.3_ENST00000320876 c.922C>T p.H308Y Substitution - Missense Upper_aerodigestive_tract COSM4776062 NSD1 c.6656G>A p.R2219H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1642887 SHPRH c.277delT p.S93fs*5 Deletion - Frameshift Large_intestine COSM1716901 EZH2 c.492_493insGT p.F165fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5444453 NCOA6 c.1536T>G p.P512P Substitution - coding silent Oesophagus COSM27264 MLLT6 c.1940C>T p.T647I Substitution - Missense Skin COSM1479123 CDYL2 c.1095G>T p.L365L Substitution - coding silent Breast COSM5639146 ATAD2 c.3546G>A p.K1182K Substitution - coding silent Oesophagus COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3885835 CHD8 c.1226C>T p.S409F Substitution - Missense Skin COSM3831278 ZCWPW1 c.548C>T p.T183I Substitution - Missense Breast COSM40313 MEN1 c.909C>T p.H303H Substitution - coding silent Central_nervous_system COSM5402191 KDM3B c.2538C>T p.G846G Substitution - coding silent Skin COSM1222120 PRMT8 c.1015G>A p.V339I Substitution - Missense Large_intestine COSM423166 PBRM1 c.4529_4536delTCAGTGCG p.L1510fs*6 Deletion - Frameshift Kidney COSM4593173 CBX4 c.691A>C p.N231H Substitution - Missense Upper_aerodigestive_tract COSM133011 ARID1A c.827_827delG p.G276fs*87 Deletion - Frameshift Stomach COSM4665203 BAZ1A c.4200A>G p.Q1400Q Substitution - coding silent Large_intestine COSM42016 TET2 c.4393C>T p.R1465* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1747289 PHC1 c.2660A>C p.N887T Substitution - Missense Urinary_tract COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3460987 ARID2 c.5380G>T p.E1794* Substitution - Nonsense Skin COSM3615217 PRDM9 c.1482G>T p.M494I Substitution - Missense Skin COSM3626162 BRPF3 c.1201C>T p.P401S Substitution - Missense Skin COSM4802448 IDH2 c.809T>C p.F270S Substitution - Missense Liver COSM2834950 CHD9 c.8025C>A p.A2675A Substitution - coding silent Large_intestine COSM3349519 RING1 c.998G>A p.G333D Substitution - Missense Large_intestine COSM5006566 PBRM1 c.?_?del? p.?fs*? Deletion - Frameshift Kidney COSM1125887 BRWD3 c.763G>T p.A255S Substitution - Missense Endometrium COSM3736469 MYST3 c.401T>C p.L134S Substitution - Missense Soft_tissue COSM4771049 CARM1 c.1628T>C p.I543T Substitution - Missense Pleura COSM3307028 HDAC9 c.480G>A p.T160T Substitution - coding silent Skin COSM4694077 MYST1 c.881_882insG p.A296fs*43 Insertion - Frameshift Large_intestine COSM1158959 PRDM1 c.517_523delCACTACC p.H173fs*6 Deletion - Frameshift Pancreas COSM912519 RERE c.2071C>T p.R691C Substitution - Missense Stomach COSM4440698 TBL1XR1 c.1335G>T p.V445V Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM226172 PHF14 c.1658C>G p.S553C Substitution - Missense Skin COSM3742621 SETBP1 c.1278G>A p.A426A Substitution - coding silent Liver COSM1026049 NCOA6 c.5925T>G p.T1975T Substitution - coding silent Endometrium COSM291419 PRDM9 c.2179C>T p.R727W Substitution - Missense Large_intestine COSM289942 KMT2C c.2447_2448insA p.Y816fs*1 Insertion - Frameshift Large_intestine COSM3879549 KMT2C c.9202C>T p.Q3068* Substitution - Nonsense Stomach COSM4659179 ACTR6 c.733delA p.K246fs*12 Deletion - Frameshift Large_intestine COSM4445211 HNF1A c.1720A>G p.S574G Substitution - Missense Large_intestine COSM1169642 BAP1 c.2110_2111insG p.V704fs*13 Insertion - Frameshift Kidney COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM1605258 RSF1 c.3016A>G p.N1006D Substitution - Missense Liver COSM3827757 NSD1 c.5763C>G p.H1921Q Substitution - Missense Breast COSM4031509 PRDM16 c.692G>A p.R231H Substitution - Missense Stomach COSM5413318 ARID2 c.2879T>C p.V960A Substitution - Missense Skin COSM79962 HDAC6 c.439C>T p.L147L Substitution - coding silent Ovary COSM3705048 ASH1L c.7142A>G p.D2381G Substitution - Missense Liver COSM1109603 KDM4C c.2343G>A p.A781A Substitution - coding silent Bone COSM3727435 MYST3 c.4736G>A p.G1579E Substitution - Missense Skin COSM5719013 BAHCC1 c.2378C>T p.P793L Substitution - Missense Skin COSM2804938 BAHCC1 c.1935G>A p.V645V Substitution - coding silent Large_intestine COSM4134463 NCOA6 c.3706G>T p.E1236* Substitution - Nonsense Thyroid COSM4694051 KAT5 c.1011T>C p.I337I Substitution - coding silent Large_intestine COSM5986628 KDM6A c.579_580insCGGC p.L194fs*4 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4519034 CBX2 c.925_926CC>TT p.P309L Substitution - Missense Skin COSM110112 KDM4A c.454C>T p.R152W Substitution - Missense Stomach COSM4169554 DNMT3A c.? p.W860fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM3749412 BPTF c.3646G>A p.D1216N Substitution - Missense Large_intestine COSM3812820 CHD4 c.4528G>C p.E1510Q Substitution - Missense Breast COSM2270914 MGA c.7816_7832del17 p.D2606fs*3 Deletion - Frameshift Large_intestine COSM1439159 BRD9 c.584C>T p.T195M Substitution - Missense Large_intestine COSM3980319 ASXL3 c.686A>C p.K229T Substitution - Missense Oesophagus COSM1067737 NIPBL c.7937G>A p.R2646Q Substitution - Missense Endometrium COSM4927979 MGA c.2649T>C p.S883S Substitution - coding silent Liver COSM4825491 TCF20 c.4534G>A p.E1512K Substitution - Missense Cervix COSM5820297 PRDM10 c.3392A>G p.Q1131R Substitution - Missense Liver COSM3445288 PRDM10 c.3063C>T p.S1021S Substitution - coding silent Skin COSM1640116 ARID4A c.1259delA p.D423fs*2 Deletion - Frameshift Large_intestine COSM3781109 MECOM c.1197A>G p.T399T Substitution - coding silent Pancreas COSM1449422 KMT2C c.8389_8390delAA p.K2797fs*11 Deletion - Frameshift Stomach COSM225885 KMT2C c.1139G>T p.R380L Substitution - Missense Soft_tissue COSM5031232 STK31 c.2594G>A p.R865H Substitution - Missense Pancreas COSM4470935 SMARCA4 c.168C>T p.I56I Substitution - coding silent Skin COSM436926 MBTD1 c.375G>C p.M125I Substitution - Missense Breast COSM4008810 ORC1 c.2111C>T p.A704V Substitution - Missense Stomach COSM920617 TAF3 c.235G>T p.E79* Substitution - Nonsense Endometrium COSM360331 TRRAP c.8052C>G p.L2684L Substitution - coding silent Lung COSM3772495 SMARCA4 c.3774+1G>A p.? Unknown Pancreas COSM199165 TRRAP c.10456C>T p.R3486W Substitution - Missense Small_intestine COSM2920035 CREBBP c.1802G>A p.R601Q Substitution - Missense Large_intestine COSM4632311 CBX6 c.865G>A p.D289N Substitution - Missense Large_intestine COSM5720045 PBRM1 c.3588C>T p.F1196F Substitution - coding silent Skin COSM1203778 DMAP1 c.938C>A p.P313Q Substitution - Missense Large_intestine COSM5702545 ATRX c.6574C>T p.Q2192* Substitution - Nonsense Central_nervous_system COSM5961078 SP140_ENST00000392045 c.1821G>C p.Q607H Substitution - Missense Breast COSM4569150 ZMYM4 c.1549T>G p.C517G Substitution - Missense Skin COSM221263 MUM1 c.2086G>T p.E696* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5762892 KMT2A c.2131A>G p.I711V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4444392 SETD1B c.748G>A p.A250T Substitution - Missense Large_intestine COSM424704 TDRD5 c.2368G>A p.D790N Substitution - Missense Breast COSM5487582 NCOR1 c.3082C>T p.R1028* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1716635 ATRX c.1273_1274delAA p.K425fs*8 Deletion - Frameshift Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41989 TET2 c.4440_4440delC p.S1481fs*90 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4136247 BAZ1A c.4009C>T p.R1337C Substitution - Missense Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM187703 MGA c.7450C>T p.R2484W Substitution - Missense Prostate COSM1416320 CBX7 c.555G>A p.A185A Substitution - coding silent Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5796381 HDAC6 c.1926G>A p.R642R Substitution - coding silent Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5714472 ACTB c.131T>C p.M44T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4882464 L3MBTL2 c.1352G>T p.C451F Substitution - Missense Upper_aerodigestive_tract COSM5020145 MYST3 c.1488T>C p.V496V Substitution - coding silent Soft_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4448189 UHRF1 c.1371C>T p.P457P Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM278971 ARID2 c.940C>T p.R314C Substitution - Missense Skin COSM1114767 SMARCA1 c.2978G>A p.R993Q Substitution - Missense Endometrium COSM3364328 BAZ2B c.1680T>A p.H560Q Substitution - Missense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1179316 MTA2 c.1232A>G p.E411G Substitution - Missense Prostate COSM693888 KDM5A c.790C>T p.R264* Substitution - Nonsense Lung COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM3108934 GTF3C1 c.1350C>T p.S450S Substitution - coding silent Large_intestine COSM315105 SETBP1 c.4244G>T p.C1415F Substitution - Missense Soft_tissue COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM1677417 KDM2B c.2305G>T p.D769Y Substitution - Missense Ovary COSM2866418 TRRAP c.18A>T p.T6T Substitution - coding silent Large_intestine COSM53215 ASXL1 c.4127_4128insG p.P1377fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3394972 TRRAP c.7057G>A p.V2353M Substitution - Missense Soft_tissue COSM1755550 ATAD2 c.3134C>T p.T1045I Substitution - Missense Urinary_tract COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM33732 IDH2 c.515G>T p.R172M Substitution - Missense Bone COSM30431 ATF7IP c.3804G>A p.Q1268Q Substitution - coding silent Lung COSM6005435 HCFC1 c.4393G>A p.A1465T Substitution - Missense Prostate COSM342752 TRDMT1 c.1053C>G p.L351L Substitution - coding silent Lung COSM5741938 DIDO1 c.6556A>T p.R2186W Substitution - Missense Small_intestine COSM5800026 SIRT2 c.738T>A p.C246* Substitution - Nonsense Breast COSM3557162 MSL3 c.886G>A p.E296K Substitution - Missense Skin COSM4529383 BRDT c.1595G>A p.R532Q Substitution - Missense Skin COSM302138 EP400 c.8703C>T p.N2901N Substitution - coding silent Central_nervous_system COSM5018175 CLOCK c.2278_2280delCAG p.Q760delQ Deletion - In frame Bone COSM13922 SMARCA5 c.457G>A p.E153K Substitution - Missense Skin COSM4167886 NCOA3 c.2669G>C p.R890T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM51467 ARID1A c.2107_2107delC p.A704fs*38 Deletion - Frameshift Ovary COSM3990639 MBD5 c.3832G>A p.E1278K Substitution - Missense Kidney COSM3859832 JARID2 c.1470G>A p.P490P Substitution - coding silent Stomach COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34039 IDH2 c.514A>T p.R172W Substitution - Missense Central_nervous_system COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM22640 MEN1 c.354_356delGAA p.K119del Deletion - In frame Parathyroid COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43420 TET2 c.4546C>T p.R1516* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM85923 ASXL1 c.1934_1934delG p.G645fs*58 Deletion - Frameshift Large_intestine COSM51987 BAP1 c.1997_2005del9 p.R666_H669>N Complex - deletion inframe Eye COSM52980 EZH2 c.2069G>A p.R690H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM77941 KDM2A c.2879G>A p.S960N Substitution - Missense Ovary COSM75580 NCOA6 c.3967C>T p.R1323W Substitution - Missense Large_intestine COSM107494 TRRAP c.2165C>T p.S722F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM231548 DNMT3A c.2409_2478del70 p.R803fs*5 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM133536 CBX4 c.956_957AG>TC p.K319I Substitution - Missense Ovary COSM148423 SETBP1 c.3301G>A p.V1101I Substitution - Missense Soft_tissue COSM164774 TAF1 c.569C>A p.S190Y Substitution - Missense Breast COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Prostate COSM255141 MEN1 c.1091_1099del9 p.F364_V367>L Complex - deletion inframe Parathyroid COSM255878 SMARCA4 c.3694G>T p.G1232C Substitution - Missense Central_nervous_system COSM255467 JHDM1D c.845A>C p.H282P Substitution - Missense Central_nervous_system COSM301382 KAT6B c.2790G>A p.A930A Substitution - coding silent Large_intestine COSM312888 KMT2C c.12138A>T p.K4046N Substitution - Missense Lung COSM315858 TDRD6 c.502G>T p.G168W Substitution - Missense Soft_tissue COSM303446 TRIM24 c.1461G>C p.R487S Substitution - Missense Central_nervous_system COSM332183 TRDMT1 c.463G>T p.G155C Substitution - Missense Lung COSM377506 MYST2 c.807G>A p.K269K Substitution - coding silent Lung COSM390322 MYST3 c.4720G>T p.G1574C Substitution - Missense Lung COSM424059 ASH1L c.6224-2_6224delAGA p.? Unknown Breast COSM424065 ASH1L c.1366C>G p.L456V Substitution - Missense Breast COSM414126 PRDM2 c.2996C>A p.S999Y Substitution - Missense Urinary_tract COSM435385 CHD9 c.5796G>A p.R1932R Substitution - coding silent Breast COSM450266 PRDM1 c.1644C>T p.F548F Substitution - coding silent Breast COSM693726 KMT2D c.15711G>C p.E5237D Substitution - Missense Lung COSM954001 MTA1 c.1000G>A p.D334N Substitution - Missense Large_intestine COSM1049012 SETD5_ENST00000402198 c.4220C>T p.A1407V Substitution - Missense Endometrium COSM1017640 SP100 c.420T>A p.I140I Substitution - coding silent Endometrium COSM940064 KMT2D c.4058T>G p.L1353W Substitution - Missense Endometrium COSM1028981 DIDO1 c.3218C>T p.A1073V Substitution - Missense Endometrium COSM756011 FMR1 c.1862T>A p.V621E Substitution - Missense Lung COSM757654 ZMYM3 c.144T>A p.P48P Substitution - coding silent Lung COSM744149 PHF14 c.205G>T p.E69* Substitution - Nonsense Lung COSM748347 TRRAP c.2718G>A p.L906L Substitution - coding silent Skin COSM1692828 PBRM1 c.2200A>G p.N734D Substitution - Missense Skin COSM1691882 IDH1 c.412C>T p.Q138* Substitution - Nonsense Skin COSM895819 POGZ c.2021G>A p.R674H Substitution - Missense Endometrium COSM923600 KMT2A c.10346A>C p.H3449P Substitution - Missense Endometrium COSM959478 SETD3 c.842A>G p.N281S Substitution - Missense Endometrium COSM1073646 SIRT5 c.881G>A p.G294E Substitution - Missense Endometrium COSM1075349 ARID1B c.3836C>T p.T1279M Substitution - Missense Endometrium COSM1113694 MSL3 c.555G>A p.E185E Substitution - coding silent Endometrium COSM1116479 FMR1 c.1831C>T p.R611C Substitution - Missense Endometrium COSM1128705 KAT2A c.375C>A p.N125K Substitution - Missense Prostate COSM1103009 TDRD7 c.1796C>A p.T599N Substitution - Missense Endometrium COSM1083694 MLL5 c.5508G>T p.Q1836H Substitution - Missense Biliary_tract COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1233552 ZMYND11 c.1238G>A p.R413Q Substitution - Missense Large_intestine COSM1200636 CDYL2 c.235C>T p.R79C Substitution - Missense Large_intestine COSM1180737 SIRT1 c.760delA p.I256fs*2 Deletion - Frameshift Large_intestine COSM1200994 CHD6 c.2428C>T p.R810C Substitution - Missense Stomach COSM1161640 PHIP c.609T>G p.D203E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1161667 KMT2C c.6317A>T p.N2106I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1285104 GABRG1 c.682_683GC>AA p.A228N Substitution - Missense Autonomic_ganglia COSM1392257 LMNB2 c.1317C>T p.S439S Substitution - coding silent Large_intestine COSM1360391 ATF7IP c.952_953insA p.N320fs*4 Insertion - Frameshift Large_intestine COSM1625591 FMR1 c.843T>C p.F281F Substitution - coding silent Liver COSM1620267 NIPBL c.2965A>G p.I989V Substitution - Missense Liver COSM1581236 KMT2C c.10199G>A p.R3400H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1578716 ATF7IP c.1855T>C p.L619L Substitution - coding silent Meninges COSM1634215 NIPBL c.6042A>G p.K2014K Substitution - coding silent Liver COSM1644345 PHF20 c.160_161insA p.Y54fs*1 Insertion - Frameshift Salivary_gland COSM1685759 MBD1 c.335delC p.P112fs*73 Deletion - Frameshift Skin COSM1720667 TDRD3 c.1470C>T p.F490F Substitution - coding silent Skin COSM1729663 MSL3 c.412A>C p.N138H Substitution - Missense Liver COSM1754849 TDRD6 c.4292C>G p.S1431C Substitution - Missense Urinary_tract COSM2834924 CHD9 c.6771G>A p.S2257S Substitution - coding silent Prostate COSM2894226 ATF2 c.558G>A p.Q186Q Substitution - coding silent Upper_aerodigestive_tract COSM3237317 KDM3B c.2405G>A p.R802Q Substitution - Missense Large_intestine COSM3236604 HCFC1 c.634A>G p.M212V Substitution - Missense Large_intestine COSM3379678 ZMYM3 c.1097C>T p.S366L Substitution - Missense Large_intestine COSM3414283 TAF1 c.4748A>T p.N1583I Substitution - Missense Oesophagus COSM3398452 KDM2B c.839G>A p.R280H Substitution - Missense Central_nervous_system COSM3482142 RBBP5 c.1215C>T p.A405A Substitution - coding silent Skin COSM3493334 BRDT c.1558C>T p.L520L Substitution - coding silent Skin COSM3474956 ASH1L c.6988G>A p.E2330K Substitution - Missense Skin COSM3636553 KMT2C c.948C>T p.T316T Substitution - coding silent Skin COSM3633854 TRIM24 c.1754C>T p.S585F Substitution - Missense Skin COSM3596989 ATXN7 c.1242G>A p.P414P Substitution - coding silent Skin COSM3558103 PHF6 c.903C>T p.Y301Y Substitution - coding silent Skin COSM3699883 BMI1 c.317-3T>C p.? Unknown Liver COSM3694130 BRD1 c.2348C>T p.A783V Substitution - Missense Large_intestine COSM3705811 ZMYM4 c.1436A>G p.N479S Substitution - Missense Liver COSM3720001 CHD6 c.6641A>T p.E2214V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3722551 KMT2D c.6669G>T p.G2223G Substitution - coding silent Liver COSM3714558 DHX30 c.3564G>T p.V1188V Substitution - coding silent Upper_aerodigestive_tract COSM3715241 CHD1 c.1538C>A p.T513K Substitution - Missense Upper_aerodigestive_tract COSM3726219 MGA c.2863G>C p.V955L Substitution - Missense Lung COSM3768016 PRDM8 c.906C>T p.P302P Substitution - coding silent Liver COSM3799934 PRDM15 c.340C>T p.R114W Substitution - Missense Urinary_tract COSM3859978 ARID1B c.3794G>T p.G1265V Substitution - Missense Stomach COSM3866548 TDRD1 c.1856G>A p.W619* Substitution - Nonsense Skin COSM3828005 NIPBL c.3301G>T p.E1101* Substitution - Nonsense Breast COSM3828970 NCOA7 c.580G>A p.D194N Substitution - Missense Breast COSM3883736 TRRAP c.5574C>G p.D1858E Substitution - Missense Stomach COSM3871739 KMT2D c.1847C>T p.P616L Substitution - Missense Skin COSM3973896 ATRX c.6080T>C p.L2027P Substitution - Missense Central_nervous_system COSM4041985 ARID2 c.928C>T p.R310C Substitution - Missense Stomach COSM4041990 ARID2 c.3149G>C p.G1050A Substitution - Missense Stomach COSM3994210 NSD1 c.6651G>T p.E2217D Substitution - Missense Kidney COSM3989881 DOT1L c.2355G>A p.L785L Substitution - coding silent Kidney COSM4092258 SP140_ENST00000392045 c.1395A>G p.P465P Substitution - coding silent Stomach COSM4105510 MORF4L2 c.378T>G p.P126P Substitution - coding silent Stomach COSM4101915 DNMT3L c.943G>A p.G315R Substitution - Missense Stomach COSM4067500 MYST2 c.191C>A p.S64Y Substitution - Missense Stomach COSM4285224 UHRF1 c.2016G>C p.A672A Substitution - coding silent Pancreas COSM4384334 KMT2C c.5065delG p.E1689fs*28 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4385095 ASXL1 c.2209delG p.V737fs*7 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4385127 ASXL1 c.3512delG p.A1172fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4513909 KMT2D c.8741C>T p.S2914F Substitution - Missense Skin COSM4589446 HDAC6 c.2237G>T p.G746V Substitution - Missense Bone COSM4460544 PRDM2 c.1170C>T p.F390F Substitution - coding silent Skin COSM4478510 BAHD1 c.2245C>T p.H749Y Substitution - Missense Skin COSM4478974 PRDM9 c.2282C>T p.S761L Substitution - Missense Skin COSM4411791 NSD1 c.6078C>T p.N2026N Substitution - coding silent Oesophagus COSM4725905 SHPRH c.4233T>C p.L1411L Substitution - coding silent Large_intestine COSM4767440 ATRX c.7090C>T p.L2364F Substitution - Missense Biliary_tract COSM4672106 CHD9 c.1598C>T p.A533V Substitution - Missense Large_intestine COSM4689729 HDAC9 c.2043G>T p.E681D Substitution - Missense Large_intestine COSM4655014 HDAC8 c.500G>A p.R167Q Substitution - Missense Large_intestine COSM4606367 PHF6 c.385C>T p.R129* Substitution - Nonsense Kidney COSM4794621 PRDM9 c.696G>A p.K232K Substitution - coding silent Liver COSM4894310 PRDM9 c.2576C>T p.P859L Substitution - Missense Skin COSM4891012 TP53BP1 c.4181C>T p.T1394M Substitution - Missense Upper_aerodigestive_tract COSM4929388 SIRT2 c.250G>A p.G84R Substitution - Missense Liver COSM4852696 SETD5_ENST00000402198 c.312C>T p.L104L Substitution - coding silent Cervix COSM4849076 NSD1 c.2340G>C p.S780S Substitution - coding silent Cervix COSM4853467 GTF3C1 c.5542G>A p.E1848K Substitution - Missense Upper_aerodigestive_tract COSM4949849 ATRX c.3307A>T p.K1103* Substitution - Nonsense Liver COSM4960400 RTF1 c.269G>A p.R90K Substitution - Missense Liver COSM4971212 KDM3B c.2452_2460delCTGTCAGAT p.L821_D823delLSD Deletion - In frame Central_nervous_system COSM5057844 EP300 c.1880C>T p.A627V Substitution - Missense Stomach COSM5095793 MBD1 c.757C>T p.R253C Substitution - Missense Large_intestine COSM5048610 UHRF1 c.855C>T p.I285I Substitution - coding silent Oesophagus COSM5387626 BAHCC1 c.1266C>T p.D422D Substitution - coding silent Skin COSM5384987 CHD9 c.4610C>G p.A1537G Substitution - Missense Skin COSM5518330 BAZ2B c.5293+7A>G p.? Unknown Biliary_tract COSM5475853 GTF3C1 c.477C>G p.Y159* Substitution - Nonsense Large_intestine COSM5622655 KDM1B c.216-1G>C p.? Unknown Oesophagus COSM5645452 EPC2 c.1621G>C p.E541Q Substitution - Missense Oesophagus COSM5650568 DHX30 c.2203G>A p.E735K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5760573 ATRX c.5787-1G>C p.? Unknown Central_nervous_system COSM5748960 ZMYM3 c.2206C>T p.R736C Substitution - Missense Pancreas COSM5611252 DNMT3A c.2228_2229CC>TT p.P743L Substitution - Missense Skin COSM5576860 NCOA5 c.693C>T p.F231F Substitution - coding silent Skin COSM5595405 TAF1L c.1628C>T p.S543F Substitution - Missense Skin COSM5769064 ZMYND8 c.568-9C>G p.? Unknown Breast COSM5659884 GLYATL1 c.202delG p.N69fs*27 Deletion - Frameshift Soft_tissue COSM5658241 CREBBP c.3610-1G>T p.? Unknown Soft_tissue COSM5785898 CHD8 c.5986C>A p.P1996T Substitution - Missense Breast COSM5783573 TAF1 c.1226A>T p.H409L Substitution - Missense Breast COSM5789963 DNMT1 c.2789G>T p.G930V Substitution - Missense Breast COSM5834941 PHF15 c.1233_1234delTG p.E412fs*3 Deletion - Frameshift Breast COSM5944483 DNMT3A c.1305_1306insT p.Y436fs*9 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5929794 ZBTB4 c.1183C>T p.L395F Substitution - Missense Skin COSM5954373 SETD2 c.2962C>T p.H988Y Substitution - Missense Upper_aerodigestive_tract COSM5996563 TDRD6 c.2765G>A p.C922Y Substitution - Missense Prostate COSM5984556 TAF1 c.1802C>T p.P601L Substitution - Missense Upper_aerodigestive_tract COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5574291 ASXL1 c.? p.G646fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1716803 TET2 c.? p.S714* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5347226 ARID1A c.?_?ins? p.A54fs*? Insertion - Frameshift Endometrium COSM53051 TET2 c.? p.S1286P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53113 TET2 c.? p.R1216Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1228837 TDRD6 c.1003T>C p.F335L Substitution - Missense Large_intestine COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM4788109 KMT2A c.2863G>A p.A955T Substitution - Missense Liver COSM3724482 ARID2 c.3065_3065delC p.P1022fs*38 Deletion - Frameshift Large_intestine COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM1442422 KDM1B c.682G>T p.G228C Substitution - Missense Large_intestine COSM2243406 RERE c.4556C>T p.A1519V Substitution - Missense Large_intestine COSM5599297 CHD1 c.978C>T p.S326S Substitution - coding silent Skin COSM86082 KMT2C c.2418C>G p.S806S Substitution - coding silent Soft_tissue COSM4384626 KMT2A c.11283C>A p.H3761Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1751939 HDAC10 c.797C>G p.S266* Substitution - Nonsense Urinary_tract COSM5516735 CHD9 c.2373+2T>C p.? Unknown Biliary_tract COSM5554293 RAG2 c.185T>C p.F62S Substitution - Missense Prostate COSM1371642 UBR7 c.470T>A p.V157D Substitution - Missense Large_intestine COSM3738482 TET2 c.? p.P399fs*44 Frameshift Haematopoietic_and_lymphoid_tissue COSM4991220 SMARCA4 c.809C>T p.P270L Substitution - Missense Skin COSM1466198 FMR1 c.797G>A p.G266E Substitution - Missense Large_intestine COSM3508909 SRCAP c.5590G>A p.A1864T Substitution - Missense Skin COSM3642749 TRRAP c.1577C>T p.P526L Substitution - Missense Skin COSM3410254 NIPBL c.8390C>T p.A2797V Substitution - Missense Oesophagus COSM230133 KMT2C c.1173C>A p.C391* Substitution - Nonsense Central_nervous_system COSM230133 KMT2C c.1173C>A p.C391* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1495173 PRDM15 c.1312C>T p.R438W Substitution - Missense Kidney COSM1642603 BRD8 c.440+1G>A p.? Unknown Stomach COSM913236 BRDT c.1358A>C p.E453A Substitution - Missense Endometrium COSM41644 TET2 c.1648C>T p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3975487 PRDM9 c.2490G>A p.K830K Substitution - coding silent Central_nervous_system COSM3818087 CHD9 c.3979G>C p.D1327H Substitution - Missense Breast COSM2069239 RNF17 c.1026G>A p.P342P Substitution - coding silent Pancreas COSM4570453 BRDT c.2730T>C p.R910R Substitution - coding silent Skin COSM5770784 KIAA2026_ENST00000399933 c.4656G>A p.P1552P Substitution - coding silent Breast COSM5506828 MECOM c.1800G>C p.L600L Substitution - coding silent Biliary_tract COSM212714 MBD2 c.624C>G p.F208L Substitution - Missense Breast COSM3403141 BPTF c.2003A>T p.Q668L Substitution - Missense Central_nervous_system COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Prostate COSM249229 TET2 c.1567G>T p.G523* Substitution - Nonsense Kidney COSM1444905 TDRD6 c.4550delA p.M1520fs*1 Deletion - Frameshift Central_nervous_system COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM4411206 SCMH1 c.1058C>T p.A353V Substitution - Missense Kidney COSM4742959 ZMYND11 c.904G>T p.G302C Substitution - Missense Large_intestine COSM914356 ASXL1 c.? p.Q748fs*24 Frameshift Haematopoietic_and_lymphoid_tissue COSM2874583 NCOA2 c.3200A>G p.H1067R Substitution - Missense Large_intestine COSM3706557 MGA c.4022A>G p.D1341G Substitution - Missense Liver COSM1385956 PHF23 c.726delC p.S243fs*24 Deletion - Frameshift Large_intestine COSM221079 KMT2D c.3316_3317delAT p.M1106fs*52 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1082909 ACTL6B c.1176C>T p.I392I Substitution - coding silent Skin COSM5609430 KMT2A c.7822G>A p.E2608K Substitution - Missense Skin COSM1161451 FXR1 c.1554G>C p.M518I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1688524 POGZ c.1648G>A p.E550K Substitution - Missense Skin COSM3479313 TDRD5 c.2190G>A p.L730L Substitution - coding silent Skin COSM284217 PRDM10 c.790G>T p.E264* Substitution - Nonsense Large_intestine COSM1114815 SMARCA1 c.524C>A p.P175H Substitution - Missense Endometrium COSM5752239 KMT2C c.7478delC p.P2493fs*22 Deletion - Frameshift Breast COSM5126940 SETBP1 c.1677G>A p.P559P Substitution - coding silent Pancreas COSM944179 AICDA c.380G>A p.R127Q Substitution - Missense Endometrium COSM147495 KMT2D c.11700A>G p.P3900P Substitution - coding silent Stomach COSM221108 KMT2D c.9930+2T>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1666833 CBX4 c.1514T>C p.V505A Substitution - Missense Large_intestine COSM5610616 SMARCA4 c.4597_4599delTGC p.C1533delC Deletion - In frame Skin COSM1483713 NCOA3 c.3741_3749delGCAGCAGCA p.Q1274_Q1276delQQQ Deletion - In frame Stomach COSM1348081 ERCC6 c.1483G>A p.E495K Substitution - Missense Large_intestine COSM87001 DNMT3A c.2644C>A p.R882S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5377600 POGZ c.2101C>A p.P701T Substitution - Missense Skin COSM1481992 MBD5 c.2205C>T p.N735N Substitution - coding silent Breast COSM52832 PBRM1 c.4045delC p.L1349fs*35 Deletion - Frameshift Kidney COSM1359477 KDM2B c.2063G>T p.S688I Substitution - Missense Large_intestine COSM1755061 SND1 c.1685G>A p.R562K Substitution - Missense Urinary_tract COSM972490 CTCF c.1342C>T p.R448* Substitution - Nonsense Endometrium COSM1163651 KMT2C c.11040delA p.E3681fs*24 Deletion - Frameshift Pancreas COSM1399859 EPC2 c.1140G>T p.Q380H Substitution - Missense Large_intestine COSM1375552 CHD2 c.3725delA p.K1245fs*4 Deletion - Frameshift Large_intestine COSM4534244 BRPF1 c.2067G>A p.E689E Substitution - coding silent Skin COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1177418 SMYD1 c.99C>T p.I33I Substitution - coding silent Endometrium COSM4627241 MTA1 c.1487C>T p.A496V Substitution - Missense Large_intestine COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4095551 SMYD5 c.207T>C p.R69R Substitution - coding silent Stomach COSM274165 BRD8 c.1822T>C p.S608P Substitution - Missense Large_intestine COSM919616 SIRT1 c.1558G>T p.E520* Substitution - Nonsense Large_intestine COSM1615693 NCOA3 c.3212A>C p.E1071A Substitution - Missense Liver COSM2161493 SFMBT2 c.364G>A p.D122N Substitution - Missense Stomach COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1469185 ZMYM3 c.252delG p.L85fs*28 Deletion - Frameshift Large_intestine COSM924939 PRDM10 c.3457A>G p.I1153V Substitution - Missense Endometrium COSM4694058 MYST3 c.2977_2979delGAG p.E993delE Deletion - In frame Soft_tissue COSM1361688 ARID2 c.1616C>A p.S539Y Substitution - Missense Large_intestine COSM5407033 KMT2C c.14436G>A p.R4812R Substitution - coding silent Skin COSM3529592 BRD4 c.1410C>T p.S470S Substitution - coding silent Skin COSM5576049 KAT6B c.2143G>T p.D715Y Substitution - Missense Stomach COSM1008166 BAZ2B c.833G>T p.S278I Substitution - Missense Endometrium COSM1583045 TET2 c.? p.K948fs*23 Frameshift Haematopoietic_and_lymphoid_tissue COSM1672542 PHF3 c.4718T>A p.L1573* Substitution - Nonsense Ovary COSM5346988 ARID1A c.1717C>G p.L573V Substitution - Missense Endometrium COSM4713931 PHF15 c.318C>T p.L106L Substitution - coding silent Large_intestine COSM4939559 PRDM1 c.1500A>T p.A500A Substitution - coding silent Liver COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3212706 GTF3C4 c.1455C>T p.C485C Substitution - coding silent Pancreas COSM4489883 KDM5C c.3545C>T p.S1182F Substitution - Missense Skin COSM6014924 KMT2D c.12801G>A p.K4267K Substitution - coding silent Skin COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5348712 PHF10 c.354_355insT p.A119fs*5 Insertion - Frameshift Liver COSM3674427 PRDM9 c.2263C>T p.R755W Substitution - Missense Prostate COSM3438389 ERCC6 c.1696T>C p.L566L Substitution - coding silent Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3787237 CDYL2 c.639A>G p.G213G Substitution - coding silent Pancreas COSM4453067 HDAC9 c.2483A>G p.N828S Substitution - Missense Skin COSM5999069 HELLS c.1458T>C p.R486R Substitution - coding silent Prostate COSM52011 TET2 c.? p.S282F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4580883 LMNB2 c.1630C>T p.L544L Substitution - coding silent Bone COSM972467 CTCF c.334G>T p.E112* Substitution - Nonsense Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4626380 BRD3 c.630G>A p.S210S Substitution - coding silent Large_intestine COSM1377530 SETD1A c.2115delC p.G708fs*95 Deletion - Frameshift Biliary_tract COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM252979 CLOCK c.368delT p.L123fs*1 Deletion - Frameshift Large_intestine COSM5049000 PBRM1 c.2114A>G p.D705G Substitution - Missense Oesophagus COSM4383967 TET2 c.5508_5509delGG p.A1837fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3778511 ACTB c.24C>A p.L8L Substitution - coding silent Urinary_tract COSM3494291 MTA1 c.956C>T p.S319L Substitution - Missense Skin COSM5967213 MEN1 c.32_33insA p.F11fs*106 Insertion - Frameshift Salivary_gland COSM4766176 TET2 c.4396_4416del21 p.Q1466_K1472del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM1442450 HDGFL1 c.321G>A p.P107P Substitution - coding silent Large_intestine COSM1965082 KAT6B c.1141T>A p.C381S Substitution - Missense Upper_aerodigestive_tract COSM4685801 FTO c.965G>A p.R322Q Substitution - Missense Large_intestine COSM4124009 WHSC1 c.3291C>T p.I1097I Substitution - coding silent Stomach COSM5905746 CHD7 c.7609G>A p.E2537K Substitution - Missense Skin COSM98971 TRRAP c.355C>T p.R119C Substitution - Missense Stomach COSM5945129 EZH2 c.397T>A p.Y133N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1215962 MUM1 c.1549A>C p.I517L Substitution - Missense Large_intestine COSM3467849 RNF17 c.29C>T p.P10L Substitution - Missense Skin COSM5065036 TET2 c.4657C>T p.Q1553* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4797765 PRDM16 c.3477G>A p.E1159E Substitution - coding silent Liver COSM1473301 RBBP5 c.503C>T p.T168M Substitution - Missense Breast COSM4898430 CHD9 c.853A>C p.S285R Substitution - Missense Skin COSM5041291 NIPBL c.4228A>G p.T1410A Substitution - Missense Liver COSM1225367 SETD3 c.824A>G p.D275G Substitution - Missense Large_intestine COSM3389886 DIDO1 c.6547C>T p.R2183* Substitution - Nonsense Pancreas COSM51200 ASXL1 c.1888_1910del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5660785 KMT2D c.13710delG p.K4571fs*17 Deletion - Frameshift Soft_tissue COSM4999509 ING2 c.232C>A p.Q78K Substitution - Missense Pancreas COSM133018 ARID1A c.2357_2358insG p.S787fs*30 Insertion - Frameshift Stomach COSM87071 TET2 c.519_519delG p.P174fs*9 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5642308 WHSC1L1 c.146A>T p.Y49F Substitution - Missense Oesophagus COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87161 TET2 c.4138C>T p.H1380Y Substitution - Missense Oesophagus COSM1076447 HDGFL1 c.32G>A p.S11N Substitution - Missense Endometrium COSM4015506 SFMBT2 c.1376T>A p.M459K Substitution - Missense Stomach COSM5598485 MBD5 c.2929C>T p.P977S Substitution - Missense Skin COSM5025052 KMT2A c.7136G>A p.R2379Q Substitution - Missense Breast COSM1675303 SIRT1 c.2059G>A p.E687K Substitution - Missense Large_intestine COSM4032939 PHF21A c.1682G>A p.R561Q Substitution - Missense Stomach COSM689612 GLYATL1 c.565C>A p.P189T Substitution - Missense Lung COSM3536709 UHRF1 c.1287C>T p.N429N Substitution - coding silent Skin COSM78817 ZMYM2 c.3082G>A p.V1028I Substitution - Missense Ovary COSM127550 CBX6 c.735G>T p.P245P Substitution - coding silent Upper_aerodigestive_tract COSM5946075 KMT2D c.?_?del? p.?fs*? Deletion - Frameshift Urinary_tract COSM4400005 PHC3 c.459A>C p.Q153H Substitution - Missense Skin COSM4424163 EZH2 c.2008T>C p.F670L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3788786 ASH1L c.6574G>A p.D2192N Substitution - Missense Urinary_tract COSM5894195 ASH1L c.3197G>T p.S1066I Substitution - Missense Skin COSM3418419 TDRD5 c.1552C>T p.R518* Substitution - Nonsense Skin COSM389164 MORF4L1 c.850A>T p.I284F Substitution - Missense Lung COSM1610768 ZBTB4 c.1217A>T p.K406M Substitution - Missense Liver COSM3487575 ARID1A c.1632C>T p.H544H Substitution - coding silent Skin COSM5347231 ARID1A c.?_?ins? p.C2163fs*? Insertion - Frameshift Endometrium COSM1470749 UBR7 c.690G>A p.E230E Substitution - coding silent Prostate COSM4898483 MGA c.1058C>T p.S353F Substitution - Missense Skin COSM3762512 KMT2C c.8685G>A p.Q2895Q Substitution - coding silent Large_intestine COSM5781877 KDM4A c.587G>A p.S196N Substitution - Missense Breast COSM5980326 MBD6 c.1436C>G p.P479R Substitution - Missense Upper_aerodigestive_tract COSM4801063 ING1 c.313C>A p.Q105K Substitution - Missense Liver COSM198796 PHF2 c.1468delA p.K492fs*6 Deletion - Frameshift Large_intestine COSM80775 ZMYM6 c.669A>G p.K223K Substitution - coding silent Ovary COSM3659717 PHF2 c.2162C>T p.P721L Substitution - Missense Skin COSM1496169 BRD9 c.1434G>A p.E478E Substitution - coding silent Kidney COSM420408 KDM3B c.3749A>G p.E1250G Substitution - Missense Urinary_tract COSM484477 ZCWPW1 c.402C>T p.A134A Substitution - coding silent Kidney COSM1616094 PRDM15 c.257C>G p.P86R Substitution - Missense Liver COSM1179669 KMT2C c.943G>A p.G315S Substitution - Missense Liver COSM238934 BAHCC1 c.2366C>T p.P789L Substitution - Missense Prostate COSM1363045 SMARCC2 c.2590G>A p.A864T Substitution - Missense Large_intestine COSM1169652 PBRM1 c.2210_2211insG p.Y738fs*3 Insertion - Frameshift Kidney COSM1331037 ELP3 c.1385G>A p.R462H Substitution - Missense Breast COSM53014 EZH2 c.1992_1997delTAAATA p.K665_Y666del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM5946012 KMT2D c.10148G>C p.G3383A Substitution - Missense Urinary_tract COSM255647 CHD7 c.5533_5534insT p.G1845fs*5 Insertion - Frameshift Central_nervous_system COSM1193772 GTF3C1 c.5930G>T p.C1977F Substitution - Missense Lung COSM3631659 MLL5 c.4537G>A p.A1513T Substitution - Missense Skin COSM3691657 CBX1 c.544G>T p.D182Y Substitution - Missense Large_intestine COSM3796344 SMCHD1 c.1438C>G p.P480A Substitution - Missense Urinary_tract COSM4451302 PRDM9 c.114A>T p.E38D Substitution - Missense Skin COSM5783292 BAZ1B c.3007T>C p.L1003L Substitution - coding silent Breast COSM1211796 KDM5D c.4235C>A p.P1412H Substitution - Missense Large_intestine COSM5028200 PHF23 c.883C>G p.P295A Substitution - Missense Breast COSM679569 SMYD3 c.75G>A p.K25K Substitution - coding silent Lung COSM52949 DNMT3A c.? p.F909C Substitution - Missense Pleura COSM5881295 SMEK1 c.728C>T p.T243I Substitution - Missense Soft_tissue COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM934219 HCFC2 c.272T>C p.V91A Substitution - Missense Endometrium COSM6004914 BRD1 c.2342C>G p.P781R Substitution - Missense Prostate COSM1118763 SCML2 c.1159C>A p.P387T Substitution - Missense Endometrium COSM5998226 UHRF2 c.1880G>A p.R627Q Substitution - Missense Prostate COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM1087657 KMT2C c.956A>T p.D319V Substitution - Missense Endometrium COSM13393 MSH6 c.2836G>T p.E946* Substitution - Nonsense Large_intestine COSM3845408 ATRX c.2214C>G p.L738L Substitution - coding silent Breast COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Upper_aerodigestive_tract COSM1377031 GTF3C1 c.2027G>A p.R676Q Substitution - Missense Large_intestine COSM1663692 PRMT7 c.337A>T p.S113C Substitution - Missense Kidney COSM3756106 AP001011.3_ENST00000320876 c.174G>C p.A58A Substitution - coding silent Thyroid COSM1002781 TRIM28 c.1147G>A p.V383M Substitution - Missense Endometrium COSM4538192 PRDM9 c.2512G>A p.G838R Substitution - Missense Skin COSM2965373 KDM6A c.2171T>C p.I724T Substitution - Missense Upper_aerodigestive_tract COSM3816130 TP53BP1 c.5348G>C p.G1783A Substitution - Missense Breast COSM1309355 PBRM1 c.3973G>A p.D1325N Substitution - Missense Urinary_tract COSM4944106 RERE c.3917A>T p.E1306V Substitution - Missense Liver COSM5019273 PRDM1 c.2034G>A p.P678P Substitution - coding silent Soft_tissue COSM140099 CTCF c.1369C>T p.R457* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4586875 PHF3 c.5693G>A p.S1898N Substitution - Missense Bone COSM5882169 HCFC2 c.1010A>T p.K337I Substitution - Missense Skin COSM4492318 PRDM7 c.395C>T p.S132F Substitution - Missense Skin COSM1045662 SMARCC1 c.1714C>T p.R572* Substitution - Nonsense Endometrium COSM4385571 TET2 c.1683_1684insAA p.P562fs*7 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4603245 PCGF6 c.84_85insGCCTCC p.P28_V29insAS Insertion - In frame Upper_aerodigestive_tract COSM1644036 PHF16 c.1294_1295insA p.N432fs*10 Insertion - Frameshift Stomach COSM2758224 NCOA6 c.1095G>A p.T365T Substitution - coding silent Pancreas COSM3711329 PRDM16 c.3102C>A p.N1034K Substitution - Missense Upper_aerodigestive_tract COSM85098 KMT2C c.4441C>T p.R1481* Substitution - Nonsense Pancreas COSM4898602 PRMT10 c.533C>T p.S178F Substitution - Missense Skin COSM937145 EP400 c.2080G>A p.A694T Substitution - Missense Endometrium COSM1965199 KAT6B c.5967C>T p.L1989L Substitution - coding silent Large_intestine COSM4130428 AKAP1 c.1378T>A p.S460T Substitution - Missense Thyroid COSM985514 CHD3 c.4381C>T p.R1461C Substitution - Missense Endometrium COSM267170 PHC3 c.2852C>T p.A951V Substitution - Missense Large_intestine COSM3132312 WHSC1 c.1910C>T p.S637L Substitution - Missense Skin COSM5969937 BTAF1 c.4326G>A p.E1442E Substitution - coding silent Upper_aerodigestive_tract COSM162847 NCOR1 c.1135G>T p.E379* Substitution - Nonsense Breast COSM5761403 ARID1A c.2192_2193insC p.Q732fs*85 Insertion - Frameshift Pancreas COSM42039 TET2 c.3866G>T p.C1289F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2976786 PHF23 c.853C>T p.P285S Substitution - Missense Large_intestine COSM1388389 AP001011.3_ENST00000320876 c.4706C>T p.S1569L Substitution - Missense Large_intestine COSM383201 BAHCC1 c.2852A>G p.Q951R Substitution - Missense Endometrium COSM2158379 JMJD1C c.5797C>T p.L1933F Substitution - Missense Large_intestine COSM3937773 L3MBTL4 c.1494G>T p.Q498H Substitution - Missense Oesophagus COSM1684516 AKAP1 c.90delA p.G31fs*18 Deletion - Frameshift Large_intestine COSM5149617 BAHCC1 c.4825G>A p.A1609T Substitution - Missense Large_intestine COSM1228035 SUV39H1 c.1138G>A p.D380N Substitution - Missense Large_intestine COSM4101589 BRWD1 c.4779T>C p.C1593C Substitution - coding silent Stomach COSM1362055 KMT2D c.2955G>C p.R985R Substitution - coding silent Large_intestine COSM1711833 SMARCA4 c.4367C>T p.P1456L Substitution - Missense Skin COSM1125449 ATRX c.4259A>C p.K1420T Substitution - Missense Endometrium COSM677960 RBBP5 c.925A>T p.I309F Substitution - Missense Lung COSM3857086 PRDM13 c.2012G>A p.G671D Substitution - Missense Stomach COSM3692782 SIRT6 c.924C>G p.N308K Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4960038 SMYD3 c.564G>A p.E188E Substitution - coding silent Liver COSM346990 PHRF1 c.3272G>T p.R1091L Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM187703 MGA c.7450C>T p.R2484W Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1504168 PCGF6 c.270G>A p.L90L Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5564264 EHMT1 c.3539G>A p.R1180H Substitution - Missense Prostate COSM479003 L3MBTL2 c.1193C>A p.A398D Substitution - Missense Kidney COSM1187519 ASH2L c.1772A>T p.Y591F Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM471645 SRCAP c.8061A>T p.P2687P Substitution - coding silent Kidney COSM3452413 SUV420H1 c.341C>T p.S114L Substitution - Missense Skin COSM457985 TAF1 c.1753G>A p.G585R Substitution - Missense Breast COSM1226748 SMARCA2 c.3562G>A p.A1188T Substitution - Missense Large_intestine COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM87007 DNMT3A c.2711C>T p.P904L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4837068 PHF2 c.70G>C p.D24H Substitution - Missense Cervix COSM2833316 GLYR1 c.658T>G p.F220V Substitution - Missense Large_intestine COSM1336716 TDRD5 c.1901delT p.L636fs*16 Deletion - Frameshift Large_intestine COSM3722831 NSD1 c.6094T>C p.W2032R Substitution - Missense Upper_aerodigestive_tract COSM3596043 PHF7 c.234C>T p.F78F Substitution - coding silent Skin COSM278221 ZMYM4 c.1360C>T p.R454* Substitution - Nonsense Large_intestine COSM2150780 NCOR1 c.5152C>T p.R1718W Substitution - Missense Central_nervous_system COSM5388042 ASXL3 c.1513_1514AC>TT p.T505F Substitution - Missense Skin COSM4170413 KMT2D c.11209C>T p.Q3737* Substitution - Nonsense Cervix COSM4170099 TET2 c.2285_2286insC p.Q764fs*5 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4470457 KDM6A c.1661C>T p.S554F Substitution - Missense Skin COSM405189 SMARCA4 c.3475delG p.L1161fs*3 Deletion - Frameshift Large_intestine COSM4615765 HDAC2 c.33_34insA p.V12fs*8 Insertion - Frameshift Large_intestine COSM3877224 PHF14 c.2572T>C p.L858L Substitution - coding silent Stomach COSM3723035 PHF2 c.2955T>C p.S985S Substitution - coding silent Kidney COSM5140400 BAHCC1 c.2608G>A p.A870T Substitution - Missense Large_intestine COSM3778308 HDAC9 c.2139G>T p.Q713H Substitution - Missense Urinary_tract COSM387435 CLOCK c.2355T>A p.F785L Substitution - Missense Lung COSM1185373 ARID1A c.6404T>A p.I2135N Substitution - Missense Lung COSM5567957 PCGF2 c.857C>T p.S286F Substitution - Missense Prostate COSM6008903 KMT2A c.3751G>A p.D1251N Substitution - Missense Large_intestine COSM5633414 TAF1 c.5375G>C p.G1792A Substitution - Missense Oesophagus COSM181348 PRDM2 c.846A>T p.E282D Substitution - Missense Stomach COSM970586 CREBBP c.3299C>A p.A1100E Substitution - Missense Endometrium COSM3821634 L3MBTL4 c.1565G>A p.R522K Substitution - Missense Breast COSM3714781 WHSC1 c.2185C>T p.R729C Substitution - Missense Upper_aerodigestive_tract COSM1582830 SUV39H1 c.1133G>A p.R378H Substitution - Missense Stomach COSM3841457 C20orf20 c.546C>T p.V182V Substitution - coding silent Breast COSM1363339 MBD6 c.716C>T p.P239L Substitution - Missense Large_intestine COSM1363346 MBD6 c.2193_2194insC p.Q734fs*4 Insertion - Frameshift Large_intestine COSM745477 TIF1 c.1772C>T p.P591L Substitution - Missense Large_intestine COSM21300 TRRAP c.7323C>T p.F2441F Substitution - coding silent Large_intestine COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13837 ATRX c.2719C>T p.R907* Substitution - Nonsense Lung COSM35337 ASXL1 c.1830C>T p.G610G Substitution - coding silent Central_nervous_system COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM22656 MEN1 c.1034delC p.T346fs*22 Deletion - Frameshift Parathyroid COSM43442 TET2 c.5104C>T p.Q1702* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM94143 DNMT3A c.113G>A p.R38H Substitution - Missense Lung COSM141289 ERCC6 c.2138T>C p.M713T Substitution - Missense Upper_aerodigestive_tract COSM221070 KMT2D c.7994C>G p.S2665* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM224415 KDM5A c.4366G>A p.V1456I Substitution - Missense Skin COSM228247 PRDM16 c.3785G>A p.G1262E Substitution - Missense Skin COSM225086 NCOA3 c.1453C>T p.R485C Substitution - Missense Skin COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Liver COSM231558 DNMT3A c.1741T>A p.W581R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM251348 HNF1A c.689_713+6del31 p.? Unknown Liver COSM297068 PHF2 c.2961C>A p.T987T Substitution - coding silent Large_intestine COSM297202 PRDM2 c.4459delA p.V1490fs*74 Deletion - Frameshift Large_intestine COSM289704 KDM2B c.1376C>T p.S459L Substitution - Missense Large_intestine COSM315769 TAF1 c.4517C>T p.A1506V Substitution - Missense Large_intestine COSM307104 PRDM9 c.561G>A p.K187K Substitution - coding silent Central_nervous_system COSM306061 PHF6 c.821G>A p.R274Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM307729 BAP1 c.2028_2046del19 p.C676fs*10 Deletion - Frameshift Kidney COSM342795 HCFC2 c.680T>A p.L227* Substitution - Nonsense Lung COSM337043 SMARCA4 c.2011G>T p.E671* Substitution - Nonsense Lung COSM390324 NCOA2 c.1870G>A p.E624K Substitution - Missense Lung COSM397405 SFMBT2 c.2061A>C p.K687N Substitution - Missense Lung COSM396785 KMT2C c.2674G>A p.G892R Substitution - Missense Skin COSM393080 PHF21A c.1767C>T p.D589D Substitution - coding silent Lung COSM438519 SMARCA4 c.3768_3769delGG p.D1257fs*1 Deletion - Frameshift Breast COSM465609 EPC1 c.2008A>T p.M670L Substitution - Missense Kidney COSM473301 PHF23 c.725C>T p.P242L Substitution - Missense Skin COSM483611 ARID1B c.6293T>G p.V2098G Substitution - Missense Kidney COSM1048990 SETD5_ENST00000402198 c.1654A>G p.T552A Substitution - Missense Endometrium COSM939248 KDM5A c.2678G>A p.R893Q Substitution - Missense Endometrium COSM1026701 ACTR5 c.579G>A p.T193T Substitution - coding silent Skin COSM700636 MGA c.6698G>T p.R2233M Substitution - Missense Lung COSM725093 PRDM15 c.1383G>T p.K461N Substitution - Missense Lung COSM931019 KDM2A c.1725A>C p.K575N Substitution - Missense Endometrium COSM946202 RNF17 c.1297C>T p.R433W Substitution - Missense Skin COSM1602216 HDAC1 c.183T>A p.A61A Substitution - coding silent Liver COSM1041701 FXR1 c.1615G>T p.D539Y Substitution - Missense Endometrium COSM969913 SRCAP c.396C>T p.R132R Substitution - coding silent Endometrium COSM1109478 KIAA2026_ENST00000399933 c.1198T>C p.C400R Substitution - Missense Endometrium COSM1117725 HCFC1 c.3647C>T p.A1216V Substitution - Missense Endometrium COSM1100815 CHD7 c.3950G>A p.R1317H Substitution - Missense Endometrium COSM1163299 BRWD1 c.4113T>C p.N1371N Substitution - coding silent Pancreas COSM1207673 FXR1 c.943C>T p.R315* Substitution - Nonsense Large_intestine COSM1196512 EP300 c.4310C>T p.A1437V Substitution - Missense Lung COSM1266220 SMARCA2 c.3988G>A p.E1330K Substitution - Missense Oesophagus COSM1191071 SETD3 c.1148_1149insT p.L385fs*8 Insertion - Frameshift Lung COSM1190470 TCF20 c.551G>C p.R184T Substitution - Missense Lung COSM1604425 PRMT3 c.1151A>C p.D384A Substitution - Missense Liver COSM1314865 KIAA2026_ENST00000399933 c.471C>T p.F157F Substitution - coding silent Urinary_tract COSM1421140 FXR1 c.363_364insA p.N124fs*5 Insertion - Frameshift Stomach COSM1413034 DIDO1 c.686C>T p.A229V Substitution - Missense Large_intestine COSM1406984 ING5 c.137C>T p.A46V Substitution - Missense Large_intestine COSM1407098 DNMT3A c.2713C>T p.L905L Substitution - coding silent Large_intestine COSM1427016 PHF17 c.1320G>A p.L440L Substitution - coding silent Large_intestine COSM1583102 DNMT3A c.2114T>C p.I705T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1581806 TAF1L c.2803G>A p.E935K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1623355 TRRAP c.3962G>T p.R1321M Substitution - Missense Large_intestine COSM1642862 L3MBTL3 c.2287T>G p.F763V Substitution - Missense Stomach COSM1644766 MBD5 c.2660G>A p.S887N Substitution - Missense Salivary_gland COSM1677665 SETDB2 c.1621A>G p.S541G Substitution - Missense Large_intestine COSM1710679 BPTF c.6637C>T p.P2213S Substitution - Missense Skin COSM1719036 HDAC3 c.1098G>T p.L366L Substitution - coding silent Skin COSM1699415 TIF1 c.1334C>T p.S445L Substitution - Missense Skin COSM1732108 SETD2 c.229G>T p.E77* Substitution - Nonsense Kidney COSM2051950 SMYD3 c.510C>T p.I170I Substitution - coding silent Skin COSM2156557 SMARCA2 c.667_669delCAG p.Q238delQ Deletion - In frame Central_nervous_system COSM2157817 NCOA2 c.583_584insC p.S195fs*15 Insertion - Frameshift Central_nervous_system COSM2854093 PBRM1 c.2773A>C p.K925Q Substitution - Missense Large_intestine COSM2919923 CREBBP c.5552G>A p.R1851H Substitution - Missense Large_intestine COSM2966623 HDAC6 c.3376G>T p.G1126C Substitution - Missense Central_nervous_system COSM3013820 PRDM9 c.1397G>C p.R466T Substitution - Missense Skin COSM3358520 PBRM1 c.2622_2624delAAT p.K874_I875>N Complex - deletion inframe Kidney COSM3384103 SETD1B c.2179A>G p.M727V Substitution - Missense Pancreas COSM3396082 BAZ2A_ENST00000379441 c.4578G>T p.Q1526H Substitution - Missense Prostate COSM3479342 TDRD5 c.2700G>A p.V900V Substitution - coding silent Skin COSM3440086 SFMBT2 c.2496C>T p.F832F Substitution - coding silent Skin COSM3423651 CHD6 c.2809C>T p.R937* Substitution - Nonsense Large_intestine COSM3440603 KAT6B c.622C>T p.P208S Substitution - Missense Skin COSM3469421 TDRD3 c.1100C>T p.S367F Substitution - Missense Skin COSM3463537 BAZ2A_ENST00000379441 c.2145G>A p.K715K Substitution - coding silent Skin COSM3453560 RSF1 c.1249G>A p.E417K Substitution - Missense Skin COSM3639803 ACTB c.298G>A p.E100K Substitution - Missense Skin COSM3578884 SP140_ENST00000392045 c.351G>A p.R117R Substitution - coding silent Skin COSM3589871 MECOM c.1586C>T p.S529L Substitution - Missense Skin COSM3545291 DNMT3B c.369C>T p.S123S Substitution - coding silent Skin COSM3522199 ZBTB4 c.2980C>T p.P994S Substitution - Missense Skin COSM3663862 NCOA2 c.3704T>A p.L1235Q Substitution - Missense Liver COSM3692294 DNMT1 c.411G>A p.T137T Substitution - coding silent Large_intestine COSM3694639 SMC1A c.586C>T p.R196C Substitution - Missense Large_intestine COSM3684369 ZCWPW1 c.1428T>G p.I476M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3719354 SCML2 c.1079A>G p.Y360C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3709670 MSH6 c.1596T>C p.S532S Substitution - coding silent Liver COSM3756114 SMCHD1 c.1872A>G p.T624T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3772615 KDM5A c.2045C>T p.T682I Substitution - Missense Pancreas COSM3935780 KDM2B c.1549C>T p.R517C Substitution - Missense Oesophagus COSM3840183 KDM3A c.2007C>G p.I669M Substitution - Missense Breast COSM3822505 DOT1L c.718G>A p.V240M Substitution - Missense Breast COSM3913729 SCML2 c.1655G>A p.G552E Substitution - Missense Skin COSM4031009 ARID1A c.3377C>T p.S1126F Substitution - Missense Stomach COSM4003675 NCOA7 c.1195T>G p.S399A Substitution - Missense Bone COSM4047968 SETDB2 c.1798C>T p.R600* Substitution - Nonsense Stomach COSM4046307 MPHOSPH8 c.1792G>A p.D598N Substitution - Missense Stomach COSM4046359 ZMYM2 c.2581A>G p.T861A Substitution - Missense Stomach COSM3989225 SMARCD2 c.1388G>T p.R463M Substitution - Missense Kidney COSM4099096 NCOA3 c.1883C>T p.S628F Substitution - Missense Stomach COSM4115112 MECOM c.414+2T>C p.? Unknown Stomach COSM4120702 MINA c.629G>A p.S210N Substitution - Missense Stomach COSM4069230 PHF23 c.771A>G p.E257E Substitution - coding silent Stomach COSM4066515 KAT2A c.967C>T p.R323W Substitution - Missense Stomach COSM4135692 MEN1 c.1267T>C p.W423R Substitution - Missense Pancreas COSM4172093 CBX5 c.4G>A p.G2R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4187791 KDM5C c.1747-1G>C p.? Unknown Kidney COSM4385609 TET2 c.5119_5120insGCAG p.S1708fs*6 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4384868 CREBBP c.5234G>A p.W1745* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4412410 SMYD2 c.277A>G p.M93V Substitution - Missense Oesophagus COSM4597310 SMYD1 c.344A>G p.E115G Substitution - Missense Upper_aerodigestive_tract COSM4444149 ATAD2 c.834A>T p.E278D Substitution - Missense Pancreas COSM4429587 CHD8 c.3411T>C p.L1137L Substitution - coding silent Oesophagus COSM4568066 KDM4D c.1013_1014GT>AA p.R338Q Substitution - Missense Skin COSM4584414 DHX30 c.1725C>T p.L575L Substitution - coding silent Bone COSM4534515 SP140_ENST00000392045 c.2095G>A p.G699R Substitution - Missense Skin COSM4769351 BRD9 c.983+10G>A p.? Unknown Biliary_tract COSM4714007 PHF3 c.301A>G p.T101A Substitution - Missense Large_intestine COSM4677510 DIDO1 c.2607G>A p.P869P Substitution - coding silent Large_intestine COSM4612411 NCOA6 c.828_830delGCA p.Q285delQ Deletion - In frame Large_intestine COSM4624400 PRDM15 c.511G>T p.G171C Substitution - Missense Large_intestine COSM4776934 MYST3 c.1133C>T p.S378L Substitution - Missense Breast COSM4755913 BAZ2A c.3674G>A p.R1225Q Substitution - Missense Stomach COSM4759833 MTA1 c.2044C>T p.R682C Substitution - Missense Stomach COSM4746967 ZMYM4 c.591delT p.F199fs*71 Deletion - Frameshift Stomach COSM4755465 ACTR8 c.1790C>T p.T597I Substitution - Missense Stomach COSM4806514 KMT2C c.60G>A p.E20E Substitution - coding silent Liver COSM4798636 SMARCA5 c.1315G>A p.G439S Substitution - Missense Liver COSM4798810 SETD2 c.1017A>G p.T339T Substitution - coding silent Liver COSM4885039 TRRAP c.8912G>T p.S2971I Substitution - Missense Upper_aerodigestive_tract COSM4900557 JHDM1D c.2367G>A p.V789V Substitution - coding silent Skin COSM4901755 UHRF1 c.228C>T p.V76V Substitution - coding silent Skin COSM4846219 TDRD1 c.85G>C p.E29Q Substitution - Missense Cervix COSM4828805 UHRF2 c.619G>A p.V207I Substitution - Missense Cervix COSM4965285 PHF14 c.531C>T p.V177V Substitution - coding silent Pancreas COSM4990256 KMT2D c.6557G>A p.R2186H Substitution - Missense Skin COSM5017806 PHF3 c.2146delC p.S717fs*33 Deletion - Frameshift Soft_tissue COSM5009369 TAF1 c.4523C>A p.S1508Y Substitution - Missense Large_intestine COSM5057598 PRDM15 c.4132G>A p.A1378T Substitution - Missense Stomach COSM5064530 HCFC1 c.4092C>T p.G1364G Substitution - coding silent Stomach COSM5047349 DNMT1 c.652C>A p.P218T Substitution - Missense Oesophagus COSM5046356 CBX4 c.982A>T p.R328W Substitution - Missense Oesophagus COSM5041639 EP400 c.6431A>T p.E2144V Substitution - Missense Liver COSM5396598 HDAC4 c.2743G>A p.V915I Substitution - Missense Skin COSM5360766 KMT2A c.5878C>T p.R1960* Substitution - Nonsense Large_intestine COSM5494868 HDAC9 c.479C>T p.T160M Substitution - Missense Biliary_tract COSM5520940 SUV420H2 c.1374C>T p.G458G Substitution - coding silent Biliary_tract COSM5505795 SP100 c.1395_1396insTT p.E466fs*8 Insertion - Frameshift Biliary_tract COSM5470778 CHD3 c.5164C>G p.L1722V Substitution - Missense Large_intestine COSM5471091 KDM4B c.1116-9C>A p.? Unknown Large_intestine COSM5424675 DNMT3A c.2636A>G p.N879S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5644433 JHDM1D c.665T>G p.V222G Substitution - Missense Oesophagus COSM5637193 SMARCC2 c.525C>T p.S175S Substitution - coding silent Oesophagus COSM5756933 MLL5 c.1475G>A p.G492E Substitution - Missense Large_intestine COSM5729059 TTF2 c.1772G>A p.G591E Substitution - Missense Skin COSM5710766 TRRAP c.5078T>C p.I1693T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5547649 CHD3 c.4278_4311del34 p.W1427fs*7 Deletion - Frameshift Prostate COSM5569434 DIDO1 c.6244A>T p.T2082S Substitution - Missense Prostate COSM5569481 CCDC101 c.666G>A p.T222T Substitution - coding silent Prostate COSM5772990 BAZ2A_ENST00000379441 c.4288C>T p.P1430S Substitution - Missense Breast COSM5779821 MECOM c.793A>T p.K265* Substitution - Nonsense Breast COSM5788475 RERE c.3298G>A p.D1100N Substitution - Missense Breast COSM5788438 RUVBL1 c.186T>A p.A62A Substitution - coding silent Breast COSM5929640 CCDC101 c.603-4C>T p.? Unknown Skin COSM5985140 ASH1L c.5843C>G p.P1948R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5999470 PRMT3 c.1585G>A p.G529S Substitution - Missense Prostate COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM13304 BRD2 c.89G>A p.G30E Substitution - Missense Central_nervous_system COSM4972323 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM211647 TET2 c.? p.C1135Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM133004 ARID1A c.5548_5549insG p.D1850fs*4 Insertion - Frameshift Large_intestine COSM3567439 MBD5 c.1313C>T p.P438L Substitution - Missense Skin COSM5347128 ARID1A c.1290C>A p.Y430* Substitution - Nonsense Endometrium COSM4442088 HAT1 c.494A>G p.D165G Substitution - Missense Large_intestine COSM5722303 TP53BP1 c.4001C>T p.A1334V Substitution - Missense Skin COSM3720867 ARID1B c.4517C>T p.S1506L Substitution - Missense Upper_aerodigestive_tract COSM4926981 KDM2A c.1376A>G p.E459G Substitution - Missense Liver COSM4936456 DOT1L c.725A>G p.N242S Substitution - Missense Liver COSM1211712 KDM2B c.1903C>T p.R635C Substitution - Missense Large_intestine COSM5985978 NCOR1 c.1353-1G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1018636 HDAC4 c.851C>T p.P284L Substitution - Missense Endometrium COSM249560 KMT2C c.5053G>T p.A1685S Substitution - Missense Prostate COSM148008 CREBBP c.3900C>A p.I1300I Substitution - coding silent Stomach COSM21473 HNF1A c.730A>G p.R244G Substitution - Missense Liver COSM4643748 MBD6 c.2526C>T p.D842D Substitution - coding silent Liver COSM5063180 ASH2L c.1133A>G p.Y378C Substitution - Missense Stomach COSM4824702 PRMT6 c.68G>A p.R23Q Substitution - Missense Cervix COSM4085347 MBD5 c.3183G>A p.P1061P Substitution - coding silent Stomach COSM263604 SETD2 c.2653G>T p.D885Y Substitution - Missense Large_intestine COSM28808 KDM6A c.385-?_654+?del p.? Unknown Oesophagus COSM4803078 PHF20 c.560C>T p.T187I Substitution - Missense Liver COSM269942 PRDM9 c.306A>G p.K102K Substitution - coding silent Large_intestine COSM4777845 TP53BP1 c.1842_1843insG p.V615fs*4 Insertion - Frameshift Prostate COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM1659161 ARID1A c.6423_6430delCAGCCGCC p.S2142fs*5 Deletion - Frameshift Kidney COSM4486523 ASXL3 c.2186C>T p.P729L Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM279119 BAZ1A c.749A>C p.K250T Substitution - Missense Large_intestine COSM3369269 SETDB1 c.3610G>A p.E1204K Substitution - Missense Large_intestine COSM4064371 RAI1 c.4797G>A p.V1599V Substitution - coding silent Stomach COSM1293221 HDGF c.427G>T p.E143* Substitution - Nonsense Cervix COSM5498496 HCFC1 c.3226G>A p.A1076T Substitution - Missense Biliary_tract COSM3614520 NSD1 c.7581G>A p.W2527* Substitution - Nonsense Skin COSM3366678 ZCWPW1 c.992G>T p.W331L Substitution - Missense Kidney COSM3494917 CHD8 c.6043C>T p.Q2015* Substitution - Nonsense Skin COSM1159500 CDYL2 c.1495C>G p.L499V Substitution - Missense Pancreas COSM5651303 CREBBP c.3091C>T p.Q1031* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Soft_tissue COSM2967911 KDM5C c.3436G>A p.V1146M Substitution - Missense Large_intestine COSM85916 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4428346 CHD7 c.6664G>C p.E2222Q Substitution - Missense Oesophagus COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4977450 SHPRH c.1038C>G p.L346L Substitution - coding silent Oesophagus COSM4565238 ING4 c.189_190CC>TT p.L64F Substitution - Missense Skin COSM5611454 BAP1 c.1804delG p.E602fs*15 Deletion - Frameshift Pleura COSM5055002 CTCF c.1570G>A p.A524T Substitution - Missense Stomach COSM4712692 PCGF2 c.632T>C p.I211T Substitution - Missense Large_intestine COSM5053414 PHC2 c.2438C>T p.A813V Substitution - Missense Stomach COSM693900 ARID2 c.3629T>C p.V1210A Substitution - Missense Lung COSM4170429 KMT2D c.6738delC p.N2247fs*26 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3668465 NCOA3 c.923A>G p.N308S Substitution - Missense Liver COSM1265351 SETD7 c.1046C>T p.A349V Substitution - Missense Oesophagus COSM3237274 KDM3B c.849T>C p.D283D Substitution - coding silent Large_intestine COSM4748941 PRMT8 c.899G>A p.R300H Substitution - Missense Stomach COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1128489 CHD4 c.3778C>T p.R1260C Substitution - Missense Prostate COSM166346 DNMT3A c.? p.?fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM1308284 HDAC10 c.1634C>G p.S545C Substitution - Missense Urinary_tract COSM3294352 NCOA5 c.95G>A p.R32Q Substitution - Missense Oesophagus COSM1680759 BRD4 c.1352A>G p.E451G Substitution - Missense Large_intestine COSM468038 EP400 c.8229G>A p.Q2743Q Substitution - coding silent Skin COSM1732041 PBRM1 c.1612T>C p.S538P Substitution - Missense Kidney COSM1625051 KDM4C c.3146A>C p.Q1049P Substitution - Missense Liver COSM4818795 PRDM5 c.1302C>T p.C434C Substitution - coding silent Cervix COSM5782556 CHD7 c.4161C>A p.D1387E Substitution - Missense Breast COSM1107181 EHMT1 c.2648C>T p.A883V Substitution - Missense Endometrium COSM5202849 CHD4 c.4007G>A p.G1336E Substitution - Missense Breast COSM5399927 ATXN7 c.1414C>T p.P472S Substitution - Missense Skin COSM5988177 MPHOSPH8 c.980G>A p.R327K Substitution - Missense Salivary_gland COSM3904543 SET c.368G>C p.R123T Substitution - Missense Stomach COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1131331 SETD5_ENST00000402198 c.690G>C p.Q230H Substitution - Missense Prostate COSM4146785 SETD8 c.362A>G p.K121R Substitution - Missense Thyroid COSM5553643 BRWD3 c.1894G>A p.E632K Substitution - Missense Prostate COSM252373 BAP1 c.316G>A p.V106M Substitution - Missense Ovary COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1257804 MLL5 c.2888G>A p.R963H Substitution - Missense Large_intestine COSM4611398 ZMYM2 c.3124delA p.K1044fs*33 Deletion - Frameshift Large_intestine COSM335935 HDAC9 c.963G>T p.L321L Substitution - coding silent Lung COSM1388708 SETBP1 c.995G>A p.G332D Substitution - Missense Large_intestine COSM4110910 TAF1 c.3670C>T p.R1224W Substitution - Missense Oesophagus COSM4842939 SMC1A c.1154G>C p.R385T Substitution - Missense Cervix COSM5042386 KMT2D c.12097G>A p.G4033S Substitution - Missense Liver COSM940070 KMT2D c.3946G>T p.G1316C Substitution - Missense Endometrium COSM987436 SMCHD1 c.3845C>T p.T1282I Substitution - Missense Endometrium COSM5615572 CHD1 c.4623G>T p.R1541S Substitution - Missense Lung COSM51976 BAP1 c.507C>G p.H169Q Substitution - Missense Liver COSM5943093 PHF2 c.2042_2043insG p.D682fs*2 Insertion - Frameshift Skin COSM88090 KMT2D c.15691C>T p.R5231* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1641366 NCOA3 c.2066T>C p.L689P Substitution - Missense Stomach COSM4054502 RTF1 c.1277G>A p.R426H Substitution - Missense Stomach COSM958208 ALKBH1 c.836C>T p.S279L Substitution - Missense Breast COSM3705049 ASH1L c.5992G>A p.V1998I Substitution - Missense Liver COSM1228970 TET2 c.1056C>A p.F352L Substitution - Missense Large_intestine COSM4023041 ASH1L c.6877A>G p.K2293E Substitution - Missense Stomach COSM919517 JMJD1C c.445C>T p.R149* Substitution - Nonsense Breast COSM144495 DNMT3A c.2322+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM945394 ING1 c.274G>A p.V92M Substitution - Missense Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3760414 SMARCA5 c.406C>T p.L136L Substitution - coding silent Large_intestine COSM4277770 SMARCA4 c.2206C>T p.H736Y Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM937178 EP400 c.6877C>T p.R2293C Substitution - Missense Skin COSM3824896 TET2 c.4778G>A p.S1593N Substitution - Missense Breast COSM359850 ZBTB38 c.613A>T p.R205W Substitution - Missense Lung COSM97162 PRDM1 c.183G>A p.E62fs Unknown Haematopoietic_and_lymphoid_tissue COSM1638921 KAT5 c.1423A>G p.N475D Substitution - Missense Stomach COSM5637705 TRIM24 c.1531-1G>T p.? Unknown Oesophagus COSM5361409 AICDA c.78G>T p.E26D Substitution - Missense Large_intestine COSM380161 MBD5 c.2238T>C p.S746S Substitution - coding silent Lung COSM4591210 PRDM14 c.187G>C p.A63P Substitution - Missense Upper_aerodigestive_tract COSM1080047 CDYL c.478G>A p.E160K Substitution - Missense Endometrium COSM4481440 KMT2C c.2509C>T p.P837S Substitution - Missense Skin COSM5757546 PHF16 c.650T>C p.M217T Substitution - Missense Large_intestine COSM3873168 DAXX c.1577G>A p.R526H Substitution - Missense Stomach COSM3910441 SMEK2 c.1761C>T p.F587F Substitution - coding silent Skin COSM3445303 PRDM10 c.469C>T p.L157L Substitution - coding silent Skin COSM3479303 TDRD5 c.1876G>A p.E626K Substitution - Missense Skin COSM1615600 CHD6 c.1962T>G p.A654A Substitution - coding silent Liver COSM1400348 BAZ2B c.998C>G p.S333C Substitution - Missense Large_intestine COSM328564 NIPBL c.423T>A p.N141K Substitution - Missense Kidney COSM5762872 DNMT3A c.1076_1077insT p.N360fs*33 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM220220 MORF4L2 c.676C>T p.P226S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5600552 SP110 c.733C>T p.P245S Substitution - Missense Skin COSM53012 EZH2 c.754C>G p.L252V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5005690 KMT2D c.5846_5847ins12 p.G1949_A1950insVR* Insertion - In frame Haematopoietic_and_lymphoid_tissue COSM2098599 CHD4 c.1579C>T p.P527S Substitution - Missense Skin COSM357543 CBX1 c.46G>A p.E16K Substitution - Missense Stomach COSM4695049 KDM6B c.112C>T p.R38C Substitution - Missense Large_intestine COSM4880911 CHD2 c.3300T>G p.A1100A Substitution - coding silent Prostate COSM6006606 POGZ c.2125C>T p.P709S Substitution - Missense Prostate COSM4464603 TDRD7 c.1341C>T p.T447T Substitution - coding silent Skin COSM1155722 ASXL1 c.3935C>A p.A1312E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM393089 AICDA c.511C>T p.R171C Substitution - Missense Skin COSM323643 STK31 c.1612G>T p.V538L Substitution - Missense Lung COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3704144 ARID2 c.961C>T p.H321Y Substitution - Missense Liver COSM281638 HDAC9 c.748G>T p.D250Y Substitution - Missense Large_intestine COSM1361959 KMT2D c.15060C>T p.G5020G Substitution - coding silent Large_intestine COSM5965996 EHMT2 c.1587G>C p.G529G Substitution - coding silent Breast COSM126806 KMT2C c.12835C>T p.Q4279* Substitution - Nonsense Breast COSM1045483 SETD2 c.2217G>T p.E739D Substitution - Missense Endometrium COSM1027546 NCOA3 c.3786G>A p.Q1262Q Substitution - coding silent Prostate COSM4325772 PBRM1 c.996-6T>A p.? Unknown Large_intestine COSM145807 PRDM2 c.3502G>A p.V1168M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM260091 CHD7 c.1791G>T p.K597N Substitution - Missense Large_intestine COSM939298 KDM5A c.1883A>G p.D628G Substitution - Missense Endometrium COSM4772829 TP53BP1 c.5797_5806del10 p.C1933fs*12 Deletion - Frameshift Stomach COSM1642887 SHPRH c.277delT p.S93fs*5 Deletion - Frameshift Large_intestine COSM3861640 TCF19 c.1017C>T p.C339C Substitution - coding silent Stomach COSM4188820 METTL21D c.202C>T p.R68W Substitution - Missense Kidney COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1081875 PHIP c.240T>C p.H80H Substitution - coding silent Endometrium COSM3418419 TDRD5 c.1552C>T p.R518* Substitution - Nonsense Large_intestine COSM3882239 BAZ1B c.1194T>C p.S398S Substitution - coding silent Stomach COSM5936271 BAHCC1 c.6238C>T p.P2080S Substitution - Missense Skin COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM464464 PHC2 c.1217C>A p.P406Q Substitution - Missense Kidney COSM446833 BAP1 c.145C>G p.L49V Substitution - Missense Breast COSM5781532 SRCAP c.8233A>G p.K2745E Substitution - Missense Breast COSM252994 EPC1 c.1243-4delT p.? Unknown Skin COSM5653411 NCOA3 c.522A>C p.P174P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5719630 SMYD1 c.1333G>A p.E445K Substitution - Missense Skin COSM256042 DNMT3A c.2669G>A p.G890D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5404182 HDAC2 c.1030C>A p.L344M Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3253754 BAG6 c.614C>T p.P205L Substitution - Missense Large_intestine COSM4956602 DNMT1 c.1744C>T p.R582W Substitution - Missense Liver COSM233789 ZBTB4 c.2944C>T p.P982S Substitution - Missense Skin COSM5656158 BAZ1B c.1030_1032delAAG p.K344delK Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM4387145 MEN1 c.1243C>T p.R415* Substitution - Nonsense Lung COSM5425356 CDYL2 c.172T>C p.L58L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1672541 PHF3 c.2204G>A p.C735Y Substitution - Missense Large_intestine COSM4914649 KDM5D c.870G>A p.L290L Substitution - coding silent Liver COSM5723933 CHD7 c.3764C>T p.P1255L Substitution - Missense Skin COSM2948458 KAT2B c.1843G>A p.G615R Substitution - Missense Large_intestine COSM3381977 BAZ1B c.460G>T p.G154C Substitution - Missense Pancreas COSM304263 TAF3 c.1238C>T p.S413L Substitution - Missense Large_intestine COSM1051176 PHF17 c.206A>C p.Y69S Substitution - Missense Endometrium COSM4701976 MGA c.5630C>T p.P1877L Substitution - Missense Large_intestine COSM4896599 KMT2C c.2376T>C p.P792P Substitution - coding silent Skin COSM4894860 NCOA6 c.554C>T p.P185L Substitution - Missense Skin COSM5424519 ARID4A c.3768C>T p.C1256C Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM937164 EP400 c.5089C>G p.P1697A Substitution - Missense Endometrium COSM1411118 DNMT3B c.536G>T p.G179V Substitution - Missense Large_intestine COSM4385580 TET2 c.2252_2253insA p.N752fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2007015 KMT2D c.7588C>T p.Q2530* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM6008930 EP300 c.3971G>A p.R1324K Substitution - Missense Large_intestine COSM972731 PRMT7 c.133-1G>T p.? Unknown Endometrium COSM1685867 NCOA1 c.3715C>T p.P1239S Substitution - Missense Skin COSM3304106 KMT2C c.7959A>G p.L2653L Substitution - coding silent Large_intestine COSM2158447 JMJD1C c.3932_3940delCAAACTCTG p.A1311_S1313delANS Deletion - In frame Large_intestine COSM5624658 PHF14 c.1258A>T p.I420F Substitution - Missense Oesophagus COSM3675710 EPC1 c.1298T>C p.L433S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1008171 BAZ2B c.197C>T p.S66L Substitution - Missense Endometrium COSM241871 TET2 c.5117delT p.F1706fs*13 Deletion - Frameshift Prostate COSM5975173 CLOCK c.2081C>T p.T694I Substitution - Missense Upper_aerodigestive_tract COSM3508167 JMJD5 c.1065C>T p.H355H Substitution - coding silent Large_intestine COSM3656851 TAF1L c.2806G>A p.E936K Substitution - Missense Skin COSM271085 ACTA1 c.65G>A p.G22D Substitution - Missense Large_intestine COSM2183647 POGZ c.917G>A p.R306Q Substitution - Missense Large_intestine COSM150901 TDRD6 c.3949_3956delCTTTCAGA p.S1318fs*8 Deletion - Frameshift Stomach COSM4422681 ZGPAT c.1394A>T p.K465M Substitution - Missense Kidney COSM5756435 SMARCA5 c.2831G>A p.G944E Substitution - Missense Large_intestine COSM3878486 TIF1 c.1016G>A p.R339H Substitution - Missense Stomach COSM1583090 DNMT3A c.2069T>G p.V690G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5054793 GTF3C1 c.5686A>G p.S1896G Substitution - Missense Stomach COSM52947 IDH2 c.? p.R172? Substitution - Missense Bone COSM3568250 BAZ2B c.6472G>A p.E2158K Substitution - Missense Skin COSM1611966 DOT1L c.2744A>G p.E915G Substitution - Missense Liver COSM1423515 SETD2 c.5522T>C p.V1841A Substitution - Missense Large_intestine COSM4567443 PRDM11 c.816_817GG>AA p.E273K Substitution - Missense Skin COSM3779297 CHD7 c.1524T>C p.F508F Substitution - coding silent Urinary_tract COSM1245447 ARID1A c.1207C>T p.Q403* Substitution - Nonsense Urinary_tract COSM4999059 KMT2C c.2246T>G p.V749G Substitution - Missense Pancreas COSM4405953 BAZ1A c.2990C>T p.A997V Substitution - Missense Skin COSM4925976 PCGF2 c.809C>T p.P270L Substitution - Missense Liver COSM1390281 SMARCA4 c.4051G>A p.D1351N Substitution - Missense Large_intestine COSM5093656 SMARCC2 c.708+6C>T p.? Unknown Large_intestine COSM5942648 CREBBP c.4198G>A p.E1400K Substitution - Missense Skin COSM5413340 ARID1A c.1820C>T p.S607L Substitution - Missense Skin COSM4384863 CREBBP c.6910C>T p.Q2304* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3631918 PHF14 c.1654C>T p.R552* Substitution - Nonsense Skin COSM1415171 SMARCB1 c.537C>T p.N179N Substitution - coding silent Stomach COSM5752887 KMT2C c.1361_1362insT p.I455fs*3 Insertion - Frameshift Breast COSM5898682 PHF16 c.285G>A p.R95R Substitution - coding silent Skin COSM225885 KMT2C c.1139G>T p.R380L Substitution - Missense Soft_tissue COSM2007290 KMT2D c.2747G>A p.R916H Substitution - Missense Large_intestine COSM3747999 CREBBP c.2826T>C p.P942P Substitution - coding silent Central_nervous_system COSM291265 GABRG1 c.1100C>G p.T367S Substitution - Missense Large_intestine COSM5690277 GTF3C1 c.1471G>T p.G491C Substitution - Missense Soft_tissue COSM3382548 KDM4C c.1442C>T p.S481F Substitution - Missense Pancreas COSM4993583 ATRX c.1190C>T p.S397F Substitution - Missense Skin COSM397340 KMT2C c.1240C>T p.H414Y Substitution - Missense Lung COSM5547010 SETDB2 c.2114_2116delTCT p.F706delF Deletion - In frame Prostate COSM376478 PRDM16 c.3107C>T p.P1036L Substitution - Missense Lung COSM365947 PRDM2 c.2392C>T p.P798S Substitution - Missense Lung COSM231568 DNMT3A c.2578T>C p.W860R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5462360 MTA1 c.352C>T p.P118S Substitution - Missense Large_intestine COSM2949900 MINA c.550G>A p.E184K Substitution - Missense Large_intestine COSM42061 TET2 c.1843_1844insG p.L615fs*23 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1086204 JHDM1D c.1543C>T p.R515* Substitution - Nonsense Endometrium COSM4165867 PHRF1 c.3511G>C p.A1171P Substitution - Missense Kidney COSM4922635 ACTR6 c.58G>A p.E20K Substitution - Missense Liver COSM727025 EP300 c.6367G>T p.G2123W Substitution - Missense Lung COSM1355392 MTA2 c.1850G>A p.R617Q Substitution - Missense Large_intestine COSM4488440 ZMYM2 c.3328C>T p.L1110L Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4411165 BAP1 c.1411_1412insC p.G472fs*20 Insertion - Frameshift Kidney COSM4514022 ACTR8 c.95C>T p.P32L Substitution - Missense Skin COSM5748756 RERE c.1433C>T p.P478L Substitution - Missense Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM88748 CREBBP c.4337G>A p.R1446H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4882640 KDM5C c.4548C>A p.S1516R Substitution - Missense Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1009 SMARCB1 c.897G>A p.S299S Substitution - coding silent Soft_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3528391 CARM1 c.420G>A p.R140R Substitution - coding silent Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM985959 SIRT7 c.1031C>T p.A344V Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1727290 EYA3 c.311C>T p.P104L Substitution - Missense Liver COSM2210718 ASH1L c.3595A>G p.S1199G Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1685371 SETBP1 c.? p.D874N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2152177 CHD7 c.5783A>T p.Q1928L Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM944336 PHC1 c.1287G>A p.Q429Q Substitution - coding silent Large_intestine COSM133008 ARID1A c.5841_5842insAGCACAG p.H1949fs*16 Insertion - Frameshift Large_intestine COSM1027972 ADNP c.1195_1196insG p.A399fs*41 Insertion - Frameshift Endometrium COSM5003424 CHD2 c.3014G>A p.R1005K Substitution - Missense Pancreas COSM5991436 HDAC9 c.1570C>G p.P524A Substitution - Missense Prostate COSM474150 SMARCA4 c.3557C>G p.A1186G Substitution - Missense Kidney COSM1021270 MSH6 c.1585G>T p.G529C Substitution - Missense Endometrium COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5893067 NSD1 c.3133C>T p.R1045C Substitution - Missense Skin COSM5442545 PHIP c.760C>G p.L254V Substitution - Missense Oesophagus COSM5578690 HDAC4 c.1031C>T p.P344L Substitution - Missense Skin COSM5502803 MECOM c.1705G>A p.V569I Substitution - Missense Biliary_tract COSM302137 EP400 c.8181A>G p.Q2727Q Substitution - coding silent Liver COSM1628614 ARID2 c.5260C>T p.R1754* Substitution - Nonsense Liver COSM4070314 CBX4 c.1511C>T p.A504V Substitution - Missense Stomach COSM3486470 SMYD3 c.942G>A p.V314V Substitution - coding silent Skin COSM5349644 PRDM10 c.608G>A p.R203Q Substitution - Missense Lung COSM3946383 GABRG1 c.811G>T p.G271* Substitution - Nonsense Liver COSM5559259 TRRAP c.9300G>C p.L3100F Substitution - Missense Prostate COSM1166762 TET2 c.3593delG p.V1199fs*27 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5700064 PRDM1 c.242T>C p.I81T Substitution - Missense Soft_tissue COSM1749950 SUZ12 c.992G>A p.R331K Substitution - Missense Urinary_tract COSM2965370 KDM6A c.2040C>T p.N680N Substitution - coding silent Upper_aerodigestive_tract COSM5344415 FXR1 c.72T>G p.H24Q Substitution - Missense Large_intestine COSM5430332 SRCAP c.8485C>T p.R2829C Substitution - Missense Oesophagus COSM2879853 MBD2 c.509T>G p.L170R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2269476 BAHD1 c.1384G>T p.A462S Substitution - Missense Large_intestine COSM1307604 DIDO1 c.5893C>T p.Q1965* Substitution - Nonsense Urinary_tract COSM248833 TDRD6 c.1006C>T p.R336W Substitution - Missense Large_intestine COSM4564513 BRDT c.1225_1226GG>AA p.G409K Substitution - Missense Skin COSM3947299 NSD1 c.628G>C p.E210Q Substitution - Missense Lung COSM1540734 PRDM8 c.505C>T p.P169S Substitution - Missense Skin COSM88777 EP300 c.1519A>G p.S507G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3738502 TET2 c.? p.E1279* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5177577 EHMT2 c.2012-4G>A p.? Unknown Large_intestine COSM969921 SRCAP c.1459G>A p.E487K Substitution - Missense Endometrium COSM3764426 SMARCD1 c.1240A>G p.N414D Substitution - Missense Central_nervous_system COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1644129 TET2 c.3890_3892delGAT p.C1298del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM37030 EZH2 c.1936T>C p.Y646H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM21472 HNF1A c.872_884del13 p.P291fs*47 Deletion - Frameshift Liver COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43499 TET2 c.5693C>T p.S1898F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87098 TET2 c.2218C>T p.Q740* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM112121 PRDM2 c.2104_2105insCTC p.P703_A704insP Insertion - In frame Upper_aerodigestive_tract COSM212075 GTF3C4 c.1027C>T p.L343F Substitution - Missense Breast COSM215730 CBX8 c.539G>A p.R180Q Substitution - Missense Central_nervous_system COSM234305 SND1 c.2404C>T p.Q802* Substitution - Nonsense Skin COSM226978 PRDM9 c.1802C>G p.T601R Substitution - Missense Skin COSM225883 KMT2C c.2968A>G p.S990G Substitution - Missense Soft_tissue COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Large_intestine COSM236191 PCGF6 c.605T>C p.L202P Substitution - Missense Autonomic_ganglia COSM238978 BPTF c.7776_7777insA p.R2593fs*4 Insertion - Frameshift Prostate COSM253778 NCOA7 c.1757G>C p.G586A Substitution - Missense Urinary_tract COSM271466 PHF7 c.1075C>T p.R359C Substitution - Missense Large_intestine COSM301930 CHD3 c.721G>C p.A241P Substitution - Missense Central_nervous_system COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Large_intestine COSM340462 NCOR1 c.494G>T p.C165F Substitution - Missense Lung COSM371404 BRPF1 c.2526G>T p.R842R Substitution - coding silent Lung COSM386778 NCOR1 c.4309G>T p.D1437Y Substitution - Missense Lung COSM422093 CHD7 c.951C>G p.N317K Substitution - Missense Urinary_tract COSM401802 DNMT1 c.3G>T p.M1I Substitution - Missense Lung COSM417011 CREBBP c.4990C>T p.R1664C Substitution - Missense Large_intestine COSM427834 SFMBT2 c.1957T>C p.C653R Substitution - Missense Breast COSM441298 BAZ2B c.1039C>G p.P347A Substitution - Missense Breast COSM452107 MLL5 c.5527C>A p.Q1843K Substitution - Missense Breast COSM975862 NCOR1 c.5509T>C p.S1837P Substitution - Missense Endometrium COSM480156 SETD2 c.3411G>T p.W1137C Substitution - Missense Kidney COSM486435 WHSC1L1 c.928G>T p.V310F Substitution - Missense Kidney COSM1029177 ZGPAT c.1258G>T p.E420* Substitution - Nonsense Endometrium COSM1030673 BRWD1 c.5912C>T p.T1971I Substitution - Missense Endometrium COSM1026880 CHD6 c.2357T>C p.V786A Substitution - Missense Endometrium COSM751049 CHD7 c.4941G>C p.L1647L Substitution - coding silent Lung COSM934222 HCFC2 c.560C>A p.P187H Substitution - Missense Endometrium COSM961497 MGA c.1484G>A p.R495Q Substitution - Missense Large_intestine COSM1034757 TCF20 c.4876G>A p.A1626T Substitution - Missense Endometrium COSM1073634 SIRT5 c.130C>T p.R44* Substitution - Nonsense Endometrium COSM1121577 KDM6A c.711T>G p.L237L Substitution - coding silent Endometrium COSM1121701 PHF16 c.2228A>C p.K743T Substitution - Missense Endometrium COSM1098847 ELP3 c.18A>C p.K6N Substitution - Missense Endometrium COSM1266216 SMARCA2 c.666A>G p.Q222Q Substitution - coding silent Biliary_tract COSM1266241 SMARCA5 c.3057G>C p.E1019D Substitution - Missense Oesophagus COSM1220389 PHF8 c.2937G>C p.L979F Substitution - Missense Large_intestine COSM1215960 MUM1 c.115C>G p.L39V Substitution - Missense Large_intestine COSM1606131 ARID2 c.799G>T p.E267* Substitution - Nonsense Biliary_tract COSM1285321 HCFC1 c.2439C>T p.I813I Substitution - coding silent Autonomic_ganglia COSM1293710 INO80C c.369C>G p.N123K Substitution - Missense Cervix COSM1387351 CHD3 c.1612delC p.R540fs*16 Deletion - Frameshift Large_intestine COSM1427199 SETD7 c.477T>G p.F159L Substitution - Missense Large_intestine COSM1407109 DNMT3A c.1444G>A p.E482K Substitution - Missense Large_intestine COSM1554706 TAF1L c.189G>A p.K63K Substitution - coding silent Large_intestine COSM1494675 BAZ2B c.963G>T p.Q321H Substitution - Missense Kidney COSM1495274 TCF20 c.2984T>A p.V995D Substitution - Missense Kidney COSM1619520 BRD8 c.2218A>G p.I740V Substitution - Missense Liver COSM1583092 DNMT3A c.1965_1965delT p.Q656fs*49 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1578650 MBTD1 c.793G>A p.D265N Substitution - Missense Meninges COSM1658762 IDH2 c.1054A>C p.T352P Substitution - Missense Breast COSM1721292 MTA1 c.1637_1638insC p.K549fs*3 Insertion - Frameshift Skin COSM1737709 JARID2 c.1069G>A p.V357I Substitution - Missense Central_nervous_system COSM1736384 LMNB1 c.1548G>C p.K516N Substitution - Missense Central_nervous_system COSM1748905 ARID4A c.2677G>A p.E893K Substitution - Missense Urinary_tract COSM1753424 MINA c.917G>A p.R306Q Substitution - Missense Urinary_tract COSM2155611 CHD6 c.5495G>A p.C1832Y Substitution - Missense Central_nervous_system COSM2182740 SETDB1 c.2403A>G p.L801L Substitution - coding silent Large_intestine COSM2974760 TRIM28 c.755A>T p.Q252L Substitution - Missense Large_intestine COSM3095621 ZMYM3 c.405T>C p.C135C Substitution - coding silent Large_intestine COSM3176003 PHIP c.1382T>C p.V461A Substitution - Missense Large_intestine COSM3300264 BAZ2B c.3302G>A p.R1101Q Substitution - Missense Large_intestine COSM3296310 EPC2 c.2124A>G p.L708L Substitution - coding silent Kidney COSM3396082 BAZ2A_ENST00000379441 c.4578G>T p.Q1526H Substitution - Missense Prostate COSM3492892 RERE c.4471C>T p.R1491C Substitution - Missense Skin COSM3495054 PRMT5 c.916G>C p.D306H Substitution - Missense Skin COSM3424216 TCF20 c.3999C>T p.L1333L Substitution - coding silent Large_intestine COSM3428419 WHSC1 c.495G>A p.A165A Substitution - coding silent Large_intestine COSM3632990 SND1 c.1555C>T p.P519S Substitution - Missense Skin COSM3561781 PHF16 c.139G>A p.D47N Substitution - Missense Skin COSM3524729 AP001011.3_ENST00000320876 c.803C>T p.S268F Substitution - Missense Skin COSM3716785 PRDM10 c.1157+2T>C p.? Unknown Oesophagus COSM3853747 DUSP1 c.547C>T p.L183L Substitution - coding silent Stomach COSM3932819 AP001011.3_ENST00000320876 c.2669C>T p.A890V Substitution - Missense Urinary_tract COSM3832221 EZH2 c.2168C>T p.T723I Substitution - Missense Breast COSM3919750 NSD1 c.7007T>G p.V2336G Substitution - Missense Skin COSM3919890 PRDM9 c.1761G>A p.R587R Substitution - coding silent Skin COSM3893789 TRIM28 c.791G>A p.G264E Substitution - Missense Skin COSM4016610 BTAF1 c.5039G>A p.S1680N Substitution - Missense Stomach COSM4003715 SHPRH c.2632C>T p.R878* Substitution - Nonsense Skin COSM4045986 ING1 c.513C>T p.G171G Substitution - coding silent Stomach COSM4046311 MPHOSPH8 c.1884C>T p.N628N Substitution - coding silent Stomach COSM4119379 ACTR8 c.410G>A p.R137H Substitution - Missense Stomach COSM4071913 ASXL3 c.2803C>T p.P935S Substitution - Missense Stomach COSM4136892 CHD6 c.1234T>G p.W412G Substitution - Missense Ovary COSM4141918 CDYL2 c.526C>T p.Q176* Substitution - Nonsense Ovary COSM4168652 HNF1A c.475C>T p.R159W Substitution - Missense Peritoneum COSM4199425 MEN1 c.510C>T p.L170L Substitution - coding silent Skin COSM4384598 KMT2A c.5149C>T p.Q1717* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4385265 EP300 c.6796_6798delCAG p.Q2268delQ Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM4387428 BAP1 c.254A>C p.Q85P Substitution - Missense Eye COSM4596816 TET2 c.1567G>C p.G523R Substitution - Missense Upper_aerodigestive_tract COSM4430428 BPTF c.4897A>C p.T1633P Substitution - Missense Oesophagus COSM4593164 EP400 c.6637A>C p.T2213P Substitution - Missense Upper_aerodigestive_tract COSM4589480 SMC1A c.421G>A p.E141K Substitution - Missense Bone COSM4426157 BRD3 c.1141C>T p.R381W Substitution - Missense Oesophagus COSM4671302 CDYL2 c.336C>A p.P112P Substitution - coding silent Large_intestine COSM4663889 ASXL1 c.1645delC p.R549fs*154 Deletion - Frameshift Large_intestine COSM4700950 MBD1 c.1117C>T p.R373C Substitution - Missense Large_intestine COSM4694944 KDM3B c.3525G>A p.P1175P Substitution - coding silent Large_intestine COSM4701742 MEN1 c.1396G>A p.E466K Substitution - Missense Large_intestine COSM4713903 PHC2 c.831A>G p.A277A Substitution - coding silent Large_intestine COSM4768504 PHF1 c.210G>A p.Q70Q Substitution - coding silent Biliary_tract COSM4649921 RAI1 c.4917G>A p.S1639S Substitution - coding silent Large_intestine COSM4640088 NCOR1 c.1461T>C p.Y487Y Substitution - coding silent Large_intestine COSM4758043 BRWD3 c.3107T>G p.L1036R Substitution - Missense Stomach COSM4791367 NIPBL c.1391C>T p.P464L Substitution - Missense Liver COSM4794805 EP400 c.5632G>A p.G1878R Substitution - Missense Liver COSM4820882 SMYD4 c.1009C>G p.L337V Substitution - Missense Cervix COSM4949534 SETD5_ENST00000402198 c.1352T>A p.M451K Substitution - Missense Liver COSM4966894 ARID2 c.60G>A p.L20L Substitution - coding silent Prostate COSM4998999 TDRD5 c.2836C>T p.L946F Substitution - Missense Pancreas COSM5029010 SMARCA1 c.962C>G p.S321C Substitution - Missense Breast COSM5346995 ARID1A c.3973C>T p.P1325S Substitution - Missense Endometrium COSM5346997 ARID1A c.2732G>T p.R911M Substitution - Missense Central_nervous_system COSM5346171 NSD1 c.4036delG p.E1346fs*26 Deletion - Frameshift Urinary_tract COSM5383358 TP53BP1 c.1963C>T p.P655S Substitution - Missense Skin COSM5463546 EHMT2 c.361A>C p.S121R Substitution - Missense Large_intestine COSM5630488 HCFC2 c.552G>A p.G184G Substitution - coding silent Oesophagus COSM5720880 HDAC9 c.500G>A p.G167E Substitution - Missense Skin COSM5731081 PRDM1 c.1806G>C p.K602N Substitution - Missense Breast COSM5725085 NCOR1 c.5065C>T p.P1689S Substitution - Missense Skin COSM5555348 SFMBT1 c.1048G>T p.G350C Substitution - Missense Prostate COSM5560187 EP400 c.288C>T p.L96L Substitution - coding silent Prostate COSM5762935 SETBP1 c.268G>A p.E90K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5815974 ARID1A c.5443A>T p.K1815* Substitution - Nonsense Liver COSM5803420 PWWP2B c.1669C>A p.R557S Substitution - Missense Liver COSM5809880 RAG2 c.675C>T p.A225A Substitution - coding silent Liver COSM5944206 DNMT3A c.2462delA p.H821fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5948915 PHIP c.600+2T>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5951851 EED c.234C>T p.C78C Substitution - coding silent Oesophagus COSM5946930 EYA1 c.285A>T p.P95P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5891523 ASXL3 c.13G>A p.G5R Substitution - Missense Skin COSM5947538 ZMYM4 c.4019C>T p.T1340I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM3735010 EZH2 c.? p.M121I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43409 TET2 c.? p.?fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM4767390 IDH2 c.? p.A416fs*? Frameshift Large_intestine COSM1338729 SMYD2 c.916C>T p.R306W Substitution - Missense Large_intestine COSM5715101 HDAC4 c.3196G>A p.V1066M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5599297 CHD1 c.978C>T p.S326S Substitution - coding silent Skin COSM442970 MSH6 c.3548T>A p.I1183K Substitution - Missense Breast COSM3729906 MBD4 c.939delA p.E314fs*4 Deletion - Frameshift Large_intestine COSM5878803 DNMT3A c.1851+5G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53170 TET2 c.? p.Q1020fs*16 Frameshift Haematopoietic_and_lymphoid_tissue COSM166347 DNMT3A c.? p.? Unknown Adrenal_gland COSM1059 SMARCB1 c.916G>T p.E306* Substitution - Nonsense Central_nervous_system COSM433032 BAZ1A c.3244A>G p.M1082V Substitution - Missense Breast COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM3820841 KDM6B c.899C>T p.P300L Substitution - Missense Breast COSM4082477 TRIM28 c.1583C>A p.A528D Substitution - Missense Stomach COSM686089 BTAF1 c.4002G>A p.P1334P Substitution - coding silent Prostate COSM429983 EED c.619C>T p.L207L Substitution - coding silent Soft_tissue COSM5902661 SETD2 c.6070C>T p.P2024S Substitution - Missense Skin COSM30382 KMT2D c.8516C>A p.P2839H Substitution - Missense Kidney COSM3112827 SRCAP c.1300A>C p.S434R Substitution - Missense Soft_tissue COSM87011 DNMT3A c.2141C>G p.S714C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2030054 CHD8 c.3789C>T p.Y1263Y Substitution - coding silent Large_intestine COSM4402944 RERE c.253C>T p.R85C Substitution - Missense Skin COSM894174 TRIM33 c.2903G>A p.R968H Substitution - Missense Oesophagus COSM4611384 HNF1A c.864_865insC p.G292fs*25 Insertion - Frameshift Large_intestine COSM4779594 SMARCA5 c.1810G>T p.V604L Substitution - Missense Liver COSM53041 EZH2 c.2195+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM124347 MBD5 c.2960A>C p.Q987P Substitution - Missense Upper_aerodigestive_tract COSM5723289 SCML2 c.607C>T p.H203Y Substitution - Missense Skin COSM230133 KMT2C c.1173C>A p.C391* Substitution - Nonsense Soft_tissue COSM5426313 KMT2C c.2613C>T p.P871P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4792846 SUV420H1 c.1587G>C p.G529G Substitution - coding silent Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM4679231 DPF1 c.1044T>G p.A348A Substitution - coding silent Large_intestine COSM5748999 PBRM1 c.2005G>C p.V669L Substitution - Missense Pancreas COSM241373 RBBP5 c.529G>C p.V177L Substitution - Missense Prostate COSM1754384 PRDM13 c.1830C>T p.F610F Substitution - coding silent Urinary_tract COSM990746 SMARCA4 c.2402G>A p.R801H Substitution - Missense Large_intestine COSM4097593 DNMT3B c.289C>T p.R97C Substitution - Missense Stomach COSM4755857 SMARCC2 c.1987C>T p.P663S Substitution - Missense Stomach COSM3387722 NCOR1 c.98G>T p.R33L Substitution - Missense Pancreas COSM3378089 SMYD4 c.659C>T p.A220V Substitution - Missense Pancreas COSM5879079 EZH2 c.2029+3_2029+25del23 p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3702457 BAP1 c.502T>C p.F168L Substitution - Missense Liver COSM295072 DNMT3A c.1179T>C p.S393S Substitution - coding silent Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM4408938 SMARCA4 c.2738C>T p.P913L Substitution - Missense Stomach COSM4477384 SUV420H1 c.2148C>T p.P716P Substitution - coding silent Skin COSM4070754 SIRT7 c.1135G>A p.A379T Substitution - Missense Stomach COSM3662831 MLL5 c.612T>A p.T204T Substitution - coding silent Liver COSM5514378 BRWD3 c.3445C>T p.R1149W Substitution - Missense Biliary_tract COSM3769517 ALKBH1 c.831A>C p.I277I Substitution - coding silent Pancreas COSM3472828 PRDM2 c.3104C>T p.P1035L Substitution - Missense Skin COSM3770313 ERCC6 c.4332G>T p.Q1444H Substitution - Missense Soft_tissue COSM3834972 PRDM14 c.704C>T p.S235F Substitution - Missense Breast COSM41292 IDH1 c.? p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1118756 SCML2 c.1776G>A p.K592K Substitution - coding silent Endometrium COSM41600 ASXL1 c.? p.Q976* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5025953 BAP1 c.598G>A p.E200K Substitution - Missense Breast COSM51995 TET2 c.? p.G1313* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM24934 HNF1A c.1168G>T p.E390* Substitution - Nonsense Liver COSM337463 RAI1 c.1032C>T p.H344H Substitution - coding silent Lung COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM1051860 PRMT10 c.702G>A p.T234T Substitution - coding silent Biliary_tract COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM327350 CHD1 c.5050_5052delCCT p.P1684delP Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM5831667 KMT2A c.6800delA p.R2268fs*6 Deletion - Frameshift Breast COSM4623885 GATAD2A c.357C>T p.S119S Substitution - coding silent Large_intestine COSM3469196 SETDB2 c.2052A>T p.K684N Substitution - Missense Skin COSM36874 ZMYM4 c.1837-3C>T p.? Unknown Skin COSM1045425 SETD2 c.5877C>A p.T1959T Substitution - coding silent Endometrium COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM740196 L3MBTL3 c.141A>G p.T47T Substitution - coding silent Lung COSM25630 KDM2A c.3014C>T p.T1005I Substitution - Missense Skin COSM3923842 ACTB c.772C>T p.P258S Substitution - Missense Skin COSM3523599 BAHCC1 c.6788C>T p.P2263L Substitution - Missense Skin COSM916167 MGMT c.380C>T p.A127V Substitution - Missense Upper_aerodigestive_tract COSM5751934 PHF6 c.79_80insT p.E27fs*9 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4878437 SMARCD2 c.902G>A p.R301H Substitution - Missense Prostate COSM1026083 NCOA6 c.3090_3092delGCA p.Q1032delQ Deletion - In frame Endometrium COSM3876894 MLL5 c.34G>A p.A12T Substitution - Missense Stomach COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Prostate COSM5611034 TRRAP c.10689C>T p.S3563S Substitution - coding silent Skin COSM2797719 BPTF c.3058G>A p.D1020N Substitution - Missense Large_intestine COSM5966783 CHD6 c.1804A>G p.R602G Substitution - Missense Adrenal_gland COSM3430899 PHIP c.3928C>T p.R1310C Substitution - Missense Pancreas COSM3862512 PRDM2 c.883G>A p.E295K Substitution - Missense Skin COSM1166033 DNMT3A c.558G>A p.P186P Substitution - coding silent Large_intestine COSM5217186 YY1 c.1134C>T p.T378T Substitution - coding silent Biliary_tract COSM4209477 SMARCC2 c.574C>T p.R192* Substitution - Nonsense Stomach COSM98020 SFMBT2 c.2029G>A p.G677R Substitution - Missense Upper_aerodigestive_tract COSM3975933 TTF2 c.3072T>C p.V1024V Substitution - coding silent Lung COSM2036897 PHRF1 c.2351T>C p.M784T Substitution - Missense Large_intestine COSM4970270 ASH2L c.1215G>T p.K405N Substitution - Missense Central_nervous_system COSM43412 TET2 c.?_?del? p.?fs Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM97035 ASXL1 c.2278C>T p.Q760* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4694978 KDM4D c.215C>T p.A72V Substitution - Missense Large_intestine COSM218429 ARID1A c.6226_6227insC p.Y2076fs*23 Insertion - Frameshift Pancreas COSM1209174 GTF3C1 c.5765C>T p.A1922V Substitution - Missense Urinary_tract COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3830675 TDRD6 c.2552T>A p.F851Y Substitution - Missense Breast COSM5134633 MYST3 c.4989_4991delGCC p.P1664delP Deletion - In frame Large_intestine COSM3368797 KDM5A c.3484A>C p.K1162Q Substitution - Missense Thyroid COSM1049754 TET2 c.2337T>C p.T779T Substitution - coding silent Endometrium COSM4063048 CDYL2 c.101G>A p.S34N Substitution - Missense Stomach COSM939707 HDAC7 c.385A>G p.M129V Substitution - Missense Endometrium COSM3713054 SUV420H2 c.419G>T p.G140V Substitution - Missense Upper_aerodigestive_tract COSM4476071 EZH1 c.2038C>T p.R680W Substitution - Missense Skin COSM5001462 ATAT1 c.789_790insG p.A264fs*48 Insertion - Frameshift Pancreas COSM1726381 PRMT7 c.1153C>G p.Q385E Substitution - Missense Liver COSM5393101 PRMT2 c.1050G>A p.L350L Substitution - coding silent Skin COSM1288112 SND1 c.2449G>A p.V817I Substitution - Missense Autonomic_ganglia COSM4021549 PRDM2 c.2621C>T p.T874M Substitution - Missense Stomach COSM1388574 INO80C c.276C>T p.G92G Substitution - coding silent Large_intestine COSM5375177 ARID2 c.3964A>T p.I1322F Substitution - Missense Skin COSM4963995 SETD2 c.891C>T p.S297S Substitution - coding silent Pancreas COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1362057 KMT2D c.2885delG p.G962fs*95 Deletion - Frameshift Large_intestine COSM4642076 NCOR1 c.1960G>A p.V654M Substitution - Missense Large_intestine COSM723653 CHD6 c.2583G>T p.A861A Substitution - coding silent Lung COSM255626 PHF2 c.1261G>C p.E421Q Substitution - Missense Central_nervous_system COSM1203535 DHX30 c.3490G>A p.V1164I Substitution - Missense Large_intestine COSM673640 ADNP c.284A>G p.N95S Substitution - Missense Endometrium COSM5736117 KDM3A c.3171G>T p.M1057I Substitution - Missense Small_intestine COSM4730995 SUV420H1 c.1166_1167insA p.N389fs*6 Insertion - Frameshift Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5783735 SP100 c.1600+5G>C p.? Unknown Breast COSM4066636 EZH1 c.2156C>T p.A719V Substitution - Missense Stomach COSM1611163 AP001011.3_ENST00000320876 c.4115A>G p.N1372S Substitution - Missense Liver COSM4890784 PWWP2B c.404C>T p.T135M Substitution - Missense Upper_aerodigestive_tract COSM3661430 KDM3B c.2628A>T p.K876N Substitution - Missense Liver COSM1738957 ING2 c.120C>G p.H40Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM268500 KMT2A c.6235G>A p.V2079I Substitution - Missense Large_intestine COSM3166302 ATAD2 c.4019T>C p.V1340A Substitution - Missense Oesophagus COSM4462322 ACTR5 c.1241C>T p.P414L Substitution - Missense Skin COSM4678895 DNMT3A c.1706C>T p.P569L Substitution - Missense Large_intestine COSM3957393 GTF3C1 c.4574A>G p.Q1525R Substitution - Missense Lung COSM5463913 PRDM4 c.1610-5A>T p.? Unknown Large_intestine COSM23051 MEN1 c.1546_1547insC p.R516fs*15 Insertion - Frameshift Parathyroid COSM3580217 NCOA1 c.1324G>A p.G442R Substitution - Missense Skin COSM5445905 BPTF c.8052_8053insGCCCCTCCA p.P2684_P2685insAPP Insertion - In frame Thyroid COSM4630279 PHF12 c.1203C>T p.D401D Substitution - coding silent Large_intestine COSM216212 SMC1A c.2369G>A p.R790Q Substitution - Missense Central_nervous_system COSM1366034 RNF17 c.1459G>T p.E487* Substitution - Nonsense Large_intestine COSM4039429 HNF1A c.1769-2A>G p.? Unknown Stomach COSM4730573 STK31 c.3003G>T p.E1001D Substitution - Missense Large_intestine COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5759877 L3MBTL4 c.1362C>T p.N454N Substitution - coding silent Bone COSM4070316 CBX4 c.438G>A p.K146K Substitution - coding silent Stomach COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM303135 RTF1 c.1358C>A p.A453D Substitution - Missense Central_nervous_system COSM3706560 MGA c.7660A>G p.K2554E Substitution - Missense Liver COSM5994018 SMEK2 c.1812A>C p.K604N Substitution - Missense Prostate COSM5721302 TAF1L c.4374C>T p.Y1458Y Substitution - coding silent Skin COSM4799927 SETDB2 c.772T>C p.C258R Substitution - Missense Liver COSM483880 EHMT2 c.1979A>G p.Q660R Substitution - Missense Kidney COSM2698484 MYST2 c.1081C>T p.R361W Substitution - Missense Large_intestine COSM5778250 PRDM16 c.411G>A p.V137V Substitution - coding silent Breast COSM714635 SUV420H2 c.57C>A p.T19T Substitution - coding silent Lung COSM1443783 DAXX c.1884_1885insC p.C629fs*29 Insertion - Frameshift Large_intestine COSM5940083 TDRD1 c.2065G>A p.E689K Substitution - Missense Skin COSM3568265 BAZ2B c.2290G>A p.G764R Substitution - Missense Skin COSM131048 RERE c.1015G>T p.A339S Substitution - Missense Liver COSM3426185 SP100 c.545G>A p.R182Q Substitution - Missense Stomach COSM4622205 PHRF1 c.4442C>A p.P1481Q Substitution - Missense Large_intestine COSM5053536 DMAP1 c.1098G>A p.E366E Substitution - coding silent Stomach COSM5890469 BTAF1 c.5467C>T p.L1823F Substitution - Missense Skin COSM365689 GTF3C1 c.5353C>T p.Q1785* Substitution - Nonsense Lung COSM4104929 BRD1 c.2833G>A p.A945T Substitution - Missense Stomach COSM4444077 SETD5_ENST00000402198 c.2170C>T p.R724C Substitution - Missense Large_intestine COSM711535 SIRT2 c.219C>A p.S73R Substitution - Missense Lung COSM4831696 BRD1 c.646G>A p.V216M Substitution - Missense Cervix COSM3518956 MYST2 c.1823C>T p.P608L Substitution - Missense Skin COSM4624738 PHF21B c.813G>A p.P271P Substitution - coding silent Large_intestine COSM751037 CHD7 c.7234G>C p.E2412Q Substitution - Missense Lung COSM4130750 KDM6B c.2145C>T p.H715H Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1114789 SMARCA1 c.1794A>T p.P598P Substitution - coding silent Endometrium COSM3322592 PHF19 c.1190A>C p.K397T Substitution - Missense Large_intestine COSM5481075 BAZ2A_ENST00000379441 c.2596A>G p.K866E Substitution - Missense Large_intestine COSM1735705 CREBBP c.? p.E1035* Substitution - Nonsense Skin COSM1039191 ZBTB38 c.321C>T p.L107L Substitution - coding silent Endometrium COSM163447 PHF23 c.742G>C p.E248Q Substitution - Missense Breast COSM4070315 CBX4 c.706G>A p.A236T Substitution - Missense Stomach COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM198796 PHF2 c.1468delA p.K492fs*6 Deletion - Frameshift Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1609407 CHD9 c.1231C>T p.Q411* Substitution - Nonsense Liver COSM52797 PBRM1 c.162_163delTA p.Y54fs*1 Deletion - Frameshift Kidney COSM4603233 DIDO1 c.4878_4879insC p.A1627fs*53 Insertion - Frameshift Upper_aerodigestive_tract COSM4515592 TTF2 c.1189_1190CC>TT p.P397F Substitution - Missense Skin COSM390120 ASXL3 c.1631C>G p.T544S Substitution - Missense Lung COSM4411947 KDM6A c.? p.L41fs*17 Unknown Urinary_tract COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5829745 ACTR8 c.779-3_779-2insC p.? Unknown Large_intestine COSM1363129 BAZ2A c.3905A>G p.Q1302R Substitution - Missense Large_intestine COSM4951351 BAZ2A c.308C>A p.S103* Substitution - Nonsense Liver COSM4485156 PHF21A c.28C>G p.L10V Substitution - Missense Skin COSM4002747 PBRM1 c.3597A>T p.P1199P Substitution - coding silent Soft_tissue COSM289942 KMT2C c.2447_2448insA p.Y816fs*1 Insertion - Frameshift Skin COSM5364474 RAI1 c.846G>A p.Q282Q Substitution - coding silent Large_intestine COSM3368239 KMT2A c.8153A>T p.D2718V Substitution - Missense Thyroid COSM127803 DIDO1 c.1740A>C p.T580T Substitution - coding silent Upper_aerodigestive_tract COSM4423456 NCOA6 c.4999A>T p.I1667F Substitution - Missense Central_nervous_system COSM5801036 CHD8 c.5127+1_5127+6delGTAAGG p.? Unknown Breast COSM3780983 ARID2 c.1405G>T p.E469* Substitution - Nonsense Pancreas COSM88760 CREBBP c.3517C>T p.R1173* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4893307 MGA c.8729G>A p.R2910Q Substitution - Missense Skin COSM4515744 SETDB1 c.1287_1288CC>TT p.P430S Substitution - Missense Skin COSM4172347 TET2 c.684A>C p.K228N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5618339 BRD8 c.1469C>T p.T490M Substitution - Missense Breast COSM1061246 BRD8 c.244C>T p.R82* Substitution - Nonsense Endometrium COSM3364114 BRWD3 c.4017G>A p.E1339E Substitution - coding silent Kidney COSM3937515 BPTF c.4081C>T p.P1361S Substitution - Missense Oesophagus COSM4952773 FMR1 c.1822G>T p.G608C Substitution - Missense Liver COSM5364568 AP001011.3_ENST00000320876 c.2150C>T p.A717V Substitution - Missense Prostate COSM3676523 CHD4 c.13C>T p.L5L Substitution - coding silent Oesophagus COSM3961266 EPC2 c.1920A>C p.A640A Substitution - coding silent Lung COSM992 SMARCB1 c.472C>T p.R158* Substitution - Nonsense Central_nervous_system COSM5946518 ARID1A c.6718delG p.A2240fs*27 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM144496 IDH2 c.? p.R172S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5829043 NCOA3 c.3786_3787insCAA p.Q1276_T1277insQ Insertion - In frame Large_intestine COSM4129154 SETD6 c.475A>G p.N159D Substitution - Missense Thyroid COSM1312575 PHF14 c.1730G>A p.R577H Substitution - Missense Urinary_tract COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Prostate COSM5786411 LBR c.710A>T p.D237V Substitution - Missense Breast COSM1664106 SETD1B c.2116C>T p.R706C Substitution - Missense Kidney COSM5466872 TDRD6 c.3960T>G p.F1320L Substitution - Missense Large_intestine COSM376757 SP100 c.574C>G p.P192A Substitution - Missense Lung COSM124696 NCOR1 c.424G>C p.D142H Substitution - Missense Upper_aerodigestive_tract COSM3356714 ALKBH1 c.284G>A p.G95D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5468837 PHF3 c.1606G>C p.E536Q Substitution - Missense Large_intestine COSM1107680 SMARCA2 c.240A>G p.I80M Substitution - Missense Endometrium COSM3804993 PHC2 c.1927G>A p.E643K Substitution - Missense Breast COSM4384362 KMT2C c.671T>C p.L224P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4781632 SMARCA4 c.3484G>A p.G1162S Substitution - Missense Pancreas COSM1205088 EHMT1 c.94G>A p.A32T Substitution - Missense Large_intestine COSM4970096 ZMYM3 c.1258C>A p.H420N Substitution - Missense Central_nervous_system COSM1361983 KMT2D c.11933C>T p.T3978I Substitution - Missense Large_intestine COSM1495589 PBRM1 c.3394G>T p.E1132* Substitution - Nonsense Liver COSM3545254 ASXL1 c.2518C>T p.P840S Substitution - Missense Skin COSM1616545 PHF21B c.1531C>T p.P511S Substitution - Missense Liver COSM4590050 PRDM10 c.1332A>C p.E444D Substitution - Missense Upper_aerodigestive_tract COSM1232740 WHSC1 c.310G>T p.E104* Substitution - Nonsense Large_intestine COSM3855027 NIPBL c.5037G>A p.Q1679Q Substitution - coding silent Stomach COSM4383558 DNMT3A c.1937G>A p.G646E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM328012 ARID1A c.6109C>T p.Q2037* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM140099 CTCF c.1369C>T p.R457* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3869124 RAG2 c.1506G>A p.M502I Substitution - Missense Skin COSM1643903 PHF2 c.833T>C p.I278T Substitution - Missense Stomach COSM4644982 TAF1 c.2328A>G p.L776L Substitution - coding silent Large_intestine COSM3731914 MTA1 c.1344+5delG p.? Unknown Large_intestine COSM4092235 SP110 c.1556G>A p.R519H Substitution - Missense Stomach COSM3817105 CHD2 c.2893A>G p.K965E Substitution - Missense Breast COSM133736 DNMT3A c.1792C>T p.R598* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3656834 TAF1L c.4498C>T p.L1500F Substitution - Missense Skin COSM2078760 PHC2 c.1152C>T p.S384S Substitution - coding silent Large_intestine COSM1184490 BAZ2B c.5812C>T p.R1938* Substitution - Nonsense Large_intestine COSM3419128 PRDM16 c.1080C>T p.H360H Substitution - coding silent Large_intestine COSM345811 JARID2 c.2543A>G p.Q848R Substitution - Missense Lung COSM1298513 SUV420H1 c.1004G>C p.R335T Substitution - Missense Urinary_tract COSM4660629 AICDA c.70C>T p.R24W Substitution - Missense Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5648433 LBR c.1119A>G p.E373E Substitution - coding silent Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM362500 SHPRH c.4052A>T p.N1351I Substitution - Missense Lung COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1583097 DNMT3A c.2147T>A p.V716D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4185422 NSD1 c.842A>G p.D281G Substitution - Missense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1469593 BRWD3 c.2442A>G p.S814S Substitution - coding silent Large_intestine COSM360007 PRDM9 c.1749G>T p.R583S Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1550014 ACTB c.670G>C p.E224Q Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4470978 TDRD7 c.1693C>T p.P565S Substitution - Missense Skin COSM4577230 RBBP4 c.285G>A p.A95A Substitution - coding silent Bone COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1295176 ASH1L c.3574C>T p.H1192Y Substitution - Missense Urinary_tract COSM5434093 HDAC5 c.2345G>A p.G782E Substitution - Missense Oesophagus COSM747174 BAZ1B c.2269C>T p.L757F Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1639817 ARID1A c.3773A>G p.D1258G Substitution - Missense Stomach COSM1716555 ASXL1 c.1954G>A p.G652S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2812130 SETBP1 c.3801C>T p.G1267G Substitution - coding silent Large_intestine COSM37032 EZH2 c.1937A>G p.Y646C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM439084 DOT1L c.1466-1G>T p.? Unknown Breast COSM1093687 TRRAP c.8577G>A p.P2859P Substitution - coding silent Endometrium COSM1158713 CTCF c.3G>T p.M1I Substitution - Missense Pancreas COSM1637743 INOC1 c.4198C>T p.P1400S Substitution - Missense Bone COSM3820881 CHD3 c.4426G>A p.D1476N Substitution - Missense Breast COSM5582741 TDRD5 c.1464C>T p.I488I Substitution - coding silent Skin COSM3794907 CHD9 c.7009G>A p.V2337M Substitution - Missense Urinary_tract COSM1643791 EHMT1 c.2246C>T p.A749V Substitution - Missense Stomach COSM1583426 SETDB1 c.3536C>T p.S1179L Substitution - Missense Endometrium COSM4789106 ZCWPW1 c.448G>T p.A150S Substitution - Missense Liver COSM5685005 ATAD2 c.2736C>A p.I912I Substitution - coding silent Soft_tissue COSM4384656 KDM5A c.2333A>G p.N778S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4569929 CREBBP c.2172T>C p.F724F Substitution - coding silent Skin COSM3813413 ING1 c.777G>A p.E259E Substitution - coding silent Breast COSM3783116 KDM6B c.3104G>T p.R1035L Substitution - Missense Prostate COSM5664436 ZBTB4 c.1993A>G p.R665G Substitution - Missense Soft_tissue COSM307364 TET2 c.1226_1229delCTCC p.P409fs*17 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM149089 SP110 c.383C>T p.A128V Substitution - Missense Prostate COSM98343 TDRD3 c.688C>G p.L230V Substitution - Missense Upper_aerodigestive_tract COSM745477 TIF1 c.1772C>T p.P591L Substitution - Missense Lung COSM4953371 KMT2D c.13567G>A p.A4523T Substitution - Missense Liver COSM249803 DNMT3A c.2128T>A p.C710S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Pancreas COSM69842 BPTF c.2758G>C p.V920L Substitution - Missense Ovary COSM96519 ASXL1 c.1776_1840del65 p.Q592fs*5 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM107494 TRRAP c.2165C>T p.S722F Substitution - Missense Skin COSM87107 TET2 c.2604T>G p.F868L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM110790 TET2 c.1602_1605delAAAC p.N535fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM215752 SMARCA4 c.3694G>A p.G1232S Substitution - Missense Pancreas COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Central_nervous_system COSM256417 BRDT c.244C>T p.R82C Substitution - Missense Large_intestine COSM274174 BTAF1 c.23G>A p.R8H Substitution - Missense Endometrium COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Large_intestine COSM346877 SND1 c.318G>A p.G106G Substitution - coding silent Lung COSM459484 KMT2D c.12040C>T p.Q4014* Substitution - Nonsense Cervix COSM918664 ERCC6 c.2360G>A p.R787K Substitution - Missense Endometrium COSM682725 BRDT c.574G>C p.V192L Substitution - Missense Lung COSM1027522 ZMYND8 c.1952C>T p.A651V Substitution - Missense Endometrium COSM1021318 MSH6 c.4026G>A p.R1342R Substitution - coding silent Endometrium COSM1025729 ASXL1 c.2592C>T p.D864D Substitution - coding silent Endometrium COSM744880 ING3 c.368C>A p.S123Y Substitution - Missense Lung COSM723658 CHD6 c.4932A>G p.T1644T Substitution - coding silent Lung COSM895915 TDRKH c.925G>T p.E309* Substitution - Nonsense Endometrium COSM1602144 ARID1A c.3299T>G p.L1100R Substitution - Missense Liver COSM1067086 PRDM9 c.1631G>T p.R544M Substitution - Missense Endometrium COSM969929 SRCAP c.2617A>G p.M873V Substitution - Missense Endometrium COSM1061236 BRD8 c.2464G>A p.E822K Substitution - Missense Endometrium COSM1114787 SMARCA1 c.1852C>T p.R618C Substitution - Missense Large_intestine COSM1108250 TAF1L c.705G>A p.M235I Substitution - Missense Endometrium COSM1117731 HCFC1 c.3426C>T p.T1142T Substitution - coding silent Endometrium COSM1136875 TCF20 c.4880A>G p.K1627R Substitution - Missense Kidney COSM1130112 SIRT7 c.414C>T p.A138A Substitution - coding silent Prostate COSM1137102 SETD5_ENST00000402198 c.34T>C p.S12P Substitution - Missense Kidney COSM1088654 STK31 c.2277C>T p.G759G Substitution - coding silent Large_intestine COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1227873 STK31 c.2259G>T p.Q753H Substitution - Missense Large_intestine COSM1240860 ARID2 c.205_206insG p.E71fs*4 Insertion - Frameshift Oesophagus COSM1239136 INOC1 c.4183C>T p.R1395* Substitution - Nonsense Oesophagus COSM1220345 PHF15 c.2302G>T p.G768C Substitution - Missense Large_intestine COSM1180098 KMT2C c.1005T>A p.P335P Substitution - coding silent Soft_tissue COSM1180098 KMT2C c.1005T>A p.P335P Substitution - coding silent Soft_tissue COSM1161673 KMT2C c.6263A>T p.N2088I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1160986 PHF21A c.1487C>A p.A496E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1285404 HNF1A c.1011C>T p.S337S Substitution - coding silent Ovary COSM1287489 PYGO1 c.919C>T p.P307S Substitution - Missense Autonomic_ganglia COSM1300054 ZMYM5 c.585T>C p.P195P Substitution - coding silent Urinary_tract COSM1384427 MBTD1 c.605C>T p.T202I Substitution - Missense Large_intestine COSM1387351 CHD3 c.1612delC p.R540fs*16 Deletion - Frameshift Large_intestine COSM1448350 TRIM24 c.641G>T p.G214V Substitution - Missense Large_intestine COSM1342136 ZMYM4 c.4103G>T p.C1368F Substitution - Missense Large_intestine COSM1566684 PBRM1 c.2211A>G p.T737T Substitution - coding silent Soft_tissue COSM1608493 PYGO1 c.521A>T p.Q174L Substitution - Missense Liver COSM1476838 CHD4 c.2629C>T p.R877W Substitution - Missense Breast COSM1612616 KDM4B c.1074G>T p.W358C Substitution - Missense Liver COSM1637539 YY1 c.1069T>C p.F357L Substitution - Missense Bone COSM1671590 NIPBL c.7201G>T p.G2401* Substitution - Nonsense Lung COSM1668050 LMNA c.1901G>T p.G634V Substitution - Missense Large_intestine COSM1698021 EYA4 c.1236G>A p.M412I Substitution - Missense Skin COSM1725054 KMT2A c.10240_10241insC p.S3416fs*10 Insertion - Frameshift Liver COSM1741305 KAT2B c.1199C>G p.S400* Substitution - Nonsense Urinary_tract COSM2243438 RERE c.2942delC p.P981fs*27 Deletion - Frameshift Large_intestine COSM2739021 NCOR1 c.2833C>T p.P945S Substitution - Missense Prostate COSM2859907 TIF1 c.2150delA p.N718fs*14 Deletion - Frameshift Large_intestine COSM3053504 SMEK2 c.378T>A p.P126P Substitution - coding silent Upper_aerodigestive_tract COSM3148794 DNMT1 c.2211C>T p.A737A Substitution - coding silent Large_intestine COSM3236568 HCFC1 c.2004G>A p.T668T Substitution - coding silent Stomach COSM3341173 NSD1 c.4961C>G p.S1654C Substitution - Missense Prostate COSM3380114 NCOA1 c.3630A>C p.T1210T Substitution - coding silent Pancreas COSM3408215 MBD4 c.571C>T p.P191S Substitution - Missense Central_nervous_system COSM3484206 LBR c.70G>A p.E24K Substitution - Missense Skin COSM3492903 RERE c.2873C>T p.S958F Substitution - Missense Skin COSM3508893 SRCAP c.977G>T p.R326L Substitution - Missense Skin COSM3615956 NIPBL c.4950A>T p.Q1650H Substitution - Missense Skin COSM3642765 TRRAP c.3119C>T p.P1040L Substitution - Missense Skin COSM3519937 AKAP1 c.1574C>T p.S525L Substitution - Missense Stomach COSM3701885 ATRX c.4833T>C p.V1611V Substitution - coding silent Liver COSM3707762 CHD6 c.3784G>A p.V1262I Substitution - Missense Liver COSM3727987 CHD9 c.4738A>T p.R1580W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3720362 DNMT3A c.2191T>G p.F731V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3733018 ARID1A c.6292_6293insG p.E2098fs*52 Insertion - Frameshift Stomach COSM3732333 ADNP c.1039A>T p.M347L Substitution - Missense Stomach COSM3741919 CREBBP c.1941+2T>C p.? Unknown Liver COSM3746251 MEN1 c.1021T>G p.W341G Substitution - Missense Liver COSM3799434 ASXL1 c.3269G>C p.R1090T Substitution - Missense Urinary_tract COSM3807590 SFMBT2 c.2552A>G p.D851G Substitution - Missense Breast COSM3829020 L3MBTL3 c.1303A>C p.T435P Substitution - Missense Breast COSM3839169 DNMT3A c.793G>A p.V265M Substitution - Missense Breast COSM3828015 NIPBL c.6454C>T p.R2152W Substitution - Missense Breast COSM3822538 DOT1L c.3399C>T p.N1133N Substitution - coding silent Breast COSM3877216 PHF14 c.2092G>A p.A698T Substitution - Missense Stomach COSM3900858 CHD7 c.1351G>A p.G451S Substitution - Missense Stomach COSM3972885 SMARCB1 c.1129C>T p.R377C Substitution - Missense Large_intestine COSM4032864 PRDM11 c.431C>T p.A144V Substitution - Missense Stomach COSM3995246 MLL5 c.897G>C p.E299D Substitution - Missense Kidney COSM4114049 ZBTB38 c.1256G>C p.G419A Substitution - Missense Stomach COSM4068913 BPTF c.2634A>G p.Q878Q Substitution - coding silent Stomach COSM4170403 KMT2D c.12565_12587del23 p.G4189fs*20 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4259551 SRCAP c.5436C>A p.S1812S Substitution - coding silent Large_intestine COSM4399590 NCOA6 c.1295C>T p.P432L Substitution - Missense Skin COSM4408911 DNMT3A c.1474+4A>C p.? Unknown Oesophagus COSM4587653 TRRAP c.7564A>G p.T2522A Substitution - Missense Bone COSM4527660 SFMBT2 c.1480G>A p.E494K Substitution - Missense Skin COSM4589879 KIAA2026_ENST00000399933 c.1744_1745insA p.T582fs*2 Insertion - Frameshift Skin COSM4576347 ASH1L c.891A>G p.V297V Substitution - coding silent Bone COSM4585723 NSD1 c.1149C>T p.I383I Substitution - coding silent Large_intestine COSM4476618 EZH1 c.2081C>T p.P694L Substitution - Missense Skin COSM4745555 KDM2B c.1080_1081GT>AG p.C361G Substitution - Missense Large_intestine COSM4732667 TCF20 c.3133C>A p.R1045R Substitution - coding silent Large_intestine COSM4713949 PHF16 c.323G>A p.R108Q Substitution - Missense Large_intestine COSM4732890 TDRD1 c.547C>T p.Q183* Substitution - Nonsense Large_intestine COSM4764782 SP140_ENST00000392045 c.301G>A p.E101K Substitution - Missense Stomach COSM4608100 TAF1 c.465G>T p.L155F Substitution - Missense Adrenal_gland COSM4793547 MECOM c.132C>T p.C44C Substitution - coding silent Liver COSM4789955 TDG c.69A>T p.Q23H Substitution - Missense Liver COSM4807041 TTF2 c.804T>A p.S268R Substitution - Missense Pancreas COSM4884445 SETD5_ENST00000402198 c.765G>T p.K255N Substitution - Missense Upper_aerodigestive_tract COSM4881509 PHF8 c.430G>T p.V144L Substitution - Missense Upper_aerodigestive_tract COSM4903762 PHF21A c.1858T>A p.S620T Substitution - Missense Skin COSM4853020 KDM5C c.93C>T p.I31I Substitution - coding silent Cervix COSM4835417 CHD4 c.145C>G p.P49A Substitution - Missense Cervix COSM4853467 GTF3C1 c.5542G>A p.E1848K Substitution - Missense Cervix COSM4837567 VPS72 c.1047C>A p.L349L Substitution - coding silent Cervix COSM4848441 CHD4 c.1797G>C p.K599N Substitution - Missense Cervix COSM4816636 CREBBP c.386C>T p.S129L Substitution - Missense Cervix COSM4960889 NCOR1 c.1095G>A p.R365R Substitution - coding silent Liver COSM4992936 KMT2C c.6294C>T p.P2098P Substitution - coding silent Skin COSM4987204 NSD1 c.1840G>T p.V614L Substitution - Missense Soft_tissue COSM4973670 CHD6 c.7345G>A p.E2449K Substitution - Missense Oesophagus COSM5024911 BPTF c.6461A>T p.Q2154L Substitution - Missense Breast COSM5034422 L3MBTL4 c.366A>C p.L122F Substitution - Missense Oesophagus COSM5027251 KAT6B c.594C>T p.V198V Substitution - coding silent Breast COSM5014392 MECOM c.1338T>G p.N446K Substitution - Missense Kidney COSM5023716 ARID1A c.4109A>G p.K1370R Substitution - Missense Bone COSM5007728 IDH1 c.628A>G p.S210G Substitution - Missense Large_intestine COSM5038863 NSD1 c.6664_6665ins18 p.P2230_G2231insPVPLPP Insertion - In frame Liver COSM5376808 PHF11 c.949A>G p.R317G Substitution - Missense Skin COSM5363996 HDAC5 c.2405G>A p.R802H Substitution - Missense Large_intestine COSM5375819 CHD4 c.1432_1433CC>TT p.P478F Substitution - Missense Skin COSM5506220 ARID1B c.6496delC p.P2167fs*8 Deletion - Frameshift Biliary_tract COSM5450061 BRD8 c.711C>T p.G237G Substitution - coding silent Large_intestine COSM5433061 CHD2 c.106C>T p.Q36* Substitution - Nonsense Oesophagus COSM5452040 TP53BP1 c.5093_5094delAG p.E1698fs*6 Deletion - Frameshift Large_intestine COSM5624227 KDM5A c.572A>C p.K191T Substitution - Missense Oesophagus COSM5650195 BAHCC1 c.2153G>T p.R718L Substitution - Missense Oesophagus COSM5751501 PHF6 c.673_674insT p.R225fs*8 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5727062 TAF1 c.511G>A p.D171N Substitution - Missense Skin COSM5767853 BAHD1 c.1694G>T p.R565L Substitution - Missense Breast COSM5581449 KDM1B c.187C>T p.P63S Substitution - Missense Skin COSM5663215 PHRF1 c.120G>A p.G40G Substitution - coding silent Soft_tissue COSM5692551 UBR7 c.1009A>T p.T337S Substitution - Missense Soft_tissue COSM5555348 SFMBT1 c.1048G>T p.G350C Substitution - Missense Prostate COSM5574213 NCOR1 c.3360G>C p.E1120D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5547758 MTA1 c.1140delG p.A382fs*49 Deletion - Frameshift Prostate COSM5779770 ATAD2 c.3429G>T p.Q1143H Substitution - Missense Breast COSM5794313 SETBP1 c.487-2A>G p.? Unknown Breast COSM5825578 ARID1A c.4757C>T p.S1586F Substitution - Missense Pancreas COSM5800336 TDRD6 c.1887A>T p.L629F Substitution - Missense Breast COSM5799884 ZMYM6 c.3064T>C p.L1022L Substitution - coding silent Breast COSM5905265 KAT6B c.5252C>T p.P1751L Substitution - Missense Skin COSM5990676 ARID2 c.1073C>T p.T358I Substitution - Missense Liver COSM5969361 RBBP4 c.84C>T p.T28T Substitution - coding silent Upper_aerodigestive_tract COSM5996575 PHF3 c.2578G>A p.G860R Substitution - Missense Prostate COSM27521 MSH6 c.? p.G971E Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM914352 ASXL1 c.? p.S729fs*15 Unknown Haematopoietic_and_lymphoid_tissue COSM1169701 ASXL1 c.? p.E635fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4606373 PHF6 c.(787_789)T>C p.F263L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1738144 EZH2 c.? p.S605R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87296 IKZF1 c.1-?_421+?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5945803 BAP1 c.? p.N349fs*13 Frameshift Pleura COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM96440 EP300 c.256C>T p.R86* Substitution - Nonsense Large_intestine COSM4385421 ATRX c.3065G>A p.R1022Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1583148 DNMT3A c.2486A>T p.K829I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM310696 DOT1L c.1999G>T p.D667Y Substitution - Missense Soft_tissue COSM267253 PRDM9 c.1759C>T p.R587W Substitution - Missense Large_intestine COSM4187843 METTL21D c.478A>G p.K160E Substitution - Missense Kidney COSM4695839 KIAA2026_ENST00000399933 c.6026C>T p.S2009F Substitution - Missense Large_intestine COSM463500 TDRD5 c.2193G>T p.E731D Substitution - Missense Kidney COSM4999034 BRD8 c.2545A>G p.M849V Substitution - Missense Pancreas COSM1473877 RBBP4 c.51C>T p.I17I Substitution - coding silent Breast COSM235407 SMARCA4 c.3147C>T p.P1049P Substitution - coding silent Skin COSM1483711 NCOA3 c.3178C>T p.L1060F Substitution - Missense Breast COSM473043 MBTD1 c.598T>A p.F200I Substitution - Missense Kidney COSM1678809 CREBBP c.2678C>A p.S893* Substitution - Nonsense Ovary COSM5393634 CBX7 c.516C>T p.L172L Substitution - coding silent Skin COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Soft_tissue COSM4170121 TET2 c.2209_2210insA p.H737fs*17 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1023488 KDM3A c.505G>T p.E169* Substitution - Nonsense Endometrium COSM345162 DIDO1 c.5893C>G p.Q1965E Substitution - Missense Lung COSM5832049 KMT2D c.11890_11891delAG p.Q3965fs*98 Deletion - Frameshift Breast COSM5718191 RERE c.46G>A p.D16N Substitution - Missense Skin COSM4465302 PRDM15 c.1376C>T p.P459L Substitution - Missense Skin COSM3751642 PWWP2B c.292C>G p.R98G Substitution - Missense Thyroid COSM3733522 NCOR1 c.59A>C p.Y20S Substitution - Missense Upper_aerodigestive_tract COSM263648 SHPRH c.2011C>T p.R671C Substitution - Missense Large_intestine COSM3733522 NCOR1 c.59A>C p.Y20S Substitution - Missense Upper_aerodigestive_tract COSM1756620 SMC1A c.907G>A p.E303K Substitution - Missense Urinary_tract COSM1675049 TAF3 c.29T>C p.L10S Substitution - Missense Large_intestine COSM4850558 TCF20 c.1486G>C p.D496H Substitution - Missense Cervix COSM249560 KMT2C c.5053G>T p.A1685S Substitution - Missense Thyroid COSM3656839 TAF1L c.3900C>T p.L1300L Substitution - coding silent Skin COSM3487589 ARID1A c.5863C>T p.L1955L Substitution - coding silent Skin COSM1363773 CHD4 c.699G>A p.A233A Substitution - coding silent Large_intestine COSM4949879 ARID1A c.2740delG p.G914fs*5 Deletion - Frameshift Liver COSM390099 BRD7 c.122G>T p.S41I Substitution - Missense Lung COSM1635196 KMT2C c.2304A>G p.S768S Substitution - coding silent Liver COSM5593628 TRRAP c.5663A>T p.H1888L Substitution - Missense Skin COSM4448719 EP300 c.1203delA p.H402fs*29 Deletion - Frameshift Skin COSM923584 KMT2A c.5022C>T p.P1674P Substitution - coding silent Endometrium COSM3551331 AIRE c.350C>T p.A117V Substitution - Missense Stomach COSM4836393 SETBP1 c.3720G>C p.Q1240H Substitution - Missense Cervix COSM166838 TET2 c.5666C>T p.P1889L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM110786 TET2 c.4884T>A p.Y1628* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM907727 ARID1A c.4417C>T p.Q1473* Substitution - Nonsense Endometrium COSM3719016 TET2 c.3643G>T p.E1215* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3852230 HDAC3 c.660C>T p.N220N Substitution - coding silent Stomach COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3987178 YEATS4 c.284A>C p.E95A Substitution - Missense Kidney COSM3742381 SMARCD2 c.1033A>T p.K345* Substitution - Nonsense Liver COSM3973834 ZMYM3 c.3313G>A p.A1105T Substitution - Missense Central_nervous_system COSM5697624 PRDM14 c.1091T>C p.V364A Substitution - Missense Soft_tissue COSM1756924 CREBBP c.6513G>A p.L2171L Substitution - coding silent Urinary_tract COSM88016 TRIM24 c.3027G>T p.R1009S Substitution - Missense Central_nervous_system COSM3738487 TET2 c.? p.H1881N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM903690 SMYD2 c.493G>A p.G165R Substitution - Missense Stomach COSM2732609 PHF2 c.1517C>A p.P506H Substitution - Missense Large_intestine COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4764499 IDH1 c.853T>C p.Y285H Substitution - Missense Stomach COSM1267586 TDRD6 c.522G>A p.L174L Substitution - coding silent Stomach COSM1327406 BRWD1 c.3899G>T p.R1300I Substitution - Missense Ovary COSM5413320 ARID2 c.4252G>T p.G1418* Substitution - Nonsense Skin COSM3697414 PRDM13 c.603G>A p.A201A Substitution - coding silent Stomach COSM4159839 PRDM9 c.2042C>G p.T681S Substitution - Missense Upper_aerodigestive_tract COSM3589887 MECOM c.899C>T p.S300F Substitution - Missense Skin COSM3850430 KDM3B c.555A>G p.Q185Q Substitution - coding silent Stomach COSM4406931 HDAC10 c.819G>A p.G273G Substitution - coding silent Liver COSM5412754 HDAC6 c.1366G>A p.E456K Substitution - Missense Skin COSM5628362 RBBP7 c.1111G>A p.G371R Substitution - Missense Oesophagus COSM166346 DNMT3A c.? p.?fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM4041979 KDM5A c.1121A>G p.K374R Substitution - Missense Stomach COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Prostate COSM254810 KMT2A c.4368C>A p.H1456Q Substitution - Missense Urinary_tract COSM446970 ATXN7 c.648A>C p.S216S Substitution - coding silent Breast COSM5566053 LMNA c.1303C>T p.R435C Substitution - Missense Prostate COSM5901176 SP140_ENST00000392045 c.616G>A p.G206S Substitution - Missense Skin COSM74378 DIDO1 c.1246G>A p.D416N Substitution - Missense Ovary COSM1469456 ATRX c.4273A>G p.R1425G Substitution - Missense Large_intestine COSM1757060 KDM3A c.1205G>A p.R402K Substitution - Missense Urinary_tract COSM1406109 SP140_ENST00000392045 c.1058-1G>A p.? Unknown Large_intestine COSM1719038 HDAC7 c.413C>T p.P138L Substitution - Missense Skin COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM312118 KDM4C c.1589G>C p.S530T Substitution - Missense Soft_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1666862 ARID1A c.? p.? Unknown Endometrium COSM4073746 DNMT1 c.3691G>T p.G1231C Substitution - Missense Liver COSM4162024 KMT2C c.946A>T p.T316S Substitution - Missense Upper_aerodigestive_tract COSM4300068 EP300 c.1681C>T p.Q561* Substitution - Nonsense Cervix COSM4890483 GTF3C1 c.523G>T p.D175Y Substitution - Missense Upper_aerodigestive_tract COSM1184392 KMT2C c.4188A>C p.K1396N Substitution - Missense Large_intestine COSM3381496 ARID1B c.2286G>C p.Q762H Substitution - Missense Pancreas COSM5718730 RTF1 c.256C>T p.R86C Substitution - Missense Skin COSM4018355 KMT2A c.11893C>T p.R3965W Substitution - Missense Oesophagus COSM1308205 EP300 c.2485C>T p.Q829* Substitution - Nonsense Urinary_tract COSM3973934 ATRX c.1513G>T p.E505* Substitution - Nonsense Central_nervous_system COSM53159 TET2 c.? p.P1194A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1610661 BPTF c.5288T>G p.F1763C Substitution - Missense Liver COSM27395 HNF1A c.502C>T p.R168C Substitution - Missense Central_nervous_system COSM1388277 SMCHD1 c.379delA p.K128fs*3 Deletion - Frameshift Large_intestine COSM29150 KDM6A c.3220A>G p.R1074G Substitution - Missense Kidney COSM5793283 SETDB1 c.2330+8G>C p.? Unknown Breast COSM3296211 MBD5 c.3609C>T p.P1203P Substitution - coding silent Skin COSM5991574 IDH2 c.433G>A p.G145R Substitution - Missense Skin COSM5722703 CBX8 c.1004C>T p.A335V Substitution - Missense Skin COSM5607844 ARID1A c.1358C>T p.P453L Substitution - Missense Skin COSM4085898 BAZ2B c.348G>A p.W116* Substitution - Nonsense Stomach COSM117336 TAF1 c.956C>G p.S319C Substitution - Missense Ovary COSM255001 KDM6A c.560T>G p.L187* Substitution - Nonsense Urinary_tract COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5986717 PRDM1 c.? p.E17D Substitution - Missense Salivary_gland COSM33535 EYA4 c.901G>A p.D301N Substitution - Missense Large_intestine COSM2166347 KAT5 c.405C>T p.S135S Substitution - coding silent Large_intestine COSM1008165 BAZ2B c.1116C>A p.T372T Substitution - coding silent Endometrium COSM4725182 SETDB1 c.198A>G p.T66T Substitution - coding silent Liver COSM5384105 IDH2 c.163G>A p.G55S Substitution - Missense Skin COSM98971 TRRAP c.355C>T p.R119C Substitution - Missense Upper_aerodigestive_tract COSM1292801 SET c.641C>T p.P214L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM22622 MEN1 c.620delG p.G208fs*16 Deletion - Frameshift Gastrointestinal_tract_(site_indeterminate) COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM219047 TET2 c.? p.Q1532fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM3764560 CREBBP c.4447A>T p.I1483F Substitution - Missense Central_nervous_system COSM290579 KIAA2026_ENST00000399933 c.320_321insG p.V108fs*104 Insertion - Frameshift Large_intestine COSM3933052 SIRT6 c.752A>C p.D251A Substitution - Missense Urinary_tract COSM4841464 SETDB1 c.3427G>T p.D1143Y Substitution - Missense Cervix COSM972508 CTCF c.1895delT p.I632fs*10 Deletion - Frameshift Endometrium COSM4665046 BAHCC1 c.1628G>A p.R543H Substitution - Missense Large_intestine COSM5985384 SRCAP c.6365G>T p.G2122V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1244197 ACTR6 c.621A>C p.E207D Substitution - Missense Oesophagus COSM4480237 PRMT2 c.23C>T p.P8L Substitution - Missense Skin COSM4633389 KAT5 c.1153G>A p.V385M Substitution - Missense Large_intestine COSM1324592 SETBP1 c.3182T>C p.M1061T Substitution - Missense Ovary COSM4767403 MEN1 c.?_?del? p.V173fs*? Deletion - Frameshift Thyroid COSM5005134 TRIM28 c.1448G>A p.R483H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM35408 KAT6B c.3291A>G p.E1097E Substitution - coding silent Large_intestine COSM3022266 ARID1B c.1954C>A p.H652N Substitution - Missense Large_intestine COSM2080389 ZMYM4 c.4489C>T p.R1497C Substitution - Missense Stomach COSM4085349 MBD5 c.3520A>G p.K1174E Substitution - Missense Stomach COSM4964491 KDM3B c.2322C>T p.G774G Substitution - coding silent Pancreas COSM1713784 DIDO1 c.3082C>T p.P1028S Substitution - Missense Skin COSM3941928 MLL5 c.2199C>T p.H733H Substitution - coding silent Oesophagus COSM3372269 KDM6A c.2302A>G p.K768E Substitution - Missense Thyroid COSM4003461 NSD1 c.6829T>C p.L2277L Substitution - coding silent Soft_tissue COSM955462 BAZ1A c.2758G>A p.E920K Substitution - Missense Endometrium COSM206736 ASH1L c.8683delA p.T2895fs*44 Deletion - Frameshift Biliary_tract COSM1250501 DNMT3B c.1454G>A p.R485Q Substitution - Missense Oesophagus COSM88738 CREBBP c.4337G>T p.R1446L Substitution - Missense Central_nervous_system COSM5883267 BAZ2B c.4360G>C p.D1454H Substitution - Missense Large_intestine COSM5944169 TET2 c.2764_2767delCATA p.H922fs*30 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM206736 ASH1L c.8683delA p.T2895fs*44 Deletion - Frameshift Stomach COSM3979168 KMT2A c.4332+8A>C p.? Unknown Lung COSM5810364 RAG2 c.1000G>A p.D334N Substitution - Missense Liver COSM4384264 EZH2 c.1834C>T p.Q612* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM393089 AICDA c.511C>T p.R171C Substitution - Missense Large_intestine COSM3594797 SMARCC1 c.994C>T p.P332S Substitution - Missense Skin COSM34192 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM3365362 BAP1 c.1985T>A p.I662N Substitution - Missense Kidney COSM3555550 BRD1 c.329C>T p.T110M Substitution - Missense Skin COSM443949 NCOA3 c.241C>A p.Q81K Substitution - Missense Breast COSM4186530 ATF2 c.1246A>G p.K416E Substitution - Missense Kidney COSM1254583 IDH1 c.305T>C p.I102T Substitution - Missense Large_intestine COSM1047103 PBRM1 c.477C>T p.D159D Substitution - coding silent Endometrium COSM298514 SMARCA1 c.2713C>T p.R905C Substitution - Missense Large_intestine COSM3473722 TDRKH c.394C>T p.P132S Substitution - Missense Skin COSM78693 TRDMT1 c.464G>T p.G155V Substitution - Missense Ovary COSM4848624 CREBBP c.3955C>T p.R1319* Substitution - Nonsense Cervix COSM5364725 KDM4B c.1500delC p.L502fs*17 Deletion - Frameshift Large_intestine COSM1034779 TCF20 c.939G>A p.Q313Q Substitution - coding silent Stomach COSM253866 TP53BP1 c.2689G>T p.E897* Substitution - Nonsense Urinary_tract COSM395297 NSD1 c.2049G>A p.K683K Substitution - coding silent Lung COSM25322 KDM3B c.3933A>G p.T1311T Substitution - coding silent Upper_aerodigestive_tract COSM1318346 DOT1L c.2328G>C p.P776P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1450169 CBX3 c.36delA p.K14fs*23 Deletion - Frameshift Large_intestine COSM432836 CHD8 c.5190G>T p.V1730V Substitution - coding silent Breast COSM1369646 BAZ1A c.4226delG p.R1409fs*11 Deletion - Frameshift Large_intestine COSM4664722 ATXN7 c.1113G>A p.Q371Q Substitution - coding silent Large_intestine COSM4485442 SETD5_ENST00000402198 c.2932C>T p.R978W Substitution - Missense Skin COSM211501 SCML2 c.1354T>A p.F452I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1583135 DNMT3A c.2635A>G p.N879D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM22859 KDM5A c.3230_3231insC p.T1078fs*12 Insertion - Frameshift Skin COSM5026610 PRDM1 c.1662G>A p.L554L Substitution - coding silent Breast COSM1669083 PCGF1 c.355G>T p.G119C Substitution - Missense Large_intestine COSM1669083 PCGF1 c.355G>T p.G119C Substitution - Missense Large_intestine COSM366464 GABRG1 c.1222G>T p.E408* Substitution - Nonsense Lung COSM264147 TP53BP1 c.2209G>T p.E737* Substitution - Nonsense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM485095 KMT2C c.3309T>A p.C1103* Substitution - Nonsense Central_nervous_system COSM3845467 BRWD3 c.2248C>T p.R750* Substitution - Nonsense Breast COSM4493531 TRRAP c.4170C>T p.L1390L Substitution - coding silent Skin COSM5603173 CHD4 c.2762C>T p.P921L Substitution - Missense Skin COSM320193 EYA3 c.37A>C p.K13Q Substitution - Missense Lung COSM2965442 KDM6A c.3331C>T p.R1111C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1318935 DNMT3A c.2153C>T p.P718L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1569293 TAF1L c.2617C>T p.R873C Substitution - Missense Liver COSM1028964 DIDO1 c.6248_6249insT p.E2084fs*9 Insertion - Frameshift Endometrium COSM5888157 EP400 c.2452C>T p.R818C Substitution - Missense Upper_aerodigestive_tract COSM1580933 GABRG1 c.1241G>A p.S414N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5428097 RSF1 c.279+8G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1412989 C20orf20 c.403G>A p.D135N Substitution - Missense Large_intestine COSM4064357 RAI1 c.3907A>T p.K1303* Substitution - Nonsense Stomach COSM3508226 GTF3C1 c.2833C>T p.R945C Substitution - Missense Skin COSM992 SMARCB1 c.472C>T p.R158* Substitution - Nonsense Skin COSM243050 ARID2 c.939T>A p.L313L Substitution - coding silent Prostate COSM3494932 CHD8 c.3785C>T p.S1262F Substitution - Missense Skin COSM5430819 DNMT3A c.1407G>T p.E469D Substitution - Missense Oesophagus COSM70523 DPF2 c.227C>A p.A76D Substitution - Missense Ovary COSM5880227 SMYD4 c.625C>T p.P209S Substitution - Missense Skin COSM1312742 JHDM1D c.1673A>G p.N558S Substitution - Missense Urinary_tract COSM41742 TET2 c.5152G>T p.V1718L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3660337 PHC3 c.1446T>G p.S482R Substitution - Missense Liver COSM3508914 SRCAP c.6659C>T p.S2220L Substitution - Missense Skin COSM3963476 DNMT3B c.225C>A p.D75E Substitution - Missense Lung COSM3725950 BAZ2A_ENST00000379441 c.204G>A p.G68G Substitution - coding silent Lung COSM3479318 TDRD5 c.2220G>A p.W740* Substitution - Nonsense Skin COSM1479276 NCOR1 c.660G>A p.E220E Substitution - coding silent Breast COSM3599585 PRDM5 c.1474C>T p.P492S Substitution - Missense Skin COSM480152 SETD2 c.3487T>C p.Y1163H Substitution - Missense Kidney COSM4605969 INOC1 c.830G>A p.R277H Substitution - Missense Upper_aerodigestive_tract COSM5191115 ACTR8 c.1506G>A p.S502S Substitution - coding silent Large_intestine COSM1017617 SP140_ENST00000392045 c.2536C>A p.L846M Substitution - Missense Endometrium COSM1184378 KMT2C c.13013T>C p.V4338A Substitution - Missense Large_intestine COSM4877847 CHD1 c.1834G>C p.G612R Substitution - Missense Prostate COSM28786 KDM6A c.997C>T p.Q333* Substitution - Nonsense Salivary_gland COSM3154276 PRDM1 c.425A>G p.N142S Substitution - Missense Large_intestine COSM5733936 JARID2 c.782G>A p.R261H Substitution - Missense Pancreas COSM4532567 PRDM9 c.1897G>A p.E633K Substitution - Missense Skin COSM4663236 ARID1B c.745_747delGGC p.G261delG Deletion - In frame Kidney COSM4747306 BAZ2A_ENST00000379441 c.5239delA p.S1747fs*5 Deletion - Frameshift Stomach COSM1672694 HDAC2 c.461T>C p.V154A Substitution - Missense Breast COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Upper_aerodigestive_tract COSM1469993 UTY c.3955T>G p.F1319V Substitution - Missense Large_intestine COSM1583155 DNMT3A c.? p.R635Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384658 KDM5A c.2225G>T p.W742L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6018302 BRD1 c.1591G>T p.D531Y Substitution - Missense Skin COSM3253669 BAG6 c.2460G>A p.V820V Substitution - coding silent Large_intestine COSM307055 MEN1 c.654G>T p.R218R Substitution - coding silent Central_nervous_system COSM28783 KDM6A c.2090delA p.N697fs*18 Deletion - Frameshift Kidney COSM225885 KMT2C c.1139G>T p.R380L Substitution - Missense Soft_tissue COSM5571863 PHIP c.2313C>T p.V771V Substitution - coding silent Prostate COSM1129094 MORF4L1 c.218T>C p.L73P Substitution - Missense Prostate COSM97131 IDH1 c.532G>A p.V178I Substitution - Missense Thyroid COSM438184 MBD1 c.640C>T p.R214C Substitution - Missense Breast COSM1333450 PRDM2 c.2248C>A p.L750I Substitution - Missense Large_intestine COSM5054882 CREBBP c.5261G>A p.S1754N Substitution - Missense Stomach COSM96481 CREBBP c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM111693 KAT6B c.3289_3291delGAA p.E1097delE Deletion - In frame Soft_tissue COSM3993109 SETD2 c.5896A>T p.K1966* Substitution - Nonsense Kidney COSM4829833 CHD7 c.8589T>C p.A2863A Substitution - coding silent Cervix COSM4634806 EP300 c.5791C>T p.Q1931* Substitution - Nonsense Large_intestine COSM2007122 KMT2D c.5544delC p.A1849fs*25 Deletion - Frameshift Stomach COSM4714175 PHRF1 c.2028T>C p.S676S Substitution - coding silent Large_intestine COSM3832372 KMT2C c.2742T>G p.S914R Substitution - Missense Breast COSM1635033 MLL5 c.1772T>G p.L591R Substitution - Missense Liver COSM5009123 KMT2C c.7197G>T p.K2399N Substitution - Missense Large_intestine COSM5063211 MYST3 c.4806C>T p.S1602S Substitution - coding silent Stomach COSM22636 MEN1 c.258_261delCGCC p.I86fs*32 Deletion - Frameshift Parathyroid COSM3402274 SRCAP c.3968C>G p.P1323R Substitution - Missense Central_nervous_system COSM222555 POGZ c.517G>A p.V173M Substitution - Missense Skin COSM4791438 MYST3 c.4007C>T p.P1336L Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5018510 NCOA6 c.5150C>T p.A1717V Substitution - Missense Soft_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5773944 TTF2 c.1992G>A p.V664V Substitution - coding silent Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1583109 DNMT3A c.2318T>G p.L773R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4765726 TCF20 c.5827_5828insC p.L1943fs*>19 Insertion - Frameshift Stomach COSM1733616 ATF2 c.1477G>A p.V493I Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1127789 ALKBH3 c.684C>G p.D228E Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM84971 DAXX c.458A>G p.N153S Substitution - Missense Pancreas COSM1087659 KMT2C c.947C>G p.T316S Substitution - Missense Prostate COSM1569348 EHMT1 c.182C>T p.A61V Substitution - Missense Large_intestine COSM316441 UTY c.3430C>G p.L1144V Substitution - Missense Lung COSM3732828 ARID1A c.125_126insAGC p.A45_E46insA Insertion - In frame Stomach COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM750808 NCOA2 c.3037G>C p.E1013Q Substitution - Missense Lung COSM1209383 HDAC4 c.1733C>T p.P578L Substitution - Missense Large_intestine COSM1667761 PRMT6 c.566C>T p.A189V Substitution - Missense Large_intestine COSM302137 EP400 c.8181A>G p.Q2727Q Substitution - coding silent Large_intestine COSM1676099 MTA2 c.809C>T p.A270V Substitution - Missense Large_intestine COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM5372498 PHF21A c.82C>T p.P28S Substitution - Missense Skin COSM315458 SMYD4 c.982delG p.E328fs*25 Deletion - Frameshift Soft_tissue COSM980588 CBX1 c.79C>A p.L27I Substitution - Missense Endometrium COSM4122410 SETD7 c.491T>C p.M164T Substitution - Missense Stomach COSM2154943 HDAC4 c.579C>T p.H193H Substitution - coding silent Central_nervous_system COSM2166351 KAT5 c.522G>A p.Q174Q Substitution - coding silent Upper_aerodigestive_tract COSM5611078 TRRAP c.5819C>T p.P1940L Substitution - Missense Skin COSM348312 HELLS c.1138C>A p.L380I Substitution - Missense Lung COSM4740589 VPS72 c.312G>T p.P104P Substitution - coding silent Large_intestine COSM5962787 PCGF1 c.56-9T>C p.? Unknown Breast COSM3692780 SIRT6 c.956C>T p.P319L Substitution - Missense Large_intestine COSM5621405 NSD1 c.6451A>G p.K2151E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3069746 DHX30 c.3318C>T p.D1106D Substitution - coding silent Bone COSM4410851 SUV39H2 c.634delA p.R213fs*2 Deletion - Frameshift Kidney COSM2802619 KDM6B c.2651C>T p.A884V Substitution - Missense Thyroid COSM3944558 CDY1 c.1523C>T p.A508V Substitution - Missense Lung COSM3853952 NSD1 c.2927C>A p.A976D Substitution - Missense Stomach COSM25323 RBBP7 c.827A>G p.N276S Substitution - Missense Upper_aerodigestive_tract COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Skin COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM52980 EZH2 c.2069G>A p.R690H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM50881 BAP1 c.781C>T p.Q261* Substitution - Nonsense Breast COSM88737 CREBBP c.4305T>A p.D1435E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87277 EZH2 c.2081A>G p.H694R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM97040 ASXL1 c.2485C>T p.Q829* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM116504 KMT2C c.5429T>G p.L1810W Substitution - Missense Ovary COSM112087 TDG c.286_287insA p.I98fs*6 Insertion - Frameshift Skin COSM121632 PRDM9 c.321C>T p.A107A Substitution - coding silent Upper_aerodigestive_tract COSM133007 ARID1A c.5844_5845insACAGAGC p.H1949fs*16 Insertion - Frameshift Large_intestine COSM133737 DNMT3A c.2207G>A p.R736H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM215749 SMARCA4 c.2461G>A p.E821K Substitution - Missense Kidney COSM238563 TRRAP c.6023C>T p.P2008L Substitution - Missense Prostate COSM253092 RUVBL1 c.514-3delT p.? Unknown Skin COSM297759 KDM6B c.1955delC p.Q654fs*46 Deletion - Frameshift Large_intestine COSM290377 KMT2D c.8455_8456insG p.V2819fs*9 Insertion - Frameshift Large_intestine COSM319974 DNMT3A c.77G>T p.G26V Substitution - Missense Lung COSM456029 KDM4C c.362G>A p.R121H Substitution - Missense Large_intestine COSM453956 ATAD2 c.3768G>A p.R1256R Substitution - coding silent Breast COSM478164 CHD6 c.6076G>T p.D2026Y Substitution - Missense Kidney COSM473253 BPTF c.8520T>A p.G2840G Substitution - coding silent Kidney COSM977050 PHF12 c.2359+4C>T p.? Unknown Endometrium COSM1600766 SETDB1 c.2503A>G p.K835E Substitution - Missense Liver COSM693062 ATF7IP c.2614G>C p.V872L Substitution - Missense Lung COSM1018604 ATAD2B_ENST00000238789 c.4252G>T p.D1418Y Substitution - Missense Endometrium COSM1026868 CHD6 c.3838G>A p.E1280K Substitution - Missense Skin COSM734365 GABRG1 c.209C>T p.S70L Substitution - Missense Skin COSM913228 BRDT c.613G>A p.A205T Substitution - Missense Endometrium COSM908354 PRDM16 c.1425C>T p.S475S Substitution - coding silent Endometrium COSM895008 PRDM2 c.1627G>T p.E543* Substitution - Nonsense Endometrium COSM1602229 PRDM16 c.3689A>C p.K1230T Substitution - Missense Liver COSM970131 MYST1 c.607A>G p.K203E Substitution - Missense Endometrium COSM1315834 ASXL1 c.1972G>T p.G658* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1088163 HDAC9 c.1225C>T p.R409* Substitution - Nonsense Endometrium COSM1088620 STK31 c.630G>T p.E210D Substitution - Missense Endometrium COSM1099603 WHSC1L1 c.261G>A p.Q87Q Substitution - coding silent Endometrium COSM1209391 HDAC7 c.269C>T p.A90V Substitution - Missense Large_intestine COSM1583146 DNMT3A c.2504C>T p.T835M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1220353 PHF2 c.854G>A p.R285Q Substitution - Missense Large_intestine COSM1214640 MBD5 c.1562T>A p.I521N Substitution - Missense Large_intestine COSM1570294 EZH2 c.2228_2229insGCCCCG p.G743_I744insPR Insertion - In frame Haematopoietic_and_lymphoid_tissue COSM1313189 ACTB c.1043C>T p.S348L Substitution - Missense Urinary_tract COSM1319510 PHF6 c.415G>T p.E139* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1328265 BRD8 c.1566C>T p.A522A Substitution - coding silent Ovary COSM1320842 BRDT c.1119T>G p.F373L Substitution - Missense Ovary COSM1388720 SETBP1 c.2947C>T p.P983S Substitution - Missense Skin COSM1368991 CHD8 c.4342C>T p.R1448W Substitution - Missense Large_intestine COSM1353909 PHF21A c.408C>T p.L136L Substitution - coding silent Large_intestine COSM1566684 PBRM1 c.2211A>G p.T737T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1616995 ZBTB38 c.178_179insC p.N60fs*23 Insertion - Frameshift Liver COSM1581232 KMT2C c.11374C>A p.Q3792K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1698223 ARID1B c.64C>G p.P22A Substitution - Missense Skin COSM1699332 SND1 c.1219C>T p.R407* Substitution - Nonsense Skin COSM1989223 MBD6 c.920delC p.T309fs*68 Deletion - Frameshift Large_intestine COSM2007253 KMT2D c.3349delG p.A1117fs*27 Deletion - Frameshift Biliary_tract COSM2154660 TDRD10 c.574G>A p.V192I Substitution - Missense Central_nervous_system COSM2828776 SETD5_ENST00000402198 c.1371T>G p.A457A Substitution - coding silent Large_intestine COSM3008239 PRDM5 c.389C>T p.A130V Substitution - Missense Bone COSM3365395 PBRM1 c.1568T>G p.M523R Substitution - Missense Kidney COSM3378513 MBD1 c.1237C>T p.R413* Substitution - Nonsense Pancreas COSM3488876 ZMYM1 c.2593C>T p.L865L Substitution - coding silent Skin COSM3508981 SETD1A c.2085G>C p.Q695H Substitution - Missense Skin COSM3417473 RNF17 c.337G>A p.D113N Substitution - Missense Large_intestine COSM3440602 KAT6B c.573C>T p.F191F Substitution - coding silent Skin COSM3633866 TRIM24 c.3106C>T p.R1036W Substitution - Missense Skin COSM3627949 TDRD6 c.867T>C p.G289G Substitution - coding silent Skin COSM3547669 ADNP c.1867C>T p.L623F Substitution - Missense Skin COSM3555270 PHF21B c.635C>T p.P212L Substitution - Missense Skin COSM3524760 SMCHD1 c.3048T>A p.G1016G Substitution - coding silent Skin COSM3656608 SMARCA2 c.4173C>T p.I1391I Substitution - coding silent Large_intestine COSM3693968 SMARCB1 c.473G>A p.R158Q Substitution - Missense Large_intestine COSM3704898 PRDM2 c.199T>A p.S67T Substitution - Missense Liver COSM3763348 MYST3 c.2982G>A p.P994P Substitution - coding silent Large_intestine COSM3779984 KIAA1045 c.886G>T p.E296* Substitution - Nonsense Urinary_tract COSM3850435 KDM3B c.1263A>G p.A421A Substitution - coding silent Stomach COSM4007094 BRD3 c.198C>G p.I66M Substitution - Missense Urinary_tract COSM4064264 SMYD4 c.2223C>T p.G741G Substitution - coding silent Stomach COSM4170417 KMT2D c.7933C>T p.R2645* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4386774 EPC2 c.455A>G p.N152S Substitution - Missense Lung COSM4598330 BAHCC1 c.5215A>C p.T1739P Substitution - Missense Upper_aerodigestive_tract COSM4414671 TDRD7 c.1518T>G p.P506P Substitution - coding silent Kidney COSM4484061 WHSC1 c.2766C>T p.F922F Substitution - coding silent Skin COSM4527037 CBX4 c.1437G>A p.K479K Substitution - coding silent Skin COSM4505523 CHD9 c.6955C>T p.P2319S Substitution - Missense Skin COSM4589684 CREBBP c.4478_4479insA p.P1494fs*25 Insertion - Frameshift Skin COSM4580863 DOT1L c.1335G>A p.A445A Substitution - coding silent Bone COSM4534515 SP140_ENST00000392045 c.2095G>A p.G699R Substitution - Missense Skin COSM4591270 KMT2C c.2512G>A p.G838S Substitution - Missense Upper_aerodigestive_tract COSM4694951 KDM4A c.699C>A p.S233R Substitution - Missense Large_intestine COSM4695057 KDM6B c.3424G>A p.V1142I Substitution - Missense Large_intestine COSM4713972 PHF2 c.2100G>A p.P700P Substitution - coding silent Large_intestine COSM4609277 MLL5 c.794C>A p.S265* Substitution - Nonsense Adrenal_gland COSM4611777 ADNP c.3047_3048insA p.A1017fs*6 Insertion - Frameshift Large_intestine COSM4608132 RAI1 c.223G>A p.A75T Substitution - Missense Adrenal_gland COSM4767400 ATRX c.6793_6794ins10 p.L2266fs*6 Insertion - Frameshift Adrenal_gland COSM4792180 PHF12 c.474A>T p.E158D Substitution - Missense Liver COSM4802926 ASXL3 c.322G>T p.A108S Substitution - Missense Liver COSM4834823 TP53BP1 c.1355C>G p.S452C Substitution - Missense Cervix COSM4856913 BAZ1B c.2675C>T p.A892V Substitution - Missense Cervix COSM4830006 KMT2A c.3742G>T p.A1248S Substitution - Missense Cervix COSM4830188 CHD3 c.2281G>A p.D761N Substitution - Missense Cervix COSM4949788 ARID1A c.5131delG p.L1712fs*2 Deletion - Frameshift Liver COSM4969188 SMARCA4 c.1538G>A p.R513Q Substitution - Missense Biliary_tract COSM4996080 TCF20 c.5843C>T p.A1948V Substitution - Missense Upper_aerodigestive_tract COSM4978800 PRDM9 c.937G>T p.A313S Substitution - Missense Oesophagus COSM5020142 TET2 c.1088C>T p.P363L Substitution - Missense Soft_tissue COSM5059865 PBRM1 c.1631A>G p.D544G Substitution - Missense Stomach COSM5154636 CDYL2 c.1363-8C>T p.? Unknown Skin COSM5346911 ARID1A c.2191_2194delGGCC p.G731fs*10 Deletion - Frameshift Endometrium COSM5417674 SMARCD1 c.1007A>G p.H336R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5576020 KMT2C c.10565T>A p.I3522N Substitution - Missense Stomach COSM5644592 BAZ1B c.4416C>T p.A1472A Substitution - coding silent Oesophagus COSM5636110 SP110 c.764A>G p.N255S Substitution - Missense Oesophagus COSM5759845 GATAD2B c.1353G>T p.K451N Substitution - Missense Bone COSM5761912 SIRT3 c.1165C>T p.R389W Substitution - Missense Pancreas COSM5722740 ASXL3 c.2525C>T p.S842L Substitution - Missense Skin COSM5616583 PRMT8 c.979+3G>A p.? Unknown Lung COSM5589790 BAZ1A c.3853C>T p.R1285C Substitution - Missense Skin COSM5606649 MYST3 c.1689C>T p.F563F Substitution - coding silent Skin COSM5698498 EYA4 c.389A>T p.Y130F Substitution - Missense Soft_tissue COSM5780685 TDRD1 c.3292G>C p.V1098L Substitution - Missense Breast COSM5945036 TET2 c.2872C>T p.Q958* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5967204 BAP1 c.1983+1G>A p.? Unknown Salivary_gland COSM5963338 TAF3 c.2503G>A p.A835T Substitution - Missense Breast COSM5985544 DNMT3A c.2695delC p.R899fs*7 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4169545 TET2 c.? p.L1111* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM22632 MEN1 c.? p.L152W Substitution - Missense Parathyroid COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41711 ASXL1 c.2661C>TG p.K888fs*6 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM4167267 TET2 c.? p.F1287L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM132981 ASXL1 c.? p.W796* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM22627 MEN1 c.? p.Q209* Substitution - Nonsense Parathyroid COSM5347233 ARID1A c.?_?del? p.C884fs*? Deletion - Frameshift Endometrium COSM4805931 SMARCC1 c.1809T>C p.T603T Substitution - coding silent Liver COSM21481 HNF1A c.872_873insC p.G292fs*25 Insertion - Frameshift Liver COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM1333459 PRDM2 c.4270delA p.N1426fs*3 Deletion - Frameshift Stomach COSM87117 TET2 c.3409+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41644 TET2 c.1648C>T p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM86976 IKZF1 c.1-?_40+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM165126 TRIM24 c.2607C>G p.F869L Substitution - Missense Breast COSM1325443 BRD4 c.2031G>A p.K677K Substitution - coding silent Ovary COSM2235517 ARID1A c.4231C>T p.Q1411* Substitution - Nonsense Salivary_gland COSM5351783 BRD4 c.1108G>A p.A370T Substitution - Missense Kidney COSM427249 MGMT c.435C>A p.C145* Substitution - Nonsense Breast COSM484631 PHF14 c.1713C>T p.S571S Substitution - coding silent Kidney COSM1640229 RTF1 c.1496A>G p.Y499C Substitution - Missense Stomach COSM142307 ASXL1 c.2030_2046del17 p.P677fs*35 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM429983 EED c.619C>T p.L207L Substitution - coding silent Soft_tissue COSM703233 SETD1A c.814C>T p.P272S Substitution - Missense Lung COSM3733522 NCOR1 c.59A>C p.Y20S Substitution - Missense Upper_aerodigestive_tract COSM1433382 KDM3B c.3911T>A p.L1304H Substitution - Missense Large_intestine COSM954431 CHD8 c.4403G>A p.G1468E Substitution - Missense Endometrium COSM3782157 HDAC4 c.92C>T p.T31M Substitution - Missense Pancreas COSM3911511 EYA2 c.741G>A p.G247G Substitution - coding silent Skin COSM20436 TAF1L c.1994delA p.K665fs*4 Deletion - Frameshift Large_intestine COSM941734 BAZ2A c.4481G>A p.R1494Q Substitution - Missense Endometrium COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM4721045 RERE c.3929G>A p.R1310Q Substitution - Missense Large_intestine COSM4148777 TP53BP1 c.5026G>C p.E1676Q Substitution - Missense Thyroid COSM5967307 ATRX c.2408_2408delT p.S804fs*18 Deletion - Frameshift Salivary_gland COSM4831891 UHRF1 c.252C>A p.L84L Substitution - coding silent Cervix COSM3064244 BRD1 c.1003G>A p.V335M Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1722309 MYST3 c.5079A>C p.P1693P Substitution - coding silent Large_intestine COSM4794850 PRDM15 c.1104G>A p.R368R Substitution - coding silent Liver COSM4060951 GLYR1 c.1536G>A p.A512A Substitution - coding silent Stomach COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Large_intestine COSM2062545 ACTR6 c.265T>G p.L89V Substitution - Missense Large_intestine COSM5046614 RERE c.2100C>A p.D700E Substitution - Missense Oesophagus COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM294804 SETD5_ENST00000402198 c.625C>T p.R209W Substitution - Missense Large_intestine COSM1757130 NIPBL c.3379G>A p.D1127N Substitution - Missense Urinary_tract COSM5568241 SP140_ENST00000392045 c.1178C>T p.S393L Substitution - Missense Prostate COSM1708715 GLYR1 c.275G>A p.R92K Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4590120 KDM4B c.2128A>G p.K710E Substitution - Missense Upper_aerodigestive_tract COSM1476874 YEATS4 c.489A>C p.L163F Substitution - Missense Breast COSM3793750 ARID4A c.1690G>A p.E564K Substitution - Missense Urinary_tract COSM4796801 KDM2A c.1564-1G>A p.? Unknown Liver COSM5633297 ALKBH1 c.624A>C p.G208G Substitution - coding silent Oesophagus COSM4384302 EZH2 c.338G>A p.W113* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM43417 TET2 c.2746C>T p.Q916* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5944519 TET2 c.4852_4853insA p.Y1618fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM285282 SP140_ENST00000392045 c.2116G>A p.D706N Substitution - Missense Large_intestine COSM3512602 CDYL2 c.1413G>A p.L471L Substitution - coding silent Skin COSM3906620 SMARCA2 c.4150A>G p.T1384A Substitution - Missense Stomach COSM4469078 HELLS c.157C>T p.R53C Substitution - Missense Skin COSM5677566 HDAC6 c.3421G>C p.E1141Q Substitution - Missense Soft_tissue COSM1600294 ASXL3 c.877G>A p.E293K Substitution - Missense Central_nervous_system COSM4612922 SMYD1 c.128delT p.F44fs*41 Deletion - Frameshift Large_intestine COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM220521 EP300 c.4399T>A p.Y1467N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1411070 ASXL1 c.1500C>T p.A500A Substitution - coding silent Large_intestine COSM3402623 NCOR1 c.658G>A p.E220K Substitution - Missense Breast COSM925966 SIRT3 c.996G>T p.E332D Substitution - Missense Endometrium COSM5947667 KMT2D c.1112+2_1112+7delTAAGTG p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3973888 ATRX c.6327-2A>G p.? Unknown Central_nervous_system COSM1738138 TET2 c.? p.T221fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM133722 DNMT3A c.1816C>T p.Q606* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM220975 CREBBP c.3712G>T p.E1238* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1756619 SMC1A c.1254+1G>A p.? Unknown Urinary_tract COSM1630066 NCOR1 c.515C>T p.S172L Substitution - Missense Central_nervous_system COSM1162010 MPHOSPH8 c.2458-2A>T p.? Unknown Kidney COSM1406133 SP100 c.2274_2275insA p.K762fs*21 Insertion - Frameshift Large_intestine COSM4674658 CREBBP c.335T>C p.M112T Substitution - Missense Large_intestine COSM199169 TRRAP c.11397C>T p.F3799F Substitution - coding silent Skin COSM1745166 DNMT3B c.1456_1478del23 p.L489fs*57 Deletion - Frameshift Urinary_tract COSM5618277 HDAC5 c.578C>T p.S193L Substitution - Missense Breast COSM4669568 CBX4 c.1158G>A p.P386P Substitution - coding silent Skin COSM1318847 ASXL1 c.2197C>T p.Q733* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1385957 PHF23 c.335delC p.P112fs*20 Deletion - Frameshift Large_intestine COSM940068 KMT2D c.4021C>T p.R1341W Substitution - Missense Large_intestine COSM1753989 BRD8 c.671C>T p.S224F Substitution - Missense Upper_aerodigestive_tract COSM4993084 MYST3 c.5739C>T p.S1913S Substitution - coding silent Skin COSM314463 PRMT3 c.916A>T p.I306F Substitution - Missense Soft_tissue COSM3089635 EHMT1 c.1144G>A p.E382K Substitution - Missense Large_intestine COSM43412 TET2 c.?_?del? p.?fs Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM470684 TP53BP1 c.2447T>G p.L816R Substitution - Missense Kidney COSM1639815 ARID1A c.3148G>A p.D1050N Substitution - Missense Stomach COSM4629955 KMT2D c.7160C>T p.A2387V Substitution - Missense Large_intestine COSM1469444 ATRX c.5995C>T p.P1999S Substitution - Missense Large_intestine COSM4034549 PHRF1 c.3042A>G p.G1014G Substitution - coding silent Stomach COSM728091 ZBTB38 c.3385C>T p.Q1129* Substitution - Nonsense Lung COSM3487576 ARID1A c.2094C>T p.S698S Substitution - coding silent Skin COSM96456 EP300 c.? p.P925L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3841469 DIDO1 c.1389C>A p.I463I Substitution - coding silent Breast COSM3604081 GABRG1 c.1341C>T p.F447F Substitution - coding silent Skin COSM3403487 AP001011.3_ENST00000320876 c.1934G>T p.G645V Substitution - Missense Central_nervous_system COSM5410673 BRD3 c.37C>T p.P13S Substitution - Missense Skin COSM1602446 KDM4A c.3030T>C p.L1010L Substitution - coding silent Liver COSM4512297 ACTL6B c.898C>T p.R300C Substitution - Missense Skin COSM1326359 SP100 c.1884G>C p.K628N Substitution - Missense Ovary COSM1469587 BRWD3 c.3793A>G p.T1265A Substitution - Missense Large_intestine COSM5032513 ZMYM2 c.2493+6T>C p.? Unknown Oesophagus COSM1477108 MPHOSPH8 c.1802G>T p.G601V Substitution - Missense Breast COSM1349125 KAT6B c.3258A>G p.E1086E Substitution - coding silent Large_intestine COSM1065 SMARCB1 c.950delG p.G317fs*3 Deletion - Frameshift Soft_tissue COSM5413444 SETD2 c.2809C>T p.P937S Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM438520 SMARCA4 c.3770_3771insC p.E1258fs*1 Insertion - Frameshift Breast COSM326624 TAF1 c.5536C>T p.Q1846* Substitution - Nonsense Lung COSM3739324 TRIM66 c.2633C>T p.P878L Substitution - Missense Liver COSM4383566 DNMT3A c.1578C>A p.Y526* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3391424 IDH1 c.480C>T p.D160D Substitution - coding silent Pancreas COSM3355894 GATAD2B c.679T>A p.S227T Substitution - Missense Breast COSM1694920 PRDM5 c.1430G>A p.R477K Substitution - Missense Skin COSM4706978 NIPBL c.3625A>G p.I1209V Substitution - Missense Large_intestine COSM3772192 SRCAP c.511C>A p.R171R Substitution - coding silent Pancreas COSM2154468 PRDM16 c.1119G>A p.K373K Substitution - coding silent Central_nervous_system COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5635793 PRMT10 c.2206A>G p.I736V Substitution - Missense Oesophagus COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3484907 ACTA1 c.582C>T p.I194I Substitution - coding silent Skin COSM932747 TRIM66 c.3647T>C p.V1216A Substitution - Missense Endometrium COSM219229 ATAD2 c.3196G>T p.D1066Y Substitution - Missense Breast COSM1193586 SP110 c.154C>G p.L52V Substitution - Missense Lung COSM4443135 MECP2 c.344G>A p.R115H Substitution - Missense Large_intestine COSM422742 BAP1 c.1981A>T p.K661* Substitution - Nonsense Kidney COSM309421 BAHD1 c.1886G>T p.R629L Substitution - Missense Soft_tissue COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM1180697 PYGO2 c.448delC p.Q150fs*11 Deletion - Frameshift Large_intestine COSM1030699 BRWD1 c.3469T>A p.W1157R Substitution - Missense Endometrium COSM1241242 HCFC1 c.141C>T p.G47G Substitution - coding silent Oesophagus COSM3514553 NCOR1 c.6206C>T p.S2069F Substitution - Missense Skin COSM221058 KMT2D c.7501C>T p.R2501* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5600200 PHF17 c.984C>T p.C328C Substitution - coding silent Skin COSM4498934 SIRT4 c.530C>T p.P177L Substitution - Missense Skin COSM4689200 GTF3C4 c.523G>A p.D175N Substitution - Missense Large_intestine COSM4146853 EP400 c.6646A>C p.T2216P Substitution - Missense Upper_aerodigestive_tract COSM254837 NCOR1 c.1446G>C p.K482N Substitution - Missense Urinary_tract COSM3525444 ASXL3 c.1904G>A p.G635E Substitution - Missense Skin COSM4146853 EP400 c.6646A>C p.T2216P Substitution - Missense Upper_aerodigestive_tract COSM1348593 JMJD1C c.2222G>T p.R741I Substitution - Missense Large_intestine COSM3811363 SETD8 c.609G>T p.R203S Substitution - Missense Breast COSM5352315 EP300 c.? p.M187L Substitution - Missense Endometrium COSM255007 KDM6A c.3341C>T p.S1114L Substitution - Missense Urinary_tract COSM4384775 KDM2B c.2672C>T p.T891I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4855263 DIDO1 c.4253C>A p.A1418E Substitution - Missense Cervix COSM5043972 TRIM66 c.1162G>C p.E388Q Substitution - Missense Liver COSM4733145 TET2 c.286C>T p.R96C Substitution - Missense Large_intestine COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4458763 CBX2 c.1098C>T p.P366P Substitution - coding silent Skin COSM4092804 ATAD2B_ENST00000238789 c.2366A>G p.H789R Substitution - Missense Stomach COSM438128 SETBP1 c.4762C>G p.R1588G Substitution - Missense Breast COSM1099933 MYST3 c.3122C>T p.T1041I Substitution - Missense Endometrium COSM1215017 MGA c.6751A>C p.I2251L Substitution - Missense Large_intestine COSM4564348 PHF8 c.1037_1038CC>TT p.A346V Substitution - Missense Skin COSM52966 DNMT3A c.? p.K468R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM896932 ASH1L c.3449C>T p.A1150V Substitution - Missense Endometrium COSM6014857 ATF7IP c.1930G>T p.A644S Substitution - Missense Skin COSM1569293 TAF1L c.2617C>T p.R873C Substitution - Missense Liver COSM480162 SETD2 c.3364C>T p.R1122C Substitution - Missense Kidney COSM5642879 RBBP4 c.664A>G p.I222V Substitution - Missense Oesophagus COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4792751 LMNB2 c.287G>T p.R96L Substitution - Missense Liver COSM219085 ASXL1 c.? p.Q588* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5020058 BAP1 c.1407C>T p.S469S Substitution - coding silent Soft_tissue COSM957508 ARID2 c.4270G>T p.G1424C Substitution - Missense Lung COSM5492394 PRDM14 c.14G>A p.R5Q Substitution - Missense Biliary_tract COSM5634243 ASH1L c.2706G>T p.K902N Substitution - Missense Oesophagus COSM256042 DNMT3A c.2669G>A p.G890D Substitution - Missense Breast COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4094432 MSH6 c.856G>A p.E286K Substitution - Missense Stomach COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5476820 ASH2L c.756C>A p.P252P Substitution - coding silent Large_intestine COSM1169689 TET2 c.? p.D1242fs*11 Frameshift Haematopoietic_and_lymphoid_tissue COSM21486 HNF1A c.872delC p.P291fs*51 Deletion - Frameshift Large_intestine COSM1581248 KMT2C c.6275A>T p.D2092V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1756791 MBD6 c.1708C>T p.Q570* Substitution - Nonsense Urinary_tract COSM1697478 PHF3 c.1006C>T p.L336F Substitution - Missense Skin COSM3973920 ATRX c.4160C>G p.S1387* Substitution - Nonsense Central_nervous_system COSM1294462 KIAA1045 c.937G>C p.E313Q Substitution - Missense Cervix COSM5879945 KDM6A c.3408G>C p.M1136I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6004914 BRD1 c.2342C>G p.P781R Substitution - Missense Prostate COSM5973920 SMYD1 c.201G>A p.Q67Q Substitution - coding silent Upper_aerodigestive_tract COSM3723034 PHF2 c.2976C>A p.T992T Substitution - coding silent Liver COSM1658758 TET2 c.3356T>G p.L1119* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM160549 DNMT1 c.2961C>G p.A987A Substitution - coding silent Breast COSM1423580 SETD2 c.815T>G p.V272G Substitution - Missense Skin COSM50784 KDM5B c.4715A>G p.K1572R Substitution - Missense Breast COSM6000281 MBD6 c.217-10C>A p.? Unknown Prostate COSM1018611 HDAC4 c.3043C>T p.R1015C Substitution - Missense Endometrium COSM28786 KDM6A c.997C>T p.Q333* Substitution - Nonsense Oesophagus COSM693066 ATF7IP c.382G>T p.E128* Substitution - Nonsense Lung COSM2894217 ATF2 c.933A>G p.R311R Substitution - coding silent Large_intestine COSM2158471 JMJD1C c.3408T>A p.I1136I Substitution - coding silent Oesophagus COSM4019325 PRDM10 c.2440A>G p.M814V Substitution - Missense Stomach COSM5045788 L3MBTL3 c.1964G>A p.R655K Substitution - Missense Oesophagus COSM5824554 AKAP1 c.168A>C p.E56D Substitution - Missense Liver COSM5641287 RAI1 c.4346G>A p.R1449Q Substitution - Missense Oesophagus COSM5991626 KMT2C c.? p.I155T Substitution - Missense Large_intestine COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Soft_tissue COSM310681 DNMT3B c.1603G>A p.V535I Substitution - Missense Large_intestine COSM4959421 MBD3 c.374G>A p.S125N Substitution - Missense Liver COSM4832307 SP140_ENST00000392045 c.977-1G>A p.? Unknown Cervix COSM1609128 GTF3C1 c.3429+7G>A p.? Unknown Liver COSM1106560 BRD3 c.523T>C p.S175P Substitution - Missense Endometrium COSM4807559 MBD4 c.542G>A p.R181Q Substitution - Missense Pancreas COSM256419 BRWD3 c.3242C>A p.S1081Y Substitution - Missense Large_intestine COSM5926312 TDRD5 c.2183C>T p.P728L Substitution - Missense Skin COSM1751676 AIRE c.1118C>T p.A373V Substitution - Missense Pancreas COSM29386 SMARCB1 c.796_986del191 p.? Unknown Soft_tissue COSM5742127 CBX7 c.667A>T p.T223S Substitution - Missense Small_intestine COSM5574984 SMARCD2 c.470G>A p.G157E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1220352 PHF2 c.2099C>T p.P700L Substitution - Missense Large_intestine COSM5483181 ZMYM4 c.424T>C p.F142L Substitution - Missense Large_intestine COSM2886915 SUV420H2 c.130C>T p.R44* Substitution - Nonsense Pancreas COSM4689674 HDAC2 c.32_33delAA p.K11fs*8 Deletion - Frameshift Large_intestine COSM3717861 AP001011.3_ENST00000320876 c.4742G>T p.S1581I Substitution - Missense Liver COSM5987059 DNMT1 c.2743G>A p.E915K Substitution - Missense Salivary_gland COSM1028986 DIDO1 c.2176C>T p.R726C Substitution - Missense Endometrium COSM231573 DNMT3A c.1776C>G p.Y592* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM2152566 TTF2 c.57C>T p.V19V Substitution - coding silent Central_nervous_system COSM3419570 BRDT c.858G>A p.K286K Substitution - coding silent Large_intestine COSM3667867 CHD9 c.7739C>T p.P2580L Substitution - Missense Liver COSM5144877 SMEK2 c.1694C>A p.S565Y Substitution - Missense Large_intestine COSM2859874 TIF1 c.1494T>A p.P498P Substitution - coding silent Large_intestine COSM3993109 SETD2 c.5896A>T p.K1966* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4013115 TRDMT1 c.713T>G p.I238S Substitution - Missense Stomach COSM96481 CREBBP c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM469790 CHD8 c.1733G>A p.R578H Substitution - Missense Kidney COSM4635453 ACTL6B c.460C>T p.L154F Substitution - Missense Large_intestine COSM22648 MEN1 c.1682T>C p.M561T Substitution - Missense Parathyroid COSM5599122 BAP1 c.819C>T p.T273T Substitution - coding silent Skin COSM4628255 SETD7 c.65C>T p.P22L Substitution - Missense Large_intestine COSM446336 ZCWPW2 c.878G>A p.G293E Substitution - Missense Breast COSM4604331 KDM5A c.1413C>G p.L471L Substitution - coding silent Upper_aerodigestive_tract COSM5730605 SETD2 c.3909_3920del12 p.L1304_P1307delLPIP Deletion - In frame Breast COSM5932630 KAT6B c.5114C>T p.S1705F Substitution - Missense Skin COSM211717 TET2 c.3662G>A p.C1221Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4880462 PHIP c.3180T>C p.D1060D Substitution - coding silent Large_intestine COSM3973928 ATRX c.1960C>T p.R654* Substitution - Nonsense Central_nervous_system COSM1334660 ASH1L c.3665delA p.K1222fs*11 Deletion - Frameshift Breast COSM4100176 DIDO1 c.6326C>T p.A2109V Substitution - Missense Prostate COSM1348868 SFMBT2 c.2670C>T p.A890A Substitution - coding silent Large_intestine COSM69188 KDM5C c.1688_1689insT p.L564fs*58 Insertion - Frameshift Ovary COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4752387 RING1 c.314C>T p.A105V Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1240713 ZMYM3 c.1276A>G p.S426G Substitution - Missense Oesophagus COSM5728485 CBX6 c.480C>T p.I160I Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4756275 DIDO1 c.1046A>T p.D349V Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5021088 CREBBP c.5052C>T p.S1684S Substitution - coding silent Soft_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3091893 SMARCA2 c.3485G>A p.R1162H Substitution - Missense Large_intestine COSM5716097 GTF3C4 c.1360T>A p.F454I Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5021754 HDAC7 c.543T>G p.S181R Substitution - Missense Bone COSM1223277 RBBP4 c.143A>G p.Q48R Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4101920 AIRE c.539-1G>T p.? Unknown Stomach COSM5404344 L3MBTL3 c.1103C>T p.P368L Substitution - Missense Skin COSM5578300 CHD8 c.3388C>T p.R1130C Substitution - Missense Skin COSM1969437 BTAF1 c.304A>C p.N102H Substitution - Missense Large_intestine COSM4541006 STK31 c.2929G>A p.E977K Substitution - Missense Skin COSM302137 EP400 c.8181A>G p.Q2727Q Substitution - coding silent Kidney COSM302985 PRDM9 c.2525G>A p.R842H Substitution - Missense Central_nervous_system COSM1162991 KDM2B c.345G>A p.E115E Substitution - coding silent Pancreas COSM150036 CDYL c.4A>G p.T2A Substitution - Missense Lung COSM164846 TDRKH c.1219A>T p.S407C Substitution - Missense Breast COSM2251484 SMEK1 c.1019C>T p.A340V Substitution - Missense Large_intestine COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5440950 PRDM9 c.1620T>A p.I540I Substitution - coding silent Oesophagus COSM1635857 EYA1 c.1388C>T p.A463V Substitution - Missense Liver COSM3973954 ATRX c.383T>C p.V128A Substitution - Missense Central_nervous_system COSM1315553 HDAC6 c.3344A>G p.H1115R Substitution - Missense Urinary_tract COSM4587649 TRRAP c.5088G>A p.L1696L Substitution - coding silent Bone COSM3545558 NCOA6 c.4067T>C p.L1356P Substitution - Missense Skin COSM5369624 KIAA1045 c.1077G>C p.K359N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1227530 SRCAP c.8665A>C p.T2889P Substitution - Missense Large_intestine COSM5925589 KMT2A c.2252C>T p.P751L Substitution - Missense Skin COSM149089 SP110 c.383C>T p.A128V Substitution - Missense Soft_tissue COSM1745750 ZMYND11 c.247C>T p.H83Y Substitution - Missense Urinary_tract COSM4795036 CHD9 c.7893G>A p.R2631R Substitution - coding silent Liver COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Endometrium COSM4104700 PHF21B c.781G>A p.A261T Substitution - Missense Small_intestine COSM4035917 KDM2A c.2681A>G p.Q894R Substitution - Missense Stomach COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Skin COSM40895 SETD2 c.2992T>G p.C998G Substitution - Missense Central_nervous_system COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85911 IKZF1 c.161-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85987 ATRX c.6083G>C p.R2028P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM80760 ZCWPW2 c.198A>G p.S66S Substitution - coding silent Ovary COSM71235 JMJD1C c.6212T>A p.V2071E Substitution - Missense Ovary COSM98030 MECOM c.3130G>T p.A1044S Substitution - Missense Upper_aerodigestive_tract COSM88746 CREBBP c.5035_5037delTCC p.S1680delS Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM116351 SMYD4 c.2390C>A p.P797H Substitution - Missense Large_intestine COSM110806 BAP1 c.2047_2056+19del29 p.? Unknown Pleura COSM112087 TDG c.286_287insA p.I98fs*6 Insertion - Frameshift Central_nervous_system COSM132898 TET2 c.5038C>T p.Q1680* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM133024 ARID1A c.1945_1946insT p.M651fs*25 Insertion - Frameshift Pancreas COSM166336 SP140_ENST00000392045 c.1825+1G>T p.? Unknown Breast COSM211685 TET2 c.2000_2001insGACCA p.H667fs*35 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM218731 SMYD5 c.619G>C p.E207Q Substitution - Missense Pancreas COSM211628 TET2 c.4838_4839delAT p.N1613fs*47 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM201010 ING1 c.586C>T p.R196* Substitution - Nonsense Large_intestine COSM254625 CREBBP c.4336C>G p.R1446G Substitution - Missense Urinary_tract COSM251352 ARID1A c.315_334del20 p.N106fs*4 Deletion - Frameshift Liver COSM255467 JHDM1D c.845A>C p.H282P Substitution - Missense Central_nervous_system COSM275030 EZH2 c.2173G>A p.E725K Substitution - Missense Large_intestine COSM293686 SP140_ENST00000392045 c.2008delA p.K672fs*4 Deletion - Frameshift Large_intestine COSM317036 ATRX c.4250G>T p.R1417L Substitution - Missense Soft_tissue COSM343876 JMJD1C c.4774G>A p.D1592N Substitution - Missense Lung COSM340121 DPF1 c.545G>A p.R182H Substitution - Missense Lung COSM338947 KMT2A c.4282A>G p.I1428V Substitution - Missense Lung COSM369536 TDRKH c.1564A>T p.T522S Substitution - Missense Lung COSM476078 BAZ2B c.3738G>T p.W1246C Substitution - Missense Kidney COSM985854 BAHCC1 c.4478C>T p.A1493V Substitution - Missense Endometrium COSM480160 SETD2 c.3371T>G p.M1124R Substitution - Missense Kidney COSM956528 ARID4A c.1293T>C p.A431A Substitution - coding silent Endometrium COSM3724530 SMARCA4 c.2439-2A>T p.? Unknown Ovary COSM939275 KDM5A c.2086C>T p.R696W Substitution - Missense Large_intestine COSM972466 CTCF c.214C>T p.Q72* Substitution - Nonsense Endometrium COSM721478 SMEK2 c.2097T>C p.N699N Substitution - coding silent Lung COSM1602180 EYA3 c.993+6T>C p.? Unknown Liver COSM1040963 MECOM c.2249G>A p.R750Q Substitution - Missense Pancreas COSM1045503 SETD2 c.327T>C p.A109A Substitution - coding silent Endometrium COSM1071745 PRDM1 c.1343C>A p.P448H Substitution - Missense Endometrium COSM1114809 SMARCA1 c.886G>T p.E296* Substitution - Nonsense Endometrium COSM1236322 TAF1 c.378G>T p.Q126H Substitution - Missense Autonomic_ganglia COSM1244196 ACTR5 c.1306T>G p.L436V Substitution - Missense Oesophagus COSM1197594 HDAC2 c.82G>T p.G28C Substitution - Missense Lung COSM1194896 NCOA5 c.556G>C p.E186Q Substitution - Missense Lung COSM1163681 SUV420H2 c.311_312delGT p.S104fs*29 Deletion - Frameshift Pancreas COSM1205381 EP400 c.7856C>T p.A2619V Substitution - Missense Large_intestine COSM1180961 ATXN7 c.2334delC p.T781fs*11 Deletion - Frameshift Large_intestine COSM1205621 ERCC6 c.1987A>G p.K663E Substitution - Missense Large_intestine COSM1184218 ATRX c.6989A>G p.Q2330R Substitution - Missense Large_intestine COSM1226750 SMARCA2 c.4045C>T p.R1349* Substitution - Nonsense Large_intestine COSM1187197 ARID1B c.1996C>T p.P666S Substitution - Missense Lung COSM1190460 EP300 c.4955T>C p.M1652T Substitution - Missense Lung COSM1313745 CHRAC1 c.190G>T p.G64C Substitution - Missense Urinary_tract COSM1328888 NSD1 c.3959G>A p.R1320Q Substitution - Missense Ovary COSM1327391 PRDM15 c.1963C>G p.P655A Substitution - Missense Ovary COSM1334651 ASH1L c.5465delA p.N1822fs*2 Deletion - Frameshift Large_intestine COSM1324723 CHD3 c.510G>T p.R170S Substitution - Missense Ovary COSM1381778 PHF12 c.93_94insC p.K32fs*13 Insertion - Frameshift Large_intestine COSM1388704 SETBP1 c.233A>G p.E78G Substitution - Missense Large_intestine COSM1412439 ADNP c.64delA p.I22fs*14 Deletion - Frameshift Large_intestine COSM1343375 ORC1 c.1187+2T>C p.? Unknown Large_intestine COSM1364340 APOBEC1 c.346G>A p.V116I Substitution - Missense Large_intestine COSM1583107 DNMT3A c.2317C>A p.L773I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1492753 PRDM4 c.524C>T p.A175V Substitution - Missense Kidney COSM1626103 TAF1 c.2796G>T p.W932C Substitution - Missense Liver COSM1719479 MECOM c.2550C>T p.F850F Substitution - coding silent Skin COSM1662338 JMJD1C c.934C>A p.L312I Substitution - Missense Kidney COSM1746240 PHF21A c.79G>C p.D27H Substitution - Missense Urinary_tract COSM1979483 PRDM11 c.607C>A p.R203S Substitution - Missense Large_intestine COSM2006752 KMT2D c.12970_12971insG p.A4324fs*12 Insertion - Frameshift Large_intestine COSM2269469 BAHD1 c.1135T>A p.F379I Substitution - Missense Large_intestine COSM3153142 EP300 c.3663G>A p.Q1221Q Substitution - coding silent Upper_aerodigestive_tract COSM3304125 KMT2C c.7566G>C p.M2522I Substitution - Missense Large_intestine COSM3290857 ACTR5 c.779T>C p.L260S Substitution - Missense Large_intestine COSM3369277 POGZ c.3781A>T p.I1261F Substitution - Missense Thyroid COSM3488861 ZMYM6 c.988C>T p.P330S Substitution - Missense Skin COSM3474701 TDRD10 c.853G>A p.G285R Substitution - Missense Skin COSM3608565 PHF15 c.352C>T p.P118S Substitution - Missense Skin COSM3589871 MECOM c.1586C>T p.S529L Substitution - Missense Skin COSM3594683 SETD2 c.766A>G p.K256E Substitution - Missense Skin COSM3567461 MBD5 c.3666C>T p.I1222I Substitution - coding silent Skin COSM3691897 KDM6B c.437G>A p.R146H Substitution - Missense Large_intestine COSM3688062 EP400 c.4976C>T p.P1659L Substitution - Missense Large_intestine COSM3720451 EED c.904A>G p.R302G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3714655 ACTR8 c.527C>T p.P176L Substitution - Missense Upper_aerodigestive_tract COSM3749090 PWWP2B c.1041C>T p.P347P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3928496 TDRD6 c.30G>A p.P10P Substitution - coding silent Central_nervous_system COSM3941400 BRD9 c.280G>C p.D94H Substitution - Missense Oesophagus COSM3829516 ARID1B c.3103A>G p.T1035A Substitution - Missense Breast COSM3849113 PHF2 c.3258G>A p.L1086L Substitution - coding silent Breast COSM3925442 CHD7 c.6966C>T p.N2322N Substitution - coding silent Skin COSM3907632 KDM4C c.2152T>C p.C718R Substitution - Missense Stomach COSM3916187 DHX30 c.1063C>G p.L355V Substitution - Missense Skin COSM3902424 TDRD7 c.2682C>T p.S894S Substitution - coding silent Stomach COSM3871728 KMT2D c.11836C>T p.P3946S Substitution - Missense Skin COSM4049849 CHD8 c.4378C>T p.R1460* Substitution - Nonsense Stomach COSM4080514 KDM4B c.2214G>A p.E738E Substitution - coding silent Stomach COSM4111160 ATRX c.1033G>A p.A345T Substitution - Missense Stomach COSM4114048 ZBTB38 c.917G>A p.R306H Substitution - Missense Stomach COSM4145728 PHF21A c.975C>A p.S325R Substitution - Missense Upper_aerodigestive_tract COSM4161998 KMT2C c.2726G>A p.R909K Substitution - Missense Skin COSM4443434 DNMT3L c.94G>A p.G32R Substitution - Missense Large_intestine COSM4496809 ARID2 c.4831C>T p.Q1611* Substitution - Nonsense Skin COSM4514214 PYGO2 c.967C>T p.P323S Substitution - Missense Skin COSM4591258 PHF3 c.236G>T p.C79F Substitution - Missense Upper_aerodigestive_tract COSM4591270 KMT2C c.2512G>A p.G838S Substitution - Missense Upper_aerodigestive_tract COSM4522609 CBX2 c.1170G>A p.K390K Substitution - coding silent Skin COSM4455787 KMT2C c.897A>G p.E299E Substitution - coding silent Skin COSM4457526 RNF134 c.824C>G p.T275S Substitution - Missense Skin COSM4482243 KMT2C c.2588C>G p.S863* Substitution - Nonsense Skin COSM4449937 KDM6A c.3879-2A>T p.? Unknown Skin COSM4672007 CHD4 c.2507G>A p.R836H Substitution - Missense Large_intestine COSM4735993 TRIM24 c.1509G>C p.Q503H Substitution - Missense Large_intestine COSM4694050 KAT5 c.817C>T p.H273Y Substitution - Missense Large_intestine COSM4771554 KMT2D c.4421G>A p.S1474N Substitution - Missense Breast COSM4648388 ASXL1 c.3102A>G p.K1034K Substitution - coding silent Large_intestine COSM4747147 ARID2 c.3256delC p.P1087fs*69 Deletion - Frameshift Stomach COSM4886177 INO80B c.320G>A p.R107H Substitution - Missense Upper_aerodigestive_tract COSM4917352 SETD1A c.1586A>G p.E529G Substitution - Missense Liver COSM4938830 KAT6B c.2243T>C p.L748P Substitution - Missense Liver COSM4819014 ADNP c.2359G>T p.E787* Substitution - Nonsense Cervix COSM4954970 PRDM8 c.824G>A p.S275N Substitution - Missense Liver COSM4958732 SRCAP c.6708G>A p.K2236K Substitution - coding silent Liver COSM4993321 PSIP1 c.394-1G>A p.? Unknown Skin COSM4977348 FTO c.599A>G p.N200S Substitution - Missense Oesophagus COSM5028712 ADNP c.3209A>C p.D1070A Substitution - Missense Breast COSM5051075 KDM2A c.1303A>G p.N435D Substitution - Missense Stomach COSM5051295 PRDM4 c.1250G>A p.R417H Substitution - Missense Stomach COSM5205935 CHD1 c.2437_2438insA p.M813fs*39 Insertion - Frameshift Breast COSM5416182 GTF3C4 c.687G>T p.P229P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5384609 GTF3C1 c.5739C>T p.P1913P Substitution - coding silent Skin COSM5495587 SETD2 c.3506+1delG p.? Unknown Biliary_tract COSM5493066 EP400 c.6606C>T p.V2202V Substitution - coding silent Biliary_tract COSM5487572 TIF1 c.2627G>T p.R876L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5428677 PHIP c.709A>T p.N237Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5430930 L3MBTL4 c.138G>A p.A46A Substitution - coding silent Oesophagus COSM5647885 EP300 c.202C>G p.L68V Substitution - Missense Oesophagus COSM5623173 DOT1L c.1499C>A p.A500E Substitution - Missense Oesophagus COSM5623541 STK31 c.2279A>G p.Y760C Substitution - Missense Oesophagus COSM5631649 POGZ c.1875G>A p.L625L Substitution - coding silent Oesophagus COSM5702525 BAP1 c.223G>A p.D75N Substitution - Missense Eye COSM5650474 CHD8 c.5562C>T p.C1854C Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5702639 ATRX c.4990G>T p.E1664* Substitution - Nonsense Autonomic_ganglia COSM5728411 SRCAP c.390C>T p.P130P Substitution - coding silent Skin COSM5618736 EP400 c.3117C>G p.V1039V Substitution - coding silent Breast COSM5600203 PHIP c.5235G>A p.K1745K Substitution - coding silent Skin COSM5611054 TRRAP c.585G>A p.T195T Substitution - coding silent Skin COSM5694528 TDRD5 c.1434G>T p.E478D Substitution - Missense Soft_tissue COSM5693417 SMEK1 c.1351A>C p.T451P Substitution - Missense Soft_tissue COSM5708602 TBL1XR1 c.427+1G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5708969 TET2 c.4043A>C p.Q1348P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5568427 MGA c.1452T>C p.S484S Substitution - coding silent Prostate COSM5762830 ASXL1 c.2124_2125insGC p.G710fs*16 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5564705 PHIP c.5142G>A p.R1714R Substitution - coding silent Prostate COSM5800269 ARID1A c.3060G>T p.R1020S Substitution - Missense Breast COSM5889119 SUV39H2 c.494C>T p.P165L Substitution - Missense Skin COSM5887704 MBD5 c.771T>A p.F257L Substitution - Missense Upper_aerodigestive_tract COSM5895371 EHMT2 c.2071delG p.A691fs*21 Deletion - Frameshift Skin COSM5957989 DNMT3A c.2063G>T p.R688L Substitution - Missense Thyroid COSM5970702 ARID2 c.5232G>C p.L1744L Substitution - coding silent Upper_aerodigestive_tract COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM1583047 TET2 c.? p.L225fs*23 Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4167250 TET2 c.? p.S890A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3428529 GABRG1 c.191T>C p.I64T Substitution - Missense Large_intestine COSM5453340 SUV420H2 c.180C>A p.D60E Substitution - Missense Large_intestine COSM4506930 LBR c.733C>T p.P245S Substitution - Missense Skin COSM3883760 TRRAP c.8296G>A p.G2766R Substitution - Missense Stomach COSM477717 KDM3A c.3307G>A p.A1103T Substitution - Missense Kidney COSM1184402 BAHCC1 c.955C>T p.R319C Substitution - Missense Large_intestine COSM1284575 DNMT1 c.1372C>A p.L458I Substitution - Missense Autonomic_ganglia COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM5074166 SIRT5 c.857+4C>A p.? Unknown Large_intestine COSM51466 ARID1A c.1398_1398delC p.Q467fs*152 Deletion - Frameshift Ovary COSM3388423 ASXL3 c.1122C>T p.S374S Substitution - coding silent Pancreas COSM958759 SMEK1 c.610C>T p.R204* Substitution - Nonsense Endometrium COSM2034961 GLYATL1 c.375C>T p.I125I Substitution - coding silent Skin COSM4717450 PRDM10 c.296C>A p.A99D Substitution - Missense Large_intestine COSM2965302 KDM6A c.394delT p.L133fs*47 Deletion - Frameshift Large_intestine COSM5624665 HDAC9 c.990G>T p.L330F Substitution - Missense Oesophagus COSM3304394 KMT2C c.2705C>T p.S902L Substitution - Missense Large_intestine COSM25310 NIPBL c.1045A>T p.S349C Substitution - Missense Lung COSM5567692 DIDO1 c.6462C>T p.S2154S Substitution - coding silent Prostate COSM4722076 RNF2 c.472C>T p.R158* Substitution - Nonsense Large_intestine COSM1465251 ZBTB33 c.956C>T p.A319V Substitution - Missense Large_intestine COSM5501525 KIAA2026_ENST00000399933 c.1216G>C p.V406L Substitution - Missense Biliary_tract COSM278225 ZMYM6 c.3439T>G p.F1147V Substitution - Missense Large_intestine COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM1194484 MECP2 c.121G>A p.G41S Substitution - Missense Lung COSM249685 NCOR1 c.448G>A p.G150R Substitution - Missense Upper_aerodigestive_tract COSM5720735 PRDM1 c.1940G>T p.R647L Substitution - Missense Skin COSM1266521 SP140_ENST00000392045 c.1469C>A p.S490Y Substitution - Missense Oesophagus COSM254571 BRPF1 c.3049G>A p.A1017T Substitution - Missense Urinary_tract COSM96487 TET2 c.3808A>C p.T1270P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4574171 PRDM10 c.423C>T p.D141D Substitution - coding silent Large_intestine COSM4689741 HDGFL1 c.318_323delGCCGGA p.P109_E110delPE Deletion - In frame Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM749485 ATAD2 c.931A>C p.K311Q Substitution - Missense Lung COSM2911783 DNMT3A c.1555-2A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM1756892 ARID4A c.1709T>G p.M570R Substitution - Missense Urinary_tract COSM5468442 MUM1 c.1772G>A p.R591Q Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5019018 PRDM10 c.3428_3430delCCA p.T1143delT Deletion - In frame Soft_tissue COSM1432778 LMNB1 c.1065A>G p.Q355Q Substitution - coding silent Large_intestine COSM285644 TDRD7 c.3122G>A p.R1041Q Substitution - Missense Stomach COSM4638075 HCFC1 c.5751C>T p.N1917N Substitution - coding silent Large_intestine COSM5885870 MYST3 c.644delC p.T215fs*28 Deletion - Frameshift Urinary_tract COSM3374963 CHD7 c.2222A>G p.E741G Substitution - Missense Thyroid COSM3390018 DNMT3L c.605-4C>A p.? Unknown Pancreas COSM4430782 KMT2C c.6613C>T p.H2205Y Substitution - Missense Oesophagus COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5509634 INO80B c.990delG p.E334fs*>10 Deletion - Frameshift Biliary_tract COSM423029 BAP1 c.21_32del12 p.E7_S10delELES Deletion - In frame Kidney COSM84157 KMT2D c.2343G>A p.P781P Substitution - coding silent Soft_tissue COSM1051854 PRMT10 c.1076G>A p.R359Q Substitution - Missense Endometrium COSM88809 TET2 c.? p.L426fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3396185 BRDT c.1112C>T p.T371M Substitution - Missense Prostate COSM1155721 ASXL1 c.3779G>C p.G1260A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5501304 ASXL1 c.1932G>C p.G644G Substitution - coding silent Biliary_tract COSM4405787 BRD4 c.1785C>T p.P595P Substitution - coding silent Skin COSM213023 BAZ1A c.2489C>T p.S830F Substitution - Missense Breast COSM5788767 MLL5 c.1774G>A p.E592K Substitution - Missense Breast COSM4071713 SMCHD1 c.3349C>T p.R1117* Substitution - Nonsense Stomach COSM907723 ARID1A c.4003C>T p.R1335* Substitution - Nonsense Breast COSM1378655 SETD6 c.831A>G p.E277E Substitution - coding silent Large_intestine COSM455827 TAF1L c.2763C>A p.G921G Substitution - coding silent Breast COSM435353 BRD7 c.1381G>A p.D461N Substitution - Missense Breast COSM5490570 BAP1 c.175C>T p.R59W Substitution - Missense Biliary_tract COSM1488417 KMT2C c.289G>C p.E97Q Substitution - Missense Breast COSM5810337 ARID1B c.5578G>T p.D1860Y Substitution - Missense Liver COSM4591233 NCOR1 c.534G>C p.K178N Substitution - Missense Upper_aerodigestive_tract COSM4956909 PHF8 c.2715G>T p.Q905H Substitution - Missense Liver COSM326512 SMARCA4 c.830C>A p.P277H Substitution - Missense Lung COSM4807117 ELP3 c.971G>A p.R324H Substitution - Missense Pancreas COSM4513626 ARID4A c.945C>T p.F315F Substitution - coding silent Skin COSM387530 PRDM9 c.730C>T p.P244S Substitution - Missense Lung COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3942414 TRRAP c.1296C>T p.S432S Substitution - coding silent Oesophagus COSM162550 MPHOSPH8 c.1141G>A p.V381I Substitution - Missense Breast COSM1684836 SETBP1 c.? p.D908N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4976464 CHD6 c.2799G>A p.Q933Q Substitution - coding silent Oesophagus COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1743475 HDAC6 c.627C>T p.I209I Substitution - coding silent Biliary_tract COSM1109473 KIAA2026_ENST00000399933 c.2218A>T p.K740* Substitution - Nonsense Endometrium COSM5607142 TRIM66 c.2578C>T p.P860S Substitution - Missense Skin COSM1411832 CHD6 c.5899C>A p.L1967M Substitution - Missense Large_intestine COSM3375458 EPC1 c.1569A>G p.S523S Substitution - coding silent Pancreas COSM4780736 KDM4C c.992A>G p.Y331C Substitution - Missense Liver COSM2080180 ZMYM4 c.81G>T p.E27D Substitution - Missense Large_intestine COSM3508966 SETD1A c.465C>T p.L155L Substitution - coding silent Skin COSM3995025 TDRD6 c.4682G>C p.R1561T Substitution - Missense Kidney COSM990743 SMARCA4 c.2022G>A p.P674P Substitution - coding silent Breast COSM1191110 PHF20 c.74_75insT p.L25fs*13 Insertion - Frameshift Lung COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1159197 CHD8 c.4044A>G p.K1348K Substitution - coding silent Pancreas COSM4835550 TRRAP c.379G>C p.E127Q Substitution - Missense Cervix COSM360158 ATAT1 c.80G>C p.R27P Substitution - Missense Lung COSM51985 BAP1 c.1714_1718delCCCCT p.P572fs*69 Deletion - Frameshift Eye COSM3092531 PHF8 c.1389C>T p.A463A Substitution - coding silent Large_intestine COSM211770 ARID1A c.6446_6447insA p.S2149fs*9 Insertion - Frameshift Endometrium COSM1079896 TDRD6 c.2748A>C p.K916N Substitution - Missense Endometrium COSM5053079 SMYD2 c.256C>T p.H86Y Substitution - Missense Stomach COSM1202763 CXXC1 c.1232G>A p.R411H Substitution - Missense Large_intestine COSM729194 MECOM c.163G>A p.E55K Substitution - Missense Lung COSM81746 SMYD1 c.186C>G p.L62L Substitution - coding silent Ovary COSM3563246 HDAC8 c.995C>A p.P332Q Substitution - Missense Skin COSM435527 CTCF c.102A>G p.E34E Substitution - coding silent Breast COSM4606482 KMT2C c.2459C>T p.T820I Substitution - Missense Liver COSM3947303 NSD1 c.2861A>T p.K954M Substitution - Missense Lung COSM5446441 TCF20 c.1868_1869insG p.D624fs*2 Insertion - Frameshift Thyroid COSM350742 ZBTB38 c.1519G>A p.E507K Substitution - Missense Lung COSM4022241 POGZ c.2330G>A p.R777H Substitution - Missense Stomach COSM1714418 EP300 c.1099_1100CC>TT p.P367F Substitution - Missense Skin COSM1624107 CHD7 c.6630G>A p.E2210E Substitution - coding silent Liver COSM3666011 KMT2A c.11441T>C p.L3814P Substitution - Missense Liver COSM110419 PRDM8 c.245C>T p.S82F Substitution - Missense Skin COSM4136278 BAHD1 c.722C>T p.A241V Substitution - Missense Pancreas COSM4690797 HNF1A c.1125delC p.L377fs*7 Deletion - Frameshift Large_intestine COSM4410607 SETD2 c.3457_3458insGAAG p.V1153fs*11 Insertion - Frameshift Kidney COSM350586 SP140_ENST00000392045 c.1129G>T p.E377* Substitution - Nonsense Lung COSM4774857 KMT2D c.7381C>T p.Q2461* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1360186 EP400 c.8178A>G p.Q2726Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1752922 HDAC11 c.608T>A p.V203D Substitution - Missense Urinary_tract COSM4166143 TET2 c.2256_2259delTAAA p.N752fs*60 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM77942 KDM3B c.4249G>C p.V1417L Substitution - Missense Ovary COSM5724035 BTAF1 c.1257C>T p.V419V Substitution - coding silent Skin COSM4003461 NSD1 c.6829T>C p.L2277L Substitution - coding silent Soft_tissue COSM4522261 GABRG1 c.1153G>A p.G385R Substitution - Missense Skin COSM235680 KMT2C c.10362C>A p.Y3454* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4851743 MBTD1 c.245G>C p.R82T Substitution - Missense Cervix COSM331547 KMT2C c.1101T>C p.H367H Substitution - coding silent Stomach COSM23398 MEN1 c.249_252delGTCT p.I85fs*33 Deletion - Frameshift Pancreas COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5996461 KDM1B c.1091C>A p.S364Y Substitution - Missense Prostate COSM3392695 PHF17 c.1321C>T p.R441W Substitution - Missense Pancreas COSM1387346 CHD3 c.197G>A p.R66Q Substitution - Missense Large_intestine COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1093705 TRRAP c.9360C>T p.H3120H Substitution - coding silent Endometrium COSM3977929 RERE c.4407C>T p.P1469P Substitution - coding silent Lung COSM680178 ARID1A c.1583A>T p.Q528L Substitution - Missense Lung COSM5756022 HDAC4 c.743C>T p.P248L Substitution - Missense Large_intestine COSM323143 RTF1 c.649G>T p.E217* Substitution - Nonsense Lung COSM5459151 KDM3B c.2832-6T>G p.? Unknown Large_intestine COSM273490 ZCWPW2 c.801A>C p.E267D Substitution - Missense Oesophagus COSM86979 IKZF1 c.41-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4036876 RSF1 c.3223A>G p.K1075E Substitution - Missense Stomach COSM3064142 BRD1 c.2610G>A p.A870A Substitution - coding silent Large_intestine COSM454727 CHD7 c.5440G>A p.A1814T Substitution - Missense Breast COSM388522 HDAC10 c.1231C>G p.R411G Substitution - Missense Lung COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1377475 SRCAP c.5626delC p.P1878fs*89 Deletion - Frameshift Large_intestine COSM3734243 KDM3B c.4216C>T p.R1406W Substitution - Missense Pancreas COSM252474 DIDO1 c.1358C>T p.P453L Substitution - Missense Ovary COSM3482143 RBBP5 c.941C>T p.S314F Substitution - Missense Skin COSM4013114 TRDMT1 c.1064C>T p.P355L Substitution - Missense Stomach COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4608666 EZH1 c.390C>A p.C130* Substitution - Nonsense Adrenal_gland COSM5018341 KIAA2026_ENST00000399933 c.5517delC p.S1840fs*20 Deletion - Frameshift Soft_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96921 TP53BP1 c.4957_4960ATCA>TCCT p.I1653_T1654>SS Complex - compound substitution Lung COSM1377475 SRCAP c.5626delC p.P1878fs*89 Deletion - Frameshift Stomach COSM4880000 TP53BP1 c.3752C>T p.T1251I Substitution - Missense Prostate COSM5751283 PHF6 c.820_821insT p.R274fs*20 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1046997 BAP1 c.129A>G p.V43V Substitution - coding silent Endometrium COSM4453131 BRPF3 c.2572A>T p.T858S Substitution - Missense Skin COSM1222800 PWWP2B c.1294A>T p.R432* Substitution - Nonsense Large_intestine COSM4703494 MTA2 c.301delC p.H101fs*8 Deletion - Frameshift Large_intestine COSM4581339 KDM4B c.1977G>A p.Q659Q Substitution - coding silent Bone COSM3831104 PHIP c.1383C>G p.V461V Substitution - coding silent Breast COSM6001208 SETD3 c.116C>T p.P39L Substitution - Missense Prostate COSM1132271 ZMYM3 c.3887C>G p.P1296R Substitution - Missense Prostate COSM332696 RAI1 c.1663A>C p.T555P Substitution - Missense Lung COSM5676351 MECP2 c.814C>G p.P272A Substitution - Missense Soft_tissue COSM1388374 AP001011.3_ENST00000320876 c.4093C>A p.P1365T Substitution - Missense Large_intestine COSM422743 BAP1 c.2134C>T p.Q712* Substitution - Nonsense Oesophagus COSM41742 TET2 c.5152G>T p.V1718L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3719379 TET2 c.3149C>A p.S1050* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4623704 BAHCC1 c.3582C>A p.P1194P Substitution - coding silent Large_intestine COSM4742921 ZMYM4 c.1543_1545delTCA p.S516delS Deletion - In frame Large_intestine COSM3666644 PHF10 c.353_354insA p.A119fs*5 Insertion - Frameshift Liver COSM5550661 ARID1B c.2361G>A p.A787A Substitution - coding silent Prostate COSM1416504 L3MBTL2 c.1930G>A p.G644R Substitution - Missense Large_intestine COSM4963552 PHF12 c.2684G>T p.R895L Substitution - Missense Pancreas COSM1727167 PHF10 c.784G>C p.A262P Substitution - Missense Liver COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Upper_aerodigestive_tract COSM3894919 MBD5 c.2668C>T p.P890S Substitution - Missense Skin COSM190251 BRD1 c.2654C>T p.T885M Substitution - Missense Prostate COSM1205094 EHMT1 c.3433G>T p.D1145Y Substitution - Missense Large_intestine COSM5075569 SETD2 c.5489G>A p.G1830E Substitution - Missense Kidney COSM1216845 NCOA1 c.3045A>C p.K1015N Substitution - Missense Large_intestine COSM5377267 TRIM33 c.972G>A p.E324E Substitution - coding silent Skin COSM1465250 ZBTB33 c.939G>A p.Q313Q Substitution - coding silent Large_intestine COSM3670034 KIAA2026_ENST00000399933 c.3746G>T p.G1249V Substitution - Missense Liver COSM283392 NSD1 c.3639A>G p.I1213M Substitution - Missense Large_intestine COSM5582583 SND1 c.2254A>G p.K752E Substitution - Missense Skin COSM452728 KMT2C c.2379G>A p.S793S Substitution - coding silent Central_nervous_system COSM3376312 BAZ2A_ENST00000379441 c.5558C>T p.T1853I Substitution - Missense Pancreas COSM110795 TET2 c.? p.N789fs*13 Frameshift Haematopoietic_and_lymphoid_tissue COSM4591023 KMT2C c.871C>T p.L291F Substitution - Missense Upper_aerodigestive_tract COSM3883770 TRRAP c.9724A>G p.T3242A Substitution - Missense Stomach COSM1476831 CHD4 c.3484C>T p.R1162W Substitution - Missense Breast COSM5788443 ASH1L c.2374C>G p.L792V Substitution - Missense Breast COSM100068 TET2 c.3955-2delA p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5681321 CLOCK c.796A>T p.M266L Substitution - Missense Soft_tissue COSM3386089 RBBP4 c.595G>A p.D199N Substitution - Missense Pancreas COSM4621699 PRDM13 c.402G>A p.E134E Substitution - coding silent Skin COSM4204459 SETD8 c.465A>G p.Q155Q Substitution - coding silent Breast COSM5498208 SRCAP c.9601A>G p.N3201D Substitution - Missense Biliary_tract COSM1220344 PHF15 c.160C>T p.R54W Substitution - Missense Large_intestine COSM1049741 TET2 c.304_305delTC p.S104fs*15 Deletion - Frameshift Endometrium COSM5565489 DPF2 c.898C>T p.R300C Substitution - Missense Prostate COSM3707918 DIDO1 c.3204A>G p.K1068K Substitution - coding silent Liver COSM1027428 NCOA5 c.193C>T p.H65Y Substitution - Missense Endometrium COSM1027539 NCOA3 c.1373A>C p.N458T Substitution - Missense Endometrium COSM5453154 HDAC7 c.680C>T p.A227V Substitution - Missense Large_intestine COSM5587964 HDAC4 c.1989G>A p.L663L Substitution - coding silent Skin COSM1023492 KDM3A c.727G>T p.V243F Substitution - Missense Endometrium COSM5944496 TET2 c.1892_1893insA p.Q632fs*6 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM748335 TRRAP c.6094C>A p.L2032M Substitution - Missense Lung COSM278999 ASH1L c.3917G>A p.R1306Q Substitution - Missense Large_intestine COSM232909 NSD1 c.6794C>T p.S2265F Substitution - Missense Skin COSM13394 MSH6 c.3261_3262insC p.F1088fs*5 Insertion - Frameshift Large_intestine COSM2777469 KIAA2026_ENST00000399933 c.5695G>A p.V1899I Substitution - Missense Large_intestine COSM2145543 ERCC6 c.99A>T p.Q33H Substitution - Missense Large_intestine COSM203096 ATAD2 c.354delA p.E119fs*8 Deletion - Frameshift Large_intestine COSM88208 IDH1 c.299G>A p.R100Q Substitution - Missense Central_nervous_system COSM4741927 YY1 c.13G>A p.D5N Substitution - Missense Large_intestine COSM955451 BAZ1A c.4609G>A p.V1537I Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM223071 TCF19 c.736C>T p.P246S Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4576244 SETDB1 c.3510A>G p.K1170K Substitution - coding silent Bone COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM708177 AP001011.3_ENST00000320876 c.3898A>G p.I1300V Substitution - Missense Lung COSM2270378 RTF1 c.514G>T p.A172S Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1240707 ZGPAT c.790G>A p.G264S Substitution - Missense Large_intestine COSM941758 BAZ2A c.3122A>G p.N1041S Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5015713 SMARCB1 c.1090A>T p.K364* Substitution - Nonsense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1449480 KMT2C c.1041C>T p.C347C Substitution - coding silent Prostate COSM1307064 KDM3A c.70G>A p.D24N Substitution - Missense Cervix COSM96534 IDH1 c.401C>A p.A134D Substitution - Missense Thyroid COSM5751542 TET2 c.722_723insT p.V242fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1353900 PHF21A c.1817delC p.P606fs*>29 Deletion - Frameshift Large_intestine COSM4066514 KAT2A c.1327G>A p.E443K Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM278971 ARID2 c.940C>T p.R314C Substitution - Missense Large_intestine COSM3438383 ERCC6 c.2123C>T p.S708F Substitution - Missense Skin COSM3381498 ARID1B c.4674G>A p.P1558P Substitution - coding silent Pancreas COSM1716415 CTCF c.610delA p.T204fs*18 Deletion - Frameshift Endometrium COSM1158133 CHD7 c.3208G>A p.V1070M Substitution - Missense Pancreas COSM52849 PBRM1 c.2965+1delGTAA p.? Unknown Kidney COSM139182 NCOA6 c.6116C>T p.S2039F Substitution - Missense Skin COSM5463023 BRWD1 c.4409C>A p.P1470H Substitution - Missense Large_intestine COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM1716616 ATRX c.758T>A p.L253* Substitution - Nonsense Central_nervous_system COSM4777670 CHD2 c.4173_4174insA p.Q1392fs*17 Insertion - Frameshift Prostate COSM5591349 INOC1 c.4174C>T p.P1392S Substitution - Missense Skin COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM3443981 KMT2A c.6674C>T p.S2225F Substitution - Missense Skin COSM149916 BRD8 c.3120+8A>G p.? Unknown Stomach COSM159177 ARID2 c.3859G>A p.E1287K Substitution - Missense Breast COSM3529601 BRD4 c.976C>T p.R326W Substitution - Missense Skin COSM3598858 TET2 c.2044C>T p.H682Y Substitution - Missense Skin COSM1413022 DIDO1 c.2227C>T p.R743C Substitution - Missense Skin COSM3944550 CDY1B c.1523C>T p.A508V Substitution - Missense Lung COSM1106291 GTF3C4 c.490T>A p.F164I Substitution - Missense Endometrium COSM1424478 PHF7 c.397delT p.F134fs*85 Deletion - Frameshift Stomach COSM96443 CREBBP c.4499A>C p.Q1500P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5437502 PRDM9 c.248T>C p.L83P Substitution - Missense Oesophagus COSM4749109 CDYL c.550C>T p.R184W Substitution - Missense Stomach COSM1167991 ARID2 c.890C>T p.S297F Substitution - Missense Skin COSM4728462 SMEK1 c.1133G>A p.R378Q Substitution - Missense Breast COSM12929 TAF1L c.2154G>A p.K718K Substitution - coding silent Lung COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM26333 MECOM c.3156+5A>G p.? Unknown Lung COSM37030 EZH2 c.1936T>C p.Y646H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM117269 ZBTB33 c.620C>A p.T207N Substitution - Missense Ovary COSM97040 ASXL1 c.2485C>T p.Q829* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM87091 TET2 c.1847_1848insC p.R617fs*21 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM132996 ARID1A c.1323_1323delC p.M442fs*177 Deletion - Frameshift Breast COSM221148 KMT2D c.15639_15640CG>A p.A5213fs Complex Haematopoietic_and_lymphoid_tissue COSM158621 NCOA7 c.1750A>G p.K584E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM241017 ORC1 c.2128A>G p.R710G Substitution - Missense Prostate COSM266905 MBD5 c.1456A>G p.I486V Substitution - Missense Large_intestine COSM269083 EHMT1 c.3095T>C p.V1032A Substitution - Missense Large_intestine COSM258629 TRIM33 c.1002_1004delGAA p.K334delK Deletion - In frame Large_intestine COSM277587 TAF1L c.2188G>T p.D730Y Substitution - Missense Large_intestine COSM271831 BRD7 c.399G>C p.Q133H Substitution - Missense Large_intestine COSM309432 BAG6 c.344delC p.P115fs*53 Deletion - Frameshift Large_intestine COSM352355 PRMT3 c.118G>A p.D40N Substitution - Missense Thyroid COSM347423 GTF3C1 c.1621G>A p.E541K Substitution - Missense Lung COSM348857 TDRD3 c.1723G>A p.A575T Substitution - Missense Lung COSM383169 CDYL2 c.769G>T p.E257* Substitution - Nonsense Lung COSM422562 KDM6A c.3060C>T p.I1020I Substitution - coding silent Urinary_tract COSM425270 SMYD2 c.870C>T p.A290A Substitution - coding silent Skin COSM422748 PBRM1 c.207T>A p.C69* Substitution - Nonsense Kidney COSM577394 CHD6 c.6930G>T p.A2310A Substitution - coding silent Oesophagus COSM613856 ATRX c.3892G>T p.E1298* Substitution - Nonsense Endometrium COSM486571 CHD7 c.6971G>A p.C2324Y Substitution - Missense Kidney COSM605677 MYST3 c.1305G>A p.E435E Substitution - coding silent Large_intestine COSM918653 ERCC6 c.3662G>A p.R1221Q Substitution - Missense Endometrium COSM680975 ZMYM6 c.1955-1G>T p.? Unknown Lung COSM1017598 SP140_ENST00000392045 c.770C>T p.A257V Substitution - Missense Large_intestine COSM1014823 TET2 c.2063A>G p.D688G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1018700 ATAD2B_ENST00000238789 c.272G>A p.R91H Substitution - Missense Large_intestine COSM919507 JMJD1C c.1035C>T p.S345S Substitution - coding silent Endometrium COSM754399 KIAA2026_ENST00000399933 c.600G>T p.L200F Substitution - Missense Lung COSM757216 PHF16 c.2452C>A p.H818N Substitution - Missense Lung COSM895005 PRDM2 c.1229G>A p.R410Q Substitution - Missense Endometrium COSM1602216 HDAC1 c.183T>A p.A61A Substitution - coding silent Liver COSM1045501 SETD2 c.406G>A p.E136K Substitution - Missense Endometrium COSM969487 CCDC101 c.623G>A p.R208H Substitution - Missense Endometrium COSM1074192 SHPRH c.3514C>T p.R1172* Substitution - Nonsense Bone COSM1074205 SHPRH c.1717C>T p.R573C Substitution - Missense Large_intestine COSM1128574 KMT2D c.2680G>T p.E894* Substitution - Nonsense Prostate COSM1118566 RBBP7 c.634G>T p.E212* Substitution - Nonsense Endometrium COSM1091565 BAZ1B c.1718G>T p.R573I Substitution - Missense Large_intestine COSM1168025 TET2 c.2200C>T p.Q734* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1209392 HDAC7 c.2435G>T p.G812V Substitution - Missense Large_intestine COSM1162748 BRD9 c.928A>T p.M310L Substitution - Missense Pancreas COSM1235375 ARID1A c.3134_3134delG p.G1045fs*14 Deletion - Frameshift Breast COSM1266341 SND1 c.1973G>C p.W658S Substitution - Missense Oesophagus COSM1180098 KMT2C c.1005T>A p.P335P Substitution - coding silent Soft_tissue COSM1308669 ZBTB38 c.1208G>C p.G403A Substitution - Missense Urinary_tract COSM1387300 BAHCC1 c.7308C>T p.S2436S Substitution - coding silent Large_intestine COSM1389496 L3MBTL4 c.1491G>A p.A497A Substitution - coding silent Large_intestine COSM1416615 TCF20 c.5683G>A p.A1895T Substitution - Missense Large_intestine COSM1416622 TCF20 c.2197A>G p.K733E Substitution - Missense Large_intestine COSM1433375 KDM3B c.2345_2346insG p.D782fs*11 Insertion - Frameshift Large_intestine COSM1468632 PHF8 c.1666G>T p.D556Y Substitution - Missense Large_intestine COSM1451979 BAZ1B c.1803G>A p.G601G Substitution - coding silent Large_intestine COSM1355794 MEN1 c.1546delC p.R516fs*43 Deletion - Frameshift Large_intestine COSM1565740 NCOA3 c.3765G>A p.Q1255Q Substitution - coding silent Large_intestine COSM1474214 RERE c.2135C>A p.S712Y Substitution - Missense Breast COSM1610432 MYST2 c.710C>T p.S237F Substitution - Missense Liver COSM1586695 CHD4 c.3672G>T p.E1224D Substitution - Missense Endometrium COSM1586697 CHD4 c.4013G>T p.R1338I Substitution - Missense Stomach COSM1626105 TAF1 c.3224+8G>A p.? Unknown Liver COSM1622594 KMT2C c.11722C>A p.P3908T Substitution - Missense Liver COSM1634944 PHIP c.1816G>C p.V606L Substitution - Missense Liver COSM1686955 RERE c.541C>T p.L181F Substitution - Missense Skin COSM1686157 RAG2 c.898C>T p.R300C Substitution - Missense Skin COSM1716627 ATRX c.1074delA p.K358fs*2 Deletion - Frameshift Large_intestine COSM1711328 MBD1 c.880C>T p.P294S Substitution - Missense Skin COSM1709555 SMYD4 c.923C>T p.P308L Substitution - Missense Skin COSM1750993 KDM4B c.2527A>G p.I843V Substitution - Missense Urinary_tract COSM1965085 KAT6B c.1215T>C p.T405T Substitution - coding silent Upper_aerodigestive_tract COSM2797644 BPTF c.905A>G p.N302S Substitution - Missense Lung COSM2810261 ASXL3 c.188G>T p.R63M Substitution - Missense Large_intestine COSM2855522 PHF10 c.414T>C p.F138F Substitution - coding silent Large_intestine COSM3022256 ARID1B c.1760delC p.G589fs*8 Deletion - Frameshift Large_intestine COSM3209040 HDAC3 c.837C>T p.C279C Substitution - coding silent Large_intestine COSM3376713 VPS72 c.948C>A p.F316L Substitution - Missense Pancreas COSM3401368 ARID4A c.161A>G p.D54G Substitution - Missense Central_nervous_system COSM3488859 ZMYM6 c.1107C>T p.P369P Substitution - coding silent Skin COSM3417476 RNF17 c.457G>T p.E153* Substitution - Nonsense Large_intestine COSM3418048 TDRKH c.975C>T p.I325I Substitution - coding silent Large_intestine COSM3450652 PHRF1 c.3460C>T p.P1154S Substitution - Missense Skin COSM3611758 HDAC3 c.109C>A p.L37M Substitution - Missense Skin COSM3633000 SND1 c.2523C>T p.T841T Substitution - coding silent Skin COSM3589911 MECOM c.219G>A p.T73T Substitution - coding silent Skin COSM3602821 WHSC1 c.1127C>T p.S376F Substitution - Missense Skin COSM3526243 CXXC1 c.307C>T p.R103W Substitution - Missense Skin COSM3698818 ATAD2 c.463C>T p.R155C Substitution - Missense Large_intestine COSM3665844 SFMBT2 c.1790A>G p.E597G Substitution - Missense Liver COSM3705428 RBBP5 c.914C>G p.P305R Substitution - Missense Liver COSM3750308 PRDM2 c.1008G>A p.E336E Substitution - coding silent Large_intestine COSM3762397 TRIM24 c.2589A>G p.G863G Substitution - coding silent Soft_tissue COSM3762469 EZH2 c.553G>C p.D185H Substitution - Missense Large_intestine COSM3799600 NCOA5 c.991G>A p.E331K Substitution - Missense Urinary_tract COSM3818062 BRD7 c.682G>C p.G228R Substitution - Missense Breast COSM3854572 PRDM9 c.1577A>G p.Y526C Substitution - Missense Stomach COSM3829091 EYA4 c.1025G>C p.R342T Substitution - Missense Breast COSM3841023 CHD6 c.1032C>T p.I344I Substitution - coding silent Breast COSM3923413 STK31 c.2566C>T p.H856Y Substitution - Missense Skin COSM3926394 BRD3 c.719A>G p.K240R Substitution - Missense Skin COSM4041992 ARID2 c.3814C>T p.R1272* Substitution - Nonsense Stomach COSM4001260 BAZ2B c.697-9G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3989577 MBD1 c.999G>A p.R333R Substitution - coding silent Kidney COSM4108456 SCML2 c.1012C>T p.R338C Substitution - Missense Stomach COSM4123656 ING2 c.245T>C p.L82P Substitution - Missense Stomach COSM4060273 SETD1A c.1174C>A p.P392T Substitution - Missense Stomach COSM4068919 BPTF c.2820T>C p.N940N Substitution - coding silent Stomach COSM4162020 KMT2C c.2189C>A p.S730Y Substitution - Missense Upper_aerodigestive_tract COSM4161255 TDRD6 c.599T>G p.V200G Substitution - Missense Upper_aerodigestive_tract COSM4186192 PBRM1 c.2884G>T p.D962Y Substitution - Missense Kidney COSM4385674 KDM2B c.1387_1388insC p.G465fs*38 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4383863 TET2 c.2646C>A p.C882* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4384050 NSD1 c.1079C>T p.P360L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4413449 JMJD1C c.5721A>G p.I1907M Substitution - Missense Genital_tract COSM4605415 CREBBP c.4577C>T p.A1526V Substitution - Missense Upper_aerodigestive_tract COSM4419405 TRDMT1 c.168G>C p.T56T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4442770 RAI1 c.5039T>C p.L1680P Substitution - Missense Large_intestine COSM4504149 SMEK2 c.657C>T p.I219I Substitution - coding silent Skin COSM4590278 KDM2A c.310A>G p.S104G Substitution - Missense Soft_tissue COSM4591270 KMT2C c.2512G>A p.G838S Substitution - Missense Upper_aerodigestive_tract COSM4451503 PRDM9 c.1251A>T p.P417P Substitution - coding silent Skin COSM4421668 KDM4B c.431A>G p.D144G Substitution - Missense Pleura COSM4717440 PRDM10 c.3445A>G p.S1149G Substitution - Missense Large_intestine COSM4746831 ARID1A c.5589_5590delAG p.E1864fs*36 Deletion - Frameshift Stomach COSM4747329 ARID4A c.3295delA p.N1100fs*18 Deletion - Frameshift Stomach COSM4754334 TDRD6 c.3677T>A p.L1226H Substitution - Missense Stomach COSM4805933 HDAC2 c.754A>T p.M252L Substitution - Missense Liver COSM4801375 PHF2 c.503A>C p.K168T Substitution - Missense Liver COSM4929037 PSIP1 c.149+1G>T p.? Unknown Liver COSM4923283 TRIM28 c.545A>G p.Q182R Substitution - Missense Liver COSM4917011 CHD9 c.6834A>C p.K2278N Substitution - Missense Liver COSM4829488 ARID2 c.4174C>G p.P1392A Substitution - Missense Cervix COSM4830282 KMT2D c.14320G>A p.D4774N Substitution - Missense Cervix COSM4825032 ORC1 c.841G>C p.D281H Substitution - Missense Cervix COSM4958519 ASXL3 c.2357C>T p.A786V Substitution - Missense Liver COSM4982026 PYGO1 c.865T>C p.S289P Substitution - Missense Oesophagus COSM5020752 KMT2C c.10979C>T p.S3660L Substitution - Missense Soft_tissue COSM5023934 ASXL3 c.251A>G p.N84S Substitution - Missense Bone COSM5048940 KMT2C c.13945G>C p.E4649Q Substitution - Missense Oesophagus COSM5370542 ZMYND11 c.387G>A p.M129I Substitution - Missense Skin COSM5378665 TDRD5 c.937G>A p.G313S Substitution - Missense Skin COSM5512490 CHD7 c.7958G>A p.R2653Q Substitution - Missense Biliary_tract COSM5473411 BAZ2A_ENST00000379441 c.1745C>A p.P582H Substitution - Missense Large_intestine COSM5443785 BRD1 c.2383C>T p.L795L Substitution - coding silent Oesophagus COSM5625179 NCOR1 c.334G>T p.E112* Substitution - Nonsense Oesophagus COSM5720727 PRDM13 c.391G>A p.E131K Substitution - Missense Skin COSM5723097 DNMT3B c.2215C>T p.L739L Substitution - coding silent Skin COSM5716146 TDRD10 c.24C>T p.P8P Substitution - coding silent Skin COSM5721443 EHMT1 c.344C>T p.S115L Substitution - Missense Skin COSM5738089 MLL5 c.695G>A p.G232E Substitution - Missense Small_intestine COSM5578493 ERCC6 c.4113T>A p.S1371R Substitution - Missense Skin COSM5621231 MBD6 c.3007C>A p.P1003T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5593409 TDRD1 c.2465C>T p.P822L Substitution - Missense Skin COSM5595837 HCFC1 c.5609C>T p.S1870F Substitution - Missense Skin COSM5555348 SFMBT1 c.1048G>T p.G350C Substitution - Missense Prostate COSM5555676 ELP3 c.1573G>A p.G525S Substitution - Missense Prostate COSM5879963 SMC1A c.2420G>A p.R807H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5878920 TET2 c.119T>C p.L40P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5818595 PYGO1 c.932G>A p.R311K Substitution - Missense Liver COSM5959613 KMT2A c.10215G>T p.M3405I Substitution - Missense Thyroid COSM5989454 HDAC6 c.2126G>T p.R709L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Bone COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51384 IDH1 c.? p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716177 EZH2 c.? p.Y646H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1238047 ARID1A c.? p.Q1334_R1335insQ Insertion - In frame Ovary COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM22571 MEN1 c.? p.E392* Substitution - Nonsense Pancreas COSM5945712 ATRX c.? p.R1426* Substitution - Nonsense Central_nervous_system COSM1061 SMARCB1 c.352_353insA p.T118fs*52 Insertion - Frameshift Central_nervous_system COSM3724494 DNMT3A c.? p.R736C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5642811 ATXN7 c.1958C>T p.P653L Substitution - Missense Oesophagus COSM3372721 NCOA1 c.3387G>A p.Q1129Q Substitution - coding silent Thyroid COSM1616489 EP300 c.726_729+1delTAAGG p.? Unknown Liver COSM3160305 PHF3 c.3783A>G p.I1261M Substitution - Missense Liver COSM4951170 ARID2 c.3543_3544insT p.A1183fs*58 Insertion - Frameshift Liver COSM87889 ARID1A c.1015delG p.A339fs*24 Deletion - Frameshift Liver COSM905717 KDM1A c.1926C>T p.C642C Substitution - coding silent Endometrium COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM1749639 BRD7 c.130C>A p.H44N Substitution - Missense Urinary_tract COSM12998 TIF1 c.1208C>A p.T403N Substitution - Missense Lung COSM1386956 CBX4 c.1523_1524insGGCGGC p.A510_P511insAA Insertion - In frame Large_intestine COSM249560 KMT2C c.5053G>T p.A1685S Substitution - Missense Oesophagus COSM5718949 HELLS c.344C>T p.S115L Substitution - Missense Skin COSM471546 JMJD5 c.1202A>G p.Y401C Substitution - Missense Kidney COSM3431055 MLL5 c.2597-1G>T p.? Unknown Large_intestine COSM5670280 KMT2D c.10880T>G p.L3627* Substitution - Nonsense Soft_tissue COSM3733522 NCOR1 c.59A>C p.Y20S Substitution - Missense Upper_aerodigestive_tract COSM1315894 TRIM33 c.1675C>A p.P559T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM399061 PRDM15 c.986G>C p.G329A Substitution - Missense Lung COSM5762940 SMC1A c.1301G>A p.R434Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Soft_tissue COSM5605109 TDRD6 c.291C>T p.F97F Substitution - coding silent Skin COSM3656879 TAF1L c.469C>T p.P157S Substitution - Missense Skin COSM5363485 GTF3C1 c.982G>A p.V328I Substitution - Missense Large_intestine COSM1300950 SETD3 c.1220G>A p.R407K Substitution - Missense Urinary_tract COSM2081888 MEAF6 c.276C>A p.S92S Substitution - coding silent Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM5748999 PBRM1 c.2005G>C p.V669L Substitution - Missense Pancreas COSM1287368 PRDM4 c.2198A>G p.E733G Substitution - Missense Autonomic_ganglia COSM2208053 GATAD2B c.1477G>T p.V493L Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM3733523 NCOR1 c.14G>T p.G5V Substitution - Missense Upper_aerodigestive_tract COSM5730766 KMT2D c.2596C>T p.Q866* Substitution - Nonsense Breast COSM3365356 SETD2 c.3206+1G>T p.? Unknown Kidney COSM1732148 KDM5C c.1864T>C p.W622R Substitution - Missense Large_intestine COSM5896331 RAI1 c.5590G>A p.G1864R Substitution - Missense Skin COSM4725142 SETD1A c.2842C>T p.R948* Substitution - Nonsense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM474094 DNMT1 c.3886T>C p.F1296L Substitution - Missense Kidney COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Soft_tissue COSM4796219 WHSC1 c.1091G>A p.G364D Substitution - Missense Liver COSM1099935 MYST3 c.2843G>A p.R948Q Substitution - Missense Stomach COSM1583408 SETDB1 c.56C>T p.S19F Substitution - Missense Endometrium COSM4806058 HELLS c.1999G>T p.V667L Substitution - Missense Liver COSM4466639 TAF1L c.1445C>T p.P482L Substitution - Missense Skin COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM96362 BAP1 c.188C>G p.S63C Substitution - Missense Eye COSM3771708 ARID1A c.687C>A p.Y229* Substitution - Nonsense Pancreas COSM3670194 CREBBP c.5383T>C p.C1795R Substitution - Missense Central_nervous_system COSM5004908 CHD2 c.1771G>A p.A591T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4034232 GLYATL1 c.953G>A p.C318Y Substitution - Missense Stomach COSM3013760 PRDM9 c.219delC p.F73fs*36 Deletion - Frameshift Oesophagus COSM41294 IDH1 c.? p.R132C Substitution - Missense Biliary_tract COSM41294 IDH1 c.? p.R132C Substitution - Missense Biliary_tract COSM53202 ASXL1 c.1900_1901insA p.R634fs*24 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM427968 TAF3 c.499G>T p.E167* Substitution - Nonsense Breast COSM41294 IDH1 c.? p.R132C Substitution - Missense Biliary_tract COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM76004 POGZ c.3499G>T p.G1167C Substitution - Missense Ovary COSM3597981 SETD5_ENST00000402198 c.3793C>A p.H1265N Substitution - Missense Skin COSM351287 CHD1 c.4644A>T p.R1548S Substitution - Missense Lung COSM3737346 ATF7IP c.2987C>T p.S996F Substitution - Missense Soft_tissue COSM5907456 PHF14 c.251C>T p.S84F Substitution - Missense Skin COSM4789921 KMT2D c.4450C>A p.Q1484K Substitution - Missense Liver COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5945065 TET2 c.4553C>G p.S1518* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1026847 CHD6 c.7116T>G p.V2372V Substitution - coding silent Endometrium COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Skin COSM5516313 SMARCA5 c.2257C>T p.R753C Substitution - Missense Biliary_tract COSM4954934 ASH1L c.4080G>T p.M1360I Substitution - Missense Liver COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4742125 ZBTB33 c.1789T>C p.Y597H Substitution - Missense Large_intestine COSM4440709 TBL1XR1 c.148A>T p.I50F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4162024 KMT2C c.946A>T p.T316S Substitution - Missense Upper_aerodigestive_tract COSM345465 FXR1 c.16G>T p.V6L Substitution - Missense Lung COSM1184487 BAZ2A_ENST00000379441 c.5377C>T p.R1793W Substitution - Missense Large_intestine COSM4774820 NCOA3 c.3805_3806insCAG p.Q1269>PE Complex - insertion inframe Stomach COSM1201008 CHD7 c.2573G>A p.R858Q Substitution - Missense Large_intestine COSM5190031 GLYR1 c.991G>A p.V331M Substitution - Missense Large_intestine COSM5051077 KDM2A c.2683C>T p.R895W Substitution - Missense Stomach COSM1121688 PHF16 c.158A>C p.K53T Substitution - Missense Endometrium COSM473825 SETBP1 c.68_69CC>GG p.S23>W Complex Kidney COSM87010 DNMT3A c.2309C>G p.S770W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5739535 PRMT8 c.1066G>A p.G356R Substitution - Missense Small_intestine COSM2152534 PRDM15 c.985G>A p.G329S Substitution - Missense Central_nervous_system COSM3973894 ATRX c.6111-1G>A p.? Unknown Central_nervous_system COSM5834715 BAP1 c.639_640insT p.I214fs*29 Insertion - Frameshift Breast COSM1727925 SMEK2 c.2194A>T p.T732S Substitution - Missense Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4608101 HDAC8 c.890C>A p.A297E Substitution - Missense Adrenal_gland COSM5758309 DUSP1 c.36C>T p.G12G Substitution - coding silent Bone COSM1158877 MORF4L2 c.615C>T p.P205P Substitution - coding silent Pancreas COSM138410 FXR1 c.1322G>A p.R441H Substitution - Missense Skin COSM5615034 SP140_ENST00000392045 c.779C>T p.T260I Substitution - Missense Lung COSM4150076 KDM5A c.3250G>A p.G1084R Substitution - Missense Prostate COSM4766087 TET2 c.2263G>T p.E755* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5707566 DNMT3L c.1081C>T p.P361S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM993337 GATAD2A c.155G>A p.R52Q Substitution - Missense Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM261647 KIAA2026_ENST00000399933 c.4934C>A p.S1645Y Substitution - Missense Endometrium COSM3555266 PHF21B c.687C>T p.F229F Substitution - coding silent Skin COSM1183568 ARID2 c.4196T>G p.L1399* Substitution - Nonsense Large_intestine COSM5001041 PHC2 c.1420G>T p.E474* Substitution - Nonsense Pancreas COSM4942499 SRCAP c.2141A>G p.K714R Substitution - Missense Liver COSM3919744 NSD1 c.5389C>T p.L1797F Substitution - Missense Skin COSM480172 SETD2 c.2455C>T p.R819* Substitution - Nonsense Kidney COSM4793443 KDM1B c.1118G>T p.G373V Substitution - Missense Liver COSM2968200 SMC1A c.386A>G p.K129R Substitution - Missense Large_intestine COSM2067795 ARID2 c.994C>T p.L332F Substitution - Missense Skin COSM4700946 MBD1 c.1352delC p.P451fs*39 Deletion - Frameshift Large_intestine COSM985446 CHD3 c.2053G>T p.E685* Substitution - Nonsense Endometrium COSM3819613 KAT2A c.2396G>A p.R799Q Substitution - Missense Breast COSM1040972 MECOM c.613C>A p.R205S Substitution - Missense Endometrium COSM5013911 STK31 c.2608G>A p.V870I Substitution - Missense Kidney COSM392443 SP100 c.44_45delAA p.E15fs*8 Deletion - Frameshift Lung COSM4134435 ASXL1 c.3759T>C p.S1253S Substitution - coding silent Soft_tissue COSM5351655 ATRX c.5494G>A p.E1832K Substitution - Missense Lung COSM3710032 TTF2 c.2257G>C p.V753L Substitution - Missense Upper_aerodigestive_tract COSM4767398 ATRX c.5657C>T p.P1886L Substitution - Missense Autonomic_ganglia COSM168089 KMT2D c.6251delC p.P2084fs*30 Deletion - Frameshift Stomach COSM3415171 JMJD1C c.2413C>T p.R805* Substitution - Nonsense Large_intestine COSM3401038 RERE c.3464C>T p.A1155V Substitution - Missense Central_nervous_system COSM52838 PBRM1 c.3553C>T p.R1185* Substitution - Nonsense Kidney COSM1249112 CREBBP c.2528T>A p.L843Q Substitution - Missense Oesophagus COSM88784 EP300 c.4879C>T p.R1627W Substitution - Missense Urinary_tract COSM4500966 BRWD1 c.5773C>T p.L1925L Substitution - coding silent Skin COSM1735705 CREBBP c.? p.E1035* Substitution - Nonsense Skin COSM1675365 KAT6B c.3750A>C p.K1250N Substitution - Missense Large_intestine COSM3368124 KAT6B c.461T>G p.L154R Substitution - Missense Thyroid COSM339410 DIDO1 c.5054G>T p.C1685F Substitution - Missense Lung COSM3060104 MBD4 c.1242A>G p.T414T Substitution - coding silent Large_intestine COSM1185374 ARID1A c.6685G>T p.D2229Y Substitution - Missense Lung COSM4620063 CXXC1 c.1958G>T p.S653I Substitution - Missense Large_intestine COSM4569527 MBD5 c.1815T>C p.S605S Substitution - coding silent Skin COSM4663929 ATAD2 c.2528C>T p.A843V Substitution - Missense Large_intestine COSM5890953 BAHCC1 c.6787C>T p.P2263S Substitution - Missense Skin COSM4018353 KMT2A c.11707C>T p.R3903C Substitution - Missense Stomach COSM5425166 MSH6 c.642C>T p.Y214Y Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM2161463 SFMBT2 c.435C>T p.D145D Substitution - coding silent Stomach COSM1334497 PYGO2 c.640C>T p.R214* Substitution - Nonsense Large_intestine COSM455564 WDR5 c.846T>A p.L282L Substitution - coding silent Breast COSM1122201 HDAC6 c.2512A>C p.K838Q Substitution - Missense Endometrium COSM485095 KMT2C c.3309T>A p.C1103* Substitution - Nonsense Kidney COSM3509559 CREBBP c.2963C>T p.P988L Substitution - Missense Skin COSM5894003 CARM1 c.650C>T p.T217I Substitution - Missense Skin COSM4775128 DNMT3A c.1554+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM381145 ALKBH1 c.1070C>T p.P357L Substitution - Missense Lung COSM1071060 BRD9 c.819G>A p.T273T Substitution - coding silent Endometrium COSM5992838 HDAC1 c.1106A>G p.N369S Substitution - Missense Prostate COSM146006 TET2 c.4688C>T p.S1563F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM918679 ERCC6 c.814G>A p.E272K Substitution - Missense Cervix COSM3907603 UHRF2 c.876A>T p.G292G Substitution - coding silent Stomach COSM1038083 MBD4 c.368C>A p.S123* Substitution - Nonsense Endometrium COSM5490608 KMT2D c.9635G>A p.R3212Q Substitution - Missense Biliary_tract COSM1454935 PHF20L1 c.666A>G p.P222P Substitution - coding silent Large_intestine COSM5552494 BAZ1B c.2134G>T p.D712Y Substitution - Missense Prostate COSM5673188 CBX6 c.951C>T p.L317L Substitution - coding silent Soft_tissue COSM28365 KMT2C c.4549G>A p.G1517R Substitution - Missense Urinary_tract COSM126561 ASXL1 c.1730C>A p.S577* Substitution - Nonsense Upper_aerodigestive_tract COSM1745840 JMJD1C c.73G>C p.D25H Substitution - Missense Urinary_tract COSM4385524 KMT2D c.11016_11039del24 p.Q3677_Q3684delQLQQQQQQ Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM3733336 KMT2C c.2263C>T p.Q755* Substitution - Nonsense Upper_aerodigestive_tract COSM5413494 TRRAP c.4742C>T p.P1581L Substitution - Missense Skin COSM1099911 MYST3 c.4708G>A p.D1570N Substitution - Missense Endometrium COSM5773901 MBD4 c.1622G>A p.G541D Substitution - Missense Breast COSM1028988 DIDO1 c.2011C>T p.R671W Substitution - Missense Endometrium COSM723967 NCOA6 c.954G>C p.W318C Substitution - Missense Lung COSM4485493 PHRF1 c.293C>T p.S98F Substitution - Missense Skin COSM3080143 ZCWPW1 c.960C>T p.I320I Substitution - coding silent Skin COSM3751836 ERCC6 c.3637A>G p.R1213G Substitution - Missense Large_intestine COSM323723 TAF1 c.4808C>G p.T1603R Substitution - Missense Lung COSM4630389 CXXC1 c.1304G>A p.R435Q Substitution - Missense Large_intestine COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144599 KMT2D c.11039A>G p.Q3680R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1677490 EP400 c.4864C>A p.L1622I Substitution - Missense Large_intestine COSM4623769 RERE c.2367G>A p.Q789Q Substitution - coding silent Large_intestine COSM5718457 KDM4B c.2413G>A p.G805S Substitution - Missense Skin COSM4111729 KDM5D c.3861T>A p.D1287E Substitution - Missense Stomach COSM4802957 MYST3 c.3127G>T p.E1043* Substitution - Nonsense Liver COSM2813529 SMARCA4 c.1135G>A p.A379T Substitution - Missense Large_intestine COSM3097041 ATRX c.4744_4745insA p.T1582fs*19 Insertion - Frameshift Central_nervous_system COSM3920933 JARID2 c.184C>T p.L62F Substitution - Missense Skin COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Central_nervous_system COSM1437986 C5orf35 c.174A>C p.K58N Substitution - Missense Large_intestine COSM4720050 RAI1 c.1564G>A p.E522K Substitution - Missense Large_intestine COSM452728 KMT2C c.2379G>A p.S793S Substitution - coding silent Central_nervous_system COSM213520 JMJD1C c.859C>G p.P287A Substitution - Missense Breast COSM5753465 ZMYND11 c.1247A>G p.Q416R Substitution - Missense Large_intestine COSM1184394 KMT2C c.3875G>A p.R1292Q Substitution - Missense Large_intestine COSM729200 MECOM c.2543G>T p.R848L Substitution - Missense Lung COSM5606238 KDM6B c.999_1000insC p.G336fs*24 Insertion - Frameshift Skin COSM5019889 SETBP1 c.3388C>A p.P1130T Substitution - Missense Soft_tissue COSM4149999 BAP1 c.1274A>C p.K425T Substitution - Missense Ovary COSM4481200 ASXL1 c.2491C>T p.L831F Substitution - Missense Skin COSM196959 BRWD3 c.3976C>T p.R1326* Substitution - Nonsense Endometrium COSM5653009 MLL5 c.876C>T p.Y292Y Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4138709 MYST3 c.280A>G p.K94E Substitution - Missense Kidney COSM42052 TET2 c.1771C>T p.Q591* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4000327 CBX4 c.871T>C p.S291P Substitution - Missense Upper_aerodigestive_tract COSM4544616 HCFC1 c.3313G>A p.G1105R Substitution - Missense Skin COSM4663706 ASH1L c.830G>A p.S277N Substitution - Missense Large_intestine COSM1742592 AICDA c.145C>G p.L49V Substitution - Missense Urinary_tract COSM5725541 TP53BP1 c.4650T>G p.D1550E Substitution - Missense Skin COSM4603245 PCGF6 c.84_85insGCCTCC p.P28_V29insAS Insertion - In frame Upper_aerodigestive_tract COSM1262956 PRDM7 c.504G>T p.A168A Substitution - coding silent Oesophagus COSM4591023 KMT2C c.871C>T p.L291F Substitution - Missense Upper_aerodigestive_tract COSM3753948 BAZ1A c.1335A>G p.Q445Q Substitution - coding silent Breast COSM1283679 BRDT c.1145A>G p.E382G Substitution - Missense Autonomic_ganglia COSM3626166 BRPF3 c.1870C>T p.P624S Substitution - Missense Skin COSM5661505 CHD3 c.5202G>T p.G1734G Substitution - coding silent Soft_tissue COSM6008695 HDAC6 c.2585G>A p.R862K Substitution - Missense Prostate COSM4445872 EP400 c.2409+3G>A p.? Unknown Skin COSM133736 DNMT3A c.1792C>T p.R598* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM96481 CREBBP c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM2823093 KDM3A c.2145T>C p.H715H Substitution - coding silent Large_intestine COSM111693 KAT6B c.3289_3291delGAA p.E1097delE Deletion - In frame Upper_aerodigestive_tract COSM21471 HNF1A c.617G>T p.W206L Substitution - Missense Liver COSM417659 DOT1L c.1963G>T p.E655* Substitution - Nonsense Urinary_tract COSM3718130 MBD3 c.381G>A p.P127P Substitution - coding silent Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1629004 ZMYM2 c.3890C>T p.A1297V Substitution - Missense Liver COSM5618590 POGZ c.2953C>G p.L985V Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3356185 RAG2 c.871T>A p.S291T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3807731 KAT6B c.1202T>G p.V401G Substitution - Missense Breast COSM3563248 HDAC8 c.783C>T p.V261V Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4432794 KMT2C c.9786T>G p.I3262M Substitution - Missense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5474277 NCOA6 c.5542G>A p.A1848T Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3523213 KDM6B c.2417C>T p.S806F Substitution - Missense Skin COSM228110 KMT2C c.1042G>A p.D348N Substitution - Missense Soft_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5593331 SUV420H2 c.1003C>T p.R335C Substitution - Missense Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5639032 BRWD1 c.2351C>T p.S784L Substitution - Missense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3555057 TCF20 c.1944T>C p.S648S Substitution - coding silent Skin COSM1072946 NCOA7 c.2269C>T p.R757C Substitution - Missense Endometrium COSM5945048 TET2 c.3818G>T p.C1273F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6000903 TDRD3 c.1759G>A p.A587T Substitution - Missense Prostate COSM3906847 TAF1L c.2467C>T p.R823* Substitution - Nonsense Stomach COSM4591511 CBX4 c.670G>A p.G224S Substitution - Missense Upper_aerodigestive_tract COSM3563527 ATRX c.1025C>T p.S342F Substitution - Missense Skin COSM4499320 BRD7 c.539C>T p.T180I Substitution - Missense Skin COSM5165982 MTF2 c.1103C>G p.T368R Substitution - Missense Large_intestine COSM4591511 CBX4 c.670G>A p.G224S Substitution - Missense Upper_aerodigestive_tract COSM4131138 DNMT1 c.45C>A p.V15V Substitution - coding silent Thyroid COSM6014289 TRIM66 c.1196C>T p.S399F Substitution - Missense Skin COSM33732 IDH2 c.515G>T p.R172M Substitution - Missense Central_nervous_system COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM1015786 TET2 c.73T>C p.C25R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4731006 SUV420H2 c.293G>A p.R98H Substitution - Missense Large_intestine COSM5043002 IDH2 c.189G>A p.W63* Substitution - Nonsense Liver COSM985378 KDM6B c.978C>T p.G326G Substitution - coding silent Endometrium COSM4072476 CXXC1 c.563G>A p.R188Q Substitution - Missense Stomach COSM1734697 SMARCC1 c.402-3delT p.? Unknown Prostate COSM1416631 TCF20 c.605C>T p.A202V Substitution - Missense Large_intestine COSM5748877 BAZ2B c.1291C>T p.R431W Substitution - Missense Pancreas COSM5623816 MGA c.3490G>C p.E1164Q Substitution - Missense Oesophagus COSM3988371 GTF3C1 c.1193T>C p.L398P Substitution - Missense Kidney COSM4602290 CBX8 c.916C>T p.R306W Substitution - Missense Upper_aerodigestive_tract COSM5881528 ASH1L c.3997T>G p.F1333V Substitution - Missense Skin COSM4477642 BAZ2B c.216C>T p.V72V Substitution - coding silent Skin COSM5037821 ARID4A c.662+6T>C p.? Unknown Skin COSM3620162 NCOA7 c.1873A>G p.N625D Substitution - Missense Skin COSM1167991 ARID2 c.890C>T p.S297F Substitution - Missense Skin COSM3757702 BAZ2B c.6071G>A p.S2024N Substitution - Missense Bone COSM961418 RTF1 c.1304T>C p.I435T Substitution - Missense Endometrium COSM457074 HCFC1 c.5774A>G p.E1925G Substitution - Missense Breast COSM22640 MEN1 c.354_356delGAA p.K119del Deletion - In frame Gastrointestinal_tract_(site_indeterminate) COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM51223 ARID1A c.4635G>A p.W1545* Substitution - Nonsense Ovary COSM81845 TRRAP c.5865G>A p.V1955V Substitution - coding silent Ovary COSM82312 PRMT2 c.222C>T p.G74G Substitution - coding silent Ovary COSM96511 EP300 c.3040G>T p.E1014* Substitution - Nonsense Large_intestine COSM131488 ARID2 c.1177G>T p.E393* Substitution - Nonsense Liver COSM221052 KMT2D c.9187C>T p.Q3063* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM221064 KMT2D c.14479C>T p.R4827* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM221076 KMT2D c.6184delA p.T2062fs*7 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM149669 GABRG1 c.264A>G p.T88T Substitution - coding silent Thyroid COSM234249 HDAC3 c.820C>T p.R274* Substitution - Nonsense Skin COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Central_nervous_system COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Kidney COSM241126 PHF1 c.667C>T p.L223F Substitution - Missense Prostate COSM255944 EYA2 c.597G>A p.T199T Substitution - coding silent Central_nervous_system COSM282814 KMT2A c.7044C>T p.I2348I Substitution - coding silent Large_intestine COSM286720 ZMYM1 c.2037C>A p.F679L Substitution - Missense Endometrium COSM287292 GLYR1 c.1140_1141insG p.R381fs*15 Insertion - Frameshift Breast COSM276283 NCOA6 c.6175C>T p.R2059* Substitution - Nonsense Large_intestine COSM301373 KIAA2026_ENST00000399933 c.332C>T p.A111V Substitution - Missense Large_intestine COSM294356 EYA4 c.790A>G p.S264G Substitution - Missense Large_intestine COSM303907 ASXL1 c.1816C>T p.R606W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM303906 ASXL1 c.2389G>T p.E797* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM353810 MBD6 c.681C>A p.Y227* Substitution - Nonsense Lung COSM349168 JMJD5 c.509C>A p.A170E Substitution - Missense Lung COSM381998 CHD3 c.4876G>T p.G1626* Substitution - Nonsense Lung COSM379781 ZMYM4 c.1577C>A p.A526D Substitution - Missense Lung COSM414978 SFMBT2 c.2664C>G p.F888L Substitution - Missense Urinary_tract COSM459262 ZMYM1 c.1808G>A p.R603Q Substitution - Missense Skin COSM985376 KDM6B c.96G>A p.P32P Substitution - coding silent Endometrium COSM529195 TDRD10 c.578G>T p.R193L Substitution - Missense Stomach COSM682381 PHF13 c.492C>T p.P164P Substitution - coding silent Lung COSM685282 TAF3 c.99C>T p.L33L Substitution - coding silent Lung COSM941785 BAZ2A c.1474G>A p.A492T Substitution - Missense Endometrium COSM1048994 SETD5_ENST00000402198 c.2348G>A p.R783H Substitution - Missense Endometrium COSM1021268 MSH6 c.1445G>A p.R482Q Substitution - Missense Endometrium COSM743716 ACTL6B c.1113G>T p.P371P Substitution - coding silent Lung COSM758300 BRWD3 c.810A>T p.I270I Substitution - coding silent Lung COSM707546 BPTF c.1765G>C p.D589H Substitution - Missense Lung COSM1692145 SP140_ENST00000392045 c.363G>A p.M121I Substitution - Missense Skin COSM895024 PRDM2 c.4420G>A p.A1474T Substitution - Missense Endometrium COSM1000723 EZH2 c.1876G>A p.V626M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1043485 ZCWPW2 c.200G>T p.R67I Substitution - Missense Endometrium COSM971992 SETD6 c.508C>T p.P170S Substitution - Missense Endometrium COSM1073487 EYA4 c.996C>A p.P332P Substitution - coding silent Stomach COSM1124799 ZMYM3 c.3280+1G>T p.? Unknown Endometrium COSM1109435 KIAA2026_ENST00000399933 c.4745C>T p.A1582V Substitution - Missense Endometrium COSM1123035 SMC1A c.1756C>T p.R586W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1128298 CHD8 c.5007A>G p.A1669A Substitution - coding silent Prostate COSM1101408 NCOA2 c.3742C>T p.R1248* Substitution - Nonsense Large_intestine COSM1083694 MLL5 c.5508G>T p.Q1836H Substitution - Missense Endometrium COSM1228962 TET2 c.803C>T p.S268L Substitution - Missense Skin COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1236446 ING3 c.1124G>T p.G375V Substitution - Missense Autonomic_ganglia COSM1250503 DNMT3L c.538G>A p.E180K Substitution - Missense Skin COSM1228039 SUV39H2 c.92A>G p.Q31R Substitution - Missense Large_intestine COSM1180942 HDAC11 c.285delC p.V98fs*14 Deletion - Frameshift Large_intestine COSM1257404 MBD5 c.1519A>T p.S507C Substitution - Missense Oesophagus COSM1168756 KMT2D c.15117C>T p.P5039P Substitution - coding silent Pancreas COSM1603623 JMJD1C c.4415A>G p.N1472S Substitution - Missense Liver COSM1604425 PRMT3 c.1151A>C p.D384A Substitution - Missense Liver COSM1303912 DNMT1 c.1164C>G p.I388M Substitution - Missense Urinary_tract COSM1314026 ASH2L c.796C>T p.P266S Substitution - Missense Urinary_tract COSM1306593 ATAD2B_ENST00000238789 c.3937C>G p.Q1313E Substitution - Missense Urinary_tract COSM1372821 MGA c.3737_3738insA p.E1249fs*25 Insertion - Frameshift Large_intestine COSM1437305 NIPBL c.6194T>G p.F2065C Substitution - Missense Large_intestine COSM1462650 KIAA2026_ENST00000399933 c.2187delA p.A730fs*26 Deletion - Frameshift Large_intestine COSM1465252 ZBTB33 c.1056T>C p.N352N Substitution - coding silent Large_intestine COSM1365141 ACTR6 c.704A>G p.D235G Substitution - Missense Large_intestine COSM1566442 EP300 c.942C>T p.G314G Substitution - coding silent Large_intestine COSM1566684 PBRM1 c.2211A>G p.T737T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1562919 TP53BP1 c.3712C>T p.R1238C Substitution - Missense Large_intestine COSM1469496 ATRX c.287A>C p.K96T Substitution - Missense Large_intestine COSM1587030 ZMYM2 c.479T>G p.F160C Substitution - Missense Endometrium COSM1587033 ZMYM2 c.190G>A p.E64K Substitution - Missense Breast COSM1631935 DNMT3A c.1424C>T p.T475I Substitution - Missense Liver COSM1636457 SCML2 c.971G>T p.C324F Substitution - Missense Liver COSM1675574 TDRD1 c.1063G>T p.E355* Substitution - Nonsense Large_intestine COSM1700652 PHF20L1 c.368G>T p.G123V Substitution - Missense Skin COSM1716512 EP300 c.4540G>A p.E1514K Substitution - Missense Oesophagus COSM1710319 EZH1 c.16C>T p.P6S Substitution - Missense Skin COSM2156557 SMARCA2 c.667_669delCAG p.Q238delQ Deletion - In frame Skin COSM2153367 AICDA c.232G>A p.V78I Substitution - Missense Stomach COSM2687920 NIPBL c.4241T>C p.V1414A Substitution - Missense Large_intestine COSM2834145 BRD7 c.941_942delAG p.E314fs*5 Deletion - Frameshift Large_intestine COSM2909108 HDAC4 c.2960C>G p.A987G Substitution - Missense Oesophagus COSM2920017 CREBBP c.2615C>T p.T872M Substitution - Missense Stomach COSM2965391 KDM6A c.2416G>A p.A806T Substitution - Missense Upper_aerodigestive_tract COSM3090601 PSIP1 c.150-1G>T p.? Unknown Urinary_tract COSM3236439 HCFC1 c.5613C>T p.N1871N Substitution - coding silent Large_intestine COSM3365364 BAP1 c.434C>G p.A145G Substitution - Missense Kidney COSM3381254 NIPBL c.7860+10A>G p.? Unknown Pancreas COSM3488188 PRDM16 c.781T>A p.Y261N Substitution - Missense Skin COSM3499055 UBR7 c.708C>T p.L236L Substitution - coding silent Skin COSM3422219 MBD1 c.778C>T p.R260* Substitution - Nonsense Large_intestine COSM3461529 KMT2D c.12589C>T p.L4197F Substitution - Missense Skin COSM3464573 YEATS4 c.127C>T p.H43Y Substitution - Missense Skin COSM3657696 KIAA2026_ENST00000399933 c.3494C>A p.P1165Q Substitution - Missense Skin COSM3703936 SETD8 c.290-3C>A p.? Unknown Liver COSM3707019 MYST1 c.681+1G>A p.? Unknown Liver COSM3735029 SMARCA4 c.233_237CCATG>ACC p.S78fs*3 Complex - frameshift Ovary COSM3734907 EZH2 c.597G>C p.K199N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3739962 KDM3A c.420A>G p.V140V Substitution - coding silent Liver COSM3765625 SETD1B c.1485G>A p.A495A Substitution - coding silent Thyroid COSM3808489 KMT2A c.9476A>C p.H3159P Substitution - Missense Breast COSM3858217 L3MBTL3 c.431C>A p.A144D Substitution - Missense Stomach COSM3868527 KMT2A c.8537C>A p.P2846H Substitution - Missense Skin COSM3842807 TCF20 c.4230T>G p.G1410G Substitution - coding silent Breast COSM3824009 SETD2 c.935C>A p.S312* Substitution - Nonsense Breast COSM3875084 PHF3 c.2912G>A p.R971Q Substitution - Missense Stomach COSM3901347 NCOA2 c.1031G>A p.G344D Substitution - Missense Stomach COSM4012794 PWWP2B c.958C>T p.R320W Substitution - Missense Stomach COSM4022061 SETDB1 c.869A>C p.K290T Substitution - Missense Stomach COSM4009502 PHF13 c.212A>G p.D71G Substitution - Missense Stomach COSM4046353 ZMYM2 c.2063A>C p.K688T Substitution - Missense Stomach COSM3984546 RNF2 c.189T>C p.T63T Substitution - coding silent Kidney COSM4085884 BAZ2B c.4729G>A p.D1577N Substitution - Missense Stomach COSM4117993 SETD2 c.5242G>C p.D1748H Substitution - Missense Stomach COSM4116590 KAT2B c.1571A>G p.H524R Substitution - Missense Stomach COSM4064155 NCOR1 c.4561C>T p.L1521L Substitution - coding silent Stomach COSM4138900 EHMT1 c.1200A>C p.G400G Substitution - coding silent Kidney COSM4144868 KAT6B c.5850A>G p.V1950V Substitution - coding silent Thyroid COSM4162020 KMT2C c.2189C>A p.S730Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4164206 KMT2C c.11184C>T p.C3728C Substitution - coding silent Ovary COSM4385592 TET2 c.3102_3103insT p.H1036fs*7 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4383829 TET2 c.2056A>T p.R686* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4596849 FTO c.1418G>A p.R473Q Substitution - Missense Upper_aerodigestive_tract COSM4490577 MYST3 c.3660C>T p.P1220P Substitution - coding silent Skin COSM4494649 NCOA6 c.4374C>T p.S1458S Substitution - coding silent Skin COSM4511622 CBX4 c.874C>T p.P292S Substitution - Missense Skin COSM4584547 PBRM1 c.3335A>G p.N1112S Substitution - Missense Bone COSM4678886 DNMT1 c.1537G>A p.V513M Substitution - Missense Large_intestine COSM4695060 KDM6B c.4521C>T p.N1507N Substitution - coding silent Large_intestine COSM4672102 CHD8 c.2435G>A p.R812Q Substitution - Missense Large_intestine COSM4713992 PHF21A c.1802C>T p.P601L Substitution - Missense Large_intestine COSM4611054 ASXL1 c.1935delT p.G646fs*57 Deletion - Frameshift Large_intestine COSM4653802 WHSC1 c.2682G>A p.W894* Substitution - Nonsense Large_intestine COSM4770472 FMR1 c.901G>T p.G301* Substitution - Nonsense Adrenal_gland COSM4619227 INTS12 c.983A>G p.Q328R Substitution - Missense Large_intestine COSM4794196 BAZ2A c.3744G>A p.Q1248Q Substitution - coding silent Liver COSM4798543 EP400 c.4381G>A p.A1461T Substitution - Missense Liver COSM4848659 TBL1XR1 c.649G>C p.E217Q Substitution - Missense Cervix COSM4849641 ATAD2 c.847G>A p.E283K Substitution - Missense Cervix COSM4829297 TDRD6 c.519G>T p.V173V Substitution - coding silent Soft_tissue COSM4949635 ARID1A c.31_56del26 p.S11fs*91 Deletion - Frameshift Salivary_gland COSM5003107 ACTB c.1030T>G p.S344A Substitution - Missense Pancreas COSM4974444 KMT2C c.7933G>A p.V2645I Substitution - Missense Oesophagus COSM5029832 PHIP c.3706C>T p.R1236* Substitution - Nonsense Bone COSM5010751 ACTA1 c.991-1G>T p.? Unknown Kidney COSM5009850 EP400 c.9234G>A p.S3078S Substitution - coding silent Large_intestine COSM5343043 KDM6B c.4067T>C p.V1356A Substitution - Missense Large_intestine COSM5408360 TRRAP c.6194C>T p.S2065F Substitution - Missense Skin COSM5412750 HDAC6 c.291C>T p.F97F Substitution - coding silent Skin COSM5499481 PBRM1 c.772_773insA p.N258fs*6 Insertion - Frameshift Biliary_tract COSM5494275 KDM6A c.2009A>G p.Q670R Substitution - Missense Biliary_tract COSM5470029 KMT2D c.10404G>A p.Q3468Q Substitution - coding silent Large_intestine COSM5477938 ACTR6 c.566C>A p.S189Y Substitution - Missense Large_intestine COSM5455493 BRPF3 c.1991A>G p.N664S Substitution - Missense Large_intestine COSM5453111 CHD6 c.2606C>T p.T869I Substitution - Missense Large_intestine COSM5629915 WHSC1L1 c.1647C>T p.N549N Substitution - coding silent Oesophagus COSM5751851 EED c.139_140insT p.G47fs*5 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5716913 POGZ c.3153C>T p.F1051F Substitution - coding silent Skin COSM5602892 BAZ2A c.1894-1G>A p.? Unknown Skin COSM5606947 PRDM15 c.3124C>T p.H1042Y Substitution - Missense Skin COSM5618781 BPTF c.5385T>C p.D1795D Substitution - coding silent Breast COSM5596316 ASXL3 c.695C>T p.S232L Substitution - Missense Skin COSM5606738 KMT2D c.5238C>A p.S1746S Substitution - coding silent Skin COSM5673666 EYA2 c.400_415+6del22 p.? Unknown Soft_tissue COSM5691279 AP001011.3_ENST00000320876 c.3243C>G p.I1081M Substitution - Missense Soft_tissue COSM5546746 MGMT c.119delC p.A40fs*20 Deletion - Frameshift Prostate COSM5567721 KDM5C c.860C>T p.S287L Substitution - Missense Prostate COSM5782785 TET2 c.3795G>A p.L1265L Substitution - coding silent Breast COSM5952075 MYST3 c.1504C>T p.P502S Substitution - Missense Oesophagus COSM5919556 EYA1 c.949C>T p.P317S Substitution - Missense Skin COSM5905358 ASH1L c.7909C>T p.R2637W Substitution - Missense Skin COSM5986952 KDM4D c.1112C>T p.A371V Substitution - Missense Salivary_gland COSM5996613 PRDM13 c.435G>A p.T145T Substitution - coding silent Prostate COSM5945725 ATRX c.? p.G2075R Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM5880080 BAP1 c.? p.R385* Substitution - Nonsense Meninges COSM53140 TET2 c.? p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41890 TET2 c.? p.I1873T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4169399 IDH2 c.? p.G144R Substitution - Missense Skin COSM394171 SETBP1 c.2842C>A p.R948S Substitution - Missense Lung COSM4450209 BAZ2A c.5007-1G>T p.? Unknown Skin COSM4155629 JHDM1D c.988G>C p.D330H Substitution - Missense Kidney COSM3751283 ORC1 c.1115C>T p.A372V Substitution - Missense Large_intestine COSM86082 KMT2C c.2418C>G p.S806S Substitution - coding silent Central_nervous_system COSM4385699 ASXL1 c.2638_2639insA p.T880fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM682684 MTF2 c.1533G>T p.Q511H Substitution - Missense Lung COSM1559372 HNF1A c.864G>T p.G288G Substitution - coding silent Central_nervous_system COSM4842654 BRWD1 c.2458G>A p.E820K Substitution - Missense Cervix COSM5999242 EPC1 c.1127G>A p.S376N Substitution - Missense Prostate COSM1319435 KDM6A c.4006-1G>A p.? Unknown Pancreas COSM5808660 PHRF1 c.3511G>T p.A1171S Substitution - Missense Liver COSM740043 EYA4 c.540C>A p.A180A Substitution - coding silent Soft_tissue COSM954440 CHD8 c.3274C>T p.R1092C Substitution - Missense Stomach COSM87151 TET2 c.4087A>T p.K1363* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4713890 PHC1 c.1230G>A p.R410R Substitution - coding silent Large_intestine COSM4585401 PHF15 c.1983C>T p.A661A Substitution - coding silent Bone COSM5968488 SETDB1 c.839T>A p.I280N Substitution - Missense Genital_tract COSM3253647 BAG6 c.2887C>T p.R963W Substitution - Missense Large_intestine COSM1018656 ATAD2B_ENST00000238789 c.1952A>C p.Q651P Substitution - Missense Endometrium COSM3583825 KDM3A c.3305A>C p.N1102T Substitution - Missense Skin COSM906837 SMYD3 c.368_369delCT p.S123fs*5 Deletion - Frameshift Endometrium COSM1423513 SETD2 c.5847G>A p.S1949S Substitution - coding silent Large_intestine COSM5550609 PRMT2 c.241G>A p.A81T Substitution - Missense Prostate COSM3473717 TDRKH c.1114C>T p.R372* Substitution - Nonsense Skin COSM244719 GLYR1 c.1244G>A p.S415N Substitution - Missense Prostate COSM3453549 RSF1 c.3192T>A p.S1064S Substitution - coding silent Skin COSM4767577 KMT2C c.590+9T>A p.? Unknown Biliary_tract COSM5982221 KDM6A c.2232C>T p.V744V Substitution - coding silent Upper_aerodigestive_tract COSM3947623 C5orf35 c.417C>G p.F139L Substitution - Missense Lung COSM4162008 KMT2C c.2578C>T p.P860S Substitution - Missense Thyroid COSM1109481 KIAA2026_ENST00000399933 c.989G>A p.R330H Substitution - Missense Endometrium COSM5922657 TRIM24 c.1771C>T p.P591S Substitution - Missense Skin COSM187567 CHD6 c.5926G>A p.A1976T Substitution - Missense Stomach COSM3089762 EHMT1 c.3698G>A p.R1233Q Substitution - Missense Large_intestine COSM24910 HNF1A c.198_202delGACTC p.T67fs*27 Deletion - Frameshift Liver COSM3850433 KDM3B c.777C>T p.S259S Substitution - coding silent Stomach COSM5950134 PHF6 c.948T>G p.N316K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4633916 ARID4A c.2071G>T p.G691* Substitution - Nonsense Large_intestine COSM13390 MSH6 c.1421T>C p.V474A Substitution - Missense Endometrium COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4705946 NCOA2 c.817C>T p.R273C Substitution - Missense Stomach COSM4274575 SMCHD1 c.475G>A p.A159T Substitution - Missense Upper_aerodigestive_tract COSM4410992 SETD2 c.3446C>T p.T1149I Substitution - Missense Kidney COSM5651861 PRDM10 c.2287A>T p.K763* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5510236 TRRAP c.367-10_367-9insT p.? Unknown Biliary_tract COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5590194 CHD6 c.3462C>T p.F1154F Substitution - coding silent Skin COSM5642805 PBRM1 c.2240A>G p.K747R Substitution - Missense Autonomic_ganglia COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM5946510 ATAT1 c.300A>C p.G100G Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3770874 DIDO1 c.3496G>A p.A1166T Substitution - Missense Pancreas COSM5935885 KDM5A c.3001G>A p.A1001T Substitution - Missense Skin COSM3828714 PRDM1 c.601G>A p.E201K Substitution - Missense Breast COSM455665 EHMT1 c.755C>T p.A252V Substitution - Missense Breast COSM87001 DNMT3A c.2644C>A p.R882S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5616816 TP53BP1 c.324T>A p.I108I Substitution - coding silent Lung COSM433035 BAZ1A c.2362G>A p.E788K Substitution - Missense Breast COSM4074048 SMARCA4 c.2995G>A p.D999N Substitution - Missense Stomach COSM1664274 SMARCD2 c.331C>T p.R111W Substitution - Missense Kidney COSM87132 TET2 c.3787T>G p.C1263G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87012 DNMT3A c.1903C>T p.R635W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1090913 ACTB c.628C>T p.R210C Substitution - Missense Endometrium COSM3750192 PHF2 c.2964G>T p.P988P Substitution - coding silent Large_intestine COSM1021287 MSH6 c.2879A>C p.N960T Substitution - Missense Endometrium COSM277378 SMARCA2 c.4261C>T p.R1421* Substitution - Nonsense Liver COSM421972 PHF19 c.1659G>A p.E553E Substitution - coding silent Urinary_tract COSM1453148 TRRAP c.2541G>A p.R847R Substitution - coding silent Large_intestine COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1195718 NCOA3 c.637G>A p.A213T Substitution - Missense Lung COSM3922829 JHDM1D c.606C>A p.D202E Substitution - Missense Skin COSM1183251 APOBEC1 c.223G>A p.D75N Substitution - Missense Skin COSM331495 KDM1B c.1075G>A p.D359N Substitution - Missense Lung COSM251357 ARID1A c.6774_6792del19 p.L2259fs*2 Deletion - Frameshift Liver COSM712792 SIRT6 c.265G>T p.A89S Substitution - Missense Lung COSM3750243 TRIM33 c.1146A>G p.Q382Q Substitution - coding silent Large_intestine COSM1449030 EZH2 c.552T>C p.D184D Substitution - coding silent Large_intestine COSM4101615 BRWD1 c.324G>A p.R108R Substitution - coding silent Stomach COSM290301 BRDT c.1107C>T p.F369F Substitution - coding silent Large_intestine COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Central_nervous_system COSM3724541 MEN1 c.131_132insT p.E45fs*72 Insertion - Frameshift Lung COSM1302626 SUZ12 c.1801G>C p.E601Q Substitution - Missense Urinary_tract COSM1008138 BAZ2B c.6446C>T p.A2149V Substitution - Missense Endometrium COSM1227875 STK31 c.2183G>A p.R728Q Substitution - Missense Skin COSM4915360 EPC1 c.976-2A>G p.? Unknown Liver COSM6007445 CHD7 c.2167G>A p.E723K Substitution - Missense Prostate COSM4755027 ERCC6 c.3805G>A p.D1269N Substitution - Missense Stomach COSM1334940 HDGF c.149delT p.F50fs*105 Deletion - Frameshift Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1469603 BRWD3 c.1086+2T>C p.? Unknown Large_intestine COSM4725182 SETDB1 c.198A>G p.T66T Substitution - coding silent Liver COSM5794239 CARM1 c.669+7G>A p.? Unknown Breast COSM110794 TET2 c.368_368delG p.R123fs*5 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4819496 SETD5_ENST00000402198 c.2827G>C p.D943H Substitution - Missense Cervix COSM207998 MECOM c.1839delA p.G614fs*30 Deletion - Frameshift Large_intestine COSM3889029 CDYL2 c.1083T>G p.G361G Substitution - coding silent Skin COSM5708583 TBL1XR1 c.965T>G p.F322C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM88525 CHD5 c.3772G>C p.D1258H Substitution - Missense Ovary COSM4452988 KMT2C c.2386A>C p.M796L Substitution - Missense Skin COSM2911852 DNMT3A c.361G>A p.A121T Substitution - Missense Large_intestine COSM3727225 CDYL2 c.404T>C p.V135A Substitution - Missense Skin COSM4481440 KMT2C c.2509C>T p.P837S Substitution - Missense Skin COSM5377596 POGZ c.3458G>A p.G1153E Substitution - Missense Skin COSM4935441 DPF2 c.1048C>G p.R350G Substitution - Missense Liver COSM4480702 SETBP1 c.2443C>T p.P815S Substitution - Missense Skin COSM427630 ERCC6 c.4238A>G p.Q1413R Substitution - Missense Soft_tissue COSM5819862 DIDO1 c.4881G>T p.A1627A Substitution - coding silent Liver COSM4701404 MECP2 c.215C>T p.P72L Substitution - Missense Large_intestine COSM4564663 BAZ2A_ENST00000379441 c.1339_1340CC>TT p.P447L Substitution - Missense Skin COSM2078121 PRDM16 c.516C>T p.I172I Substitution - coding silent Large_intestine COSM3840052 PCGF1 c.420C>T p.F140F Substitution - coding silent Breast COSM1216529 KAT6B c.2389A>G p.S797G Substitution - Missense Large_intestine COSM956523 ARID4A c.663-1G>T p.? Unknown Endometrium COSM5823016 MLL5 c.611C>G p.T204S Substitution - Missense Liver COSM4189891 PRDM10 c.2187G>C p.M729I Substitution - Missense Breast COSM349882 TDRD5 c.2593G>C p.E865Q Substitution - Missense Lung COSM3865336 PRDM16 c.2398G>A p.E800K Substitution - Missense Skin COSM1465246 ZBTB33 c.563_564insTGA p.D194_V195insD Insertion - In frame Upper_aerodigestive_tract COSM3768471 BAZ1B c.122G>A p.R41H Substitution - Missense Liver COSM5388581 SMARCA4 c.1573G>A p.E525K Substitution - Missense Skin COSM5974871 SFMBT1 c.213C>T p.T71T Substitution - coding silent Upper_aerodigestive_tract COSM51988 BAP1 c.273T>G p.C91W Substitution - Missense Pleura COSM2154463 SMEK2 c.1833A>G p.I611M Substitution - Missense Central_nervous_system COSM3554897 L3MBTL2 c.851G>A p.R284Q Substitution - Missense Skin COSM4830299 PHF2 c.1249G>C p.E417Q Substitution - Missense Cervix COSM3738126 DNMT3A c.1340C>G p.A447G Substitution - Missense Soft_tissue COSM256035 DNMT3A c.1648G>A p.G550R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4777561 KDM3A c.1638C>A p.C546* Substitution - Nonsense Prostate COSM454808 PRDM14 c.1184-1_1184insC p.E395fs*9 Unknown Breast COSM1312856 SMARCD3 c.414G>A p.M138I Substitution - Missense Urinary_tract COSM985462 CHD3 c.2550G>T p.E850D Substitution - Missense Endometrium COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Central_nervous_system COSM4593173 CBX4 c.691A>C p.N231H Substitution - Missense Upper_aerodigestive_tract COSM5607591 RAG2 c.704G>A p.R235K Substitution - Missense Skin COSM3745514 SND1 c.94G>A p.A32T Substitution - Missense Liver COSM1682288 EP300 c.4319C>T p.P1440L Substitution - Missense Lung COSM4761977 JHDM1D c.1541T>G p.L514R Substitution - Missense Stomach COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1315850 EZH2 c.305A>G p.N102S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM76386 SETD2 c.3587C>T p.A1196V Substitution - Missense Ovary COSM4605586 KMT2C c.5430G>T p.L1810F Substitution - Missense Upper_aerodigestive_tract COSM5892501 PHF16 c.1342C>T p.P448S Substitution - Missense Skin COSM4885892 BAHCC1 c.4347G>T p.R1449R Substitution - coding silent Upper_aerodigestive_tract COSM5623942 TCF20 c.1180G>T p.E394* Substitution - Nonsense Oesophagus COSM5143474 SP140 c.463A>G p.R155G Substitution - Missense Large_intestine COSM5074387 TCF20 c.364delC p.Q122fs*62 Deletion - Frameshift Breast COSM937177 EP400 c.6563C>T p.T2188M Substitution - Missense Endometrium COSM700632 MGA c.7980A>G p.L2660L Substitution - coding silent Lung COSM1197630 TRRAP c.3621G>C p.K1207N Substitution - Missense Lung COSM5361588 TDG c.1070G>A p.G357D Substitution - Missense Large_intestine COSM5388050 ASXL3 c.2548G>A p.E850K Substitution - Missense Skin COSM4838451 PHF23 c.64C>A p.Q22K Substitution - Missense Cervix COSM908382 PRDM16 c.3038G>A p.C1013Y Substitution - Missense Endometrium COSM1240158 SETD5_ENST00000402198 c.3335C>T p.A1112V Substitution - Missense Liver COSM53031 EZH2 c.965A>G p.N322S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3563131 TAF1 c.89C>T p.S30F Substitution - Missense Skin COSM3203546 MECOM c.2468C>T p.S823L Substitution - Missense Prostate COSM5785901 SRCAP c.898G>T p.E300* Substitution - Nonsense Breast COSM107979 SMYD1 c.898G>A p.E300K Substitution - Missense Skin COSM4493666 SRCAP c.4198C>T p.P1400S Substitution - Missense Skin COSM1361961 KMT2D c.14735delG p.G4912fs*61 Deletion - Frameshift Large_intestine COSM1490574 FMR1 c.175A>C p.I59L Substitution - Missense Breast COSM1230117 TP53BP1 c.5867G>T p.R1956I Substitution - Missense Large_intestine COSM301320 SUZ12 c.856C>T p.R286* Substitution - Nonsense Central_nervous_system COSM1069067 C5orf35 c.838G>A p.A280T Substitution - Missense Endometrium COSM4617129 POGZ c.2457A>G p.S819S Substitution - coding silent Large_intestine COSM908615 ZMYM6 c.1990G>T p.D664Y Substitution - Missense Endometrium COSM5023971 BPTF c.3539C>T p.P1180L Substitution - Missense Bone COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3871163 ATF7IP c.647C>T p.P216L Substitution - Missense Skin COSM4805301 SMYD5 c.82C>T p.P28S Substitution - Missense Liver COSM3777256 JARID2 c.2997G>C p.R999S Substitution - Missense Urinary_tract COSM3758010 SP110 c.1568T>C p.M523T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5752104 EZH2 c.637_638insA p.R213fs*9 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5579059 NCOA6 c.3542C>T p.P1181L Substitution - Missense Skin COSM4428241 AIRE c.1214C>T p.P405L Substitution - Missense Oesophagus COSM5755559 DNMT3B c.427A>G p.T143A Substitution - Missense Large_intestine COSM3097041 ATRX c.4744_4745insA p.T1582fs*19 Insertion - Frameshift Adrenal_gland COSM377795 HCFC1 c.4121C>T p.A1374V Substitution - Missense Lung COSM5647241 BMI1 c.167G>C p.C56S Substitution - Missense Oesophagus COSM4104945 BRD1 c.500A>T p.E167V Substitution - Missense Stomach COSM384773 SMARCA4 c.4635G>T p.L1545L Substitution - coding silent Lung COSM1027540 NCOA3 c.1616C>T p.S539F Substitution - Missense Endometrium COSM1673965 EYA1 c.981G>A p.W327* Substitution - Nonsense Large_intestine COSM5463561 TDRD6 c.814G>A p.V272I Substitution - Missense Large_intestine COSM1027962 ADNP c.3187G>C p.E1063Q Substitution - Missense Endometrium COSM3509564 CREBBP c.1846C>T p.P616S Substitution - Missense Skin COSM3656848 TAF1L c.2974A>T p.T992S Substitution - Missense Skin COSM2157502 MTA2 c.785G>A p.R262Q Substitution - Missense Central_nervous_system COSM4097605 DNMT3B c.1726C>T p.R576* Substitution - Nonsense Skin COSM96347 ASXL1 c.? p.G646fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM4614352 PHF1 c.715delG p.G240fs*137 Deletion - Frameshift Large_intestine COSM5944492 TET2 c.1171_1172insT p.S391fs*52 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3637069 HDAC9 c.2135G>A p.G712E Substitution - Missense Skin COSM1966235 TAF3 c.426G>A p.Q142Q Substitution - coding silent Large_intestine COSM1023545 SMYD1 c.24C>T p.N8N Substitution - coding silent Endometrium COSM1682573 PHF16 c.1435C>A p.L479M Substitution - Missense Large_intestine COSM5609363 MEN1 c.1806C>T p.F602F Substitution - coding silent Skin COSM3021854 JARID2 c.2674C>A p.L892I Substitution - Missense Large_intestine COSM87002 DNMT3A c.1627G>T p.G543C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4493600 BAZ2A_ENST00000379441 c.4184C>T p.P1395L Substitution - Missense Skin COSM5944414 EP300 c.6567_6571delGCAAC p.M2189fs*19 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4820363 PRDM11 c.1011G>A p.L337L Substitution - coding silent Cervix COSM717301 BAZ2B c.673A>G p.R225G Substitution - Missense Lung COSM1471427 BRWD1 c.412G>A p.E138K Substitution - Missense Prostate COSM5075572 PBRM1 c.2551G>A p.A851T Substitution - Missense Kidney COSM1290380 MGA c.4227delT p.E1410fs*31 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1623982 ASH2L c.300C>A p.G100G Substitution - coding silent Liver COSM1442452 HDGFL1 c.372C>T p.G124G Substitution - coding silent Large_intestine COSM3909805 SP140_ENST00000392045 c.1038C>T p.S346S Substitution - coding silent Skin COSM5413488 TRRAP c.3588A>C p.G1196G Substitution - coding silent Skin COSM990753 SMARCA4 c.3315G>T p.M1105I Substitution - Missense Endometrium COSM4429281 PRDM9 c.643A>T p.S215C Substitution - Missense Oesophagus COSM1581942 WHSC1 c.4046A>T p.K1349M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4570790 HDAC9 c.194T>C p.I65T Substitution - Missense Skin COSM5832894 RTF1 c.1429delA p.T477fs*19 Deletion - Frameshift Breast COSM5970604 EP400 c.9201A>G p.K3067K Substitution - coding silent Upper_aerodigestive_tract COSM3735045 TET2 c.4599_4600delGC p.Q1534fs*43 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM283257 NIPBL c.2500C>T p.R834* Substitution - Nonsense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM255184 PHF6 c.673C>T p.R225* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1267359 TAF1L c.1803C>T p.G601G Substitution - coding silent Stomach COSM1673701 KMT2C c.10768A>C p.I3590L Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM961979 TP53BP1 c.1970_1972delAGG p.E657delE Deletion - In frame Endometrium COSM5730584 RBBP7 c.670G>A p.G224S Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3923196 KMT2C c.7394C>T p.P2465L Substitution - Missense Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM88748 CREBBP c.4337G>A p.R1446H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4403784 KDM4D c.1401C>T p.L467L Substitution - coding silent Skin COSM108842 KDM3A c.1000C>T p.P334S Substitution - Missense Skin COSM238353 TRRAP c.8610C>T p.R2870R Substitution - coding silent Prostate COSM1577229 MEN1 c.539A>T p.D180V Substitution - Missense Parathyroid COSM3356828 CREBBP c.4463C>T p.P1488L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM937509 ATF7IP c.2711G>A p.R904Q Substitution - Missense Endometrium COSM25442 BAZ1A c.491G>A p.S164N Substitution - Missense Skin COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM3729301 NIPBL c.1592C>T p.T531M Substitution - Missense Stomach COSM703445 FTO c.953G>T p.S318I Substitution - Missense Lung COSM4031017 ARID1A c.4381C>T p.R1461* Substitution - Nonsense Pancreas COSM4665068 BAHD1 c.2080C>A p.R694R Substitution - coding silent Large_intestine COSM51241 ARID1A c.883_884insC p.L295fs*105 Insertion - Frameshift Ovary COSM4070285 KDM6B c.1265C>T p.A422V Substitution - Missense Stomach COSM4120706 MINA c.313T>C p.C105R Substitution - Missense Stomach COSM3817643 JMJD5 c.430A>G p.I144V Substitution - Missense Breast COSM5759578 DAXX c.489C>A p.H163Q Substitution - Missense Bone COSM4799788 NCOA6 c.2931A>G p.P977P Substitution - coding silent Liver COSM1051862 PRMT10 c.417G>T p.E139D Substitution - Missense Endometrium COSM3660178 MBD4 c.1018A>G p.K340E Substitution - Missense Liver COSM1478998 CTCF c.683T>C p.F228S Substitution - Missense Breast COSM5731002 KMT2D c.12731delC p.A4244fs*5 Deletion - Frameshift Breast COSM2853518 PHF7 c.652C>T p.L218L Substitution - coding silent Large_intestine COSM2076867 PRDM16 c.109G>A p.E37K Substitution - Missense Cervix COSM4590338 SIRT6 c.671A>C p.N224T Substitution - Missense Upper_aerodigestive_tract COSM1479305 RAI1 c.837_838delGC p.Q280fs*108 Deletion - Frameshift Thyroid COSM1081858 PHIP c.3406A>G p.S1136G Substitution - Missense Endometrium COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Biliary_tract COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13383 MSH6 c.944C>T p.S315F Substitution - Missense Urinary_tract COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM22860 RBBP5 c.1513delA p.D507fs*22 Deletion - Frameshift Lung COSM82381 SMYD2 c.408A>G p.S136S Substitution - coding silent Ovary COSM75542 KAT6B c.4118A>G p.E1373G Substitution - Missense Ovary COSM94117 TET1 c.5656G>C p.G1886R Substitution - Missense Lung COSM122927 EZH2 c.1613C>T p.S538L Substitution - Missense Skin COSM126560 ASH1L c.4660G>T p.E1554* Substitution - Nonsense Upper_aerodigestive_tract COSM126878 PRDM11 c.196C>T p.R66* Substitution - Nonsense Upper_aerodigestive_tract COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Skin COSM148892 KDM3A c.1560C>T p.L520L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM215752 SMARCA4 c.3694G>A p.G1232S Substitution - Missense Stomach COSM312114 KDM4B c.60A>T p.P20P Substitution - coding silent Soft_tissue COSM303249 SMARCC2 c.1833+1G>C p.? Unknown Central_nervous_system COSM316704 ZMYM4 c.3835A>C p.T1279P Substitution - Missense Soft_tissue COSM334955 PHF2 c.2700C>T p.D900D Substitution - coding silent Stomach COSM369111 ORC1 c.400C>T p.R134W Substitution - Missense Lung COSM384241 EED c.288G>T p.L96F Substitution - Missense Lung COSM397464 MPHOSPH8 c.1657G>C p.D553H Substitution - Missense Lung COSM398616 PHF3 c.177A>T p.A59A Substitution - coding silent Lung COSM421886 BAZ1B c.3468C>T p.I1156I Substitution - coding silent Urinary_tract COSM474435 DOT1L c.829T>C p.F277L Substitution - Missense Kidney COSM694497 SMARCC2 c.1889G>A p.R630H Substitution - Missense Lung COSM942084 MBD6 c.1201C>A p.L401I Substitution - Missense Endometrium COSM939965 KMT2D c.15581C>T p.T5194M Substitution - Missense Endometrium COSM1026051 NCOA6 c.5888G>A p.S1963N Substitution - Missense Endometrium COSM1012900 ASXL1 c.1900A>T p.R634* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1026703 ACTR5 c.690C>T p.Y230Y Substitution - coding silent Skin COSM1026861 CHD6 c.4622G>A p.R1541H Substitution - Missense Endometrium COSM758307 BRWD3 c.3502G>A p.V1168I Substitution - Missense Lung COSM744994 EZH2 c.1667C>G p.S556* Substitution - Nonsense Lung COSM706276 EZH1 c.1434C>A p.I478I Substitution - coding silent Lung COSM710749 DOT1L c.2462G>C p.G821A Substitution - Missense Lung COSM908301 HDAC1 c.1397_1399delAGG p.E468delE Deletion - In frame Large_intestine COSM926752 RAG2 c.1163C>T p.A388V Substitution - Missense Endometrium COSM1075343 ARID1B c.186G>A p.Q62Q Substitution - coding silent Endometrium COSM1118571 RBBP7 c.367G>A p.E123K Substitution - Missense Endometrium COSM1125430 ATRX c.4640A>G p.E1547G Substitution - Missense Endometrium COSM1114828 SMARCA1 c.2T>C p.M1T Substitution - Missense Endometrium COSM1088163 HDAC9 c.1225C>T p.R409* Substitution - Nonsense Large_intestine COSM1099915 MYST3 c.4660G>T p.G1554C Substitution - Missense Endometrium COSM1079891 TDRD6 c.2434A>G p.T812A Substitution - Missense Endometrium COSM1243529 PRDM16 c.2394C>T p.G798G Substitution - coding silent Oesophagus COSM1245448 ARID1A c.4909C>A p.R1637R Substitution - coding silent Stomach COSM1163334 ACTL6A c.246G>A p.M82I Substitution - Missense Pancreas COSM1257903 MPHOSPH8 c.1534C>T p.Q512* Substitution - Nonsense Stomach COSM1169564 KDM5C c.1894C>T p.H632Y Substitution - Missense Kidney COSM1215178 KMT2A c.11626G>A p.D3876N Substitution - Missense Large_intestine COSM1406124 SP100 c.10delG p.G5fs*4 Deletion - Frameshift Large_intestine COSM1427200 SETD7 c.460G>A p.A154T Substitution - Missense Large_intestine COSM1432773 LMNB1 c.540_541insA p.Q183fs*5 Insertion - Frameshift Large_intestine COSM1461795 SMARCA2 c.4132C>T p.P1378S Substitution - Missense Large_intestine COSM1363776 CHD4 c.417G>T p.E139D Substitution - Missense Prostate COSM1347450 ZMYND11 c.683G>A p.R228H Substitution - Missense Large_intestine COSM1511176 EP400 c.7527G>C p.P2509P Substitution - coding silent Soft_tissue COSM1566018 PRMT2 c.1138C>T p.P380S Substitution - Missense Large_intestine COSM1608353 MGA c.57A>G p.G19G Substitution - coding silent Liver COSM1483708 EYA2 c.645T>C p.S215S Substitution - coding silent Breast COSM1675426 BTAF1 c.5215C>T p.R1739W Substitution - Missense Large_intestine COSM1698021 EYA4 c.1236G>A p.M412I Substitution - Missense Skin COSM1710679 BPTF c.6637C>T p.P2213S Substitution - Missense Skin COSM1945457 PRDM4 c.1453A>G p.N485D Substitution - Missense Large_intestine COSM1732380 JMJD1C c.4527A>C p.L1509F Substitution - Missense Soft_tissue COSM2260277 MTF2 c.1095T>A p.P365P Substitution - coding silent Upper_aerodigestive_tract COSM2894204 ATF2 c.1332G>A p.P444P Substitution - coding silent Stomach COSM3108670 JMJD5 c.1105G>T p.D369Y Substitution - Missense Skin COSM3139994 BRD9 c.1487C>T p.A496V Substitution - Missense Soft_tissue COSM3237281 KDM3B c.1041C>T p.V347V Substitution - coding silent Upper_aerodigestive_tract COSM3359628 EP400 c.4463T>C p.F1488S Substitution - Missense Kidney COSM3361799 CHD9 c.7683T>A p.R2561R Substitution - coding silent Kidney COSM3376151 KDM2B c.72G>C p.Q24H Substitution - Missense Pancreas COSM3376183 EP400 c.5065G>A p.G1689R Substitution - Missense Pancreas COSM3383986 HCFC2 c.151G>A p.V51I Substitution - Missense Pancreas COSM3488863 ZMYM6 c.475T>C p.S159P Substitution - Missense Skin COSM3463515 BAZ2A c.5784C>T p.S1928S Substitution - coding silent Skin COSM3636982 HDAC9 c.508C>T p.H170Y Substitution - Missense Skin COSM3637071 HDAC9 c.2467G>A p.D823N Substitution - Missense Skin COSM3631933 PHF14 c.2582A>G p.K861R Substitution - Missense Skin COSM3627970 TDRD6 c.6072G>A p.L2024L Substitution - coding silent Skin COSM3512604 CDYL2 c.1203C>T p.I401I Substitution - coding silent Skin COSM3758572 CHD6 c.6852G>A p.T2284T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3768591 TRRAP c.6545G>A p.C2182Y Substitution - Missense Liver COSM3772780 MPHOSPH8 c.1714G>C p.D572H Substitution - Missense Pancreas COSM3850186 PHF15 c.1856C>T p.T619M Substitution - Missense Stomach COSM3854565 PRDM9 c.552A>T p.R184R Substitution - coding silent Stomach COSM3932766 KDM6B c.704C>G p.S235C Substitution - Missense Urinary_tract COSM3941259 NSD1 c.7003C>G p.P2335A Substitution - Missense Oesophagus COSM3837131 BAZ2B c.2740C>T p.R914W Substitution - Missense Breast COSM3911101 DNMT3B c.2333C>T p.S778L Substitution - Missense Skin COSM3890612 CHD3 c.2397C>T p.N799N Substitution - coding silent Skin COSM3901380 EYA1 c.784C>T p.P262S Substitution - Missense Stomach COSM3948586 CHD9 c.6540C>T p.S2180S Substitution - coding silent Ovary COSM4023042 ASH1L c.6553G>C p.E2185Q Substitution - Missense Stomach COSM4000419 CXXC1 c.910C>T p.L304L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3987104 MBD6 c.2954C>T p.P985L Substitution - Missense Kidney COSM4000811 UHRF1 c.31G>T p.A11S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4383542 DNMT3A c.2195T>C p.F732S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4389818 SP140 c.67G>A p.A23T Substitution - Missense Pancreas COSM4605410 NCOR1 c.4572C>T p.T1524T Substitution - coding silent Upper_aerodigestive_tract COSM4419702 NSD1 c.1482C>T p.C494C Substitution - coding silent Soft_tissue COSM4415207 BAZ2A c.52A>G p.R18G Substitution - Missense Large_intestine COSM4568705 KMT2C c.12829T>A p.F4277I Substitution - Missense Skin COSM4544795 CREBBP c.3645G>A p.G1215G Substitution - coding silent Skin COSM4465348 SMARCA5 c.1379C>T p.P460L Substitution - Missense Skin COSM4423522 WHSC1L1 c.1052C>G p.S351C Substitution - Missense Central_nervous_system COSM4719997 RAD54L c.1233C>T p.V411V Substitution - coding silent Breast COSM4666202 BRPF3 c.3428G>A p.R1143H Substitution - Missense Large_intestine COSM4725214 SETDB2 c.604G>A p.V202M Substitution - Missense Large_intestine COSM4659087 ACTA1 c.690G>A p.A230A Substitution - coding silent Large_intestine COSM4663240 ARID1B c.1481C>A p.P494H Substitution - Missense Large_intestine COSM4629005 RBBP7 c.764A>G p.D255G Substitution - Missense Large_intestine COSM4612057 CHD9 c.7287_7288insA p.R2432fs*12 Insertion - Frameshift Large_intestine COSM4889722 ATRX c.5653C>A p.H1885N Substitution - Missense Upper_aerodigestive_tract COSM4919922 CTCF c.161T>C p.V54A Substitution - Missense Liver COSM4910426 BAZ2A c.5246T>C p.V1749A Substitution - Missense Liver COSM4832772 NIPBL c.1998C>T p.S666S Substitution - coding silent Cervix COSM4844121 HDAC7 c.2650C>T p.L884L Substitution - coding silent Cervix COSM4844707 CHD4 c.5016G>A p.V1672V Substitution - coding silent Cervix COSM4839559 KIAA2026_ENST00000399933 c.4888A>C p.N1630H Substitution - Missense Cervix COSM4952542 NSD1 c.6044A>G p.Y2015C Substitution - Missense Liver COSM4964354 CDYL2 c.1516G>A p.V506I Substitution - Missense Pancreas COSM4963830 SETD2 c.5476C>T p.Q1826* Substitution - Nonsense Pancreas COSM5054840 SRCAP c.7073A>G p.Q2358R Substitution - Missense Stomach COSM5051644 KMT2D c.2620G>T p.E874* Substitution - Nonsense Stomach COSM5075214 CDYL c.159C>T p.S53S Substitution - coding silent Large_intestine COSM5402195 KDM3B c.4887C>T p.L1629L Substitution - coding silent Skin COSM5496331 PRDM9 c.727C>T p.P243S Substitution - Missense Biliary_tract COSM5511015 SMARCA4 c.318delG p.P109fs*194 Deletion - Frameshift Biliary_tract COSM5493759 DOT1L c.3257G>A p.R1086H Substitution - Missense Biliary_tract COSM5506896 EZH2 c.99A>G p.R33R Substitution - coding silent Biliary_tract COSM5451403 PHF13 c.601G>A p.V201I Substitution - Missense Large_intestine COSM5428967 KMT2C c.237G>T p.T79T Substitution - coding silent Oesophagus COSM5455452 SHPRH c.4867C>T p.H1623Y Substitution - Missense Large_intestine COSM5638998 BAZ2B c.2455G>C p.D819H Substitution - Missense Oesophagus COSM5627492 ASXL3 c.633G>A p.M211I Substitution - Missense Oesophagus COSM5719320 PRMT6 c.931G>A p.D311N Substitution - Missense Skin COSM5607055 SND1 c.2198G>A p.G733E Substitution - Missense Skin COSM5613754 POGZ c.1558G>C p.D520H Substitution - Missense Lung COSM5556120 PHF15 c.262G>T p.G88C Substitution - Missense Prostate COSM5795401 BAHCC1 c.2340C>T p.R780R Substitution - coding silent Breast COSM5792983 ACTR8 c.174A>G p.L58L Substitution - coding silent Breast COSM5794302 ARID2 c.1115T>C p.M372T Substitution - Missense Breast COSM5792545 L3MBTL3 c.741G>A p.P247P Substitution - coding silent Breast COSM5835362 KMT2C c.6988_6989insTT p.S2330fs*36 Insertion - Frameshift Breast COSM5921307 ASXL3 c.244G>A p.G82R Substitution - Missense Skin COSM5909820 CHD6 c.7106C>T p.S2369F Substitution - Missense Skin COSM5937794 DOT1L c.2729C>T p.P910L Substitution - Missense Skin COSM5980139 KDM2A c.2212C>T p.R738W Substitution - Missense Upper_aerodigestive_tract COSM6001498 BAHD1 c.813C>A p.G271G Substitution - coding silent Prostate COSM6003185 SMCHD1 c.3870G>A p.A1290A Substitution - coding silent Prostate COSM5985331 ARID2 c.4565C>G p.T1522S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6012729 BAZ1B c.399G>T p.K133N Substitution - Missense Skin COSM41901 TET2 c.? p.R1216* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM132971 ASXL1 c.? p.T1018fs*8 Frameshift Haematopoietic_and_lymphoid_tissue COSM43117 TET2 c.1_6009del6009 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM110815 DNMT3A c.? p.V716F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM115817 PHF8 c.1732A>G p.T578A Substitution - Missense Ovary COSM4714047 PHIP c.3264G>A p.Q1088Q Substitution - coding silent Large_intestine COSM5724547 UTY c.1503C>A p.S501R Substitution - Missense Skin COSM4964740 CXXC1 c.1575-6C>T p.? Unknown Pancreas COSM4571004 PRMT5 c.364T>A p.F122I Substitution - Missense Skin COSM3932332 SETD1A c.4352T>G p.L1451R Substitution - Missense Urinary_tract COSM3598856 TET2 c.1463A>G p.N488S Substitution - Missense Skin COSM1429090 WHSC1 c.1422G>T p.E474D Substitution - Missense Large_intestine COSM1187263 PHF14 c.437C>A p.A146D Substitution - Missense Lung COSM4185855 SETD2 c.3275A>T p.E1092V Substitution - Missense Kidney COSM36248 IDH1 c.? p.R132? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4538887 BAZ2B c.2614G>C p.V872L Substitution - Missense Skin COSM2230157 PRDM2 c.4459_4460delAA p.K1489fs*6 Deletion - Frameshift Skin COSM3700656 KDM1A c.1932A>T p.A644A Substitution - coding silent Liver COSM23305 HDAC2 c.1225C>T p.R409* Substitution - Nonsense Endometrium COSM1288111 SND1 c.1181A>G p.Y394C Substitution - Missense Autonomic_ganglia COSM430521 HNF1A c.51C>G p.L17L Substitution - coding silent Liver COSM4635494 KMT2C c.5636C>T p.P1879L Substitution - Missense Large_intestine COSM87192 TET2 c.5885C>T p.P1962L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1128024 JMJD1C c.6894G>C p.E2298D Substitution - Missense Prostate COSM254546 ARID1A c.3743C>A p.S1248* Substitution - Nonsense Urinary_tract COSM3931754 PHC1 c.1749G>A p.Q583Q Substitution - coding silent Urinary_tract COSM392036 MLL5 c.571_572insT p.A191fs*3 Insertion - Frameshift Lung COSM4643748 MBD6 c.2526C>T p.D842D Substitution - coding silent Liver COSM750467 WHSC1L1 c.1126G>A p.E376K Substitution - Missense Lung COSM740278 ARID1B c.4978G>T p.G1660* Substitution - Nonsense Lung COSM4068941 BPTF c.8444G>A p.R2815H Substitution - Missense Stomach COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM4889484 JMJD1C c.1060G>A p.D354N Substitution - Missense Upper_aerodigestive_tract COSM3493335 BRDT c.1779A>G p.E593E Substitution - coding silent Skin COSM4816454 HDAC11 c.670G>A p.E224K Substitution - Missense Cervix COSM454521 ASH2L c.1849G>A p.E617K Substitution - Missense Breast COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6014485 MEN1 c.1710C>G p.I570M Substitution - Missense Skin COSM4061194 CHD9 c.1517G>T p.R506M Substitution - Missense Stomach COSM4754413 SETD2 c.4104C>A p.D1368E Substitution - Missense Stomach COSM1734428 EZH1 c.1286C>T p.S429L Substitution - Missense Pancreas COSM5879102 EZH2 c.867T>A p.C289* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4913331 HDAC9 c.1281G>A p.L427L Substitution - coding silent Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM1716906 ASXL1 c.4552delG p.G1518fs*23 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2911783 DNMT3A c.1555-2A>G p.? Unknown Liver COSM740720 SHPRH c.3716G>A p.R1239K Substitution - Missense Lung COSM1632262 PHF20 c.401A>C p.K134T Substitution - Missense Liver COSM53049 TET2 c.? p.R1440fs*40 Frameshift Haematopoietic_and_lymphoid_tissue COSM3708428 SMARCA1 c.530-4C>T p.? Unknown Liver COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1226767 SMARCA4 c.1367T>C p.L456P Substitution - Missense Large_intestine COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4705984 NCOR1 c.2179G>A p.E727K Substitution - Missense Large_intestine COSM1328269 BRD8 c.2539G>C p.V847L Substitution - Missense Ovary COSM4422938 SMARCA4 c.1405C>T p.R469W Substitution - Missense Kidney COSM5347204 ARID1A c.?_?del? p.T2138fs*? Deletion - Frameshift Endometrium COSM88789 EP300 c.2461C>T p.Q821* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1748667 MTF2 c.809C>T p.A270V Substitution - Missense Urinary_tract COSM3550719 BRWD1 c.1036C>T p.H346Y Substitution - Missense Skin COSM5455216 BAP1 c.1213G>A p.E405K Substitution - Missense Large_intestine COSM3708738 BRWD3 c.2658T>C p.S886S Substitution - coding silent Liver COSM4807538 KMT2D c.14332C>G p.R4778G Substitution - Missense Pancreas COSM1372828 MGA c.6206_6207delCT p.L2070fs*2 Deletion - Frameshift Large_intestine COSM4930149 RBBP5 c.1249G>A p.G417S Substitution - Missense Liver COSM1665110 ZMYM2 c.415A>G p.I139V Substitution - Missense Kidney COSM3900862 CHD7 c.3346A>G p.K1116E Substitution - Missense Stomach COSM4591233 NCOR1 c.534G>C p.K178N Substitution - Missense Upper_aerodigestive_tract COSM4428841 SP100 c.539C>G p.S180C Substitution - Missense Oesophagus COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4434293 ASXL1 c.1232G>A p.R411H Substitution - Missense Oesophagus COSM250040 ATRX c.2656_2659delGAGA p.E886fs*18 Deletion - Frameshift Central_nervous_system COSM985388 KDM6B c.4695C>A p.G1565G Substitution - coding silent Endometrium COSM1251237 EP400 c.6977G>A p.G2326D Substitution - Missense Stomach COSM1735965 CHD9 c.7440delA p.I2481fs*71 Deletion - Frameshift Central_nervous_system COSM4588562 WDR5 c.80A>G p.K27R Substitution - Missense Bone COSM368083 AP001011.3_ENST00000320876 c.1700A>T p.H567L Substitution - Missense Lung COSM5606329 ASH1L c.155G>A p.R52Q Substitution - Missense Skin COSM4384270 EZH2 c.1770T>G p.C590W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM271414 NCOA1 c.2754T>C p.C918C Substitution - coding silent Large_intestine COSM3996693 PHF2 c.811A>C p.I271L Substitution - Missense Kidney COSM913367 MTF2 c.1039C>T p.R347* Substitution - Nonsense Endometrium COSM1709005 GTF3C1 c.3070C>T p.R1024C Substitution - Missense Skin COSM133048 EZH2 c.179G>A p.W60* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5943886 KDM4A c.315-6delA p.? Unknown Skin COSM3845414 ATRX c.1234G>T p.D412Y Substitution - Missense Breast COSM3891426 DNMT1 c.1262C>T p.P421L Substitution - Missense Skin COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3426488 MSH6 c.3697A>C p.K1233Q Substitution - Missense Large_intestine COSM1349119 KAT6B c.2114A>G p.E705G Substitution - Missense Upper_aerodigestive_tract COSM168321 DNMT3A c.626G>A p.R209H Substitution - Missense Large_intestine COSM2739044 NCOR1 c.1584delA p.E529fs*26 Deletion - Frameshift Breast COSM4750912 ZMYM2 c.2791C>G p.P931A Substitution - Missense Stomach COSM4698229 LMNA c.1785C>T p.A595A Substitution - coding silent Large_intestine COSM5779337 TAF1L c.2808A>C p.E936D Substitution - Missense Breast COSM1583400 SETDB1 c.2193C>T p.C731C Substitution - coding silent Endometrium COSM261790 LMNB1 c.465_466insA p.S158fs*30 Insertion - Frameshift Large_intestine COSM1026842 CHD6 c.7652C>T p.P2551L Substitution - Missense Endometrium COSM140541 KDM1B c.1322G>T p.S441I Substitution - Missense Skin COSM954566 PRMT5 c.1204G>C p.E402Q Substitution - Missense Endometrium COSM3637075 HDAC9 c.2553G>A p.G851G Substitution - coding silent Skin COSM4071711 AP001011.3_ENST00000320876 c.5005C>T p.R1669* Substitution - Nonsense Stomach COSM920701 TAF3 c.1222G>A p.E408K Substitution - Missense Skin COSM1581661 SETD2 c.774G>A p.M258I Substitution - Missense Liver COSM4731003 SUV420H1 c.72C>T p.D24D Substitution - coding silent Large_intestine COSM4996746 PHF3 c.2205T>G p.C735W Substitution - Missense Upper_aerodigestive_tract COSM4766068 DNMT3A c.2390A>C p.N797T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4085354 EPC2 c.572T>C p.I191T Substitution - Missense Stomach COSM4498769 BTAF1 c.5276C>T p.T1759I Substitution - Missense Skin COSM3581880 MSH6 c.2030G>T p.S677I Substitution - Missense Skin COSM3450614 PHRF1 c.1662C>T p.F554F Substitution - coding silent Skin COSM1351647 KMT2A c.6661A>G p.R2221G Substitution - Missense Large_intestine COSM265861 STK31 c.1524G>C p.E508D Substitution - Missense Large_intestine COSM1349265 TAF3 c.2743_2745delAAG p.K917delK Deletion - In frame Large_intestine COSM2188305 TP53BP1 c.3687G>A p.Q1229Q Substitution - coding silent Large_intestine COSM224525 PHF12 c.2987C>T p.P996L Substitution - Missense Skin COSM4728660 SND1 c.1134G>A p.L378L Substitution - coding silent Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5650021 JARID2 c.2669delG p.W890fs*1 Deletion - Frameshift Oesophagus COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1469490 ATRX c.890_892delAGA p.K297delK Deletion - In frame Breast COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3634201 JHDM1D c.1035C>T p.T345T Substitution - coding silent Skin COSM1615689 ZMYND8 c.2638G>A p.V880M Substitution - Missense Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2983338 ZCWPW2 c.798G>A p.T266T Substitution - coding silent Biliary_tract COSM123512 GTF3C1 c.2984T>A p.F995Y Substitution - Missense Upper_aerodigestive_tract COSM975884 NCOR1 c.442G>A p.A148T Substitution - Missense Endometrium COSM36638 TDRD5 c.1482T>C p.D494D Substitution - coding silent Skin COSM41293 IDH1 c.? p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716714 ATRX c.5301_5324del24 p.N1768_E1775delNLLGSIKE Deletion - In frame Central_nervous_system COSM335459 MBD1 c.1151G>T p.R384L Substitution - Missense Lung COSM1289352 EPC1 c.340G>C p.D114H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM207998 MECOM c.1839delA p.G614fs*30 Deletion - Frameshift Large_intestine COSM3832340 KMT2C c.9790G>A p.D3264N Substitution - Missense Breast COSM1312891 KMT2C c.1600G>T p.E534* Substitution - Nonsense Urinary_tract COSM3775270 ACTR8 c.1852G>C p.E618Q Substitution - Missense Urinary_tract COSM4018325 KMT2A c.7966C>T p.R2656* Substitution - Nonsense Stomach COSM1701032 TAF1L c.3772G>A p.E1258K Substitution - Missense Skin COSM87161 TET2 c.4138C>T p.H1380Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM240321 KDM2B c.450G>T p.E150D Substitution - Missense Prostate COSM4452835 SMARCA2 c.2216A>G p.Y739C Substitution - Missense Skin COSM4146853 EP400 c.6646A>C p.T2216P Substitution - Missense Upper_aerodigestive_tract COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3732626 EHMT1 c.398C>T p.T133I Substitution - Missense Stomach COSM5407182 HDAC9 c.2117G>A p.G706D Substitution - Missense Skin COSM3475383 HDGF c.178C>T p.P60S Substitution - Missense Skin COSM4119171 PBRM1 c.348C>T p.F116F Substitution - coding silent Stomach COSM3446223 PRMT3 c.738C>T p.F246F Substitution - coding silent Skin COSM100082 KMT2C c.8390_8390delA p.K2797fs*26 Deletion - Frameshift Large_intestine COSM1009812 ATF2 c.85G>T p.A29S Substitution - Missense Endometrium COSM5941458 ASH1L c.973C>T p.P325S Substitution - Missense Skin COSM147595 TDG c.510G>A p.E170E Substitution - coding silent Central_nervous_system COSM272705 FXR1 c.364delA p.N124fs*14 Deletion - Frameshift Stomach COSM1666632 DNMT3A c.? p.M880V Substitution - Missense Ovary COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4054471 INOC1 c.1645A>G p.K549E Substitution - Missense Stomach COSM4959325 HDAC4 c.285G>A p.R95R Substitution - coding silent Liver COSM5749003 JARID2 c.493+2T>A p.? Unknown Pancreas COSM1368705 MTA1 c.1828G>A p.G610R Substitution - Missense Large_intestine COSM4521651 SUV39H1 c.1122G>A p.M374I Substitution - Missense Skin COSM256035 DNMT3A c.1648G>A p.G550R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3928980 STK31 c.3018T>A p.C1006* Substitution - Nonsense Central_nervous_system COSM3364006 KDM6A c.89C>T p.A30V Substitution - Missense Kidney COSM82018 BAG6 c.903G>A p.T301T Substitution - coding silent Ovary COSM3453559 RSF1 c.1364T>A p.F455Y Substitution - Missense Skin COSM1080964 PHF3 c.4770G>T p.E1590D Substitution - Missense Endometrium COSM5752684 DNMT3A c.2524C>T p.Q842* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM939492 KDM5A c.1052C>T p.A351V Substitution - Missense Endometrium COSM5898219 SFMBT1 c.6C>G p.N2K Substitution - Missense Skin COSM4616495 PHF12 c.1448C>T p.A483V Substitution - Missense Large_intestine COSM1633004 FXR1 c.775A>G p.T259A Substitution - Missense Liver COSM3620514 L3MBTL3 c.186C>T p.T62T Substitution - coding silent Skin COSM4591901 NCOR1 c.618+6T>A p.? Unknown Upper_aerodigestive_tract COSM3138110 PHF15 c.1550G>A p.R517Q Substitution - Missense Upper_aerodigestive_tract COSM255691 BAZ2B c.417A>G p.L139L Substitution - coding silent Central_nervous_system COSM1183887 ATF7IP c.475C>G p.P159A Substitution - Missense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1253885 GTF3C4 c.2446T>C p.F816L Substitution - Missense Oesophagus COSM4487072 SMARCA1 c.3137C>T p.P1046L Substitution - Missense Skin COSM1470013 KDM5D c.4255C>T p.R1419C Substitution - Missense Large_intestine COSM3732281 BPTF c.8056T>C p.S2686P Substitution - Missense Stomach COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM756016 FMR1 c.539G>T p.R180L Substitution - Missense Lung COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM431130 ARID2 c.4022C>G p.S1341* Substitution - Nonsense Breast COSM5351723 EZH2 c.1697G>T p.R566L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1311748 ARID1B c.1650G>T p.P550P Substitution - coding silent Urinary_tract COSM948232 TDRD3 c.1092T>C p.S364S Substitution - coding silent Endometrium COSM3403536 SETBP1 c.1081G>T p.A361S Substitution - Missense Central_nervous_system COSM5595297 SETD1A c.3507C>T p.S1169S Substitution - coding silent Skin COSM5912634 KMT2C c.3239C>T p.P1080L Substitution - Missense Skin COSM1245992 BAZ2A_ENST00000379441 c.4232C>G p.P1411R Substitution - Missense Oesophagus COSM1645140 ZMYM2 c.841A>G p.N281D Substitution - Missense Salivary_gland COSM5931556 TET2 c.2305C>T p.Q769* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4575681 ING4 c.519C>T p.P173P Substitution - coding silent Bone COSM4663928 ATAD2 c.2827A>G p.K943E Substitution - Missense Large_intestine COSM3686368 ATAD2 c.789_797delAGATGATGA p.E263_D265delEDD Deletion - In frame Large_intestine COSM343281 NCOA6 c.2953C>T p.Q985* Substitution - Nonsense Lung COSM3501420 TP53BP1 c.3961C>T p.L1321F Substitution - Missense Skin COSM3463366 SMARCC2 c.3130G>A p.G1044R Substitution - Missense Skin COSM5773426 NCOA7 c.634G>T p.E212* Substitution - Nonsense Breast COSM457984 TAF1 c.1312C>T p.P438S Substitution - Missense Endometrium COSM5505658 ZMYM6 c.1062+6A>G p.? Unknown Biliary_tract COSM1747145 SMARCC2 c.3480G>A p.G1160G Substitution - coding silent Urinary_tract COSM22598 MEN1 c.912+2T>A p.? Unknown Parathyroid COSM5341585 ASH1L c.6543C>G p.N2181K Substitution - Missense Large_intestine COSM3698632 TRRAP c.10064A>C p.N3355T Substitution - Missense Large_intestine COSM920100 SFMBT2 c.656G>A p.R219H Substitution - Missense Large_intestine COSM1308627 HDAC11 c.617G>A p.R206H Substitution - Missense Large_intestine COSM43439 TET2 c.2224C>T p.Q742* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4458134 PRDM4 c.1072C>T p.Q358* Substitution - Nonsense Skin COSM1169580 PBRM1 c.3859G>A p.E1287K Substitution - Missense Kidney COSM1378075 GLYR1 c.1140delG p.R381fs*20 Deletion - Frameshift Large_intestine COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM288897 POGZ c.1700G>A p.W567* Substitution - Nonsense Large_intestine COSM5470148 RBBP4 c.391C>T p.R131C Substitution - Missense Large_intestine COSM2966582 HDAC6 c.384C>T p.C128C Substitution - coding silent Breast COSM3769995 ARID1B c.1472C>T p.S491F Substitution - Missense Soft_tissue COSM1675527 PCGF6 c.565C>T p.R189* Substitution - Nonsense Large_intestine COSM4597383 SMARCC2 c.802C>T p.R268C Substitution - Missense Upper_aerodigestive_tract COSM3779337 EYA1 c.781C>G p.P261A Substitution - Missense Urinary_tract COSM4384161 MLL5 c.4975G>A p.V1659I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM372790 MGA c.4062C>G p.I1354M Substitution - Missense Lung COSM3508906 SRCAP c.5275C>T p.P1759S Substitution - Missense Skin COSM3966769 RERE c.2144T>C p.I715T Substitution - Missense Central_nervous_system COSM53208 ASXL1 c.2415_2415delC p.T806fs*12 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM52965 DNMT3A c.? p.K829R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3493328 BRDT c.1222G>A p.E408K Substitution - Missense Skin COSM1093648 TRRAP c.5829C>G p.V1943V Substitution - coding silent Endometrium COSM691793 SIRT4 c.451A>G p.K151E Substitution - Missense Lung COSM166345 DNMT3A c.? p.? Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1616582 BRD1 c.2927A>T p.E976V Substitution - Missense Liver COSM4494249 SETBP1 c.4299C>T p.I1433I Substitution - coding silent Skin COSM5472733 SMARCA2 c.1305G>A p.Q435Q Substitution - coding silent Large_intestine COSM1614651 NCOA1 c.771G>A p.T257T Substitution - coding silent Liver COSM914319 RNF134 c.361C>T p.R121C Substitution - Missense Endometrium COSM4665207 BAZ1A c.2481G>T p.E827D Substitution - Missense Large_intestine COSM5506597 ARID1A c.2718_2719delCT p.S907fs*28 Deletion - Frameshift Biliary_tract COSM180099 RERE c.306T>C p.D102D Substitution - coding silent Endometrium COSM435539 CTCF c.1873G>T p.E625* Substitution - Nonsense Breast COSM462521 PRMT6 c.46C>A p.L16I Substitution - Missense Kidney COSM894170 TRIM33 c.3233C>T p.T1078I Substitution - Missense Endometrium COSM4400588 VPS72 c.894A>G p.P298P Substitution - coding silent Skin COSM5049210 CREBBP c.573T>A p.S191R Substitution - Missense Oesophagus COSM934227 HCFC2 c.1672G>T p.E558* Substitution - Nonsense Endometrium COSM3408020 KDM3A c.1857G>A p.K619K Substitution - coding silent Central_nervous_system COSM3825268 SMARCA5 c.2105A>C p.N702T Substitution - Missense Breast COSM249800 DNMT3A c.1220T>G p.I407S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM136764 SFMBT2 c.1199G>A p.R400Q Substitution - Missense Skin COSM111693 KAT6B c.3289_3291delGAA p.E1097delE Deletion - In frame Upper_aerodigestive_tract COSM1353172 PRMT3 c.1438T>G p.W480G Substitution - Missense Large_intestine COSM4748624 SMARCA2 c.2078A>T p.Y693F Substitution - Missense Stomach COSM3710951 MBD6 c.2946C>G p.V982V Substitution - coding silent Upper_aerodigestive_tract COSM452815 HDAC9 c.2057G>T p.R686L Substitution - Missense Breast COSM21471 HNF1A c.617G>T p.W206L Substitution - Missense Liver COSM1673701 KMT2C c.10768A>C p.I3590L Substitution - Missense Breast COSM88748 CREBBP c.4337G>A p.R1446H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3977173 ACTA1 c.64G>A p.G22S Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1484828 MECOM c.589T>C p.Y197H Substitution - Missense Breast COSM4759845 TET2 c.1834C>T p.P612S Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM21477 HNF1A c.817A>G p.K273E Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2175825 KDM2B c.2251T>C p.S751P Substitution - Missense Large_intestine COSM5016545 CHD3 c.1968_1986del19 p.L656fs*7 Deletion - Frameshift Kidney COSM371059 CDYL2 c.475G>T p.G159W Substitution - Missense Lung COSM3923308 HDAC9 c.884C>T p.S295L Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3698286 KMT2C c.7163G>A p.R2388H Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM475990 EPC2 c.449G>A p.S150N Substitution - Missense Kidney COSM3821835 DNMT1 c.1527C>A p.S509R Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4894527 MGA c.5752C>T p.Q1918* Substitution - Nonsense Skin COSM216574 HDAC4 c.2110C>T p.R704C Substitution - Missense Pancreas COSM5550933 KMT2A c.4715G>A p.C1572Y Substitution - Missense Prostate COSM3536702 UHRF1 c.902C>T p.P301L Substitution - Missense Skin COSM5695406 CHD7 c.985A>T p.N329Y Substitution - Missense Soft_tissue COSM4767419 BAP1 c.489G>A p.R163R Substitution - coding silent Biliary_tract COSM985414 CBX4 c.507C>T p.Y169Y Substitution - coding silent Endometrium COSM5710764 TRRAP c.2048C>T p.A683V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1625905 KDM6A c.4005+2T>G p.? Unknown Liver COSM5808877 FXR1 c.300C>T p.D100D Substitution - coding silent Liver COSM1137552 PHF3 c.4266A>G p.P1422P Substitution - coding silent Kidney COSM4097971 PHF20 c.1272G>A p.S424S Substitution - coding silent Stomach COSM3660768 SETD5_ENST00000402198 c.362A>T p.H121L Substitution - Missense Liver COSM3473679 POGZ c.2045T>G p.L682W Substitution - Missense Skin COSM1685111 KMT2D c.10047C>A p.L3349L Substitution - coding silent Lung COSM5985126 EP300 c.? p.S1037L Substitution - Missense Salivary_gland COSM140917 ARID1A c.2786C>T p.P929L Substitution - Missense Skin COSM4384874 CREBBP c.485C>T p.A162V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1965087 KAT6B c.1238T>C p.I413T Substitution - Missense Upper_aerodigestive_tract COSM5699585 CHD8 c.3504T>G p.Y1168* Substitution - Nonsense Soft_tissue COSM988365 SETBP1 c.428G>A p.R143H Substitution - Missense Endometrium COSM3636459 KMT2C c.12954C>T p.V4318V Substitution - coding silent Skin COSM240677 KMT2A c.5447_5449delAGC p.Q1816delQ Deletion - In frame Prostate COSM1673582 TIF1 c.2804T>G p.F935C Substitution - Missense Large_intestine COSM5938440 CHD6 c.3058C>T p.P1020S Substitution - Missense Skin COSM3237367 KDM3B c.5136C>T p.H1712H Substitution - coding silent Large_intestine COSM4468825 ATRX c.1565C>T p.S522F Substitution - Missense Skin COSM307363 TET2 c.3058C>T p.Q1020* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM747177 BAZ1B c.3504G>T p.L1168L Substitution - coding silent Lung COSM3656843 TAF1L c.3598C>T p.R1200C Substitution - Missense Skin COSM4390534 SETD1A c.3785C>A p.T1262N Substitution - Missense Urinary_tract COSM2955113 PRDM8 c.557A>C p.D186A Substitution - Missense Large_intestine COSM3914266 BRWD3 c.3412T>G p.W1138G Substitution - Missense Skin COSM34039 IDH2 c.514A>T p.R172W Substitution - Missense Liver COSM21744 SMARCC1 c.1495C>T p.R499C Substitution - Missense Skin COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM107494 TRRAP c.2165C>T p.S722F Substitution - Missense Skin COSM116351 SMYD4 c.2390C>A p.P797H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87187 TET2 c.5665_5670delCCCAAT p.P1889_N1890del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM122020 TDG c.387C>A p.T129T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM132642 SETD5_ENST00000402198 c.1081C>T p.R361* Substitution - Nonsense Central_nervous_system COSM117417 CREBBP c.2650G>A p.A884T Substitution - Missense Ovary COSM139939 PRMT8 c.1037T>C p.L346P Substitution - Missense Skin COSM148423 SETBP1 c.3301G>A p.V1101I Substitution - Missense Soft_tissue COSM211702 TET2 c.3176C>G p.S1059* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Lung COSM255310 SMARCA4 c.2837C>T p.P946L Substitution - Missense Central_nervous_system COSM263788 AP001011.3_ENST00000320876 c.5602C>T p.R1868* Substitution - Nonsense Breast COSM286720 ZMYM1 c.2037C>A p.F679L Substitution - Missense Large_intestine COSM277380 SMARCA5 c.377G>A p.R126Q Substitution - Missense Large_intestine COSM297068 PHF2 c.2961C>A p.T987T Substitution - coding silent Upper_aerodigestive_tract COSM294851 SRCAP c.4210C>T p.P1404S Substitution - Missense Large_intestine COSM311727 HDAC8 c.817C>A p.P273T Substitution - Missense Lung COSM312108 KDM5C c.1074G>C p.L358L Substitution - coding silent Lung COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Upper_aerodigestive_tract COSM323775 TDRD5 c.2632C>A p.L878I Substitution - Missense Lung COSM324357 ZBTB38 c.647G>A p.R216H Substitution - Missense Lung COSM361660 AICDA c.267C>A p.D89E Substitution - Missense Lung COSM368495 RNF134 c.687A>G p.V229V Substitution - coding silent Lung COSM369675 SMARCB1 c.246G>C p.T82T Substitution - coding silent Lung COSM417045 SRCAP c.3994C>A p.R1332R Substitution - coding silent Urinary_tract COSM447434 SMARCA5 c.2707C>T p.Q903* Substitution - Nonsense Breast COSM443225 INO80B c.876G>C p.P292P Substitution - coding silent Soft_tissue COSM460392 PHF12 c.489G>T p.R163S Substitution - Missense Cervix COSM459262 ZMYM1 c.1808G>A p.R603Q Substitution - Missense Large_intestine COSM453256 ACTB c.761G>A p.R254Q Substitution - Missense Breast COSM466802 ALKBH3 c.772C>T p.R258* Substitution - Nonsense Kidney COSM977547 SUZ12 c.504T>C p.N168N Substitution - coding silent Endometrium COSM917040 BMI1 c.837G>A p.V279V Substitution - coding silent Endometrium COSM1026073 NCOA6 c.4211C>A p.S1404Y Substitution - Missense Endometrium COSM1026100 NCOA6 c.1604C>T p.S535L Substitution - Missense Cervix COSM1030949 PRDM15 c.567G>T p.W189C Substitution - Missense Endometrium COSM4385788 TRRAP c.1291C>T p.R431C Substitution - Missense Skin COSM714035 TRIM28 c.341-7C>T p.? Unknown Liver COSM1692144 SP140_ENST00000392045 c.208C>T p.R70C Substitution - Missense Skin COSM720794 NCOA1 c.2304G>T p.L768L Substitution - coding silent Lung COSM907699 ARID1A c.2252-1G>T p.? Unknown Endometrium COSM990466 DNMT1 c.151G>A p.E51K Substitution - Missense Endometrium COSM1009809 ATF2 c.705T>C p.I235I Substitution - coding silent Endometrium COSM969484 CCDC101 c.178C>T p.R60C Substitution - Missense Endometrium COSM1124879 TAF1 c.1772A>G p.H591R Substitution - Missense Endometrium COSM1107744 SMARCA2 c.2927T>G p.I976S Substitution - Missense Endometrium COSM1088147 HDAC9 c.365G>A p.R122H Substitution - Missense Endometrium COSM1093702 TRRAP c.9152G>A p.R3051Q Substitution - Missense Endometrium COSM1166720 MSH6 c.3415G>T p.G1139C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1184901 BRD7 c.286C>T p.R96W Substitution - Missense Stomach COSM1163731 ADNP c.3047delA p.K1016fs*11 Deletion - Frameshift Large_intestine COSM1205380 EP400 c.6851G>A p.R2284H Substitution - Missense Large_intestine COSM1176425 POLE3 c.347C>T p.S116L Substitution - Missense Endometrium COSM1189761 MBD3 c.129C>A p.F43L Substitution - Missense Lung COSM1303650 AP001011.3_ENST00000320876 c.639-2A>G p.? Unknown Urinary_tract COSM1321433 TRDMT1 c.517C>T p.P173S Substitution - Missense Ovary COSM1388970 MBD1 c.1303A>G p.T435A Substitution - Missense Large_intestine COSM1412242 ZMYND8 c.1218C>T p.A406A Substitution - coding silent Large_intestine COSM1431297 PRDM8 c.636G>C p.Q212H Substitution - Missense Large_intestine COSM1453225 TRRAP c.10179G>A p.T3393T Substitution - coding silent Large_intestine COSM1364342 APOBEC1 c.207delA p.K69fs*12 Deletion - Frameshift Large_intestine COSM1495585 SETMAR c.679G>A p.E227K Substitution - Missense Kidney COSM1494194 GATAD2A c.217G>A p.G73S Substitution - Missense Kidney COSM1610986 SIRT7 c.613G>T p.V205L Substitution - Missense Liver COSM1614217 IDH1 c.382A>G p.I128V Substitution - Missense Liver COSM1578514 TDG c.793-1_793ins11 p.L265fs*30 Unknown Meninges COSM1713606 ZMYND8 c.655G>T p.E219* Substitution - Nonsense Skin COSM1720580 STK31 c.902A>G p.K301R Substitution - Missense Skin COSM1746240 PHF21A c.79G>C p.D27H Substitution - Missense Urinary_tract COSM2156322 ARID2 c.4016_4017delAG p.N1340fs*12 Deletion - Frameshift Central_nervous_system COSM2158439 JMJD1C c.4066G>T p.V1356L Substitution - Missense Large_intestine COSM2139728 IDH2 c.1129C>T p.R377C Substitution - Missense Large_intestine COSM2804913 BAHCC1 c.543C>T p.F181F Substitution - coding silent Skin COSM3095841 TAF1 c.4717A>G p.N1573D Substitution - Missense Large_intestine COSM3203708 MECOM c.612C>T p.C204C Substitution - coding silent Upper_aerodigestive_tract COSM3304434 KMT2C c.2523G>A p.R841R Substitution - coding silent Prostate COSM3364881 MSH6 c.2849G>T p.S950I Substitution - Missense Kidney COSM3408715 DHX30 c.1625G>A p.R542H Substitution - Missense Central_nervous_system COSM3399583 TTF2 c.3110C>T p.A1037V Substitution - Missense Central_nervous_system COSM3479297 TDRD5 c.1412C>T p.S471F Substitution - Missense Skin COSM3421184 CDYL2 c.868G>A p.A290T Substitution - Missense Large_intestine COSM3436132 SUV39H2 c.445C>T p.L149F Substitution - Missense Skin COSM3447090 RAG2 c.1260C>T p.C420C Substitution - coding silent Skin COSM3453553 RSF1 c.2892C>T p.A964A Substitution - coding silent Skin COSM3622299 ARID1B c.5890C>T p.H1964Y Substitution - Missense Skin COSM3623164 HDGFL1 c.246C>T p.I82I Substitution - coding silent Skin COSM3581798 CAMKMT c.318T>C p.N106N Substitution - coding silent Skin COSM3580259 DNMT3A c.344C>T p.P115L Substitution - Missense Skin COSM3545289 DNMT3B c.316C>T p.R106* Substitution - Nonsense Skin COSM3522234 ZBTB4 c.615C>T p.P205P Substitution - coding silent Skin COSM3656865 TAF1L c.1464C>A p.P488P Substitution - coding silent Skin COSM3669183 ATXN7 c.1470A>G p.L490L Substitution - coding silent Liver COSM3713024 KDM4B c.1717C>A p.P573T Substitution - Missense Upper_aerodigestive_tract COSM3708518 HCFC1 c.951G>C p.P317P Substitution - coding silent Liver COSM3735913 PRMT6 c.404C>T p.A135V Substitution - Missense Large_intestine COSM3743928 BAZ2B c.6067A>G p.S2023G Substitution - Missense Liver COSM3774452 SMYD3 c.518G>C p.G173A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3785559 L3MBTL2 c.232C>T p.R78C Substitution - Missense Pancreas COSM3940121 ATRX c.3515C>G p.T1172S Substitution - Missense Oesophagus COSM3926599 SMARCA2 c.2975C>T p.S992F Substitution - Missense Skin COSM3916387 PHF7 c.433C>T p.R145C Substitution - Missense Skin COSM3879523 KMT2C c.11511G>A p.L3837L Substitution - coding silent Stomach COSM3874633 CDYL c.1785C>T p.I595I Substitution - coding silent Biliary_tract COSM3969541 SRCAP c.3484C>G p.P1162A Substitution - Missense Central_nervous_system COSM3954830 KMT2D c.13441+1G>A p.? Unknown Lung COSM4031014 ARID1A c.4024C>T p.Q1342* Substitution - Nonsense Stomach COSM4007349 ZMYM4 c.2441C>T p.A814V Substitution - Missense Stomach COSM4035254 MEN1 c.1252G>T p.D418Y Substitution - Missense Stomach COSM4044300 CHD4 c.4628C>T p.P1543L Substitution - Missense Stomach COSM52806 PBRM1 c.646-5T>G p.? Unknown Kidney COSM4593385 ARID2 c.4663G>T p.A1555S Substitution - Missense Upper_aerodigestive_tract COSM4430706 CHD6 c.5571G>A p.L1857L Substitution - coding silent Oesophagus COSM4439097 PHRF1 c.1949G>T p.S650I Substitution - Missense Oesophagus COSM4496872 TCF20 c.484C>G p.P162A Substitution - Missense Skin COSM4567239 BAZ2A_ENST00000379441 c.618_619CC>TT p.Q207* Substitution - Nonsense Skin COSM4521638 TAF1L c.1120G>T p.V374F Substitution - Missense Skin COSM4499522 MLL5 c.5444C>T p.P1815L Substitution - Missense Skin COSM4495416 INOC1 c.4538C>T p.P1513L Substitution - Missense Skin COSM4516309 L3MBTL2 c.1769_1770CC>TT p.P590L Substitution - Missense Skin COSM4546733 SMARCA4 c.4062G>A p.V1354V Substitution - coding silent Skin COSM4769504 BAZ2B c.5007G>C p.L1669F Substitution - Missense Biliary_tract COSM4729936 SRCAP c.3876G>A p.P1292P Substitution - coding silent Large_intestine COSM4701381 MECOM c.2614C>T p.H872Y Substitution - Missense Large_intestine COSM4695845 KIAA2026_ENST00000399933 c.5417C>A p.P1806H Substitution - Missense Large_intestine COSM4702449 KMT2D c.1525T>A p.S509T Substitution - Missense Large_intestine COSM4640926 KDM4C c.2031A>T p.T677T Substitution - coding silent Large_intestine COSM4654404 TDRD7 c.2075G>A p.C692Y Substitution - Missense Large_intestine COSM4775584 KDM1A c.1321C>T p.Q441* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4772621 ZBTB38 c.1227A>C p.L409F Substitution - Missense Stomach COSM4746654 KDM6B c.2167delC p.P724fs*2 Deletion - Frameshift Stomach COSM4806557 PHF8 c.2915C>T p.P972L Substitution - Missense Pancreas COSM4805973 BRWD1 c.2636C>T p.P879L Substitution - Missense Liver COSM4804487 TAF3 c.114G>T p.L38L Substitution - coding silent Liver COSM4808122 GATAD2A c.196-8G>A p.? Unknown Pancreas COSM4843126 EP300 c.1942C>T p.R648* Substitution - Nonsense Cervix COSM4845507 PHF15 c.83C>G p.S28* Substitution - Nonsense Cervix COSM4817061 RERE c.4016C>T p.P1339L Substitution - Missense Cervix COSM4811260 KDM5C c.331G>A p.D111N Substitution - Missense Urinary_tract COSM4962836 BAZ2A_ENST00000379441 c.3374A>G p.Y1125C Substitution - Missense Pancreas COSM4976623 KMT2D c.14648G>A p.R4883Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5051790 BAZ2A_ENST00000379441 c.929T>C p.V310A Substitution - Missense Stomach COSM5060645 KDM3B c.1440G>A p.S480S Substitution - coding silent Stomach COSM5133565 BRD1 c.2666G>A p.R889H Substitution - Missense Large_intestine COSM5038636 KDM6B c.3884_3886delAGA p.K1296delK Deletion - In frame Liver COSM5346990 ARID1A c.3220C>T p.R1074W Substitution - Missense Endometrium COSM5341297 SFMBT2 c.907G>A p.G303R Substitution - Missense Large_intestine COSM5399741 BAP1 c.1798G>A p.E600K Substitution - Missense Skin COSM5367186 TAF1 c.900A>T p.P300P Substitution - coding silent Large_intestine COSM5480334 KDM2B c.289G>A p.G97R Substitution - Missense Large_intestine COSM5432679 INO80C c.454T>C p.Y152H Substitution - Missense Oesophagus COSM5753475 EPC1 c.545G>A p.R182K Substitution - Missense Large_intestine COSM5652447 TDRD6 c.3200T>A p.F1067Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5726661 MSH6 c.3289C>T p.P1097S Substitution - Missense Skin COSM5606947 PRDM15 c.3124C>T p.H1042Y Substitution - Missense Skin COSM5602123 PRDM10 c.3435G>A p.G1145G Substitution - coding silent Skin COSM5657634 PWWP2B c.478G>T p.D160Y Substitution - Missense Soft_tissue COSM5670507 PRDM15 c.518G>T p.R173L Substitution - Missense Soft_tissue COSM5689710 RAG2 c.17T>A p.V6E Substitution - Missense Soft_tissue COSM5708770 SETD2 c.2908T>C p.F970L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5572890 PBRM1 c.2980T>C p.Y994H Substitution - Missense Prostate COSM5611458 BAP1 c.42delC p.F15fs*57 Deletion - Frameshift Pleura COSM5791470 HCFC1 c.3561C>T p.T1187T Substitution - coding silent Breast COSM5787662 KDM5C c.3936C>A p.R1312R Substitution - coding silent Breast COSM5878813 DNMT3A c.1700_1702delTGG p.V567delV Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM5947657 CBX2 c.1594T>G p.Y532D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5979532 CHD7 c.2680A>G p.T894A Substitution - Missense Upper_aerodigestive_tract COSM5974632 MECOM c.1890A>G p.A630A Substitution - coding silent Upper_aerodigestive_tract COSM6000237 HDAC7 c.2816C>T p.P939L Substitution - Missense Prostate COSM6006618 ASH1L c.6406C>T p.H2136Y Substitution - Missense Prostate COSM5977200 SMARCA2 c.666_667insCAGCAGCAG p.Q238_P239insQQQ Insertion - In frame Upper_aerodigestive_tract COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1169701 ASXL1 c.? p.E635fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1685350 EZH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43413 TET2 c.?_?ins? p.?fs Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM53238 TET2 c.? p.Q1138* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM279122 BAZ2A_ENST00000379441 c.4925G>A p.R1642H Substitution - Missense Large_intestine COSM5675045 BRDT c.330G>T p.K110N Substitution - Missense Soft_tissue COSM1583057 DNMT3A c.317C>G p.P106R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4515022 TRRAP c.9864C>T p.S3288S Substitution - coding silent Skin COSM382207 SP140_ENST00000392045 c.618T>C p.G206G Substitution - coding silent Lung COSM313087 MYST3 c.2836C>G p.P946A Substitution - Missense Lung COSM5810655 ATAT1 c.900A>C p.P300P Substitution - coding silent Liver COSM4691742 IDH2 c.1324A>G p.K442E Substitution - Missense Large_intestine COSM2773718 KIAA1045 c.1152C>T p.I384I Substitution - coding silent Large_intestine COSM1756770 EP400 c.9365G>A p.C3122Y Substitution - Missense Urinary_tract COSM1333459 PRDM2 c.4270delA p.N1426fs*3 Deletion - Frameshift Large_intestine COSM5570775 NIPBL c.4923T>G p.V1641V Substitution - coding silent Prostate COSM1645716 CHD4 c.2873T>A p.L958H Substitution - Missense Kidney COSM211643 TET2 c.3782G>A p.R1261H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM963077 PYGO1 c.617C>A p.P206H Substitution - Missense Endometrium COSM5944940 DNMT3A c.1985C>G p.A662G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM332817 ARID1A c.1435C>T p.Q479* Substitution - Nonsense Endometrium COSM1757202 TRRAP c.634-2A>T p.? Unknown Urinary_tract COSM4776070 SMARCA2 c.3605G>T p.G1202V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3841456 C20orf20 c.88G>A p.V30M Substitution - Missense Breast COSM2833212 GLYR1 c.1658A>G p.H553R Substitution - Missense Large_intestine COSM478303 PCNA c.358G>A p.D120N Substitution - Missense Kidney COSM1756575 KDM6A c.884C>G p.S295* Substitution - Nonsense Urinary_tract COSM1606042 PRMT8 c.855G>A p.T285T Substitution - coding silent Liver COSM969252 GTF3C1 c.3901T>C p.L1301L Substitution - coding silent Endometrium COSM5516512 ZMYND11 c.889G>A p.V297M Substitution - Missense Biliary_tract COSM474147 SMARCA4 c.2439-1G>A p.? Unknown Kidney COSM487372 TAF1L c.3145C>T p.R1049C Substitution - Missense Kidney COSM26582 IKZF1 c.1297C>A p.R433S Substitution - Missense Lung COSM3438395 ERCC6 c.21C>T p.P7P Substitution - coding silent Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1441814 ARID1B c.1989delC p.P664fs*10 Deletion - Frameshift Large_intestine COSM3097080 ATRX c.3413G>T p.R1138I Substitution - Missense Large_intestine COSM5552057 ARID1A c.966C>G p.D322E Substitution - Missense Prostate COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1433368 KDM3B c.961C>T p.R321* Substitution - Nonsense Large_intestine COSM3821297 AP001011.3_ENST00000320876 c.3176A>G p.N1059S Substitution - Missense Breast COSM5035339 MEN1 c.994C>T p.R332C Substitution - Missense Oesophagus COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5885279 SMARCA4 c.? p.T894M Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM296120 PRDM9 c.1855C>T p.R619W Substitution - Missense Large_intestine COSM3731429 SMARCC2 c.3128_3129insC p.G1044fs*33 Insertion - Frameshift Large_intestine COSM2141006 CHD2 c.4980C>T p.D1660D Substitution - coding silent Large_intestine COSM5672992 TAF1L c.5467G>C p.G1823R Substitution - Missense Soft_tissue COSM1447872 SND1 c.1937C>T p.A646V Substitution - Missense Large_intestine COSM3394267 PHF3 c.114A>G p.Q38Q Substitution - coding silent Pancreas COSM1125817 BRWD3 c.4314C>T p.I1438I Substitution - coding silent Endometrium COSM3833177 BAZ1B c.784T>G p.L262V Substitution - Missense Breast COSM3435831 PWWP2B c.256C>T p.P86S Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM939982 KMT2D c.14650C>T p.R4884W Substitution - Missense Endometrium COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4070393 CHD3 c.4907G>T p.G1636V Substitution - Missense Stomach COSM361187 SETBP1 c.2790C>T p.H930H Substitution - coding silent Lung COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM145234 CHD2 c.1859A>T p.H620L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM445108 PHF21B c.417C>T p.L139L Substitution - coding silent Breast COSM3786950 HELLS c.2023C>T p.R675* Substitution - Nonsense Large_intestine COSM5009129 KMT2C c.4333C>A p.L1445I Substitution - Missense Large_intestine COSM3794004 SETD3 c.1007G>A p.R336K Substitution - Missense Urinary_tract COSM969914 SRCAP c.423C>T p.C141C Substitution - coding silent Prostate COSM3546348 CHD6 c.7987G>A p.D2663N Substitution - Missense Skin COSM3684020 ARID1B c.2767G>C p.A923P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1101413 NCOA2 c.2599C>A p.Q867K Substitution - Missense Endometrium COSM5932501 TAF1L c.4807G>A p.G1603R Substitution - Missense Skin COSM3253675 BAG6 c.2234T>C p.F745S Substitution - Missense Large_intestine COSM2235541 ARID1A c.5497C>T p.R1833C Substitution - Missense Stomach COSM937169 EP400 c.5752C>T p.Q1918* Substitution - Nonsense Endometrium COSM945398 ING1 c.345G>A p.A115A Substitution - coding silent Endometrium COSM5974405 TCF20 c.203C>T p.A68V Substitution - Missense Upper_aerodigestive_tract COSM255011 KDM6A c.2324C>G p.S775* Substitution - Nonsense Urinary_tract COSM5510140 BAG6 c.1179T>C p.N393N Substitution - coding silent Biliary_tract COSM4591233 NCOR1 c.534G>C p.K178N Substitution - Missense Skin COSM909553 SCMH1 c.496C>T p.R166C Substitution - Missense Endometrium COSM4702434 KMT2D c.5260G>A p.A1754T Substitution - Missense Large_intestine COSM4002744 PBRM1 c.4335A>G p.P1445P Substitution - coding silent Soft_tissue COSM3833997 ATAD2 c.1099G>T p.E367* Substitution - Nonsense Breast COSM1066199 NSD1 c.1001G>A p.R334H Substitution - Missense Endometrium COSM3820853 CBX4 c.191A>G p.E64G Substitution - Missense Breast COSM4070307 CBX2 c.552G>T p.K184N Substitution - Missense Stomach COSM1666644 SMARCA4 c.? p.R1157W Substitution - Missense Ovary COSM3795641 EZH1 c.1383G>T p.G461G Substitution - coding silent Urinary_tract COSM279120 BAZ2A_ENST00000379441 c.5059A>G p.N1687D Substitution - Missense Large_intestine COSM1716773 TET2 c.1912A>G p.M638V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM21288 BRD3 c.71delC p.P24fs*24 Deletion - Frameshift Large_intestine COSM94695 MEN1 c.253A>G p.I85V Substitution - Missense Lung COSM1237697 TDG c.287_288insA p.I98fs*6 Insertion - Frameshift Thyroid COSM1028938 C20orf20 c.600G>A p.K200K Substitution - coding silent Endometrium COSM1084044 PHF14 c.1014G>A p.Q338Q Substitution - coding silent Endometrium COSM5606302 ACTB c.826G>A p.E276K Substitution - Missense Skin COSM1377594 MYST1 c.150G>A p.E50E Substitution - coding silent Large_intestine COSM914364 ASXL1 c.? p.S846fs*21 Frameshift Haematopoietic_and_lymphoid_tissue COSM99741 DNMT3A c.2096G>A p.G699D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1424466 BAP1 c.587G>A p.W196* Substitution - Nonsense Eye COSM3662297 PHF10 c.760G>T p.G254* Substitution - Nonsense Liver COSM1618140 SETD5_ENST00000402198 c.3582G>C p.K1194N Substitution - Missense Liver COSM88090 KMT2D c.15691C>T p.R5231* Substitution - Nonsense Central_nervous_system COSM1469181 ZMYM3 c.2791G>A p.D931N Substitution - Missense Large_intestine COSM137535 SFMBT2 c.1112C>T p.P371L Substitution - Missense Skin COSM1626132 ATRX c.5863delA p.I1955fs*27 Deletion - Frameshift Liver COSM5904355 SFMBT2 c.1621C>T p.P541S Substitution - Missense Skin COSM4479718 EP300 c.2350C>T p.P784S Substitution - Missense Skin COSM1684595 TFPT c.141_142delTG p.S49fs*13 Deletion - Frameshift Large_intestine COSM987925 ASXL3 c.2255G>A p.G752D Substitution - Missense Endometrium COSM307378 ARID2 c.4720G>T p.V1574F Substitution - Missense Kidney COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4574818 RSF1 c.2537C>T p.T846I Substitution - Missense Bone COSM4488952 DIDO1 c.3404C>T p.S1135F Substitution - Missense Skin COSM2171210 KDM4A c.1214T>C p.I405T Substitution - Missense Large_intestine COSM3659721 PHF2 c.2673C>T p.S891S Substitution - coding silent Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM971422 CHD9 c.4069C>T p.R1357* Substitution - Nonsense Endometrium COSM95831 DNMT3B c.813G>A p.E271E Substitution - coding silent Lung COSM3776138 LMNB1 c.316G>A p.E106K Substitution - Missense Urinary_tract COSM1214800 MECOM c.1621G>T p.E541* Substitution - Nonsense Large_intestine COSM444235 ZGPAT c.183C>G p.S61R Substitution - Missense Thyroid COSM4958394 POGZ c.2763C>T p.P921P Substitution - coding silent Liver COSM444470 BRWD1 c.5464T>G p.S1822A Substitution - Missense Breast COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3991781 ADNP c.1021T>A p.Y341N Substitution - Missense Kidney COSM3917831 GABRG1 c.390G>A p.M130I Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1159754 CREBBP c.4492C>T p.R1498* Substitution - Nonsense Stomach COSM4385245 EP300 c.2456G>A p.C819Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM480429 PBRM1 c.814-1G>A p.? Unknown Kidney COSM3705073 LMNA c.672C>T p.T224T Substitution - coding silent Liver COSM1388710 SETBP1 c.1248T>C p.H416H Substitution - coding silent Large_intestine COSM1181036 TRIM24 c.2531_2532insC p.K846fs*30 Insertion - Frameshift Large_intestine COSM1123028 SMC1A c.2538A>G p.E846E Substitution - coding silent Endometrium COSM4390831 CBX5 c.183G>C p.E61D Substitution - Missense Breast COSM4824194 KMT2C c.6481C>T p.Q2161* Substitution - Nonsense Cervix COSM4968813 CHD4 c.3599G>A p.R1200Q Substitution - Missense Central_nervous_system COSM52877 PBRM1 c.1114G>T p.E372* Substitution - Nonsense Kidney COSM1100846 CHD7 c.5632G>A p.D1878N Substitution - Missense Endometrium COSM109835 MECOM c.64C>T p.R22C Substitution - Missense Breast COSM1293264 RAD54L c.1726G>A p.G576R Substitution - Missense Cervix COSM147497 KMT2D c.2015-8C>T p.? Unknown Soft_tissue COSM5360799 KDM4D c.1377A>C p.K459N Substitution - Missense Large_intestine COSM3820855 CHD3 c.1611A>C p.P537P Substitution - coding silent Breast COSM4766102 TET2 c.1169_1169delA p.D390fs*37 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4663230 ARID1A c.4833_4834insA p.M1613fs*35 Insertion - Frameshift Large_intestine COSM139816 SFMBT2 c.1417C>T p.P473S Substitution - Missense Skin COSM253764 KMT2A c.4437C>A p.C1479* Substitution - Nonsense Urinary_tract COSM328564 NIPBL c.423T>A p.N141K Substitution - Missense Kidney COSM2777758 UHRF2 c.874G>T p.G292* Substitution - Nonsense Large_intestine COSM1169653 PBRM1 c.3639_3640insA p.E1214fs*6 Insertion - Frameshift Kidney COSM5878665 DNMT3A c.2207G>T p.R736L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5669285 KMT2D c.15524A>T p.E5175V Substitution - Missense Soft_tissue COSM3377750 GTF3C1 c.2502G>T p.Q834H Substitution - Missense Pancreas COSM2974803 TRIM28 c.2202C>T p.P734P Substitution - coding silent Skin COSM381292 ERCC6 c.727G>T p.G243C Substitution - Missense Lung COSM5719423 TDRD5 c.2007C>T p.F669F Substitution - coding silent Skin COSM4064353 RAI1 c.3450C>A p.T1150T Substitution - coding silent Stomach COSM5425746 SMYD1 c.795G>A p.Q265Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM348680 KMT2D c.11627G>T p.G3876V Substitution - Missense Lung COSM1678378 INOC1 c.887A>C p.K296T Substitution - Missense Large_intestine COSM1559373 HNF1A c.1545G>A p.T515T Substitution - coding silent Soft_tissue COSM5555579 PRDM12 c.138G>A p.G46G Substitution - coding silent Prostate COSM3053494 SMEK2 c.456G>T p.V152V Substitution - coding silent Upper_aerodigestive_tract COSM5944153 DNMT3A c.952C>T p.R318W Substitution - Missense Bone COSM4151565 NCOA2 c.3904C>T p.P1302S Substitution - Missense Skin COSM5704452 ARID2 c.271C>T p.Q91* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3501107 MGA c.5981C>T p.A1994V Substitution - Missense Skin COSM5382058 CHD8 c.3667A>G p.T1223A Substitution - Missense Skin COSM1709709 ZBTB4 c.2480C>T p.S827F Substitution - Missense Skin COSM4396137 PHF23 c.900C>T p.S300S Substitution - coding silent Skin COSM3514746 RAI1 c.1998C>T p.A666A Substitution - coding silent Skin COSM1073493 EYA4 c.1670C>T p.A557V Substitution - Missense Large_intestine COSM326753 TIF1 c.706G>A p.E236K Substitution - Missense Lung COSM1463734 PHF2 c.2459C>T p.A820V Substitution - Missense Large_intestine COSM1334443 TDRD10 c.435A>G p.K145K Substitution - coding silent Large_intestine COSM1965110 KAT6B c.2235A>G p.L745L Substitution - coding silent Large_intestine COSM2966575 HDAC6 c.133C>T p.P45S Substitution - Missense Oesophagus COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5700734 SRCAP c.1094C>T p.P365L Substitution - Missense Soft_tissue COSM219085 ASXL1 c.? p.Q588* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1334447 TDRD10 c.741C>T p.R247R Substitution - coding silent Central_nervous_system COSM1731524 SRCAP c.5766_5785del20 p.L1923fs*45 Deletion - Frameshift Liver COSM5786500 PHC3 c.1133T>C p.V378A Substitution - Missense Breast COSM1078491 BRPF3 c.2778C>T p.R926R Substitution - coding silent Large_intestine COSM3696449 SETD7 c.438T>C p.Y146Y Substitution - coding silent Large_intestine COSM5721820 KMT2A c.11236C>T p.R3746C Substitution - Missense Skin COSM2195893 BAZ1A c.1967A>G p.H656R Substitution - Missense Large_intestine COSM4644532 SETMAR c.219C>T p.P73P Substitution - coding silent Large_intestine COSM4535450 NCOA6 c.2193G>A p.Q731Q Substitution - coding silent Skin COSM3778719 TRRAP c.154G>A p.V52I Substitution - Missense Urinary_tract COSM5730822 SETD2 c.6009A>C p.K2003N Substitution - Missense Breast COSM5445986 RNF134 c.69_70insCCGCCT p.P28_V29insPP Insertion - In frame Thyroid COSM1622254 ING3 c.557-4A>G p.? Unknown Liver COSM5420704 SMARCA4 c.2545C>T p.R849W Substitution - Missense Prostate COSM5593370 TAF1 c.1512C>T p.P504P Substitution - coding silent Skin COSM1025717 ASXL1 c.427C>T p.R143* Substitution - Nonsense Endometrium COSM4387468 EP300 c.4115G>A p.C1372Y Substitution - Missense Oesophagus COSM1605806 EP400 c.97A>C p.N33H Substitution - Missense Liver COSM5600714 TP53BP1 c.3266C>T p.P1089L Substitution - Missense Skin COSM757499 ATRX c.3190G>A p.A1064T Substitution - Missense Lung COSM4929810 SP140 c.24G>A p.G8G Substitution - coding silent Liver COSM3699157 EYA1 c.229C>T p.R77* Substitution - Nonsense Large_intestine COSM894188 TRIM33 c.984G>A p.A328A Substitution - coding silent Large_intestine COSM3375538 KAT6B c.1056A>T p.R352R Substitution - coding silent Pancreas COSM4383875 TET2 c.2809C>G p.H937D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3604088 GABRG1 c.810G>A p.M270I Substitution - Missense Skin COSM24598 SMARCB1 c.711delC p.I237fs*30 Deletion - Frameshift Central_nervous_system COSM4138967 KDM4C c.145-2A>T p.? Unknown Kidney COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Bone COSM331921 ZMYM1 c.2355G>T p.L785F Substitution - Missense Lung COSM1747320 ACTR6 c.23A>G p.N8S Substitution - Missense Urinary_tract COSM252534 HDAC11 c.503G>A p.R168H Substitution - Missense Ovary COSM1235382 BAP1 c.1717_1717delC p.L573fs*3 Deletion - Frameshift Eye COSM3953485 GLYATL1 c.888T>A p.S296S Substitution - coding silent Lung COSM5895072 NCOA5 c.148G>A p.D50N Substitution - Missense Skin COSM125571 PRDM9 c.2273G>A p.R758H Substitution - Missense Prostate COSM3814479 CHD8 c.4106A>T p.D1369V Substitution - Missense Breast COSM4484341 RAG2 c.279C>T p.I93I Substitution - coding silent Skin COSM339949 SRCAP c.181C>G p.P61A Substitution - Missense Lung COSM1644692 JMJD1C c.6860T>C p.V2287A Substitution - Missense Salivary_gland COSM1472509 PRDM2 c.831_832insGAA p.E282_D283insE Insertion - In frame Central_nervous_system COSM3718424 MEN1 c.1025C>T p.A342V Substitution - Missense Upper_aerodigestive_tract COSM3705809 ZMYM4 c.1181A>G p.K394R Substitution - Missense Liver COSM1485270 DHX30 c.665C>G p.S222* Substitution - Nonsense Breast COSM4591023 KMT2C c.871C>T p.L291F Substitution - Missense Upper_aerodigestive_tract COSM99018 TAF1L c.377C>T p.T126M Substitution - Missense Large_intestine COSM3440148 SFMBT2 c.1247C>T p.A416V Substitution - Missense Skin COSM4838415 KDM1B c.1237G>A p.E413K Substitution - Missense Cervix COSM4705949 NCOA3 c.636C>T p.N212N Substitution - coding silent Large_intestine COSM1190836 PRMT3 c.1033delC p.L345fs*24 Deletion - Frameshift Lung COSM1220339 PHF14 c.2612G>A p.C871Y Substitution - Missense Large_intestine COSM37029 EZH2 c.1937A>C p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4621699 PRDM13 c.402G>A p.E134E Substitution - coding silent Skin COSM1715183 ATRX c.965C>T p.S322L Substitution - Missense Skin COSM320132 EP400 c.8156G>A p.R2719K Substitution - Missense Lung COSM1099895 MYST3 c.5474C>T p.S1825F Substitution - Missense Endometrium COSM4412056 RAI1 c.5625C>T p.L1875L Substitution - coding silent Oesophagus COSM1308210 EP300 c.5364C>G p.L1788L Substitution - coding silent Urinary_tract COSM5788484 JHDM1D c.1618G>C p.E540Q Substitution - Missense Breast COSM478638 DNMT3L c.583C>G p.L195V Substitution - Missense Kidney COSM1034546 EP300 c.3684A>C p.K1228N Substitution - Missense Endometrium COSM1238724 DPF2 c.857C>T p.T286M Substitution - Missense Oesophagus COSM2961644 MYST3 c.5919T>C p.H1973H Substitution - coding silent Upper_aerodigestive_tract COSM211613 TET2 c.2626C>T p.Q876* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM133723 DNMT3A c.2255_2257delTCT p.F752del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM1578934 ARID4A c.3231T>G p.D1077E Substitution - Missense Meninges COSM5887370 JMJD1C c.5207C>T p.S1736F Substitution - Missense Skin COSM1749566 SETD1A c.513C>G p.I171M Substitution - Missense Urinary_tract COSM4064152 NCOR1 c.4688A>G p.H1563R Substitution - Missense Stomach COSM5374062 PRDM4 c.614C>A p.S205* Substitution - Nonsense Skin COSM5905799 TDRD7 c.2266C>T p.R756W Substitution - Missense Skin COSM2270811 MGA c.3457C>T p.P1153S Substitution - Missense Large_intestine COSM4732912 TDRD6 c.1094A>G p.E365G Substitution - Missense Large_intestine COSM3441513 BTAF1 c.4903G>A p.E1635K Substitution - Missense Urinary_tract COSM1101418 NCOA2 c.2046G>A p.S682S Substitution - coding silent Endometrium COSM5175348 PHC3 c.488_489insT p.T164fs*12 Insertion - Frameshift Large_intestine COSM480158 SETD2 c.3409T>A p.W1137R Substitution - Missense Kidney COSM5785293 MLL5 c.3844+6T>A p.? Unknown Breast COSM3559663 MECP2 c.1084C>T p.P362S Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3734184 NCOA1 c.1964A>C p.K655T Substitution - Missense Pancreas COSM5423526 SETD2 c.5158delG p.V1720fs*25 Deletion - Frameshift Prostate COSM345306 ING5 c.322G>A p.E108K Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1386348 ZBTB4 c.11delC p.P4fs*4 Deletion - Frameshift Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1474216 RERE c.1313G>A p.W438* Substitution - Nonsense Breast COSM51414 ARID1A c.6018_6020delGCT p.L2007del Deletion - In frame Ovary COSM4070293 KDM6B c.4716C>A p.A1572A Substitution - coding silent Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5347197 ARID1A c.?_?del? p.P2095fs*? Deletion - Frameshift Endometrium COSM1312266 TDRD6 c.748G>A p.V250M Substitution - Missense Urinary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1185372 ARID1A c.2318C>T p.P773L Substitution - Missense Soft_tissue COSM2105339 KMT2A c.947C>T p.S316L Substitution - Missense Skin COSM4140237 SMARCA4 c.3359G>T p.G1120V Substitution - Missense Ovary COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM278971 ARID2 c.940C>T p.R314C Substitution - Missense Skin COSM238915 ATXN7 c.1477G>A p.E493K Substitution - Missense Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4787822 KDM6A c.853C>T p.Q285* Substitution - Nonsense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5385751 NCOR1 c.6074C>T p.S2025F Substitution - Missense Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM972501 CTCF c.1738C>A p.P580T Substitution - Missense Endometrium COSM211721 TET2 c.3812G>C p.C1271S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1611237 SETBP1 c.3702G>T p.L1234L Substitution - coding silent Liver COSM1367547 TDRD3 c.1456C>T p.R486* Substitution - Nonsense Large_intestine COSM1286207 KMT2D c.10348C>A p.Q3450K Substitution - Missense Autonomic_ganglia COSM5945133 EZH2 c.391A>T p.I131F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5879650 ASXL1 c.1827_1828insG p.A611fs*8 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5050310 SFMBT2 c.1318C>A p.L440I Substitution - Missense Stomach COSM4721052 RERE c.1327G>A p.E443K Substitution - Missense Large_intestine COSM3988788 NCOR1 c.4798C>A p.Q1600K Substitution - Missense Kidney COSM708015 ASXL3 c.168G>T p.W56C Substitution - Missense Lung COSM5730218 TDRD7 c.3070delC p.A1025fs*3 Deletion - Frameshift Skin COSM4929817 PBRM1 c.3740C>T p.T1247I Substitution - Missense Liver COSM1242892 STK31 c.668delA p.K225fs*35 Deletion - Frameshift Skin COSM3724217 ZBTB38 c.1243A>G p.I415V Substitution - Missense Upper_aerodigestive_tract COSM1583128 DNMT3A c.2656C>G p.Q886E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4522651 PYGO1 c.1172G>A p.G391D Substitution - Missense Skin COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM214010 BRD8 c.361C>T p.R121W Substitution - Missense Breast COSM5795505 ELP3 c.216G>C p.L72F Substitution - Missense Breast COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Bone COSM3637532 STK31 c.350G>A p.G117E Substitution - Missense Skin COSM940066 KMT2D c.4047C>T p.G1349G Substitution - coding silent Endometrium COSM5993311 TDRKH c.884-1G>A p.? Unknown Prostate COSM1207672 FXR1 c.1513C>T p.R505W Substitution - Missense Stomach COSM1211719 KDM2B c.788G>A p.C263Y Substitution - Missense Oesophagus COSM1710949 L3MBTL4 c.293C>T p.P98L Substitution - Missense Skin COSM5687422 MTA1 c.1127T>C p.V376A Substitution - Missense Soft_tissue COSM3362577 L3MBTL4 c.791C>G p.P264R Substitution - Missense Kidney COSM1183545 ARID1A c.6236G>T p.S2079I Substitution - Missense Large_intestine COSM3688573 RNF17 c.791G>A p.R264Q Substitution - Missense Large_intestine COSM451292 RING1 c.1004A>G p.E335G Substitution - Missense Upper_aerodigestive_tract COSM391893 NCOA7 c.252_253delAA p.K85fs*4 Deletion - Frameshift Lung COSM132968 ASXL1 c.? p.E635fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM4590338 SIRT6 c.671A>C p.N224T Substitution - Missense Upper_aerodigestive_tract COSM5504863 ZMYND11 c.1245C>G p.T415T Substitution - coding silent Biliary_tract COSM1641709 ATF2 c.318delA p.M107fs*3 Deletion - Frameshift Stomach COSM5802930 ASXL1 c.2873C>A p.S958* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1124863 TAF1 c.256G>T p.E86* Substitution - Nonsense Endometrium COSM20589 BRD3 c.1936+1G>A p.? Unknown Stomach COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM21759 ARID1A c.2064C>T p.H688H Substitution - coding silent Skin COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM78296 PHF12 c.985A>G p.M329V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87147 TET2 c.4044+1G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM87074 TET2 c.640_641insT p.S214fs*11 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM96401 ASXL1 c.2083_2084delCA p.Q695fs*22 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM121775 RSF1 c.3474G>A p.Q1158Q Substitution - coding silent Upper_aerodigestive_tract COSM133014 ARID1A c.4972C>T p.R1658W Substitution - Missense Endometrium COSM140605 WHSC1L1 c.1541G>A p.G514E Substitution - Missense Skin COSM287292 GLYR1 c.1140_1141insG p.R381fs*15 Insertion - Frameshift Large_intestine COSM275628 KAT2B c.1873G>T p.E625* Substitution - Nonsense Large_intestine COSM299663 ARID1A c.6469G>A p.D2157N Substitution - Missense Large_intestine COSM299779 SETD5_ENST00000402198 c.1050C>T p.I350I Substitution - coding silent Large_intestine COSM294683 PCGF6 c.281A>C p.E94A Substitution - Missense Large_intestine COSM331021 BPTF c.849G>T p.M283I Substitution - Missense Lung COSM350031 ARID1A c.5987G>A p.G1996D Substitution - Missense Lung COSM394673 SMARCA4 c.1525G>T p.A509S Substitution - Missense Lung COSM459429 BAZ2A c.4024G>T p.E1342* Substitution - Nonsense Cervix COSM983337 BPTF c.5471G>T p.R1824M Substitution - Missense Endometrium COSM693914 ARID2 c.155C>T p.T52I Substitution - Missense Breast COSM675757 ASH1L c.5893G>C p.E1965Q Substitution - Missense Lung COSM2270979 ASXL1 c.2117_2118insA p.H706fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1049134 BRPF1 c.2142C>T p.N714N Substitution - coding silent Prostate COSM940060 KMT2D c.4456C>T p.R1486W Substitution - Missense Endometrium COSM937508 ATF7IP c.2710C>T p.R904* Substitution - Nonsense Cervix COSM713390 PRMT1 c.189C>T p.F63F Substitution - coding silent Lung COSM720292 SP140_ENST00000392045 c.1214C>T p.S405F Substitution - Missense Lung COSM1692496 ZCWPW2 c.902G>A p.G301E Substitution - Missense Skin COSM911677 PHF13 c.628C>T p.R210* Substitution - Nonsense Endometrium COSM930221 MEN1 c.357G>A p.K119K Substitution - coding silent Endometrium COSM912654 RERE c.990C>T p.Y330Y Substitution - coding silent Endometrium COSM895027 PRDM2 c.4919A>C p.K1640T Substitution - Missense Endometrium COSM1602270 ZMYM6 c.1003G>A p.A335T Substitution - Missense Liver COSM1602136 ARID1A c.974delC p.G326fs*37 Deletion - Frameshift Liver COSM1737915 CREBBP c.3689A>C p.Y1230S Substitution - Missense Prostate COSM1122939 KDM5C c.3316G>A p.A1106T Substitution - Missense Endometrium COSM1136792 CHD6 c.2189A>G p.N730S Substitution - Missense Kidney COSM1093666 TRRAP c.7939C>T p.R2647W Substitution - Missense Endometrium COSM1095759 ATAD2 c.2037C>T p.F679F Substitution - coding silent Endometrium COSM1081849 PHIP c.4018C>T p.P1340S Substitution - Missense Endometrium COSM1080941 PHF3 c.406+2T>C p.? Unknown Endometrium COSM1080941 PHF3 c.406+2T>C p.? Unknown Large_intestine COSM1083679 MLL5 c.2726C>T p.S909F Substitution - Missense Endometrium COSM1083686 MLL5 c.3426C>T p.I1142I Substitution - coding silent Endometrium COSM1235283 PHF6 c.978T>G p.C326W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1200632 CDYL c.745G>A p.A249T Substitution - Missense Large_intestine COSM1199733 CBX3 c.195A>C p.E65D Substitution - Missense Large_intestine COSM1187952 JMJD1C c.5376A>C p.E1792D Substitution - Missense Lung COSM1172549 SETBP1 c.4360C>T p.R1454C Substitution - Missense Stomach COSM1299687 BAZ2A c.570C>G p.T190T Substitution - coding silent Urinary_tract COSM1290461 CHD2 c.2507G>C p.R836P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1301877 SRCAP c.739C>T p.L247L Substitution - coding silent Urinary_tract COSM1290508 SRCAP c.9202C>T p.R3068C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1375532 CHD2 c.230C>A p.P77Q Substitution - Missense Large_intestine COSM1383593 HDAC5 c.3132G>A p.V1044V Substitution - coding silent Large_intestine COSM1467018 RBBP7 c.75_77delGAA p.K25delK Deletion - In frame Large_intestine COSM1462011 TAF1L c.1994_1995insA p.A666fs*38 Insertion - Frameshift Large_intestine COSM1358312 TDG c.245_246insA p.S85fs*19 Insertion - Frameshift Large_intestine COSM1563138 SETD1A c.4383C>T p.N1461N Substitution - coding silent Large_intestine COSM1667707 BRDT c.1594C>T p.R532* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1723860 BAG6 c.2222_2223CC>TT p.A741V Substitution - Missense Skin COSM1727928 MBD5 c.4249C>T p.P1417S Substitution - Missense Liver COSM1749520 GTF3C1 c.4286T>A p.L1429H Substitution - Missense Urinary_tract COSM1744787 ZMYM4 c.1631T>C p.I544T Substitution - Missense Biliary_tract COSM1746937 PRMT8 c.558G>T p.W186C Substitution - Missense Urinary_tract COSM1737874 IDH2 c.418C>G p.R140G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2210638 ASH1L c.7597C>T p.R2533C Substitution - Missense Large_intestine COSM2802815 CBX4 c.1587G>A p.S529S Substitution - coding silent Large_intestine COSM2820609 AIRE c.726G>A p.G242G Substitution - coding silent Skin COSM2929514 TFPT c.569G>A p.R190Q Substitution - Missense Large_intestine COSM2995162 CTCF c.1818A>G p.K606K Substitution - coding silent Bone COSM3296311 EPC2 c.2133A>G p.A711A Substitution - coding silent Upper_aerodigestive_tract COSM3362571 L3MBTL4 c.1644G>C p.V548V Substitution - coding silent Kidney COSM3370162 INOC1 c.1537A>G p.I513V Substitution - Missense Thyroid COSM3368532 SUV420H1 c.2232C>G p.S744R Substitution - Missense Thyroid COSM3402636 RAI1 c.925G>A p.A309T Substitution - Missense Upper_aerodigestive_tract COSM3396284 BAHCC1 c.1861C>A p.Q621K Substitution - Missense Prostate COSM3421782 SMARCD2 c.1018G>A p.D340N Substitution - Missense Large_intestine COSM3443951 KMT2A c.2623G>A p.E875K Substitution - Missense Skin COSM3545295 DNMT3B c.420C>T p.F140F Substitution - coding silent Skin COSM3568258 BAZ2B c.3602C>T p.A1201V Substitution - Missense Skin COSM3563143 TAF1 c.1477C>T p.R493W Substitution - Missense Skin COSM3510042 BRD7 c.280C>T p.R94* Substitution - Nonsense Skin COSM3669686 SND1 c.2477G>A p.C826Y Substitution - Missense Liver COSM3670330 SETD2 c.349C>T p.R117* Substitution - Nonsense Prostate COSM3763348 MYST3 c.2982G>A p.P994P Substitution - coding silent Soft_tissue COSM3800073 SMARCB1 c.24G>C p.K8N Substitution - Missense Urinary_tract COSM3942128 KMT2C c.251-2A>T p.? Unknown Oesophagus COSM3907578 KIAA2026_ENST00000399933 c.2630A>C p.K877T Substitution - Missense Stomach COSM3907607 UHRF2 c.2199C>T p.C733C Substitution - coding silent Prostate COSM4016858 HELLS c.1341C>T p.F447F Substitution - coding silent Stomach COSM4031504 RBBP4 c.572G>T p.G191V Substitution - Missense Stomach COSM4042348 KMT2D c.12640C>T p.R4214* Substitution - Nonsense Stomach COSM3993342 SETD5_ENST00000402198 c.3124T>C p.L1042L Substitution - coding silent Kidney COSM4093191 NCOA1 c.145T>A p.L49I Substitution - Missense Stomach COSM4060210 SRCAP c.6977A>G p.E2326G Substitution - Missense Stomach COSM4150402 TET2 c.3822G>C p.Q1274H Substitution - Missense Ovary COSM4162014 KMT2C c.2534G>A p.G845E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4170409 KMT2D c.11491C>T p.Q3831* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4325778 PBRM1 c.996-7T>A p.? Unknown Large_intestine COSM4396299 ASH1L c.6800T>G p.L2267R Substitution - Missense Skin COSM4391032 SUZ12 c.432G>C p.M144I Substitution - Missense Breast COSM4597808 BAZ2A c.3731C>T p.P1244L Substitution - Missense Upper_aerodigestive_tract COSM4603241 KDM6B c.761_762insACCACC p.P264_L265insPP Insertion - In frame Upper_aerodigestive_tract COSM4596520 NCOA7 c.2723A>T p.D908V Substitution - Missense Upper_aerodigestive_tract COSM4490861 NCOA6 c.3700C>T p.P1234S Substitution - Missense Skin COSM4569886 HELLS c.2127T>C p.H709H Substitution - coding silent Skin COSM4592047 AKAP1 c.1597A>C p.T533P Substitution - Missense Upper_aerodigestive_tract COSM4457739 TDRD10 c.1057C>T p.P353S Substitution - Missense Skin COSM4769480 TRIM33 c.3123G>A p.M1041I Substitution - Missense Biliary_tract COSM4770177 PBRM1 c.4576+5_4576+6insGAG p.? Unknown Soft_tissue COSM4765023 SETMAR c.1403_1404insA p.N470fs*5 Insertion - Frameshift Stomach COSM4609688 CHD8 c.1509delG p.K504fs*8 Deletion - Frameshift Adrenal_gland COSM4642492 SETD4 c.360T>C p.A120A Substitution - coding silent Large_intestine COSM4957707 TDRD3 c.1886G>T p.G629V Substitution - Missense Liver COSM4997675 PHIP c.341G>A p.S114N Substitution - Missense Large_intestine COSM5057909 BRD1 c.1487T>G p.L496R Substitution - Missense Stomach COSM5061738 BRPF3 c.1297G>A p.A433T Substitution - Missense Stomach COSM5371136 KAT6B c.5650C>T p.L1884L Substitution - coding silent Skin COSM5419497 BRD3 c.405A>G p.Q135Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5490665 KMT2C c.10216G>A p.E3406K Substitution - Missense Biliary_tract COSM5494289 BRWD3 c.1262T>C p.I421T Substitution - Missense Biliary_tract COSM5487297 ZBTB33 c.85G>T p.G29* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5466659 NCOA7 c.2645C>A p.S882* Substitution - Nonsense Large_intestine COSM5487571 TRIM24 c.2729G>T p.R910L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5427115 KMT2A c.4186G>A p.D1396N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5421315 PHRF1 c.4119G>A p.A1373A Substitution - coding silent Prostate COSM5625760 BAZ1A c.1544C>T p.P515L Substitution - Missense Oesophagus COSM5629840 TFPT c.49G>T p.E17* Substitution - Nonsense Oesophagus COSM5647724 SND1 c.373G>A p.E125K Substitution - Missense Oesophagus COSM5718719 CHD8 c.3358C>T p.P1120S Substitution - Missense Skin COSM5723508 TDRD5 c.2092C>T p.Q698* Substitution - Nonsense Skin COSM5748960 ZMYM3 c.2206C>T p.R736C Substitution - Missense Pancreas COSM5621048 INOC1 c.1267A>G p.T423A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5577677 PRDM2 c.1536C>T p.P512P Substitution - coding silent Skin COSM5574258 CHD6 c.451G>A p.A151T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5795067 CHD1 c.4236G>A p.K1412K Substitution - coding silent Breast COSM5880304 PHF6 c.517A>T p.K173* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5817891 SETD2 c.3211A>T p.T1071S Substitution - Missense Liver COSM5825139 SUV420H1 c.2570G>A p.R857H Substitution - Missense Pancreas COSM5946295 KMT2D c.4009A>T p.K1337* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5929618 TP53BP1 c.1277C>T p.S426F Substitution - Missense Skin COSM5932683 SFMBT2 c.2072G>A p.R691Q Substitution - Missense Skin COSM5967044 METTL21D c.77C>T p.T26I Substitution - Missense Pituitary COSM5989095 HELLS c.560T>C p.L187S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5989658 ASXL1 c.2466delA p.L823fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5968486 SETD2 c.4980C>A p.P1660P Substitution - coding silent Genital_tract COSM6003188 L3MBTL4 c.922C>T p.R308W Substitution - Missense Prostate COSM6016511 RAI1 c.4898C>T p.S1633F Substitution - Missense Skin COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM166348 DNMT3A c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Biliary_tract COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM330641 EZH2 c.? p.F670C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM42048 TET2 c.3312_3312delT p.F1104fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5945701 ATRX c.? p.R418* Substitution - Nonsense Central_nervous_system COSM4648555 HDAC4 c.978G>T p.E326D Substitution - Missense Large_intestine COSM2720112 CHD7 c.5927G>A p.R1976H Substitution - Missense Upper_aerodigestive_tract COSM1732026 PBRM1 c.610A>C p.I204L Substitution - Missense Kidney COSM3510037 BRD7 c.1076C>T p.P359L Substitution - Missense Skin COSM5731031 SETD2 c.4496_4497delCA p.T1499fs*5 Deletion - Frameshift Breast COSM4756035 MBD6 c.1120C>T p.R374* Substitution - Nonsense Stomach COSM485792 TRRAP c.9282A>G p.A3094A Substitution - coding silent Kidney COSM3175967 PHIP c.3707G>A p.R1236Q Substitution - Missense Large_intestine COSM5742887 BAZ2B c.2763_2764insA p.Q922fs*8 Insertion - Frameshift Upper_aerodigestive_tract COSM3785383 DNMT3B c.1804G>A p.V602I Substitution - Missense Stomach COSM4647282 PRDM10 c.2547T>C p.I849I Substitution - coding silent Large_intestine COSM301062 SCML2 c.444A>G p.T148T Substitution - coding silent Large_intestine COSM3511214 PRMT7 c.1665C>T p.F555F Substitution - coding silent Skin COSM3973910 ATRX c.5016G>A p.W1672* Substitution - Nonsense Central_nervous_system COSM5893656 EP400 c.8993G>A p.G2998E Substitution - Missense Skin COSM260147 CLOCK c.662C>A p.S221Y Substitution - Missense Large_intestine COSM3097096 ATRX c.2658_2659delGA p.E886fs*10 Deletion - Frameshift Large_intestine COSM970592 CREBBP c.2708C>A p.P903H Substitution - Missense Endometrium COSM1088804 CBX3 c.93C>T p.V31V Substitution - coding silent Prostate COSM401105 RNF134 c.167G>T p.C56F Substitution - Missense Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41296 IDH2 c.? p.R172W Substitution - Missense Biliary_tract COSM757643 TAF1 c.1954C>G p.Q652E Substitution - Missense Lung COSM927128 PHF21A c.130A>C p.I44L Substitution - Missense Endometrium COSM3747889 PHRF1 c.1703C>A p.P568Q Substitution - Missense Central_nervous_system COSM945767 MPHOSPH8 c.1075G>A p.V359M Substitution - Missense Endometrium COSM4098434 CHD6 c.7711G>A p.D2571N Substitution - Missense Stomach COSM2911783 DNMT3A c.1555-2A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4155925 PRDM13 c.808C>T p.H270Y Substitution - Missense Kidney COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM249685 NCOR1 c.448G>A p.G150R Substitution - Missense Kidney COSM4467178 MECP2 c.1439C>T p.P480L Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4839179 SMEK1 c.202A>C p.T68P Substitution - Missense Cervix COSM1714932 HDAC6 c.2012T>G p.L671R Substitution - Missense Skin COSM723970 NCOA6 c.2065C>A p.P689T Substitution - Missense Lung COSM1488411 KMT2C c.583C>T p.Q195* Substitution - Nonsense Breast COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM4159839 PRDM9 c.2042C>G p.T681S Substitution - Missense Upper_aerodigestive_tract COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3589887 MECOM c.899C>T p.S300F Substitution - Missense Skin COSM2209149 TDRD10 c.709C>G p.Q237E Substitution - Missense Large_intestine COSM1750634 SMARCA4 c.499C>G p.R167G Substitution - Missense Urinary_tract COSM3672358 NCOR1 c.1708C>A p.R570R Substitution - coding silent Prostate COSM422735 BAP1 c.38G>T p.G13V Substitution - Missense Kidney COSM3850366 BRD8 c.3130C>T p.Q1044* Substitution - Nonsense Kidney COSM5967162 SETD2 c.5429C>G p.S1810* Substitution - Nonsense Salivary_gland COSM287478 BRPF3 c.2492A>G p.K831R Substitution - Missense Large_intestine COSM360333 TRRAP c.9843C>A p.L3281L Substitution - coding silent Lung COSM1449452 KMT2C c.3296T>G p.L1099R Substitution - Missense Large_intestine COSM3936739 RTF1 c.1329G>C p.R443R Substitution - coding silent Oesophagus COSM4219256 PRDM2 c.2110G>C p.A704P Substitution - Missense Large_intestine COSM1241128 EPC1 c.619C>A p.P207T Substitution - Missense Oesophagus COSM164470 SMARCC2 c.1411G>C p.D471H Substitution - Missense Breast COSM3386856 INOC1 c.2042G>A p.G681E Substitution - Missense Pancreas COSM1756603 HDAC6 c.2874A>G p.G958G Substitution - coding silent Urinary_tract COSM246561 PHF10 c.331T>G p.Y111D Substitution - Missense Prostate COSM5723957 SMARCA2 c.1898C>T p.S633F Substitution - Missense Skin COSM5723957 SMARCA2 c.1898C>T p.S633F Substitution - Missense Skin COSM5419288 AP001011.3_ENST00000320876 c.5377C>T p.H1793Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM150428 KMT2C c.2958A>G p.P986P Substitution - coding silent Soft_tissue COSM4701408 MECP2 c.135C>T p.P45P Substitution - coding silent Large_intestine COSM150428 KMT2C c.2958A>G p.P986P Substitution - coding silent Soft_tissue COSM4634557 DIDO1 c.1008G>T p.Q336H Substitution - Missense Large_intestine COSM255137 MEN1 c.804_824del21 p.Y268_R275>* Complex - deletion inframe Parathyroid COSM1484315 BRD1 c.928G>A p.E310K Substitution - Missense Breast COSM4664728 ATXN7 c.2333_2334insC p.T781fs*6 Insertion - Frameshift Large_intestine COSM3832539 STK31 c.2535G>T p.L845F Substitution - Missense Breast COSM1026097 NCOA6 c.1885G>A p.V629M Substitution - Missense Endometrium COSM482570 NSD1 c.2418A>C p.I806I Substitution - coding silent Kidney COSM913246 BRDT c.2352G>A p.T784T Substitution - coding silent Stomach COSM1321378 EPC1 c.613A>C p.N205H Substitution - Missense Ovary COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1305688 EPC2 c.728G>C p.R243T Substitution - Missense Urinary_tract COSM1708573 CHD2 c.2108A>C p.K703T Substitution - Missense Skin COSM132997 ARID1A c.1014_1014delG p.A339fs*24 Deletion - Frameshift Large_intestine COSM4728301 SMARCA5 c.2393A>G p.Y798C Substitution - Missense Large_intestine COSM1375552 CHD2 c.3725delA p.K1245fs*4 Deletion - Frameshift Large_intestine COSM4679201 DOT1L c.2145C>T p.G715G Substitution - coding silent Large_intestine COSM110769 TET2 c.5612T>G p.I1871S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1753989 BRD8 c.671C>T p.S224F Substitution - Missense Liver COSM314408 PRDM16 c.1198C>T p.H400Y Substitution - Missense Lung COSM4383707 MECOM c.3031A>G p.M1011V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1461743 SMARCA2 c.3466G>A p.A1156T Substitution - Missense Large_intestine COSM5945453 EP300 c.1336G>T p.G446C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3126271 SMARCA5 c.2421T>G p.P807P Substitution - coding silent Large_intestine COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5891305 HDAC1 c.590C>T p.S197F Substitution - Missense Skin COSM3840818 NCOA6 c.5060C>G p.S1687C Substitution - Missense Breast COSM3618520 BRD9 c.591T>C p.S197S Substitution - coding silent Skin COSM1030713 BRWD1 c.2126G>A p.R709H Substitution - Missense Endometrium COSM4848495 NSD1 c.5036C>A p.S1679* Substitution - Nonsense Cervix COSM4775117 SUZ12 c.820A>C p.I274L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3807474 JMJD1C c.1082C>G p.T361R Substitution - Missense Breast COSM5429068 CBX8 c.648C>T p.G216G Substitution - coding silent Oesophagus COSM348716 SMARCC2 c.1183G>A p.E395K Substitution - Missense Lung COSM3725811 ING3 c.1046G>T p.S349I Substitution - Missense Lung COSM1617229 ACTL6A c.629T>G p.F210C Substitution - Missense Liver COSM3212706 GTF3C4 c.1455C>T p.C485C Substitution - coding silent Pancreas COSM3911514 ZMYND8 c.2299C>T p.P767S Substitution - Missense Skin COSM1106548 BRD3 c.1117G>A p.A373T Substitution - Missense Central_nervous_system COSM3860002 ARID1B c.5812T>C p.S1938P Substitution - Missense Stomach COSM1453414 ZCWPW1 c.1878G>A p.G626G Substitution - coding silent Large_intestine COSM5454349 TP53BP1 c.217C>T p.R73* Substitution - Nonsense Large_intestine COSM3957566 CREBBP c.3527A>T p.K1176M Substitution - Missense Lung COSM926759 RAG2 c.475C>T p.R159C Substitution - Missense Endometrium COSM1479262 NCOR1 c.7190C>T p.P2397L Substitution - Missense Breast COSM4092290 SP100 c.1972A>C p.S658R Substitution - Missense Stomach COSM1194212 PHF20 c.2174C>A p.A725E Substitution - Missense Lung COSM3743330 HAT1 c.757G>C p.G253R Substitution - Missense Liver COSM1666389 BRWD1 c.4879A>G p.K1627E Substitution - Missense Eye COSM1643498 ATAD2 c.1957C>T p.R653* Substitution - Nonsense Stomach COSM4797324 TRRAP c.2008-1G>A p.? Unknown Liver COSM3075980 BRPF3 c.2046G>C p.L682L Substitution - coding silent Upper_aerodigestive_tract COSM5440940 KDM3A c.3095-1G>T p.? Unknown Oesophagus COSM2078740 PHC2 c.1908delT p.L638fs*93 Deletion - Frameshift Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5645043 EYA4 c.1528G>C p.A510P Substitution - Missense Oesophagus COSM3514562 NCOR1 c.2846C>T p.P949L Substitution - Missense Skin COSM3445298 PRDM10 c.1201C>T p.P401S Substitution - Missense Skin COSM1743870 NCOA1 c.3181C>T p.R1061* Substitution - Nonsense Biliary_tract COSM729194 MECOM c.163G>A p.E55K Substitution - Missense Lung COSM1062 SMARCB1 c.139_143delTACCC p.Y47fs*22 Deletion - Frameshift Soft_tissue COSM1386960 CBX4 c.690delC p.N231fs*3 Deletion - Frameshift Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1423511 SETD2 c.5879C>A p.S1960Y Substitution - Missense Large_intestine COSM1349115 KAT6B c.566G>A p.S189N Substitution - Missense Large_intestine COSM3720038 PHF8 c.1935G>A p.A645A Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5711658 KDM6A c.3028G>T p.E1010* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5908596 ARID1B c.1997C>T p.P666L Substitution - Missense Skin COSM977057 PHF12 c.1037C>T p.S346L Substitution - Missense Endometrium COSM5985235 NSD1 c.7352G>A p.R2451K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4621285 SETD1B c.2328C>T p.H776H Substitution - coding silent Large_intestine COSM4161996 KMT2C c.2763A>G p.L921L Substitution - coding silent Thyroid COSM1753008 MECOM c.1234G>A p.D412N Substitution - Missense Urinary_tract COSM4793443 KDM1B c.1118G>T p.G373V Substitution - Missense Liver COSM433505 UBR7 c.990delC p.L331fs*1 Deletion - Frameshift Breast COSM1744345 SETDB1 c.1753C>G p.R585G Substitution - Missense Biliary_tract COSM290132 PRDM9 c.1843C>T p.R615W Substitution - Missense Large_intestine COSM3619189 PRDM1 c.1107G>A p.S369S Substitution - coding silent Skin COSM421047 SHPRH c.553A>G p.M185V Substitution - Missense Urinary_tract COSM3716082 EYA1 c.948C>T p.P316P Substitution - coding silent Upper_aerodigestive_tract COSM1757270 KDM6A c.1125C>T p.Y375Y Substitution - coding silent Urinary_tract COSM206736 ASH1L c.8683delA p.T2895fs*44 Deletion - Frameshift Stomach COSM4894062 BAZ2A c.2865C>T p.S955S Substitution - coding silent Skin COSM697924 BAZ1A c.4291G>A p.G1431R Substitution - Missense Lung COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2866680 TRRAP c.5956C>T p.R1986W Substitution - Missense Large_intestine COSM21478 HNF1A c.618G>T p.W206C Substitution - Missense Liver COSM1660183 TET2 c.4186T>C p.C1396R Substitution - Missense Kidney COSM5947200 RERE c.1652C>T p.P551L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM233098 PHF2 c.296C>T p.P99L Substitution - Missense Skin COSM468037 EP400 c.8226A>G p.Q2742Q Substitution - coding silent Oesophagus COSM4147510 PHC1 c.746C>T p.A249V Substitution - Missense Thyroid COSM3792082 ACTR6 c.760G>A p.E254K Substitution - Missense Urinary_tract COSM4932417 POGZ c.332A>G p.Q111R Substitution - Missense Liver COSM426750 RERE c.1746G>A p.S582S Substitution - coding silent Endometrium COSM1315838 ASXL1 c.2310_2311delAG p.V771fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3296152 MBD5 c.1833T>C p.S611S Substitution - coding silent Upper_aerodigestive_tract COSM277766 TP53BP1 c.5003G>T p.R1668I Substitution - Missense Breast COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1007248 EPC2 c.1272A>G p.E424E Substitution - coding silent Endometrium COSM308487 SETD2 c.3769_3777delAACACACAC p.N1257_H1259delNTH Deletion - In frame Kidney COSM4804835 PRDM16 c.1392C>A p.T464T Substitution - coding silent Liver COSM913223 BRDT c.19C>T p.Q7* Substitution - Nonsense Endometrium COSM1004 SMARCB1 c.646G>T p.E216* Substitution - Nonsense Soft_tissue COSM3991854 ZGPAT c.1281T>A p.P427P Substitution - coding silent Kidney COSM3437330 EPC1 c.846C>A p.I282I Substitution - coding silent Skin COSM465847 JMJD1C c.4882G>A p.D1628N Substitution - Missense Kidney COSM254669 EP300 c.4662G>C p.K1554N Substitution - Missense Urinary_tract COSM36207 ASXL1 c.4127G>A p.G1376D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3370397 SRCAP c.6364G>A p.G2122S Substitution - Missense Thyroid COSM42016 TET2 c.4393C>T p.R1465* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3896549 ATAD2 c.3918G>A p.Q1306Q Substitution - coding silent Stomach COSM1668035 ASH1L c.5465A>C p.N1822T Substitution - Missense Large_intestine COSM42016 TET2 c.4393C>T p.R1465* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4798512 DNMT3B c.588G>A p.Q196Q Substitution - coding silent Liver COSM1615671 NCOA5 c.1138G>A p.D380N Substitution - Missense Bone COSM1717192 BAHD1 c.1958G>T p.W653L Substitution - Missense Ovary COSM4603233 DIDO1 c.4878_4879insC p.A1627fs*53 Insertion - Frameshift Upper_aerodigestive_tract COSM1666806 BAP1 c.518A>G p.Y173C Substitution - Missense Eye COSM5835358 KMT2C c.12740_12743delCATC p.S4247fs*1 Deletion - Frameshift Breast COSM270714 MGA c.5599C>T p.R1867* Substitution - Nonsense Endometrium COSM4496458 KIAA1045 c.475C>T p.L159L Substitution - coding silent Skin COSM3341197 NSD1 c.5392delT p.F1799fs*22 Deletion - Frameshift Large_intestine COSM5679758 NIPBL c.537C>T p.A179A Substitution - coding silent Soft_tissue COSM3733336 KMT2C c.2263C>T p.Q755* Substitution - Nonsense Upper_aerodigestive_tract COSM1347140 TRDMT1 c.288G>A p.T96T Substitution - coding silent Large_intestine COSM3900248 MYST3 c.2345C>T p.S782F Substitution - Missense Stomach COSM5806750 PHF20 c.2090G>T p.C697F Substitution - Missense Liver COSM78604 TAF1 c.5150T>G p.L1717R Substitution - Missense Ovary COSM3392311 KAT2B c.761G>A p.R254H Substitution - Missense Pancreas COSM4617731 SMYD4 c.1735C>T p.R579W Substitution - Missense Large_intestine COSM1688033 BRDT c.1904C>T p.S635F Substitution - Missense Skin COSM1021261 MSH6 c.957G>A p.T319T Substitution - coding silent Stomach COSM4443543 BRPF3 c.1532G>A p.R511Q Substitution - Missense Large_intestine COSM1711245 SETBP1 c.4426G>A p.E1476K Substitution - Missense Skin COSM1716182 EZH2 c.? p.A692V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1999579 KDM1A c.465C>T p.P155P Substitution - coding silent Large_intestine COSM3415169 JMJD1C c.2414G>A p.R805Q Substitution - Missense Large_intestine COSM329123 AIRE c.1578T>C p.D526D Substitution - coding silent Kidney COSM4950452 SUZ12 c.1122_1147del26 p.K375fs*12 Deletion - Frameshift Liver COSM1329961 SMARCD3 c.1134+1G>T p.? Unknown Ovary COSM5720268 TET2 c.5665C>T p.P1889S Substitution - Missense Skin COSM3669154 DHX30 c.2520G>T p.V840V Substitution - coding silent Liver COSM1619517 BRD8 c.2893A>G p.N965D Substitution - Missense Liver COSM428958 RAG2 c.217C>T p.R73C Substitution - Missense Breast COSM3724687 HDAC9 c.1200G>A p.Q400Q Substitution - coding silent Lung COSM1369648 BAZ1A c.3764A>T p.E1255V Substitution - Missense Large_intestine COSM695015 APOBEC1 c.531G>A p.L177L Substitution - coding silent Lung COSM52947 IDH2 c.? p.R172? Substitution - Missense Bone COSM404039 SETDB2 c.557C>T p.A186V Substitution - Missense Lung COSM1208364 GLYATL1 c.497C>T p.T166M Substitution - Missense Large_intestine COSM1302000 GLYR1 c.457G>A p.E153K Substitution - Missense Urinary_tract COSM3755974 CHD3 c.8C>T p.A3V Substitution - Missense Large_intestine COSM1085997 TRIM24 c.1775C>T p.T592M Substitution - Missense Endometrium COSM4887714 YY1 c.337G>T p.V113L Substitution - Missense Upper_aerodigestive_tract COSM4893044 SHPRH c.2851A>G p.K951E Substitution - Missense Skin COSM1166176 TRRAP c.3127G>A p.A1043T Substitution - Missense Large_intestine COSM4311422 ATAD2B_ENST00000238789 c.358G>A p.G120R Substitution - Missense Oesophagus COSM240678 KMT2D c.11961delG p.G3988fs*20 Deletion - Frameshift Prostate COSM1180342 TAF1L c.4884G>A p.E1628E Substitution - coding silent Prostate COSM96347 ASXL1 c.? p.G646fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM5556962 DIDO1 c.5356A>G p.I1786V Substitution - Missense Prostate COSM146934 ERCC6 c.2751C>T p.G917G Substitution - coding silent Soft_tissue COSM4383907 TET2 c.3581C>T p.P1194L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4428594 EYA1 c.1323A>G p.V441V Substitution - coding silent Oesophagus COSM4402700 TTF2 c.2280C>T p.A760A Substitution - coding silent Skin COSM293694 TET2 c.601delA p.N202fs*5 Deletion - Frameshift Large_intestine COSM278999 ASH1L c.3917G>A p.R1306Q Substitution - Missense Large_intestine COSM4541977 TAF1L c.3100G>A p.E1034K Substitution - Missense Skin COSM1642168 MECOM c.1491delA p.V498fs*30 Deletion - Frameshift Stomach COSM13446 SMARCB1 c.363_628del266 p.? Deletion - Frameshift Soft_tissue COSM4048182 TDRD3 c.459T>A p.G153G Substitution - coding silent Stomach COSM401540 INOC1 c.4363G>T p.G1455C Substitution - Missense Lung COSM1645520 MSH6 c.2867A>G p.E956G Substitution - Missense Large_intestine COSM1709007 GTF3C1 c.1394C>T p.S465L Substitution - Missense Skin COSM1180774 KDM5A c.3597delA p.G1200fs*9 Deletion - Frameshift Large_intestine COSM3561784 PHF16 c.1353G>A p.E451E Substitution - coding silent Skin COSM1035221 BRD1 c.2831C>A p.P944Q Substitution - Missense Endometrium COSM5095265 KMT2D c.3484C>A p.Q1162K Substitution - Missense Thymus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1714992 SMC1A c.2870C>T p.S957F Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4168250 PHF6 c.22_23insA p.G10fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1616517 TCF20 c.5454A>G p.E1818E Substitution - coding silent Liver COSM5384612 GTF3C1 c.2534C>T p.S845F Substitution - Missense Skin COSM1742336 KMT2D c.14332C>T p.R4778C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1080959 PHF3 c.3962A>C p.K1321T Substitution - Missense Endometrium COSM1965115 KAT6B c.2474delT p.Y827fs*32 Deletion - Frameshift Large_intestine COSM3373580 PRDM8 c.1941C>T p.H647H Substitution - coding silent Thyroid COSM5946922 ARID2 c.2187T>C p.P729P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM479000 EP300 c.6643C>A p.Q2215K Substitution - Missense Kidney COSM468376 ARID2 c.3795C>A p.V1265V Substitution - coding silent Kidney COSM1245561 ASH1L c.5410C>T p.Q1804* Substitution - Nonsense Oesophagus COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4170140 TET2 c.2145_2146delCT p.S716fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4910187 NCOA7 c.308A>C p.K103T Substitution - Missense Liver COSM3919994 NIPBL c.3433C>T p.R1145C Substitution - Missense Skin COSM5991928 ACTR6 c.187-8delT p.? Unknown Prostate COSM4725163 SETD3 c.1546_1547insG p.D516fs*41 Insertion - Frameshift Large_intestine COSM1034585 L3MBTL2 c.538G>A p.D180N Substitution - Missense Endometrium COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4714048 PHIP c.2569G>A p.A857T Substitution - Missense Large_intestine COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM3410731 ARID1B c.2786C>T p.A929V Substitution - Missense Stomach COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM457991 TAF1 c.5557G>A p.E1853K Substitution - Missense Breast COSM3786516 TP53BP1 c.5544G>T p.L1848F Substitution - Missense Pancreas COSM4649640 CHD6 c.1233G>A p.T411T Substitution - coding silent Large_intestine COSM448601 PHF15 c.518A>G p.E173G Substitution - Missense Breast COSM5019110 MECOM c.2472G>A p.S824S Substitution - coding silent Soft_tissue COSM1165143 PWWP2B c.321G>A p.P107P Substitution - coding silent Stomach COSM594734 SHPRH c.548G>A p.G183D Substitution - Missense Upper_aerodigestive_tract COSM4728361 SMARCD3 c.315G>A p.E105E Substitution - coding silent Large_intestine COSM4950102 ARID2 c.2717_2718insT p.S907fs*44 Insertion - Frameshift Liver COSM3919889 PRDM9 c.844G>A p.E282K Substitution - Missense Skin COSM1636291 PHF2 c.2833-3A>G p.? Unknown Liver COSM2805032 BAHCC1 c.6674C>T p.A2225V Substitution - Missense Stomach COSM748327 TRRAP c.8851A>G p.T2951A Substitution - Missense Lung COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28371 ATF7IP c.1114G>T p.E372* Substitution - Nonsense Lung COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM29495 SMARCB1 c.1145delC p.P383fs*4 Deletion - Frameshift Central_nervous_system COSM22597 MEN1 c.1704delC p.K569fs*19 Deletion - Frameshift Parathyroid COSM51436 ARID1A c.5503C>T p.Q1835* Substitution - Nonsense Stomach COSM69715 ARID2 c.740G>A p.R247H Substitution - Missense Ovary COSM96393 ASXL1 c.1976G>A p.G659D Substitution - Missense Breast COSM97045 ASXL1 c.2400T>G p.D800E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM112087 TDG c.286_287insA p.I98fs*6 Insertion - Frameshift Upper_aerodigestive_tract COSM123885 KDM3A c.3371C>G p.S1124C Substitution - Missense Upper_aerodigestive_tract COSM135945 HDAC6 c.1246C>T p.P416S Substitution - Missense Skin COSM149915 BRD8 c.3684G>A p.V1228V Substitution - coding silent Large_intestine COSM185219 MYST1 c.292C>T p.R98W Substitution - Missense Stomach COSM211772 ARID1A c.2368C>T p.Q790* Substitution - Nonsense Kidney COSM242345 ZMYM3 c.204_205delAG p.D69fs*9 Deletion - Frameshift Prostate COSM248902 TRRAP c.2446C>T p.R816W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM254666 EP300 c.2620C>T p.Q874* Substitution - Nonsense Urinary_tract COSM41850 TET2 c.1630C>T p.R544* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM274174 BTAF1 c.23G>A p.R8H Substitution - Missense Large_intestine COSM288756 NCOA6 c.4579A>G p.K1527E Substitution - Missense Large_intestine COSM308082 KMT2C c.12149C>A p.S4050* Substitution - Nonsense Biliary_tract COSM336345 JMJD1C c.1116G>T p.M372I Substitution - Missense Lung COSM337507 ASXL3 c.2020G>T p.A674S Substitution - Missense Lung COSM386711 CREBBP c.3044G>T p.G1015V Substitution - Missense Lung COSM394579 EYA1 c.987G>A p.L329L Substitution - coding silent Lung COSM420054 KAT2B c.256C>G p.P86A Substitution - Missense Urinary_tract COSM455832 TAF1L c.760C>T p.R254* Substitution - Nonsense Breast COSM972509 CTCF c.1913C>T p.P638L Substitution - Missense Endometrium COSM480472 SFMBT1 c.1106C>G p.A369G Substitution - Missense Kidney COSM1049134 BRPF1 c.2142C>T p.N714N Substitution - coding silent Endometrium COSM752546 PRDM12 c.410G>A p.W137* Substitution - Nonsense Lung COSM754402 KIAA2026_ENST00000399933 c.3621G>T p.E1207D Substitution - Missense Lung COSM703444 FTO c.984A>G p.T328T Substitution - coding silent Lung COSM913363 MTF2 c.58C>T p.R20* Substitution - Nonsense Endometrium COSM1601863 ACTA1 c.468C>G p.D156E Substitution - Missense Liver COSM896933 ASH1L c.3191C>A p.S1064Y Substitution - Missense Endometrium COSM949288 YY1 c.283_284delAC p.T95fs*52 Deletion - Frameshift Endometrium COSM996180 SIRT2 c.585C>T p.C195C Substitution - coding silent Endometrium COSM1034992 PHF21B c.197C>T p.A66V Substitution - Missense Large_intestine COSM1041697 FXR1 c.990+1G>A p.? Unknown Endometrium COSM1041042 PHC3 c.602G>T p.S201I Substitution - Missense Endometrium COSM961977 TP53BP1 c.3001G>T p.E1001* Substitution - Nonsense Endometrium COSM1066299 NSD1 c.6050G>A p.R2017Q Substitution - Missense Upper_aerodigestive_tract COSM1115436 PHF6 c.587G>A p.R196K Substitution - Missense Endometrium COSM1128336 YY1 c.759A>G p.E253E Substitution - coding silent Breast COSM1166645 DUSP1 c.977T>C p.M326T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1166659 NSD1 c.1589C>T p.P530L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1184951 BRPF1 c.2836C>T p.R946C Substitution - Missense Stomach COSM1196620 METTL21D c.562T>G p.Y188D Substitution - Missense Lung COSM1193921 ATF2 c.794C>T p.S265F Substitution - Missense Lung COSM1162748 BRD9 c.928A>T p.M310L Substitution - Missense Skin COSM1220357 PHF2 c.136G>A p.D46N Substitution - Missense Large_intestine COSM1165523 HCFC1 c.302G>A p.R101Q Substitution - Missense Large_intestine COSM1188526 SMARCC2 c.3397C>T p.P1133S Substitution - Missense Lung COSM1311075 PRDM9 c.1488A>C p.E496D Substitution - Missense Urinary_tract COSM1319701 CHD7 c.7199_7201delGGA p.R2405delR Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM1334498 PYGO2 c.405delC p.F136fs*25 Deletion - Frameshift Large_intestine COSM1408194 CAMKMT c.912G>A p.P304P Substitution - coding silent Large_intestine COSM1411071 ASXL1 c.1609G>A p.E537K Substitution - Missense Large_intestine COSM1443395 EHMT2 c.1861G>A p.V621M Substitution - Missense Large_intestine COSM1363350 MBD6 c.2338delG p.G782fs*13 Deletion - Frameshift Stomach COSM1363776 CHD4 c.417G>T p.E139D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1533294 CHD6 c.5925C>T p.I1975I Substitution - coding silent Skin COSM1583423 SETDB1 c.3727C>T p.R1243C Substitution - Missense Endometrium COSM1628920 PHC1 c.42G>A p.G14G Substitution - coding silent Liver COSM1632483 BRWD1 c.4485T>C p.G1495G Substitution - coding silent Liver COSM1690769 SMYD1 c.910G>A p.E304K Substitution - Missense Urinary_tract COSM1644910 PRDM16 c.1634C>T p.A545V Substitution - Missense Salivary_gland COSM1716903 ASXL1 c.2384delC p.W796fs*22 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1716925 ATRX c.5124G>C p.L1708F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1757009 CHD6 c.7533C>T p.V2511V Substitution - coding silent Urinary_tract COSM1748463 KDM4A c.247A>G p.T83A Substitution - Missense Urinary_tract COSM1746594 RSF1 c.2069G>A p.G690D Substitution - Missense Urinary_tract COSM1755973 SET c.300T>A p.D100E Substitution - Missense Urinary_tract COSM1978013 PRDM10 c.2050C>T p.R684W Substitution - Missense Large_intestine COSM2150737 SETD2 c.6115G>A p.E2039K Substitution - Missense Central_nervous_system COSM2210741 ASH1L c.1554G>A p.K518K Substitution - coding silent Large_intestine COSM2243425 RERE c.3744C>T p.P1248P Substitution - coding silent Skin COSM2758193 NCOA6 c.2291G>A p.G764E Substitution - Missense Large_intestine COSM3291686 CHD6 c.3836C>T p.A1279V Substitution - Missense Large_intestine COSM3469193 SETDB2 c.1074C>T p.N358N Substitution - coding silent Skin COSM3455345 HCFC2 c.214T>G p.C72G Substitution - Missense Skin COSM3578877 SP140 c.244C>T p.Q82* Substitution - Nonsense Skin COSM3560209 SCML2 c.998C>T p.S333L Substitution - Missense Skin COSM3545798 PHF20 c.572C>T p.P191L Substitution - Missense Skin COSM3567452 MBD5 c.2731C>T p.P911S Substitution - Missense Skin COSM3663544 ATAD2 c.2138T>C p.V713A Substitution - Missense Liver COSM3689304 RBBP5 c.483G>A p.R161R Substitution - coding silent Large_intestine COSM3739300 RSF1 c.3471G>T p.R1157S Substitution - Missense Liver COSM3711879 CHD2 c.4488A>G p.Q1496Q Substitution - coding silent Upper_aerodigestive_tract COSM3748663 MBD1 c.1799C>A p.P600H Substitution - Missense Stomach COSM3751678 TRDMT1 c.301C>T p.H101Y Substitution - Missense Kidney COSM3816024 MGA c.350C>G p.S117* Substitution - Nonsense Breast COSM3788735 GATAD2B c.1509G>A p.M503I Substitution - Missense Urinary_tract COSM3791780 MEN1 c.669G>A p.L223L Substitution - coding silent Urinary_tract COSM3866829 MGMT c.167C>T p.P56L Substitution - Missense Skin COSM3869697 PHRF1 c.3992C>T p.S1331L Substitution - Missense Skin COSM3853966 NSD1 c.4759C>T p.R1587C Substitution - Missense Stomach COSM3935971 KMT2D c.14698C>T p.Q4900* Substitution - Nonsense Oesophagus COSM3941255 NSD1 c.135G>C p.G45G Substitution - coding silent Oesophagus COSM3925554 EYA1 c.413C>T p.S138L Substitution - Missense Large_intestine COSM3876892 MLL5 c.17C>A p.P6Q Substitution - Missense Stomach COSM3945114 MECOM c.157A>G p.M53V Substitution - Missense Lung COSM3966547 ZMYM6 c.1205G>A p.R402H Substitution - Missense Central_nervous_system COSM4041817 KDM5A c.1819C>T p.R607C Substitution - Missense Stomach COSM4042346 KMT2D c.12819C>T p.D4273D Substitution - coding silent Stomach COSM4111272 BRWD3 c.1490G>A p.R497Q Substitution - Missense Stomach COSM4071701 SMCHD1 c.522A>G p.K174K Substitution - coding silent Stomach COSM4076232 DOT1L c.1234G>A p.G412R Substitution - Missense Stomach COSM4162018 KMT2C c.2315C>T p.S772L Substitution - Missense Upper_aerodigestive_tract COSM41878 TET2 c.1147C>T p.Q383* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4170415 KMT2D c.9613G>A p.A3205T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4413451 JMJD1C c.4124T>C p.I1375T Substitution - Missense Genital_tract COSM4595317 RING1 c.1014T>G p.G338G Substitution - coding silent Upper_aerodigestive_tract COSM4420591 PRMT5 c.644A>G p.N215S Substitution - Missense Central_nervous_system COSM4569436 METTL21D c.175T>A p.S59T Substitution - Missense Skin COSM4592612 KAT2A c.1561G>C p.V521L Substitution - Missense Upper_aerodigestive_tract COSM4437997 PBRM1 c.527G>C p.G176A Substitution - Missense Oesophagus COSM4481766 PRDM10 c.2528C>T p.T843I Substitution - Missense Skin COSM4410707 PBRM1 c.435delT p.R146fs*28 Deletion - Frameshift Kidney COSM4666195 BRPF1 c.2470G>A p.A824T Substitution - Missense Large_intestine COSM4674144 BMI1 c.411C>A p.F137L Substitution - Missense Large_intestine COSM4665212 BAZ1B c.1282C>A p.L428M Substitution - Missense Large_intestine COSM4630913 BRPF1 c.691C>T p.R231C Substitution - Missense Large_intestine COSM4758454 KDM3A c.2447C>T p.A816V Substitution - Missense Stomach COSM4805985 SMARCC1 c.1816T>G p.Y606D Substitution - Missense Liver COSM4794194 BAZ2A_ENST00000379441 c.3636G>A p.Q1212Q Substitution - coding silent Liver COSM4850119 KMT2D c.4060G>A p.E1354K Substitution - Missense Cervix COSM4850382 PHF21A c.414G>A p.L138L Substitution - coding silent Cervix COSM4960716 DPF2 c.395G>A p.G132D Substitution - Missense Liver COSM4950262 DIDO1 c.2612_2613insA p.Q872fs*8 Insertion - Frameshift Liver COSM4992386 PRDM1 c.1450G>A p.G484R Substitution - Missense Skin COSM5019656 TIF1 c.2823C>T p.N941N Substitution - coding silent Soft_tissue COSM5063849 SMARCA2 c.3063G>A p.M1021I Substitution - Missense Stomach COSM5046841 SRCAP c.7847_7848insC p.N2618fs*12 Insertion - Frameshift Oesophagus COSM5365711 MUM1 c.942C>A p.A314A Substitution - coding silent Large_intestine COSM5497950 PHF2 c.2703C>T p.D901D Substitution - coding silent Biliary_tract COSM5462368 CHD8 c.3470A>G p.Q1157R Substitution - Missense Large_intestine COSM5486448 KDM3B c.2811C>T p.C937C Substitution - coding silent Large_intestine COSM5440960 CDYL c.1048G>C p.D350H Substitution - Missense Oesophagus COSM5640465 BAG6 c.307G>A p.G103R Substitution - Missense Oesophagus COSM5631188 PRDM9 c.2556G>T p.R852S Substitution - Missense Oesophagus COSM5644828 SETBP1 c.1768C>A p.P590T Substitution - Missense Oesophagus COSM5718892 HDAC4 c.704C>T p.A235V Substitution - Missense Skin COSM5737437 NSD1 c.4748G>A p.C1583Y Substitution - Missense Small_intestine COSM5580322 BAZ2A c.1151C>T p.A384V Substitution - Missense Skin COSM5659825 TDRD5 c.2321C>G p.S774* Substitution - Nonsense Soft_tissue COSM5574169 ARID1A c.1852A>G p.M618V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5773163 TAF1L c.1880G>A p.G627E Substitution - Missense Breast COSM5792075 SMYD4 c.1074G>A p.V358V Substitution - coding silent Breast COSM5946477 WHSC1 c.3575G>A p.R1192Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5953174 CBX3 c.36_37insA p.Q15fs*6 Insertion - Frameshift Oesophagus COSM5894343 GABRG1 c.1369G>A p.V457I Substitution - Missense Skin COSM5966652 TAF1L c.5083A>G p.I1695V Substitution - Missense Adrenal_gland COSM5977951 ZMYM1 c.1825G>A p.V609I Substitution - Missense Upper_aerodigestive_tract COSM5032219 PBRM1 c.? p.R1010* Substitution - Nonsense Lung COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM42011 TET2 c.5615T>C p.L1872P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1583160 EZH2 c.? p.T723S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3095603 ZMYM3 c.1613G>T p.G538V Substitution - Missense Large_intestine COSM3523592 BAHCC1 c.4140C>T p.I1380I Substitution - coding silent Skin COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM5941243 TET2 c.100C>T p.L34F Substitution - Missense Skin COSM5657024 RNF134 c.86T>C p.V29A Substitution - Missense Skin COSM971408 CHD9 c.575C>A p.S192Y Substitution - Missense Endometrium COSM1724957 SFMBT2 c.2437_2439delGAG p.E813delE Deletion - In frame Bone COSM1184981 BRWD3 c.4927A>T p.S1643C Substitution - Missense Large_intestine COSM5635228 BRD9 c.984-2A>T p.? Unknown Oesophagus COSM1080966 PHF3 c.4834A>C p.N1612H Substitution - Missense Endometrium COSM3622293 ARID1B c.4986C>T p.L1662L Substitution - coding silent Skin COSM3807478 JMJD1C c.122C>A p.S41* Substitution - Nonsense Breast COSM230133 KMT2C c.1173C>A p.C391* Substitution - Nonsense Soft_tissue COSM41644 TET2 c.1648C>T p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3578870 SP110 c.433C>T p.P145S Substitution - Missense Skin COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Upper_aerodigestive_tract COSM211625 TET2 c.4457C>G p.S1486* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4460051 KDM3B c.1151C>T p.P384L Substitution - Missense Skin COSM48986 MECOM c.2014-2A>T p.? Unknown Lung COSM4644831 ATAD2 c.1692C>T p.S564S Substitution - coding silent Large_intestine COSM41846 TET2 c.? p.R544* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM436811 MYST2 c.1558C>T p.R520C Substitution - Missense Breast COSM3656844 TAF1L c.3494G>A p.R1165K Substitution - Missense Skin COSM1300484 CHD8 c.5788G>A p.D1930N Substitution - Missense Urinary_tract COSM4730574 STK31 c.3027G>T p.K1009N Substitution - Missense Large_intestine COSM110739 BAP1 c.1145_1146insG p.R383fs*15 Insertion - Frameshift Skin COSM3347119 EHMT2 c.3394C>T p.R1132* Substitution - Nonsense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3395976 JMJD1C c.1935G>T p.W645C Substitution - Missense Prostate COSM374076 KMT2A c.7098C>T p.S2366S Substitution - coding silent Lung COSM1734526 MYST3 c.5635C>A p.P1879T Substitution - Missense Pancreas COSM4960785 PRDM2 c.4197G>A p.Q1399Q Substitution - coding silent Liver COSM4943274 KMT2C c.13132G>A p.E4378K Substitution - Missense Breast COSM1314059 MYST3 c.2186C>G p.S729C Substitution - Missense Urinary_tract COSM249685 NCOR1 c.448G>A p.G150R Substitution - Missense Large_intestine COSM954570 PRMT5 c.1096G>A p.A366T Substitution - Missense Endometrium COSM3403145 BPTF c.5937A>G p.Q1979Q Substitution - coding silent Central_nervous_system COSM41292 IDH1 c.? p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5600456 SETD5_ENST00000402198 c.974T>G p.V325G Substitution - Missense Skin COSM1049126 BRPF1 c.1132C>T p.P378S Substitution - Missense Endometrium COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Bone COSM277375 SMARCA1 c.2535G>A p.E845E Substitution - coding silent Large_intestine COSM3858413 EYA4 c.1287T>G p.C429W Substitution - Missense Stomach COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5392551 DIDO1 c.2465C>T p.P822L Substitution - Missense Skin COSM1753513 PRDM5 c.769C>T p.R257W Substitution - Missense Urinary_tract COSM327114 TET2 c.2643G>A p.R881R Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1698017 EYA4 c.786T>A p.N262K Substitution - Missense Skin COSM4949624 ARID1A c.622C>T p.P208S Substitution - Missense Liver COSM3592254 ZCWPW2 c.759T>C p.D253D Substitution - coding silent Skin COSM5723824 TDRD6 c.5198G>T p.S1733I Substitution - Missense Skin COSM1093740 TRRAP c.11280G>A p.T3760T Substitution - coding silent Endometrium COSM5032944 ARID1A c.6413C>A p.T2138K Substitution - Missense Oesophagus COSM961339 INOC1 c.4429G>A p.A1477T Substitution - Missense Endometrium COSM1679016 SRCAP c.2162G>C p.C721S Substitution - Missense Large_intestine COSM1341882 PRDM16 c.1652_1653insG p.N553fs*51 Insertion - Frameshift Large_intestine COSM3650673 PRDM14 c.822C>T p.I274I Substitution - coding silent Skin COSM1478385 MORF4L1 c.353C>G p.A118G Substitution - Missense Breast COSM5653595 KMT2D c.11410_11411delCA p.Q3804fs*32 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2027712 MTA1 c.2005C>T p.R669C Substitution - Missense Stomach COSM32514 KAT6B c.1447A>G p.T483A Substitution - Missense Breast COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Breast COSM71703 MTF2 c.481A>C p.K161Q Substitution - Missense Ovary COSM5052554 POGZ c.3961C>T p.R1321C Substitution - Missense Stomach COSM3097830 BRWD3 c.3286A>C p.K1096Q Substitution - Missense Large_intestine COSM3385119 PRDM2 c.1711G>A p.D571N Substitution - Missense Pancreas COSM4534289 PRDM16 c.2070G>A p.G690G Substitution - coding silent Skin COSM5699599 SETBP1 c.4134A>G p.L1378L Substitution - coding silent Soft_tissue COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Large_intestine COSM1641364 ZMYND8 c.1964delA p.K655fs*14 Deletion - Frameshift Large_intestine COSM129663 TET1 c.5537C>T p.P1846L Substitution - Missense Upper_aerodigestive_tract COSM4761491 EP400 c.8548C>T p.R2850W Substitution - Missense Stomach COSM4798555 SMARCB1 c.1067T>C p.L356P Substitution - Missense Liver COSM97035 ASXL1 c.2278C>T p.Q760* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1753305 PBRM1 c.4530C>T p.L1510L Substitution - coding silent Urinary_tract COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5061349 HDAC2 c.1114C>T p.R372C Substitution - Missense Stomach COSM3870586 HCFC2 c.385G>T p.G129* Substitution - Nonsense Skin COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5682664 HDAC6 c.1652C>A p.T551K Substitution - Missense Soft_tissue COSM907951 EYA3 c.910C>T p.R304W Substitution - Missense Small_intestine COSM5606302 ACTB c.826G>A p.E276K Substitution - Missense Skin COSM3754994 PRMT7 c.1638C>T p.D546D Substitution - coding silent Breast COSM5709087 SMARCA5 c.1127G>C p.G376A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1241719 SETBP1 c.529T>A p.F177I Substitution - Missense Oesophagus COSM983356 BPTF c.7953T>G p.I2651M Substitution - Missense Endometrium COSM308851 ACTL6B c.60C>A p.S20S Substitution - coding silent Soft_tissue COSM3743638 SP140_ENST00000392045 c.2156C>T p.P719L Substitution - Missense Liver COSM4519531 ING1 c.585G>C p.E195D Substitution - Missense Skin COSM1635853 PRDM14 c.1593C>T p.A531A Substitution - coding silent Liver COSM3563531 ATRX c.289C>T p.P97S Substitution - Missense Skin COSM976135 RAI1 c.5518G>A p.G1840R Substitution - Missense Endometrium COSM3480145 RNF2 c.343C>T p.P115S Substitution - Missense Skin COSM23153 MEN1 c.? p.Q166* Substitution - Nonsense Parathyroid COSM4893201 JMJD5 c.667T>G p.L223V Substitution - Missense Skin COSM252979 CLOCK c.368delT p.L123fs*1 Deletion - Frameshift Large_intestine COSM2178788 TTF2 c.832delG p.G279fs*100 Deletion - Frameshift Large_intestine COSM709401 CXXC1 c.19G>C p.D7H Substitution - Missense Lung COSM4565684 RBBP5 c.23_24CC>TT p.S8F Substitution - Missense Skin COSM4385588 TET2 c.2490_2491insAATA p.Q831fs*16 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3830140 EHMT2 c.586C>A p.P196T Substitution - Missense Breast COSM2157801 PHF10 c.786_787insC p.A263fs*37 Insertion - Frameshift Central_nervous_system COSM1159571 CHD8 c.1570G>A p.A524T Substitution - Missense Pancreas COSM3370750 HDAC5 c.675C>T p.S225S Substitution - coding silent Thyroid COSM4040550 ATF7IP c.3470G>A p.S1157N Substitution - Missense Stomach COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4409957 NIPBL c.7955C>T p.S2652L Substitution - Missense Oesophagus COSM213249 KMT2D c.3524G>C p.C1175S Substitution - Missense Breast COSM1419552 ZBTB38 c.1219C>T p.R407C Substitution - Missense Large_intestine COSM1108236 TAF1L c.2470G>T p.D824Y Substitution - Missense Endometrium COSM196575 RSF1 c.2530C>T p.R844* Substitution - Nonsense Skin COSM5768892 BAG6 c.922G>T p.E308* Substitution - Nonsense Breast COSM4385142 ACTR5 c.1351G>A p.A451T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3426174 SP110 c.767C>A p.S256Y Substitution - Missense Large_intestine COSM3979802 TDRKH c.600T>G p.L200L Substitution - coding silent Ovary COSM1041412 TBL1XR1 c.1047G>A p.T349T Substitution - coding silent Stomach COSM908645 ZMYM1 c.2293C>T p.R765* Substitution - Nonsense Endometrium COSM3525444 ASXL3 c.1904G>A p.G635E Substitution - Missense Skin COSM3939008 HDAC4 c.2598C>T p.D866D Substitution - coding silent Oesophagus COSM1462701 KDM4C c.1392A>T p.I464I Substitution - coding silent Large_intestine COSM4801269 PRMT10 c.1433T>G p.M478R Substitution - Missense Liver COSM1114807 SMARCA1 c.1050G>A p.L350L Substitution - coding silent Endometrium COSM5050794 RAG2 c.944A>C p.K315T Substitution - Missense Stomach COSM233632 TP53BP1 c.2062C>T p.P688S Substitution - Missense Skin COSM42088 TET2 c.4664_4665delAG p.E1555fs*22 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4119257 SFMBT1 c.430C>T p.P144S Substitution - Missense Stomach COSM1321046 KDM4A c.1283C>T p.T428M Substitution - Missense Ovary COSM4063041 CDYL2 c.742C>T p.R248W Substitution - Missense Stomach COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1603318 BMI1 c.249T>A p.V83V Substitution - coding silent Liver COSM4992300 NSD1 c.4487C>T p.P1496L Substitution - Missense Skin COSM4015124 JMJD1C c.2133A>G p.A711A Substitution - coding silent Stomach COSM5355004 RUVBL1 c.604-5delT p.? Unknown Large_intestine COSM5900361 ASXL3 c.1373A>C p.E458A Substitution - Missense Skin COSM1390032 DNMT1 c.807C>T p.G269G Substitution - coding silent Large_intestine COSM4954173 KMT2C c.12888A>C p.P4296P Substitution - coding silent Liver COSM1753985 BRD8 c.1447G>A p.E483K Substitution - Missense Urinary_tract COSM5487283 SRCAP c.2191G>T p.D731Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4067325 CBX1 c.328C>T p.P110S Substitution - Missense Stomach COSM4835502 TET2 c.3718C>T p.L1240L Substitution - coding silent Cervix COSM4548402 RAI1 c.4467G>A p.E1489E Substitution - coding silent Skin COSM5468794 CDYL2 c.317G>A p.R106Q Substitution - Missense Large_intestine COSM1680490 DOT1L c.3950C>T p.T1317I Substitution - Missense Large_intestine COSM311722 HDAC4 c.2577C>T p.Y859Y Substitution - coding silent Lung COSM1196836 NCOA2 c.1699G>T p.V567F Substitution - Missense Lung COSM41597 ASXL1 c.1899_1921del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4637636 MTA2 c.1578C>T p.A526A Substitution - coding silent Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5973917 KDM3A c.1264G>T p.A422S Substitution - Missense Upper_aerodigestive_tract COSM4403915 NCOA5 c.752C>T p.P251L Substitution - Missense Skin COSM4603233 DIDO1 c.4878_4879insC p.A1627fs*53 Insertion - Frameshift Upper_aerodigestive_tract COSM1205375 EP300 c.6645A>C p.Q2215H Substitution - Missense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM709408 MBD1 c.961G>A p.V321I Substitution - Missense Lung COSM72738 SMARCC2 c.1433A>T p.Q478L Substitution - Missense Ovary COSM5037962 TCF20 c.4137G>C p.T1379T Substitution - coding silent Skin COSM34090 IDH2 c.516G>T p.R172S Substitution - Missense Bone COSM1316614 BRWD3 c.2464A>C p.S822R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4578206 INOC1 c.1833C>T p.F611F Substitution - coding silent Bone COSM4954911 PRDM8 c.827G>T p.S276I Substitution - Missense Liver COSM3596037 BAP1 c.1250G>T p.R417M Substitution - Missense Skin COSM96374 BAP1 c.284C>A p.A95D Substitution - Missense Pleura COSM4562330 MGA c.921G>A p.L307L Substitution - coding silent Skin COSM5600714 TP53BP1 c.3266C>T p.P1089L Substitution - Missense Skin COSM363080 EP400 c.7317G>T p.R2439S Substitution - Missense Lung COSM3721667 ERCC6 c.3915G>A p.L1305L Substitution - coding silent Upper_aerodigestive_tract COSM744990 EZH2 c.1135G>C p.E379Q Substitution - Missense Lung COSM1611510 CARM1 c.305T>C p.L102P Substitution - Missense Liver COSM1749373 IDH2 c.622G>T p.E208* Substitution - Nonsense Urinary_tract COSM396195 BAG6 c.929G>T p.R310L Substitution - Missense Lung COSM1423580 SETD2 c.815T>G p.V272G Substitution - Missense Skin COSM5617561 HDAC6 c.933+5G>A p.? Unknown Lung COSM4672073 CHD6 c.1713C>T p.H571H Substitution - coding silent Large_intestine COSM1243659 TAF1L c.2584C>T p.R862W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5566755 HDAC5 c.2198G>A p.R733H Substitution - Missense Prostate COSM4495571 BAP1 c.456C>T p.L152L Substitution - coding silent Skin COSM359208 SETBP1 c.3274C>A p.P1092T Substitution - Missense Lung COSM4771391 PBRM1 c.4045_4046insC p.L1349fs*4 Insertion - Frameshift Kidney COSM1583111 DNMT3A c.2272_2274delGTG p.V758del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM5396448 SP140 c.82G>A p.V28I Substitution - Missense Skin COSM52918 BAP1 c.1984-1G>T p.? Unknown Urinary_tract COSM220676 KMT2D c.11677C>T p.P3893S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4675727 CXXC1 c.813G>T p.E271D Substitution - Missense Large_intestine COSM43446 TET2 c.2428C>T p.Q810* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5818087 NCOA6 c.932A>T p.Q311L Substitution - Missense Liver COSM4110860 ZMYM3 c.1235G>A p.C412Y Substitution - Missense Stomach COSM4004606 ACTR6 c.671+10A>G p.? Unknown Ovary COSM3408802 PBRM1 c.3743A>G p.E1248G Substitution - Missense Central_nervous_system COSM3376719 POGZ c.3302C>T p.A1101V Substitution - Missense Pancreas COSM920018 SFMBT2 c.1750G>A p.E584K Substitution - Missense Skin COSM3508894 SRCAP c.1050C>T p.P350P Substitution - coding silent Skin COSM110112 KDM4A c.454C>T p.R152W Substitution - Missense Skin COSM4889763 ZMYM3 c.1864G>T p.D622Y Substitution - Missense Upper_aerodigestive_tract COSM4166301 TAF1L c.1279C>A p.L427M Substitution - Missense Lung COSM4538051 KAT2B c.2498G>A p.*833* Substitution - coding silent Skin COSM5039774 CDYL c.889G>A p.G297R Substitution - Missense Liver COSM129510 SUV420H1 c.2574G>C p.L858F Substitution - Missense Urinary_tract COSM5599661 HDAC1 c.234C>T p.S78S Substitution - coding silent Skin COSM5817367 TAF1L c.1362C>A p.G454G Substitution - coding silent Liver COSM5368959 MECOM c.1033C>A p.Q345K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1606150 ARID2 c.5110G>T p.E1704* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1602148 ARID1A c.3972delC p.P1326fs*155 Deletion - Frameshift Large_intestine COSM3735051 SMARCA4 c.3547_3951del405 p.D1183_M1317del Deletion - In frame Ovary COSM452698 KMT2C c.9317G>A p.G3106D Substitution - Missense Breast COSM4847574 PHF12 c.1332G>A p.L444L Substitution - coding silent Cervix COSM5740849 ZBTB4 c.790G>T p.G264W Substitution - Missense Small_intestine COSM1696218 BRD8 c.3679_3680CC>TT p.P1227L Substitution - Missense Skin COSM5514597 ARID1A c.1984_1991delAGCACATC p.S662fs*11 Deletion - Frameshift Biliary_tract COSM3375539 KAT6B c.1154C>T p.S385L Substitution - Missense Upper_aerodigestive_tract COSM937157 EP400 c.3374G>A p.R1125H Substitution - Missense Endometrium COSM3555668 HDAC10 c.1174G>A p.A392T Substitution - Missense Skin COSM146934 ERCC6 c.2751C>T p.G917G Substitution - coding silent Soft_tissue COSM5733896 ARID1B c.25C>T p.H9Y Substitution - Missense Pancreas COSM4641769 CHD4 c.690A>G p.A230A Substitution - coding silent Large_intestine COSM743714 ACTL6B c.575C>T p.S192F Substitution - Missense Lung COSM1299804 CHD4 c.1902G>C p.K634N Substitution - Missense Urinary_tract COSM1324134 RAI1 c.3865_3872delGCCACAAA p.T1290fs*55 Deletion - Frameshift Ovary COSM13394 MSH6 c.3261_3262insC p.F1088fs*5 Insertion - Frameshift Large_intestine COSM4694943 KDM3B c.2551C>T p.R851C Substitution - Missense Large_intestine COSM1244702 AICDA c.355C>T p.R119C Substitution - Missense Large_intestine COSM4669565 CBX4 c.1646G>A p.C549Y Substitution - Missense Large_intestine COSM4915765 HCFC1 c.1995G>A p.K665K Substitution - coding silent Liver COSM4838344 PHF12 c.136G>C p.E46Q Substitution - Missense Cervix COSM746378 STK31 c.2827C>G p.L943V Substitution - Missense Lung COSM4938697 ARID1A c.3080A>G p.Y1027C Substitution - Missense Liver COSM1331143 HCFC1 c.1911C>T p.T637T Substitution - coding silent Ovary COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4383792 TET2 c.1255delC p.P419fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM278971 ARID2 c.940C>T p.R314C Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1226763 SMARCA4 c.1111G>A p.E371K Substitution - Missense Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM180427 BRPF1 c.196C>T p.R66C Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3971607 EPC2 c.1401A>G p.T467T Substitution - coding silent Central_nervous_system COSM5010118 CREBBP c.5408A>G p.Q1803R Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4423090 SP140 c.226C>A p.Q76K Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4962755 BAP1 c.321C>A p.D107E Substitution - Missense Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3911509 EYA2 c.174C>T p.L58L Substitution - coding silent Skin COSM210959 DOT1L c.1288C>T p.Q430* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4663246 ARID1B c.3181T>C p.F1061L Substitution - Missense Large_intestine COSM1185364 KDM1A c.34G>T p.A12S Substitution - Missense Lung COSM1495084 CHD6 c.3188A>G p.D1063G Substitution - Missense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3806425 SMNDC1 c.74G>A p.G25E Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM414735 BRDT c.1820T>G p.L607R Substitution - Missense Urinary_tract COSM1312940 HDAC9 c.1749G>A p.T583T Substitution - coding silent Biliary_tract COSM3739671 ARID2 c.2877A>T p.T959T Substitution - coding silent Liver COSM971512 FTO c.1087G>T p.V363F Substitution - Missense Endometrium COSM1413012 DIDO1 c.5379A>G p.R1793R Substitution - coding silent Large_intestine COSM322623 PHF21B c.267C>A p.D89E Substitution - Missense Lung COSM3296318 EPC2 c.2298T>C p.S766S Substitution - coding silent Upper_aerodigestive_tract COSM4742905 ZMYM2 c.2847G>A p.E949E Substitution - coding silent Large_intestine COSM3800745 HDAC8 c.67G>A p.E23K Substitution - Missense Urinary_tract COSM330331 NCOR1 c.4087G>T p.E1363* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5973919 SMYD1 c.59G>T p.G20V Substitution - Missense Upper_aerodigestive_tract COSM99740 DNMT3A c.2645G>C p.R882P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM379426 TRRAP c.6005G>T p.R2002M Substitution - Missense Lung COSM5413117 ATRX c.5802G>A p.G1934G Substitution - coding silent Skin COSM5696071 DPF1 c.940C>A p.R314R Substitution - coding silent Soft_tissue COSM4722037 RNF17 c.6G>A p.A2A Substitution - coding silent Large_intestine COSM1263122 PRMT1 c.255C>T p.A85A Substitution - coding silent Oesophagus COSM3858851 SHPRH c.2927G>T p.R976M Substitution - Missense Stomach COSM4531038 GATAD2A c.1323G>A p.K441K Substitution - coding silent Skin COSM5718015 BRD4 c.613C>T p.P205S Substitution - Missense Skin COSM405019 ASH1L c.7804-1_7814delGGTATGGCAGCA p.? Unknown Lung COSM132968 ASXL1 c.? p.E635fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM1246218 BRD4 c.747G>C p.T249T Substitution - coding silent Stomach COSM5418005 BRD4 c.560-10T>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM12928 TAF1 c.2073G>A p.M691I Substitution - Missense Lung COSM21476 HNF1A c.82C>T p.Q28* Substitution - Nonsense Liver COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85917 TET2 c.2227C>T p.Q743* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM53095 DNMT3A c.2196_2197insT p.E733fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM53302 SMARCB1 c.847_848delAT p.M283fs*77 Deletion - Frameshift Central_nervous_system COSM78688 TP53BP1 c.760C>T p.P254S Substitution - Missense Ovary COSM110707 ASXL1 c.1762C>T p.Q588* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM127361 ARID4A c.1920A>G p.K640K Substitution - coding silent Upper_aerodigestive_tract COSM133672 IDH2 c.516G>C p.R172S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Soft_tissue COSM173622 BAZ1B c.596G>A p.R199Q Substitution - Missense Large_intestine COSM218876 BAG6 c.268C>T p.P90S Substitution - Missense Pancreas COSM216496 DIDO1 c.2647T>C p.L883L Substitution - coding silent Pancreas COSM236338 ACTR8 c.866C>A p.T289K Substitution - Missense Autonomic_ganglia COSM273153 PRMT10 c.2288C>T p.T763I Substitution - Missense Large_intestine COSM312960 MTA1 c.603G>A p.A201A Substitution - coding silent Lung COSM309889 CCDC101 c.196G>A p.A66T Substitution - Missense Lung COSM304624 GLYATL1 c.290A>G p.D97G Substitution - Missense Large_intestine COSM331655 TAF1L c.2930G>A p.G977E Substitution - Missense Lung COSM385685 BRD1 c.1407G>A p.K469K Substitution - coding silent Lung COSM383564 NCOA2 c.1741G>T p.D581Y Substitution - Missense Lung COSM380663 MLL5 c.2445C>A p.C815* Substitution - Nonsense Lung COSM422796 PBRM1 c.2770G>T p.E924* Substitution - Nonsense Kidney COSM470407 SETD3 c.584G>T p.R195L Substitution - Missense Kidney COSM3688478 PHC1 c.2256G>T p.V752V Substitution - coding silent Large_intestine COSM1600787 VPS72 c.1067C>T p.A356V Substitution - Missense Liver COSM1048010 ATXN7 c.1049T>C p.I350T Substitution - Missense Endometrium COSM1027963 ADNP c.3009C>T p.S1003S Substitution - coding silent Endometrium COSM752838 PHF19 c.1129G>A p.G377S Substitution - Missense Lung COSM699904 INOC1 c.3703C>T p.L1235L Substitution - coding silent Lung COSM726779 BRD1 c.1098C>A p.P366P Substitution - coding silent Large_intestine COSM1043291 KAT2B c.1331G>A p.R444Q Substitution - Missense Endometrium COSM1072938 NCOA7 c.1670A>G p.D557G Substitution - Missense Endometrium COSM1125399 ATRX c.6405C>T p.F2135F Substitution - coding silent Endometrium COSM1108213 TAF1L c.4989T>G p.S1663S Substitution - coding silent Endometrium COSM1088167 HDAC9 c.1352G>A p.R451Q Substitution - Missense Endometrium COSM1100913 CHD7 c.8616A>G p.G2872G Substitution - coding silent Endometrium COSM1238675 DIDO1 c.4771C>T p.P1591S Substitution - Missense Oesophagus COSM1242653 PHF19 c.510G>T p.Q170H Substitution - Missense Oesophagus COSM1205382 EP400 c.2743G>A p.D915N Substitution - Missense Large_intestine COSM1180961 ATXN7 c.2334delC p.T781fs*11 Deletion - Frameshift Large_intestine COSM1201427 CLOCK c.1438T>G p.F480V Substitution - Missense Large_intestine COSM1314682 EHMT1 c.3669C>T p.F1223F Substitution - coding silent Urinary_tract COSM1297293 ERCC6 c.2438C>T p.S813F Substitution - Missense Urinary_tract COSM1300578 BAZ1A c.4330G>C p.E1444Q Substitution - Missense Urinary_tract COSM1377597 MYST1 c.961delC p.Y323fs*48 Deletion - Frameshift Large_intestine COSM1391086 BRD4 c.1267C>T p.R423* Substitution - Nonsense Large_intestine COSM1407117 DNMT3A c.912C>T p.S304S Substitution - coding silent Large_intestine COSM1352561 PRDM10 c.3257C>T p.A1086V Substitution - Missense Large_intestine COSM1341430 ARID1A c.6415delC p.F2141fs*59 Deletion - Frameshift Stomach COSM1566456 CBX6 c.1206T>G p.A402A Substitution - coding silent Large_intestine COSM1469434 ATRX c.6563G>C p.R2188P Substitution - Missense Large_intestine COSM1476762 BAZ2A_ENST00000379441 c.859C>A p.Q287K Substitution - Missense Breast COSM1626325 TRIM33 c.868A>C p.T290P Substitution - Missense Liver COSM1636674 TDRKH c.201C>T p.I67I Substitution - coding silent Bone COSM1644110 KDM5D c.3585G>C p.W1195C Substitution - Missense Stomach COSM1721037 ZMYM6 c.429-3delT p.? Unknown Skin COSM1716964 ALKBH1 c.356_357insCCTT p.K120fs*2 Insertion - Frameshift Ovary COSM1983026 LMNA c.1300G>A p.A434T Substitution - Missense Large_intestine COSM2151251 DHX30 c.2545G>A p.D849N Substitution - Missense Central_nervous_system COSM2218376 PYGO1 c.686T>G p.F229C Substitution - Missense Large_intestine COSM2235464 ARID1A c.2652T>A p.C884* Substitution - Nonsense Endometrium COSM2762713 ADNP c.1310delC p.P437fs*41 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2965428 KDM6A c.2894A>C p.N965T Substitution - Missense Large_intestine COSM3194762 AKAP1 c.1345G>A p.D449N Substitution - Missense Large_intestine COSM3262395 KMT2C c.14181C>T p.H4727H Substitution - coding silent Large_intestine COSM3365375 PBRM1 c.3143C>T p.P1048L Substitution - Missense Kidney COSM3360053 RNF17 c.1052C>G p.S351C Substitution - Missense Kidney COSM3401225 CHD8 c.2671G>C p.G891R Substitution - Missense Central_nervous_system COSM3403480 AP001011.3_ENST00000320876 c.659G>A p.R220H Substitution - Missense Central_nervous_system COSM3439571 JMJD1C c.5748A>C p.L1916F Substitution - Missense Skin COSM3461195 HDAC7 c.1128C>T p.P376P Substitution - coding silent Skin COSM3474971 ASH1L c.3054C>T p.L1018L Substitution - coding silent Skin COSM3637570 STK31 c.3047A>G p.N1016S Substitution - Missense Skin COSM3626172 BRPF3 c.3344C>T p.P1115L Substitution - Missense Skin COSM3720051 TET2 c.2113C>T p.Q705* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3728298 SETD2 c.5989_5991delACC p.T1999delT Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM3848135 EHMT1 c.3675C>T p.C1225C Substitution - coding silent Breast COSM3907607 UHRF2 c.2199C>T p.C733C Substitution - coding silent Prostate COSM3889169 PRDM7 c.257C>T p.S86F Substitution - Missense Skin COSM3876904 MLL5 c.1964C>G p.S655C Substitution - Missense Stomach COSM3975702 PRDM1 c.2176G>A p.V726M Substitution - Missense Central_nervous_system COSM3954842 KMT2D c.4216G>C p.E1406Q Substitution - Missense Lung COSM4014460 ERCC6 c.197C>T p.P66L Substitution - Missense Stomach COSM4016199 TAF3 c.1714A>G p.T572A Substitution - Missense Stomach COSM4008809 ORC1 c.2381C>T p.T794M Substitution - Missense Stomach COSM4036872 RSF1 c.3610C>T p.R1204* Substitution - Nonsense Stomach COSM4037734 KDM4D c.520G>T p.G174C Substitution - Missense Stomach COSM4042401 KMT2D c.2876C>T p.P959L Substitution - Missense Prostate COSM3986764 EP400 c.2246T>A p.I749N Substitution - Missense Kidney COSM4101442 SETD4 c.684C>T p.L228L Substitution - coding silent Stomach COSM4074024 SMARCA4 c.1190G>A p.R397Q Substitution - Missense Stomach COSM4129609 NCOR1 c.568C>T p.R190* Substitution - Nonsense Upper_aerodigestive_tract COSM4204461 SETD8 c.719A>C p.D240A Substitution - Missense Biliary_tract COSM4387292 MEN1 c.134A>T p.E45V Substitution - Missense Lung COSM4606013 KMT2C c.8535T>A p.N2845K Substitution - Missense Upper_aerodigestive_tract COSM4519460 PRDM9 c.1010G>A p.R337K Substitution - Missense Skin COSM4495380 SETD1B c.1168C>T p.L390L Substitution - coding silent Skin COSM4425515 PHC3 c.2103G>A p.V701V Substitution - coding silent Oesophagus COSM4579978 SMARCD2 c.798A>C p.G266G Substitution - coding silent Bone COSM4437447 PHF12 c.1019G>A p.R340H Substitution - Missense Oesophagus COSM4492398 PHF3 c.3973C>T p.P1325S Substitution - Missense Skin COSM4678893 DNMT3A c.1758C>T p.C586C Substitution - coding silent Large_intestine COSM4702486 KMT2C c.11125A>G p.M3709V Substitution - Missense Large_intestine COSM4649240 EYA1 c.1441C>T p.L481L Substitution - coding silent Large_intestine COSM4651707 HCFC1 c.3293C>T p.P1098L Substitution - Missense Large_intestine COSM4763652 TBL1XR1 c.1122G>T p.K374N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4803818 MUM1 c.849G>T p.A283A Substitution - coding silent Liver COSM4892650 SETBP1 c.1755G>A p.K585K Substitution - coding silent Skin COSM4836549 TAF1L c.2289G>A p.E763E Substitution - coding silent Cervix COSM4830585 PHF2 c.270C>T p.I90I Substitution - coding silent Cervix COSM4965710 BTAF1 c.5086G>A p.D1696N Substitution - Missense Pancreas COSM4974895 KMT2D c.11783G>A p.R3928Q Substitution - Missense Oesophagus COSM5021078 DOT1L c.3438G>A p.P1146P Substitution - coding silent Soft_tissue COSM5015368 SRCAP c.4421C>G p.T1474S Substitution - Missense Kidney COSM5051782 BAZ2A_ENST00000379441 c.3915G>A p.P1305P Substitution - coding silent Stomach COSM5084972 KDM4B c.1541C>A p.P514H Substitution - Missense Large_intestine COSM5037122 CHD6 c.3524-9C>G p.? Unknown Oesophagus COSM5370432 TRDMT1 c.616C>T p.Q206* Substitution - Nonsense Skin COSM5353179 ZMYM1 c.2391C>A p.N797K Substitution - Missense Large_intestine COSM5418843 AP001011.3_ENST00000320876 c.5304A>G p.Q1768Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5476095 PRMT1 c.598A>G p.M200V Substitution - Missense Large_intestine COSM5437523 SCML2 c.277T>G p.L93V Substitution - Missense Oesophagus COSM5639504 ING2 c.1A>G p.M1V Substitution - Missense Oesophagus COSM5668995 EP400 c.3562G>A p.V1188M Substitution - Missense Soft_tissue COSM5679756 NSD1 c.3359G>T p.G1120V Substitution - Missense Soft_tissue COSM5692857 PBRM1 c.3789G>C p.E1263D Substitution - Missense Soft_tissue COSM5663632 KMT2D c.9610G>A p.V3204M Substitution - Missense Soft_tissue COSM5715132 RSF1 c.4188C>A p.D1396E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5709772 CHD1 c.2056C>T p.L686F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5611424 BAP1 c.1303_1309delGGGCAAC p.G435fs*134 Deletion - Frameshift Pleura COSM5569481 CCDC101 c.666G>A p.T222T Substitution - coding silent Prostate COSM5788569 RBBP5 c.3G>T p.M1I Substitution - Missense Breast COSM5878930 TET2 c.729_730insA p.T245fs*9 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5949962 TRIM66 c.689G>A p.R230Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5906052 MYST2 c.1798C>T p.P600S Substitution - Missense Skin COSM5930238 SMARCA5 c.770C>A p.S257Y Substitution - Missense Skin COSM5947434 TRIM28 c.251T>A p.L84* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5982995 KIAA2026_ENST00000399933 c.2131G>C p.A711P Substitution - Missense Upper_aerodigestive_tract COSM5995589 PHF17 c.2374A>G p.S792G Substitution - Missense Prostate COSM5974079 EYA2 c.537C>T p.G179G Substitution - coding silent Upper_aerodigestive_tract COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM4167245 TET2 c.? p.H629fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM85908 IKZF1 c.? p.R111* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM97048 IDH2 c.? p.R140? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5734044 TRIM24 c.3088G>A p.D1030N Substitution - Missense Pancreas COSM1071542 CHD1 c.4721G>T p.R1574I Substitution - Missense Large_intestine COSM2995129 CTCF c.604delA p.T204fs*18 Deletion - Frameshift Stomach COSM1066311 NSD1 c.7391G>A p.R2464H Substitution - Missense Endometrium COSM1369005 CHD8 c.3376C>T p.Q1126* Substitution - Nonsense Large_intestine COSM1088199 HDAC9 c.3116C>A p.A1039D Substitution - Missense Endometrium COSM993745 DOT1L c.1406G>A p.R469Q Substitution - Missense Endometrium COSM721726 MSH6 c.2303C>A p.P768H Substitution - Missense Lung COSM1683534 MBD2 c.441_442insA p.R149fs*37 Insertion - Frameshift Large_intestine COSM1181713 ACTB c.859G>A p.V287M Substitution - Missense Large_intestine COSM5052622 ASH1L c.6241A>G p.K2081E Substitution - Missense Stomach COSM420625 WHSC1 c.841C>A p.L281I Substitution - Missense Urinary_tract COSM5497863 SHPRH c.469G>A p.G157S Substitution - Missense Biliary_tract COSM1496650 HDAC9 c.1569G>A p.A523A Substitution - coding silent Kidney COSM3614508 NSD1 c.5439C>T p.F1813F Substitution - coding silent Skin COSM4976639 HDAC5 c.1049G>A p.R350Q Substitution - Missense Oesophagus COSM5574965 SETD2 c.2409G>A p.W803* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5999242 EPC1 c.1127G>A p.S376N Substitution - Missense Prostate COSM727028 EP300 c.4241A>G p.Y1414C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4590380 KMT2C c.7443A>T p.R2481S Substitution - Missense Upper_aerodigestive_tract COSM3768204 HDAC3 c.893A>T p.Y298F Substitution - Missense Liver COSM52952 DNMT3A c.? p.E477* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1512173 ARID2 c.1426C>T p.Q476* Substitution - Nonsense Biliary_tract COSM1178877 CHD6 c.3566C>T p.T1189M Substitution - Missense Prostate COSM3843338 MSL3 c.766G>T p.E256* Substitution - Nonsense Breast COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Prostate COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM896915 ASH1L c.6479T>G p.L2160R Substitution - Missense Endometrium COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM353120 ATAD2B_ENST00000238789 c.3537A>G p.L1179L Substitution - coding silent Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM4094433 MSH6 c.1016C>A p.A339D Substitution - Missense Stomach COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM4847176 L3MBTL2 c.911C>T p.S304F Substitution - Missense Cervix COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3578966 SP100 c.1769C>T p.P590L Substitution - Missense Skin COSM4705940 NCOA1 c.3511C>A p.P1171T Substitution - Missense Large_intestine COSM3592027 KAT2B c.1657C>G p.R553G Substitution - Missense Skin COSM21764 CREBBP c.5271C>T p.G1757G Substitution - coding silent Skin COSM1722309 MYST3 c.5079A>C p.P1693P Substitution - coding silent Central_nervous_system COSM442968 MSH6 c.2076A>C p.K692N Substitution - Missense Breast COSM5511988 WHSC1 c.494C>T p.A165V Substitution - Missense Biliary_tract COSM4612375 BAHCC1 c.6729delC p.S2245fs*176 Deletion - Frameshift Large_intestine COSM41292 IDH1 c.? p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Bone COSM6015703 MGA c.8564C>T p.S2855F Substitution - Missense Skin COSM4488644 ATRX c.335C>T p.S112L Substitution - Missense Skin COSM1610659 BPTF c.3062A>G p.D1021G Substitution - Missense Liver COSM5032814 KAT5 c.944A>C p.K315T Substitution - Missense Oesophagus COSM1342905 KDM4A c.962T>C p.V321A Substitution - Missense Large_intestine COSM161291 GLYATL1 c.775G>A p.E259K Substitution - Missense Skin COSM293752 KDM6B c.3295delC p.K1101fs*3 Deletion - Frameshift Large_intestine COSM1720270 RING1 c.877G>A p.D293N Substitution - Missense Skin COSM1726258 CBX6 c.274A>T p.I92F Substitution - Missense Liver COSM1560994 RNF134 c.83_84insGCCTCC p.P28_V29insPP Insertion - In frame Central_nervous_system COSM150428 KMT2C c.2958A>G p.P986P Substitution - coding silent Soft_tissue COSM297468 SETD5_ENST00000402198 c.1305T>G p.I435M Substitution - Missense Large_intestine COSM3132332 WHSC1 c.2760G>A p.V920V Substitution - coding silent Upper_aerodigestive_tract COSM5674886 EP300 c.5305A>G p.K1769E Substitution - Missense Soft_tissue COSM4665053 BAHCC1 c.5511C>T p.F1837F Substitution - coding silent Large_intestine COSM1443747 RING1 c.511delG p.E173fs*14 Deletion - Frameshift Stomach COSM4169534 TET2 c.? p.E1879* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5601062 ATF2 c.1476C>T p.I492I Substitution - coding silent Skin COSM1706559 RNF17 c.1804G>A p.V602I Substitution - Missense Skin COSM5002878 BPTF c.543C>A p.D181E Substitution - Missense Pancreas COSM1049752 TET2 c.2038A>G p.R680G Substitution - Missense Endometrium COSM3957082 CHD2 c.4793C>T p.S1598L Substitution - Missense Lung COSM906833 SMYD3 c.636+2T>C p.? Unknown Endometrium COSM5431795 MECOM c.163G>C p.E55Q Substitution - Missense Oesophagus COSM43412 TET2 c.?_?del? p.?fs Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5708967 TET2 c.3974_3975insT p.L1326fs*13 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5624069 KDM4A c.1789C>A p.R597S Substitution - Missense Oesophagus COSM1707161 PRMT5 c.1543C>T p.P515S Substitution - Missense Skin COSM4014439 ERCC6 c.3774A>C p.K1258N Substitution - Missense Stomach COSM1621431 BAG6 c.1007A>T p.D336V Substitution - Missense Liver COSM1462673 UHRF2 c.695G>A p.R232Q Substitution - Missense Stomach COSM4842038 PHF17 c.711C>T p.I237I Substitution - coding silent Cervix COSM4453797 ACTR6 c.348A>T p.E116D Substitution - Missense Skin COSM4765260 PHF3 c.1729_1730insA p.T579fs*20 Insertion - Frameshift Stomach COSM4119153 PBRM1 c.2999G>A p.R1000Q Substitution - Missense Stomach COSM4516255 EYA1 c.1734_1735GG>AA p.D579N Substitution - Missense Skin COSM5157485 LBR c.1188+10G>T p.? Unknown Large_intestine COSM1644069 TAF1 c.4819-2A>G p.? Unknown Stomach COSM1268530 TRIM33 c.2676C>G p.V892V Substitution - coding silent Oesophagus COSM133576 ASXL1 c.2332C>T p.Q778* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM141207 TRRAP c.5175T>A p.N1725K Substitution - Missense Upper_aerodigestive_tract COSM4382890 ZMYM4 c.3395G>C p.G1132A Substitution - Missense Large_intestine COSM24901 HNF1A c.71_82del12 p.I27_L30delIQAL Deletion - In frame Liver COSM1341911 PHC2 c.241G>A p.A81T Substitution - Missense Large_intestine COSM268734 ATXN7 c.370G>A p.E124K Substitution - Missense Large_intestine COSM1342114 ZMYM1 c.1658A>G p.Y553C Substitution - Missense Large_intestine COSM3775261 SFMBT1 c.2600G>C p.*867S Nonstop extension Urinary_tract COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5490593 KMT2D c.14136G>T p.W4712C Substitution - Missense Biliary_tract COSM5514104 NCOA6 c.3425C>T p.S1142F Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3656869 TAF1L c.1177G>A p.E393K Substitution - Missense Skin COSM4961484 BAZ2A_ENST00000379441 c.2871C>T p.R957R Substitution - coding silent Liver COSM252979 CLOCK c.368delT p.L123fs*1 Deletion - Frameshift Ovary COSM1716184 EZH2 c.? p.A682G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4793343 SMARCA2 c.3401A>C p.N1134T Substitution - Missense Liver COSM5368911 ARID1A c.6143G>A p.W2048* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3906850 TAF1L c.1351A>C p.S451R Substitution - Missense Stomach COSM1311587 SIRT5 c.420G>A p.Q140Q Substitution - coding silent Urinary_tract COSM2002841 ATF7IP c.1827G>A p.A609A Substitution - coding silent Stomach COSM1323326 UBR7 c.564_594del31 p.C189fs*3 Deletion - Frameshift Ovary COSM1724305 SMYD3 c.423-5delT p.? Unknown Skin COSM96426 EP300 c.1623-(43)del3 p.? Unknown Lung COSM4605652 NSD1 c.5892+1G>T p.? Unknown Upper_aerodigestive_tract COSM254547 ARID1A c.4750C>T p.Q1584* Substitution - Nonsense Soft_tissue COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM463026 GATAD2B c.1373C>T p.T458I Substitution - Missense Kidney COSM263995 TCF20 c.1662G>T p.E554D Substitution - Missense Large_intestine COSM2153625 PRDM12 c.73G>A p.A25T Substitution - Missense Central_nervous_system COSM4133598 HDAC4 c.1269G>A p.P423P Substitution - coding silent Thyroid COSM5409744 CHD7 c.2076C>T p.P692P Substitution - coding silent Skin COSM4398696 PHF2 c.1421C>T p.S474F Substitution - Missense Skin COSM2803151 CHD3 c.4122C>T p.F1374F Substitution - coding silent Skin COSM1426219 TET2 c.4352G>A p.R1451Q Substitution - Missense Large_intestine COSM217240 EP300 c.1169T>G p.V390G Substitution - Missense Liver COSM1617680 SETD2 c.2908T>G p.F970V Substitution - Missense Liver COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM376031 GTF3C1 c.3864G>T p.K1288N Substitution - Missense Lung COSM3826829 BRD8 c.2713G>A p.E905K Substitution - Missense Breast COSM5016544 CHD3 c.1958_1965delGGAGGGAC p.W653fs*4 Deletion - Frameshift Kidney COSM5762532 BAG6 c.1126G>A p.G376R Substitution - Missense Pancreas COSM4941722 CHD6 c.4521G>A p.R1507R Substitution - coding silent Liver COSM5902152 BRWD1 c.3859-4C>T p.? Unknown Skin COSM5469872 TDG c.423G>A p.P141P Substitution - coding silent Large_intestine COSM694487 SMARCC2 c.215C>T p.P72L Substitution - Missense Skin COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43488 TET2 c.4478_4478delA p.K1493fs*78 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM240233 INO80B c.439delG p.E147fs*40 Deletion - Frameshift Prostate COSM4801269 PRMT10 c.1433T>G p.M478R Substitution - Missense Liver COSM5549154 CDYL2 c.678G>A p.A226A Substitution - coding silent Prostate COSM4097543 ASXL1 c.1452G>C p.E484D Substitution - Missense Stomach COSM3533596 SIRT2 c.234A>G p.R78R Substitution - coding silent Skin COSM5948739 ACTB c.124-6T>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1719632 NCOA2 c.1506C>T p.I502I Substitution - coding silent Skin COSM1559373 HNF1A c.1545G>A p.T515T Substitution - coding silent Soft_tissue COSM996185 SIRT2 c.94G>A p.A32T Substitution - Missense Large_intestine COSM4569965 PRDM15 c.2211T>A p.V737V Substitution - coding silent Skin COSM1465246 ZBTB33 c.563_564insTGA p.D194_V195insD Insertion - In frame Central_nervous_system COSM1377857 CREBBP c.1942-1G>T p.? Unknown Large_intestine COSM5964066 ADNP c.2325C>G p.F775L Substitution - Missense Breast COSM4807347 INOC1 c.1114G>T p.D372Y Substitution - Missense Pancreas COSM41906 TET2 c.3623_3623delA p.K1208fs*18 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1614599 HDAC4 c.1751G>T p.S584I Substitution - Missense Liver COSM3467587 MPHOSPH8 c.1282G>A p.E428K Substitution - Missense Skin COSM3578876 SP140_ENST00000392045 c.244C>T p.Q82* Substitution - Nonsense Skin COSM3548768 DIDO1 c.6380G>A p.R2127Q Substitution - Missense Skin COSM5967143 ARID1A c.3565_3584del20 p.D1189fs*1 Deletion - Frameshift Salivary_gland COSM150424 KMT2C c.5068A>C p.R1690R Substitution - coding silent Soft_tissue COSM3637059 HDAC9 c.1779T>G p.A593A Substitution - coding silent Skin COSM5569303 KIAA2026_ENST00000399933 c.5234C>T p.T1745M Substitution - Missense Prostate COSM1436283 NSD1 c.6430G>A p.A2144T Substitution - Missense Large_intestine COSM5832509 ACTA1 c.659_660delAC p.Y220fs*68 Deletion - Frameshift Breast COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4603233 DIDO1 c.4878_4879insC p.A1627fs*53 Insertion - Frameshift Upper_aerodigestive_tract COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM907700 ARID1A c.2275A>G p.M759V Substitution - Missense Endometrium COSM681943 RERE c.3951G>T p.R1317R Substitution - coding silent Lung COSM3413103 PRDM14 c.792A>G p.P264P Substitution - coding silent Central_nervous_system COSM3467865 RNF17 c.506G>A p.G169E Substitution - Missense Skin COSM1131647 KMT2C c.2755G>C p.V919L Substitution - Missense Central_nervous_system COSM1099538 ASH2L c.1447G>A p.G483R Substitution - Missense Endometrium COSM4866909 CHD4 c.5360A>G p.K1787R Substitution - Missense Endometrium COSM70168 CHD5 c.3499A>G p.M1167V Substitution - Missense Ovary COSM1614968 SMEK2 c.843T>A p.S281S Substitution - coding silent Liver COSM5656406 BAP1 c.? p.R238fs*? Frameshift Pleura COSM1192805 NCOA7 c.202delA p.K70fs*7 Deletion - Frameshift Large_intestine COSM4461141 PRDM9 c.1193C>T p.S398L Substitution - Missense Skin COSM384914 CXXC1 c.7G>A p.G3R Substitution - Missense Lung COSM80923 BRPF1 c.1890G>T p.L630L Substitution - coding silent Ovary COSM3760322 TET2 c.5284A>G p.I1762V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6007392 SND1 c.1910G>C p.S637T Substitution - Missense Prostate COSM1331037 ELP3 c.1385G>A p.R462H Substitution - Missense Ovary COSM84432 ASXL3 c.1279T>C p.S427P Substitution - Missense Pancreas COSM294698 PHF16 c.2106C>A p.G702G Substitution - coding silent Large_intestine COSM3632983 SND1 c.429-1G>T p.? Unknown Skin COSM992 SMARCB1 c.472C>T p.R158* Substitution - Nonsense Central_nervous_system COSM4167627 CHD4 c.3421G>C p.V1141L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3371142 SMARCA4 c.2789C>T p.P930L Substitution - Missense Thyroid COSM1109534 UHRF2 c.2195T>C p.M732T Substitution - Missense Endometrium COSM229014 PRDM1 c.1403G>A p.S468N Substitution - Missense Skin COSM5689398 BAZ1A c.189delG p.Y64fs*22 Deletion - Frameshift Soft_tissue COSM3359764 KMT2D c.3306A>G p.L1102L Substitution - coding silent Kidney COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM86973 IKZF1 c.161-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5991515 SMARCB1 c.1132C>T p.L378F Substitution - Missense Skin COSM1334444 TDRD10 c.462G>T p.E154D Substitution - Missense Large_intestine COSM307326 BAZ2B c.550A>G p.I184V Substitution - Missense Liver COSM1211252 JARID2 c.2197C>T p.R733C Substitution - Missense Large_intestine COSM110731 BAP1 c.993_993delA p.K331fs*4 Deletion - Frameshift Eye COSM5985019 SRCAP c.1123C>T p.Q375* Substitution - Nonsense Upper_aerodigestive_tract COSM3789614 ACTA1 c.642C>G p.I214M Substitution - Missense Urinary_tract COSM5753787 KDM2A c.2035G>A p.D679N Substitution - Missense Large_intestine COSM4439030 SMYD3 c.148G>T p.V50F Substitution - Missense Oesophagus COSM4766173 TET2 c.5390_5390delT p.L1797fs*23 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM443635 ASXL1 c.2175A>G p.R725R Substitution - coding silent Breast COSM5977721 KMT2D c.8536C>T p.P2846S Substitution - Missense Central_nervous_system COSM358686 ARID2 c.3734A>G p.Q1245R Substitution - Missense Lung COSM4694875 KDM2A c.2501G>T p.R834L Substitution - Missense Large_intestine COSM302650 KMT2D c.3723delC p.Y1241fs*1 Deletion - Frameshift Central_nervous_system COSM4444927 ACTR8 c.966G>A p.M322I Substitution - Missense Large_intestine COSM5422314 CHD6 c.7660C>G p.L2554V Substitution - Missense Prostate COSM264780 ZCWPW1 c.1769G>T p.R590I Substitution - Missense Large_intestine COSM4109800 HDAC6 c.1499A>G p.H500R Substitution - Missense Stomach COSM1034986 PHF21B c.1206G>T p.K402N Substitution - Missense Endometrium COSM3767320 FXR1 c.1291G>T p.D431Y Substitution - Missense Liver COSM1474590 EPC1 c.2495C>T p.A832V Substitution - Missense Large_intestine COSM3708114 IDH1 c.343A>G p.K115E Substitution - Missense Liver COSM2687855 NIPBL c.3125G>A p.S1042N Substitution - Missense Large_intestine COSM1710951 L3MBTL4 c.148G>A p.G50R Substitution - Missense Skin COSM5977570 ATRX c.2681C>T p.T894I Substitution - Missense Upper_aerodigestive_tract COSM918661 ERCC6 c.2552G>T p.W851L Substitution - Missense Endometrium COSM4046366 ZMYM2 c.3277C>T p.L1093L Substitution - coding silent Stomach COSM4466263 CREBBP c.1424C>T p.P475L Substitution - Missense Skin COSM3091722 SMARCA2 c.2041G>A p.A681T Substitution - Missense Large_intestine COSM4162076 HDAC9 c.2315A>G p.E772G Substitution - Missense Thyroid COSM1440971 SHPRH c.1371delA p.G458fs*26 Deletion - Frameshift Large_intestine COSM1456468 ELP3 c.771C>T p.D257D Substitution - coding silent Large_intestine COSM1180918 ASXL1 c.1927delG p.G645fs*58 Deletion - Frameshift Biliary_tract COSM1111301 PHF2 c.2080A>T p.R694W Substitution - Missense Endometrium COSM383536 KMT2C c.7615C>T p.Q2539* Substitution - Nonsense Cervix COSM75603 NIPBL c.5069A>G p.K1690R Substitution - Missense Ovary COSM3817652 GTF3C1 c.4905G>A p.V1635V Substitution - coding silent Cervix COSM1040969 MECOM c.686C>G p.T229R Substitution - Missense Endometrium COSM1286523 NCOA2 c.378C>T p.F126F Substitution - coding silent Autonomic_ganglia COSM4141762 PRDM9 c.1800G>C p.R600S Substitution - Missense Ovary COSM1753243 DHX30 c.1018G>A p.E340K Substitution - Missense Urinary_tract COSM231568 DNMT3A c.2578T>C p.W860R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5891646 ZMYM1 c.1793G>A p.G598E Substitution - Missense Skin COSM5379611 SMYD2 c.251C>T p.P84L Substitution - Missense Skin COSM2965365 KDM6A c.1980C>A p.L660L Substitution - coding silent Upper_aerodigestive_tract COSM3443975 KMT2A c.5386C>T p.P1796S Substitution - Missense Skin COSM88749 CREBBP c.4336C>T p.R1446C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1582896 HDAC6 c.2892G>T p.Q964H Substitution - Missense Meninges COSM5599122 BAP1 c.819C>T p.T273T Substitution - coding silent Skin COSM136790 KAT6B c.4466C>T p.P1489L Substitution - Missense Skin COSM4260242 CREBBP c.4548C>G p.I1516M Substitution - Missense Upper_aerodigestive_tract COSM5731044 SETD2 c.3625_3627delAAG p.K1209delK Deletion - In frame Breast COSM13394 MSH6 c.3261_3262insC p.F1088fs*5 Insertion - Frameshift Stomach COSM3746280 SETD1B c.2002-8T>C p.? Unknown Liver COSM985858 BAHCC1 c.6553C>T p.R2185W Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1091556 BAZ1B c.3722G>A p.R1241H Substitution - Missense Endometrium COSM3662945 TIF1 c.2479C>G p.P827A Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3642826 TRRAP c.9054C>T p.I3018I Substitution - coding silent Skin COSM5732050 NCOA3 c.2890C>T p.R964W Substitution - Missense Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4701385 MECOM c.1832_1833insG p.G614fs*37 Insertion - Frameshift Large_intestine COSM3928853 JHDM1D c.1365T>G p.I455M Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3991633 DNMT3B c.609G>A p.P203P Substitution - coding silent Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM345306 ING5 c.322G>A p.E108K Substitution - Missense Lung COSM3726919 PHF12 c.824T>C p.F275S Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3767306 TBL1XR1 c.764A>G p.D255G Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1125877 BRWD3 c.1166G>T p.R389I Substitution - Missense Endometrium COSM209777 IDH1 c.97C>T p.P33S Substitution - Missense Skin COSM920707 TAF3 c.2500G>A p.A834T Substitution - Missense Endometrium COSM1045453 SETD2 c.3769-1G>T p.? Unknown Endometrium COSM1732080 PBRM1 c.2327delT p.L776fs*2 Deletion - Frameshift Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM446299 KAT2B c.1155C>A p.I385I Substitution - coding silent Breast COSM1686518 PHF3 c.3997+1G>A p.? Unknown Skin COSM1659441 PBRM1 c.438delA p.T147fs*27 Deletion - Frameshift Kidney COSM4383861 TET2 c.2632delC p.L878fs*43 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1173400 ELP3 c.1411A>G p.I471V Substitution - Missense Oesophagus COSM4591511 CBX4 c.670G>A p.G224S Substitution - Missense Upper_aerodigestive_tract COSM3424402 ZBTB33 c.1311C>T p.I437I Substitution - coding silent Large_intestine COSM2150780 NCOR1 c.5152C>T p.R1718W Substitution - Missense Central_nervous_system COSM3723785 TAF1L c.2895T>G p.C965W Substitution - Missense Upper_aerodigestive_tract COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5817303 PHF14 c.748G>A p.E250K Substitution - Missense Liver COSM4411410 EPC1 c.2204T>A p.L735Q Substitution - Missense Kidney COSM1192028 ATRX c.3003delA p.V1002fs*1 Deletion - Frameshift Central_nervous_system COSM2848402 GABRG1 c.603C>T p.S201S Substitution - coding silent Skin COSM1124862 TAF1 c.124C>A p.L42I Substitution - Missense Endometrium COSM4589545 ATRX c.4377_4379delGGA p.E1464delE Deletion - In frame Bone COSM48881 MSH6 c.1852C>T p.Q618* Substitution - Nonsense Lung COSM1496902 MYST3 c.5333C>A p.T1778N Substitution - Missense Kidney COSM3854575 PRDM9 c.2299C>T p.Q767* Substitution - Nonsense Stomach COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM40583 SETDB2 c.956C>T p.P319L Substitution - Missense Central_nervous_system COSM85091 KMT2C c.13071G>A p.W4357* Substitution - Nonsense Pancreas COSM85911 IKZF1 c.161-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM50881 BAP1 c.781C>T p.Q261* Substitution - Nonsense Eye COSM76840 TRRAP c.10258G>C p.E3420Q Substitution - Missense Ovary COSM96484 TET2 c.3430G>A p.E1144K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM94148 DUSP1 c.856G>C p.E286Q Substitution - Missense Breast COSM122922 EYA3 c.533C>G p.S178C Substitution - Missense Upper_aerodigestive_tract COSM159176 ARID1B c.3390C>G p.Y1130* Substitution - Nonsense Breast COSM165658 ZBTB38 c.1228G>A p.E410K Substitution - Missense Breast COSM215751 SMARCA4 c.3403C>T p.R1135W Substitution - Missense Central_nervous_system COSM215752 SMARCA4 c.3694G>A p.G1232S Substitution - Missense Endometrium COSM234790 HDAC10 c.750C>T p.A250A Substitution - coding silent Skin COSM276732 PHIP c.2742A>C p.K914N Substitution - Missense Large_intestine COSM315856 TDRD3 c.1713G>A p.K571K Substitution - coding silent Soft_tissue COSM358466 MGMT c.314T>C p.V105A Substitution - Missense Lung COSM360329 TRRAP c.2524G>T p.V842F Substitution - Missense Lung COSM456029 KDM4C c.362G>A p.R121H Substitution - Missense Breast COSM463106 ASH1L c.7681G>T p.D2561Y Substitution - Missense Kidney COSM975882 NCOR1 c.2652C>T p.S884S Substitution - coding silent Endometrium COSM539538 SFMBT2 c.328G>A p.G110S Substitution - Missense Stomach COSM916613 SUV39H2 c.587G>A p.R196Q Substitution - Missense Breast COSM1023490 KDM3A c.561C>A p.D187E Substitution - Missense Upper_aerodigestive_tract COSM1027514 ZMYND8 c.3195G>A p.S1065S Substitution - coding silent Skin COSM937504 ATF7IP c.1902G>A p.R634R Substitution - coding silent Endometrium COSM752348 TDRD7 c.1710C>G p.L570L Substitution - coding silent Lung COSM921718 HELLS c.1971C>T p.N657N Substitution - coding silent Endometrium COSM744879 ING3 c.593A>G p.N198S Substitution - Missense Liver COSM707753 KDM6B c.1941C>T p.G647G Substitution - coding silent Lung COSM697543 CHD8 c.7054C>T p.R2352* Substitution - Nonsense Lung COSM934206 TDG c.686T>C p.F229S Substitution - Missense Endometrium COSM993836 DOT1L c.2169C>T p.C723C Substitution - coding silent Endometrium COSM1602147 ARID1A c.3910G>T p.A1304S Substitution - Missense Liver COSM1035227 BRD1 c.2437G>T p.E813* Substitution - Nonsense Endometrium COSM1043291 KAT2B c.1331G>A p.R444Q Substitution - Missense Skin COSM1076448 HDGFL1 c.86T>C p.I29T Substitution - Missense Endometrium COSM971440 CHD9 c.8449A>G p.I2817V Substitution - Missense Endometrium COSM1108528 KIAA1045 c.107G>A p.R36H Substitution - Missense Large_intestine COSM1127464 TRIM33 c.861C>T p.F287F Substitution - coding silent Prostate COSM1230115 TP53BP1 c.3416C>A p.P1139H Substitution - Missense Large_intestine COSM1233561 ZMYND8 c.1124G>T p.R375M Substitution - Missense Large_intestine COSM1209387 HDAC5 c.1427G>A p.R476H Substitution - Missense Large_intestine COSM1196778 BAZ2A_ENST00000379441 c.4328G>A p.R1443Q Substitution - Missense Lung COSM1189286 SETD6 c.1130C>T p.T377M Substitution - Missense Lung COSM1289714 EP400 c.8181_8182insCAG p.Q2748_T2749insQ Insertion - In frame Large_intestine COSM1319427 SMC1A c.1757G>A p.R586Q Substitution - Missense Kidney COSM1319428 SMC1A c.2447G>A p.R816H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1387349 CHD3 c.1549_1550insG p.E519fs*68 Insertion - Frameshift Large_intestine COSM1363131 BAZ2A_ENST00000379441 c.3721_3726delCTTCAG p.L1241_Q1242delLQ Deletion - In frame Large_intestine COSM1622432 JHDM1D c.2437A>G p.T813A Substitution - Missense Liver COSM1622394 TIF1 c.329C>T p.S110L Substitution - Missense Liver COSM1673699 KMT2C c.11708C>T p.S3903F Substitution - Missense Skin COSM1667518 DMAP1 c.958G>A p.V320I Substitution - Missense Large_intestine COSM1676246 SUV420H1 c.2095C>T p.R699* Substitution - Nonsense Large_intestine COSM1642691 NSD1 c.1968_1969delAG p.E657fs*2 Deletion - Frameshift Stomach COSM1659160 ARID1A c.2402delG p.G801fs*32 Deletion - Frameshift Large_intestine COSM1749560 SRCAP c.1399G>T p.E467* Substitution - Nonsense Urinary_tract COSM1756576 KDM6A c.3685C>T p.Q1229* Substitution - Nonsense Urinary_tract COSM42037 TET2 c.4210C>T p.R1404* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1724237 PRMT8 c.91T>C p.S31P Substitution - Missense Skin COSM2738952 NCOR1 c.5910C>T p.S1970S Substitution - coding silent Large_intestine COSM2777487 KIAA2026_ENST00000399933 c.5112C>T p.L1704L Substitution - coding silent Large_intestine COSM2960103 ASH2L c.1163G>A p.R388Q Substitution - Missense Large_intestine COSM2976795 PHF23 c.688delG p.D230fs*37 Deletion - Frameshift Large_intestine COSM3205846 ACTL6A c.264delA p.N90fs*47 Deletion - Frameshift Large_intestine COSM3296117 MBD5 c.1120G>A p.V374I Substitution - Missense Upper_aerodigestive_tract COSM3296199 MBD5 c.3140C>G p.T1047S Substitution - Missense Large_intestine COSM3386087 HDAC1 c.162T>C p.Y54Y Substitution - coding silent Pancreas COSM3488902 ZMYM4 c.4150C>T p.L1384F Substitution - Missense Skin COSM3509076 MYST1 c.1048G>A p.E350K Substitution - Missense Skin COSM3418913 KDM1A c.2233G>A p.D745N Substitution - Missense Liver COSM3435835 PWWP2B c.844C>T p.P282S Substitution - Missense Skin COSM3599592 PRDM5 c.185G>A p.G62E Substitution - Missense Skin COSM3596991 ATXN7 c.1323A>T p.V441V Substitution - coding silent Skin COSM3545305 DNMT3B c.719C>T p.P240L Substitution - Missense Skin COSM3650683 NCOA2 c.2728C>T p.P910S Substitution - Missense Skin COSM3685799 KIAA2026_ENST00000399933 c.5355A>C p.S1785S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3705046 ASH1L c.8120+8C>T p.? Unknown Liver COSM3713324 ADNP c.255C>G p.F85L Substitution - Missense Upper_aerodigestive_tract COSM3734832 GLYR1 c.1630delA p.M544fs*>10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3735206 SP140_ENST00000392045 c.1490G>A p.R497K Substitution - Missense Skin COSM3755856 ZBTB4 c.1682A>G p.N561S Substitution - Missense Liver COSM3771846 NCOA1 c.1771A>G p.I591V Substitution - Missense Pancreas COSM3786028 PRDM14 c.1257C>T p.L419L Substitution - coding silent Pancreas COSM3816028 MGA c.1812G>A p.Q604Q Substitution - coding silent Breast COSM3802114 ASH1L c.3677C>A p.S1226Y Substitution - Missense Breast COSM3873174 DAXX c.284C>T p.A95V Substitution - Missense Stomach COSM3879547 KMT2C c.9351C>T p.G3117G Substitution - coding silent Stomach COSM3889030 CDYL2 c.936T>A p.D312E Substitution - Missense Skin COSM3965259 KDM6A c.3764G>T p.R1255L Substitution - Missense Lung COSM4016195 TAF3 c.607G>A p.D203N Substitution - Missense Stomach COSM4043886 MBD6 c.1079G>A p.R360H Substitution - Missense Stomach COSM3986973 KMT2D c.6508G>A p.V2170I Substitution - Missense Large_intestine COSM3987444 TDRD3 c.391G>A p.E131K Substitution - Missense Kidney COSM3997960 EPC1 c.10C>T p.L4L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4116585 KAT2B c.430+2T>C p.? Unknown Stomach COSM4161255 TDRD6 c.599T>G p.V200G Substitution - Missense Upper_aerodigestive_tract COSM4165494 ERCC6 c.896C>T p.P299L Substitution - Missense Kidney COSM4164208 KMT2C c.11091G>T p.Q3697H Substitution - Missense Ovary COSM42076 TET2 c.5554C>T p.Q1852* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4387089 L3MBTL3 c.57G>A p.M19I Substitution - Missense Lung COSM4384352 KMT2C c.2214C>G p.D738E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4598330 BAHCC1 c.5215A>C p.T1739P Substitution - Missense Upper_aerodigestive_tract COSM4599905 MTF2 c.193_196delACTA p.T65fs*4 Deletion - Frameshift Upper_aerodigestive_tract COSM4430707 NCOA3 c.3188A>G p.N1063S Substitution - Missense Oesophagus COSM4492735 BAZ2A_ENST00000379441 c.4028C>T p.S1343F Substitution - Missense Skin COSM4432549 PHF3 c.4890C>G p.S1630R Substitution - Missense Oesophagus COSM4506307 PCGF1 c.680C>A p.S227Y Substitution - Missense Skin COSM4460541 KDM4B c.1170C>T p.F390F Substitution - coding silent Skin COSM4473076 CTCF c.1826C>T p.S609F Substitution - Missense Skin COSM4717902 PRMT8 c.552C>T p.S184S Substitution - coding silent Large_intestine COSM4717475 PRDM14 c.823G>A p.A275T Substitution - Missense Large_intestine COSM4671962 CHD2 c.360G>A p.S120S Substitution - coding silent Large_intestine COSM4765266 CTCF c.604_605insA p.T204fs*26 Insertion - Frameshift Biliary_tract COSM4672107 CHD9 c.1628G>A p.R543H Substitution - Missense Large_intestine COSM4606367 PHF6 c.385C>T p.R129* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4766063 PBRM1 c.397G>A p.E133K Substitution - Missense Soft_tissue COSM4774901 IDH2 c.488G>A p.G163D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4786618 BRD3 c.206A>G p.N69S Substitution - Missense Large_intestine COSM4856840 NSD1 c.3417T>A p.S1139S Substitution - coding silent Cervix COSM4850206 MGA c.514C>T p.Q172* Substitution - Nonsense Cervix COSM4961357 NCOA6 c.901G>A p.G301R Substitution - Missense Liver COSM4958434 SRCAP c.2409C>A p.F803L Substitution - Missense Liver COSM4990215 EP400 c.8273C>T p.P2758L Substitution - Missense Skin COSM5001990 ATRX c.5579A>G p.N1860S Substitution - Missense Large_intestine COSM4997242 CHD2 c.2353-123_2360del131 p.? Unknown Pituitary COSM5019785 NSD1 c.3705T>C p.N1235N Substitution - coding silent Soft_tissue COSM5346046 HDAC8 c.217G>A p.D73N Substitution - Missense Large_intestine COSM5360875 KDM4D c.1430C>T p.A477V Substitution - Missense Large_intestine COSM5505462 PRDM15 c.570G>T p.G190G Substitution - coding silent Biliary_tract COSM5484855 TDRD6 c.300C>T p.D100D Substitution - coding silent Large_intestine COSM5439599 PHF3 c.2332G>A p.E778K Substitution - Missense Oesophagus COSM5458374 KDM5A c.3967C>T p.R1323W Substitution - Missense Large_intestine COSM5461481 MLL5 c.2272C>G p.L758V Substitution - Missense Large_intestine COSM5716075 PRDM10 c.254G>A p.G85D Substitution - Missense Skin COSM5600202 PHF21B c.438G>A p.A146A Substitution - coding silent Skin COSM5600370 RNF17 c.344A>G p.K115R Substitution - Missense Skin COSM5568283 ACTL6B c.1227C>T p.S409S Substitution - coding silent Prostate COSM5556130 CREBBP c.2688G>A p.G896G Substitution - coding silent Prostate COSM5566888 KAT2A c.2413C>T p.R805C Substitution - Missense Prostate COSM5548542 KMT2D c.3005C>T p.A1002V Substitution - Missense Prostate COSM5944158 EP300 c.5873C>T p.P1958L Substitution - Missense Bone COSM5944984 DNMT3A c.920C>T p.P307L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5979256 NCOA7 c.28C>T p.R10W Substitution - Missense Upper_aerodigestive_tract COSM5995137 PBRM1 c.4176G>A p.E1392E Substitution - coding silent Prostate COSM6001645 TP53BP1 c.5488T>G p.W1830G Substitution - Missense Prostate COSM6018865 KDM5D c.4129G>C p.E1377Q Substitution - Missense Skin COSM6016921 AP001011.3_ENST00000320876 c.3329C>T p.P1110L Substitution - Missense Skin COSM5983924 EED c.151G>A p.E51K Substitution - Missense Upper_aerodigestive_tract COSM6015647 MTA1 c.1076+7G>T p.? Unknown Skin COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM4766092 TET2 c.3499_3501delAGG p.R1167del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM132969 ASXL1 c.? p.L823* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3727849 TRIM66 c.1888C>G p.L630V Substitution - Missense Upper_aerodigestive_tract COSM5988493 HNF1A c.1392C>T p.F464F Substitution - coding silent Liver COSM249703 GLYR1 c.732+1G>A p.? Unknown Kidney COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM4073758 DNMT1 c.633A>G p.E211E Substitution - coding silent Stomach COSM3053498 SMEK2 c.419A>G p.N140S Substitution - Missense Upper_aerodigestive_tract COSM144587 DNMT3A c.? p.I705S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM94716 MLLT6 c.2245C>T p.R749W Substitution - Missense Breast COSM5021863 GLYR1 c.1620T>C p.S540S Substitution - coding silent Bone COSM1604980 MEN1 c.655-1G>A p.? Unknown Liver COSM5347084 ARID1A c.3740C>T p.S1247F Substitution - Missense Endometrium COSM3656857 TAF1L c.2338G>A p.D780N Substitution - Missense Skin COSM5617558 PHF16 c.1011C>A p.T337T Substitution - coding silent Lung COSM3090554 PSIP1 c.753_754insA p.E252fs*7 Insertion - Frameshift Large_intestine COSM924951 PRDM10 c.1456C>T p.Q486* Substitution - Nonsense Endometrium COSM3636497 KMT2C c.6827C>T p.P2276L Substitution - Missense Skin COSM3578882 SP140_ENST00000392045 c.343T>C p.F115L Substitution - Missense Skin COSM3529214 MUM1 c.662A>G p.N221S Substitution - Missense Skin COSM1079910 TDRD6 c.4671G>T p.Q1557H Substitution - Missense Endometrium COSM683254 TDRD1 c.301G>A p.G101R Substitution - Missense Skin COSM3474698 TDRD10 c.586G>C p.A196P Substitution - Missense Skin COSM230133 KMT2C c.1173C>A p.C391* Substitution - Nonsense Skin COSM1687032 PRDM2 c.4598A>G p.K1533R Substitution - Missense Skin COSM1161958 KDM5C c.2062-2A>T p.? Unknown Kidney COSM52779 PBRM1 c.2335C>T p.Q779* Substitution - Nonsense Biliary_tract COSM4049561 MTA1 c.1464G>T p.E488D Substitution - Missense Stomach COSM296860 RAI1 c.3096_3097insC p.Q1035fs*31 Insertion - Frameshift Large_intestine COSM1741096 ZBTB33 c.569_570insNTG p.D190>XC Complex - insertion inframe Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4543227 AIRE c.333G>A p.K111K Substitution - coding silent Skin COSM942085 MBD6 c.1431C>A p.A477A Substitution - coding silent Endometrium COSM1707871 SETD3 c.1678C>T p.P560S Substitution - Missense Skin COSM5968607 TRRAP c.8493C>A p.P2831P Substitution - coding silent Genital_tract COSM317184 CREBBP c.4471_4473delCAA p.Q1491delQ Deletion - In frame Lung COSM5945501 KDM6A c.181A>T p.R61* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3770262 BRPF3 c.731A>G p.Y244C Substitution - Missense Soft_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3840738 ASXL1 c.3864T>C p.G1288G Substitution - coding silent Breast COSM3969118 TP53BP1 c.5575A>G p.I1859V Substitution - Missense Central_nervous_system COSM3764561 CREBBP c.3599G>A p.C1200Y Substitution - Missense Central_nervous_system COSM431499 SMARCC2 c.1624G>C p.V542L Substitution - Missense Breast COSM694335 SMARCD1 c.610G>A p.E204K Substitution - Missense Lung COSM3205529 TBL1XR1 c.1184A>G p.Y395C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM683846 SUV39H2 c.507C>A p.C169* Substitution - Nonsense Lung COSM43417 TET2 c.2746C>T p.Q916* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5757571 ATRX c.1961G>A p.R654Q Substitution - Missense Large_intestine COSM1240714 ZMYM4 c.1558G>A p.A520T Substitution - Missense Oesophagus COSM4847683 DAXX c.2105C>T p.S702F Substitution - Missense Cervix COSM3563519 ATRX c.2272C>T p.H758Y Substitution - Missense Skin COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM4586873 PHF3 c.4363A>C p.T1455P Substitution - Missense Bone COSM5638448 SETD3 c.611A>G p.H204R Substitution - Missense Oesophagus COSM1602395 SCMH1 c.65C>A p.P22H Substitution - Missense Liver COSM450779 JARID2 c.3279G>A p.L1093L Substitution - coding silent Large_intestine COSM1103003 TDRD7 c.789G>A p.E263E Substitution - coding silent Endometrium COSM240332 KDM6A c.2443G>A p.V815I Substitution - Missense Prostate COSM3567458 MBD5 c.3134C>T p.P1045L Substitution - Missense Skin COSM4383529 DNMT3A c.2546C>T p.P849L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5347229 ARID1A c.?_?del? p.F1103fs*? Deletion - Frameshift Endometrium COSM975866 NCOR1 c.5223C>T p.G1741G Substitution - coding silent Endometrium COSM1965072 KAT6B c.670G>T p.E224* Substitution - Nonsense Large_intestine COSM1756619 SMC1A c.1254+1G>A p.? Unknown Urinary_tract COSM5516284 RUVBL1 c.757_758insG p.Q254fs*27 Insertion - Frameshift Biliary_tract COSM5669551 CHD8 c.3503A>G p.Y1168C Substitution - Missense Soft_tissue COSM3488217 PRDM16 c.1469C>T p.P490L Substitution - Missense Skin COSM1416935 BRD1 c.2404C>T p.R802W Substitution - Missense Large_intestine COSM1489358 CHD7 c.6571G>C p.E2191Q Substitution - Missense Breast COSM935904 SIRT4 c.146G>A p.R49H Substitution - Missense Endometrium COSM4746571 CHD4 c.2719_2730del12 p.N907_E910delNNLE Deletion - In frame Stomach COSM4591406 DIDO1 c.4867G>A p.E1623K Substitution - Missense Upper_aerodigestive_tract COSM4910424 BAZ2A_ENST00000379441 c.5138T>C p.V1713A Substitution - Missense Liver COSM1745231 SMEK1 c.1124delC p.T375fs*44 Deletion - Frameshift Urinary_tract COSM5025217 ARID1A c.3162_3163insT p.Y1055fs*50 Insertion - Frameshift Breast COSM1483582 PHF20 c.689A>C p.E230A Substitution - Missense Breast COSM907720 ARID1A c.3972C>A p.Y1324* Substitution - Nonsense Lung COSM326564 SRCAP c.485C>T p.A162V Substitution - Missense Lung COSM1030935 PRDM15 c.3690C>T p.C1230C Substitution - coding silent Large_intestine COSM5927233 MBD5 c.2464C>T p.P822S Substitution - Missense Skin COSM1688031 BRDT c.1646C>T p.P549L Substitution - Missense Skin COSM20740 TAF1L c.1897C>T p.Q633* Substitution - Nonsense Ovary COSM3600226 PHF17 c.80C>T p.S27F Substitution - Missense Skin COSM5366854 SMARCA1 c.2825G>T p.R942I Substitution - Missense Large_intestine COSM4648070 BPTF c.6918A>G p.S2306S Substitution - coding silent Large_intestine COSM4855331 BRWD3 c.4565C>T p.S1522L Substitution - Missense Cervix COSM693911 ARID2 c.493C>T p.L165L Substitution - coding silent Lung COSM4071911 ASXL3 c.2413A>C p.T805P Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1707264 BAZ1A c.1768C>T p.R590C Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4054479 INOC1 c.604C>T p.R202W Substitution - Missense Soft_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM373792 SRCAP c.1308G>C p.L436F Substitution - Missense Lung COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM76698 TDG c.604G>T p.D202Y Substitution - Missense Ovary COSM349029 MGA c.2578A>G p.K860E Substitution - Missense Lung COSM1034988 PHF21B c.731G>A p.S244N Substitution - Missense Endometrium COSM1107702 SMARCA2 c.1277C>A p.A426D Substitution - Missense Endometrium COSM237707 MBD2 c.1179G>A p.S393S Substitution - coding silent Prostate COSM3142290 CHD1 c.2089C>A p.R697R Substitution - coding silent Upper_aerodigestive_tract COSM987392 AP001011.3_ENST00000320876 c.2280G>T p.E760D Substitution - Missense Lung COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4390789 BAZ2B c.4003G>A p.E1335K Substitution - Missense Breast COSM3922424 MLL5 c.284C>T p.P95L Substitution - Missense Breast COSM970594 CREBBP c.2573C>T p.P858L Substitution - Missense Endometrium COSM4152232 SMARCA2 c.2826A>C p.L942F Substitution - Missense Ovary COSM1221886 PRDM2 c.127G>A p.G43S Substitution - Missense Large_intestine COSM449381 NSD1 c.252A>G p.V84V Substitution - coding silent Breast COSM5990078 ARID2 c.914delT p.L305fs*23 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1738879 BAP1 c.1825A>G p.S609G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4023064 ASH1L c.2148A>C p.K716N Substitution - Missense Stomach COSM2965308 KDM6A c.477T>C p.V159V Substitution - coding silent Upper_aerodigestive_tract COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM4053102 UBR7 c.1006G>A p.D336N Substitution - Missense Large_intestine COSM3858494 SIRT5 c.804C>T p.G268G Substitution - coding silent Stomach COSM5491849 PRMT10 c.1143T>G p.L381L Substitution - coding silent Biliary_tract COSM1377596 MYST1 c.702_703insC p.G237fs*16 Insertion - Frameshift Large_intestine COSM4679237 DPF1 c.336G>A p.P112P Substitution - coding silent Large_intestine COSM5504745 PHF21B c.63C>T p.D21D Substitution - coding silent Biliary_tract COSM5730603 SETD2 c.3512_3514delAAG p.E1171delE Deletion - In frame Breast COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3527182 L3MBTL4 c.122G>A p.S41N Substitution - Missense Skin COSM52807 PBRM1 c.694A>C p.T232P Substitution - Missense Kidney COSM4139825 ZBTB4 c.1065T>C p.H355H Substitution - coding silent Ovary COSM5712768 CHD3 c.5054G>T p.R1685L Substitution - Missense Central_nervous_system COSM5695248 ZBTB33 c.339A>T p.I113I Substitution - coding silent Soft_tissue COSM5449319 KDM4B c.677-6C>T p.? Unknown Large_intestine COSM3746460 KDM6B c.751T>C p.L251L Substitution - coding silent Liver COSM1416477 EP300 c.3731T>G p.F1244C Substitution - Missense Large_intestine COSM3563113 ZMYM3 c.410C>T p.P137L Substitution - Missense Skin COSM1445556 PHF3 c.4202C>A p.S1401Y Substitution - Missense Large_intestine COSM423083 PBRM1 c.2091_2101del11 p.Y697fs*1 Deletion - Frameshift Kidney COSM5500588 ARID1A c.3540-18_3552del31 p.? Unknown Biliary_tract COSM4588689 EHMT1 c.3405C>T p.D1135D Substitution - coding silent Bone COSM1447278 PHF14 c.1947T>C p.N649N Substitution - coding silent Large_intestine COSM4092789 HDAC4 c.1029T>C p.L343L Substitution - coding silent Stomach COSM1643442 TRRAP c.6876G>A p.A2292A Substitution - coding silent Stomach COSM3608881 BRD8 c.1988C>T p.P663L Substitution - Missense Skin COSM3578886 SP140_ENST00000392045 c.452T>G p.L151* Substitution - Nonsense Skin COSM273490 ZCWPW2 c.801A>C p.E267D Substitution - Missense Stomach COSM4519724 RAG2 c.1024G>A p.G342R Substitution - Missense Skin COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4385888 PYGO1 c.50-2_50-1insT p.? Unknown Large_intestine COSM42016 TET2 c.4393C>T p.R1465* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1250608 DPF2 c.454C>T p.R152* Substitution - Nonsense Oesophagus COSM3474518 GATAD2B c.28C>T p.R10C Substitution - Missense Skin COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4909559 INTS12 c.1366G>T p.A456S Substitution - Missense Liver COSM1123274 PHF8 c.1140C>T p.R380R Substitution - coding silent Endometrium COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1122192 HDAC6 c.1728C>T p.F576F Substitution - coding silent Endometrium COSM4663256 ARID1B c.4854G>A p.A1618A Substitution - coding silent Large_intestine COSM5989986 ASXL1 c.1636C>T p.Q546* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3844866 HDAC6 c.2726A>T p.Q909L Substitution - Missense Breast COSM3296200 MBD5 c.3209A>G p.Q1070R Substitution - Missense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM919615 SIRT1 c.1423G>T p.D475Y Substitution - Missense Endometrium COSM255012 KDM6A c.3582G>A p.W1194* Substitution - Nonsense Urinary_tract COSM3786638 PWWP2B c.1123G>A p.G375S Substitution - Missense Pancreas COSM4824290 CHD6 c.7258C>T p.L2420F Substitution - Missense Skin COSM3356323 KMT2D c.7420-1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3805545 ORC1 c.528G>T p.L176F Substitution - Missense Breast COSM5623095 PRDM11 c.953A>T p.K318M Substitution - Missense Oesophagus COSM1087047 EZH2 c.1201G>T p.E401* Substitution - Nonsense Endometrium COSM5831997 KDM2B c.1623_1624insC p.K542fs*76 Insertion - Frameshift Breast COSM693863 KDM5A c.498C>G p.L166L Substitution - coding silent Endometrium COSM996184 SIRT2 c.383C>T p.P128L Substitution - Missense Endometrium COSM5954517 RBBP5 c.1490C>G p.S497C Substitution - Missense Upper_aerodigestive_tract COSM1002784 TRIM28 c.2090C>A p.S697* Substitution - Nonsense Endometrium COSM707388 PHF23 c.349T>G p.S117A Substitution - Missense Lung COSM4073753 DNMT1 c.1938C>T p.N646N Substitution - coding silent Stomach COSM4534206 SIRT6 c.205G>A p.G69R Substitution - Missense Skin COSM5902763 ARID1B c.4841-6C>T p.? Unknown Skin COSM230695 KDM5A c.3568C>T p.P1190S Substitution - Missense Skin COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Bone COSM52008 TET2 c.? p.G1370V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6007208 TCF19 c.693G>T p.L231F Substitution - Missense Prostate COSM4693824 JHDM1D c.1522C>T p.R508* Substitution - Nonsense Large_intestine COSM907719 ARID1A c.3959C>A p.S1320Y Substitution - Missense Endometrium COSM164847 TDRKH c.1491A>G p.E497E Substitution - coding silent Breast COSM3973924 ATRX c.3667G>T p.E1223* Substitution - Nonsense Central_nervous_system COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Thyroid COSM5735057 TAF1L c.3448C>T p.R1150* Substitution - Nonsense Pancreas COSM4582513 HDAC10 c.1469C>T p.T490I Substitution - Missense Bone COSM3756558 DOT1L c.4252G>C p.V1418L Substitution - Missense Large_intestine COSM2153636 PRDM12 c.84C>T p.I28I Substitution - coding silent Central_nervous_system COSM1228659 TBL1XR1 c.1003A>C p.K335Q Substitution - Missense Large_intestine COSM5879959 SMC1A c.3341A>G p.N1114S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3568255 BAZ2B c.4377C>T p.F1459F Substitution - coding silent Skin COSM417166 RAI1 c.4652C>T p.S1551L Substitution - Missense Urinary_tract COSM3900874 CHD7 c.5816G>A p.R1939Q Substitution - Missense Stomach COSM4516859 HDAC10 c.240_241GG>AA p.E81K Substitution - Missense Skin COSM1074 SMARCB1 c.564_565insATCCGGC p.P188fs*24 Insertion - Frameshift Soft_tissue COSM117846 ZGPAT c.416A>C p.Y139S Substitution - Missense Ovary COSM4765491 NSD1 c.1722_1723insA p.N576fs*8 Insertion - Frameshift Stomach COSM5376807 SETDB2 c.1706C>T p.P569L Substitution - Missense Skin COSM6000131 KMT2A c.11673G>T p.E3891D Substitution - Missense Prostate COSM3537379 KDM4B c.2266C>T p.P756S Substitution - Missense Skin COSM4982011 HELLS c.2207C>A p.A736E Substitution - Missense Oesophagus COSM5975860 JARID2 c.363G>A p.Q121Q Substitution - coding silent Upper_aerodigestive_tract COSM1560993 PCGF6 c.83_84insGCCTCC p.P28_V29insPP Insertion - In frame Large_intestine COSM4000327 CBX4 c.871T>C p.S291P Substitution - Missense Upper_aerodigestive_tract COSM3466323 PHC1 c.426C>A p.L142L Substitution - coding silent Skin COSM4641110 KDM6B c.712A>G p.T238A Substitution - Missense Large_intestine COSM5683741 EP300 c.4389_4397delGCAGGAATG p.Q1464_W1466delQEW Deletion - In frame Soft_tissue COSM219580 PHIP c.1285A>G p.M429V Substitution - Missense Breast COSM4632979 HDGFL1 c.528G>A p.A176A Substitution - coding silent Large_intestine COSM5980981 CHD9 c.8065A>G p.T2689A Substitution - Missense Upper_aerodigestive_tract COSM4639005 KDM6B c.2980G>A p.V994M Substitution - Missense Large_intestine COSM907762 ARID1A c.6716T>C p.L2239P Substitution - Missense Lung COSM4428812 ASXL3 c.1344T>A p.T448T Substitution - coding silent Oesophagus COSM5671841 ACTL6B c.1014C>A p.R338R Substitution - coding silent Soft_tissue COSM312283 KIAA1045 c.131G>A p.R44H Substitution - Missense Soft_tissue COSM4476983 CHD6 c.210C>T p.T70T Substitution - coding silent Skin COSM4424321 PHF20 c.826C>G p.Q276E Substitution - Missense Oesophagus COSM27189 EP300 c.5850G>T p.R1950S Substitution - Missense Lung COSM1188636 SETD1B c.1984A>T p.K662* Substitution - Nonsense Lung COSM3567451 MBD5 c.2695C>T p.H899Y Substitution - Missense Skin COSM3787275 NCOR1 c.2016A>G p.R672R Substitution - coding silent Pancreas COSM1636136 SMARCA2 c.3445A>G p.N1149D Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4967806 AP001011.3_ENST00000320876 c.308T>C p.V103A Substitution - Missense Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5045351 SUV39H2 c.916G>C p.E306Q Substitution - Missense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2909190 ATAD2B_ENST00000238789 c.2715_2716insG p.F906fs*73 Insertion - Frameshift Large_intestine COSM3716229 PRDM12 c.840C>T p.F280F Substitution - coding silent Cervix COSM421524 KMT2C c.340G>A p.E114K Substitution - Missense Urinary_tract COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM4012803 PWWP2B c.1554C>T p.D518D Substitution - coding silent Large_intestine COSM280814 EP300 c.3641C>A p.S1214Y Substitution - Missense Large_intestine COSM1413030 DIDO1 c.1366G>A p.G456S Substitution - Missense Large_intestine COSM5517019 NCOR1 c.5977C>T p.Q1993* Substitution - Nonsense Biliary_tract COSM46448 HNF1A c.1107+1G>T p.? Unknown Liver COSM1207954 GATAD2A c.67C>T p.R23W Substitution - Missense Large_intestine COSM2855530 PHF10 c.296A>C p.N99T Substitution - Missense Large_intestine COSM5878857 DNMT3A c.1031T>C p.L344P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM944336 PHC1 c.1287G>A p.Q429Q Substitution - coding silent Endometrium COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1668243 TDRD5 c.1207G>T p.E403* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1228833 TDRD6 c.1675A>T p.K559* Substitution - Nonsense Large_intestine COSM5490544 APOBEC1 c.155G>A p.R52Q Substitution - Missense Biliary_tract COSM1331582 TAF1L c.3442C>G p.L1148V Substitution - Missense Ovary COSM3850437 KDM3B c.1769A>C p.D590A Substitution - Missense Stomach COSM6008932 KMT2D c.945G>A p.W315* Substitution - Nonsense Large_intestine COSM3508917 SRCAP c.7205C>G p.A2402G Substitution - Missense Skin COSM3756290 SMARCA4 c.1413G>A p.K471K Substitution - coding silent Soft_tissue COSM4590631 GLYR1 c.1377C>G p.H459Q Substitution - Missense Upper_aerodigestive_tract COSM5352415 HNF1A c.1310-1_1310ins283 p.L438fs*21 Unknown Liver COSM4383131 DIDO1 c.2650A>T p.K884* Substitution - Nonsense Large_intestine COSM1748622 RERE c.3761G>A p.R1254Q Substitution - Missense Urinary_tract COSM4842682 HAT1 c.742C>T p.Q248* Substitution - Nonsense Cervix COSM1608863 CHD2 c.4835A>G p.H1612R Substitution - Missense Liver COSM1477841 SMEK1 c.1522G>A p.E508K Substitution - Missense Breast COSM4891320 ASH1L c.5975C>A p.A1992E Substitution - Missense Upper_aerodigestive_tract COSM4959895 KMT2A c.391G>A p.A131T Substitution - Missense Liver COSM972487 CTCF c.1129C>T p.R377C Substitution - Missense Endometrium COSM437778 BAHCC1 c.3409A>G p.T1137A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM23014 MEN1 c.1657delT p.F553fs*6 Deletion - Frameshift Parathyroid COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM46460 TET2 c.2984_2985insA p.A996fs*13 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM77289 ARID2 c.2296C>T p.P766S Substitution - Missense Ovary COSM69852 BRWD3 c.3701T>G p.V1234G Substitution - Missense Ovary COSM96455 CREBBP c.5282C>G p.S1761* Substitution - Nonsense Upper_aerodigestive_tract COSM110713 ASXL1 c.2110G>A p.G704R Substitution - Missense Kidney COSM108363 SIRT5 c.247C>T p.Q83* Substitution - Nonsense Skin COSM112087 TDG c.286_287insA p.I98fs*6 Insertion - Frameshift Upper_aerodigestive_tract COSM131488 ARID2 c.1177G>T p.E393* Substitution - Nonsense Liver COSM144573 PHF6 c.986A>G p.H329R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM133739 DNMT3A c.2210T>A p.L737H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM165661 ZBTB4 c.2637G>C p.L879F Substitution - Missense Breast COSM211707 TET2 c.565_565delA p.S189fs*18 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM229919 SMYD5 c.719A>C p.Q240P Substitution - Missense Skin COSM255013 KDM6A c.349C>T p.Q117* Substitution - Nonsense Urinary_tract COSM285557 TAF1L c.5076C>A p.V1692V Substitution - coding silent Large_intestine COSM285875 TP53BP1 c.445G>T p.D149Y Substitution - Missense Large_intestine COSM291735 CREBBP c.5039_5041delCCT p.S1680delS Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM292021 ING3 c.72A>T p.E24D Substitution - Missense Large_intestine COSM328013 ARID1A c.1652_1652delA p.Y551fs*68 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM329660 CDYL2 c.1362+3delG p.? Unknown Haematopoietic_and_lymphoid_tissue COSM350093 PHF13 c.139G>T p.E47* Substitution - Nonsense Lung COSM345527 SETD2 c.5621A>G p.D1874G Substitution - Missense Lung COSM362959 WHSC1 c.2909G>T p.R970L Substitution - Missense Lung COSM438181 MBD1 c.1087G>A p.G363R Substitution - Missense Breast COSM462084 PHF15 c.1470G>C p.E490D Substitution - Missense Cervix COSM476240 ATF2 c.1000C>G p.P334A Substitution - Missense Kidney COSM977058 PHF12 c.827C>T p.T276M Substitution - Missense Endometrium COSM985386 KDM6B c.4055C>T p.A1352V Substitution - Missense Endometrium COSM480285 BAP1 c.936T>G p.G312G Substitution - coding silent Kidney COSM681232 DMAP1 c.1239C>G p.G413G Substitution - coding silent Lung COSM680180 ARID1A c.1292C>A p.P431Q Substitution - Missense Lung COSM694491 SMARCC2 c.633-2A>T p.? Unknown Lung COSM2270970 TET2 c.4566_4567insG p.Q1523fs*55 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1051184 PHF17 c.2298C>T p.H766H Substitution - coding silent Endometrium COSM1047345 ACTR8 c.164C>T p.S55L Substitution - Missense Endometrium COSM3724530 SMARCA4 c.2439-2A>T p.? Unknown Ovary COSM1017600 SP140_ENST00000392045 c.785G>A p.S262N Substitution - Missense Endometrium COSM1021280 MSH6 c.2722G>T p.E908* Substitution - Nonsense Endometrium COSM1021299 MSH6 c.3300G>A p.T1100T Substitution - coding silent Endometrium COSM936438 SETD8 c.283C>T p.R95* Substitution - Nonsense Endometrium COSM708663 BAHCC1 c.3664C>T p.P1222S Substitution - Missense Lung COSM734365 GABRG1 c.209C>T p.S70L Substitution - Missense Skin COSM728090 ZBTB38 c.3393C>A p.P1131P Substitution - coding silent Lung COSM913363 MTF2 c.58C>T p.R20* Substitution - Nonsense Large_intestine COSM927028 PRDM11 c.806G>T p.S269I Substitution - Missense Endometrium COSM1008163 BAZ2B c.1706G>T p.S569I Substitution - Missense Endometrium COSM1034571 EP300 c.4933C>T p.R1645* Substitution - Nonsense Endometrium COSM1067073 PRDM9 c.889A>T p.K297* Substitution - Nonsense Endometrium COSM1060900 PHF15 c.1815_1817delACC p.P611delP Deletion - In frame Large_intestine COSM4897625 JMJD5 c.998T>C p.M333T Substitution - Missense Skin COSM1100767 CHD7 c.258G>A p.P86P Substitution - coding silent Large_intestine COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1239177 JARID2 c.3704C>T p.A1235V Substitution - Missense Oesophagus COSM1228404 TAF1 c.380C>T p.T127M Substitution - Missense Large_intestine COSM1244518 ADNP c.2683C>A p.P895T Substitution - Missense Oesophagus COSM2270973 TET2 c.398_398delC p.P133fs*12 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1200636 CDYL2 c.235C>T p.R79C Substitution - Missense Large_intestine COSM1202269 CREBBP c.6596A>T p.Q2199L Substitution - Missense Large_intestine COSM1180829 CREBBP c.3250delA p.I1084fs*15 Deletion - Frameshift Large_intestine COSM1180829 CREBBP c.3250delA p.I1084fs*15 Deletion - Frameshift Breast COSM1179848 KDM6A c.3111G>A p.Q1037Q Substitution - coding silent Soft_tissue COSM1179896 ZMYM5 c.924A>G p.K308K Substitution - coding silent Prostate COSM1187987 BTAF1 c.469A>G p.M157V Substitution - Missense Lung COSM1161090 TDRD3 c.706C>T p.Q236* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1309525 BRPF1 c.1298G>A p.G433D Substitution - Missense Urinary_tract COSM1302270 CDYL2 c.1048G>A p.V350M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1305685 MBD5 c.400G>C p.A134P Substitution - Missense Urinary_tract COSM1324135 RAI1 c.840G>A p.Q280Q Substitution - coding silent Skin COSM1413019 DIDO1 c.3332C>T p.S1111F Substitution - Missense Large_intestine COSM1429842 GABRG1 c.238C>T p.R80C Substitution - Missense Skin COSM1444906 TDRD6 c.5117C>T p.A1706V Substitution - Missense Large_intestine COSM1359470 KDM2B c.2777C>T p.S926F Substitution - Missense Large_intestine COSM1359517 SETD1B c.2058C>T p.F686F Substitution - coding silent Large_intestine COSM1361700 ARID2 c.3438G>A p.S1146S Substitution - coding silent Skin COSM1607438 MTA1 c.427C>T p.R143W Substitution - Missense Liver COSM1477445 CHD8 c.4430G>A p.R1477Q Substitution - Missense Breast COSM1610924 CBX2 c.236G>C p.R79P Substitution - Missense Liver COSM1632968 MECOM c.3029C>T p.A1010V Substitution - Missense Liver COSM1673058 STK31 c.1741A>C p.I581L Substitution - Missense Large_intestine COSM1681632 NCOA6 c.4772C>T p.P1591L Substitution - Missense Liver COSM1709451 CDYL2 c.421C>T p.P141S Substitution - Missense Skin COSM1717368 SETBP1 c.2601C>A p.S867R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1723061 DIDO1 c.4927_4928insC p.R1643fs*37 Insertion - Frameshift Large_intestine COSM1714069 DNMT3L c.62G>A p.G21E Substitution - Missense Skin COSM1716903 ASXL1 c.2384delC p.W796fs*22 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1745551 ARID1A c.3079_3080insATCTGGC p.F1030fs*5 Insertion - Frameshift Urinary_tract COSM1978353 RAG2 c.105C>T p.G35G Substitution - coding silent Large_intestine COSM2006928 KMT2D c.9583G>T p.G3195* Substitution - Nonsense Large_intestine COSM2155188 TDRD10 c.409G>A p.A137T Substitution - Missense Central_nervous_system COSM2743697 JMJD6 c.1195C>T p.R399C Substitution - Missense Large_intestine COSM2743720 JMJD6 c.552T>C p.T184T Substitution - coding silent Skin COSM2772211 TAF1L c.3927G>A p.S1309S Substitution - coding silent Skin COSM3091667 SMARCA2 c.1573C>T p.R525C Substitution - Missense Bone COSM3233483 FMR1 c.1716A>T p.R572S Substitution - Missense Large_intestine COSM3317950 PHF20L1 c.7delA p.K4fs*70 Deletion - Frameshift Large_intestine COSM3363445 PRDM15 c.3246G>C p.K1082N Substitution - Missense Kidney COSM3378605 SMARCA4 c.2444T>C p.L815P Substitution - Missense Pancreas COSM3371988 MORF4L2 c.481G>A p.E161K Substitution - Missense Thyroid COSM3402226 GTF3C1 c.1294G>A p.V432M Substitution - Missense Central_nervous_system COSM3479342 TDRD5 c.2700G>A p.V900V Substitution - coding silent Skin COSM3434293 TDRD1 c.1369G>A p.E457K Substitution - Missense Skin COSM3415761 PRMT3 c.412C>A p.L138I Substitution - Missense Large_intestine COSM3461583 KMT2D c.5275C>T p.P1759S Substitution - Missense Skin COSM3453547 RSF1 c.3827G>A p.R1276Q Substitution - Missense Lung COSM3447488 PHF21A c.792C>T p.P264P Substitution - coding silent Skin COSM3642796 TRRAP c.6486C>T p.V2162V Substitution - coding silent Skin COSM3562451 PHF8 c.806T>C p.I269T Substitution - Missense Skin COSM3731072 ERCC6 c.364C>T p.R122C Substitution - Missense Stomach COSM3758888 PRDM15 c.371G>A p.G124D Substitution - Missense Large_intestine COSM3769844 ATXN7 c.2581G>A p.A861T Substitution - Missense Soft_tissue COSM3805031 ZMYM1 c.1786G>C p.D596H Substitution - Missense Breast COSM3942993 SMARCA2 c.321C>A p.G107G Substitution - coding silent Oesophagus COSM3844733 KDM6A c.329C>G p.P110R Substitution - Missense Breast COSM3871506 PRMT8 c.372C>T p.I124I Substitution - coding silent Skin COSM4115390 TBL1XR1 c.345A>C p.A115A Substitution - coding silent Stomach COSM4072233 SETBP1 c.1827C>T p.P609P Substitution - coding silent Large_intestine COSM4129608 NCOR1 c.571G>A p.E191K Substitution - Missense Upper_aerodigestive_tract COSM4145728 PHF21A c.975C>A p.S325R Substitution - Missense Upper_aerodigestive_tract COSM4142421 PRDM2 c.3853C>G p.P1285A Substitution - Missense Thyroid COSM4161998 KMT2C c.2726G>A p.R909K Substitution - Missense Upper_aerodigestive_tract COSM4170462 KMT2D c.840-1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4185740 SETD2 c.3158_3161delTCAC p.L1053fs*8 Deletion - Frameshift Kidney COSM4204461 SETD8 c.719A>C p.D240A Substitution - Missense Large_intestine COSM4384044 NSD1 c.638G>A p.S213N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4408223 CHD6 c.4408G>A p.D1470N Substitution - Missense Pancreas COSM4428685 PRDM15 c.3964G>A p.E1322K Substitution - Missense Oesophagus COSM4570452 BRDT c.2730T>A p.R910R Substitution - coding silent Skin COSM4506114 TP53BP1 c.695C>T p.S232F Substitution - Missense Skin COSM4583394 NCOA1 c.2394A>T p.E798D Substitution - Missense Bone COSM4584650 SETD5_ENST00000402198 c.3521G>A p.R1174Q Substitution - Missense Bone COSM4513027 EZH1 c.924C>T p.F308F Substitution - coding silent Skin COSM4666269 BRWD3 c.471C>T p.R157R Substitution - coding silent Large_intestine COSM4689701 HDAC7 c.2421G>A p.P807P Substitution - coding silent Large_intestine COSM4713963 PHF19 c.194G>T p.S65I Substitution - Missense Large_intestine COSM4665219 BAZ2A c.5425G>A p.A1809T Substitution - Missense Large_intestine COSM4648103 BAHCC1 c.2258C>T p.A753V Substitution - Missense Large_intestine COSM4632426 HDAC9 c.1991T>C p.I664T Substitution - Missense Large_intestine COSM4806961 KMT2C c.6130A>T p.K2044* Substitution - Nonsense Pancreas COSM4793000 UBR7 c.151G>T p.G51C Substitution - Missense Liver COSM4882312 SIRT5 c.12C>A p.L4L Substitution - coding silent Upper_aerodigestive_tract COSM4917401 NCOA3 c.1439T>G p.I480S Substitution - Missense Liver COSM4899571 JARID2 c.2743C>T p.P915S Substitution - Missense Skin COSM4929064 HDAC3 c.696C>G p.Y232* Substitution - Nonsense Liver COSM4940513 AIRE c.1066C>T p.R356W Substitution - Missense Liver COSM4845211 RSF1 c.3800C>G p.S1267* Substitution - Nonsense Skin COSM4834081 KMT2D c.13573-1G>A p.? Unknown Cervix COSM4963469 TP53BP1 c.1638G>C p.E546D Substitution - Missense Pancreas COSM4984989 HNF1A c.1460G>A p.S487N Substitution - Missense Liver COSM5345953 HCFC1 c.5291C>T p.A1764V Substitution - Missense Large_intestine COSM5357836 TCF19 c.715G>C p.E239Q Substitution - Missense Large_intestine COSM5490758 TAF3 c.2022C>T p.V674V Substitution - coding silent Biliary_tract COSM5434727 PRDM9 c.372C>T p.F124F Substitution - coding silent Oesophagus COSM5430871 TRIM24 c.2478G>A p.E826E Substitution - coding silent Oesophagus COSM5444217 CREBBP c.3217C>G p.Q1073E Substitution - Missense Oesophagus COSM5624280 UBR7 c.466G>T p.V156L Substitution - Missense Oesophagus COSM5644718 TDRD6 c.3942A>T p.I1314I Substitution - coding silent Oesophagus COSM5755165 KDM6B c.4922C>G p.T1641R Substitution - Missense Large_intestine COSM5716884 BRDT c.1311C>T p.L437L Substitution - coding silent Skin COSM5725892 ACTB c.81C>T p.P27P Substitution - coding silent Skin COSM5718761 BPTF c.3304C>T p.L1102F Substitution - Missense Skin COSM5619586 EYA1 c.521A>G p.Q174R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5676206 FXR1 c.1505_1508delGTCG p.R502fs*15 Deletion - Frameshift Soft_tissue COSM5661874 RAI1 c.3726G>T p.R1242R Substitution - coding silent Soft_tissue COSM5711640 KDM6A c.469_470insT p.Y158fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5560528 PHF15 c.1634T>C p.M545T Substitution - Missense Prostate COSM5879091 EZH2 c.1747C>T p.R583* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5821086 ARID1A c.6746C>A p.S2249* Substitution - Nonsense Liver COSM5944377 ASXL1 c.1888_1892delCACCA p.H630fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5940955 TRIM28 c.341-5C>T p.? Unknown Skin COSM5944137 TET2 c.846_847insCT p.E283fs*11 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5979173 EHMT2 c.127G>T p.D43Y Substitution - Missense Upper_aerodigestive_tract COSM5990197 HNF1A c.370C>T p.Q124* Substitution - Nonsense Liver COSM6000237 HDAC7 c.2816C>T p.P939L Substitution - Missense Prostate COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716579 BAP1 c.38-?_1250+?del p.? Unknown Pleura COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41992 TET2 c.3138_3138delT p.T1047fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4169396 PBRM1 c.? p.P1174fs*? Unknown Skin COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4528253 ERCC6 c.1521T>A p.L507L Substitution - coding silent Skin COSM1583082 DNMT3A c.1741T>G p.W581G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM5657248 HDAC9 c.2134G>T p.G712* Substitution - Nonsense Soft_tissue COSM3909085 PHF2 c.3208C>T p.R1070C Substitution - Missense Stomach COSM4607085 TP53BP1 c.4665A>T p.A1555A Substitution - coding silent Adrenal_gland COSM6014836 PHC1 c.392C>T p.S131F Substitution - Missense Skin COSM3112846 SRCAP c.1950C>T p.T650T Substitution - coding silent Skin COSM1665987 SMARCD1 c.249-1G>A p.? Unknown Kidney COSM3471968 TTF2 c.2919C>T p.S973S Substitution - coding silent Skin COSM3369683 PRDM16 c.164C>T p.P55L Substitution - Missense Thyroid COSM4775146 DNMT3A c.2172C>A p.Y724* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM241836 TAF3 c.1097_1098insC p.D367fs*1 Insertion - Frameshift Prostate COSM86082 KMT2C c.2418C>G p.S806S Substitution - coding silent Soft_tissue COSM4505187 MECP2 c.650C>T p.P217L Substitution - Missense Skin COSM5009133 KMT2C c.1859C>A p.S620Y Substitution - Missense Large_intestine COSM251143 SMEK1 c.1619T>C p.L540S Substitution - Missense Liver COSM488487 PHF8 c.428C>A p.T143N Substitution - Missense Breast COSM5483866 CHD8 c.1490A>G p.E497G Substitution - Missense Large_intestine COSM5190164 CHD3 c.4209C>T p.V1403V Substitution - coding silent Prostate COSM243046 ARID1A c.4948C>T p.Q1650* Substitution - Nonsense Prostate COSM2270421 RTF1 c.1700G>A p.G567E Substitution - Missense Large_intestine COSM2889582 DNMT3B c.1613G>A p.R538H Substitution - Missense Large_intestine COSM3707814 NCOA3 c.2137A>G p.I713V Substitution - Missense Liver COSM457093 MECP2 c.253C>T p.R85C Substitution - Missense Breast COSM4971429 ZBTB4 c.1778C>T p.S593F Substitution - Missense Central_nervous_system COSM4881256 HDAC5 c.3G>A p.M1I Substitution - Missense Upper_aerodigestive_tract COSM2230114 PRDM2 c.2508T>C p.G836G Substitution - coding silent Large_intestine COSM3589905 MECOM c.267-1G>A p.? Unknown Large_intestine COSM5387561 CHD3 c.3397C>T p.L1133F Substitution - Missense Skin COSM253894 ZMYND8 c.2140G>C p.D714H Substitution - Missense Urinary_tract COSM5945676 SETD2 c.1618G>A p.E540K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4769003 JHDM1D c.1369G>C p.D457H Substitution - Missense Cervix COSM5922493 ARID1B c.5641G>A p.E1881K Substitution - Missense Skin COSM1682001 PRDM15 c.577G>A p.E193K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2801190 PHF12 c.1653C>T p.H551H Substitution - coding silent Large_intestine COSM1125086 HDAC8 c.522C>T p.Y174Y Substitution - coding silent Endometrium COSM3509555 CREBBP c.3979A>T p.K1327* Substitution - Nonsense Skin COSM4120581 SETD5_ENST00000402198 c.1712T>G p.V571G Substitution - Missense Stomach COSM941764 BAZ2A c.2626C>T p.R876* Substitution - Nonsense Large_intestine COSM961353 INOC1 c.3046C>T p.R1016* Substitution - Nonsense Endometrium COSM1168639 POGZ c.342C>T p.A114A Substitution - coding silent Pancreas COSM1179107 KMT2C c.851G>A p.R284Q Substitution - Missense Biliary_tract COSM133002 ARID1A c.4354_4354delC p.Q1452fs*29 Deletion - Frameshift Large_intestine COSM956524 ARID4A c.714G>A p.P238P Substitution - coding silent Endometrium COSM5775201 CHD1 c.4236G>T p.K1412N Substitution - Missense Breast COSM4879293 SFMBT1 c.2575G>A p.A859T Substitution - Missense Prostate COSM4590120 KDM4B c.2128A>G p.K710E Substitution - Missense Upper_aerodigestive_tract COSM5756290 SETD2 c.2810delC p.P937fs*43 Deletion - Frameshift Large_intestine COSM3068880 SETD2 c.5318A>G p.N1773S Substitution - Missense Large_intestine COSM12939 TRIM33 c.2431G>A p.E811K Substitution - Missense Lung COSM3671088 KMT2D c.7510C>A p.R2504R Substitution - coding silent Prostate COSM5350991 SMARCC1 c.1301C>T p.S434L Substitution - Missense Lung COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3839136 NCOA1 c.2913G>C p.E971D Substitution - Missense Breast COSM4983369 ZMYM3 c.410C>G p.P137R Substitution - Missense Oesophagus COSM4160094 PRDM1 c.501C>G p.D167E Substitution - Missense Soft_tissue COSM4384060 NSD1 c.1976A>G p.D659G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1066284 NSD1 c.5617A>G p.I1873V Substitution - Missense Endometrium COSM1583154 DNMT3A c.? p.L730P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1733223 TRIM24 c.2858_2860delAAG p.E954delE Deletion - In frame Pancreas COSM4413592 YY1 c.1106A>G p.N369S Substitution - Missense Genital_tract COSM4973477 BAZ1A c.4571C>T p.A1524V Substitution - Missense Oesophagus COSM1248469 CLOCK c.1329G>A p.T443T Substitution - coding silent Oesophagus COSM5883462 CAMKMT c.676G>C p.D226H Substitution - Missense Breast COSM4462011 HDAC6 c.122C>T p.P41L Substitution - Missense Skin COSM1067639 NIPBL c.112A>C p.K38Q Substitution - Missense Endometrium COSM1472743 LMNA c.569G>A p.R190Q Substitution - Missense Breast COSM2738961 NCOR1 c.5764A>C p.R1922R Substitution - coding silent Upper_aerodigestive_tract COSM4575092 SIRT4 c.532C>A p.R178R Substitution - coding silent Bone COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3378823 KDM4B c.2957G>A p.R986Q Substitution - Missense Pancreas COSM4477879 SND1 c.2193C>A p.R731R Substitution - coding silent Skin COSM5031074 KMT2D c.?_?insGG p.?fs Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3548742 C20orf20 c.289C>T p.P97S Substitution - Missense Skin COSM27188 CHD5 c.3917G>T p.R1306L Substitution - Missense Lung COSM1360188 EP400 c.8187G>A p.Q2729Q Substitution - coding silent Liver COSM4949789 ARID1A c.1228G>A p.G410R Substitution - Missense Liver COSM431203 KMT2D c.10026G>A p.Q3342Q Substitution - coding silent Soft_tissue COSM939514 ARID2 c.4582G>A p.A1528T Substitution - Missense Endometrium COSM731874 SFMBT1 c.523G>T p.D175Y Substitution - Missense Lung COSM1247995 CDYL2 c.928G>A p.G310S Substitution - Missense Stomach COSM294432 GTF3C1 c.6276G>A p.R2092R Substitution - coding silent Large_intestine COSM87094 TET2 c.2000_2016>C p.H667fs*28 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM4156349 TCF20 c.5201C>A p.P1734Q Substitution - Missense Thyroid COSM713258 KDM4B c.1626G>T p.Q542H Substitution - Missense Lung COSM5405868 PHIP c.4715A>T p.N1572I Substitution - Missense Skin COSM72743 AP001011.3_ENST00000320876 c.1288C>T p.H430Y Substitution - Missense Ovary COSM2856515 HDGFL1 c.290C>T p.S97L Substitution - Missense Breast COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5576372 ACTL6B c.809C>T p.P270L Substitution - Missense Skin COSM1053619 ING2 c.266C>T p.A89V Substitution - Missense Endometrium COSM3760177 ACTR8 c.1518A>G p.G506G Substitution - coding silent Large_intestine COSM476085 BAZ2B c.774A>G p.E258E Substitution - coding silent Kidney COSM4880932 KMT2D c.6543T>C p.S2181S Substitution - coding silent Prostate COSM2001167 EP400 c.8583G>A p.A2861A Substitution - coding silent Large_intestine COSM255247 KDM4C c.3125C>A p.T1042N Substitution - Missense Central_nervous_system COSM3457084 HNF1A c.60G>A p.G20G Substitution - coding silent Skin COSM28801 KDM6A c.226-?_654+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1017615 SP140_ENST00000392045 c.2376T>C p.C792C Substitution - coding silent Endometrium COSM5183709 SETD5_ENST00000402198 c.845A>G p.H282R Substitution - Missense Large_intestine COSM1377537 SETD1A c.3537G>A p.P1179P Substitution - coding silent Large_intestine COSM1439502 PRDM1 c.754A>G p.S252G Substitution - Missense Large_intestine COSM3048504 SP100 c.608G>A p.G203E Substitution - Missense Upper_aerodigestive_tract COSM320610 GLYATL1 c.184G>T p.V62L Substitution - Missense Lung COSM931020 KDM2A c.2104C>A p.L702M Substitution - Missense Endometrium COSM5396447 SP140_ENST00000392045 c.82G>A p.V28I Substitution - Missense Skin COSM693710 KMT2D c.13659C>T p.P4553P Substitution - coding silent Large_intestine COSM5743875 BAHCC1 c.1133C>T p.P378L Substitution - Missense Small_intestine COSM5794149 TET2 c.4108G>C p.G1370R Substitution - Missense Breast COSM5878947 TET2 c.1294G>T p.E432* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4963995 SETD2 c.891C>T p.S297S Substitution - coding silent Pancreas COSM5511733 INO80B c.569G>A p.C190Y Substitution - Missense Biliary_tract COSM3796089 ZBTB4 c.2790C>A p.L930L Substitution - coding silent Urinary_tract COSM917579 ZMYND11 c.1656G>A p.A552A Substitution - coding silent Endometrium COSM4463923 TRIM28 c.1310C>T p.S437F Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3385471 TDRD5 c.2747G>A p.R916H Substitution - Missense Pancreas COSM1698019 EYA4 c.1231G>A p.E411K Substitution - Missense Skin COSM1717688 SMARCC2 c.3401A>C p.N1134T Substitution - Missense Adrenal_gland COSM96361 BAP1 c.118C>T p.Q40* Substitution - Nonsense Pleura COSM1025805 DNMT3B c.1609C>T p.R537W Substitution - Missense Large_intestine COSM3770983 LMNB2 c.1036G>A p.V346M Substitution - Missense Pancreas COSM4750559 RAI1 c.2123T>G p.F708C Substitution - Missense Stomach COSM5887568 GATAD2B c.1324G>A p.E442K Substitution - Missense Upper_aerodigestive_tract COSM5880308 PHF6 c.957_958insGT p.G320fs*32 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1586678 CHD4 c.101-1G>T p.? Unknown Endometrium COSM87920 KMT2D c.3576_3577insC p.K1193fs*25 Insertion - Frameshift Central_nervous_system COSM3424014 PRMT2 c.423C>T p.I141I Substitution - coding silent Large_intestine COSM1694318 GABRG1 c.98G>A p.G33E Substitution - Missense Skin COSM3378484 ASXL3 c.2682C>T p.N894N Substitution - coding silent Pancreas COSM3587074 RUVBL1 c.810A>G p.E270E Substitution - coding silent Skin COSM1709087 SETD1A c.776C>T p.S259F Substitution - Missense Skin COSM278222 ZMYM4 c.2425T>G p.L809V Substitution - Missense Large_intestine COSM985412 CBX4 c.733G>A p.G245R Substitution - Missense Endometrium COSM53106 TET2 c.? p.T1726fs*18 Frameshift Haematopoietic_and_lymphoid_tissue COSM4550241 EP400 c.4964G>A p.G1655E Substitution - Missense Skin COSM5613658 MPHOSPH8 c.912G>A p.M304I Substitution - Missense Lung COSM5232987 KMT2D c.? p.I742fs*? Frameshift Lung COSM2758227 NCOA6 c.943C>T p.P315S Substitution - Missense Skin COSM5640170 KMT2D c.10800_10801insT p.A3601fs*141 Insertion - Frameshift Oesophagus COSM4170760 CREBBP c.3061-2A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM272257 PHF3 c.2903_2904insT p.R971fs*6 Insertion - Frameshift Large_intestine COSM5780423 PHF3 c.4721C>A p.T1574K Substitution - Missense Breast COSM1095774 ATAD2 c.467G>A p.R156Q Substitution - Missense Endometrium COSM3474953 ASH1L c.7872C>T p.D2624D Substitution - coding silent Skin COSM3416409 HCFC2 c.724C>T p.P242S Substitution - Missense Large_intestine COSM1387268 KDM6B c.2950C>T p.R984W Substitution - Missense Large_intestine COSM5914282 DIDO1 c.5792C>T p.P1931L Substitution - Missense Skin COSM3633851 TRIM24 c.1378C>T p.P460S Substitution - Missense Skin COSM1620726 PRDM1 c.911G>A p.R304K Substitution - Missense Liver COSM381183 POGZ c.4045C>A p.L1349I Substitution - Missense Lung COSM2152156 ELP3 c.1311G>A p.L437L Substitution - coding silent Central_nervous_system COSM4460701 CHD9 c.1177C>G p.Q393E Substitution - Missense Skin COSM5903724 TAF1L c.3031G>A p.D1011N Substitution - Missense Skin COSM3053502 SMEK2 c.393G>A p.L131L Substitution - coding silent Upper_aerodigestive_tract COSM1713592 EYA2 c.4G>A p.V2I Substitution - Missense Skin COSM107942 SP140_ENST00000392045 c.1542G>A p.R514R Substitution - coding silent Skin COSM4434731 PHRF1 c.3008A>G p.K1003R Substitution - Missense Oesophagus COSM956522 ARID4A c.644C>A p.S215* Substitution - Nonsense Endometrium COSM423101 PBRM1 c.2419delA p.I807fs*18 Deletion - Frameshift Kidney COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4923336 BRPF3 c.1061A>C p.Q354P Substitution - Missense Liver COSM5435200 SMARCA1 c.793G>A p.G265R Substitution - Missense Oesophagus COSM1099949 MYST3 c.1615C>T p.L539F Substitution - Missense Endometrium COSM5422540 SET c.672T>C p.D224D Substitution - coding silent Prostate COSM3452249 KDM2A c.1674C>T p.S558S Substitution - coding silent Skin COSM3525864 SETBP1 c.2481G>A p.W827* Substitution - Nonsense Skin COSM136541 TDRD6 c.532C>T p.R178C Substitution - Missense Skin COSM4016197 TAF3 c.936T>C p.P312P Substitution - coding silent Stomach COSM3913711 RBBP7 c.943C>T p.H315Y Substitution - Missense Skin COSM94798 KAT6B c.1691G>C p.S564T Substitution - Missense Lung COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4387447 BAP1 c.68-16_69del18 p.? Unknown Eye COSM985382 KDM6B c.2253_2258delCACCAC p.T761_T762delTT Deletion - In frame Upper_aerodigestive_tract COSM675833 PYGO2 c.138G>C p.R46S Substitution - Missense Lung COSM1745506 CTCF c.1703_1704insT p.T569fs*7 Insertion - Frameshift Urinary_tract COSM5707678 EP300 c.4471A>T p.T1491S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1199736 CBX6 c.595C>T p.R199C Substitution - Missense Large_intestine COSM1388732 SETBP1 c.4366C>T p.R1456C Substitution - Missense Large_intestine COSM4467231 KMT2D c.13973C>T p.P4658L Substitution - Missense Skin COSM213307 MYST3 c.2525G>C p.S842T Substitution - Missense Breast COSM4826867 RSF1 c.1429G>A p.D477N Substitution - Missense Cervix COSM3873173 DAXX c.355C>T p.R119W Substitution - Missense Stomach COSM757497 ATRX c.2576G>T p.G859V Substitution - Missense Lung COSM30412 KDM3A c.559G>C p.D187H Substitution - Missense Breast COSM285198 SMARCA5 c.3144G>T p.K1048N Substitution - Missense Large_intestine COSM1734241 EHMT2 c.2797G>A p.V933M Substitution - Missense Liver COSM42016 TET2 c.4393C>T p.R1465* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4120732 BRPF1 c.1369C>T p.P457S Substitution - Missense Stomach COSM5582747 TET2 c.4972C>T p.L1658L Substitution - coding silent Skin COSM4991923 SETMAR c.1360delA p.K455fs*10 Deletion - Frameshift Skin COSM5672288 BRD8 c.1093A>T p.N365Y Substitution - Missense Soft_tissue COSM1752706 KDM3A c.3802G>A p.E1268K Substitution - Missense Urinary_tract COSM1608335 INOC1 c.2262A>G p.E754E Substitution - coding silent Liver COSM87254 IKZF1 c.1-?_160+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM397798 GABRG1 c.802A>T p.R268* Substitution - Nonsense Lung COSM1680469 MUM1 c.181G>T p.E61* Substitution - Nonsense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM97025 PRDM1 c.522C>A p.Y174* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5945907 KMT2D c.9930+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM216221 ERCC6 c.4211G>A p.R1404H Substitution - Missense Central_nervous_system COSM1179669 KMT2C c.943G>A p.G315S Substitution - Missense Ovary COSM220463 CREBBP c.3034G>A p.E1012K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4013335 BMI1 c.568C>G p.Q190E Substitution - Missense Stomach COSM4777541 SMARCC2 c.1391C>G p.A464G Substitution - Missense Prostate COSM2808601 AP001011.3_ENST00000320876 c.3413C>T p.A1138V Substitution - Missense Large_intestine COSM2996489 PRMT7 c.1173C>T p.Y391Y Substitution - coding silent Large_intestine COSM4666120 BRD7 c.1531G>T p.D511Y Substitution - Missense Large_intestine COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM727034 EP300 c.769T>G p.Y257D Substitution - Missense Lung COSM723971 NCOA6 c.2745G>A p.K915K Substitution - coding silent Lung COSM394999 INOC1 c.411G>T p.E137D Substitution - Missense Lung COSM5808779 BAZ2B c.5501A>G p.Y1834C Substitution - Missense Liver COSM144496 IDH2 c.? p.R172S Substitution - Missense Central_nervous_system COSM5617993 HCFC2 c.1135G>A p.E379K Substitution - Missense Breast COSM3554447 CBX6 c.825C>T p.S275S Substitution - coding silent Skin COSM4383576 DNMT3A c.1309delA p.T437fs*214 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM110492 SMARCA4 c.2300C>T p.S767F Substitution - Missense Skin COSM3932734 ZBTB4 c.1009T>G p.Y337D Substitution - Missense Urinary_tract COSM421133 CHD1 c.3809A>G p.Y1270C Substitution - Missense Urinary_tract COSM5892434 DIDO1 c.6074C>T p.P2025L Substitution - Missense Skin COSM144182 EZH2 c.? p.P577L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4101917 DNMT3L c.277C>A p.Q93K Substitution - Missense Stomach COSM3689920 CHD8 c.1655A>C p.N552T Substitution - Missense Large_intestine COSM3097041 ATRX c.4744_4745insA p.T1582fs*19 Insertion - Frameshift Large_intestine COSM1360187 EP400 c.8184G>A p.Q2728Q Substitution - coding silent Large_intestine COSM193900 BPTF c.7054C>T p.R2352C Substitution - Missense Large_intestine COSM3907572 KIAA2026_ENST00000399933 c.3778G>A p.A1260T Substitution - Missense Stomach COSM5999292 KAT6B c.1688C>T p.P563L Substitution - Missense Prostate COSM5729865 SMEK1 c.1303C>T p.L435F Substitution - Missense Skin COSM3509565 CREBBP c.1423C>T p.P475S Substitution - Missense Skin COSM1203777 DMAP1 c.754C>T p.R252C Substitution - Missense Large_intestine COSM5599342 CREBBP c.7047C>T p.V2349V Substitution - coding silent Skin COSM4590050 PRDM10 c.1332A>C p.E444D Substitution - Missense Upper_aerodigestive_tract COSM4167420 ARID1B c.1567C>T p.P523S Substitution - Missense Central_nervous_system COSM1617606 SETMAR c.437C>T p.T146M Substitution - Missense Liver COSM5790170 ARID2 c.265T>A p.L89I Substitution - Missense Breast COSM1635854 NCOA2 c.3390G>A p.A1130A Substitution - coding silent Liver COSM1414364 DNMT3L c.6G>A p.A2A Substitution - coding silent Large_intestine COSM940295 SMARCD1 c.261G>T p.K87N Substitution - Missense Endometrium COSM123887 KDM4A c.1984G>T p.A662S Substitution - Missense Upper_aerodigestive_tract COSM5750137 ACTR5 c.1721A>G p.Y574C Substitution - Missense Stomach COSM3818064 BRD7 c.325G>T p.A109S Substitution - Missense Breast COSM1073182 L3MBTL3 c.1571C>A p.S524Y Substitution - Missense Large_intestine COSM5572408 MBD5 c.544T>C p.Y182H Substitution - Missense Prostate COSM1678956 GTF3C1 c.5182C>T p.Q1728* Substitution - Nonsense Skin COSM1721158 BTAF1 c.138+9delT p.? Unknown Bone COSM2154697 CHD2 c.5026G>A p.G1676R Substitution - Missense Central_nervous_system COSM4584097 MECOM c.1120G>A p.E374K Substitution - Missense Bone COSM5004875 BRD3 c.945C>T p.C315C Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM591880 PRDM9 c.1404G>A p.W468* Substitution - Nonsense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1716069 AICDA c.230G>A p.R77H Substitution - Missense Small_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM219021 RBBP7 c.908G>A p.R303H Substitution - Missense Pancreas COSM4799332 PHRF1 c.2229C>T p.H743H Substitution - coding silent Liver COSM3474958 ASH1L c.6586C>T p.L2196L Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3712220 PHF12 c.550G>A p.D184N Substitution - Missense Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4042350 KMT2D c.12593G>A p.R4198Q Substitution - Missense Upper_aerodigestive_tract COSM5624250 KMT2D c.5019delC p.Y1674fs*103 Deletion - Frameshift Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1048026 ATXN7 c.1901C>T p.A634V Substitution - Missense Endometrium COSM4416277 EYA1 c.782C>T p.P261L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1607642 BAZ1A c.165T>C p.A55A Substitution - coding silent Liver COSM1165359 MUM1 c.1142G>T p.G381V Substitution - Missense Large_intestine COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1676099 MTA2 c.809C>T p.A270V Substitution - Missense Large_intestine COSM1436887 PRDM9 c.1468G>T p.G490* Substitution - Nonsense Oesophagus COSM1465108 MSL3 c.1056G>A p.T352T Substitution - coding silent Large_intestine COSM1672149 NSD1 c.7875G>T p.W2625C Substitution - Missense Large_intestine COSM1612596 KDM4B c.537C>G p.F179L Substitution - Missense Liver COSM2777607 KIAA2026_ENST00000399933 c.1920C>T p.C640C Substitution - coding silent Large_intestine COSM3413911 EYA4 c.1191+4A>C p.? Unknown Oesophagus COSM3657729 UHRF2 c.858C>T p.F286F Substitution - coding silent Skin COSM4725146 SETD1A c.4594G>A p.V1532M Substitution - Missense Large_intestine COSM4927075 MBD4 c.997A>T p.I333L Substitution - Missense Liver COSM3589893 MECOM c.718G>A p.E240K Substitution - Missense Skin COSM1124907 TAF1 c.3650G>A p.R1217Q Substitution - Missense Endometrium COSM3561965 SUV39H1 c.385C>T p.R129C Substitution - Missense Skin COSM1671034 CLOCK c.1662A>T p.Q554H Substitution - Missense Large_intestine COSM3911202 PHF20 c.2779G>A p.G927S Substitution - Missense Skin COSM5015372 MYST1 c.788T>C p.L263P Substitution - Missense Kidney COSM896919 ASH1L c.5561G>A p.R1854Q Substitution - Missense Endometrium COSM4490277 EHMT2 c.3611C>T p.S1204F Substitution - Missense Skin COSM3604085 GABRG1 c.1088G>A p.G363E Substitution - Missense Skin COSM5718002 SMARCA4 c.2650C>T p.H884Y Substitution - Missense Skin COSM3570004 HAT1 c.115C>T p.R39C Substitution - Missense Skin COSM747175 BAZ1B c.2305A>C p.R769R Substitution - coding silent Lung COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Pancreas COSM79789 EP400 c.3450C>T p.A1150A Substitution - coding silent Ovary COSM88033 KDM6B c.3466C>T p.R1156* Substitution - Nonsense Skin COSM122661 DNMT3A c.2162A>G p.K721R Substitution - Missense Upper_aerodigestive_tract COSM118691 EED c.180A>G p.P60P Substitution - coding silent Ovary COSM130413 ARID1A c.2830C>T p.Q944* Substitution - Nonsense Biliary_tract COSM149376 SETD2 c.4376C>T p.P1459L Substitution - Missense Soft_tissue COSM216758 TDRD6 c.753G>A p.T251T Substitution - coding silent Pancreas COSM227050 KMT2C c.8512G>T p.E2838* Substitution - Nonsense Skin COSM240842 NCOA6 c.3993G>T p.R1331S Substitution - Missense Prostate COSM354056 ASH1L c.592G>T p.G198C Substitution - Missense Lung COSM347956 ARID1A c.1501C>T p.Q501* Substitution - Nonsense Lung COSM376599 PHC1 c.246G>A p.R82R Substitution - coding silent Lung COSM414450 ASH1L c.2311G>C p.D771H Substitution - Missense Urinary_tract COSM422767 PBRM1 c.1102G>T p.E368* Substitution - Nonsense Kidney COSM452424 TRIM24 c.831G>A p.L277L Substitution - coding silent Breast COSM693700 KMT2D c.9868G>A p.D3290N Substitution - Missense Urinary_tract COSM943592 APOBEC1 c.467T>C p.F156S Substitution - Missense Endometrium COSM941756 BAZ2A_ENST00000379441 c.3014A>G p.N1005S Substitution - Missense Endometrium COSM1017635 SP100 c.242G>A p.R81H Substitution - Missense Endometrium COSM940078 KMT2D c.2919G>A p.T973T Substitution - coding silent Endometrium COSM1034753 TCF20 c.5720G>A p.R1907Q Substitution - Missense Endometrium COSM1066287 NSD1 c.5740C>T p.R1914C Substitution - Missense Endometrium COSM1121600 KDM6A c.3336C>T p.V1112V Substitution - coding silent Endometrium COSM1130642 PHF20 c.969A>G p.L323L Substitution - coding silent Prostate COSM1093560 TRRAP c.1117C>T p.P373S Substitution - Missense Endometrium COSM1087670 KMT2C c.499C>G p.P167A Substitution - Missense Endometrium COSM1253969 HAT1 c.835T>G p.S279A Substitution - Missense Oesophagus COSM1254016 HDAC9 c.1398C>A p.V466V Substitution - coding silent Oesophagus COSM1267587 TDRD6 c.5786A>G p.Q1929R Substitution - Missense Stomach COSM1178238 CHD3 c.1200C>A p.A400A Substitution - coding silent Stomach COSM1211717 KDM2B c.1114C>T p.R372C Substitution - Missense Large_intestine COSM1172326 MYST1 c.827_828delTG p.Y277fs*2 Deletion - Frameshift Oesophagus COSM1292720 CHD7 c.2820G>A p.P940P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1327358 PRMT2 c.842T>G p.V281G Substitution - Missense Ovary COSM1318620 TET2 c.3344delC p.P1115fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1381128 NCOR1 c.3198G>T p.L1066F Substitution - Missense Large_intestine COSM1377037 GTF3C1 c.283G>T p.E95* Substitution - Nonsense Large_intestine COSM1426605 PRDM5 c.467G>A p.G156D Substitution - Missense Large_intestine COSM1440683 SIRT5 c.657C>T p.H219H Substitution - coding silent Liver COSM1339915 ACTA1 c.681C>T p.N227N Substitution - coding silent Large_intestine COSM1349800 BTAF1 c.4415G>C p.S1472T Substitution - Missense Large_intestine COSM1566684 PBRM1 c.2211A>G p.T737T Substitution - coding silent Soft_tissue COSM1617876 PBRM1 c.3948_3949insT p.A1317fs*8 Insertion - Frameshift Liver COSM1632538 SMARCB1 c.575A>G p.D192G Substitution - Missense Liver COSM1726409 NIPBL c.5666G>C p.C1889S Substitution - Missense Liver COSM1735135 MEN1 c.248delT p.L83fs*36 Deletion - Frameshift Pancreas COSM2151519 CLOCK c.416C>A p.T139N Substitution - Missense Central_nervous_system COSM2182754 SETDB1 c.2621delC p.C876fs*8 Deletion - Frameshift Biliary_tract COSM2176147 SETD1B c.846C>T p.L282L Substitution - coding silent Skin COSM2723784 ZBTB33 c.1748T>G p.L583R Substitution - Missense Large_intestine COSM3080632 ACTL6B c.332A>C p.E111A Substitution - Missense Large_intestine COSM3148801 DNMT1 c.1759C>A p.L587M Substitution - Missense Large_intestine COSM3294350 NCOA5 c.233T>C p.V78A Substitution - Missense Stomach COSM3296309 EPC2 c.2109C>T p.T703T Substitution - coding silent Upper_aerodigestive_tract COSM3347159 EHMT2 c.2018A>G p.N673S Substitution - Missense Lung COSM3394371 ZCWPW1 c.1471+5G>T p.? Unknown Pancreas COSM3392432 SETD2 c.5584C>T p.Q1862* Substitution - Nonsense Pancreas COSM3479265 TDRD5 c.100G>A p.E34K Substitution - Missense Skin COSM3479316 TDRD5 c.2212G>A p.D738N Substitution - Missense Skin COSM3496554 ARID4A c.38G>A p.G13E Substitution - Missense Skin COSM3494948 CHD8 c.2347C>A p.P783T Substitution - Missense Skin COSM3642840 TRRAP c.10698G>A p.E3566E Substitution - coding silent Skin COSM3576956 IDH1 c.1158G>A p.V386V Substitution - coding silent Skin COSM3587830 HDAC11 c.889C>T p.L297F Substitution - Missense Skin COSM3608973 KDM3B c.1593C>T p.S531S Substitution - coding silent Skin COSM3590007 PHC3 c.2500C>T p.L834F Substitution - Missense Skin COSM3656082 EHMT1 c.915C>T p.S305S Substitution - coding silent Skin COSM3695571 ATRX c.2692G>T p.D898Y Substitution - Missense Large_intestine COSM3669013 BRWD3 c.778C>A p.L260I Substitution - Missense Liver COSM3704147 ARID2 c.3648G>A p.T1216T Substitution - coding silent Liver COSM3718818 KMT2D c.14133delA p.K4711fs*14 Deletion - Frameshift Upper_aerodigestive_tract COSM3719579 SP100 c.924G>C p.E308D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3772201 MYST1 c.760A>G p.K254E Substitution - Missense Pancreas COSM3777606 BRPF3 c.117G>A p.R39R Substitution - coding silent Urinary_tract COSM3799430 ASXL1 c.1690A>T p.K564* Substitution - Nonsense Urinary_tract COSM3818886 NCOR1 c.5533G>A p.E1845K Substitution - Missense Breast COSM3850431 KDM3B c.583C>T p.P195S Substitution - Missense Stomach COSM3935233 HELLS c.988A>G p.I330V Substitution - Missense Oesophagus COSM3938072 DPF1 c.163T>A p.W55R Substitution - Missense Oesophagus COSM3845470 BRWD3 c.1059G>C p.E353D Substitution - Missense Breast COSM3840187 KDM3A c.3108T>C p.N1036N Substitution - coding silent Breast COSM3876915 MLL5 c.5419A>G p.T1807A Substitution - Missense Stomach COSM3957567 CREBBP c.1823+4C>A p.? Unknown Lung COSM3972169 DNMT3A c.1619G>A p.C540Y Substitution - Missense Central_nervous_system COSM3972659 C20orf20 c.228C>G p.V76V Substitution - coding silent Central_nervous_system COSM3985688 JMJD1C c.665A>C p.K222T Substitution - Missense Kidney COSM4096164 SMYD1 c.632A>G p.N211S Substitution - Missense Stomach COSM4060384 MYST1 c.168G>C p.E56D Substitution - Missense Stomach COSM4132333 KDM4B c.2334G>A p.L778L Substitution - coding silent Thyroid COSM4129608 NCOR1 c.571G>A p.E191K Substitution - Missense Upper_aerodigestive_tract COSM4145728 PHF21A c.975C>A p.S325R Substitution - Missense Upper_aerodigestive_tract COSM4154555 BAZ2B c.2297T>A p.L766H Substitution - Missense Kidney COSM4162018 KMT2C c.2315C>T p.S772L Substitution - Missense Upper_aerodigestive_tract COSM4161255 TDRD6 c.599T>G p.V200G Substitution - Missense Upper_aerodigestive_tract COSM4333331 PRMT5 c.1093G>A p.G365R Substitution - Missense Biliary_tract COSM4385256 EP300 c.4102G>A p.G1368S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4397318 ZMYM6 c.1137G>A p.P379P Substitution - coding silent Skin COSM4387435 BAP1 c.506A>C p.H169P Substitution - Missense Eye COSM4503761 EHMT2 c.647C>T p.S216L Substitution - Missense Skin COSM4491697 CDYL c.546C>T p.S182S Substitution - coding silent Skin COSM4429619 CHD3 c.3526G>A p.A1176T Substitution - Missense Oesophagus COSM4498146 NCOR1 c.5091C>T p.S1697S Substitution - coding silent Skin COSM4571925 BRWD1 c.5865T>A p.T1955T Substitution - coding silent Skin COSM4411409 POLE3 c.43A>T p.I15F Substitution - Missense Kidney COSM4666082 BRD1 c.858C>T p.D286D Substitution - coding silent Large_intestine COSM4728279 SMARCA2 c.2990A>T p.K997M Substitution - Missense Large_intestine COSM4693813 JARID2 c.3221A>G p.N1074S Substitution - Missense Large_intestine COSM4742770 ZGPAT c.255C>T p.A85A Substitution - coding silent Large_intestine COSM4765107 ARID1A c.5542_5543insG p.D1850fs*4 Insertion - Frameshift Biliary_tract COSM4661147 ALKBH3 c.804G>A p.P268P Substitution - coding silent Large_intestine COSM4702383 KMT2A c.2992A>G p.T998A Substitution - Missense Large_intestine COSM4636534 UHRF2 c.121G>C p.E41Q Substitution - Missense Large_intestine COSM4655394 MLL5 c.5042C>A p.P1681Q Substitution - Missense Large_intestine COSM4614706 KMT2D c.5069delG p.G1690fs*87 Deletion - Frameshift Large_intestine COSM4764007 FXR1 c.1808T>A p.I603N Substitution - Missense Stomach COSM4801483 HNF1A c.13C>T p.L5L Substitution - coding silent Liver COSM4883298 EP300 c.1659G>A p.L553L Substitution - coding silent Upper_aerodigestive_tract COSM4927718 ACTR6 c.67T>C p.S23P Substitution - Missense Liver COSM4950095 EPC1 c.313+2T>A p.? Unknown Liver COSM4992304 NSD1 c.5581C>T p.R1861* Substitution - Nonsense Skin COSM4984989 HNF1A c.1460G>A p.S487N Substitution - Missense Liver COSM4985403 KDM4D c.1497C>A p.D499E Substitution - Missense Soft_tissue COSM5011036 SP140 c.260A>G p.N87S Substitution - Missense Kidney COSM5019221 TRIM33 c.1303-10delT p.? Unknown Soft_tissue COSM5367064 KDM6A c.4194C>T p.S1398S Substitution - coding silent Large_intestine COSM5380132 KDM1A c.1292C>T p.S431F Substitution - Missense Skin COSM5411508 PHF2 c.702C>T p.T234T Substitution - coding silent Skin COSM5502718 BAP1 c.1345G>A p.A449T Substitution - Missense Biliary_tract COSM5518979 JMJD1C c.1019_1020insA p.D341fs*3 Insertion - Frameshift Biliary_tract COSM5473879 PCGF2 c.884C>G p.T295S Substitution - Missense Large_intestine COSM5445789 TDG c.292_293insA p.I98fs*6 Insertion - Frameshift Thyroid COSM5457257 DAXX c.281G>A p.R94H Substitution - Missense Stomach COSM5612487 ACTR6 c.516-1G>T p.? Unknown Adrenal_gland COSM5720373 KDM3B c.3621C>T p.A1207A Substitution - coding silent Skin COSM5748960 ZMYM3 c.2206C>T p.R736C Substitution - Missense Pancreas COSM5743030 TET2 c.3364A>G p.T1122A Substitution - Missense Small_intestine COSM5582104 PHIP c.4021T>A p.F1341I Substitution - Missense Skin COSM5600632 TCF20 c.4975A>T p.K1659* Substitution - Nonsense Skin COSM5664732 PYGO2 c.1173C>G p.V391V Substitution - coding silent Soft_tissue COSM5566115 NCOA6 c.1367G>A p.R456K Substitution - Missense Prostate COSM5574196 KMT2D c.11845C>T p.Q3949* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5931381 RUVBL1 c.773C>T p.S258F Substitution - Missense Skin COSM5990633 ARID1A c.2182C>T p.P728S Substitution - Missense Liver COSM6000184 CHD4 c.2601G>T p.W867C Substitution - Missense Prostate COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM34201 MSH6 c.? p.? Unknown Endometrium COSM1716587 BAP1 c.1251-?_1729+?del p.? Unknown Pleura COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM51384 IDH1 c.? p.R132L Substitution - Missense Bone COSM1716772 TET2 c.? p.Q916* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53310 IDH2 c.? p.R140L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43413 TET2 c.?_?ins? p.?fs Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM52006 TET2 c.? p.G613fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3738588 PHC1 c.2321C>G p.T774S Substitution - Missense Liver COSM330259 KMT2D c.12236C>T p.P4079L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM22638 MEN1 c.124G>A p.G42S Substitution - Missense Gastrointestinal_tract_(site_indeterminate) COSM5430459 BAZ1B c.850C>G p.L284V Substitution - Missense Oesophagus COSM4139285 PHF1 c.1042C>G p.L348V Substitution - Missense Pancreas COSM1724666 TCF20 c.737_739delCCT p.S246delS Deletion - In frame Skin COSM1045682 SMARCC1 c.569G>A p.R190Q Substitution - Missense Endometrium COSM5878803 DNMT3A c.1851+5G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5901772 BAZ2A c.2764C>T p.L922F Substitution - Missense Skin COSM4503072 BRWD1 c.6301C>T p.L2101F Substitution - Missense Skin COSM1674942 BRD3 c.833G>A p.R278Q Substitution - Missense Large_intestine COSM1735762 TET2 c.2737C>T p.Q913* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3916749 SETD5_ENST00000402198 c.2048C>T p.S683L Substitution - Missense Skin COSM5364018 RAI1 c.4153G>A p.V1385M Substitution - Missense Large_intestine COSM4635824 ATRX c.7420C>T p.R2474C Substitution - Missense Large_intestine COSM3059440 RUVBL1 c.1143G>A p.T381T Substitution - coding silent Large_intestine COSM3371073 MBD1 c.382C>T p.P128S Substitution - Missense Large_intestine COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3888285 GTF3C1 c.5497C>T p.Q1833* Substitution - Nonsense Skin COSM3283307 BRD4 c.605C>G p.A202G Substitution - Missense Lung COSM1600921 ASH1L c.8660A>C p.N2887T Substitution - Missense Liver COSM5460416 KMT2D c.9152G>A p.R3051Q Substitution - Missense Large_intestine COSM961987 TP53BP1 c.14G>A p.G5E Substitution - Missense Endometrium COSM3661225 PRDM8 c.158A>G p.D53G Substitution - Missense Liver COSM1722309 MYST3 c.5079A>C p.P1693P Substitution - coding silent Thyroid COSM677845 TDRD5 c.637G>C p.A213P Substitution - Missense Lung COSM4608549 MGA c.5550C>A p.F1850L Substitution - Missense Adrenal_gland COSM3416663 ATF7IP c.1819T>G p.L607V Substitution - Missense Large_intestine COSM2155319 MBD6 c.373T>G p.S125A Substitution - Missense Central_nervous_system COSM3528107 DNMT1 c.1117G>A p.D373N Substitution - Missense Skin COSM221095 KMT2D c.4304_4305delCA p.R1436fs*22 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM306072 EZH2 c.2051G>A p.R684H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4682161 EZH2 c.744C>T p.T248T Substitution - coding silent Large_intestine COSM4701383 MECOM c.2201C>T p.T734I Substitution - Missense Large_intestine COSM3614500 NSD1 c.2612C>T p.S871F Substitution - Missense Skin COSM4081179 TFPT c.39G>T p.V13V Substitution - coding silent Stomach COSM4671301 CDYL2 c.748C>T p.R250* Substitution - Nonsense Large_intestine COSM2270919 MGA c.7947G>A p.P2649P Substitution - coding silent Large_intestine COSM41294 IDH1 c.? p.R132C Substitution - Missense Biliary_tract COSM1740485 SMARCA4 c.3404G>A p.R1135Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3844990 KDM5C c.3881A>T p.Q1294L Substitution - Missense Breast COSM1096249 PHF20L1 c.229G>T p.G77W Substitution - Missense Endometrium COSM5676315 WHSC1L1 c.1581+1G>A p.? Unknown Soft_tissue COSM3955469 RNF17 c.1079C>A p.P360Q Substitution - Missense Lung COSM1039194 ZBTB38 c.739A>G p.N247D Substitution - Missense Endometrium COSM478238 EYA2 c.580C>A p.P194T Substitution - Missense Kidney COSM431203 KMT2D c.10026G>A p.Q3342Q Substitution - coding silent Soft_tissue COSM730371 ZCWPW2 c.312A>T p.V104V Substitution - coding silent Lung COSM5902299 DAXX c.343C>T p.R115W Substitution - Missense Skin COSM5879032 TET2 c.4080_4081GG>C p.G1361fs*2 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM1318847 ASXL1 c.2197C>T p.Q733* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4623811 DNMT1 c.4287C>A p.P1429P Substitution - coding silent Large_intestine COSM1625939 SUV39H1 c.1065C>T p.I355I Substitution - coding silent Liver COSM3433094 TAF1L c.918C>G p.S306R Substitution - Missense Large_intestine COSM1215014 MGA c.7333C>T p.R2445* Substitution - Nonsense Liver COSM934528 PRDM4 c.300G>A p.L100L Substitution - coding silent Endometrium COSM5423507 PRDM2 c.1859T>C p.V620A Substitution - Missense Prostate COSM3525843 SETBP1 c.226G>A p.D76N Substitution - Missense Skin COSM1412232 ZMYND8 c.3011A>T p.N1004I Substitution - Missense Large_intestine COSM4232590 LBR c.902C>T p.A301V Substitution - Missense Upper_aerodigestive_tract COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM942096 MBD6 c.2965C>T p.R989C Substitution - Missense Endometrium COSM1184487 BAZ2A_ENST00000379441 c.5377C>T p.R1793W Substitution - Missense Large_intestine COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM739333 NCOA7 c.238A>G p.R80G Substitution - Missense Lung COSM4162024 KMT2C c.946A>T p.T316S Substitution - Missense Upper_aerodigestive_tract COSM3643071 ZCWPW1 c.1862T>C p.V621A Substitution - Missense Skin COSM302527 L3MBTL4 c.1101G>A p.T367T Substitution - coding silent Central_nervous_system COSM4988534 ARID1A c.358C>T p.P120S Substitution - Missense Soft_tissue COSM5046703 TP53BP1 c.4532G>A p.G1511E Substitution - Missense Oesophagus COSM21288 BRD3 c.71delC p.P24fs*24 Deletion - Frameshift Stomach COSM42047 TET2 c.1954C>T p.Q652* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4045330 PHC1 c.2416T>A p.Y806N Substitution - Missense Stomach COSM2874515 PRDM14 c.1308_1309delCT p.C437fs*5 Deletion - Frameshift Large_intestine COSM4669574 CBX6 c.698C>T p.A233V Substitution - Missense Large_intestine COSM3992708 RUVBL1 c.308C>T p.S103L Substitution - Missense Kidney COSM5770855 GLYR1 c.343G>C p.E115Q Substitution - Missense Breast COSM3686358 HDAC9 c.2937+3delA p.? Unknown Large_intestine COSM5944151 DAXX c.1407G>C p.Q469H Substitution - Missense Bone COSM4433253 PHF2 c.3085G>A p.A1029T Substitution - Missense Oesophagus COSM955478 BAZ1A c.161G>A p.C54Y Substitution - Missense Endometrium COSM1609873 NCOR1 c.6502T>C p.L2168L Substitution - coding silent Liver COSM5982660 TAF3 c.105G>C p.T35T Substitution - coding silent Upper_aerodigestive_tract COSM1710681 BPTF c.7676C>T p.P2559L Substitution - Missense Skin COSM1106548 BRD3 c.1117G>A p.A373T Substitution - Missense Large_intestine COSM3422497 BRD4 c.15C>T p.S5S Substitution - coding silent Stomach COSM3728097 HDAC4 c.2686G>A p.G896S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3615195 PRDM9 c.516G>A p.R172R Substitution - coding silent Skin COSM4689689 HDAC5 c.249C>T p.L83L Substitution - coding silent Large_intestine COSM3711480 PRMT5 c.20G>T p.G7V Substitution - Missense Upper_aerodigestive_tract COSM126567 BAZ2A_ENST00000379441 c.1082C>G p.S361* Substitution - Nonsense Upper_aerodigestive_tract COSM4149330 BAZ1B c.2441G>C p.G814A Substitution - Missense Ovary COSM288679 MSH6 c.3964G>T p.E1322* Substitution - Nonsense Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4961307 SMARCC1 c.3044-1G>A p.? Unknown Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1717688 SMARCC2 c.3401A>C p.N1134T Substitution - Missense Thyroid COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5413027 ZMYM3 c.1207C>T p.P403S Substitution - Missense Skin COSM3547342 EYA2 c.1258C>T p.L420F Substitution - Missense Skin COSM4573521 TRDMT1 c.186C>T p.L62L Substitution - coding silent Bone COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5723506 TDRD5 c.1217G>A p.W406* Substitution - Nonsense Skin COSM3501437 TP53BP1 c.273C>T p.D91D Substitution - coding silent Skin COSM4627687 SIRT6 c.1059C>T p.V353V Substitution - coding silent Large_intestine COSM3514552 NCOR1 c.6386G>A p.R2129K Substitution - Missense Skin COSM691224 EED c.788G>T p.W263L Substitution - Missense Lung COSM3505539 CHD2 c.2578-2A>G p.? Unknown Skin COSM5993848 SMEK2 c.1558T>G p.Y520D Substitution - Missense Prostate COSM3378484 ASXL3 c.2682C>T p.N894N Substitution - coding silent Pancreas COSM3382536 KIAA2026_ENST00000399933 c.5433G>A p.S1811S Substitution - coding silent Large_intestine COSM2910878 ING5 c.252G>A p.Q84Q Substitution - coding silent Large_intestine COSM318351 EP300 c.3996C>T p.T1332T Substitution - coding silent Lung COSM23051 MEN1 c.1546_1547insC p.R516fs*15 Insertion - Frameshift Large_intestine COSM4822740 PSIP1 c.262C>T p.P88S Substitution - Missense Cervix COSM1341387 ARID1A c.607_608insA p.H203fs*197 Insertion - Frameshift Large_intestine COSM988388 SETBP1 c.3324G>A p.K1108K Substitution - coding silent Endometrium COSM5798469 EYA2 c.1443G>C p.E481D Substitution - Missense Breast COSM1066272 NSD1 c.4878T>G p.T1626T Substitution - coding silent Endometrium COSM1603619 JMJD1C c.5990A>T p.N1997I Substitution - Missense Liver COSM97077 TET2 c.? p.G1719R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4754051 KDM4A c.2419T>G p.F807V Substitution - Missense Stomach COSM4397423 TAF1L c.1893C>T p.I631I Substitution - coding silent Skin COSM3460959 ARID2 c.284+1G>A p.? Unknown Skin COSM3769863 TP53BP1 c.5765C>A p.T1922K Substitution - Missense Soft_tissue COSM4146853 EP400 c.6646A>C p.T2216P Substitution - Missense Upper_aerodigestive_tract COSM1343975 PHF13 c.65G>A p.R22H Substitution - Missense Large_intestine COSM1444908 TDRD6 c.6160G>A p.E2054K Substitution - Missense Large_intestine COSM13385 MSH6 c.1190A>G p.Y397C Substitution - Missense Urinary_tract COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4046362 ZMYM2 c.3090C>T p.G1030G Substitution - coding silent Stomach COSM1101447 EYA1 c.1603G>T p.E535* Substitution - Nonsense Endometrium COSM3710767 KMT2D c.9765G>T p.L3255L Substitution - coding silent Upper_aerodigestive_tract COSM5645084 ARID1A c.3464C>A p.A1155E Substitution - Missense Oesophagus COSM5708585 TBL1XR1 c.920A>G p.H307R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3754332 TP53BP1 c.1234G>A p.G412S Substitution - Missense Soft_tissue COSM3865336 PRDM16 c.2398G>A p.E800K Substitution - Missense Skin COSM4140102 MBD1 c.392+3G>T p.? Unknown Ovary COSM3699499 GTF3C4 c.1474A>T p.I492F Substitution - Missense Large_intestine COSM1035243 BRD1 c.1792G>T p.D598Y Substitution - Missense Endometrium COSM4385498 PHF6 c.469delA p.S158fs*60 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM232567 KDM6B c.3409C>A p.H1137N Substitution - Missense Skin COSM4529792 CHD1 c.1642G>A p.E548K Substitution - Missense Skin COSM1718382 CDYL2 c.533G>A p.G178D Substitution - Missense Skin COSM5032130 PHIP c.1225C>G p.R409G Substitution - Missense Pancreas COSM5783372 KMT2C c.1252C>G p.L418V Substitution - Missense Breast COSM94733 MSH6 c.3146C>T p.S1049F Substitution - Missense Breast COSM1611968 DOT1L c.3542C>T p.S1181F Substitution - Missense Liver COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1472719 ASH1L c.3490_3492delCCT p.P1164delP Deletion - In frame Breast COSM1564945 TRIM28 c.1611G>A p.A537A Substitution - coding silent Large_intestine COSM488462 KDM5C c.1606G>T p.G536W Substitution - Missense Kidney COSM329250 CHD8 c.5488C>T p.R1830C Substitution - Missense Stomach COSM122403 CTCF c.1396G>A p.G466S Substitution - Missense Upper_aerodigestive_tract COSM2175959 KDM2B c.264G>A p.T88T Substitution - coding silent Prostate COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5019600 ARID1B c.3960-7A>G p.? Unknown Soft_tissue COSM1183572 ARID2 c.881G>T p.R294I Substitution - Missense Skin COSM4822686 MBD6 c.699C>G p.L233L Substitution - coding silent Cervix COSM3201878 DPF1 c.725G>A p.C242Y Substitution - Missense Large_intestine COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5793675 MGA c.3000C>T p.D1000D Substitution - coding silent Breast COSM3523236 CBX8 c.995C>T p.S332F Substitution - Missense Skin COSM5686772 SHPRH c.348A>T p.L116L Substitution - coding silent Soft_tissue COSM4991524 EP300 c.961C>T p.Q321* Substitution - Nonsense Skin COSM5699709 PRDM10 c.3353C>T p.P1118L Substitution - Missense Soft_tissue COSM3733336 KMT2C c.2263C>T p.Q755* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5347074 ARID1A c.6785C>T p.S2262L Substitution - Missense Endometrium COSM3703901 HNF1A c.1774T>C p.S592P Substitution - Missense Liver COSM5634479 KMT2D c.4162G>T p.E1388* Substitution - Nonsense Oesophagus COSM1667867 TTF2 c.2348T>C p.L783P Substitution - Missense Large_intestine COSM977572 SUZ12 c.2013A>G p.I671M Substitution - Missense Endometrium COSM3727925 ARID1A c.4709C>G p.S1570C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM720955 HDAC4 c.2916C>T p.L972L Substitution - coding silent Lung COSM1672250 JARID2 c.2960C>T p.P987L Substitution - Missense Large_intestine COSM3830349 BRPF3 c.2532A>C p.A844A Substitution - coding silent Breast COSM1636610 ATRX c.3788A>G p.D1263G Substitution - Missense Liver COSM992 SMARCB1 c.472C>T p.R158* Substitution - Nonsense Soft_tissue COSM3403338 CBX2 c.870G>A p.L290L Substitution - coding silent Central_nervous_system COSM4509548 MGA c.8255C>T p.S2752F Substitution - Missense Skin COSM2726749 PHF6 c.457C>T p.P153S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM231560 DNMT3A c.2206C>T p.R736C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5967249 ASXL1 c.? p.G869fs*8 Frameshift Haematopoietic_and_lymphoid_tissue COSM1495211 EP300 c.6597A>G p.P2199P Substitution - coding silent Kidney COSM1409836 KDM3A c.1664G>A p.R555H Substitution - Missense Large_intestine COSM48859 BAP1 c.1153C>T p.R385* Substitution - Nonsense Eye COSM5714672 WHSC1 c.2791A>G p.T931A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4997175 SRCAP c.8981C>A p.T2994N Substitution - Missense Upper_aerodigestive_tract COSM3878486 TIF1 c.1016G>A p.R339H Substitution - Missense Large_intestine COSM1329659 TDRD6 c.1558A>C p.M520L Substitution - Missense Ovary COSM737902 NIPBL c.3969G>T p.M1323I Substitution - Missense Lung COSM149231 PRDM15 c.891+4C>T p.? Unknown Stomach COSM3818892 NCOR1 c.3086C>A p.P1029Q Substitution - Missense Breast COSM1468060 KDM6A c.1444G>A p.A482T Substitution - Missense Large_intestine COSM3559618 HCFC1 c.4351G>A p.D1451N Substitution - Missense Skin COSM6000432 HDAC7 c.1570T>G p.Y524D Substitution - Missense Prostate COSM96347 ASXL1 c.? p.G646fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM1741914 SIRT1 c.1278G>T p.M426I Substitution - Missense Urinary_tract COSM363944 PBRM1 c.1393C>T p.P465S Substitution - Missense Lung COSM4624313 DIDO1 c.3751G>A p.A1251T Substitution - Missense Large_intestine COSM118758 DIDO1 c.4056C>T p.D1352D Substitution - coding silent Ovary COSM2192883 ORC1 c.1646G>A p.R549H Substitution - Missense Large_intestine COSM1617606 SETMAR c.437C>T p.T146M Substitution - Missense Liver COSM2151411 SMYD2 c.1032C>A p.Y344* Substitution - Nonsense Central_nervous_system COSM178446 SMCHD1 c.3869C>T p.A1290V Substitution - Missense Breast COSM1348577 JMJD1C c.5364delA p.E1789fs*45 Deletion - Frameshift Stomach COSM3839134 NCOA1 c.2646A>T p.Q882H Substitution - Missense Breast COSM1307403 CHD6 c.5670A>T p.V1890V Substitution - coding silent Urinary_tract COSM4406794 HCFC1 c.2539C>T p.L847F Substitution - Missense Pancreas COSM4998996 TAF1L c.1420G>T p.A474S Substitution - Missense Pancreas COSM1602154 ARID1A c.5683G>T p.E1895* Substitution - Nonsense Liver COSM3820327 BPTF c.2908G>C p.D970H Substitution - Missense Breast COSM169485 GABRG1 c.643G>A p.E215K Substitution - Missense Skin COSM1099905 MYST3 c.5103G>A p.P1701P Substitution - coding silent Endometrium COSM2154602 SETD8 c.801C>A p.S267S Substitution - coding silent Central_nervous_system COSM3936242 ING1 c.178C>T p.R60C Substitution - Missense Oesophagus COSM5813825 MYST3 c.318A>T p.A106A Substitution - coding silent Liver COSM4147096 KMT2D c.8230C>T p.L2744L Substitution - coding silent Thyroid COSM1222117 PRMT8 c.854C>T p.T285M Substitution - Missense Large_intestine COSM3773771 NCOR1 c.549G>A p.Q183Q Substitution - coding silent Upper_aerodigestive_tract COSM4443425 DIDO1 c.3373G>A p.A1125T Substitution - Missense Large_intestine COSM3398544 EP400 c.5675A>G p.D1892G Substitution - Missense Central_nervous_system COSM4040538 ATF7IP c.2183C>A p.P728H Substitution - Missense Stomach COSM4597806 BAZ2A_ENST00000379441 c.3623C>T p.P1208L Substitution - Missense Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM24904 HNF1A c.653A>G p.Y218C Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4540518 TP53BP1 c.2839G>A p.E947K Substitution - Missense Skin COSM1045453 SETD2 c.3769-1G>T p.? Unknown Large_intestine COSM1729799 PHIP c.1136+1G>A p.? Unknown Liver COSM88751 CREBBP c.4448T>G p.I1483S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1583110 DNMT3A c.2193_2194insT p.E733fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1262035 PHF12 c.326G>T p.R109L Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4100181 DIDO1 c.4551G>T p.S1517S Substitution - coding silent Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4007335 ZMYM1 c.774T>G p.F258L Substitution - Missense Stomach COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1607480 CHD8 c.6906A>T p.E2302D Substitution - Missense Liver COSM1093587 TRRAP c.2534G>T p.G845V Substitution - Missense Endometrium COSM3700459 TRIM33 c.2988T>C p.I996I Substitution - coding silent Liver COSM3818088 CHD9 c.4234C>T p.R1412W Substitution - Missense Breast COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM5697069 SP140_ENST00000392045 c.227A>T p.Q76L Substitution - Missense Soft_tissue COSM4603312 EP400 c.8184_8185insCAG p.Q2748_T2749insQ Insertion - In frame Upper_aerodigestive_tract COSM4628872 TAF1L c.1355T>G p.L452R Substitution - Missense Large_intestine COSM4840053 HDAC5 c.2557A>G p.K853E Substitution - Missense Cervix COSM3450134 GLYATL1 c.385A>G p.K129E Substitution - Missense Skin COSM4463100 KMT2D c.11950C>T p.Q3984* Substitution - Nonsense Upper_aerodigestive_tract COSM1425732 SETD5_ENST00000402198 c.588G>A p.Q196Q Substitution - coding silent Large_intestine COSM4694040 KAT2A c.1395C>A p.T465T Substitution - coding silent Large_intestine COSM1583128 DNMT3A c.2656C>G p.Q886E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41741 TET2 c.5618T>C p.I1873T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1732035 SETD2 c.4833delT p.N1611fs*33 Deletion - Frameshift Kidney COSM1615691 NCOA3 c.20A>G p.N7S Substitution - Missense Liver COSM3642848 TRRAP c.11178C>T p.V3726V Substitution - coding silent Skin COSM3594171 SETMAR c.299C>T p.S100L Substitution - Missense Skin COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2879336 CXXC1 c.325C>T p.R109C Substitution - Missense Large_intestine COSM13398 MSH6 c.1168G>A p.D390N Substitution - Missense Endometrium COSM4779927 PHF14 c.1455+4G>A p.? Unknown Liver COSM1605323 TRIM66 c.1397A>C p.H466P Substitution - Missense Liver COSM416982 BRD7 c.561C>T p.N187N Substitution - coding silent Urinary_tract COSM4150403 INTS12 c.852G>C p.S284S Substitution - coding silent Ovary COSM1242013 ASH2L c.1349C>A p.P450H Substitution - Missense Oesophagus COSM4635832 SMNDC1 c.286G>A p.E96K Substitution - Missense Large_intestine COSM1711947 BRD4 c.991_992CC>TT p.P331L Substitution - Missense Skin COSM3175972 PHIP c.3209A>G p.D1070G Substitution - Missense Large_intestine COSM2741686 ZBTB4 c.94G>A p.V32I Substitution - Missense Pancreas COSM5353908 MBD5 c.467delT p.T157fs*4 Deletion - Frameshift Large_intestine COSM1563141 SRCAP c.9235C>T p.R3079W Substitution - Missense Large_intestine COSM277767 TP53BP1 c.3146G>A p.R1049Q Substitution - Missense Large_intestine COSM428496 KMT2A c.2698C>T p.Q900* Substitution - Nonsense Breast COSM96356 BAP1 c.1952_1953insG p.E652fs*12 Insertion - Frameshift Pleura COSM3669590 RING1 c.1107C>A p.G369G Substitution - coding silent Liver COSM4759203 TRRAP c.6797G>T p.S2266I Substitution - Missense Stomach COSM990433 DNMT1 c.4394G>A p.G1465D Substitution - Missense Endometrium COSM3656509 SMARCA2 c.2830C>T p.P944S Substitution - Missense Skin COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24918 HNF1A c.618G>C p.W206C Substitution - Missense Liver COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM22591 MEN1 c.342delC p.R115fs*4 Deletion - Frameshift Parathyroid COSM51982 BAP1 c.621_636del16 p.R208fs*18 Deletion - Frameshift Eye COSM51245 ARID1A c.608_609insA p.H203fs*197 Insertion - Frameshift Ovary COSM75197 L3MBTL3 c.937G>A p.A313T Substitution - Missense Large_intestine COSM73859 BRD4 c.374G>A p.C125Y Substitution - Missense Ovary COSM97864 ARID1A c.1876G>T p.E626* Substitution - Nonsense Upper_aerodigestive_tract COSM96413 CREBBP c.2678C>T p.S893L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM125778 RBBP5 c.222G>T p.W74C Substitution - Missense Upper_aerodigestive_tract COSM149512 MECOM c.236A>T p.E79V Substitution - Missense Stomach COSM184236 ARID1A c.2077C>T p.R693* Substitution - Nonsense Endometrium COSM247263 SETD2 c.5037T>C p.P1679P Substitution - coding silent Prostate COSM239627 DNMT1 c.4039G>A p.D1347N Substitution - Missense Prostate COSM253092 RUVBL1 c.514-3delT p.? Unknown Ovary COSM259505 ARID4A c.3654A>C p.K1218N Substitution - Missense Large_intestine COSM274063 ATAD2 c.3808T>C p.C1270R Substitution - Missense Large_intestine COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Large_intestine COSM327337 TET2 c.2599T>C p.Y867H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM329524 PHC3 c.1399C>G p.H467D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM363004 ASH2L c.1480G>A p.E494K Substitution - Missense Lung COSM396841 KMT2A c.5631G>C p.L1877F Substitution - Missense Lung COSM435236 CREBBP c.6303C>G p.I2101M Substitution - Missense Breast COSM470409 SETD3 c.41C>T p.T14I Substitution - Missense Kidney COSM975880 NCOR1 c.2797C>T p.R933* Substitution - Nonsense Large_intestine COSM1027963 ADNP c.3009C>T p.S1003S Substitution - coding silent Upper_aerodigestive_tract COSM1018700 ATAD2B_ENST00000238789 c.272G>A p.R91H Substitution - Missense Endometrium COSM756632 SCML2 c.640G>C p.D214H Substitution - Missense Lung COSM929370 PHRF1 c.2605_2606insT p.A869fs*47 Insertion - Frameshift Endometrium COSM1040963 MECOM c.2249G>A p.R750Q Substitution - Missense Pancreas COSM969249 GTF3C1 c.4628C>T p.S1543F Substitution - Missense Endometrium COSM1109521 UHRF2 c.26A>G p.D9G Substitution - Missense Endometrium COSM1122979 KDM5C c.230C>T p.A77V Substitution - Missense Endometrium COSM1087663 KMT2C c.929G>C p.C310S Substitution - Missense Endometrium COSM1239816 PHC1 c.282G>A p.Q94Q Substitution - coding silent Oesophagus COSM1233253 ZCWPW1 c.104A>C p.N35T Substitution - Missense Large_intestine COSM1166773 PRDM2 c.849_850delTG p.D283fs*2 Deletion - Frameshift Large_intestine COSM1250794 DUSP1 c.55delG p.E19fs*131 Deletion - Frameshift Oesophagus COSM1247998 CDYL2 c.684G>A p.K228K Substitution - coding silent Skin COSM1209399 HDAC9 c.68C>A p.P23H Substitution - Missense Large_intestine COSM1180830 CTCF c.603_604insA p.T204fs*26 Insertion - Frameshift Stomach COSM1163731 ADNP c.3047delA p.K1016fs*11 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1162620 PHF3 c.5758C>T p.R1920C Substitution - Missense Pancreas COSM1162748 BRD9 c.928A>T p.M310L Substitution - Missense Upper_aerodigestive_tract COSM1262957 PRDM9 c.631T>G p.F211V Substitution - Missense Large_intestine COSM1266216 SMARCA2 c.666A>G p.Q222Q Substitution - coding silent Oesophagus COSM1159236 STK31 c.1900A>G p.K634E Substitution - Missense Pancreas COSM1603245 SUV39H2 c.231G>A p.L77L Substitution - coding silent Liver COSM1299659 SMARCC2 c.911C>G p.S304C Substitution - Missense Urinary_tract COSM1406731 ATAD2B_ENST00000238789 c.2303G>A p.R768H Substitution - Missense Stomach COSM1409367 SMYD5 c.331G>T p.A111S Substitution - Missense Large_intestine COSM1466196 FMR1 c.362C>T p.A121V Substitution - Missense Large_intestine COSM1356509 SUV420H1 c.792G>A p.W264* Substitution - Nonsense Large_intestine COSM1363750 CHD4 c.3334T>C p.F1112L Substitution - Missense Stomach COSM1365736 ZMYM2 c.3742delA p.N1250fs*3 Deletion - Frameshift Large_intestine COSM1549485 HDAC9 c.1334G>A p.R445H Substitution - Missense Large_intestine COSM1608849 CHD2 c.500A>G p.E167G Substitution - Missense Liver COSM1495555 DHX30 c.340G>A p.A114T Substitution - Missense Kidney COSM1492045 ZMYM4 c.2114G>A p.G705D Substitution - Missense Kidney COSM1486317 BRD8 c.779C>A p.A260D Substitution - Missense Breast COSM1488103 MLL5 c.4214C>T p.S1405L Substitution - Missense Breast COSM1493050 CHD4 c.529A>G p.N177D Substitution - Missense Kidney COSM1613552 BAZ2B c.3330T>C p.D1110D Substitution - coding silent Liver COSM1578323 CHD9 c.2334A>G p.V778V Substitution - coding silent Lung COSM1578427 PHF2 c.2963_2964ins15 p.T996_S997insTPAST Insertion - In frame Large_intestine COSM1626239 ATRX c.662G>A p.R221K Substitution - Missense Central_nervous_system COSM1682743 BRWD3 c.4003C>A p.P1335T Substitution - Missense Large_intestine COSM1680660 SMARCA4 c.2767G>C p.A923P Substitution - Missense Kidney COSM1688027 BRDT c.563C>T p.P188L Substitution - Missense Skin COSM1709077 SRCAP c.4301C>T p.P1434L Substitution - Missense Skin COSM1754902 PHF3 c.5311T>C p.C1771R Substitution - Missense Urinary_tract COSM1753235 SETD2 c.2999C>T p.P1000L Substitution - Missense Urinary_tract COSM1751550 DIDO1 c.1863A>G p.A621A Substitution - coding silent Urinary_tract COSM2156385 GLYR1 c.1027G>A p.G343S Substitution - Missense Central_nervous_system COSM2229122 EP400 c.4311C>T p.P1437P Substitution - coding silent Stomach COSM2802640 KDM6B c.4188C>T p.F1396F Substitution - coding silent Liver COSM3068850 SETD2 c.5634delC p.S1879fs*29 Deletion - Frameshift Stomach COSM3160225 PHF3 c.106G>A p.A36T Substitution - Missense Upper_aerodigestive_tract COSM3259706 EZH2 c.36A>G p.P12P Substitution - coding silent Upper_aerodigestive_tract COSM3304725 KMT2C c.427delA p.S143fs*3 Deletion - Frameshift Large_intestine COSM3371954 HDAC10 c.975G>A p.P325P Substitution - coding silent Breast COSM3403490 AP001011.3_ENST00000320876 c.4298G>A p.C1433Y Substitution - Missense Central_nervous_system COSM3508991 SETD1A c.4458C>T p.P1486P Substitution - coding silent Skin COSM3415346 BTAF1 c.1694G>A p.R565Q Substitution - Missense Large_intestine COSM3455600 PRDM4 c.2009G>A p.G670E Substitution - Missense Skin COSM3615940 NIPBL c.2177A>T p.K726I Substitution - Missense Skin COSM3620804 EYA4 c.952G>A p.G318R Substitution - Missense Skin COSM3626167 BRPF3 c.2025C>T p.F675F Substitution - coding silent Skin COSM3545252 ASXL1 c.1700C>T p.P567L Substitution - Missense Skin COSM3551841 PRMT2 c.1083C>T p.T361T Substitution - coding silent Skin COSM3655407 BRD3 c.2059C>T p.R687W Substitution - Missense Skin COSM3655143 GTF3C4 c.905C>T p.S302L Substitution - Missense Skin COSM3669743 ACTB c.124-1G>T p.? Unknown Liver COSM3670038 KDM4C c.1423A>G p.R475G Substitution - Missense Liver COSM3714655 ACTR8 c.527C>T p.P176L Substitution - Missense Upper_aerodigestive_tract COSM3715066 NIPBL c.4934A>G p.E1645G Substitution - Missense Upper_aerodigestive_tract COSM3750649 TDRD5 c.378G>C p.R126S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3752792 TRIM66 c.1397A>G p.H466R Substitution - Missense Upper_aerodigestive_tract COSM3750310 PRDM2 c.4824A>G p.S1608S Substitution - coding silent Oesophagus COSM3842812 TCF20 c.1926T>G p.G642G Substitution - coding silent Breast COSM3825265 SMARCA5 c.1378C>T p.P460S Substitution - Missense Breast COSM3843512 SMARCA1 c.1149C>T p.L383L Substitution - coding silent Breast COSM3879517 KMT2C c.11790C>T p.A3930A Substitution - coding silent Large_intestine COSM3893363 TFPT c.245A>C p.Y82S Substitution - Missense Skin COSM3965536 ATRX c.3737-1G>T p.? Unknown Lung COSM3964936 MECP2 c.1265G>A p.G422D Substitution - Missense Lung COSM4098469 CHD6 c.1271A>C p.K424T Substitution - Missense Stomach COSM4092776 HDAC4 c.2929G>A p.D977N Substitution - Missense Stomach COSM4067327 CBX1 c.88C>T p.R30* Substitution - Nonsense Stomach COSM4147292 SMARCC2 c.3577A>C p.T1193P Substitution - Missense Prostate COSM4147726 SETDB2 c.1452A>G p.Q484Q Substitution - coding silent Thyroid COSM4161698 MLL5 c.5326C>A p.Q1776K Substitution - Missense Thyroid COSM4169201 SMEK2 c.1628G>A p.R543Q Substitution - Missense Oesophagus COSM4169985 MUM1 c.31C>T p.R11* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4170156 TET2 c.2513delC p.T838fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4166142 TET2 c.1581_1581delC p.D527fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4170425 KMT2D c.7228C>T p.Q2410* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4172350 TET2 c.5253_5254insA p.N1753fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4288486 TRIM28 c.2433G>C p.E811D Substitution - Missense Upper_aerodigestive_tract COSM4385385 KDM6A c.3143G>A p.R1048K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4383955 TET2 c.4786delA p.N1596fs*14 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4384284 EZH2 c.1154G>C p.S385T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384304 KMT2C c.13336G>A p.A4446T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4432237 C5orf35 c.768G>A p.L256L Substitution - coding silent Oesophagus COSM4485704 RERE c.2961C>T p.P987P Substitution - coding silent Skin COSM4434997 ATAD2B_ENST00000238789 c.2940T>C p.F980F Substitution - coding silent Oesophagus COSM4729949 SRCAP c.8610A>G p.P2870P Substitution - coding silent Large_intestine COSM4666126 BRD8 c.1605G>A p.E535E Substitution - coding silent Large_intestine COSM4703486 MTA1 c.1459C>T p.R487C Substitution - Missense Large_intestine COSM4693793 JARID2 c.323+2T>C p.? Unknown Large_intestine COSM4663224 ARID1A c.3334G>C p.D1112H Substitution - Missense Large_intestine COSM4611878 PHF2 c.1467_1468insA p.T493fs*21 Insertion - Frameshift Large_intestine COSM4608487 ZMYM2 c.1805G>T p.G602V Substitution - Missense Adrenal_gland COSM4644695 PRDM13 c.505G>A p.A169T Substitution - Missense Large_intestine COSM4773897 SCML2 c.487-1G>A p.? Unknown Stomach COSM4758546 SMYD1 c.541G>A p.G181S Substitution - Missense Stomach COSM4800898 ATAD2 c.2231T>A p.L744Q Substitution - Missense Liver COSM4936757 JMJD1C c.5206-10C>T p.? Unknown Liver COSM4829433 CARM1 c.330G>C p.Q110H Substitution - Missense Cervix COSM4833324 BAZ1B c.1026G>C p.L342F Substitution - Missense Cervix COSM4966980 CHD6 c.3705G>A p.M1235I Substitution - Missense Small_intestine COSM4994619 PRDM5 c.1537+8G>C p.? Unknown Large_intestine COSM4986331 SETD8 c.47C>A p.A16E Substitution - Missense Soft_tissue COSM5018698 EP400 c.452_453delGT p.A152fs*111 Deletion - Frameshift Soft_tissue COSM5053548 RAD54L c.1625G>A p.R542H Substitution - Missense Stomach COSM5120260 ATRX c.1162A>C p.K388Q Substitution - Missense Large_intestine COSM5364570 SMCHD1 c.494C>T p.A165V Substitution - Missense Large_intestine COSM5382082 PRMT5 c.267G>A p.W89* Substitution - Nonsense Skin COSM5511165 NCOA3 c.3497delC p.K1168fs*17 Deletion - Frameshift Biliary_tract COSM5492107 PHIP c.1784G>A p.G595D Substitution - Missense Biliary_tract COSM5495116 MTA2 c.272C>T p.S91F Substitution - Missense Biliary_tract COSM5472381 KMT2C c.7915G>A p.V2639I Substitution - Missense Large_intestine COSM5632495 TDRD1 c.1961A>G p.D654G Substitution - Missense Oesophagus COSM5758667 GLYATL1 c.80G>C p.S27T Substitution - Missense Bone COSM5654617 PRDM2 c.466C>T p.R156* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5755323 DOT1L c.1004G>A p.R335K Substitution - Missense Large_intestine COSM5735568 PRMT6 c.485G>A p.C162Y Substitution - Missense Small_intestine COSM5608141 CREBBP c.4240G>A p.V1414I Substitution - Missense Skin COSM5658750 CREBBP c.1942-2A>G p.? Unknown Liver COSM5673710 SFMBT1 c.1989A>T p.K663N Substitution - Missense Soft_tissue COSM5783672 SETD6 c.925C>A p.H309N Substitution - Missense Breast COSM5878951 TET2 c.1591C>T p.Q531* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5802064 PRDM13 c.139delA p.K48fs*5 Deletion - Frameshift Breast COSM5883074 DOT1L c.42G>A p.G14G Substitution - coding silent Soft_tissue COSM5941007 DIDO1 c.1783C>T p.P595S Substitution - Missense Skin COSM5887210 DNMT3A c.1668-3C>T p.? Unknown Skin COSM5924227 DNMT3A c.2083-8C>T p.? Unknown Skin COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM144629 PHF6 c.? p.R274* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4955813 PRDM15 c.1398C>T p.D466D Substitution - coding silent Liver COSM3563258 HDAC8 c.427C>T p.H143Y Substitution - Missense Skin COSM1314177 PRDM14 c.1129C>T p.P377S Substitution - Missense Urinary_tract COSM5669836 MECP2 c.758G>T p.R253M Substitution - Missense Soft_tissue COSM4070652 BAHCC1 c.1251A>G p.A417A Substitution - coding silent Stomach COSM36248 IDH1 c.? p.R132? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5945050 TET2 c.3954+1G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM219174 HDAC9 c.2819C>T p.T940M Substitution - Missense Breast COSM3662184 SHPRH c.2983C>T p.Q995* Substitution - Nonsense Liver COSM4728433 AP001011.3_ENST00000320876 c.3882G>T p.P1294P Substitution - coding silent Large_intestine COSM1661671 EP300 c.7109A>T p.N2370I Substitution - Missense Kidney COSM4806315 SUV420H1 c.2174A>G p.D725G Substitution - Missense Liver COSM1386956 CBX4 c.1523_1524insGGCGGC p.A510_P511insAA Insertion - In frame Large_intestine COSM3624657 BAG6 c.1218C>T p.S406S Substitution - coding silent Skin COSM437707 CBX8 c.986G>A p.G329E Substitution - Missense Breast COSM1753358 ATXN7 c.1501G>C p.E501Q Substitution - Missense Urinary_tract COSM5905686 TDRD6 c.2842T>C p.C948R Substitution - Missense Skin COSM3598866 TET2 c.3024G>A p.K1008K Substitution - coding silent Skin COSM4590380 KMT2C c.7443A>T p.R2481S Substitution - Missense Upper_aerodigestive_tract COSM737906 NIPBL c.3354A>G p.E1118E Substitution - coding silent Lung COSM241835 TAF3 c.283C>A p.Q95K Substitution - Missense Prostate COSM5408364 TRRAP c.7960C>T p.L2654L Substitution - coding silent Skin COSM1578599 TAF1L c.4261A>G p.T1421A Substitution - Missense Meninges COSM5878757 DNMT3A c.2297delA p.K766fs*13 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM460129 RERE c.1314G>A p.W438* Substitution - Nonsense Cervix COSM1756575 KDM6A c.884C>G p.S295* Substitution - Nonsense Urinary_tract COSM401988 SMYD1 c.995G>T p.C332F Substitution - Missense Lung COSM3422368 DNMT1 c.679T>G p.S227A Substitution - Missense Large_intestine COSM4568086 SMARCA1 c.2781_2782AC>TT p.Q927_R928>H* Complex - compound substitution Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM4659093 ACTB c.82delC p.R28fs*16 Deletion - Frameshift Large_intestine COSM1084069 PHF14 c.2027G>A p.R676Q Substitution - Missense Endometrium COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Prostate COSM3743640 SP100 c.279A>C p.Q93H Substitution - Missense Liver COSM3712315 KAT2A c.1292G>T p.G431V Substitution - Missense Upper_aerodigestive_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM267293 PYGO2 c.448_449insC p.Q150fs*27 Insertion - Frameshift Large_intestine COSM52958 DNMT3A c.? p.P718L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3758108 ATAD2B_ENST00000238789 c.202C>T p.L68L Substitution - coding silent Large_intestine COSM5094596 GTF3C4 c.1500C>T p.G500G Substitution - coding silent Large_intestine COSM3940123 ATRX c.1616A>G p.Q539R Substitution - Missense Oesophagus COSM3559664 MECP2 c.649C>T p.P217S Substitution - Missense Skin COSM3451009 MTA2 c.1603C>T p.P535S Substitution - Missense Skin COSM5751626 SETD2 c.80_81insG p.C27fs*6 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1317829 SMEK1 c.1598C>G p.S533W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4768885 PCNA c.613C>G p.L205V Substitution - Missense Biliary_tract COSM4159839 PRDM9 c.2042C>G p.T681S Substitution - Missense Upper_aerodigestive_tract COSM1717669 DNMT3A c.1154delC p.P385fs*22 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3724506 DNMT3A c.? p.C586Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384664 KDM5A c.43C>T p.P15S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4600739 PRDM7 c.122G>A p.R41K Substitution - Missense Upper_aerodigestive_tract COSM3901326 PRDM14 c.871A>G p.S291G Substitution - Missense Stomach COSM920005 SFMBT2 c.2065G>A p.A689T Substitution - Missense Endometrium COSM5349589 TAF3 c.1307C>T p.A436V Substitution - Missense Lung COSM4882033 ARID1A c.947A>T p.Y316F Substitution - Missense Upper_aerodigestive_tract COSM756635 SCML2 c.1647A>T p.L549L Substitution - coding silent Lung COSM4694980 KDM4D c.637T>C p.Y213H Substitution - Missense Large_intestine COSM4466766 BRD3 c.1451C>A p.P484Q Substitution - Missense Skin COSM1680759 BRD4 c.1352A>G p.E451G Substitution - Missense Large_intestine COSM4593742 AP001011.3_ENST00000320876 c.35C>G p.A12G Substitution - Missense Upper_aerodigestive_tract COSM4170411 KMT2D c.11327G>A p.G3776E Substitution - Missense Eye COSM3830674 TDRD6 c.1480G>C p.E494Q Substitution - Missense Breast COSM459600 ATF7IP c.572C>G p.S191C Substitution - Missense Cervix COSM896927 ASH1L c.4334A>C p.K1445T Substitution - Missense Endometrium COSM4591233 NCOR1 c.534G>C p.K178N Substitution - Missense Upper_aerodigestive_tract COSM1465521 SMARCA1 c.169_171delAAG p.K57delK Deletion - In frame Oesophagus COSM464494 ZMYM4 c.992C>A p.S331* Substitution - Nonsense Kidney COSM95317 TDG c.1060G>C p.E354Q Substitution - Missense Lung COSM5757617 BAP1 c.? p.R701fs*? Frameshift Kidney COSM1364809 PHC1 c.2469C>T p.C823C Substitution - coding silent Large_intestine COSM961413 RTF1 c.244G>T p.E82* Substitution - Nonsense Endometrium COSM2156731 MINA c.147C>A p.I49I Substitution - coding silent Central_nervous_system COSM5392253 EYA2 c.437G>T p.G146V Substitution - Missense Skin COSM2041403 KDM2A c.2578_2580delGAG p.E866delE Deletion - In frame Upper_aerodigestive_tract COSM3899933 ASH2L c.479G>A p.R160Q Substitution - Missense Stomach COSM4482865 RERE c.2649C>T p.A883A Substitution - coding silent Skin COSM5969874 SIRT1 c.1062G>C p.A354A Substitution - coding silent Upper_aerodigestive_tract COSM1027515 ZMYND8 c.2860G>A p.E954K Substitution - Missense Cervix COSM116157 SMARCB1 c.1051C>T p.P351S Substitution - Missense Ovary COSM1310294 PRDM8 c.915C>T p.I305I Substitution - coding silent Urinary_tract COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4162002 KMT2C c.2656C>T p.R886C Substitution - Missense Oesophagus COSM4164210 KMT2C c.8252C>T p.S2751L Substitution - Missense Ovary COSM3939376 NCOA5 c.1117C>A p.R373R Substitution - coding silent Oesophagus COSM311683 GTF3C4 c.1660C>G p.P554A Substitution - Missense Lung COSM1583084 DNMT3A c.1669T>C p.C557R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4971106 INOC1 c.3453C>A p.S1151S Substitution - coding silent Central_nervous_system COSM5019907 DNMT1 c.527C>T p.A176V Substitution - Missense Soft_tissue COSM5069460 MBD6 c.2098_2099insC p.Q702fs*15 Insertion - Frameshift Large_intestine COSM236538 PHC2 c.130C>A p.Q44K Substitution - Missense Autonomic_ganglia COSM2919954 CREBBP c.4690A>G p.K1564E Substitution - Missense Stomach COSM4417043 ZMYND8 c.1324C>T p.R442C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1416623 TCF20 c.2084G>A p.R695K Substitution - Missense Large_intestine COSM3849335 TDRD5 c.1583C>T p.P528L Substitution - Missense Pancreas COSM1066305 NSD1 c.6620C>A p.P2207H Substitution - Missense Endometrium COSM378435 PHF15 c.1024_1025GG>TT p.G342>? Complex Lung COSM3524755 AP001011.3_ENST00000320876 c.4517G>A p.R1506H Substitution - Missense Skin COSM1483162 SMEK2 c.1450G>A p.E484K Substitution - Missense Breast COSM563962 SETBP1 c.1592G>T p.R531M Substitution - Missense Prostate COSM302120 EHMT2 c.1971C>A p.S657S Substitution - coding silent Central_nervous_system COSM480400 PBRM1 c.1739A>G p.Y580C Substitution - Missense Kidney COSM757505 ATRX c.3945A>G p.E1315E Substitution - coding silent Lung COSM33233 HNF1A c.1721G>A p.S574N Substitution - Missense Ovary COSM1157868 EPC2 c.1496G>A p.R499Q Substitution - Missense Pancreas COSM1753996 KDM3B c.795A>T p.K265N Substitution - Missense Urinary_tract COSM4609625 JARID2 c.3564G>C p.Q1188H Substitution - Missense Adrenal_gland COSM3965299 HDAC6 c.3509A>C p.H1170P Substitution - Missense Lung COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1107 SMARCB1 c.1158+1delC p.? Unknown Central_nervous_system COSM1088642 STK31 c.1850T>C p.I617T Substitution - Missense Endometrium COSM41736 TET2 c.1526C>G p.S509* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4771190 TTF2 c.1700A>T p.K567M Substitution - Missense Pleura COSM272257 PHF3 c.2903_2904insT p.R971fs*6 Insertion - Frameshift Large_intestine COSM710131 SMARCA4 c.355+1G>T p.? Unknown Lung COSM4804043 EHMT1 c.2006G>T p.G669V Substitution - Missense Liver COSM5944132 TET2 c.3594G>A p.W1198* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM144217 ATRX c.3364_3364delT p.C1122fs*8 Deletion - Frameshift Central_nervous_system COSM426116 PRDM16 c.3487G>A p.A1163T Substitution - Missense Breast COSM1061353 KDM3B c.3848C>T p.A1283V Substitution - Missense Endometrium COSM30581 SMARCA4 c.3850G>A p.D1284N Substitution - Missense Large_intestine COSM3780735 TAF1L c.2888G>T p.G963V Substitution - Missense Pancreas COSM34192 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM1683746 ZMYM1 c.2855_2857delATA p.N952delN Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1970711 HELLS c.213G>A p.L71L Substitution - coding silent Large_intestine COSM4143739 ARID1A c.4693A>C p.T1565P Substitution - Missense Thyroid COSM4954248 ZMYND8 c.790A>G p.I264V Substitution - Missense Liver COSM3296119 MBD5 c.1164G>T p.Q388H Substitution - Missense Large_intestine COSM1000721 EZH2 c.862C>T p.R288* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4960591 RERE c.1012G>A p.A338T Substitution - Missense Liver COSM427633 ERCC6 c.2935A>G p.K979E Substitution - Missense Breast COSM5953905 ACTB c.1014C>A p.S338S Substitution - coding silent Upper_aerodigestive_tract COSM5174717 TDG c.553T>A p.Y185N Substitution - Missense Large_intestine COSM3353869 CDYL c.979C>T p.R327* Substitution - Nonsense Stomach COSM3618972 PRDM13 c.2018C>T p.P673L Substitution - Missense Skin COSM1609421 FTO c.148A>C p.I50L Substitution - Missense Liver COSM3728254 RAI1 c.403C>T p.P135S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM160425 DIDO1 c.5409G>T p.Q1803H Substitution - Missense Breast COSM309882 CBX4 c.366C>G p.L122L Substitution - coding silent Lung COSM1377534 SETD1A c.3141C>G p.S1047S Substitution - coding silent Large_intestine COSM4989769 RERE c.2381C>T p.P794L Substitution - Missense Large_intestine COSM3974651 TET2 c.2795A>G p.D932G Substitution - Missense Central_nervous_system COSM1617461 ZCWPW2 c.610G>A p.D204N Substitution - Missense Liver COSM3968098 EP400 c.1740G>A p.Q580Q Substitution - coding silent Central_nervous_system COSM2243429 RERE c.3592C>T p.R1198W Substitution - Missense Large_intestine COSM6013183 PRDM14 c.1458C>G p.D486E Substitution - Missense Skin COSM1027546 NCOA3 c.3786G>A p.Q1262Q Substitution - coding silent Skin COSM2931107 DIDO1 c.4711G>A p.G1571S Substitution - Missense Large_intestine COSM1157924 CLOCK c.763G>A p.V255I Substitution - Missense Pancreas COSM1312270 TDRD6 c.4882C>G p.P1628A Substitution - Missense Urinary_tract COSM1008145 BAZ2B c.5719C>T p.R1907C Substitution - Missense Endometrium COSM1682284 EP300 c.1393G>T p.E465* Substitution - Nonsense Large_intestine COSM117245 ARID1A c.2567G>T p.G856V Substitution - Missense Ovary COSM5752603 ATRX c.7108C>T p.Q2370* Substitution - Nonsense Breast COSM4333155 KMT2C c.11812G>A p.V3938I Substitution - Missense Biliary_tract COSM5990205 HNF1A c.1044_1045insTC p.H349fs*16 Insertion - Frameshift Liver COSM4677954 DMAP1 c.782G>A p.R261Q Substitution - Missense Large_intestine COSM1377475 SRCAP c.5626delC p.P1878fs*89 Deletion - Frameshift Large_intestine COSM4591901 NCOR1 c.618+6T>A p.? Unknown Upper_aerodigestive_tract COSM2773701 KIAA1045 c.422C>T p.A141V Substitution - Missense Large_intestine COSM3443955 KMT2A c.2987C>T p.S996F Substitution - Missense Skin COSM1611968 DOT1L c.3542C>T p.S1181F Substitution - Missense Liver COSM4777803 TRIM24 c.1213_1214insC p.Q405fs*5 Insertion - Frameshift Prostate COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3236996 BRD8 c.918A>G p.Q306Q Substitution - coding silent Skin COSM4536365 CHD9 c.2293G>A p.E765K Substitution - Missense Skin COSM5672893 PRDM9 c.2646C>T p.H882H Substitution - coding silent Soft_tissue COSM3987967 TP53BP1 c.1643C>T p.T548M Substitution - Missense Kidney COSM457082 HCFC1 c.2218G>T p.G740W Substitution - Missense Breast COSM1106565 WDR5 c.35C>G p.A12G Substitution - Missense Endometrium COSM1257770 KMT2A c.11719C>G p.H3907D Substitution - Missense Oesophagus COSM3712476 BAHCC1 c.3825C>T p.S1275S Substitution - coding silent Upper_aerodigestive_tract COSM5388050 ASXL3 c.2548G>A p.E850K Substitution - Missense Skin COSM1668048 LMNA c.892C>T p.R298C Substitution - Missense Large_intestine COSM3920770 SIRT5 c.752C>T p.S251F Substitution - Missense Skin COSM4092239 SP110 c.1530C>T p.N510N Substitution - coding silent Stomach COSM5950981 WHSC1 c.3786C>T p.A1262A Substitution - coding silent Prostate COSM4854770 ACTB c.714G>C p.K238N Substitution - Missense Cervix COSM5394611 BAZ2B c.1471A>C p.N491H Substitution - Missense Skin COSM383138 ARID4A c.2862T>C p.P954P Substitution - coding silent Lung COSM334035 CHD9 c.5308G>T p.G1770C Substitution - Missense Lung COSM3733336 KMT2C c.2263C>T p.Q755* Substitution - Nonsense Biliary_tract COSM4604300 KMT2D c.12824T>C p.V4275A Substitution - Missense Upper_aerodigestive_tract COSM908336 PRDM16 c.1069C>T p.R357C Substitution - Missense Endometrium COSM5768857 ARID1B c.3810G>A p.V1270V Substitution - coding silent Breast COSM3986897 KDM5A c.4274C>G p.P1425R Substitution - Missense Kidney COSM4466216 PRMT5 c.1421C>T p.P474L Substitution - Missense Skin COSM3867599 JMJD1C c.591C>T p.P197P Substitution - coding silent Skin COSM1756743 KMT2A c.5154G>T p.G1718G Substitution - coding silent Urinary_tract COSM1216847 NCOA1 c.409T>G p.S137A Substitution - Missense Large_intestine COSM5998226 UHRF2 c.1880G>A p.R627Q Substitution - Missense Prostate COSM5019620 KMT2C c.1179C>T p.N393N Substitution - coding silent Soft_tissue COSM4385437 ATRX c.431C>T p.P144L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4963552 PHF12 c.2684G>T p.R895L Substitution - Missense Pancreas COSM5804060 BRD1 c.2996A>T p.Q999L Substitution - Missense Liver COSM3458274 EP400 c.8829C>T p.A2943A Substitution - coding silent Skin COSM254572 BRPF1 c.3347G>A p.R1116Q Substitution - Missense Urinary_tract COSM1488018 ACTL6B c.1013G>T p.R338L Substitution - Missense Breast COSM894179 TRIM33 c.2605C>T p.H869Y Substitution - Missense Kidney COSM941559 SMARCC2 c.1392C>A p.A464A Substitution - coding silent Endometrium COSM347461 KDM3A c.2219C>A p.S740Y Substitution - Missense Lung COSM463025 GATAD2B c.1744C>T p.P582S Substitution - Missense Kidney COSM5555425 JMJD6 c.1157G>T p.G386V Substitution - Missense Prostate COSM53060 TET2 c.? p.N801fs*16 Frameshift Haematopoietic_and_lymphoid_tissue COSM95512 WHSC1 c.3050A>T p.N1017I Substitution - Missense Lung COSM4587146 TRIM24 c.1703A>G p.Q568R Substitution - Missense Bone COSM1130017 DNMT1 c.1747G>A p.D583N Substitution - Missense Prostate COSM4410598 PBRM1 c.1168_1169insT p.Y390fs*2 Insertion - Frameshift Kidney COSM359141 CBX2 c.522G>C p.K174N Substitution - Missense Lung COSM3132290 WHSC1 c.1081A>C p.K361Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4586805 TDRD6 c.4257C>T p.S1419S Substitution - coding silent Breast COSM5965092 ASH2L c.1012A>C p.K338Q Substitution - Missense Breast COSM3871124 EP400 c.6737C>T p.P2246L Substitution - Missense Skin COSM222118 HDAC9 c.2045G>A p.R682Q Substitution - Missense Endometrium COSM1582845 DNMT3A c.427C>T p.R143* Substitution - Nonsense Stomach COSM4597929 CXXC1 c.1039C>T p.R347W Substitution - Missense Upper_aerodigestive_tract COSM1250495 DNMT3A c.2025G>A p.V675V Substitution - coding silent Oesophagus COSM5829238 BRD1 c.1657-3delC p.? Unknown Large_intestine COSM99018 TAF1L c.377C>T p.T126M Substitution - Missense Stomach COSM225885 KMT2C c.1139G>T p.R380L Substitution - Missense Pancreas COSM87170 TET2 c.4317_4317delA p.K1439fs*9 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM276080 KMT2C c.10369G>A p.D3457N Substitution - Missense Large_intestine COSM1336710 TDRD5 c.1049A>T p.D350V Substitution - Missense Large_intestine COSM3445296 PRDM10 c.1605C>T p.F535F Substitution - coding silent Skin COSM255465 INTS12 c.1064C>T p.T355M Substitution - Missense Central_nervous_system COSM3899969 WHSC1L1 c.592A>G p.K198E Substitution - Missense Stomach COSM1118759 SCML2 c.1614G>T p.E538D Substitution - Missense Endometrium COSM1566064 BRWD1 c.6701G>A p.R2234H Substitution - Missense Large_intestine COSM4034377 PHRF1 c.935C>T p.A312V Substitution - Missense Stomach COSM4717477 PRDM15 c.4245C>T p.S1415S Substitution - coding silent Large_intestine COSM3396125 ASH1L c.8147A>T p.H2716L Substitution - Missense Prostate COSM4478569 DNMT3L c.224C>T p.P75L Substitution - Missense Skin COSM4541977 TAF1L c.3100G>A p.E1034K Substitution - Missense Skin COSM3547363 ZMYND8 c.524C>T p.S175F Substitution - Missense Skin COSM3528390 CARM1 c.227A>T p.D76V Substitution - Missense Skin COSM1286526 NCOA6 c.3551C>T p.P1184L Substitution - Missense Autonomic_ganglia COSM22650 MEN1 c.1702_1706delACCAA p.T568fs*27 Deletion - Frameshift Parathyroid COSM4770741 BAP1 c.2047delG p.A683fs*9 Deletion - Frameshift Pleura COSM1704822 PRDM10 c.2777C>T p.S926L Substitution - Missense Stomach COSM129625 TBL1XR1 c.691C>G p.L231V Substitution - Missense Upper_aerodigestive_tract COSM4791533 KDM4A c.759T>C p.Y253Y Substitution - coding silent Liver COSM265627 NCOA6 c.4343_4345delAAG p.E1448delE Deletion - In frame Large_intestine COSM1081869 PHIP c.1187G>A p.R396Q Substitution - Missense Endometrium COSM6018949 ZMYM6 c.94-5_94-4delTA p.? Unknown Skin COSM1427321 SMARCA5 c.1678C>T p.R560C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5436639 IDH2 c.583G>A p.V195I Substitution - Missense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM53311 IDH2 c.? p.R140W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM86942 IKZF1 c.1-?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1200956 CHD2 c.3667A>T p.I1223F Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM187703 MGA c.7450C>T p.R2484W Substitution - Missense Large_intestine COSM2909190 ATAD2B_ENST00000238789 c.2715_2716insG p.F906fs*73 Insertion - Frameshift Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM3580223 NCOA1 c.2187C>T p.S729S Substitution - coding silent Skin COSM3749492 DOT1L c.4156G>A p.G1386S Substitution - Missense Large_intestine COSM4404664 BRWD1 c.2086A>C p.S696R Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM228110 KMT2C c.1042G>A p.D348N Substitution - Missense Large_intestine COSM3095566 ZMYM3 c.4071T>A p.I1357I Substitution - coding silent Large_intestine COSM5752123 DNMT3A c.1590_1591insA p.D531fs*15 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1095752 ATAD2 c.2540G>A p.R847H Substitution - Missense Endometrium COSM5960516 KMT2D c.1806A>G p.P602P Substitution - coding silent Thyroid COSM30363 KMT2D c.15765C>A p.C5255* Substitution - Nonsense Kidney COSM4659092 ACTB c.440G>A p.R147H Substitution - Missense Large_intestine COSM3160331 PHF3 c.5264G>A p.R1755Q Substitution - Missense Large_intestine COSM5040427 RBBP5 c.219-2A>T p.? Unknown Liver COSM33732 IDH2 c.515G>T p.R172M Substitution - Missense Central_nervous_system COSM5349513 ARID1A c.?_?ins? p.I1635fs*? Insertion - Frameshift Endometrium COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM4582088 PRDM15 c.3149A>G p.N1050S Substitution - Missense Bone COSM41741 TET2 c.5618T>C p.I1873T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM255151 MEN1 c.1-20_51del71 p.? Unknown Parathyroid COSM46456 TET2 c.1669C>T p.Q557* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3484906 ACTA1 c.1037C>T p.S346F Substitution - Missense Skin COSM5820923 KDM4B c.2978A>T p.Y993F Substitution - Missense Liver COSM4129636 RAI1 c.4640A>C p.N1547T Substitution - Missense Thyroid COSM4917417 TRIM66 c.3047G>A p.S1016N Substitution - Missense Liver COSM3365344 SETD2 c.5320C>T p.Q1774* Substitution - Nonsense Kidney COSM5731033 SETD2 c.1947_1950delAATA p.D651fs*22 Deletion - Frameshift Breast COSM1241911 ZBTB38 c.2745G>A p.P915P Substitution - coding silent Oesophagus COSM5407186 HDAC9 c.2563C>T p.P855S Substitution - Missense Skin COSM392773 ATF2 c.1119delG p.V375fs*6 Deletion - Frameshift Lung COSM5952247 GABRG1 c.1179T>C p.N393N Substitution - coding silent Oesophagus COSM4569371 SCML2 c.170T>C p.I57T Substitution - Missense Skin COSM6008929 KMT2A c.11546T>A p.I3849N Substitution - Missense Large_intestine COSM1742840 BAP1 c.37+1G>A p.? Unknown Biliary_tract COSM5994492 SETD5_ENST00000402198 c.447G>A p.L149L Substitution - coding silent Prostate COSM132968 ASXL1 c.? p.E635fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM5879960 SMC1A c.3339C>A p.Y1113* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM422739 BAP1 c.438-1G>A p.? Unknown Kidney COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM40368 NCOA5 c.291G>A p.R97R Substitution - coding silent Central_nervous_system COSM85911 IKZF1 c.161-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51441 ARID1A c.5161C>T p.R1721* Substitution - Nonsense Endometrium COSM88755 CREBBP c.223C>T p.R75* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM96444 CREBBP c.5660C>G p.S1887* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM96373 BAP1 c.170_170delG p.S58fs*14 Deletion - Frameshift Pleura COSM124458 KMT2C c.121C>T p.R41C Substitution - Missense Upper_aerodigestive_tract COSM129885 TIF1 c.808A>G p.I270V Substitution - Missense Upper_aerodigestive_tract COSM149376 SETD2 c.4376C>T p.P1459L Substitution - Missense Prostate COSM220670 KMT2D c.14749G>C p.A4917P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM225883 KMT2C c.2968A>G p.S990G Substitution - Missense Soft_tissue COSM227525 KMT2C c.2294A>G p.E765G Substitution - Missense Stomach COSM267853 GABRG1 c.755C>T p.T252M Substitution - Missense Large_intestine COSM255261 KMT2C c.10213C>T p.R3405* Substitution - Nonsense Central_nervous_system COSM266452 EHMT1 c.3439G>A p.D1147N Substitution - Missense Large_intestine COSM258061 SMARCD3 c.465G>A p.A155A Substitution - coding silent Large_intestine COSM284218 PRDM15 c.4005C>T p.G1335G Substitution - coding silent Large_intestine COSM276083 MLL5 c.2621G>A p.R874Q Substitution - Missense Large_intestine COSM279203 BRDT c.1852C>T p.R618C Substitution - Missense Large_intestine COSM306815 ARID2 c.4573_4576GAAA>GAA p.E1525fs Complex Central_nervous_system COSM330358 SETBP1 c.69C>T p.S23S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM363299 SMARCA4 c.1917_1918GG>CT p.L639>? Complex Lung COSM397313 BRD9 c.1345C>T p.R449W Substitution - Missense Lung COSM422561 KDM6A c.4009G>T p.E1337* Substitution - Nonsense Urinary_tract COSM421492 STK31 c.1767G>T p.L589L Substitution - coding silent Urinary_tract COSM405060 DOT1L c.3146_3147insCA p.T1051fs*18 Insertion - Frameshift Lung COSM430522 HNF1A c.79A>C p.I27L Substitution - Missense Soft_tissue COSM430757 EP400 c.6660C>T p.D2220D Substitution - coding silent Stomach COSM461017 MSH6 c.1863G>C p.L621L Substitution - coding silent Cervix COSM985857 BAHCC1 c.6338G>T p.S2113I Substitution - Missense Endometrium COSM681259 KDM4A c.1672G>C p.E558Q Substitution - Missense Lung COSM1051392 SETD7 c.746G>A p.R249Q Substitution - Missense Endometrium COSM1048969 SETD5_ENST00000402198 c.278G>A p.C93Y Substitution - Missense Endometrium COSM1017593 SP140_ENST00000392045 c.408A>G p.V136V Substitution - coding silent Endometrium COSM1027527 ZMYND8 c.1660G>A p.E554K Substitution - Missense Endometrium COSM1028991 DIDO1 c.1802C>T p.S601F Substitution - Missense Endometrium COSM756634 SCML2 c.883C>G p.P295A Substitution - Missense Lung COSM755296 PHF6 c.187G>T p.G63C Substitution - Missense Lung COSM926917 ALKBH3 c.459C>T p.H153H Substitution - coding silent Endometrium COSM999505 KDM4B c.210G>A p.A70A Substitution - coding silent Endometrium COSM1045652 SMARCC1 c.2530A>G p.T844A Substitution - Missense Endometrium COSM1127359 ASH1L c.2916G>T p.K972N Substitution - Missense Prostate COSM1133054 ARID1A c.5216_5216delC p.P1739fs*31 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1166773 PRDM2 c.849_850delTG p.D283fs*2 Deletion - Frameshift Large_intestine COSM1238245 ASXL1 c.589G>A p.G197S Substitution - Missense Oesophagus COSM1266212 SMARCA2 c.3433G>C p.D1145H Substitution - Missense Stomach COSM1180098 KMT2C c.1005T>A p.P335P Substitution - coding silent Soft_tissue COSM1169583 PBRM1 c.766G>C p.A256P Substitution - Missense Kidney COSM1187531 MYST3 c.3121A>T p.T1041S Substitution - Missense Lung COSM1312341 PHF3 c.3473C>T p.A1158V Substitution - Missense Urinary_tract COSM1296221 ARID1A c.1765C>T p.Q589* Substitution - Nonsense Urinary_tract COSM1327711 TBL1XR1 c.606_624del19 p.T203fs*1 Deletion - Frameshift Ovary COSM1388275 AP001011.3_ENST00000320876 c.2035delA p.K680fs*3 Deletion - Frameshift Large_intestine COSM1387282 BAHCC1 c.2349C>T p.F783F Substitution - coding silent Large_intestine COSM1342112 ZMYM1 c.1510delA p.T506fs*15 Deletion - Frameshift Pancreas COSM1363135 BAZ2A c.3227G>A p.R1076Q Substitution - Missense Large_intestine COSM1358312 TDG c.245_246insA p.S85fs*19 Insertion - Frameshift Large_intestine COSM1553268 EYA1 c.75C>T p.L25L Substitution - coding silent Skin COSM1490671 HCFC1 c.917C>A p.T306K Substitution - Missense Breast COSM1476834 CHD4 c.2965A>T p.I989F Substitution - Missense Breast COSM1586697 CHD4 c.4013G>T p.R1338I Substitution - Missense Endometrium COSM1583102 DNMT3A c.2114T>C p.I705T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1635517 TRRAP c.7153A>G p.I2385V Substitution - Missense Liver COSM1671594 NIPBL c.8108A>G p.E2703G Substitution - Missense Large_intestine COSM1688026 BRDT c.544C>T p.P182S Substitution - Missense Skin COSM1694079 WHSC1 c.2329C>T p.P777S Substitution - Missense Skin COSM1725902 PRMT6 c.563T>A p.L188Q Substitution - Missense Liver COSM1734595 ARID2 c.1259A>T p.E420V Substitution - Missense Pancreas COSM2019080 RSF1 c.768G>T p.E256D Substitution - Missense Large_intestine COSM2064418 TDG c.591G>A p.T197T Substitution - coding silent Stomach COSM2195928 BAZ1A c.102C>T p.F34F Substitution - coding silent Large_intestine COSM2192906 ORC1 c.448A>C p.N150H Substitution - Missense Large_intestine COSM2235520 ARID1A c.4541delC p.T1514fs*13 Deletion - Frameshift Breast COSM2889537 DNMT3B c.998T>C p.L333S Substitution - Missense Large_intestine COSM3296285 EPC2 c.1384A>G p.M462V Substitution - Missense Large_intestine COSM3392884 GABRG1 c.517G>C p.D173H Substitution - Missense Pancreas COSM3479283 TDRD5 c.878G>A p.G293E Substitution - Missense Skin COSM3505529 CHD2 c.1866G>A p.L622L Substitution - coding silent Skin COSM3493332 BRDT c.1476G>A p.R492R Substitution - coding silent Skin COSM3500896 BAHD1 c.248C>T p.P83L Substitution - Missense Skin COSM3434292 TDRD1 c.1164A>G p.E388E Substitution - coding silent Skin COSM3417482 RNF17 c.1276G>T p.D426Y Substitution - Missense Large_intestine COSM3578957 SP100 c.596C>T p.P199L Substitution - Missense Skin COSM3570005 HAT1 c.902C>T p.S301F Substitution - Missense Skin COSM3528393 CARM1 c.609C>T p.A203A Substitution - coding silent Skin COSM3525434 ASXL3 c.1514C>A p.T505N Substitution - Missense Skin COSM3664613 TBL1XR1 c.100A>G p.I34V Substitution - Missense Breast COSM3712783 SMARCA4 c.4005G>A p.P1335P Substitution - coding silent Upper_aerodigestive_tract COSM3749090 PWWP2B c.1041C>T p.P347P Substitution - coding silent Large_intestine COSM3762594 STK31 c.213G>C p.Q71H Substitution - Missense Large_intestine COSM3805348 KDM4A c.1386C>G p.V462V Substitution - coding silent Breast COSM3853956 NSD1 c.3579T>C p.S1193S Substitution - coding silent Stomach COSM3925326 MYST3 c.2056C>G p.L686V Substitution - Missense Skin COSM3920563 PRDM1 c.1860G>A p.E620E Substitution - coding silent Skin COSM3947484 NIPBL c.2671G>C p.D891H Substitution - Missense Lung COSM3958191 SUZ12 c.824-1G>T p.? Unknown Lung COSM3972165 NCOA1 c.3110G>A p.G1037D Substitution - Missense Central_nervous_system COSM4054830 TP53BP1 c.5528A>G p.Y1843C Substitution - Missense Stomach COSM3987216 APOBEC1 c.2T>C p.M1T Substitution - Missense Kidney COSM4122506 SMARCA5 c.2743A>G p.I915V Substitution - Missense Stomach COSM4059640 GTF3C1 c.5474C>T p.A1825V Substitution - Missense Stomach COSM4058013 CHD2 c.191C>T p.S64L Substitution - Missense Stomach COSM4130524 BPTF c.5832T>A p.S1944S Substitution - coding silent Thyroid COSM4145728 PHF21A c.975C>A p.S325R Substitution - Missense Upper_aerodigestive_tract COSM4142808 LMNA c.232A>G p.K78E Substitution - Missense Thyroid COSM4149673 TBL1XR1 c.1345G>C p.A449P Substitution - Missense Ovary COSM4162004 KMT2C c.2646C>A p.I882I Substitution - coding silent Thyroid COSM4441497 TET2 c.1318C>G p.Q440E Substitution - Missense Large_intestine COSM4577604 RERE c.3593_3594insAGAGCG p.E1201_A1202insRE Insertion - In frame Bone COSM4438275 CHD9 c.5267G>T p.G1756V Substitution - Missense Oesophagus COSM4460393 HDAC4 c.1164C>T p.F388F Substitution - coding silent Skin COSM4464322 SRCAP c.1328C>T p.S443F Substitution - Missense Skin COSM4475291 SMARCC1 c.1978C>T p.H660Y Substitution - Missense Skin COSM4411541 KDM5A c.4807T>G p.S1603A Substitution - Missense Oesophagus COSM4410707 PBRM1 c.435delT p.R146fs*28 Deletion - Frameshift Kidney COSM4703005 MPHOSPH8 c.1369_1370insA p.N459fs*2 Insertion - Frameshift Large_intestine COSM4671945 CHD1 c.4830C>T p.H1610H Substitution - coding silent Large_intestine COSM4767623 KMT2D c.3858C>G p.Y1286* Substitution - Nonsense Biliary_tract COSM4614322 SUV420H2 c.117_118insC p.L42fs*92 Insertion - Frameshift Large_intestine COSM4777281 PRDM8 c.1183G>A p.A395T Substitution - Missense Breast COSM4642438 CHD6 c.5877A>G p.K1959K Substitution - coding silent Large_intestine COSM4775148 WHSC1 c.2490C>T p.N830N Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4778219 MPHOSPH8 c.1202C>T p.T401M Substitution - Missense Prostate COSM4777522 EP300 c.4198A>G p.S1400G Substitution - Missense Breast COSM4929785 HDAC10 c.291G>T p.P97P Substitution - coding silent Liver COSM4845390 SMARCA4 c.1338C>T p.S446S Substitution - coding silent Cervix COSM4952287 NCOA6 c.2915-1G>A p.? Unknown Liver COSM4987392 KDM6B c.2257A>G p.T753A Substitution - Missense Soft_tissue COSM5019221 TRIM33 c.1303-10delT p.? Unknown Soft_tissue COSM5392041 ACTR5 c.1476C>T p.F492F Substitution - coding silent Skin COSM5369873 HNF1A c.928C>T p.P310S Substitution - Missense Lung COSM5470084 ARID1A c.3869C>T p.T1290M Substitution - Missense Large_intestine COSM5462380 BAZ1A c.4283G>A p.R1428Q Substitution - Missense Large_intestine COSM5443636 CHD4 c.1141G>C p.E381Q Substitution - Missense Oesophagus COSM5422708 INO80C c.376_379delAACT p.N126fs*58 Deletion - Frameshift Prostate COSM5702616 SET c.775_776insA p.D260fs*2 Insertion - Frameshift Ovary COSM5623393 KIAA2026_ENST00000399933 c.163G>A p.D55N Substitution - Missense Oesophagus COSM5759628 DNMT3A c.2272G>A p.V758M Substitution - Missense Bone COSM5754190 SETDB1 c.1871A>G p.H624R Substitution - Missense Large_intestine COSM5722283 BAHD1 c.294G>A p.K98K Substitution - coding silent Skin COSM5609400 KMT2A c.10833C>A p.V3611V Substitution - coding silent Skin COSM5731230 ARID1A c.3771T>G p.G1257G Substitution - coding silent Central_nervous_system COSM5600632 TCF20 c.4975A>T p.K1659* Substitution - Nonsense Skin COSM5578231 CBX4 c.700A>T p.M234L Substitution - Missense Skin COSM5572847 CHD3 c.2216A>G p.Y739C Substitution - Missense Prostate COSM5773234 PHF14 c.1205+8T>A p.? Unknown Breast COSM5944966 DNMT3A c.1532G>A p.G511E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5940835 CARM1 c.559-7C>T p.? Unknown Skin COSM5913444 PRDM4 c.506C>T p.S169F Substitution - Missense Skin COSM5908713 ACTB c.1024G>A p.G342S Substitution - Missense Skin COSM5990312 TRIM66 c.3105A>G p.G1035G Substitution - coding silent Liver COSM5998656 TAF1L c.1832C>A p.S611* Substitution - Nonsense Prostate COSM6002798 KDM6B c.4130A>G p.Q1377R Substitution - Missense Prostate COSM5347199 ARID1A c.?_?ins? p.A1517fs*? Insertion - Frameshift Endometrium COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM5880301 ATRX c.? p.R2197L Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4169536 TET2 c.? p.N1260S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41995 TET2 c.2570_2570delA p.N857fs*16 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4545889 PRDM13 c.388G>A p.D130N Substitution - Missense Skin COSM5557366 PHIP c.1698T>C p.I566I Substitution - coding silent Prostate COSM921431 BTAF1 c.2616G>T p.E872D Substitution - Missense Endometrium COSM86082 KMT2C c.2418C>G p.S806S Substitution - coding silent Skin COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM1109455 KIAA2026_ENST00000399933 c.3229G>T p.D1077Y Substitution - Missense Endometrium COSM3570153 ATF2 c.1088G>A p.R363K Substitution - Missense Skin COSM3113032 SRCAP c.8364G>A p.P2788P Substitution - coding silent Large_intestine COSM4714009 PHF3 c.1580G>T p.S527I Substitution - Missense Large_intestine COSM1703071 TDRD1 c.1969G>A p.E657K Substitution - Missense Pituitary COSM4385379 KDM6A c.1937G>A p.G646D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM703250 SRCAP c.8372C>T p.P2791L Substitution - Missense Lung COSM2080100 ZMYM1 c.699G>T p.E233D Substitution - Missense Large_intestine COSM3598239 BRPF1 c.972C>T p.P324P Substitution - coding silent Skin COSM3982580 NCOA2 c.3846G>C p.M1282I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4071903 ASXL3 c.1544C>T p.P515L Substitution - Missense Stomach COSM1496901 MYST3 c.2219G>T p.R740L Substitution - Missense Kidney COSM1449392 KMT2C c.11143delA p.T3715fs*4 Deletion - Frameshift Large_intestine COSM3731567 MINA c.1338G>C p.E446D Substitution - Missense Stomach COSM5012860 RTF1 c.1274A>T p.D425V Substitution - Missense Kidney COSM1568782 TRRAP c.5732C>T p.P1911L Substitution - Missense Large_intestine COSM3891500 SMARCA4 c.4208A>G p.E1403G Substitution - Missense Skin COSM2805055 BAHCC1 c.7799C>T p.T2600M Substitution - Missense Large_intestine COSM316705 ZMYND8 c.77G>C p.R26P Substitution - Missense Soft_tissue COSM1673710 KMT2C c.5854T>G p.L1952V Substitution - Missense Large_intestine COSM1192038 ATRX c.1916delT p.L639fs*10 Deletion - Frameshift Central_nervous_system COSM254548 ARID1A c.1850C>G p.S617* Substitution - Nonsense Urinary_tract COSM1083675 MLL5 c.1846T>C p.C616R Substitution - Missense Endometrium COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1732205 SETD2 c.5177T>G p.V1726G Substitution - Missense Kidney COSM4409786 CHD8 c.4864A>G p.T1622A Substitution - Missense Oesophagus COSM4808194 ARID1B c.870A>C p.A290A Substitution - coding silent Pancreas COSM249506 BAP1 c.2041_2042insT p.M681fs*36 Insertion - Frameshift Kidney COSM3697514 EYA4 c.199G>A p.G67R Substitution - Missense Large_intestine COSM1315893 TRIM33 c.1676C>A p.P559H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM211729 TET2 c.4064C>T p.A1355V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4949780 BAZ2A_ENST00000379441 c.5053G>T p.G1685C Substitution - Missense Liver COSM1080976 PHF3 c.6049G>T p.E2017* Substitution - Nonsense Endometrium COSM4411206 SCMH1 c.1058C>T p.A353V Substitution - Missense Kidney COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM678670 SMYD2 c.656G>T p.G219V Substitution - Missense Lung COSM3471575 TRIM33 c.2098C>T p.L700L Substitution - coding silent Skin COSM1583095 DNMT3A c.2056G>T p.D686Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3364654 ATAD2B_ENST00000238789 c.619C>T p.Q207* Substitution - Nonsense Kidney COSM4778420 SMYD3 c.399A>C p.E133D Substitution - Missense Liver COSM4693837 JMJD1C c.4209T>C p.Y1403Y Substitution - coding silent Large_intestine COSM3508971 SETD1A c.946G>T p.A316S Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4760418 TDRD1 c.3251T>G p.V1084G Substitution - Missense Stomach COSM5988213 EP300 c.1865C>T p.S622F Substitution - Missense Salivary_gland COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Skin COSM3674678 DAXX c.1819A>G p.M607V Substitution - Missense Prostate COSM1476373 ATF7IP c.2767G>A p.E923K Substitution - Missense Breast COSM4547900 TRIM24 c.433G>T p.V145L Substitution - Missense Skin COSM3363187 ASXL1 c.3966G>T p.P1322P Substitution - coding silent Kidney COSM1737944 TET2 c.2604_2604delT p.P869fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1386948 CBX8 c.956_957insG p.L320fs*38 Insertion - Frameshift Large_intestine COSM3840817 NCOA6 c.5194T>A p.L1732M Substitution - Missense Breast COSM41292 IDH1 c.? p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM246767 PRDM9 c.338G>A p.R113H Substitution - Missense Prostate COSM1737944 TET2 c.2604_2604delT p.P869fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4750903 ZMYM2 c.691G>A p.G231R Substitution - Missense Stomach COSM471790 BRD7 c.1340A>G p.E447G Substitution - Missense Kidney COSM4046665 RNF17 c.965A>G p.Q322R Substitution - Missense Stomach COSM570593 BAZ2B c.3086G>T p.R1029L Substitution - Missense Urinary_tract COSM5479946 CBX2 c.569G>A p.R190Q Substitution - Missense Large_intestine COSM937496 ATF7IP c.1468G>T p.E490* Substitution - Nonsense Endometrium COSM488716 KDM5D c.376G>A p.E126K Substitution - Missense Kidney COSM1754976 ACTL6B c.195C>T p.F65F Substitution - coding silent Urinary_tract COSM5716562 MEN1 c.897C>T p.L299L Substitution - coding silent Skin COSM1706559 RNF17 c.1804G>A p.V602I Substitution - Missense Skin COSM5928154 PRDM16 c.2320G>A p.D774N Substitution - Missense Skin COSM431203 KMT2D c.10026G>A p.Q3342Q Substitution - coding silent Soft_tissue COSM1100770 CHD7 c.292C>A p.L98I Substitution - Missense Endometrium COSM1128489 CHD4 c.3778C>T p.R1260C Substitution - Missense Large_intestine COSM133035 ASXL1 c.2668C>T p.L890F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3479344 TDRD5 c.2718C>T p.I906I Substitution - coding silent Skin COSM1080072 CDYL c.1500C>T p.N500N Substitution - coding silent Endometrium COSM1659060 CHD2 c.4919G>A p.W1640* Substitution - Nonsense Salivary_gland COSM4804719 CBX4 c.1392G>T p.L464L Substitution - coding silent Liver COSM5688536 GABRG1 c.915G>T p.L305F Substitution - Missense Soft_tissue COSM5137235 ATF2 c.1231C>T p.L411F Substitution - Missense Large_intestine COSM4979525 ZCWPW1 c.519G>A p.W173* Substitution - Nonsense Oesophagus COSM4525381 PHF21B c.1327G>A p.E443K Substitution - Missense Skin COSM3370460 CHD9 c.6729G>T p.E2243D Substitution - Missense Thyroid COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1581246 KMT2C c.6965T>C p.V2322A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4603746 PBRM1 c.1658delA p.K553fs*16 Deletion - Frameshift Upper_aerodigestive_tract COSM5059769 DHX30 c.468G>A p.P156P Substitution - coding silent Stomach COSM3817826 SRCAP c.6235C>A p.L2079I Substitution - Missense Breast COSM5960157 BPTF c.5716delA p.E1907fs*21 Deletion - Frameshift Thyroid COSM4619281 ARID1B c.1629C>A p.Y543* Substitution - Nonsense Large_intestine COSM139835 JMJD1C c.2000C>A p.P667Q Substitution - Missense Skin COSM53143 TET2 c.? p.V1862fs*24 Frameshift Haematopoietic_and_lymphoid_tissue COSM3490660 ORC1 c.1596C>T p.I532I Substitution - coding silent Skin COSM2768700 SND1 c.748delT p.F251fs*39 Deletion - Frameshift Breast COSM357215 PRDM4 c.535C>T p.H179Y Substitution - Missense Lung COSM5574491 CHD6 c.6128A>G p.D2043G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3687863 EP400 c.3872G>A p.R1291H Substitution - Missense Large_intestine COSM5640865 RTF1 c.94G>C p.D32H Substitution - Missense Oesophagus COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4903627 ARID1A c.1147C>T p.P383S Substitution - Missense Skin COSM1624814 PSIP1 c.161G>A p.G54E Substitution - Missense Liver COSM5455523 PHIP c.3237C>A p.A1079A Substitution - coding silent Large_intestine COSM5810186 JMJD1C c.6450T>A p.P2150P Substitution - coding silent Liver COSM5944472 PHF6 c.347_348delGA p.K118fs*19 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5920404 EP400 c.5398C>T p.P1800S Substitution - Missense Skin COSM3755970 KDM6B c.4044G>A p.L1348L Substitution - coding silent Large_intestine COSM1030935 PRDM15 c.3690C>T p.C1230C Substitution - coding silent Endometrium COSM488457 KDM5C c.2437C>T p.Q813* Substitution - Nonsense Large_intestine COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5002616 HDAC6 c.1277G>A p.C426Y Substitution - Missense Pancreas COSM5432001 HDAC5 c.439_456del18 p.R147_Q152delREQQRQ Deletion - In frame Oesophagus COSM5781880 KMT2D c.15505C>G p.R5169G Substitution - Missense Breast COSM751057 CHD7 c.4104A>T p.A1368A Substitution - coding silent Lung COSM926920 ALKBH3 c.750G>A p.A250A Substitution - coding silent Endometrium COSM318772 ARID2 c.220G>T p.E74* Substitution - Nonsense Lung COSM94149 DUSP1 c.488C>T p.S163F Substitution - Missense Urinary_tract COSM3555663 HDAC10 c.1362G>A p.E454E Substitution - coding silent Skin COSM4807122 TIF1 c.374T>C p.I125T Substitution - Missense Pancreas COSM686090 BTAF1 c.2695C>T p.Q899* Substitution - Nonsense Lung COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM319433 CHD3 c.4015A>C p.K1339Q Substitution - Missense Lung COSM3815633 SETD3 c.1710C>G p.L570L Substitution - coding silent Breast COSM87740 BRD1 c.478G>A p.E160K Substitution - Missense Endometrium COSM1620696 CHD1 c.3874G>C p.D1292H Substitution - Missense Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM168759 TRIM24 c.2161C>T p.R721* Substitution - Nonsense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1103 SMARCB1 c.?_?del? p.?del Deletion - In frame Soft_tissue COSM939505 ARID2 c.2740C>T p.P914S Substitution - Missense Endometrium COSM381795 TRDMT1 c.660A>G p.I220M Substitution - Missense Lung COSM5566660 PBRM1 c.2128C>G p.R710G Substitution - Missense Prostate COSM41736 TET2 c.1526C>G p.S509* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1611288 MBD2 c.1062A>G p.T354T Substitution - coding silent Liver COSM4140202 DNMT1 c.2601G>C p.L867L Substitution - coding silent Ovary COSM5168023 ACTR8 c.775delT p.S259fs*18 Deletion - Frameshift Large_intestine COSM234195 ZMYM4 c.2767-1G>A p.? Unknown Skin COSM4013118 TRDMT1 c.149C>A p.T50K Substitution - Missense Stomach COSM5771052 BAG6 c.2405C>G p.T802S Substitution - Missense Breast COSM3774744 FXR1 c.894A>G p.G298G Substitution - coding silent Urinary_tract COSM3842761 EP300 c.4161A>C p.P1387P Substitution - coding silent Breast COSM3363440 BRWD1 c.1081A>C p.I361L Substitution - Missense Kidney COSM5028932 PHF8 c.2407G>A p.D803N Substitution - Missense Breast COSM5883635 BRWD1 c.5753C>A p.S1918* Substitution - Nonsense Pancreas COSM3982168 TDRD6 c.4276C>T p.P1426S Substitution - Missense Oesophagus COSM1692814 BAP1 c.1547C>T p.P516L Substitution - Missense Oesophagus COSM1660384 ACTR8 c.1410G>T p.E470D Substitution - Missense Kidney COSM4747540 PHIP c.1504delA p.I502fs*7 Deletion - Frameshift Stomach COSM5694860 KMT2C c.28G>A p.E10K Substitution - Missense Soft_tissue COSM147497 KMT2D c.2015-8C>T p.? Unknown Soft_tissue COSM3548817 DIDO1 c.558T>C p.S186S Substitution - coding silent Skin COSM217240 EP300 c.1169T>G p.V390G Substitution - Missense Liver COSM5996480 BAG6 c.305C>T p.T102M Substitution - Missense Prostate COSM1646579 ZMYM2 c.361G>T p.D121Y Substitution - Missense Lung COSM1713783 DIDO1 c.3488C>T p.P1163L Substitution - Missense Skin COSM1324487 SETD1A c.4245C>G p.Y1415* Substitution - Nonsense Ovary COSM1429840 GABRG1 c.701G>T p.R234I Substitution - Missense Large_intestine COSM1204293 DNMT1 c.2105A>T p.D702V Substitution - Missense Large_intestine COSM5941212 MECOM c.595C>T p.Q199* Substitution - Nonsense Skin COSM3596997 ATXN7 c.1941C>T p.S647S Substitution - coding silent Skin COSM254551 ARID1A c.1897C>T p.Q633* Substitution - Nonsense Endometrium COSM1087674 KMT2C c.167G>A p.R56Q Substitution - Missense Endometrium COSM3921097 PHF10 c.752C>T p.S251F Substitution - Missense Skin COSM936090 SETD1B c.978C>T p.A326A Substitution - coding silent Endometrium COSM1639823 ARID1A c.6303delC p.S2104fs*31 Deletion - Frameshift Stomach COSM5054266 BAHD1 c.1134C>T p.S378S Substitution - coding silent Stomach COSM1061329 KDM3B c.1804delA p.T602fs*9 Deletion - Frameshift Endometrium COSM3547199 NCOA5 c.963C>T p.I321I Substitution - coding silent Skin COSM2720167 CHD7 c.8610G>A p.A2870A Substitution - coding silent Large_intestine COSM5945106 EZH2 c.2025C>G p.N675K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1717192 BAHD1 c.1958G>T p.W653L Substitution - Missense Ovary COSM3712655 ASXL3 c.1244C>G p.S415C Substitution - Missense Upper_aerodigestive_tract COSM336312 TAF1L c.1305G>T p.W435C Substitution - Missense Lung COSM1425060 ATXN7 c.2343C>T p.T781T Substitution - coding silent Skin COSM703023 CREBBP c.1464C>A p.L488L Substitution - coding silent Lung COSM5076838 GABRG1 c.792_793insT p.D265fs*1 Insertion - Frameshift Large_intestine COSM5782740 KMT2D c.13387G>A p.E4463K Substitution - Missense Breast COSM895827 POGZ c.1766C>A p.P589H Substitution - Missense Endometrium COSM918655 ERCC6 c.3400G>A p.G1134R Substitution - Missense Endometrium COSM377742 NCOA2 c.4042C>T p.Q1348* Substitution - Nonsense Cervix COSM999375 PRMT1 c.594C>T p.F198F Substitution - coding silent Endometrium COSM478088 PHF20 c.2060A>T p.N687I Substitution - Missense Kidney COSM1026315 PHF20 c.2644C>T p.R882C Substitution - Missense Stomach COSM4465870 SMARCA5 c.1403C>T p.P468L Substitution - Missense Skin COSM3650690 NCOA2 c.67C>T p.P23S Substitution - Missense Skin COSM4097806 NCOA6 c.3247C>T p.Q1083* Substitution - Nonsense Stomach COSM1605808 EP400 c.2863G>A p.E955K Substitution - Missense Liver COSM3751837 ERCC6 c.3289A>G p.M1097V Substitution - Missense Soft_tissue COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3835343 UHRF1 c.2178C>A p.F726L Substitution - Missense Breast COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5731006 KMT2D c.7193_7197delGCATG p.G2398fs*4 Deletion - Frameshift Breast COSM1038081 MBD4 c.797C>A p.S266Y Substitution - Missense Endometrium COSM723123 ASXL1 c.2208A>T p.T736T Substitution - coding silent Lung COSM5442068 HCFC2 c.1084C>T p.Q362* Substitution - Nonsense Oesophagus COSM3642820 TRRAP c.8321C>T p.S2774F Substitution - Missense Skin COSM3968479 AICDA c.295C>T p.R99* Substitution - Nonsense Central_nervous_system COSM4789783 PHF8 c.2703G>A p.K901K Substitution - coding silent Liver COSM1067701 NIPBL c.5710-1G>T p.? Unknown Endometrium COSM3735040 TET2 c.285_285delA p.K95fs*18 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1209350 HCFC2 c.497T>C p.L166S Substitution - Missense Large_intestine COSM22593 MEN1 c.483_484GG>TT p.V162F Substitution - Missense Parathyroid COSM4031024 ARID1A c.6074A>C p.K2025T Substitution - Missense Stomach COSM4428395 MEN1 c.139T>A p.F47I Substitution - Missense Oesophagus COSM3704900 PRDM2 c.1681A>T p.N561Y Substitution - Missense Liver COSM1560993 PCGF6 c.83_84insGCCTCC p.P28_V29insPP Insertion - In frame Large_intestine COSM86486 BAZ2A_ENST00000379441 c.684A>G p.A228A Substitution - coding silent Ovary COSM4591023 KMT2C c.871C>T p.L291F Substitution - Missense Upper_aerodigestive_tract COSM1087619 KMT2C c.3761G>A p.R1254Q Substitution - Missense Endometrium COSM3780518 PHF8 c.1919G>A p.R640Q Substitution - Missense Pancreas COSM465086 BRDT c.2513T>C p.V838A Substitution - Missense Kidney COSM2270917 MGA c.7864C>A p.L2622I Substitution - Missense Large_intestine COSM3397446 KMT2A c.9033A>C p.S3011S Substitution - coding silent Central_nervous_system COSM1737879 ASXL1 c.2149_2149delA p.R717fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5055020 PRMT7 c.485C>T p.A162V Substitution - Missense Stomach COSM5640381 KIAA1045 c.432C>T p.L144L Substitution - coding silent Oesophagus COSM307763 TET2 c.? p.S794* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM42039 TET2 c.3866G>T p.C1289F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1390023 DNMT1 c.2875C>T p.P959S Substitution - Missense Large_intestine COSM1630545 AP001011.3_ENST00000320876 c.438G>A p.A146A Substitution - coding silent Liver COSM5725099 SIRT7 c.1117G>A p.G373S Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5695115 SP140_ENST00000392045 c.1782T>C p.C594C Substitution - coding silent Soft_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1220338 PHF14 c.71A>C p.D24A Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1704052 GLYATL1 c.329C>T p.S110F Substitution - Missense Skin COSM5770830 BRD4 c.1110C>T p.A370A Substitution - coding silent Breast COSM5945318 CREBBP c.2283+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM350605 ATAD2B_ENST00000238789 c.2891G>T p.R964L Substitution - Missense Lung COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1009 SMARCB1 c.897G>A p.S299S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3719663 KIAA1045 c.744G>A p.A248A Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4104933 BRD1 c.1657-2A>C p.? Unknown Stomach COSM474437 DOT1L c.1845G>A p.S615S Substitution - coding silent Kidney COSM5035719 CBX5 c.378C>T p.I126I Substitution - coding silent Oesophagus COSM4947184 BAZ2A c.792A>G p.A264A Substitution - coding silent Ovary COSM3061739 TCF20 c.5093C>T p.S1698L Substitution - Missense Large_intestine COSM4119251 SFMBT1 c.1800C>T p.C600C Substitution - coding silent Stomach COSM5806564 KMT2C c.12432C>G p.L4144L Substitution - coding silent Liver COSM5352281 ARID1A c.? p.V1982I Substitution - Missense Endometrium COSM3455332 TDG c.138C>T p.A46A Substitution - coding silent Skin COSM52988 DNMT3A c.? p.R598* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM415685 KDM4D c.1459G>A p.E487K Substitution - Missense Urinary_tract COSM41741 TET2 c.5618T>C p.I1873T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM432834 CHD8 c.6978G>T p.L2326L Substitution - coding silent Breast COSM5593574 TIF1 c.2603C>T p.P868L Substitution - Missense Skin COSM5570078 HELLS c.1536T>C p.T512T Substitution - coding silent Prostate COSM1015786 TET2 c.73T>C p.C25R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3604082 GABRG1 c.1277C>T p.S426F Substitution - Missense Skin COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM4390743 TP53BP1 c.5448C>T p.F1816F Substitution - coding silent Breast COSM4589545 ATRX c.4377_4379delGGA p.E1464delE Deletion - In frame Bone COSM53527 TRRAP c.8591G>T p.W2864L Substitution - Missense Liver COSM3839612 MSH6 c.1789G>C p.E597Q Substitution - Missense Breast COSM2866572 TRRAP c.3474delG p.G1160fs*25 Deletion - Frameshift Large_intestine COSM132968 ASXL1 c.? p.E635fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM4901461 TRRAP c.10666G>A p.E3556K Substitution - Missense Skin COSM5393735 EP300 c.3262G>A p.D1088N Substitution - Missense Skin COSM5945504 KDM6A c.1516C>T p.Q506* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1077966 RING1 c.238G>T p.G80W Substitution - Missense Endometrium COSM751053 CHD7 c.4778G>T p.R1593L Substitution - Missense Lung COSM2889251 ASXL1 c.1633delC p.R545fs*158 Deletion - Frameshift Central_nervous_system COSM3738500 TET2 c.? p.Y1245C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1081864 PHIP c.2026A>C p.S676R Substitution - Missense Endometrium COSM3742622 SETBP1 c.2687T>C p.F896S Substitution - Missense Liver COSM1130128 CBX8 c.768G>A p.S256S Substitution - coding silent Prostate COSM37030 EZH2 c.1936T>C p.Y646H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM36205 ASXL1 c.3306G>T p.E1102D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85984 ATRX c.718T>G p.C240G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM69355 HDAC3 c.420+1G>T p.? Unknown Ovary COSM97867 KDM3B c.5051C>T p.P1684L Substitution - Missense Upper_aerodigestive_tract COSM99131 PRDM1 c.303+1G>T p.R101fs Unknown Haematopoietic_and_lymphoid_tissue COSM97158 PRDM1 c.1810_1819del10 p.F604fs*32 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM133046 EZH2 c.187C>T p.R63* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM158751 BRPF1 c.2960T>C p.V987A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM166441 ARID2 c.4909C>T p.Q1637* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM239318 CHD8 c.1681C>T p.Q561* Substitution - Nonsense Prostate COSM252834 SMARCD3 c.1402C>T p.R468C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM254670 EP300 c.6883C>A p.Q2295K Substitution - Missense Urinary_tract COSM254840 NCOR1 c.197G>A p.R66Q Substitution - Missense Urinary_tract COSM254943 SP110 c.806C>G p.S269C Substitution - Missense Urinary_tract COSM292697 KAT5 c.130delT p.C44fs*22 Deletion - Frameshift Large_intestine COSM309543 BRWD3 c.2194A>G p.R732G Substitution - Missense Lung COSM307103 PRDM8 c.762C>T p.S254S Substitution - coding silent Central_nervous_system COSM318308 ZMYM1 c.3336G>T p.M1112I Substitution - Missense Lung COSM307325 BAZ2B c.1277A>G p.E426G Substitution - Missense Liver COSM342598 TRRAP c.10360G>T p.E3454* Substitution - Nonsense Lung COSM338822 PHF3 c.425G>C p.R142P Substitution - Missense Lung COSM414900 KDM4A c.3094G>A p.E1032K Substitution - Missense Urinary_tract COSM484156 TDRD6 c.4254C>T p.C1418C Substitution - coding silent Kidney COSM2270968 TET2 c.5412_5413insT p.N1805fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1047223 SFMBT1 c.1364G>A p.R455Q Substitution - Missense Endometrium COSM1030942 PRDM15 c.2667C>T p.A889A Substitution - coding silent Endometrium COSM748355 TRRAP c.1195G>A p.V399I Substitution - Missense Soft_tissue COSM920069 SFMBT2 c.1172C>T p.A391V Substitution - Missense Stomach COSM699938 BAHD1 c.825G>A p.W275* Substitution - Nonsense Lung COSM710263 DNMT1 c.3303C>A p.N1101K Substitution - Missense Lung COSM740042 EYA4 c.581-1G>C p.? Unknown Lung COSM907739 ARID1A c.5365delG p.A1789fs*17 Deletion - Frameshift Endometrium COSM895823 POGZ c.1817A>G p.D606G Substitution - Missense Endometrium COSM1034532 EP300 c.2820T>G p.L940L Substitution - coding silent Endometrium COSM1066266 NSD1 c.4781T>G p.F1594C Substitution - Missense Endometrium COSM1055643 GABRG1 c.756G>A p.T252T Substitution - coding silent Skin COSM1060224 LMNB1 c.1333G>A p.E445K Substitution - Missense Endometrium COSM1124890 TAF1 c.2528G>A p.R843Q Substitution - Missense Endometrium COSM1118761 SCML2 c.1533_1534delTC p.P512fs*1 Deletion - Frameshift Endometrium COSM1080943 PHF3 c.431G>T p.S144I Substitution - Missense Endometrium COSM1228845 TDRKH c.608G>T p.R203I Substitution - Missense Large_intestine COSM1247998 CDYL2 c.684G>A p.K228K Substitution - coding silent Oesophagus COSM1209171 GTF3C1 c.2395C>T p.R799C Substitution - Missense Large_intestine COSM1189285 SETD6 c.551G>A p.R184H Substitution - Missense Stomach COSM1312865 KMT2C c.9750+1G>A p.? Unknown Urinary_tract COSM1309964 WHSC1 c.787C>T p.H263Y Substitution - Missense Urinary_tract COSM1291422 IDH1 c.1109G>A p.G370D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1388720 SETBP1 c.2947C>T p.P983S Substitution - Missense Large_intestine COSM1423644 DHX30 c.2230G>A p.V744M Substitution - Missense Large_intestine COSM1444082 BRPF3 c.2555delC p.P854fs*6 Deletion - Frameshift Large_intestine COSM1366026 RNF17 c.348G>T p.K116N Substitution - Missense Large_intestine COSM1343373 ORC1 c.1491T>A p.V497V Substitution - coding silent Large_intestine COSM1562357 ZMYM2 c.2546C>T p.A849V Substitution - Missense Large_intestine COSM1488671 BAZ1B c.4424_4425insA p.S1476fs*>9 Insertion - Frameshift Breast COSM1630065 NCOR1 c.4513G>A p.V1505I Substitution - Missense Liver COSM1622513 EZH2 c.492G>T p.G164G Substitution - coding silent Liver COSM1676322 RSF1 c.2584A>T p.S862C Substitution - Missense Large_intestine COSM1640881 CHD3 c.811C>T p.R271W Substitution - Missense Stomach COSM1699542 EZH2 c.686C>T p.S229L Substitution - Missense Skin COSM1719479 MECOM c.2550C>T p.F850F Substitution - coding silent Skin COSM1729986 SETBP1 c.779T>C p.F260S Substitution - Missense Large_intestine COSM1743091 CREBBP c.3205G>C p.G1069R Substitution - Missense Biliary_tract COSM1743166 DIDO1 c.5161G>C p.G1721R Substitution - Missense Biliary_tract COSM42037 TET2 c.4210C>T p.R1404* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1734935 MBD6 c.437G>A p.R146H Substitution - Missense Stomach COSM2038998 MTA2 c.317G>A p.C106Y Substitution - Missense Upper_aerodigestive_tract COSM2152386 TP53BP1 c.1971G>A p.E657E Substitution - coding silent Central_nervous_system COSM2112483 SIRT3 c.1126C>A p.L376I Substitution - Missense Large_intestine COSM2739864 SMYD4 c.2327G>A p.G776D Substitution - Missense Large_intestine COSM2802564 KDM6B c.791_792insACCACC p.P264_L265insPP Insertion - In frame Thyroid COSM2802615 KDM6B c.2569G>A p.A857T Substitution - Missense Stomach COSM3296180 MBD5 c.2415T>C p.N805N Substitution - coding silent Upper_aerodigestive_tract COSM3341139 NSD1 c.4050G>A p.P1350P Substitution - coding silent Stomach COSM3377104 ARID1A c.1520A>G p.Q507R Substitution - Missense Pancreas COSM3479307 TDRD5 c.1992C>T p.I664I Substitution - coding silent Skin COSM3495808 BAZ1A c.1345C>T p.P449S Substitution - Missense Skin COSM3508923 SRCAP c.7842C>T p.G2614G Substitution - coding silent Skin COSM3451010 MTA2 c.1531C>T p.P511S Substitution - Missense Skin COSM3463539 BAZ2A c.2253G>A p.K751K Substitution - coding silent Skin COSM3474772 PYGO2 c.468C>T p.P156P Substitution - coding silent Skin COSM3546368 CHD6 c.3236C>T p.P1079L Substitution - Missense Skin COSM3554891 EP300 c.4992C>T p.D1664D Substitution - coding silent Skin COSM3555048 TCF20 c.4588C>T p.P1530S Substitution - Missense Skin COSM3708734 ATRX c.5661G>A p.W1887* Substitution - Nonsense Liver COSM3737170 CHD8 c.2364+5_2364+8delGTAC p.? Unknown Soft_tissue COSM3764326 PHRF1 c.3970T>C p.L1324L Substitution - coding silent Central_nervous_system COSM3770172 KDM6A c.2670C>G p.Y890* Substitution - Nonsense Soft_tissue COSM3780038 KIAA2026_ENST00000399933 c.1819C>T p.P607S Substitution - Missense Urinary_tract COSM3784520 EHMT2 c.2536G>T p.A846S Substitution - Missense Pancreas COSM3818893 NCOR1 c.1174-1G>T p.? Unknown Breast COSM3850432 KDM3B c.679C>T p.R227C Substitution - Missense Stomach COSM3844752 PHF16 c.488T>G p.V163G Substitution - Missense Breast COSM3925327 MYST3 c.734C>T p.S245F Substitution - Missense Skin COSM3877185 PHF14 c.971T>C p.V324A Substitution - Missense Stomach COSM3875667 PHIP c.4514G>A p.R1505Q Substitution - Missense Stomach COSM3945602 SFMBT1 c.2068C>G p.P690A Substitution - Missense Lung COSM4031003 ARID1A c.2017C>T p.Q673* Substitution - Nonsense Stomach COSM4008573 RAD54L c.2199C>T p.F733F Substitution - coding silent Stomach COSM4004383 KMT2C c.9235C>T p.R3079* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4044337 CHD4 c.3079G>A p.V1027M Substitution - Missense Stomach COSM4098452 CHD6 c.4657C>T p.L1553F Substitution - Missense Stomach COSM4092794 HDAC4 c.700G>A p.D234N Substitution - Missense Stomach COSM4110856 ZMYM3 c.3551C>T p.T1184M Substitution - Missense Upper_aerodigestive_tract COSM4119156 PBRM1 c.2890G>A p.V964I Substitution - Missense Stomach COSM4152723 ZMYM2 c.453T>C p.N151N Substitution - coding silent Kidney COSM4242199 RERE c.3660A>G p.P1220P Substitution - coding silent Large_intestine COSM4262921 CDYL2 c.1355G>A p.S452N Substitution - Missense Large_intestine COSM4385518 PHF6 c.941T>C p.I314T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4387426 BAP1 c.170_177GGTCCCGG>AGT p.R57fs*10 Complex - frameshift Eye COSM4395480 TDRD3 c.1177C>T p.P393S Substitution - Missense Skin COSM4503094 ZMYND8 c.630C>T p.F210F Substitution - coding silent Skin COSM4439108 SETD1B c.1434G>A p.G478G Substitution - coding silent Oesophagus COSM4545799 CREBBP c.3867G>A p.K1289K Substitution - coding silent Skin COSM4514878 SFMBT2 c.98C>T p.S33F Substitution - Missense Skin COSM4432704 KMT2D c.511-1G>A p.? Unknown Oesophagus COSM4526464 PRDM9 c.1398G>A p.R466R Substitution - coding silent Liver COSM4726207 SIRT5 c.379C>T p.R127W Substitution - Missense Large_intestine COSM4689731 HDAC9 c.2080_2081insA p.L695fs*5 Insertion - Frameshift Large_intestine COSM4682134 EYA3 c.601A>G p.T201A Substitution - Missense Large_intestine COSM4682165 EZH2 c.604G>T p.D202Y Substitution - Missense Large_intestine COSM4768496 RNF2 c.746A>C p.K249T Substitution - Missense Biliary_tract COSM4698225 LMNA c.1123G>A p.A375T Substitution - Missense Large_intestine COSM4626463 KDM4C c.3163A>T p.R1055* Substitution - Nonsense Large_intestine COSM4625070 ZCWPW2 c.114T>C p.C38C Substitution - coding silent Large_intestine COSM4799888 MBD5 c.3471G>T p.R1157S Substitution - Missense Liver COSM4941264 MLL5 c.1852G>C p.D618H Substitution - Missense Liver COSM4832089 BRWD3 c.3564C>T p.L1188L Substitution - coding silent Cervix COSM4846526 APOBEC1 c.705G>A p.W235* Substitution - Nonsense Cervix COSM4953200 LBR c.843A>G p.V281V Substitution - coding silent Liver COSM4945417 PHF3 c.1A>G p.M1V Substitution - Missense Liver COSM4990242 KMT2D c.12565G>T p.G4189W Substitution - Missense Skin COSM5000605 KDM3B c.353C>A p.P118Q Substitution - Missense Pancreas COSM4973607 POGZ c.2136G>T p.L712F Substitution - Missense Oesophagus COSM4982546 JARID2 c.54T>C p.S18S Substitution - coding silent Oesophagus COSM5349814 KMT2D c.921G>A p.M307I Substitution - Missense Lung COSM5410600 GTF3C4 c.742_743CC>TT p.P248L Substitution - Missense Skin COSM5495492 BRWD1 c.621C>G p.D207E Substitution - Missense Biliary_tract COSM5465880 SETMAR c.932C>T p.S311L Substitution - Missense Large_intestine COSM5434179 PRDM13 c.1054C>G p.H352D Substitution - Missense Oesophagus COSM5631364 NCOA2 c.1707_1708insT p.N570fs*1 Insertion - Frameshift Oesophagus COSM5650511 CHD6 c.2240A>T p.H747L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5615812 KMT2C c.1213G>T p.V405L Substitution - Missense Lung COSM5621955 TAF1 c.2381C>T p.P794L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5703122 KDM1B c.1172T>C p.V391A Substitution - Missense Autonomic_ganglia COSM41748 TET2 c.5687G>T p.R1896M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5832510 ACTA1 c.655_656delTG p.C219fs*69 Deletion - Frameshift Breast COSM5879040 TET2 c.4935T>A p.Y1645* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5803185 MSH6 c.3262T>C p.F1088L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5813680 BPTF c.4890A>T p.T1630T Substitution - coding silent Liver COSM5937507 PHRF1 c.4675-8C>T p.? Unknown Skin COSM5941601 ZMYM1 c.2752G>A p.E918K Substitution - Missense Skin COSM5986542 MGA c.5129_5130insGACCCCA p.K1711fs*18 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5991600 PHF6 c.434_439GTTTTA>TCAGTTC p.S145fs*4 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM5982060 NSD1 c.6004_6009+6delGACAAAGTAAGT p.? Unknown Upper_aerodigestive_tract COSM4972322 ASXL1 c.? p.G645fs*1 Frameshift Haematopoietic_and_lymphoid_tissue COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM21287 BRD3 c.481G>A p.A161T Substitution - Missense Stomach COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM4169589 EZH2 c.? p.L240P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1738031 ASXL1 c.? p.Q592* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3738470 TET2 c.? p.P1419fs*29 Unknown Haematopoietic_and_lymphoid_tissue COSM5347228 ARID1A c.?_?del? p.N1070fs*? Deletion - Frameshift Endometrium COSM253391 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM263907 SUV420H1 c.2006C>T p.A669V Substitution - Missense Large_intestine COSM1262936 PRDM1 c.717A>G p.T239T Substitution - coding silent Oesophagus COSM53126 TET2 c.? p.Q726* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM4701387 MECOM c.1819C>T p.H607Y Substitution - Missense Large_intestine COSM353605 CHD7 c.7672C>T p.P2558S Substitution - Missense Endometrium COSM5635324 KDM2B c.1281C>T p.D427D Substitution - coding silent Oesophagus COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM313087 MYST3 c.2836C>G p.P946A Substitution - Missense Soft_tissue COSM5381693 BRDT c.2540G>A p.R847Q Substitution - Missense Skin COSM5942332 KAT6B c.3752G>A p.G1251E Substitution - Missense Skin COSM684726 JMJD1C c.3326G>A p.R1109H Substitution - Missense Lung COSM1302983 MYST2 c.910G>A p.E304K Substitution - Missense Urinary_tract COSM3398695 KDM5A c.4634T>G p.L1545* Substitution - Nonsense Central_nervous_system COSM1377473 SRCAP c.5112G>A p.T1704T Substitution - coding silent Large_intestine COSM3490033 KDM4A c.1753T>G p.F585V Substitution - Missense Skin COSM1546234 EHMT2 c.1983C>T p.G661G Substitution - coding silent Large_intestine COSM1315514 KDM6A c.832G>T p.E278* Substitution - Nonsense Urinary_tract COSM2169506 SCMH1 c.1028C>T p.A343V Substitution - Missense Large_intestine COSM4014448 ERCC6 c.2203C>T p.R735* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM144630 PHF6 c.? p.R342* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5718949 HELLS c.344C>T p.S115L Substitution - Missense Skin COSM110776 TET2 c.3760A>T p.K1254* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4759177 CHD1 c.3254G>A p.S1085N Substitution - Missense Stomach COSM5811672 RSF1 c.3996A>T p.S1332S Substitution - coding silent Liver COSM4590120 KDM4B c.2128A>G p.K710E Substitution - Missense Upper_aerodigestive_tract COSM3408965 TET2 c.802T>G p.S268A Substitution - Missense Central_nervous_system COSM5074000 TDRD5 c.1356G>A p.P452P Substitution - coding silent Oesophagus COSM2270976 TET2 c.2176C>T p.Q726* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM5621802 SETD1A c.503A>T p.Q168L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM46434 HNF1A c.1067_1073delTGGAGCC p.L356fs*6 Deletion - Frameshift Liver COSM5993303 SETDB1 c.3658C>T p.R1220C Substitution - Missense Prostate COSM5707679 EP300 c.4843delC p.P1615fs*9 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3703041 PHF3 c.3102C>A p.T1034T Substitution - coding silent Liver COSM1353212 SIRT3 c.872T>G p.I291S Substitution - Missense Large_intestine COSM896683 PYGO2 c.331G>A p.A111T Substitution - Missense Endometrium COSM4793770 PRDM10 c.3364G>A p.D1122N Substitution - Missense Liver COSM415788 KDM2A c.3058C>T p.R1020W Substitution - Missense Endometrium COSM4167258 TET2 c.? p.K1142T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5679243 PRDM14 c.455C>A p.P152Q Substitution - Missense Soft_tissue COSM85115 MYST3 c.76C>T p.R26C Substitution - Missense Pancreas COSM4587277 KMT2C c.1017G>C p.K339N Substitution - Missense Bone COSM488387 PHF16 c.1612A>T p.R538* Substitution - Nonsense Kidney COSM4002022 BRWD1 c.247C>G p.Q83E Substitution - Missense Breast COSM5050275 JMJD1C c.5597G>A p.R1866Q Substitution - Missense Stomach COSM1385440 BPTF c.8583A>G p.E2861E Substitution - coding silent Large_intestine COSM1002782 TRIM28 c.1569A>G p.E523E Substitution - coding silent Endometrium COSM1045688 DHX30 c.1196G>A p.G399D Substitution - Missense Endometrium COSM5962083 BRD7 c.789A>G p.S263S Substitution - coding silent Breast COSM3750192 PHF2 c.2964G>T p.P988P Substitution - coding silent Large_intestine COSM52914 BAP1 c.376-7_418del50 p.? Unknown Eye COSM4578898 CCDC101 c.46G>C p.E16Q Substitution - Missense Bone COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41911 TET2 c.5911C>T p.L1971F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5467663 SMARCA2 c.2935C>T p.R979C Substitution - Missense Large_intestine COSM5751755 PHF6 c.28_29insA p.G10fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM338824 PHIP c.2970A>G p.K990K Substitution - coding silent Lung COSM3718572 KDM3A c.2656C>T p.R886W Substitution - Missense Upper_aerodigestive_tract COSM3154293 PRDM1 c.695G>A p.R232H Substitution - Missense Urinary_tract COSM697915 BAZ1A c.851A>G p.H284R Substitution - Missense Lung COSM30493 SETD2 c.3545G>T p.C1182F Substitution - Missense Kidney COSM1069065 C5orf35 c.340G>T p.E114* Substitution - Nonsense Endometrium COSM1630066 NCOR1 c.515C>T p.S172L Substitution - Missense Liver COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5452880 SMARCB1 c.322A>C p.K108Q Substitution - Missense Large_intestine COSM41740 TET2 c.4913C>A p.S1638* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1720212 RAI1 c.3435C>T p.I1145I Substitution - coding silent Skin COSM5047779 KMT2D c.3602G>T p.C1201F Substitution - Missense Oesophagus COSM294174 BRWD1 c.2659C>T p.R887* Substitution - Nonsense Upper_aerodigestive_tract COSM4991933 PBRM1 c.3002C>A p.P1001Q Substitution - Missense Skin COSM1194749 SMARCA4 c.3703G>T p.D1235Y Substitution - Missense Lung COSM1677122 MBD6 c.2942C>T p.A981V Substitution - Missense Large_intestine COSM1252998 GABRG1 c.827A>C p.Q276P Substitution - Missense Stomach COSM1732121 BAP1 c.916G>T p.E306* Substitution - Nonsense Kidney COSM1162880 PRDM16 c.3208G>A p.D1070N Substitution - Missense Pancreas COSM144608 KMT2D c.4897C>T p.R1633* Substitution - Nonsense Bone COSM985474 CHD3 c.2924A>G p.N975S Substitution - Missense Endometrium COSM942998 YEATS4 c.421G>T p.E141* Substitution - Nonsense Endometrium COSM4584369 SETMAR c.1009T>C p.L337L Substitution - coding silent Bone COSM970052 SETD1A c.5026G>A p.V1676M Substitution - Missense Endometrium COSM5157485 LBR c.1188+10G>T p.? Unknown Oesophagus COSM3763884 TAF1L c.3612C>T p.V1204V Substitution - coding silent Large_intestine COSM4040304 EP400 c.8757C>A p.T2919T Substitution - coding silent Stomach COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1638132 ZMYM4 c.4498G>A p.V1500I Substitution - Missense Bone COSM1458077 NCOA2 c.1081A>G p.T361A Substitution - Missense Large_intestine COSM3304562 KMT2C c.1150C>T p.Q384* Substitution - Nonsense Stomach COSM5958946 KMT2D c.6670_6671insG p.F2224fs*12 Insertion - Frameshift Thyroid COSM6000759 SMARCC2 c.67C>A p.Q23K Substitution - Missense Prostate COSM4979747 SMARCA4 c.4540A>G p.I1514V Substitution - Missense Oesophagus COSM4728359 SMARCD3 c.506G>A p.W169* Substitution - Nonsense Large_intestine COSM4599518 SUV420H1 c.403G>A p.E135K Substitution - Missense Upper_aerodigestive_tract COSM4804512 PHRF1 c.1605G>T p.A535A Substitution - coding silent Liver COSM1449816 HDAC9 c.1041G>A p.S347S Substitution - coding silent Large_intestine COSM5751644 KDM6A c.1369C>AC p.H457fs*28 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM4015934 KAT6B c.5869C>T p.R1957W Substitution - Missense Stomach COSM1377461 SRCAP c.2309G>A p.R770H Substitution - Missense Stomach COSM3413104 NCOA2 c.2655G>C p.Q885H Substitution - Missense Central_nervous_system COSM745893 KMT2C c.12063G>T p.L4021L Substitution - coding silent Lung COSM3859974 ARID1B c.2896A>G p.T966A Substitution - Missense Stomach COSM5691420 BRWD1 c.6809G>A p.*2270* Substitution - coding silent Soft_tissue COSM232821 MTA2 c.1507G>A p.A503T Substitution - Missense Skin COSM4800598 BAZ1A c.3297A>C p.P1099P Substitution - coding silent Liver COSM3714467 ZBTB38 c.3277C>T p.R1093C Substitution - Missense Upper_aerodigestive_tract COSM4168128 TDRD6 c.4161T>G p.F1387L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5407192 HDAC9 c.2647C>T p.P883S Substitution - Missense Skin COSM4014440 ERCC6 c.3629A>C p.K1210T Substitution - Missense Stomach COSM4835292 CREBBP c.4869C>A p.A1623A Substitution - coding silent Cervix COSM4169860 TET2 c.2230C>T p.Q744* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM2968163 SMC1A c.3055C>T p.R1019C Substitution - Missense Stomach COSM144635 PHF6 c.? p.N171fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM3751679 TRDMT1 c.168G>A p.T56T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4429332 NCOA2 c.319C>G p.Q107E Substitution - Missense Oesophagus COSM5351179 NSD1 c.5198G>T p.C1733F Substitution - Missense Lung COSM5079549 BRD9 c.38_39insT p.L14fs*2 Insertion - Frameshift Large_intestine COSM4790890 NIPBL c.545G>T p.S182I Substitution - Missense Liver COSM4383945 TET2 c.4191delT p.L1398fs*50 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM907733 ARID1A c.4917delC p.T1640fs*14 Deletion - Frameshift Endometrium COSM207998 MECOM c.1839delA p.G614fs*30 Deletion - Frameshift Oesophagus COSM5497878 HDAC9 c.2906A>G p.E969G Substitution - Missense Biliary_tract COSM4384348 KMT2C c.2407G>C p.A803P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1639693 RBBP5 c.219-7delT p.? Unknown Stomach COSM2931110 DIDO1 c.4544C>T p.S1515L Substitution - Missense Oesophagus COSM4838090 SMCHD1 c.1192C>T p.Q398* Substitution - Nonsense Cervix COSM3451580 MEN1 c.1830C>A p.L610L Substitution - coding silent Skin COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4597867 PRDM9 c.243C>G p.I81M Substitution - Missense Upper_aerodigestive_tract COSM2270962 TET2 c.4052_4053insA p.Y1351fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM21887 SMARCC2 c.2703C>G p.I901M Substitution - Missense Lung COSM4799502 DNMT3L c.498C>T p.A166A Substitution - coding silent Liver COSM168089 KMT2D c.6251delC p.P2084fs*30 Deletion - Frameshift Large_intestine COSM4987393 KDM6B c.2258C>T p.T753I Substitution - Missense Soft_tissue COSM4003461 NSD1 c.6829T>C p.L2277L Substitution - coding silent Liver COSM34192 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM1166702 KMT2C c.13432C>T p.R4478* Substitution - Nonsense Pancreas COSM72168 PHF8 c.1337A>G p.Q446R Substitution - Missense Ovary COSM4624315 DIDO1 c.175C>T p.L59L Substitution - coding silent Large_intestine COSM4647997 NCOR1 c.7293G>A p.Q2431Q Substitution - coding silent Large_intestine COSM1038076 MBD4 c.1325G>A p.R442Q Substitution - Missense Endometrium COSM277583 TAF1 c.3662G>A p.R1221Q Substitution - Missense Large_intestine COSM3703171 SMARCD3 c.398C>T p.A133V Substitution - Missense Liver COSM3685115 KMT2C c.11665A>C p.K3889Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1027542 NCOA3 c.3357G>A p.G1119G Substitution - coding silent Endometrium COSM3568261 BAZ2B c.3371G>A p.G1124E Substitution - Missense Skin COSM1730776 TAF1L c.4199C>T p.P1400L Substitution - Missense Liver COSM4603233 DIDO1 c.4878_4879insC p.A1627fs*53 Insertion - Frameshift Upper_aerodigestive_tract COSM3508239 GTF3C1 c.253T>G p.L85V Substitution - Missense Skin COSM3780723 SMARCA2 c.4432G>A p.A1478T Substitution - Missense Pancreas COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM42016 TET2 c.4393C>T p.R1465* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM198796 PHF2 c.1468delA p.K492fs*6 Deletion - Frameshift Large_intestine COSM5809622 ZMYM1 c.1369A>G p.K457E Substitution - Missense Liver COSM3653749 PHF19 c.609C>G p.P203P Substitution - coding silent Skin COSM1633250 BAP1 c.586T>G p.W196G Substitution - Missense Liver COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1681679 CHD6 c.7381C>T p.P2461S Substitution - Missense Skin COSM5885083 ARID1A c.? p.S499fs*? Frameshift Soft_tissue COSM1661128 CHD6 c.5418A>C p.E1806D Substitution - Missense Kidney COSM272996 NCOA6 c.6161C>T p.A2054V Substitution - Missense Large_intestine COSM1106547 BRD3 c.1122G>T p.Q374H Substitution - Missense Endometrium COSM3912102 BRWD1 c.4672C>T p.R1558C Substitution - Missense Skin COSM85832 MEN1 c.330_346del17 p.G111fs*63 Deletion - Frameshift Pancreas COSM5656326 KMT2D c.859delA p.K287fs*17 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5347218 ARID1A c.?_?del? p.P726fs*? Deletion - Frameshift Endometrium COSM4795363 HDAC4 c.2834G>A p.G945D Substitution - Missense Liver COSM3743813 MSH6 c.3680T>C p.I1227T Substitution - Missense Liver COSM4636465 SETD7 c.1027G>A p.G343R Substitution - Missense Large_intestine COSM315517 SP100 c.36G>A p.R12R Substitution - coding silent Lung COSM1360189 EP400 c.8214G>A p.Q2738Q Substitution - coding silent Large_intestine COSM1716653 ATRX c.2241_2286del46 p.S747fs*6 Deletion - Frameshift Central_nervous_system COSM1755183 KMT2C c.10647G>T p.V3549V Substitution - coding silent Urinary_tract COSM5509251 SHPRH c.986G>A p.S329N Substitution - Missense Biliary_tract COSM3523250 CHD3 c.1536C>T p.I512I Substitution - coding silent Skin COSM1605260 RSF1 c.1415A>G p.Y472C Substitution - Missense Liver COSM726778 BRD1 c.1002C>G p.G334G Substitution - coding silent Lung COSM5588982 SMARCA1 c.1904G>A p.R635K Substitution - Missense Skin COSM1270711 ZBTB33 c.510T>C p.S170S Substitution - coding silent Oesophagus COSM221930 TDRD5 c.2536G>A p.E846K Substitution - Missense Skin COSM5913330 APOBEC1 c.102A>T p.K34N Substitution - Missense Skin COSM993 SMARCB1 c.601C>T p.R201* Substitution - Nonsense Central_nervous_system COSM4992934 KMT2C c.6323C>T p.S2108F Substitution - Missense Skin COSM1205880 EYA3 c.78-2A>G p.? Unknown Large_intestine COSM5628625 HDAC5 c.3261C>T p.S1087S Substitution - coding silent Oesophagus COSM5996036 CHD1 c.4524+4A>G p.? Unknown Prostate COSM4745714 NCOR1 c.130C>T p.R44C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4093225 NCOA1 c.3716C>T p.P1239L Substitution - Missense Stomach COSM1025718 ASXL1 c.472G>A p.A158T Substitution - Missense Endometrium COSM5153613 MORF4L2 c.469G>A p.A157T Substitution - Missense Large_intestine COSM3817099 CHD2 c.569G>A p.R190H Substitution - Missense Breast COSM5623833 SRCAP c.7588G>T p.G2530C Substitution - Missense Oesophagus COSM307320 ARID1A c.3137G>A p.R1046K Substitution - Missense Liver COSM4508563 BAZ1A c.780C>T p.F260F Substitution - coding silent Skin COSM5955265 JMJD1C c.4371G>A p.R1457R Substitution - coding silent Upper_aerodigestive_tract COSM217037 ARID1A c.3843T>G p.Y1281* Substitution - Nonsense Liver COSM5062365 HDAC9 c.820C>T p.P274S Substitution - Missense Stomach COSM4400304 KAT6B c.4776A>C p.Q1592H Substitution - Missense Skin COSM5935045 PRDM9 c.272C>T p.S91F Substitution - Missense Skin COSM144493 DNMT3A c.1118T>C p.L373P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4015114 JMJD1C c.3265C>T p.R1089C Substitution - Missense Stomach COSM3790881 JMJD1C c.5209C>T p.Q1737* Substitution - Nonsense Urinary_tract COSM740325 JARID2 c.1502G>A p.R501Q Substitution - Missense Lung COSM1180918 ASXL1 c.1927delG p.G645fs*58 Deletion - Frameshift Stomach COSM389656 NCOA2 c.142G>T p.E48* Substitution - Nonsense Lung COSM4571449 YEATS4 c.461T>C p.L154S Substitution - Missense Skin COSM716186 BAZ2B c.4258G>A p.E1420K Substitution - Missense Lung COSM4110903 TAF1 c.3181C>T p.R1061C Substitution - Missense Stomach COSM3916452 ACTR8 c.547C>T p.H183Y Substitution - Missense Skin COSM37029 EZH2 c.1937A>C p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3624639 BAG6 c.3072G>A p.R1024R Substitution - coding silent Skin COSM37029 EZH2 c.1937A>C p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1682573 PHF16 c.1435C>A p.L479M Substitution - Missense Large_intestine COSM1007251 EPC2 c.2422T>C p.*808Q Nonstop extension Endometrium COSM326140 PHF21A c.401T>C p.L134P Substitution - Missense Lung COSM3671705 ARID1A c.1793C>A p.P598H Substitution - Missense Prostate COSM312110 JHDM1D c.1333A>G p.K445E Substitution - Missense Soft_tissue COSM126754 JMJD1C c.2350C>T p.Q784* Substitution - Nonsense Upper_aerodigestive_tract COSM3650686 NCOA2 c.1547C>T p.P516L Substitution - Missense Skin COSM4770494 ATRX c.862G>T p.E288* Substitution - Nonsense Autonomic_ganglia COSM225998 SMYD1 c.859C>T p.L287F Substitution - Missense Skin COSM4443419 CHD6 c.1619A>G p.H540R Substitution - Missense Large_intestine COSM452738 KMT2C c.1859_1860insA p.N621fs*1 Insertion - Frameshift Breast COSM5923691 CHD1 c.4222G>A p.E1408K Substitution - Missense Skin COSM4515706 CHD7 c.1261_1262CC>TT p.P421L Substitution - Missense Skin COSM3873186 PHF1 c.410G>A p.R137H Substitution - Missense Stomach COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM107635 ARID2 c.3127C>T p.Q1043* Substitution - Nonsense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM110290 BAZ1B c.1084C>T p.P362S Substitution - Missense Skin COSM3644833 ATAD2 c.382C>T p.P128S Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM131045 CHD5 c.1972A>G p.R658G Substitution - Missense Liver COSM3785296 KDM4A c.2242+9T>A p.? Unknown Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4678915 DNMT3B c.517G>A p.D173N Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1109476 KIAA2026_ENST00000399933 c.1720C>T p.R574C Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1211273 JMJD1C c.4993G>T p.E1665* Substitution - Nonsense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4700974 MBD4 c.1639A>T p.I547F Substitution - Missense Large_intestine COSM5945041 TET2 c.3578G>C p.C1193S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5957108 RAI1 c.837delG p.Q279fs*85 Deletion - Frameshift Thyroid COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM3757367 TRIM28 c.1170G>A p.K390K Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM484935 JHDM1D c.1297A>G p.K433E Substitution - Missense Kidney COSM1333111 TTF2 c.327G>C p.Q109H Substitution - Missense Large_intestine COSM3870947 KDM2B c.609C>T p.I203I Substitution - coding silent Skin COSM5945528 ATRX c.6871A>G p.I2291V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM254542 ARID1A c.5338G>T p.E1780* Substitution - Nonsense Urinary_tract COSM3357069 SMARCA4 c.2920C>T p.P974S Substitution - Missense Skin COSM1670246 BAP1 c.1550C>T p.T517M Substitution - Missense Large_intestine COSM1479275 NCOR1 c.1573_1574insA p.T525fs*11 Insertion - Frameshift Salivary_gland COSM747173 BAZ1B c.2069A>T p.E690V Substitution - Missense Lung COSM5812870 BRPF3 c.1738-2A>T p.? Unknown Liver COSM300813 TDRD5 c.2662G>T p.A888S Substitution - Missense Large_intestine COSM221405 BRDT c.2480A>C p.N827T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2856280 KDM1B c.1519G>A p.E507K Substitution - Missense Large_intestine COSM4608501 SETDB2 c.163C>A p.L55I Substitution - Missense Adrenal_gland COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Endometrium COSM132968 ASXL1 c.? p.E635fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM133053 EZH2 c.247-2A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5748877 BAZ2B c.1291C>T p.R431W Substitution - Missense Pancreas COSM4856527 SMARCA4 c.1701G>T p.L567L Substitution - coding silent Cervix COSM365607 TAF3 c.691G>T p.V231F Substitution - Missense Lung COSM1492088 SCMH1 c.495C>A p.C165* Substitution - Nonsense Kidney COSM1491684 TTF2 c.3345-2A>T p.? Unknown Kidney COSM980837 MYST2 c.131G>T p.R44L Substitution - Missense Endometrium COSM4029316 ACTA1 c.454G>A p.G152S Substitution - Missense Stomach COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM52980 EZH2 c.2069G>A p.R690H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85845 MEN1 c.1038_1038delT p.V347fs*21 Deletion - Frameshift Pancreas COSM76238 RING1 c.329T>G p.I110S Substitution - Missense Liver COSM87135 TET2 c.3818G>C p.C1273S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87111 TET2 c.2878C>T p.Q960* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM87122 TET2 c.3594+3A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM110753 TET2 c.1930C>T p.Q644* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM96370 BAP1 c.580+2T>C p.? Unknown Pleura COSM133560 DOT1L c.1316_1318AGA>CCG p.Q439_T440>PP Complex - compound substitution Ovary COSM216209 KDM6A c.4138_4139insA p.M1380fs*9 Insertion - Frameshift Central_nervous_system COSM283990 PHF21A c.1086G>A p.E362E Substitution - coding silent Large_intestine COSM302483 KIAA2026_ENST00000399933 c.2187_2188insA p.A730fs*15 Insertion - Frameshift Central_nervous_system COSM291954 ASXL1 c.1492G>T p.A498S Substitution - Missense Large_intestine COSM292189 KDM4C c.155C>T p.P52L Substitution - Missense Large_intestine COSM293686 SP140_ENST00000392045 c.2008delA p.K672fs*4 Deletion - Frameshift Large_intestine COSM367673 ZMYM5 c.854G>T p.R285L Substitution - Missense Lung COSM383307 HDAC4 c.809G>T p.R270L Substitution - Missense Lung COSM453644 TRRAP c.3647G>A p.R1216Q Substitution - Missense Endometrium COSM465845 JMJD1C c.5006G>C p.W1669S Substitution - Missense Kidney COSM979851 HDAC5 c.2796T>C p.I932I Substitution - coding silent Endometrium COSM983315 BPTF c.2895T>G p.P965P Substitution - coding silent Endometrium COSM693057 ATF7IP c.3225C>A p.P1075P Substitution - coding silent Lung COSM942091 MBD6 c.2575C>T p.R859W Substitution - Missense Endometrium COSM753350 KIAA2026_ENST00000399933 c.5410A>G p.N1804D Substitution - Missense Lung COSM750473 WHSC1L1 c.1552T>C p.F518L Substitution - Missense Lung COSM912513 RERE c.3732C>T p.P1244P Substitution - coding silent Endometrium COSM904648 LBR c.143A>C p.E48A Substitution - Missense Endometrium COSM895014 PRDM2 c.2533G>A p.E845K Substitution - Missense Endometrium COSM1067649 NIPBL c.1091G>A p.R364H Substitution - Missense Breast COSM1073483 EYA4 c.566G>T p.S189I Substitution - Missense Endometrium COSM1073491 EYA4 c.1576C>G p.L526V Substitution - Missense Endometrium COSM1075359 ARID1B c.5298C>T p.F1766F Substitution - coding silent Endometrium COSM1108251 TAF1L c.585G>A p.L195L Substitution - coding silent Large_intestine COSM1131918 EHMT2 c.50C>A p.A17D Substitution - Missense Upper_aerodigestive_tract COSM1104230 POLE3 c.347C>A p.S116* Substitution - Nonsense Endometrium COSM1096247 PHF20L1 c.95G>A p.R32Q Substitution - Missense Endometrium COSM1099530 ASH2L c.212G>A p.S71N Substitution - Missense Endometrium COSM1095772 ATAD2 c.592C>T p.R198* Substitution - Nonsense Large_intestine COSM1083673 MLL5 c.1418G>A p.R473H Substitution - Missense Large_intestine COSM1180942 HDAC11 c.285delC p.V98fs*14 Deletion - Frameshift Large_intestine COSM1255498 KDM4D c.868G>A p.A290T Substitution - Missense Stomach COSM1261009 PBRM1 c.313G>T p.E105* Substitution - Nonsense Oesophagus COSM1225435 SFMBT2 c.1849C>T p.R617W Substitution - Missense Breast COSM1283240 ACTL6B c.1231C>A p.Q411K Substitution - Missense Autonomic_ganglia COSM1283682 BRWD3 c.1685G>A p.R562H Substitution - Missense Autonomic_ganglia COSM1331786 PHF8 c.2524C>A p.P842T Substitution - Missense Ovary COSM1327404 BRWD1 c.434C>T p.S145F Substitution - Missense Ovary COSM1333461 PRDM2 c.4423G>A p.A1475T Substitution - Missense Large_intestine COSM1388299 AP001011.3_ENST00000320876 c.2656C>T p.R886* Substitution - Nonsense Stomach COSM1388301 SMCHD1 c.1000C>T p.R334* Substitution - Nonsense Stomach COSM1363779 CHD4 c.218delA p.K73fs*129 Deletion - Frameshift Biliary_tract COSM1363779 CHD4 c.218delA p.K73fs*129 Deletion - Frameshift Large_intestine COSM1568689 PHF14 c.2500C>T p.R834* Substitution - Nonsense Large_intestine COSM1489408 NCOA2 c.254A>T p.E85V Substitution - Missense Breast COSM1482080 BAZ2B c.29C>T p.S10L Substitution - Missense Breast COSM1578670 EZH1 c.366G>A p.M122I Substitution - Missense Meninges COSM1636197 KIAA2026_ENST00000399933 c.1066C>T p.P356S Substitution - Missense Liver COSM1688029 BRDT c.1057C>T p.P353S Substitution - Missense Skin COSM1711206 INO80C c.511C>T p.R171W Substitution - Missense Skin COSM1716512 EP300 c.4540G>A p.E1514K Substitution - Missense Lung COSM1757206 TRRAP c.6020A>T p.Q2007L Substitution - Missense Urinary_tract COSM2034940 GLYATL1 c.106C>T p.P36S Substitution - Missense Skin COSM2156613 NCOA3 c.1776C>T p.H592H Substitution - coding silent Central_nervous_system COSM2221769 TRIM66 c.3481T>A p.S1161T Substitution - Missense Large_intestine COSM2859924 TRIM24 c.2669delA p.K892fs*9 Deletion - Frameshift Large_intestine COSM3363434 SETD4 c.549G>A p.L183L Substitution - coding silent Kidney COSM3390393 ZBTB33 c.421G>T p.D141Y Substitution - Missense Pancreas COSM3386858 INOC1 c.764C>T p.S255F Substitution - Missense Pancreas COSM3419155 ZMYM1 c.924C>A p.F308L Substitution - Missense Large_intestine COSM3447097 RAG2 c.447G>A p.G149G Substitution - coding silent Skin COSM3636543 KMT2C c.1003C>T p.P335S Substitution - Missense Skin COSM3620828 EYA4 c.1519A>G p.K507E Substitution - Missense Skin COSM3662778 KMT2C c.2491A>G p.T831A Substitution - Missense Liver COSM3657744 KDM4C c.749C>T p.S250L Substitution - Missense Skin COSM3700159 EED c.966+3A>G p.? Unknown Liver COSM3665842 SFMBT2 c.2215G>A p.E739K Substitution - Missense Liver COSM3731369 ZMYM4 c.1281_1282insA p.P431fs*9 Insertion - Frameshift Large_intestine COSM3727236 L3MBTL4 c.737C>T p.P246L Substitution - Missense Skin COSM3733485 KMT2D c.4366G>T p.E1456* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3764459 ZMYM2 c.2005G>T p.D669Y Substitution - Missense Central_nervous_system COSM3808483 KMT2A c.5515A>G p.T1839A Substitution - Missense Breast COSM3790086 RAD54L c.165G>C p.L55F Substitution - Missense Cervix COSM3858841 SHPRH c.3744T>C p.C1248C Substitution - coding silent Stomach COSM3839026 HDAC4 c.981G>A p.T327T Substitution - coding silent Breast COSM3844739 KDM6A c.3758T>G p.V1253G Substitution - Missense Breast COSM3841917 BRWD1 c.5290G>C p.D1764H Substitution - Missense Breast COSM3844038 HCFC1 c.2734G>A p.V912I Substitution - Missense Breast COSM3846166 MBD4 c.675C>T p.F225F Substitution - coding silent Breast COSM3878488 TRIM24 c.1500G>A p.G500G Substitution - coding silent Stomach COSM3893063 PRMT1 c.737C>T p.P246L Substitution - Missense Skin COSM3951263 ATAD2 c.2345+10T>A p.? Unknown Lung COSM3983290 RAI1 c.5635C>A p.H1879N Substitution - Missense Ovary COSM4049566 MTA1 c.2038G>A p.A680T Substitution - Missense Stomach COSM4042401 KMT2D c.2876C>T p.P959L Substitution - Missense Prostate COSM3996117 NCOA2 c.201T>G p.P67P Substitution - coding silent Kidney COSM3988427 SRCAP c.6288A>G p.E2096E Substitution - coding silent Kidney COSM4111270 BRWD3 c.1773T>A p.D591E Substitution - Missense Stomach COSM4074001 CARM1 c.561C>T p.I187I Substitution - coding silent Stomach COSM4068051 AKAP1 c.1618A>G p.T540A Substitution - Missense Stomach COSM4070396 CHD3 c.5641C>T p.R1881C Substitution - Missense Stomach COSM4149565 PHF2 c.2022G>A p.R674R Substitution - coding silent Ovary COSM4153115 TRRAP c.632C>A p.T211K Substitution - Missense Kidney COSM4383933 TET2 c.4012A>T p.K1338* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4600902 BTAF1 c.2494G>A p.D832N Substitution - Missense Upper_aerodigestive_tract COSM4562356 SRCAP c.9237G>A p.R3079R Substitution - coding silent Skin COSM4497724 CBX8 c.502C>T p.R168* Substitution - Nonsense Skin COSM4546620 PHF21B c.403G>A p.E135K Substitution - Missense Large_intestine COSM4589612 KMT2D c.2343_2344insC p.S783fs*12 Insertion - Frameshift Skin COSM4450425 MBTD1 c.113-1G>A p.? Unknown Skin COSM4717481 PRDM15 c.2090C>T p.S697L Substitution - Missense Large_intestine COSM4695070 JMJD5 c.763G>A p.V255I Substitution - Missense Large_intestine COSM4742151 ZBTB38 c.3585T>C p.L1195L Substitution - coding silent Large_intestine COSM4622317 TDRD5 c.2668G>T p.D890Y Substitution - Missense Large_intestine COSM4607935 SHPRH c.3556C>A p.L1186I Substitution - Missense Adrenal_gland COSM4617961 PRMT1 c.738G>A p.P246P Substitution - coding silent Large_intestine COSM4755255 BAP1 c.661G>T p.E221* Substitution - Nonsense Stomach COSM4791807 PRDM9 c.1451T>C p.M484T Substitution - Missense Liver COSM4926722 SND1 c.938C>A p.A313E Substitution - Missense Liver COSM4987204 NSD1 c.1840G>T p.V614L Substitution - Missense Skin COSM5026798 MLL5 c.3323T>C p.M1108T Substitution - Missense Breast COSM5020616 KMT2A c.4284A>C p.I1428I Substitution - coding silent Biliary_tract COSM5151681 PHC3 c.784G>A p.A262T Substitution - Missense Large_intestine COSM5218205 CHD8 c.4044delA p.G1349fs*35 Deletion - Frameshift Breast COSM5375648 BAZ2A_ENST00000379441 c.2724C>T p.L908L Substitution - coding silent Skin COSM5386404 EZH1 c.2085C>T p.N695N Substitution - coding silent Skin COSM5453449 EYA3 c.367T>G p.L123V Substitution - Missense Large_intestine COSM5611666 DAXX c.559C>T p.Q187* Substitution - Nonsense Adrenal_gland COSM5753609 KMT2A c.11522G>A p.R3841Q Substitution - Missense Large_intestine COSM5726742 ERCC6 c.1169G>A p.G390E Substitution - Missense Skin COSM5721608 PWWP2B c.1669C>T p.R557C Substitution - Missense Skin COSM5586770 TDG c.1027G>A p.G343S Substitution - Missense Skin COSM5682683 TAF1 c.2177A>G p.H726R Substitution - Missense Soft_tissue COSM5547033 PHF15 c.333delC p.P113fs*53 Deletion - Frameshift Prostate COSM5555052 BPTF c.7167C>T p.G2389G Substitution - coding silent Prostate COSM5811228 ERCC6 c.2279A>C p.N760T Substitution - Missense Liver COSM5948812 NSD1 c.4091G>A p.G1364E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6004677 BRWD1 c.4975C>T p.R1659W Substitution - Missense Prostate COSM5992862 KDM4A c.2301A>G p.S767S Substitution - coding silent Prostate COSM6008979 KMT2C c.10913C>G p.S3638* Substitution - Nonsense Large_intestine COSM6004501 CHD6 c.4792T>C p.C1598R Substitution - Missense Prostate COSM5992256 KDM4A c.2300C>A p.S767* Substitution - Nonsense Prostate COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM166348 DNMT3A c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1169678 TET2 c.? p.M993fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM132980 ASXL1 c.? p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1685350 EZH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4169392 ARID1A c.? p.P1569L Substitution - Missense Skin COSM5574263 IDH1 c.? p.R119Q Substitution - Missense Bone COSM4169552 DNMT3A c.? p.D781H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4983413 BAZ1A c.1986A>T p.E662D Substitution - Missense Oesophagus COSM6012573 ARID1B c.6121C>T p.P2041S Substitution - Missense Skin COSM2152702 PRDM9 c.1760G>A p.R587Q Substitution - Missense Central_nervous_system COSM1333459 PRDM2 c.4270delA p.N1426fs*3 Deletion - Frameshift Large_intestine COSM3729906 MBD4 c.939delA p.E314fs*4 Deletion - Frameshift Large_intestine COSM5611056 TRRAP c.1568C>T p.P523L Substitution - Missense Skin COSM251421 ARID1A c.6260G>A p.G2087E Substitution - Missense Liver COSM1641675 BAZ2B c.1947A>T p.E649D Substitution - Missense Stomach COSM86082 KMT2C c.2418C>G p.S806S Substitution - coding silent Soft_tissue COSM1066206 NSD1 c.1483G>A p.A495T Substitution - Missense Endometrium COSM1474223 RERE c.532G>A p.D178N Substitution - Missense Breast COSM3737469 PRDM2 c.4239G>C p.S1413S Substitution - coding silent Soft_tissue COSM4147011 PRMT8 c.198C>A p.N66K Substitution - Missense Thyroid COSM727028 EP300 c.4241A>G p.Y1414C Substitution - Missense Oesophagus COSM4612268 ATAD2B_ENST00000238789 c.3477_3478insA p.D1160fs*2 Insertion - Frameshift Large_intestine COSM3488182 RBBP4 c.597C>T p.D199D Substitution - coding silent Skin COSM1266247 SMARCC1 c.2531C>T p.T844I Substitution - Missense Stomach COSM4385069 ASXL1 c.1225A>T p.K409* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3522238 ZBTB4 c.281C>T p.S94F Substitution - Missense Skin COSM1726901 SETD2 c.470A>G p.N157S Substitution - Missense Liver COSM2069239 RNF17 c.1026G>A p.P342P Substitution - coding silent Pancreas COSM87011 DNMT3A c.2141C>G p.S714C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1663335 PBRM1 c.2627G>A p.R876H Substitution - Missense Large_intestine COSM3705797 PHC2 c.347C>A p.S116Y Substitution - Missense Liver COSM26550 SETDB1 c.370G>C p.E124Q Substitution - Missense Upper_aerodigestive_tract COSM5730889 MGA c.3123G>A p.R1041R Substitution - coding silent Breast COSM144626 PHF6 c.955C>T p.R319* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1060 SMARCB1 c.1144delG p.A382fs*4 Deletion - Frameshift Central_nervous_system COSM416887 PYGO1 c.119G>A p.R40H Substitution - Missense Urinary_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Soft_tissue COSM3523597 BAHCC1 c.6465C>T p.A2155A Substitution - coding silent Large_intestine COSM3755969 KDM6B c.2172G>A p.P724P Substitution - coding silent Large_intestine COSM4732894 TDRD10 c.299T>C p.L100P Substitution - Missense Large_intestine COSM483196 PRDM13 c.2039A>G p.K680R Substitution - Missense Kidney COSM5020474 EZH2 c.2110+6T>G p.? Unknown Soft_tissue COSM5990101 TET2 c.781delT p.S261fs*32 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4590120 KDM4B c.2128A>G p.K710E Substitution - Missense Upper_aerodigestive_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM4772376 MEN1 c.1546C>T p.R516W Substitution - Missense Stomach COSM5711949 HDAC6 c.3245G>C p.G1082A Substitution - Missense Soft_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM5387551 CBX8 c.1042G>A p.E348K Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM2812145 SETBP1 c.4347C>T p.F1449F Substitution - coding silent Skin COSM3510233 CHD9 c.5675C>T p.S1892F Substitution - Missense Skin COSM5795673 SETD3 c.927T>G p.I309M Substitution - Missense Breast COSM1056171 CLOCK c.718A>G p.T240A Substitution - Missense Endometrium COSM5153181 PHF19 c.1144G>A p.E382K Substitution - Missense Large_intestine COSM87125 TET2 c.3643_3644insG p.E1215fs*8 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4146786 SETD8 c.364G>C p.G122R Substitution - Missense Large_intestine COSM52869 PBRM1 c.4187_4199del13 p.V1396fs*32 Deletion - Frameshift Kidney COSM4917013 EPC1 c.2236A>T p.T746S Substitution - Missense Liver COSM324167 UBR7 c.1069C>G p.L357V Substitution - Missense Lung COSM1238792 EPC1 c.1579C>T p.R527W Substitution - Missense Large_intestine COSM1731290 SETD2 c.4090G>T p.E1364* Substitution - Nonsense Liver COSM4603590 KMT2C c.2448_2449insA p.I817fs*11 Insertion - Frameshift Upper_aerodigestive_tract COSM4527164 LBR c.1444G>A p.V482M Substitution - Missense Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM461907 L3MBTL3 c.511C>A p.R171R Substitution - coding silent Endometrium COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM5347579 ARID2 c.1576_1580+2delCAGTGGT p.? Unknown Liver COSM1489366 CHD7 c.8096T>A p.M2699K Substitution - Missense Breast COSM3501012 INOC1 c.1012C>G p.R338G Substitution - Missense Skin COSM1662780 KMT2A c.1623A>T p.R541S Substitution - Missense Kidney COSM1639021 PRDM4 c.199G>A p.A67T Substitution - Missense Stomach COSM3764909 PRMT2 c.568A>G p.T190A Substitution - Missense Central_nervous_system COSM3782708 EP400 c.4171G>A p.A1391T Substitution - Missense Prostate COSM4464727 PHF13 c.134C>A p.P45Q Substitution - Missense Skin COSM1617433 KAT2B c.430+4A>C p.? Unknown Liver COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4767822 ZMYM4 c.670-7G>T p.? Unknown Biliary_tract COSM2153019 TFPT c.218G>A p.R73H Substitution - Missense Central_nervous_system COSM3811502 EP400 c.4387C>T p.Q1463* Substitution - Nonsense Breast COSM5406009 ACTL6B c.822G>A p.Q274Q Substitution - coding silent Skin COSM87001 DNMT3A c.2644C>A p.R882S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4973741 HDAC7 c.559C>T p.R187W Substitution - Missense Oesophagus COSM5634292 CHD2 c.3401C>A p.A1134E Substitution - Missense Oesophagus COSM87012 DNMT3A c.1903C>T p.R635W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4591233 NCOR1 c.534G>C p.K178N Substitution - Missense Upper_aerodigestive_tract COSM1411122 DNMT3B c.1102A>C p.R368R Substitution - coding silent Large_intestine COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM437204 BPTF c.6000C>T p.G2000G Substitution - coding silent Breast COSM4387141 CBX6 c.904C>T p.P302S Substitution - Missense Lung COSM5422731 TET2 c.4528C>G p.Q1510E Substitution - Missense Prostate COSM3021829 JARID2 c.1651T>C p.W551R Substitution - Missense Oesophagus COSM46445 HNF1A c.629C>T p.S210F Substitution - Missense Large_intestine COSM4590719 KAT2A c.1583C>T p.S528F Substitution - Missense Upper_aerodigestive_tract COSM3463548 BAZ2A c.919C>T p.P307S Substitution - Missense Skin COSM954428 CHD8 c.4814C>T p.A1605V Substitution - Missense Endometrium COSM1483713 NCOA3 c.3741_3749delGCAGCAGCA p.Q1274_Q1276delQQQ Deletion - In frame Large_intestine COSM4925780 RBBP5 c.92C>T p.T31I Substitution - Missense Liver COSM2157821 GTF3C4 c.1179_1180insG p.A394fs*51 Insertion - Frameshift Central_nervous_system COSM895845 POGZ c.1140T>C p.C380C Substitution - coding silent Endometrium COSM2182721 SETDB1 c.2086G>A p.E696K Substitution - Missense Breast COSM3386189 KDM4A c.2496C>A p.F832L Substitution - Missense Pancreas COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5787476 SETD1A c.4409-10C>T p.? Unknown Breast COSM4036884 RSF1 c.2410G>A p.E804K Substitution - Missense Stomach COSM1433181 PHF15 c.1576G>A p.D526N Substitution - Missense Large_intestine COSM1226968 SND1 c.614G>A p.G205D Substitution - Missense Large_intestine COSM4438234 JMJD1C c.353G>T p.R118L Substitution - Missense Oesophagus COSM359981 BRD9 c.615G>C p.A205A Substitution - coding silent Lung COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1440426 L3MBTL3 c.1429delA p.M479fs*1 Deletion - Frameshift Large_intestine COSM4100221 DIDO1 c.457G>A p.D153N Substitution - Missense Stomach COSM4753873 PRDM15 c.1081C>T p.R361W Substitution - Missense Stomach COSM320778 HDAC4 c.1495C>G p.Q499E Substitution - Missense Lung COSM3738213 CHD7 c.3583G>T p.E1195* Substitution - Nonsense Soft_tissue COSM4742159 ZBTB4 c.1903delG p.E635fs*104 Deletion - Frameshift Large_intestine COSM3920561 PRDM1 c.1844G>A p.R615Q Substitution - Missense Skin COSM230850 EYA3 c.335C>T p.T112I Substitution - Missense Skin COSM3375458 EPC1 c.1569A>G p.S523S Substitution - coding silent Pancreas COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Central_nervous_system COSM97087 TET2 c.3894T>G p.C1298W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3420905 GTF3C1 c.1674C>T p.S558S Substitution - coding silent Large_intestine COSM4002711 SETD2 c.1731G>T p.M577I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1297349 JMJD1C c.5374G>A p.E1792K Substitution - Missense Urinary_tract COSM441296 BAZ2B c.4033G>A p.E1345K Substitution - Missense Breast COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5974014 PHF20 c.2386C>G p.P796A Substitution - Missense Upper_aerodigestive_tract COSM1177838 BAZ1B c.138T>G p.S46R Substitution - Missense Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3153256 L3MBTL2 c.799G>A p.V267I Substitution - Missense Large_intestine COSM445938 PHC3 c.1362C>T p.A454A Substitution - coding silent Breast COSM2965310 KDM6A c.493C>T p.R165* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4413456 KDM2A c.2651G>T p.W884L Substitution - Missense Genital_tract COSM3911767 DIDO1 c.590C>T p.P197L Substitution - Missense Skin COSM3716294 KIAA2026_ENST00000399933 c.287G>T p.G96V Substitution - Missense Upper_aerodigestive_tract COSM1936739 BAZ2A c.441C>T p.P147P Substitution - coding silent Oesophagus COSM3417408 ZMYM5 c.1097A>C p.K366T Substitution - Missense Large_intestine COSM1108241 TAF1L c.2218G>A p.E740K Substitution - Missense Breast COSM4671998 CHD4 c.3395G>A p.G1132E Substitution - Missense Large_intestine COSM1302009 BRD7 c.1603G>C p.D535H Substitution - Missense Urinary_tract COSM41293 IDH1 c.? p.R132S Substitution - Missense Bone COSM4125218 CLOCK c.53A>C p.D18A Substitution - Missense Stomach COSM308280 KMT2C c.9934C>T p.Q3312* Substitution - Nonsense Breast COSM1614602 HDAC4 c.637C>T p.Q213* Substitution - Nonsense Liver COSM4410607 SETD2 c.3457_3458insGAAG p.V1153fs*11 Insertion - Frameshift Kidney COSM1211277 JMJD6 c.413G>A p.G138D Substitution - Missense Large_intestine COSM4002750 PBRM1 c.996-4G>A p.? Unknown Large_intestine COSM5985835 KDM5A c.604C>T p.Q202* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM394587 KDM4C c.513G>T p.E171D Substitution - Missense Lung COSM389731 KDM6A c.1616C>G p.S539C Substitution - Missense Lung COSM1581805 TAF1L c.2992A>T p.K998* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM454578 MYST3 c.2811G>C p.K937N Substitution - Missense Breast COSM1363039 SMARCC2 c.3128delC p.P1043fs*18 Deletion - Frameshift Large_intestine COSM1299720 MBD6 c.199_200CC>TT p.P67L Substitution - Missense Urinary_tract COSM4397069 BRD4 c.1912C>T p.Q638* Substitution - Nonsense Skin COSM3397450 KMT2A c.11095G>C p.E3699Q Substitution - Missense Central_nervous_system COSM3978793 KAT6B c.2463C>A p.V821V Substitution - coding silent Lung COSM1586690 CHD4 c.2655C>A p.F885L Substitution - Missense Endometrium COSM226129 PRDM9 c.2358A>C p.R786S Substitution - Missense Endometrium COSM1688034 BRDT c.2227G>A p.E743K Substitution - Missense Skin COSM5782323 SND1 c.2067G>A p.E689E Substitution - coding silent Breast COSM3650723 EYA1 c.884T>G p.L295W Substitution - Missense Skin COSM127889 EP300 c.1881G>A p.A627A Substitution - coding silent Upper_aerodigestive_tract COSM1225363 SETD2 c.4055T>C p.L1352P Substitution - Missense Large_intestine COSM51200 ASXL1 c.1888_1910del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4505582 MGMT c.603C>T p.S201S Substitution - coding silent Skin COSM1167993 ARID2 c.3937C>T p.Q1313* Substitution - Nonsense Upper_aerodigestive_tract COSM5900920 KMT2D c.14030C>T p.P4677L Substitution - Missense Skin COSM3472831 PRDM2 c.4300C>T p.L1434F Substitution - Missense Skin COSM5921710 NCOA6 c.5435C>T p.S1812L Substitution - Missense Skin COSM5706111 SRCAP c.4399G>A p.A1467T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5425863 BRD8 c.3381A>G p.P1127P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM51468 ARID1A c.149_150insG p.K51fs*60 Insertion - Frameshift Ovary COSM5911127 HDAC8 c.368C>G p.A123G Substitution - Missense Skin COSM5996480 BAG6 c.305C>T p.T102M Substitution - Missense Prostate COSM5788481 TAF1 c.221T>G p.L74R Substitution - Missense Breast COSM4383867 TET2 c.2689delC p.Q897fs*24 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5722747 SETBP1 c.2717C>T p.P906L Substitution - Missense Skin COSM5422922 TIF1 c.2764T>G p.Y922D Substitution - Missense Prostate COSM5407189 HDAC9 c.2598C>T p.G866G Substitution - coding silent Skin COSM1387358 CHD3 c.2289delG p.L765fs*1 Deletion - Frameshift Large_intestine COSM339031 SETBP1 c.1063G>A p.V355I Substitution - Missense Lung COSM5575227 MGA c.8825A>C p.E2942A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM110755 TET2 c.5539_5541TGG>A p.W1847fs*11 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM3627968 TDRD6 c.5033C>T p.P1678L Substitution - Missense Skin COSM4993656 CHD2 c.4097_4098insGCCTCGG p.R1367fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4445162 CHD7 c.583C>T p.R195C Substitution - Missense Large_intestine COSM1035237 BRD1 c.2073G>A p.P691P Substitution - coding silent Endometrium COSM3434303 TDRD1 c.3334G>A p.A1112T Substitution - Missense Skin COSM452722 KMT2C c.3358G>T p.E1120* Substitution - Nonsense Breast COSM4525549 EP400 c.1338G>T p.Q446H Substitution - Missense Skin COSM454577 MYST3 c.3506G>A p.R1169Q Substitution - Missense Breast COSM137058 SETD6 c.569A>C p.H190P Substitution - Missense Skin COSM5068617 L3MBTL3 c.165_166insA p.A58fs*64 Insertion - Frameshift Large_intestine COSM5461549 PHC1 c.1271C>T p.A424V Substitution - Missense Liver COSM5735372 PHC2 c.2216G>A p.R739H Substitution - Missense Small_intestine COSM3879512 KMT2C c.13298C>T p.A4433V Substitution - Missense Stomach COSM1230633 TRRAP c.10819G>A p.D3607N Substitution - Missense Large_intestine COSM289942 KMT2C c.2447_2448insA p.Y816fs*1 Insertion - Frameshift Large_intestine COSM21486 HNF1A c.872delC p.P291fs*51 Deletion - Frameshift Large_intestine COSM1028988 DIDO1 c.2011C>T p.R671W Substitution - Missense Large_intestine COSM278675 ADNP c.3096C>A p.S1032S Substitution - coding silent Large_intestine COSM4928497 TDRD1 c.3344T>G p.L1115R Substitution - Missense Liver COSM3828003 NIPBL c.2877G>A p.P959P Substitution - coding silent Breast COSM3407985 INO80B c.932G>A p.R311H Substitution - Missense Central_nervous_system COSM5751195 SUZ12 c.787_788insT p.N263fs*5 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM42040 TET2 c.4240C>T p.Q1414* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4845828 NCOA7 c.2767G>A p.D923N Substitution - Missense Cervix COSM1155823 ASXL1 c.3751C>T p.Q1251* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1439484 PRDM1 c.14T>C p.M5T Substitution - Missense Large_intestine COSM254572 BRPF1 c.3347G>A p.R1116Q Substitution - Missense Urinary_tract COSM1298428 KAT5 c.545G>A p.R182Q Substitution - Missense Large_intestine COSM5945604 PHF6 c.725G>C p.C242S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM95706 MECOM c.569-2A>T p.? Unknown Lung COSM1268748 TRRAP c.369G>A p.T123T Substitution - coding silent Stomach COSM985377 KDM6B c.752_753insACCACC p.P264_L265insPP Insertion - In frame Thyroid COSM3494913 CHD8 c.6698G>T p.S2233I Substitution - Missense Skin COSM266053 ASXL3 c.2529G>T p.K843N Substitution - Missense Large_intestine COSM262038 MLL5 c.3827G>A p.R1276Q Substitution - Missense Large_intestine COSM4109796 HDAC6 c.1122A>G p.A374A Substitution - coding silent Stomach COSM3735030 SMARCA4 c.2275-1G>T p.? Unknown Breast COSM236894 TTF2 c.1123A>G p.T375A Substitution - Missense Prostate COSM4410598 PBRM1 c.1168_1169insT p.Y390fs*2 Insertion - Frameshift Kidney COSM6012571 ARID1B c.2411G>T p.G804V Substitution - Missense Skin COSM4694924 KDM3A c.708G>A p.P236P Substitution - coding silent Large_intestine COSM3140173 BRD9 c.981G>A p.L327L Substitution - coding silent Oesophagus COSM970604 CREBBP c.1874G>A p.R625H Substitution - Missense Endometrium COSM3868523 KMT2A c.6442C>T p.P2148S Substitution - Missense Skin COSM1328822 NIPBL c.3559A>T p.K1187* Substitution - Nonsense Ovary COSM4750312 JARID2 c.3135G>T p.K1045N Substitution - Missense Stomach COSM1406134 SP100 c.2275delA p.K761fs*40 Deletion - Frameshift Breast COSM41705 TET2 c.3593G>A p.W1198* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5347221 ARID1A c.?_?del? p.Q492fs*? Deletion - Frameshift Endometrium COSM3236572 HCFC1 c.1861G>A p.A621T Substitution - Missense Breast COSM4077672 DPF1 c.760C>T p.R254* Substitution - Nonsense Stomach COSM5773971 NCOR1 c.5561G>C p.R1854T Substitution - Missense Breast COSM52995 EZH2 c.863G>A p.R288Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4853854 EP400 c.483C>T p.L161L Substitution - coding silent Cervix COSM4137120 DIDO1 c.5301C>T p.H1767H Substitution - coding silent Ovary COSM21487 HNF1A c.526+1G>A p.? Unknown Liver COSM3695847 ZBTB38 c.2880C>T p.C960C Substitution - coding silent Large_intestine COSM5910037 MECP2 c.892G>A p.E298K Substitution - Missense Skin COSM1753243 DHX30 c.1018G>A p.E340K Substitution - Missense Cervix COSM21471 HNF1A c.617G>T p.W206L Substitution - Missense Liver COSM1732310 DHX30 c.3334G>A p.D1112N Substitution - Missense Soft_tissue COSM5376806 SETDB2 c.1529C>T p.S510F Substitution - Missense Skin COSM5708588 TBL1XR1 c.869C>G p.T290R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5500499 RAG2 c.923C>A p.T308N Substitution - Missense Biliary_tract COSM700640 MGA c.2686C>A p.R896R Substitution - coding silent Lung COSM3378377 KDM6B c.496C>T p.R166* Substitution - Nonsense Pancreas COSM1492754 PRDM4 c.2404T>A p.*802K Nonstop extension Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM5420342 RERE c.2089G>T p.G697C Substitution - Missense Pancreas COSM5777308 BRDT c.1556G>T p.S519I Substitution - Missense Breast COSM221072 KMT2D c.12321G>A p.W4107* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1199739 CBX7 c.733C>T p.R245* Substitution - Nonsense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM989 SMARCB1 c.1130G>A p.R377H Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1740359 PHF12 c.2876A>G p.Q959R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1659673 PBRM1 c.2088C>G p.Y696* Substitution - Nonsense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM310890 EP400 c.5789delT p.C1932fs*13 Deletion - Frameshift Lung COSM3780833 PRDM1 c.1260G>T p.L420L Substitution - coding silent Pancreas COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5731038 SETD2 c.4703_4707delATAAA p.N1568fs*17 Deletion - Frameshift Breast COSM249133 DNMT3A c.2057A>G p.D686G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3523600 BAHCC1 c.6944C>T p.S2315F Substitution - Missense Skin COSM980849 MYST2 c.843G>T p.E281D Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1606208 KMT2D c.6944G>C p.G2315A Substitution - Missense Liver COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM611328 FMR1 c.198+5G>T p.? Unknown Adrenal_gland COSM3048327 SP140_ENST00000392045 c.865C>A p.Q289K Substitution - Missense Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1733616 ATF2 c.1477G>A p.V493I Substitution - Missense Pancreas COSM4387344 EZH1 c.2182A>G p.R728G Substitution - Missense Lung COSM270702 HDAC4 c.516G>C p.K172N Substitution - Missense Large_intestine COSM144492 DNMT3A c.2667_2668delGG p.G890fs*24 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM51432 ARID1A c.6472C>T p.R2158* Substitution - Nonsense Endometrium COSM5507146 ASH2L c.1043C>T p.P348L Substitution - Missense Biliary_tract COSM5461236 TCF20 c.5781G>A p.V1927V Substitution - coding silent Large_intestine COSM4885825 TDRD3 c.1118A>G p.D373G Substitution - Missense Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM162914 NIPBL c.5822G>C p.R1941T Substitution - Missense Breast COSM5014841 KIAA2026_ENST00000399933 c.1717A>G p.I573V Substitution - Missense Kidney COSM4563109 SRCAP c.9592G>A p.G3198R Substitution - Missense Skin COSM4678901 DNMT3A c.1164C>T p.H388H Substitution - coding silent Large_intestine COSM5691281 SMCHD1 c.1587C>G p.I529M Substitution - Missense Soft_tissue COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM158615 DNMT3A c.2168delT p.L723fs*56 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4943692 CHD8 c.5513A>G p.K1838R Substitution - Missense Liver COSM4963302 ADNP c.3160G>T p.D1054Y Substitution - Missense Pancreas COSM164776 TAF1 c.2062G>T p.G688* Substitution - Nonsense Breast COSM118652 EED c.33G>A p.A11A Substitution - coding silent Ovary COSM3361967 PRDM7 c.324C>A p.N108K Substitution - Missense Kidney COSM3396079 BAZ2A_ENST00000379441 c.4579C>T p.R1527W Substitution - Missense Prostate COSM3396079 BAZ2A_ENST00000379441 c.4579C>T p.R1527W Substitution - Missense Prostate COSM5495637 NCOA3 c.2916A>G p.R972R Substitution - coding silent Biliary_tract COSM3674600 ARID1B c.1982C>A p.P661Q Substitution - Missense Prostate COSM5019733 KMT2D c.9861A>G p.P3287P Substitution - coding silent Soft_tissue COSM3655144 GTF3C4 c.1016C>T p.P339L Substitution - Missense Skin COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Endometrium COSM1756349 MSL3 c.1118G>A p.R373Q Substitution - Missense Urinary_tract COSM4065906 PCGF2 c.147C>T p.T49T Substitution - coding silent Stomach COSM969954 SRCAP c.9362G>A p.R3121Q Substitution - Missense Endometrium COSM4015922 KAT6B c.4311C>A p.A1437A Substitution - coding silent Stomach COSM4472041 PHC2 c.1756C>T p.P586S Substitution - Missense Skin COSM2759359 PHF20 c.1950C>T p.F650F Substitution - coding silent Large_intestine COSM52996 EZH2 c.619C>T p.R207* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1211719 KDM2B c.788G>A p.C263Y Substitution - Missense Large_intestine COSM1181744 ACTR5 c.1166G>A p.S389N Substitution - Missense Large_intestine COSM4470638 EP400 c.1673C>T p.P558L Substitution - Missense Skin COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85911 IKZF1 c.161-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85911 IKZF1 c.161-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52980 EZH2 c.2069G>A p.R690H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52980 EZH2 c.2069G>A p.R690H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM75920 PHC3 c.1010A>C p.Q337P Substitution - Missense Ovary COSM96531 IDH1 c.209G>A p.G70D Substitution - Missense Thyroid COSM88746 CREBBP c.5035_5037delTCC p.S1680delS Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM122927 EZH2 c.1613C>T p.S538L Substitution - Missense Upper_aerodigestive_tract COSM133033 ASXL1 c.4189G>A p.G1397S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM138405 MECOM c.515C>T p.S172L Substitution - Missense Large_intestine COSM158738 DAXX c.1111C>T p.R371W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM217058 YY1 c.1225A>G p.K409E Substitution - Missense Liver COSM249132 DNMT3A c.2605G>A p.G869S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM237245 CREBBP c.1389G>A p.G463G Substitution - coding silent Prostate COSM255017 KDM6A c.1663C>T p.Q555* Substitution - Nonsense Urinary_tract COSM255099 MEN1 c.63_176del114 p.L22_P59del Deletion - In frame Parathyroid COSM317904 PRDM9 c.803C>A p.P268Q Substitution - Missense Lung COSM343273 TDRD5 c.70G>A p.D24N Substitution - Missense Skin COSM363032 PHC2 c.942T>A p.V314V Substitution - coding silent Lung COSM357400 BAZ1B c.1653G>T p.R551R Substitution - coding silent Lung COSM392201 AKAP1 c.1370_1375delACCACA p.H457_I459>L Complex - deletion inframe Lung COSM419540 EP300 c.49A>G p.K17E Substitution - Missense Urinary_tract COSM427389 BMI1 c.229G>C p.D77H Substitution - Missense Breast COSM438186 MBD1 c.455C>T p.T152M Substitution - Missense Breast COSM436344 SUZ12 c.1147G>A p.E383K Substitution - Missense Breast COSM448644 BRD8 c.3437+1G>A p.? Unknown Breast COSM455828 TAF1L c.2495G>A p.R832H Substitution - Missense Breast COSM459890 PRMT1 c.490G>A p.D164N Substitution - Missense Cervix COSM1600584 TRIM33 c.915A>G p.K305K Substitution - coding silent Liver COSM984760 JMJD6 c.386C>T p.P129L Substitution - Missense Endometrium COSM480531 ATXN7 c.2077C>A p.Q693K Substitution - Missense Kidney COSM682722 BRDT c.961A>G p.T321A Substitution - Missense Lung COSM1051859 PRMT10 c.720G>T p.E240D Substitution - Missense Endometrium COSM1027971 ADNP c.1594C>T p.R532W Substitution - Missense Stomach COSM703850 CTCF c.1654C>T p.P552S Substitution - Missense Skin COSM908611 ZMYM6 c.2821G>T p.E941* Substitution - Nonsense Endometrium COSM895019 PRDM2 c.3238G>A p.A1080T Substitution - Missense Endometrium COSM1056175 CLOCK c.55A>G p.S19G Substitution - Missense Endometrium COSM4032937 PHF21A c.1742G>A p.G581D Substitution - Missense Stomach COSM1125830 BRWD3 c.3718C>T p.R1240* Substitution - Nonsense Endometrium COSM1131121 GABRG1 c.363C>A p.D121E Substitution - Missense Prostate COSM1138157 HDAC6 c.1776T>A p.A592A Substitution - coding silent Kidney COSM1234964 MTA2 c.848A>G p.Y283C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1245610 ASXL3 c.2770G>T p.V924F Substitution - Missense Oesophagus COSM1215210 KMT2D c.3374C>T p.S1125L Substitution - Missense Large_intestine COSM1165173 PRMT1 c.987G>C p.L329L Substitution - coding silent Large_intestine COSM1297294 ERCC6 c.2060C>G p.S687W Substitution - Missense Urinary_tract COSM1328818 NIPBL c.7765C>T p.H2589Y Substitution - Missense Ovary COSM1319060 PHIP c.630G>T p.W210C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1390022 DNMT1 c.3237C>T p.G1079G Substitution - coding silent Large_intestine COSM1377538 SETD1A c.3576C>A p.P1192P Substitution - coding silent Large_intestine COSM1388417 AP001011.3_ENST00000320876 c.5788T>G p.L1930V Substitution - Missense Large_intestine COSM1387351 CHD3 c.1612delC p.R540fs*16 Deletion - Frameshift Large_intestine COSM1433175 PHF15 c.401_402insC p.S135fs*4 Insertion - Frameshift Large_intestine COSM1449428 KMT2C c.6840A>G p.G2280G Substitution - coding silent Large_intestine COSM1554706 TAF1L c.189G>A p.K63K Substitution - coding silent Large_intestine COSM1620269 NIPBL c.3929C>T p.A1310V Substitution - Missense Skin COSM1582670 PHF10 c.560G>A p.R187Q Substitution - Missense Stomach COSM1667479 SCMH1 c.166C>T p.R56W Substitution - Missense Large_intestine COSM1675284 JMJD1C c.5308T>C p.S1770P Substitution - Missense Skin COSM1673338 TRRAP c.8980C>T p.H2994Y Substitution - Missense Large_intestine COSM1743791 KMT2A c.4662A>T p.S1554S Substitution - coding silent Biliary_tract COSM42037 TET2 c.4210C>T p.R1404* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1741220 IDH1 c.315C>T p.G105G Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1733498 NCOR1 c.3890T>C p.M1297T Substitution - Missense Pancreas COSM2270834 MGA c.4267C>T p.P1423S Substitution - Missense Skin COSM2909186 HDAC4 c.128C>T p.A43V Substitution - Missense Large_intestine COSM3096255 HDAC8 c.258C>T p.G86G Substitution - coding silent Stomach COSM3090565 PSIP1 c.486A>C p.A162A Substitution - coding silent Large_intestine COSM3144212 UTY c.3922T>C p.C1308R Substitution - Missense Large_intestine COSM3368125 KAT6B c.2995G>C p.E999Q Substitution - Missense Thyroid COSM3440091 SFMBT2 c.1966C>T p.H656Y Substitution - Missense Skin COSM3457085 HNF1A c.119G>A p.G40E Substitution - Missense Skin COSM3636982 HDAC9 c.508C>T p.H170Y Substitution - Missense Skin COSM3619211 PRDM1 c.2239G>A p.G747R Substitution - Missense Skin COSM3634194 JHDM1D c.2156C>T p.P719L Substitution - Missense Skin COSM3626169 BRPF3 c.2280C>T p.S760S Substitution - coding silent Skin COSM3567453 MBD5 c.2772C>T p.I924I Substitution - coding silent Skin COSM3514570 NCOR1 c.196C>T p.R66* Substitution - Nonsense Large_intestine COSM3523709 SIRT7 c.75G>A p.Q25Q Substitution - coding silent Skin COSM3650739 EYA1 c.402C>T p.Y134Y Substitution - coding silent Skin COSM3672680 CXXC1 c.1890G>T p.A630A Substitution - coding silent Prostate COSM3813508 MPHOSPH8 c.559G>T p.E187* Substitution - Nonsense Breast COSM3793169 MPHOSPH8 c.980G>C p.R327T Substitution - Missense Urinary_tract COSM3850176 PHF15 c.1441A>C p.N481H Substitution - Missense Stomach COSM3937723 ASXL3 c.1300G>T p.E434* Substitution - Nonsense Oesophagus COSM3837121 BAZ2B c.6001G>A p.E2001K Substitution - Missense Breast COSM3826772 PHF15 c.569A>G p.E190G Substitution - Missense Breast COSM3824904 INTS12 c.1168C>T p.P390S Substitution - Missense Breast COSM3907055 KIAA1045 c.1142T>A p.V381D Substitution - Missense Stomach COSM4023051 ASH1L c.4546C>T p.R1516C Substitution - Missense Stomach COSM3986785 ATF7IP c.626C>G p.P209R Substitution - Missense Kidney COSM4092279 SP100 c.1040C>T p.A347V Substitution - Missense Stomach COSM4106100 MSL3 c.337T>A p.L113I Substitution - Missense Stomach COSM4063042 CDYL2 c.741T>C p.C247C Substitution - coding silent Stomach COSM4129608 NCOR1 c.571G>A p.E191K Substitution - Missense Thyroid COSM4140864 ASH1L c.981T>C p.T327T Substitution - coding silent Kidney COSM4161255 TDRD6 c.599T>G p.V200G Substitution - Missense Upper_aerodigestive_tract COSM4170435 KMT2D c.5854C>T p.Q1952* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4440968 KDM1B c.926G>A p.G309E Substitution - Missense Large_intestine COSM4496809 ARID2 c.4831C>T p.Q1611* Substitution - Nonsense Biliary_tract COSM4435768 MSH6 c.3997T>C p.F1333L Substitution - Missense Oesophagus COSM4565480 INOC1 c.2141_2142CC>TT p.S714F Substitution - Missense Skin COSM4590278 KDM2A c.310A>G p.S104G Substitution - Missense Upper_aerodigestive_tract COSM4494323 SETD1B c.951C>T p.P317P Substitution - coding silent Skin COSM4410866 KDM2B c.2805delT p.H936fs*4 Deletion - Frameshift Kidney COSM4717494 PRDM2 c.190delA p.R66fs*37 Deletion - Frameshift Large_intestine COSM4713971 PHF2 c.1106C>T p.A369V Substitution - Missense Large_intestine COSM4702420 KMT2D c.12023G>T p.G4008V Substitution - Missense Large_intestine COSM4624813 MSH6 c.1406A>T p.Y469F Substitution - Missense Large_intestine COSM4611184 TCF19 c.66delC p.A25fs*72 Deletion - Frameshift Large_intestine COSM4615076 TAF1 c.1930delA p.K646fs*4 Deletion - Frameshift Large_intestine COSM4773263 SMCHD1 c.4052G>T p.G1351V Substitution - Missense Stomach COSM4751603 ARID1A c.4277A>T p.D1426V Substitution - Missense Stomach COSM4829536 DOT1L c.2545-2A>G p.? Unknown Cervix COSM4877941 PHRF1 c.2554G>A p.G852S Substitution - Missense Large_intestine COSM4826566 KMT2D c.9928C>T p.Q3310* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4957603 PRDM16 c.3572C>T p.T1191I Substitution - Missense Liver COSM4976897 PCGF2 c.397C>G p.L133V Substitution - Missense Oesophagus COSM4978984 MEN1 c.723T>C p.C241C Substitution - coding silent Oesophagus COSM4978028 DMAP1 c.1180C>T p.R394C Substitution - Missense Oesophagus COSM4980509 ZCWPW1 c.825C>T p.D275D Substitution - coding silent Oesophagus COSM5005489 CHD1 c.3978G>A p.A1326A Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4970847 ATRX c.5371G>C p.D1791H Substitution - Missense Central_nervous_system COSM5024432 PHF20 c.429G>A p.V143V Substitution - coding silent Bone COSM5078787 MEN1 c.320C>G p.P107R Substitution - Missense Large_intestine COSM5088514 GTF3C1 c.5541delC p.E1848fs*33 Deletion - Frameshift Breast COSM5396059 IDH1 c.243G>A p.K81K Substitution - coding silent Skin COSM5361532 ATF7IP c.3645G>T p.K1215N Substitution - Missense Large_intestine COSM5363131 CHD2 c.3914C>A p.P1305H Substitution - Missense Large_intestine COSM5357635 HDGFL1 c.163C>T p.R55C Substitution - Missense Large_intestine COSM5490618 ARID1A c.2387A>G p.Y796C Substitution - Missense Biliary_tract COSM5486949 GABRG1 c.3G>A p.M1I Substitution - Missense Large_intestine COSM5462531 SETD1A c.4508G>A p.S1503N Substitution - Missense Large_intestine COSM5461032 TCF20 c.2599A>G p.I867V Substitution - Missense Large_intestine COSM5612596 ERCC6 c.422+1G>A p.? Unknown Adrenal_gland COSM5652246 KDM5C c.2585A>T p.N862I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5771207 SUV420H1 c.1696A>T p.S566C Substitution - Missense Breast COSM5739199 PRMT3 c.1149G>A p.W383* Substitution - Nonsense Small_intestine COSM144619 KMT2D c.9559_9560delCT p.L3187fs*10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5742747 TRIM33 c.1924C>A p.P642T Substitution - Missense Small_intestine COSM5586781 TET2 c.1754C>T p.S585L Substitution - Missense Skin COSM5599299 CHD9 c.5461G>A p.E1821K Substitution - Missense Skin COSM5603867 KDM3B c.339C>T p.S113S Substitution - coding silent Skin COSM5564087 KAT6B c.3173G>T p.R1058L Substitution - Missense Prostate COSM5555884 ACTL6A c.193G>A p.G65S Substitution - Missense Prostate COSM5811635 ARID2 c.5343A>G p.K1781K Substitution - coding silent Liver COSM5803341 MYST3 c.5115T>C p.C1705C Substitution - coding silent Liver COSM5945036 TET2 c.2872C>T p.Q958* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5945071 TET2 c.5615T>G p.L1872R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5904386 PRMT8 c.713-6C>T p.? Unknown Skin COSM5914070 DOT1L c.4349C>T p.S1450F Substitution - Missense Skin COSM5936041 ZMYM5 c.824C>T p.S275F Substitution - Missense Skin COSM5899709 BAHCC1 c.5813C>T p.P1938L Substitution - Missense Skin COSM5953565 EZH2 c.145A>G p.I49V Substitution - Missense Oesophagus COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM132980 ASXL1 c.? p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41708 TET2 c.4570C>T p.Q1524* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4122507 SMARCA5 c.3034A>C p.N1012H Substitution - Missense Stomach COSM1111299 PHF2 c.1977C>T p.F659F Substitution - coding silent Endometrium COSM4788319 GABRG1 c.302C>A p.P101Q Substitution - Missense Liver COSM1730923 SHPRH c.2456A>G p.D819G Substitution - Missense Liver COSM5031167 KMT2D c.? p.P3389L Substitution - Missense Thymus COSM1639493 SETDB1 c.1315A>G p.T439A Substitution - Missense Stomach COSM4729948 SRCAP c.8503G>A p.V2835M Substitution - Missense Large_intestine COSM4395307 NCOA5 c.186C>T p.D62D Substitution - coding silent Skin COSM4023059 ASH1L c.3149G>A p.R1050K Substitution - Missense Stomach COSM3699306 TDRD7 c.1951G>A p.A651T Substitution - Missense Large_intestine COSM4963222 RNF17 c.612-5T>G p.? Unknown Pancreas COSM5723289 SCML2 c.607C>T p.H203Y Substitution - Missense Skin COSM1184471 BAZ1A c.4532G>A p.R1511H Substitution - Missense Large_intestine COSM5649079 TDRD5 c.2928G>A p.V976V Substitution - coding silent Oesophagus COSM5801813 JMJD1C c.1674_1675insT p.N559fs*1 Insertion - Frameshift Breast COSM5450028 PRDM8 c.426C>A p.P142P Substitution - coding silent Large_intestine COSM5438925 BPTF c.1317G>A p.V439V Substitution - coding silent Oesophagus COSM2740205 RAI1 c.2107A>G p.T703A Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Soft_tissue COSM5025577 DNMT3A c.1336G>C p.A446P Substitution - Missense Breast COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Skin COSM166413 TET2 c.? p.P1681fs*2 Frameshift Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM1321019 RAD54L c.805C>T p.P269S Substitution - Missense Ovary COSM6009256 KDM4A c.2336C>T p.S779L Substitution - Missense Skin COSM1018323 TET2 c.4594C>T p.Q1532* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1179107 KMT2C c.851G>A p.R284Q Substitution - Missense Central_nervous_system COSM1180387 CBX7 c.673A>G p.I225V Substitution - Missense Prostate COSM5711549 HCFC1 c.3665A>C p.N1222T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM251411 ARID2 c.5174C>G p.S1725* Substitution - Nonsense Liver COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2687839 NIPBL c.2650G>T p.G884W Substitution - Missense Lung COSM4260243 CREBBP c.4471C>G p.Q1491E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4150931 MGA c.308G>C p.R103P Substitution - Missense Kidney COSM41294 IDH1 c.? p.R132C Substitution - Missense Biliary_tract COSM4383632 IDH1 c.791G>A p.G264D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Biliary_tract COSM51443 ARID1A c.286_296del11 p.A96fs*11 Deletion - Frameshift Ovary COSM4968406 TRIM66 c.3478G>T p.D1160Y Substitution - Missense Adrenal_gland COSM307321 ARID1A c.1896_1899delTCAG p.S634fs*12 Deletion - Frameshift Liver COSM4953545 BRWD3 c.910T>G p.F304V Substitution - Missense Liver COSM5753947 KMT2D c.14267C>T p.P4756L Substitution - Missense Eye COSM1056176 CLOCK c.35C>T p.S12L Substitution - Missense Endometrium COSM3510239 CHD9 c.8186G>A p.G2729E Substitution - Missense Skin COSM1193668 ATAD2 c.1816G>C p.E606Q Substitution - Missense Lung COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3738483 TET2 c.? p.H1386fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM3986963 KMT2D c.15531T>G p.N5177K Substitution - Missense Kidney COSM5924159 ATRX c.5179G>A p.E1727K Substitution - Missense Skin COSM250048 ATRX c.1660_1661delCA p.Q554fs*21 Deletion - Frameshift Central_nervous_system COSM362303 SETD7 c.250G>T p.G84C Substitution - Missense Lung COSM907698 ARID1A c.2248C>T p.R750* Substitution - Nonsense Stomach COSM1017633 SP100 c.236G>A p.R79H Substitution - Missense Endometrium COSM4169778 ASXL1 c.2144_2145insA p.A716fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM167143 RNF2 c.77G>A p.R26Q Substitution - Missense Large_intestine COSM3976198 ASH1L c.1790A>T p.E597V Substitution - Missense Lung COSM1054414 WHSC1 c.80T>A p.I27N Substitution - Missense Endometrium COSM273192 RNF17 c.697delA p.N235fs*3 Deletion - Frameshift Large_intestine COSM987905 ASXL3 c.827C>T p.T276I Substitution - Missense Endometrium COSM4714015 PHF7 c.170T>C p.V57A Substitution - Missense Large_intestine COSM3615229 PRDM9 c.2601G>T p.R867R Substitution - coding silent Skin COSM5885483 KAT2B c.2298C>T p.F766F Substitution - coding silent Urinary_tract COSM1235204 DPF2 c.884G>C p.C295S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5664952 SRCAP c.4849G>T p.G1617C Substitution - Missense Soft_tissue COSM4992382 PRDM1 c.685G>A p.D229N Substitution - Missense Skin COSM3758573 CHD6 c.6483C>G p.H2161Q Substitution - Missense Large_intestine COSM1193382 TDRD7 c.1888A>G p.I630V Substitution - Missense Lung COSM3718823 ZMYM2 c.3971delT p.Y1326fs*35 Deletion - Frameshift Upper_aerodigestive_tract COSM328347 BAHD1 c.1047A>C p.T349T Substitution - coding silent Pancreas COSM261645 KIAA2026_ENST00000399933 c.5643T>C p.S1881S Substitution - coding silent Large_intestine COSM947883 PHF11 c.361G>T p.G121* Substitution - Nonsense Endometrium COSM4589050 PHF2 c.1107G>A p.A369A Substitution - coding silent Bone COSM1704634 KMT2A c.5563C>T p.R1855* Substitution - Nonsense Skin COSM97178 PRDM1 c.175_176insCACCAACA p.S59fs*10 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1317671 TDRD10 c.578G>A p.R193H Substitution - Missense Large_intestine COSM939271 KDM5A c.2345G>A p.R782Q Substitution - Missense Endometrium COSM4644634 KDM3B c.946G>T p.G316* Substitution - Nonsense Large_intestine COSM3660001 KDM3A c.3383A>C p.N1128T Substitution - Missense Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4968239 BRD7 c.1419C>T p.S473S Substitution - coding silent Adrenal_gland COSM162834 NCOA1 c.907C>G p.Q303E Substitution - Missense Breast COSM205449 ZBTB38 c.1532C>T p.T511M Substitution - Missense Autonomic_ganglia COSM2762682 ADNP c.2826T>C p.T942T Substitution - coding silent Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM121974 SUV420H1 c.489A>G p.A163A Substitution - coding silent Upper_aerodigestive_tract COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3551323 DNMT3L c.823G>A p.G275S Substitution - Missense Skin COSM4767405 MEN1 c.?_?del? p.P493fs*? Deletion - Frameshift Thyroid COSM53160 TET2 c.? p.C1273F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3624842 EHMT2 c.1575T>A p.S525S Substitution - coding silent Skin COSM5985235 NSD1 c.7352G>A p.R2451K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3731844 ATF7IP c.3229C>T p.R1077* Substitution - Nonsense Stomach COSM256415 BRD1 c.100G>A p.A34T Substitution - Missense Large_intestine COSM5913122 TAF3 c.1301C>T p.P434L Substitution - Missense Skin COSM1582063 ERCC6 c.1408A>G p.K470E Substitution - Missense Stomach COSM3153139 EP300 c.3602G>A p.C1201Y Substitution - Missense Upper_aerodigestive_tract COSM457735 SMC1A c.884G>A p.R295Q Substitution - Missense Breast COSM5710159 TDRD6 c.4392T>G p.D1464E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28803 KDM6A c.1-?_225+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM301064 SFMBT2 c.129C>A p.G43G Substitution - coding silent Large_intestine COSM3394690 STK31 c.231G>T p.G77G Substitution - coding silent Pancreas COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1341426 ARID1A c.5542delG p.D1850fs*33 Deletion - Frameshift Large_intestine COSM4134435 ASXL1 c.3759T>C p.S1253S Substitution - coding silent Soft_tissue COSM5996461 KDM1B c.1091C>A p.S364Y Substitution - Missense Prostate COSM5920466 KMT2D c.12328C>T p.P4110S Substitution - Missense Skin COSM51200 ASXL1 c.1888_1910del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5945400 ASXL1 c.1282C>T p.Q428* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1066193 NSD1 c.812T>C p.L271S Substitution - Missense Endometrium COSM4528684 CTCF c.1556G>A p.G519E Substitution - Missense Liver COSM937160 EP400 c.3961G>A p.V1321I Substitution - Missense Endometrium COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5036350 EZH2 c.2016C>A p.F672L Substitution - Missense Oesophagus COSM3489652 SCMH1 c.31T>C p.F11L Substitution - Missense Skin COSM991718 MUM1 c.161G>T p.S54I Substitution - Missense Endometrium COSM4672092 CHD7 c.8355C>T p.A2785A Substitution - coding silent Large_intestine COSM2270963 TET2 c.3852_3854delCTT p.F1285del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM1184955 BRPF3 c.2287G>A p.A763T Substitution - Missense Large_intestine COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52885 PBRM1 c.2212_2217delTACAAT p.Y738_N739delYN Deletion - In frame Kidney COSM4853487 TDRD3 c.196G>A p.E66K Substitution - Missense Cervix COSM1034595 L3MBTL2 c.1985C>T p.S662L Substitution - Missense Endometrium COSM1750538 MBD1 c.1124G>A p.R375H Substitution - Missense Urinary_tract COSM3582348 SMEK2 c.471C>T p.I157I Substitution - coding silent Skin COSM3415212 SFMBT2 c.1940A>G p.E647G Substitution - Missense Large_intestine COSM680973 ZMYM6 c.448G>C p.D150H Substitution - Missense Lung COSM1723965 EP400 c.554C>T p.S185F Substitution - Missense Skin COSM1719632 NCOA2 c.1506C>T p.I502I Substitution - coding silent Skin COSM3108199 UHRF1 c.840C>T p.N280N Substitution - coding silent Oesophagus COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM273490 ZCWPW2 c.801A>C p.E267D Substitution - Missense Large_intestine COSM939506 ARID2 c.2969C>T p.S990L Substitution - Missense Biliary_tract COSM3858838 SHPRH c.4100G>C p.R1367T Substitution - Missense Stomach COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM42016 TET2 c.4393C>T p.R1465* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4164742 ZMYND8 c.1512A>G p.A504A Substitution - coding silent Kidney COSM1296336 ZMYM1 c.857C>T p.S286L Substitution - Missense Urinary_tract COSM4603233 DIDO1 c.4878_4879insC p.A1627fs*53 Insertion - Frameshift Upper_aerodigestive_tract COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1493542 CHD2 c.1199-1G>A p.? Unknown Kidney COSM13881 MBD4 c.1418T>G p.M473R Substitution - Missense Lung COSM921721 HELLS c.2289G>T p.K763N Substitution - Missense Endometrium COSM5923756 TDRD6 c.1328C>T p.A443V Substitution - Missense Skin COSM263772 SMCHD1 c.20T>G p.F7C Substitution - Missense Large_intestine COSM1693774 MECOM c.2207G>A p.R736K Substitution - Missense Skin COSM1716575 BAP1 c.1730-?_1890+?del p.? Unknown Pleura COSM215895 ACTL6A c.491G>A p.R164H Substitution - Missense Central_nervous_system COSM1209375 HDAC2 c.453C>A p.F151L Substitution - Missense Large_intestine COSM1125883 BRWD3 c.919C>T p.R307C Substitution - Missense Endometrium COSM4655877 ZBTB38 c.2032A>C p.T678P Substitution - Missense Large_intestine COSM1621136 ARID1B c.3348A>G p.S1116S Substitution - coding silent Liver COSM3874524 TDRD6 c.2473G>C p.A825P Substitution - Missense Stomach COSM5183505 PCNA c.208G>A p.V70M Substitution - Missense Large_intestine COSM4098457 CHD6 c.3164A>C p.K1055T Substitution - Missense Stomach COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2160409 SFMBT2 c.2111G>A p.R704Q Substitution - Missense Stomach COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Biliary_tract COSM955454 BAZ1A c.4438C>T p.R1480C Substitution - Missense Large_intestine COSM4765469 TDRD10 c.322_323insC p.K110fs*5 Insertion - Frameshift Stomach COSM3751836 ERCC6 c.3637A>G p.R1213G Substitution - Missense Soft_tissue COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5609778 PBRM1 c.3649C>T p.L1217L Substitution - coding silent Skin COSM281583 GTF3C1 c.2191C>T p.P731S Substitution - Missense Large_intestine COSM2697272 CBX1 c.354G>A p.E118E Substitution - coding silent Large_intestine COSM2252223 UBR7 c.292C>T p.R98C Substitution - Missense Skin COSM3756106 AP001011.3_ENST00000320876 c.174G>C p.A58A Substitution - coding silent Large_intestine COSM335727 KMT2C c.1163G>A p.C388Y Substitution - Missense Lung COSM5734958 EZH1 c.2117A>T p.D706V Substitution - Missense Pancreas COSM4552174 MGA c.5662G>A p.G1888R Substitution - Missense Skin COSM3848329 TAF1L c.3764G>A p.R1255Q Substitution - Missense Breast COSM1234985 RBBP4 c.988G>A p.E330K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1351619 KMT2A c.3948delA p.E1318fs*38 Deletion - Frameshift Large_intestine COSM1169607 TET2 c.? p.Q866* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5479137 CHD9 c.2802C>T p.N934N Substitution - coding silent Large_intestine COSM1223543 RERE c.3218C>T p.A1073V Substitution - Missense Liver COSM4169563 MSH6 c.? p.T521I Substitution - Missense Central_nervous_system COSM1090914 ACTB c.416T>C p.V139A Substitution - Missense Endometrium COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Central_nervous_system COSM5364882 SMARCA4 c.3798C>T p.S1266S Substitution - coding silent Large_intestine COSM1942670 SETDB2 c.2145delA p.I718fs*>2 Deletion - Frameshift Stomach COSM1360187 EP400 c.8184G>A p.Q2728Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1738286 HDAC9 c.1757G>A p.R586H Substitution - Missense Ovary COSM3669911 CHD7 c.3206G>C p.R1069P Substitution - Missense Liver COSM4420879 ARID2 c.5459T>G p.F1820C Substitution - Missense Prostate COSM43470 TET2 c.?del? p.T1554fs Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1255502 KDM6A c.3598C>T p.L1200F Substitution - Missense Oesophagus COSM4492939 GATAD2B c.406C>T p.P136S Substitution - Missense Skin COSM4115102 MECOM c.3116C>T p.A1039V Substitution - Missense Stomach COSM1081866 PHIP c.1851C>A p.L617L Substitution - coding silent Endometrium COSM1447018 MLL5 c.3832G>C p.D1278H Substitution - Missense Large_intestine COSM5055777 ZBTB4 c.1272G>A p.K424K Substitution - coding silent Stomach COSM5945963 BAP1 c.1939G>C p.E647Q Substitution - Missense Eye COSM5018500 STK31 c.2070G>A p.E690E Substitution - coding silent Soft_tissue COSM1067705 NIPBL c.5963C>A p.S1988Y Substitution - Missense Endometrium COSM5005263 BRWD3 c.3719G>C p.R1240P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1312982 STK31 c.1300G>A p.G434R Substitution - Missense Urinary_tract COSM4610839 PRDM2 c.852delT p.D284fs*22 Deletion - Frameshift Large_intestine COSM5931693 NSD1 c.4258C>T p.P1420S Substitution - Missense Skin COSM3817652 GTF3C1 c.4905G>A p.V1635V Substitution - coding silent Breast COSM1364680 AICDA c.394G>A p.A132T Substitution - Missense Large_intestine COSM1618861 GABRG1 c.650A>G p.E217G Substitution - Missense Liver COSM720761 DNMT3A c.2375G>A p.R792H Substitution - Missense Lung COSM5921506 MUM1 c.419C>T p.P140L Substitution - Missense Skin COSM5944520 TET2 c.5028_5029insCCAA p.T1677fs*11 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1251229 EP300 c.1636G>A p.E546K Substitution - Missense Stomach COSM3842768 L3MBTL2 c.600+1G>A p.? Unknown Breast COSM290880 HNF1A c.396_397GG>AA p.V133M Substitution - Missense Large_intestine COSM5985368 INOC1 c.4073G>A p.S1358N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144616 KMT2D c.935_936insCACTC p.H313fs*23 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM213344 TAF1 c.4186A>G p.M1396V Substitution - Missense Breast COSM2719991 CHD7 c.1167T>G p.T389T Substitution - coding silent Stomach COSM5821206 NCOA6 c.2070A>T p.Q690H Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1123037 SMC1A c.1216C>T p.R406C Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM187703 MGA c.7450C>T p.R2484W Substitution - Missense Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1061317 KDM3B c.1399C>A p.L467M Substitution - Missense Endometrium COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3488187 RBBP4 c.1202T>C p.V401A Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5016672 PRDM15 c.2501delT p.F834fs*49 Deletion - Frameshift Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1265350 SETD7 c.1044A>C p.E348D Substitution - Missense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4440537 SMARCA4 c.1864G>A p.V622M Substitution - Missense Thyroid COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4008301 KDM4A c.2821C>T p.L941F Substitution - Missense Stomach COSM5737047 TET2 c.680_681insA p.T229fs*25 Insertion - Frameshift Small_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM703025 CREBBP c.1847C>G p.P616R Substitution - Missense Lung COSM2949875 MINA c.1019delC p.P340fs*23 Deletion - Frameshift Large_intestine COSM5550665 PRMT7 c.253G>A p.A85T Substitution - Missense Prostate COSM100057 TET2 c.2768_2769insCATA p.H924fs*10 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4539504 MSH6 c.2695G>A p.E899K Substitution - Missense Skin COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1087505 KMT2C c.14210C>A p.S4737* Substitution - Nonsense Endometrium COSM4305938 HAT1 c.1073G>A p.R358K Substitution - Missense Upper_aerodigestive_tract COSM4749743 SETD5_ENST00000402198 c.332G>T p.G111V Substitution - Missense Stomach COSM1362018 KMT2D c.7557-1G>T p.? Unknown Large_intestine COSM41731 TET2 c.4_4delG p.E2fs*13 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM87118 TET2 c.3448_3448delC p.H1150fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3888409 SRCAP c.2206C>T p.R736C Substitution - Missense Skin COSM146125 ZMYM3 c.2542G>A p.V848M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM257519 NIPBL c.1880A>C p.E627A Substitution - Missense Large_intestine COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM30369 SETD2 c.2965C>T p.R989* Substitution - Nonsense Breast COSM1002 SMARCB1 c.118C>T p.R40* Substitution - Nonsense Soft_tissue COSM23054 MEN1 c.512G>A p.R171Q Substitution - Missense Soft_tissue COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43420 TET2 c.4546C>T p.R1516* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM53021 EZH2 c.2191T>G p.Y731D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85828 ATRX c.5270_5272+1delAGTG p.? Unknown Pancreas COSM71633 MGA c.7451G>A p.R2484Q Substitution - Missense Central_nervous_system COSM72856 SUV39H2 c.313C>G p.P105A Substitution - Missense Ovary COSM96511 EP300 c.3040G>T p.E1014* Substitution - Nonsense Large_intestine COSM98030 MECOM c.3130G>T p.A1044S Substitution - Missense Upper_aerodigestive_tract COSM97036 ASXL1 c.2429_2429delA p.D810fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM136383 MECOM c.1916C>T p.P639L Substitution - Missense Skin COSM140713 TDRD3 c.1122A>C p.R374S Substitution - Missense Skin COSM165197 TRRAP c.7201G>C p.D2401H Substitution - Missense Breast COSM166411 CREBBP c.3836+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM172071 PRMT8 c.420C>T p.I140I Substitution - coding silent Lung COSM169545 TRDMT1 c.1112G>A p.R371H Substitution - Missense Stomach COSM184236 ARID1A c.2077C>T p.R693* Substitution - Nonsense Ovary COSM223182 TRRAP c.4432G>A p.V1478M Substitution - Missense Skin COSM242569 KMT2A c.4219G>T p.E1407* Substitution - Nonsense Prostate COSM241570 SETD1A c.2456C>G p.A819G Substitution - Missense Prostate COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Prostate COSM231555 DNMT3A c.1598A>G p.Y533C Substitution - Missense Lung COSM251352 ARID1A c.315_334del20 p.N106fs*4 Deletion - Frameshift Liver COSM334090 SETBP1 c.3066T>G p.P1022P Substitution - coding silent Lung COSM396851 RAG2 c.1415G>A p.G472E Substitution - Missense Lung COSM446968 ATXN7 c.599C>T p.A200V Substitution - Missense Breast COSM472346 NCOR1 c.3794T>C p.V1265A Substitution - Missense Kidney COSM480297 BAP1 c.3G>A p.M1I Substitution - Missense Kidney COSM480356 PBRM1 c.2536G>T p.E846* Substitution - Nonsense Kidney COSM693664 KMT2D c.3335G>T p.S1112I Substitution - Missense Lung COSM693690 KMT2D c.6367G>T p.E2123* Substitution - Nonsense Lung COSM1023490 KDM3A c.561C>A p.D187E Substitution - Missense Upper_aerodigestive_tract COSM919525 JMJD1C c.151G>A p.V51I Substitution - Missense Endometrium COSM707550 BPTF c.1090C>T p.L364L Substitution - coding silent Lung COSM700635 MGA c.7464G>C p.M2488I Substitution - Missense Lung COSM709406 MBD1 c.908C>T p.P303L Substitution - Missense Lung COSM710262 DNMT1 c.2507A>T p.Y836F Substitution - Missense Lung COSM925965 SIRT3 c.1034G>A p.R345Q Substitution - Missense Prostate COSM895917 TDRKH c.282C>T p.G94G Substitution - coding silent Endometrium COSM961359 INOC1 c.2087A>G p.H696R Substitution - Missense Endometrium COSM961500 MGA c.2211G>T p.V737V Substitution - coding silent Endometrium COSM961535 MGA c.7479G>T p.E2493D Substitution - Missense Endometrium COSM1040973 MECOM c.537G>A p.K179K Substitution - coding silent Endometrium COSM1600364 BAZ1A c.1558_1565delCTGTCTGC p.L520fs*23 Deletion - Frameshift Central_nervous_system COSM1088163 HDAC9 c.1225C>T p.R409* Substitution - Nonsense Liver COSM1100794 CHD7 c.2545G>T p.D849Y Substitution - Missense Endometrium COSM1080948 PHF3 c.1178G>T p.R393I Substitution - Missense Endometrium COSM1209382 HDAC4 c.2191C>T p.Q731* Substitution - Nonsense Large_intestine COSM1183763 ASH1L c.4547G>A p.R1516H Substitution - Missense Large_intestine COSM1225344 SETD1A c.4337C>T p.T1446M Substitution - Missense Large_intestine COSM1161640 PHIP c.609T>G p.D203E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1161911 KDM5C c.4219delG p.D1407fs*5 Deletion - Frameshift Kidney COSM1171707 JMJD1C c.6329T>G p.V2110G Substitution - Missense Oesophagus COSM1289714 EP400 c.8181_8182insCAG p.Q2748_T2749insQ Insertion - In frame Large_intestine COSM1306523 SP140_ENST00000392045 c.709G>T p.E237* Substitution - Nonsense Urinary_tract COSM1331525 KIAA2026_ENST00000399933 c.3229G>C p.D1077H Substitution - Missense Ovary COSM1388734 SETBP1 c.4399G>A p.D1467N Substitution - Missense Large_intestine COSM1387351 CHD3 c.1612delC p.R540fs*16 Deletion - Frameshift Large_intestine COSM1453162 TRRAP c.3870delC p.P1292fs*17 Deletion - Frameshift Large_intestine COSM1361287 PRMT8 c.1059A>C p.E353D Substitution - Missense Large_intestine COSM1568038 SHPRH c.13C>T p.R5W Substitution - Missense Large_intestine COSM1488009 ZCWPW1 c.759T>G p.C253W Substitution - Missense Breast COSM1615456 DNMT3B c.1641G>A p.Q547Q Substitution - coding silent Liver COSM1626138 ATRX c.3990A>G p.E1330E Substitution - coding silent Liver COSM1623570 ATAD2 c.3478+8C>T p.? Unknown Liver COSM1637489 SMARCA2 c.3556G>A p.A1186T Substitution - Missense Bone COSM1687261 ARID1A c.1852A>C p.M618L Substitution - Missense Skin COSM1669320 BAZ2B c.390T>G p.F130L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1721292 MTA1 c.1637_1638insC p.K549fs*3 Insertion - Frameshift Large_intestine COSM1663474 PHF20 c.2291G>C p.S764T Substitution - Missense Kidney COSM1743593 MYST3 c.2358C>T p.V786V Substitution - coding silent Biliary_tract COSM1732069 PBRM1 c.2646_2647delTG p.N882fs*18 Deletion - Frameshift Kidney COSM42037 TET2 c.4210C>T p.R1404* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1741220 IDH1 c.315C>T p.G105G Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM2023482 PWWP2B c.1189G>A p.G397S Substitution - Missense Large_intestine COSM2066717 KDM5A c.2511G>A p.P837P Substitution - coding silent Large_intestine COSM2157142 PHF12 c.1444A>G p.T482A Substitution - Missense Central_nervous_system COSM2725355 SMARCA1 c.2618A>T p.E873V Substitution - Missense Large_intestine COSM2813366 CARM1 c.1408delA p.N471fs*50 Deletion - Frameshift Large_intestine COSM3296139 MBD5 c.1574T>A p.L525* Substitution - Nonsense Large_intestine COSM3347147 EHMT2 c.2563delC p.L855fs*36 Deletion - Frameshift Large_intestine COSM3413974 EZH2 c.2000T>C p.M667T Substitution - Missense Stomach COSM3508911 SRCAP c.5989C>T p.P1997S Substitution - Missense Skin COSM3465559 APOBEC1 c.126C>T p.I42I Substitution - coding silent Skin COSM3447094 RAG2 c.601C>T p.Q201* Substitution - Nonsense Skin COSM3925534 PRDM14 c.475C>T p.L159L Substitution - coding silent Skin COSM4016604 BTAF1 c.3192T>A p.N1064K Substitution - Missense Stomach COSM4015120 JMJD1C c.2823A>G p.V941V Substitution - coding silent Stomach COSM4039758 SETD8 c.273C>T p.I91I Substitution - coding silent Stomach COSM3990185 KDM4B c.916C>A p.Q306K Substitution - Missense Kidney COSM3985592 EPC1 c.2127T>C p.H709H Substitution - coding silent Skin COSM4069936 JMJD6 c.370A>G p.T124A Substitution - Missense Stomach COSM4076477 LMNB2 c.1414T>C p.S472P Substitution - Missense Stomach COSM4070289 KDM6B c.3580C>T p.R1194W Substitution - Missense Stomach COSM4074682 MUM1 c.1202T>C p.V401A Substitution - Missense Stomach COSM4143737 ARID1A c.1987A>T p.T663S Substitution - Missense Thyroid COSM4142605 SETDB1 c.3196T>C p.S1066P Substitution - Missense Thyroid COSM4162014 KMT2C c.2534G>A p.G845E Substitution - Missense Liver COSM4167417 PHC2 c.2260T>G p.S754A Substitution - Missense Central_nervous_system COSM4603241 KDM6B c.761_762insACCACC p.P264_L265insPP Insertion - In frame Upper_aerodigestive_tract COSM4545176 TDRD5 c.371G>A p.R124Q Substitution - Missense Skin COSM4544451 TRIM66 c.3579G>A p.R1193R Substitution - coding silent Skin COSM4437523 KAT6B c.1547C>G p.S516C Substitution - Missense Oesophagus COSM4528567 ZMYM2 c.1547G>A p.R516Q Substitution - Missense Skin COSM4544941 RBBP7 c.234G>C p.L78L Substitution - coding silent Skin COSM4506915 CHD9 c.7385C>T p.S2462F Substitution - Missense Skin COSM4448490 UHRF1 c.1230G>A p.W410* Substitution - Nonsense Skin COSM4460894 BAG6 c.1165C>T p.P389S Substitution - Missense Skin COSM4675723 CXXC1 c.1824+2T>C p.? Unknown Large_intestine COSM4666122 BRD7 c.856G>A p.A286T Substitution - Missense Large_intestine COSM4672084 CHD7 c.2627delT p.F877fs*11 Deletion - Frameshift Large_intestine COSM4682123 EYA1 c.837A>G p.T279T Substitution - coding silent Large_intestine COSM4665218 BAZ2A_ENST00000379441 c.5317G>A p.A1773T Substitution - Missense Large_intestine COSM4698230 LMNA c.1820T>C p.V607A Substitution - Missense Large_intestine COSM4776606 NCOA1 c.3959C>G p.S1320C Substitution - Missense Breast COSM4754223 EYA2 c.935T>C p.I312T Substitution - Missense Stomach COSM4761290 PRDM10 c.2741A>G p.Q914R Substitution - Missense Stomach COSM4750561 RAI1 c.2456A>C p.K819T Substitution - Missense Stomach COSM4796019 BAHCC1 c.1999G>A p.A667T Substitution - Missense Liver COSM4826795 SUZ12 c.657C>G p.L219L Substitution - coding silent Cervix COSM4984989 HNF1A c.1460G>A p.S487N Substitution - Missense Liver COSM5018425 HDAC5 c.2018delC p.P673fs*20 Deletion - Frameshift Soft_tissue COSM5019408 DNMT1 c.1584C>A p.I528I Substitution - coding silent Soft_tissue COSM5057372 EYA2 c.1491C>T p.Y497Y Substitution - coding silent Stomach COSM5064356 SMARCA1 c.859G>A p.V287I Substitution - Missense Stomach COSM5051907 YEATS4 c.575T>C p.F192S Substitution - Missense Stomach COSM5058825 DNMT3A c.272G>A p.G91E Substitution - Missense Stomach COSM5094915 JMJD1C c.2336A>T p.D779V Substitution - Missense Thymus COSM5149614 BAHCC1 c.1714G>C p.A572P Substitution - Missense Large_intestine COSM5361234 EP400 c.691delG p.G232fs*82 Deletion - Frameshift Large_intestine COSM5366228 PRDM15 c.1414T>A p.F472I Substitution - Missense Large_intestine COSM5396697 NCOA1 c.4246_4247GG>AA p.G1416K Substitution - Missense Skin COSM5373358 KDM2A c.2166G>A p.M722I Substitution - Missense Skin COSM5636371 BTAF1 c.1612T>C p.L538L Substitution - coding silent Oesophagus COSM5642404 SP140 c.30G>T p.M10I Substitution - Missense Oesophagus COSM5752071 TET2 c.1975_1976insT p.Q659fs*22 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5770031 MBD1 c.1225C>T p.P409S Substitution - Missense Breast COSM5731778 EPC1 c.331G>C p.E111Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5652013 CREBBP c.3915-1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5725946 KDM6B c.1172C>T p.P391L Substitution - Missense Skin COSM5724742 INTS12 c.1310C>T p.S437L Substitution - Missense Skin COSM5714104 ZMYM4 c.2716A>G p.S906G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5752179 KMT2C c.2678delA p.K893fs*20 Deletion - Frameshift Breast COSM5711839 PHF8 c.2870G>A p.R957H Substitution - Missense Soft_tissue COSM5762963 TET2 c.3818G>A p.C1273Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5878792 DNMT3A c.1913C>G p.S638C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5823579 RBBP7 c.123G>C p.W41C Substitution - Missense Liver COSM5950377 KDM6A c.2832+1G>T p.? Unknown Prostate COSM5949842 NCOA2 c.684G>A p.Q228Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5954065 RERE c.369C>T p.F123F Substitution - coding silent Upper_aerodigestive_tract COSM5985195 TET2 c.4757C>G p.S1586* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM6004049 UHRF1 c.1515C>T p.T505T Substitution - coding silent Prostate COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Bone COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM53220 IDH1 c.? p.? Unknown Central_nervous_system COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM1103010 TDRD7 c.1809C>A p.I603I Substitution - coding silent Endometrium COSM3494952 CHD8 c.1842C>T p.L614L Substitution - coding silent Skin COSM1674942 BRD3 c.833G>A p.R278Q Substitution - Missense Large_intestine COSM1468255 HDAC6 c.2247delG p.G751fs*16 Deletion - Frameshift Breast COSM115775 ZCWPW1 c.476A>C p.N159T Substitution - Missense Ovary COSM4042399 KMT2D c.3049C>T p.R1017W Substitution - Missense Stomach COSM4036874 RSF1 c.3436C>T p.R1146C Substitution - Missense Stomach COSM5757614 BAP1 c.? p.W202* Substitution - Nonsense Kidney COSM272494 CHD6 c.2287C>T p.R763* Substitution - Nonsense Large_intestine COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM4772496 PRMT10 c.245G>A p.R82Q Substitution - Missense Stomach COSM27527 MSH6 c.? p.S532A Substitution - Missense Central_nervous_system COSM41743 TET2 c.1892C>G p.S631* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1054429 WHSC1 c.778C>T p.R260C Substitution - Missense Endometrium COSM987403 SMCHD1 c.1045-1G>T p.? Unknown Endometrium COSM276009 MBD1 c.187G>A p.D63N Substitution - Missense Large_intestine COSM5394609 BAZ2B c.2349C>T p.Y783Y Substitution - coding silent Skin COSM230133 KMT2C c.1173C>A p.C391* Substitution - Nonsense Soft_tissue COSM5949144 KMT2D c.10231C>T p.Q3411* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM211646 TET2 c.3461G>A p.G1154D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM126825 NCOR1 c.2125C>T p.Q709* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5736824 PHC3 c.371-6G>A p.? Unknown Small_intestine COSM5895240 TP53BP1 c.2702-3_2702-2insT p.? Unknown Skin COSM345361 PCGF1 c.399G>A p.L133L Substitution - coding silent Lung COSM1602444 KDM4A c.1258C>A p.L420M Substitution - Missense Liver COSM144622 KMT2D c.14323_14323delG p.P4776fs*5 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM674890 PRDM2 c.1042G>C p.E348Q Substitution - Missense Lung COSM3786575 MORF4L1 c.857C>T p.A286V Substitution - Missense Pancreas COSM4093221 NCOA1 c.3484G>A p.G1162S Substitution - Missense Stomach COSM13835 ARID1A c.2834delG p.G945fs*23 Deletion - Frameshift Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Small_intestine COSM5925884 SETD1A c.1216C>T p.P406S Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Soft_tissue COSM5702532 BAP1 c.1768_1769insG p.Q590fs*53 Insertion - Frameshift Eye COSM3460555 KDM5A c.3631C>T p.L1211F Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4010186 RERE c.3379G>A p.A1127T Substitution - Missense Stomach COSM4853865 KMT2A c.11356C>T p.R3786C Substitution - Missense Cervix COSM1424543 PBRM1 c.2506C>T p.R836W Substitution - Missense Kidney COSM41292 IDH1 c.? p.R132G Substitution - Missense Bone COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM1685352 IDH2 c.? p.? Unknown Central_nervous_system COSM404917 NIPBL c.6939_6940insAA p.I2314fs*11 Insertion - Frameshift Lung COSM1017612 SP140_ENST00000392045 c.2208G>T p.K736N Substitution - Missense Endometrium COSM169530 SETD2 c.4817G>A p.R1606Q Substitution - Missense Endometrium COSM1007250 EPC2 c.2351_2351+1insGT p.E785fs*1 Unknown Endometrium COSM954004 MTA1 c.1804C>T p.P602S Substitution - Missense Endometrium COSM4478196 KDM2A c.2219C>T p.S740F Substitution - Missense Skin COSM4388241 CBX2 c.1459G>A p.V487I Substitution - Missense Pancreas COSM3306962 HDAC9 c.137T>C p.L46S Substitution - Missense Upper_aerodigestive_tract COSM5988449 BAZ2A c.3875_3879delCACTG p.S1292fs*6 Deletion - Frameshift Salivary_gland COSM1732128 PBRM1 c.360delT p.F120fs*54 Deletion - Frameshift Kidney COSM34212 ASXL1 c.2385delC p.W796fs*22 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4694965 KDM4B c.1035G>A p.T345T Substitution - coding silent Large_intestine COSM5444175 SETDB1 c.561G>T p.Q187H Substitution - Missense Oesophagus COSM4061199 CHD9 c.4212G>A p.A1404A Substitution - coding silent Stomach COSM3457031 SIRT4 c.330C>T p.F110F Substitution - coding silent Skin COSM3942291 BAZ1B c.1567C>G p.Q523E Substitution - Missense Oesophagus COSM1372772 RTF1 c.1283G>A p.R428Q Substitution - Missense Lung COSM2823036 KDM3A c.573T>A p.V191V Substitution - coding silent Large_intestine COSM1660643 ASH1L c.760A>G p.I254V Substitution - Missense Kidney COSM5368306 PCGF2 c.405C>G p.I135M Substitution - Missense Lung COSM5138689 SETMAR c.1482G>A p.T494T Substitution - coding silent Large_intestine COSM5613478 ACTR6 c.656A>T p.D219V Substitution - Missense Lung COSM5095522 BAP1 c.2071C>G p.L691V Substitution - Missense Thymus COSM2998196 SMYD5 c.905T>C p.V302A Substitution - Missense Large_intestine COSM3939173 PCGF1 c.559G>A p.E187K Substitution - Missense Oesophagus COSM4937113 ASXL1 c.3124C>T p.P1042S Substitution - Missense Liver COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4644132 AP001011.3_ENST00000320876 c.979G>A p.V327I Substitution - Missense Large_intestine COSM5491004 PRDM16 c.2259C>T p.A753A Substitution - coding silent Biliary_tract COSM4778381 EP300 c.3074A>G p.E1025G Substitution - Missense Liver COSM254822 KMT2C c.13400A>T p.K4467M Substitution - Missense Urinary_tract COSM895847 POGZ c.1121G>A p.R374Q Substitution - Missense Stomach COSM734125 CLOCK c.1895C>T p.S632L Substitution - Missense Lung COSM1664510 TDRD3 c.463G>T p.G155C Substitution - Missense Kidney COSM2909238 ATAD2B_ENST00000238789 c.1434G>A p.K478K Substitution - coding silent Large_intestine COSM99741 DNMT3A c.2096G>A p.G699D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5637728 TDRD5 c.1982G>A p.R661Q Substitution - Missense Oesophagus COSM3414005 KMT2C c.6078T>A p.Y2026* Substitution - Nonsense Oesophagus COSM4601275 CHD1 c.436G>C p.D146H Substitution - Missense Upper_aerodigestive_tract COSM3841171 NCOA5 c.642G>C p.E214D Substitution - Missense Breast COSM1660728 BAP1 c.271T>G p.C91G Substitution - Missense Kidney COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Central_nervous_system COSM5609444 MSH6 c.1233G>A p.R411R Substitution - coding silent Skin COSM234243 GABRG1 c.505C>T p.R169* Substitution - Nonsense Skin COSM4061229 FTO c.1374A>G p.S458S Substitution - coding silent Stomach COSM5502006 PHF20L1 c.127A>G p.M43V Substitution - Missense Biliary_tract COSM944335 PHC1 c.748G>T p.V250L Substitution - Missense Endometrium COSM1456877 ASH2L c.1286A>G p.E429G Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1025805 DNMT3B c.1609C>T p.R537W Substitution - Missense Stomach COSM1216527 KAT6B c.94A>G p.I32V Substitution - Missense Large_intestine COSM4485794 KAT6B c.2978C>T p.S993F Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4541967 BRPF3 c.30G>A p.Q10Q Substitution - coding silent Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1295178 ASH1L c.396G>A p.K132K Substitution - coding silent Urinary_tract COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1332873 TRIM33 c.2864C>T p.A955V Substitution - Missense Large_intestine COSM1061327 KDM3B c.1698A>G p.S566S Substitution - coding silent Endometrium COSM1453176 TRRAP c.4675G>A p.A1559T Substitution - Missense Large_intestine COSM4686163 GABRG1 c.874T>A p.F292I Substitution - Missense Skin COSM1115433 PHF6 c.396G>T p.K132N Substitution - Missense Endometrium COSM3974434 SETD2 c.5365C>T p.Q1789* Substitution - Nonsense Central_nervous_system COSM691407 PRDM4 c.703C>T p.L235L Substitution - coding silent Lung COSM84765 EP300 c.3671+1G>A p.? Unknown Stomach COSM4991356 ASXL1 c.669C>T p.V223V Substitution - coding silent Skin COSM361944 SMARCA4 c.3706C>T p.Q1236* Substitution - Nonsense Lung COSM342657 MEN1 c.1720G>T p.A574S Substitution - Missense Lung COSM1108242 TAF1L c.2154G>T p.K718N Substitution - Missense Endometrium COSM3637065 HDAC9 c.2074G>A p.E692K Substitution - Missense Skin COSM4845961 PHF13 c.490C>T p.P164S Substitution - Missense Cervix COSM228558 GLYATL1 c.476C>T p.S159L Substitution - Missense Skin COSM224335 JHDM1D c.517C>T p.P173S Substitution - Missense Skin COSM5584538 BAZ2A c.2958A>G p.V986V Substitution - coding silent Skin COSM5706311 RAI1 c.1769G>A p.G590D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM81940 ZMYND8 c.1491C>T p.A497A Substitution - coding silent Ovary COSM5752163 SETD2 c.2107_2110delTCTT p.S703fs*29 Deletion - Frameshift Breast COSM5043306 SUV420H1 c.2552C>A p.P851H Substitution - Missense Liver COSM1352577 PRDM10 c.131G>A p.R44H Substitution - Missense Large_intestine COSM255676 ZMYM3 c.3595C>G p.Q1199E Substitution - Missense Central_nervous_system COSM5945677 SETD2 c.3646_3646delC p.L1216fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4712856 PCNA c.268C>A p.L90I Substitution - Missense Large_intestine COSM4479414 TET2 c.2321C>T p.S774L Substitution - Missense Skin COSM3487577 ARID1A c.2128C>T p.R710C Substitution - Missense Skin COSM1204448 DOT1L c.1291A>G p.T431A Substitution - Missense Large_intestine COSM750801 NCOA2 c.1070G>T p.R357L Substitution - Missense Lung COSM52838 PBRM1 c.3553C>T p.R1185* Substitution - Nonsense Stomach COSM5880312 PHF6 c.134_134G>CC p.C45fs*14 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM1060901 PHF15 c.2171G>T p.R724M Substitution - Missense Endometrium COSM3580135 ING5 c.42C>T p.I14I Substitution - coding silent Skin COSM4891227 WHSC1 c.2827G>T p.D943Y Substitution - Missense Upper_aerodigestive_tract COSM144615 KMT2D c.777_790del14 p.L260fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3932816 AP001011.3_ENST00000320876 c.2122G>A p.V708I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5483284 SMARCA2 c.2649G>A p.P883P Substitution - coding silent Large_intestine COSM5689506 SMYD1 c.1073C>G p.S358W Substitution - Missense Soft_tissue COSM1359417 HNF1A c.865delC p.P291fs*51 Deletion - Frameshift Stomach COSM4935387 INOC1 c.257G>T p.G86V Substitution - Missense Liver COSM5658581 TAF1L c.2750T>G p.L917R Substitution - Missense Soft_tissue COSM2874522 PRDM14 c.939C>T p.H313H Substitution - coding silent Large_intestine COSM5414599 KDM5C c.2248C>T p.R750W Substitution - Missense Skin COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3779769 GTF3C4 c.555G>C p.L185L Substitution - coding silent Urinary_tract COSM4887392 SMCHD1 c.3508G>T p.V1170F Substitution - Missense Upper_aerodigestive_tract COSM4411435 CBX7 c.214_216AGA>G p.R72fs*43 Complex - frameshift Kidney COSM3819170 PHF12 c.1571C>A p.S524Y Substitution - Missense Breast COSM4072973 L3MBTL4 c.623T>C p.L208S Substitution - Missense Stomach COSM4128197 SP140_ENST00000392045 c.719A>G p.K240R Substitution - Missense Ovary COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5708152 NCOA1 c.1567A>G p.S523G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4149625 PBRM1 c.2874C>G p.Y958* Substitution - Nonsense Kidney COSM3660907 SMARCA5 c.2383A>G p.T795A Substitution - Missense Liver COSM99735 KDM6A c.2372A>G p.N791S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1311005 NSD1 c.460G>C p.E154Q Substitution - Missense Urinary_tract COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3432548 EYA1 c.1445C>T p.A482V Substitution - Missense Large_intestine COSM5916821 EYA2 c.706G>A p.G236R Substitution - Missense Skin COSM5687331 HNF1A c.1185C>A p.G395G Substitution - coding silent Soft_tissue COSM1709179 FTO c.529C>T p.P177S Substitution - Missense Skin COSM251269 POGZ c.1261_1263delGCA p.A421delA Deletion - In frame Liver COSM5914200 SMARCA4 c.2483C>T p.S828F Substitution - Missense Skin COSM1737509 ASH1L c.1681A>G p.T561A Substitution - Missense Stomach COSM5962438 ASH1L c.2950C>T p.R984C Substitution - Missense Breast COSM5363024 INOC1 c.2666C>G p.S889C Substitution - Missense Large_intestine COSM3958887 CHD3 c.1441C>G p.H481D Substitution - Missense Lung COSM3813410 ING1 c.259G>A p.E87K Substitution - Missense Breast COSM1026093 NCOA6 c.2246C>T p.P749L Substitution - Missense Endometrium COSM4046303 MPHOSPH8 c.276C>T p.P92P Substitution - coding silent Stomach COSM4790934 GTF3C4 c.1437G>A p.G479G Substitution - coding silent Liver COSM5094857 TRRAP c.10129G>C p.A3377P Substitution - Missense Thymus COSM5800322 POGZ c.1609C>T p.R537C Substitution - Missense Breast COSM3816385 PYGO1 c.983A>C p.H328P Substitution - Missense Breast COSM3353071 TDRD6 c.1890C>A p.V630V Substitution - coding silent Large_intestine COSM3809833 MTA2 c.438G>A p.E146E Substitution - coding silent Breast COSM1196828 ZMYM5 c.404C>T p.S135F Substitution - Missense Lung COSM3998921 CHD4 c.4626A>C p.T1542T Substitution - coding silent Thyroid COSM1240158 SETD5_ENST00000402198 c.3335C>T p.A1112V Substitution - Missense Oesophagus COSM1257409 MBD6 c.559C>T p.P187S Substitution - Missense Oesophagus COSM1324404 FTO c.287G>T p.R96L Substitution - Missense Ovary COSM3939714 MORF4L2 c.90G>A p.Q30Q Substitution - coding silent Oesophagus COSM692216 EP400 c.9086C>G p.S3029C Substitution - Missense Lung COSM4414487 CREBBP c.95C>T p.S32L Substitution - Missense Cervix COSM5011972 KIAA2026_ENST00000399933 c.4084G>T p.A1362S Substitution - Missense Kidney COSM4471407 HDAC7 c.1601C>T p.S534F Substitution - Missense Skin COSM5930594 LMNA c.357-6C>T p.? Unknown Skin COSM3728095 HCFC2 c.2167G>A p.D723N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4802957 MYST3 c.3127G>T p.E1043* Substitution - Nonsense Liver COSM3656825 TAF1L c.5455G>A p.E1819K Substitution - Missense Skin COSM3291653 CHD6 c.6104G>C p.R2035T Substitution - Missense Urinary_tract COSM3175988 PHIP c.2306C>A p.P769H Substitution - Missense Large_intestine COSM4065383 SUZ12 c.857G>A p.R286Q Substitution - Missense Large_intestine COSM464992 RERE c.2958A>C p.P986P Substitution - coding silent Kidney COSM5461399 CHD9 c.6769T>G p.S2257A Substitution - Missense Large_intestine COSM52918 BAP1 c.1984-1G>T p.? Unknown Kidney COSM1266238 SMARCA4 c.3575G>A p.R1192H Substitution - Missense Central_nervous_system COSM437697 KDM6B c.753_761delACCACCACC p.P262_P264delPPP Deletion - In frame Endometrium COSM4779904 UBR7 c.1058G>A p.R353K Substitution - Missense Liver COSM5662080 PHF2 c.3070C>A p.H1024N Substitution - Missense Soft_tissue COSM5046647 SMARCA4 c.2272C>T p.Q758* Substitution - Nonsense Oesophagus COSM1026310 PHF20 c.1659T>C p.P553P Substitution - coding silent Endometrium COSM1240311 SRCAP c.6413G>A p.S2138N Substitution - Missense Oesophagus COSM5639699 PRDM9 c.410C>A p.A137E Substitution - Missense Oesophagus COSM723125 ASXL1 c.2035G>T p.G679* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4788665 MLL5 c.32C>T p.T11I Substitution - Missense Liver COSM4827014 ATAD2 c.706G>A p.D236N Substitution - Missense Cervix COSM96488 TET2 c.3820C>T p.Q1274* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM343389 PCGF6 c.761C>T p.S254F Substitution - Missense Skin COSM1324620 ASXL3 c.2427C>G p.I809M Substitution - Missense Ovary COSM117884 DPF1 c.948C>A p.Y316* Substitution - Nonsense Ovary COSM282818 KMT2D c.3209A>G p.D1070G Substitution - Missense Large_intestine COSM396782 PHF3 c.4680C>T p.L1560L Substitution - coding silent Lung COSM3991936 BRWD1 c.1447A>T p.I483F Substitution - Missense Kidney COSM37029 EZH2 c.1937A>C p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1460904 WDR5 c.641_642insC p.V217fs*42 Insertion - Frameshift Large_intestine COSM30585 SMARCA4 c.1677_1761del85 p.? Unknown Lung COSM353509 KMT2C c.2890_2891GG>TA p.G964>? Complex Lung COSM1737887 TET2 c.507_508delTA p.H169fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5702989 CHD9 c.1846T>C p.S616P Substitution - Missense Autonomic_ganglia COSM5551575 HDGFL1 c.402C>T p.D134D Substitution - coding silent Prostate COSM2823049 KDM3A c.974C>T p.S325F Substitution - Missense Liver COSM1183561 ARID1B c.6581G>A p.R2194H Substitution - Missense Large_intestine COSM3794731 GTF3C1 c.5749G>A p.E1917K Substitution - Missense Urinary_tract COSM29386 SMARCB1 c.796_986del191 p.? Unknown Central_nervous_system COSM1190995 CAMKMT c.938_939insA p.Y313fs*1 Insertion - Frameshift Lung COSM1333900 SETDB1 c.3766C>T p.R1256W Substitution - Missense Liver COSM4170636 ARID1A c.4834_4835delAA p.K1612fs*35 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5573523 RTF1 c.1652-1G>C p.? Unknown Prostate COSM591562 NSD1 c.1457C>G p.S486C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4888553 ARID2 c.1186G>C p.D396H Substitution - Missense Upper_aerodigestive_tract COSM144623 KMT2D c.14736_14736delC p.V4914fs*59 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2812088 SETBP1 c.2601C>T p.S867S Substitution - coding silent Large_intestine COSM88793 EP300 c.4617+1G>A p.? Unknown Soft_tissue COSM757493 ATRX c.2090A>G p.K697R Substitution - Missense Lung COSM4066858 HDAC5 c.1650G>T p.E550D Substitution - Missense Stomach COSM4135988 LBR c.1085-9C>A p.? Unknown Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5718394 PHF2 c.442G>C p.D148H Substitution - Missense Skin COSM1642284 SETD2 c.1240delA p.S414fs*5 Deletion - Frameshift Stomach COSM42020 TET2 c.4870C>T p.Q1624* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3736439 STK31 c.1863T>G p.N621K Substitution - Missense Pancreas COSM466566 PRDM10 c.465G>A p.T155T Substitution - coding silent Endometrium COSM5553209 KDM3A c.841G>C p.E281Q Substitution - Missense Prostate COSM3929620 NCOA2 c.3170G>A p.G1057D Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4590472 SIRT7 c.670A>C p.T224P Substitution - Missense Upper_aerodigestive_tract COSM3731808 ZBTB4 c.2049T>C p.S683S Substitution - coding silent Stomach COSM4099085 ZMYND8 c.872G>A p.C291Y Substitution - Missense Stomach COSM4606069 MTA2 c.881T>C p.F294S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1087060 EZH2 c.620G>A p.R207Q Substitution - Missense Endometrium COSM4495064 MYST3 c.4454C>T p.S1485F Substitution - Missense Skin COSM485077 KMT2C c.10814A>T p.K3605I Substitution - Missense Kidney COSM41741 TET2 c.5618T>C p.I1873T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3690878 JMJD5 c.510G>A p.A170A Substitution - coding silent Large_intestine COSM4104430 EP300 c.1442C>T p.P481L Substitution - Missense Stomach COSM4669629 CCDC101 c.737G>A p.R246H Substitution - Missense Large_intestine COSM4885747 SIRT5 c.631G>T p.G211C Substitution - Missense Upper_aerodigestive_tract COSM3650680 PRDM14 c.60G>A p.E20E Substitution - coding silent Skin COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM462187 TAF1 c.2620G>A p.E874K Substitution - Missense Cervix COSM4118007 SETD2 c.3266G>A p.R1089Q Substitution - Missense Stomach COSM1610012 PHF12 c.1018C>T p.R340C Substitution - Missense Liver COSM757656 ZMYM3 c.481G>A p.E161K Substitution - Missense Lung COSM3757367 TRIM28 c.1170G>A p.K390K Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5468432 KMT2D c.15401C>G p.S5134C Substitution - Missense Large_intestine COSM3687038 TTF2 c.1690G>A p.A564T Substitution - Missense Large_intestine COSM2006773 KMT2D c.12592C>T p.R4198W Substitution - Missense Large_intestine COSM3624663 BAG6 c.296C>A p.S99Y Substitution - Missense Skin COSM5646970 MSL3 c.409G>C p.E137Q Substitution - Missense Oesophagus COSM1471981 PHF3 c.612C>T p.S204S Substitution - coding silent Prostate COSM5438473 NIPBL c.8162G>A p.R2721Q Substitution - Missense Oesophagus COSM133001 ARID1A c.5548_5548delG p.D1850fs*33 Deletion - Frameshift Large_intestine COSM4158281 ATXN7 c.116A>C p.Q39P Substitution - Missense Thyroid COSM110751 TET2 c.3735C>A p.Y1245* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4447849 UHRF1 c.371G>A p.G124D Substitution - Missense Skin COSM4097797 NCOA6 c.6056G>C p.R2019P Substitution - Missense Stomach COSM1641709 ATF2 c.318delA p.M107fs*3 Deletion - Frameshift Large_intestine COSM697542 CHD8 c.6499G>T p.V2167F Substitution - Missense Lung COSM21300 TRRAP c.7323C>T p.F2441F Substitution - coding silent Lung COSM20589 BRD3 c.1936+1G>A p.? Unknown Stomach COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM23056 MEN1 c.1033delG p.A345fs*23 Deletion - Frameshift Small_intestine COSM43490 TET2 c.1664_1665insC p.T556fs*11 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM83927 VPS72 c.941G>A p.R314Q Substitution - Missense Pancreas COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM81614 PRDM7 c.129G>A p.G43G Substitution - coding silent Ovary COSM74300 CXXC1 c.657C>G p.F219L Substitution - Missense Ovary COSM75103 KDM2B c.2587G>T p.D863Y Substitution - Missense Ovary COSM100077 TET2 c.1441C>T p.Q481* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM88754 CREBBP c.4865A>G p.Y1622C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM95817 CREBBP c.1557G>A p.R519R Substitution - coding silent Lung COSM112087 TDG c.286_287insA p.I98fs*6 Insertion - Frameshift Central_nervous_system COSM134028 PCGF1 c.55G>A p.E19K Substitution - Missense Skin COSM147885 MGA c.9259C>T p.R3087W Substitution - Missense Stomach COSM213213 DIDO1 c.3330G>C p.K1110N Substitution - Missense Breast COSM226979 PRDM9 c.2440A>C p.S814R Substitution - Missense Large_intestine COSM249142 DNMT3A c.2185C>T p.R729W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM255017 KDM6A c.1663C>T p.Q555* Substitution - Nonsense Urinary_tract COSM41850 TET2 c.1630C>T p.R544* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM251387 ARID1A c.3818_3843>G p.M1273fs Complex Liver COSM263597 SETBP1 c.1293C>A p.I431I Substitution - coding silent Large_intestine COSM258164 TET2 c.426C>T p.S142S Substitution - coding silent Large_intestine COSM277231 SETBP1 c.354G>T p.K118N Substitution - Missense Large_intestine COSM301930 CHD3 c.721G>C p.A241P Substitution - Missense Central_nervous_system COSM312113 KDM4A c.1602A>T p.R534R Substitution - coding silent Soft_tissue COSM369273 BAHD1 c.95A>G p.Q32R Substitution - Missense Lung COSM382224 CHD6 c.2986G>C p.G996R Substitution - Missense Lung COSM391655 PRDM2 c.2445_2452delTAGCAGTG p.S816fs*17 Deletion - Frameshift Lung COSM451825 PHIP c.3457G>A p.D1153N Substitution - Missense Breast COSM465610 EPC1 c.13T>C p.S5P Substitution - Missense Kidney COSM688114 PRDM11 c.283G>T p.D95Y Substitution - Missense Lung COSM1646547 CHD4 c.2280G>C p.Q760H Substitution - Missense Lung COSM1027508 EYA2 c.1034T>G p.L345* Substitution - Nonsense Endometrium COSM1018599 ATAD2B_ENST00000238789 c.4376G>T p.*1459L Nonstop extension Endometrium COSM750804 NCOA2 c.1337G>A p.G446E Substitution - Missense Lung COSM919617 SIRT1 c.2094C>T p.F698F Substitution - coding silent Endometrium COSM753639 TAF1L c.3868G>T p.G1290* Substitution - Nonsense Lung COSM708011 ASXL3 c.1758A>C p.S586S Substitution - coding silent Lung COSM734372 GABRG1 c.653A>G p.Y218C Substitution - Missense Lung COSM911677 PHF13 c.628C>T p.R210* Substitution - Nonsense Skin COSM908997 MEAF6 c.396A>C p.E132D Substitution - Missense Endometrium COSM933542 KDM4D c.79G>T p.E27* Substitution - Nonsense Endometrium COSM1162748 BRD9 c.928A>T p.M310L Substitution - Missense Upper_aerodigestive_tract COSM1265642 SIRT7 c.869G>A p.R290Q Substitution - Missense Stomach COSM1220362 PHF20 c.2482C>T p.R828C Substitution - Missense Stomach COSM1215182 KMT2A c.4081G>T p.E1361* Substitution - Nonsense Large_intestine COSM1209511 HELLS c.2482A>C p.N828H Substitution - Missense Large_intestine COSM1169596 PBRM1 c.2716A>T p.R906* Substitution - Nonsense Kidney COSM1161249 SMARCA4 c.1593+2T>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1606397 BAZ2A c.3292A>G p.I1098V Substitution - Missense Liver COSM1300697 ARID4A c.1970G>C p.R657T Substitution - Missense Urinary_tract COSM1317224 ASH2L c.171C>T p.S57S Substitution - coding silent Biliary_tract COSM1318613 TET2 c.4317delA p.K1439fs*9 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM42029 TET2 c.3646C>T p.R1216* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1324722 CHD3 c.1381G>C p.V461L Substitution - Missense Ovary COSM1416624 TCF20 c.1780G>A p.D594N Substitution - Missense Large_intestine COSM1427431 PRMT10 c.1891G>T p.E631* Substitution - Nonsense Large_intestine COSM1342103 ZMYM6 c.1909delA p.I637fs*14 Deletion - Frameshift Large_intestine COSM1365718 ZMYM2 c.1002_1003insA p.P337fs*41 Insertion - Frameshift Large_intestine COSM1359747 SETD8 c.849-2A>T p.? Unknown Upper_aerodigestive_tract COSM1565754 NCOA5 c.238G>A p.D80N Substitution - Missense Large_intestine COSM1568249 PHIP c.1153C>T p.R385C Substitution - Missense Large_intestine COSM1470732 INOC1 c.4573C>A p.P1525T Substitution - Missense Kidney COSM1621249 HDGFL1 c.739G>T p.D247Y Substitution - Missense Liver COSM1582357 ZBTB4 c.877C>T p.R293* Substitution - Nonsense Stomach COSM1678819 GLYR1 c.1138G>A p.G380R Substitution - Missense Large_intestine COSM1673336 TRRAP c.2087G>A p.R696H Substitution - Missense Large_intestine COSM1706466 EP400 c.3719C>T p.S1240F Substitution - Missense Skin COSM1706776 SETDB2 c.2017C>T p.P673S Substitution - Missense Skin COSM1717368 SETBP1 c.2601C>A p.S867R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1664381 STK31 c.1963G>C p.E655Q Substitution - Missense Kidney COSM1661547 DOT1L c.2945G>C p.S982T Substitution - Missense Kidney COSM1753998 KDM3B c.1809A>T p.P603P Substitution - coding silent Urinary_tract COSM1756430 FMR1 c.581C>T p.T194I Substitution - Missense Urinary_tract COSM1756702 UTY c.2479C>T p.Q827* Substitution - Nonsense Urinary_tract COSM1747473 SETDB2 c.2139A>G p.K713K Substitution - coding silent Urinary_tract COSM2156506 ZMYM3 c.2532C>A p.V844V Substitution - coding silent Central_nervous_system COSM2235571 ARID1A c.6343C>T p.Q2115* Substitution - Nonsense Endometrium COSM3087120 BAZ1B c.4262G>A p.R1421H Substitution - Missense Biliary_tract COSM3364050 KDM5C c.4372C>T p.R1458W Substitution - Missense Skin COSM3358487 PBRM1 c.3839_3844delCTGCTA p.S1280_K1282>* Complex - deletion inframe Kidney COSM3479275 TDRD5 c.439C>T p.P147S Substitution - Missense Skin COSM3494920 CHD8 c.5581C>T p.P1861S Substitution - Missense Skin COSM3421571 KAT2A c.746G>A p.R249Q Substitution - Missense Large_intestine COSM3636523 KMT2C c.2902C>T p.Q968* Substitution - Nonsense Skin COSM3624647 BAG6 c.2024C>T p.P675L Substitution - Missense Skin COSM3622136 JARID2 c.56A>T p.D19V Substitution - Missense Skin COSM3531573 DOT1L c.2225C>A p.P742H Substitution - Missense Skin COSM3656833 TAF1L c.4768G>A p.D1590N Substitution - Missense Oesophagus COSM3690061 BAZ1A c.4608C>T p.H1536H Substitution - coding silent Stomach COSM3708296 L3MBTL2 c.894G>T p.M298I Substitution - Missense Liver COSM3735017 SMARCA4 c.2245_2246insA p.M749fs*75 Insertion - Frameshift Ovary COSM3718537 SETBP1 c.3856C>T p.P1286S Substitution - Missense Upper_aerodigestive_tract COSM3728129 KDM6A c.3637C>T p.R1213* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3850369 BRD8 c.2252C>A p.P751H Substitution - Missense Stomach COSM3845022 SMC1A c.2714T>A p.M905K Substitution - Missense Breast COSM3827995 NIPBL c.1548T>G p.G516G Substitution - coding silent Breast COSM3927460 KDM3B c.534T>C p.V178V Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3878703 JHDM1D c.1865A>G p.E622G Substitution - Missense Stomach COSM3874518 TDRD6 c.1440T>G p.S480S Substitution - coding silent Stomach COSM3967414 PRDM10 c.2731C>T p.R911* Substitution - Nonsense Central_nervous_system COSM4032864 PRDM11 c.431C>T p.A144V Substitution - Missense Prostate COSM4019727 NCOA5 c.1427G>C p.R476T Substitution - Missense Oesophagus COSM4054560 MGA c.3736C>T p.R1246* Substitution - Nonsense Stomach COSM3993111 SETD2 c.3795G>T p.K1265N Substitution - Missense Kidney COSM4101921 AIRE c.967C>A p.L323M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4168800 CHD3 c.5677G>A p.A1893T Substitution - Missense Peritoneum COSM4210558 CHD4 c.4026G>T p.Q1342H Substitution - Missense Large_intestine COSM4263949 RAI1 c.843G>C p.Q281H Substitution - Missense Soft_tissue COSM4384957 PHF12 c.2921G>A p.G974D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4383540 DNMT3A c.2193_2195delCTT p.F732delF Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM4383540 DNMT3A c.2193_2195delCTT p.F732delF Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM4601810 GTF3C1 c.28G>A p.E10K Substitution - Missense Liver COSM4601234 PHF20 c.2737G>T p.A913S Substitution - Missense Upper_aerodigestive_tract COSM4596567 AKAP1 c.1289C>A p.P430Q Substitution - Missense Upper_aerodigestive_tract COSM4443600 CHD7 c.6335C>T p.T2112M Substitution - Missense Large_intestine COSM4586870 PHF3 c.911C>T p.T304M Substitution - Missense Bone COSM4495808 CHD4 c.4613C>T p.P1538L Substitution - Missense Skin COSM4440428 GLYR1 c.834G>T p.M278I Substitution - Missense Thyroid COSM4513302 PRDM9 c.932C>T p.S311F Substitution - Missense Skin COSM4460507 CHD8 c.1169C>T p.P390L Substitution - Missense Skin COSM4459814 HNF1A c.1140C>T p.V380V Substitution - coding silent Skin COSM4770140 PRDM8 c.138G>T p.L46L Substitution - coding silent Biliary_tract COSM4689610 HCFC2 c.2179C>A p.Q727K Substitution - Missense Large_intestine COSM4646827 ASH2L c.925G>A p.G309R Substitution - Missense Large_intestine COSM4755863 SMARCC2 c.1393T>C p.Y465H Substitution - Missense Stomach COSM4791080 MECOM c.1527C>G p.L509L Substitution - coding silent Liver COSM4882128 SMC1A c.1572G>T p.Q524H Substitution - Missense Upper_aerodigestive_tract COSM4883880 PRDM16 c.2239C>A p.H747N Substitution - Missense Upper_aerodigestive_tract COSM4917374 NSD1 c.7992T>C p.S2664S Substitution - coding silent Liver COSM4932089 EHMT1 c.2524G>T p.G842C Substitution - Missense Liver COSM4817483 ZMYM6 c.2430A>T p.E810D Substitution - Missense Cervix COSM4820610 CBX4 c.1000G>A p.G334R Substitution - Missense Cervix COSM4964471 MBD6 c.1162C>T p.R388C Substitution - Missense Pancreas COSM5000391 EP400 c.8641C>T p.P2881S Substitution - Missense Pancreas COSM4991715 DNMT3A c.2337G>A p.M779I Substitution - Missense Skin COSM4987392 KDM6B c.2257A>G p.T753A Substitution - Missense Soft_tissue COSM4982251 ATF2 c.221G>C p.R74T Substitution - Missense Oesophagus COSM5012609 TDG c.1181C>A p.S394Y Substitution - Missense Kidney COSM5058124 EPC2 c.1725A>G p.T575T Substitution - coding silent Stomach COSM5086195 UHRF2 c.2170C>T p.L724L Substitution - coding silent Large_intestine COSM5038497 ASXL3 c.1459T>C p.S487P Substitution - Missense Skin COSM5046077 ATAD2 c.3414A>T p.R1138S Substitution - Missense Oesophagus COSM5042055 BAZ2A_ENST00000379441 c.1096G>A p.A366T Substitution - Missense Liver COSM5398616 MECOM c.866C>T p.A289V Substitution - Missense Skin COSM5380520 ARID1A c.4906C>T p.R1636W Substitution - Missense Skin COSM5501020 BAHD1 c.306G>T p.P102P Substitution - coding silent Biliary_tract COSM5461991 POGZ c.3514A>G p.T1172A Substitution - Missense Large_intestine COSM5479692 TET2 c.278G>A p.G93E Substitution - Missense Large_intestine COSM5470528 GLYR1 c.1007C>T p.A336V Substitution - Missense Large_intestine COSM5423725 SETD1B c.1591G>A p.D531N Substitution - Missense Prostate COSM5637613 SMARCC2 c.94G>C p.G32R Substitution - Missense Oesophagus COSM5753652 PRMT3 c.1073-1G>A p.? Unknown Large_intestine COSM5762258 ATRX c.6065T>G p.L2022R Substitution - Missense Central_nervous_system COSM5611262 EP300 c.2639_2641CCC>TTT p.P880_P881>LS Complex - compound substitution Skin COSM5580598 CDYL2 c.414G>A p.R138R Substitution - coding silent Skin COSM5609766 PBRM1 c.2999G>T p.R1000L Substitution - Missense Skin COSM5606356 BRD3 c.220C>T p.H74Y Substitution - Missense Skin COSM5692562 TP53BP1 c.361C>T p.L121L Substitution - coding silent Soft_tissue COSM5710323 ING3 c.910_912delAAC p.N306delN Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM5547881 TRIM33 c.1155+2_1155+11delTATGGTTCAA p.? Unknown Prostate COSM5611426 BAP1 c.504_511delCCACTTTG p.H169fs*11 Deletion - Frameshift Pleura COSM5813945 ATRX c.1768C>A p.L590I Substitution - Missense Liver COSM5945623 PHF6 c.853C>T p.Q285* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5899099 CHD8 c.3448C>T p.H1150Y Substitution - Missense Skin COSM5913125 TDRD1 c.2981G>A p.G994E Substitution - Missense Skin COSM5961786 DOT1L c.671T>C p.L224P Substitution - Missense Adrenal_gland COSM6013363 KIAA2026_ENST00000399933 c.5432C>T p.S1811L Substitution - Missense Skin COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM132980 ASXL1 c.? p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5753358 PBRM1 c.? p.K1282fs*? Frameshift Kidney COSM4219284 ARID1A c.? p.V1427fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM5753352 PBRM1 c.? p.H24fs*? Frameshift Kidney COSM954425 CHD8 c.5314C>T p.R1772C Substitution - Missense Endometrium COSM21286 BRD2 c.550_552delGAA p.E184_Q185>Q Deletion - In frame Stomach COSM3972064 SP140_ENST00000392045 c.554C>T p.S185L Substitution - Missense Central_nervous_system COSM1726105 PRMT7 c.1231G>A p.G411S Substitution - Missense Liver COSM4408138 EP400 c.5393T>A p.V1798E Substitution - Missense Oesophagus COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM1615124 PCGF1 c.413T>C p.L138P Substitution - Missense Liver COSM738268 PRDM9 c.2373C>A p.L791L Substitution - coding silent Lung COSM4385696 ASXL1 c.2323_2324insA p.L775fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4064174 NCOR1 c.311T>C p.L104P Substitution - Missense Stomach COSM2854039 PBRM1 c.3548G>A p.W1183* Substitution - Nonsense Skin COSM1633699 GABRG1 c.1324T>C p.Y442H Substitution - Missense Liver COSM1605865 ATF7IP c.2719A>G p.I907V Substitution - Missense Liver COSM1034536 EP300 c.3302C>T p.T1101I Substitution - Missense Endometrium COSM5719123 ORC1 c.1584G>T p.G528G Substitution - coding silent Skin COSM3732778 KMT2A c.4650delT p.H1551fs*35 Deletion - Frameshift Stomach COSM87011 DNMT3A c.2141C>G p.S714C Substitution - Missense Liver COSM1753539 PHF17 c.1864G>A p.E622K Substitution - Missense Urinary_tract COSM5736838 FXR1 c.29G>A p.G10D Substitution - Missense Small_intestine COSM4608509 MTA1 c.1229C>A p.P410H Substitution - Missense Adrenal_gland COSM3690014 CHD8 c.7036G>A p.E2346K Substitution - Missense Large_intestine COSM3812223 SMARCD1 c.999C>A p.I333I Substitution - coding silent Breast COSM5793548 TET2 c.5919A>G p.E1973E Substitution - coding silent Breast COSM212134 ASH1L c.1968G>C p.L656F Substitution - Missense Breast COSM1389489 L3MBTL4 c.1656A>G p.V552V Substitution - coding silent Large_intestine COSM4549737 TAF1L c.4815G>A p.E1605E Substitution - coding silent Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM211729 TET2 c.4064C>T p.A1355V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5981445 SMARCA4 c.3623A>G p.N1208S Substitution - Missense Upper_aerodigestive_tract COSM4185570 NIPBL c.6343G>A p.G2115S Substitution - Missense Kidney COSM5571723 TRIM33 c.1899A>T p.V633V Substitution - coding silent Prostate COSM52953 DNMT3A c.? p.R736H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM51421 ARID1A c.5953T>C p.S1985P Substitution - Missense Ovary COSM1054436 WHSC1 c.2264G>A p.R755Q Substitution - Missense Endometrium COSM3905419 BRD3 c.1310C>T p.A437V Substitution - Missense Stomach COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM2270957 DNMT3A c.1547_1547delA p.N516fs*135 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3360847 HDAC1 c.1023C>G p.F341L Substitution - Missense Kidney COSM972733 PRMT7 c.324G>T p.E108D Substitution - Missense Endometrium COSM420316 ATXN7 c.2672G>A p.R891H Substitution - Missense Large_intestine COSM4182198 BTAF1 c.4702G>A p.V1568I Substitution - Missense Large_intestine COSM1230118 TP53BP1 c.2680A>C p.S894R Substitution - Missense Large_intestine COSM3951828 PRDM14 c.328G>A p.E110K Substitution - Missense Lung COSM1445558 PHF3 c.5468T>C p.F1823S Substitution - Missense Large_intestine COSM1731223 RAD54L c.2013C>A p.S671R Substitution - Missense Liver COSM1161346 SP140_ENST00000392045 c.406+2T>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5684036 KMT2D c.12349C>T p.Q4117* Substitution - Nonsense Soft_tissue COSM3528411 SMARCA4 c.1016C>T p.P339L Substitution - Missense Skin COSM338368 PHIP c.375G>T p.L125L Substitution - coding silent Lung COSM468038 EP400 c.8229G>A p.Q2743Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3991780 ADNP c.1979T>C p.L660P Substitution - Missense Kidney COSM150428 KMT2C c.2958A>G p.P986P Substitution - coding silent Soft_tissue COSM3719347 BAZ1B c.1381C>T p.P461S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM132982 ASXL1 c.? p.C789fs*29 Frameshift Haematopoietic_and_lymphoid_tissue COSM1080955 PHF3 c.2869A>C p.K957Q Substitution - Missense Large_intestine COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Central_nervous_system COSM381655 PRDM14 c.1058G>T p.C353F Substitution - Missense Lung COSM1045684 DHX30 c.255+1G>A p.? Unknown Endometrium COSM906832 SMYD3 c.701T>G p.I234S Substitution - Missense Endometrium COSM426379 RAD54L c.2124C>A p.H708Q Substitution - Missense Breast COSM3421923 JMJD6 c.28C>G p.R10G Substitution - Missense Large_intestine COSM684576 ZMYND11 c.327G>C p.K109N Substitution - Missense Lung COSM1304125 MBD3 c.384G>A p.Q128Q Substitution - coding silent Urinary_tract COSM5569639 CHD6 c.8140A>G p.T2714A Substitution - Missense Prostate COSM3599590 PRDM5 c.252C>T p.F84F Substitution - coding silent Skin COSM255372 KDM6A c.894delG p.V300fs*25 Deletion - Frameshift Central_nervous_system COSM2687988 NIPBL c.5690A>G p.N1897S Substitution - Missense Stomach COSM4384324 KMT2C c.8018A>G p.D2673G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1088175 HDAC9 c.1476G>A p.S492S Substitution - coding silent Skin COSM1183251 APOBEC1 c.223G>A p.D75N Substitution - Missense Large_intestine COSM1753989 BRD8 c.671C>T p.S224F Substitution - Missense Upper_aerodigestive_tract COSM5882018 KMT2A c.5756A>C p.K1919T Substitution - Missense Large_intestine COSM144606 KMT2D c.3393T>A p.Y1131* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1756660 TAF1 c.4021C>G p.L1341V Substitution - Missense Urinary_tract COSM88090 KMT2D c.15691C>T p.R5231* Substitution - Nonsense Lung COSM3142346 PRDM13 c.112T>C p.S38P Substitution - Missense Large_intestine COSM4169929 CTCF c.1927C>T p.P643S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM295618 PRMT10 c.1191T>A p.I397I Substitution - coding silent Large_intestine COSM3578893 SP140_ENST00000392045 c.799G>A p.E267K Substitution - Missense Skin COSM3706248 BAZ1A c.553A>G p.I185V Substitution - Missense Liver COSM3508920 SRCAP c.7617A>G p.S2539S Substitution - coding silent Skin COSM5969249 KDM1A c.1338T>C p.H446H Substitution - coding silent Upper_aerodigestive_tract COSM3555271 PHF21B c.559A>G p.N187D Substitution - Missense Skin COSM94245 ERCC6 c.3082G>A p.D1028N Substitution - Missense Lung COSM5629622 KMT2C c.8982T>C p.I2994I Substitution - coding silent Oesophagus COSM3866157 RERE c.4045C>T p.R1349W Substitution - Missense Large_intestine COSM1158242 SETD2 c.4338_4340delACC p.P1447delP Deletion - In frame Pancreas COSM4849031 DOT1L c.3604-1G>C p.? Unknown Cervix COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4919192 PHC3 c.2435A>T p.N812I Substitution - Missense Liver COSM2739885 SMYD4 c.1641C>T p.S547S Substitution - coding silent Large_intestine COSM1046992 BAP1 c.1484C>T p.T495M Substitution - Missense Endometrium COSM3662731 PHIP c.1829A>T p.E610V Substitution - Missense Liver COSM3911310 CHD6 c.7472C>T p.P2491L Substitution - Missense Skin COSM1067689 NIPBL c.5025C>A p.F1675L Substitution - Missense Endometrium COSM1997429 ACTA1 c.998C>A p.A333D Substitution - Missense Large_intestine COSM4591210 PRDM14 c.187G>C p.A63P Substitution - Missense Upper_aerodigestive_tract COSM1628795 CHD4 c.1702C>T p.Q568* Substitution - Nonsense Liver COSM681069 PHC2 c.1344C>G p.F448L Substitution - Missense Lung COSM3371847 PRMT2 c.642G>A p.G214G Substitution - coding silent Thyroid COSM4447684 BAHCC1 c.2198_2199CC>TT p.A733V Substitution - Missense Skin COSM4654424 PHF19 c.43G>A p.G15S Substitution - Missense Large_intestine COSM988828 MBD1 c.1558G>A p.V520I Substitution - Missense Endometrium COSM5758693 TRRAP c.3562C>A p.L1188I Substitution - Missense Bone COSM5065036 TET2 c.4657C>T p.Q1553* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1701035 TAF1L c.1678C>T p.L560F Substitution - Missense Skin COSM5902174 TCF20 c.5209C>T p.P1737S Substitution - Missense Skin COSM5983435 SUV39H2 c.861C>G p.L287L Substitution - coding silent Upper_aerodigestive_tract COSM1299878 APOBEC1 c.193A>G p.N65D Substitution - Missense Stomach COSM5681154 TAF1 c.3814C>A p.H1272N Substitution - Missense Soft_tissue COSM3514750 RAI1 c.2616C>G p.S872S Substitution - coding silent Skin COSM1483695 NCOA5 c.703G>C p.E235Q Substitution - Missense Breast COSM13892 MSH6 c.3656C>T p.T1219I Substitution - Missense Skin COSM3522230 ZBTB4 c.1670C>T p.A557V Substitution - Missense Skin COSM3420981 CREBBP c.3832G>A p.E1278K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5945657 TET2 c.2288C>T p.P763L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3736948 BAP1 c.58_59insTG p.E20fs*53 Insertion - Frameshift Skin COSM4617221 RSF1 c.439G>A p.D147N Substitution - Missense Large_intestine COSM168089 KMT2D c.6251delC p.P2084fs*30 Deletion - Frameshift Large_intestine COSM5945693 ATRX c.? p.R808* Substitution - Nonsense Central_nervous_system COSM5400093 SETD5_ENST00000402198 c.3799_3800delAC p.Q1268fs*54 Deletion - Frameshift Skin COSM4043165 CBX5 c.114A>C p.L38L Substitution - coding silent Stomach COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3061738 TCF20 c.5173delT p.Y1725fs*157 Deletion - Frameshift Large_intestine COSM3186029 MSH6 c.3164C>T p.A1055V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5989796 TET2 c.364A>T p.R122* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM750805 NCOA2 c.1472G>A p.R491H Substitution - Missense Stomach COSM1669701 IDH1 c.782C>T p.S261L Substitution - Missense Large_intestine COSM1231708 UHRF1 c.62T>C p.M21T Substitution - Missense Large_intestine COSM4146853 EP400 c.6646A>C p.T2216P Substitution - Missense Upper_aerodigestive_tract COSM4021565 PRDM2 c.4631T>C p.V1544A Substitution - Missense Stomach COSM4885603 TRRAP c.9336C>T p.A3112A Substitution - coding silent Upper_aerodigestive_tract COSM5028961 BRWD3 c.3939G>T p.L1313F Substitution - Missense Breast COSM4633663 ARID2 c.478A>G p.K160E Substitution - Missense Large_intestine COSM729158 PHC3 c.1631C>G p.P544R Substitution - Missense Lung COSM5639145 ATAD2 c.3601G>A p.D1201N Substitution - Missense Oesophagus COSM3931546 HNF1A c.1375C>T p.L459L Substitution - coding silent Liver COSM3931546 HNF1A c.1375C>T p.L459L Substitution - coding silent Liver COSM5044688 PHF8 c.1516C>A p.R506R Substitution - coding silent Lung COSM1049123 BRPF1 c.694C>T p.R232W Substitution - Missense Endometrium COSM240690 KMT2D c.4285C>T p.R1429* Substitution - Nonsense Endometrium COSM1440578 EYA4 c.678C>T p.F226F Substitution - coding silent Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM198796 PHF2 c.1468delA p.K492fs*6 Deletion - Frameshift Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3907580 KIAA2026_ENST00000399933 c.2393A>G p.Y798C Substitution - Missense Stomach COSM3437324 EPC1 c.2399C>T p.S800F Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1668035 ASH1L c.5465A>C p.N1822T Substitution - Missense Large_intestine COSM4461126 BRD7 c.1193C>T p.P398L Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5818333 MBD3 c.621G>A p.W207* Substitution - Nonsense Liver COSM4766110 TET2 c.5301_5301delT p.S1767fs*53 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM675454 POGZ c.2546-4A>G p.? Unknown Liver COSM5719629 SMYD1 c.1242G>A p.G414G Substitution - coding silent Skin COSM3800799 UTY c.808C>T p.L270F Substitution - Missense Urinary_tract COSM5692156 CHD1 c.4754A>G p.H1585R Substitution - Missense Soft_tissue COSM87177 TET2 c.5219T>G p.L1740* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1330941 CHD7 c.405G>A p.G135G Substitution - coding silent Ovary COSM5025858 SP110 c.479G>A p.G160E Substitution - Missense Breast COSM1041556 ACTL6A c.521C>T p.A174V Substitution - Missense Endometrium COSM241372 RBBP4 c.118C>G p.L40V Substitution - Missense Prostate COSM84432 ASXL3 c.1279T>C p.S427P Substitution - Missense Large_intestine COSM1750838 SIRT6 c.367G>T p.G123C Substitution - Missense Urinary_tract COSM1717435 PBRM1 c.? p.E367* Substitution - Nonsense Biliary_tract COSM1680025 BPTF c.2939G>A p.G980E Substitution - Missense Large_intestine COSM1167955 ARID2 c.2680C>T p.Q894* Substitution - Nonsense Skin COSM3717857 SMCHD1 c.1430A>T p.K477M Substitution - Missense Liver COSM1965099 KAT6B c.1714C>T p.R572C Substitution - Missense Stomach COSM4513133 DNMT3B c.891C>T p.S297S Substitution - coding silent Skin COSM4826346 MLL5 c.4942C>T p.Q1648* Substitution - Nonsense Cervix COSM4383552 DNMT3A c.2110G>A p.V704M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1083683 MLL5 c.3081C>T p.L1027L Substitution - coding silent Endometrium COSM726945 TCF20 c.3065G>A p.R1022Q Substitution - Missense Lung COSM1308214 EP300 c.6754G>T p.E2252* Substitution - Nonsense Urinary_tract COSM4395162 CDYL2 c.336C>G p.P112P Substitution - coding silent Skin COSM4536756 SMYD4 c.2341G>A p.E781K Substitution - Missense Skin COSM2740188 RAI1 c.1506C>G p.S502R Substitution - Missense Large_intestine COSM301320 SUZ12 c.856C>T p.R286* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3637561 STK31 c.2485G>A p.E829K Substitution - Missense Skin COSM452704 KMT2C c.6439C>T p.Q2147* Substitution - Nonsense Skin COSM4949919 SETD1A c.719G>A p.G240D Substitution - Missense Liver COSM4039476 KDM2B c.2107G>A p.V703I Substitution - Missense Stomach COSM1071742 PRDM1 c.1132C>T p.L378F Substitution - Missense Endometrium COSM4978134 LMNB2 c.659G>A p.R220H Substitution - Missense Large_intestine COSM4997885 TDRD10 c.643G>A p.V215I Substitution - Missense Large_intestine COSM1626417 SETDB1 c.3670-8A>T p.? Unknown Liver COSM144543 TET2 c.3661T>C p.C1221R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5945055 TET2 c.4135G>C p.A1379P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5887374 ALKBH3 c.199C>T p.P67S Substitution - Missense Skin COSM4479865 KDM3A c.2368C>T p.P790S Substitution - Missense Skin COSM4950029 PBRM1 c.2185delG p.V729fs*2 Deletion - Frameshift Liver COSM1724981 TET2 c.3851delC p.F1285fs*78 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1560993 PCGF6 c.83_84insGCCTCC p.P28_V29insPP Insertion - In frame Large_intestine COSM1745013 KMT2D c.9920A>G p.Q3307R Substitution - Missense Soft_tissue COSM3731914 MTA1 c.1344+5delG p.? Unknown Large_intestine COSM4423934 DIDO1 c.6121T>C p.W2041R Substitution - Missense Prostate COSM3659713 PHF2 c.947C>T p.P316L Substitution - Missense Skin COSM1419190 HDAC11 c.68G>A p.R23H Substitution - Missense Large_intestine COSM53247 TET2 c.1379C>T p.S460F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3214124 BRD3 c.851G>A p.R284H Substitution - Missense Stomach COSM5641542 PHF17 c.1247G>A p.R416H Substitution - Missense Oesophagus COSM5879656 ASXL1 c.1931_1932insGGGT p.P647fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3667867 CHD9 c.7739C>T p.P2580L Substitution - Missense Liver COSM2965365 KDM6A c.1980C>A p.L660L Substitution - coding silent Upper_aerodigestive_tract COSM4600362 BAZ1A c.3437T>A p.I1146K Substitution - Missense Upper_aerodigestive_tract COSM1735411 RSF1 c.2398delA p.R800fs*24 Deletion - Frameshift Prostate COSM5769067 BRWD3 c.920G>A p.R307H Substitution - Missense Breast COSM5753196 KMT2C c.9697C>T p.Q3233* Substitution - Nonsense Pancreas COSM3608874 BRD8 c.3501A>G p.Q1167Q Substitution - coding silent Skin COSM4805192 SMARCA2 c.3452A>G p.H1151R Substitution - Missense Liver COSM4606369 PHF6 c.?_?insCA p.N147fs*? Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM282743 MECOM c.1226C>T p.S409L Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4627105 KMT2D c.8635T>C p.S2879P Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5929009 ATAD2 c.2306A>T p.H769L Substitution - Missense Skin COSM401541 RTF1 c.402G>C p.Q134H Substitution - Missense Lung COSM128300 KDM1B c.1614G>A p.V538V Substitution - coding silent Upper_aerodigestive_tract COSM1386348 ZBTB4 c.11delC p.P4fs*4 Deletion - Frameshift Biliary_tract COSM5414467 L3MBTL4 c.620C>T p.S207F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM228110 KMT2C c.1042G>A p.D348N Substitution - Missense Soft_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5455031 CBX7 c.739C>A p.R247S Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3365416 PBRM1 c.28T>A p.S10T Substitution - Missense Kidney COSM1479304 RAI1 c.832_834delCAG p.Q291delQ Deletion - In frame Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM69111 WHSC1 c.385delA p.T129fs*5 Deletion - Frameshift Ovary COSM4809210 ARID1A c.647A>C p.Y216S Substitution - Missense Pancreas COSM5367707 PHF3 c.1728_1729insA p.T579fs*20 Insertion - Frameshift Large_intestine COSM3618485 BRD9 c.1058G>C p.G353A Substitution - Missense Skin COSM4159761 NSD1 c.6903G>C p.G2301G Substitution - coding silent Soft_tissue COSM731365 MINA c.1362C>A p.S454S Substitution - coding silent Lung COSM4018319 KMT2A c.6263A>G p.E2088G Substitution - Missense Stomach COSM4689580 HCFC1 c.3862A>G p.R1288G Substitution - Missense Large_intestine COSM4054831 TP53BP1 c.5291-2A>G p.? Unknown Stomach COSM4988725 SP140_ENST00000392045 c.2593G>C p.G865R Substitution - Missense Soft_tissue COSM4874420 CHD4 c.3293G>A p.G1098D Substitution - Missense Endometrium COSM1677803 ING1 c.740C>A p.P247H Substitution - Missense Ovary COSM4118102 SMARCC1 c.440G>A p.R147H Substitution - Missense Stomach COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5957561 ADNP c.2107C>T p.P703S Substitution - Missense Thyroid COSM3597973 SETD5_ENST00000402198 c.2416C>T p.Q806* Substitution - Nonsense Skin COSM41848 TET2 c.? p.G1275E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3663861 PRDM14 c.613G>A p.V205I Substitution - Missense Liver COSM318939 BRD1 c.1407G>T p.K469N Substitution - Missense Lung COSM5557829 EP400 c.6770A>G p.K2257R Substitution - Missense Prostate COSM1745410 KDM6A c.3886_3895del10 p.L1297fs*1 Deletion - Frameshift Urinary_tract COSM159177 ARID2 c.3859G>A p.E1287K Substitution - Missense Salivary_gland COSM5026757 BAZ1B c.4375G>C p.D1459H Substitution - Missense Breast COSM5821077 TRIM66 c.3187A>T p.S1063C Substitution - Missense Liver COSM3942505 ATAD2 c.419A>C p.Q140P Substitution - Missense Oesophagus COSM4429366 EP400 c.1931_1932insT p.M644fs*47 Insertion - Frameshift Oesophagus COSM5064885 ATRX c.4981C>T p.R1661C Substitution - Missense Stomach COSM3360130 TDRD3 c.750C>T p.G250G Substitution - coding silent Kidney COSM1328129 PHF7 c.750C>A p.A250A Substitution - coding silent Ovary COSM1724609 PHF8 c.2383_2385delGAG p.E795delE Deletion - In frame Large_intestine COSM2834918 CHD9 c.6308G>A p.R2103H Substitution - Missense Large_intestine COSM164494 SMYD1 c.1074G>A p.S358S Substitution - coding silent Breast COSM683250 TDRD1 c.1644T>C p.C548C Substitution - coding silent Lung COSM22851 ARID4A c.8C>T p.A3V Substitution - Missense Lung COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Biliary_tract COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM110127 ERCC6 c.756C>T p.I252I Substitution - coding silent Skin COSM87104 TET2 c.2474C>G p.S825* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM110819 BAP1 c.999_1050del52 p.V335fs*10 Deletion - Frameshift Skin COSM111457 ATRX c.3976delT p.S1326fs*20 Deletion - Frameshift Ovary COSM124650 MYST3 c.3455G>T p.W1152L Substitution - Missense Upper_aerodigestive_tract COSM130413 ARID1A c.2830C>T p.Q944* Substitution - Nonsense Breast COSM146944 JMJD1C c.890C>G p.T297S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM166530 DNMT3A c.1513G>T p.E505* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM218987 SMARCA2 c.2759C>T p.T920I Substitution - Missense Pancreas COSM206572 TDRD10 c.965C>T p.S322L Substitution - Missense Large_intestine COSM227525 KMT2C c.2294A>G p.E765G Substitution - Missense Upper_aerodigestive_tract COSM241241 PRDM2 c.3832T>A p.S1278T Substitution - Missense Prostate COSM254544 ARID1A c.5221C>T p.Q1741* Substitution - Nonsense Stomach COSM254833 MYST1 c.419G>A p.R140H Substitution - Missense Central_nervous_system COSM255016 KDM6A c.1105C>T p.Q369* Substitution - Nonsense Urinary_tract COSM253036 NIPBL c.7894_7896delGAA p.E2632delE Deletion - In frame Ovary COSM255469 KDM3A c.2012A>G p.N671S Substitution - Missense Central_nervous_system COSM286729 ZMYND8 c.2121G>T p.K707N Substitution - Missense Large_intestine COSM298352 HDAC4 c.2102_2103delTC p.I701fs*35 Deletion - Frameshift Large_intestine COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Large_intestine COSM321962 NCOA1 c.611C>A p.P204Q Substitution - Missense Lung COSM355096 DOT1L c.2033C>T p.A678V Substitution - Missense Lung COSM350938 BRPF1 c.58C>T p.P20S Substitution - Missense Lung COSM361563 RAG2 c.349A>G p.N117D Substitution - Missense Lung COSM379604 GTF3C1 c.33C>T p.V11V Substitution - coding silent Lung COSM396132 PRDM9 c.2148G>A p.G716G Substitution - coding silent Lung COSM419519 TCF20 c.1679C>T p.P560L Substitution - Missense Thyroid COSM428501 KMT2A c.9134A>C p.K3045T Substitution - Missense Breast COSM433815 INOC1 c.4322C>T p.A1441V Substitution - Missense Breast COSM1691148 MBD5 c.3652C>T p.H1218Y Substitution - Missense Skin COSM918665 ERCC6 c.2198T>C p.V733A Substitution - Missense Endometrium COSM693059 ATF7IP c.3118A>G p.T1040A Substitution - Missense Lung COSM694499 SMARCC2 c.2370C>G p.T790T Substitution - coding silent Lung COSM1051181 PHF17 c.1317T>G p.A439A Substitution - coding silent Endometrium COSM940048 KMT2D c.6175G>A p.A2059T Substitution - Missense Endometrium COSM743363 PHF3 c.2227C>T p.H743Y Substitution - Missense Skin COSM757232 KDM6A c.2833-2A>G p.? Unknown Lung COSM910296 RAD54L c.702C>T p.L234L Substitution - coding silent Endometrium COSM908647 ZMYM1 c.2836G>A p.D946N Substitution - Missense Skin COSM896928 ASH1L c.3962G>A p.R1321Q Substitution - Missense Endometrium COSM896928 ASH1L c.3962G>A p.R1321Q Substitution - Missense Endometrium COSM1101408 NCOA2 c.3742C>T p.R1248* Substitution - Nonsense Prostate COSM1236367 SHPRH c.3907C>T p.R1303* Substitution - Nonsense Autonomic_ganglia COSM1162748 BRD9 c.928A>T p.M310L Substitution - Missense Upper_aerodigestive_tract COSM1263592 PWWP2B c.836C>T p.P279L Substitution - Missense Stomach COSM1301105 RTF1 c.136T>A p.S46T Substitution - Missense Urinary_tract COSM1289066 ZMYM1 c.898G>T p.E300* Substitution - Nonsense Autonomic_ganglia COSM1320009 SETDB1 c.615G>C p.L205L Substitution - coding silent Ovary COSM1318616 TET2 c.4141_4142insG p.A1381fs*20 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1380024 CDYL2 c.114G>A p.T38T Substitution - coding silent Large_intestine COSM1388495 ASXL3 c.180C>A p.F60L Substitution - Missense Large_intestine COSM1406106 SP140 c.412T>G p.L138V Substitution - Missense Large_intestine COSM1427324 SMARCA5 c.3118G>A p.A1040T Substitution - Missense Central_nervous_system COSM1425757 SETD5_ENST00000402198 c.4159C>T p.R1387W Substitution - Missense Large_intestine COSM1407046 NCOA1 c.1948A>G p.I650V Substitution - Missense Large_intestine COSM1426221 TET2 c.5831C>T p.S1944F Substitution - Missense Large_intestine COSM1569568 PRDM14 c.1650C>A p.I550I Substitution - coding silent Large_intestine COSM1492283 SUV39H2 c.459T>A p.N153K Substitution - Missense Kidney COSM1469494 ATRX c.326A>C p.N109T Substitution - Missense Large_intestine COSM1474749 SFMBT2 c.227C>G p.P76R Substitution - Missense Breast COSM1614612 ATAD2B_ENST00000238789 c.68C>T p.P23L Substitution - Missense Liver COSM1617695 SMARCC1 c.1687C>T p.P563S Substitution - Missense Liver COSM1628610 ARID2 c.1928C>A p.S643* Substitution - Nonsense Liver COSM1641550 CBX6 c.500G>A p.R167Q Substitution - Missense Stomach COSM1682302 TCF20 c.2671G>C p.D891H Substitution - Missense Prostate COSM1753138 KAT2B c.1844G>T p.G615V Substitution - Missense Urinary_tract COSM1734409 CREBBP c.2925delC p.S976fs*22 Deletion - Frameshift Skin COSM2263331 ING1 c.494A>C p.N165T Substitution - Missense Large_intestine COSM2235506 ARID1A c.3831G>A p.Q1277Q Substitution - coding silent Large_intestine COSM2783400 ATXN7 c.1396G>A p.A466T Substitution - Missense Large_intestine COSM2874597 NCOA2 c.2808C>T p.S936S Substitution - coding silent Large_intestine COSM3172762 L3MBTL3 c.426T>C p.N142N Substitution - coding silent Large_intestine COSM3296117 MBD5 c.1120G>A p.V374I Substitution - Missense Upper_aerodigestive_tract COSM3347143 EHMT2 c.2680C>T p.R894C Substitution - Missense Large_intestine COSM3388141 ZBTB4 c.2769G>A p.P923P Substitution - coding silent Pancreas COSM3444009 KMT2A c.9359C>T p.S3120L Substitution - Missense Skin COSM3415860 ALKBH3 c.486G>A p.K162K Substitution - coding silent Large_intestine COSM3416580 SETD8 c.751G>A p.E251K Substitution - Missense Large_intestine COSM3622267 ARID1B c.2346C>G p.Y782* Substitution - Nonsense Skin COSM3624505 TCF19 c.721C>T p.P241S Substitution - Missense Skin COSM3629183 PHF3 c.5387C>T p.S1796L Substitution - Missense Skin COSM3547339 EYA2 c.1077C>T p.A359A Substitution - coding silent Skin COSM3528429 SMARCA4 c.2877G>A p.E959E Substitution - coding silent Skin COSM3529598 BRD4 c.1124C>T p.P375L Substitution - Missense Skin COSM3655412 BRD3 c.855C>T p.P285P Substitution - coding silent Skin COSM3691903 CHD3 c.1206C>A p.H402Q Substitution - Missense Large_intestine COSM3694109 PHF21B c.805C>T p.R269W Substitution - Missense Large_intestine COSM3665504 TDRD1 c.3249T>C p.N1083N Substitution - coding silent Liver COSM3701221 EZH1 c.418A>G p.K140E Substitution - Missense Liver COSM3728410 ARID1B c.1765G>A p.G589R Substitution - Missense Breast COSM3756114 SMCHD1 c.1872A>G p.T624T Substitution - coding silent Large_intestine COSM3817816 SRCAP c.828A>C p.P276P Substitution - coding silent Breast COSM3842759 EP300 c.1349C>T p.A450V Substitution - Missense Breast COSM3845396 ATRX c.5718T>C p.S1906S Substitution - coding silent Stomach COSM3888286 GTF3C1 c.4837G>A p.E1613K Substitution - Missense Skin COSM3888410 SRCAP c.2391C>T p.F797F Substitution - coding silent Skin COSM3952568 EHMT1 c.3603C>T p.I1201I Substitution - coding silent Lung COSM4016608 BTAF1 c.4989T>C p.D1663D Substitution - coding silent Stomach COSM4040302 EP400 c.8746G>A p.A2916T Substitution - Missense Stomach COSM4085887 BAZ2B c.3301C>T p.R1101* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4085346 MBD5 c.2743A>T p.N915Y Substitution - Missense Stomach COSM4092237 SP110 c.1550A>G p.N517S Substitution - Missense Stomach COSM4120701 MINA c.640G>A p.E214K Substitution - Missense Stomach COSM4076307 DOT1L c.2218G>A p.A740T Substitution - Missense Stomach COSM4156915 PHF8 c.2581C>T p.R861C Substitution - Missense Thyroid COSM4161255 TDRD6 c.599T>G p.V200G Substitution - Missense Upper_aerodigestive_tract COSM4155273 PHF3 c.2648T>A p.V883D Substitution - Missense Kidney COSM4170158 TET2 c.4521delG p.A1508fs*63 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4403971 CLOCK c.475C>T p.P159S Substitution - Missense Skin COSM4415207 BAZ2A c.52A>G p.R18G Substitution - Missense Large_intestine COSM4428336 TRRAP c.520G>C p.E174Q Substitution - Missense Oesophagus COSM4429461 PRDM5 c.301-3C>T p.? Unknown Oesophagus COSM4510536 TBL1XR1 c.840C>T p.F280F Substitution - coding silent Skin COSM4481841 JMJD1C c.1892C>T p.P631L Substitution - Missense Skin COSM4421732 MLL5 c.4730C>A p.S1577Y Substitution - Missense Pleura COSM4736062 TRIM33 c.1232A>G p.H411R Substitution - Missense Large_intestine COSM4689695 HDAC6 c.3572A>G p.H1191R Substitution - Missense Large_intestine COSM4694049 KAT5 c.815G>A p.R272Q Substitution - Missense Large_intestine COSM4641378 KAT6B c.6111A>G p.P2037P Substitution - coding silent Large_intestine COSM4655147 ZMYM3 c.2865T>G p.L955L Substitution - coding silent Large_intestine COSM4767332 HDAC7 c.1769G>A p.G590D Substitution - Missense Stomach COSM4771939 PRMT6 c.931G>C p.D311H Substitution - Missense Stomach COSM4795561 PRDM16 c.209C>T p.A70V Substitution - Missense Liver COSM4792938 BAZ1B c.24G>T p.K8N Substitution - Missense Liver COSM4788800 MORF4L1 c.1035C>T p.F345F Substitution - coding silent Liver COSM4915260 TRIM66 c.1048C>A p.P350T Substitution - Missense Liver COSM4927047 WHSC1 c.2699A>G p.H900R Substitution - Missense Liver COSM4827172 ARID1A c.1831C>T p.Q611* Substitution - Nonsense Cervix COSM4832949 NCOA6 c.1707G>C p.Q569H Substitution - Missense Cervix COSM5017289 KMT2C c.11099delC p.A3700fs*5 Deletion - Frameshift Kidney COSM5365012 DNMT1 c.3235G>A p.G1079S Substitution - Missense Large_intestine COSM5387106 BPTF c.7903delA p.K2635fs*11 Deletion - Frameshift Skin COSM5360766 KMT2A c.5878C>T p.R1960* Substitution - Nonsense Large_intestine COSM5356900 PHF15 c.2359G>A p.V787I Substitution - Missense Large_intestine COSM5431066 ZMYM2 c.3725C>T p.T1242I Substitution - Missense Oesophagus COSM5440579 SETD1B c.2341G>C p.E781Q Substitution - Missense Oesophagus COSM5443694 HDAC5 c.1345C>A p.L449M Substitution - Missense Oesophagus COSM5454180 AICDA c.169G>T p.V57L Substitution - Missense Large_intestine COSM5757549 SMC1A c.615+1G>A p.? Unknown Large_intestine COSM5727288 BTAF1 c.3202G>A p.G1068R Substitution - Missense Skin COSM5656657 HCFC2 c.1084C>G p.Q362E Substitution - Missense Soft_tissue COSM5662183 SUZ12 c.1658A>C p.Q553P Substitution - Missense Soft_tissue COSM5565422 SIRT6 c.872G>C p.R291P Substitution - Missense Prostate COSM5784359 SMARCC2 c.747T>C p.N249N Substitution - coding silent Breast COSM5794787 BRWD3 c.937G>C p.E313Q Substitution - Missense Breast COSM5810348 RAG2 c.1001A>T p.D334V Substitution - Missense Liver COSM5945239 KDM5A c.1936G>T p.E646* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5893279 ASH2L c.1105C>T p.P369S Substitution - Missense Skin COSM5893601 PHRF1 c.621-7C>T p.? Unknown Skin COSM5910887 PRDM7 c.85C>T p.P29S Substitution - Missense Skin COSM5964327 MYST2 c.652G>A p.D218N Substitution - Missense Breast COSM5999025 TRDMT1 c.667T>G p.S223A Substitution - Missense Prostate COSM5985262 KMT2C c.13751G>A p.R4584Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM1735695 KMT2C c.? p.P1542S Substitution - Missense Skin COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM4169300 ARID1A c.? p.A88fs*23 Unknown Biliary_tract COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5881447 ARID1A c.? p.R1950Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM6019338 KDM5C c.? p.? Unknown Ovary COSM5546941 HCFC1 c.181_189delGAGGACCCA p.E61_P63delEDP Deletion - In frame Prostate COSM1067697 NIPBL c.5538T>C p.A1846A Substitution - coding silent Endometrium COSM379475 KIAA2026_ENST00000399933 c.6252G>A p.A2084A Substitution - coding silent Lung COSM4606247 TDRD3 c.438+10C>T p.? Unknown Upper_aerodigestive_tract COSM3214110 BRD3 c.1785A>T p.V595V Substitution - coding silent Oesophagus COSM920540 KAT6B c.5836C>T p.R1946C Substitution - Missense Endometrium COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM1045473 SETD2 c.2923G>T p.E975* Substitution - Nonsense Endometrium COSM3759496 KDM6A c.2177C>A p.T726K Substitution - Missense Soft_tissue COSM5791620 ACTR6 c.288T>G p.T96T Substitution - coding silent Breast COSM4418905 KAT2B c.309G>T p.E103D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM314668 RAG2 c.1496delA p.K499fs*4 Deletion - Frameshift Stomach COSM5650547 TDRKH c.1466A>G p.K489R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4766062 SMARCB1 c.147_150delACTC p.L50fs*4 Deletion - Frameshift Soft_tissue COSM4039395 SIRT4 c.903T>C p.N301N Substitution - coding silent Stomach COSM1309599 INTS12 c.1347G>A p.Q449Q Substitution - coding silent Urinary_tract COSM277586 TAF1L c.2534G>A p.R845Q Substitution - Missense Skin COSM4962838 BAZ2A c.3482A>G p.Y1161C Substitution - Missense Pancreas COSM284132 POLE3 c.181C>T p.R61W Substitution - Missense Large_intestine COSM3765446 SMARCA2 c.2648C>T p.P883L Substitution - Missense Central_nervous_system COSM1114813 SMARCA1 c.668G>A p.G223D Substitution - Missense Stomach COSM2160708 SFMBT2 c.933G>A p.M311I Substitution - Missense Large_intestine COSM947875 SETDB2 c.1196G>A p.R399K Substitution - Missense Endometrium COSM4384654 KDM5A c.3442A>G p.N1148D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5415245 KMT2C c.13784G>A p.R4595H Substitution - Missense Endometrium COSM5656319 CREBBP c.5034_5036delCTC p.S1680delS Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM5361325 KMT2D c.5784delC p.Y1929fs*65 Deletion - Frameshift Large_intestine COSM4620395 ZMYND8 c.2927G>A p.R976Q Substitution - Missense Large_intestine COSM3509547 CREBBP c.7281C>T p.V2427V Substitution - coding silent Skin COSM707223 ZBTB4 c.1189A>T p.S397C Substitution - Missense Lung COSM5985258 JHDM1D c.2324G>A p.S775N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3710581 ATF7IP c.665G>C p.G222A Substitution - Missense Upper_aerodigestive_tract COSM1179047 ATRX c.3073A>G p.I1025V Substitution - Missense Prostate COSM3731429 SMARCC2 c.3128_3129insC p.G1044fs*33 Insertion - Frameshift Large_intestine COSM4042125 HDAC7 c.1984G>A p.A662T Substitution - Missense Stomach COSM4839752 BAZ2B c.4615T>G p.F1539V Substitution - Missense Cervix COSM3424178 CBX6 c.210G>T p.K70N Substitution - Missense Large_intestine COSM4131003 MBD1 c.1369G>T p.V457L Substitution - Missense Thyroid COSM3525420 ASXL3 c.493G>A p.V165I Substitution - Missense Skin COSM5060966 NSD1 c.6047C>T p.A2016V Substitution - Missense Stomach COSM3906848 TAF1L c.1985T>A p.I662N Substitution - Missense Stomach COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM4839760 TAF1L c.2335A>C p.T779P Substitution - Missense Cervix COSM4840109 BPTF c.3913G>T p.D1305Y Substitution - Missense Cervix COSM3091901 SMARCA2 c.3637C>T p.R1213W Substitution - Missense Large_intestine COSM1368977 CHD8 c.7112delA p.N2371fs*6 Deletion - Frameshift Large_intestine COSM24290 MGA c.4172A>T p.Y1391F Substitution - Missense Upper_aerodigestive_tract COSM5715994 MORF4L2 c.660C>T p.S220S Substitution - coding silent Skin COSM4563308 RAG2 c.967G>A p.G323R Substitution - Missense Skin COSM3390701 KDM5C c.1622C>T p.A541V Substitution - Missense Pancreas COSM1616067 BRWD1 c.4455T>G p.A1485A Substitution - coding silent Liver COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM3764382 KDM2B c.658G>A p.A220T Substitution - Missense Central_nervous_system COSM4971799 ATRX c.562A>T p.R188* Substitution - Nonsense Central_nervous_system COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM1715179 ATRX c.2095G>A p.D699N Substitution - Missense Skin COSM4987999 HDAC4 c.2432G>A p.G811D Substitution - Missense Soft_tissue COSM5986519 KMT2D c.7253_7254insCCAGT p.E2418fs*5 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM675751 ASH1L c.3414A>G p.L1138L Substitution - coding silent Lung COSM1025777 DNMT3B c.204+1G>A p.? Unknown Endometrium COSM3627954 TDRD6 c.1867A>T p.T623S Substitution - Missense Skin COSM1378312 CHD9 c.2274delT p.F760fs*16 Deletion - Frameshift Large_intestine COSM6003166 CBX2 c.402C>T p.P134P Substitution - coding silent Prostate COSM1025719 ASXL1 c.473C>T p.A158V Substitution - Missense Bone COSM4002744 PBRM1 c.4335A>G p.P1445P Substitution - coding silent Soft_tissue COSM4490068 KDM6A c.3575C>T p.S1192F Substitution - Missense Skin COSM1290799 SMCHD1 c.187G>A p.V63I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5380333 SMYD3 c.511G>A p.E171K Substitution - Missense Skin COSM5990300 PRDM12 c.682+7G>C p.? Unknown Liver COSM150428 KMT2C c.2958A>G p.P986P Substitution - coding silent Soft_tissue COSM907723 ARID1A c.4003C>T p.R1335* Substitution - Nonsense Endometrium COSM5890789 SETDB2 c.953C>T p.S318F Substitution - Missense Skin COSM4080525 KDM4B c.2755G>A p.V919M Substitution - Missense Stomach COSM5423947 MLL5 c.1604_1605delTA p.V537fs*3 Deletion - Frameshift Prostate COSM3750192 PHF2 c.2964G>T p.P988P Substitution - coding silent Large_intestine COSM1236638 MECOM c.1124G>A p.R375K Substitution - Missense Autonomic_ganglia COSM4621890 KAT6B c.2622T>C p.I874I Substitution - coding silent Large_intestine COSM4775881 BAZ2B c.2375G>T p.R792I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM94440 HDAC1 c.1094G>A p.R365Q Substitution - Missense Breast COSM5017199 JMJD5 c.224C>T p.S75F Substitution - Missense Kidney COSM6003893 TRIM28 c.2205T>C p.G735G Substitution - coding silent Prostate COSM1738263 TAF1 c.4325G>A p.R1442Q Substitution - Missense Ovary COSM4945474 SETD5_ENST00000402198 c.346A>G p.K116E Substitution - Missense Liver COSM4689176 GTF3C1 c.5954G>A p.R1985Q Substitution - Missense Large_intestine COSM1611156 SMCHD1 c.851G>A p.R284H Substitution - Missense Bone COSM5893065 NSD1 c.3132C>A p.N1044K Substitution - Missense Skin COSM3793941 SMEK1 c.1465G>A p.D489N Substitution - Missense Urinary_tract COSM221081 KMT2D c.7917_7920delAAGT p.S2640fs*32 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM133129 DNMT3A c.1055G>A p.S352N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3474774 PYGO2 c.426C>T p.G142G Substitution - coding silent Skin COSM897121 LMNA c.1699G>T p.G567C Substitution - Missense Endometrium COSM1123279 PHF8 c.489C>A p.T163T Substitution - coding silent Endometrium COSM726777 BRD1 c.520A>T p.K174* Substitution - Nonsense Lung COSM346337 HNF1A c.138G>C p.K46N Substitution - Missense Lung COSM1025779 DNMT3B c.211A>G p.T71A Substitution - Missense Endometrium COSM4448107 BAHCC1 c.370C>T p.P124S Substitution - Missense Skin COSM41113 SP100 c.1805A>T p.Q602L Substitution - Missense Central_nervous_system COSM4036886 RSF1 c.2105A>G p.Q702R Substitution - Missense Stomach COSM119963 JMJD6 c.22C>A p.R8S Substitution - Missense Ovary COSM979415 KAT2A c.1577T>C p.V526A Substitution - Missense Endometrium COSM1163181 CHD3 c.4778T>C p.M1593T Substitution - Missense Pancreas COSM4383951 TET2 c.4497_4500delAAAA p.Q1501fs*69 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM323318 SHPRH c.1394A>G p.Y465C Substitution - Missense Liver COSM4125213 CLOCK c.1588T>G p.L530V Substitution - Missense Stomach COSM1285295 GTF3C4 c.1758G>C p.Q586H Substitution - Missense Autonomic_ganglia COSM1666635 MSH6 c.? p.W456* Substitution - Nonsense Ovary COSM308286 KMT2C c.13580T>C p.V4527A Substitution - Missense Biliary_tract COSM1072932 NCOA7 c.1625A>C p.K542T Substitution - Missense Endometrium COSM3563517 ATRX c.2604G>A p.L868L Substitution - coding silent Skin COSM1283675 BPTF c.7568G>A p.R2523H Substitution - Missense Large_intestine COSM3799619 ZMYND8 c.407G>T p.R136I Substitution - Missense Urinary_tract COSM5458575 CTCF c.1698T>C p.R566R Substitution - coding silent Large_intestine COSM971417 CHD9 c.2507G>A p.R836H Substitution - Missense Oesophagus COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3687657 RSF1 c.10G>A p.A4T Substitution - Missense Large_intestine COSM5020672 KDM5A c.2423A>T p.H808L Substitution - Missense Soft_tissue COSM1601636 SMYD2 c.1143G>A p.V381V Substitution - coding silent Liver COSM5473611 BAHD1 c.422C>T p.A141V Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4623755 ASXL3 c.1077G>T p.E359D Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4748494 MUM1 c.466T>C p.C156R Substitution - Missense Stomach COSM3410541 HDAC2 c.1016G>A p.G339E Substitution - Missense Central_nervous_system COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3508970 SETD1A c.931C>T p.R311C Substitution - Missense Skin COSM220497 CREBBP c.4496T>A p.L1499Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM738850 CHD1 c.2059C>A p.H687N Substitution - Missense Lung COSM3153139 EP300 c.3602G>A p.C1201Y Substitution - Missense Upper_aerodigestive_tract COSM4769280 DNMT3A c.195G>T p.T65T Substitution - coding silent Biliary_tract COSM3153139 EP300 c.3602G>A p.C1201Y Substitution - Missense Central_nervous_system COSM1679187 CTCF c.1097T>G p.L366* Substitution - Nonsense Large_intestine COSM85913 IKZF1 c.1-?_160+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1241349 KIAA1045 c.86G>A p.R29Q Substitution - Missense Oesophagus COSM307762 TET2 c.? p.Y867H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1673703 KMT2C c.10628G>A p.S3543N Substitution - Missense Large_intestine COSM1025723 ASXL1 c.1423G>A p.D475N Substitution - Missense Endometrium COSM3515943 SUZ12 c.619C>T p.P207S Substitution - Missense Skin COSM1158531 BRD8 c.2035C>G p.Q679E Substitution - Missense Pancreas COSM4052632 ALKBH1 c.475C>T p.R159W Substitution - Missense Stomach COSM3713936 BRWD3 c.3352G>T p.G1118C Substitution - Missense Upper_aerodigestive_tract COSM3505523 CHD2 c.1453C>T p.R485* Substitution - Nonsense Skin COSM4788368 KIAA2026_ENST00000399933 c.3563C>T p.S1188L Substitution - Missense Liver COSM3706114 YY1 c.228C>T p.H76H Substitution - coding silent Liver COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Prostate COSM51972 BAP1 c.382G>C p.G128R Substitution - Missense Eye COSM133568 ASXL1 c.1779_1780insA p.C594fs*25 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM133026 ARID1A c.6287C>G p.S2096* Substitution - Nonsense Pancreas COSM4552249 EYA4 c.553G>A p.G185R Substitution - Missense Skin COSM5809373 TRRAP c.6289G>A p.A2097T Substitution - Missense Liver COSM4827036 CBX1 c.142G>C p.E48Q Substitution - Missense Cervix COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4516234 HDAC6 c.1717_1718CC>TT p.P573F Substitution - Missense Skin COSM100082 KMT2C c.8390_8390delA p.K2797fs*26 Deletion - Frameshift Large_intestine COSM144567 PHF6 c.820C>T p.R274* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1083 SMARCB1 c.?_?del? p.?del Deletion - In frame Soft_tissue COSM3473722 TDRKH c.394C>T p.P132S Substitution - Missense Skin COSM3567476 EPC2 c.2261C>T p.S754L Substitution - Missense Stomach COSM144160 SMARCB1 c.1147_1147delC p.P383fs Deletion - Frameshift Central_nervous_system COSM2154376 PRDM16 c.1110C>A p.D370E Substitution - Missense Central_nervous_system COSM3694207 HCFC1 c.2432C>T p.T811M Substitution - Missense Stomach COSM3853970 NSD1 c.5199C>T p.C1733C Substitution - coding silent Stomach COSM3707012 SETD1A c.2739T>A p.R913R Substitution - coding silent Liver COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5554783 BRWD3 c.5143G>A p.G1715S Substitution - Missense Prostate COSM1365143 ACTR6 c.936delT p.F314fs*6 Deletion - Frameshift Stomach COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1604307 PRDM10 c.2215-6C>G p.? Unknown Liver COSM686165 KMT2A c.7838A>G p.K2613R Substitution - Missense Lung COSM3048298 SP110 c.9C>T p.T3T Substitution - coding silent Skin COSM3786225 MTA1 c.1917C>T p.S639S Substitution - coding silent Pancreas COSM5513463 SMARCA4 c.355+2T>C p.? Unknown Biliary_tract COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5700913 PHF14 c.1620G>T p.R540R Substitution - coding silent Soft_tissue COSM3831984 TIF1 c.2899C>G p.L967V Substitution - Missense Breast COSM3369597 ACTA1 c.225C>T p.H75H Substitution - coding silent Large_intestine COSM1074217 SHPRH c.783A>C p.E261D Substitution - Missense Endometrium COSM1318925 DNMT3A c.1490G>A p.C497Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4663985 ATF7IP c.1160C>G p.S387C Substitution - Missense Large_intestine COSM1061244 BRD8 c.1177G>T p.E393* Substitution - Nonsense Endometrium COSM3861467 ATAT1 c.958C>T p.R320C Substitution - Missense Stomach COSM5021464 BRD9 c.983+9C>T p.? Unknown Oesophagus COSM941549 SMARCC2 c.2839C>T p.R947W Substitution - Missense Large_intestine COSM4846353 TAF1L c.697G>A p.G233R Substitution - Missense Cervix COSM2080017 ZMYM6 c.1669G>A p.A557T Substitution - Missense Large_intestine COSM4899495 NSD1 c.1377C>T p.D459D Substitution - coding silent Skin COSM4134431 ASXL1 c.1169G>T p.G390V Substitution - Missense Thyroid COSM2007422 KMT2D c.1213C>T p.Q405* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4660684 AIRE c.1383C>T p.A461A Substitution - coding silent Large_intestine COSM1103001 TDRD7 c.616A>G p.T206A Substitution - Missense Endometrium COSM1131424 SETD2 c.1184T>G p.L395W Substitution - Missense Prostate COSM3984293 ASH1L c.8094C>T p.R2698R Substitution - coding silent Kidney COSM5045014 KDM6A c.1_4206del4206 p.0? Whole gene deletion Central_nervous_system COSM5731000 KMT2D c.7217_7218delAG p.E2406fs*47 Deletion - Frameshift Breast COSM5350590 PHF20 c.1279G>T p.E427* Substitution - Nonsense Lung COSM1255164 JMJD5 c.808G>A p.V270I Substitution - Missense Oesophagus COSM4824290 CHD6 c.7258C>T p.L2420F Substitution - Missense Cervix COSM244329 EYA1 c.1702G>A p.A568T Substitution - Missense Endometrium COSM100048 PRDM1 c.1565_1665+144del245 p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4991484 SMARCB1 c.663C>T p.I221I Substitution - coding silent Skin COSM1739050 GABRG1 c.70G>C p.V24L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4556251 PRDM2 c.684G>A p.Q228Q Substitution - coding silent Skin COSM4603966 KMT2C c.162-7_162-6insT p.? Unknown Upper_aerodigestive_tract COSM2006923 KMT2D c.9672G>A p.P3224P Substitution - coding silent Prostate COSM4802290 KDM5D c.2502G>T p.Q834H Substitution - Missense Liver COSM302471 KDM6A c.3154_3155insA p.R1054fs*5 Insertion - Frameshift Breast COSM2007015 KMT2D c.7588C>T p.Q2530* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM309531 BRPF3 c.1921C>T p.R641W Substitution - Missense Lung COSM3412541 TRRAP c.3479G>T p.G1160V Substitution - Missense Central_nervous_system COSM3839613 MSH6 c.2977G>A p.E993K Substitution - Missense Breast COSM4110236 PHF8 c.1216G>T p.A406S Substitution - Missense Stomach COSM3594794 SMARCC1 c.1660C>T p.P554S Substitution - Missense Skin COSM3398238 ACTR6 c.289G>A p.E97K Substitution - Missense Central_nervous_system COSM4040298 EP400 c.8252C>T p.T2751M Substitution - Missense Stomach COSM1616093 PRDM15 c.2026C>A p.P676T Substitution - Missense Liver COSM3457165 KDM2B c.2562C>T p.I854I Substitution - coding silent Skin COSM4405892 PHF21A c.1329T>G p.D443E Substitution - Missense Skin COSM277620 TBL1XR1 c.683T>C p.V228A Substitution - Missense Large_intestine COSM5014596 BRPF3 c.1495T>G p.F499V Substitution - Missense Kidney COSM1734585 NCOA5 c.1359delC p.S454fs*69 Deletion - Frameshift Large_intestine COSM1580706 CHD3 c.1432T>C p.Y478H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1749705 CTCF c.1231A>G p.I411V Substitution - Missense Urinary_tract COSM1317542 PRDM16 c.1762G>A p.V588M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5697913 BRWD1 c.1882A>G p.T628A Substitution - Missense Soft_tissue COSM3370953 CHD3 c.1530G>C p.Q510H Substitution - Missense Thyroid COSM1124918 TAF1 c.5332A>C p.S1778R Substitution - Missense Endometrium COSM269124 EZH1 c.2054T>A p.I685N Substitution - Missense Large_intestine COSM24920 HNF1A c.814C>A p.R272S Substitution - Missense Lung COSM1491083 SMC1A c.1414G>T p.E472* Substitution - Nonsense Breast COSM4837779 KMT2C c.12340G>A p.E4114K Substitution - Missense Cervix COSM4611936 DIDO1 c.1715_1717delCTT p.S572delS Deletion - In frame Large_intestine COSM445042 EP300 c.5553T>C p.T1851T Substitution - coding silent Skin COSM1667117 RERE c.4130A>G p.E1377G Substitution - Missense Large_intestine COSM5990852 ARID1B c.75_76ins21 p.H41_L42insHHHHAHH Insertion - In frame Prostate COSM269346 IDH2 c.1322T>C p.I441T Substitution - Missense Large_intestine COSM957517 ARID1A c.? p.Q1415fs*? Unknown Ovary COSM258104 STK31 c.2873G>C p.R958T Substitution - Missense Large_intestine COSM5916984 ASH1L c.5240C>T p.S1747F Substitution - Missense Skin COSM3781610 ARID1B c.768C>A p.G256G Substitution - coding silent Prostate COSM170344 ASH1L c.6217C>T p.R2073C Substitution - Missense Skin COSM3758148 NCOA1 c.3814C>T p.P1272S Substitution - Missense Large_intestine COSM3947829 CHD1 c.1573C>T p.H525Y Substitution - Missense Lung COSM1636290 PHF2 c.952+10G>T p.? Unknown Liver COSM199165 TRRAP c.10456C>T p.R3486W Substitution - Missense Large_intestine COSM5957833 PRDM12 c.1040_1041insCGC p.A359_H360insA Insertion - In frame Thyroid COSM3923204 KMT2C c.2905G>A p.G969R Substitution - Missense Skin COSM3964428 HDAC10 c.1570G>A p.G524R Substitution - Missense Lung COSM4409214 ACTL6B c.467+1G>A p.? Unknown Oesophagus COSM3108648 JMJD5 c.756C>T p.L252L Substitution - coding silent Cervix COSM1093710 TRRAP c.9876C>T p.I3292I Substitution - coding silent Endometrium COSM3973877 ATRX c.6545A>G p.K2182R Substitution - Missense Central_nervous_system COSM923575 KMT2A c.3451C>T p.R1151* Substitution - Nonsense Endometrium COSM5521031 ACTA1 c.634C>A p.R212S Substitution - Missense Biliary_tract COSM1569567 PRDM14 c.1233C>T p.Y411Y Substitution - coding silent Large_intestine COSM2007209 KMT2D c.4030C>T p.R1344W Substitution - Missense Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4441669 PHF12 c.2961G>T p.K987N Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4728351 SMARCD1 c.962G>A p.R321Q Substitution - Missense Large_intestine COSM3554884 EP300 c.1897C>T p.L633L Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4031013 ARID1A c.3793G>A p.G1265S Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3524763 SMCHD1 c.3652C>T p.R1218C Substitution - Missense Skin COSM1124892 TAF1 c.2605C>T p.R869C Substitution - Missense Endometrium COSM2797805 BPTF c.5535T>C p.I1845I Substitution - coding silent Large_intestine COSM3728474 PRDM5 c.229C>T p.R77W Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5566310 KMT2D c.14710C>T p.R4904W Substitution - Missense Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5665295 CHD1 c.1274A>T p.D425V Substitution - Missense Soft_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM725147 BRWD1 c.267G>T p.L89F Substitution - Missense Lung COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1283598 ATRX c.6563G>A p.R2188Q Substitution - Missense Central_nervous_system COSM3931305 RAG2 c.509A>C p.E170A Substitution - Missense Urinary_tract COSM12965 TAF1L c.129C>T p.G43G Substitution - coding silent Lung COSM914318 PCGF6 c.361C>T p.R121C Substitution - Missense Endometrium COSM4702375 KMT2A c.1277G>A p.R426Q Substitution - Missense Large_intestine COSM41741 TET2 c.5618T>C p.I1873T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3984220 POGZ c.1676C>A p.T559N Substitution - Missense Kidney COSM1103008 TDRD7 c.1695G>A p.P565P Substitution - coding silent Endometrium COSM218875 BAG6 c.1250C>T p.S417L Substitution - Missense Pancreas COSM4169395 PBRM1 c.? p.R1173C Substitution - Missense Skin COSM41741 TET2 c.5618T>C p.I1873T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3866544 TDRD1 c.142C>T p.P48S Substitution - Missense Skin COSM3636465 KMT2C c.12149C>T p.S4050L Substitution - Missense Skin COSM5511012 DNMT1 c.3854G>A p.R1285H Substitution - Missense Biliary_tract COSM249273 KDM5C c.388A>T p.K130* Substitution - Nonsense Kidney COSM316441 UTY c.3430C>G p.L1144V Substitution - Missense Soft_tissue COSM2260263 MTF2 c.577G>A p.A193T Substitution - Missense Large_intestine COSM1308285 HDAC10 c.1301C>T p.A434V Substitution - Missense Urinary_tract COSM3378332 JMJD6 c.854C>T p.T285I Substitution - Missense Pancreas COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM4841952 KMT2C c.5623C>T p.Q1875* Substitution - Nonsense Cervix COSM480367 PBRM1 c.2128C>T p.R710* Substitution - Nonsense Biliary_tract COSM3845465 BRWD3 c.3124G>A p.E1042K Substitution - Missense Breast COSM3416548 SIRT4 c.612C>T p.D204D Substitution - coding silent Large_intestine COSM1457717 CHD7 c.4111T>G p.L1371V Substitution - Missense Large_intestine COSM707548 BPTF c.1407A>T p.K469N Substitution - Missense Lung COSM4829837 EYA1 c.1185C>T p.N395N Substitution - coding silent Cervix COSM77670 EZH1 c.2165A>T p.E722V Substitution - Missense Ovary COSM4959998 PRDM16 c.134C>T p.P45L Substitution - Missense Liver COSM2823015 KDM3A c.200T>A p.F67Y Substitution - Missense Large_intestine COSM5057490 DIDO1 c.2679C>T p.D893D Substitution - coding silent Stomach COSM4889105 BRDT c.116T>C p.V39A Substitution - Missense Upper_aerodigestive_tract COSM1223022 RAD54L c.2033+2T>C p.? Unknown Large_intestine COSM1569212 ATAD2 c.1047C>G p.N349K Substitution - Missense Large_intestine COSM1491247 TAF1 c.3495C>T p.L1165L Substitution - coding silent Breast COSM476079 BAZ2B c.3259G>T p.G1087* Substitution - Nonsense Kidney COSM3943884 PHC2 c.615G>A p.Q205Q Substitution - coding silent Ovary COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM23047 MEN1 c.163_173del11 p.P55fs*58 Deletion - Frameshift Parathyroid COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28795 KDM6A c.975-1G>T p.? Unknown Kidney COSM43445 TET2 c.5642A>G p.H1881R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85911 IKZF1 c.161-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51476 ARID1A c.3519_3519delC p.P1175fs*5 Deletion - Frameshift Ovary COSM100067 TET2 c.783_783delC p.C262fs*31 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM118429 SETD1A c.1743C>T p.D581D Substitution - coding silent Stomach COSM126879 PRDM9 c.2259T>A p.C753* Substitution - Nonsense Upper_aerodigestive_tract COSM133569 ASXL1 c.1786_1787insC p.R596fs*23 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM137792 TDRD5 c.1243G>A p.E415K Substitution - Missense Skin COSM216215 TAF1 c.5221A>G p.I1741V Substitution - Missense Central_nervous_system COSM245704 KMT2A c.6222C>T p.C2074C Substitution - coding silent Skin COSM254820 KMT2C c.9034C>T p.Q3012* Substitution - Nonsense Urinary_tract COSM309264 ARID1B c.2693A>C p.Q898P Substitution - Missense Lung COSM321096 KAT2B c.1700G>C p.G567A Substitution - Missense Lung COSM331261 MBD5 c.2725C>T p.H909Y Substitution - Missense Lung COSM339311 HDAC7 c.1005C>G p.A335A Substitution - coding silent Lung COSM370217 EYA4 c.205G>A p.G69R Substitution - Missense Lung COSM389521 PRDM9 c.2184C>A p.G728G Substitution - coding silent Lung COSM390049 ATF7IP c.979G>T p.E327* Substitution - Nonsense Lung COSM391904 ATF7IP c.1933delA p.K645fs*2 Deletion - Frameshift Lung COSM417011 CREBBP c.4990C>T p.R1664C Substitution - Missense Central_nervous_system COSM422793 PBRM1 c.2761C>T p.R921* Substitution - Nonsense Kidney COSM584256 BAP1 c.253C>T p.Q85* Substitution - Nonsense Eye COSM680961 ZMYM4 c.4038G>T p.W1346C Substitution - Missense Lung COSM693718 KMT2D c.14339T>G p.L4780R Substitution - Missense Lung COSM681102 HDAC1 c.1188G>C p.E396D Substitution - Missense Lung COSM1030467 SETD4 c.997G>A p.G333R Substitution - Missense Endometrium COSM939703 HDAC7 c.2683T>C p.W895R Substitution - Missense Endometrium COSM939705 HDAC7 c.1945G>A p.A649T Substitution - Missense Endometrium COSM972468 CTCF c.367A>G p.T123A Substitution - Missense Endometrium COSM750343 MYST3 c.2996C>G p.S999* Substitution - Nonsense Stomach COSM734365 GABRG1 c.209C>T p.S70L Substitution - Missense Lung COSM737610 NSD1 c.2016A>T p.T672T Substitution - coding silent Lung COSM907757 ARID1A c.6703_6704insC p.R2236fs*42 Insertion - Frameshift Endometrium COSM908421 PHC2 c.2463C>A p.I821I Substitution - coding silent Endometrium COSM904646 LBR c.268C>T p.P90S Substitution - Missense Endometrium COSM1602273 ZMYM4 c.2171A>T p.N724I Substitution - Missense Liver COSM1007249 EPC2 c.1499C>T p.T500I Substitution - Missense Endometrium COSM1034771 TCF20 c.2163C>T p.V721V Substitution - coding silent Endometrium COSM1076389 KDM1B c.1728A>G p.A576A Substitution - coding silent Endometrium COSM1077972 RING1 c.1055G>A p.S352N Substitution - Missense Endometrium COSM1108245 TAF1L c.1673G>A p.R558Q Substitution - Missense Large_intestine COSM1137664 KMT2C c.9943C>T p.Q3315* Substitution - Nonsense Kidney COSM4943269 EP300 c.7138C>G p.P2380A Substitution - Missense Breast COSM1228053 SUZ12 c.1078C>T p.R360C Substitution - Missense Skin COSM1180961 ATXN7 c.2334delC p.T781fs*11 Deletion - Frameshift Prostate COSM1603412 EPC1 c.2136A>G p.P712P Substitution - coding silent Liver COSM1302169 PRMT7 c.26A>G p.N9S Substitution - Missense Urinary_tract COSM1377595 MYST1 c.487A>G p.T163A Substitution - Missense Large_intestine COSM1390291 SMARCA4 c.4887T>C p.D1629D Substitution - coding silent Soft_tissue COSM1381186 SMYD4 c.72G>T p.Q24H Substitution - Missense Ovary COSM1422140 KAT2B c.1560C>T p.N520N Substitution - coding silent Breast COSM1464555 MORF4L2 c.69delA p.K23fs*12 Deletion - Frameshift Large_intestine COSM1369039 CHD8 c.1051_1052insA p.I351fs*70 Insertion - Frameshift Large_intestine COSM1344943 MTF2 c.1181delA p.G397fs*6 Deletion - Frameshift Large_intestine COSM1484889 FXR1 c.1239T>G p.S413S Substitution - coding silent Breast COSM1486703 PRDM9 c.2126C>G p.T709S Substitution - Missense Large_intestine COSM1472102 CHD7 c.8397G>A p.M2799I Substitution - Missense Prostate COSM1477269 PHF11 c.726T>G p.H242Q Substitution - Missense Breast COSM1626101 TAF1 c.1684A>T p.K562* Substitution - Nonsense Liver COSM1631887 SP140_ENST00000392045 c.1507A>G p.R503G Substitution - Missense Liver COSM1686357 SCMH1 c.241+1G>A p.? Unknown Skin COSM1670145 DHX30 c.2608C>A p.L870M Substitution - Missense Large_intestine COSM1668513 LBR c.1130G>A p.R377Q Substitution - Missense Large_intestine COSM1730606 CHD7 c.5944G>T p.G1982W Substitution - Missense Liver COSM1724992 ASXL1 c.2253_2254insG p.A752fs*22 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1978045 PRDM10 c.862C>T p.R288W Substitution - Missense Bone COSM2007092 KMT2D c.6308C>T p.S2103F Substitution - Missense Prostate COSM2810295 ASXL3 c.767C>A p.S256Y Substitution - Missense Large_intestine COSM2848390 GABRG1 c.819C>T p.F273F Substitution - coding silent Skin COSM2855486 PHF10 c.1093A>G p.M365V Substitution - Missense Upper_aerodigestive_tract COSM3108883 GTF3C1 c.3502A>G p.S1168G Substitution - Missense Large_intestine COSM3356382 ZMYM2 c.3568+3A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3369725 ZMYM1 c.3330C>A p.A1110A Substitution - coding silent Thyroid COSM3385239 ASH1L c.5050C>T p.R1684W Substitution - Missense Pancreas COSM3410218 PRDM9 c.1491G>C p.E497D Substitution - Missense Central_nervous_system COSM3413591 TAF1L c.4999G>A p.D1667N Substitution - Missense Central_nervous_system COSM3490034 KDM4A c.1755T>A p.F585L Substitution - Missense Skin COSM3508213 GTF3C1 c.4621C>T p.R1541C Substitution - Missense Skin COSM3488870 ZMYM1 c.1115C>T p.S372L Substitution - Missense Skin COSM3424965 ATRX c.1331G>A p.R444Q Substitution - Missense Skin COSM3458257 EP400 c.6678C>T p.L2226L Substitution - coding silent Skin COSM3631644 MLL5 c.619C>T p.Q207* Substitution - Nonsense Skin COSM3636368 SMARCD3 c.1157T>C p.I386T Substitution - Missense Skin COSM3512607 CDYL2 c.749G>A p.R250Q Substitution - Missense Skin COSM3511211 PRMT7 c.741G>A p.M247I Substitution - Missense Skin COSM3690997 CREBBP c.5356C>T p.R1786C Substitution - Missense Large_intestine COSM3710969 CHD4 c.4058G>A p.R1353Q Substitution - Missense Upper_aerodigestive_tract COSM3735034 SMARCA4 c.1761+2T>A p.? Unknown Ovary COSM3742581 AP001011.3_ENST00000320876 c.2981C>T p.T994I Substitution - Missense Liver COSM3752792 TRIM66 c.1397A>G p.H466R Substitution - Missense Thyroid COSM3772635 KMT2D c.14522A>G p.N4841S Substitution - Missense Pancreas COSM3798835 ING5 c.597G>A p.M199I Substitution - Missense Urinary_tract COSM3853964 NSD1 c.4488A>G p.P1496P Substitution - coding silent Stomach COSM3827694 DUSP1 c.595G>A p.G199S Substitution - Missense Breast COSM3839735 SMEK2 c.189G>A p.Q63Q Substitution - coding silent Breast COSM3845410 ATRX c.2156C>G p.S719C Substitution - Missense Breast COSM3824897 TET2 c.5081T>C p.L1694S Substitution - Missense Breast COSM3974438 SETD2 c.3178G>C p.G1060R Substitution - Missense Central_nervous_system COSM4023395 HDGF c.198C>T p.Y66Y Substitution - coding silent Stomach COSM3984130 TTF2 c.1341C>G p.I447M Substitution - Missense Kidney COSM3996512 TAF1L c.2268C>T p.G756G Substitution - coding silent Kidney COSM4092774 HDAC4 c.3133G>A p.A1045T Substitution - Missense Stomach COSM4077680 DPF1 c.128C>T p.S43L Substitution - Missense Stomach COSM4135697 MEN1 c.135G>C p.E45D Substitution - Missense Pancreas COSM4156642 FMR1 c.357A>C p.K119N Substitution - Missense Upper_aerodigestive_tract COSM4170097 TET2 c.2551delC p.P851fs*22 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4416110 UHRF2 c.2268C>T p.C756C Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4425621 AKAP1 c.1516C>T p.H506Y Substitution - Missense Oesophagus COSM4429169 HDAC5 c.2970G>A p.L990L Substitution - coding silent Oesophagus COSM4519943 EYA4 c.1035G>A p.R345R Substitution - coding silent Skin COSM4434920 TAF1 c.3649C>T p.R1217W Substitution - Missense Oesophagus COSM4437574 BAHCC1 c.1107G>A p.L369L Substitution - coding silent Oesophagus COSM4590278 KDM2A c.310A>G p.S104G Substitution - Missense Upper_aerodigestive_tract COSM4713917 PHF11 c.858T>G p.I286M Substitution - Missense Large_intestine COSM4714167 PHRF1 c.80C>T p.P27L Substitution - Missense Large_intestine COSM4649096 HDAC9 c.1808T>C p.L603S Substitution - Missense Large_intestine COSM4801288 MECOM c.1033C>T p.Q345* Substitution - Nonsense Liver COSM4890827 SRCAP c.1594G>C p.E532Q Substitution - Missense Upper_aerodigestive_tract COSM4941151 ARID1A c.4424A>C p.N1475T Substitution - Missense Liver COSM4838274 CHD4 c.4828G>A p.E1610K Substitution - Missense Cervix COSM4990557 ARID1A c.4802C>T p.P1601L Substitution - Missense Skin COSM4975663 ATF7IP c.3307A>G p.T1103A Substitution - Missense Oesophagus COSM5028727 DIDO1 c.4500C>G p.L1500L Substitution - coding silent Breast COSM5018671 EP400 c.1282_1284delGAG p.E437delE Deletion - In frame Soft_tissue COSM5114365 SMARCC2 c.2551C>T p.R851W Substitution - Missense Large_intestine COSM5379829 LBR c.1077C>T p.A359A Substitution - coding silent Skin COSM5369540 PHF20 c.1093T>C p.S365P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5418318 PRDM15 c.2223T>A p.N741K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5518772 TRRAP c.2241G>A p.A747A Substitution - coding silent Biliary_tract COSM5462789 CARM1 c.635C>T p.A212V Substitution - Missense Large_intestine COSM5478562 ZMYM1 c.96+10T>G p.? Unknown Large_intestine COSM5480126 ZGPAT c.1399G>T p.E467* Substitution - Nonsense Large_intestine COSM5464910 PHF20 c.1301A>C p.K434T Substitution - Missense Large_intestine COSM5430312 CHD4 c.2727G>A p.L909L Substitution - coding silent Oesophagus COSM5623256 TET2 c.3473C>A p.A1158E Substitution - Missense Oesophagus COSM5648206 CREBBP c.324C>A p.N108K Substitution - Missense Oesophagus COSM5755282 BRD4 c.182A>C p.N61T Substitution - Missense Large_intestine COSM5719961 BRPF1 c.3146C>T p.T1049I Substitution - Missense Skin COSM5611084 TRRAP c.1140C>T p.A380A Substitution - coding silent Skin COSM5778330 KDM5A c.3840C>T p.S1280S Substitution - coding silent Breast COSM5944244 TET2 c.3816_3820delCTGTC p.C1273fs*25 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5951202 MTA1 c.1696G>T p.A566S Substitution - Missense Oesophagus COSM5927582 ERCC6 c.2710-7C>T p.? Unknown Skin COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM1716177 EZH2 c.? p.Y646H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144590 DNMT3A c.?_?del86 p.S775fs*? Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM1258838 NCOA3 c.3379C>T p.H1127Y Substitution - Missense Oesophagus COSM4040261 EP400 c.4489G>A p.A1497T Substitution - Missense Stomach COSM4455399 ASH2L c.757A>G p.K253E Substitution - Missense Skin COSM1108 SMARCB1 c.? p.? Unknown Central_nervous_system COSM939992 KMT2D c.13938G>A p.P4646P Substitution - coding silent Biliary_tract COSM5684502 HDAC7 c.1277A>C p.H426P Substitution - Missense Soft_tissue COSM23159 MEN1 c.1413G>A p.W471* Substitution - Nonsense Central_nervous_system COSM3729124 ZMYM1 c.1361G>A p.R454Q Substitution - Missense Stomach COSM3706553 RTF1 c.1582G>C p.D528H Substitution - Missense Liver COSM1262071 PHF7 c.611G>A p.C204Y Substitution - Missense Stomach COSM4401325 SFMBT2 c.1186C>T p.P396S Substitution - Missense Skin COSM1470651 SMARCC2 c.3529G>C p.V1177L Substitution - Missense Prostate COSM470408 SETD3 c.57T>C p.T19T Substitution - coding silent Endometrium COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Upper_aerodigestive_tract COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Liver COSM4186746 SETD2 c.2946-2A>G p.? Unknown Kidney COSM1735762 TET2 c.2737C>T p.Q913* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1720121 PRDM9 c.1883G>A p.R628K Substitution - Missense Skin COSM1755316 ACTB c.1031C>G p.S344C Substitution - Missense Urinary_tract COSM5607929 BAP1 c.1817C>A p.A606D Substitution - Missense Skin COSM1251046 EHMT1 c.2725G>A p.D909N Substitution - Missense Stomach COSM1161991 SETD2 c.5923-2A>T p.? Unknown Kidney COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4838124 SMEK2 c.1469-2A>G p.? Unknown Cervix COSM277383 AP001011.3_ENST00000320876 c.790G>A p.E264K Substitution - Missense Large_intestine COSM3396732 MYST3 c.768G>T p.R256R Substitution - coding silent Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM2218395 PYGO1 c.17C>T p.S6F Substitution - Missense Large_intestine COSM1184491 BAZ2B c.1811C>A p.S604Y Substitution - Missense Large_intestine COSM4590120 KDM4B c.2128A>G p.K710E Substitution - Missense Upper_aerodigestive_tract COSM910297 RAD54L c.1275G>A p.K425K Substitution - coding silent Endometrium COSM4941865 PRDM16 c.2339A>G p.K780R Substitution - Missense Skin COSM4646062 HDAC4 c.271G>A p.A91T Substitution - Missense Large_intestine COSM3396732 MYST3 c.768G>T p.R256R Substitution - coding silent Prostate COSM3691333 NCOR1 c.3935T>C p.L1312P Substitution - Missense Large_intestine COSM1327697 FXR1 c.1329A>T p.G443G Substitution - coding silent Ovary COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3624506 TCF19 c.839C>T p.P280L Substitution - Missense Skin COSM87141 TET2 c.3954+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43417 TET2 c.2746C>T p.Q916* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1265388 SFMBT2 c.1761G>T p.L587L Substitution - coding silent Oesophagus COSM4159839 PRDM9 c.2042C>G p.T681S Substitution - Missense Upper_aerodigestive_tract COSM3745662 EYA1 c.781C>A p.P261T Substitution - Missense Liver COSM4974971 KDM5C c.472G>T p.E158* Substitution - Nonsense Oesophagus COSM3812604 BAZ2A_ENST00000379441 c.378C>A p.I126I Substitution - coding silent Breast COSM1083681 MLL5 c.2853T>A p.I951I Substitution - coding silent Endometrium COSM4754817 KMT2D c.5380G>A p.A1794T Substitution - Missense Stomach COSM5439751 HDAC11 c.412+1G>A p.? Unknown Oesophagus COSM4619589 HDAC3 c.926A>G p.Y309C Substitution - Missense Large_intestine COSM5716562 MEN1 c.897C>T p.L299L Substitution - coding silent Skin COSM5964600 TCF20 c.71C>G p.S24* Substitution - Nonsense Breast COSM3725945 KMT2D c.9805C>T p.R3269W Substitution - Missense Lung COSM1109591 KDM4C c.1841C>T p.A614V Substitution - Missense Endometrium COSM1682090 PRMT2 c.301G>T p.E101* Substitution - Nonsense Large_intestine COSM1073177 L3MBTL3 c.650C>T p.S217L Substitution - Missense Endometrium COSM4666075 BRD1 c.2078G>A p.R693Q Substitution - Missense Large_intestine COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM74490 EHMT2 c.356C>T p.S119F Substitution - Missense Ovary COSM4008368 DMAP1 c.1107C>T p.S369S Substitution - coding silent Stomach COSM217038 ARID1A c.6251T>A p.V2084D Substitution - Missense Liver COSM480370 PBRM1 c.2126T>C p.I709T Substitution - Missense Kidney COSM4116591 KAT2B c.1601T>G p.I534S Substitution - Missense Stomach COSM4015100 JMJD1C c.5035G>A p.D1679N Substitution - Missense Stomach COSM4427079 PHRF1 c.1469C>T p.A490V Substitution - Missense Oesophagus COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1625330 MORF4L2 c.227G>C p.R76T Substitution - Missense Liver COSM1604554 PRDM11 c.169G>C p.V57L Substitution - Missense Liver COSM1642928 ARID1B c.3169C>T p.R1057* Substitution - Nonsense Skin COSM1666862 ARID1A c.? p.? Unknown Endometrium COSM5725490 ZBTB4 c.181A>C p.T61P Substitution - Missense Skin COSM1228838 TDRD6 c.1900C>A p.L634I Substitution - Missense Large_intestine COSM5369885 TET2 c.? p.G805* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4635067 TET2 c.712G>A p.V238I Substitution - Missense Large_intestine COSM219272 CHD6 c.2029C>G p.P677A Substitution - Missense Breast COSM1124905 TAF1 c.3544T>C p.C1182R Substitution - Missense Endometrium COSM3858049 NCOA7 c.2734G>A p.G912R Substitution - Missense Stomach COSM4963450 SMYD2 c.415G>A p.D139N Substitution - Missense Pancreas COSM3909079 PHF2 c.2025T>C p.D675D Substitution - coding silent Stomach COSM1331262 SMARCA1 c.2580G>C p.W860C Substitution - Missense Ovary COSM1663939 RNF2 c.272G>A p.R91Q Substitution - Missense Kidney COSM1118758 SCML2 c.1705G>T p.V569F Substitution - Missense Endometrium COSM1315404 SCML2 c.764C>T p.S255F Substitution - Missense Urinary_tract COSM3936466 CHD8 c.7252C>T p.R2418W Substitution - Missense Oesophagus COSM4170405 KMT2D c.12346_12353delACCCAGAA p.T4116fs*21 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5563555 KMT2C c.9048A>G p.Q3016Q Substitution - coding silent Prostate COSM944335 PHC1 c.748G>T p.V250L Substitution - Missense Endometrium COSM223092 TDRD6 c.1496C>T p.P499L Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5756831 BAG6 c.1482C>T p.T494T Substitution - coding silent Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM217375 PHF10 c.353_354insT p.K118fs*6 Insertion - Frameshift Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5375283 KMT2D c.5670C>T p.F1890F Substitution - coding silent Skin COSM5415072 KMT2D c.1379_1380insC p.P461fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3627956 TDRD6 c.3294T>C p.C1098C Substitution - coding silent Skin COSM4093203 NCOA1 c.1064A>C p.Q355P Substitution - Missense Stomach COSM3411945 STK31 c.2644C>T p.R882* Substitution - Nonsense Central_nervous_system COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM309542 BRWD3 c.3446G>A p.R1149Q Substitution - Missense Large_intestine COSM4898234 EYA2 c.876C>T p.S292S Substitution - coding silent Skin COSM310076 CHD1 c.71C>T p.S24F Substitution - Missense Lung COSM3789903 PRDM16 c.2650G>C p.E884Q Substitution - Missense Urinary_tract COSM1130820 DNMT3A c.1689G>A p.V563V Substitution - coding silent Prostate COSM384301 GLYR1 c.836G>A p.G279E Substitution - Missense Lung COSM43457 TET2 c.3508C>T p.Q1170* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM216212 SMC1A c.2369G>A p.R790Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3808487 KMT2A c.7208A>G p.K2403R Substitution - Missense Breast COSM4559124 ORC1 c.792G>A p.R264R Substitution - coding silent Skin COSM39870 BAZ1A c.1341G>A p.E447E Substitution - coding silent Central_nervous_system COSM468037 EP400 c.8226A>G p.Q2742Q Substitution - coding silent Pancreas COSM4003461 NSD1 c.6829T>C p.L2277L Substitution - coding silent Soft_tissue COSM4642523 BAZ2B c.6035G>C p.G2012A Substitution - Missense Large_intestine COSM3142363 PRDM13 c.289G>A p.A97T Substitution - Missense Large_intestine COSM1696224 KDM3B c.4888C>T p.R1630* Substitution - Nonsense Skin COSM4837524 KIAA2026_ENST00000399933 c.427G>T p.E143* Substitution - Nonsense Cervix COSM3410607 SIRT5 c.203C>T p.P68L Substitution - Missense Central_nervous_system COSM5969459 RAD54L c.646G>T p.V216L Substitution - Missense Upper_aerodigestive_tract COSM5364600 L3MBTL4 c.462T>A p.G154G Substitution - coding silent Large_intestine COSM1617680 SETD2 c.2908T>G p.F970V Substitution - Missense Liver COSM5730820 SETD2 c.5687delG p.R1896fs*12 Deletion - Frameshift Breast COSM1619373 LMNB1 c.1584G>A p.K528K Substitution - coding silent Liver COSM3837127 BAZ2B c.4782A>C p.S1594S Substitution - coding silent Breast COSM166152 PHF15 c.2197_2198insA p.S733fs*5 Insertion - Frameshift Breast COSM1359417 HNF1A c.865delC p.P291fs*51 Deletion - Frameshift Biliary_tract COSM5047850 KMT2C c.4439C>G p.S1480* Substitution - Nonsense Oesophagus COSM5583987 RAI1 c.2852C>T p.P951L Substitution - Missense Skin COSM23061 MEN1 c.437delT p.F146fs*39 Deletion - Frameshift Parathyroid COSM1702656 KAT6B c.6152C>T p.P2051L Substitution - Missense Skin COSM5597637 SMARCC2 c.740C>T p.T247I Substitution - Missense Skin COSM3726408 KAT2B c.1260A>C p.G420G Substitution - coding silent Lung COSM480453 PBRM1 c.478G>T p.E160* Substitution - Nonsense Kidney COSM254668 EP300 c.2470C>T p.Q824* Substitution - Nonsense Urinary_tract COSM1603171 PWWP2B c.1207G>T p.G403C Substitution - Missense Liver COSM914354 ASXL1 c.? p.L743fs*55 Frameshift Haematopoietic_and_lymphoid_tissue COSM992139 BRD4 c.1878C>T p.P626P Substitution - coding silent Endometrium COSM42016 TET2 c.4393C>T p.R1465* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3414471 SETD7 c.997G>A p.V333I Substitution - Missense Oesophagus COSM1682288 EP300 c.4319C>T p.P1440L Substitution - Missense Large_intestine COSM4591901 NCOR1 c.618+6T>A p.? Unknown Upper_aerodigestive_tract COSM1458060 PRDM14 c.404G>A p.G135D Substitution - Missense Large_intestine COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1222120 PRMT8 c.1015G>A p.V339I Substitution - Missense Pancreas COSM118087 SETD5_ENST00000402198 c.3174G>A p.Q1058Q Substitution - coding silent Ovary COSM4652336 ARID1A c.3816G>A p.A1272A Substitution - coding silent Large_intestine COSM5878941 TET2 c.1174delT p.S393fs*34 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4705966 NCOA5 c.936G>T p.Q312H Substitution - Missense Large_intestine COSM4097798 NCOA6 c.5945C>T p.A1982V Substitution - Missense Stomach COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1188585 HCFC2 c.97G>T p.E33* Substitution - Nonsense Lung COSM5680713 ASXL1 c.3696A>T p.K1232N Substitution - Missense Soft_tissue COSM5546653 PHF6 c.128_130ATA>TGGGTTC p.H43fs*17 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM1088656 STK31 c.2320G>A p.A774T Substitution - Missense Endometrium COSM4956602 DNMT1 c.1744C>T p.R582W Substitution - Missense Liver COSM4040546 ATF7IP c.2941G>T p.D981Y Substitution - Missense Stomach COSM1025726 ASXL1 c.1876_1885del10 p.G626fs*74 Deletion - Frameshift Endometrium COSM3892651 SIRT6 c.72C>T p.F24F Substitution - coding silent Skin COSM4655893 SETD5_ENST00000402198 c.1794A>G p.A598A Substitution - coding silent Large_intestine COSM96374 BAP1 c.284C>A p.A95D Substitution - Missense Pleura COSM955988 METTL21D c.408A>G p.P136P Substitution - coding silent Endometrium COSM34090 IDH2 c.516G>T p.R172S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM21486 HNF1A c.872delC p.P291fs*51 Deletion - Frameshift Large_intestine COSM896913 ASH1L c.6706C>T p.R2236W Substitution - Missense Endometrium COSM1639220 CHD4 c.3380G>A p.R1127Q Substitution - Missense Oesophagus COSM1308209 EP300 c.5217C>G p.I1739M Substitution - Missense Urinary_tract COSM2723089 MSL3 c.275C>A p.A92D Substitution - Missense Upper_aerodigestive_tract COSM989557 L3MBTL4 c.192C>T p.V64V Substitution - coding silent Large_intestine COSM5991840 CHD7 c.529delC p.P178fs*33 Deletion - Frameshift Prostate COSM354479 PRDM9 c.507G>T p.L169L Substitution - coding silent Lung COSM1414222 PRDM15 c.2272C>T p.R758C Substitution - Missense Large_intestine COSM1519435 CHD9 c.3001A>G p.R1001G Substitution - Missense Stomach COSM4482126 KMT2A c.2576C>T p.S859F Substitution - Missense Skin COSM4856226 ASXL1 c.3991C>T p.P1331S Substitution - Missense Cervix COSM246563 PHF14 c.1739T>C p.M580T Substitution - Missense Prostate COSM1416758 PHF21B c.480C>T p.A160A Substitution - coding silent Large_intestine COSM6001941 CREBBP c.3299C>T p.A1100V Substitution - Missense Prostate COSM1054434 WHSC1 c.1804C>T p.R602W Substitution - Missense Endometrium COSM4911081 RSF1 c.1677C>A p.T559T Substitution - coding silent Liver COSM1411127 DNMT3B c.1716G>C p.R572S Substitution - Missense Large_intestine COSM3967087 ERCC6 c.4313A>G p.Q1438R Substitution - Missense Central_nervous_system COSM5796111 KMT2C c.3315A>G p.Q1105Q Substitution - coding silent Breast COSM4043550 SMARCC2 c.156G>A p.L52L Substitution - coding silent Stomach COSM252457 CTCF c.1103G>A p.R368H Substitution - Missense Ovary COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Central_nervous_system COSM757641 TAF1 c.2854G>A p.G952R Substitution - Missense Lung COSM4488928 NCOA2 c.3400C>T p.P1134S Substitution - Missense Skin COSM255213 MEN1 c.1621A>G p.T541A Substitution - Missense Soft_tissue COSM4613575 TCF20 c.2288_2290delACC p.H763delH Deletion - In frame Large_intestine COSM5429524 KMT2A c.6581G>A p.R2194H Substitution - Missense Oesophagus COSM1245447 ARID1A c.1207C>T p.Q403* Substitution - Nonsense Urinary_tract COSM1317542 PRDM16 c.1762G>A p.V588M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM325575 JARID2 c.2166G>T p.E722D Substitution - Missense Lung COSM1569295 TAF1L c.4109C>T p.P1370L Substitution - Missense Large_intestine COSM5588153 L3MBTL3 c.2117C>T p.S706F Substitution - Missense Skin COSM86232 AEBP2 c.624G>A p.E208E Substitution - coding silent Ovary COSM235698 TET2 c.3278_3281delCCAA p.T1093fs*12 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1258845 NCOA7 c.2046C>T p.Y682Y Substitution - coding silent Prostate COSM3461517 KMT2D c.13444T>A p.F4482I Substitution - Missense Skin COSM5751789 EZH2 c.421C>CT p.Q141fs*7 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM1471488 BRD1 c.3112C>T p.R1038C Substitution - Missense Prostate COSM4187303 ATAD2 c.52G>T p.A18S Substitution - Missense Kidney COSM1411475 PHF20 c.2473delC p.L826fs*62 Deletion - Frameshift Large_intestine COSM4104935 BRD1 c.1601G>A p.R534H Substitution - Missense Stomach COSM5887374 ALKBH3 c.199C>T p.P67S Substitution - Missense Skin COSM277386 AP001011.3_ENST00000320876 c.3808C>T p.P1270S Substitution - Missense Large_intestine COSM1226784 SMARCC1 c.2424A>C p.Q808H Substitution - Missense Large_intestine COSM3923918 BAZ1B c.1086T>C p.P362P Substitution - coding silent Skin COSM3777803 PHF3 c.2698G>C p.E900Q Substitution - Missense Urinary_tract COSM28793 KDM6A c.4161_4162delTG p.Y1387fs*1 Deletion - Frameshift Kidney COSM983362 BPTF c.8603C>T p.A2868V Substitution - Missense Endometrium COSM5945805 BAP1 c.? p.S113fs*3 Frameshift Pericardium COSM5608295 DOT1L c.3458C>T p.S1153F Substitution - Missense Skin COSM4823530 MBD3 c.606G>A p.K202K Substitution - coding silent Cervix COSM3463546 BAZ2A_ENST00000379441 c.811C>T p.P271S Substitution - Missense Skin COSM297306 MPHOSPH8 c.2352C>T p.I784I Substitution - coding silent Large_intestine COSM218368 RBBP5 c.814C>T p.R272W Substitution - Missense Pancreas COSM1709554 SMYD4 c.2309T>C p.V770A Substitution - Missense Skin COSM4771389 PBRM1 c.3068_3069insA p.Y1023fs*1 Insertion - Frameshift Kidney COSM4789104 L3MBTL3 c.1081A>T p.N361Y Substitution - Missense Liver COSM5470867 DNMT1 c.282C>T p.N94N Substitution - coding silent Large_intestine COSM1238724 DPF2 c.857C>T p.T286M Substitution - Missense Large_intestine COSM896618 TDRD10 c.362C>T p.A121V Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3474972 ASH1L c.2767G>A p.E923K Substitution - Missense Skin COSM1009 SMARCB1 c.897G>A p.S299S Substitution - coding silent Soft_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4531915 ATAD2 c.1839G>A p.R613R Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4574376 PHF21A c.370A>G p.T124A Substitution - Missense Bone COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM133021 ARID1A c.6403_6408delATTCTG p.I2135_L2136del Deletion - In frame Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5667212 NCOA7 c.60G>A p.K20K Substitution - coding silent Soft_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3686849 SFMBT2 c.1528C>A p.L510I Substitution - Missense Large_intestine COSM5708578 TBL1XR1 c.1059T>A p.N353K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM480438 PBRM1 c.715-1G>A p.? Unknown Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1479275 NCOR1 c.1573_1574insA p.T525fs*11 Insertion - Frameshift Pleura COSM1716415 CTCF c.610delA p.T204fs*18 Deletion - Frameshift Endometrium COSM4031017 ARID1A c.4381C>T p.R1461* Substitution - Nonsense Endometrium COSM3097884 BRWD3 c.84C>T p.S28S Substitution - coding silent Large_intestine COSM3795396 PHF12 c.314G>A p.R105H Substitution - Missense Urinary_tract COSM41741 TET2 c.5618T>C p.I1873T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5466426 PRDM9 c.729C>T p.P243P Substitution - coding silent Large_intestine COSM1185728 SMYD2 c.503A>T p.D168V Substitution - Missense Lung COSM1681609 ASXL1 c.1773C>A p.Y591* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3924359 ZCWPW1 c.1595G>A p.G532D Substitution - Missense Skin COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3374116 ARID1B c.4969C>A p.Q1657K Substitution - Missense Thyroid COSM3467908 RNF17 c.1455C>T p.I485I Substitution - coding silent Skin COSM4805577 SND1 c.423T>A p.A141A Substitution - coding silent Liver COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM1015786 TET2 c.73T>C p.C25R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM954450 CHD8 c.1679C>T p.A560V Substitution - Missense Endometrium COSM1188625 SIRT4 c.718C>T p.P240S Substitution - Missense Lung COSM4490729 SMCHD1 c.2029C>T p.P677S Substitution - Missense Skin COSM3579801 HDAC4 c.1854C>T p.P618P Substitution - coding silent Skin COSM3665949 BTAF1 c.1688T>A p.M563K Substitution - Missense Liver COSM5990095 TET2 c.2074delG p.E692fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3713960 SMC1A c.3196C>T p.R1066C Substitution - Missense Large_intestine COSM4620642 KAT5 c.655C>T p.R219W Substitution - Missense Large_intestine COSM2112127 PRMT3 c.119A>T p.D40V Substitution - Missense Large_intestine COSM3757702 BAZ2B c.6071G>A p.S2024N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5055891 SIRT7 c.359G>A p.R120Q Substitution - Missense Stomach COSM1051636 SMARCA5 c.3041A>G p.E1014G Substitution - Missense Endometrium COSM1101451 EYA1 c.1108G>T p.A370S Substitution - Missense Endometrium COSM249798 DNMT3A c.917G>A p.W306* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM37030 EZH2 c.1936T>C p.Y646H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43490 TET2 c.1664_1665insC p.T556fs*11 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM46423 HNF1A c.798_799insAAC p.N266_W267insN Insertion - In frame Liver COSM78574 SRCAP c.3150G>C p.M1050I Substitution - Missense Ovary COSM88746 CREBBP c.5035_5037delTCC p.S1680delS Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM87896 KMT2D c.8784delC p.S2929fs*3 Deletion - Frameshift Central_nervous_system COSM87145 TET2 c.4011T>A p.Y1337* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM127549 CBX2 c.1542C>T p.T514T Substitution - coding silent Upper_aerodigestive_tract COSM144517 TET2 c.2020C>T p.Q674* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Upper_aerodigestive_tract COSM149376 SETD2 c.4376C>T p.P1459L Substitution - Missense Soft_tissue COSM179762 SFMBT2 c.960G>A p.A320A Substitution - coding silent Endometrium COSM247772 TDRD6 c.1472C>T p.A491V Substitution - Missense Large_intestine COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Large_intestine COSM244038 DIDO1 c.2417C>T p.P806L Substitution - Missense Prostate COSM249342 ARID1A c.6277G>T p.V2093F Substitution - Missense Kidney COSM266404 DNMT3A c.327delG p.Q110fs*52 Deletion - Frameshift Large_intestine COSM271520 SETD3 c.1493C>T p.P498L Substitution - Missense Breast COSM300506 TRRAP c.3910G>A p.A1304T Substitution - Missense Liver COSM297068 PHF2 c.2961C>A p.T987T Substitution - coding silent Large_intestine COSM320130 EP300 c.4114T>C p.C1372R Substitution - Missense Lung COSM327313 PHF6 c.346C>T p.R116* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM985421 CHD3 c.252C>T p.Y84Y Substitution - coding silent Endometrium COSM940016 KMT2D c.10128G>A p.G3376G Substitution - coding silent Endometrium COSM1030725 BRWD1 c.338delG p.R113fs*29 Deletion - Frameshift Endometrium COSM757647 TAF1 c.1178G>A p.G393D Substitution - Missense Lung COSM912512 RERE c.3878A>G p.Y1293C Substitution - Missense Endometrium COSM961975 TP53BP1 c.4324C>T p.R1442* Substitution - Nonsense Endometrium COSM957511 ARID2 c.3985G>T p.E1329* Substitution - Nonsense Lung COSM1093666 TRRAP c.7939C>T p.R2647W Substitution - Missense Large_intestine COSM1099926 MYST3 c.4189G>A p.E1397K Substitution - Missense Endometrium COSM1166687 BAZ1B c.562G>A p.E188K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1230645 TRRAP c.10853C>T p.P3618L Substitution - Missense Pancreas COSM1248228 CHD8 c.899A>G p.Q300R Substitution - Missense Stomach COSM1182084 ADNP c.739A>G p.I247V Substitution - Missense Large_intestine COSM1163731 ADNP c.3047delA p.K1016fs*11 Deletion - Frameshift Pancreas COSM1180961 ATXN7 c.2334delC p.T781fs*11 Deletion - Frameshift Large_intestine COSM1162780 RTF1 c.1109T>C p.I370T Substitution - Missense Pancreas COSM1235225 EP300 c.6584A>G p.Q2195R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1235290 PHF6 c.404C>T p.A135V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1319427 SMC1A c.1757G>A p.R586Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1377844 CREBBP c.3507C>T p.R1169R Substitution - coding silent Large_intestine COSM1369651 BAZ1A c.2830delT p.S944fs*34 Deletion - Frameshift Large_intestine COSM1387351 CHD3 c.1612delC p.R540fs*16 Deletion - Frameshift Large_intestine COSM1458079 NCOA2 c.790C>A p.L264I Substitution - Missense Large_intestine COSM1351607 KMT2A c.2311_2312insC p.S774fs*12 Insertion - Frameshift Large_intestine COSM1341419 ARID1A c.5069C>A p.T1690N Substitution - Missense Large_intestine COSM1495566 SETD2 c.820G>T p.E274* Substitution - Nonsense Kidney COSM1471496 EP300 c.6262C>T p.R2088W Substitution - Missense Prostate COSM1488103 MLL5 c.4214C>T p.S1405L Substitution - Missense Upper_aerodigestive_tract COSM1581353 NSD1 c.1544A>T p.H515L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1636931 SETD2 c.3265C>T p.R1089* Substitution - Nonsense Liver COSM1639223 ING4 c.295C>T p.R99W Substitution - Missense Stomach COSM1664271 SMARCB1 c.550G>A p.E184K Substitution - Missense Kidney COSM1665065 ZBTB38 c.1974G>T p.E658D Substitution - Missense Kidney COSM1666171 HDAC6 c.1834G>T p.A612S Substitution - Missense Eye COSM1744089 PHRF1 c.2212C>T p.R738W Substitution - Missense Biliary_tract COSM52823 PBRM1 c.3217delA p.I1073fs*86 Deletion - Frameshift Kidney COSM1749721 PRMT7 c.1368G>C p.E456D Substitution - Missense Urinary_tract COSM1936431 BAZ2A c.5771G>A p.R1924H Substitution - Missense Large_intestine COSM2036152 PHRF1 c.1057A>G p.T353A Substitution - Missense Large_intestine COSM2105384 KMT2A c.2620_2621delAG p.D877fs*8 Deletion - Frameshift Large_intestine COSM2191127 RAD54L c.1638G>A p.T546T Substitution - coding silent Breast COSM2260247 MTF2 c.55C>T p.R19C Substitution - Missense Large_intestine COSM2909154 HDAC4 c.1197C>A p.T399T Substitution - coding silent Large_intestine COSM2965472 KDM6A c.3822C>T p.S1274S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3153069 EP300 c.89G>T p.G30V Substitution - Missense Large_intestine COSM3209032 HDAC3 c.1261G>T p.D421Y Substitution - Missense Large_intestine COSM3206354 FXR1 c.1593A>G p.E531E Substitution - coding silent Upper_aerodigestive_tract COSM3175955 PHIP c.4602T>G p.A1534A Substitution - coding silent Large_intestine COSM3376679 PRDM2 c.2622G>A p.T874T Substitution - coding silent Pancreas COSM3381445 SHPRH c.1101T>C p.L367L Substitution - coding silent Pancreas COSM3368243 KMT2A c.10863A>C p.Q3621H Substitution - Missense Thyroid COSM3379193 PRDM15 c.3186G>A p.G1062G Substitution - coding silent Pancreas COSM3479279 TDRD5 c.747G>A p.P249P Substitution - coding silent Skin COSM3484909 ACTA1 c.57G>A p.V19V Substitution - coding silent Skin COSM3642769 TRRAP c.3986T>G p.V1329G Substitution - Missense Skin COSM3596044 PHF7 c.690C>T p.A230A Substitution - coding silent Skin COSM3589885 MECOM c.923C>T p.P308L Substitution - Missense Skin COSM3600576 SMARCA5 c.2692G>A p.E898K Substitution - Missense Skin COSM3563511 ATRX c.3429G>A p.K1143K Substitution - coding silent Skin COSM3649310 MYST3 c.93G>A p.R31R Substitution - coding silent Skin COSM3650727 EYA1 c.753C>T p.S251S Substitution - coding silent Skin COSM3696095 SETMAR c.1745G>A p.G582D Substitution - Missense Large_intestine COSM3704553 ZMYM2 c.295A>G p.I99V Substitution - Missense Liver COSM3712650 SMCHD1 c.2522G>T p.S841I Substitution - Missense Upper_aerodigestive_tract COSM3711335 ZMYM6 c.3816G>A p.M1272I Substitution - Missense Upper_aerodigestive_tract COSM3726856 CHD2 c.1172_1173insA p.T392fs*11 Insertion - Frameshift Lung COSM3814726 BAZ1A c.3035G>C p.S1012T Substitution - Missense Breast COSM3940129 BRWD3 c.2872C>T p.R958W Substitution - Missense Oesophagus COSM3839733 SMEK2 c.1993G>A p.E665K Substitution - Missense Breast COSM3914250 ATRX c.6867C>T p.F2289F Substitution - coding silent Skin COSM3948317 ARID1B c.4209C>T p.G1403G Substitution - coding silent Lung COSM3952591 PSIP1 c.288G>T p.Q96H Substitution - Missense Lung COSM3954665 PRMT8 c.285G>A p.R95R Substitution - coding silent Lung COSM4034788 MTA2 c.2005T>A p.*669R Nonstop extension Stomach COSM4103007 SMARCB1 c.919T>G p.F307V Substitution - Missense Stomach COSM4101607 BRWD1 c.2169T>C p.A723A Substitution - coding silent Stomach COSM4093193 NCOA1 c.245G>T p.R82I Substitution - Missense Stomach COSM4102326 PRMT2 c.1019C>T p.T340M Substitution - Missense Stomach COSM4061200 CHD9 c.5220C>T p.A1740A Substitution - coding silent Stomach COSM4059647 GTF3C1 c.4162G>A p.E1388K Substitution - Missense Stomach COSM4141003 DNMT3A c.1647C>T p.C549C Substitution - coding silent Ovary COSM4139283 DAXX c.1251+5G>A p.? Unknown Pancreas COSM4143992 KDM4A c.1445C>A p.A482E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4152489 PBRM1 c.3875+1G>T p.? Unknown Kidney COSM4170119 TET2 c.4355_4356insA p.V1454fs*24 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4383915 TET2 c.3722C>A p.A1241D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4490439 SIRT2 c.363C>T p.I121I Substitution - coding silent Skin COSM4578954 SRCAP c.1752T>C p.I584I Substitution - coding silent Bone COSM4538130 TRIM24 c.2504G>A p.G835E Substitution - Missense Skin COSM4483610 SETD2 c.1208C>T p.P403L Substitution - Missense Skin COSM4475258 KDM5A c.1974C>T p.V658V Substitution - coding silent Skin COSM4717511 PRDM5 c.741G>A p.S247S Substitution - coding silent Large_intestine COSM4767512 DAXX c.1084C>T p.R362W Substitution - Missense Biliary_tract COSM4736787 TRRAP c.8678C>T p.A2893V Substitution - Missense Large_intestine COSM4732666 TCF20 c.5343C>T p.A1781A Substitution - coding silent Large_intestine COSM4702476 KMT2C c.13337C>T p.A4446V Substitution - Missense Large_intestine COSM4763645 NSD1 c.2332T>G p.L778V Substitution - Missense Stomach COSM4775689 NCOA7 c.573+9A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4759865 INTS12 c.1171A>C p.S391R Substitution - Missense Stomach COSM4777698 NCOA2 c.541delG p.V181fs*1 Deletion - Frameshift Prostate COSM4804004 SMYD2 c.978G>T p.E326D Substitution - Missense Liver COSM4793036 BPTF c.5553A>G p.P1851P Substitution - coding silent Liver COSM4884428 TDRD6 c.170G>A p.R57H Substitution - Missense Upper_aerodigestive_tract COSM4959295 CHD6 c.2002-1G>A p.? Unknown Liver COSM5007328 ACTR5 c.1733G>A p.R578H Substitution - Missense Large_intestine COSM5347299 HNF1A c.1107+3_1109del127 p.? Unknown Liver COSM5413339 ARID1A c.1633C>A p.P545T Substitution - Missense Skin COSM5511062 GATAD2A c.851G>A p.R284H Substitution - Missense Biliary_tract COSM5510566 CHD4 c.4166G>A p.R1389H Substitution - Missense Biliary_tract COSM5463122 ATAD2B_ENST00000238789 c.2436T>C p.P812P Substitution - coding silent Large_intestine COSM5426311 C5orf35 c.590G>A p.R197K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5435217 ZMYM3 c.727G>A p.V243I Substitution - Missense Oesophagus COSM5748960 ZMYM3 c.2206C>T p.R736C Substitution - Missense Pancreas COSM5684688 MBD5 c.2736C>A p.H912Q Substitution - Missense Soft_tissue COSM5660154 STK31 c.2227C>A p.R743S Substitution - Missense Soft_tissue COSM5749690 SFMBT2 c.2477T>G p.V826G Substitution - Missense Genital_tract COSM5573678 UHRF1 c.246C>T p.I82I Substitution - coding silent Prostate COSM5547131 KDM6A c.1856_1857delAT p.H619fs*19 Deletion - Frameshift Prostate COSM5788145 EYA4 c.970+5A>G p.? Unknown Breast COSM5834718 PBRM1 c.4575_4576insA p.A1526fs*>58 Insertion - Frameshift Breast COSM5868375 PRDM9 c.916G>A p.D306N Substitution - Missense Skin COSM5944120 ASXL1 c.2309_2309delC p.S770fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5887443 SRCAP c.5212C>T p.P1738S Substitution - Missense Skin COSM5934003 DIDO1 c.5246C>T p.P1749L Substitution - Missense Skin COSM5966629 FXR1 c.1838A>T p.E613V Substitution - Missense Adrenal_gland COSM5978752 ACTL6A c.678_678+1insGAAGCT p.A228_V229insEA Insertion - In frame Upper_aerodigestive_tract COSM5997452 KMT2C c.3573A>G p.T1191T Substitution - coding silent Prostate COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM5031023 KDM6A c.? p.S769* Substitution - Nonsense Central_nervous_system COSM51384 IDH1 c.? p.R132L Substitution - Missense Central_nervous_system COSM3738498 TET2 c.? p.T1280I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM97048 IDH2 c.? p.R140? Unknown Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM3734721 MSH6 c.? p.? Substitution - Missense Central_nervous_system COSM5611223 ARID1A c.2740_2741GG>AA p.G914N Substitution - Missense Skin COSM4491016 DNMT3B c.336C>T p.S112S Substitution - coding silent Skin COSM1178610 AKAP1 c.239A>G p.K80R Substitution - Missense Prostate COSM1012903 ASXL1 c.4394A>G p.K1465R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM231055 PRDM9 c.1790C>G p.T597S Substitution - Missense Large_intestine COSM53203 ASXL1 c.1918_1928del11 p.A640fs*14 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3369035 MPHOSPH8 c.739A>T p.K247* Substitution - Nonsense Thyroid COSM3322606 PHF19 c.624G>A p.L208L Substitution - coding silent Large_intestine COSM5993374 TDRD5 c.51A>T p.S17S Substitution - coding silent Prostate COSM1427432 PRMT10 c.1199T>C p.I400T Substitution - Missense Large_intestine COSM3022421 ARID1B c.5124C>T p.D1708D Substitution - coding silent Prostate COSM1692495 ZCWPW2 c.814G>A p.E272K Substitution - Missense Urinary_tract COSM4405994 KMT2D c.2407G>A p.E803K Substitution - Missense Skin COSM1317796 MGA c.7162_7163delTG p.V2389fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1383597 HDAC5 c.1871C>A p.A624D Substitution - Missense Large_intestine COSM4558877 SRCAP c.7840G>A p.G2614S Substitution - Missense Skin COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384100 NSD1 c.7817delC p.P2607fs*12 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4473799 PHIP c.1874C>T p.S625F Substitution - Missense Skin COSM740039 EYA4 c.972A>T p.G324G Substitution - coding silent Lung COSM5713242 TDRD3 c.938_940delATA p.N315delN Deletion - In frame Central_nervous_system COSM4147408 CHD4 c.1006A>C p.T336P Substitution - Missense Upper_aerodigestive_tract COSM1023549 SMYD1 c.227G>A p.R76H Substitution - Missense Endometrium COSM4140997 NCOA1 c.3304C>A p.P1102T Substitution - Missense Ovary COSM1262937 PRDM1 c.640G>A p.V214M Substitution - Missense Oesophagus COSM5743822 CHD3 c.1049G>A p.G350D Substitution - Missense Small_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3526974 L3MBTL4 c.1239G>A p.K413K Substitution - coding silent Skin COSM3739473 KDM2B c.831C>G p.G277G Substitution - coding silent Liver COSM41737 TET2 c.3859T>C p.F1287L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5945836 DNMT3A c.? p.Y735C Substitution - Missense Peritoneum COSM5547102 BAZ2A c.1042_1056del15 p.G348_G352delGGLYG Deletion - In frame Prostate COSM420224 PRDM5 c.703C>T p.Q235* Substitution - Nonsense Urinary_tract COSM969486 CCDC101 c.480C>A p.D160E Substitution - Missense Endometrium COSM243093 ATAD2B_ENST00000238789 c.3759G>A p.P1253P Substitution - coding silent Prostate COSM3395976 JMJD1C c.1935G>T p.W645C Substitution - Missense Prostate COSM5752612 NCOR1 c.6121C>T p.Q2041* Substitution - Nonsense Breast COSM1629921 CHD9 c.6112A>G p.K2038E Substitution - Missense Liver COSM4911234 KDM5C c.509G>T p.G170V Substitution - Missense Liver COSM4839161 TBL1XR1 c.905A>C p.Q302P Substitution - Missense Cervix COSM43417 TET2 c.2746C>T p.Q916* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM308472 PBRM1 c.2684_2685insT p.H897fs*4 Insertion - Frameshift Kidney COSM85916 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3755699 AKAP1 c.967G>A p.G323S Substitution - Missense Liver COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3379707 ZMYM3 c.3502C>G p.L1168V Substitution - Missense Pancreas COSM255877 PRDM15 c.2073C>T p.T691T Substitution - coding silent Central_nervous_system COSM423121 PBRM1 c.3454delC p.H1152fs*7 Deletion - Frameshift Kidney COSM277378 SMARCA2 c.4261C>T p.R1421* Substitution - Nonsense Large_intestine COSM4437802 SRCAP c.7946G>C p.S2649T Substitution - Missense Oesophagus COSM21740 SMARCA1 c.1815+1G>A p.? Unknown Skin COSM1342102 ZMYM6 c.1980G>T p.K660N Substitution - Missense Large_intestine COSM5695120 NCOA1 c.1377G>T p.Q459H Substitution - Missense Soft_tissue COSM51863 ARID1A c.3059G>A p.R1020K Substitution - Missense Kidney COSM3804872 EYA3 c.396T>G p.G132G Substitution - coding silent Breast COSM3650673 PRDM14 c.822C>T p.I274I Substitution - coding silent Stomach COSM3650078 CHD7 c.4334G>C p.R1445T Substitution - Missense Skin COSM255059 KMT2C c.4019delG p.S1340fs*5 Deletion - Frameshift Urinary_tract COSM1659477 BAP1 c.1252delT p.Y418fs*12 Deletion - Frameshift Kidney COSM4538713 TCF20 c.2591G>T p.R864I Substitution - Missense Skin COSM3508382 CCDC101 c.261C>T p.I87I Substitution - coding silent Skin COSM5477105 TDRD1 c.1766G>A p.R589K Substitution - Missense Large_intestine COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1054431 WHSC1 c.1502G>A p.R501H Substitution - Missense Large_intestine COSM4694053 MYST3 c.5145T>C p.P1715P Substitution - coding silent Large_intestine COSM1689313 TDRD5 c.1478G>A p.R493K Substitution - Missense Skin COSM1341913 PHC2 c.63C>T p.S21S Substitution - coding silent Large_intestine COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM223128 SHPRH c.4341G>T p.W1447C Substitution - Missense Skin COSM4387420 BAP1 c.40_52del13 p.L14fs*54 Deletion - Frameshift Eye COSM972490 CTCF c.1342C>T p.R448* Substitution - Nonsense Endometrium COSM5359456 KIAA1045 c.778C>T p.R260* Substitution - Nonsense Large_intestine COSM1565468 INO80B c.589G>T p.E197* Substitution - Nonsense Large_intestine COSM1183833 ASXL1 c.74C>T p.S25L Substitution - Missense Large_intestine COSM3717948 MBD2 c.493A>G p.I165V Substitution - Missense Liver COSM3365352 SETD2 c.3489T>G p.Y1163* Substitution - Nonsense Kidney COSM1978012 PRDM10 c.2058C>T p.H686H Substitution - coding silent Large_intestine COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Biliary_tract COSM5450192 SHPRH c.1800C>T p.H600H Substitution - coding silent Large_intestine COSM423074 PBRM1 c.1577delT p.L526fs*43 Deletion - Frameshift Kidney COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Bone COSM3761491 EYA4 c.829G>A p.G277S Substitution - Missense Liver COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM954564 PRMT5 c.1407T>C p.T469T Substitution - coding silent Endometrium COSM4041986 ARID2 c.1100A>T p.D367V Substitution - Missense Stomach COSM4818060 KMT2C c.2218G>A p.E740K Substitution - Missense Cervix COSM3824340 PBRM1 c.3040G>C p.E1014Q Substitution - Missense Breast COSM33306 KMT2C c.5716C>T p.R1906* Substitution - Nonsense Upper_aerodigestive_tract COSM2157140 MSL3 c.1282-1G>A p.? Unknown Central_nervous_system COSM4967929 ATRX c.3971C>G p.S1324* Substitution - Nonsense Adrenal_gland COSM3763347 MYST3 c.4455C>T p.S1485S Substitution - coding silent Soft_tissue COSM5879652 ASXL1 c.1849_1850insT p.K618fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM254671 EP300 c.193C>T p.Q65* Substitution - Nonsense Urinary_tract COSM231212 JMJD1C c.6705C>A p.H2235Q Substitution - Missense Skin COSM379510 TAF1 c.882C>T p.Y294Y Substitution - coding silent Lung COSM1423177 SETMAR c.344delT p.F116fs*58 Deletion - Frameshift Breast COSM1103 SMARCB1 c.?_?del? p.?del Deletion - In frame Soft_tissue COSM677849 TDRD5 c.20T>C p.I7T Substitution - Missense Lung COSM4151796 BAHCC1 c.208G>A p.A70T Substitution - Missense Kidney COSM3839142 NCOA1 c.3938A>G p.N1313S Substitution - Missense Breast COSM231103 HDAC9 c.2684+2T>C p.? Unknown Skin COSM5982225 KDM6B c.1537C>T p.R513C Substitution - Missense Upper_aerodigestive_tract COSM5908159 SP140_ENST00000392045 c.1153G>A p.G385R Substitution - Missense Skin COSM21124 STK31 c.2578G>T p.V860L Substitution - Missense Lung COSM3735001 TET2 c.? p.T270fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM5969873 SIRT1 c.1007A>G p.E336G Substitution - Missense Upper_aerodigestive_tract COSM420582 GABRG1 c.709C>G p.Q237E Substitution - Missense Urinary_tract COSM5599096 ASH1L c.8072G>A p.R2691Q Substitution - Missense Skin COSM5894938 KMT2A c.3570-5C>T p.? Unknown Skin COSM5060291 WHSC1 c.278C>T p.A93V Substitution - Missense Stomach COSM3461599 KMT2D c.2463C>T p.L821L Substitution - coding silent Skin COSM127160 NSD1 c.4192+1G>T p.? Unknown Upper_aerodigestive_tract COSM4941755 SETD1A c.1456A>G p.S486G Substitution - Missense Liver COSM5584571 BRDT c.2595G>A p.R865R Substitution - coding silent Skin COSM22613 MEN1 c.37_97del61 p.L13fs*86 Deletion - Frameshift Pancreas COSM3365366 BAP1 c.67+2T>G p.? Unknown Kidney COSM5996461 KDM1B c.1091C>A p.S364Y Substitution - Missense Prostate COSM1709004 GTF3C1 c.4142C>T p.A1381V Substitution - Missense Skin COSM3622279 ARID1B c.3743T>C p.M1248T Substitution - Missense Skin COSM398402 MGMT c.590C>A p.A197D Substitution - Missense Lung COSM4758005 BAHCC1 c.7645G>A p.E2549K Substitution - Missense Stomach COSM5656310 CREBBP c.4478T>A p.I1493K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM86959 IDH2 c.472C>A p.P158T Substitution - Missense Skin COSM1030474 SETD4 c.6G>A p.Q2Q Substitution - coding silent Endometrium COSM339658 BPTF c.7471A>T p.T2491S Substitution - Missense Lung COSM4384282 EZH2 c.1355delA p.Y452fs*11 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3682800 CDY2B c.1114A>C p.N372H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5510569 CHD4 c.1407_1409delTTC p.S470delS Deletion - In frame Biliary_tract COSM758310 BRWD3 c.4462C>T p.H1488Y Substitution - Missense Lung COSM234681 MECOM c.1629G>A p.K543K Substitution - coding silent Skin COSM251388 ARID1A c.5770G>AA p.E1924fs Complex Liver COSM254669 EP300 c.4662G>C p.K1554N Substitution - Missense Urinary_tract COSM1559373 HNF1A c.1545G>A p.T515T Substitution - coding silent Large_intestine COSM4394820 NCOA7 c.1153C>T p.P385S Substitution - Missense Skin COSM1608333 INOC1 c.2324A>G p.Y775C Substitution - Missense Liver COSM226617 KMT2C c.3401G>A p.S1134N Substitution - Missense Central_nervous_system COSM1704636 KMT2A c.6782C>T p.S2261F Substitution - Missense Skin COSM2820582 DNMT3L c.184C>T p.H62Y Substitution - Missense Liver COSM4098455 CHD6 c.3177G>A p.S1059S Substitution - coding silent Stomach COSM1047218 SFMBT1 c.1661G>A p.R554H Substitution - Missense Endometrium COSM925903 PRMT3 c.862G>T p.E288* Substitution - Nonsense Endometrium COSM729202 MECOM c.2751G>T p.V917V Substitution - coding silent Lung COSM3486482 SMYD3 c.153C>T p.F51F Substitution - coding silent Skin COSM3463402 SMARCC2 c.712C>T p.H238Y Substitution - Missense Skin COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4482152 ZMYND8 c.2578C>T p.L860L Substitution - coding silent Skin COSM4445162 CHD7 c.583C>T p.R195C Substitution - Missense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4591901 NCOR1 c.618+6T>A p.? Unknown Upper_aerodigestive_tract COSM1752481 DNMT3A c.632A>C p.K211T Substitution - Missense Urinary_tract COSM213501 AIRE c.1531C>G p.L511V Substitution - Missense Breast COSM1002785 TRIM28 c.2120T>C p.V707A Substitution - Missense Endometrium COSM4602765 SETBP1 c.46G>A p.E16K Substitution - Missense Upper_aerodigestive_tract COSM4603246 RNF134 c.84_85insGCCTCC p.P28_V29insAS Insertion - In frame Upper_aerodigestive_tract COSM4105078 HDAC10 c.1090G>A p.A364T Substitution - Missense Stomach COSM695862 ZMYM5 c.625C>T p.Q209* Substitution - Nonsense Lung COSM159175 ARID1B c.4829C>T p.S1610F Substitution - Missense Breast COSM5056312 BRD4 c.530A>C p.K177T Substitution - Missense Stomach COSM4666077 BRD1 c.1966C>T p.R656C Substitution - Missense Large_intestine COSM1367544 TDRD3 c.1070G>A p.G357D Substitution - Missense Large_intestine COSM1629539 MGA c.2981A>T p.K994M Substitution - Missense Liver COSM164861 TET2 c.1366G>A p.E456K Substitution - Missense Breast COSM5776276 EHMT2 c.136C>T p.R46C Substitution - Missense Breast COSM94244 ERCC6 c.3954G>T p.R1318S Substitution - Missense Lung COSM4453493 TRIM33 c.3032A>G p.Q1011R Substitution - Missense Skin COSM96371 BAP1 c.2057-4G>T p.? Unknown Pleura COSM3508931 SRCAP c.9068C>T p.P3023L Substitution - Missense Skin COSM708185 SMCHD1 c.545C>T p.P182L Substitution - Missense Lung COSM4165466 ZMYND11 c.1215C>A p.A405A Substitution - coding silent Kidney COSM5483286 KIAA1045 c.697C>T p.R233W Substitution - Missense Large_intestine COSM4733149 TET2 c.2851G>T p.A951S Substitution - Missense Large_intestine COSM3726843 KDM1B c.1691_1692insA p.T565fs*>27 Insertion - Frameshift Lung COSM5494703 TRIM28 c.284C>T p.A95V Substitution - Missense Biliary_tract COSM5055625 AKAP1 c.2365G>A p.V789M Substitution - Missense Stomach COSM1327506 DIDO1 c.5199C>T p.T1733T Substitution - coding silent Ovary COSM378500 ING3 c.475G>T p.D159Y Substitution - Missense Lung COSM1246241 BRPF1 c.1095G>A p.T365T Substitution - coding silent Oesophagus COSM3736469 MYST3 c.401T>C p.L134S Substitution - Missense Soft_tissue COSM3808059 HELLS c.2207C>T p.A736V Substitution - Missense Breast COSM3598848 TET2 c.137C>T p.P46L Substitution - Missense Skin COSM1718743 EP400 c.1296G>A p.E432E Substitution - coding silent Bone COSM4441156 NCOR1 c.2588C>A p.A863D Substitution - Missense Large_intestine COSM1290883 BRD4 c.1445C>A p.P482Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3906186 EHMT1 c.2988C>T p.N996N Substitution - coding silent Stomach COSM4077879 SIRT2 c.402C>T p.L134L Substitution - coding silent Stomach COSM4107987 HCFC1 c.1047G>A p.L349L Substitution - coding silent Stomach COSM3296123 MBD5 c.1224A>T p.P408P Substitution - coding silent Upper_aerodigestive_tract COSM5724047 TDRD1 c.3203C>T p.S1068F Substitution - Missense Skin COSM4991198 DNMT1 c.3868A>T p.M1290L Substitution - Missense Skin COSM4990277 KMT2D c.331C>T p.P111S Substitution - Missense Skin COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Soft_tissue COSM1602148 ARID1A c.3972delC p.P1326fs*155 Deletion - Frameshift Endometrium COSM4613065 DPF1 c.533delG p.G178fs*88 Deletion - Frameshift Large_intestine COSM255708 HCFC1 c.768C>A p.D256E Substitution - Missense Central_nervous_system COSM3930396 TDRKH c.985C>T p.R329C Substitution - Missense Urinary_tract COSM1562160 KDM5A c.4211C>A p.S1404Y Substitution - Missense Large_intestine COSM3480146 RNF2 c.358T>C p.Y120H Substitution - Missense Skin COSM3991180 ATAD2B_ENST00000238789 c.1859C>G p.A620G Substitution - Missense Kidney COSM300626 PYGO1 c.1045G>A p.E349K Substitution - Missense Large_intestine COSM37029 EZH2 c.1937A>C p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2828892 SETD5_ENST00000402198 c.4178G>A p.S1393N Substitution - Missense Upper_aerodigestive_tract COSM166529 DNMT3A c.1769delG p.G590fs*61 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4910980 ARID1B c.3160T>A p.W1054R Substitution - Missense Liver COSM5026083 ACTL6A c.733C>T p.Q245* Substitution - Nonsense Breast COSM5500576 BAZ1A c.1652A>C p.E551A Substitution - Missense Biliary_tract COSM4993534 KDM6A c.2047C>T p.P683S Substitution - Missense Skin COSM211751 TET2 c.5711A>G p.H1904R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3780514 SMC1A c.2705A>G p.N902S Substitution - Missense Pancreas COSM739327 NCOA7 c.1479G>T p.M493I Substitution - Missense Lung COSM5879087 EZH2 c.1877T>C p.V626A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3747655 ARID1B c.6513A>C p.P2171P Substitution - coding silent Liver COSM1425904 MINA c.549C>T p.V183V Substitution - coding silent Large_intestine COSM3514568 NCOR1 c.460G>A p.E154K Substitution - Missense Skin COSM360006 PRDM9 c.936G>T p.W312C Substitution - Missense Lung COSM1008 SMARCB1 c.454A>G p.N152D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1333944 VPS72 c.473G>A p.R158Q Substitution - Missense Large_intestine COSM4798874 RAG2 c.1331T>A p.I444N Substitution - Missense Liver COSM41902 TET2 c.? p.K1911_L1916del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM3883772 TRRAP c.10287C>T p.F3429F Substitution - coding silent Stomach COSM21471 HNF1A c.617G>T p.W206L Substitution - Missense Liver COSM3473721 TDRKH c.544G>A p.E182K Substitution - Missense Skin COSM5078794 SUZ12 c.406G>T p.D136Y Substitution - Missense Large_intestine COSM3656502 SMARCA2 c.2233G>A p.G745R Substitution - Missense Skin COSM4681148 EP400 c.9235G>A p.A3079T Substitution - Missense Large_intestine COSM5587210 ARID1A c.3214A>T p.K1072* Substitution - Nonsense Skin COSM5218330 WDR5 c.9_11delGGA p.E5delE Deletion - In frame Breast COSM4046659 RNF17 c.344A>C p.K115T Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5613270 KAT6B c.1072A>T p.S358C Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4159761 NSD1 c.6903G>C p.G2301G Substitution - coding silent Soft_tissue COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM989 SMARCB1 c.1130G>A p.R377H Substitution - Missense Meninges COSM1386348 ZBTB4 c.11delC p.P4fs*4 Deletion - Frameshift Stomach COSM4695481 KIAA1045 c.1073A>G p.D358G Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM296782 PRDM10 c.2296C>T p.R766C Substitution - Missense Large_intestine COSM1262055 PHF21A c.291_293delACA p.Q100delQ Deletion - In frame Stomach COSM4064332 RAI1 c.1686C>T p.D562D Substitution - coding silent Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5687579 MBD2 c.246T>G p.R82R Substitution - coding silent Soft_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5580290 ATAD2B_ENST00000238789 c.2162A>T p.E721V Substitution - Missense Skin COSM1343977 PHF13 c.697G>A p.V233M Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM437712 CHD3 c.632C>T p.A211V Substitution - Missense Endometrium COSM4154976 KDM5C c.1636G>A p.E546K Substitution - Missense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4787822 KDM6A c.853C>T p.Q285* Substitution - Nonsense Liver COSM3384418 KMT2D c.1954C>T p.R652C Substitution - Missense Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3709942 SFMBT2 c.1880G>A p.R627H Substitution - Missense Upper_aerodigestive_tract COSM2195863 BAZ1A c.4578delT p.H1527fs*>30 Deletion - Frameshift Large_intestine COSM5986185 SETD2 c.1557C>A p.D519E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1632296 CHD6 c.7851A>G p.V2617V Substitution - coding silent Liver COSM5726504 EP300 c.1462G>A p.A488T Substitution - Missense Skin COSM271712 MBD6 c.2073_2074insC p.Q694fs*23 Insertion - Frameshift Large_intestine COSM429386 PHRF1 c.3044_3055del12 p.G1019_S1022delGTRS Deletion - In frame Endometrium COSM1234988 ASXL1 c.2122C>T p.Q708* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5499318 BAHCC1 c.5011_5013delAAG p.K1674delK Deletion - In frame Biliary_tract COSM5562325 TDRD5 c.1173A>G p.P391P Substitution - coding silent Prostate COSM707932 INO80C c.564G>T p.T188T Substitution - coding silent Lung COSM3637045 HDAC9 c.1570C>T p.P524S Substitution - Missense Skin COSM1496340 PHF1 c.1008T>C p.P336P Substitution - coding silent Kidney COSM1122193 HDAC6 c.1751G>A p.G584D Substitution - Missense Endometrium COSM5662891 PRDM9 c.1540delG p.V514fs*3 Deletion - Frameshift Soft_tissue COSM5932152 STK31 c.1245G>A p.W415* Substitution - Nonsense Skin COSM3296114 MBD5 c.852T>C p.P284P Substitution - coding silent Upper_aerodigestive_tract COSM1713477 CHD6 c.2869C>T p.R957W Substitution - Missense Skin COSM3936468 CHD8 c.5989C>T p.L1997L Substitution - coding silent Oesophagus COSM444187 DIDO1 c.4572A>C p.P1524P Substitution - coding silent Breast COSM4564040 ASXL3 c.2409_2410GA>AT p.R804* Substitution - Nonsense Skin COSM1123043 SMC1A c.101A>G p.N34S Substitution - Missense Endometrium COSM3777037 HDAC2 c.610G>A p.E204K Substitution - Missense Skin COSM4010182 RERE c.4264G>A p.V1422M Substitution - Missense Stomach COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM21472 HNF1A c.872_884del13 p.P291fs*47 Deletion - Frameshift Liver COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43442 TET2 c.5104C>T p.Q1702* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51446 ARID1A c.1177C>T p.Q393* Substitution - Nonsense Upper_aerodigestive_tract COSM52980 EZH2 c.2069G>A p.R690H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM107386 DIDO1 c.3988C>T p.P1330S Substitution - Missense Skin COSM111957 CHD5 c.3969_3970insAT p.L1324fs*78 Insertion - Frameshift Ovary COSM118949 JMJD1C c.4619+1G>T p.? Unknown Ovary COSM118842 PRMT1 c.873G>A p.T291T Substitution - coding silent Ovary COSM165112 TRDMT1 c.463G>A p.G155S Substitution - Missense Breast COSM176245 SMARCD1 c.431G>A p.R144Q Substitution - Missense Large_intestine COSM215605 MGA c.5650G>C p.G1884R Substitution - Missense Central_nervous_system COSM255004 KDM6A c.3668G>A p.G1223D Substitution - Missense Urinary_tract COSM282815 KMT2A c.7989A>G p.G2663G Substitution - coding silent Large_intestine COSM298325 ARID1A c.3978_3980delGCA p.Q1334delQ Deletion - In frame Breast COSM298325 ARID1A c.3978_3980delGCA p.Q1334delQ Deletion - In frame Upper_aerodigestive_tract COSM291735 CREBBP c.5039_5041delCCT p.S1680delS Deletion - In frame Skin COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Upper_aerodigestive_tract COSM362164 BRWD1 c.6016A>G p.S2006G Substitution - Missense Lung COSM363042 SRCAP c.3019C>T p.R1007W Substitution - Missense Lung COSM368367 GLYR1 c.465C>G p.G155G Substitution - coding silent Lung COSM386838 BPTF c.8633G>T p.R2878L Substitution - Missense Lung COSM423065 PBRM1 c.1305delA p.K436fs*2 Deletion - Frameshift Kidney COSM425545 ACTA1 c.762C>A p.N254K Substitution - Missense Breast COSM445982 TBL1XR1 c.1489A>T p.K497* Substitution - Nonsense Breast COSM442212 IDH1 c.704A>G p.Y235C Substitution - Missense Breast COSM456904 FMR1 c.859C>G p.Q287E Substitution - Missense Breast COSM985385 KDM6B c.3999C>A p.D1333E Substitution - Missense Endometrium COSM481295 GABRG1 c.1260A>G p.E420E Substitution - coding silent Kidney COSM4897096 UHRF1 c.477G>A p.T159T Substitution - coding silent Skin COSM605677 MYST3 c.1305G>A p.E435E Substitution - coding silent Large_intestine COSM1017656 SP100 c.1292C>A p.A431D Substitution - Missense Endometrium COSM1026104 NCOA6 c.1305C>T p.F435F Substitution - coding silent Endometrium COSM1030659 BRWD1 c.6542C>T p.T2181M Substitution - Missense Stomach COSM939248 KDM5A c.2678G>A p.R893Q Substitution - Missense Endometrium COSM919611 SIRT1 c.845G>A p.R282H Substitution - Missense Endometrium COSM721728 MSH6 c.1011G>A p.L337L Substitution - coding silent Lung COSM908301 HDAC1 c.1397_1399delAGG p.E468delE Deletion - In frame Biliary_tract COSM969927 SRCAP c.2107A>C p.K703Q Substitution - Missense Endometrium COSM1098854 ELP3 c.1106T>G p.I369S Substitution - Missense Endometrium COSM1100840 CHD7 c.5530G>T p.D1844Y Substitution - Missense Endometrium COSM1099544 ASH2L c.1757C>T p.P586L Substitution - Missense Endometrium COSM1238502 CHD8 c.5272C>T p.R1758C Substitution - Missense Oesophagus COSM1250503 DNMT3L c.538G>A p.E180K Substitution - Missense Skin COSM1228044 SUV420H1 c.2326A>G p.K776E Substitution - Missense Large_intestine COSM1250598 DOT1L c.4499C>T p.S1500F Substitution - Missense Oesophagus COSM1176552 PRDM15 c.2149C>A p.L717I Substitution - Missense Endometrium COSM1179848 KDM6A c.3111G>A p.Q1037Q Substitution - coding silent Soft_tissue COSM1169567 PBRM1 c.235_235delA p.R79fs*16 Deletion - Frameshift Kidney COSM1312287 CDYL c.1335C>T p.V445V Substitution - coding silent Urinary_tract COSM1322478 KMT2D c.10209T>A p.L3403L Substitution - coding silent Ovary COSM1363049 SMARCC2 c.2373C>T p.S791S Substitution - coding silent Large_intestine COSM1341407 ARID1A c.3340delC p.P1115fs*46 Deletion - Frameshift Large_intestine COSM1561660 KAT5 c.593delC p.P199fs*47 Deletion - Frameshift Large_intestine COSM1476242 HNF1A c.378C>A p.H126Q Substitution - Missense Breast COSM1616123 AIRE c.1194G>A p.P398P Substitution - coding silent Liver COSM1675221 ERCC6 c.2569C>T p.R857* Substitution - Nonsense Large_intestine COSM1686157 RAG2 c.898C>T p.R300C Substitution - Missense Skin COSM1663845 RBBP5 c.487G>A p.G163R Substitution - Missense Kidney COSM1731622 KMT2C c.8266A>G p.I2756V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1753137 KAT2B c.309G>A p.E103E Substitution - coding silent Urinary_tract COSM1753415 BRPF1 c.1789G>C p.D597H Substitution - Missense Urinary_tract COSM2044763 PHC1 c.1066A>T p.T356S Substitution - Missense Large_intestine COSM2157040 BAHD1 c.2229C>T p.D743D Substitution - coding silent Central_nervous_system COSM2879307 CXXC1 c.1813C>T p.R605C Substitution - Missense Large_intestine COSM2931179 DIDO1 c.2236C>T p.R746C Substitution - Missense Stomach COSM2965452 KDM6A c.3600T>A p.L1200L Substitution - coding silent Upper_aerodigestive_tract COSM3008216 PRDM5 c.1369A>C p.R457R Substitution - coding silent Large_intestine COSM3296246 EPC2 c.54T>C p.P18P Substitution - coding silent Upper_aerodigestive_tract COSM3371026 AP001011.3_ENST00000320876 c.1165A>G p.I389V Substitution - Missense Thyroid COSM3385205 GATAD2B c.1397T>C p.V466A Substitution - Missense Pancreas COSM3370507 CTCF c.1741G>C p.D581H Substitution - Missense Thyroid COSM3398026 MEN1 c.1256G>A p.G419D Substitution - Missense Central_nervous_system COSM3396082 BAZ2A_ENST00000379441 c.4578G>T p.Q1526H Substitution - Missense Prostate COSM3419406 PHF13 c.629G>A p.R210Q Substitution - Missense Large_intestine COSM3450131 GLYATL1 c.44C>T p.S15F Substitution - Missense Skin COSM3589909 MECOM c.235G>A p.E79K Substitution - Missense Skin COSM3567469 MBD5 c.4207T>A p.L1403I Substitution - Missense Skin COSM3523587 BAHCC1 c.2583C>T p.P861P Substitution - coding silent Skin COSM3656827 TAF1L c.5417G>A p.R1806K Substitution - Missense Skin COSM3656836 TAF1L c.4376C>T p.P1459L Substitution - Missense Skin COSM3704145 ARID2 c.1691C>T p.S564L Substitution - Missense Liver COSM3719516 TET2 c.3730_3731delCT p.Y1245fs*22 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3756115 AP001011.3_ENST00000320876 c.4137A>G p.A1379A Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3750274 TTF2 c.499A>G p.K167E Substitution - Missense Large_intestine COSM3763348 MYST3 c.2982G>A p.P994P Substitution - coding silent Large_intestine COSM3792372 EP400 c.4198C>T p.P1400S Substitution - Missense Urinary_tract COSM3907582 KIAA2026_ENST00000399933 c.1517G>A p.R506Q Substitution - Missense Stomach COSM3896555 ATAD2 c.2435C>A p.A812D Substitution - Missense Stomach COSM3900876 CHD7 c.6158G>A p.R2053Q Substitution - Missense Stomach COSM3888603 BRD7 c.329C>T p.P110L Substitution - Missense Skin COSM3970079 EZH1 c.1023+1G>T p.? Unknown Central_nervous_system COSM3956616 MGA c.1206G>A p.V402V Substitution - coding silent Lung COSM4007329 ZMYM6 c.1637T>C p.M546T Substitution - Missense Stomach COSM4053392 SETD3 c.1469G>A p.R490H Substitution - Missense Stomach COSM3986703 KDM2B c.1350G>T p.E450D Substitution - Missense Kidney COSM4104937 BRD1 c.1465G>A p.G489R Substitution - Missense Stomach COSM4097567 ASXL1 c.4242C>T p.P1414P Substitution - coding silent Stomach COSM4100186 DIDO1 c.4325A>T p.D1442V Substitution - Missense Stomach COSM4122215 PHF17 c.179A>G p.D60G Substitution - Missense Stomach COSM4060277 SETD1A c.3000G>C p.E1000D Substitution - Missense Stomach COSM4074022 SMARCA4 c.851G>T p.W284L Substitution - Missense Stomach COSM4072223 SETBP1 c.328A>G p.T110A Substitution - Missense Stomach COSM4075100 MBD3 c.612C>T p.P204P Substitution - coding silent Stomach COSM4130984 SETBP1 c.4398G>T p.E1466D Substitution - Missense Thyroid COSM4139458 KIAA2026_ENST00000399933 c.2136C>G p.F712L Substitution - Missense Lung COSM4161255 TDRD6 c.599T>G p.V200G Substitution - Missense Upper_aerodigestive_tract COSM4161255 TDRD6 c.599T>G p.V200G Substitution - Missense Upper_aerodigestive_tract COSM4385243 EP300 c.2297C>T p.P766L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4385246 EP300 c.2512C>A p.R838S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4419050 L3MBTL2 c.19A>G p.I7V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4593308 CREBBP c.6682C>G p.H2228D Substitution - Missense Upper_aerodigestive_tract COSM4429009 PRDM13 c.183G>A p.G61G Substitution - coding silent Oesophagus COSM4489196 CHD2 c.3444C>A p.L1148L Substitution - coding silent Skin COSM4523804 BAHD1 c.1234G>A p.E412K Substitution - Missense Skin COSM4580865 DOT1L c.1394C>T p.P465L Substitution - Missense Bone COSM4592047 AKAP1 c.1597A>C p.T533P Substitution - Missense Upper_aerodigestive_tract COSM4437808 CREBBP c.3874C>A p.Q1292K Substitution - Missense Oesophagus COSM4678905 DNMT3A c.364G>A p.A122T Substitution - Missense Large_intestine COSM4694955 KDM4B c.22G>A p.A8T Substitution - Missense Large_intestine COSM4697547 LBR c.586A>G p.T196A Substitution - Missense Large_intestine COSM4621701 PRDM13 c.403G>A p.E135K Substitution - Missense Large_intestine COSM4754791 MBTD1 c.1087G>C p.D363H Substitution - Missense Stomach COSM4754801 KMT2D c.15095T>G p.L5032R Substitution - Missense Stomach COSM4754944 BRD1 c.2688C>G p.I896M Substitution - Missense Stomach COSM4762137 ZBTB38 c.2335A>G p.K779E Substitution - Missense Stomach COSM4784007 BRD3 c.458A>G p.K153R Substitution - Missense Large_intestine COSM4912005 TDRD1 c.3410T>C p.M1137T Substitution - Missense Liver COSM5024993 KAT6B c.3251_3276>11 p.E1086_E1091>D Complex - deletion inframe Breast COSM5017433 ZCWPW1 c.657T>G p.G219G Substitution - coding silent Soft_tissue COSM5026455 DUSP1 c.715G>A p.E239K Substitution - Missense Breast COSM5026608 PRDM1 c.1312G>A p.G438R Substitution - Missense Breast COSM5051636 KMT2D c.7291C>T p.R2431W Substitution - Missense Stomach COSM5047377 MSH6 c.1744T>C p.F582L Substitution - Missense Oesophagus COSM5346908 ARID1A c.6830delA p.D2277fs*5 Deletion - Frameshift Endometrium COSM5387627 BAHCC1 c.1490C>T p.P497L Substitution - Missense Skin COSM5413317 ARID2 c.2350C>T p.P784S Substitution - Missense Skin COSM5472198 ARID1B c.6016A>G p.T2006A Substitution - Missense Large_intestine COSM5439604 SMARCD3 c.352A>C p.K118Q Substitution - Missense Oesophagus COSM5422582 NCOA1 c.16G>A p.D6N Substitution - Missense Prostate COSM5537571 PRDM9 c.763C>T p.Q255* Substitution - Nonsense Soft_tissue COSM5760786 ARID1A c.4564G>T p.A1522S Substitution - Missense Pancreas COSM5757438 PHF2 c.1831G>A p.D611N Substitution - Missense Large_intestine COSM5771184 BAZ2A_ENST00000379441 c.5532G>C p.R1844R Substitution - coding silent Breast COSM5721460 TAF3 c.2601C>T p.I867I Substitution - coding silent Skin COSM5716556 SMARCD2 c.528C>T p.L176L Substitution - coding silent Skin COSM5582851 TIF1 c.2321C>T p.S774F Substitution - Missense Skin COSM5611024 TRRAP c.5116C>G p.R1706G Substitution - Missense Skin COSM5710158 TDRD6 c.3517C>A p.L1173I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5565422 SIRT6 c.872G>C p.R291P Substitution - Missense Gastrointestinal_tract_(site_indeterminate) COSM5833576 L3MBTL4 c.982-5_982-2delAACA p.? Unknown Breast COSM5811371 ARID1B c.6086C>A p.P2029Q Substitution - Missense Liver COSM5881120 BRPF3 c.2747C>A p.A916D Substitution - Missense Soft_tissue COSM5944272 TET2 c.2657delA p.Q886fs*35 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5894610 GTF3C1 c.4551C>G p.S1517R Substitution - Missense Skin COSM6003024 PCGF2 c.826C>A p.L276M Substitution - Missense Prostate COSM6016146 SRCAP c.1087G>C p.D363H Substitution - Missense Skin COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM51384 IDH1 c.? p.R132L Substitution - Missense Central_nervous_system COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1685350 EZH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5945801 BAP1 c.? p.S460* Substitution - Nonsense Pleura COSM43463 TET2 c.?_?ins5 p.L560fs*? Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM4551385 KDM4C c.461G>A p.R154H Substitution - Missense Large_intestine COSM4663707 ASH2L c.1247T>C p.V416A Substitution - Missense Large_intestine COSM5343056 BAHCC1 c.380C>T p.S127L Substitution - Missense Large_intestine COSM86082 KMT2C c.2418C>G p.S806S Substitution - coding silent Large_intestine COSM4139020 PHF2 c.2946G>C p.T982T Substitution - coding silent Thyroid COSM5470219 CHD8 c.6539G>A p.R2180H Substitution - Missense Large_intestine COSM972491 CTCF c.1454A>G p.H485R Substitution - Missense Endometrium COSM2968168 SMC1A c.2700C>T p.G900G Substitution - coding silent Prostate COSM5021970 L3MBTL4 c.1642-10C>T p.? Unknown Bone COSM3958889 CHD3 c.2405G>T p.R802L Substitution - Missense Lung COSM1105987 PRDM12 c.451G>A p.D151N Substitution - Missense Endometrium COSM756636 SCML2 c.1995G>T p.L665L Substitution - coding silent Lung COSM381111 KIAA1045 c.438G>A p.P146P Substitution - coding silent Lung COSM675440 TDRKH c.809C>T p.S270F Substitution - Missense Lung COSM1228839 TDRD7 c.2720T>G p.L907* Substitution - Nonsense Large_intestine COSM1512173 ARID2 c.1426C>T p.Q476* Substitution - Nonsense Skin COSM3353152 TDRD6 c.5966C>T p.S1989L Substitution - Missense Large_intestine COSM1721370 TDRD10 c.316delA p.R107fs*9 Deletion - Frameshift Skin COSM249560 KMT2C c.5053G>T p.A1685S Substitution - Missense Central_nervous_system COSM1167587 FTO c.1489_1490delAG p.G498fs*>8 Deletion - Frameshift Skin COSM5818760 ACTB c.897G>T p.L299L Substitution - coding silent Liver COSM1757010 CHD6 c.4893C>T p.C1631C Substitution - coding silent Urinary_tract COSM3983447 KAT2A c.2418G>T p.E806D Substitution - Missense Ovary COSM472345 NCOR1 c.5544G>T p.R1848S Substitution - Missense Kidney COSM429983 EED c.619C>T p.L207L Substitution - coding silent Soft_tissue COSM703462 CHD9 c.8524G>C p.E2842Q Substitution - Missense Lung COSM13867 EP300 c.4355C>T p.P1452L Substitution - Missense Oesophagus COSM1668049 LMNA c.1147G>A p.E383K Substitution - Missense Large_intestine COSM132972 ASXL1 c.? p.E865* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1049789 INTS12 c.413T>G p.L138* Substitution - Nonsense Endometrium COSM2967981 KDM5C c.1674T>A p.D558E Substitution - Missense Large_intestine COSM730711 SETD2 c.3365G>A p.R1122H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM110732 BAP1 c.243C>A p.F81L Substitution - Missense Eye COSM5964755 TP53BP1 c.1317C>T p.S439S Substitution - coding silent Breast COSM3579788 ATAD2B_ENST00000238789 c.4274C>T p.S1425F Substitution - Missense Skin COSM3546349 CHD6 c.7781C>T p.S2594F Substitution - Missense Skin COSM4665994 BPTF c.1615A>G p.N539D Substitution - Missense Large_intestine COSM1710517 AKAP1 c.29C>T p.P10L Substitution - Missense Skin COSM4161823 TRIM24 c.26T>G p.V9G Substitution - Missense Thyroid COSM724822 DIDO1 c.1086A>C p.E362D Substitution - Missense Lung COSM4382632 POGZ c.2602C>T p.R868W Substitution - Missense Large_intestine COSM4450268 KMT2C c.5111delT p.L1704fs*13 Deletion - Frameshift Skin COSM4468354 LMNB2 c.93C>T p.R31R Substitution - coding silent Skin COSM3708738 BRWD3 c.2658T>C p.S886S Substitution - coding silent Liver COSM5789867 BPTF c.1611G>A p.L537L Substitution - coding silent Breast COSM1386948 CBX8 c.956_957insG p.L320fs*38 Insertion - Frameshift Large_intestine COSM5690133 CHD4 c.5716C>T p.Q1906* Substitution - Nonsense Soft_tissue COSM4146786 SETD8 c.364G>C p.G122R Substitution - Missense Thyroid COSM5604107 MPHOSPH8 c.2201T>A p.I734K Substitution - Missense Skin COSM5639247 WHSC1 c.3410C>T p.S1137F Substitution - Missense Oesophagus COSM4080158 PRMT1 c.1042T>C p.*348R Nonstop extension Stomach COSM1377462 SRCAP c.2547G>A p.M849I Substitution - Missense Large_intestine COSM4438859 KMT2C c.8302G>C p.D2768H Substitution - Missense Oesophagus COSM4695029 KDM5D c.638C>T p.A213V Substitution - Missense Large_intestine COSM1268375 TP53BP1 c.3080C>G p.A1027G Substitution - Missense Oesophagus COSM3737346 ATF7IP c.2987C>T p.S996F Substitution - Missense Soft_tissue COSM1703070 TDRD1 c.1850G>A p.G617E Substitution - Missense Skin COSM1360988 KDM5A c.5040T>A p.A1680A Substitution - coding silent Large_intestine COSM4896681 NCOA3 c.1905C>T p.S635S Substitution - coding silent Skin COSM30370 KMT2D c.10706A>G p.Q3569R Substitution - Missense Kidney COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Kidney COSM5835905 HCFC1 c.3972_3973insC p.C1325fs*2 Insertion - Frameshift Breast COSM3068832 SETD2 c.5850A>C p.K1950N Substitution - Missense Large_intestine COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1639811 ARID1A c.1060C>T p.Q354* Substitution - Nonsense Stomach COSM4532528 TRIM66 c.1892G>A p.S631N Substitution - Missense Skin COSM1679942 AKAP1 c.2473C>A p.L825I Substitution - Missense Large_intestine COSM1187022 BRPF3 c.1794G>C p.L598F Substitution - Missense Lung COSM1394661 KDM4B c.2889T>C p.P963P Substitution - coding silent Large_intestine COSM3598199 MINA c.868A>C p.I290L Substitution - Missense Skin COSM3879984 HDAC9 c.1849G>A p.A617T Substitution - Missense Stomach COSM1050498 PRDM5 c.1407C>T p.A469A Substitution - coding silent Endometrium COSM5156993 SP140_ENST00000392045 c.1954C>T p.R652* Substitution - Nonsense Large_intestine COSM1215015 MGA c.4306G>A p.A1436T Substitution - Missense Large_intestine COSM1681739 NCOA3 c.3148G>A p.E1050K Substitution - Missense Large_intestine COSM3294909 ZMYND8 c.1755G>T p.E585D Substitution - Missense Large_intestine COSM5085404 DIDO1 c.5985C>T p.S1995S Substitution - coding silent Prostate COSM4972098 BRPF3 c.707A>G p.N236S Substitution - Missense Thyroid COSM4277296 DNMT1 c.395T>C p.L132P Substitution - Missense Large_intestine COSM4454924 SETBP1 c.613A>G p.T205A Substitution - Missense Skin COSM1563055 SMEK1 c.887A>G p.N296S Substitution - Missense Large_intestine COSM1209432 HDGFL1 c.217C>T p.R73C Substitution - Missense Stomach COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Central_nervous_system COSM5574530 CREBBP c.5888A>G p.E1963G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5466177 CLOCK c.811G>T p.E271* Substitution - Nonsense Large_intestine COSM4001922 ZMYND8 c.2315T>C p.V772A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4682129 EYA2 c.1182C>T p.Y394Y Substitution - coding silent Large_intestine COSM5514104 NCOA6 c.3425C>T p.S1142F Substitution - Missense Biliary_tract COSM3877920 SND1 c.2547C>T p.G849G Substitution - coding silent Stomach COSM3201909 DPF1 c.285C>T p.C95C Substitution - coding silent Liver COSM5808893 NCOR1 c.6733G>A p.G2245S Substitution - Missense Liver COSM5760069 AKAP1 c.1711G>A p.G571R Substitution - Missense Bone COSM3737403 PRDM16 c.1704C>T p.G568G Substitution - coding silent Soft_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM231578 TET2 c.1037T>C p.L346P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1580169 MLL5 c.632C>A p.T211K Substitution - Missense Central_nervous_system COSM5419752 TRRAP c.2267A>G p.Y756C Substitution - Missense Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1363063 SMARCC2 c.837T>C p.D279D Substitution - coding silent Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4416780 KDM6B c.1782C>A p.P594P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3937746 SETBP1 c.1266G>A p.Q422Q Substitution - coding silent Oesophagus COSM3946446 CLOCK c.1540-3C>A p.? Unknown Lung COSM1074219 SHPRH c.752C>A p.S251Y Substitution - Missense Endometrium COSM5675717 NCOA6 c.6192A>C p.*2064Y Nonstop extension Soft_tissue COSM3844754 PHF16 c.1479G>T p.E493D Substitution - Missense Breast COSM4170029 TET2 c.4621C>T p.Q1541* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1618462 PRMT10 c.1222A>G p.I408V Substitution - Missense Liver COSM4663913 ASXL3 c.23G>A p.R8H Substitution - Missense Large_intestine COSM1239562 NCOR1 c.699C>T p.R233R Substitution - coding silent Oesophagus COSM5140766 PHF14 c.401delA p.E136fs*65 Deletion - Frameshift Large_intestine COSM309388 ATRX c.4754C>T p.S1585F Substitution - Missense Soft_tissue COSM5953200 ZCWPW2 c.717-9T>G p.? Unknown Oesophagus COSM5989993 TET2 c.4490C>A p.S1497* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1270407 WDR5 c.636C>T p.D212D Substitution - coding silent Oesophagus COSM2105524 KMT2A c.6610C>T p.R2204W Substitution - Missense Large_intestine COSM5599929 MGA c.4643C>T p.S1548F Substitution - Missense Skin COSM4494390 SRCAP c.4325C>G p.S1442C Substitution - Missense Skin COSM289077 HDAC9 c.1128G>A p.P376P Substitution - coding silent Large_intestine COSM263468 RTF1 c.490C>T p.R164* Substitution - Nonsense Large_intestine COSM285281 SP140_ENST00000392045 c.156G>T p.E52D Substitution - Missense Large_intestine COSM4803898 SIRT3 c.480G>T p.P160P Substitution - coding silent Liver COSM1308228 TCF20 c.3737C>G p.S1246C Substitution - Missense Urinary_tract COSM3736847 BRD8 c.673G>T p.G225C Substitution - Missense Upper_aerodigestive_tract COSM3364157 KDM5C c.1375A>T p.K459* Substitution - Nonsense Kidney COSM4671982 CHD3 c.3561C>T p.R1187R Substitution - coding silent Large_intestine COSM4669281 CARM1 c.1623G>A p.T541T Substitution - coding silent Large_intestine COSM468037 EP400 c.8226A>G p.Q2742Q Substitution - coding silent Skin COSM3966682 PHF13 c.840C>G p.S280S Substitution - coding silent Central_nervous_system COSM2270226 INOC1 c.1237G>C p.E413Q Substitution - Missense Oesophagus COSM1692814 BAP1 c.1547C>T p.P516L Substitution - Missense Skin COSM972495 CTCF c.1549C>T p.H517Y Substitution - Missense Endometrium COSM158731 PHF6 c.725G>A p.C242Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3831103 PHIP c.2326G>A p.A776T Substitution - Missense Breast COSM4015098 JMJD1C c.5253C>T p.S1751S Substitution - coding silent Stomach COSM3742402 BPTF c.8594A>C p.E2865A Substitution - Missense Liver COSM3097047 ATRX c.4586_4588delCCA p.T1529delT Deletion - In frame Large_intestine COSM3837456 ATF2 c.225C>A p.F75L Substitution - Missense Breast COSM3551319 DNMT3L c.1021G>A p.E341K Substitution - Missense Skin COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3922060 PHF3 c.2904T>C p.S968S Substitution - coding silent Skin COSM3390775 TAF1 c.4300G>A p.V1434M Substitution - Missense Pancreas COSM5682693 POGZ c.3607G>A p.E1203K Substitution - Missense Soft_tissue COSM1642887 SHPRH c.277delT p.S93fs*5 Deletion - Frameshift Large_intestine COSM966710 CHD2 c.2741G>A p.R914H Substitution - Missense Endometrium COSM1341433 ARID1A c.6529G>A p.G2177R Substitution - Missense Large_intestine COSM1386959 CBX4 c.690_691insC p.N231fs*81 Insertion - Frameshift Breast COSM4729244 SP110 c.1691delC p.P564fs*16 Deletion - Frameshift Large_intestine COSM1716707 ATRX c.4956_4956+8delGGTAACTTA p.? Unknown Central_nervous_system COSM4085893 BAZ2B c.900+2T>C p.? Unknown Stomach COSM43441 TET2 c.1819G>T p.G607* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM355924 KDM4A c.2231G>A p.R744Q Substitution - Missense Lung COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM223888 MYST2 c.421G>A p.D141N Substitution - Missense Skin COSM3820335 BPTF c.4868C>G p.S1623C Substitution - Missense Breast COSM926922 ALKBH3 c.824G>A p.R275Q Substitution - Missense Endometrium COSM3761112 DUSP1 c.166G>A p.A56T Substitution - Missense Large_intestine COSM4583359 HDAC4 c.174A>G p.S58S Substitution - coding silent Bone COSM82149 GABRG1 c.990G>A p.V330V Substitution - coding silent Ovary COSM6001715 RTF1 c.1303A>G p.I435V Substitution - Missense Prostate COSM722974 KDM3A c.3001G>T p.E1001* Substitution - Nonsense Lung COSM1348587 JMJD1C c.4202G>T p.R1401I Substitution - Missense Large_intestine COSM34090 IDH2 c.516G>T p.R172S Substitution - Missense Bone COSM1634362 BRD9 c.922delG p.D308fs*20 Deletion - Frameshift Liver COSM53009 EZH2 c.2079T>A p.N693K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM428990 PRDM11 c.927G>A p.V309V Substitution - coding silent Breast COSM5002406 CHD4 c.414G>T p.E138D Substitution - Missense Pancreas COSM680177 ARID1A c.2879-1G>C p.? Unknown Lung COSM5065509 ATAT1 c.798_799insC p.R269fs*43 Insertion - Frameshift Large_intestine COSM1581663 SETD2 c.770T>C p.L257P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3660906 SMARCA5 c.1595A>G p.Q532R Substitution - Missense Liver COSM1319437 KDM6A c.997C>A p.Q333K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM42015 TET2 c.5647_5647delA p.T1883fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3723034 PHF2 c.2976C>A p.T992T Substitution - coding silent Large_intestine COSM254815 KMT2A c.7556C>T p.T2519I Substitution - Missense Urinary_tract COSM421751 ATAD2 c.4111G>T p.D1371Y Substitution - Missense Urinary_tract COSM1264009 RERE c.1645G>A p.V549M Substitution - Missense Large_intestine COSM3731279 NCOA5 c.587G>A p.R196K Substitution - Missense Stomach COSM1240041 RERE c.818A>G p.N273S Substitution - Missense Oesophagus COSM961488 MGA c.83T>C p.L28S Substitution - Missense Endometrium COSM4392569 SIRT1 c.2018G>A p.S673N Substitution - Missense Prostate COSM318891 BAZ1B c.638C>T p.A213V Substitution - Missense Lung COSM5433727 PBRM1 c.180T>G p.Y60* Substitution - Nonsense Oesophagus COSM3604093 GABRG1 c.660G>A p.W220* Substitution - Nonsense Skin COSM3912229 DNMT3L c.903C>T p.F301F Substitution - coding silent Skin COSM4989484 KDM3B c.3622A>G p.I1208V Substitution - Missense Soft_tissue COSM5399472 SETD2 c.4077C>A p.T1359T Substitution - coding silent Skin COSM5889783 NCOA1 c.2030C>T p.P677L Substitution - Missense Skin COSM3756106 AP001011.3_ENST00000320876 c.174G>C p.A58A Substitution - coding silent Thyroid COSM5603085 CBX8 c.1011C>T p.I337I Substitution - coding silent Skin COSM353217 DHX30 c.520C>T p.R174* Substitution - Nonsense Lung COSM5794916 BTAF1 c.2675T>A p.L892Q Substitution - Missense Breast COSM1340892 SMYD3 c.52-1G>A p.? Unknown Large_intestine COSM1734653 TDRD6 c.4303A>G p.M1435V Substitution - Missense Pancreas COSM231563 DNMT3A c.2311C>T p.R771* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Soft_tissue COSM686170 KMT2A c.2364C>A p.A788A Substitution - coding silent Lung COSM5804832 SP140_ENST00000392045 c.835A>T p.R279* Substitution - Nonsense Liver COSM1609697 CDYL2 c.40G>T p.D14Y Substitution - Missense Liver COSM1360173 EP400 c.3276delT p.F1094fs*4 Deletion - Frameshift Soft_tissue COSM225202 PHF17 c.418C>T p.R140C Substitution - Missense Skin COSM3630740 ZCWPW1 c.43C>T p.P15S Substitution - Missense Skin COSM3911760 DIDO1 c.4089C>T p.I1363I Substitution - coding silent Skin COSM37029 EZH2 c.1937A>C p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4526579 CHD6 c.1403G>A p.G468E Substitution - Missense Skin COSM5026224 SMARCA5 c.1719A>G p.V573V Substitution - coding silent Breast COSM485087 KMT2C c.7043A>G p.Q2348R Substitution - Missense Kidney COSM348103 SND1 c.1158G>A p.K386K Substitution - coding silent Lung COSM37029 EZH2 c.1937A>C p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM308463 PBRM1 c.3124-1G>A p.? Unknown Kidney COSM4689725 HDAC9 c.1344C>T p.P448P Substitution - coding silent Large_intestine COSM5940641 SRCAP c.4181C>T p.P1394L Substitution - Missense Skin COSM4806471 EP400 c.121C>G p.P41A Substitution - Missense Liver COSM132983 ASXL1 c.? p.N842fs*2 Frameshift Haematopoietic_and_lymphoid_tissue COSM3763394 EYA1 c.1278C>T p.G426G Substitution - coding silent Large_intestine COSM1124794 ZMYM3 c.4049G>A p.R1350H Substitution - Missense Endometrium COSM1061315 KDM3B c.1376G>A p.G459E Substitution - Missense Endometrium COSM1468550 SMC1A c.1941G>T p.Q647H Substitution - Missense Large_intestine COSM5972495 BAHCC1 c.4766G>C p.G1589A Substitution - Missense Upper_aerodigestive_tract COSM720761 DNMT3A c.2375G>A p.R792H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1735411 RSF1 c.2398delA p.R800fs*24 Deletion - Frameshift Pancreas COSM28454 KDM5C c.1933G>T p.E645* Substitution - Nonsense Kidney COSM111693 KAT6B c.3289_3291delGAA p.E1097delE Deletion - In frame Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1731713 TET2 c.3986T>G p.L1329R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5924400 PHF10 c.273G>T p.E91D Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4761597 PHF15 c.848C>T p.P283L Substitution - Missense Stomach COSM5563822 MYST3 c.1665G>A p.Q555Q Substitution - coding silent Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM940002 KMT2D c.11875C>T p.R3959W Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4628570 MLL5 c.2407A>G p.R803G Substitution - Missense Large_intestine COSM116408 ACTR8 c.1573G>C p.D525H Substitution - Missense Ovary COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM228110 KMT2C c.1042G>A p.D348N Substitution - Missense Soft_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM88751 CREBBP c.4448T>G p.I1483S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3153135 EP300 c.3241C>T p.P1081S Substitution - Missense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM228110 KMT2C c.1042G>A p.D348N Substitution - Missense Pancreas COSM1009 SMARCB1 c.897G>A p.S299S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM422775 PBRM1 c.1727G>C p.R576P Substitution - Missense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3758097 HDAC4 c.1566G>A p.P522P Substitution - coding silent Stomach COSM5643554 NCOA1 c.164G>A p.S55N Substitution - Missense Oesophagus COSM1342127 ZMYM4 c.1282delA p.K430fs*6 Deletion - Frameshift Large_intestine COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM1287362 PRDM1 c.904T>C p.S302P Substitution - Missense Autonomic_ganglia COSM4541694 DPF1 c.223G>C p.A75P Substitution - Missense Skin COSM5568493 DAXX c.1550C>A p.S517Y Substitution - Missense Prostate COSM753794 SMARCA2 c.2301G>A p.M767I Substitution - Missense Lung COSM252857 TAF1 c.2560C>T p.R854C Substitution - Missense Ovary COSM5710466 KMT2C c.1139G>C p.R380P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4389056 CHD6 c.4105G>A p.E1369K Substitution - Missense Pancreas COSM4823939 JARID2 c.1402G>A p.E468K Substitution - Missense Cervix COSM4501900 BRD3 c.5C>T p.S2F Substitution - Missense Skin COSM1685362 SETBP1 c.1910C>G p.P637R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87007 DNMT3A c.2711C>T p.P904L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1214645 MBD5 c.337C>A p.H113N Substitution - Missense Large_intestine COSM447891 GABRG1 c.935C>G p.T312S Substitution - Missense Breast COSM230532 RUVBL1 c.1361A>T p.Y454F Substitution - Missense Skin COSM4420106 SETD5_ENST00000402198 c.3082A>G p.R1028G Substitution - Missense Prostate COSM4878684 EYA2 c.166C>T p.R56C Substitution - Missense Prostate COSM3411825 KMT2C c.7099A>G p.T2367A Substitution - Missense Central_nervous_system COSM1420488 MECOM c.753delT p.F251fs*21 Deletion - Frameshift Stomach COSM4942829 KAT6B c.5665A>G p.M1889V Substitution - Missense Liver COSM4590631 GLYR1 c.1377C>G p.H459Q Substitution - Missense Upper_aerodigestive_tract COSM1169584 PBRM1 c.4352_4352delG p.G1451fs*38 Deletion - Frameshift Kidney COSM4002800 ATXN7 c.1982C>T p.S661L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1610975 BAHCC1 c.5908G>C p.A1970P Substitution - Missense Liver COSM3521638 PHF23 c.160G>T p.E54* Substitution - Nonsense Skin COSM4799788 NCOA6 c.2931A>G p.P977P Substitution - coding silent Liver COSM1239416 MBD4 c.326A>G p.Y109C Substitution - Missense Oesophagus COSM41731 TET2 c.4_4delG p.E2fs*13 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5360226 ERCC6 c.1188T>C p.S396S Substitution - coding silent Large_intestine COSM53053 TET2 c.? p.F797fs*18 Frameshift Haematopoietic_and_lymphoid_tissue COSM4411453 BAP1 c.1557delC p.S520fs*51 Deletion - Frameshift Kidney COSM1671449 ING2 c.457C>A p.R153S Substitution - Missense Large_intestine COSM4471340 ATXN7 c.1712C>T p.S571L Substitution - Missense Skin COSM2246048 ARID4A c.2209C>T p.P737S Substitution - Missense Skin COSM703040 CREBBP c.7152C>A p.H2384Q Substitution - Missense Lung COSM1079909 TDRD6 c.4329C>T p.S1443S Substitution - coding silent Endometrium COSM23045 MEN1 c.8_42>GGCCT p.L3_R14>RP Complex - deletion inframe Parathyroid COSM22651 MEN1 c.824+1G>A p.? Unknown Parathyroid COSM41213 TET2 c.1864C>T p.Q622* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85911 IKZF1 c.161-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52980 EZH2 c.2069G>A p.R690H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49154 EZH2 c.2068C>T p.R690C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM78937 EP300 c.3934C>T p.R1312* Substitution - Nonsense Ovary COSM88755 CREBBP c.223C>T p.R75* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM126100 SETBP1 c.1429T>A p.S477T Substitution - Missense Upper_aerodigestive_tract COSM122020 TDG c.387C>A p.T129T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM144227 ATRX c.6406G>A p.D2136N Substitution - Missense Endometrium COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Upper_aerodigestive_tract COSM159235 ASXL1 c.3187C>T p.Q1063* Substitution - Nonsense Breast COSM166411 CREBBP c.3836+1G>A p.? Unknown Liver COSM211693 TET2 c.2800G>T p.G934* Substitution - Nonsense Upper_aerodigestive_tract COSM218550 AP001011.3_ENST00000320876 c.4366A>G p.K1456E Substitution - Missense Pancreas COSM219514 KDM3B c.3340G>A p.A1114T Substitution - Missense Breast COSM220685 KMT2D c.7249C>T p.R2417* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM227058 KIAA1045 c.364G>T p.E122* Substitution - Nonsense Skin COSM257902 RNF17 c.1216G>T p.E406* Substitution - Nonsense Large_intestine COSM258157 TDRD6 c.1102C>T p.R368* Substitution - Nonsense Endometrium COSM293686 SP140_ENST00000392045 c.2008delA p.K672fs*4 Deletion - Frameshift Stomach COSM314703 RBBP5 c.682A>T p.R228* Substitution - Nonsense Soft_tissue COSM315856 TDRD3 c.1713G>A p.K571K Substitution - coding silent Lung COSM378889 VPS72 c.847C>G p.P283A Substitution - Missense Lung COSM371241 SFMBT2 c.423G>T p.L141F Substitution - Missense Lung COSM431533 BAZ2A_ENST00000379441 c.3017delA p.K1006fs*11 Deletion - Frameshift Breast COSM464484 ZMYM1 c.1484T>A p.F495Y Substitution - Missense Kidney COSM975880 NCOR1 c.2797C>T p.R933* Substitution - Nonsense Large_intestine COSM675747 ASH1L c.2299C>T p.P767S Substitution - Missense Lung COSM1027505 EYA2 c.883G>A p.G295R Substitution - Missense Skin COSM716469 MBD5 c.3463G>T p.D1155Y Substitution - Missense Lung COSM720788 NCOA1 c.3392G>C p.R1131T Substitution - Missense Lung COSM913234 BRDT c.1295C>T p.A432V Substitution - Missense Endometrium COSM907710 ARID1A c.3399C>A p.P1133P Substitution - coding silent Endometrium COSM930382 DPF2 c.466C>T p.R156W Substitution - Missense Endometrium COSM930493 KAT5 c.629G>A p.R210H Substitution - Missense Cervix COSM904642 LBR c.1174G>A p.G392R Substitution - Missense Large_intestine COSM947877 SETDB2 c.1634T>C p.V545A Substitution - Missense Endometrium COSM990748 SMARCA4 c.2682G>A p.T894T Substitution - coding silent Endometrium COSM1075254 JARID2 c.2768T>C p.F923S Substitution - Missense Endometrium COSM1124906 TAF1 c.3592C>T p.R1198W Substitution - Missense Endometrium COSM1114793 SMARCA1 c.1497_1500delAGAA p.K499fs*12 Deletion - Frameshift Endometrium COSM1087049 EZH2 c.1060C>T p.R354C Substitution - Missense Endometrium COSM1180829 CREBBP c.3250delA p.I1084fs*15 Deletion - Frameshift Large_intestine COSM1179848 KDM6A c.3111G>A p.Q1037Q Substitution - coding silent Soft_tissue COSM1603740 KAT6B c.2264T>G p.L755R Substitution - Missense Liver COSM1331579 TAF1L c.1254C>T p.D418D Substitution - coding silent Lung COSM1385205 SMARCD2 c.1126_1128delGAG p.E376delE Deletion - In frame Large_intestine COSM1449850 HDAC9 c.3138T>C p.D1046D Substitution - coding silent Large_intestine COSM1363776 CHD4 c.417G>T p.E139D Substitution - Missense Soft_tissue COSM1351626 KMT2A c.4594C>T p.R1532C Substitution - Missense Large_intestine COSM1487604 BAG6 c.1454A>G p.Q485R Substitution - Missense Breast COSM1620724 PRDM1 c.784G>A p.V262I Substitution - Missense Liver COSM1582243 ZMYM4 c.3769C>T p.Q1257* Substitution - Nonsense Stomach COSM1702653 KAT6B c.670G>A p.E224K Substitution - Missense Skin COSM1716871 SETBP1 c.2606G>A p.S869N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1725132 RERE c.1864A>G p.N622D Substitution - Missense Liver COSM1755223 STK31 c.1708C>T p.L570L Substitution - coding silent Urinary_tract COSM1756081 EHMT1 c.1980C>T p.H660H Substitution - coding silent Urinary_tract COSM1735404 BAHCC1 c.2281T>C p.C761R Substitution - Missense Pancreas COSM2080338 ZMYM4 c.3187C>G p.L1063V Substitution - Missense Bone COSM2772258 TAF1L c.2013A>G p.Q671Q Substitution - coding silent Large_intestine COSM2834924 CHD9 c.6771G>A p.S2257S Substitution - coding silent Prostate COSM3113029 SRCAP c.8303G>A p.R2768Q Substitution - Missense Large_intestine COSM3296115 MBD5 c.882G>A p.R294R Substitution - coding silent Upper_aerodigestive_tract COSM3363433 SETD4 c.774G>A p.T258T Substitution - coding silent Kidney COSM3364327 BAZ2B c.1682G>A p.S561N Substitution - Missense Kidney COSM3358806 JMJD1C c.3752G>A p.S1251N Substitution - Missense Kidney COSM3383714 MEN1 c.851C>A p.A284E Substitution - Missense Pancreas COSM3488874 ZMYM1 c.2506C>T p.H836Y Substitution - Missense Skin COSM3427303 MECOM c.641G>T p.R214I Substitution - Missense Large_intestine COSM3632998 SND1 c.1857C>T p.S619S Substitution - coding silent Skin COSM3615228 PRDM9 c.2590G>A p.E864K Substitution - Missense Skin COSM3656842 TAF1L c.3614G>A p.R1205Q Substitution - Missense Skin COSM3666856 KMT2A c.7335T>A p.S2445S Substitution - coding silent Liver COSM3713024 KDM4B c.1717C>A p.P573T Substitution - Missense Upper_aerodigestive_tract COSM3733301 SMARCA4 c.2641G>A p.D881N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3735913 PRMT6 c.404C>T p.A135V Substitution - Missense Skin COSM3752792 TRIM66 c.1397A>G p.H466R Substitution - Missense Upper_aerodigestive_tract COSM3762397 TRIM24 c.2589A>G p.G863G Substitution - coding silent Soft_tissue COSM3796350 SMCHD1 c.2414T>C p.I805T Substitution - Missense Urinary_tract COSM3853976 NSD1 c.5854C>T p.R1952W Substitution - Missense Stomach COSM3940848 WHSC1 c.2305G>A p.A769T Substitution - Missense Oesophagus COSM3828216 C5orf35 c.372T>C p.V124V Substitution - coding silent Breast COSM3949303 CDYL c.1748G>T p.G583V Substitution - Missense Lung COSM4085885 BAZ2B c.3863G>A p.R1288H Substitution - Missense Stomach COSM4093271 DNMT3A c.191A>C p.D64A Substitution - Missense Stomach COSM4119787 ATXN7 c.454G>A p.D152N Substitution - Missense Stomach COSM4060695 CREBBP c.6253C>T p.Q2085* Substitution - Nonsense Stomach COSM4162006 KMT2C c.2645T>C p.I882T Substitution - Missense Thyroid COSM4382648 ZMYM4 c.835G>A p.A279T Substitution - Missense Large_intestine COSM4386116 KMT2C c.929G>T p.C310F Substitution - Missense Liver COSM4384072 NSD1 c.3097G>A p.A1033T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4385119 ASXL1 c.3005delC p.S1003fs*21 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4384868 CREBBP c.5234G>A p.W1745* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4390678 L3MBTL4 c.1233G>A p.L411L Substitution - coding silent Breast COSM4403871 TAF1L c.3128A>C p.E1043A Substitution - Missense Skin COSM4439735 KAT5 c.867A>G p.T289T Substitution - coding silent Oesophagus COSM4584665 BRPF1 c.2933A>G p.N978S Substitution - Missense Bone COSM4590278 KDM2A c.310A>G p.S104G Substitution - Missense Upper_aerodigestive_tract COSM4422796 ATRX c.5602G>C p.A1868P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4671292 CDYL c.720G>A p.P240P Substitution - coding silent Large_intestine COSM4732002 TAF3 c.2040T>A p.S680S Substitution - coding silent Skin COSM4668970 CAMKMT c.149delA p.K51fs*12 Deletion - Frameshift Large_intestine COSM4633387 MEN1 c.1283C>T p.P428L Substitution - Missense Large_intestine COSM4625774 DAXX c.886G>A p.A296T Substitution - Missense Large_intestine COSM4751084 CHD8 c.2082A>G p.I694M Substitution - Missense Stomach COSM4756301 SMARCD2 c.1406T>C p.V469A Substitution - Missense Stomach COSM4758448 KDM3A c.326T>C p.V109A Substitution - Missense Stomach COSM4891735 MTA2 c.1769C>G p.A590G Substitution - Missense Upper_aerodigestive_tract COSM4934070 SMARCA4 c.356-2A>T p.? Unknown Liver COSM4847355 ACTR6 c.3G>T p.M1I Substitution - Missense Cervix COSM4959260 HDAC6 c.2917G>A p.G973R Substitution - Missense Liver COSM4945517 HDAC2 c.1089A>G p.I363M Substitution - Missense Liver COSM4978064 EP300 c.4398G>C p.W1466C Substitution - Missense Oesophagus COSM5019722 KMT2C c.850-7C>T p.? Unknown Soft_tissue COSM5057486 C20orf20 c.589A>G p.S197G Substitution - Missense Stomach COSM5365841 NCOA3 c.2210T>G p.L737R Substitution - Missense Large_intestine COSM5413342 ARID1A c.4774C>T p.P1592S Substitution - Missense Skin COSM5494120 DIDO1 c.4394C>T p.A1465V Substitution - Missense Biliary_tract COSM5753887 KDM2B c.2913G>A p.L971L Substitution - coding silent Large_intestine COSM5770600 PRDM2 c.1696T>G p.L566V Substitution - Missense Breast COSM5722793 UHRF1 c.1536G>A p.Q512Q Substitution - coding silent Skin COSM5742013 DNMT3L c.245A>G p.D82G Substitution - Missense Small_intestine COSM5683259 GABRG1 c.480G>T p.W160C Substitution - Missense Soft_tissue COSM5564101 PHIP c.3212G>A p.R1071H Substitution - Missense Prostate COSM5786566 NSD1 c.634G>C p.D212H Substitution - Missense Breast COSM5925539 TRDMT1 c.1166T>A p.L389* Substitution - Nonsense Skin COSM5941289 KMT2C c.2291C>T p.S764F Substitution - Missense Thyroid COSM5903299 SMARCA1 c.823C>T p.R275C Substitution - Missense Skin COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM52954 DNMT3A c.? p.R882P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM86972 IKZF1 c.1-?_421+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43413 TET2 c.?_?ins? p.?fs Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41891 TET2 c.? p.R1261L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1709531 PRDM7 c.304A>T p.K102* Substitution - Nonsense Skin COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM3833575 TRRAP c.3096G>T p.K1032N Substitution - Missense Breast COSM4769273 PRDM10 c.2026C>A p.Q676K Substitution - Missense Biliary_tract COSM3663866 EYA1 c.1320G>A p.R440R Substitution - coding silent Liver COSM1083668 MLL5 c.674A>C p.D225A Substitution - Missense Endometrium COSM5933627 NCOR1 c.4246G>A p.G1416R Substitution - Missense Skin COSM2044782 PHC1 c.2185G>A p.V729M Substitution - Missense Central_nervous_system COSM1497024 WDR5 c.399T>G p.F133L Substitution - Missense Kidney COSM1635781 WHSC1L1 c.1594A>T p.K532* Substitution - Nonsense Liver COSM979422 KAT2A c.1148C>A p.P383H Substitution - Missense Endometrium COSM5012637 EP400 c.298A>T p.T100S Substitution - Missense Kidney COSM254812 KMT2A c.11348C>G p.S3783C Substitution - Missense Urinary_tract COSM96344 DNMT3A c.?_?del? p.W305fs*? Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1257783 KMT2D c.8449C>T p.R2817W Substitution - Missense Biliary_tract COSM1628460 EP400 c.1404G>A p.R468R Substitution - coding silent Liver COSM3874616 CDYL c.460G>A p.V154M Substitution - Missense Large_intestine COSM4963776 MEN1 c.1050-1G>A p.? Unknown Pancreas COSM3855011 NIPBL c.2158G>T p.G720W Substitution - Missense Stomach COSM4300099 L3MBTL2 c.700T>C p.S234P Substitution - Missense Upper_aerodigestive_tract COSM1416931 BRD1 c.2623C>T p.R875W Substitution - Missense Large_intestine COSM1681759 ADNP c.2456A>C p.K819T Substitution - Missense Ovary COSM4991526 EP300 c.1015C>T p.Q339* Substitution - Nonsense Skin COSM5608297 DOT1L c.2702C>T p.P901L Substitution - Missense Skin COSM1057 SMARCB1 c.1148delC p.P383fs*>3 Deletion - Frameshift Central_nervous_system COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM1035235 BRD1 c.2209C>T p.R737W Substitution - Missense Endometrium COSM5678866 BAHD1 c.1885C>T p.R629W Substitution - Missense Soft_tissue COSM2929521 TFPT c.362T>C p.M121T Substitution - Missense Large_intestine COSM1248470 CLOCK c.526G>C p.E176Q Substitution - Missense Oesophagus COSM1205874 EYA1 c.244T>G p.F82V Substitution - Missense Large_intestine COSM343593 TCF20 c.3578G>A p.R1193Q Substitution - Missense Lung COSM4545074 CBX8 c.36G>A p.A12A Substitution - coding silent Skin COSM4439734 KAT2B c.2331C>G p.L777L Substitution - coding silent Oesophagus COSM5797084 PRDM1 c.805C>G p.L269V Substitution - Missense Breast COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5949697 CHD1 c.3238-5T>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5808997 KAT2A c.1316A>G p.N439S Substitution - Missense Liver COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM4745683 PRDM2 c.3559G>C p.V1187L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1294869 PRDM2 c.904G>A p.E302K Substitution - Missense Urinary_tract COSM908355 PRDM16 c.1573C>T p.R525W Substitution - Missense Endometrium COSM5653227 KDM3A c.669C>T p.V223V Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM27978 SMARCB1 c.243_244ins? p.?fs Insertion - Frameshift Bone COSM5375277 KMT2D c.11118C>T p.G3706G Substitution - coding silent Skin COSM1329796 EHMT2 c.231G>T p.E77D Substitution - Missense Ovary COSM4412648 CREBBP c.1293C>T p.L431L Substitution - coding silent Oesophagus COSM3956641 TP53BP1 c.1180A>T p.T394S Substitution - Missense Lung COSM447459 PRMT10 c.2080C>T p.Q694* Substitution - Nonsense Breast COSM720782 NCOA1 c.4077C>G p.P1359P Substitution - coding silent Lung COSM1486739 NIPBL c.1309T>G p.L437V Substitution - Missense Breast COSM4952925 CREBBP c.1620G>T p.Q540H Substitution - Missense Liver COSM1630066 NCOR1 c.515C>T p.S172L Substitution - Missense Upper_aerodigestive_tract COSM3430899 PHIP c.3928C>T p.R1310C Substitution - Missense Large_intestine COSM5682746 HCFC2 c.351C>G p.P117P Substitution - coding silent Soft_tissue COSM5575863 KMT2C c.13602G>C p.Q4534H Substitution - Missense Stomach COSM1961383 LBR c.966G>A p.V322V Substitution - coding silent Large_intestine COSM4566484 RAI1 c.3920_3921GG>AA p.R1307Q Substitution - Missense Skin COSM1304887 UHRF1 c.1108G>C p.E370Q Substitution - Missense Urinary_tract COSM5375655 BAZ2A c.215delA p.N72fs*5 Deletion - Frameshift Skin COSM4069238 PHF23 c.130T>C p.Y44H Substitution - Missense Stomach COSM4130751 CBX2 c.334T>C p.S112P Substitution - Missense Thyroid COSM1586691 CHD4 c.2953T>C p.Y985H Substitution - Missense Endometrium COSM4064337 RAI1 c.1970C>T p.A657V Substitution - Missense Stomach COSM2053943 TDRD1 c.1349G>C p.S450T Substitution - Missense Large_intestine COSM5180751 HDAC2 c.230T>C p.L77P Substitution - Missense Large_intestine COSM4742887 ZMYM1 c.1458A>G p.K486K Substitution - coding silent Large_intestine COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1100764 CHD7 c.76G>T p.E26* Substitution - Nonsense Endometrium COSM4064369 RAI1 c.4631G>A p.R1544Q Substitution - Missense Stomach COSM2270431 RTF1 c.1735delA p.K580fs*>6 Deletion - Frameshift Large_intestine COSM1642928 ARID1B c.3169C>T p.R1057* Substitution - Nonsense Stomach COSM1167852 MGA c.6418_6419insA p.A2142fs*3 Insertion - Frameshift Skin COSM5357428 JARID2 c.465A>C p.E155D Substitution - Missense Large_intestine COSM745879 KMT2C c.7903C>T p.Q2635* Substitution - Nonsense Lung COSM269405 JARID2 c.2993A>G p.H998R Substitution - Missense Large_intestine COSM970038 SETD1A c.1056T>G p.S352S Substitution - coding silent Endometrium COSM4402245 KMT2D c.15392T>C p.L5131P Substitution - Missense Skin COSM5056166 DNMT1 c.2365G>A p.G789R Substitution - Missense Stomach COSM1480176 SIRT7 c.1076C>G p.S359W Substitution - Missense Breast COSM1314756 TAF1L c.1841C>T p.A614V Substitution - Missense Urinary_tract COSM211718 TET2 c.3743T>C p.L1248P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM894180 TRIM33 c.2399G>A p.G800D Substitution - Missense Endometrium COSM5601681 KDM5A c.2104C>T p.H702Y Substitution - Missense Skin COSM53149 TET2 c.? p.Y1631fs*28 Frameshift Haematopoietic_and_lymphoid_tissue COSM1240202 SIRT7 c.595G>A p.V199I Substitution - Missense Oesophagus COSM5549291 ZMYM5 c.770C>T p.A257V Substitution - Missense Prostate COSM1106548 BRD3 c.1117G>A p.A373T Substitution - Missense Endometrium COSM1130163 ZBTB4 c.1380A>C p.P460P Substitution - coding silent Prostate COSM3583864 SMYD1 c.600C>T p.N200N Substitution - coding silent Skin COSM4395687 SHPRH c.279C>T p.S93S Substitution - coding silent Skin COSM5612599 CHD8 c.4738C>T p.R1580W Substitution - Missense Adrenal_gland COSM3745193 PHF1 c.791T>C p.V264A Substitution - Missense Liver COSM1075250 JARID2 c.2262C>T p.F754F Substitution - coding silent Endometrium COSM252979 CLOCK c.368delT p.L123fs*1 Deletion - Frameshift Large_intestine COSM6006363 SMARCB1 c.463C>T p.R155C Substitution - Missense Skin COSM2061642 KDM4D c.895C>T p.R299* Substitution - Nonsense Urinary_tract COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4955859 TAF1L c.695C>A p.A232D Substitution - Missense Liver COSM1095763 ATAD2 c.1666C>T p.L556L Substitution - coding silent Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1266785 SRCAP c.4680G>A p.P1560P Substitution - coding silent Oesophagus COSM908608 ZMYM6 c.3373G>A p.E1125K Substitution - Missense Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4773570 ZMYM3 c.3411T>G p.Y1137* Substitution - Nonsense Stomach COSM3066679 SETMAR c.1325C>T p.T442M Substitution - Missense Skin COSM33731 IDH2 c.514A>G p.R172G Substitution - Missense Central_nervous_system COSM5569349 RAI1 c.5496C>T p.T1832T Substitution - coding silent Prostate COSM4392033 TDRKH c.1122G>A p.R374R Substitution - coding silent Prostate COSM5794015 KDM4D c.1025G>A p.R342Q Substitution - Missense Breast COSM3440606 KAT6B c.1529C>T p.S510F Substitution - Missense Skin COSM5717372 HDAC9 c.1899C>T p.G633G Substitution - coding silent Skin COSM207998 MECOM c.1839delA p.G614fs*30 Deletion - Frameshift Large_intestine COSM41293 IDH1 c.? p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1246897 ATAT1 c.135C>T p.T45T Substitution - coding silent Oesophagus COSM4797765 PRDM16 c.3477G>A p.E1159E Substitution - coding silent Liver COSM941746 BAZ2A c.3802C>A p.Q1268K Substitution - Missense Endometrium COSM24617 SMARCB1 c.1_628del628 p.? Unknown Soft_tissue COSM1248212 CHD4 c.5339A>C p.K1780T Substitution - Missense Stomach COSM5393777 TCF20 c.584C>T p.P195L Substitution - Missense Skin COSM3907630 KDM4C c.1224T>G p.D408E Substitution - Missense Stomach COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1169686 TET2 c.? p.Q810* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3495810 BAZ1A c.953A>G p.K318R Substitution - Missense Skin COSM3708676 PHF8 c.2445C>G p.I815M Substitution - Missense Liver COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM120176 TET2 c.3813C>G p.C1271W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5405113 BRPF3 c.1521G>A p.W507* Substitution - Nonsense Skin COSM246965 RBBP7 c.384T>C p.R128R Substitution - coding silent Prostate COSM1323227 BAHD1 c.2166delG p.A723fs*>58 Deletion - Frameshift Ovary COSM5962428 UHRF2 c.102G>T p.A34A Substitution - coding silent Breast COSM5980569 BAZ1A c.546_547insA p.D183fs*4 Insertion - Frameshift Upper_aerodigestive_tract COSM446636 DHX30 c.2086G>T p.E696* Substitution - Nonsense Breast COSM147497 KMT2D c.2015-8C>T p.? Unknown Soft_tissue COSM5946584 MYST3 c.1858C>T p.Q620* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5945716 ATRX c.? p.G1937E Substitution - Missense Central_nervous_system COSM394047 STK31 c.1163A>G p.K388R Substitution - Missense Lung COSM2687777 NIPBL c.1235G>A p.R412H Substitution - Missense Pancreas COSM1450085 STK31 c.2719C>T p.P907S Substitution - Missense Large_intestine COSM5746698 HDAC9 c.880A>G p.T294A Substitution - Missense Pancreas COSM709403 CXXC1 c.468G>C p.Q156H Substitution - Missense Skin COSM1181044 KMT2C c.13488delT p.F4496fs*21 Deletion - Frameshift Large_intestine COSM3980461 PHRF1 c.912C>T p.L304L Substitution - coding silent Ovary COSM5345762 EHMT1 c.2118C>T p.F706F Substitution - coding silent Large_intestine COSM1559266 TRIM33 c.1887C>A p.P629P Substitution - coding silent Central_nervous_system COSM3690708 SRCAP c.5018C>T p.P1673L Substitution - Missense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3962599 ATAD2B_ENST00000238789 c.1363G>A p.A455T Substitution - Missense Lung COSM4571472 MBD6 c.465T>C p.T155T Substitution - coding silent Skin COSM4929886 PRDM2 c.1516C>T p.H506Y Substitution - Missense Liver COSM3372891 KDM3A c.2239A>G p.I747V Substitution - Missense Thyroid COSM1562070 KMT2D c.1981C>T p.R661C Substitution - Missense Large_intestine COSM4603233 DIDO1 c.4878_4879insC p.A1627fs*53 Insertion - Frameshift Upper_aerodigestive_tract COSM166531 DNMT3A c.1429G>T p.E477* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4742163 ZBTB4 c.1119C>A p.T373T Substitution - coding silent Large_intestine COSM1427320 SMARCA5 c.1641A>C p.E547D Substitution - Missense Large_intestine COSM283388 NSD1 c.29G>T p.R10I Substitution - Missense Large_intestine COSM684718 JMJD1C c.689G>A p.R230Q Substitution - Missense Lung COSM5499572 BAP1 c.1604delA p.D535fs*36 Deletion - Frameshift Biliary_tract COSM3733336 KMT2C c.2263C>T p.Q755* Substitution - Nonsense Thyroid COSM1686531 STK31 c.2068-1G>A p.? Unknown Skin COSM1470900 NCOR1 c.3837G>T p.R1279S Substitution - Missense Prostate COSM1490469 SMARCA1 c.433C>T p.R145C Substitution - Missense Breast COSM107999 TIF1 c.2574G>A p.K858K Substitution - coding silent Skin COSM4949469 ARID2 c.3277C>T p.P1093S Substitution - Missense Liver COSM1088187 HDAC9 c.2213G>T p.G738V Substitution - Missense Endometrium COSM5347123 ARID1A c.5919G>A p.W1973* Substitution - Nonsense Endometrium COSM4383537 DNMT3A c.2258G>A p.W753* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1190310 DIDO1 c.1094G>T p.G365V Substitution - Missense Lung COSM248973 TP53BP1 c.4545T>G p.Y1515* Substitution - Nonsense Pancreas COSM1711827 SMARCA4 c.2351G>A p.G784E Substitution - Missense Skin COSM920705 TAF3 c.1777A>T p.K593* Substitution - Nonsense Endometrium COSM325824 KMT2D c.9496A>T p.K3166* Substitution - Nonsense Lung COSM1756894 ARID4A c.3212G>T p.G1071V Substitution - Missense Urinary_tract COSM88673 SMARCA4 c.3306C>G p.F1102L Substitution - Missense Breast COSM1265547 SHPRH c.1644_1664del21 p.E549_T555delEYLPSDT Deletion - In frame Oesophagus COSM1644987 SIRT6 c.80C>G p.P27R Substitution - Missense Salivary_gland COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1609412 CHD9 c.3693A>G p.R1231R Substitution - coding silent Liver COSM4926665 TDRD7 c.1653T>C p.F551F Substitution - coding silent Liver COSM294549 MBD1 c.685C>T p.R229W Substitution - Missense Stomach COSM4934562 SMCHD1 c.2348C>A p.P783H Substitution - Missense Liver COSM1609130 GTF3C1 c.1658T>G p.L553R Substitution - Missense Liver COSM239170 CBX4 c.634A>G p.K212E Substitution - Missense Prostate COSM5968376 PBRM1 c.2388G>T p.E796D Substitution - Missense Genital_tract COSM480138 SETD2 c.4862T>A p.L1621* Substitution - Nonsense Kidney COSM3499650 SETD3 c.969C>T p.I323I Substitution - coding silent Skin COSM240274 JARID2 c.491G>A p.R164Q Substitution - Missense Prostate COSM3923208 KMT2C c.2093C>T p.T698I Substitution - Missense Skin COSM452744 KMT2C c.432delC p.L145fs*1 Deletion - Frameshift Breast COSM3373813 NSD1 c.1538A>G p.K513R Substitution - Missense Thyroid COSM4436654 EYA1 c.1716G>T p.W572C Substitution - Missense Oesophagus COSM2042556 SUV420H1 c.490C>T p.R164W Substitution - Missense Adrenal_gland COSM357693 ARID1A c.5176G>T p.E1726* Substitution - Nonsense Lung COSM321080 JHDM1D c.1930C>A p.R644S Substitution - Missense Prostate COSM5893349 EHMT1 c.380G>A p.G127E Substitution - Missense Skin COSM594892 JARID2 c.1487G>A p.R496K Substitution - Missense Skin COSM5967781 SMARCD2 c.1349C>A p.A450E Substitution - Missense Upper_aerodigestive_tract COSM1117719 HCFC1 c.4396G>A p.G1466S Substitution - Missense Skin COSM4959175 JHDM1D c.2187C>T p.S729S Substitution - coding silent Liver COSM1462676 UHRF2 c.1697G>A p.R566H Substitution - Missense Large_intestine COSM1752461 HDAC4 c.390C>T p.H130H Substitution - coding silent Urinary_tract COSM4000327 CBX4 c.871T>C p.S291P Substitution - Missense Upper_aerodigestive_tract COSM1067072 PRDM9 c.836G>A p.R279Q Substitution - Missense Large_intestine COSM4513814 DOT1L c.951C>T p.I317I Substitution - coding silent Skin COSM4590050 PRDM10 c.1332A>C p.E444D Substitution - Missense Upper_aerodigestive_tract COSM5341674 DPF2 c.820G>A p.D274N Substitution - Missense Large_intestine COSM1215208 KMT2D c.445G>A p.V149I Substitution - Missense Large_intestine COSM5670971 KMT2A c.3220A>G p.R1074G Substitution - Missense Soft_tissue COSM4000327 CBX4 c.871T>C p.S291P Substitution - Missense Upper_aerodigestive_tract COSM392336 ASH1L c.8683_8684insA p.T2895fs*5 Insertion - Frameshift Large_intestine COSM3113510 SETD1A c.1511C>T p.S504F Substitution - Missense Skin COSM3690943 SETD1A c.3688C>T p.R1230W Substitution - Missense Large_intestine COSM4957381 BPTF c.643C>G p.R215G Substitution - Missense Liver COSM2949900 MINA c.550G>A p.E184K Substitution - Missense Upper_aerodigestive_tract COSM307763 TET2 c.? p.S794* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4488730 SETD5_ENST00000402198 c.3374C>T p.S1125F Substitution - Missense Skin COSM1074182 SHPRH c.4304C>A p.P1435H Substitution - Missense Endometrium COSM1202271 CREBBP c.2224C>T p.R742C Substitution - Missense Large_intestine COSM4146394 TRIM66 c.1417C>A p.P473T Substitution - Missense Thyroid COSM5995719 TET2 c.665A>T p.H222L Substitution - Missense Prostate COSM4041983 ARID2 c.716A>T p.D239V Substitution - Missense Stomach COSM3937656 BAHCC1 c.1670A>C p.Q557P Substitution - Missense Oesophagus COSM4717510 PRDM5 c.1034A>G p.K345R Substitution - Missense Large_intestine COSM1026846 CHD6 c.7340_7364del25 p.R2447fs*15 Deletion - Frameshift Endometrium COSM1720561 SRCAP c.6346C>T p.L2116F Substitution - Missense Skin COSM1399853 MBD5 c.3983C>A p.S1328Y Substitution - Missense Large_intestine COSM961978 TP53BP1 c.2149G>T p.E717* Substitution - Nonsense Endometrium COSM5506768 SMYD2 c.1227T>G p.I409M Substitution - Missense Biliary_tract COSM4431553 JMJD1C c.418G>C p.E140Q Substitution - Missense Oesophagus COSM675835 PYGO2 c.571G>T p.G191C Substitution - Missense Lung COSM1611512 CARM1 c.1327delA p.N443fs*27 Deletion - Frameshift Liver COSM1628716 SMARCC2 c.1089A>G p.T363T Substitution - coding silent Liver COSM757633 TAF1 c.4990G>T p.V1664L Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1979530 PRDM11 c.1202T>C p.V401A Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5924745 NCOA6 c.5171C>T p.P1724L Substitution - Missense Skin COSM483992 BRPF3 c.3535G>T p.V1179L Substitution - Missense Kidney COSM340486 SETBP1 c.2271T>A p.D757E Substitution - Missense Lung COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM110290 BAZ1B c.1084C>T p.P362S Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4171824 TDRD7 c.3203T>A p.V1068E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5063886 TAF1L c.2049delT p.F683fs*27 Deletion - Frameshift Stomach COSM5817862 CARM1 c.249A>T p.S83S Substitution - coding silent Liver COSM1212948 L3MBTL3 c.1987G>A p.V663I Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716790 TET2 c.1439_1439delC p.P480fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1675576 TDRD1 c.2258G>A p.C753Y Substitution - Missense Large_intestine COSM1483951 BRWD1 c.243C>T p.I81I Substitution - coding silent Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4601052 EZH1 c.1562A>G p.Y521C Substitution - Missense Upper_aerodigestive_tract COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3035786 SCML2 c.1385delT p.L462fs*1 Deletion - Frameshift Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4789297 SETDB2 c.548A>G p.H183R Substitution - Missense Liver COSM257480 KAT6B c.3760C>T p.R1254C Substitution - Missense Large_intestine COSM1159120 SETBP1 c.3973_3981delAGTTCTTAT p.S1325_Y1327delSSY Deletion - In frame Pancreas COSM4939508 PHIP c.2781G>C p.V927V Substitution - coding silent Liver COSM4650295 KDM2B c.1522C>T p.R508W Substitution - Missense Large_intestine COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM164706 SUZ12 c.2192C>G p.S731* Substitution - Nonsense Breast COSM5944921 DNMT3A c.2253C>A p.F751L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM166748 PRDM9 c.2295A>T p.R765S Substitution - Missense Upper_aerodigestive_tract COSM4522597 MBD3 c.116G>A p.S39N Substitution - Missense Skin COSM1017650 SP100 c.864C>A p.S288S Substitution - coding silent Endometrium COSM4603312 EP400 c.8184_8185insCAG p.Q2748_T2749insQ Insertion - In frame Upper_aerodigestive_tract COSM4516155 SHPRH c.1632_1633GG>TA p.K544_D545>NN Complex - compound substitution Skin COSM4828778 KMT2D c.14932C>T p.Q4978* Substitution - Nonsense Cervix COSM4168259 PHF6 c.261T>A p.C87* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5948939 PHIP c.600+3A>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM224913 LMNB1 c.726_727GG>AA p.L242>? Complex Skin COSM207151 ARID1B c.5804G>A p.R1935H Substitution - Missense Thyroid COSM133575 ASXL1 c.2254_2255GC>T p.A752fs*20 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM970036 SETD1A c.527G>A p.R176Q Substitution - Missense Large_intestine COSM3707701 ASXL1 c.1542T>C p.T514T Substitution - coding silent Liver COSM4691739 IDH1 c.538A>G p.M180V Substitution - Missense Large_intestine COSM314412 PRDM9 c.2114C>T p.S705L Substitution - Missense Lung COSM426151 ZMYM6 c.2932C>G p.L978V Substitution - Missense Breast COSM1054441 WHSC1 c.2749G>T p.E917* Substitution - Nonsense Endometrium COSM997 SMARCB1 c.1102C>T p.Q368* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43420 TET2 c.4546C>T p.R1516* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41875 IDH2 c.419G>T p.R140L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM81422 KMT2C c.12165C>T p.I4055I Substitution - coding silent Ovary COSM88736 CREBBP c.4022G>A p.R1341Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM95591 TET1 c.3927T>A p.C1309* Substitution - Nonsense Breast COSM110710 ASXL1 c.1924G>T p.G642* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM110789 TET2 c.4634_4635AG>C p.Q1545fs*26 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM87130 TET2 c.3781C>T p.R1261C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Central_nervous_system COSM166117 KMT2C c.11093_11094insATAC p.A3700fs*26 Insertion - Frameshift Breast COSM179064 CDYL c.1290C>T p.F430F Substitution - coding silent Large_intestine COSM211666 TET2 c.1960C>T p.Q654* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM249804 DNMT3A c.2151C>T p.N717N Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM230585 TDRD6 c.5597A>T p.K1866I Substitution - Missense Skin COSM245126 KAT2B c.1981G>A p.V661I Substitution - Missense Prostate COSM254816 KMT2C c.5287C>T p.Q1763* Substitution - Nonsense Urinary_tract COSM257811 PRMT10 c.2386G>T p.E796* Substitution - Nonsense Large_intestine COSM279000 ASH1L c.1777G>A p.E593K Substitution - Missense Endometrium COSM272998 NCOA7 c.2377C>G p.R793G Substitution - Missense Oesophagus COSM274174 BTAF1 c.23G>A p.R8H Substitution - Missense Large_intestine COSM301622 ACTB c.284G>A p.R95H Substitution - Missense Central_nervous_system COSM296495 LMNB2 c.1569_1570insC p.S524fs*23 Insertion - Frameshift Breast COSM309543 BRWD3 c.2194A>G p.R732G Substitution - Missense Soft_tissue COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Large_intestine COSM308451 PBRM1 c.1586_1587insT p.V530fs*3 Insertion - Frameshift Kidney COSM386781 RAI1 c.3965G>T p.R1322L Substitution - Missense Lung COSM389951 TAF1L c.3897C>T p.P1299P Substitution - coding silent Lung COSM419539 EP300 c.3284G>T p.S1095I Substitution - Missense Urinary_tract COSM422805 PBRM1 c.3110T>G p.V1037G Substitution - Missense Kidney COSM422811 PBRM1 c.3388G>T p.E1130* Substitution - Nonsense Kidney COSM428824 PRMT3 c.1537C>T p.R513C Substitution - Missense Breast COSM547513 ATF7IP c.2232G>T p.S744S Substitution - coding silent Prostate COSM488383 KDM6A c.2076G>A p.Q692Q Substitution - coding silent Kidney COSM483941 DAXX c.1353G>A p.E451E Substitution - coding silent Prostate COSM480290 BAP1 c.233A>G p.N78S Substitution - Missense Kidney COSM693294 PRMT8 c.448G>C p.E150Q Substitution - Missense Lung COSM677841 TDRD5 c.1604G>A p.R535K Substitution - Missense Lung COSM954448 CHD8 c.1952G>A p.R651Q Substitution - Missense Endometrium COSM941765 BAZ2A_ENST00000379441 c.2504T>C p.L835P Substitution - Missense Endometrium COSM1027528 ZMYND8 c.1532C>T p.P511L Substitution - Missense Endometrium COSM1018646 HDAC4 c.554C>T p.A185V Substitution - Missense Endometrium COSM920709 TAF3 c.2780G>A p.R927Q Substitution - Missense Endometrium COSM919471 JMJD1C c.4547G>T p.R1516I Substitution - Missense Endometrium COSM748337 TRRAP c.5830C>T p.H1944Y Substitution - Missense Lung COSM751063 CHD7 c.3261T>A p.I1087I Substitution - coding silent Lung COSM716471 MBD5 c.2903C>A p.S968* Substitution - Nonsense Lung COSM907726 ARID1A c.4336C>T p.R1446* Substitution - Nonsense Stomach COSM925908 PRMT3 c.1277C>T p.T426M Substitution - Missense Endometrium COSM958751 SMEK1 c.1190G>A p.R397Q Substitution - Missense Endometrium COSM935974 HNF1A c.862delG p.P291fs*51 Deletion - Frameshift Large_intestine COSM1066254 NSD1 c.3965G>A p.R1322Q Substitution - Missense Endometrium COSM1124881 TAF1 c.1988T>G p.F663C Substitution - Missense Endometrium COSM1125885 BRWD3 c.842G>T p.R281I Substitution - Missense Endometrium COSM1315834 ASXL1 c.1972G>T p.G658* Substitution - Nonsense Pancreas COSM1133047 ARID1A c.1753C>T p.Q585* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1082911 ACTL6B c.886G>A p.A296T Substitution - Missense Endometrium COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1239136 INOC1 c.4183C>T p.R1395* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1184887 BRD1 c.2405G>A p.R802Q Substitution - Missense Large_intestine COSM1226770 SMARCA5 c.2921G>A p.R974Q Substitution - Missense Large_intestine COSM1313190 ACTB c.472G>A p.G158R Substitution - Missense Urinary_tract COSM1331191 FMR1 c.1817G>A p.R606H Substitution - Missense Ovary COSM1411843 CHD6 c.2093T>G p.I698S Substitution - Missense Large_intestine COSM1429112 WHSC1 c.4021delC p.P1343fs*>23 Deletion - Frameshift Large_intestine COSM1449460 KMT2C c.2182G>T p.E728* Substitution - Nonsense Biliary_tract COSM1361696 ARID2 c.3201A>G p.K1067K Substitution - coding silent Large_intestine COSM1492758 HCFC2 c.1667-2A>T p.? Unknown Kidney COSM1638979 RSF1 c.1158delA p.K386fs*6 Deletion - Frameshift Large_intestine COSM1690772 SMYD1 c.1245G>A p.M415I Substitution - Missense Skin COSM1665027 WHSC1 c.997G>A p.A333T Substitution - Missense Kidney COSM1756911 CHD2 c.4459G>A p.D1487N Substitution - Missense Urinary_tract COSM1741911 ARID1A c.5884_5885insTA p.K1962fs*54 Insertion - Frameshift Urinary_tract COSM1751640 BRWD1 c.4362C>T p.I1454I Substitution - coding silent Urinary_tract COSM1734457 CHD6 c.4318G>C p.D1440H Substitution - Missense Pancreas COSM1969501 BTAF1 c.4223T>C p.V1408A Substitution - Missense Large_intestine COSM2023488 PWWP2B c.1276G>A p.D426N Substitution - Missense Salivary_gland COSM2145471 ERCC6 c.1671T>C p.R557R Substitution - coding silent Upper_aerodigestive_tract COSM2098397 CHD4 c.4107T>C p.A1369A Substitution - coding silent Upper_aerodigestive_tract COSM2098405 CHD4 c.4047C>A p.S1349S Substitution - coding silent Upper_aerodigestive_tract COSM2739019 NCOR1 c.2884C>T p.R962* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM2747733 DOT1L c.4339_4359del21 p.G1452_A1458delGGAASSA Deletion - In frame Upper_aerodigestive_tract COSM2931351 DIDO1 c.129G>A p.A43A Substitution - coding silent Breast COSM3151626 CBX6 c.561C>T p.G187G Substitution - coding silent Prostate COSM3341247 NSD1 c.7067C>T p.T2356M Substitution - Missense Oesophagus COSM3358160 BAZ1B c.572-5A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3396084 BAZ2A c.4686G>T p.Q1562H Substitution - Missense Prostate COSM3443993 KMT2A c.7674A>G p.P2558P Substitution - coding silent Skin COSM3423807 DIDO1 c.3914C>T p.S1305L Substitution - Missense Skin COSM3423807 DIDO1 c.3914C>T p.S1305L Substitution - Missense Large_intestine COSM3430296 ARID1B c.3948T>G p.S1316R Substitution - Missense Large_intestine COSM3426188 SP100 c.1046G>T p.R349I Substitution - Missense Large_intestine COSM3469423 TDRD3 c.1303T>C p.Y435H Substitution - Missense Skin COSM3450152 GLYATL1 c.830G>A p.R277Q Substitution - Missense Skin COSM3555551 BRD1 c.64G>T p.V22F Substitution - Missense Skin COSM3697499 L3MBTL3 c.2133C>T p.D711D Substitution - coding silent Large_intestine COSM3691390 RAI1 c.1500G>A p.P500P Substitution - coding silent Large_intestine COSM3677762 MTF2 c.1580T>C p.F527S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3670330 SETD2 c.349C>T p.R117* Substitution - Nonsense Skin COSM3711335 ZMYM6 c.3816G>A p.M1272I Substitution - Missense Upper_aerodigestive_tract COSM3767431 SETMAR c.1054C>T p.R352* Substitution - Nonsense Liver COSM3790332 BRDT c.532C>A p.P178T Substitution - Missense Urinary_tract COSM3937307 PHF12 c.2672G>C p.S891T Substitution - Missense Oesophagus COSM3906512 SMARCA2 c.744G>A p.T248T Substitution - coding silent Stomach COSM3879498 KMT2C c.14483G>A p.R4828H Substitution - Missense Stomach COSM3879571 KMT2C c.6515A>G p.D2172G Substitution - Missense Stomach COSM3975485 PRDM9 c.877T>A p.W293R Substitution - Missense Central_nervous_system COSM4034789 MTA2 c.1853A>G p.K618R Substitution - Missense Stomach COSM3991214 NCOA1 c.1108G>A p.G370R Substitution - Missense Kidney COSM3985755 KAT6B c.3050G>C p.C1017S Substitution - Missense Kidney COSM4111261 BRWD3 c.4928G>A p.S1643N Substitution - Missense Stomach COSM4147292 SMARCC2 c.3577A>C p.T1193P Substitution - Missense Prostate COSM4142794 ASH1L c.2592A>G p.E864E Substitution - coding silent Thyroid COSM4152329 KDM4C c.1485G>C p.E495D Substitution - Missense Ovary COSM4162018 KMT2C c.2315C>T p.S772L Substitution - Missense Thyroid COSM4384162 MLL5 c.5065C>T p.H1689Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4418379 ACTR5 c.816T>C p.N272N Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4593308 CREBBP c.6682C>G p.H2228D Substitution - Missense Upper_aerodigestive_tract COSM4593308 CREBBP c.6682C>G p.H2228D Substitution - Missense Upper_aerodigestive_tract COSM4572552 NCOA5 c.785T>C p.I262T Substitution - Missense Skin COSM4427093 BAZ2A c.2287C>G p.Q763E Substitution - Missense Oesophagus COSM4592612 KAT2A c.1561G>C p.V521L Substitution - Missense Upper_aerodigestive_tract COSM4460367 NCOA5 c.1162C>T p.R388C Substitution - Missense Skin COSM4451731 TAF1L c.1378A>G p.K460E Substitution - Missense Skin COSM4701406 MECP2 c.175G>A p.A59T Substitution - Missense Large_intestine COSM4689688 HDAC5 c.689G>C p.G230A Substitution - Missense Large_intestine COSM4643082 EHMT2 c.2588A>G p.Y863C Substitution - Missense Large_intestine COSM4625891 MLL5 c.3210C>T p.S1070S Substitution - coding silent Large_intestine COSM4654832 AIRE c.1171A>G p.T391A Substitution - Missense Large_intestine COSM4748330 PHRF1 c.1034A>G p.K345R Substitution - Missense Stomach COSM4777762 MBD4 c.929_930insA p.E314fs*13 Insertion - Frameshift Prostate COSM4789563 SMARCA2 c.3464A>T p.Q1155L Substitution - Missense Liver COSM4891624 KDM4B c.2046C>G p.P682P Substitution - coding silent Upper_aerodigestive_tract COSM4893248 SMARCC2 c.3505C>T p.Q1169* Substitution - Nonsense Skin COSM4937028 JHDM1D c.1140-1G>T p.? Unknown Liver COSM4905424 EYA1 c.1698G>A p.K566K Substitution - coding silent Skin COSM4935549 TDRD5 c.357G>A p.R119R Substitution - coding silent Liver COSM4849953 KMT2D c.5392C>T p.R1798W Substitution - Missense Cervix COSM4951240 AP001011.3_ENST00000320876 c.530A>T p.K177I Substitution - Missense Liver COSM5001990 ATRX c.5579A>G p.N1860S Substitution - Missense Pancreas COSM4988661 NCOA1 c.2983T>C p.Y995H Substitution - Missense Soft_tissue COSM4982804 PHF14 c.2480C>T p.T827M Substitution - Missense Oesophagus COSM5036155 CREBBP c.1703C>G p.S568C Substitution - Missense Oesophagus COSM5025146 KMT2C c.14048C>A p.A4683E Substitution - Missense Eye COSM5009670 TAF1L c.4209G>A p.T1403T Substitution - coding silent Large_intestine COSM5083879 MTF2 c.1215A>G p.P405P Substitution - coding silent Large_intestine COSM5381691 BRDT c.97C>T p.Q33* Substitution - Nonsense Skin COSM5493062 EP400 c.5749C>T p.R1917W Substitution - Missense Biliary_tract COSM5518201 LMNA c.1656C>T p.D552D Substitution - coding silent Biliary_tract COSM5654428 ATRX c.288A>G p.K96K Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5722579 RAI1 c.292C>T p.P98S Substitution - Missense Skin COSM5743877 BAHCC1 c.5810G>A p.R1937Q Substitution - Missense Small_intestine COSM5721211 EYA1 c.1678G>A p.E560K Substitution - Missense Skin COSM5580360 BRD4 c.300C>T p.I100I Substitution - coding silent Skin COSM5607841 ARID1A c.2682C>T p.T894T Substitution - coding silent Skin COSM5606649 MYST3 c.1689C>T p.F563F Substitution - coding silent Skin COSM5661443 EP400 c.3097delC p.P1033fs*65 Deletion - Frameshift Soft_tissue COSM5715252 CBX2 c.1522G>A p.V508I Substitution - Missense Liver COSM5553760 SFMBT2 c.2303A>G p.E768G Substitution - Missense Prostate COSM5551922 CHD6 c.756C>A p.D252E Substitution - Missense Prostate COSM5571854 PHF3 c.2295C>T p.V765V Substitution - coding silent Prostate COSM5777739 SCML2 c.162+10G>A p.? Unknown Breast COSM5792075 SMYD4 c.1074G>A p.V358V Substitution - coding silent Breast COSM5816053 PRDM5 c.618G>T p.K206N Substitution - Missense Liver COSM5950871 PRDM9 c.2547A>T p.R849S Substitution - Missense Prostate COSM5927258 SP100 c.1601-4G>A p.? Unknown Skin COSM5906241 TAF1 c.3715G>A p.E1239K Substitution - Missense Skin COSM5926566 PRDM13 c.313G>A p.E105K Substitution - Missense Skin COSM5936691 BRD1 c.2254C>T p.R752* Substitution - Nonsense Skin COSM5998616 EHMT1 c.1833A>G p.I611M Substitution - Missense Prostate COSM5985270 KMT2C c.6121G>A p.G2041R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6000242 KMT2D c.2542G>T p.D848Y Substitution - Missense Prostate COSM6011527 PRDM8 c.185C>G p.S62C Substitution - Missense Skin COSM6016100 JMJD5 c.1208G>A p.R403Q Substitution - Missense Skin COSM52959 DNMT3A c.? p.K841Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM132980 ASXL1 c.? p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1685350 EZH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM2270421 RTF1 c.1700G>A p.G567E Substitution - Missense Large_intestine COSM3484204 LBR c.1543C>T p.P515S Substitution - Missense Skin COSM724365 EYA2 c.509C>A p.P170H Substitution - Missense Lung COSM2027678 MTA1 c.1033G>A p.A345T Substitution - Missense Large_intestine COSM236128 IDH1 c.695A>C p.D232A Substitution - Missense Autonomic_ganglia COSM1936766 BAZ2A c.135T>C p.F45F Substitution - coding silent Large_intestine COSM21481 HNF1A c.872_873insC p.G292fs*25 Insertion - Frameshift Liver COSM1283676 BPTF c.394_396delGAG p.E138delE Deletion - In frame Bone COSM4516137 KDM2B c.525_526GG>AA p.G176S Substitution - Missense Skin COSM3937831 CARM1 c.568G>C p.D190H Substitution - Missense Oesophagus COSM3712821 BRD4 c.1400C>A p.A467D Substitution - Missense Upper_aerodigestive_tract COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM966692 CHD2 c.585G>A p.P195P Substitution - coding silent Large_intestine COSM3803164 RNF2 c.293G>T p.R98I Substitution - Missense Breast COSM5455223 ACTR8 c.670C>T p.L224L Substitution - coding silent Large_intestine COSM4626835 ASH1L c.7914C>T p.P2638P Substitution - coding silent Large_intestine COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Soft_tissue COSM146261 ASXL1 c.2058_2059delGT p.C687fs*30 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5604645 PWWP2B c.1460C>T p.T487I Substitution - Missense Skin COSM4497842 NCOR1 c.5021C>T p.P1674L Substitution - Missense Skin COSM4840120 HDAC5 c.284T>C p.F95S Substitution - Missense Cervix COSM1125521 ATRX c.82G>T p.E28* Substitution - Nonsense Endometrium COSM133585 ASXL1 c.1850T>C p.I617T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1671098 PRDM8 c.397G>T p.E133* Substitution - Nonsense Large_intestine COSM4919511 HCFC1 c.1308G>T p.T436T Substitution - coding silent Liver COSM87011 DNMT3A c.2141C>G p.S714C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1618224 TET2 c.3554A>C p.K1185T Substitution - Missense Liver COSM5554593 BAZ1A c.4080C>T p.G1360G Substitution - coding silent Prostate COSM52779 PBRM1 c.2335C>T p.Q779* Substitution - Nonsense Breast COSM1645999 SETDB1 c.3565G>C p.E1189Q Substitution - Missense Lung COSM4837157 ATRX c.1873G>C p.E625Q Substitution - Missense Cervix COSM3751642 PWWP2B c.292C>G p.R98G Substitution - Missense Thyroid COSM1627818 KMT2A c.7752A>G p.Q2584Q Substitution - coding silent Liver COSM4150274 MBD6 c.1818A>C p.P606P Substitution - coding silent Ovary COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM444464 BRWD1 c.5956G>C p.E1986Q Substitution - Missense Breast COSM1700240 EYA1 c.1408G>A p.E470K Substitution - Missense Skin COSM1220477 PHRF1 c.3862C>G p.P1288A Substitution - Missense Large_intestine COSM443048 SMEK2 c.1900G>A p.E634K Substitution - Missense Breast COSM1088652 STK31 c.2182C>T p.R728* Substitution - Nonsense Central_nervous_system COSM1057 SMARCB1 c.1148delC p.P383fs*>3 Deletion - Frameshift Central_nervous_system COSM3515526 PHF12 c.2923G>T p.D975Y Substitution - Missense Skin COSM3733523 NCOR1 c.14G>T p.G5V Substitution - Missense Thyroid COSM3789828 ARID1A c.4868C>T p.S1623L Substitution - Missense Urinary_tract COSM1236671 ARID1B c.4307C>T p.S1436L Substitution - Missense Autonomic_ganglia COSM5508470 BAHCC1 c.6405C>G p.R2135R Substitution - coding silent Biliary_tract COSM5358670 NCOA2 c.3608G>A p.R1203H Substitution - Missense Large_intestine COSM1411131 DNMT3B c.1846G>A p.V616M Substitution - Missense Large_intestine COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM236603 TTF2 c.1088C>T p.S363F Substitution - Missense Autonomic_ganglia COSM4580387 ASXL3 c.1127A>T p.D376V Substitution - Missense Bone COSM1299421 KMT2D c.14879G>T p.C4960F Substitution - Missense Urinary_tract COSM3828017 NIPBL c.6815C>T p.S2272L Substitution - Missense Breast COSM4092778 HDAC4 c.2571C>T p.V857V Substitution - coding silent Stomach COSM96362 BAP1 c.188C>G p.S63C Substitution - Missense Eye COSM211682 TET2 c.1506_1506delT p.E503fs*30 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5448173 ALKBH3 c.855C>A p.P285P Substitution - coding silent Large_intestine COSM1441820 ARID1B c.3655C>T p.H1219Y Substitution - Missense Large_intestine COSM488406 HDAC6 c.1529T>C p.I510T Substitution - Missense Kidney COSM975877 NCOR1 c.3686G>A p.R1229Q Substitution - Missense Endometrium COSM1051620 SMARCA5 c.2503G>T p.E835* Substitution - Nonsense Endometrium COSM30575 SMARCA4 c.3488T>C p.L1163P Substitution - Missense Large_intestine COSM728558 MBD4 c.1480G>A p.A494T Substitution - Missense Lung COSM4609463 UHRF2 c.1586C>A p.T529K Substitution - Missense Adrenal_gland COSM4972839 NCOR1 c.2419G>A p.E807K Substitution - Missense Oesophagus COSM3291667 CHD6 c.4871A>C p.Q1624P Substitution - Missense Large_intestine COSM4016203 TAF3 c.2761C>T p.H921Y Substitution - Missense Stomach COSM4387439 BAP1 c.1147C>T p.R383C Substitution - Missense Eye COSM4591233 NCOR1 c.534G>C p.K178N Substitution - Missense Upper_aerodigestive_tract COSM3388675 MBD3 c.336G>A p.V112V Substitution - coding silent Pancreas COSM1660735 BAZ2A c.1552T>G p.L518V Substitution - Missense Kidney COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Prostate COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM930381 DPF2 c.391C>T p.R131* Substitution - Nonsense Endometrium COSM30575 SMARCA4 c.3488T>C p.L1163P Substitution - Missense Large_intestine COSM4888243 SIRT5 c.856A>G p.R286G Substitution - Missense Upper_aerodigestive_tract COSM5450179 NCOA7 c.400A>G p.T134A Substitution - Missense Large_intestine COSM25824 MEN1 c.168_171delCAAC p.N57fs*61 Deletion - Frameshift Parathyroid COSM4068055 AKAP1 c.2532C>A p.A844A Substitution - coding silent Stomach COSM4013337 BMI1 c.773C>T p.A258V Substitution - Missense Stomach COSM437204 BPTF c.6000C>T p.G2000G Substitution - coding silent Lung COSM984412 ZBTB4 c.2135C>T p.A712V Substitution - Missense Endometrium COSM3523246 CHD3 c.291C>A p.T97T Substitution - coding silent Skin COSM1753989 BRD8 c.671C>T p.S224F Substitution - Missense Upper_aerodigestive_tract COSM1388493 ASXL3 c.54C>A p.F18L Substitution - Missense Large_intestine COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5008272 KMT2C c.8045C>A p.S2682Y Substitution - Missense Large_intestine COSM1315743 UTY c.124G>T p.E42* Substitution - Nonsense Urinary_tract COSM1328824 NIPBL c.3071delC p.S1024fs*1 Deletion - Frameshift Ovary COSM4922830 PHRF1 c.4442C>T p.P1481L Substitution - Missense Liver COSM961420 RTF1 c.1709G>T p.R570M Substitution - Missense Endometrium COSM1072936 NCOA7 c.1648A>G p.S550G Substitution - Missense Endometrium COSM187596 CHD6 c.1033G>A p.A345T Substitution - Missense Large_intestine COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5060044 TET2 c.931C>T p.L311L Substitution - coding silent Stomach COSM987394 SMCHD1 c.624G>T p.E208D Substitution - Missense Lung COSM3866239 BRDT c.94C>A p.L32I Substitution - Missense Skin COSM3526240 CXXC1 c.890G>A p.G297E Substitution - Missense Skin COSM216315 SCMH1 c.962G>A p.S321N Substitution - Missense Pancreas COSM1321526 TDRD1 c.2479C>T p.R827W Substitution - Missense Ovary COSM251292 ATF7IP c.255_256insA p.A86fs*13 Insertion - Frameshift Liver COSM3637554 STK31 c.2198C>T p.A733V Substitution - Missense Skin COSM82377 SMC1A c.1329C>G p.T443T Substitution - coding silent Ovary COSM5015103 KMT2D c.3500C>T p.S1167L Substitution - Missense Kidney COSM1677081 SMARCC2 c.356G>A p.R119H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3876906 MLL5 c.2482A>C p.N828H Substitution - Missense Stomach COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3712674 CXXC1 c.1145G>T p.R382L Substitution - Missense Upper_aerodigestive_tract COSM4663932 ATAD2B_ENST00000238789 c.2761C>T p.R921* Substitution - Nonsense Biliary_tract COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM320133 EP400 c.4591C>T p.Q1531* Substitution - Nonsense Lung COSM451600 CDYL c.686A>G p.D229G Substitution - Missense Breast COSM3697628 ARID1B c.195G>A p.Q65Q Substitution - coding silent Large_intestine COSM3668071 CBX4 c.1560C>A p.A520A Substitution - coding silent Liver COSM5656297 CREBBP c.3373_3374delTA p.Y1125fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3674006 BAP1 c.1257G>T p.K419N Substitution - Missense Prostate COSM4384257 EZH2 c.1978G>A p.G660R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3495802 BAZ1A c.4508C>T p.S1503L Substitution - Missense Skin COSM5961646 KDM6A c.3475A>G p.I1159V Substitution - Missense Adrenal_gland COSM3963987 PRDM15 c.1689G>C p.W563C Substitution - Missense Lung COSM131489 ARID2 c.2947C>T p.Q983* Substitution - Nonsense Biliary_tract COSM4170460 KMT2D c.857_858insG p.K287fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3650675 PRDM14 c.612C>T p.F204F Substitution - coding silent Skin COSM4828622 CHD4 c.2978A>C p.N993T Substitution - Missense Cervix COSM4807033 TDRD1 c.3241A>C p.N1081H Substitution - Missense Pancreas COSM1183835 ASXL1 c.904C>T p.R302C Substitution - Missense Large_intestine COSM146512 ORC1 c.1636G>C p.E546Q Substitution - Missense Stomach COSM5413034 TAF1 c.3381G>A p.K1127K Substitution - coding silent Skin COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM420623 WHSC1 c.3875C>T p.S1292L Substitution - Missense Urinary_tract COSM1184476 BAZ1B c.3713G>A p.R1238H Substitution - Missense Large_intestine COSM5019618 DAXX c.1137T>C p.Y379Y Substitution - coding silent Soft_tissue COSM4611662 PHF14 c.540delA p.K182fs*19 Deletion - Frameshift Large_intestine COSM1169216 IDH1 c.394_395CG>TC p.R132S Substitution - Missense Central_nervous_system COSM43432 TET2 c.1471_1471delC p.Q491fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3659720 PHF2 c.2399C>T p.S800F Substitution - Missense Skin COSM1665684 PBRM1 c.439delA p.T147fs*27 Deletion - Frameshift Kidney COSM186088 PCGF2 c.278G>A p.R93Q Substitution - Missense Pancreas COSM4790154 AICDA c.356G>A p.R119H Substitution - Missense Liver COSM5120255 ATRX c.5786+8G>A p.? Unknown Large_intestine COSM479747 ACTL6A c.446T>C p.F149S Substitution - Missense Kidney COSM1090 SMARCB1 c.1119-41G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1342382 MEAF6 c.332T>C p.I111T Substitution - Missense Large_intestine COSM4069635 ZBTB4 c.419T>C p.L140P Substitution - Missense Stomach COSM3649304 MYST3 c.1456C>T p.R486C Substitution - Missense Stomach COSM1106298 GTF3C4 c.2028C>T p.I676I Substitution - coding silent Endometrium COSM1295153 PYGO2 c.138G>T p.R46S Substitution - Missense Urinary_tract COSM3440092 SFMBT2 c.1845C>T p.I615I Substitution - coding silent Skin COSM1644335 ARID1A c.5541_5542insG p.D1850fs*4 Insertion - Frameshift Large_intestine COSM1670247 PHF7 c.979G>T p.E327* Substitution - Nonsense Large_intestine COSM1184489 BAZ2A c.5485C>T p.R1829W Substitution - Missense Large_intestine COSM4804090 EP300 c.1401C>G p.A467A Substitution - coding silent Liver COSM5770369 SIRT6 c.299A>G p.Q100R Substitution - Missense Breast COSM3444015 KMT2A c.11258C>T p.A3753V Substitution - Missense Skin COSM5478287 KDM5A c.337A>C p.K113Q Substitution - Missense Large_intestine COSM5148407 MTA1 c.1457G>A p.C486Y Substitution - Missense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM445043 EP300 c.6023C>T p.S2008F Substitution - Missense Breast COSM85844 MEN1 c.377_377delG p.W126fs*1 Deletion - Frameshift Pancreas COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM979607 EZH1 c.270G>A p.P90P Substitution - coding silent Endometrium COSM3413105 NCOA2 c.2620C>T p.R874* Substitution - Nonsense Central_nervous_system COSM211760 MEN1 c.397_398insT p.Y133fs*47 Insertion - Frameshift Parathyroid COSM3671146 MBD6 c.1717C>A p.P573T Substitution - Missense Prostate COSM5626358 TDRD3 c.254A>G p.E85G Substitution - Missense Oesophagus COSM913233 BRDT c.1108G>A p.E370K Substitution - Missense Skin COSM1605010 DPF2 c.904+3A>C p.? Unknown Liver COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4931855 BRWD3 c.1593A>G p.T531T Substitution - coding silent Liver COSM3784540 BRPF3 c.1866+10C>T p.? Unknown Pancreas COSM5380794 ZMYM4 c.2862T>C p.T954T Substitution - coding silent Skin COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5997230 TRRAP c.3610G>A p.A1204T Substitution - Missense Prostate COSM709535 SETBP1 c.253G>T p.G85C Substitution - Missense Lung COSM3428936 BRD8 c.3022G>A p.V1008I Substitution - Missense Large_intestine COSM999518 KDM4B c.392C>T p.P131L Substitution - Missense Endometrium COSM3760322 TET2 c.5284A>G p.I1762V Substitution - Missense Prostate COSM4163285 PHF19 c.407A>C p.D136A Substitution - Missense Thyroid COSM4391532 ASH1L c.8370C>G p.Y2790* Substitution - Nonsense Breast COSM4428533 CHD6 c.2020A>G p.I674V Substitution - Missense Oesophagus COSM5347219 ARID1A c.?_?del? p.R727fs*? Deletion - Frameshift Endometrium COSM5986517 KMT2D c.12760_12761insA p.R4254fs*51 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1192753 CBX5 c.317delA p.K106fs*31 Deletion - Frameshift Large_intestine COSM5018674 SMARCA4 c.4078_4080delGAG p.E1364delE Deletion - In frame Soft_tissue COSM1731292 SETD2 c.4001T>A p.L1334* Substitution - Nonsense Liver COSM3411149 TDRD6 c.2336C>G p.S779C Substitution - Missense Central_nervous_system COSM5428822 TP53BP1 c.2198T>C p.I733T Substitution - Missense Oesophagus COSM422772 PBRM1 c.1443+1G>T p.? Unknown Kidney COSM4038330 PRDM4 c.1730G>A p.S577N Substitution - Missense Stomach COSM703849 CTCF c.1689A>G p.T563T Substitution - coding silent Lung COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM1661122 CHD4 c.1448T>A p.I483N Substitution - Missense Kidney COSM1169514 KDM5C c.65C>T p.A22V Substitution - Missense Kidney COSM921717 HELLS c.1928G>A p.S643N Substitution - Missense Endometrium COSM1408705 SMEK2 c.2261C>T p.S754L Substitution - Missense Large_intestine COSM4496218 KDM6B c.4707C>T p.D1569D Substitution - coding silent Skin COSM4631688 PRMT2 c.995A>G p.K332R Substitution - Missense Large_intestine COSM4695009 KDM5C c.3934C>T p.R1312C Substitution - Missense Large_intestine COSM5961413 ZBTB38 c.112A>G p.I38V Substitution - Missense Adrenal_gland COSM5023896 EZH1 c.1_6delATGGAA p.M1_E2delME Deletion - In frame Bone COSM80159 MBTD1 c.1176A>G p.Q392Q Substitution - coding silent Ovary COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Upper_aerodigestive_tract COSM4639308 BTAF1 c.2128C>A p.L710M Substitution - Missense Large_intestine COSM4598309 RSF1 c.2837A>G p.K946R Substitution - Missense Upper_aerodigestive_tract COSM5707568 AIRE c.47C>T p.T16M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3964935 HCFC1 c.3837G>C p.L1279L Substitution - coding silent Lung COSM3919893 PRDM9 c.2303G>A p.R768K Substitution - Missense Skin COSM937187 EP400 c.7859C>T p.S2620L Substitution - Missense Prostate COSM3926687 TAF1L c.68C>T p.S23L Substitution - Missense Skin COSM3876368 ACTL6B c.392A>T p.E131V Substitution - Missense Stomach COSM4141845 CTCF c.629G>A p.S210N Substitution - Missense Ovary COSM1416616 TCF20 c.4737delA p.K1579fs*36 Deletion - Frameshift Large_intestine COSM221089 KMT2D c.8346_8347delTA p.T2783fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM159238 ATAD2B_ENST00000238789 c.2668G>T p.E890* Substitution - Nonsense Breast COSM457594 HDAC6 c.552C>A p.A184A Substitution - coding silent Breast COSM225885 KMT2C c.1139G>T p.R380L Substitution - Missense Soft_tissue COSM4664619 ATRX c.5888G>A p.R1963Q Substitution - Missense Large_intestine COSM3649293 MYST3 c.4482C>T p.V1494V Substitution - coding silent Skin COSM3992536 SMC1A c.3461T>A p.V1154D Substitution - Missense Kidney COSM5752596 NCOR1 c.1603G>T p.E535* Substitution - Nonsense Breast COSM3522211 ZBTB4 c.2453C>A p.A818D Substitution - Missense Skin COSM444478 BRWD1 c.3668C>G p.S1223C Substitution - Missense Breast COSM398810 BRPF1 c.2925A>C p.L975F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM42039 TET2 c.3866G>T p.C1289F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3723300 RAD54L c.814A>T p.I272F Substitution - Missense Upper_aerodigestive_tract COSM5958280 SP110 c.994G>C p.E332Q Substitution - Missense Thyroid COSM4681093 EP300 c.4382A>G p.K1461R Substitution - Missense Large_intestine COSM1669702 IDH1 c.290G>A p.G97D Substitution - Missense Large_intestine COSM4572562 CHD6 c.7880T>C p.F2627S Substitution - Missense Skin COSM1034519 EP300 c.1529-2A>G p.? Unknown Endometrium COSM3900875 CHD7 c.6108G>A p.P2036P Substitution - coding silent Stomach COSM1230637 TRRAP c.4339C>T p.R1447C Substitution - Missense Large_intestine COSM5716812 KMT2A c.16C>T p.R6W Substitution - Missense Skin COSM4150366 SETD5_ENST00000402198 c.524G>A p.S175N Substitution - Missense Ovary COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM939493 ARID2 c.371T>G p.I124S Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM4411165 BAP1 c.1411_1412insC p.G472fs*20 Insertion - Frameshift Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5024627 TDRD1 c.2303C>A p.P768H Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1000 SMARCB1 c.1022G>T p.R341L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3452410 SUV420H1 c.1561C>A p.P521T Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM703254 SRCAP c.6439C>A p.Q2147K Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM228110 KMT2C c.1042G>A p.D348N Substitution - Missense Large_intestine COSM5494693 CHD9 c.4838A>G p.D1613G Substitution - Missense Biliary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM76620 STK31 c.548C>G p.S183C Substitution - Missense Ovary COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4575455 KMT2D c.4362C>T p.P1454P Substitution - coding silent Bone COSM1297694 KMT2A c.4330G>C p.E1444Q Substitution - Missense Urinary_tract COSM3665399 SETDB1 c.3291_3291+1insT p.D1098fs*1 Unknown Liver COSM455268 PHF19 c.644G>C p.R215P Substitution - Missense Breast COSM5773841 GTF3C1 c.929T>A p.L310* Substitution - Nonsense Breast COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1479275 NCOR1 c.1573_1574insA p.T525fs*11 Insertion - Frameshift Breast COSM3505531 CHD2 c.1996G>A p.E666K Substitution - Missense Skin COSM4170451 KMT2D c.3310C>T p.Q1104* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1581659 SETD2 c.1147C>G p.L383V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716415 CTCF c.610delA p.T204fs*18 Deletion - Frameshift Endometrium COSM5584491 ARID2 c.3916C>T p.P1306S Substitution - Missense Skin COSM4463100 KMT2D c.11950C>T p.Q3984* Substitution - Nonsense Skin COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM980852 MYST2 c.1110C>A p.F370L Substitution - Missense Endometrium COSM4189106 TRIM33 c.2801T>C p.I934T Substitution - Missense Kidney COSM4849463 BRWD3 c.778C>G p.L260V Substitution - Missense Cervix COSM4942551 MTF2 c.5+1G>T p.? Unknown Liver COSM1581320 NIPBL c.185T>G p.V62G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1717483 TET2 c.5415C>T p.N1805N Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM269941 PRDM4 c.1307G>T p.R436L Substitution - Missense Large_intestine COSM144620 KMT2D c.9584_9585insG p.P3196fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM423086 PBRM1 c.2203_2212del10 p.A735fs*7 Deletion - Frameshift Kidney COSM5989826 TET2 c.5620G>C p.E1874Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4768617 KMT2C c.1038G>A p.V346V Substitution - coding silent Thyroid COSM917223 ZMYND11 c.152A>G p.E51G Substitution - Missense Endometrium COSM1190585 BRWD3 c.2869G>T p.V957F Substitution - Missense Lung COSM4835993 NCOA5 c.556G>A p.E186K Substitution - Missense Cervix COSM1083691 MLL5 c.4452G>A p.Q1484Q Substitution - coding silent Endometrium COSM1443397 EHMT2 c.1471C>A p.H491N Substitution - Missense Large_intestine COSM4018316 KMT2A c.5950G>A p.E1984K Substitution - Missense Stomach COSM4853536 ZBTB38 c.1071C>G p.L357L Substitution - coding silent Cervix COSM2813388 CARM1 c.1813C>T p.H605Y Substitution - Missense Prostate COSM5581273 GTF3C1 c.4488C>T p.F1496F Substitution - coding silent Skin COSM3879551 KMT2C c.8930C>A p.S2977Y Substitution - Missense Stomach COSM3550705 BRWD1 c.4490C>T p.S1497F Substitution - Missense Skin COSM1241437 KMT2C c.11570C>T p.T3857M Substitution - Missense Large_intestine COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM30422 KMT2D c.11324A>G p.Q3775R Substitution - Missense Lung COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51447 ARID1A c.1366C>T p.Q456* Substitution - Nonsense Ovary COSM107494 TRRAP c.2165C>T p.S722F Substitution - Missense Skin COSM87112 TET2 c.2896C>T p.Q966* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM121913 SMYD1 c.513G>A p.S171S Substitution - coding silent Endometrium COSM221120 KMT2D c.14465G>A p.C4822Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM139533 INTS12 c.1244G>A p.S415N Substitution - Missense Skin COSM178680 PRDM16 c.675C>T p.D225D Substitution - coding silent Cervix COSM232843 MYST3 c.814G>A p.G272S Substitution - Missense Skin COSM255053 EP300 c.4377_4388del12 p.P1460_L1463delPKRL Deletion - In frame Urinary_tract COSM287292 GLYR1 c.1140_1141insG p.R381fs*15 Insertion - Frameshift Breast COSM274574 CLOCK c.618G>A p.E206E Substitution - coding silent Large_intestine COSM276726 PHF17 c.2457G>T p.K819N Substitution - Missense Large_intestine COSM306817 BPTF c.2034_2041ATTATTTA>12 p.K678fs Complex Central_nervous_system COSM317302 EYA4 c.49A>T p.T17S Substitution - Missense Lung COSM352698 SETBP1 c.2417C>T p.P806L Substitution - Missense Lung COSM388531 TDRD6 c.940G>T p.G314C Substitution - Missense Lung COSM427940 KAT6B c.2623G>A p.D875N Substitution - Missense Breast COSM431205 KMT2D c.9950A>T p.E3317V Substitution - Missense Breast COSM460183 CHD3 c.3004C>T p.R1002* Substitution - Nonsense Prostate COSM460184 CBX4 c.1456G>A p.E486K Substitution - Missense Cervix COSM470340 SMEK1 c.1204C>G p.Q402E Substitution - Missense Kidney COSM985506 CHD3 c.4073-1G>T p.? Unknown Endometrium COSM966690 CHD2 c.110C>T p.S37L Substitution - Missense Endometrium COSM688115 PRDM11 c.148G>C p.V50L Substitution - Missense Lung COSM693706 KMT2D c.12005G>A p.G4002D Substitution - Missense Lung COSM685412 SFMBT2 c.333C>T p.Y111Y Substitution - coding silent Lung COSM680168 ARID1A c.6210G>T p.Q2070H Substitution - Missense Lung COSM954452 CHD8 c.1558A>G p.K520E Substitution - Missense Endometrium COSM911671 PHF13 c.144A>T p.E48D Substitution - Missense Endometrium COSM907731 ARID1A c.4880_4893delCTGCCCCTGTGCAG p.A1628fs*15 Deletion - Frameshift Endometrium COSM1041410 TBL1XR1 c.1462G>A p.E488K Substitution - Missense Endometrium COSM1263750 RAG2 c.231T>C p.T77T Substitution - coding silent Oesophagus COSM1693760 MECOM c.2957C>T p.S986F Substitution - Missense Skin COSM1187376 TRRAP c.10453C>G p.R3485G Substitution - Missense Lung COSM1158712 ATRX c.2763C>T p.V921V Substitution - coding silent Pancreas COSM1315522 KDM6A c.4074C>A p.C1358* Substitution - Nonsense Urinary_tract COSM1304295 DOT1L c.1002C>T p.L334L Substitution - coding silent Urinary_tract COSM1302830 KAT2A c.2353C>T p.R785C Substitution - Missense Urinary_tract COSM1289714 EP400 c.8181_8182insCAG p.Q2748_T2749insQ Insertion - In frame Large_intestine COSM1289805 BAZ2A c.2206+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1304889 UHRF1 c.1217C>G p.S406* Substitution - Nonsense Urinary_tract COSM1316460 BPTF c.7800G>C p.E2600D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1330935 CHD7 c.4393C>T p.R1465* Substitution - Nonsense Ovary COSM1322764 MTA1 c.1069C>G p.P357A Substitution - Missense Ovary COSM1411071 ASXL1 c.1609G>A p.E537K Substitution - Missense Large_intestine COSM1411845 CHD6 c.1442delA p.N481fs*10 Deletion - Frameshift Large_intestine COSM1424467 BAP1 c.558G>A p.L186L Substitution - coding silent Large_intestine COSM1437262 NIPBL c.1801delA p.K603fs*11 Deletion - Frameshift Large_intestine COSM1355794 MEN1 c.1546delC p.R516fs*43 Deletion - Frameshift Large_intestine COSM1360174 EP400 c.3964C>A p.L1322M Substitution - Missense Large_intestine COSM1490507 PHF6 c.421G>A p.D141N Substitution - Missense Breast COSM1490575 FMR1 c.1690C>G p.R564G Substitution - Missense Breast COSM1609458 SETD6 c.895T>G p.L299V Substitution - Missense Liver COSM1610707 PHF23 c.160-6T>A p.? Unknown Liver COSM1582219 TDRD5 c.640+4C>T p.? Unknown Stomach COSM1625697 HCFC1 c.652A>G p.N218D Substitution - Missense Liver COSM1633724 CLOCK c.1833G>A p.M611I Substitution - Missense Liver COSM1676745 ATF7IP c.1660C>T p.R554* Substitution - Nonsense Large_intestine COSM1642317 SFMBT1 c.1361G>A p.R454H Substitution - Missense Stomach COSM1716884 TET2 c.1945C>T p.Q649* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1665597 KMT2C c.9525delA p.Q3176fs*73 Deletion - Frameshift Kidney COSM1729930 BAZ2B c.1094A>T p.E365V Substitution - Missense Liver COSM1746937 PRMT8 c.558G>T p.W186C Substitution - Missense Urinary_tract COSM2151720 SMYD3 c.699A>C p.K233N Substitution - Missense Central_nervous_system COSM2149199 BAHD1 c.953T>C p.M318T Substitution - Missense Central_nervous_system COSM2149248 EYA3 c.342G>A p.T114T Substitution - coding silent Central_nervous_system COSM2802564 KDM6B c.791_792insACCACC p.P264_L265insPP Insertion - In frame Thyroid COSM2859906 TRIM24 c.2252delA p.N752fs*14 Deletion - Frameshift Large_intestine COSM2960114 ASH2L c.1841T>C p.V614A Substitution - Missense Large_intestine COSM3061771 TCF20 c.3306C>T p.S1102S Substitution - coding silent Large_intestine COSM3108932 GTF3C1 c.1395G>A p.S465S Substitution - coding silent Liver COSM3092184 SMARCA2 c.4027C>A p.L1343I Substitution - Missense Large_intestine COSM3341243 NSD1 c.6924C>T p.S2308S Substitution - coding silent Skin COSM3402318 CREBBP c.4039C>T p.R1347W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3406472 SMC1A c.914C>A p.T305N Substitution - Missense Central_nervous_system COSM3443947 KMT2A c.2233C>T p.R745* Substitution - Nonsense Large_intestine COSM3460975 ARID2 c.3536A>T p.N1179I Substitution - Missense Skin COSM3457108 HNF1A c.1039C>T p.P347S Substitution - Missense Skin COSM3472815 PRDM2 c.47C>T p.A16V Substitution - Missense Stomach COSM3642830 TRRAP c.9497C>T p.S3166L Substitution - Missense Skin COSM3618956 CHD1 c.3348G>A p.R1116R Substitution - coding silent Skin COSM3665404 ARID2 c.4398_4416del19 p.V1467fs*12 Deletion - Frameshift Liver COSM3668126 ASXL3 c.1461C>T p.S487S Substitution - coding silent Liver COSM3731724 ZBTB38 c.1335A>G p.P445P Substitution - coding silent Stomach COSM3725069 ZMYM2 c.2044G>A p.E682K Substitution - Missense Large_intestine COSM3725069 ZMYM2 c.2044G>A p.E682K Substitution - Missense Stomach COSM3764522 RTF1 c.999+5G>A p.? Unknown Central_nervous_system COSM3766010 SMYD4 c.2180A>G p.Y727C Substitution - Missense Liver COSM3928928 KMT2C c.14141A>C p.K4714T Substitution - Missense Central_nervous_system COSM3840991 ACTR5 c.1731C>T p.I577I Substitution - coding silent Breast COSM3911101 DNMT3B c.2333C>T p.S778L Substitution - Missense Large_intestine COSM4032865 PRDM11 c.452T>C p.M151T Substitution - Missense Stomach COSM4043532 SMARCC2 c.1546G>C p.A516P Substitution - Missense Stomach COSM4047966 SETDB2 c.1023-1G>A p.? Unknown Stomach COSM4042411 KMT2D c.1749T>G p.P583P Substitution - coding silent Stomach COSM3989515 AP001011.3_ENST00000320876 c.1712A>C p.D571A Substitution - Missense Kidney COSM4085897 BAZ2B c.496G>A p.E166K Substitution - Missense Stomach COSM4162004 KMT2C c.2646C>A p.I882I Substitution - coding silent Thyroid COSM4156642 FMR1 c.357A>C p.K119N Substitution - Missense Thyroid COSM4170097 TET2 c.2551delC p.P851fs*22 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4385089 ASXL1 c.2153delG p.R718fs*7 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4599492 BPTF c.2692G>C p.E898Q Substitution - Missense Upper_aerodigestive_tract COSM4415236 DNMT1 c.931A>G p.I311V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4503035 KDM1A c.629C>T p.S210F Substitution - Missense Skin COSM4520963 HDAC2 c.1086G>A p.K362K Substitution - coding silent Skin COSM4591270 KMT2C c.2512G>A p.G838S Substitution - Missense Upper_aerodigestive_tract COSM4449547 SMARCA1 c.262-1G>A p.? Unknown Skin COSM4421380 ADNP c.2956G>C p.D986H Substitution - Missense Pleura COSM4449881 KMT2A c.3634+2T>G p.? Unknown Skin COSM4472721 PRDM4 c.1800C>T p.I600I Substitution - coding silent Skin COSM4479356 BAZ2A_ENST00000379441 c.2316C>T p.V772V Substitution - coding silent Skin COSM4411402 BRPF3 c.2653A>G p.K885E Substitution - Missense Kidney COSM4769553 CHD7 c.8150G>A p.R2717K Substitution - Missense Biliary_tract COSM4665060 BAHD1 c.295delC p.S101fs*107 Deletion - Frameshift Large_intestine COSM4663226 ARID1A c.4250delA p.A1418fs*63 Deletion - Frameshift Large_intestine COSM4656158 KMT2D c.5130G>A p.T1710T Substitution - coding silent Large_intestine COSM4623768 RERE c.2797A>G p.T933A Substitution - Missense Large_intestine COSM4775145 PHF6 c.340_341insA p.I115fs*23 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4754257 PHF21A c.464C>T p.T155I Substitution - Missense Stomach COSM4895281 AKAP1 c.266C>T p.P89L Substitution - Missense Skin COSM4917574 KDM6B c.574C>T p.R192W Substitution - Missense Liver COSM4932382 GTF3C1 c.2235A>G p.P745P Substitution - coding silent Liver COSM4940833 BAG6 c.1658C>T p.T553I Substitution - Missense Liver COSM4935148 SHPRH c.533A>T p.E178V Substitution - Missense Liver COSM4830186 SND1 c.112C>G p.Q38E Substitution - Missense Cervix COSM4809241 RAI1 c.1471G>A p.E491K Substitution - Missense Pancreas COSM4965338 KDM3B c.4507G>A p.E1503K Substitution - Missense Pancreas COSM4951388 PHF16 c.2068C>T p.Q690* Substitution - Nonsense Liver COSM4992839 TRIM24 c.2940T>C p.N980N Substitution - coding silent Skin COSM4992940 KMT2C c.5216C>T p.P1739L Substitution - Missense Skin COSM4987392 KDM6B c.2257A>G p.T753A Substitution - Missense Soft_tissue COSM5019785 NSD1 c.3705T>C p.N1235N Substitution - coding silent Soft_tissue COSM5048523 ATXN7 c.764C>T p.S255F Substitution - Missense Oesophagus COSM5044088 ORC1 c.2078G>A p.R693Q Substitution - Missense Liver COSM5521352 MLL5 c.5284C>T p.P1762S Substitution - Missense Biliary_tract COSM5643857 SMARCA2 c.40G>A p.G14R Substitution - Missense Oesophagus COSM5638738 MLL5 c.1506A>G p.K502K Substitution - coding silent Oesophagus COSM5757499 HCFC1 c.3845A>G p.D1282G Substitution - Missense Large_intestine COSM5719279 RAD54L c.160C>T p.P54S Substitution - Missense Skin COSM5736597 DHX30 c.279G>A p.W93* Substitution - Nonsense Small_intestine COSM5663399 SP140_ENST00000392045 c.1434T>C p.C478C Substitution - coding silent Soft_tissue COSM5762962 TET2 c.3380_3381insG p.Y1128fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5833238 RAI1 c.2832_2833delCT p.L946fs*7 Deletion - Frameshift Breast COSM5944510 TET2 c.3305_3306insAGG p.N1102>KG Complex - insertion inframe Haematopoietic_and_lymphoid_tissue COSM5929751 NCOR1 c.5728C>T p.P1910S Substitution - Missense Skin COSM5960234 CHD8 c.6450_6451insG p.A2151fs*3 Insertion - Frameshift Thyroid COSM5957508 KDM6B c.3153_3154ins18 p.P1058_S1059insPSAPAP Insertion - In frame Thyroid COSM5962230 MECP2 c.762G>T p.K254N Substitution - Missense Breast COSM5990776 PRDM10 c.383delG p.G128fs*87 Deletion - Frameshift Liver COSM6000209 ATF7IP c.642G>A p.P214P Substitution - coding silent Prostate COSM5995012 BRPF1 c.1672C>T p.R558C Substitution - Missense Prostate COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM219067 TET2 c.? p.G1256A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5967241 ASXL1 c.? p.L1170fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3356920 EZH1 c.10C>T p.P4S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1096253 PHF20L1 c.376C>T p.R126C Substitution - Missense Endometrium COSM4588679 EHMT1 c.276C>T p.N92N Substitution - coding silent Bone COSM5405696 PHF3 c.2328G>A p.K776K Substitution - coding silent Skin COSM4516037 GTF3C4 c.1530_1531CC>TT p.Q511* Substitution - Nonsense Skin COSM5633290 CHD8 c.2752T>C p.Y918H Substitution - Missense Oesophagus COSM461351 BRWD1 c.461G>C p.R154P Substitution - Missense Cervix COSM919493 JMJD1C c.2477A>T p.E826V Substitution - Missense Large_intestine COSM344979 LBR c.973C>G p.H325D Substitution - Missense Lung COSM5708963 TET2 c.3500G>T p.R1167M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2773707 KIAA1045 c.680G>A p.R227H Substitution - Missense Large_intestine COSM4022215 POGZ c.3274A>G p.T1092A Substitution - Missense Stomach COSM3663866 EYA1 c.1320G>A p.R440R Substitution - coding silent Liver COSM4420551 DOT1L c.3748G>A p.D1250N Substitution - Missense Central_nervous_system COSM5508406 ZMYM5 c.1117C>T p.H373Y Substitution - Missense Biliary_tract COSM6001100 CHD8 c.6742G>T p.E2248* Substitution - Nonsense Prostate COSM5547457 PHF19 c.870_879del10 p.N290fs*14 Deletion - Frameshift Prostate COSM4773619 BAZ2B c.2510G>A p.R837H Substitution - Missense Stomach COSM253080 PYGO1 c.50-3delT p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3548791 DIDO1 c.3791C>T p.P1264L Substitution - Missense Skin COSM724352 NCOA3 c.4140G>T p.Q1380H Substitution - Missense Lung COSM41644 TET2 c.1648C>T p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4778171 DAXX c.1492T>C p.S498P Substitution - Missense Prostate COSM2797827 BPTF c.6173G>A p.R2058H Substitution - Missense Stomach COSM4923645 CHD8 c.6106C>T p.P2036S Substitution - Missense Liver COSM1023496 KDM3A c.1438C>T p.R480* Substitution - Nonsense Endometrium COSM21712 CREBBP c.2809C>T p.P937S Substitution - Missense Skin COSM1341404 ARID1A c.2332G>A p.G778R Substitution - Missense Large_intestine COSM4092285 SP100 c.1208A>G p.D403G Substitution - Missense Stomach COSM6018507 PHF8 c.2997C>T p.P999P Substitution - coding silent Skin COSM253004 HCFC2 c.919delA p.N309fs*32 Deletion - Frameshift Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5712949 EYA2 c.1104T>A p.S368S Substitution - coding silent Central_nervous_system COSM4735434 TP53BP1 c.5774C>T p.S1925L Substitution - Missense Large_intestine COSM1686226 CHD2 c.4757C>T p.S1586F Substitution - Missense Skin COSM1659792 EPC1 c.509T>C p.L170P Substitution - Missense Kidney COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4767640 MSH6 c.1048G>T p.A350S Substitution - Missense Biliary_tract COSM4996816 KMT2C c.3956A>G p.D1319G Substitution - Missense Upper_aerodigestive_tract COSM1053620 ING2 c.325G>T p.E109* Substitution - Nonsense Endometrium COSM3720607 TET2 c.2715_2716insA p.M906fs*18 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM253004 HCFC2 c.919delA p.N309fs*32 Deletion - Frameshift Stomach COSM3509558 CREBBP c.2978C>A p.P993H Substitution - Missense Skin COSM4920003 TDRKH c.507A>G p.L169L Substitution - coding silent Liver COSM147495 KMT2D c.11700A>G p.P3900P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5941651 HDAC4 c.2248C>T p.P750S Substitution - Missense Skin COSM4956297 ZMYM1 c.1022C>T p.T341M Substitution - Missense Liver COSM4585109 CLOCK c.2157T>C p.A719A Substitution - coding silent Bone COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43417 TET2 c.2746C>T p.Q916* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4160047 BRD9 c.902T>C p.V301A Substitution - Missense Thyroid COSM3637091 HDAC9 c.3066C>T p.G1022G Substitution - coding silent Skin COSM3026293 STK31 c.1254C>A p.Y418* Substitution - Nonsense Pancreas COSM1707392 ARID4A c.3401C>T p.P1134L Substitution - Missense Skin COSM1019111 NCOA1 c.122A>C p.K41T Substitution - Missense Endometrium COSM1392037 DOT1L c.838A>C p.N280H Substitution - Missense Large_intestine COSM1324214 PRDM7 c.317C>T p.S106L Substitution - Missense Ovary COSM483296 HDAC2 c.231A>G p.L77L Substitution - coding silent Kidney COSM5743076 CHD1 c.418A>G p.K140E Substitution - Missense Small_intestine COSM325773 MBD4 c.976G>T p.E326* Substitution - Nonsense Lung COSM1039195 ZBTB38 c.751G>T p.E251* Substitution - Nonsense Endometrium COSM593673 PRDM1 c.779G>T p.R260L Substitution - Missense Oesophagus COSM5348130 DNMT3A c.314delG p.S105fs*57 Deletion - Frameshift Liver COSM4170058 TET2 c.2659G>T p.E887* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4997754 KMT2D c.1163delT p.L388fs*14 Deletion - Frameshift Pancreas COSM4397819 ASXL1 c.3218G>T p.R1073L Substitution - Missense Skin COSM4590719 KAT2A c.1583C>T p.S528F Substitution - Missense Upper_aerodigestive_tract COSM4549231 ING2 c.467G>C p.R156P Substitution - Missense Skin COSM3750192 PHF2 c.2964G>T p.P988P Substitution - coding silent Large_intestine COSM4717445 PRDM10 c.2229G>A p.S743S Substitution - coding silent Large_intestine COSM30355 KMT2D c.9798C>T p.R3266R Substitution - coding silent Kidney COSM3396185 BRDT c.1112C>T p.T371M Substitution - Missense Prostate COSM972490 CTCF c.1342C>T p.R448* Substitution - Nonsense Endometrium COSM697770 MTA1 c.36C>G p.V12V Substitution - coding silent Lung COSM2998196 SMYD5 c.905T>C p.V302A Substitution - Missense Large_intestine COSM4511619 EP400 c.874C>T p.L292L Substitution - coding silent Skin COSM5406145 MLL5 c.4400C>T p.P1467L Substitution - Missense Skin COSM969248 GTF3C1 c.4869C>T p.D1623D Substitution - coding silent Endometrium COSM4167281 TET2 c.? p.H1792fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM4434676 TET2 c.4993_4994insGACC p.D1665fs*6 Insertion - Frameshift Oesophagus COSM4085892 BAZ2B c.1082C>T p.S361F Substitution - Missense Stomach COSM4385516 PHF6 c.865A>G p.T289A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1413020 DIDO1 c.2507T>C p.M836T Substitution - Missense Large_intestine COSM4408067 PRDM9 c.14A>C p.K5T Substitution - Missense Oesophagus COSM1642353 MINA c.857T>C p.L286S Substitution - Missense Stomach COSM961199 BAHD1 c.126C>T p.P42P Substitution - coding silent Endometrium COSM4659114 ACTL6B c.961G>T p.G321C Substitution - Missense Large_intestine COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4603827 NSD1 c.6470delG p.E2158fs*136 Deletion - Frameshift Upper_aerodigestive_tract COSM5988029 BTAF1 c.1622_1624delTGT p.F542delF Deletion - In frame Salivary_gland COSM4646231 TAF1L c.2010A>C p.E670D Substitution - Missense Large_intestine COSM1406761 HDAC4 c.155G>A p.R52H Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5373088 MTA2 c.1750C>T p.R584C Substitution - Missense Soft_tissue COSM421604 SND1 c.566C>G p.S189* Substitution - Nonsense Urinary_tract COSM1707264 BAZ1A c.1768C>T p.R590C Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1209385 HDAC5 c.2935A>G p.T979A Substitution - Missense Large_intestine COSM1025805 DNMT3B c.1609C>T p.R537W Substitution - Missense Endometrium COSM4440708 TBL1XR1 c.458G>A p.G153E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3525440 ASXL3 c.1770A>C p.L590F Substitution - Missense Skin COSM4656598 ARID1B c.5884C>T p.L1962F Substitution - Missense Large_intestine COSM5622878 CHD6 c.2202C>T p.L734L Substitution - coding silent Oesophagus COSM4889973 SUV39H1 c.672C>G p.S224S Substitution - coding silent Upper_aerodigestive_tract COSM3512601 CDYL2 c.1466C>T p.S489F Substitution - Missense Skin COSM52968 DNMT3A c.1_2739 p.0 Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM2772206 TAF1L c.4093C>T p.P1365S Substitution - Missense Skin COSM1624853 SMARCA2 c.3485G>T p.R1162L Substitution - Missense Liver COSM4702478 KMT2C c.12570C>T p.S4190S Substitution - coding silent Large_intestine COSM4919177 MBD5 c.3624C>A p.N1208K Substitution - Missense Liver COSM1578346 ARID1A c.3989_3991delAGC p.Q1334delQ Deletion - In frame Lung COSM954447 CHD8 c.2004C>A p.F668L Substitution - Missense Endometrium COSM257719 PHF21A c.1560A>G p.K520K Substitution - coding silent Large_intestine COSM3710032 TTF2 c.2257G>C p.V753L Substitution - Missense Upper_aerodigestive_tract COSM5986193 SETD2 c.334C>A p.P112T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3206358 FXR1 c.1654A>C p.N552H Substitution - Missense Large_intestine COSM4525107 GABRG1 c.130G>A p.D44N Substitution - Missense Skin COSM34192 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM702817 GTF3C1 c.2710C>T p.L904F Substitution - Missense Lung COSM28815 KDM6A c.1_4206del4206 p.0? Whole gene deletion Breast COSM5447756 STK31 c.1243T>C p.W415R Substitution - Missense Large_intestine COSM5884401 PHF3 c.5258C>T p.P1753L Substitution - Missense Skin COSM445040 EP300 c.18G>A p.V6V Substitution - coding silent Breast COSM4694847 KDM1A c.1735_1737delGAT p.D581delD Deletion - In frame Large_intestine COSM4041774 KDM5A c.2564A>T p.E855V Substitution - Missense Stomach COSM4775684 CREBBP c.3833_3836+19del23 p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4924801 NCOA2 c.4287C>T p.P1429P Substitution - coding silent Liver COSM1720118 PRDM2 c.721A>G p.T241A Substitution - Missense Skin COSM1117767 HCFC1 c.681C>T p.C227C Substitution - coding silent Endometrium COSM4383786 TET2 c.1235delT p.P413fs*14 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4742123 ZBTB33 c.1520C>T p.T507I Substitution - Missense Large_intestine COSM3728000 CREBBP c.4263_4264insC p.P1424fs*13 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4489251 CHD4 c.3450C>T p.P1150P Substitution - coding silent Skin COSM3515528 PHF12 c.1877C>T p.P626L Substitution - Missense Skin COSM3608983 KDM3B c.3517C>T p.P1173S Substitution - Missense Skin COSM4747798 KMT2A c.2886_2889delAAAG p.K964fs*42 Deletion - Frameshift Stomach COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4789026 PRDM1 c.1928G>A p.R643H Substitution - Missense Liver COSM219104 ASXL1 c.2944_2944delA p.K982fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5343134 CXXC1 c.1793G>A p.R598H Substitution - Missense Large_intestine COSM1237085 MEN1 c.703G>A p.E235K Substitution - Missense Parathyroid COSM1230388 TRIM66 c.1484G>A p.S495N Substitution - Missense Large_intestine COSM77462 CHD6 c.7462C>T p.P2488S Substitution - Missense Ovary COSM12943 TRRAP c.8015C>T p.P2672L Substitution - Missense Lung COSM1026075 NCOA6 c.3811G>A p.D1271N Substitution - Missense Endometrium COSM3750651 TDRD5 c.1362C>T p.D454D Substitution - coding silent Thyroid COSM3664561 BRWD1 c.1434C>A p.P478P Substitution - coding silent Breast COSM680174 ARID1A c.3145C>G p.L1049V Substitution - Missense Lung COSM42016 TET2 c.4393C>T p.R1465* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4593173 CBX4 c.691A>C p.N231H Substitution - Missense Upper_aerodigestive_tract COSM3402492 CDYL2 c.449A>G p.K150R Substitution - Missense Central_nervous_system COSM328978 KMT2C c.8390delA p.K2797fs*26 Deletion - Frameshift Stomach COSM4313887 MSH6 c.4002-8A>T p.? Unknown Kidney COSM1639823 ARID1A c.6303delC p.S2104fs*31 Deletion - Frameshift Stomach COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4605488 ASH1L c.4942G>A p.E1648K Substitution - Missense Upper_aerodigestive_tract COSM937189 EP400 c.8232G>A p.Q2744Q Substitution - coding silent Thyroid COSM21486 HNF1A c.872delC p.P291fs*51 Deletion - Frameshift Large_intestine COSM4802448 IDH2 c.809T>C p.F270S Substitution - Missense Liver COSM5908934 PHF19 c.1130+3C>T p.? Unknown Skin COSM444025 ADNP c.2901C>T p.D967D Substitution - coding silent Stomach COSM4152515 PBRM1 c.190C>T p.Q64* Substitution - Nonsense Pancreas COSM1080952 PHF3 c.2183G>T p.G728V Substitution - Missense Biliary_tract COSM4613321 KDM5A c.4421delT p.L1474fs*26 Deletion - Frameshift Large_intestine COSM4954911 PRDM8 c.827G>T p.S276I Substitution - Missense Liver COSM371330 CHD3 c.700A>C p.I234L Substitution - Missense Central_nervous_system COSM5350309 CHD2 c.4693-1G>A p.? Unknown Lung COSM5181175 PYGO2 c.780delG p.K261fs*3 Deletion - Frameshift Large_intestine COSM1041039 PHC3 c.1731G>A p.M577I Substitution - Missense Endometrium COSM5882693 GTF3C1 c.1387G>A p.E463K Substitution - Missense Upper_aerodigestive_tract COSM1644701 KDM6B c.1417T>C p.C473R Substitution - Missense Salivary_gland COSM3349900 PHF1 c.820G>A p.D274N Substitution - Missense Upper_aerodigestive_tract COSM5975594 NIPBL c.1979A>G p.E660G Substitution - Missense Upper_aerodigestive_tract COSM4599038 ZGPAT c.699G>T p.W233C Substitution - Missense Upper_aerodigestive_tract COSM5016576 MYST2 c.100_102delGGC p.G34delG Deletion - In frame Kidney COSM1453235 TRRAP c.11154G>A p.P3718P Substitution - coding silent Large_intestine COSM3513393 PRDM7 c.453G>A p.K151K Substitution - coding silent Skin COSM4954795 KMT2D c.15422T>C p.L5141P Substitution - Missense Liver COSM464992 RERE c.2958A>C p.P986P Substitution - coding silent Kidney COSM3751837 ERCC6 c.3289A>G p.M1097V Substitution - Missense Soft_tissue COSM5596289 ARID1A c.4852C>T p.P1618S Substitution - Missense Skin COSM5368725 SRCAP c.9224G>A p.G3075E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM301654 AICDA c.188G>A p.R63H Substitution - Missense Central_nervous_system COSM385733 HDAC6 c.1888G>A p.A630T Substitution - Missense Lung COSM226557 PRDM9 c.2527A>G p.N843D Substitution - Missense Skin COSM1619516 BRD8 c.2990C>A p.T997N Substitution - Missense Liver COSM3369465 RNF2 c.174G>C p.L58F Substitution - Missense Thyroid COSM983879 PHF23 c.367G>A p.D123N Substitution - Missense Large_intestine COSM2720061 CHD7 c.3856A>G p.I1286V Substitution - Missense Large_intestine COSM1979080 ALKBH3 c.276G>T p.L92F Substitution - Missense Large_intestine COSM1719512 KMT2C c.7612_7613CC>TT p.P2538F Substitution - Missense Skin COSM255058 KMT2A c.4427_4429delGTC p.R1478delR Deletion - In frame Stomach COSM305319 KDM6A c.618_619+2delAAGT p.? Unknown Breast COSM4050627 BAZ1A c.714C>T p.V238V Substitution - coding silent Stomach COSM5921730 PHF20 c.641C>T p.P214L Substitution - Missense Skin COSM3740672 GATAD2B c.227A>G p.E76G Substitution - Missense Liver COSM3861859 EHMT2 c.3404G>A p.R1135H Substitution - Missense Stomach COSM1245456 ARID2 c.2110C>G p.Q704E Substitution - Missense Stomach COSM5890072 CHD1 c.5068C>T p.P1690S Substitution - Missense Skin COSM466564 PRDM10 c.1834T>C p.F612L Substitution - Missense Kidney COSM228670 BPTF c.5170C>T p.P1724S Substitution - Missense Skin COSM1118569 RBBP7 c.539A>G p.Y180C Substitution - Missense Endometrium COSM5464960 ADNP c.2808C>T p.Y936Y Substitution - coding silent Large_intestine COSM1262963 PRDM9 c.2531A>C p.K844T Substitution - Missense Oesophagus COSM5518548 PRMT10 c.1409G>A p.S470N Substitution - Missense Biliary_tract COSM1183547 ARID1A c.3827G>A p.R1276Q Substitution - Missense Large_intestine COSM353640 SMARCA2 c.4207G>A p.V1403M Substitution - Missense Lung COSM37029 EZH2 c.1937A>C p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5951771 MYST3 c.5850T>G p.P1950P Substitution - coding silent Oesophagus COSM4807523 CHD8 c.3166A>T p.I1056F Substitution - Missense Pancreas COSM370221 ARID1B c.5873G>T p.G1958V Substitution - Missense Lung COSM308193 RBBP7 c.98_109del12 p.L33_T36delLVMT Deletion - In frame Biliary_tract COSM3389678 DNMT3B c.1907T>A p.I636N Substitution - Missense Pancreas COSM4900498 EHMT2 c.1161C>T p.V387V Substitution - coding silent Skin COSM1190866 CBX5 c.40_42delTCA p.S14delS Deletion - In frame Lung COSM3772095 RERE c.974G>A p.C325Y Substitution - Missense Pancreas COSM3974948 CLOCK c.2475A>G p.Q825Q Substitution - coding silent Central_nervous_system COSM1384124 MYST2 c.1505delA p.V504fs*14 Deletion - Frameshift Large_intestine COSM1454663 ATAD2 c.354_355insA p.E119fs*18 Insertion - Frameshift Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1578110 ARID1A c.6156C>A p.C2052* Substitution - Nonsense Urinary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5944514 TET2 c.3845_3846insTGC p.A1283_S1284insA Insertion - In frame Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM745891 KMT2C c.10558C>T p.P3520S Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2151207 PRDM9 c.1007A>T p.H336L Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4159761 NSD1 c.6903G>C p.G2301G Substitution - coding silent Soft_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4799095 BRPF3 c.3054C>T p.L1018L Substitution - coding silent Liver COSM464388 EYA3 c.694T>G p.L232V Substitution - Missense Kidney COSM28777 KDM6A c.514C>T p.R172* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1007221 MBD5 c.1476A>G p.S492S Substitution - coding silent Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4950400 NCOA7 c.712G>A p.G238S Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5020791 ARID1A c.5717G>A p.R1906Q Substitution - Missense Soft_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4839668 SCMH1 c.1480T>G p.S494A Substitution - Missense Cervix COSM1099540 ASH2L c.1593G>T p.K531N Substitution - Missense Endometrium COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM263599 SETBP1 c.1443A>C p.E481D Substitution - Missense Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1041687 FXR1 c.301G>A p.A101T Substitution - Missense Endometrium COSM1738146 EZH2 c.1_2256del2256 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM1213491 LMNB2 c.250C>T p.R84W Substitution - Missense Large_intestine COSM3723035 PHF2 c.2955T>C p.S985S Substitution - coding silent Upper_aerodigestive_tract COSM4635777 SMARCA1 c.2921T>C p.L974S Substitution - Missense Large_intestine COSM1965088 KAT6B c.1246A>T p.T416S Substitution - Missense Upper_aerodigestive_tract COSM1728268 BPTF c.4439G>T p.S1480I Substitution - Missense Liver COSM4534696 KDM3B c.2110G>A p.G704S Substitution - Missense Skin COSM254542 ARID1A c.5338G>T p.E1780* Substitution - Nonsense Urinary_tract COSM5371367 HELLS c.1574C>T p.P525L Substitution - Missense Skin COSM3812598 BAZ2A_ENST00000379441 c.3996C>T p.C1332C Substitution - coding silent Breast COSM939500 ARID2 c.1638T>G p.Y546* Substitution - Nonsense Endometrium COSM3360388 LMNA c.927C>G p.L309L Substitution - coding silent Kidney COSM5989604 TET2 c.5601_5602insCAT p.H1868_G1869insH Insertion - In frame Haematopoietic_and_lymphoid_tissue COSM368085 SMCHD1 c.44A>T p.H15L Substitution - Missense Lung COSM1419200 HDAC11 c.291C>A p.P97P Substitution - coding silent Large_intestine COSM451292 RING1 c.1004A>G p.E335G Substitution - Missense Upper_aerodigestive_tract COSM1239134 ING3 c.528G>A p.T176T Substitution - coding silent Oesophagus COSM1025787 DNMT3B c.438G>A p.L146L Substitution - coding silent Endometrium COSM1071747 PRDM1 c.1602C>T p.N534N Substitution - coding silent Endometrium COSM3974360 ZCWPW2 c.1013G>A p.C338Y Substitution - Missense Central_nervous_system COSM725900 DNMT3L c.783C>A p.F261L Substitution - Missense Lung COSM5709018 PRDM5 c.850G>A p.E284K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM23373 PCGF2 c.663G>A p.G221G Substitution - coding silent Skin COSM4085888 BAZ2B c.3154G>C p.E1052Q Substitution - Missense Stomach COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM35337 ASXL1 c.1830C>T p.G610G Substitution - coding silent Central_nervous_system COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Parathyroid COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM51436 ARID1A c.5503C>T p.Q1835* Substitution - Nonsense Ovary COSM51320 CHD3 c.4729G>A p.E1577K Substitution - Missense Breast COSM77927 KAT2B c.457G>A p.V153M Substitution - Missense Ovary COSM71657 MLL5 c.3683C>G p.S1228C Substitution - Missense Ovary COSM95511 WHSC1 c.1756G>C p.A586P Substitution - Missense Lung COSM87085 TET2 c.1240C>T p.Q414* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM87104 TET2 c.2474C>G p.S825* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM134070 KAT2B c.1853A>G p.K618R Substitution - Missense Skin COSM134109 CDYL c.1739C>T p.S580L Substitution - Missense Skin COSM149376 SETD2 c.4376C>T p.P1459L Substitution - Missense Prostate COSM218731 SMYD5 c.619G>C p.E207Q Substitution - Missense Pancreas COSM219286 GABRG1 c.313A>C p.I105L Substitution - Missense Breast COSM231556 DNMT3A c.1640T>A p.L547H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM254625 CREBBP c.4336C>G p.R1446G Substitution - Missense Urinary_tract COSM254840 NCOR1 c.197G>A p.R66Q Substitution - Missense Endometrium COSM283145 NCOA6 c.3626C>T p.P1209L Substitution - Missense Large_intestine COSM274531 CHD3 c.2031G>T p.K677N Substitution - Missense Large_intestine COSM274175 BTAF1 c.3722G>A p.R1241Q Substitution - Missense Large_intestine COSM312114 KDM4B c.60A>T p.P20P Substitution - coding silent Lung COSM315854 TDRD1 c.2684T>C p.L895S Substitution - Missense Lung COSM327313 PHF6 c.346C>T p.R116* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM355588 SMARCA2 c.2430G>T p.M810I Substitution - Missense Lung COSM382716 WHSC1 c.1322G>T p.R441M Substitution - Missense Lung COSM417011 CREBBP c.4990C>T p.R1664C Substitution - Missense Large_intestine COSM423157 PBRM1 c.4349_4350delAT p.Y1450fs*58 Deletion - Frameshift Kidney COSM427942 KAT6B c.3916A>T p.R1306W Substitution - Missense Breast COSM430196 HCFC2 c.451G>C p.D151H Substitution - Missense Breast COSM437716 CHD3 c.2095_2097delAAG p.K703delK Deletion - In frame Soft_tissue COSM433476 SMEK1 c.446C>T p.S149L Substitution - Missense Breast COSM450226 CHD1 c.688A>C p.R230R Substitution - coding silent Breast COSM468075 ATF7IP c.1392T>G p.N464K Substitution - Missense Kidney COSM976117 RAI1 c.1083G>A p.S361S Substitution - coding silent Endometrium COSM988382 SETBP1 c.2645C>T p.A882V Substitution - Missense Endometrium COSM686166 KMT2A c.6375T>A p.P2125P Substitution - coding silent Lung COSM955461 BAZ1A c.2841T>A p.P947P Substitution - coding silent Endometrium COSM1025789 DNMT3B c.540G>A p.T180T Substitution - coding silent Large_intestine COSM757495 ATRX c.2500G>A p.A834T Substitution - Missense Lung COSM708776 CBX4 c.1374G>C p.P458P Substitution - coding silent Lung COSM933543 KDM4D c.244C>T p.R82W Substitution - Missense Endometrium COSM999866 KDM4B c.2680G>A p.D894N Substitution - Missense Endometrium COSM1066317 NSD1 c.7769C>T p.P2590L Substitution - Missense Endometrium COSM1075249 JARID2 c.2091G>A p.L697L Substitution - coding silent Endometrium COSM1100812 CHD7 c.3709A>G p.N1237D Substitution - Missense Breast COSM1087607 KMT2C c.4727C>A p.S1576Y Substitution - Missense Endometrium COSM1080051 CDYL c.974A>G p.D325G Substitution - Missense Endometrium COSM1084038 PHF14 c.262G>T p.E88* Substitution - Nonsense Endometrium COSM1209409 HDAC9 c.183G>T p.K61N Substitution - Missense Large_intestine COSM1220358 PHF2 c.1559C>T p.T520M Substitution - Missense Large_intestine COSM1221875 PRDM14 c.659A>G p.H220R Substitution - Missense Oesophagus COSM1225368 SETD3 c.1091C>T p.T364I Substitution - Missense Large_intestine COSM1307608 DIDO1 c.4509G>A p.Q1503Q Substitution - coding silent Urinary_tract COSM1429841 GABRG1 c.506G>A p.R169Q Substitution - Missense Skin COSM1463737 PHF2 c.2949A>T p.P983P Substitution - coding silent Thyroid COSM1349250 TAF3 c.940C>T p.R314C Substitution - Missense Large_intestine COSM1355794 MEN1 c.1546delC p.R516fs*43 Deletion - Frameshift Large_intestine COSM1470624 APOBEC1 c.650C>T p.T217M Substitution - Missense Prostate COSM1614601 HDAC4 c.942C>T p.N314N Substitution - coding silent Liver COSM1617899 SFMBT1 c.2383A>C p.K795Q Substitution - Missense Liver COSM1631925 ATAD2B_ENST00000238789 c.1899_1900insT p.A634fs*2 Insertion - Frameshift Liver COSM1711324 MBD1 c.1429A>T p.T477S Substitution - Missense Skin COSM1719245 KDM4D c.88G>A p.D30N Substitution - Missense Skin COSM1726101 CREBBP c.5399G>A p.R1800Q Substitution - Missense Liver COSM1747801 ASH1L c.3809G>A p.R1270Q Substitution - Missense Urinary_tract COSM2160709 SFMBT2 c.908G>A p.G303E Substitution - Missense Upper_aerodigestive_tract COSM2221634 EED c.1054A>G p.I352V Substitution - Missense Large_intestine COSM2687882 NIPBL c.3465C>T p.D1155D Substitution - coding silent Large_intestine COSM2725393 SMARCA1 c.172G>A p.E58K Substitution - Missense Thyroid COSM2844348 SETD4 c.1080delA p.V361fs*6 Deletion - Frameshift Large_intestine COSM2859867 TRIM24 c.1535C>T p.P512L Substitution - Missense Skin COSM3089671 EHMT1 c.1919C>T p.T640M Substitution - Missense Large_intestine COSM3353057 TDRD6 c.791G>A p.R264H Substitution - Missense Large_intestine COSM3366679 ZCWPW1 c.208A>T p.K70* Substitution - Nonsense Kidney COSM3375957 RSF1 c.1084G>A p.E362K Substitution - Missense Pancreas COSM3505366 IDH2 c.410G>A p.G137E Substitution - Missense Skin COSM3488266 PRDM16 c.3796G>A p.E1266K Substitution - Missense Skin COSM3508974 SETD1A c.1212C>T p.R404R Substitution - coding silent Skin COSM3450150 GLYATL1 c.798G>A p.M266I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3524745 SMCHD1 c.824C>T p.S275L Substitution - Missense Skin COSM3662598 TDRD6 c.2792A>G p.N931S Substitution - Missense Liver COSM3728917 ATAD2 c.537-5delT p.? Unknown Stomach COSM3711153 PYGO2 c.550C>A p.P184T Substitution - Missense Upper_aerodigestive_tract COSM3798871 DNMT3A c.2640G>A p.M880I Substitution - Missense Urinary_tract COSM3817653 GTF3C1 c.4057C>T p.R1353* Substitution - Nonsense Breast COSM3859853 JARID2 c.3084C>T p.T1028T Substitution - coding silent Stomach COSM3859968 ARID1B c.1958C>T p.A653V Substitution - Missense Stomach COSM3848629 KIAA2026_ENST00000399933 c.5565A>C p.A1855A Substitution - coding silent Breast COSM3907607 UHRF2 c.2199C>T p.C733C Substitution - coding silent Prostate COSM3882237 BAZ1B c.1651C>T p.R551W Substitution - Missense Stomach COSM3957643 CHD9 c.839A>G p.H280R Substitution - Missense Lung COSM3970559 SETBP1 c.2529C>T p.C843C Substitution - coding silent Central_nervous_system COSM3984512 TDRD5 c.1589A>C p.H530P Substitution - Missense Kidney COSM3991927 SETD4 c.489A>G p.R163R Substitution - coding silent Kidney COSM4085355 EPC2 c.1141-2A>G p.? Unknown Stomach COSM4099097 NCOA3 c.2073T>C p.N691N Substitution - coding silent Stomach COSM4104187 CBX7 c.739C>T p.R247C Substitution - Missense Stomach COSM4110880 TAF1 c.1288C>T p.R430C Substitution - Missense Stomach COSM4110896 TAF1 c.2547C>T p.C849C Substitution - coding silent Stomach COSM4074058 SMARCA4 c.3831G>A p.P1277P Substitution - coding silent Stomach COSM4136391 ATRX c.4945G>A p.E1649K Substitution - Missense Ovary COSM4139031 PRDM1 c.556+8G>T p.? Unknown Ovary COSM4188287 ZMYM2 c.2846A>G p.E949G Substitution - Missense Kidney COSM4288486 TRIM28 c.2433G>C p.E811D Substitution - Missense Upper_aerodigestive_tract COSM4387434 BAP1 c.497_509del13 p.E166fs*17 Deletion - Frameshift Eye COSM4605444 KMT2D c.3874+1G>T p.? Unknown Upper_aerodigestive_tract COSM4425455 DNMT1 c.1918G>A p.D640N Substitution - Missense Oesophagus COSM4422928 RERE c.3616_3617ins14 p.A1206fs*56 Insertion - Frameshift Kidney COSM4477860 PRDM1 c.2082C>T p.I694I Substitution - coding silent Skin COSM4717451 PRDM11 c.614A>C p.K205T Substitution - Missense Large_intestine COSM4765944 KDM2B c.2070_2071insC p.D692fs*1 Insertion - Frameshift Stomach COSM4714014 PHF7 c.130G>A p.E44K Substitution - Missense Large_intestine COSM4609869 ACTA1 c.71C>T p.A24V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4627645 GATAD2A c.901A>G p.T301A Substitution - Missense Large_intestine COSM4791367 NIPBL c.1391C>T p.P464L Substitution - Missense Liver COSM4796874 SCML2 c.1305G>A p.Q435Q Substitution - coding silent Liver COSM4884581 PRDM15 c.1071G>T p.G357G Substitution - coding silent Upper_aerodigestive_tract COSM4841575 CHD4 c.543C>T p.F181F Substitution - coding silent Cervix COSM4852973 SETD2 c.2243C>T p.S748L Substitution - Missense Cervix COSM4949620 ARID1A c.5431_5441del11 p.L1812fs*6 Deletion - Frameshift Liver COSM5019699 HNF1A c.864G>C p.G288G Substitution - coding silent Soft_tissue COSM5153042 UHRF2 c.2281T>G p.F761V Substitution - Missense Large_intestine COSM5156663 BAHCC1 c.3865delC p.S1291fs*42 Deletion - Frameshift Large_intestine COSM5416381 L3MBTL2 c.2049G>A p.S683S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5576306 KMT2D c.4518_4520delCTT p.F1507delF Deletion - In frame Stomach COSM5636129 ATXN7 c.1620G>A p.W540* Substitution - Nonsense Oesophagus COSM5727590 ATAD2 c.2970G>A p.R990R Substitution - coding silent Skin COSM5599045 AIRE c.623G>A p.G208E Substitution - Missense Skin COSM5591084 GATAD2A c.711C>T p.A237A Substitution - coding silent Skin COSM5693362 KMT2D c.8453G>T p.G2818V Substitution - Missense Soft_tissue COSM5561240 DNMT3B c.2288A>G p.N763S Substitution - Missense Prostate COSM5561414 PRDM14 c.334C>T p.P112S Substitution - Missense Prostate COSM5779931 UHRF1 c.1890C>G p.N630K Substitution - Missense Breast COSM5816293 PRDM11 c.481A>G p.S161G Substitution - Missense Liver COSM5797680 SMARCC1 c.1937C>G p.S646W Substitution - Missense Breast COSM5932055 HDAC9 c.382C>T p.P128S Substitution - Missense Skin COSM5904708 BAZ2B c.4863+5G>A p.? Unknown Skin COSM5948068 KMT2D c.7641delG p.W2548fs*33 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM6000655 PRMT8 c.397G>T p.G133W Substitution - Missense Prostate COSM6018604 ATRX c.3854C>T p.S1285F Substitution - Missense Skin COSM1738040 ASXL1 c.? p.S1255* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM1583156 DNMT3A c.? p.K826N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51384 IDH1 c.? p.R132L Substitution - Missense Biliary_tract COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Bone COSM5415913 TET2 c.? p.W1198* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM130410 TET2 c.?_?del10 p.V1395fs Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM683251 TDRD1 c.818T>G p.F273C Substitution - Missense Lung COSM1128576 KMT2D c.9370C>T p.Q3124* Substitution - Nonsense Prostate COSM4787505 PCGF6 c.988G>A p.A330T Substitution - Missense Liver COSM211689 TET2 c.2280_2280delT p.P761fs*52 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4766124 TET2 c.4160A>G p.N1387S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM990749 SMARCA4 c.2713C>T p.R905C Substitution - Missense Endometrium COSM3770519 KDM6A c.3035G>A p.W1012* Substitution - Nonsense Soft_tissue COSM5414146 CDYL2 c.97G>A p.G33R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3887017 TP53BP1 c.1448C>T p.S483L Substitution - Missense Skin COSM3759496 KDM6A c.2177C>A p.T726K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5352946 TDRD10 c.577C>T p.R193C Substitution - Missense Large_intestine COSM1483747 ADNP c.260C>G p.S87C Substitution - Missense Breast COSM3685189 ACTB c.124-1G>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3735004 TET2 c.? p.Q129K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1720211 RAG2 c.1118G>A p.G373E Substitution - Missense Skin COSM3013870 PRDM9 c.2443A>T p.N815Y Substitution - Missense Upper_aerodigestive_tract COSM905245 ACTA1 c.15C>T p.D5D Substitution - coding silent Endometrium COSM5740019 ING1 c.719G>A p.C240Y Substitution - Missense Small_intestine COSM4717449 PRDM10 c.1490C>T p.T497M Substitution - Missense Large_intestine COSM3992490 KDM6A c.1576G>T p.G526W Substitution - Missense Pancreas COSM1169610 TET2 c.? p.N844fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM720790 NCOA1 c.2879T>C p.L960P Substitution - Missense Lung COSM4942827 BAHCC1 c.3525T>A p.H1175Q Substitution - Missense Liver COSM5006563 KDM5C c.? p.V783E Substitution - Missense Kidney COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM3371725 ADNP c.2676T>C p.P892P Substitution - coding silent Thyroid COSM4013846 EPC1 c.2046C>T p.I682I Substitution - coding silent Stomach COSM3455338 TDG c.911G>A p.R304Q Substitution - Missense Skin COSM41846 TET2 c.? p.R544* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5108289 GTF3C4 c.705delT p.F236fs*60 Deletion - Frameshift Large_intestine COSM5347098 ARID1A c.2581G>A p.A861T Substitution - Missense Endometrium COSM464490 ZMYM1 c.3257C>T p.S1086L Substitution - Missense Kidney COSM5124126 SETD5_ENST00000402198 c.4097delC p.T1366fs*4 Deletion - Frameshift Large_intestine COSM4974883 ERCC6 c.2135C>G p.T712S Substitution - Missense Oesophagus COSM5358032 PHF14 c.1636G>A p.A546T Substitution - Missense Large_intestine COSM2802782 CBX2 c.1425G>A p.S475S Substitution - coding silent Bone COSM5057593 BRWD1 c.1326C>T p.V442V Substitution - coding silent Stomach COSM1583129 DNMT3A c.2645G>T p.R882L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1266246 SMARCC1 c.3181T>G p.L1061V Substitution - Missense Oesophagus COSM4431473 CDYL2 c.1002C>A p.A334A Substitution - coding silent Oesophagus COSM4187632 KDM5C c.1688T>C p.L563P Substitution - Missense Kidney COSM316086 TP53BP1 c.1294G>A p.A432T Substitution - Missense Lung COSM78474 SETDB1 c.911A>G p.Y304C Substitution - Missense Ovary COSM3900252 MYST3 c.986G>A p.R329Q Substitution - Missense Stomach COSM4956709 KMT2D c.14589T>G p.C4863W Substitution - Missense Liver COSM3615210 PRDM9 c.1289C>T p.P430L Substitution - Missense Skin COSM3479309 TDRD5 c.2169C>T p.I723I Substitution - coding silent Skin COSM4162012 KMT2C c.2556A>T p.T852T Substitution - coding silent Large_intestine COSM3867909 TAF3 c.2421C>T p.L807L Substitution - coding silent Skin COSM4616698 PYGO2 c.840G>A p.P280P Substitution - coding silent Large_intestine COSM121308 NIPBL c.6057C>T p.L2019L Substitution - coding silent Upper_aerodigestive_tract COSM3969841 NCOR1 c.4070A>G p.Q1357R Substitution - Missense Central_nervous_system COSM4586386 JARID2 c.1301G>A p.R434Q Substitution - Missense Bone COSM1692875 ACTR8 c.1366C>T p.R456C Substitution - Missense Skin COSM341759 BPTF c.3582T>G p.S1194S Substitution - coding silent Lung COSM4603620 EZH2 c.? p.I651F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3735339 HDAC6 c.3353C>T p.A1118V Substitution - Missense Skin COSM4333311 EYA4 c.1246C>A p.L416I Substitution - Missense Biliary_tract COSM5596545 CTCF c.1850C>T p.P617L Substitution - Missense Skin COSM1375401 IDH2 c.473C>T p.P158L Substitution - Missense Central_nervous_system COSM1303241 BPTF c.3091C>A p.Q1031K Substitution - Missense Urinary_tract COSM5619374 BPTF c.5694G>A p.R1898R Substitution - coding silent Breast COSM94141 DNMT3A c.2687C>T p.P896L Substitution - Missense Lung COSM1045660 SMARCC1 c.1805G>A p.R602H Substitution - Missense Endometrium COSM3750167 SMARCA2 c.681G>A p.Q227Q Substitution - coding silent Large_intestine COSM3666472 MTA2 c.1016+5G>A p.? Unknown Liver COSM3205524 TBL1XR1 c.1340G>A p.S447N Substitution - Missense Skin COSM4016204 TAF3 c.2779C>T p.R927* Substitution - Nonsense Stomach COSM3677971 ARID4A c.1590G>A p.K530K Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4629495 SFMBT1 c.2054C>G p.S685C Substitution - Missense Large_intestine COSM1087576 KMT2C c.7361G>A p.R2454K Substitution - Missense Endometrium COSM3160243 PHF3 c.1078C>A p.L360I Substitution - Missense Large_intestine COSM5375281 KMT2D c.7764C>T p.S2588S Substitution - coding silent Skin COSM108018 TAF1L c.2349C>T p.I783I Substitution - coding silent Liver COSM282705 MBTD1 c.628-6C>A p.? Unknown Large_intestine COSM5725719 ARID1A c.3470G>A p.G1157E Substitution - Missense Skin COSM4889444 SMARCC1 c.1040G>T p.G347V Substitution - Missense Upper_aerodigestive_tract COSM1199773 CCDC101 c.215C>T p.A72V Substitution - Missense Large_intestine COSM5802840 DAXX c.73T>C p.S25P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1179447 BPTF c.8599G>A p.V2867M Substitution - Missense Prostate COSM1744865 BAP1 c.1666_1669delGTCA p.V556fs*14 Deletion - Frameshift Biliary_tract COSM3142264 CHD1 c.3960_3961insA p.E1321fs*17 Insertion - Frameshift Large_intestine COSM4972182 SIRT6 c.275C>T p.T92M Substitution - Missense Thyroid COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5963574 ATRX c.69A>G p.A23A Substitution - coding silent Breast COSM4988180 SFMBT2 c.2020C>G p.P674A Substitution - Missense Soft_tissue COSM43424 TET2 c.3725A>T p.D1242V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3092580 PHF8 c.128C>T p.A43V Substitution - Missense Large_intestine COSM5573359 SUV39H2 c.816+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1166761 CTCF c.86delG p.E30fs*32 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4085881 BAZ2B c.5664T>G p.I1888M Substitution - Missense Stomach COSM710264 DNMT1 c.3386A>G p.E1129G Substitution - Missense Lung COSM3515956 SUZ12 c.2166G>A p.L722L Substitution - coding silent Skin COSM75409 MGA c.1935C>A p.S645R Substitution - Missense Ovary COSM3763347 MYST3 c.4455C>T p.S1485S Substitution - coding silent Soft_tissue COSM5643528 SRCAP c.5680A>C p.K1894Q Substitution - Missense Oesophagus COSM4880081 BRWD3 c.1982G>C p.R661T Substitution - Missense Prostate COSM5814006 PRDM13 c.1778G>A p.R593Q Substitution - Missense Liver COSM4170138 TET2 c.3763_3767delTACGG p.Y1255fs*11 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1238126 ACTA1 c.665C>T p.A222V Substitution - Missense Oesophagus COSM96464 CREBBP c.4071delT p.F1358fs*18 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4605856 TRRAP c.7254G>T p.T2418T Substitution - coding silent Upper_aerodigestive_tract COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM308646 CHD6 c.3321_3322insT p.G1108fs*39 Insertion - Frameshift Lung COSM22582 MEN1 c.434_435insT p.F146fs*34 Insertion - Frameshift Pancreas COSM5647725 SND1 c.832C>T p.L278F Substitution - Missense Oesophagus COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM119816 SFMBT2 c.213G>C p.Q71H Substitution - Missense Ovary COSM3496570 ARID4A c.2605A>T p.I869L Substitution - Missense Skin COSM4900150 TDRD3 c.1003C>T p.R335C Substitution - Missense Skin COSM1469464 ATRX c.3953delA p.N1318fs*28 Deletion - Frameshift Large_intestine COSM1334446 TDRD10 c.573C>T p.S191S Substitution - coding silent Large_intestine COSM121541 PHF2 c.2736A>G p.P912P Substitution - coding silent Upper_aerodigestive_tract COSM3656492 SMARCA2 c.1130C>T p.T377I Substitution - Missense Skin COSM351885 KDM4C c.2425-2A>T p.? Unknown Lung COSM3668537 PRMT2 c.1272T>C p.V424V Substitution - coding silent Liver COSM5384764 SETD1A c.224_225CC>TT p.S75F Substitution - Missense Skin COSM4749438 SFMBT2 c.411C>A p.N137K Substitution - Missense Stomach COSM985534 CHD3 c.5574C>T p.N1858N Substitution - coding silent Endometrium COSM5691119 RNF134 c.84delT p.V29fs*73 Deletion - Frameshift Soft_tissue COSM221740 MLL5 c.2979A>C p.Q993H Substitution - Missense Skin COSM1315512 KDM6A c.439C>T p.Q147* Substitution - Nonsense Urinary_tract COSM5042428 EYA1 c.197G>A p.G66D Substitution - Missense Liver COSM3896564 ATAD2 c.464G>A p.R155H Substitution - Missense Stomach COSM3488293 PHC2 c.1704C>T p.I568I Substitution - coding silent Skin COSM1155719 ASXL1 c.3506C>T p.S1169F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4749417 SFMBT2 c.2402C>A p.P801H Substitution - Missense Stomach COSM3687908 TDG c.268A>G p.K90E Substitution - Missense Large_intestine COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1381140 NCOR1 c.422C>T p.A141V Substitution - Missense Large_intestine COSM3112883 SRCAP c.3168C>T p.A1056A Substitution - coding silent Large_intestine COSM4651810 SIRT1 c.2227C>T p.P743S Substitution - Missense Large_intestine COSM4603902 KMT2D c.11192_11193insT p.M3731fs*11 Insertion - Frameshift Upper_aerodigestive_tract COSM1128983 SRCAP c.2952A>C p.P984P Substitution - coding silent Prostate COSM1629738 IDH2 c.154G>T p.E52* Substitution - Nonsense Liver COSM1025793 DNMT3B c.895C>T p.R299* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM29493 SMARCB1 c.796_1158del363 p.L266_*386del Deletion - In frame Central_nervous_system COSM328564 NIPBL c.423T>A p.N141K Substitution - Missense Kidney COSM3854995 NIPBL c.179A>G p.N60S Substitution - Missense Stomach COSM147497 KMT2D c.2015-8C>T p.? Unknown Stomach COSM5747819 NCOR1 c.3460T>C p.S1154P Substitution - Missense Pancreas COSM5930799 ZMYM4 c.3728G>A p.R1243H Substitution - Missense Skin COSM1201018 CHD9 c.4598G>A p.R1533Q Substitution - Missense Large_intestine COSM1716589 BAP1 c.1117-?_1890+?del p.? Unknown Pleura COSM23012 MEN1 c.341_376>TC p.S114fs*60 Complex - frameshift Parathyroid COSM3760179 ACTR8 c.1200C>T p.I400I Substitution - coding silent Thyroid COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2191111 RAD54L c.729C>T p.I243I Substitution - coding silent Breast COSM5722747 SETBP1 c.2717C>T p.P906L Substitution - Missense Skin COSM5021106 EP300 c.678C>G p.G226G Substitution - coding silent Soft_tissue COSM1066212 NSD1 c.1634C>T p.T545M Substitution - Missense Endometrium COSM5796593 SMARCC1 c.2608G>C p.A870P Substitution - Missense Breast COSM4827864 KMT2D c.12229C>T p.Q4077* Substitution - Nonsense Cervix COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1667362 PHC2 c.1683G>T p.Q561H Substitution - Missense Large_intestine COSM365973 ASH1L c.7982-2A>T p.? Unknown Lung COSM5603863 KDM2A c.2339C>T p.P780L Substitution - Missense Skin COSM272383 BAZ2B c.816A>T p.E272D Substitution - Missense Large_intestine COSM42016 TET2 c.4393C>T p.R1465* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4385232 EP300 c.38C>T p.A13V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1673718 KMT2C c.491G>A p.R164K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5346910 ARID1A c.2186_2189delCCAG p.P729fs*12 Deletion - Frameshift Endometrium COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5959281 KDM6B c.2716C>G p.P906A Substitution - Missense Thyroid COSM3660326 MECOM c.360C>T p.R120R Substitution - coding silent Liver COSM2157050 ATF7IP c.3501G>A p.K1167K Substitution - coding silent Central_nervous_system COSM1316366 JMJD1C c.349T>G p.S117A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3667852 CREBBP c.2977C>T p.P993S Substitution - Missense Liver COSM4613229 BTAF1 c.1699_1700insT p.Q569fs*25 Insertion - Frameshift Large_intestine COSM3873171 DAXX c.1191G>A p.R397R Substitution - coding silent Stomach COSM4169953 DNMT3A c.2063G>A p.R688H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM750339 MYST3 c.1603C>T p.P535S Substitution - Missense Lung COSM4605050 ASH1L c.3023C>G p.S1008* Substitution - Nonsense Upper_aerodigestive_tract COSM4963170 RSF1 c.273G>C p.L91F Substitution - Missense Pancreas COSM216715 DUSP1 c.494G>T p.S165I Substitution - Missense Pancreas COSM96451 CREBBP c.? p.P688A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1309364 PBRM1 c.2335C>G p.Q779E Substitution - Missense Urinary_tract COSM4109554 KDM6A c.1646G>C p.R549T Substitution - Missense Stomach COSM3906182 EHMT1 c.2291C>T p.A764V Substitution - Missense Stomach COSM12927 STK31 c.2050C>T p.H684Y Substitution - Missense Skin COSM3508167 JMJD5 c.1065C>T p.H355H Substitution - coding silent Skin COSM5548445 BAZ1B c.345T>G p.A115A Substitution - coding silent Prostate COSM42012 TET2 c.1974_1975delCC p.H658fs*22 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1666659 DNMT3A c.855+1G>C p.? Unknown Ovary COSM85829 MEN1 c.65T>G p.L22R Substitution - Missense Pancreas COSM993 SMARCB1 c.601C>T p.R201* Substitution - Nonsense Large_intestine COSM3716320 PHF2 c.2453G>T p.G818V Substitution - Missense Upper_aerodigestive_tract COSM4963841 DNMT3A c.2412G>T p.P804P Substitution - coding silent Pancreas COSM1108211 TAF1L c.5152G>T p.V1718L Substitution - Missense Endometrium COSM4187309 TAF3 c.2534G>T p.R845L Substitution - Missense Kidney COSM362198 ATXN7 c.1665G>T p.L555L Substitution - coding silent Lung COSM1214639 MBD4 c.104+1G>T p.? Unknown Large_intestine COSM1107415 PSIP1 c.875G>T p.R292M Substitution - Missense Endometrium COSM2917607 MYST1 c.671G>A p.R224H Substitution - Missense Oesophagus COSM920533 KAT6B c.4121G>A p.G1374E Substitution - Missense Large_intestine COSM941543 SMARCC2 c.3218T>G p.V1073G Substitution - Missense Endometrium COSM259531 ASXL3 c.775C>A p.H259N Substitution - Missense Large_intestine COSM3583819 KDM3A c.2738C>T p.S913F Substitution - Missense Skin COSM5751628 TET2 c.2334_2335insT p.T779fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM931011 KDM2A c.70G>T p.D24Y Substitution - Missense Endometrium COSM3463551 BAZ2A c.918C>T p.V306V Substitution - coding silent Skin COSM1235381 BAP1 c.862_920del59 p.A288fs*90 Deletion - Frameshift Eye COSM1169340 HDAC7 c.497_498insA p.K167fs*35 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1009810 ATF2 c.617G>T p.R206M Substitution - Missense Endometrium COSM132883 EZH2 c.1991A>C p.D664A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1067677 NIPBL c.4140G>A p.Q1380Q Substitution - coding silent Endometrium COSM4169530 TET2 c.? p.R1359C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM723973 NCOA6 c.2746A>T p.K916* Substitution - Nonsense Lung COSM2270960 TET2 c.2123C>G p.S708* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4590050 PRDM10 c.1332A>C p.E444D Substitution - Missense Upper_aerodigestive_tract COSM4046309 MPHOSPH8 c.1843G>A p.D615N Substitution - Missense Stomach COSM4169590 EZH2 c.? p.V522G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM94717 MLLT6 c.3278G>C p.G1093A Substitution - Missense Prostate COSM4901437 PHF21B c.132G>A p.T44T Substitution - coding silent Skin COSM1028971 DIDO1 c.4493A>G p.E1498G Substitution - Missense Endometrium COSM4602263 EP300 c.6019C>T p.Q2007* Substitution - Nonsense Upper_aerodigestive_tract COSM3799622 NCOA3 c.2619C>G p.I873M Substitution - Missense Oesophagus COSM5550913 JMJD1C c.3637T>C p.C1213R Substitution - Missense Prostate COSM2149913 BAHD1 c.381C>T p.L127L Substitution - coding silent Central_nervous_system COSM3662940 TRIM24 c.1879-2A>T p.? Unknown Liver COSM4422820 SMARCA4 c.2239G>A p.A747T Substitution - Missense Kidney COSM370644 MORF4L2 c.756G>T p.L252F Substitution - Missense Lung COSM4182202 BTAF1 c.4864-9C>T p.? Unknown Biliary_tract COSM5024579 PBRM1 c.2324C>T p.T775I Substitution - Missense Large_intestine COSM4100176 DIDO1 c.6326C>T p.A2109V Substitution - Missense Stomach COSM5720045 PBRM1 c.3588C>T p.F1196F Substitution - coding silent Skin COSM247483 SMYD4 c.1120A>G p.I374V Substitution - Missense Prostate COSM366166 SETD3 c.840C>T p.T280T Substitution - coding silent Skin COSM88208 IDH1 c.299G>A p.R100Q Substitution - Missense Central_nervous_system COSM3394630 KMT2C c.3046G>A p.A1016T Substitution - Missense Pancreas COSM5821207 CHD6 c.3376A>T p.N1126Y Substitution - Missense Liver COSM5669894 TAF3 c.1652A>G p.D551G Substitution - Missense Soft_tissue COSM5989685 TET2 c.3954G>A p.E1318E Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM359128 BPTF c.6321C>T p.S2107S Substitution - coding silent Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3734184 NCOA1 c.1964A>C p.K655T Substitution - Missense Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1600853 GATAD2B c.928C>T p.R310C Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5051595 ARID2 c.2170delC p.Q725fs*33 Deletion - Frameshift Stomach COSM85096 KMT2C c.6005G>A p.G2002E Substitution - Missense Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3388797 DOT1L c.5088C>T p.P1696P Substitution - coding silent Pancreas COSM4020852 TRIM33 c.3232A>G p.T1078A Substitution - Missense Stomach COSM5467064 EZH2 c.442G>T p.E148* Substitution - Nonsense Large_intestine COSM5352568 TDRD5 c.767delA p.K257fs*5 Deletion - Frameshift Large_intestine COSM41741 TET2 c.5618T>C p.I1873T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM302137 EP400 c.8181A>G p.Q2727Q Substitution - coding silent Central_nervous_system COSM1562786 TDRD3 c.689T>A p.L230H Substitution - Missense Large_intestine COSM5018721 MECOM c.233A>C p.K78T Substitution - Missense Soft_tissue COSM1216857 NCOA2 c.2860T>C p.W954R Substitution - Missense Large_intestine COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Bone COSM4824659 RNF17 c.107G>A p.G36E Substitution - Missense Cervix COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM4186183 BAZ2B c.3701delA p.N1234fs*8 Deletion - Frameshift Kidney COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM1681609 ASXL1 c.1773C>A p.Y591* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3744615 TP53BP1 c.1059C>G p.D353E Substitution - Missense Large_intestine COSM1478997 CTCF c.677A>G p.Y226C Substitution - Missense Breast COSM257803 PRDM9 c.900C>A p.N300K Substitution - Missense Large_intestine COSM4169189 PRMT2 c.730A>C p.M244L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM394329 PHIP c.62G>T p.R21L Substitution - Missense Lung COSM3092504 PHF8 c.1528G>C p.E510Q Substitution - Missense Upper_aerodigestive_tract COSM255312 SMARCA4 c.3727C>T p.R1243W Substitution - Missense Pancreas COSM3909973 HDAC4 c.2222C>T p.S741L Substitution - Missense Skin COSM3396632 ARID1B c.5620G>A p.A1874T Substitution - Missense Prostate COSM132968 ASXL1 c.? p.E635fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM1733347 PRMT10 c.847-3delT p.? Unknown Pancreas COSM252836 SMEK2 c.1852C>T p.R618C Substitution - Missense Large_intestine COSM4937740 TDRD1 c.929A>G p.D310G Substitution - Missense Liver COSM37030 EZH2 c.1936T>C p.Y646H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85923 ASXL1 c.1934_1934delG p.G645fs*58 Deletion - Frameshift Large_intestine COSM51250 ARID1A c.289G>T p.E97* Substitution - Nonsense Ovary COSM85811 DAXX c.1219_1219delG p.D407fs*121 Deletion - Frameshift Pancreas COSM98327 KMT2C c.8204T>C p.L2735S Substitution - Missense Upper_aerodigestive_tract COSM87083 TET2 c.1137_1138TT>C p.Y380fs*47 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM88783 EP300 c.4796G>A p.R1599H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96425 EP300 c.6662C>A p.P2221Q Substitution - Missense Large_intestine COSM128730 NCOA3 c.3763_3765delCAG p.Q1255delQ Deletion - In frame Liver COSM150486 ASH2L c.1720-7G>A p.? Unknown Stomach COSM217035 ARID1A c.1169_1170insT p.M390fs*10 Insertion - Frameshift Liver COSM220682 KMT2D c.10927C>T p.Q3643* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Prostate COSM297068 PHF2 c.2961C>A p.T987T Substitution - coding silent Lung COSM293040 WHSC1 c.1740G>A p.S580S Substitution - coding silent Oesophagus COSM367586 ZBTB33 c.1847G>T p.G616V Substitution - Missense Lung COSM444192 DIDO1 c.483G>A p.L161L Substitution - coding silent Breast COSM460407 SMYD4 c.2364G>T p.M788I Substitution - Missense Cervix COSM458123 BRWD3 c.5097A>T p.R1699S Substitution - Missense Breast COSM981380 MBTD1 c.837C>T p.V279V Substitution - coding silent Endometrium COSM480330 PBRM1 c.3154C>T p.R1052* Substitution - Nonsense Kidney COSM693898 ARID2 c.4591C>T p.P1531S Substitution - Missense Skin COSM953997 MTA1 c.34G>A p.V12I Substitution - Missense Large_intestine COSM1017598 SP140_ENST00000392045 c.770C>T p.A257V Substitution - Missense Endometrium COSM1025789 DNMT3B c.540G>A p.T180T Substitution - coding silent Endometrium COSM751043 CHD7 c.6514G>A p.E2172K Substitution - Missense Lung COSM704854 RAI1 c.178G>C p.E60Q Substitution - Missense Lung COSM730686 SMARCC1 c.1205G>T p.G402V Substitution - Missense Lung COSM726943 TCF20 c.2281C>A p.H761N Substitution - Missense Lung COSM913241 BRDT c.1715C>T p.S572L Substitution - Missense Endometrium COSM1071554 CHD1 c.732G>A p.E244E Substitution - coding silent Large_intestine COSM1122159 SUV39H1 c.882C>T p.G294G Substitution - coding silent Endometrium COSM1101393 PRDM14 c.1083G>T p.E361D Substitution - Missense Endometrium COSM1081843 PHIP c.4810T>C p.S1604P Substitution - Missense Endometrium COSM1085208 SND1 c.2504C>T p.A835V Substitution - Missense Endometrium COSM1079905 TDRD6 c.4035C>T p.P1345P Substitution - coding silent Endometrium COSM1251474 ERCC6 c.2932T>A p.F978I Substitution - Missense Oesophagus COSM1209401 HDAC9 c.2358C>G p.H786Q Substitution - Missense Large_intestine COSM1180830 CTCF c.603_604insA p.T204fs*26 Insertion - Frameshift Large_intestine COSM1162748 BRD9 c.928A>T p.M310L Substitution - Missense Upper_aerodigestive_tract COSM1605657 HNF1A c.326+3A>G p.? Unknown Liver COSM1299452 KMT2D c.1243G>T p.E415* Substitution - Nonsense Urinary_tract COSM1333898 SETDB1 c.3581G>A p.R1194H Substitution - Missense Large_intestine COSM1377531 SETD1A c.2435G>T p.R812L Substitution - Missense Large_intestine COSM1388978 MBD1 c.1037G>A p.R346Q Substitution - Missense Large_intestine COSM1415161 SMARCB1 c.158G>A p.R53Q Substitution - Missense Large_intestine COSM1425734 SETD5_ENST00000402198 c.737A>G p.K246R Substitution - Missense Large_intestine COSM1440580 EYA4 c.720G>T p.M240I Substitution - Missense Large_intestine COSM1561871 PRDM4 c.2149T>A p.L717I Substitution - Missense Large_intestine COSM1566684 PBRM1 c.2211A>G p.T737T Substitution - coding silent Soft_tissue COSM1622602 KMT2C c.1622-6G>C p.? Unknown Liver COSM1639853 ZMYM1 c.272G>A p.G91D Substitution - Missense Stomach COSM1683336 BRPF1 c.2206_2207insC p.R736fs*13 Insertion - Frameshift Lung COSM1644835 NSD1 c.4289G>C p.G1430A Substitution - Missense Salivary_gland COSM1676888 ARID2 c.551C>A p.S184* Substitution - Nonsense Large_intestine COSM1641360 NCOA5 c.82C>T p.R28* Substitution - Nonsense Stomach COSM1698027 EYA4 c.1760G>A p.R587Q Substitution - Missense Skin COSM1713600 EYA2 c.1003G>A p.D335N Substitution - Missense Skin COSM1704051 GLYATL1 c.71G>A p.G24E Substitution - Missense Skin COSM1660709 ATRX c.2674G>A p.E892K Substitution - Missense Kidney COSM1662791 KMT2C c.6710C>T p.S2237L Substitution - Missense Kidney COSM2149861 DOT1L c.2384_2386delCGG p.A797delA Deletion - In frame Central_nervous_system COSM2229155 EP400 c.5303C>A p.T1768N Substitution - Missense Large_intestine COSM2269482 BAHD1 c.1649G>A p.R550H Substitution - Missense Large_intestine COSM3153235 EP300 c.6963_6964insC p.H2324fs*55 Insertion - Frameshift Large_intestine COSM3205534 TBL1XR1 c.971_973delCTT p.S324delS Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM3262395 KMT2C c.14181C>T p.H4727H Substitution - coding silent Large_intestine COSM3394495 ING3 c.773A>G p.N258S Substitution - Missense Pancreas COSM3378513 MBD1 c.1237C>T p.R413* Substitution - Nonsense Pancreas COSM3410735 ARID1B c.4725C>T p.T1575T Substitution - coding silent Central_nervous_system COSM3397660 RAG2 c.1381C>A p.L461M Substitution - Missense Central_nervous_system COSM3419569 BRDT c.738A>C p.K246N Substitution - Missense Large_intestine COSM3440609 KAT6B c.2157C>T p.Y719Y Substitution - coding silent Skin COSM3439587 JMJD1C c.2335G>A p.D779N Substitution - Missense Skin COSM3625710 DAXX c.1220A>T p.D407V Substitution - Missense Skin COSM3608578 PHF15 c.1881G>A p.K627K Substitution - coding silent Skin COSM3656846 TAF1L c.3160G>A p.E1054K Substitution - Missense Skin COSM3694591 KDM6A c.661T>C p.Y221H Substitution - Missense Large_intestine COSM3693575 ADNP c.674G>A p.R225Q Substitution - Missense Large_intestine COSM3730727 NCOA3 c.2953+5G>A p.? Unknown Stomach COSM3712467 KDM6B c.3276G>T p.L1092L Substitution - coding silent Upper_aerodigestive_tract COSM3752792 TRIM66 c.1397A>G p.H466R Substitution - Missense Upper_aerodigestive_tract COSM3780480 KDM6A c.4176+2T>C p.? Unknown Pancreas COSM3825232 SETD7 c.127G>A p.G43R Substitution - Missense Stomach COSM3848330 TAF1L c.3643C>T p.R1215C Substitution - Missense Thyroid COSM3879517 KMT2C c.11790C>T p.A3930A Substitution - coding silent Large_intestine COSM3901386 EYA1 c.524C>A p.P175H Substitution - Missense Stomach COSM3979777 SETDB1 c.447+9G>C p.? Unknown Ovary COSM4018294 KMT2A c.2656C>T p.R886W Substitution - Missense Stomach COSM3991934 BRWD1 c.3936C>A p.N1312K Substitution - Missense Kidney COSM4072242 SETBP1 c.2555C>T p.T852M Substitution - Missense Stomach COSM4066516 KAT2A c.459C>A p.P153P Substitution - coding silent Stomach COSM4170050 TET2 c.3409+2T>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4171965 TAF1 c.1985T>G p.M662R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4604442 ASXL1 c.160G>A p.A54T Substitution - Missense Upper_aerodigestive_tract COSM4605167 MSH6 c.3417C>A p.G1139G Substitution - coding silent Upper_aerodigestive_tract COSM4445213 CHD7 c.1024delC p.Q342fs*10 Deletion - Frameshift Large_intestine COSM4577260 ZMYM1 c.3253A>G p.N1085D Substitution - Missense Bone COSM4517941 PRDM2 c.470_471CC>TT p.A157V Substitution - Missense Skin COSM4499992 MGA c.5701C>T p.P1901S Substitution - Missense Skin COSM4433198 NCOA6 c.1676-4delT p.? Unknown Skin COSM4456917 CBX8 c.1027C>T p.L343L Substitution - coding silent Skin COSM4454205 TET2 c.433A>T p.S145C Substitution - Missense Skin COSM4717885 PRMT5 c.240G>A p.T80T Substitution - coding silent Large_intestine COSM4700980 MBD5 c.3153delT p.Q1053fs*19 Deletion - Frameshift Large_intestine COSM4725145 SETD1A c.3947G>A p.R1316Q Substitution - Missense Prostate COSM4742937 ZMYM6 c.1136C>T p.P379L Substitution - Missense Stomach COSM4730986 SUV420H1 c.2193T>C p.N731N Substitution - coding silent Large_intestine COSM4625209 TET2 c.948T>A p.F316L Substitution - Missense Large_intestine COSM4749711 PHC1 c.1912G>T p.A638S Substitution - Missense Stomach COSM4806514 KMT2C c.60G>A p.E20E Substitution - coding silent Liver COSM4881838 PBRM1 c.3841G>T p.A1281S Substitution - Missense Upper_aerodigestive_tract COSM4835089 MECOM c.639C>G p.C213W Substitution - Missense Cervix COSM4957048 RAG2 c.507A>T p.T169T Substitution - coding silent Liver COSM4952542 NSD1 c.6044A>G p.Y2015C Substitution - Missense Liver COSM4995788 CHD3 c.121C>A p.L41M Substitution - Missense Upper_aerodigestive_tract COSM4976706 NCOA2 c.607C>T p.L203L Substitution - coding silent Oesophagus COSM5019244 KMT2D c.9382A>G p.M3128V Substitution - Missense Soft_tissue COSM5015975 SP140_ENST00000392045 c.1445-6_1454del16 p.? Unknown Kidney COSM5019221 TRIM33 c.1303-10delT p.? Unknown Soft_tissue COSM5048898 KMT2D c.5221G>T p.E1741* Substitution - Nonsense Oesophagus COSM5404412 EYA4 c.1739G>A p.G580E Substitution - Missense Skin COSM5375646 BAZ2A c.4905G>A p.R1635R Substitution - coding silent Skin COSM5443878 TRRAP c.9147G>C p.K3049N Substitution - Missense Oesophagus COSM5455566 KMT2C c.1702G>A p.G568S Substitution - Missense Large_intestine COSM5647299 SRCAP c.6494+1G>T p.? Unknown Oesophagus COSM5760453 NCOR1 c.1989A>T p.K663N Substitution - Missense Bone COSM5689779 NIPBL c.33T>C p.T11T Substitution - coding silent Soft_tissue COSM5671020 EP400 c.271C>G p.L91V Substitution - Missense Soft_tissue COSM5752179 KMT2C c.2678delA p.K893fs*20 Deletion - Frameshift Breast COSM5680195 TDRD6 c.395C>A p.A132E Substitution - Missense Soft_tissue COSM5700114 ZMYM4 c.560A>T p.H187L Substitution - Missense Soft_tissue COSM5611460 BAP1 c.1290_1299del10 p.S430fs*138 Deletion - Frameshift Pleura COSM5562699 ADNP c.1769C>T p.P590L Substitution - Missense Prostate COSM5773903 ZBTB38 c.2420A>T p.N807I Substitution - Missense Breast COSM5773796 CHD6 c.8009A>C p.E2670A Substitution - Missense Breast COSM5818939 SETD2 c.4998A>T p.P1666P Substitution - coding silent Liver COSM5807661 JMJD1C c.3821A>T p.Q1274L Substitution - Missense Liver COSM5945572 PHF6 c.68A>G p.N23S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5949173 NSD1 c.1011G>A p.W337* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5935378 CHD7 c.686C>T p.T229I Substitution - Missense Skin COSM5907784 TCF20 c.319C>T p.P107S Substitution - Missense Skin COSM5931872 PHIP c.2044C>T p.H682Y Substitution - Missense Skin COSM5906952 CHD8 c.2731G>A p.G911R Substitution - Missense Skin COSM5959857 ARID1B c.889_890insGCA p.G297_G298insS Insertion - In frame Thyroid COSM5954436 EYA4 c.1738+6G>C p.? Unknown Upper_aerodigestive_tract COSM5987158 PRMT8 c.1020C>G p.F340L Substitution - Missense Salivary_gland COSM4172504 KDM6A c.? p.T726K Substitution - Missense Skin COSM52989 DNMT3A c.? p.P904L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1737979 BAP1 c.? p.? Unknown Eye COSM4167250 TET2 c.? p.S890A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41995 TET2 c.2570_2570delA p.N857fs*16 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM5757628 PBRM1 c.? p.? Unknown Kidney COSM758045 UTY c.1911T>C p.N637N Substitution - coding silent Lung COSM5078071 KDM2B c.1539C>T p.N513N Substitution - coding silent Large_intestine COSM4714183 PHRF1 c.3978C>T p.H1326H Substitution - coding silent Large_intestine COSM3990373 TRIM28 c.521G>A p.C174Y Substitution - Missense Kidney COSM5704942 PYGO2 c.560T>G p.V187G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4577169 ARID1A c.4606G>A p.D1536N Substitution - Missense Bone COSM21481 HNF1A c.872_873insC p.G292fs*25 Insertion - Frameshift Liver COSM329085 TET2 c.4513G>A p.A1505T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1628624 HDAC7 c.2238+10T>C p.? Unknown Liver COSM3928194 ARID1B c.4591C>G p.H1531D Substitution - Missense Central_nervous_system COSM468679 BAZ2A_ENST00000379441 c.4382G>T p.R1461L Substitution - Missense Kidney COSM3692115 SETBP1 c.630C>A p.H210Q Substitution - Missense Large_intestine COSM1388376 SMCHD1 c.2437C>A p.P813T Substitution - Missense Large_intestine COSM314117 PHC2 c.2246C>G p.P749R Substitution - Missense Lung COSM1077967 RING1 c.284G>A p.R95Q Substitution - Missense Endometrium COSM3685189 ACTB c.124-1G>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4070281 KDM6B c.380C>T p.T127I Substitution - Missense Stomach COSM3113024 SRCAP c.8168G>A p.R2723H Substitution - Missense Large_intestine COSM3357731 PBRM1 c.364A>T p.N122Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5623507 MECOM c.265A>G p.S89G Substitution - Missense Oesophagus COSM4043687 BAZ2A_ENST00000379441 c.1436C>A p.A479E Substitution - Missense Stomach COSM4401765 DIDO1 c.1570C>T p.P524S Substitution - Missense Skin COSM4060700 CREBBP c.4992C>T p.R1664R Substitution - coding silent Stomach COSM1168805 MGA c.7194C>T p.H2398H Substitution - coding silent Pancreas COSM456719 SMARCA1 c.2359delC p.Q787fs*25 Deletion - Frameshift Breast COSM95063 PRDM16 c.1404G>A p.M468I Substitution - Missense Lung COSM5590766 EP400 c.2111C>T p.S704F Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5561517 KAT6B c.3912C>G p.P1304P Substitution - coding silent Prostate COSM4411178 DOT1L c.3751A>C p.I1251L Substitution - Missense Kidney COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1468558 SMC1A c.563G>A p.R188H Substitution - Missense Large_intestine COSM3829240 SHPRH c.23C>T p.A8V Substitution - Missense Breast COSM3469194 SETDB2 c.1708C>T p.P570S Substitution - Missense Skin COSM1667706 BRDT c.1309C>T p.L437F Substitution - Missense Large_intestine COSM5720735 PRDM1 c.1940G>T p.R647L Substitution - Missense Skin COSM3583873 SMYD1 c.1073C>T p.S358L Substitution - Missense Skin COSM4384588 KMT2A c.3755C>A p.P1252H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5360480 PHRF1 c.2098G>A p.G700R Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM254612 CHD6 c.1864A>T p.K622* Substitution - Nonsense Urinary_tract COSM4162008 KMT2C c.2578C>T p.P860S Substitution - Missense Large_intestine COSM3525438 ASXL3 c.1765G>A p.E589K Substitution - Missense Skin COSM3992573 TAF1 c.3720G>A p.K1240K Substitution - coding silent Kidney COSM5409746 CHD7 c.6240C>T p.L2080L Substitution - coding silent Skin COSM3089661 EHMT1 c.1741C>T p.R581C Substitution - Missense Large_intestine COSM4807538 KMT2D c.14332C>G p.R4778G Substitution - Missense Pancreas COSM5650847 ACTR5 c.1779C>T p.S593S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3941929 MLL5 c.4369C>T p.H1457Y Substitution - Missense Oesophagus COSM1638697 HELLS c.2249-10delT p.? Unknown Biliary_tract COSM1643194 MLL5 c.1476delA p.D495fs*26 Deletion - Frameshift Stomach COSM317253 DNMT1 c.1719G>T p.Q573H Substitution - Missense Lung COSM420316 ATXN7 c.2672G>A p.R891H Substitution - Missense Urinary_tract COSM84157 KMT2D c.2343G>A p.P781P Substitution - coding silent Pancreas COSM1746526 SUV420H1 c.1115A>G p.D372G Substitution - Missense Urinary_tract COSM2270975 TET2 c.4139A>G p.H1380R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4591233 NCOR1 c.534G>C p.K178N Substitution - Missense Upper_aerodigestive_tract COSM5944385 ASXL1 c.2263delG p.D756fs*16 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5892072 ERCC6 c.307G>A p.D103N Substitution - Missense Skin COSM251354 ARID1A c.6545_6564del20 p.A2182fs*36 Deletion - Frameshift Liver COSM5961434 TDRD1 c.122T>C p.L41S Substitution - Missense Adrenal_gland COSM1716612 ATRX c.662G>T p.R221M Substitution - Missense Central_nervous_system COSM1137873 MYST3 c.3938A>G p.D1313G Substitution - Missense Kidney COSM2098602 CHD4 c.1545T>C p.S515S Substitution - coding silent Large_intestine COSM1385957 PHF23 c.335delC p.P112fs*20 Deletion - Frameshift Biliary_tract COSM5034912 PRMT3 c.1287C>T p.I429I Substitution - coding silent Oesophagus COSM3528439 SMARCA4 c.4270C>T p.P1424S Substitution - Missense Skin COSM1309341 BAP1 c.1012C>T p.P338S Substitution - Missense Urinary_tract COSM419721 MECOM c.2710G>A p.E904K Substitution - Missense Urinary_tract COSM5364074 PHF23 c.491T>C p.L164P Substitution - Missense Large_intestine COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5408777 ATAD2 c.1442C>T p.A481V Substitution - Missense Skin COSM5367676 PHF15 c.1814_1815insACC p.P611_Q612insP Insertion - In frame Large_intestine COSM4941937 KDM4B c.2977T>A p.Y993N Substitution - Missense Liver COSM3891425 DNMT1 c.1884C>T p.F628F Substitution - coding silent Skin COSM392111 ATRX c.2095delG p.D699fs*10 Deletion - Frameshift Lung COSM3555667 HDAC10 c.1315G>A p.E439K Substitution - Missense Skin COSM5990554 NCOA3 c.3947-10delT p.? Unknown Liver COSM4162024 KMT2C c.946A>T p.T316S Substitution - Missense Upper_aerodigestive_tract COSM1185009 BTAF1 c.3073A>T p.R1025* Substitution - Nonsense Large_intestine COSM185955 PHC2 c.2168C>T p.S723L Substitution - Missense Pancreas COSM2909158 HDAC4 c.1041A>C p.T347T Substitution - coding silent Large_intestine COSM707532 BPTF c.5576G>T p.R1859M Substitution - Missense Lung COSM1386950 CBX8 c.953G>A p.G318E Substitution - Missense Large_intestine COSM162428 MECOM c.1663G>C p.D555H Substitution - Missense Breast COSM1672542 PHF3 c.4718T>A p.L1573* Substitution - Nonsense Large_intestine COSM4564800 KIAA2026_ENST00000399933 c.1463_1464CC>TT p.P488L Substitution - Missense Skin COSM1296220 ARID1A c.1696C>T p.Q566* Substitution - Nonsense Ovary COSM306845 SETD2 c.5629_5635CCCCCCT>CCCCCCCT p.P1877fs Complex Central_nervous_system COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4564742 NCOA3 c.1379_1380GG>AA p.G460E Substitution - Missense Skin COSM4582089 PRDM15 c.1939C>G p.L647V Substitution - Missense Bone COSM1433320 BRD8 c.2216A>G p.D739G Substitution - Missense Large_intestine COSM1423648 DHX30 c.2707G>A p.V903I Substitution - Missense Large_intestine COSM4444426 BAZ2A c.2276G>A p.R759Q Substitution - Missense Large_intestine COSM5353821 KDM3A c.284delT p.L96fs*1 Deletion - Frameshift Large_intestine COSM5638829 PWWP2B c.157C>T p.P53S Substitution - Missense Oesophagus COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1220341 PHF14 c.1448C>T p.A483V Substitution - Missense Large_intestine COSM228231 EYA2 c.52G>A p.D18N Substitution - Missense Skin COSM5724107 KMT2A c.34C>T p.R12* Substitution - Nonsense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3621310 SHPRH c.337A>G p.K113E Substitution - Missense Skin COSM3467882 RNF17 c.791G>C p.R264P Substitution - Missense Skin COSM5357581 EHMT2 c.173C>T p.S58F Substitution - Missense Large_intestine COSM364205 TDRKH c.1379A>T p.Q460L Substitution - Missense Lung COSM4954760 TRIM66 c.1158G>T p.W386C Substitution - Missense Liver COSM4823681 DNMT1 c.935C>T p.S312F Substitution - Missense Cervix COSM5995401 SETD7 c.981C>T p.A327A Substitution - coding silent Prostate COSM97188 ASXL1 c.? p.A752fs*20 Frameshift Haematopoietic_and_lymphoid_tissue COSM309431 BAG6 c.595C>T p.Q199* Substitution - Nonsense Lung COSM4165203 KDM4A c.1951T>A p.F651I Substitution - Missense Kidney COSM4755257 PHF7 c.995A>C p.D332A Substitution - Missense Stomach COSM166852 TRIM24 c.2728C>T p.R910C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM285940 TRIM33 c.2593C>T p.R865* Substitution - Nonsense Large_intestine COSM4022243 POGZ c.1889A>C p.N630T Substitution - Missense Stomach COSM3390786 ATRX c.4490T>C p.L1497P Substitution - Missense Pancreas COSM4383715 MECOM c.2087C>T p.A696V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM184629 ZCWPW2 c.430G>A p.D144N Substitution - Missense Cervix COSM34192 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM5549154 CDYL2 c.678G>A p.A226A Substitution - coding silent Prostate COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1228036 SUV39H1 c.657C>G p.I219M Substitution - Missense Large_intestine COSM1388317 SMCHD1 c.1354delA p.D454fs*39 Deletion - Frameshift Large_intestine COSM5513949 SUZ12 c.823+5delT p.? Unknown Biliary_tract COSM1295003 SETDB1 c.1675C>T p.P559S Substitution - Missense Urinary_tract COSM2820659 AIRE c.1563C>T p.S521S Substitution - coding silent Large_intestine COSM221609 TET2 c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2160383 SFMBT2 c.2649A>C p.R883S Substitution - Missense Large_intestine COSM3805040 ZMYM4 c.1916C>A p.T639K Substitution - Missense Breast COSM1211742 KDM4B c.2053G>A p.A685T Substitution - Missense Large_intestine COSM3912057 SETD4 c.1010C>T p.P337L Substitution - Missense Skin COSM1083 SMARCB1 c.?_?del? p.?del Deletion - In frame Central_nervous_system COSM226617 KMT2C c.3401G>A p.S1134N Substitution - Missense Skin COSM4433846 UHRF1 c.216C>T p.F72F Substitution - coding silent Oesophagus COSM1027546 NCOA3 c.3786G>A p.Q1262Q Substitution - coding silent Soft_tissue COSM1465246 ZBTB33 c.563_564insTGA p.D194_V195insD Insertion - In frame Upper_aerodigestive_tract COSM4702508 KMT2C c.5082+2T>C p.? Unknown Large_intestine COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1061343 KDM3B c.2340G>A p.P780P Substitution - coding silent Endometrium COSM1978050 PRDM10 c.677G>A p.R226H Substitution - Missense Kidney COSM5607877 ARID2 c.4079G>A p.G1360E Substitution - Missense Skin COSM5656253 CTCF c.1651G>T p.V551F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM328008 IKZF1 c.851-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3151852 CBX7 c.544G>A p.V182I Substitution - Missense Large_intestine COSM237332 EHMT2 c.2011+4A>T p.? Unknown Prostate COSM3362691 MUM1 c.1251G>C p.W417C Substitution - Missense Kidney COSM5781998 RERE c.2060G>T p.S687I Substitution - Missense Breast COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4777770 SETD7 c.1019_1020insC p.G343fs*6 Insertion - Frameshift Prostate COSM133022 ARID1A c.4893_4894insC p.M1634fs*14 Insertion - Frameshift Large_intestine COSM2965355 KDM6A c.1818C>T p.N606N Substitution - coding silent Cervix COSM945773 MPHOSPH8 c.2202A>G p.I734M Substitution - Missense Endometrium COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4428426 GTF3C1 c.3382A>G p.K1128E Substitution - Missense Oesophagus COSM5016208 KMT2C c.1931_1932delAA p.E644fs*2 Deletion - Frameshift Kidney COSM5605870 MBD4 c.1356T>A p.L452L Substitution - coding silent Skin COSM1342109 ZMYM6 c.292delA p.M98fs*49 Deletion - Frameshift Large_intestine COSM4573346 TDRD1 c.1315G>A p.V439M Substitution - Missense Bone COSM5507987 KDM4A c.499A>T p.T167S Substitution - Missense Biliary_tract COSM5699639 PRDM9 c.1073G>T p.G358V Substitution - Missense Soft_tissue COSM4494072 BAZ2A_ENST00000379441 c.4266C>T p.Y1422Y Substitution - coding silent Skin COSM896943 ASH1L c.1477G>T p.E493* Substitution - Nonsense Endometrium COSM4504756 KDM6B c.673C>T p.P225S Substitution - Missense Skin COSM5633764 TTF2 c.1196C>T p.S399L Substitution - Missense Oesophagus COSM100051 PRDM1 c.1_2370del2370 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM3805544 ORC1 c.1107G>T p.Q369H Substitution - Missense Breast COSM5631581 MLL5 c.2563C>T p.P855S Substitution - Missense Oesophagus COSM5171094 ATRX c.7449delT p.P2484fs*>9 Deletion - Frameshift Large_intestine COSM4163285 PHF19 c.407A>C p.D136A Substitution - Missense Upper_aerodigestive_tract COSM3358511 PBRM1 c.2929_2930delAT p.I977fs*4 Deletion - Frameshift Kidney COSM1480177 SIRT7 c.762G>C p.A254A Substitution - coding silent Breast COSM4746294 SMYD2 c.901G>A p.V301I Substitution - Missense Central_nervous_system COSM4014450 ERCC6 c.1917C>T p.D639D Substitution - coding silent Stomach COSM1471129 SMCHD1 c.2772T>G p.S924R Substitution - Missense Prostate COSM42049 TET2 c.4151A>T p.D1384V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM4835429 BRD8 c.96G>T p.M32I Substitution - Missense Cervix COSM3751837 ERCC6 c.3289A>G p.M1097V Substitution - Missense Soft_tissue COSM3796348 AP001011.3_ENST00000320876 c.4070T>C p.I1357T Substitution - Missense Urinary_tract COSM3675546 KMT2C c.1099C>G p.H367D Substitution - Missense Breast COSM991725 MUM1 c.1926C>G p.A642A Substitution - coding silent Endometrium COSM4956655 ING5 c.270C>T p.Y90Y Substitution - coding silent Liver COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5438832 TDRD6 c.3290G>T p.R1097I Substitution - Missense Oesophagus COSM752350 TDRD7 c.709G>A p.V237I Substitution - Missense Lung COSM1659925 NSD1 c.111C>A p.S37S Substitution - coding silent Kidney COSM5597091 KMT2A c.1432C>T p.R478* Substitution - Nonsense Skin COSM4801901 PHC1 c.2567G>T p.R856L Substitution - Missense Liver COSM693123 KDM5A c.2775G>C p.L925L Substitution - coding silent Lung COSM1099897 MYST3 c.5433G>A p.T1811T Substitution - coding silent Endometrium COSM255097 MEN1 c.272_275delCCCG p.R92fs*26 Deletion - Frameshift Parathyroid COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Urinary_tract COSM96448 CREBBP c.? p.P858S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5986187 SETD2 c.1136C>G p.S379C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5778747 CHD9 c.7836A>T p.E2612D Substitution - Missense Breast COSM1034199 CBX6 c.1083G>T p.E361D Substitution - Missense Endometrium COSM4705978 NCOA7 c.727A>G p.T243A Substitution - Missense Large_intestine COSM1600617 TTF2 c.2522A>G p.Q841R Substitution - Missense Liver COSM4974119 PHF17 c.729C>T p.G243G Substitution - coding silent Oesophagus COSM3711477 CHD8 c.6536G>T p.S2179I Substitution - Missense Upper_aerodigestive_tract COSM3807286 ERCC6 c.720C>T p.I240I Substitution - coding silent Breast COSM4846960 TDRD5 c.885C>G p.I295M Substitution - Missense Cervix COSM1643316 STK31 c.1457_1459delAAG p.E487delE Deletion - In frame Stomach COSM4742929 ZMYM4 c.4112T>C p.L1371P Substitution - Missense Large_intestine COSM41705 TET2 c.3593G>A p.W1198* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5005923 C5orf35 c.155T>C p.V52A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3144783 L3MBTL4 c.636G>A p.A212A Substitution - coding silent Large_intestine COSM729706 FXR1 c.864T>A p.V288V Substitution - coding silent Lung COSM4805580 MECOM c.1948G>C p.D650H Substitution - Missense Liver COSM110704 ASXL1 c.2822_2822delC p.P941fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1717558 KDM6A c.1556G>C p.R519P Substitution - Missense Ovary COSM3365444 TET2 c.4168A>C p.N1390H Substitution - Missense Kidney COSM121826 SETD5_ENST00000402198 c.3726G>A p.L1242L Substitution - coding silent Upper_aerodigestive_tract COSM3725138 PRDM2 c.4831C>T p.L1611L Substitution - coding silent Lung COSM5600613 TAF1L c.1792G>A p.G598S Substitution - Missense Skin COSM352596 CREBBP c.4648G>C p.E1550Q Substitution - Missense Skin COSM1381228 RAI1 c.269G>C p.G90A Substitution - Missense Liver COSM4575440 KMT2D c.13683G>A p.K4561K Substitution - coding silent Bone COSM5352889 PRDM2 c.2961T>C p.P987P Substitution - coding silent Large_intestine COSM1290463 CHD2 c.3214C>T p.R1072* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM707230 ZBTB4 c.3015G>A p.E1005E Substitution - coding silent Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4759198 TRRAP c.2144A>T p.K715M Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5377602 POGZ c.2075C>T p.A692V Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4331132 ING2 c.173-1G>A p.? Unknown Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1583110 DNMT3A c.2193_2194insT p.E733fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM140483 CLOCK c.2342C>A p.P781Q Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4961018 KMT2D c.10313G>A p.S3438N Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4787851 MEN1 c.476T>C p.F159S Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5885654 SMARCC1 c.2562G>C p.K854N Substitution - Missense Urinary_tract COSM5563822 MYST3 c.1665G>A p.Q555Q Substitution - coding silent Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5664031 BAZ2A c.2063G>T p.R688L Substitution - Missense Soft_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM36204 ASXL1 c.3965C>G p.P1322R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4827657 SFMBT1 c.2284C>T p.R762C Substitution - Missense Cervix COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4918711 PRDM1 c.588C>T p.S196S Substitution - coding silent Liver COSM5791018 NCOA2 c.2479C>G p.P827A Substitution - Missense Breast COSM4798577 KMT2C c.1332G>A p.R444R Substitution - coding silent Liver COSM2788385 ELP3 c.511G>A p.G171S Substitution - Missense Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5774263 AP001011.3_ENST00000320876 c.3126C>G p.F1042L Substitution - Missense Breast COSM1026852 CHD6 c.5431G>A p.A1811T Substitution - Missense Endometrium COSM4808384 ZMYM3 c.2863C>T p.L955F Substitution - Missense Pancreas COSM5918708 NIPBL c.3104C>T p.P1035L Substitution - Missense Skin COSM5575859 KDM6A c.2156A>C p.K719T Substitution - Missense Stomach COSM3919994 NIPBL c.3433C>T p.R1145C Substitution - Missense Skin COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM254824 KMT2C c.12221G>T p.G4074V Substitution - Missense Urinary_tract COSM480367 PBRM1 c.2128C>T p.R710* Substitution - Nonsense Kidney COSM3724493 DNMT3A c.? p.G890S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4725137 SETD1A c.1157G>A p.R386Q Substitution - Missense Large_intestine COSM3950032 JHDM1D c.697A>T p.T233S Substitution - Missense Lung COSM5007727 IDH1 c.629G>C p.S210T Substitution - Missense Large_intestine COSM391248 CHD2 c.3724_3725insA p.Y1246fs*13 Insertion - Frameshift Pancreas COSM1965087 KAT6B c.1238T>C p.I413T Substitution - Missense Upper_aerodigestive_tract COSM1207672 FXR1 c.1513C>T p.R505W Substitution - Missense Large_intestine COSM1444084 BRPF3 c.2774G>A p.R925H Substitution - Missense Large_intestine COSM85988 ATRX c.6884_6885insT p.N2296fs*26 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1469607 BRWD3 c.638G>A p.R213H Substitution - Missense Large_intestine COSM5364486 MBTD1 c.1219G>T p.G407C Substitution - Missense Large_intestine COSM693668 KMT2D c.3343C>T p.R1115W Substitution - Missense Lung COSM3660908 SMARCA5 c.3062C>T p.A1021V Substitution - Missense Liver COSM4795036 CHD9 c.7893G>A p.R2631R Substitution - coding silent Liver COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13837 ATRX c.2719C>T p.R907* Substitution - Nonsense Lung COSM32911 LMNB2 c.646C>T p.R216W Substitution - Missense Large_intestine COSM43465 TET2 c.1825_1825delT p.S609fs*30 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM52980 EZH2 c.2069G>A p.R690H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM110712 ASXL1 c.2541_2541delC p.T848fs*19 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM96400 ASXL1 c.1774C>T p.Q592* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM131488 ARID2 c.1177G>T p.E393* Substitution - Nonsense Lung COSM130177 VPS72 c.788G>A p.R263H Substitution - Missense Upper_aerodigestive_tract COSM140262 PHF20 c.1160C>T p.S387F Substitution - Missense Skin COSM224344 MYST3 c.2356G>A p.V786I Substitution - Missense Skin COSM238471 ZGPAT c.1296C>T p.A432A Substitution - coding silent Skin COSM254628 CREBBP c.1063C>T p.Q355* Substitution - Nonsense Urinary_tract COSM280909 EYA1 c.1092A>G p.E364E Substitution - coding silent Large_intestine COSM272537 CREBBP c.2516A>G p.Q839R Substitution - Missense Large_intestine COSM309526 BRDT c.115G>T p.V39F Substitution - Missense Lung COSM310077 CHD3 c.3097T>C p.Y1033H Substitution - Missense Soft_tissue COSM318350 EP300 c.3270T>A p.F1090L Substitution - Missense Lung COSM307184 BAP1 c.436_436A>CG p.P147fs*8 Complex - frameshift Pleura COSM326734 TP53BP1 c.3607G>T p.G1203C Substitution - Missense Lung COSM369778 ERCC6 c.745G>A p.G249S Substitution - Missense Lung COSM397313 BRD9 c.1345C>T p.R449W Substitution - Missense Lung COSM403772 DIDO1 c.4732C>T p.L1578F Substitution - Missense Lung COSM422745 PBRM1 c.172C>T p.R58* Substitution - Nonsense Kidney COSM423034 BAP1 c.1256delA p.K419fs*11 Deletion - Frameshift Kidney COSM452712 KMT2C c.5079_5080insT p.V1694fs*7 Insertion - Frameshift Breast COSM478240 ZMYND8 c.2992A>G p.K998E Substitution - Missense Kidney COSM988851 MBD1 c.49C>T p.R17C Substitution - Missense Endometrium COSM720295 SP140 c.113G>T p.C38F Substitution - Missense Lung COSM928935 GLYATL1 c.913C>T p.R305C Substitution - Missense Large_intestine COSM1008160 BAZ2B c.2237G>A p.R746H Substitution - Missense Endometrium COSM1039208 ZBTB38 c.3198C>T p.F1066F Substitution - coding silent Endometrium COSM1061233 BRD8 c.3078A>G p.S1026S Substitution - coding silent Endometrium COSM1124917 TAF1 c.5100G>T p.E1700D Substitution - Missense Endometrium COSM1125418 ATRX c.5407C>T p.R1803C Substitution - Missense Small_intestine COSM1131918 EHMT2 c.50C>A p.A17D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1086201 JHDM1D c.2331T>C p.H777H Substitution - coding silent Endometrium COSM1085180 SND1 c.852_858delCACAGAG p.T285fs*3 Deletion - Frameshift Endometrium COSM1242007 ARID1A c.3211delA p.K1072fs*21 Deletion - Frameshift Large_intestine COSM1246243 BRPF3 c.2634A>C p.E878D Substitution - Missense Stomach COSM1230647 TRRAP c.8387T>C p.F2796S Substitution - Missense Large_intestine COSM1238284 BAZ2A c.4526G>T p.R1509M Substitution - Missense Oesophagus COSM1245557 ASH1L c.969A>T p.K323N Substitution - Missense Oesophagus COSM1169586 PBRM1 c.1248_1248delA p.K416fs*22 Deletion - Frameshift Kidney COSM1215636 MTA1 c.2143G>T p.D715Y Substitution - Missense Large_intestine COSM1179496 KAT2A c.531G>T p.V177V Substitution - coding silent Prostate COSM1311738 JARID2 c.1250C>T p.S417L Substitution - Missense Urinary_tract COSM1296343 ZMYM4 c.4618G>C p.E1540Q Substitution - Missense Urinary_tract COSM1304966 KDM4B c.2204C>G p.S735C Substitution - Missense Urinary_tract COSM1298394 MEN1 c.387C>T p.L129L Substitution - coding silent Urinary_tract COSM1322224 KDM2A c.3208G>A p.D1070N Substitution - Missense Ovary COSM1388299 AP001011.3_ENST00000320876 c.2656C>T p.R886* Substitution - Nonsense Large_intestine COSM1388388 SMCHD1 c.2973C>T p.G991G Substitution - coding silent Large_intestine COSM1388501 ASXL3 c.1921T>C p.L641L Substitution - coding silent Large_intestine COSM1413181 ZGPAT c.218G>A p.R73H Substitution - Missense Large_intestine COSM1454650 ATAD2 c.1590delT p.F530fs*27 Deletion - Frameshift Skin COSM1362039 KMT2D c.4968T>C p.L1656L Substitution - coding silent Large_intestine COSM1492066 ORC1 c.2161C>T p.R721W Substitution - Missense Kidney COSM1489898 SMARCA2 c.1167G>T p.Q389H Substitution - Missense Breast COSM1611234 SETBP1 c.486+6A>G p.? Unknown Liver COSM1611970 DOT1L c.4622C>T p.A1541V Substitution - Missense Liver COSM1619530 KDM3B c.1553A>G p.D518G Substitution - Missense Liver COSM1636931 SETD2 c.3265C>T p.R1089* Substitution - Nonsense Liver COSM1643029 DAXX c.1820T>C p.M607T Substitution - Missense Stomach COSM1670853 WHSC1 c.2564C>A p.P855H Substitution - Missense Large_intestine COSM1679534 KDM6B c.2446T>G p.Y816D Substitution - Missense Large_intestine COSM1713480 CHD6 c.508A>G p.R170G Substitution - Missense Skin COSM1720667 TDRD3 c.1470C>T p.F490F Substitution - coding silent Skin COSM1662336 JMJD1C c.1060G>C p.D354H Substitution - Missense Kidney COSM1723860 BAG6 c.2222_2223CC>TT p.A741V Substitution - Missense Skin COSM2156506 ZMYM3 c.2532C>A p.V844V Substitution - coding silent Central_nervous_system COSM2209484 PYGO2 c.326delG p.G109fs*52 Deletion - Frameshift Large_intestine COSM2199984 SETD3 c.937delT p.Y313fs*10 Deletion - Frameshift Large_intestine COSM2966524 SUV39H1 c.135C>T p.V45V Substitution - coding silent Large_intestine COSM3358410 KDM5C c.4242_4252del11 p.D1414fs*54 Deletion - Frameshift Kidney COSM3396755 EHMT1 c.2656G>A p.G886S Substitution - Missense Prostate COSM3508910 SRCAP c.5961C>T p.P1987P Substitution - coding silent Skin COSM3457177 KDM2B c.1841C>T p.S614L Substitution - Missense Skin COSM3447099 RAG2 c.288G>A p.G96G Substitution - coding silent Skin COSM3622177 JARID2 c.1778C>T p.P593L Substitution - Missense Skin COSM3636519 KMT2C c.3646G>A p.V1216I Substitution - Missense Skin COSM3579854 ATAD2B_ENST00000238789 c.434C>T p.P145L Substitution - Missense Skin COSM3559616 HCFC1 c.5396C>T p.A1799V Substitution - Missense Skin COSM3514738 RAI1 c.1605C>T p.A535A Substitution - coding silent Skin COSM3525876 SETBP1 c.4171+1G>A p.? Unknown Skin COSM3644822 ATAD2 c.4003-1G>A p.? Unknown Skin COSM3659908 SMEK2 c.679G>A p.E227K Substitution - Missense Liver COSM3669794 TRRAP c.1136T>A p.L379Q Substitution - Missense Liver COSM3741053 LBR c.996G>A p.A332A Substitution - coding silent Large_intestine COSM3769092 BMI1 c.858T>C p.F286F Substitution - coding silent Pancreas COSM3811920 KDM5A c.5138T>C p.L1713P Substitution - Missense Breast COSM3842806 TCF20 c.5502T>G p.G1834G Substitution - coding silent Breast COSM3831526 MLL5 c.1609G>A p.V537I Substitution - Missense Breast COSM3823573 KAT2B c.410G>A p.R137Q Substitution - Missense Breast COSM3915316 MECOM c.1679G>A p.R560Q Substitution - Missense Skin COSM3902427 TDRD7 c.2991C>T p.H997H Substitution - coding silent Stomach COSM3976627 TDRD5 c.2153G>T p.R718L Substitution - Missense Lung COSM4007303 PHF2 c.309C>T p.D103D Substitution - coding silent Urinary_tract COSM3986973 KMT2D c.6508G>A p.V2170I Substitution - Missense Large_intestine COSM3987079 BAZ2A c.1406C>T p.T469I Substitution - Missense Kidney COSM3995373 TRIM24 c.141G>A p.A47A Substitution - coding silent Kidney COSM3983777 GATAD2B c.1610C>T p.P537L Substitution - Missense Thyroid COSM4121123 TET2 c.1177T>G p.S393A Substitution - Missense Stomach COSM4128898 CCDC101 c.867A>G p.E289E Substitution - coding silent Bone COSM4134596 NCOA5 c.1258A>T p.T420S Substitution - Missense Thyroid COSM4149085 HDAC6 c.1637G>C p.G546A Substitution - Missense Ovary COSM4164958 TCF20 c.2722G>T p.V908F Substitution - Missense Kidney COSM4205139 EP400 c.1805C>T p.P602L Substitution - Missense Large_intestine COSM4382827 CHD1 c.1097C>T p.A366V Substitution - Missense Large_intestine COSM4383849 TET2 c.2352delT p.H786fs*27 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41598 ASXL1 c.1210C>T p.R404* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4403248 PCGF2 c.25A>C p.I9L Substitution - Missense Skin COSM4402337 PHRF1 c.2307C>T p.V769V Substitution - coding silent Skin COSM4604065 KMT2C c.11133C>T p.T3711T Substitution - coding silent Upper_aerodigestive_tract COSM4445217 CHD7 c.2920G>T p.E974* Substitution - Nonsense Large_intestine COSM4438872 MYST3 c.5392C>T p.H1798Y Substitution - Missense Oesophagus COSM4514083 SMYD3 c.784C>T p.P262S Substitution - Missense Skin COSM4770177 PBRM1 c.4576+5_4576+6insGAG p.? Unknown Soft_tissue COSM4681094 EP300 c.5810A>G p.E1937G Substitution - Missense Large_intestine COSM4731984 TAF1L c.2765A>G p.Y922C Substitution - Missense Large_intestine COSM4694953 KDM4A c.1475C>T p.P492L Substitution - Missense Large_intestine COSM4728609 SMYD2 c.839G>A p.R280Q Substitution - Missense Large_intestine COSM4776416 EP300 c.6630_6643del14 p.F2211fs*86 Deletion - Frameshift Soft_tissue COSM4752304 EPC1 c.2290G>A p.A764T Substitution - Missense Stomach COSM4923810 CHD9 c.5860A>T p.N1954Y Substitution - Missense Liver COSM4928762 PHIP c.2770-1G>T p.? Unknown Liver COSM4835028 BRDT c.2447C>T p.S816L Substitution - Missense Cervix COSM4878496 UHRF1 c.318C>T p.T106T Substitution - coding silent Prostate COSM4965220 ATF7IP c.3331C>A p.L1111I Substitution - Missense Pancreas COSM4962923 SMARCC1 c.1264-4A>G p.? Unknown Pancreas COSM4968114 HCFC1 c.910C>A p.P304T Substitution - Missense Adrenal_gland COSM4991713 DNMT3A c.2420C>T p.S807F Substitution - Missense Skin COSM4992932 KMT2C c.7913C>T p.S2638F Substitution - Missense Skin COSM4988941 TRRAP c.2861A>G p.N954S Substitution - Missense Soft_tissue COSM5017632 SMYD4 c.271T>C p.Y91H Substitution - Missense Soft_tissue COSM5013752 SMC1A c.2645C>A p.S882* Substitution - Nonsense Kidney COSM5078914 ZMYM1 c.2656_2657insT p.S888fs*16 Insertion - Frameshift Large_intestine COSM5054883 CREBBP c.4424C>G p.P1475R Substitution - Missense Stomach COSM5404342 L3MBTL3 c.104T>C p.F35S Substitution - Missense Skin COSM5355397 DHX30 c.1358T>C p.V453A Substitution - Missense Large_intestine COSM5484414 PRDM15 c.2464+9G>A p.? Unknown Large_intestine COSM5448002 PWWP2B c.1611G>A p.S537S Substitution - coding silent Large_intestine COSM5608299 DOT1L c.2880C>T p.A960A Substitution - coding silent Skin COSM5606486 DOT1L c.3889C>T p.P1297S Substitution - Missense Skin COSM5606738 KMT2D c.5238C>A p.S1746S Substitution - coding silent Skin COSM5671016 KDM2B c.1115G>A p.R372H Substitution - Missense Soft_tissue COSM5753139 SETD5_ENST00000402198 c.330G>A p.R110R Substitution - coding silent Pancreas COSM5752330 KMT2D c.13520_13526delGCAAAGG p.G4507fs*18 Deletion - Frameshift Breast COSM5710458 KMT2C c.14465G>A p.R4822H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5553241 KIAA2026_ENST00000399933 c.909A>C p.E303D Substitution - Missense Prostate COSM5557431 LMNA c.1989C>A p.I663I Substitution - coding silent Prostate COSM5547101 BAZ2A_ENST00000379441 c.934_948del15 p.G312_G316delGGLYG Deletion - In frame Prostate COSM5556360 PHF3 c.5783A>G p.H1928R Substitution - Missense Prostate COSM5559051 TRRAP c.7199T>C p.L2400S Substitution - Missense Prostate COSM5772222 RAG2 c.767T>A p.I256N Substitution - Missense Breast COSM5785673 CTCF c.1160C>T p.A387V Substitution - Missense Breast COSM5795102 NSD1 c.2362C>G p.R788G Substitution - Missense Breast COSM5879043 TET2 c.5209delA p.T1737fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5808756 PHF3 c.4699G>T p.V1567F Substitution - Missense Liver COSM5804939 PYGO2 c.711G>C p.L237L Substitution - coding silent Liver COSM5811704 CAMKMT c.554G>T p.R185I Substitution - Missense Liver COSM5881491 TTF2 c.2751_2752insTCCCAGT p.L920fs*28 Insertion - Frameshift Large_intestine COSM6006425 SMARCB1 c.585_586ins43 p.D196fs*29 Insertion - Frameshift Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1737977 BAP1 c.? p.H274S Substitution - Missense Eye COSM43117 TET2 c.1_6009del6009 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM2874834 EYA1 c.1310G>A p.R437H Substitution - Missense Large_intestine COSM1416506 L3MBTL2 c.2113G>A p.D705N Substitution - Missense Large_intestine COSM4651284 RAI1 c.1897G>A p.V633I Substitution - Missense Large_intestine COSM5800678 AP001011.3_ENST00000320876 c.4885G>T p.E1629* Substitution - Nonsense Breast COSM1664530 TET2 c.4214A>T p.E1405V Substitution - Missense Kidney COSM3982580 NCOA2 c.3846G>C p.M1282I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3738044 NCOA3 c.3488G>A p.R1163Q Substitution - Missense Soft_tissue COSM4108016 MECP2 c.1222T>C p.L408L Substitution - coding silent Stomach COSM1442422 KDM1B c.682G>T p.G228C Substitution - Missense Large_intestine COSM3790302 RERE c.528G>C p.K176N Substitution - Missense Urinary_tract COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM722951 SMYD1 c.895C>G p.Q299E Substitution - Missense Lung COSM1108 SMARCB1 c.? p.? Unknown Central_nervous_system COSM3615187 PRDM9 c.168G>A p.R56R Substitution - coding silent Skin COSM3698037 KMT2C c.1744G>A p.V582I Substitution - Missense Large_intestine COSM5462071 KDM2A c.594-2A>G p.? Unknown Large_intestine COSM457093 MECP2 c.253C>T p.R85C Substitution - Missense Endometrium COSM51888 ARID1A c.6266T>C p.L2089P Substitution - Missense Kidney COSM695860 ZMYM5 c.106G>T p.G36C Substitution - Missense Lung COSM52844 PBRM1 c.1569G>T p.M523I Substitution - Missense Breast COSM4388880 BAZ2B c.6217C>G p.L2073V Substitution - Missense Pancreas COSM3692169 L3MBTL4 c.1423G>C p.D475H Substitution - Missense Large_intestine COSM4983192 KMT2C c.12595T>C p.C4199R Substitution - Missense Oesophagus COSM5008575 NCOA6 c.2432A>G p.D811G Substitution - Missense Large_intestine COSM426378 RAD54L c.1325T>C p.M442T Substitution - Missense Breast COSM3458230 EP400 c.2986A>T p.I996F Substitution - Missense Skin COSM1684723 SETBP1 c.? p.I871S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM416974 FTO c.779C>T p.S260F Substitution - Missense Urinary_tract COSM1201022 CHD9 c.1115G>A p.G372D Substitution - Missense Large_intestine COSM1464305 TDRD7 c.719G>A p.R240H Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM230770 ASXL3 c.77G>A p.W26* Substitution - Nonsense Skin COSM4591407 DIDO1 c.4872G>C p.K1624N Substitution - Missense Upper_aerodigestive_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM4728281 SMARCA2 c.3864C>T p.D1288D Substitution - coding silent Large_intestine COSM4099081 ZMYND8 c.1442C>T p.A481V Substitution - Missense Stomach COSM5999173 TDRD1 c.3071A>G p.Y1024C Substitution - Missense Prostate COSM1083692 MLL5 c.4768C>G p.L1590V Substitution - Missense Endometrium COSM5884698 ASH2L c.1348C>T p.P450S Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM999377 PRMT1 c.858G>A p.T286T Substitution - coding silent Endometrium COSM3656076 EHMT1 c.568C>T p.P190S Substitution - Missense Skin COSM30454 SMYD4 c.1134C>T p.D378D Substitution - coding silent Kidney COSM907736 ARID1A c.5197G>T p.E1733* Substitution - Nonsense Endometrium COSM3519933 AKAP1 c.981T>G p.N327K Substitution - Missense Skin COSM42028 TET2 c.3640C>T p.R1214W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5713847 GLYR1 c.733-5C>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM323726 TAF1L c.2887G>T p.G963C Substitution - Missense Lung COSM4689743 HDGFL1 c.542_543insGGC p.A188_T189insA Insertion - In frame Large_intestine COSM4023184 LMNA c.1412G>A p.R471H Substitution - Missense Stomach COSM1241006 CHD8 c.6130C>T p.R2044* Substitution - Nonsense Large_intestine COSM4459679 KMT2D c.10552C>T p.Q3518* Substitution - Nonsense Skin COSM1748363 PHC2 c.6G>C p.E2D Substitution - Missense Urinary_tract COSM1165876 TDRKH c.24G>T p.W8C Substitution - Missense Large_intestine COSM212759 MORF4L2 c.707G>T p.G236V Substitution - Missense Breast COSM908613 ZMYM6 c.2210G>T p.R737I Substitution - Missense Endometrium COSM1483713 NCOA3 c.3741_3749delGCAGCAGCA p.Q1274_Q1276delQQQ Deletion - In frame Upper_aerodigestive_tract COSM1221887 PRDM2 c.831T>A p.D277E Substitution - Missense Soft_tissue COSM4749523 APOBEC1 c.374A>G p.Q125R Substitution - Missense Stomach COSM1362037 KMT2D c.5008C>A p.P1670T Substitution - Missense Large_intestine COSM3841022 CHD6 c.1159A>G p.K387E Substitution - Missense Breast COSM4031531 PRDM16 c.1578G>A p.P526P Substitution - coding silent Stomach COSM3531586 DOT1L c.2495C>T p.P832L Substitution - Missense Skin COSM3874622 CDYL c.1259G>T p.S420I Substitution - Missense Stomach COSM1757060 KDM3A c.1205G>A p.R402K Substitution - Missense Urinary_tract COSM5611425 BAP1 c.504_510delCCACTTT p.F168fs*17 Deletion - Frameshift Pleura COSM2861118 JHDM1D c.2687G>T p.R896I Substitution - Missense Skin COSM359550 BAZ2B c.2934C>A p.A978A Substitution - coding silent Lung COSM747168 BAZ1B c.576C>T p.D192D Substitution - coding silent Lung COSM6006889 SETD5_ENST00000402198 c.1543G>A p.V515I Substitution - Missense Prostate COSM1716604 ATRX c.496delC p.H166fs*4 Deletion - Frameshift Central_nervous_system COSM954574 PRMT5 c.614-1G>T p.? Unknown Endometrium COSM739334 NCOA7 c.157G>C p.D53H Substitution - Missense Stomach COSM3555547 BRD1 c.756C>T p.P252P Substitution - coding silent Skin COSM3447392 PRDM11 c.639C>T p.T213T Substitution - coding silent Skin COSM4188738 GABRG1 c.995C>T p.A332V Substitution - Missense Kidney COSM5001374 NCOA1 c.3524C>A p.T1175K Substitution - Missense Pancreas COSM4574924 ACTR6 c.807T>C p.R269R Substitution - coding silent Bone COSM24913 HNF1A c.526+1_526+13delGTAAGTAATGACC p.? Unknown Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1638575 ERCC6 c.2145_2146insG p.Y716fs*44 Insertion - Frameshift Stomach COSM4764792 SP100 c.1922G>A p.R641K Substitution - Missense Stomach COSM5611907 MYST2 c.1305T>A p.Y435* Substitution - Nonsense Adrenal_gland COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2061642 KDM4D c.895C>T p.R299* Substitution - Nonsense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5554619 HDAC5 c.34G>C p.G12R Substitution - Missense Prostate COSM5363737 CREBBP c.556C>T p.P186S Substitution - Missense Large_intestine COSM5754600 ARID4A c.295C>T p.R99* Substitution - Nonsense Large_intestine COSM1742215 MYST2 c.1526G>A p.R509H Substitution - Missense Urinary_tract COSM5050403 BTAF1 c.2656delA p.E888fs*5 Deletion - Frameshift Stomach COSM240698 KMT2C c.5227_5228insG p.E1744fs*5 Insertion - Frameshift Prostate COSM3995651 ACTB c.178A>G p.S60G Substitution - Missense Kidney COSM970045 SETD1A c.2035T>C p.S679P Substitution - Missense Endometrium COSM4702398 KMT2A c.7581delA p.M2529fs*11 Deletion - Frameshift Large_intestine COSM1603621 JMJD1C c.5571_5572insCAATG p.G1858fs*20 Insertion - Frameshift Liver COSM4731998 TAF3 c.661A>G p.T221A Substitution - Missense Large_intestine COSM4991281 DOT1L c.933C>T p.S311S Substitution - coding silent Skin COSM1605324 TRIM66 c.940G>A p.A314T Substitution - Missense Liver COSM3204089 PHC3 c.1346C>G p.P449R Substitution - Missense Pancreas COSM5819163 SFMBT2 c.2523G>T p.L841F Substitution - Missense Liver COSM6012358 PHF3 c.4890C>T p.S1630S Substitution - coding silent Skin COSM133734 DNMT3A c.2191T>C p.F731L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1333447 PRDM2 c.834A>T p.E278D Substitution - Missense Large_intestine COSM309433 BAG6 c.588G>T p.P196P Substitution - coding silent Soft_tissue COSM1018657 ATAD2B_ENST00000238789 c.1861G>A p.A621T Substitution - Missense Large_intestine COSM3185375 CAMKMT c.297C>A p.Y99* Substitution - Nonsense Central_nervous_system COSM2078148 RBBP4 c.164G>T p.R55I Substitution - Missense Large_intestine COSM334023 GTF3C1 c.3625G>T p.V1209L Substitution - Missense Lung COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3453562 RSF1 c.483C>A p.L161L Substitution - coding silent Skin COSM2723751 ZBTB33 c.12A>C p.R4S Substitution - Missense Large_intestine COSM5574215 NCOR1 c.6302_6303insA p.Y2101fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1169216 IDH1 c.394_395CG>TC p.R132S Substitution - Missense Central_nervous_system COSM3363314 PCNA c.462T>G p.I154M Substitution - Missense Kidney COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4651457 HDAC4 c.2094C>T p.C698C Substitution - coding silent Large_intestine COSM4888672 ASH1L c.5961G>A p.K1987K Substitution - coding silent Upper_aerodigestive_tract COSM5790666 ACTB c.213C>G p.I71M Substitution - Missense Breast COSM1373030 TP53BP1 c.163G>T p.E55* Substitution - Nonsense Large_intestine COSM3850173 PHF15 c.734C>T p.T245M Substitution - Missense Stomach COSM1251048 EHMT1 c.1649G>A p.R550H Substitution - Missense Stomach COSM3559634 HCFC1 c.2272C>T p.R758C Substitution - Missense Skin COSM5442775 JMJD1C c.2294C>T p.S765L Substitution - Missense Oesophagus COSM5703045 ERCC6 c.4417C>A p.L1473M Substitution - Missense Autonomic_ganglia COSM1067721 NIPBL c.7208G>A p.R2403H Substitution - Missense Endometrium COSM1209172 GTF3C1 c.2197G>T p.G733W Substitution - Missense Large_intestine COSM4039470 KDM2B c.2288G>A p.R763Q Substitution - Missense Stomach COSM1668244 TDRD5 c.1484C>T p.S495L Substitution - Missense Large_intestine COSM5778396 DOT1L c.861C>G p.I287M Substitution - Missense Breast COSM5630306 BPTF c.4484G>T p.G1495V Substitution - Missense Oesophagus COSM1334447 TDRD10 c.741C>T p.R247R Substitution - coding silent Biliary_tract COSM1007218 MBD5 c.1231A>G p.T411A Substitution - Missense Endometrium COSM5552827 KAT6B c.4236G>C p.E1412D Substitution - Missense Prostate COSM1587016 ZMYM2 c.3583C>T p.R1195* Substitution - Nonsense Endometrium COSM1633400 TET2 c.466C>T p.Q156* Substitution - Nonsense Liver COSM2153799 ING5 c.184G>A p.V62M Substitution - Missense Central_nervous_system COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3524732 AP001011.3_ENST00000320876 c.1413T>C p.I471I Substitution - coding silent Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3707006 SRCAP c.7858C>T p.Q2620* Substitution - Nonsense Liver COSM1283688 BTAF1 c.4493C>T p.P1498L Substitution - Missense Autonomic_ganglia COSM4821322 EP400 c.169C>T p.Q57* Substitution - Nonsense Cervix COSM3747771 PHF2 c.2990G>C p.S997T Substitution - Missense Liver COSM99736 KDM6A c.1324C>T p.Q442* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM303824 TBL1XR1 c.632_633ins14 p.R212fs*25 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3733336 KMT2C c.2263C>T p.Q755* Substitution - Nonsense Oesophagus COSM1689319 TDRD5 c.2849G>A p.R950Q Substitution - Missense Skin COSM281641 HDAC9 c.2113T>C p.Y705H Substitution - Missense Large_intestine COSM707751 KDM6B c.2776G>A p.E926K Substitution - Missense Lung COSM3642810 TRRAP c.7233C>A p.T2411T Substitution - coding silent Skin COSM5574966 SETD7 c.143G>A p.R48Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1685867 NCOA1 c.3715C>T p.P1239S Substitution - Missense Skin COSM4134752 DIDO1 c.2669C>G p.S890C Substitution - Missense Thyroid COSM4805223 HDAC4 c.2929G>T p.D977Y Substitution - Missense Liver COSM4956258 RAG2 c.901G>A p.E301K Substitution - Missense Liver COSM5975592 NIPBL c.1172C>T p.P391L Substitution - Missense Upper_aerodigestive_tract COSM1583131 DNMT3A c.2602T>G p.F868V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5468990 ZMYND8 c.2878+10G>A p.? Unknown Large_intestine COSM4686499 GATAD2A c.1263C>T p.T421T Substitution - coding silent Large_intestine COSM4954551 KMT2D c.13336G>T p.G4446W Substitution - Missense Liver COSM4596964 TRIM66 c.601G>T p.V201L Substitution - Missense Upper_aerodigestive_tract COSM1027975 ADNP c.916C>T p.R306* Substitution - Nonsense Cervix COSM3947911 HDAC2 c.1252G>A p.D418N Substitution - Missense Lung COSM985377 KDM6B c.752_753insACCACC p.P264_L265insPP Insertion - In frame Thyroid COSM1408711 SMEK2 c.165G>A p.K55K Substitution - coding silent Large_intestine COSM5634599 TDRD6 c.396G>A p.A132A Substitution - coding silent Oesophagus COSM1312575 PHF14 c.1730G>A p.R577H Substitution - Missense Biliary_tract COSM1061241 BRD8 c.2068A>G p.S690G Substitution - Missense Endometrium COSM908615 ZMYM6 c.1990G>T p.D664Y Substitution - Missense Endometrium COSM5232762 ARID1A c.1844delC p.S617fs*2 Deletion - Frameshift Breast COSM4949944 ARID1A c.1653C>G p.Y551* Substitution - Nonsense Liver COSM4705948 NCOA3 c.615T>C p.H205H Substitution - coding silent Large_intestine COSM5385779 SMYD4 c.2100G>A p.E700E Substitution - coding silent Skin COSM1638389 IDH2 c.514A>C p.R172R Substitution - coding silent Bone COSM316706 ZMYND8 c.679T>A p.Y227N Substitution - Missense Lung COSM1740894 CHD2 c.2888_2893delTTAATA p.F963_K965>* Complex - deletion inframe Haematopoietic_and_lymphoid_tissue COSM1705802 SMARCC2 c.1339C>T p.P447S Substitution - Missense Skin COSM478009 DNMT3B c.1491G>T p.R497R Substitution - coding silent Kidney COSM1054435 WHSC1 c.1922A>G p.Y641C Substitution - Missense Endometrium COSM100069 TET2 c.2271_2277delCCAGACT p.Q758fs*53 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1607486 CHD8 c.415T>G p.S139A Substitution - Missense Liver COSM1067065 PRDM9 c.415T>G p.L139V Substitution - Missense Endometrium COSM5886851 SMEK1 c.1414C>T p.L472F Substitution - Missense Skin COSM1357982 KDM4D c.271delA p.K93fs*4 Deletion - Frameshift Large_intestine COSM5883507 KDM3A c.3040A>T p.I1014F Substitution - Missense Skin COSM87002 DNMT3A c.1627G>T p.G543C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4659111 ACTL6A c.934T>C p.S312P Substitution - Missense Large_intestine COSM1226852 SMEK2 c.1557T>G p.F519L Substitution - Missense Large_intestine COSM435127 SRCAP c.5637A>C p.P1879P Substitution - coding silent Breast COSM1093599 TRRAP c.3072C>T p.G1024G Substitution - coding silent Stomach COSM37029 EZH2 c.1937A>C p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87002 DNMT3A c.1627G>T p.G543C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4450414 SMYD4 c.598delG p.E200fs*22 Deletion - Frameshift Skin COSM146934 ERCC6 c.2751C>T p.G917G Substitution - coding silent Soft_tissue COSM415105 PWWP2B c.1555G>A p.G519R Substitution - Missense Urinary_tract COSM221582 DNMT3A c.2678G>C p.W893S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM22657 MEN1 c.? p.K119del Deletion - In frame Parathyroid COSM4165522 JMJD1C c.4079T>G p.I1360S Substitution - Missense Kidney COSM1622671 HDAC9 c.2636G>A p.G879D Substitution - Missense Liver COSM1269733 UHRF2 c.2338A>G p.I780V Substitution - Missense Oesophagus COSM13394 MSH6 c.3261_3262insC p.F1088fs*5 Insertion - Frameshift Stomach COSM4934560 AP001011.3_ENST00000320876 c.4004C>A p.P1335H Substitution - Missense Liver COSM5599122 BAP1 c.819C>T p.T273T Substitution - coding silent Skin COSM4136393 ATRX c.3187T>C p.Y1063H Substitution - Missense Large_intestine COSM32529 BAZ1A c.4268delG p.R1423fs*21 Deletion - Frameshift Breast COSM1121699 PHF16 c.2030T>C p.V677A Substitution - Missense Endometrium COSM3984295 ASH1L c.7178A>G p.N2393S Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5741939 DIDO1 c.4175A>G p.D1392G Substitution - Missense Small_intestine COSM1189678 INO80C c.77G>T p.S26I Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3360865 ZMYM6 c.2403A>G p.V801V Substitution - coding silent Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716566 BAP1 c.1538C>G p.S513* Substitution - Nonsense Thymus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1586683 CHD4 c.830G>A p.S277N Substitution - Missense Endometrium COSM42020 TET2 c.4870C>T p.Q1624* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM740281 ARID1B c.4353T>C p.N1451N Substitution - coding silent Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM6008549 DNMT3B c.856C>T p.H286Y Substitution - Missense Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5563822 MYST3 c.1665G>A p.Q555Q Substitution - coding silent Prostate COSM1309600 INTS12 c.328G>A p.E110K Substitution - Missense Breast COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4584413 DHX30 c.1459A>C p.I487L Substitution - Missense Bone COSM971266 BRD7 c.830_831delAG p.E277fs*18 Deletion - Frameshift Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1363037 SMARCC2 c.3274_3276delCCT p.P1092delP Deletion - In frame Large_intestine COSM4725332 SFMBT2 c.378G>A p.A126A Substitution - coding silent Large_intestine COSM260731 EYA2 c.156A>G p.R52R Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM905237 ACTA1 c.1001C>T p.P334L Substitution - Missense Endometrium COSM1411824 CHD6 c.7987delG p.D2663fs*>53 Deletion - Frameshift Large_intestine COSM937149 EP400 c.2516G>A p.R839Q Substitution - Missense Endometrium COSM1076381 KDM1B c.751-1G>T p.? Unknown Endometrium COSM3862916 ASH1L c.5098C>T p.P1700S Substitution - Missense Skin COSM940008 KMT2D c.10562C>A p.S3521Y Substitution - Missense Endometrium COSM4650891 KDM5C c.4375C>T p.R1459W Substitution - Missense Large_intestine COSM5645967 KMT2A c.9344T>C p.M3115T Substitution - Missense Oesophagus COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4383817 TET2 c.1588C>T p.Q530* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5389170 GATAD2A c.489C>T p.I163I Substitution - coding silent Skin COSM1159091 ATF7IP c.2418G>A p.V806V Substitution - coding silent Pancreas COSM1716415 CTCF c.610delA p.T204fs*18 Deletion - Frameshift Endometrium COSM3928854 JHDM1D c.952A>C p.S318R Substitution - Missense Central_nervous_system COSM1169566 PBRM1 c.4661_4680del20 p.M1555fs*23 Deletion - Frameshift Kidney COSM5889043 CHD7 c.1589C>T p.P530L Substitution - Missense Skin COSM1670246 BAP1 c.1550C>T p.T517M Substitution - Missense Large_intestine COSM5880554 CHD9 c.1858C>G p.Q620E Substitution - Missense Soft_tissue COSM4524773 SMEK1 c.1291G>A p.G431R Substitution - Missense Skin COSM1381235 RAI1 c.2391delC p.P799fs*20 Deletion - Frameshift Large_intestine COSM990751 SMARCA4 c.3005C>T p.A1002V Substitution - Missense Endometrium COSM3443981 KMT2A c.6674C>T p.S2225F Substitution - Missense Skin COSM3608974 KDM3B c.1702C>T p.L568L Substitution - coding silent Skin COSM4834067 SP100 c.433G>C p.E145Q Substitution - Missense Cervix COSM4961413 TDRD6 c.699G>A p.K233K Substitution - coding silent Liver COSM1665663 PBRM1 c.3188_3189delAT p.Y1063fs*8 Deletion - Frameshift Kidney COSM109661 EP300 c.4933C>A p.R1645R Substitution - coding silent Skin COSM5643374 SETBP1 c.757G>A p.A253T Substitution - Missense Oesophagus COSM5571680 BTAF1 c.1799T>C p.V600A Substitution - Missense Prostate COSM5736230 BAZ2B c.704G>T p.R235M Substitution - Missense Small_intestine COSM1399850 MBD5 c.3579_3580insA p.Q1196fs*30 Insertion - Frameshift Large_intestine COSM230181 SFMBT2 c.494C>T p.S165L Substitution - Missense Skin COSM314915 RSF1 c.2587G>T p.E863* Substitution - Nonsense Lung COSM1326362 SP140_ENST00000392045 c.2284-17_2284del18 p.? Unknown Ovary COSM3861881 EHMT2 c.1039C>T p.R347* Substitution - Nonsense Stomach COSM5708606 TBL1XR1 c.409G>T p.G137* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4935467 TDRD1 c.3137T>C p.L1046P Substitution - Missense Liver COSM1099891 MYST3 c.5747T>C p.M1916T Substitution - Missense Endometrium COSM1685945 GABRG1 c.1274G>A p.G425E Substitution - Missense Skin COSM5748877 BAZ2B c.1291C>T p.R431W Substitution - Missense Pancreas COSM3965874 LMNA c.728A>G p.D243G Substitution - Missense Central_nervous_system COSM4399781 SP140_ENST00000392045 c.619G>T p.G207* Substitution - Nonsense Skin COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM24907 HNF1A c.391C>T p.R131W Substitution - Missense Liver COSM13837 ATRX c.2719C>T p.R907* Substitution - Nonsense Central_nervous_system COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43420 TET2 c.4546C>T p.R1516* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM43499 TET2 c.5693C>T p.S1898F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85911 IKZF1 c.161-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51418 ARID1A c.5164C>T p.R1722* Substitution - Nonsense Ovary COSM51418 ARID1A c.5164C>T p.R1722* Substitution - Nonsense Biliary_tract COSM81613 PRDM14 c.1134G>T p.V378V Substitution - coding silent Ovary COSM78153 NCOA1 c.1067C>T p.P356L Substitution - Missense Ovary COSM70172 CHD8 c.1216G>C p.A406P Substitution - Missense Ovary COSM122136 TRRAP c.2919C>T p.A973A Substitution - coding silent Upper_aerodigestive_tract COSM129886 TRIM24 c.808A>G p.I270V Substitution - Missense Upper_aerodigestive_tract COSM159327 BAP1 c.838C>T p.Q280* Substitution - Nonsense Liver COSM166835 TET2 c.3947delC p.P1316fs*47 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM187721 EP300 c.4886C>T p.A1629V Substitution - Missense Endometrium COSM217046 PHC1 c.1941_1953del13 p.E648fs*15 Deletion - Frameshift Liver COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Prostate COSM252973 CDYL2 c.354delA p.Y120fs*27 Deletion - Frameshift Ovary COSM253848 SRCAP c.5260C>T p.L1754L Substitution - coding silent Urinary_tract COSM302349 HCFC1 c.660C>T p.P220P Substitution - coding silent Central_nervous_system COSM314120 PHF2 c.2683delA p.R896fs*64 Deletion - Frameshift Soft_tissue COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Large_intestine COSM306061 PHF6 c.821G>A p.R274Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM307186 BAP1 c.438-19_441del23 p.? Unknown Pleura COSM345865 ZCWPW1 c.3G>T p.M1I Substitution - Missense Lung COSM390130 SMARCA4 c.1458C>G p.F486L Substitution - Missense Lung COSM384697 ORC1 c.1790C>T p.A597V Substitution - Missense Lung COSM391362 BAZ1B c.3813_3815delGGA p.E1273delE Deletion - In frame Large_intestine COSM403773 DIDO1 c.4605C>G p.F1535L Substitution - Missense Lung COSM403912 TTF2 c.144C>A p.S48S Substitution - coding silent Lung COSM404413 BTAF1 c.5228T>C p.I1743T Substitution - Missense Lung COSM426746 RERE c.2475G>A p.P825P Substitution - coding silent Large_intestine COSM459505 KDM5A c.797G>A p.R266Q Substitution - Missense Cervix COSM975855 NCOR1 c.7041G>A p.T2347T Substitution - coding silent Endometrium COSM985846 BAHCC1 c.1482C>T p.F494F Substitution - coding silent Endometrium COSM2270955 DNMT3A c.994G>A p.G332R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM582283 MECOM c.1461A>T p.S487S Substitution - coding silent Upper_aerodigestive_tract COSM688113 PRDM11 c.1197G>A p.W399* Substitution - Nonsense Lung COSM758040 KDM5D c.4299G>C p.R1433R Substitution - coding silent Lung COSM920019 SFMBT2 c.1740G>A p.R580R Substitution - coding silent Endometrium COSM702075 CHD2 c.543C>A p.V181V Substitution - coding silent Lung COSM707754 KDM6B c.1408C>G p.P470A Substitution - Missense Lung COSM725895 AIRE c.1278+1G>T p.? Unknown Lung COSM934224 HCFC2 c.696G>T p.W232C Substitution - Missense Endometrium COSM926760 RAG2 c.463C>A p.L155I Substitution - Missense Endometrium COSM1071740 PRDM1 c.1040C>T p.T347M Substitution - Missense Endometrium COSM1109465 KIAA2026_ENST00000399933 c.2769G>A p.P923P Substitution - coding silent Endometrium COSM1125865 BRWD3 c.1642T>C p.Y548H Substitution - Missense Endometrium COSM1087527 KMT2C c.12632G>A p.R4211Q Substitution - Missense Endometrium COSM1246211 BRD1 c.1948A>G p.R650G Substitution - Missense Oesophagus COSM1245619 ASXL3 c.982G>C p.A328P Substitution - Missense Oesophagus COSM1200960 CHD2 c.1208G>A p.R403Q Substitution - Missense Large_intestine COSM1205879 EYA2 c.749G>A p.R250Q Substitution - Missense Prostate COSM1302458 SMYD4 c.2064G>C p.E688D Substitution - Missense Urinary_tract COSM1301099 INOC1 c.1366G>A p.E456K Substitution - Missense Urinary_tract COSM1290056 TDRD5 c.2272G>C p.A758P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1328886 NSD1 c.6152-2A>C p.? Unknown Ovary COSM1421140 FXR1 c.363_364insA p.N124fs*5 Insertion - Frameshift Large_intestine COSM1429842 GABRG1 c.238C>T p.R80C Substitution - Missense Skin COSM1426221 TET2 c.5831C>T p.S1944F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1411729 ACTR5 c.385G>A p.D129N Substitution - Missense Large_intestine COSM1448544 JHDM1D c.731T>C p.I244T Substitution - Missense Kidney COSM1440968 SHPRH c.2285delT p.L762fs*6 Deletion - Frameshift Large_intestine COSM1363771 CHD4 c.1039C>T p.R347* Substitution - Nonsense Endometrium COSM1670717 ACTL6A c.785T>G p.F262C Substitution - Missense Large_intestine COSM1727372 KMT2C c.1596A>C p.E532D Substitution - Missense Liver COSM1726423 SCML2 c.199A>G p.M67V Substitution - Missense Liver COSM1740853 SP140_ENST00000392045 c.825delG p.N276fs*27 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2152146 DIDO1 c.253G>A p.G85S Substitution - Missense Central_nervous_system COSM2112156 PRMT3 c.1581T>G p.T527T Substitution - coding silent Large_intestine COSM3017538 SHPRH c.4609G>A p.V1537I Substitution - Missense Large_intestine COSM3359087 PRDM10 c.2959G>C p.A987P Substitution - Missense Kidney COSM3392494 BAP1 c.1526C>A p.S509* Substitution - Nonsense Pancreas COSM3394656 HDAC9 c.513C>A p.S171S Substitution - coding silent Pancreas COSM3501423 TP53BP1 c.2501C>T p.S834F Substitution - Missense Skin COSM3508977 SETD1A c.1931C>T p.P644L Substitution - Missense Skin COSM3416307 TRIM66 c.3622C>T p.R1208C Substitution - Missense Large_intestine COSM3441497 BTAF1 c.253+2T>A p.? Unknown Skin COSM3656483 SMARCA2 c.434C>A p.P145Q Substitution - Missense Skin COSM3656859 TAF1L c.2302C>T p.R768C Substitution - Missense Skin COSM3648806 ASH2L c.575C>T p.S192F Substitution - Missense Skin COSM3699498 GTF3C4 c.10G>A p.A4T Substitution - Missense Large_intestine COSM3668120 SMCHD1 c.2077A>G p.I693V Substitution - Missense Liver COSM3719306 KDM4D c.395A>T p.N132I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3711660 ORC1 c.208G>A p.E70K Substitution - Missense Upper_aerodigestive_tract COSM3756112 AP001011.3_ENST00000320876 c.3528A>G p.T1176T Substitution - coding silent Large_intestine COSM3759544 ATRX c.2785C>G p.Q929E Substitution - Missense Breast COSM3749370 SETD6 c.193T>C p.L65L Substitution - coding silent Large_intestine COSM3810193 KDM2A c.59G>A p.R20Q Substitution - Missense Breast COSM3814485 CHD8 c.2019G>T p.K673N Substitution - Missense Breast COSM3934087 VPS72 c.248G>A p.R83Q Substitution - Missense Oesophagus COSM3832364 KMT2C c.5155C>T p.Q1719* Substitution - Nonsense Breast COSM3883774 TRRAP c.10683A>G p.S3561S Substitution - coding silent Stomach COSM4031002 ARID1A c.1803+2T>C p.? Unknown Stomach COSM4007344 ZMYM4 c.544C>T p.R182W Substitution - Missense Stomach COSM4043535 SMARCC2 c.1459C>T p.R487C Substitution - Missense Stomach COSM4054371 BAHD1 c.1968C>T p.P656P Substitution - coding silent Stomach COSM4095559 SMYD5 c.843A>G p.E281E Substitution - coding silent Stomach COSM4077880 SIRT2 c.397G>A p.A133T Substitution - Missense Stomach COSM4072887 L3MBTL4 c.1445-2A>G p.? Unknown Stomach COSM4185921 BRD4 c.360G>C p.W120C Substitution - Missense Kidney COSM4215756 TDRD3 c.943A>C p.N315H Substitution - Missense Skin COSM4384652 KDM5A c.3499C>T p.R1167C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4385241 EP300 c.1672A>G p.T558A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4596458 KMT2C c.2065A>G p.M689V Substitution - Missense Upper_aerodigestive_tract COSM4425905 SND1 c.2395G>A p.A799T Substitution - Missense Pancreas COSM4548616 NCOR1 c.451G>A p.G151S Substitution - Missense Skin COSM4591270 KMT2C c.2512G>A p.G838S Substitution - Missense Upper_aerodigestive_tract COSM4438426 POGZ c.569-4A>C p.? Unknown Oesophagus COSM4675725 CXXC1 c.1595A>G p.D532G Substitution - Missense Large_intestine COSM4729942 SRCAP c.6809A>T p.E2270V Substitution - Missense Large_intestine COSM4663223 ARID1A c.3210_3211insA p.W1073fs*32 Insertion - Frameshift Pancreas COSM4631608 CREBBP c.5719G>A p.A1907T Substitution - Missense Large_intestine COSM4644334 SETD4 c.807C>T p.F269F Substitution - coding silent Large_intestine COSM4655200 LBR c.11G>T p.R4M Substitution - Missense Large_intestine COSM4756523 PHF3 c.5854A>G p.S1952G Substitution - Missense Stomach COSM4747836 PHF19 c.1566delT p.F522fs*>59 Deletion - Frameshift Stomach COSM4796076 PRMT8 c.834G>A p.V278V Substitution - coding silent Liver COSM4800958 TAF1 c.4203+1G>T p.? Unknown Liver COSM4792832 SETD1A c.2208G>A p.G736G Substitution - coding silent Liver COSM4835395 ARID1A c.3551C>T p.S1184L Substitution - Missense Cervix COSM4835401 MECOM c.2107G>A p.E703K Substitution - Missense Cervix COSM4823285 KDM2A c.1155G>C p.L385F Substitution - Missense Cervix COSM4826799 PRDM16 c.458G>A p.S153N Substitution - Missense Cervix COSM4965966 TAF1 c.3541C>T p.R1181C Substitution - Missense Pancreas COSM4992838 TIF1 c.2658G>C p.M886I Substitution - Missense Skin COSM4984989 HNF1A c.1460G>A p.S487N Substitution - Missense Liver COSM5028062 CREBBP c.5433G>A p.K1811K Substitution - coding silent Breast COSM5056036 SETBP1 c.1255delA p.R421fs*23 Deletion - Frameshift Stomach COSM5409834 EYA1 c.1293G>A p.M431I Substitution - Missense Skin COSM5363804 RAI1 c.5188_5190delGAG p.E1731delE Deletion - In frame Large_intestine COSM5512539 ATAD2 c.4093C>T p.R1365W Substitution - Missense Biliary_tract COSM5434727 PRDM9 c.372C>T p.F124F Substitution - coding silent Skin COSM5623683 ARID1B c.784A>G p.S262G Substitution - Missense Oesophagus COSM5748960 ZMYM3 c.2206C>T p.R736C Substitution - Missense Pancreas COSM5621089 KDM5C c.3136C>T p.P1046S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5621504 PHF17 c.691C>T p.H231Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5593573 TRIM24 c.2705C>T p.P902L Substitution - Missense Skin COSM5600370 RNF17 c.344A>G p.K115R Substitution - Missense Skin COSM5583989 RAI1 c.2778C>T p.I926I Substitution - coding silent Skin COSM5580291 ATF7IP c.1355T>C p.F452S Substitution - Missense Skin COSM5679409 PHRF1 c.4932G>A p.Q1644Q Substitution - coding silent Soft_tissue COSM5694189 BAZ2B c.2268G>A p.E756E Substitution - coding silent Soft_tissue COSM5694292 GABRG1 c.400A>G p.M134V Substitution - Missense Soft_tissue COSM5663547 FMR1 c.1050A>G p.P350P Substitution - coding silent Soft_tissue COSM5557462 CTCF c.2161A>T p.I721F Substitution - Missense Prostate COSM5763417 MTA1 c.1244G>A p.R415H Substitution - Missense Large_intestine COSM5554980 SMARCA4 c.691G>A p.G231S Substitution - Missense Prostate COSM5731843 ATRX c.2192_2192delC p.S731fs*5 Deletion - Frameshift Soft_tissue COSM5824103 RNF17 c.1686T>C p.T562T Substitution - coding silent Liver COSM5945263 KMT2D c.5698C>T p.Q1900* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5946444 MBD6 c.2596A>G p.R866G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5926302 SCMH1 c.1364C>T p.S455F Substitution - Missense Skin COSM5965360 JARID2 c.822C>A p.P274P Substitution - coding silent Breast COSM6012840 MLL5 c.4025A>G p.D1342G Substitution - Missense Skin COSM6003117 BPTF c.5537G>T p.G1846V Substitution - Missense Prostate COSM5982086 MGA c.4660_4662delTCC p.S1556delS Deletion - In frame Upper_aerodigestive_tract COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM5753364 PBRM1 c.? p.E532* Substitution - Nonsense Kidney COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51384 IDH1 c.? p.R132L Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144621 KMT2D c.13972_13972delC p.P4659fs*66 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41707 TET2 c.4676_4677insA p.Y1560fs*18 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM22626 MEN1 c.? p.L37P Substitution - Missense Pancreas COSM3418417 TDRD5 c.136C>T p.R46* Substitution - Nonsense Oesophagus COSM4384754 KMT2D c.2584C>T p.P862S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5372496 PHF21A c.1066C>T p.P356S Substitution - Missense Skin COSM1665967 PBRM1 c.2965+1G>T p.? Unknown Kidney COSM1118768 SCML2 c.426G>A p.P142P Substitution - coding silent Endometrium COSM4274973 INO80C c.275G>A p.G92D Substitution - Missense Large_intestine COSM1028974 DIDO1 c.4216C>T p.R1406W Substitution - Missense Large_intestine COSM4819342 ORC1 c.1704C>G p.V568V Substitution - coding silent Cervix COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM260045 CDYL c.1393G>T p.A465S Substitution - Missense Large_intestine COSM122851 EP300 c.4195G>A p.D1399N Substitution - Missense Cervix COSM1091575 BAZ1B c.256A>G p.K86E Substitution - Missense Endometrium COSM473548 SIRT7 c.14G>A p.G5D Substitution - Missense Kidney COSM121226 MTA2 c.534C>T p.V178V Substitution - coding silent Upper_aerodigestive_tract COSM3724494 DNMT3A c.? p.R736C Substitution - Missense Thyroid COSM4501469 SIRT4 c.589C>T p.H197Y Substitution - Missense Skin COSM4657179 RERE c.4381G>A p.A1461T Substitution - Missense Large_intestine COSM5383268 MGA c.5810C>T p.S1937F Substitution - Missense Skin COSM5396691 NCOA1 c.3012C>T p.L1004L Substitution - coding silent Skin COSM4909768 EED c.685T>G p.F229V Substitution - Missense Liver COSM1240654 WHSC1 c.3325G>A p.A1109T Substitution - Missense Oesophagus COSM247315 SHPRH c.2386C>T p.R796W Substitution - Missense Prostate COSM4777524 PBRM1 c.1535_1535delG p.R512fs*7 Deletion - Frameshift Breast COSM1262937 PRDM1 c.640G>A p.V214M Substitution - Missense Stomach COSM1716413 CTCF c.405delG p.A137fs*17 Deletion - Frameshift Endometrium COSM20436 TAF1L c.1994delA p.K665fs*4 Deletion - Frameshift Large_intestine COSM254548 ARID1A c.1850C>G p.S617* Substitution - Nonsense Urinary_tract COSM5699496 ZBTB33 c.132G>C p.R44R Substitution - coding silent Soft_tissue COSM5572880 ZCWPW2 c.278A>T p.Y93F Substitution - Missense Prostate COSM418355 LMNB2 c.1281C>T p.S427S Substitution - coding silent Urinary_tract COSM5452714 SETD3 c.1578C>T p.L526L Substitution - coding silent Large_intestine COSM4957807 BAZ2B c.1563A>C p.E521D Substitution - Missense Liver COSM5986666 NCOR1 c.1124delG p.S376fs*27 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3357457 TAF1 c.1100A>C p.K367T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5443811 TET2 c.4309G>A p.E1437K Substitution - Missense Oesophagus COSM5362033 PHF11 c.794delT p.F266fs*11 Deletion - Frameshift Large_intestine COSM3065137 HDAC10 c.601C>T p.R201C Substitution - Missense Large_intestine COSM1668049 LMNA c.1147G>A p.E383K Substitution - Missense Large_intestine COSM1635198 KMT2C c.2185A>G p.N729D Substitution - Missense Upper_aerodigestive_tract COSM3615211 PRDM9 c.1300G>T p.D434Y Substitution - Missense Skin COSM4590120 KDM4B c.2128A>G p.K710E Substitution - Missense Upper_aerodigestive_tract COSM3733523 NCOR1 c.14G>T p.G5V Substitution - Missense Urinary_tract COSM3704573 RNF17 c.784-10T>A p.? Unknown Liver COSM4409565 PRDM5 c.832G>T p.A278S Substitution - Missense Oesophagus COSM1090912 ACTB c.720delC p.Y240fs*1 Deletion - Frameshift Endometrium COSM3896550 ATAD2 c.3578C>T p.A1193V Substitution - Missense Stomach COSM3359514 PRDM4 c.265A>C p.N89H Substitution - Missense Kidney COSM1722309 MYST3 c.5079A>C p.P1693P Substitution - coding silent Central_nervous_system COSM4855040 EYA1 c.1021A>G p.T341A Substitution - Missense Cervix COSM43417 TET2 c.2746C>T p.Q916* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM422735 BAP1 c.38G>T p.G13V Substitution - Missense Kidney COSM81365 L3MBTL2 c.72G>A p.L24L Substitution - coding silent Ovary COSM4135360 SETD2 c.2670A>C p.L890F Substitution - Missense Pancreas COSM4445640 CHD4 c.2653-3C>T p.? Unknown Skin COSM4954063 ATF7IP c.3168T>C p.A1056A Substitution - coding silent Liver COSM1717092 CHD9 c.5781C>T p.R1927R Substitution - coding silent Ovary COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM5565144 MGA c.7444C>T p.R2482W Substitution - Missense Prostate COSM3438385 ERCC6 c.1996C>T p.R666C Substitution - Missense Skin COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4499927 GTF3C1 c.5535C>T p.S1845S Substitution - coding silent Skin COSM5095516 BAP1 c.1039C>T p.H347Y Substitution - Missense Thymus COSM4944608 EHMT2 c.2270A>C p.H757P Substitution - Missense Liver COSM4136854 PHF20 c.2917T>A p.Y973N Substitution - Missense Ovary COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4995437 ARID1A c.4717C>T p.Q1573* Substitution - Nonsense Upper_aerodigestive_tract COSM907704 ARID1A c.2979_2980insA p.S995fs*12 Insertion - Frameshift Endometrium COSM211680 TET2 c.1423_1423delA p.M475fs*11 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3858398 EYA4 c.223G>T p.V75F Substitution - Missense Stomach COSM4476671 TDRD5 c.2086C>T p.P696S Substitution - Missense Skin COSM303902 DNMT3A c.1740_1741insC p.W581fs*31 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1239175 JARID2 c.1266delG p.R425fs*36 Deletion - Frameshift Large_intestine COSM4002744 PBRM1 c.4335A>G p.P1445P Substitution - coding silent Soft_tissue COSM4120734 BRPF1 c.2222A>G p.Q741R Substitution - Missense Stomach COSM745823 KMT2C c.817G>T p.V273L Substitution - Missense Lung COSM5020872 KDM5A c.3519T>C p.F1173F Substitution - coding silent Soft_tissue COSM5966598 AP001011.3_ENST00000320876 c.2890C>A p.P964T Substitution - Missense Adrenal_gland COSM1336717 TDRD5 c.1927G>A p.E643K Substitution - Missense Large_intestine COSM313157 NCOA6 c.4853C>T p.T1618I Substitution - Missense Lung COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Prostate COSM4818718 KDM3B c.2329C>G p.L777V Substitution - Missense Cervix COSM3790347 MTF2 c.493G>A p.A165T Substitution - Missense Urinary_tract COSM4591406 DIDO1 c.4867G>A p.E1623K Substitution - Missense Upper_aerodigestive_tract COSM2154707 RNF134 c.553A>G p.I185V Substitution - Missense Central_nervous_system COSM734380 GABRG1 c.1303C>T p.R435C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM218651 BRWD1 c.924A>C p.L308F Substitution - Missense Pancreas COSM368689 SMARCA4 c.3546+1G>T p.? Unknown Lung COSM3363901 HCFC1 c.5415T>A p.S1805R Substitution - Missense Kidney COSM1719032 HCFC1 c.2504C>T p.S835L Substitution - Missense Skin COSM4485177 TCF20 c.2900C>T p.P967L Substitution - Missense Skin COSM5943886 KDM4A c.315-6delA p.? Unknown Skin COSM4611398 ZMYM2 c.3124delA p.K1044fs*33 Deletion - Frameshift Large_intestine COSM5057314 CHD6 c.472delC p.R158fs*53 Deletion - Frameshift Stomach COSM4000524 MUM1 c.135T>C p.S45S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM445939 PHC3 c.913C>T p.Q305* Substitution - Nonsense Breast COSM2813804 SMARCA4 c.4338G>A p.P1446P Substitution - coding silent Breast COSM3832370 KMT2C c.3652C>T p.Q1218* Substitution - Nonsense Cervix COSM1624798 EHMT1 c.1920G>A p.T640T Substitution - coding silent Liver COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3883696 TRRAP c.773T>C p.I258T Substitution - Missense Stomach COSM920701 TAF3 c.1222G>A p.E408K Substitution - Missense Large_intestine COSM3583872 SMYD1 c.1018G>A p.E340K Substitution - Missense Skin COSM3021797 JARID2 c.698G>A p.R233Q Substitution - Missense Skin COSM4170454 KMT2D c.1532C>G p.P511R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM389413 CHD6 c.4747G>A p.D1583N Substitution - Missense Lung COSM1088636 STK31 c.1434A>G p.L478L Substitution - coding silent Endometrium COSM757645 TAF1 c.1841A>C p.Q614P Substitution - Missense Lung COSM987428 AP001011.3_ENST00000320876 c.4951C>A p.L1651I Substitution - Missense Endometrium COSM1716184 EZH2 c.? p.A682G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96925 TET2 c.4567C>T p.Q1523* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1609411 CHD9 c.3331C>T p.R1111W Substitution - Missense Liver COSM4513424 KMT2D c.8575C>T p.P2859S Substitution - Missense Skin COSM4691737 IDH1 c.1243delT p.*415fs? Deletion - Frameshift Large_intestine COSM5552958 CHD8 c.5446G>T p.E1816* Substitution - Nonsense Prostate COSM3824312 BAP1 c.134G>A p.G45E Substitution - Missense Skin COSM484897 TIF1 c.1559A>C p.N520T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4459500 ACTA1 c.1128C>T p.C376C Substitution - coding silent Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3764813 BAZ2B c.2195-1G>C p.? Unknown Central_nervous_system COSM5566138 SMYD1 c.1384C>T p.R462C Substitution - Missense Prostate COSM1307405 CHD6 c.913G>A p.E305K Substitution - Missense Urinary_tract COSM3887208 PYGO1 c.140C>T p.P47L Substitution - Missense Skin COSM1320121 TRIM33 c.2464C>G p.L822V Substitution - Missense Ovary COSM4172275 SMARCB1 c.273delA p.A93fs*50 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM359099 EZH1 c.1283C>T p.P428L Substitution - Missense Lung COSM4100184 DIDO1 c.4430A>C p.K1477T Substitution - Missense Stomach COSM87097 TET2 c.2176_2179delCAGG p.A727fs*23 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4695021 KDM5C c.2167G>A p.D723N Substitution - Missense Large_intestine COSM1123278 PHF8 c.525T>C p.F175F Substitution - coding silent Endometrium COSM277640 TDRD7 c.265C>T p.R89C Substitution - Missense Large_intestine COSM1244722 AKAP1 c.2209C>T p.R737C Substitution - Missense Oesophagus COSM219137 TET2 c.3431A>C p.E1144A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5730492 MGA c.3382G>C p.E1128Q Substitution - Missense Breast COSM3463524 BAZ2A c.4746C>T p.T1582T Substitution - coding silent Skin COSM5554611 STK31 c.485G>C p.G162A Substitution - Missense Prostate COSM3461627 KMT2D c.1514C>T p.P505L Substitution - Missense Skin COSM204731 BRD8 c.2962G>A p.E988K Substitution - Missense Endometrium COSM961211 BAHD1 c.1401C>T p.G467G Substitution - coding silent Endometrium COSM343670 CLOCK c.82G>A p.E28K Substitution - Missense Lung COSM4133851 CAMKMT c.79A>C p.T27P Substitution - Missense Thyroid COSM5347208 ARID1A c.?_?del? p.Q909fs*? Deletion - Frameshift Endometrium COSM5798484 EYA1 c.1518C>A p.I506I Substitution - coding silent Breast COSM3842897 BRD1 c.1426G>A p.A476T Substitution - Missense Breast COSM1380019 CDYL2 c.879C>T p.D293D Substitution - coding silent Large_intestine COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1582718 STK31 c.344A>G p.D115G Substitution - Missense Stomach COSM215641 GTF3C1 c.2719G>A p.D907N Substitution - Missense Central_nervous_system COSM1341426 ARID1A c.5542delG p.D1850fs*33 Deletion - Frameshift Large_intestine COSM433784 BAHD1 c.892C>A p.Q298K Substitution - Missense Large_intestine COSM3789827 ARID1A c.3082C>T p.L1028L Substitution - coding silent Urinary_tract COSM3397044 BMI1 c.102T>G p.C34W Substitution - Missense Central_nervous_system COSM5008177 EP400 c.11G>A p.G4D Substitution - Missense Large_intestine COSM2001150 EP400 c.7877C>T p.A2626V Substitution - Missense Large_intestine COSM3446223 PRMT3 c.738C>T p.F246F Substitution - coding silent Skin COSM5441364 MECOM c.2121A>T p.S707S Substitution - coding silent Oesophagus COSM40501 PRDM5 c.1247C>T p.P416L Substitution - Missense Central_nervous_system COSM5719952 SETD5_ENST00000402198 c.1306G>A p.G436R Substitution - Missense Skin COSM3443953 KMT2A c.2813C>T p.S938L Substitution - Missense Skin COSM4151332 CREBBP c.3988C>G p.Q1330E Substitution - Missense Kidney COSM5683982 TRDMT1 c.389+1G>C p.? Unknown Soft_tissue COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4072576 MBD2 c.406C>T p.P136S Substitution - Missense Stomach COSM1453233 TRRAP c.11044C>T p.R3682* Substitution - Nonsense Skin COSM5753528 SFMBT2 c.1261_1262insT p.N421fs*35 Insertion - Frameshift Large_intestine COSM161473 HDAC9 c.2323-1G>T p.? Unknown Large_intestine COSM1363343 MBD6 c.1788G>A p.S596S Substitution - coding silent Large_intestine COSM1717192 BAHD1 c.1958G>T p.W653L Substitution - Missense Ovary COSM1713479 CHD6 c.1865A>C p.K622T Substitution - Missense Skin COSM3830927 PHF3 c.5436A>C p.P1812P Substitution - coding silent Breast COSM5352289 EP300 c.? p.T594M Substitution - Missense Endometrium COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5359725 UHRF2 c.974-1G>C p.? Unknown Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5992838 HDAC1 c.1106A>G p.N369S Substitution - Missense Prostate COSM992145 BRD4 c.1471G>A p.D491N Substitution - Missense Endometrium COSM3463375 SMARCC2 c.2657C>T p.S886F Substitution - Missense Skin COSM4622202 PHRF1 c.2473C>T p.R825W Substitution - Missense Large_intestine COSM256046 IDH2 c.515_516GG>AT p.R172N Substitution - Missense Biliary_tract COSM3399117 APOBEC1 c.143G>A p.R48Q Substitution - Missense Central_nervous_system COSM4949785 ARID2 c.1574_1580delGTCAGTG p.Q526fs*1 Deletion - Frameshift Liver COSM5761502 NIPBL c.535G>A p.A179T Substitution - Missense Pancreas COSM1012906 ASXL1 c.2346_2374del29 p.H782fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4121119 TET2 c.558G>A p.E186E Substitution - coding silent Stomach COSM4168095 CHD1 c.1114G>T p.E372* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM254630 CREBBP c.3323C>A p.S1108* Substitution - Nonsense Urinary_tract COSM3349831 DAXX c.10G>A p.A4T Substitution - Missense Large_intestine COSM1239824 PHRF1 c.1062G>A p.P354P Substitution - coding silent Oesophagus COSM5942713 EZH1 c.1654C>T p.P552S Substitution - Missense Skin COSM1716886 TET2 c.3769_3770ins11 p.R1262fs*8 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3760322 TET2 c.5284A>G p.I1762V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3924311 TRRAP c.4510C>T p.H1504Y Substitution - Missense Skin COSM4403425 TDRD10 c.576C>T p.V192V Substitution - coding silent Skin COSM3358463 SETD2 c.274_275delTC p.S92fs*3 Deletion - Frameshift Kidney COSM5781182 CHD8 c.2434C>T p.R812W Substitution - Missense Breast COSM4912014 DNMT3A c.1610G>T p.C537F Substitution - Missense Liver COSM5384616 GTF3C1 c.1336G>A p.E446K Substitution - Missense Skin COSM1101423 NCOA2 c.152A>G p.E51G Substitution - Missense Endometrium COSM4490391 SETD1A c.3632C>T p.P1211L Substitution - Missense Skin COSM1440972 SHPRH c.495delA p.E166fs*3 Deletion - Frameshift Large_intestine COSM1692723 DHX30 c.677C>T p.S226F Substitution - Missense Skin COSM4855735 BRD9 c.643C>T p.R215W Substitution - Missense Cervix COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1480123 KDM6B c.2253_2255delCAC p.T762delT Deletion - In frame Kidney COSM750498 ASH2L c.521C>T p.A174V Substitution - Missense Lung COSM3190625 HDAC5 c.1182G>A p.S394S Substitution - coding silent Large_intestine COSM304376 HAT1 c.152T>C p.F51S Substitution - Missense Large_intestine COSM4101715 PRDM15 c.1831C>T p.R611W Substitution - Missense Stomach COSM5610600 SMARCA2 c.4262G>T p.R1421L Substitution - Missense Skin COSM4632331 MECOM c.2449A>G p.M817V Substitution - Missense Large_intestine COSM3341127 NSD1 c.3717A>G p.K1239K Substitution - coding silent Large_intestine COSM3915401 TBL1XR1 c.301G>A p.D101N Substitution - Missense Skin COSM3764549 GTF3C1 c.3328C>A p.P1110T Substitution - Missense Central_nervous_system COSM275029 EYA4 c.887C>T p.S296L Substitution - Missense Endometrium COSM3154282 PRDM1 c.554T>G p.L185R Substitution - Missense Large_intestine COSM97914 NCOR1 c.4135G>A p.E1379K Substitution - Missense Upper_aerodigestive_tract COSM3358544 PBRM1 c.1642delG p.V548fs*21 Deletion - Frameshift Kidney COSM255213 MEN1 c.1621A>G p.T541A Substitution - Missense Soft_tissue COSM1401404 ATF2 c.772G>T p.V258F Substitution - Missense Large_intestine COSM955474 BAZ1A c.743C>T p.T248M Substitution - Missense Endometrium COSM2152632 KDM6B c.3149C>T p.P1050L Substitution - Missense Central_nervous_system COSM4989246 RERE c.3568A>C p.K1190Q Substitution - Missense Soft_tissue COSM5715080 IDH2 c.535-8C>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5945042 TET2 c.3581C>G p.P1194R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5029364 KAT6B c.4351G>T p.E1451* Substitution - Nonsense Bone COSM4384253 EZH2 c.2007C>G p.S669R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5978568 SETD5_ENST00000402198 c.376G>A p.D126N Substitution - Missense Upper_aerodigestive_tract COSM1409876 SMYD1 c.37A>G p.T13A Substitution - Missense Large_intestine COSM4383964 TET2 c.5254delA p.N1753fs*10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM254627 CREBBP c.310C>T p.Q104* Substitution - Nonsense Urinary_tract COSM1738286 HDAC9 c.1757G>A p.R586H Substitution - Missense Ovary COSM3752976 KDM2B c.2487G>A p.Q829Q Substitution - coding silent Breast COSM1228043 SUV420H1 c.161-1G>T p.? Unknown Large_intestine COSM3473509 SETDB1 c.333C>T p.S111S Substitution - coding silent Skin COSM1197644 MTA2 c.373G>T p.D125Y Substitution - Missense Lung COSM937493 ATF7IP c.482C>G p.S161C Substitution - Missense Endometrium COSM1640116 ARID4A c.1259delA p.D423fs*2 Deletion - Frameshift Large_intestine COSM3509556 CREBBP c.3884T>C p.V1295A Substitution - Missense Skin COSM1283496 ARID1A c.3416G>T p.G1139V Substitution - Missense Autonomic_ganglia COSM1741218 TET2 c.5183_5184insCATG p.E1728fs*13 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4845420 TDRD1 c.2002C>A p.L668I Substitution - Missense Cervix COSM4951914 ZMYM4 c.659C>A p.T220K Substitution - Missense Liver COSM2171606 DMAP1 c.1012A>G p.I338V Substitution - Missense Lung COSM4007357 ZMYM4 c.3868T>C p.F1290L Substitution - Missense Stomach COSM5682781 NCOR1 c.97C>G p.R33G Substitution - Missense Soft_tissue COSM96347 ASXL1 c.? p.G646fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM3815405 ALKBH1 c.133G>A p.D45N Substitution - Missense Parathyroid COSM5454510 NCOR1 c.6421C>T p.H2141Y Substitution - Missense Large_intestine COSM1034586 L3MBTL2 c.566G>T p.S189I Substitution - Missense Endometrium COSM1076379 KDM1B c.639C>T p.C213C Substitution - coding silent Breast COSM3650713 EYA1 c.1375G>C p.A459P Substitution - Missense Skin COSM96481 CREBBP c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4990885 CREBBP c.3396C>T p.P1132P Substitution - coding silent Skin COSM4390413 MSH6 c.2638G>T p.D880Y Substitution - Missense Urinary_tract COSM3909806 SP140_ENST00000392045 c.1192G>A p.G398R Substitution - Missense Skin COSM4983009 MBD1 c.1536C>T p.G512G Substitution - coding silent Oesophagus COSM4764006 FXR1 c.1340G>T p.R447I Substitution - Missense Stomach COSM4730571 STK31 c.1489A>C p.K497Q Substitution - Missense Large_intestine COSM13394 MSH6 c.3261_3262insC p.F1088fs*5 Insertion - Frameshift Large_intestine COSM2229068 EP400 c.2217A>G p.I739M Substitution - Missense Large_intestine COSM1686251 NCOR1 c.467C>T p.P156L Substitution - Missense Skin COSM3756522 GATAD2A c.267G>A p.S89S Substitution - coding silent Large_intestine COSM3943152 TDRD5 c.961G>A p.G321R Substitution - Missense Ovary COSM1116470 FMR1 c.1324C>T p.R442* Substitution - Nonsense Endometrium COSM218428 ARID1A c.6076C>T p.Q2026* Substitution - Nonsense Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4159761 NSD1 c.6903G>C p.G2301G Substitution - coding silent Soft_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM23026 MEN1 c.1351-4C>T p.? Unknown Adrenal_gland COSM3635742 EZH2 c.1236C>T p.S412S Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4605881 SFMBT2 c.760G>T p.D254Y Substitution - Missense Upper_aerodigestive_tract COSM4849780 SMARCD3 c.1254C>G p.L418L Substitution - coding silent Cervix COSM5606600 GTF3C1 c.1566T>G p.V522V Substitution - coding silent Skin COSM4933808 BAZ2B c.923A>G p.D308G Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4917777 BAZ2A c.5033G>T p.R1678L Substitution - Missense Liver COSM1716790 TET2 c.1439_1439delC p.P480fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4385610 TET2 c.5216_5217insT p.R1739fs*14 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5966514 MSL3 c.1057C>A p.R353S Substitution - Missense Adrenal_gland COSM219021 RBBP7 c.908G>A p.R303H Substitution - Missense Large_intestine COSM30593 SMARCA4 c.2002-2A>G p.? Unknown Lung COSM4961351 CREBBP c.6292G>A p.A2098T Substitution - Missense Liver COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4603886 TET2 c.3410-9delT p.? Unknown Upper_aerodigestive_tract COSM909902 KDM4A c.3182C>T p.A1061V Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4143830 PHC2 c.828T>C p.P276P Substitution - coding silent Thyroid COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4519050 SMARCA2 c.934_935CC>TA p.P312* Substitution - Nonsense Skin COSM51432 ARID1A c.6472C>T p.R2158* Substitution - Nonsense Endometrium COSM4836265 JMJD1C c.340G>A p.D114N Substitution - Missense Cervix COSM211021 PHF8 c.2444-1C>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4766170 TET2 c.5269_5269delC p.H1757fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3995680 BAZ1B c.3335T>C p.F1112S Substitution - Missense Kidney COSM4396824 BRPF1 c.2214C>T p.A738A Substitution - coding silent Skin COSM5914774 SCMH1 c.23G>C p.S8T Substitution - Missense Skin COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Bone COSM5584491 ARID2 c.3916C>T p.P1306S Substitution - Missense Skin COSM5052624 ASH1L c.4257G>A p.T1419T Substitution - coding silent Stomach COSM985414 CBX4 c.507C>T p.Y169Y Substitution - coding silent Prostate COSM4735461 TP53BP1 c.211G>A p.E71K Substitution - Missense Large_intestine COSM4387636 KMT2C c.2657G>A p.R886H Substitution - Missense Pancreas COSM5417544 PRDM9 c.732A>T p.P244P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4794800 TDRD6 c.3834G>A p.E1278E Substitution - coding silent Liver COSM1411322 NCOA6 c.2101C>G p.P701A Substitution - Missense Large_intestine COSM4072470 CXXC1 c.1346G>T p.R449L Substitution - Missense Stomach COSM5357753 SIRT5 c.380G>A p.R127Q Substitution - Missense Large_intestine COSM3841217 NCOA3 c.4024C>T p.P1342S Substitution - Missense Breast COSM24595 SMARCB1 c.157C>T p.R53* Substitution - Nonsense Central_nervous_system COSM1051622 SMARCA5 c.2546A>C p.D849A Substitution - Missense Endometrium COSM2889284 ASXL1 c.2720T>C p.V907A Substitution - Missense Large_intestine COSM3808481 KMT2A c.5011G>C p.D1671H Substitution - Missense Breast COSM3358182 TRRAP c.798G>A p.A266A Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM279027 ATF7IP c.1231A>G p.N411D Substitution - Missense Large_intestine COSM4807444 SMARCA1 c.1793C>T p.P598L Substitution - Missense Pancreas COSM3707701 ASXL1 c.1542T>C p.T514T Substitution - coding silent Liver COSM3857080 PRDM13 c.1892G>A p.R631H Substitution - Missense Stomach COSM1486628 NSD1 c.1964G>A p.S655N Substitution - Missense Breast COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Biliary_tract COSM34039 IDH2 c.514A>T p.R172W Substitution - Missense Biliary_tract COSM43499 TET2 c.5693C>T p.S1898F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Large_intestine COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Pancreas COSM76531 SMC1A c.1744G>T p.D582Y Substitution - Missense Ovary COSM96531 IDH1 c.209G>A p.G70D Substitution - Missense Thyroid COSM107398 SETD1A c.929C>T p.S310F Substitution - Missense Skin COSM87075 TET2 c.688_689delCT p.L230fs*23 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM88765 CREBBP c.3702T>G p.Y1234* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM97042 ASXL1 c.2898_2900delAGG p.G967del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM125341 PHF3 c.3299C>G p.S1100C Substitution - Missense Upper_aerodigestive_tract COSM117819 NIPBL c.4937A>G p.D1646G Substitution - Missense Ovary COSM145114 ASXL1 c.1552G>T p.E518* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41706 TET2 c.4354C>T p.R1452* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM243234 BRD9 c.152A>G p.D51G Substitution - Missense Endometrium COSM245966 NCOA3 c.3756G>A p.Q1252Q Substitution - coding silent Prostate COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Large_intestine COSM280823 EPC1 c.721C>A p.L241I Substitution - Missense Large_intestine COSM276730 PHF8 c.2130C>T p.T710T Substitution - coding silent Large_intestine COSM272763 HDAC9 c.2412C>T p.T804T Substitution - coding silent Large_intestine COSM299080 BRPF3 c.2952C>T p.S984S Substitution - coding silent Large_intestine COSM297202 PRDM2 c.4459delA p.V1490fs*74 Deletion - Frameshift Stomach COSM352636 NCOR1 c.6149C>A p.T2050K Substitution - Missense Lung COSM346449 CREBBP c.3452G>T p.W1151L Substitution - Missense Lung COSM357339 SMARCC1 c.772A>G p.I258V Substitution - Missense Lung COSM374100 KMT2D c.2766A>T p.T922T Substitution - coding silent Lung COSM383874 CREBBP c.5603G>T p.R1868L Substitution - Missense Lung COSM399720 CHD9 c.5161G>A p.E1721K Substitution - Missense Lung COSM438018 AP001011.3_ENST00000320876 c.1483C>T p.P495S Substitution - Missense Breast COSM474096 DNMT1 c.2088G>A p.M696I Substitution - Missense Kidney COSM980587 CBX1 c.115C>T p.L39F Substitution - Missense Endometrium COSM485794 TRRAP c.10339G>C p.A3447P Substitution - Missense Kidney COSM480330 PBRM1 c.3154C>T p.R1052* Substitution - Nonsense Kidney COSM2270981 ASXL1 c.3110G>A p.W1037* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1021316 MSH6 c.3992G>A p.R1331Q Substitution - Missense Endometrium COSM742766 TDRD6 c.2264G>T p.C755F Substitution - Missense Lung COSM738293 PRDM9 c.79G>T p.A27S Substitution - Missense Lung COSM907741 ARID1A c.5431delA p.K1811fs*4 Deletion - Frameshift Endometrium COSM1061363 KDM3B c.4433G>T p.G1478V Substitution - Missense Endometrium COSM1121585 KDM6A c.2019C>T p.G673G Substitution - coding silent Endometrium COSM1081868 PHIP c.1330A>C p.N444H Substitution - Missense Endometrium COSM1079881 TDRD6 c.726C>A p.F242L Substitution - Missense Endometrium COSM1084046 PHF14 c.1070G>T p.S357I Substitution - Missense Endometrium COSM1180830 CTCF c.603_604insA p.T204fs*26 Insertion - Frameshift Large_intestine COSM1180905 HDAC4 c.2703delC p.M902fs*55 Deletion - Frameshift Large_intestine COSM1187549 CHD7 c.1922A>T p.K641I Substitution - Missense Lung COSM1604171 KMT2A c.9182A>G p.N3061S Substitution - Missense Liver COSM1313189 ACTB c.1043C>T p.S348L Substitution - Missense Urinary_tract COSM1303977 SMARCA4 c.3099G>C p.K1033N Substitution - Missense Urinary_tract COSM1299798 CHD4 c.3895G>C p.E1299Q Substitution - Missense Urinary_tract COSM1297084 PWWP2B c.703G>A p.E235K Substitution - Missense Urinary_tract COSM1416319 CBX7 c.663C>A p.T221T Substitution - coding silent Large_intestine COSM1449328 SMARCD3 c.740C>T p.P247L Substitution - Missense Large_intestine COSM1342112 ZMYM1 c.1510delA p.T506fs*15 Deletion - Frameshift Large_intestine COSM1344511 RERE c.3898C>T p.R1300C Substitution - Missense Large_intestine COSM1357125 RSF1 c.2004C>A p.T668T Substitution - coding silent Large_intestine COSM1341431 ARID1A c.6472C>A p.R2158R Substitution - coding silent Skin COSM1568249 PHIP c.1153C>T p.R385C Substitution - Missense Stomach COSM1617221 TBL1XR1 c.585A>G p.I195M Substitution - Missense Liver COSM1627079 KDM4A c.2362G>T p.A788S Substitution - Missense Liver COSM1684400 BAHD1 c.740delC p.P247fs*54 Deletion - Frameshift Lung COSM1668050 LMNA c.1901G>T p.G634V Substitution - Missense Large_intestine COSM1703066 TDRD1 c.175G>A p.E59K Substitution - Missense Skin COSM1753245 DHX30 c.2550G>A p.E850E Substitution - coding silent Urinary_tract COSM1756581 PHF16 c.1255G>A p.E419K Substitution - Missense Urinary_tract COSM2007094 KMT2D c.6276_6278delTCC p.P2093delP Deletion - In frame Stomach COSM2099790 YEATS4 c.427-8C>T p.? Unknown Skin COSM2754058 KDM4B c.670G>T p.A224S Substitution - Missense Large_intestine COSM2879333 CXXC1 c.598C>T p.R200W Substitution - Missense Large_intestine COSM2965306 KDM6A c.447A>T p.A149A Substitution - coding silent Upper_aerodigestive_tract COSM2961703 MYST3 c.3162C>T p.S1054S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3153099 EP300 c.1443G>A p.P481P Substitution - coding silent Cervix COSM3388486 L3MBTL4 c.786T>A p.G262G Substitution - coding silent Pancreas COSM3386884 TP53BP1 c.959C>G p.S320C Substitution - Missense Pancreas COSM3376315 BAZ2A_ENST00000379441 c.4795C>T p.R1599W Substitution - Missense Pancreas COSM3479342 TDRD5 c.2700G>A p.V900V Substitution - coding silent Skin COSM3422186 SETBP1 c.4392C>T p.F1464F Substitution - coding silent Large_intestine COSM3431094 PHF14 c.941A>C p.Q314P Substitution - Missense Large_intestine COSM3463396 SMARCC2 c.1341C>G p.P447P Substitution - coding silent Skin COSM3466207 AICDA c.197C>T p.S66L Substitution - Missense Skin COSM3472819 PRDM2 c.681C>T p.L227L Substitution - coding silent Skin COSM3547332 EYA2 c.524C>T p.P175L Substitution - Missense Skin COSM3523216 KDM6B c.2600C>T p.S867L Substitution - Missense Skin COSM3521177 BPTF c.2308C>T p.H770Y Substitution - Missense Skin COSM3688228 KMT2D c.11903G>A p.R3968H Substitution - Missense Large_intestine COSM3712764 DNMT1 c.2813G>T p.G938V Substitution - Missense Upper_aerodigestive_tract COSM3759441 SCML2 c.342C>T p.D114D Substitution - coding silent Large_intestine COSM3778211 EZH2 c.1547-1G>C p.? Unknown Urinary_tract COSM3935784 SETD1B c.1402G>C p.E468Q Substitution - Missense Oesophagus COSM3848333 TAF1L c.3412C>T p.R1138C Substitution - Missense Breast COSM3820880 CHD3 c.4417A>C p.T1473P Substitution - Missense Breast COSM3883756 TRRAP c.7789G>A p.V2597I Substitution - Missense Large_intestine COSM3879535 KMT2C c.10192C>T p.R3398W Substitution - Missense Stomach COSM3960333 KDM4B c.1850G>T p.R617L Substitution - Missense Lung COSM3965009 RBBP7 c.184C>T p.L62F Substitution - Missense Lung COSM4022223 POGZ c.3201C>A p.I1067I Substitution - coding silent Stomach COSM4011751 TDRD1 c.2813T>C p.V938A Substitution - Missense Stomach COSM3984934 ARID1A c.1483C>T p.H495Y Substitution - Missense Kidney COSM4115541 FXR1 c.1307G>A p.R436H Substitution - Missense Stomach COSM4136882 ACTR5 c.991C>T p.Q331* Substitution - Nonsense Ovary COSM4150746 CHD8 c.87A>T p.T29T Substitution - coding silent Kidney COSM4162014 KMT2C c.2534G>A p.G845E Substitution - Missense Lung COSM4161255 TDRD6 c.599T>G p.V200G Substitution - Missense Upper_aerodigestive_tract COSM4169922 CHD1 c.4562T>C p.V1521A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4383943 TET2 c.4177A>G p.T1393A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4385260 EP300 c.4585C>T p.R1529* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4393344 KAT6B c.1648A>T p.I550F Substitution - Missense Prostate COSM4408513 CHD8 c.3898A>G p.K1300E Substitution - Missense Oesophagus COSM4601579 NIPBL c.2171C>G p.T724S Substitution - Missense Upper_aerodigestive_tract COSM4418379 ACTR5 c.816T>C p.N272N Substitution - coding silent Biliary_tract COSM4444841 BRWD1 c.3848C>T p.A1283V Substitution - Missense Large_intestine COSM4566800 MYST3 c.4763_4764CC>TT p.S1588F Substitution - Missense Skin COSM4517118 MECOM c.2249_2250GG>AA p.R750Q Substitution - Missense Skin COSM4564703 CDYL2 c.1376_1377CC>TT p.S459F Substitution - Missense Skin COSM4593689 TRIM33 c.1136C>G p.S379C Substitution - Missense Upper_aerodigestive_tract COSM4457865 ZMYM1 c.1062C>T p.T354T Substitution - coding silent Skin COSM4461523 KDM4D c.120C>T p.S40S Substitution - coding silent Skin COSM4447843 BAHCC1 c.3311_3312GG>AA p.G1104E Substitution - Missense Skin COSM4720587 RBBP7 c.212C>T p.T71M Substitution - Missense Large_intestine COSM4695482 KIAA1045 c.1187T>C p.L396P Substitution - Missense Large_intestine COSM4705972 NCOA6 c.3581G>A p.G1194D Substitution - Missense Large_intestine COSM4665178 BAP1 c.1074G>A p.P358P Substitution - coding silent Large_intestine COSM4669583 CBX7 c.105G>A p.W35* Substitution - Nonsense Large_intestine COSM4634034 IDH2 c.963C>A p.A321A Substitution - coding silent Large_intestine COSM4619974 RSF1 c.1705A>C p.K569Q Substitution - Missense Large_intestine COSM4773244 PHF12 c.2944G>T p.G982W Substitution - Missense Stomach COSM4749928 SMARCA4 c.1121T>C p.L374P Substitution - Missense Stomach COSM4788085 CREBBP c.4414T>A p.W1472R Substitution - Missense Liver COSM4883259 TDG c.177A>G p.K59K Substitution - coding silent Upper_aerodigestive_tract COSM4920744 BAHCC1 c.4959G>T p.V1653V Substitution - coding silent Liver COSM4929588 PRDM15 c.4053C>T p.T1351T Substitution - coding silent Liver COSM4952125 MEAF6 c.30G>T p.P10P Substitution - coding silent Liver COSM4981001 CHD1 c.4108-1G>A p.? Unknown Oesophagus COSM4980204 PRDM14 c.325A>T p.R109W Substitution - Missense Oesophagus COSM5024996 KMT2D c.12439C>T p.Q4147* Substitution - Nonsense Breast COSM5051598 HDAC7 c.2082G>T p.Q694H Substitution - Missense Stomach COSM5347472 GTF3C1 c.2739_2755del17 p.L914fs*70 Deletion - Frameshift Liver COSM5373089 MTA2 c.1444C>T p.P482S Substitution - Missense Skin COSM5357619 PRDM13 c.1358G>A p.S453N Substitution - Missense Large_intestine COSM5450657 PHF8 c.124G>A p.A42T Substitution - Missense Large_intestine COSM5452886 EP300 c.1155C>T p.G385G Substitution - coding silent Large_intestine COSM5452550 BRPF1 c.124C>G p.L42V Substitution - Missense Large_intestine COSM5450362 SMARCD3 c.782G>T p.G261V Substitution - Missense Large_intestine COSM5638922 BPTF c.4914C>T p.P1638P Substitution - coding silent Oesophagus COSM5584537 BAZ2A_ENST00000379441 c.2850A>G p.V950V Substitution - coding silent Skin COSM5658901 HDAC9 c.1077G>T p.Q359H Substitution - Missense Soft_tissue COSM5678248 PRDM5 c.1288A>G p.R430G Substitution - Missense Soft_tissue COSM5568940 TTF2 c.2648G>A p.S883N Substitution - Missense Prostate COSM5569481 CCDC101 c.666G>A p.T222T Substitution - coding silent Prostate COSM5550858 KDM6A c.3491G>C p.C1164S Substitution - Missense Prostate COSM5878943 TET2 c.1190_1192delCAC p.P401delP Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM5811832 RNF17 c.1105G>A p.V369I Substitution - Missense Liver COSM5941289 KMT2C c.2291C>T p.S764F Substitution - Missense Skin COSM5990041 ASXL1 c.1991_1992insC p.S665fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5990096 TET2 c.3919delA p.R1307fs*56 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5999985 ALKBH3 c.748G>T p.A250S Substitution - Missense Prostate COSM6002697 PHF12 c.2606A>G p.Y869C Substitution - Missense Prostate COSM6001789 BAHD1 c.463C>T p.R155C Substitution - Missense Prostate COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5031028 KMT2D c.? p.? Substitution - Nonsense Central_nervous_system COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41887 TET2 c.? p.G1913D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM1738036 ASXL1 c.? p.W1037fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM144708 PHF6 c.? p.C215Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4022817 TDRD10 c.601A>G p.T201A Substitution - Missense Stomach COSM5651050 CHD3 c.155G>A p.R52Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5507958 PHF8 c.2849C>T p.A950V Substitution - Missense Biliary_tract COSM4788319 GABRG1 c.302C>A p.P101Q Substitution - Missense Liver COSM970612 CREBBP c.775G>A p.A259T Substitution - Missense Endometrium COSM4672118 CHD9 c.5386A>G p.N1796D Substitution - Missense Large_intestine COSM4163941 KIAA2026_ENST00000399933 c.1815T>C p.L605L Substitution - coding silent Thyroid COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM4608102 ATRX c.1873G>T p.E625* Substitution - Nonsense Adrenal_gland COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM5548899 ARID2 c.5318C>T p.A1773V Substitution - Missense Prostate COSM69799 BAZ1B c.647A>T p.K216I Substitution - Missense Ovary COSM25334 SUV39H2 c.967G>C p.D323H Substitution - Missense Breast COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM976134 RAI1 c.5398G>A p.D1800N Substitution - Missense Endometrium COSM5920274 SIRT3 c.371C>T p.S124F Substitution - Missense Skin COSM36248 IDH1 c.? p.R132? Substitution - Missense Bone COSM132896 TET2 c.(3136_3138)insA p.?fs Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5918714 NSD1 c.1114C>T p.P372S Substitution - Missense Skin COSM4746405 TDG c.1091T>89 p.I364fs*5 Unknown Central_nervous_system COSM4639004 KDM6B c.2287G>A p.A763T Substitution - Missense Large_intestine COSM84061 RAG2 c.814G>T p.V272F Substitution - Missense Pancreas COSM4398939 SUV420H1 c.435G>A p.K145K Substitution - coding silent Skin COSM4720572 RBBP4 c.783T>C p.N261N Substitution - coding silent Large_intestine COSM136343 SETD2 c.4172C>T p.S1391F Substitution - Missense Skin COSM4147408 CHD4 c.1006A>C p.T336P Substitution - Missense Oesophagus COSM144540 TET2 c.1909_1911GAA>AT p.E637fs*2 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM5408356 TRRAP c.4604C>T p.P1535L Substitution - Missense Skin COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Soft_tissue COSM1087572 KMT2C c.7513A>G p.I2505V Substitution - Missense Endometrium COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Central_nervous_system COSM937155 EP400 c.3025G>A p.E1009K Substitution - Missense Endometrium COSM1416941 BRD1 c.456C>T p.N152N Substitution - coding silent Large_intestine COSM133010 ARID1A c.879_880insC p.T294fs*106 Insertion - Frameshift Stomach COSM3445289 PRDM10 c.3033C>T p.L1011L Substitution - coding silent Skin COSM2145420 ERCC6 c.4010C>A p.S1337Y Substitution - Missense Large_intestine COSM3685189 ACTB c.124-1G>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5064568 RBBP7 c.590A>G p.D197G Substitution - Missense Stomach COSM4491149 CREBBP c.3759C>T p.D1253D Substitution - coding silent Skin COSM3733523 NCOR1 c.14G>T p.G5V Substitution - Missense Upper_aerodigestive_tract COSM4140337 BRD4 c.1240G>C p.D414H Substitution - Missense Ovary COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4951497 KDM4A c.2375G>C p.R792T Substitution - Missense Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Breast COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4685917 FXR1 c.1276G>T p.G426* Substitution - Nonsense Large_intestine COSM1716595 TET2 c.4572_4572G>CT p.Q1524fs*54 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM5945806 BAP1 c.? p.M80fs*45 Frameshift Pericardium COSM1045694 DHX30 c.2495C>T p.A832V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3356290 HNF1A c.348G>A p.A116A Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3879541 KMT2C c.9521A>T p.D3174V Substitution - Missense Stomach COSM4160047 BRD9 c.902T>C p.V301A Substitution - Missense Stomach COSM3814732 BAZ1A c.36G>A p.Q12Q Substitution - coding silent Breast COSM5623249 ACTL6A c.1074G>C p.Q358H Substitution - Missense Oesophagus COSM4528616 CHD8 c.1551G>A p.K517K Substitution - coding silent Skin COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM3589887 MECOM c.899C>T p.S300F Substitution - Missense Skin COSM42028 TET2 c.3640C>T p.R1214W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5016655 NCOA6 c.4066_4067insA p.L1356fs*37 Insertion - Frameshift Kidney COSM5494219 EP300 c.123C>T p.H41H Substitution - coding silent Biliary_tract COSM4500045 KMT2C c.5566C>T p.P1856S Substitution - Missense Skin COSM4440022 KDM3B c.3946delC p.P1317fs*10 Deletion - Frameshift Large_intestine COSM1746864 ATF7IP c.3198T>A p.T1066T Substitution - coding silent Urinary_tract COSM485093 KMT2C c.5641G>C p.V1881L Substitution - Missense Kidney COSM5574174 ARID1A c.4344_4345insT p.G1449fs*42 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM144612 KMT2D c.11152C>T p.Q3718* Substitution - Nonsense Stomach COSM4597262 KMT2D c.7216G>C p.E2406Q Substitution - Missense Upper_aerodigestive_tract COSM4430155 KMT2D c.14098G>A p.E4700K Substitution - Missense Oesophagus COSM1063507 HDAC3 c.295G>A p.G99R Substitution - Missense Endometrium COSM4094350 CAMKMT c.188G>C p.R63T Substitution - Missense Stomach COSM3985427 TDRD1 c.2382A>T p.K794N Substitution - Missense Kidney COSM1728803 BPTF c.3514A>G p.I1172V Substitution - Missense Liver COSM2183882 TDRKH c.433G>A p.E145K Substitution - Missense Large_intestine COSM4093273 DNMT3A c.75C>T p.D25D Substitution - coding silent Stomach COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Prostate COSM292094 SMARCB1 c.836T>G p.F279C Substitution - Missense Large_intestine COSM255769 MYST3 c.2965_2967delGAG p.E993delE Deletion - In frame Central_nervous_system COSM23400 MEN1 c.? p.V121D Substitution - Missense Parathyroid COSM43502 TET2 c.2671C>T p.Q891* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4717490 PRDM16 c.2018C>A p.S673* Substitution - Nonsense Large_intestine COSM87001 DNMT3A c.2644C>A p.R882S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3691026 GLYR1 c.932C>G p.A311G Substitution - Missense Kidney COSM1945452 PRDM4 c.2098C>T p.R700C Substitution - Missense Stomach COSM4964777 PHIP c.2426C>T p.S809L Substitution - Missense Pancreas COSM1603627 JMJD1C c.1000T>G p.F334V Substitution - Missense Liver COSM3069037 SETD2 c.2710delA p.R904fs*5 Deletion - Frameshift Large_intestine COSM5833447 CBX2 c.977_978insC p.H329fs*84 Insertion - Frameshift Breast COSM21484 HNF1A c.495G>T p.W165C Substitution - Missense Liver COSM3998512 PHRF1 c.3894G>A p.P1298P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5055718 BPTF c.6643G>A p.A2215T Substitution - Missense Stomach COSM5697458 BAZ2A c.2037G>C p.S679S Substitution - coding silent Soft_tissue COSM4570289 ATAD2 c.2538T>C p.I846I Substitution - coding silent Skin COSM1122971 KDM5C c.690T>C p.N230N Substitution - coding silent Endometrium COSM681945 RERE c.4477C>A p.P1493T Substitution - Missense Lung COSM1158009 HDAC9 c.1103C>T p.P368L Substitution - Missense Pancreas COSM3912236 AIRE c.838C>T p.P280S Substitution - Missense Skin COSM1732139 PBRM1 c.3222delA p.K1074fs*85 Deletion - Frameshift Kidney COSM1360184 EP400 c.7872T>C p.P2624P Substitution - coding silent Stomach COSM3520815 SMARCD2 c.162C>T p.T54T Substitution - coding silent Skin COSM4471906 KMT2D c.1748C>T p.P583L Substitution - Missense Skin COSM4616112 CHD7 c.7658_7660delCAA p.T2554delT Deletion - In frame Large_intestine COSM88090 KMT2D c.15691C>T p.R5231* Substitution - Nonsense Breast COSM1242400 KAT2B c.2011delA p.K672fs*2 Deletion - Frameshift Oesophagus COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1615723 ADNP c.2291A>G p.Y764C Substitution - Missense Liver COSM5693438 GTF3C1 c.3908C>T p.A1303V Substitution - Missense Soft_tissue COSM1238674 DIDO1 c.1698C>T p.L566L Substitution - coding silent Oesophagus COSM3755553 KAT2A c.1308C>T p.L436L Substitution - coding silent Large_intestine COSM926920 ALKBH3 c.750G>A p.A250A Substitution - coding silent Endometrium COSM3717738 CHD3 c.1495C>T p.R499* Substitution - Nonsense Liver COSM5808613 NCOA2 c.697T>A p.S233T Substitution - Missense Liver COSM5031073 KMT2D c.14837A>C p.Y4946S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3741960 SETD6 c.823T>C p.F275L Substitution - Missense Liver COSM1296224 ARID1A c.3598C>T p.Q1200* Substitution - Nonsense Pancreas COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM711536 SIRT2 c.529G>T p.G177W Substitution - Missense Lung COSM457733 SMC1A c.2275G>C p.E759Q Substitution - Missense Breast COSM4119790 ATXN7 c.552A>G p.S184S Substitution - coding silent Stomach COSM3768326 STK31 c.291A>G p.R97R Substitution - coding silent Liver COSM1103 SMARCB1 c.?_?del? p.?del Deletion - In frame Soft_tissue COSM3370508 CTCF c.1779G>C p.K593N Substitution - Missense Thyroid COSM5716801 L3MBTL3 c.1750C>T p.P584S Substitution - Missense Skin COSM36166 ASXL1 c.1772_1773insA p.Y591fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3567462 MBD5 c.3792C>T p.F1264F Substitution - coding silent Skin COSM3619169 PRDM1 c.312C>T p.S104S Substitution - coding silent Skin COSM3981068 JMJD1C c.3481G>C p.V1161L Substitution - Missense Ovary COSM1433373 KDM3B c.1554C>A p.D518E Substitution - Missense Large_intestine COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM78353 PRMT1 c.448C>T p.L150F Substitution - Missense Ovary COSM5611082 TRRAP c.100C>T p.P34S Substitution - Missense Skin COSM4166532 TET2 c.? p.C1298T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM21124 STK31 c.2578G>T p.V860L Substitution - Missense Lung COSM1419552 ZBTB38 c.1219C>T p.R407C Substitution - Missense Large_intestine COSM1640448 CCDC101 c.19G>A p.D7N Substitution - Missense Stomach COSM3059445 RUVBL1 c.1010T>C p.V337A Substitution - Missense Large_intestine COSM3493339 BRDT c.2462C>T p.S821F Substitution - Missense Skin COSM289706 KDM5A c.3715C>T p.R1239W Substitution - Missense Oesophagus COSM3236546 HCFC1 c.2663C>T p.P888L Substitution - Missense Skin COSM4610837 PRMT6 c.914_916delAGG p.E307delE Deletion - In frame Large_intestine COSM3048238 SP110 c.1531G>A p.A511T Substitution - Missense Stomach COSM4414868 KMT2C c.11436G>T p.E3812D Substitution - Missense Kidney COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1341426 ARID1A c.5542delG p.D1850fs*33 Deletion - Frameshift Endometrium COSM1568250 PHIP c.2585A>G p.N862S Substitution - Missense Large_intestine COSM96345 DNMT3A c.?_?del? p.P264fs*? Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM975872 NCOR1 c.4436C>T p.T1479I Substitution - Missense Endometrium COSM681093 PRDM16 c.740G>T p.R247L Substitution - Missense Lung COSM4694071 MYST2 c.1708G>A p.G570R Substitution - Missense Large_intestine COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5562530 TAF1L c.1425C>G p.P475P Substitution - coding silent Prostate COSM1091559 BAZ1B c.3167G>A p.R1056H Substitution - Missense Large_intestine COSM1283296 ADNP c.2030C>T p.A677V Substitution - Missense Autonomic_ganglia COSM5600552 SP110 c.733C>T p.P245S Substitution - Missense Skin COSM5758709 KMT2C c.10442A>G p.Q3481R Substitution - Missense Bone COSM4153885 JHDM1D c.356C>T p.T119I Substitution - Missense Ovary COSM5020002 SETBP1 c.4234C>A p.R1412R Substitution - coding silent Soft_tissue COSM5482112 HDAC9 c.2803+7A>G p.? Unknown Large_intestine COSM284933 SFMBT2 c.1558+1G>A p.? Unknown Large_intestine COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM376063 BRWD1 c.5243C>T p.T1748I Substitution - Missense Lung COSM5980254 PHC1 c.2517_2518insA p.M842fs*23 Insertion - Frameshift Upper_aerodigestive_tract COSM382743 MEAF6 c.278C>T p.S93L Substitution - Missense Prostate COSM4048180 TDRD3 c.77T>C p.L26P Substitution - Missense Stomach COSM4669580 CBX7 c.418C>T p.R140C Substitution - Missense Large_intestine COSM5392547 DIDO1 c.4296C>T p.T1432T Substitution - coding silent Skin COSM3361280 UBR7 c.352G>A p.A118T Substitution - Missense Kidney COSM1125867 BRWD3 c.1635T>C p.S545S Substitution - coding silent Endometrium COSM2781066 ACTR8 c.1185C>T p.P395P Substitution - coding silent Stomach COSM1735849 ATRX c.334delT p.S112fs*15 Deletion - Frameshift Central_nervous_system COSM3935381 PRDM10 c.1561A>G p.K521E Substitution - Missense Oesophagus COSM4169930 CTCF c.1041C>A p.H347Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1019153 NCOA1 c.2274A>C p.K758N Substitution - Missense Endometrium COSM424057 ASH1L c.8331C>T p.I2777I Substitution - coding silent Breast COSM4591901 NCOR1 c.618+6T>A p.? Unknown Upper_aerodigestive_tract COSM1331609 SMARCA2 c.2028G>A p.Q676Q Substitution - coding silent Ovary COSM5928984 SND1 c.973A>T p.I325L Substitution - Missense Skin COSM5947981 SMC1A c.3178G>T p.E1060* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM232797 KMT2C c.10861G>A p.A3621T Substitution - Missense Skin COSM20478 TRRAP c.4952G>A p.R1651H Substitution - Missense Large_intestine COSM1453231 TRRAP c.10913C>T p.T3638M Substitution - Missense Large_intestine COSM3949285 CDYL c.19C>T p.H7Y Substitution - Missense Lung COSM5420240 KMT2C c.13290G>T p.L4430F Substitution - Missense Pancreas COSM5559608 KDM6B c.1375C>A p.L459I Substitution - Missense Prostate COSM1704225 MEN1 c.640G>A p.G214S Substitution - Missense Skin COSM1667286 ARID1A c.1683G>C p.Q561H Substitution - Missense Large_intestine COSM4385427 ATRX c.2467A>T p.K823* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1179427 CHD1 c.3662T>G p.L1221* Substitution - Nonsense Prostate COSM4060709 CREBBP c.4212C>T p.G1404G Substitution - coding silent Stomach COSM352257 TAF1L c.1853G>C p.W618S Substitution - Missense Lung COSM1296949 TDRD1 c.649G>A p.E217K Substitution - Missense Urinary_tract COSM371330 CHD3 c.700A>C p.I234L Substitution - Missense Lung COSM5229914 JHDM1D c.914delA p.K305fs*17 Deletion - Frameshift Breast COSM1600689 PRDM2 c.4324C>T p.Q1442* Substitution - Nonsense Liver COSM4394724 PBRM1 c.1514C>T p.S505F Substitution - Missense Skin COSM3967936 TDG c.478+1G>T p.? Unknown Central_nervous_system COSM4927159 CHD9 c.7868T>C p.V2623A Substitution - Missense Liver COSM3912058 SETD4 c.373C>T p.L125F Substitution - Missense Skin COSM5495845 ARID1B c.5554G>C p.E1852Q Substitution - Missense Biliary_tract COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM364258 SFMBT2 c.1671_1672GG>TT p.P557>? Complex Lung COSM5547437 KAT2B c.1510delA p.N504fs*9 Deletion - Frameshift Prostate COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM138896 PRDM4 c.1157C>T p.S386L Substitution - Missense Skin COSM4058023 CHD2 c.1403T>C p.V468A Substitution - Missense Stomach COSM4731986 TAF1L c.2054G>A p.R685H Substitution - Missense Large_intestine COSM3826846 KDM3B c.3981G>C p.K1327N Substitution - Missense Breast COSM3984131 TTF2 c.2515A>T p.K839* Substitution - Nonsense Kidney COSM289293 MSH6 c.2935C>G p.L979V Substitution - Missense Large_intestine COSM416941 MGA c.5650+1G>T p.? Unknown Urinary_tract COSM117869 ARID2 c.3430C>T p.P1144S Substitution - Missense Ovary COSM167184 NCOR1 c.5381G>A p.R1794Q Substitution - Missense Endometrium COSM3660906 SMARCA5 c.1595A>G p.Q532R Substitution - Missense Liver COSM4714185 PHRF1 c.4653G>A p.A1551A Substitution - coding silent Large_intestine COSM1049761 TET2 c.4269C>A p.V1423V Substitution - coding silent Endometrium COSM343032 SETD2 c.4736C>T p.S1579L Substitution - Missense Lung COSM2006685 KMT2D c.14112C>T p.S4704S Substitution - coding silent Large_intestine COSM4042340 KMT2D c.13692A>T p.E4564D Substitution - Missense Stomach COSM3409565 PRDM8 c.585C>T p.G195G Substitution - coding silent Central_nervous_system COSM5720885 HDAC9 c.1162G>A p.G388R Substitution - Missense Skin COSM1734519 TP53BP1 c.5030G>A p.R1677Q Substitution - Missense Pancreas COSM1570295 EZH2 c.933_933T>GGCATA p.Y311fs*1 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM249799 DNMT3A c.990G>A p.W330* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5751217 EED c.184G>AG p.A62fs*26 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM3284071 MBD3 c.346A>G p.T116A Substitution - Missense Large_intestine COSM3623165 HDGFL1 c.265C>T p.Q89* Substitution - Nonsense Skin COSM1433176 PHF15 c.589G>A p.D197N Substitution - Missense Large_intestine COSM457598 HDAC6 c.3181G>A p.E1061K Substitution - Missense Breast COSM1615602 CHD6 c.1310A>G p.H437R Substitution - Missense Liver COSM4486923 PRDM9 c.311C>T p.P104L Substitution - Missense Skin COSM3636455 KMT2C c.13081A>T p.S4361C Substitution - Missense Skin COSM3668115 AP001011.3_ENST00000320876 c.1925A>T p.Y642F Substitution - Missense Liver COSM5456480 RTF1 c.961G>A p.E321K Substitution - Missense Large_intestine COSM320132 EP400 c.8156G>A p.R2719K Substitution - Missense Lung COSM2802572 KDM6B c.1018C>T p.R340C Substitution - Missense Large_intestine COSM22595 MEN1 c.850G>C p.A284P Substitution - Missense Parathyroid COSM4804589 UHRF2 c.621T>C p.V207V Substitution - coding silent Liver COSM4387424 BAP1 c.145_145delC p.L49fs*23 Deletion - Frameshift Eye COSM1621962 PHIP c.4643C>G p.S1548C Substitution - Missense Liver COSM4000327 CBX4 c.871T>C p.S291P Substitution - Missense Upper_aerodigestive_tract COSM4877342 TRRAP c.10959G>A p.A3653A Substitution - coding silent Prostate COSM3371645 ASXL1 c.2226G>C p.G742G Substitution - coding silent Thyroid COSM1028986 DIDO1 c.2176C>T p.R726C Substitution - Missense Skin COSM972480 CTCF c.935A>G p.H312R Substitution - Missense Endometrium COSM1738044 TET2 c.? p.L1046fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM3501110 MGA c.7035C>T p.F2345F Substitution - coding silent Skin COSM1735694 KMT2D c.? p.? Substitution - Missense Central_nervous_system COSM228051 MECOM c.20_21CC>TT p.P7>? Complex Skin COSM5948533 SMYD3 c.355G>A p.V119M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3932818 SMCHD1 c.466G>A p.V156I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1736796 ZBTB38 c.1003G>A p.A335T Substitution - Missense Central_nervous_system COSM4387296 ALKBH1 c.947A>G p.D316G Substitution - Missense Lung COSM1111300 PHF2 c.1981G>A p.A661T Substitution - Missense Endometrium COSM4645973 SMARCA4 c.2439A>C p.S813S Substitution - coding silent Large_intestine COSM5878835 DNMT3A c.1496_1502delGCCTCAA p.S499fs*150 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM268576 ACTR6 c.162C>A p.L54L Substitution - coding silent Large_intestine COSM1034990 PHF21B c.346G>A p.A116T Substitution - Missense Endometrium COSM4119177 PBRM1 c.182A>C p.K61T Substitution - Missense Stomach COSM4469929 AIRE c.1629C>T p.F543F Substitution - coding silent Skin COSM1296002 KDM1A c.599A>G p.Q200R Substitution - Missense Urinary_tract COSM3717729 KDM6B c.2068A>T p.I690F Substitution - Missense Liver COSM3697160 NSD1 c.6662A>G p.Y2221C Substitution - Missense Large_intestine COSM1302027 FTO c.1270G>C p.E424Q Substitution - Missense Urinary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4621649 DNMT3L c.581C>T p.S194F Substitution - Missense Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5509226 EP300 c.3345G>T p.W1115C Substitution - Missense Biliary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1009 SMARCB1 c.897G>A p.S299S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5945464 EP300 c.6889C>T p.Q2297* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM221144 KMT2D c.1574_1575delAG p.E525fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM279870 CHD2 c.3469G>T p.A1157S Substitution - Missense Large_intestine COSM3915400 TBL1XR1 c.528C>T p.A176A Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3555046 TCF20 c.4774C>T p.Q1592* Substitution - Nonsense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM370747 RNF17 c.1419C>T p.S473S Substitution - coding silent Lung COSM1329383 CHD1 c.2334G>C p.E778D Substitution - Missense Ovary COSM3479329 TDRD5 c.2401C>T p.L801F Substitution - Missense Skin COSM1436882 PRDM9 c.1075G>A p.D359N Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4817116 BAZ2B c.2162C>G p.S721C Substitution - Missense Cervix COSM3527173 L3MBTL4 c.427G>A p.E143K Substitution - Missense Skin COSM3659712 PHF2 c.397G>A p.D133N Substitution - Missense Skin COSM52863 PBRM1 c.835delA p.I279fs*4 Deletion - Frameshift Kidney COSM33732 IDH2 c.515G>T p.R172M Substitution - Missense Bone COSM33732 IDH2 c.515G>T p.R172M Substitution - Missense Central_nervous_system COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM4487595 ARID2 c.3208C>T p.P1070S Substitution - Missense Skin COSM1745388 PRDM16 c.3150_3154delCAGCG p.S1051fs*31 Deletion - Frameshift Urinary_tract COSM4411994 KDM4A c.806T>C p.I269T Substitution - Missense Oesophagus COSM5945460 EP300 c.4398G>A p.W1466* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4931930 SMARCC1 c.2870A>G p.Q957R Substitution - Missense Liver COSM4770758 EHMT2 c.3606delC p.G1203fs*>8 Deletion - Frameshift Pleura COSM464702 RAD54L c.44C>A p.P15H Substitution - Missense Kidney COSM87721 EED c.949G>A p.D317N Substitution - Missense Pancreas COSM1041419 TBL1XR1 c.497G>A p.R166Q Substitution - Missense Biliary_tract COSM3747343 FMR1 c.198+4A>G p.? Unknown Liver COSM110759 TET2 c.4015A>T p.K1339* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4569450 KDM3A c.1765T>C p.F589L Substitution - Missense Skin COSM732823 PRDM5 c.193G>T p.G65* Substitution - Nonsense Lung COSM5463965 PHF1 c.492G>A p.K164K Substitution - coding silent Large_intestine COSM5019110 MECOM c.2472G>A p.S824S Substitution - coding silent Soft_tissue COSM4664634 ATRX c.2278A>C p.N760H Substitution - Missense Large_intestine COSM1388391 SMCHD1 c.3050C>T p.S1017L Substitution - Missense Large_intestine COSM2931295 DIDO1 c.657C>T p.P219P Substitution - coding silent Skin COSM4104939 BRD1 c.1397T>C p.I466T Substitution - Missense Stomach COSM3979166 KMT2A c.4246G>T p.E1416* Substitution - Nonsense Lung COSM24933 HNF1A c.815G>A p.R272H Substitution - Missense Liver COSM34039 IDH2 c.514A>T p.R172W Substitution - Missense Central_nervous_system COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Skin COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Parathyroid COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43393 SETD2 c.4885_4885delC p.R1629fs*15 Deletion - Frameshift Kidney COSM69054 CREBBP c.2509_2515delGGGCCTC p.G837fs*10 Deletion - Frameshift Ovary COSM94275 KDM2A c.2334C>A p.N778K Substitution - Missense Lung COSM87302 IKZF1 c.308_309ins23 p.R111fs*15 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM87960 KMT2C c.7825C>T p.R2609* Substitution - Nonsense Large_intestine COSM124458 KMT2C c.121C>T p.R41C Substitution - Missense Skin COSM127177 PRDM12 c.224-2A>T p.? Unknown Upper_aerodigestive_tract COSM133672 IDH2 c.516G>C p.R172S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM211666 TET2 c.1960C>T p.Q654* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM211741 TET2 c.4910_4911ins52 p.S1638fs*40 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM254833 MYST1 c.419G>A p.R140H Substitution - Missense Stomach COSM257414 KMT2A c.9886T>C p.F3296L Substitution - Missense Large_intestine COSM344274 CHD8 c.6858G>T p.K2286N Substitution - Missense Lung COSM366811 CXXC1 c.99A>C p.K33N Substitution - Missense Lung COSM363470 PHF8 c.1092T>G p.F364L Substitution - Missense Lung COSM378428 PRDM9 c.2408C>A p.P803H Substitution - Missense Lung COSM376914 KMT2C c.1004C>T p.P335L Substitution - Missense Lung COSM450264 PRDM1 c.1521C>A p.S507R Substitution - Missense Breast COSM445071 TCF20 c.2102C>T p.S701F Substitution - Missense Breast COSM455752 SMARCA2 c.1450C>G p.H484D Substitution - Missense Breast COSM458855 BMI1 c.742G>A p.E248K Substitution - Missense Large_intestine COSM456777 PHF6 c.347G>A p.R116Q Substitution - Missense Endometrium COSM467222 DPF2 c.129C>T p.D43D Substitution - coding silent Kidney COSM918660 ERCC6 c.2678C>A p.S893* Substitution - Nonsense Endometrium COSM1054437 WHSC1 c.2271C>T p.F757F Substitution - coding silent Endometrium COSM954442 CHD8 c.2827C>T p.R943C Substitution - Missense Endometrium COSM1047344 ACTR8 c.545T>A p.I182N Substitution - Missense Endometrium COSM1029174 ZGPAT c.896C>G p.S299C Substitution - Missense Endometrium COSM1026878 CHD6 c.2495G>A p.R832Q Substitution - Missense Endometrium COSM720947 ATAD2B_ENST00000238789 c.2718T>A p.F906L Substitution - Missense Lung COSM895004 PRDM2 c.1227G>A p.E409E Substitution - coding silent Endometrium COSM895012 PRDM2 c.2337C>T p.S779S Substitution - coding silent Endometrium COSM932192 RSF1 c.3820C>T p.R1274W Substitution - Missense Endometrium COSM1602140 ARID1A c.1351-2A>G p.? Unknown Liver COSM961509 MGA c.3463C>T p.R1155* Substitution - Nonsense Large_intestine COSM1118762 SCML2 c.1457-2A>T p.? Unknown Endometrium COSM1121607 KDM6A c.4028T>G p.F1343C Substitution - Missense Endometrium COSM1132079 CHD1 c.2699G>A p.R900Q Substitution - Missense Prostate COSM1100767 CHD7 c.258G>A p.P86P Substitution - coding silent Endometrium COSM1084093 PHF14 c.2734G>T p.G912* Substitution - Nonsense Endometrium COSM1236470 MYST1 c.666C>A p.S222R Substitution - Missense Autonomic_ganglia COSM1227876 STK31 c.2791A>C p.N931H Substitution - Missense Large_intestine COSM1263755 RAI1 c.2951C>T p.A984V Substitution - Missense Stomach COSM1305745 BAZ2B c.4506C>G p.N1502K Substitution - Missense Urinary_tract COSM1283499 ARID4A c.361G>C p.D121H Substitution - Missense Autonomic_ganglia COSM1333982 POGZ c.3695G>A p.R1232H Substitution - Missense Breast COSM42029 TET2 c.3646C>T p.R1216* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1390291 SMARCA4 c.4887T>C p.D1629D Substitution - coding silent Soft_tissue COSM1386949 CBX8 c.956delG p.G319fs*37 Deletion - Frameshift Soft_tissue COSM1381230 RAI1 c.1180C>T p.P394S Substitution - Missense Large_intestine COSM1348077 ERCC6 c.2030C>T p.P677L Substitution - Missense Large_intestine COSM1340885 SMYD3 c.700_701insA p.I234fs*2 Insertion - Frameshift Large_intestine COSM1362051 KMT2D c.3800A>G p.E1267G Substitution - Missense Large_intestine COSM1469217 TAF1 c.2097G>T p.K699N Substitution - Missense Large_intestine COSM1474644 ERCC6 c.3437G>C p.S1146T Substitution - Missense Breast COSM1469608 BRWD3 c.179T>C p.L60P Substitution - Missense Large_intestine COSM1495381 MBD4 c.1448A>T p.E483V Substitution - Missense Kidney COSM1611524 SMARCA4 c.1666C>T p.Q556* Substitution - Nonsense Liver COSM1578108 ARID1A c.5212G>A p.D1738N Substitution - Missense Urinary_tract COSM1623355 TRRAP c.3962G>T p.R1321M Substitution - Missense Liver COSM1623355 TRRAP c.3962G>T p.R1321M Substitution - Missense Liver COSM1689312 TDRD5 c.869G>A p.G290E Substitution - Missense Skin COSM1672540 PHF3 c.1475A>C p.K492T Substitution - Missense Large_intestine COSM1641012 L3MBTL4 c.324+1delG p.? Unknown Stomach COSM1681736 EYA2 c.893C>T p.T298I Substitution - Missense Large_intestine COSM1686178 ARID2 c.4039C>T p.Q1347* Substitution - Nonsense Skin COSM1658811 EP300 c.4880delG p.D1628fs*81 Deletion - Frameshift Salivary_gland COSM1716682 ATRX c.3345T>G p.Y1115* Substitution - Nonsense Central_nervous_system COSM42037 TET2 c.4210C>T p.R1404* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1724237 PRMT8 c.91T>C p.S31P Substitution - Missense Urinary_tract COSM2078160 RBBP4 c.872C>T p.T291I Substitution - Missense Large_intestine COSM2214930 RBBP5 c.1243C>A p.P415T Substitution - Missense Upper_aerodigestive_tract COSM2819107 PRDM15 c.2668G>A p.G890S Substitution - Missense Large_intestine COSM2835118 FTO c.931G>T p.A311S Substitution - Missense Large_intestine COSM2931186 DIDO1 c.1889G>A p.G630D Substitution - Missense Stomach COSM2961750 MYST3 c.699T>C p.C233C Substitution - coding silent Large_intestine COSM3153269 L3MBTL2 c.1159G>T p.G387C Substitution - Missense Large_intestine COSM3291735 CHD6 c.1477delA p.T493fs*13 Deletion - Frameshift Large_intestine COSM3386230 ORC1 c.1265A>G p.D422G Substitution - Missense Pancreas COSM3373308 SETD5_ENST00000402198 c.755C>T p.T252I Substitution - Missense Thyroid COSM3381815 TIF1 c.1413G>C p.Q471H Substitution - Missense Pancreas COSM3545256 ASXL1 c.2873C>T p.S958L Substitution - Missense Skin COSM3552571 SMARCB1 c.822C>T p.S274S Substitution - coding silent Skin COSM3521196 BPTF c.4943C>T p.S1648F Substitution - Missense Skin COSM3531881 LMNB2 c.1701G>A p.E567E Substitution - coding silent Skin COSM3654894 PRDM12 c.690C>T p.F230F Substitution - coding silent Skin COSM3686332 SHPRH c.4708-3delT p.? Unknown Large_intestine COSM3705781 PRDM16 c.456C>T p.G152G Substitution - coding silent Liver COSM3705781 PRDM16 c.456C>T p.G152G Substitution - coding silent Liver COSM3730217 SETBP1 c.2722G>A p.D908N Substitution - Missense Stomach COSM3729641 GTF3C1 c.1000A>G p.K334E Substitution - Missense Stomach COSM3736698 PRDM16 c.1939C>T p.P647S Substitution - Missense Skin COSM3763733 BRD3 c.1284C>T p.P428P Substitution - coding silent Large_intestine COSM3762469 EZH2 c.553G>C p.D185H Substitution - Missense Soft_tissue COSM3770826 ZMYND8 c.2013G>C p.T671T Substitution - coding silent Pancreas COSM3930094 KDM4C c.1773G>A p.A591A Substitution - coding silent Central_nervous_system COSM3820049 AKAP1 c.1502T>G p.V501G Substitution - Missense Breast COSM3873505 BRPF3 c.2520C>T p.P840P Substitution - coding silent Stomach COSM3878708 JHDM1D c.509T>G p.L170R Substitution - Missense Stomach COSM3958576 AKAP1 c.2205G>T p.A735A Substitution - coding silent Lung COSM4006370 EHMT2 c.1136C>G p.S379* Substitution - Nonsense Urinary_tract COSM4004949 TCF20 c.624A>C p.L208L Substitution - coding silent Urinary_tract COSM4038170 HCFC2 c.625T>C p.Y209H Substitution - Missense Stomach COSM4085345 MBD5 c.2605G>A p.V869I Substitution - Missense Stomach COSM4107997 HCFC1 c.232G>A p.E78K Substitution - Missense Stomach COSM4104160 CBX6 c.392G>A p.R131H Substitution - Missense Stomach COSM4104432 EP300 c.2241G>A p.P747P Substitution - coding silent Stomach COSM4110887 TAF1 c.1850G>A p.R617H Substitution - Missense Stomach COSM4119785 ATXN7 c.315T>C p.P105P Substitution - coding silent Stomach COSM4120585 SETD5_ENST00000402198 c.2163C>T p.C721C Substitution - coding silent Stomach COSM4124869 GABRG1 c.44G>A p.R15Q Substitution - Missense Pancreas COSM4075934 GATAD2A c.602G>A p.R201Q Substitution - Missense Stomach COSM4140040 AP001011.3_ENST00000320876 c.5255T>G p.V1752G Substitution - Missense Ovary COSM4387443 BAP1 c.1882_1885delTCAC p.S628fs*8 Deletion - Frameshift Eye COSM4598599 HDAC9 c.2670C>A p.Y890* Substitution - Nonsense Upper_aerodigestive_tract COSM4599362 PHRF1 c.3610C>T p.P1204S Substitution - Missense Upper_aerodigestive_tract COSM4500285 MINA c.561C>T p.I187I Substitution - coding silent Skin COSM4554343 BRWD1 c.6196G>T p.D2066Y Substitution - Missense Skin COSM4450626 MGA c.7497delG p.G2500fs*24 Deletion - Frameshift Skin COSM4463712 KMT2D c.12218C>T p.T4073I Substitution - Missense Skin COSM4466563 EP300 c.1441C>T p.P481S Substitution - Missense Skin COSM4421667 KDM3A c.2759C>G p.T920S Substitution - Missense Pleura COSM4681103 EP400 c.1503C>T p.D501D Substitution - coding silent Large_intestine COSM4674651 CREBBP c.2879C>T p.P960L Substitution - Missense Large_intestine COSM4689660 HDAC1 c.691G>A p.G231R Substitution - Missense Large_intestine COSM4607450 RERE c.4276C>A p.H1426N Substitution - Missense Adrenal_gland COSM4633452 TRIM66 c.1819A>T p.S607C Substitution - Missense Large_intestine COSM4611655 HDAC2 c.33delA p.V12fs*20 Deletion - Frameshift Large_intestine COSM4808562 SFMBT2 c.50C>T p.P17L Substitution - Missense Large_intestine COSM4883115 TCF20 c.5218A>T p.K1740* Substitution - Nonsense Upper_aerodigestive_tract COSM4853269 ADNP c.1612G>T p.E538* Substitution - Nonsense Cervix COSM4850307 JARID2 c.550G>A p.E184K Substitution - Missense Cervix COSM4956329 TAF1 c.598G>A p.A200T Substitution - Missense Liver COSM5012630 KDM2B c.1107A>T p.K369N Substitution - Missense Kidney COSM5011706 ARID1B c.4430G>A p.R1477H Substitution - Missense Kidney COSM5011708 ARID1B c.6001G>T p.V2001F Substitution - Missense Kidney COSM5016000 SETD2 c.399delT p.F133fs*6 Deletion - Frameshift Kidney COSM5009419 TRRAP c.8460G>A p.T2820T Substitution - coding silent Large_intestine COSM5057911 BRD1 c.472A>G p.M158V Substitution - Missense Stomach COSM5367678 PRDM9 c.508+5_508+6insA p.? Unknown Large_intestine COSM5498832 HDAC4 c.958G>A p.V320I Substitution - Missense Biliary_tract COSM5507901 CHD9 c.358G>C p.D120H Substitution - Missense Biliary_tract COSM5451260 ARID2 c.1307T>A p.I436N Substitution - Missense Large_intestine COSM5649726 SMARCA2 c.2348+1G>C p.? Unknown Oesophagus COSM5748960 ZMYM3 c.2206C>T p.R736C Substitution - Missense Pancreas COSM5734630 KDM2B c.2753A>G p.N918S Substitution - Missense Pancreas COSM5561772 CREBBP c.5450C>T p.P1817L Substitution - Missense Prostate COSM5571321 CBX8 c.1084G>T p.V362L Substitution - Missense Prostate COSM5773326 BAZ2B c.4712C>T p.T1571I Substitution - Missense Breast COSM5816335 PRMT5 c.352G>A p.G118S Substitution - Missense Liver COSM5909939 ATRX c.907G>A p.E303K Substitution - Missense Skin COSM5967043 KDM5A c.1703G>T p.R568L Substitution - Missense Pituitary COSM4167262 TET2 c.? p.G1235* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM85769 EZH2 c.? p.Y646? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM51384 IDH1 c.? p.R132L Substitution - Missense Biliary_tract COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4989871 SETD2 c.? p.L1022R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4169844 MEN1 c.? p.V58fs*60 Unknown Adrenal_gland COSM1087544 KMT2C c.10737A>G p.G3579G Substitution - coding silent Endometrium COSM5977830 RERE c.4147G>T p.G1383C Substitution - Missense Upper_aerodigestive_tract COSM4533006 SP140_ENST00000392045 c.1939G>A p.G647S Substitution - Missense Skin COSM122851 EP300 c.4195G>A p.D1399N Substitution - Missense Oesophagus COSM3661732 NSD1 c.7240T>G p.L2414V Substitution - Missense Liver COSM419984 SETD2 c.3376C>T p.H1126Y Substitution - Missense Kidney COSM4168279 PHF6 c.953delC p.S318fs*33 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4938998 ZMYM2 c.431C>T p.P144L Substitution - Missense Liver COSM4609614 HDAC2 c.1086G>C p.K362N Substitution - Missense Adrenal_gland COSM423127 PBRM1 c.3544delG p.V1182fs*36 Deletion - Frameshift Kidney COSM278138 WHSC1 c.1924G>A p.E642K Substitution - Missense Large_intestine COSM4146741 SETD1B c.578T>C p.L193P Substitution - Missense Thyroid COSM4456746 DHX30 c.101C>T p.T34I Substitution - Missense Skin COSM937185 EP400 c.7459G>A p.A2487T Substitution - Missense Endometrium COSM913247 BRDT c.2662G>T p.E888* Substitution - Nonsense Endometrium COSM3848638 KIAA2026_ENST00000399933 c.1779G>C p.R593S Substitution - Missense Breast COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Soft_tissue COSM1216854 NCOA2 c.3137C>T p.A1046V Substitution - Missense Large_intestine COSM4509446 ACTA1 c.807C>A p.I269I Substitution - coding silent Skin COSM4092779 HDAC4 c.1987C>G p.L663V Substitution - Missense Stomach COSM1023496 KDM3A c.1438C>T p.R480* Substitution - Nonsense Large_intestine COSM1351609 KMT2A c.2312delC p.P773fs*8 Deletion - Frameshift Large_intestine COSM1425791 BRPF1 c.175C>T p.R59C Substitution - Missense Large_intestine COSM280387 DIDO1 c.1412C>A p.A471D Substitution - Missense Large_intestine COSM4170167 TET2 c.1862delC p.Q622fs*17 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM25284 SMARCC1 c.1928A>T p.N643I Substitution - Missense Lung COSM3774458 ARID1A c.355G>A p.E119K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3690014 CHD8 c.7036G>A p.E2346K Substitution - Missense Large_intestine COSM41652 TET2 c.5999G>A p.R2000K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3848328 TAF1L c.4320C>T p.I1440I Substitution - coding silent Breast COSM5753355 PBRM1 c.? p.F684Y Substitution - Missense Kidney COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Biliary_tract COSM3733523 NCOR1 c.14G>T p.G5V Substitution - Missense Upper_aerodigestive_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5185666 MPHOSPH8 c.1467A>G p.S489S Substitution - coding silent Large_intestine COSM3712315 KAT2A c.1292G>T p.G431V Substitution - Missense Upper_aerodigestive_tract COSM107941 ZBTB4 c.2586A>T p.A862A Substitution - coding silent Skin COSM5060138 SETD7 c.764T>C p.V255A Substitution - Missense Stomach COSM5936800 KDM6A c.3052A>G p.K1018E Substitution - Missense Skin COSM4591407 DIDO1 c.4872G>C p.K1624N Substitution - Missense Upper_aerodigestive_tract COSM3551331 AIRE c.350C>T p.A117V Substitution - Missense Skin COSM945774 MPHOSPH8 c.2221C>T p.R741C Substitution - Missense Endometrium COSM4427012 NSD1 c.499G>C p.E167Q Substitution - Missense Oesophagus COSM4188339 SMARCA2 c.2851A>G p.K951E Substitution - Missense Kidney COSM5788715 WHSC1 c.2933C>G p.A978G Substitution - Missense Breast COSM740718 SHPRH c.3154G>A p.A1052T Substitution - Missense Lung COSM443950 NCOA3 c.1234C>G p.P412A Substitution - Missense Breast COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM5813040 BAZ1B c.4045G>T p.E1349* Substitution - Nonsense Liver COSM5015123 SMARCC2 c.2718T>G p.F906L Substitution - Missense Kidney COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM1300053 MPHOSPH8 c.2263C>G p.R755G Substitution - Missense Urinary_tract COSM3879555 KMT2C c.7857A>G p.L2619L Substitution - coding silent Stomach COSM4159839 PRDM9 c.2042C>G p.T681S Substitution - Missense Upper_aerodigestive_tract COSM907949 EYA3 c.1498G>T p.E500* Substitution - Nonsense Endometrium COSM1127690 MEN1 c.1355G>A p.R452Q Substitution - Missense Prostate COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Kidney COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Prostate COSM3460976 ARID2 c.3580C>T p.Q1194* Substitution - Nonsense Skin COSM908649 ZMYM1 c.3066C>T p.D1022D Substitution - coding silent Endometrium COSM4742986 ZMYND8 c.1982delC p.P661fs*8 Deletion - Frameshift Large_intestine COSM4689596 HCFC1 c.967G>A p.A323T Substitution - Missense Large_intestine COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5990554 NCOA3 c.3947-10delT p.? Unknown Liver COSM4956909 PHF8 c.2715G>T p.Q905H Substitution - Missense Liver COSM221128 KMT2D c.9985C>T p.Q3329* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM199532 PRDM13 c.161G>A p.G54E Substitution - Missense Endometrium COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3850182 PHF15 c.1804G>A p.A602T Substitution - Missense Stomach COSM3637073 HDAC9 c.2545G>A p.D849N Substitution - Missense Skin COSM43414 TET2 c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5880383 DAXX c.1457C>G p.A486G Substitution - Missense Soft_tissue COSM3458550 ATF7IP c.2562T>A p.S854R Substitution - Missense Skin COSM1623349 TRRAP c.1536A>C p.P512P Substitution - coding silent Liver COSM1449816 HDAC9 c.1041G>A p.S347S Substitution - coding silent Skin COSM1583077 DNMT3A c.1591G>A p.D531N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4617143 ASH1L c.4810A>G p.T1604A Substitution - Missense Large_intestine COSM4665208 BAZ1A c.2345A>G p.H782R Substitution - Missense Large_intestine COSM4170454 KMT2D c.1532C>G p.P511R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3463518 BAZ2A c.5155C>G p.R1719G Substitution - Missense Skin COSM231302 EP400 c.4246C>T p.R1416* Substitution - Nonsense Skin COSM5417404 RBBP5 c.986G>T p.W329L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2759374 PHF20 c.2516A>G p.H839R Substitution - Missense Large_intestine COSM1586693 CHD4 c.3570_3572delGAA p.K1191delK Deletion - In frame Endometrium COSM296744 BAHCC1 c.6175delA p.K2060fs*14 Deletion - Frameshift Large_intestine COSM1465508 SMARCA1 c.2257C>T p.R753C Substitution - Missense Large_intestine COSM5414787 SMARCA4 c.3291C>G p.H1097Q Substitution - Missense Breast COSM1326307 ATAD2B_ENST00000238789 c.4199G>C p.R1400T Substitution - Missense Ovary COSM4170114 TET2 c.2765_2766insTT p.N923fs*31 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3174125 EYA4 c.1109G>A p.R370H Substitution - Missense Oesophagus COSM3959268 MBD2 c.472G>A p.G158R Substitution - Missense Lung COSM252979 CLOCK c.368delT p.L123fs*1 Deletion - Frameshift Stomach COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2221846 TRIM66 c.1448C>T p.P483L Substitution - Missense Large_intestine COSM4958951 TRIM28 c.588G>A p.G196G Substitution - coding silent Liver COSM287310 BRWD1 c.603_604delCT p.F202fs*5 Deletion - Frameshift Large_intestine COSM1184405 BAHD1 c.1598G>A p.R533H Substitution - Missense Large_intestine COSM5959006 PRDM12 c.534delC p.Q179fs*13 Deletion - Frameshift Thyroid COSM3958071 RAI1 c.4057C>A p.P1353T Substitution - Missense Lung COSM172385 KMT2A c.7074G>A p.S2358S Substitution - coding silent Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3814489 CHD8 c.1010T>G p.V337G Substitution - Missense Breast COSM422790 PBRM1 c.2632G>T p.E878* Substitution - Nonsense Kidney COSM3874534 TDRD6 c.4321C>A p.R1441R Substitution - coding silent Stomach COSM3755439 PCGF2 c.435C>T p.D145D Substitution - coding silent Stomach COSM3510238 CHD9 c.7864C>T p.P2622S Substitution - Missense Skin COSM5790833 BAG6 c.1370-1G>C p.? Unknown Breast COSM1158531 BRD8 c.2035C>G p.Q679E Substitution - Missense Pancreas COSM4581819 CHD6 c.3210G>A p.E1070E Substitution - coding silent Bone COSM1125432 ATRX c.4639G>T p.E1547* Substitution - Nonsense Endometrium COSM5589135 TDRD3 c.1610C>A p.P537Q Substitution - Missense Skin COSM930384 DPF2 c.1048C>T p.R350C Substitution - Missense Biliary_tract COSM5777256 TIF1 c.1416T>C p.H472H Substitution - coding silent Breast COSM3414373 ATAD2B_ENST00000238789 c.2974-7G>C p.? Unknown Oesophagus COSM5956104 PRDM1 c.1676G>T p.R559I Substitution - Missense Upper_aerodigestive_tract COSM1716807 TET2 c.? p.Q1547* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM350175 ASXL1 c.2434G>T p.G812C Substitution - Missense Lung COSM120176 TET2 c.3813C>G p.C1271W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53142 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3190637 HDAC5 c.689G>A p.G230D Substitution - Missense Large_intestine COSM99134 PRDM1 c.183+2T>G p.E61fs Unknown Haematopoietic_and_lymphoid_tissue COSM5889439 TAF1 c.2263C>T p.H755Y Substitution - Missense Skin COSM4172356 PHF17 c.1598T>G p.L533R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1617678 SETD2 c.3377A>G p.H1126R Substitution - Missense Liver COSM1075190 JARID2 c.141G>T p.Q47H Substitution - Missense Endometrium COSM443833 CHD6 c.7587C>T p.P2529P Substitution - coding silent Breast COSM3943203 RNF2 c.1A>G p.M1V Substitution - Missense Ovary COSM1008152 BAZ2B c.4547C>T p.T1516M Substitution - Missense Endometrium COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM738279 PRDM9 c.1475G>A p.R492K Substitution - Missense Lung COSM4732880 TDG c.195C>G p.P65P Substitution - coding silent Large_intestine COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4633842 ZMYM4 c.1219T>C p.F407L Substitution - Missense Large_intestine COSM144617 KMT2D c.1940_1940delC p.P647fs*38 Deletion - Frameshift Large_intestine COSM5882174 PRDM4 c.1523G>C p.G508A Substitution - Missense Breast COSM87169 TET2 c.4249G>T p.V1417F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3754332 TP53BP1 c.1234G>A p.G412S Substitution - Missense Soft_tissue COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1400333 BAZ2B c.6319T>G p.F2107V Substitution - Missense Large_intestine COSM254541 ARID1A c.3634C>T p.Q1212* Substitution - Nonsense Urinary_tract COSM1665964 PBRM1 c.3533+1G>A p.? Unknown Kidney COSM1387361 SIRT7 c.1185A>C p.K395N Substitution - Missense Large_intestine COSM4767767 SMARCA4 c.3704A>G p.D1235G Substitution - Missense Biliary_tract COSM5622045 TRIM33 c.2201C>T p.S734F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5777672 YEATS4 c.671C>T p.A224V Substitution - Missense Breast COSM1125851 BRWD3 c.2595A>T p.G865G Substitution - coding silent Endometrium COSM1246137 BMI1 c.674A>G p.Y225C Substitution - Missense Oesophagus COSM1754205 NSD1 c.7740G>A p.A2580A Substitution - coding silent Urinary_tract COSM1617461 ZCWPW2 c.610G>A p.D204N Substitution - Missense Liver COSM51225 ARID1A c.486_492delCGCCGCC p.A163fs*67 Deletion - Frameshift Ovary COSM737598 NSD1 c.4411C>T p.R1471* Substitution - Nonsense Lung COSM5931338 MECOM c.1015C>T p.P339S Substitution - Missense Skin COSM4566710 CHD2 c.4508_4509GG>AA p.R1503Q Substitution - Missense Skin COSM4423239 ATRX c.3384delA p.R1128fs*2 Deletion - Frameshift Central_nervous_system COSM4018333 KMT2A c.8444C>T p.P2815L Substitution - Missense Stomach COSM3694136 HDAC10 c.1569C>T p.D523D Substitution - coding silent Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5546655 PHF6 c.442G>T p.E148* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5484032 FTO c.1189T>C p.C397R Substitution - Missense Large_intestine COSM41597 ASXL1 c.1899_1921del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3734204 HDAC4 c.658G>A p.G220R Substitution - Missense Pancreas COSM4666081 BRD1 c.1356T>C p.I452I Substitution - coding silent Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1189301 PRMT7 c.410G>A p.R137H Substitution - Missense Lung COSM969260 GTF3C1 c.2401C>T p.R801W Substitution - Missense Endometrium COSM5658173 KMT2D c.13842delC p.A4615fs*110 Deletion - Frameshift Soft_tissue COSM308124 PRMT6 c.299A>G p.Y100C Substitution - Missense Biliary_tract COSM4663693 ASH1L c.8801_8802insA p.N2934fs*4 Insertion - Frameshift Large_intestine COSM5686934 BTAF1 c.1872A>G p.L624L Substitution - coding silent Soft_tissue COSM5995331 GABRG1 c.1383C>T p.G461G Substitution - coding silent Prostate COSM1107170 EHMT1 c.745G>T p.V249F Substitution - Missense Endometrium COSM1385206 SMARCD2 c.146C>A p.P49H Substitution - Missense Large_intestine COSM4172406 SHPRH c.2219C>T p.S740L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5921049 SRCAP c.6662C>T p.S2221F Substitution - Missense Skin COSM1075253 JARID2 c.2664T>C p.H888H Substitution - coding silent Endometrium COSM958933 UBR7 c.638G>A p.R213Q Substitution - Missense Endometrium COSM5635447 KMT2D c.14925C>T p.V4975V Substitution - coding silent Oesophagus COSM4064148 NCOR1 c.5393T>A p.L1798Q Substitution - Missense Stomach COSM41742 TET2 c.5152G>T p.V1718L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1299331 PRMT8 c.937A>G p.I313V Substitution - Missense Urinary_tract COSM133045 EZH2 c.1697G>A p.R566H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5988196 BAG6 c.3308G>C p.R1103P Substitution - Missense Salivary_gland COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5569003 BRD8 c.2900C>T p.S967L Substitution - Missense Prostate COSM907694 ARID1A c.2021delG p.S674fs*68 Deletion - Frameshift Endometrium COSM3875669 PHIP c.4263T>G p.V1421V Substitution - coding silent Stomach COSM3563688 BRWD3 c.1359C>T p.I453I Substitution - coding silent Skin COSM3650065 CHD7 c.707C>T p.S236F Substitution - Missense Skin COSM5719013 BAHCC1 c.2378C>T p.P793L Substitution - Missense Skin COSM907711 ARID1A c.3430C>T p.P1144S Substitution - Missense Endometrium COSM5505105 ASH1L c.355C>A p.P119T Substitution - Missense Biliary_tract COSM1169607 TET2 c.? p.Q866* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5599661 HDAC1 c.234C>T p.S78S Substitution - coding silent Skin COSM4539853 BRPF1 c.2747G>A p.R916Q Substitution - Missense Skin COSM3747207 HDAC10 c.430T>C p.F144L Substitution - Missense Liver COSM4383592 DNMT3A c.1015G>A p.V339M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5783871 CHD9 c.1934A>G p.Y645C Substitution - Missense Breast COSM5438867 HCFC2 c.95G>T p.R32L Substitution - Missense Oesophagus COSM4383776 TET2 c.1021C>T p.Q341* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM129365 SP110 c.1591C>T p.R531W Substitution - Missense Upper_aerodigestive_tract COSM3153169 EP300 c.4402delA p.M1470fs*26 Deletion - Frameshift Large_intestine COSM1026107 NCOA6 c.792G>A p.Q264Q Substitution - coding silent Large_intestine COSM4590784 ATF7IP c.2647C>A p.Q883K Substitution - Missense Upper_aerodigestive_tract COSM3464368 CHD4 c.3516C>T p.Y1172Y Substitution - coding silent Skin COSM947886 PHF11 c.842C>T p.A281V Substitution - Missense Endometrium COSM4515881 SETD1A c.1398_1399CC>TT p.R467C Substitution - Missense Skin COSM3814481 CHD8 c.3095G>C p.R1032T Substitution - Missense Breast COSM4624313 DIDO1 c.3751G>A p.A1251T Substitution - Missense Large_intestine COSM5904492 NCOA5 c.955G>A p.E319K Substitution - Missense Skin COSM2732633 PHF2 c.2851delA p.K953fs*7 Deletion - Frameshift Large_intestine COSM42083 TET2 c.3199A>T p.R1067* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5415901 TET2 c.? p.L1229R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5760546 EZH2 c.? p.Y579S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1087523 KMT2C c.13000C>T p.R4334W Substitution - Missense Endometrium COSM4827481 ATF2 c.1177C>T p.Q393* Substitution - Nonsense Cervix COSM4072454 MBD1 c.743G>A p.R248H Substitution - Missense Stomach COSM1028987 DIDO1 c.2157T>G p.N719K Substitution - Missense Endometrium COSM277635 TDRD1 c.3512T>G p.F1171C Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1292394 MLL5 c.4952C>G p.S1651C Substitution - Missense Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1604163 KMT2A c.3216C>T p.C1072C Substitution - coding silent Liver COSM4681115 EP400 c.2735A>C p.E912A Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4765536 BRD9 c.39_40insT p.L14fs*2 Insertion - Frameshift Stomach COSM4916185 BRWD1 c.2111A>G p.N704S Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1377474 SRCAP c.5625_5626insC p.P1879fs*21 Insertion - Frameshift Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM144701 PHF6 c.? p.R225* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5574173 ARID1A c.5636G>A p.R1879Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM255248 KDM4C c.2939G>C p.R980T Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1316825 CARM1 c.1517G>C p.S506T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1377474 SRCAP c.5625_5626insC p.P1879fs*21 Insertion - Frameshift Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4760353 HDAC2 c.422A>G p.H141R Substitution - Missense Stomach COSM2140952 CHD2 c.4000delG p.E1335fs*5 Deletion - Frameshift Large_intestine COSM5472916 HDAC8 c.1067G>A p.R356H Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4383590 DNMT3A c.1031T>A p.L344Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM3663287 ACTB c.57C>G p.A19A Substitution - coding silent Liver COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM4689584 HCFC1 c.3605C>T p.T1202I Substitution - Missense Large_intestine COSM2037104 PHRF1 c.3628C>T p.P1210S Substitution - Missense Large_intestine COSM925906 PRMT3 c.1136G>T p.R379I Substitution - Missense Endometrium COSM4592287 SP140_ENST00000392045 c.1948C>G p.P650A Substitution - Missense Upper_aerodigestive_tract COSM1661471 DMAP1 c.486C>G p.D162E Substitution - Missense Kidney COSM459144 ARID4A c.2281G>C p.E761Q Substitution - Missense Cervix COSM2952950 INTS12 c.41delT p.L14fs*1 Deletion - Frameshift Large_intestine COSM4092260 SP140_ENST00000392045 c.1614C>T p.N538N Substitution - coding silent Prostate COSM3810197 KDM2A c.1603A>G p.I535V Substitution - Missense Breast COSM140917 ARID1A c.2786C>T p.P929L Substitution - Missense Upper_aerodigestive_tract COSM133001 ARID1A c.5548_5548delG p.D1850fs*33 Deletion - Frameshift Stomach COSM5563528 KAT5 c.855G>A p.Q285Q Substitution - coding silent Prostate COSM149408 ATXN7 c.2137C>T p.L713L Substitution - coding silent Stomach COSM5770234 RERE c.1648G>A p.D550N Substitution - Missense Breast COSM26904 SMARCA4 c.1419+5G>T p.? Unknown Pancreas COSM3294333 NCOA5 c.945G>C p.K315N Substitution - Missense Cervix COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Biliary_tract COSM28371 ATF7IP c.1114G>T p.E372* Substitution - Nonsense Lung COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1088 SMARCB1 c.1-65C>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43490 TET2 c.1664_1665insC p.T556fs*11 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51483 ARID1A c.4624G>T p.E1542* Substitution - Nonsense Central_nervous_system COSM80617 TCF20 c.1566C>G p.G522G Substitution - coding silent Ovary COSM71283 KDM5C c.4286C>T p.P1429L Substitution - Missense Ovary COSM96455 CREBBP c.5282C>G p.S1761* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM97026 PRDM1 c.609C>A p.C203* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM110707 ASXL1 c.1762C>T p.Q588* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM132881 ATRX c.6485T>C p.V2162A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM134119 BAG6 c.421C>T p.P141S Substitution - Missense Skin COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Central_nervous_system COSM159233 ASXL1 c.4016G>A p.G1339E Substitution - Missense Breast COSM195260 TAF1 c.5522C>T p.P1841L Substitution - Missense Stomach COSM249841 IKZF1 c.472G>A p.G158S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM229647 PRDM16 c.269C>T p.S90F Substitution - Missense Skin COSM240096 HELLS c.190C>T p.R64W Substitution - Missense Prostate COSM239171 CBX4 c.212_213delAG p.G73fs*29 Deletion - Frameshift Prostate COSM255006 KDM6A c.3397C>T p.Q1133* Substitution - Nonsense Urinary_tract COSM269625 MSH6 c.2844A>G p.E948E Substitution - coding silent Large_intestine COSM261995 MGA c.3724C>T p.R1242* Substitution - Nonsense Skin COSM277800 TIF1 c.376C>T p.R126C Substitution - Missense Large_intestine COSM301033 EYA2 c.463G>A p.G155S Substitution - Missense Large_intestine COSM296466 CHD8 c.7496C>A p.P2499H Substitution - Missense Pancreas COSM405217 MLL5 c.1651delG p.E551fs*9 Deletion - Frameshift Lung COSM435121 SRCAP c.2027C>G p.T676S Substitution - Missense Breast COSM433835 MGA c.5532A>T p.P1844P Substitution - coding silent Breast COSM444476 BRWD1 c.4784G>C p.R1595T Substitution - Missense Breast COSM988406 SETBP1 c.4212C>T p.I1404I Substitution - coding silent Endometrium COSM1600585 TRIM33 c.267T>C p.V89V Substitution - coding silent Liver COSM984430 ZBTB4 c.913G>A p.G305S Substitution - Missense Endometrium COSM484381 PHIP c.200A>G p.Y67C Substitution - Missense Kidney COSM918677 ERCC6 c.978G>T p.E326D Substitution - Missense Endometrium COSM693234 KDM5A c.4208C>T p.S1403F Substitution - Missense Biliary_tract COSM1030938 PRDM15 c.3476G>A p.C1159Y Substitution - Missense Endometrium COSM703447 FTO c.84C>T p.L28L Substitution - coding silent Lung COSM710869 DOT1L c.175G>A p.V59I Substitution - Missense Lung COSM731732 ATXN7 c.590G>C p.G197A Substitution - Missense Lung COSM990729 CARM1 c.1529C>A p.A510D Substitution - Missense Endometrium COSM996183 SIRT2 c.419C>A p.P140H Substitution - Missense Endometrium COSM1007227 MBD5 c.2235C>A p.N745K Substitution - Missense Endometrium COSM961215 BAHD1 c.1884C>G p.V628V Substitution - coding silent Endometrium COSM970584 CREBBP c.3321G>A p.E1107E Substitution - coding silent Endometrium COSM971511 FTO c.1042G>A p.D348N Substitution - Missense Endometrium COSM1122206 HDAC6 c.3512C>T p.P1171L Substitution - Missense Endometrium COSM1107768 SMARCA2 c.3232C>T p.L1078F Substitution - Missense Endometrium COSM1125513 ATRX c.1032C>T p.S344S Substitution - coding silent Endometrium COSM1128634 ATF7IP c.3357G>C p.Q1119H Substitution - Missense Prostate COSM1087615 KMT2C c.3806G>A p.G1269D Substitution - Missense Endometrium COSM1099921 MYST3 c.4442G>A p.S1481N Substitution - Missense Endometrium COSM1083671 MLL5 c.1011A>C p.Q337H Substitution - Missense Endometrium COSM1228825 TDRD1 c.2663T>G p.L888R Substitution - Missense Large_intestine COSM1236245 KDM5A c.1810C>T p.R604C Substitution - Missense Oesophagus COSM1233549 ZMYND11 c.1166A>C p.Q389P Substitution - Missense Large_intestine COSM1194909 ARID1B c.2812G>T p.A938S Substitution - Missense Lung COSM1205378 EP400 c.1619C>T p.T540M Substitution - Missense Large_intestine COSM1197183 CHD6 c.268A>G p.T90A Substitution - Missense Soft_tissue COSM1223042 RAI1 c.2291A>G p.E764G Substitution - Missense Large_intestine COSM1177702 TAF1L c.2776T>C p.S926P Substitution - Missense Endometrium COSM1300448 MTA1 c.2034G>C p.K678N Substitution - Missense Urinary_tract COSM1375536 CHD2 c.515delA p.V175fs*1 Deletion - Frameshift Large_intestine COSM1439365 PRDM13 c.1985C>T p.A662V Substitution - Missense Large_intestine COSM1607179 TDRD3 c.1658C>T p.A553V Substitution - Missense Liver COSM1478868 CREBBP c.3271C>T p.R1091C Substitution - Missense Stomach COSM1610432 MYST2 c.710C>T p.S237F Substitution - Missense Liver COSM1680371 MBD2 c.549T>G p.S183R Substitution - Missense Large_intestine COSM1680763 BRD4 c.218C>T p.T73I Substitution - Missense Skin COSM1700719 CHRAC1 c.73C>T p.R25W Substitution - Missense Skin COSM1753235 SETD2 c.2999C>T p.P1000L Substitution - Missense Urinary_tract COSM1753466 TET2 c.2125G>A p.E709K Substitution - Missense Urinary_tract COSM1739257 TDRD6 c.1535C>T p.T512I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2041333 KDM2A c.324G>A p.V108V Substitution - coding silent Bone COSM2911781 DNMT3A c.1793G>A p.R598Q Substitution - Missense Large_intestine COSM3262016 SMARCD3 c.1209delC p.G405fs*16 Deletion - Frameshift Large_intestine COSM3294887 ZMYND8 c.2140G>T p.D714Y Substitution - Missense Large_intestine COSM3382107 ATAD2 c.1177C>T p.R393W Substitution - Missense Pancreas COSM3374763 ATAD2 c.1658C>T p.S553F Substitution - Missense Thyroid COSM3386096 PHC2 c.174+5G>T p.? Unknown Pancreas COSM3405689 EP300 c.4111C>T p.L1371L Substitution - coding silent Central_nervous_system COSM3562338 SMC1A c.1344C>T p.S448S Substitution - coding silent Skin COSM3559642 HCFC1 c.1496C>T p.S499L Substitution - Missense Skin COSM3525448 ASXL3 c.2043C>T p.I681I Substitution - coding silent Skin COSM3662943 TIF1 c.1893G>A p.V631V Substitution - coding silent Liver COSM3656874 TAF1L c.633G>A p.E211E Substitution - coding silent Skin COSM3749370 SETD6 c.193T>C p.L65L Substitution - coding silent Thyroid COSM3752792 TRIM66 c.1397A>G p.H466R Substitution - Missense Large_intestine COSM3782782 MPHOSPH8 c.1826C>T p.A609V Substitution - Missense Prostate COSM3786782 BRWD3 c.3432C>T p.D1144D Substitution - coding silent Skin COSM3818890 NCOR1 c.4882C>T p.R1628C Substitution - Missense Breast COSM3794532 CHD2 c.3175G>C p.E1059Q Substitution - Missense Urinary_tract COSM3865323 PRDM16 c.934G>A p.D312N Substitution - Missense Skin COSM3938229 KDM4B c.2373C>T p.H791H Substitution - coding silent Oesophagus COSM3928934 KMT2C c.2231C>A p.T744K Substitution - Missense Central_nervous_system COSM3848172 PSIP1 c.883C>G p.Q295E Substitution - Missense Breast COSM3948830 HDGFL1 c.199G>T p.G67C Substitution - Missense Lung COSM4031020 ARID1A c.5125-1G>A p.? Unknown Stomach COSM4031485 HDAC1 c.618A>G p.P206P Substitution - coding silent Stomach COSM4031548 PRDM16 c.2911A>T p.R971W Substitution - Missense Stomach COSM4016194 TAF3 c.516T>C p.D172D Substitution - coding silent Stomach COSM4052976 SMEK1 c.1031C>T p.T344M Substitution - Missense Stomach COSM4118106 DHX30 c.1264C>T p.R422W Substitution - Missense Stomach COSM4120722 BRPF1 c.86G>A p.R29Q Substitution - Missense Stomach COSM4070755 SIRT7 c.407+2T>C p.? Unknown Stomach COSM4134979 AIRE c.758A>C p.K253T Substitution - Missense Thyroid COSM4129608 NCOR1 c.571G>A p.E191K Substitution - Missense Upper_aerodigestive_tract COSM4172261 ADNP c.158G>A p.W53* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4390751 ZMYM4 c.3779C>G p.S1260* Substitution - Nonsense Breast COSM4360998 KMT2C c.13433G>A p.R4478Q Substitution - Missense Large_intestine COSM4416808 PHF15 c.192G>A p.P64P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4488381 KAT6B c.3319C>T p.Q1107* Substitution - Nonsense Skin COSM4534314 RSF1 c.2074G>A p.E692K Substitution - Missense Skin COSM4592047 AKAP1 c.1597A>C p.T533P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4447833 BAHCC1 c.2592C>T p.F864F Substitution - coding silent Skin COSM4449807 ARID2 c.3374delA p.N1126fs*30 Deletion - Frameshift Skin COSM4454340 HDAC10 c.465A>T p.A155A Substitution - coding silent Skin COSM4480599 ARID1B c.2222C>T p.P741L Substitution - Missense Skin COSM4671296 CDYL2 c.1508T>G p.I503S Substitution - Missense Large_intestine COSM4681138 EP400 c.7958C>T p.T2653M Substitution - Missense Large_intestine COSM4720054 RAI1 c.1606C>T p.R536C Substitution - Missense Large_intestine COSM4665210 BAZ1B c.3816A>G p.E1272E Substitution - coding silent Large_intestine COSM4694068 MYST2 c.1026T>A p.F342L Substitution - Missense Large_intestine COSM4677505 DIDO1 c.4407G>A p.T1469T Substitution - coding silent Large_intestine COSM4654489 SMARCA2 c.574C>A p.L192M Substitution - Missense Large_intestine COSM4884920 TRRAP c.10233G>T p.K3411N Substitution - Missense Upper_aerodigestive_tract COSM4942132 NCOA6 c.1256A>T p.Q419L Substitution - Missense Liver COSM4854488 TDRD6 c.1274G>A p.G425E Substitution - Missense Cervix COSM4830492 SMARCA4 c.2547G>A p.R849R Substitution - coding silent Cervix COSM4819427 HDAC3 c.708C>G p.F236L Substitution - Missense Cervix COSM4951544 ZBTB4 c.2653G>T p.E885* Substitution - Nonsense Liver COSM4959403 JMJD1C c.4105G>A p.A1369T Substitution - Missense Liver COSM5004002 NCOA1 c.103C>A p.R35S Substitution - Missense Pancreas COSM4993878 PRMT7 c.87G>T p.E29D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4992296 NSD1 c.3930C>T p.S1310S Substitution - coding silent Skin COSM5043500 PRDM1 c.1367C>A p.P456H Substitution - Missense Liver COSM5396455 SP140_ENST00000392045 c.1750G>A p.D584N Substitution - Missense Skin COSM5415179 EZH2 c.2011C>G p.L671V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5380522 ARID1A c.5730T>A p.T1910T Substitution - coding silent Skin COSM5409538 ASH2L c.1789A>C p.M597L Substitution - Missense Skin COSM5508970 ARID4A c.1351A>G p.I451V Substitution - Missense Biliary_tract COSM5462440 ORC1 c.2023A>G p.R675G Substitution - Missense Large_intestine COSM5630366 EP300 c.6434T>A p.L2145Q Substitution - Missense Oesophagus COSM5576261 TIF1 c.3013C>T p.R1005C Substitution - Missense Stomach COSM5740315 TP53BP1 c.3193T>A p.F1065I Substitution - Missense Small_intestine COSM5657023 PCGF6 c.86T>C p.V29A Substitution - Missense Soft_tissue COSM5687513 CTCF c.332G>C p.G111A Substitution - Missense Soft_tissue COSM5572890 PBRM1 c.2980T>C p.Y994H Substitution - Missense Prostate COSM5611464 BAP1 c.133G>C p.G45R Substitution - Missense Pleura COSM5767000 PRDM4 c.120C>A p.P40P Substitution - coding silent Breast COSM5773263 NCOR1 c.468A>G p.P156P Substitution - coding silent Breast COSM5777380 LMNA c.973G>A p.D325N Substitution - Missense Breast COSM5840565 EP400 c.7352C>T p.P2451L Substitution - Missense Skin COSM5820765 ZBTB38 c.2968G>A p.D990N Substitution - Missense Liver COSM5944381 ASXL1 c.1371delC p.P458fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5944972 DNMT3A c.1285A>T p.K429* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5945456 EP300 c.3425G>T p.C1142F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5948806 RERE c.1456A>G p.S486G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5921807 PRMT2 c.854T>G p.F285C Substitution - Missense Skin COSM5914834 VPS72 c.836C>T p.P279L Substitution - Missense Skin COSM5909054 TDRD1 c.1831+5G>A p.? Unknown Skin COSM5972497 BAHCC1 c.7764G>A p.A2588A Substitution - coding silent Upper_aerodigestive_tract COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM166348 DNMT3A c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM1666676 SETBP1 c.? p.I871T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM256008 PHF6 c.1_1098del1098 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM5402125 PHF15 c.534C>T p.C178C Substitution - coding silent Skin COSM3061729 TCF20 c.5409C>T p.S1803S Substitution - coding silent Large_intestine COSM2818184 BRWD1 c.3671C>T p.A1224V Substitution - Missense Stomach COSM4107955 HCFC1 c.5007G>A p.P1669P Substitution - coding silent Stomach COSM3484203 LBR c.1756C>T p.R586C Substitution - Missense Skin COSM4072238 SETBP1 c.2211C>A p.P737P Substitution - coding silent Stomach COSM740719 SHPRH c.3507G>A p.Q1169Q Substitution - coding silent Lung COSM4955959 PHF20L1 c.770-2A>G p.? Unknown Liver COSM1138208 ATRX c.322T>C p.S108P Substitution - Missense Kidney COSM178432 SMCHD1 c.2480C>T p.A827V Substitution - Missense Large_intestine COSM1104695 PHF19 c.223G>A p.E75K Substitution - Missense Large_intestine COSM5889816 SP140_ENST00000392045 c.1057+6G>A p.? Unknown Skin COSM2739877 SMYD4 c.2103C>T p.I701I Substitution - coding silent Large_intestine COSM148891 KDM3A c.1559T>A p.L520H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4486281 ATRX c.3032C>T p.S1011F Substitution - Missense Skin COSM211643 TET2 c.3782G>A p.R1261H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4524368 SUZ12 c.1268G>A p.R423Q Substitution - Missense Skin COSM87192 TET2 c.5885C>T p.P1962L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5682318 SMC1A c.3072delC p.N1024fs*2 Deletion - Frameshift Soft_tissue COSM431585 MBD6 c.2632C>T p.R878* Substitution - Nonsense Breast COSM1613551 BAZ2B c.5614A>G p.I1872V Substitution - Missense Liver COSM606187 EYA1 c.901G>T p.G301W Substitution - Missense Skin COSM3972066 SP100 c.745G>A p.E249K Substitution - Missense Stomach COSM4846438 BPTF c.883C>G p.L295V Substitution - Missense Cervix COSM4950032 SUZ12 c.1862T>A p.V621D Substitution - Missense Liver COSM13835 ARID1A c.2834delG p.G945fs*23 Deletion - Frameshift Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM969934 SRCAP c.5034G>A p.T1678T Substitution - coding silent Endometrium COSM376340 KMT2A c.4739A>T p.D1580V Substitution - Missense Lung COSM5706725 ASXL3 c.1249T>G p.L417V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4004649 PRMT6 c.748A>C p.T250P Substitution - Missense Ovary COSM4037223 EED c.948C>T p.G316G Substitution - coding silent Stomach COSM1344639 RERE c.248delA p.K83fs*12 Deletion - Frameshift Skin COSM4975802 GTF3C1 c.5064C>T p.L1688L Substitution - coding silent Oesophagus COSM1088804 CBX3 c.93C>T p.V31V Substitution - coding silent Prostate COSM145775 PHC2 c.355C>A p.Q119K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3396732 MYST3 c.768G>T p.R256R Substitution - coding silent Liver COSM4765253 CHD7 c.1919_1920insA p.K643fs*33 Insertion - Frameshift Stomach COSM5377845 ASH1L c.7366+1G>A p.? Unknown Skin COSM4991931 BAP1 c.23T>G p.L8R Substitution - Missense Skin COSM159172 ARID1A c.4910G>A p.R1637Q Substitution - Missense Large_intestine COSM4098467 CHD6 c.1477A>G p.T493A Substitution - Missense Stomach COSM1635198 KMT2C c.2185A>G p.N729D Substitution - Missense Liver COSM1722309 MYST3 c.5079A>C p.P1693P Substitution - coding silent Central_nervous_system COSM360281 ACTB c.1017G>A p.V339V Substitution - coding silent Lung COSM1027967 ADNP c.2437C>T p.R813C Substitution - Missense Endometrium COSM5731682 HDAC9 c.1012C>T p.P338S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1017637 SP100 c.340G>A p.E114K Substitution - Missense Endometrium COSM1372817 MGA c.1832C>A p.P611H Substitution - Missense Large_intestine COSM1700243 EYA1 c.1095G>A p.M365I Substitution - Missense Skin COSM4821034 SMYD4 c.1424C>T p.A475V Substitution - Missense Cervix COSM2178774 TTF2 c.51C>T p.T17T Substitution - coding silent Large_intestine COSM1161941 SETD2 c.2900C>T p.P967L Substitution - Missense Kidney COSM1288406 TDRD5 c.377G>T p.R126M Substitution - Missense Autonomic_ganglia COSM961496 MGA c.1483C>T p.R495* Substitution - Nonsense Endometrium COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1081860 PHIP c.3193C>T p.R1065* Substitution - Nonsense Endometrium COSM6014486 MEN1 c.1460C>T p.S487F Substitution - Missense Skin COSM3902420 TDRD7 c.1350G>T p.E450D Substitution - Missense Stomach COSM4159839 PRDM9 c.2042C>G p.T681S Substitution - Missense Upper_aerodigestive_tract COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM255051 CREBBP c.1890_1893delAGCC p.A631fs*23 Deletion - Frameshift Urinary_tract COSM4169909 IDH1 c.245G>A p.R82K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3976111 SETDB1 c.399C>T p.L133L Substitution - coding silent Lung COSM4547506 SMYD1 c.424G>A p.E142K Substitution - Missense Skin COSM228240 CBX6 c.1124G>A p.S375N Substitution - Missense Skin COSM5547503 DIDO1 c.1200delC p.C402fs*25 Deletion - Frameshift Prostate COSM4021555 PRDM2 c.3792T>C p.D1264D Substitution - coding silent Stomach COSM359142 CBX4 c.559G>T p.D187Y Substitution - Missense Lung COSM1497338 ZMYM3 c.3619G>A p.V1207I Substitution - Missense Kidney COSM3307315 HDAC9 c.2820G>A p.T940T Substitution - coding silent Skin COSM4717466 PRDM13 c.1515C>T p.A505A Substitution - coding silent Large_intestine COSM446637 DHX30 c.2941C>T p.Q981* Substitution - Nonsense Breast COSM5809410 MEN1 c.154C>G p.R52G Substitution - Missense Liver COSM431203 KMT2D c.10026G>A p.Q3342Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3827989 NIPBL c.1105G>A p.D369N Substitution - Missense Breast COSM5519953 KMT2C c.13052_13053insA p.W4352fs*17 Insertion - Frameshift Biliary_tract COSM338787 C5orf35 c.468T>A p.G156G Substitution - coding silent Lung COSM1088175 HDAC9 c.1476G>A p.S492S Substitution - coding silent Skin COSM5879049 TET2 c.5479A>T p.K1827* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4119250 SFMBT1 c.2033A>G p.K678R Substitution - Missense Stomach COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM907720 ARID1A c.3972C>A p.Y1324* Substitution - Nonsense Endometrium COSM3294939 ZMYND8 c.1316delG p.G439fs*16 Deletion - Frameshift Large_intestine COSM5375642 BAZ2A_ENST00000379441 c.5379G>A p.R1793R Substitution - coding silent Skin COSM5433384 KMT2D c.10567C>T p.Q3523* Substitution - Nonsense Large_intestine COSM3549149 ZGPAT c.27C>T p.A9A Substitution - coding silent Skin COSM1553269 EYA1 c.637C>T p.Q213* Substitution - Nonsense Large_intestine COSM243048 ARID1B c.4270G>A p.G1424R Substitution - Missense Prostate COSM1581246 KMT2C c.6965T>C p.V2322A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1377810 CREBBP c.7231delC p.Q2411fs*2 Deletion - Frameshift Large_intestine COSM1683057 TTF2 c.110G>T p.C37F Substitution - Missense Kidney COSM1108235 TAF1L c.2673G>A p.T891T Substitution - coding silent Endometrium COSM438070 ASXL3 c.1471G>T p.D491Y Substitution - Missense Breast COSM5802370 PHIP c.3155_3174del20 p.L1052fs*2 Deletion - Frameshift Breast COSM460730 BRPF1 c.1434G>T p.W478C Substitution - Missense Cervix COSM5733487 MBD5 c.1012C>T p.P338S Substitution - Missense Pancreas COSM3359358 KDM2A c.3216T>G p.S1072R Substitution - Missense Kidney COSM4162406 BAZ1B c.2046C>G p.P682P Substitution - coding silent Thyroid COSM216305 ZMYM6 c.168G>A p.E56E Substitution - coding silent Pancreas COSM4585725 NSD1 c.3092G>A p.R1031Q Substitution - Missense Bone COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Skin COSM5989955 ING1 c.172T>C p.F58L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM272082 SRCAP c.4546T>G p.S1516A Substitution - Missense Large_intestine COSM174799 CHD3 c.5198C>T p.S1733L Substitution - Missense Skin COSM699052 UBR7 c.345+1G>C p.? Unknown Lung COSM263998 TDRD10 c.862G>A p.A288T Substitution - Missense Large_intestine COSM452710 KMT2C c.5230G>T p.E1744* Substitution - Nonsense Breast COSM1209432 HDGFL1 c.217C>T p.R73C Substitution - Missense Large_intestine COSM4694896 KDM2B c.1933delC p.R645fs*37 Deletion - Frameshift Stomach COSM4756130 ARID4A c.3277C>T p.R1093* Substitution - Nonsense Stomach COSM3831981 TIF1 c.1496C>A p.P499H Substitution - Missense Breast COSM3777712 TDRD6 c.4954G>C p.D1652H Substitution - Missense Urinary_tract COSM1038075 MBD4 c.1532_1534delTTC p.L511delL Deletion - In frame Endometrium COSM1125809 BRWD3 c.4669G>T p.G1557* Substitution - Nonsense Endometrium COSM3771832 ATAD2B_ENST00000238789 c.3871G>T p.E1291* Substitution - Nonsense Pancreas COSM459427 BAZ2A_ENST00000379441 c.3916G>T p.E1306* Substitution - Nonsense Cervix COSM3356675 CHD8 c.1716+7G>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM230183 TAF3 c.1973C>T p.P658L Substitution - Missense Skin COSM87143 TET2 c.4005_4009AACAT>TG p.T1336_Y1337>D Complex - deletion inframe Haematopoietic_and_lymphoid_tissue COSM1310786 HDAC3 c.567G>A p.T189T Substitution - coding silent Liver COSM5981769 BRWD1 c.2428C>T p.R810C Substitution - Missense Upper_aerodigestive_tract COSM4096163 SMYD1 c.620A>C p.D207A Substitution - Missense Stomach COSM6001592 IDH2 c.828C>T p.T276T Substitution - coding silent Prostate COSM724744 ZGPAT c.179G>C p.S60T Substitution - Missense Lung COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4570334 ASXL3 c.1709T>C p.V570A Substitution - Missense Skin COSM51214 ARID1A c.553C>T p.Q185* Substitution - Nonsense Ovary COSM4972015 CHD2 c.3314C>T p.T1105M Substitution - Missense Central_nervous_system COSM3800765 ATRX c.957G>C p.K319N Substitution - Missense Urinary_tract COSM738281 PRDM9 c.1034G>T p.R345L Substitution - Missense Lung COSM527979 TTF2 c.2651C>A p.P884H Substitution - Missense Large_intestine COSM5749506 CHD4 c.2795A>G p.E932G Substitution - Missense Genital_tract COSM1733315 ATF7IP c.3541T>C p.W1181R Substitution - Missense Pancreas COSM1468238 SUV39H1 c.1042G>A p.A348T Substitution - Missense Large_intestine COSM5944246 TET2 c.780delG p.L260fs*33 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4104435 EP300 c.4067G>A p.R1356Q Substitution - Missense Stomach COSM3414907 BMI1 c.433C>T p.R145W Substitution - Missense Skin COSM107100 RNF17 c.966G>A p.Q322Q Substitution - coding silent Skin COSM133721 DNMT3A c.958C>T p.R320* Substitution - Nonsense Prostate COSM253161 AKAP1 c.946G>A p.G316S Substitution - Missense Ovary COSM3693456 PHF20 c.1238C>T p.P413L Substitution - Missense Large_intestine COSM4928750 KAT5 c.61A>G p.R21G Substitution - Missense Liver COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1283497 ARID1A c.5825G>A p.G1942D Substitution - Missense Autonomic_ganglia COSM5075571 SETD2 c.6020G>T p.R2007L Substitution - Missense Kidney COSM3877220 PHF14 c.2452G>C p.E818Q Substitution - Missense Stomach COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5967240 TET2 c.? p.Q273* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM206736 ASH1L c.8683delA p.T2895fs*44 Deletion - Frameshift Large_intestine COSM990765 SMARCA4 c.4606G>A p.A1536T Substitution - Missense Endometrium COSM3622295 ARID1B c.5704G>T p.E1902* Substitution - Nonsense Skin COSM3712646 AP001011.3_ENST00000320876 c.922C>T p.H308Y Substitution - Missense Upper_aerodigestive_tract COSM4383847 TET2 c.2320T>A p.S774T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4916217 PRDM5 c.865+1G>T p.? Unknown Liver COSM4451215 TDRD5 c.1109A>G p.K370R Substitution - Missense Skin COSM5751555 EP300 c.6798_6800delGCA p.Q2268delQ Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM1303911 DNMT1 c.1408G>A p.D470N Substitution - Missense Urinary_tract COSM1202270 CREBBP c.5891G>A p.R1964H Substitution - Missense Large_intestine COSM5682319 SMC1A c.2980delC p.Q994fs*10 Deletion - Frameshift Soft_tissue COSM144598 KMT2D c.7094G>A p.R2365Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3262042 SMARCD3 c.665C>T p.T222M Substitution - Missense Large_intestine COSM88087 KMT2D c.11902C>T p.R3968C Substitution - Missense Stomach COSM3434304 TDRD1 c.3497C>T p.T1166I Substitution - Missense Skin COSM720792 NCOA1 c.2712A>T p.S904S Substitution - coding silent Lung COSM3365024 ZBTB38 c.3322A>G p.T1108A Substitution - Missense Kidney COSM277766 TP53BP1 c.5003G>T p.R1668I Substitution - Missense Endometrium COSM3747789 TDRKH c.66G>A p.G22G Substitution - coding silent Central_nervous_system COSM3508216 GTF3C1 c.4167C>T p.I1389I Substitution - coding silent Skin COSM1318925 DNMT3A c.1490G>A p.C497Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1559266 TRIM33 c.1887C>A p.P629P Substitution - coding silent Central_nervous_system COSM2966602 HDAC6 c.1849G>A p.A617T Substitution - Missense Large_intestine COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5678761 ERCC6 c.3882G>A p.L1294L Substitution - coding silent Soft_tissue COSM227783 MYST3 c.1511C>T p.P504L Substitution - Missense Skin COSM1131647 KMT2C c.2755G>C p.V919L Substitution - Missense Soft_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133022 ARID1A c.4893_4894insC p.M1634fs*14 Insertion - Frameshift Endometrium COSM1333988 POGZ c.3042G>T p.Q1014H Substitution - Missense Large_intestine COSM4593173 CBX4 c.691A>C p.N231H Substitution - Missense Upper_aerodigestive_tract COSM3740182 PCNA c.153C>T p.T51T Substitution - coding silent Liver COSM277022 RBBP7 c.820G>A p.E274K Substitution - Missense Large_intestine COSM5883919 PRDM5 c.1826A>C p.K609T Substitution - Missense Large_intestine COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3690941 SETD1A c.1986C>A p.S662S Substitution - coding silent Large_intestine COSM3508223 GTF3C1 c.3051C>T p.S1017S Substitution - coding silent Skin COSM958933 UBR7 c.638G>A p.R213Q Substitution - Missense Large_intestine COSM4509998 KIAA1045 c.823C>T p.L275L Substitution - coding silent Skin COSM1342117 ZMYM1 c.2365C>T p.R789* Substitution - Nonsense Large_intestine COSM4067504 MYST2 c.1509A>C p.K503N Substitution - Missense Stomach COSM133124 DNMT3A c.1906G>A p.V636M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5674156 CHD8 c.796G>T p.G266W Substitution - Missense Soft_tissue COSM334758 TRIM24 c.676C>G p.H226D Substitution - Missense Lung COSM3578904 SP140_ENST00000392045 c.1701G>A p.Q567Q Substitution - coding silent Skin COSM2098073 RNF2 c.210delT p.C72fs*23 Deletion - Frameshift Large_intestine COSM211641 TET2 c.1496_1496delC p.P499fs*34 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5898267 NIPBL c.6955-4C>T p.? Unknown Skin COSM254630 CREBBP c.3323C>A p.S1108* Substitution - Nonsense Urinary_tract COSM4097801 NCOA6 c.4559T>A p.V1520D Substitution - Missense Stomach COSM2777960 KDM4C c.676C>G p.Q226E Substitution - Missense Breast COSM3381977 BAZ1B c.460G>T p.G154C Substitution - Missense Pancreas COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM166851 TIF1 c.2626C>T p.R876C Substitution - Missense Large_intestine COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Salivary_gland COSM5375822 CHD4 c.265G>A p.G89R Substitution - Missense Skin COSM3914035 HDAC6 c.637C>A p.P213T Substitution - Missense Skin COSM1270993 ZMYM4 c.454C>T p.R152W Substitution - Missense Oesophagus COSM1161049 KMT2D c.12201_12205TCCCA>A p.T4069fs*44 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4471231 TET2 c.1707C>T p.A569A Substitution - coding silent Skin COSM1301788 GTF3C1 c.87G>C p.E29D Substitution - Missense Urinary_tract COSM4138505 PRDM8 c.1427G>T p.G476V Substitution - Missense Ovary COSM3662148 EYA4 c.1754T>A p.F585Y Substitution - Missense Liver COSM4934408 BTAF1 c.1318C>G p.Q440E Substitution - Missense Liver COSM41877 IDH2 c.418C>T p.R140W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4926947 CREBBP c.3778A>G p.T1260A Substitution - Missense Liver COSM1669122 KDM3A c.2491A>C p.N831H Substitution - Missense Large_intestine COSM328936 BRWD1 c.5991G>T p.K1997N Substitution - Missense Liver COSM2164488 MEN1 c.686G>A p.R229H Substitution - Missense Large_intestine COSM429736 SUV420H1 c.1673C>A p.P558Q Substitution - Missense Breast COSM2252223 UBR7 c.292C>T p.R98C Substitution - Missense Skin COSM4545744 EP400 c.3853G>A p.E1285K Substitution - Missense Skin COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Soft_tissue COSM5474045 SMARCA4 c.2373G>A p.A791A Substitution - coding silent Large_intestine COSM3984939 ARID1A c.6593T>C p.F2198S Substitution - Missense Kidney COSM78705 TRRAP c.8513C>T p.A2838V Substitution - Missense Ovary COSM3527171 L3MBTL4 c.900G>A p.M300I Substitution - Missense Skin COSM4143074 TDRD5 c.394C>T p.P132S Substitution - Missense Thyroid COSM4590050 PRDM10 c.1332A>C p.E444D Substitution - Missense Upper_aerodigestive_tract COSM5503176 SHPRH c.3732-1G>A p.? Unknown Biliary_tract COSM393210 SIRT4 c.68C>G p.P23R Substitution - Missense Lung COSM325257 EP400 c.2455G>T p.E819* Substitution - Nonsense Lung COSM3508903 SRCAP c.3833C>T p.S1278L Substitution - Missense Skin COSM5471178 ASXL1 c.2093C>T p.P698L Substitution - Missense Large_intestine COSM4590050 PRDM10 c.1332A>C p.E444D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4591023 KMT2C c.871C>T p.L291F Substitution - Missense Upper_aerodigestive_tract COSM1963587 ACTR5 c.490G>A p.G164R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3859970 ARID1B c.2667-2A>G p.? Unknown Stomach COSM1485579 INTS12 c.825A>T p.G275G Substitution - coding silent Breast COSM931209 SUV420H1 c.2347C>T p.R783* Substitution - Nonsense Oesophagus COSM1427010 PHF17 c.124C>T p.R42* Substitution - Nonsense Large_intestine COSM5605549 ARID1A c.6146G>A p.W2049* Substitution - Nonsense Skin COSM4072219 SETBP1 c.199C>T p.R67W Substitution - Missense Pancreas COSM343669 CLOCK c.94G>C p.D32H Substitution - Missense Lung COSM3786754 PHF8 c.1352C>T p.T451M Substitution - Missense Large_intestine COSM5944715 ASXL1 c.2060_2061insT p.T688fs*30 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1180774 KDM5A c.3597delA p.G1200fs*9 Deletion - Frameshift Large_intestine COSM3948688 RERE c.3930A>G p.R1310R Substitution - coding silent Ovary COSM13394 MSH6 c.3261_3262insC p.F1088fs*5 Insertion - Frameshift Large_intestine COSM42054 TET2 c.958G>T p.E320* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3973846 TAF1 c.4010G>T p.R1337L Substitution - Missense Central_nervous_system COSM3743890 MBD5 c.4365A>C p.E1455D Substitution - Missense Liver COSM5805776 TRIM24 c.1536G>A p.P512P Substitution - coding silent Liver COSM744290 MLL5 c.3082G>C p.D1028H Substitution - Missense Lung COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144491 DNMT3A c.2058_2064delCGTCCGC p.D686fs*17 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4411165 BAP1 c.1411_1412insC p.G472fs*20 Insertion - Frameshift Kidney COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4383973 TET2 c.5680C>A p.P1894T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1447019 MLL5 c.4260C>T p.H1420H Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5804929 ERCC6 c.1208A>T p.E403V Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1312940 HDAC9 c.1749G>A p.T583T Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2874593 NCOA2 c.2944C>T p.R982W Substitution - Missense Large_intestine COSM3879508 KMT2C c.13520A>G p.K4507R Substitution - Missense Stomach COSM3738172 TDRD6 c.5791G>T p.A1931S Substitution - Missense Soft_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4951349 BAZ2A_ENST00000379441 c.200C>A p.S67* Substitution - Nonsense Liver COSM5729491 SMARCA4 c.2042C>T p.T681I Substitution - Missense Skin COSM1316527 BRWD3 c.5061A>C p.R1687S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM224778 KDM4A c.716G>A p.R239H Substitution - Missense Skin COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33732 IDH2 c.515G>T p.R172M Substitution - Missense Central_nervous_system COSM1745549 KMT2A c.8333_8334insA p.M2780fs*3 Insertion - Frameshift Urinary_tract COSM3690636 MGA c.2727C>T p.G909G Substitution - coding silent Large_intestine COSM1406115 SP140_ENST00000392045 c.2332delT p.F779fs*17 Deletion - Frameshift Large_intestine COSM5716982 LBR c.28G>T p.E10* Substitution - Nonsense Skin COSM1169672 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM4110890 TAF1 c.1996C>T p.R666C Substitution - Missense Stomach COSM1672149 NSD1 c.7875G>T p.W2625C Substitution - Missense Large_intestine COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3629172 PHF3 c.719G>T p.C240F Substitution - Missense Skin COSM3463566 BAZ2A c.185C>T p.S62F Substitution - Missense Skin COSM4574519 PHRF1 c.951G>A p.A317A Substitution - coding silent Bone COSM5748877 BAZ2B c.1291C>T p.R431W Substitution - Missense Pancreas COSM125567 PRDM9 c.593A>T p.Q198L Substitution - Missense Upper_aerodigestive_tract COSM4796125 ASXL1 c.675G>A p.Q225Q Substitution - coding silent Liver COSM303248 SMARCA4 c.3572A>G p.H1191R Substitution - Missense Central_nervous_system COSM451292 RING1 c.1004A>G p.E335G Substitution - Missense Upper_aerodigestive_tract COSM4410851 SUV39H2 c.634delA p.R213fs*2 Deletion - Frameshift Kidney COSM3340999 NSD1 c.325A>T p.T109S Substitution - Missense Upper_aerodigestive_tract COSM3440601 KAT6B c.470A>C p.K157T Substitution - Missense Skin COSM1029172 ZGPAT c.710G>A p.R237H Substitution - Missense Endometrium COSM2803084 CHD3 c.3577C>T p.R1193* Substitution - Nonsense Large_intestine COSM4742982 ZMYND8 c.2354G>A p.R785H Substitution - Missense Large_intestine COSM1308860 FXR1 c.1743C>T p.N581N Substitution - coding silent Urinary_tract COSM3900869 CHD7 c.4130C>T p.A1377V Substitution - Missense Stomach COSM3524736 SMCHD1 c.630T>C p.I210I Substitution - coding silent Skin COSM1049006 SETD5_ENST00000402198 c.3357A>G p.S1119S Substitution - coding silent Endometrium COSM13840 ATRX c.3523A>G p.K1175E Substitution - Missense Breast COSM3546363 CHD6 c.4148C>A p.P1383Q Substitution - Missense Skin COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM36206 ASXL1 c.2431A>G p.N811D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM97043 ASXL1 c.3135_3136ins131 p.V1046fs*22 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM122138 TRRAP c.10827C>T p.L3609L Substitution - coding silent Upper_aerodigestive_tract COSM144513 TET2 c.1887_1887delC p.H629fs*10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM145233 CHD2 c.3438T>G p.F1146L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Central_nervous_system COSM165655 ZBTB33 c.1039G>C p.D347H Substitution - Missense Breast COSM170013 SHPRH c.2327G>A p.R776H Substitution - Missense Endometrium COSM204013 EP400 c.8653G>A p.V2885I Substitution - Missense Central_nervous_system COSM245967 NCOA3 c.4213A>G p.M1405V Substitution - Missense Oesophagus COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Central_nervous_system COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Urinary_tract COSM249225 TRIM24 c.3067A>C p.K1023Q Substitution - Missense Kidney COSM254540 ARID1A c.6806C>T p.S2269L Substitution - Missense Urinary_tract COSM266934 KMT2A c.11708G>A p.R3903H Substitution - Missense Large_intestine COSM255010 KDM6A c.2897C>G p.P966R Substitution - Missense Urinary_tract COSM284914 SETBP1 c.1134A>C p.Q378H Substitution - Missense Large_intestine COSM272049 SFMBT2 c.2048G>A p.S683N Substitution - Missense Large_intestine COSM301930 CHD3 c.721G>C p.A241P Substitution - Missense Upper_aerodigestive_tract COSM297202 PRDM2 c.4459delA p.V1490fs*74 Deletion - Frameshift Large_intestine COSM331054 UHRF1 c.2068G>T p.A690S Substitution - Missense Lung COSM326565 SRCAP c.1085G>A p.R362Q Substitution - Missense Lung COSM348036 ACTL6A c.310G>C p.D104H Substitution - Missense Lung COSM385374 PHIP c.3981A>C p.E1327D Substitution - Missense Lung COSM400248 HDAC4 c.2263G>T p.G755W Substitution - Missense Lung COSM417047 SRCAP c.134G>A p.G45D Substitution - Missense Large_intestine COSM436092 NCOR1 c.3022C>T p.Q1008* Substitution - Nonsense Breast COSM431043 PRMT8 c.1180C>T p.R394C Substitution - Missense Breast COSM433904 TP53BP1 c.5625C>G p.L1875L Substitution - coding silent Breast COSM443838 CHD6 c.1048C>T p.R350* Substitution - Nonsense Endometrium COSM454809 PRDM14 c.888C>T p.Y296Y Substitution - coding silent Prostate COSM466116 HELLS c.1580A>C p.E527A Substitution - Missense Kidney COSM1019126 NCOA1 c.896T>G p.F299C Substitution - Missense Endometrium COSM709517 SETBP1 c.3062G>T p.R1021M Substitution - Missense Lung COSM673788 ORC1 c.2470T>A p.S824T Substitution - Missense Endometrium COSM720763 DNMT3A c.2632T>C p.S878P Substitution - Missense Lung COSM907750 ARID1A c.6144G>A p.W2048* Substitution - Nonsense Endometrium COSM895917 TDRKH c.282C>T p.G94G Substitution - coding silent Cervix COSM970546 CREBBP c.6310C>T p.R2104C Substitution - Missense Endometrium COSM969933 SRCAP c.4762G>A p.A1588T Substitution - Missense Endometrium COSM1060220 LMNB1 c.626A>C p.K209T Substitution - Missense Endometrium COSM1124896 TAF1 c.2899A>G p.K967E Substitution - Missense Endometrium COSM1131931 TCF19 c.147G>T p.E49D Substitution - Missense Prostate COSM1200986 CHD6 c.3821T>C p.V1274A Substitution - Missense Large_intestine COSM1606947 RNF17 c.237T>C p.A79A Substitution - coding silent Liver COSM1312861 KMT2C c.12975G>A p.L4325L Substitution - coding silent Urinary_tract COSM1313190 ACTB c.472G>A p.G158R Substitution - Missense Urinary_tract COSM1289714 EP400 c.8181_8182insCAG p.Q2748_T2749insQ Insertion - In frame Upper_aerodigestive_tract COSM1270995 ZMYM6 c.1282C>T p.L428F Substitution - Missense Skin COSM1390291 SMARCA4 c.4887T>C p.D1629D Substitution - coding silent Large_intestine COSM1462642 KIAA2026_ENST00000399933 c.4241C>T p.S1414L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1483833 DIDO1 c.77C>T p.T26I Substitution - Missense Breast COSM1609522 CTCF c.2145C>G p.D715E Substitution - Missense Liver COSM1626993 ARID1A c.6735delC p.D2245fs*22 Deletion - Frameshift Liver COSM1676322 RSF1 c.2584A>T p.S862C Substitution - Missense Large_intestine COSM1694314 GABRG1 c.916G>A p.G306S Substitution - Missense Skin COSM1716408 CTCF c.853_854AT>G p.M285fs*25 Complex - frameshift Endometrium COSM1714019 PRDM15 c.1843C>T p.P615S Substitution - Missense Skin COSM1955347 EPC1 c.132A>G p.G44G Substitution - coding silent Upper_aerodigestive_tract COSM1731933 ARID1B c.840_841insGTGGCG p.A282_A283insVA Insertion - In frame Haematopoietic_and_lymphoid_tissue COSM1741332 KDM4D c.608A>G p.Y203C Substitution - Missense Urinary_tract COSM1997452 ACTA1 c.171C>T p.G57G Substitution - coding silent Stomach COSM2152576 KDM6A c.3700T>G p.C1234G Substitution - Missense Central_nervous_system COSM2145468 ERCC6 c.1783G>T p.A595S Substitution - Missense Large_intestine COSM2755427 KDM4B c.2467G>A p.A823T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2777956 KDM4C c.439G>A p.V147M Substitution - Missense Large_intestine COSM2965485 KDM6A c.3941_3942insA p.E1316fs*17 Insertion - Frameshift Large_intestine COSM3048268 SP110 c.550C>T p.P184S Substitution - Missense Skin COSM3108811 GTF3C1 c.6298G>A p.E2100K Substitution - Missense Cervix COSM3304456 KMT2C c.2360C>T p.P787L Substitution - Missense Prostate COSM3365769 NIPBL c.102T>A p.A34A Substitution - coding silent Kidney COSM3385217 TDRD10 c.901G>A p.D301N Substitution - Missense Pancreas COSM3479332 TDRD5 c.2649C>T p.P883P Substitution - coding silent Skin COSM3487586 ARID1A c.4366C>T p.P1456S Substitution - Missense Skin COSM3622171 JARID2 c.1075G>C p.D359H Substitution - Missense Skin COSM3592029 KAT2B c.1831G>A p.E611K Substitution - Missense Skin COSM3547670 ADNP c.1749C>T p.A583A Substitution - coding silent Skin COSM3690061 BAZ1A c.4608C>T p.H1536H Substitution - coding silent Large_intestine COSM3715241 CHD1 c.1538C>A p.T513K Substitution - Missense Upper_aerodigestive_tract COSM3762397 TRIM24 c.2589A>G p.G863G Substitution - coding silent Large_intestine COSM3935146 SFMBT2 c.2247G>A p.S749S Substitution - coding silent Oesophagus COSM3917830 GABRG1 c.765G>A p.G255G Substitution - coding silent Skin COSM3958068 SMYD4 c.210C>G p.F70L Substitution - Missense Lung COSM4031025 ARID1A c.6310T>C p.S2104P Substitution - Missense Stomach COSM4035256 MEN1 c.781C>T p.Q261* Substitution - Nonsense Stomach COSM4034561 PHRF1 c.3789C>T p.S1263S Substitution - coding silent Stomach COSM4065091 PHF12 c.1578G>A p.A526A Substitution - coding silent Stomach COSM4160323 ARID1B c.5895C>T p.H1965H Substitution - coding silent Thyroid COSM4159920 C5orf35 c.625A>G p.K209E Substitution - Missense Liver COSM4340433 ZMYM3 c.3965C>T p.P1322L Substitution - Missense Bone COSM4603241 KDM6B c.761_762insACCACC p.P264_L265insPP Insertion - In frame Upper_aerodigestive_tract COSM4484741 STK31 c.2847C>T p.S949S Substitution - coding silent Skin COSM4592047 AKAP1 c.1597A>C p.T533P Substitution - Missense Upper_aerodigestive_tract COSM4476560 SFMBT1 c.2078C>G p.S693C Substitution - Missense Skin COSM4453286 BRWD1 c.275A>G p.E92G Substitution - Missense Skin COSM4700967 MBD2 c.471_472insC p.G158fs*28 Insertion - Frameshift Large_intestine COSM4717480 PRDM15 c.3156G>A p.Q1052Q Substitution - coding silent Large_intestine COSM4729931 SRCAP c.2121C>G p.L707L Substitution - coding silent Large_intestine COSM4742956 ZMYND11 c.548T>C p.L183P Substitution - Missense Large_intestine COSM4713946 PHF15 c.2014_2015insC p.S672fs*8 Insertion - Frameshift Large_intestine COSM4652750 GLYR1 c.1119G>T p.Q373H Substitution - Missense Large_intestine COSM4796489 SUV420H2 c.129G>A p.R43R Substitution - coding silent Liver COSM4890876 INOC1 c.811G>A p.E271K Substitution - Missense Upper_aerodigestive_tract COSM4816530 ASH1L c.6891C>T p.P2297P Substitution - coding silent Cervix COSM4958333 RNF17 c.1206G>A p.V402V Substitution - coding silent Liver COSM4964469 PRDM2 c.1999C>T p.L667F Substitution - Missense Pancreas COSM4999379 SMYD3 c.599T>C p.F200S Substitution - Missense Pancreas COSM4993593 KDM5D c.588C>T p.P196P Substitution - coding silent Skin COSM4987088 ARID1B c.806G>C p.G269A Substitution - Missense Soft_tissue COSM4988881 NSD1 c.6750G>A p.M2250I Substitution - Missense Soft_tissue COSM5019722 KMT2C c.850-7C>T p.? Unknown Soft_tissue COSM5019722 KMT2C c.850-7C>T p.? Unknown Soft_tissue COSM5028497 SMARCA4 c.2592C>G p.I864M Substitution - Missense Breast COSM5008671 KMT2C c.13495A>G p.K4499E Substitution - Missense Large_intestine COSM5113192 SIRT2 c.501+6C>T p.? Unknown Large_intestine COSM5152580 ACTB c.5A>C p.D2A Substitution - Missense Large_intestine COSM5345300 KMT2C c.6469G>C p.D2157H Substitution - Missense Large_intestine COSM5404411 EYA4 c.1434G>A p.M478I Substitution - Missense Skin COSM5353371 ORC1 c.1864C>T p.L622F Substitution - Missense Large_intestine COSM5354061 NCOA1 c.117A>G p.E39E Substitution - coding silent Large_intestine COSM5355729 GABRG1 c.764-8delT p.? Unknown Large_intestine COSM5437043 TAF3 c.612G>A p.T204T Substitution - coding silent Large_intestine COSM5427256 ZBTB33 c.112G>A p.V38M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5424675 DNMT3A c.2636A>G p.N879S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5626215 CHD2 c.3548C>G p.S1183* Substitution - Nonsense Oesophagus COSM5769555 JMJD1C c.4667C>T p.S1556F Substitution - Missense Breast COSM5737201 NIPBL c.2323_2324insA p.P777fs*2 Insertion - Frameshift Small_intestine COSM5602609 WHSC1L1 c.1211C>T p.S404F Substitution - Missense Skin COSM5702471 SP100 c.1623_1624TA>CT p.K542* Substitution - Nonsense Soft_tissue COSM5713019 HCFC1 c.3296G>A p.S1099N Substitution - Missense Central_nervous_system COSM5749281 DMAP1 c.517G>T p.V173F Substitution - Missense Genital_tract COSM5749378 BRD8 c.2840T>C p.L947P Substitution - Missense Genital_tract COSM5553637 UHRF2 c.1867G>A p.E623K Substitution - Missense Prostate COSM5795621 SP100 c.1585C>G p.H529D Substitution - Missense Breast COSM5878818 DNMT3A c.1668G>T p.R556S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM5945703 ATRX c.? p.K1332fs*? Frameshift Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM166348 DNMT3A c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM53140 TET2 c.? p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM43409 TET2 c.? p.?fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM23401 MEN1 c.? p.W183G Substitution - Missense Pancreas COSM242620 RTF1 c.686C>A p.S229Y Substitution - Missense Prostate COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM5019040 ERCC6 c.1196G>A p.G399D Substitution - Missense Soft_tissue COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM1067637 NIPBL c.13A>G p.M5V Substitution - Missense Endometrium COSM1258625 KAT6B c.510G>T p.P170P Substitution - coding silent Stomach COSM1465509 SMARCA1 c.983G>A p.R328H Substitution - Missense Large_intestine COSM5547352 TAF1L c.1589delT p.L530fs*25 Deletion - Frameshift Prostate COSM465511 TRDMT1 c.990A>G p.E330E Substitution - coding silent Kidney COSM21481 HNF1A c.872_873insC p.G292fs*25 Insertion - Frameshift Liver COSM3900854 CHD7 c.779C>T p.P260L Substitution - Missense Stomach COSM6002627 CBX4 c.827C>T p.A276V Substitution - Missense Prostate COSM1449378 KMT2C c.13053_13054insA p.W4352fs*17 Insertion - Frameshift Large_intestine COSM1747359 ZMYM5 c.806C>T p.S269F Substitution - Missense Urinary_tract COSM86082 KMT2C c.2418C>G p.S806S Substitution - coding silent Thyroid COSM3925552 EYA1 c.673C>G p.Q225E Substitution - Missense Skin COSM1255481 KDM2A c.438C>A p.L146L Substitution - coding silent Liver COSM3386883 TP53BP1 c.1143C>A p.P381P Substitution - coding silent Pancreas COSM4771469 EPC1 c.161A>T p.H54L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM120172 TET2 c.4251_4252insTT p.L1418fs*31 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5822589 EYA2 c.125C>A p.A42D Substitution - Missense Liver COSM3359777 SMARCD1 c.448A>T p.T150S Substitution - Missense Kidney COSM338891 SMARCA2 c.1358A>T p.N453I Substitution - Missense Lung COSM3976196 ASH1L c.8401A>T p.T2801S Substitution - Missense Lung COSM80111 LMNB2 c.1464G>A p.L488L Substitution - coding silent Ovary COSM961985 TP53BP1 c.412G>T p.E138* Substitution - Nonsense Endometrium COSM910294 RAD54L c.224G>A p.R75Q Substitution - Missense Large_intestine COSM3935207 BTAF1 c.2811C>T p.V937V Substitution - coding silent Oesophagus COSM3650709 EYA1 c.1530G>A p.A510A Substitution - coding silent Skin COSM3814483 CHD8 c.2509G>A p.E837K Substitution - Missense Breast COSM1702654 KAT6B c.1687C>T p.P563S Substitution - Missense Skin COSM218914 KMT2C c.3683C>A p.S1228* Substitution - Nonsense Pancreas COSM147860 MTA1 c.1114G>A p.V372I Substitution - Missense Skin COSM895016 PRDM2 c.3045C>A p.T1015T Substitution - coding silent Endometrium COSM5982221 KDM6A c.2232C>T p.V744V Substitution - coding silent Upper_aerodigestive_tract COSM4488547 MBD5 c.3348C>T p.P1116P Substitution - coding silent Skin COSM4044352 CHD4 c.1831C>T p.R611C Substitution - Missense Stomach COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5424295 ZMYM1 c.1147-3A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1038085 MBD4 c.142G>T p.E48* Substitution - Nonsense Endometrium COSM1636199 UHRF2 c.1696C>T p.R566C Substitution - Missense Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Skin COSM1385959 PHF23 c.280G>A p.A94T Substitution - Missense Large_intestine COSM1480274 AP001011.3_ENST00000320876 c.4154G>C p.G1385A Substitution - Missense Breast COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM1061242 BRD8 c.1873-1G>T p.? Unknown Endometrium COSM4595028 KMT2C c.2681G>A p.R894Q Substitution - Missense Soft_tissue COSM3637008 HDAC9 c.991C>T p.P331S Substitution - Missense Skin COSM5988983 BAZ1B c.693+1G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Bone COSM4385563 TET2 c.369_370insT p.N124fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM4170123 TET2 c.1019_1020insC p.Q341fs*10 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM284223 PRDM9 c.537G>T p.K179N Substitution - Missense Large_intestine COSM2738999 NCOR1 c.4340G>A p.R1447Q Substitution - Missense Skin COSM5352128 PHF2 c.2242G>A p.G748S Substitution - Missense Pancreas COSM5435893 HDAC7 c.1798G>A p.D600N Substitution - Missense Oesophagus COSM4406715 NCOA1 c.1936C>T p.R646W Substitution - Missense Pancreas COSM2879835 MBD2 c.1001C>T p.A334V Substitution - Missense Biliary_tract COSM4046319 MPHOSPH8 c.2254G>A p.A752T Substitution - Missense Stomach COSM692221 EP400 c.7416G>A p.P2472P Substitution - coding silent Lung COSM1583425 SETDB1 c.3580C>T p.R1194C Substitution - Missense Endometrium COSM4622495 EP400 c.8491G>A p.A2831T Substitution - Missense Large_intestine COSM1061245 BRD8 c.942G>A p.A314A Substitution - coding silent Endometrium COSM53019 EZH2 c.1967C>T p.A656V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2688067 NIPBL c.7753G>A p.G2585R Substitution - Missense Large_intestine COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4603760 NSD1 c.2400delG p.A801fs*6 Deletion - Frameshift Upper_aerodigestive_tract COSM468038 EP400 c.8229G>A p.Q2743Q Substitution - coding silent Prostate COSM1238763 EHMT1 c.2299A>G p.N767D Substitution - Missense Oesophagus COSM4590719 KAT2A c.1583C>T p.S528F Substitution - Missense Upper_aerodigestive_tract COSM1636737 BAZ2A c.1952G>C p.R651P Substitution - Missense Bone COSM1443747 RING1 c.511delG p.E173fs*14 Deletion - Frameshift Large_intestine COSM1285467 IDH1 c.865G>T p.G289C Substitution - Missense Autonomic_ganglia COSM1177566 HDAC7 c.1024G>A p.E342K Substitution - Missense Large_intestine COSM4713974 PHF20 c.935_936insA p.N314fs*7 Insertion - Frameshift Large_intestine COSM5514519 BRPF3 c.985A>C p.K329Q Substitution - Missense Biliary_tract COSM4389943 SP140_ENST00000392045 c.2130A>G p.R710R Substitution - coding silent Pancreas COSM5393771 TCF20 c.4501G>A p.G1501S Substitution - Missense Skin COSM4597864 PRDM9 c.2272C>A p.R758S Substitution - Missense Oesophagus COSM4679203 DOT1L c.2193G>A p.S731S Substitution - coding silent Large_intestine COSM4773008 SETD7 c.574C>A p.H192N Substitution - Missense Stomach COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1740080 ARID4A c.2444A>T p.N815I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1116473 FMR1 c.1585G>T p.G529* Substitution - Nonsense Endometrium COSM4168946 BAZ2A_ENST00000379441 c.4267C>G p.L1423V Substitution - Missense Liver COSM1381117 NCOR1 c.7172G>A p.R2391Q Substitution - Missense Large_intestine COSM1698225 ARID1B c.3481C>T p.Q1161* Substitution - Nonsense Skin COSM4119794 ATXN7 c.1275G>A p.P425P Substitution - coding silent Stomach COSM702751 CCDC101 c.18C>G p.A6A Substitution - coding silent Lung COSM4169860 TET2 c.2230C>T p.Q744* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM51997 TET2 c.? p.S1292R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1211739 KDM4B c.2557G>A p.V853M Substitution - Missense Large_intestine COSM2023469 PWWP2B c.864C>T p.D288D Substitution - coding silent Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1674941 BRD3 c.1826C>T p.S609F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4011744 TDRD1 c.488C>T p.P163L Substitution - Missense Stomach COSM397899 EYA1 c.1434G>T p.W478C Substitution - Missense Lung COSM4797201 MORF4L1 c.518G>A p.R173Q Substitution - Missense Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1390021 DNMT1 c.4146G>A p.S1382S Substitution - coding silent Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4185923 CHD6 c.5218A>C p.S1740R Substitution - Missense Kidney COSM3954478 ATF7IP c.2291C>A p.T764N Substitution - Missense Lung COSM1638575 ERCC6 c.2145_2146insG p.Y716fs*44 Insertion - Frameshift Stomach COSM939484 KDM5A c.1268C>T p.P423L Substitution - Missense Endometrium COSM932191 RSF1 c.3835G>T p.D1279Y Substitution - Missense Endometrium COSM3719484 TET2 c.4680delT p.S1561fs*10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM255002 KDM6A c.1007A>G p.D336G Substitution - Missense Urinary_tract COSM5633825 PHC1 c.1089G>T p.Q363H Substitution - Missense Oesophagus COSM405256 ATXN7 c.1758_1759delAT p.S587fs*28 Deletion - Frameshift Lung COSM1666387 BAP1 c.91G>A p.E31K Substitution - Missense Eye COSM1615687 ZMYND8 c.3306G>T p.E1102D Substitution - Missense Liver COSM116479 RING1 c.593C>T p.P198L Substitution - Missense Ovary COSM3429311 NSD1 c.5019T>G p.F1673L Substitution - Missense Large_intestine COSM5944475 DNMT3A c.2197_2198insT p.E733fs*8 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3911761 DIDO1 c.2723C>T p.P908L Substitution - Missense Skin COSM4431049 ARID1A c.5316A>T p.K1772N Substitution - Missense Oesophagus COSM4528327 ORC1 c.1527G>A p.Q509Q Substitution - coding silent Skin COSM3863734 TDRD5 c.1691G>A p.G564E Substitution - Missense Skin COSM145115 ASXL1 c.2512A>T p.K838* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM88713 ARID1B c.6496_6497insC p.P2168fs*6 Insertion - Frameshift Ovary COSM3382956 SIRT1 c.682C>A p.L228I Substitution - Missense Pancreas COSM3717553 BPTF c.6798A>G p.A2266A Substitution - coding silent Liver COSM1166766 KMT2C c.12113delC p.P4038fs*45 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4291166 ASXL1 c.1331C>A p.S444* Substitution - Nonsense Large_intestine COSM392079 BRD8 c.3206_3207insA p.C1069fs*1 Insertion - Frameshift Lung COSM1189638 AP001011.3_ENST00000320876 c.54G>C p.E18D Substitution - Missense Lung COSM984757 JMJD6 c.588G>T p.W196C Substitution - Missense Endometrium COSM4601641 MBD2 c.389C>G p.P130R Substitution - Missense Upper_aerodigestive_tract COSM1716688 ATRX c.3992_3993insT p.K1332fs*1 Insertion - Frameshift Central_nervous_system COSM136637 TRIM24 c.574C>T p.Q192* Substitution - Nonsense Skin COSM225370 SRCAP c.5821C>T p.P1941S Substitution - Missense Skin COSM5516164 TTF2 c.2422C>T p.R808W Substitution - Missense Biliary_tract COSM912520 RERE c.1982C>T p.A661V Substitution - Missense Endometrium COSM5879034 TET2 c.4104C>G p.F1368L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3749716 NCOA3 c.3753G>A p.Q1251Q Substitution - coding silent Large_intestine COSM1603619 JMJD1C c.5990A>T p.N1997I Substitution - Missense Liver COSM477159 HDAC4 c.253C>G p.Q85E Substitution - Missense Kidney COSM1191100 CBX4 c.1167_1168insCAC p.H400_A401insH Insertion - In frame Lung COSM4064163 NCOR1 c.2171A>T p.E724V Substitution - Missense Stomach COSM460220 ZBTB4 c.326C>G p.S109C Substitution - Missense Cervix COSM5811562 MBD1 c.393-2A>T p.? Unknown Liver COSM3844032 HCFC1 c.4305C>T p.A1435A Substitution - coding silent Breast COSM87169 TET2 c.4249G>T p.V1417F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3957484 SETD1A c.1549A>G p.S517G Substitution - Missense Lung COSM5630720 CREBBP c.2311C>A p.Q771K Substitution - Missense Oesophagus COSM4953747 SETDB1 c.679G>A p.G227R Substitution - Missense Liver COSM128302 KDM4C c.1050A>G p.P350P Substitution - coding silent Upper_aerodigestive_tract COSM144567 PHF6 c.820C>T p.R274* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5144726 SMARCD2 c.1339G>A p.A447T Substitution - Missense Large_intestine COSM255007 KDM6A c.3341C>T p.S1114L Substitution - Missense Urinary_tract COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1212953 L3MBTL4 c.88G>A p.E30K Substitution - Missense Large_intestine COSM4931826 BRDT c.771T>C p.S257S Substitution - coding silent Liver COSM1330200 MLL5 c.2716A>C p.M906L Substitution - Missense Ovary COSM388831 ARID1A c.2866A>T p.N956Y Substitution - Missense Lung COSM5568928 SETDB1 c.2633C>T p.S878F Substitution - Missense Prostate COSM937147 EP400 c.2403G>A p.A801A Substitution - coding silent Endometrium COSM3751406 RERE c.3945A>G p.R1315R Substitution - coding silent Large_intestine COSM5464466 BRDT c.1696G>A p.E566K Substitution - Missense Large_intestine COSM5801779 PRMT5 c.1580-12_1580-10delATT p.? Unknown Breast COSM1462674 UHRF2 c.915C>T p.I305I Substitution - coding silent Oesophagus COSM5762135 ARID2 c.1580+1G>A p.? Unknown Pancreas COSM5926666 KDM4C c.1855C>T p.H619Y Substitution - Missense Skin COSM3452248 KDM2A c.1109C>T p.S370F Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4550443 DNMT3B c.464G>A p.G155E Substitution - Missense Skin COSM220674 KMT2D c.7678C>T p.R2560* Substitution - Nonsense Central_nervous_system COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1559266 TRIM33 c.1887C>A p.P629P Substitution - coding silent Central_nervous_system COSM1331789 PHF8 c.2949C>T p.R983R Substitution - coding silent Ovary COSM1193608 CBX2 c.397G>A p.G133S Substitution - Missense Lung COSM249842 IKZF1 c.87G>C p.E29D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4448133 BAHCC1 c.5575C>T p.P1859S Substitution - Missense Skin COSM1195400 PRMT7 c.2063C>T p.A688V Substitution - Missense Lung COSM21423 SMARCB1 c.118delC p.R40fs*15 Deletion - Frameshift Central_nervous_system COSM4990888 CREBBP c.2587G>A p.A863T Substitution - Missense Skin COSM1216531 KAT6B c.2789C>T p.A930V Substitution - Missense Large_intestine COSM5977178 EHMT1 c.1088A>C p.E363A Substitution - Missense Upper_aerodigestive_tract COSM2813800 SMARCA4 c.4329C>T p.R1443R Substitution - coding silent Large_intestine COSM3668526 BRWD1 c.1152A>C p.L384L Substitution - coding silent Liver COSM5377844 ASH1L c.7905C>T p.I2635I Substitution - coding silent Skin COSM4805896 PHIP c.3617T>C p.L1206P Substitution - Missense Liver COSM4665233 BAZ2B c.2957G>A p.R986Q Substitution - Missense Large_intestine COSM1089 SMARCB1 c.986+57insAA p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5745498 EP300 c.4432C>T p.R1478C Substitution - Missense Pancreas COSM4400976 PHRF1 c.4790A>G p.K1597R Substitution - Missense Skin COSM1466731 MECP2 c.419C>T p.A140V Substitution - Missense Large_intestine COSM1754543 SIRT5 c.862C>T p.H288Y Substitution - Missense Urinary_tract COSM3623131 KDM1B c.967T>C p.S323P Substitution - Missense Skin COSM3684372 ACTL6B c.465C>T p.T155T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4747534 BAHCC1 c.1547delC p.Q518fs*6 Deletion - Frameshift Stomach COSM3669911 CHD7 c.3206G>C p.R1069P Substitution - Missense Liver COSM1067071 PRDM9 c.835C>T p.R279* Substitution - Nonsense Oesophagus COSM1463723 PHF2 c.185T>C p.L62S Substitution - Missense Large_intestine COSM5461076 BRD3 c.850C>T p.R284C Substitution - Missense Prostate COSM4644422 ATAD2B_ENST00000238789 c.508C>T p.R170C Substitution - Missense Large_intestine COSM3479321 TDRD5 c.2294G>A p.S765N Substitution - Missense Skin COSM20489 TAF1 c.1358G>A p.G453D Substitution - Missense Large_intestine COSM925900 PRMT3 c.716G>A p.R239Q Substitution - Missense Endometrium COSM1611152 AP001011.3_ENST00000320876 c.1279A>G p.I427V Substitution - Missense Liver COSM3959333 L3MBTL4 c.597G>A p.E199E Substitution - coding silent Lung COSM1080945 PHF3 c.558T>C p.C186C Substitution - coding silent Endometrium COSM4994976 PRDM11 c.490C>T p.R164* Substitution - Nonsense Upper_aerodigestive_tract COSM4571550 RAI1 c.4899T>C p.S1633S Substitution - coding silent Skin COSM455703 PSIP1 c.833_835delAAG p.E278delE Deletion - In frame Large_intestine COSM1560993 PCGF6 c.83_84insGCCTCC p.P28_V29insPP Insertion - In frame Central_nervous_system COSM4624313 DIDO1 c.3751G>A p.A1251T Substitution - Missense Large_intestine COSM4418709 NSD1 c.2176T>C p.S726P Substitution - Missense Soft_tissue COSM1390289 SMARCA4 c.4823G>A p.R1608Q Substitution - Missense Large_intestine COSM4533201 SP140_ENST00000392045 c.1955G>A p.R652Q Substitution - Missense Skin COSM1283496 ARID1A c.3416G>T p.G1139V Substitution - Missense Autonomic_ganglia COSM96359 BAP1 c.256-13_256-1del p.? Unknown Pleura COSM3523578 BAHCC1 c.657C>T p.L219L Substitution - coding silent Skin COSM1737882 TET2 c.3578G>A p.C1193Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM923603 KMT2A c.11210C>T p.A3737V Substitution - Missense Endometrium COSM1039203 ZBTB38 c.2426C>A p.A809D Substitution - Missense Endometrium COSM1717558 KDM6A c.1556G>C p.R519P Substitution - Missense Central_nervous_system COSM4666266 BRWD3 c.1160C>T p.T387M Substitution - Missense Large_intestine COSM88749 CREBBP c.4336C>T p.R1446C Substitution - Missense Lung COSM1442452 HDGFL1 c.372C>T p.G124G Substitution - coding silent Large_intestine COSM4426648 PRDM13 c.778G>A p.D260N Substitution - Missense Upper_aerodigestive_tract COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM720784 NCOA1 c.4044G>T p.M1348I Substitution - Missense Lung COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3991185 ATAD2B_ENST00000238789 c.720A>C p.S240S Substitution - coding silent Kidney COSM1677507 ZMYM5 c.937T>G p.F313V Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM52923 BAP1 c.353_372del20 p.F118fs*1 Deletion - Frameshift Eye COSM3420903 JMJD5 c.1179C>A p.F393L Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM88748 CREBBP c.4337G>A p.R1446H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13921 SMARCA4 c.2290T>A p.W764R Substitution - Missense Lung COSM5427613 PRDM9 c.2284C>T p.H762Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3762429 JHDM1D c.1612A>C p.R538R Substitution - coding silent Large_intestine COSM4092806 ATAD2B_ENST00000238789 c.2046G>A p.L682L Substitution - coding silent Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM303357 TCF20 c.1670G>T p.G557V Substitution - Missense Central_nervous_system COSM4444415 KMT2D c.10370G>A p.R3457H Substitution - Missense Large_intestine COSM4651938 PRDM11 c.1526G>A p.C509Y Substitution - Missense Large_intestine COSM5756080 SMEK2 c.283G>A p.E95K Substitution - Missense Large_intestine COSM724366 EYA2 c.228G>A p.A76A Substitution - coding silent Pancreas COSM1583099 DNMT3A c.2150A>G p.N717S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1342127 ZMYM4 c.1282delA p.K430fs*6 Deletion - Frameshift Large_intestine COSM140279 C20orf20 c.217C>T p.P73S Substitution - Missense Skin COSM5062358 HDAC9 c.52C>A p.L18M Substitution - Missense Stomach COSM1388716 SETBP1 c.2740C>T p.R914W Substitution - Missense Large_intestine COSM1660654 ATAD2 c.2773G>C p.D925H Substitution - Missense Kidney COSM4383803 TET2 c.1355delA p.E452fs*34 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4824099 KMT2C c.6658C>T p.Q2220* Substitution - Nonsense Cervix COSM5944974 DNMT3A c.1226G>C p.W409S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1578726 DNMT3A c.1237G>A p.G413S Substitution - Missense Meninges COSM3608576 PHF15 c.1784G>A p.R595Q Substitution - Missense Skin COSM702818 GTF3C1 c.2796A>T p.E932D Substitution - Missense Lung COSM4930039 BAZ2B c.4592C>T p.T1531I Substitution - Missense Liver COSM322620 PHF20 c.2729C>G p.S910C Substitution - Missense Lung COSM6006365 PBRM1 c.3862A>G p.I1288V Substitution - Missense Skin COSM4411410 EPC1 c.2204T>A p.L735Q Substitution - Missense Kidney COSM5435345 CHD6 c.1136G>A p.R379H Substitution - Missense Oesophagus COSM34039 IDH2 c.514A>T p.R172W Substitution - Missense Biliary_tract COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Stomach COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM42675 KAT6B c.3949G>A p.A1317T Substitution - Missense Central_nervous_system COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM51990 BAP1 c.495_519del25 p.E166fs*13 Deletion - Frameshift Eye COSM49154 EZH2 c.2068C>T p.R690C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM107494 TRRAP c.2165C>T p.S722F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96928 TET2 c.(1176_1179)insT p.(S393_A394)fs*(49_50) Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM116037 KDM3B c.248A>G p.H83R Substitution - Missense Ovary COSM87166 TET2 c.4183+2_4183+3insT p.? Unknown Haematopoietic_and_lymphoid_tissue COSM108464 SMARCB1 c.549C>T p.P183P Substitution - coding silent Skin COSM125565 PRDM9 c.31C>A p.P11T Substitution - Missense Large_intestine COSM130277 ZBTB33 c.1283C>T p.S428L Substitution - Missense Upper_aerodigestive_tract COSM133587 ASXL1 c.2597T>C p.L866S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Soft_tissue COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Soft_tissue COSM211753 TET2 c.5939_5940delCA p.T1980fs*24 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM212182 KAT6B c.3761G>A p.R1254H Substitution - Missense Breast COSM217157 SMARCA4 c.3531C>A p.D1177E Substitution - Missense Liver COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Prostate COSM244058 DMAP1 c.277C>T p.R93W Substitution - Missense Stomach COSM256806 DNMT3B c.1261G>A p.A421T Substitution - Missense Large_intestine COSM376122 TRIM24 c.2078G>T p.S693I Substitution - Missense Lung COSM423065 PBRM1 c.1305delA p.K436fs*2 Deletion - Frameshift Kidney COSM443688 NCOA6 c.964C>G p.P322A Substitution - Missense Breast COSM985384 KDM6B c.3737G>A p.R1246H Substitution - Missense Endometrium COSM984416 ZBTB4 c.1871G>A p.R624H Substitution - Missense Endometrium COSM482769 NIPBL c.3924G>A p.A1308A Substitution - coding silent Kidney COSM1046985 BAP1 c.2099G>A p.R700Q Substitution - Missense Endometrium COSM1051391 SETD7 c.934C>T p.R312C Substitution - Missense Endometrium COSM1026069 NCOA6 c.4469C>T p.S1490L Substitution - Missense Endometrium COSM939986 KMT2D c.14507G>A p.R4836H Substitution - Missense Upper_aerodigestive_tract COSM1023554 SMYD1 c.958C>T p.R320C Substitution - Missense Endometrium COSM1030661 BRWD1 c.6393G>A p.S2131S Substitution - coding silent Endometrium COSM919475 JMJD1C c.4299G>T p.K1433N Substitution - Missense Endometrium COSM732613 PHF17 c.863A>C p.E288A Substitution - Missense Lung COSM738986 BRD9 c.969G>T p.V323V Substitution - coding silent Lung COSM999819 KDM4B c.1524C>T p.V508V Substitution - coding silent Oesophagus COSM1602158 ARID1A c.6700_6702delGCT p.A2235delA Deletion - In frame Liver COSM1075351 ARID1B c.4021G>T p.G1341* Substitution - Nonsense Endometrium COSM1061333 KDM3B c.1961C>T p.S654F Substitution - Missense Endometrium COSM1093578 TRRAP c.2238C>T p.L746L Substitution - coding silent Endometrium COSM1238051 TET2 c.5416C>T p.H1806Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1257418 MBTD1 c.495C>A p.F165L Substitution - Missense Oesophagus COSM1222799 PWWP2B c.1650T>G p.F550L Substitution - Missense Large_intestine COSM1186317 PBRM1 c.1816C>T p.Q606* Substitution - Nonsense Lung COSM1287108 PHF15 c.1519C>A p.Q507K Substitution - Missense Autonomic_ganglia COSM1296331 ZMYM6 c.3873G>C p.L1291F Substitution - Missense Urinary_tract COSM1306982 SMYD5 c.69C>T p.P23P Substitution - coding silent Urinary_tract COSM1321683 PRDM11 c.1220A>T p.K407M Substitution - Missense Ovary COSM42029 TET2 c.3646C>T p.R1216* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1326792 NCOA6 c.2303C>T p.P768L Substitution - Missense Ovary COSM1326817 ASXL1 c.555A>G p.E185E Substitution - coding silent Ovary COSM1378193 BRD7 c.325G>A p.A109T Substitution - Missense Large_intestine COSM1382746 PCGF2 c.209+1G>A p.? Unknown Large_intestine COSM1414093 BRWD1 c.3747A>G p.S1249S Substitution - coding silent Large_intestine COSM1440430 L3MBTL3 c.1838G>T p.R613I Substitution - Missense Large_intestine COSM1443232 TCF19 c.65_66insC p.A25fs*17 Insertion - Frameshift Large_intestine COSM1360391 ATF7IP c.952_953insA p.N320fs*4 Insertion - Frameshift Large_intestine COSM1569346 EHMT1 c.2992G>A p.V998M Substitution - Missense Large_intestine COSM1625262 PHF2 c.170A>G p.H57R Substitution - Missense Liver COSM1579804 HDAC7 c.2698C>T p.R900C Substitution - Missense Central_nervous_system COSM1639808 ARID1A c.822delG p.G276fs*87 Deletion - Frameshift Stomach COSM1671594 NIPBL c.8108A>G p.E2703G Substitution - Missense Large_intestine COSM1672147 NSD1 c.4552G>T p.G1518C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1677162 YEATS4 c.224G>A p.G75D Substitution - Missense Large_intestine COSM1719241 KDM1B c.938A>G p.N313S Substitution - Missense Skin COSM1716187 DOT1L c.1773G>A p.A591A Substitution - coding silent Central_nervous_system COSM1737512 BRD9 c.877G>A p.A293T Substitution - Missense Large_intestine COSM1736930 IDH2 c.484C>T p.P162S Substitution - Missense Central_nervous_system COSM1746469 DPF2 c.902C>G p.S301* Substitution - Nonsense Urinary_tract COSM1965163 KAT6B c.4569C>T p.V1523V Substitution - coding silent Large_intestine COSM2153201 BRPF3 c.3024C>T p.S1008S Substitution - coding silent Central_nervous_system COSM2183534 POGZ c.3789A>G p.P1263P Substitution - coding silent Large_intestine COSM2175962 KDM2B c.187_189delGAG p.E63delE Deletion - In frame Soft_tissue COSM2149922 SETD1A c.4627_4628delCT p.L1543fs*13 Deletion - Frameshift Central_nervous_system COSM2098605 CHD4 c.1542A>G p.P514P Substitution - coding silent Liver COSM3026275 STK31 c.370C>T p.R124* Substitution - Nonsense Large_intestine COSM3226812 SIRT6 c.757C>T p.R253C Substitution - Missense Large_intestine COSM3304207 KMT2C c.4889C>T p.S1630L Substitution - Missense Large_intestine COSM3296137 MBD5 c.1536C>T p.S512S Substitution - coding silent Skin COSM3358561 PBRM1 c.810delC p.F270fs*13 Deletion - Frameshift Kidney COSM3394269 PHF3 c.4535A>G p.N1512S Substitution - Missense Pancreas COSM3377105 ARID1A c.2296C>T p.Q766* Substitution - Nonsense Liver COSM3410216 PRDM9 c.679G>T p.D227Y Substitution - Missense Central_nervous_system COSM3479305 TDRD5 c.1893C>T p.I631I Substitution - coding silent Skin COSM3488888 ZMYM4 c.2077C>A p.L693I Substitution - Missense Skin COSM3500897 BAHD1 c.862C>T p.P288S Substitution - Missense Skin COSM3461575 KMT2D c.5794C>T p.P1932S Substitution - Missense Skin COSM3559665 MECP2 c.255C>T p.R85R Substitution - coding silent Skin COSM3531068 GATAD2A c.1211C>T p.P404L Substitution - Missense Large_intestine COSM3527170 L3MBTL4 c.958G>A p.D320N Substitution - Missense Skin COSM3711920 SRCAP c.8679C>A p.D2893E Substitution - Missense Upper_aerodigestive_tract COSM3735913 PRMT6 c.404C>T p.A135V Substitution - Missense Large_intestine COSM3745369 PHIP c.5172A>G p.K1724K Substitution - coding silent Liver COSM3814234 YY1 c.1032A>C p.Q344H Substitution - Missense Breast COSM3795821 MBTD1 c.145G>C p.E49Q Substitution - Missense Urinary_tract COSM3948481 SRCAP c.6535A>C p.K2179Q Substitution - Missense Ovary COSM3952657 TAF1L c.1808T>G p.F603C Substitution - Missense Lung COSM3972987 EP300 c.4353T>C p.H1451H Substitution - coding silent Central_nervous_system COSM3953703 KDM2A c.1396G>A p.D466N Substitution - Missense Lung COSM4050622 BAZ1A c.3277C>T p.R1093W Substitution - Missense Stomach COSM4051447 ARID4A c.3049C>T p.R1017* Substitution - Nonsense Large_intestine COSM4000036 SMYD4 c.1145C>G p.P382R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4061903 CTCF c.1016G>A p.R339Q Substitution - Missense Stomach COSM4159920 C5orf35 c.625A>G p.K209E Substitution - Missense Pancreas COSM4169906 TET2 c.3796A>C p.N1266H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4170129 TET2 c.5499delC p.Q1834fs*53 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4383823 TET2 c.1776T>G p.Y592* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4393899 RNF17 c.46C>T p.Q16* Substitution - Nonsense Skin COSM4596520 NCOA7 c.2723A>T p.D908V Substitution - Missense Upper_aerodigestive_tract COSM4433705 MLL5 c.1144G>T p.V382L Substitution - Missense Oesophagus COSM4487431 RBBP5 c.318C>T p.F106F Substitution - coding silent Skin COSM4502601 MTA1 c.617C>A p.T206K Substitution - Missense Skin COSM4459579 SFMBT1 c.1130C>T p.P377L Substitution - Missense Skin COSM4451101 EYA1 c.1060A>C p.T354P Substitution - Missense Skin COSM4449393 CHD1 c.2189delT p.L730fs*1 Deletion - Frameshift Skin COSM4449726 DIDO1 c.3131delG p.G1044fs*76 Deletion - Frameshift Skin COSM4474693 KAT6B c.1936C>T p.P646S Substitution - Missense Skin COSM4769731 PRDM8 c.345C>G p.R115R Substitution - coding silent Biliary_tract COSM4742161 ZBTB4 c.1260G>A p.M420I Substitution - Missense Large_intestine COSM4693801 JARID2 c.1635C>T p.G545G Substitution - coding silent Large_intestine COSM4693809 JARID2 c.2637A>G p.V879V Substitution - coding silent Large_intestine COSM4714165 PHRF1 c.35G>A p.R12Q Substitution - Missense Large_intestine COSM4645138 KMT2D c.9833C>T p.T3278I Substitution - Missense Large_intestine COSM4752031 SRCAP c.7330C>T p.R2444* Substitution - Nonsense Stomach COSM4938531 SMCHD1 c.1071T>C p.P357P Substitution - coding silent Liver COSM4932078 NSD1 c.2554A>G p.I852V Substitution - Missense Liver COSM4826844 NIPBL c.7889C>T p.P2630L Substitution - Missense Cervix COSM4994588 JMJD1C c.5111T>G p.L1704R Substitution - Missense Large_intestine COSM4995130 KMT2D c.15073G>A p.G5025R Substitution - Missense Upper_aerodigestive_tract COSM5003449 SMCHD1 c.673A>T p.K225* Substitution - Nonsense Pancreas COSM5027333 PHRF1 c.2729C>A p.A910D Substitution - Missense Breast COSM5015781 GTF3C4 c.1979G>C p.G660A Substitution - Missense Kidney COSM5015859 ZMYM4 c.240delA p.G81fs*33 Deletion - Frameshift Kidney COSM5346958 ARID1A c.192_193insC p.P66fs*45 Insertion - Frameshift Endometrium COSM5404070 CHD1 c.1871C>T p.S624F Substitution - Missense Skin COSM5394456 MBD5 c.2225C>T p.P742L Substitution - Missense Skin COSM5413037 TAF1 c.5503G>A p.E1835K Substitution - Missense Skin COSM5355397 DHX30 c.1358T>C p.V453A Substitution - Missense Large_intestine COSM5419615 PRMT7 c.1427T>G p.L476R Substitution - Missense Liver COSM5513315 HDAC5 c.2500G>A p.A834T Substitution - Missense Biliary_tract COSM5472278 TDRD6 c.123C>T p.G41G Substitution - coding silent Large_intestine COSM5471919 PRDM8 c.1446C>T p.A482A Substitution - coding silent Large_intestine COSM5422921 TRIM24 c.2866T>G p.Y956D Substitution - Missense Prostate COSM5630657 ARID1A c.5381delA p.D1794fs*12 Deletion - Frameshift Oesophagus COSM5636966 WHSC1L1 c.1679C>T p.S560L Substitution - Missense Oesophagus COSM5734878 BRDT c.231T>A p.N77K Substitution - Missense Pancreas COSM5724266 NCOR1 c.55C>T p.R19C Substitution - Missense Skin COSM5722748 SETBP1 c.3739G>A p.E1247K Substitution - Missense Skin COSM5721443 EHMT1 c.344C>T p.S115L Substitution - Missense Skin COSM5585431 HNF1A c.1395C>T p.S465S Substitution - coding silent Skin COSM5600338 RAI1 c.5001C>T p.S1667S Substitution - coding silent Skin COSM5611046 TRRAP c.3407C>T p.P1136L Substitution - Missense Skin COSM5662388 GTF3C1 c.46C>T p.L16F Substitution - Missense Soft_tissue COSM5781158 ASH1L c.1114T>C p.L372L Substitution - coding silent Breast COSM5779471 KIAA2026_ENST00000399933 c.4048C>T p.Q1350* Substitution - Nonsense Breast COSM5815905 BPTF c.6532C>T p.Q2178* Substitution - Nonsense Liver COSM5825057 BRD1 c.1193T>G p.L398R Substitution - Missense Pancreas COSM5952182 PHF12 c.1748G>A p.R583Q Substitution - Missense Oesophagus COSM5885340 ATF2 c.744C>T p.L248L Substitution - coding silent Urinary_tract COSM5921846 EP300 c.2296C>T p.P766S Substitution - Missense Skin COSM5897964 SUZ12 c.1351C>T p.P451S Substitution - Missense Skin COSM5888741 BRPF1 c.1895C>T p.P632L Substitution - Missense Skin COSM5962905 ORC1 c.130G>A p.E44K Substitution - Missense Breast COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM120501 DNMT3A c.? p.K766fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM87296 IKZF1 c.1-?_421+?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1125428 ATRX c.4844A>G p.D1615G Substitution - Missense Endometrium COSM4646970 PHRF1 c.3538C>T p.R1180C Substitution - Missense Large_intestine COSM738286 PRDM9 c.368C>A p.S123* Substitution - Nonsense Lung COSM1724957 SFMBT2 c.2437_2439delGAG p.E813delE Deletion - In frame Skin COSM4628236 BRPF1 c.3611A>G p.H1204R Substitution - Missense Large_intestine COSM4169984 MUM1 c.1401T>G p.D467E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1107185 EHMT1 c.3103G>A p.D1035N Substitution - Missense Endometrium COSM4832693 LMNB2 c.1122C>T p.L374L Substitution - coding silent Cervix COSM4657053 PHF2 c.233A>T p.D78V Substitution - Missense Large_intestine COSM4666267 BRWD3 c.986-2A>G p.? Unknown Large_intestine COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM450360 HDAC2 c.523G>A p.D175N Substitution - Missense Breast COSM1406743 ATAD2B_ENST00000238789 c.1404delT p.F468fs*9 Deletion - Frameshift Large_intestine COSM86082 KMT2C c.2418C>G p.S806S Substitution - coding silent Upper_aerodigestive_tract COSM1312897 KMT2C c.1066C>G p.Q356E Substitution - Missense Urinary_tract COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM5984106 JMJD6 c.31G>T p.E11* Substitution - Nonsense Upper_aerodigestive_tract COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM1038795 HDAC11 c.44G>A p.R15H Substitution - Missense Endometrium COSM4028653 LBR c.1328C>T p.T443M Substitution - Missense Stomach COSM234111 SP110 c.752-10C>T p.? Unknown Skin COSM274164 BRD8 c.2896G>A p.E966K Substitution - Missense Large_intestine COSM4694932 KDM3A c.1739A>C p.K580T Substitution - Missense Large_intestine COSM4689588 HCFC1 c.3562G>A p.V1188M Substitution - Missense Large_intestine COSM1074201 SHPRH c.2155C>T p.L719L Substitution - coding silent Endometrium COSM5720515 NSD1 c.6635C>T p.P2212L Substitution - Missense Skin COSM4919661 TAF1 c.5372A>G p.H1791R Substitution - Missense Liver COSM3742657 L3MBTL4 c.1712A>C p.D571A Substitution - Missense Liver COSM1664749 TTF2 c.1004C>T p.A335V Substitution - Missense Kidney COSM2965377 KDM6A c.2202T>G p.T734T Substitution - coding silent Kidney COSM52814 PBRM1 c.1822delT p.Y608fs*34 Deletion - Frameshift Kidney COSM1673710 KMT2C c.5854T>G p.L1952V Substitution - Missense Large_intestine COSM4548755 KAT6B c.4563G>A p.K1521K Substitution - coding silent Skin COSM980585 CBX1 c.394_399delCTCATG p.L132_M133delLM Deletion - In frame Endometrium COSM2098497 CHD4 c.3113G>A p.G1038D Substitution - Missense Large_intestine COSM3681453 TCF20 c.5618A>C p.Y1873S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM443954 NCOA3 c.3762A>G p.Q1254Q Substitution - coding silent Large_intestine COSM265253 ARID2 c.854G>A p.R285Q Substitution - Missense Skin COSM908383 PRDM16 c.3060G>T p.Q1020H Substitution - Missense Endometrium COSM4110248 PHF8 c.924A>G p.G308G Substitution - coding silent Stomach COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Biliary_tract COSM5550300 MTA1 c.187G>A p.A63T Substitution - Missense Prostate COSM1072908 NCOA7 c.241C>T p.R81C Substitution - Missense Endometrium COSM4264056 RAI1 c.4542G>A p.R1514R Substitution - coding silent Large_intestine COSM4540845 ZMYND8 c.28G>A p.E10K Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52817 PBRM1 c.405_418del14 p.K135fs*11 Deletion - Frameshift Kidney COSM5384753 SRCAP c.6508C>G p.R2170G Substitution - Missense Skin COSM5020474 EZH2 c.2110+6T>G p.? Unknown Soft_tissue COSM1416476 EP300 c.3729-2A>T p.? Unknown Large_intestine COSM4100187 DIDO1 c.4217G>A p.R1406Q Substitution - Missense Stomach COSM5480484 PRDM9 c.25G>A p.E9K Substitution - Missense Large_intestine COSM4333259 SCML2 c.947A>G p.K316R Substitution - Missense Biliary_tract COSM5380513 ARID1A c.2656C>T p.P886S Substitution - Missense Skin COSM3735476 SETD3 c.1558C>T p.P520S Substitution - Missense Skin COSM1668955 SMEK2 c.268T>C p.C90R Substitution - Missense Large_intestine COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM5078967 ZMYM5 c.825_828delCTTC p.F276fs*11 Deletion - Frameshift Large_intestine COSM3557683 SMARCA1 c.514G>T p.E172* Substitution - Nonsense Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM3435845 PWWP2B c.1340C>T p.S447L Substitution - Missense Skin COSM3438385 ERCC6 c.1996C>T p.R666C Substitution - Missense Large_intestine COSM1387292 BAHCC1 c.4709delC p.R1574fs*107 Deletion - Frameshift Large_intestine COSM4145532 PRDM10 c.2466G>A p.T822T Substitution - coding silent Thyroid COSM3423697 EYA2 c.277G>T p.A93S Substitution - Missense Large_intestine COSM4659085 ACTA1 c.1032C>T p.G344G Substitution - coding silent Large_intestine COSM1079917 TDRD6 c.5569C>T p.Q1857* Substitution - Nonsense Endometrium COSM4615086 NIPBL c.344_348delGATAT p.R115fs*11 Deletion - Frameshift Large_intestine COSM4634454 TFPT c.707G>A p.R236Q Substitution - Missense Large_intestine COSM4877641 DIDO1 c.3637G>A p.E1213K Substitution - Missense Prostate COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1040968 MECOM c.1585T>C p.S529P Substitution - Missense Endometrium COSM4172323 SETD2 c.6109A>C p.T2037P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM50548 TDRD6 c.5416G>C p.E1806Q Substitution - Missense Breast COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5600286 PRMT10 c.743G>A p.R248K Substitution - Missense Skin COSM423287 PBRM1 c.4448_4449insC p.T1484fs*25 Insertion - Frameshift Kidney COSM5451619 EPC2 c.496G>A p.E166K Substitution - Missense Large_intestine COSM1608494 PYGO1 c.453T>C p.H151H Substitution - coding silent Liver COSM939994 KMT2D c.13619A>C p.K4540T Substitution - Missense Endometrium COSM4384088 NSD1 c.6323delG p.T2109fs*41 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM32457 HDAC4 c.2180C>G p.P727R Substitution - Missense Breast COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4020103 PRMT6 c.5T>A p.I2N Substitution - Missense Stomach COSM5611050 TRRAP c.8151G>A p.E2717E Substitution - coding silent Skin COSM1493381 MGA c.430C>G p.P144A Substitution - Missense Kidney COSM5896245 INOC1 c.1923C>A p.F641L Substitution - Missense Skin COSM907744 ARID1A c.5650A>T p.T1884S Substitution - Missense Endometrium COSM1041045 PHC3 c.167G>A p.R56Q Substitution - Missense Endometrium COSM1349126 KAT6B c.3261G>T p.E1087D Substitution - Missense Large_intestine COSM1391828 GATAD2A c.1406G>A p.R469H Substitution - Missense Large_intestine COSM190721 MBD2 c.676C>T p.R226* Substitution - Nonsense Stomach COSM5021116 MYST3 c.600+5G>T p.? Unknown Soft_tissue COSM1214647 MBD6 c.1121G>A p.R374Q Substitution - Missense Large_intestine COSM4883745 PRDM16 c.815G>T p.G272V Substitution - Missense Soft_tissue COSM368180 PRDM9 c.1594G>C p.G532R Substitution - Missense Lung COSM302468 KDM5C c.2764delC p.Q922fs*13 Deletion - Frameshift Central_nervous_system COSM1997439 ACTA1 c.638A>G p.D213G Substitution - Missense Large_intestine COSM1045695 DHX30 c.2574C>G p.I858M Substitution - Missense Endometrium COSM5675911 RBBP4 c.205G>A p.G69R Substitution - Missense Soft_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3372674 SP140_ENST00000392045 c.1459G>A p.A487T Substitution - Missense Thyroid COSM4169860 TET2 c.2230C>T p.Q744* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5806677 BAG6 c.355G>T p.G119W Substitution - Missense Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5893473 KAT6B c.1085C>T p.S362F Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4777937 CHD4 c.2627A>G p.H876R Substitution - Missense Prostate COSM5352282 ARID1A c.? p.R1989* Substitution - Nonsense Endometrium COSM3429363 PRDM9 c.2272C>T p.R758C Substitution - Missense Pancreas COSM914342 ASXL1 c.? p.Y591* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1262947 PRDM14 c.505T>G p.L169V Substitution - Missense Stomach COSM5663243 EP400 c.2926G>T p.G976* Substitution - Nonsense Soft_tissue COSM5789225 ZBTB38 c.2619G>A p.E873E Substitution - coding silent Breast COSM307760 TET2 c.? p.Q403* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3668117 SMCHD1 c.269A>T p.Y90F Substitution - Missense Liver COSM4140202 DNMT1 c.2601G>C p.L867L Substitution - coding silent Ovary COSM3494294 MTA1 c.2001G>A p.K667K Substitution - coding silent Skin COSM284282 PRMT6 c.366C>T p.G122G Substitution - coding silent Large_intestine COSM1179692 DNMT3L c.454G>A p.G152R Substitution - Missense Prostate COSM1380021 CDYL2 c.743G>A p.R248Q Substitution - Missense Large_intestine COSM1185277 PRDM16 c.1459G>A p.E487K Substitution - Missense Lung COSM242544 IDH1 c.356G>A p.R119Q Substitution - Missense Prostate COSM4790697 JMJD6 c.842C>G p.T281S Substitution - Missense Liver COSM4790145 HCFC1 c.2520G>A p.T840T Substitution - coding silent Liver COSM305332 KIAA2026_ENST00000399933 c.2257delA p.T753fs*3 Deletion - Frameshift Central_nervous_system COSM5360089 ZMYND11 c.1059A>C p.P353P Substitution - coding silent Large_intestine COSM5180839 MTA1 c.1722C>T p.N574N Substitution - coding silent Large_intestine COSM287864 SRCAP c.6627G>C p.L2209L Substitution - coding silent Large_intestine COSM437780 BAHCC1 c.4053C>T p.A1351A Substitution - coding silent Thyroid COSM1658954 SMARCA2 c.2564G>A p.R855Q Substitution - Missense Large_intestine COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716799 TET2 c.? p.Q317fs*30 Frameshift Haematopoietic_and_lymphoid_tissue COSM4626094 TRRAP c.3431G>A p.R1144H Substitution - Missense Large_intestine COSM896616 TDRD10 c.141+1G>A p.? Unknown Endometrium COSM5654240 KMT2D c.282T>C p.C94C Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1696224 KDM3B c.4888C>T p.R1630* Substitution - Nonsense Skin COSM4924898 PRDM2 c.3948A>T p.T1316T Substitution - coding silent Liver COSM1050499 PRDM5 c.1362T>C p.V454V Substitution - coding silent Endometrium COSM5800215 ADNP c.144G>C p.L48F Substitution - Missense Breast COSM4598780 KDM5C c.1596G>T p.K532N Substitution - Missense Upper_aerodigestive_tract COSM292890 SMC1A c.2132G>T p.R711L Substitution - Missense Large_intestine COSM468037 EP400 c.8226A>G p.Q2742Q Substitution - coding silent Skin COSM39560 PHC3 c.1560G>A p.Q520Q Substitution - coding silent Central_nervous_system COSM3615184 PRDM9 c.10G>A p.E4K Substitution - Missense Skin COSM909901 KDM4A c.3073C>T p.R1025C Substitution - Missense Endometrium COSM5758322 ATRX c.1676C>A p.S559* Substitution - Nonsense Bone COSM4987716 NCOA3 c.1758G>C p.Q586H Substitution - Missense Soft_tissue COSM720298 SP110 c.1940A>C p.K647T Substitution - Missense Lung COSM5681497 SFMBT2 c.431C>G p.P144R Substitution - Missense Soft_tissue COSM4038165 TDG c.329G>A p.R110H Substitution - Missense Stomach COSM1713599 EYA2 c.941A>G p.N314S Substitution - Missense Skin COSM693905 ARID2 c.2250G>T p.G750G Substitution - coding silent Lung COSM3712047 CHD9 c.6951C>T p.P2317P Substitution - coding silent Upper_aerodigestive_tract COSM273490 ZCWPW2 c.801A>C p.E267D Substitution - Missense Oesophagus COSM4819788 SUV420H1 c.1362G>C p.L454F Substitution - Missense Cervix COSM4591901 NCOR1 c.618+6T>A p.? Unknown Upper_aerodigestive_tract COSM88739 CREBBP c.4349A>G p.Y1450C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4720588 RBBP7 c.184C>A p.L62I Substitution - Missense Large_intestine COSM4166530 TET2 c.? p.S1059fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM4877567 PHF1 c.1639C>T p.R547W Substitution - Missense Prostate COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4100480 ZGPAT c.882G>A p.S294S Substitution - coding silent Stomach COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1945448 PRDM4 c.2385G>A p.E795E Substitution - coding silent Large_intestine COSM3762512 KMT2C c.8685G>A p.Q2895Q Substitution - coding silent Large_intestine COSM1299143 EP400 c.8199G>A p.Q2733Q Substitution - coding silent Urinary_tract COSM4801063 ING1 c.313C>A p.Q105K Substitution - Missense Liver COSM4656373 PHF21B c.908G>A p.R303Q Substitution - Missense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM473841 SETBP1 c.3577G>T p.A1193S Substitution - Missense Kidney COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1383594 HDAC5 c.2793delC p.I932fs*14 Deletion - Frameshift Large_intestine COSM961541 MGA c.8384A>C p.K2795T Substitution - Missense Endometrium COSM3413105 NCOA2 c.2620C>T p.R874* Substitution - Nonsense Biliary_tract COSM351684 TRRAP c.648G>T p.P216P Substitution - coding silent Lung COSM4708341 NSD1 c.617C>T p.A206V Substitution - Missense Large_intestine COSM96374 BAP1 c.284C>A p.A95D Substitution - Missense Eye COSM4701399 MECP2 c.1342delG p.E448fs*34 Deletion - Frameshift Large_intestine COSM1756600 SUV39H1 c.939C>A p.A313A Substitution - coding silent Urinary_tract COSM4163285 PHF19 c.407A>C p.D136A Substitution - Missense Upper_aerodigestive_tract COSM3761842 TCF19 c.722C>T p.P241L Substitution - Missense Large_intestine COSM371330 CHD3 c.700A>C p.I234L Substitution - Missense Thyroid COSM895841 POGZ c.1368C>T p.N456N Substitution - coding silent Endometrium COSM390677 KMT2C c.13406G>T p.G4469V Substitution - Missense Lung COSM3795005 CTCF c.1051T>C p.F351L Substitution - Missense Urinary_tract COSM259538 ATAD2B_ENST00000238789 c.2128G>T p.E710* Substitution - Nonsense Large_intestine COSM3626163 BRPF3 c.1476C>T p.S492S Substitution - coding silent Skin COSM4042342 KMT2D c.13601C>T p.A4534V Substitution - Missense Stomach COSM5656403 BAP1 c.? p.F170C Substitution - Missense Pleura COSM1188290 MEN1 c.1508G>A p.G503D Substitution - Missense Lung COSM3705787 PRDM16 c.2618G>A p.R873Q Substitution - Missense Liver COSM4444465 CHD8 c.3790G>A p.E1264K Substitution - Missense Large_intestine COSM302471 KDM6A c.3154_3155insA p.R1054fs*5 Insertion - Frameshift Central_nervous_system COSM5397552 SMYD1 c.17T>A p.M6K Substitution - Missense Skin COSM3559646 HCFC1 c.1248C>T p.T416T Substitution - coding silent Skin COSM1314791 KIAA1045 c.779G>A p.R260Q Substitution - Missense Kidney COSM328665 GTF3C1 c.5905T>C p.S1969P Substitution - Missense Liver COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1683969 MECOM c.2730delA p.T912fs*6 Deletion - Frameshift Prostate COSM6004914 BRD1 c.2342C>G p.P781R Substitution - Missense Prostate COSM1682269 CBX6 c.947C>T p.S316F Substitution - Missense Soft_tissue COSM5430699 SIRT4 c.202G>T p.E68* Substitution - Nonsense Oesophagus COSM1427014 PHF17 c.1174_1175insC p.R394fs*11 Insertion - Frameshift Large_intestine COSM5965034 BRWD1 c.223C>A p.P75T Substitution - Missense Breast COSM741905 BAG6 c.2635G>T p.G879W Substitution - Missense Lung COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Bone COSM4416352 TDRD5 c.1113G>A p.K371K Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3723034 PHF2 c.2976C>A p.T992T Substitution - coding silent Thyroid COSM3408291 ZBTB38 c.2715C>T p.D905D Substitution - coding silent Central_nervous_system COSM5597770 TRRAP c.6759C>T p.T2253T Substitution - coding silent Skin COSM3756106 AP001011.3_ENST00000320876 c.174G>C p.A58A Substitution - coding silent Thyroid COSM255213 MEN1 c.1621A>G p.T541A Substitution - Missense Soft_tissue COSM419697 ACTL6A c.280G>A p.E94K Substitution - Missense Urinary_tract COSM1360187 EP400 c.8184G>A p.Q2728Q Substitution - coding silent Stomach COSM4951625 PHF21B c.250G>A p.V84I Substitution - Missense Liver COSM4006802 TRRAP c.4436T>G p.V1479G Substitution - Missense Urinary_tract COSM108560 PRDM16 c.2786C>T p.P929L Substitution - Missense Skin COSM1347017 SUV39H2 c.339C>T p.N113N Substitution - coding silent Large_intestine COSM3525878 SETBP1 c.4373G>A p.R1458K Substitution - Missense Skin COSM4403594 HDAC1 c.637-1G>A p.? Unknown Skin COSM1012908 ASXL1 c.1879_1880insG p.A627fs*8 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM133038 EZH2 c.2035G>A p.V679M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1159744 CREBBP c.5038_5039insT p.S1680fs*55 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41649 TET2 c.4075C>T p.R1359C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM120499 DNMT3A c.2638A>G p.M880V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1047213 SFMBT1 c.2041C>T p.R681C Substitution - Missense Large_intestine COSM4921634 ZMYM3 c.2671T>C p.S891P Substitution - Missense Liver COSM1602154 ARID1A c.5683G>T p.E1895* Substitution - Nonsense Lung COSM3779770 GTF3C4 c.628G>C p.E210Q Substitution - Missense Urinary_tract COSM3425271 EPC2 c.2272T>A p.L758I Substitution - Missense Large_intestine COSM1333900 SETDB1 c.3766C>T p.R1256W Substitution - Missense Liver COSM1029002 DIDO1 c.25A>G p.N9D Substitution - Missense Endometrium COSM3185386 CAMKMT c.579G>A p.R193R Substitution - coding silent Large_intestine COSM225800 DIDO1 c.1658C>T p.P553L Substitution - Missense Skin COSM3989661 SMARCA4 c.1889G>C p.G630A Substitution - Missense Kidney COSM4138722 CHD7 c.5344C>A p.P1782T Substitution - Missense Kidney COSM1645281 MEN1 c.484G>T p.V162F Substitution - Missense Large_intestine COSM203096 ATAD2 c.354delA p.E119fs*8 Deletion - Frameshift Large_intestine COSM271115 ATF2 c.1398C>A p.T466T Substitution - coding silent Large_intestine COSM5751424 SETBP1 c.1537T>CT p.S513fs*28 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM1380018 CDYL2 c.1129G>A p.A377T Substitution - Missense Large_intestine COSM1220382 PHF3 c.2815C>G p.L939V Substitution - Missense Large_intestine COSM4964756 NCOR1 c.5281G>A p.V1761I Substitution - Missense Pancreas COSM1325352 LMNB2 c.530A>T p.Q177L Substitution - Missense Ovary COSM4788603 MYST2 c.1146C>A p.R382R Substitution - coding silent Liver COSM53247 TET2 c.1379C>T p.S460F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1388722 SETBP1 c.2959C>T p.R987W Substitution - Missense Skin COSM6006533 SCMH1 c.469T>A p.W157R Substitution - Missense Prostate COSM947869 SETDB2 c.677C>A p.T226N Substitution - Missense Endometrium COSM3870487 KDM4D c.1131C>T p.L377L Substitution - coding silent Skin COSM3396125 ASH1L c.8147A>T p.H2716L Substitution - Missense Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM13399 MSH6 c.3246G>T p.P1082P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5373356 KDM2A c.402G>A p.E134E Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM141234 MYST3 c.80C>T p.P27L Substitution - Missense Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1240707 ZGPAT c.790G>A p.G264S Substitution - Missense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5749868 PHIP c.3059G>A p.C1020Y Substitution - Missense Genital_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1660734 BAZ2A_ENST00000379441 c.1444T>G p.L482V Substitution - Missense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Prostate COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3668829 BAZ2B c.1790A>G p.D597G Substitution - Missense Liver COSM4007336 ZMYM1 c.2124G>A p.M708I Substitution - Missense Stomach COSM1363349 MBD6 c.2337_2338insG p.A783fs*10 Insertion - Frameshift Large_intestine COSM4138730 NCOA2 c.549G>T p.G183G Substitution - coding silent Kidney COSM681944 RERE c.4239C>T p.P1413P Substitution - coding silent Lung COSM710124 SMARCA4 c.2581G>A p.E861K Substitution - Missense Lung COSM3966624 RAD54L c.1601G>A p.R534H Substitution - Missense Central_nervous_system COSM1617863 BAP1 c.1251-7C>A p.? Unknown Liver COSM4614172 BAHCC1 c.2647delC p.H884fs*90 Deletion - Frameshift Large_intestine COSM1228050 SUV420H2 c.1231C>A p.P411T Substitution - Missense Large_intestine COSM5451588 DIDO1 c.4211G>A p.R1404Q Substitution - Missense Large_intestine COSM5477294 SFMBT2 c.906T>C p.V302V Substitution - coding silent Large_intestine COSM4473510 PHIP c.1855C>T p.P619S Substitution - Missense Skin COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM908684 ZMYM4 c.4147C>A p.L1383I Substitution - Missense Endometrium COSM4457813 SMARCA4 c.1060C>T p.P354S Substitution - Missense Skin COSM6016184 BRD7 c.1047G>A p.T349T Substitution - coding silent Skin COSM316132 TRIM24 c.2560G>C p.V854L Substitution - Missense Lung COSM170529 KDM5D c.3229C>A p.L1077I Substitution - Missense Large_intestine COSM3906835 TAF1L c.4992G>A p.Q1664Q Substitution - coding silent Stomach COSM4590631 GLYR1 c.1377C>G p.H459Q Substitution - Missense Upper_aerodigestive_tract COSM4955869 TAF1L c.694G>A p.A232T Substitution - Missense Liver COSM4742124 ZBTB33 c.1625T>A p.I542N Substitution - Missense Large_intestine COSM4333280 AKAP1 c.371G>T p.R124L Substitution - Missense Biliary_tract COSM5658237 GTF3C1 c.4112T>C p.V1371A Substitution - Missense Soft_tissue COSM3906277 PSIP1 c.659A>G p.K220R Substitution - Missense Stomach COSM2153895 ATF7IP c.1975G>T p.D659Y Substitution - Missense Central_nervous_system COSM4072573 MBD2 c.1024G>A p.A342T Substitution - Missense Stomach COSM5999588 RSF1 c.3481C>T p.R1161C Substitution - Missense Prostate COSM5753287 MUM1 c.990G>A p.P330P Substitution - coding silent Pancreas COSM1060897 PHF15 c.1467C>T p.R489R Substitution - coding silent Endometrium COSM4082475 TRIM28 c.863A>G p.Q288R Substitution - Missense Stomach COSM961491 MGA c.752A>G p.Y251C Substitution - Missense Endometrium COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM30368 KMT2D c.960C>T p.C320C Substitution - coding silent Kidney COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Endometrium COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM53248 TET2 c.3803+2_3803+3insT p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM100065 TET2 c.4663_4664insA p.S1556fs*22 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM88033 KDM6B c.3466C>T p.R1156* Substitution - Nonsense Central_nervous_system COSM88788 EP300 c.187C>T p.Q63* Substitution - Nonsense Skin COSM122662 DNMT3A c.2000A>C p.E667A Substitution - Missense Upper_aerodigestive_tract COSM144171 ARID1A c.4270C>T p.Q1424* Substitution - Nonsense Urinary_tract COSM147496 KMT2D c.3582C>T p.G1194G Substitution - coding silent Stomach COSM181884 RBBP7 c.382C>T p.R128C Substitution - Missense Large_intestine COSM163448 PHF23 c.1156G>T p.E386* Substitution - Nonsense Breast COSM177291 CHD2 c.4319G>A p.R1440Q Substitution - Missense Endometrium COSM206744 ASH1L c.7108C>T p.R2370C Substitution - Missense Skin COSM240688 KMT2D c.5312G>A p.R1771H Substitution - Missense Prostate COSM287292 GLYR1 c.1140_1141insG p.R381fs*15 Insertion - Frameshift Breast COSM299439 PRDM9 c.69+5G>T p.? Unknown Large_intestine COSM309518 BRD4 c.1002C>T p.D334D Substitution - coding silent Lung COSM306061 PHF6 c.821G>A p.R274Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM348718 SMARCC2 c.460G>A p.G154R Substitution - Missense Lung COSM345752 NIPBL c.1585G>T p.G529C Substitution - Missense Lung COSM376270 DOT1L c.2526_2527AG>TT p.G842>? Complex Lung COSM379334 WHSC1 c.3295G>A p.E1099K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM417008 CREBBP c.2659C>T p.Q887* Substitution - Nonsense Urinary_tract COSM468458 KMT2D c.2214G>A p.P738P Substitution - coding silent Kidney COSM987927 ASXL3 c.2322G>A p.Q774Q Substitution - coding silent Endometrium COSM480385 PBRM1 c.1853T>A p.L618H Substitution - Missense Kidney COSM480447 PBRM1 c.528+1G>T p.? Unknown Kidney COSM599068 SND1 c.2155G>T p.A719S Substitution - Missense Central_nervous_system COSM675752 ASH1L c.3800G>T p.R1267M Substitution - Missense Lung COSM1028981 DIDO1 c.3218C>T p.A1073V Substitution - Missense Large_intestine COSM1026877 CHD6 c.2671G>A p.A891T Substitution - Missense Endometrium COSM738278 PRDM9 c.1505A>T p.Q502L Substitution - Missense Lung COSM723974 NCOA6 c.3173G>A p.R1058K Substitution - Missense Lung COSM894486 TTF2 c.782T>C p.L261P Substitution - Missense Endometrium COSM1035223 BRD1 c.2645G>A p.R882Q Substitution - Missense Endometrium COSM969267 GTF3C1 c.1168C>T p.R390* Substitution - Nonsense Endometrium COSM970546 CREBBP c.6310C>T p.R2104C Substitution - Missense Large_intestine COSM1117739 HCFC1 c.2942C>T p.P981L Substitution - Missense Endometrium COSM1131337 SETD5_ENST00000402198 c.598G>A p.E200K Substitution - Missense Prostate COSM1091569 BAZ1B c.1126A>G p.N376D Substitution - Missense Endometrium COSM1263752 RAG2 c.24C>T p.V8V Substitution - coding silent Oesophagus COSM1169597 PBRM1 c.599C>A p.S200* Substitution - Nonsense Kidney COSM1158616 TAF1 c.4665+1G>A p.? Unknown Pancreas COSM1289625 SUV420H1 c.947A>G p.N316S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1334665 ASH1L c.2908delA p.I970fs*9 Deletion - Frameshift Large_intestine COSM1372821 MGA c.3737_3738insA p.E1249fs*25 Insertion - Frameshift Large_intestine COSM1480013 ZBTB4 c.1858G>T p.E620* Substitution - Nonsense Breast COSM1622997 ACTB c.424C>T p.L142L Substitution - coding silent Liver COSM1639813 ARID1A c.2268delC p.Q758fs*75 Deletion - Frameshift Stomach COSM1675286 JMJD1C c.2206A>G p.K736E Substitution - Missense Large_intestine COSM1700609 ATAD2 c.1345C>T p.P449S Substitution - Missense Skin COSM1709079 SRCAP c.6671C>T p.S2224F Substitution - Missense Skin COSM1720665 TDRD1 c.266C>T p.P89L Substitution - Missense Skin COSM1748818 BAZ1A c.3083T>C p.I1028T Substitution - Missense Urinary_tract COSM1753415 BRPF1 c.1789G>C p.D597H Substitution - Missense Urinary_tract COSM2006925 KMT2D c.9661C>T p.R3221C Substitution - Missense Skin COSM2949902 MINA c.511G>A p.A171T Substitution - Missense Stomach COSM2965465 KDM6A c.3710T>A p.I1237N Substitution - Missense Stomach COSM3112993 SRCAP c.6940C>T p.R2314C Substitution - Missense Small_intestine COSM3095571 ZMYM3 c.3712C>T p.R1238W Substitution - Missense Large_intestine COSM3068850 SETD2 c.5634delC p.S1879fs*29 Deletion - Frameshift Large_intestine COSM3160338 PHF3 c.5642C>T p.P1881L Substitution - Missense Upper_aerodigestive_tract COSM3233433 FMR1 c.112C>G p.P38A Substitution - Missense Stomach COSM3357343 EP300 c.4312T>C p.C1438R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3376679 PRDM2 c.2622G>A p.T874T Substitution - coding silent Pancreas COSM3379395 HDAC10 c.1055C>T p.P352L Substitution - Missense Pancreas COSM3398266 TDG c.754T>A p.F252I Substitution - Missense Central_nervous_system COSM3509567 CREBBP c.1201G>T p.G401W Substitution - Missense Skin COSM3631658 MLL5 c.4249C>T p.P1417S Substitution - Missense Skin COSM3637569 STK31 c.3040G>A p.E1014K Substitution - Missense Skin COSM3615204 PRDM9 c.894G>A p.G298G Substitution - coding silent Skin COSM3667498 SMYD3 c.995A>G p.K332R Substitution - Missense Liver COSM3722073 HNF1A c.1251T>A p.G417G Substitution - coding silent Upper_aerodigestive_tract COSM3728112 INOC1 c.97C>T p.H33Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3731965 EYA2 c.805C>T p.R269C Substitution - Missense Stomach COSM3711660 ORC1 c.208G>A p.E70K Substitution - Missense Upper_aerodigestive_tract COSM3758252 MSH6 c.540T>C p.D180D Substitution - coding silent Large_intestine COSM3780553 TAF1 c.4750+1G>A p.? Unknown Pancreas COSM3812091 HDAC7 c.2083C>A p.Q695K Substitution - Missense Breast COSM3795848 AKAP1 c.379G>A p.D127N Substitution - Missense Urinary_tract COSM3858041 NCOA7 c.442A>G p.T148A Substitution - Missense Stomach COSM3937715 AP001011.3_ENST00000320876 c.5011G>A p.E1671K Substitution - Missense Oesophagus COSM3924317 TRRAP c.6594C>T p.L2198L Substitution - coding silent Skin COSM3906180 EHMT1 c.2245G>A p.A749T Substitution - Missense Stomach COSM3980533 MEN1 c.984C>T p.H328H Substitution - coding silent Ovary COSM4041987 ARID2 c.1189C>T p.Q397* Substitution - Nonsense Stomach COSM4042139 HDAC7 c.159G>A p.P53P Substitution - coding silent Stomach COSM4069934 JMJD6 c.690C>T p.D230D Substitution - coding silent Stomach COSM4070287 KDM6B c.3294G>C p.G1098G Substitution - coding silent Stomach COSM4129608 NCOR1 c.571G>A p.E191K Substitution - Missense Upper_aerodigestive_tract COSM4156642 FMR1 c.357A>C p.K119N Substitution - Missense Upper_aerodigestive_tract COSM4161255 TDRD6 c.599T>G p.V200G Substitution - Missense Upper_aerodigestive_tract COSM4170100 TET2 c.5172delT p.T1726fs*19 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM52840 PBRM1 c.4520T>A p.I1507N Substitution - Missense Kidney COSM4391214 INOC1 c.1455C>T p.N485N Substitution - coding silent Breast COSM4508137 MYST1 c.766C>T p.H256Y Substitution - Missense Skin COSM4477232 HCFC2 c.2136C>T p.A712A Substitution - coding silent Skin COSM4423264 BAG6 c.1415C>A p.P472H Substitution - Missense Central_nervous_system COSM4695027 KDM5C c.634C>T p.R212W Substitution - Missense Large_intestine COSM4766123 TET2 c.2475_2475delA p.S826fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4766162 TET2 c.3074_3074delT p.I1025fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4663271 ARID2 c.3453G>A p.L1151L Substitution - coding silent Large_intestine COSM4733312 TFPT c.167G>A p.G56E Substitution - Missense Large_intestine COSM4677507 DIDO1 c.3797delC p.P1266fs*8 Deletion - Frameshift Large_intestine COSM4606594 CHD6 c.6385G>A p.V2129I Substitution - Missense Adrenal_gland COSM4625308 GABRG1 c.500T>A p.L167Q Substitution - Missense Large_intestine COSM4625972 KMT2C c.5116A>G p.I1706V Substitution - Missense Large_intestine COSM4774416 PRDM13 c.1326C>T p.G442G Substitution - coding silent Stomach COSM4772789 PRDM2 c.3763A>G p.T1255A Substitution - Missense Stomach COSM4795709 EP400 c.5219C>T p.A1740V Substitution - Missense Liver COSM4902234 MECOM c.2488G>A p.E830K Substitution - Missense Skin COSM4925547 SMNDC1 c.54A>G p.Q18Q Substitution - coding silent Liver COSM4934025 RTF1 c.704A>G p.N235S Substitution - Missense Liver COSM4844718 SP100 c.517G>C p.E173Q Substitution - Missense Cervix COSM4949437 SETD6 c.1334T>G p.L445W Substitution - Missense Liver COSM4957603 PRDM16 c.3572C>T p.T1191I Substitution - Missense Liver COSM4950502 SUZ12 c.1148A>G p.E383G Substitution - Missense Liver COSM4963830 SETD2 c.5476C>T p.Q1826* Substitution - Nonsense Central_nervous_system COSM5011485 PHF15 c.1009T>C p.C337R Substitution - Missense Kidney COSM5019408 DNMT1 c.1584C>A p.I528I Substitution - coding silent Soft_tissue COSM5019942 SETBP1 c.4000+10T>A p.? Unknown Soft_tissue COSM5020404 KMT2A c.7245C>T p.N2415N Substitution - coding silent Soft_tissue COSM5020167 KMT2A c.3291A>G p.P1097P Substitution - coding silent Soft_tissue COSM5175788 MINA c.306C>T p.V102V Substitution - coding silent Large_intestine COSM5404520 SHPRH c.4460C>T p.S1487F Substitution - Missense Skin COSM5380655 HDAC1 c.1218G>A p.S406S Substitution - coding silent Skin COSM5356703 PRDM9 c.1644G>A p.G548G Substitution - coding silent Large_intestine COSM5491607 HDAC4 c.1167C>T p.P389P Substitution - coding silent Biliary_tract COSM5456150 PHRF1 c.4679T>C p.M1560T Substitution - Missense Large_intestine COSM5434338 KMT2C c.12565G>A p.E4189K Substitution - Missense Oesophagus COSM5647278 BAZ1A c.372C>T p.V124V Substitution - coding silent Oesophagus COSM5733077 DHX30 c.1118C>A p.A373D Substitution - Missense Pancreas COSM5718116 EYA2 c.491C>T p.P164L Substitution - Missense Skin COSM5605179 TIF1 c.2469G>A p.L823L Substitution - coding silent Skin COSM5583100 ZBTB4 c.1437C>T p.P479P Substitution - coding silent Skin COSM5606356 BRD3 c.220C>T p.H74Y Substitution - Missense Skin COSM5775314 HDAC5 c.3013G>C p.G1005R Substitution - Missense Breast COSM5903127 BAHCC1 c.1547C>T p.A516V Substitution - Missense Skin COSM5986098 HAT1 c.434C>T p.T145I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5970779 BAZ2A_ENST00000379441 c.1610G>T p.G537V Substitution - Missense Upper_aerodigestive_tract COSM5997543 KMT2C c.1146T>C p.G382G Substitution - coding silent Prostate COSM6002687 RAI1 c.1782T>C p.C594C Substitution - coding silent Prostate COSM5991765 SETD7 c.363_366delATAT p.Y122fs*8 Deletion - Frameshift Prostate COSM5983722 BAZ2A c.2023G>A p.E675K Substitution - Missense Upper_aerodigestive_tract COSM5995589 PHF17 c.2374A>G p.S792G Substitution - Missense Prostate COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM23005 MEN1 c.? p.Q584* Substitution - Nonsense Parathyroid COSM51384 IDH1 c.? p.R132L Substitution - Missense Central_nervous_system COSM3734740 ARID1A c.? p.Q1473* Substitution - Nonsense Urinary_tract COSM1716574 BAP1 c.376-?_580+?del p.? Unknown Pleura COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM330641 EZH2 c.? p.F670C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96440 EP300 c.256C>T p.R86* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5933006 CHD4 c.4236+6T>A p.? Unknown Skin COSM1441790 JARID2 c.1188G>A p.A396A Substitution - coding silent Large_intestine COSM5802028 CHD4 c.4353_4370del18 p.S1452_K1457delSEKEFK Deletion - In frame Breast COSM133004 ARID1A c.5548_5549insG p.D1850fs*4 Insertion - Frameshift Stomach COSM133572 ASXL1 c.1903G>T p.E635* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM21481 HNF1A c.872_873insC p.G292fs*25 Insertion - Frameshift Liver COSM1462008 TAF1L c.2380G>A p.E794K Substitution - Missense Skin COSM390429 JMJD1C c.3801G>T p.K1267N Substitution - Missense Lung COSM1678195 SMEK1 c.718C>G p.L240V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5985385 SETD1A c.727T>C p.C243R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4665030 BAG6 c.1398G>A p.P466P Substitution - coding silent Large_intestine COSM2206313 PRMT8 c.97delC p.Q35fs*31 Deletion - Frameshift Biliary_tract COSM1162119 MGA c.8799G>A p.L2933L Substitution - coding silent Kidney COSM5502467 MSH6 c.2765G>T p.R922L Substitution - Missense Biliary_tract COSM1253000 GABRG1 c.236T>G p.L79R Substitution - Missense Large_intestine COSM3097870 BRWD3 c.748T>C p.C250R Substitution - Missense Large_intestine COSM4747249 PBRM1 c.3149delA p.N1050fs*109 Deletion - Frameshift Stomach COSM1012892 ASXL1 c.2101_2107delCCTCTAA p.P701fs*22 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4916887 SMCHD1 c.1441A>T p.S481C Substitution - Missense Liver COSM25284 SMARCC1 c.1928A>T p.N643I Substitution - Missense Lung COSM1262042 PHF19 c.759C>A p.I253I Substitution - coding silent Oesophagus COSM5574201 KMT2D c.1871C>G p.S624* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM202338 ZBTB33 c.1048G>A p.V350I Substitution - Missense Central_nervous_system COSM249560 KMT2C c.5053G>T p.A1685S Substitution - Missense Thyroid COSM1220343 PHF14 c.1937A>C p.K646T Substitution - Missense Large_intestine COSM3909971 HDAC4 c.2825C>T p.P942L Substitution - Missense Skin COSM3992222 PHF21B c.284C>A p.P95H Substitution - Missense Kidney COSM1161390 ADNP c.1663C>T p.Q555* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM265253 ARID2 c.854G>A p.R285Q Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3943940 SETD3 c.390T>G p.T130T Substitution - coding silent Ovary COSM249685 NCOR1 c.448G>A p.G150R Substitution - Missense Central_nervous_system COSM2178827 TTF2 c.2110C>T p.P704S Substitution - Missense Skin COSM1233466 ZGPAT c.1375C>A p.L459I Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5879039 TET2 c.4834_4835delTC p.S1612fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3547371 NCOA3 c.638C>T p.A213V Substitution - Missense Skin COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Soft_tissue COSM4956768 TET2 c.749A>G p.N250S Substitution - Missense Liver COSM3473725 TDRKH c.113G>A p.R38K Substitution - Missense Skin COSM1381233 RAI1 c.1975delC p.R660fs*159 Deletion - Frameshift Large_intestine COSM1703069 TDRD1 c.1739G>A p.G580E Substitution - Missense Skin COSM3555662 HDAC10 c.1993C>T p.P665S Substitution - Missense Skin COSM3554448 CBX6 c.739C>T p.P247S Substitution - Missense Skin COSM3625667 RING1 c.193C>T p.L65F Substitution - Missense Skin COSM431524 BAZ2A_ENST00000379441 c.5479G>T p.V1827L Substitution - Missense Breast COSM2848366 GABRG1 c.1292G>A p.R431K Substitution - Missense Bone COSM1125446 ATRX c.4278A>G p.R1426R Substitution - coding silent Endometrium COSM125335 PHF16 c.2021C>G p.S674C Substitution - Missense Upper_aerodigestive_tract COSM3435848 PWWP2B c.1625C>T p.S542L Substitution - Missense Skin COSM1465521 SMARCA1 c.169_171delAAG p.K57delK Deletion - In frame Large_intestine COSM1318617 TET2 c.4060_4061delAG p.R1354fs*46 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4060691 CREBBP c.6661A>G p.M2221V Substitution - Missense Stomach COSM3589852 MECOM c.2186G>A p.G729E Substitution - Missense Skin COSM4654117 CDYL c.1588A>G p.T530A Substitution - Missense Large_intestine COSM4590719 KAT2A c.1583C>T p.S528F Substitution - Missense Upper_aerodigestive_tract COSM3463528 BAZ2A_ENST00000379441 c.3111C>T p.C1037C Substitution - coding silent Skin COSM4064144 NCOR1 c.6945A>G p.S2315S Substitution - coding silent Stomach COSM218912 KMT2C c.11056A>C p.N3686H Substitution - Missense Pancreas COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1630066 NCOR1 c.515C>T p.S172L Substitution - Missense Kidney COSM3748700 TRIM28 c.1397C>G p.S466* Substitution - Nonsense Stomach COSM4985890 PHF3 c.3421G>C p.V1141L Substitution - Missense Soft_tissue COSM4960835 TAF1L c.3182G>A p.G1061E Substitution - Missense Liver COSM264781 ZCWPW2 c.12A>C p.E4D Substitution - Missense Large_intestine COSM2856240 KDM1B c.222_223insA p.N76fs*18 Insertion - Frameshift Large_intestine COSM1564237 TFPT c.53delT p.F18fs*60 Deletion - Frameshift Large_intestine COSM4232590 LBR c.902C>T p.A301V Substitution - Missense Upper_aerodigestive_tract COSM4509001 SMYD3 c.616C>T p.R206C Substitution - Missense Skin COSM1209174 GTF3C1 c.5765C>T p.A1922V Substitution - Missense Large_intestine COSM972490 CTCF c.1342C>T p.R448* Substitution - Nonsense Endometrium COSM5002212 RAI1 c.4081C>A p.L1361I Substitution - Missense Pancreas COSM3978814 TAF3 c.2147A>C p.K716T Substitution - Missense Lung COSM5712779 NCOR1 c.98G>A p.R33H Substitution - Missense Central_nervous_system COSM5477332 BTAF1 c.1747A>G p.I583V Substitution - Missense Large_intestine COSM5959253 CHD4 c.1276G>A p.D426N Substitution - Missense Thyroid COSM3550997 PRDM15 c.1328C>T p.P443L Substitution - Missense Skin COSM970127 MYST1 c.507G>T p.E169D Substitution - Missense Endometrium COSM3555051 TCF20 c.4083C>T p.S1361S Substitution - coding silent Skin COSM1045672 SMARCC1 c.1197T>C p.P399P Substitution - coding silent Endometrium COSM4021559 PRDM2 c.4108C>G p.P1370A Substitution - Missense Stomach COSM1283675 BPTF c.7568G>A p.R2523H Substitution - Missense Autonomic_ganglia COSM4885607 SUZ12 c.1156C>A p.H386N Substitution - Missense Upper_aerodigestive_tract COSM720749 DNMT3A c.144G>T p.V48V Substitution - coding silent Lung COSM5635674 JARID2 c.1292T>G p.L431R Substitution - Missense Oesophagus COSM1457736 CHD7 c.6352A>G p.N2118D Substitution - Missense Large_intestine COSM1936460 BAZ2A_ENST00000379441 c.4830T>C p.H1610H Substitution - coding silent Large_intestine COSM921442 BTAF1 c.4767A>G p.Q1589Q Substitution - coding silent Endometrium COSM920701 TAF3 c.1222G>A p.E408K Substitution - Missense Endometrium COSM3890662 BAHCC1 c.3248C>T p.P1083L Substitution - Missense Skin COSM5125582 MPHOSPH8 c.1791+966_1932+31del1615 p.? Unknown Large_intestine COSM1469490 ATRX c.890_892delAGA p.K297delK Deletion - In frame Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2042539 SUV420H1 c.1506C>T p.A502A Substitution - coding silent Bone COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4311302 HDAC4 c.2314C>T p.R772C Substitution - Missense Skin COSM5499530 SMCHD1 c.2625+7C>T p.? Unknown Biliary_tract COSM2874629 NCOA2 c.1881C>T p.D627D Substitution - coding silent Oesophagus COSM5707670 EP300 c.968delT p.M323fs*39 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM21479 HNF1A c.18_36>T p.Q7_L12delQLQTEL Deletion - In frame Liver COSM2263325 ING1 c.469G>A p.E157K Substitution - Missense Large_intestine COSM194440 CTCF c.1807C>T p.R603C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4609661 MEN1 c.1795_1796delAC p.T599fs*>12 Deletion - Frameshift Adrenal_gland COSM5986596 SETD2 c.1392_1393insAAGC p.S465fs*6 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4496212 NIPBL c.4704C>T p.D1568D Substitution - coding silent Skin COSM3848243 SMARCA2 c.2853G>C p.K951N Substitution - Missense Breast COSM4891249 KMT2D c.674A>G p.E225G Substitution - Missense Upper_aerodigestive_tract COSM3599586 PRDM5 c.1380G>A p.K460K Substitution - coding silent Skin COSM4912787 HDAC4 c.1153C>T p.L385F Substitution - Missense Liver COSM384781 INO80B c.92A>T p.K31M Substitution - Missense Lung COSM207998 MECOM c.1839delA p.G614fs*30 Deletion - Frameshift Large_intestine COSM4426334 PHIP c.5362A>G p.R1788G Substitution - Missense Oesophagus COSM211589 KDM6B c.4432T>G p.C1478G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM254547 ARID1A c.4750C>T p.Q1584* Substitution - Nonsense Pancreas COSM907753 ARID1A c.6403A>G p.I2135V Substitution - Missense Endometrium COSM1615600 CHD6 c.1962T>G p.A654A Substitution - coding silent Liver COSM1113682 MSL3 c.103-1G>C p.? Unknown Endometrium COSM384304 SRCAP c.5725G>A p.E1909K Substitution - Missense Lung COSM4678903 DNMT3A c.840C>T p.D280D Substitution - coding silent Large_intestine COSM21478 HNF1A c.618G>T p.W206C Substitution - Missense Liver COSM3450132 GLYATL1 c.319C>T p.R107C Substitution - Missense Skin COSM393089 AICDA c.511C>T p.R171C Substitution - Missense Lung COSM427630 ERCC6 c.4238A>G p.Q1413R Substitution - Missense Soft_tissue COSM416889 PYGO1 c.366C>A p.Y122* Substitution - Nonsense Urinary_tract COSM1618223 TET2 c.1241A>T p.Q414L Substitution - Missense Liver COSM5687971 GABRG1 c.527T>G p.V176G Substitution - Missense Soft_tissue COSM3736847 BRD8 c.673G>T p.G225C Substitution - Missense Skin COSM4564670 HDAC7 c.1224_1225CC>TT p.(=) Unknown Skin COSM3899931 ASH2L c.322C>T p.R108* Substitution - Nonsense Stomach COSM206736 ASH1L c.8683delA p.T2895fs*44 Deletion - Frameshift Large_intestine COSM4983194 KMT2C c.12415C>T p.R4139* Substitution - Nonsense Breast COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4146002 MTA2 c.1965A>C p.S655S Substitution - coding silent Thyroid COSM1634273 C5orf35 c.426A>G p.K142K Substitution - coding silent Liver COSM4583358 HDAC4 c.2990T>C p.L997P Substitution - Missense Bone COSM271310 IDH2 c.140C>T p.A47V Substitution - Missense Large_intestine COSM465903 SFMBT2 c.1941A>T p.E647D Substitution - Missense Kidney COSM53054 TET2 c.? p.L862fs*8 Frameshift Haematopoietic_and_lymphoid_tissue COSM5506096 BAP1 c.233delA p.N78fs*9 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3719083 ASXL1 c.1438G>T p.E480* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5432597 BPTF c.2689G>A p.G897S Substitution - Missense Oesophagus COSM477462 MSH6 c.1267C>A p.L423I Substitution - Missense Kidney COSM1685380 TET2 c.5897G>A p.R1966H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3673980 SETD2 c.2711G>T p.R904M Substitution - Missense Prostate COSM97037 ASXL1 c.2464_2465insA p.T822fs*11 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5405114 BRPF3 c.1737G>A p.Q579Q Substitution - coding silent Skin COSM913242 BRDT c.1774G>T p.E592* Substitution - Nonsense Endometrium COSM254551 ARID1A c.1897C>T p.Q633* Substitution - Nonsense Urinary_tract COSM3724500 SMARCA4 c.2859+1G>A p.? Unknown Ovary COSM3554896 L3MBTL2 c.298G>A p.E100K Substitution - Missense Skin COSM3950767 BAZ1B c.3347A>T p.K1116M Substitution - Missense Lung COSM3362716 BRD4 c.2149T>C p.S717P Substitution - Missense Kidney COSM4054504 RTF1 c.1715C>T p.S572F Substitution - Missense Stomach COSM5826522 PHF2 c.2955_2956ins15 p.T996_S997insTPAST Insertion - In frame Large_intestine COSM97896 SETBP1 c.1658A>T p.K553I Substitution - Missense Upper_aerodigestive_tract COSM1312893 KMT2C c.1450C>A p.H484N Substitution - Missense Urinary_tract COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM221041 ZMYND8 c.1687G>C p.V563L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5724226 CREBBP c.2867C>T p.P956L Substitution - Missense Skin COSM3296142 MBD5 c.1599A>C p.L533L Substitution - coding silent Upper_aerodigestive_tract COSM4591901 NCOR1 c.618+6T>A p.? Unknown Upper_aerodigestive_tract COSM5434868 KMT2D c.6331C>A p.P2111T Substitution - Missense Oesophagus COSM1373628 PYGO1 c.44C>T p.S15L Substitution - Missense Large_intestine COSM472489 PHF12 c.460G>A p.A154T Substitution - Missense Kidney COSM4989872 SETD2 c.? p.N754Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4882248 DHX30 c.3315G>T p.G1105G Substitution - coding silent Upper_aerodigestive_tract COSM254630 CREBBP c.3323C>A p.S1108* Substitution - Nonsense Urinary_tract COSM133126 DNMT3A c.2204A>G p.Y735C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144549 DNMT3A c.? p.P799R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2758214 NCOA6 c.1422G>A p.P474P Substitution - coding silent Upper_aerodigestive_tract COSM2812074 SETBP1 c.2083delC p.P696fs*88 Deletion - Frameshift Upper_aerodigestive_tract COSM87087 TET2 c.1747G>T p.E583* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5515256 CHD7 c.1959G>A p.P653P Substitution - coding silent Biliary_tract COSM3579808 HDAC4 c.1271C>T p.P424L Substitution - Missense Large_intestine COSM1093621 TRRAP c.4651A>G p.T1551A Substitution - Missense Endometrium COSM4002747 PBRM1 c.3597A>T p.P1199P Substitution - coding silent Soft_tissue COSM2866625 TRRAP c.4870G>T p.A1624S Substitution - Missense Upper_aerodigestive_tract COSM3748985 TAF1L c.1195A>G p.R399G Substitution - Missense Stomach COSM4054366 BAHD1 c.1069A>C p.M357L Substitution - Missense Stomach COSM4747142 ARID2 c.527_546del20 p.N178fs*2 Deletion - Frameshift Stomach COSM3555664 HDAC10 c.1360G>A p.E454K Substitution - Missense Skin COSM1018655 ATAD2B_ENST00000238789 c.2341T>C p.S781P Substitution - Missense Endometrium COSM894188 TRIM33 c.984G>A p.A328A Substitution - coding silent Endometrium COSM185068 SRCAP c.4981C>G p.Q1661E Substitution - Missense Breast COSM4966818 SETD1B c.1845C>T p.T615T Substitution - coding silent Prostate COSM5786288 PHF21A c.707G>T p.R236L Substitution - Missense Breast COSM5062324 KMT2C c.487T>C p.W163R Substitution - Missense Stomach COSM4876558 MYST3 c.1013C>T p.P338L Substitution - Missense Prostate COSM329123 AIRE c.1578T>C p.D526D Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1611510 CARM1 c.305T>C p.L102P Substitution - Missense Liver COSM5427586 SETD2 c.4492A>T p.K1498* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM217231 SMARCB1 c.602G>T p.R201L Substitution - Missense Liver COSM3642824 TRRAP c.8499C>T p.L2833L Substitution - coding silent Skin COSM445073 TCF20 c.431C>G p.S144C Substitution - Missense Breast COSM5878980 TET2 c.2525C>G p.S842* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1642601 BRD8 c.533_534insC p.R179fs*19 Insertion - Frameshift Stomach COSM5988170 KDM6B c.4181A>G p.N1394S Substitution - Missense Salivary_gland COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4144073 ORC1 c.2405A>C p.H802P Substitution - Missense Thyroid COSM1419211 HDAC11 c.560G>T p.G187V Substitution - Missense Large_intestine COSM925901 PRMT3 c.833C>T p.A278V Substitution - Missense Endometrium COSM1316596 SETD1A c.2936A>G p.E979G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4617821 KDM6B c.486C>T p.S162S Substitution - coding silent Large_intestine COSM462939 POGZ c.1057G>A p.G353R Substitution - Missense Kidney COSM173384 ADNP c.2990C>A p.S997Y Substitution - Missense Skin COSM318945 BRDT c.1036A>T p.M346L Substitution - Missense Lung COSM41877 IDH2 c.418C>T p.R140W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4826359 MUM1 c.308C>T p.S103L Substitution - Missense Cervix COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Upper_aerodigestive_tract COSM5361561 KMT2D c.7029G>A p.P2343P Substitution - coding silent Large_intestine COSM452728 KMT2C c.2379G>A p.S793S Substitution - coding silent Upper_aerodigestive_tract COSM4166113 ATF7IP c.2745A>C p.A915A Substitution - coding silent Kidney COSM1622166 MLL5 c.3336T>G p.T1112T Substitution - coding silent Liver COSM1618332 PRDM5 c.1554A>G p.Q518Q Substitution - coding silent Liver COSM3809247 PRDM11 c.1272C>T p.A424A Substitution - coding silent Breast COSM3372158 HCFC1 c.246C>T p.G82G Substitution - coding silent Thyroid COSM5705854 BAHD1 c.287T>G p.L96R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM167320 ADNP c.1395C>T p.F465F Substitution - coding silent Skin COSM166345 DNMT3A c.? p.? Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM37029 EZH2 c.1937A>C p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM419075 SMYD1 c.341T>G p.V114G Substitution - Missense Upper_aerodigestive_tract COSM5937854 CHD6 c.1681-1G>A p.? Unknown Skin COSM4591023 KMT2C c.871C>T p.L291F Substitution - Missense Upper_aerodigestive_tract COSM224313 ARID1B c.5988G>A p.W1996* Substitution - Nonsense Skin COSM4468597 ACTR5 c.1551C>T p.F517F Substitution - coding silent Skin COSM4671295 CDYL2 c.1520G>T p.*507L Nonstop extension Large_intestine COSM3731914 MTA1 c.1344+5delG p.? Unknown Large_intestine COSM936442 SETD8 c.981G>A p.A327A Substitution - coding silent Endometrium COSM4970814 TP53BP1 c.4667-28_4667-7del22 p.? Unknown Central_nervous_system COSM191438 KDM5C c.2041C>T p.R681* Substitution - Nonsense Kidney COSM4587296 HDAC9 c.233A>G p.Q78R Substitution - Missense Bone COSM1689317 TDRD5 c.2410G>A p.G804R Substitution - Missense Skin COSM1361281 PRMT8 c.667G>A p.V223M Substitution - Missense Large_intestine COSM5997509 TRRAP c.9353A>G p.Q3118R Substitution - Missense Prostate COSM1602331 MEAF6 c.224A>G p.N75S Substitution - Missense Liver COSM170579 ARID1A c.2167C>T p.Q723* Substitution - Nonsense Skin COSM5599468 EP400 c.5622G>A p.L1874L Substitution - coding silent Skin COSM173599 MYST3 c.4222G>A p.E1408K Substitution - Missense Endometrium COSM5786220 INO80B c.996G>T p.G332G Substitution - coding silent Breast COSM1450072 STK31 c.118C>G p.H40D Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4878978 ARID1A c.4652G>A p.R1551H Substitution - Missense Prostate COSM5043992 ZMYM3 c.3111+1G>C p.? Unknown Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3383085 BTAF1 c.1725C>T p.S575S Substitution - coding silent Pancreas COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM455833 TAF1L c.742G>A p.E248K Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3620516 L3MBTL3 c.804G>A p.M268I Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1043292 KAT2B c.1469G>A p.R490H Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4767513 ATRX c.5957-6A>T p.? Unknown Biliary_tract COSM1401403 ATF2 c.935C>T p.P312L Substitution - Missense Large_intestine COSM3909078 PHF2 c.2017G>A p.V673M Substitution - Missense Stomach COSM3862674 POGZ c.872C>T p.P291L Substitution - Missense Skin COSM5017123 SUV39H1 c.733C>A p.L245I Substitution - Missense Kidney COSM33732 IDH2 c.515G>T p.R172M Substitution - Missense Central_nervous_system COSM4856659 JMJD6 c.665G>A p.R222Q Substitution - Missense Cervix COSM1242892 STK31 c.668delA p.K225fs*35 Deletion - Frameshift Large_intestine COSM302137 EP400 c.8181A>G p.Q2727Q Substitution - coding silent Skin COSM1099939 MYST3 c.2770G>A p.E924K Substitution - Missense Endometrium COSM4060272 SETD1A c.1079G>A p.R360H Substitution - Missense Stomach COSM132968 ASXL1 c.? p.E635fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM1316117 KMT2D c.4558T>C p.F1520L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4590631 GLYR1 c.1377C>G p.H459Q Substitution - Missense Upper_aerodigestive_tract COSM1716588 BAP1 c.1891-?_2056+?del p.? Unknown Pleura COSM5415141 TTF2 c.3401A>G p.K1134R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3740649 SETDB1 c.3865C>T p.R1289C Substitution - Missense Liver COSM5748877 BAZ2B c.1291C>T p.R431W Substitution - Missense Pancreas COSM4982950 SMARCC2 c.2257G>C p.E753Q Substitution - Missense Oesophagus COSM1378355 FTO c.964C>T p.R322* Substitution - Nonsense Pancreas COSM188274 MYST3 c.4427C>T p.A1476V Substitution - Missense Pancreas COSM3668118 AP001011.3_ENST00000320876 c.3733A>G p.I1245V Substitution - Missense Liver COSM5967527 MSH6 c.? p.E708* Substitution - Nonsense Endometrium COSM4974228 TAF3 c.2019G>A p.R673R Substitution - coding silent Oesophagus COSM3492895 RERE c.4238C>T p.P1413L Substitution - Missense Skin COSM4590631 GLYR1 c.1377C>G p.H459Q Substitution - Missense Upper_aerodigestive_tract COSM1388367 SMCHD1 c.2237T>C p.V746A Substitution - Missense Large_intestine COSM723129 ASXL1 c.858C>T p.F286F Substitution - coding silent Lung COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24900 HNF1A c.632A>C p.Q211P Substitution - Missense Liver COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM51415 ARID1A c.404_404delC p.P135fs*97 Deletion - Frameshift Ovary COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM53097 DNMT3A c.1936+2T>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM74136 CHD8 c.3844C>G p.L1282V Substitution - Missense Ovary COSM71028 HDAC1 c.74G>C p.G25A Substitution - Missense Ovary COSM88753 CREBBP c.4506G>T p.W1502C Substitution - Missense Urinary_tract COSM110708 ASXL1 c.1782C>A p.C594* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM149915 BRD8 c.3684G>A p.V1228V Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM165657 ZBTB38 c.2422A>G p.I808V Substitution - Missense Breast COSM211612 TET2 c.2171_2172delAT p.H724fs*29 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM215433 SFMBT2 c.2071C>T p.R691W Substitution - Missense Endometrium COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Large_intestine COSM259302 ACTR8 c.1138C>T p.R380* Substitution - Nonsense Large_intestine COSM303247 SMARCA4 c.3574C>T p.R1192C Substitution - Missense Central_nervous_system COSM317495 KAT2B c.1623-2A>G p.? Unknown Lung COSM346871 PHF14 c.841G>A p.A281T Substitution - Missense Lung COSM364822 UHRF2 c.1767+1G>T p.? Unknown Lung COSM386924 SMARCA4 c.3056C>T p.T1019I Substitution - Missense Lung COSM400665 L3MBTL3 c.1637C>T p.P546L Substitution - Missense Lung COSM445920 MECOM c.2289C>T p.C763C Substitution - coding silent Breast COSM457981 ZMYM3 c.275C>T p.P92L Substitution - Missense Breast COSM452692 KMT2C c.11205delA p.K3735fs*10 Deletion - Frameshift Breast COSM485788 TRRAP c.4894G>T p.V1632L Substitution - Missense Kidney COSM692219 EP400 c.8607A>C p.A2869A Substitution - coding silent Lung COSM675860 TDRD10 c.378G>T p.E126D Substitution - Missense Lung COSM679183 ACTA1 c.69C>T p.F23F Substitution - coding silent Lung COSM1015583 IDH1 c.21C>T p.G7G Substitution - coding silent Endometrium COSM936101 SETD1B c.2005C>T p.R669W Substitution - Missense Upper_aerodigestive_tract COSM745593 HDAC9 c.2469T>G p.D823E Substitution - Missense Lung COSM738280 PRDM9 c.1326A>T p.P442P Substitution - coding silent Lung COSM930214 MEN1 c.1820G>A p.R607H Substitution - Missense Endometrium COSM913363 MTF2 c.58C>T p.R20* Substitution - Nonsense Large_intestine COSM896904 ASH1L c.8163C>T p.H2721H Substitution - coding silent Large_intestine COSM990460 DNMT1 c.897C>T p.P299P Substitution - coding silent Endometrium COSM1045670 SMARCC1 c.1371G>T p.W457C Substitution - Missense Endometrium COSM1114024 ZBTB33 c.832C>A p.P278T Substitution - Missense Endometrium COSM1087041 EZH2 c.2004C>T p.C668C Substitution - coding silent Endometrium COSM1084051 PHF14 c.1523G>T p.R508I Substitution - Missense Endometrium COSM1259599 NSD1 c.255G>A p.E85E Substitution - coding silent Oesophagus COSM1169516 KDM5C c.464C>T p.S155F Substitution - Missense Kidney COSM1178772 KMT2A c.10224A>G p.Q3408Q Substitution - coding silent Prostate COSM1226791 SMARCD1 c.537T>G p.D179E Substitution - Missense Large_intestine COSM1603245 SUV39H2 c.231G>A p.L77L Substitution - coding silent Liver COSM1312084 PHF1 c.327G>A p.K109K Substitution - coding silent Urinary_tract COSM1312025 EHMT2 c.1687C>G p.P563A Substitution - Missense Urinary_tract COSM1299440 KMT2D c.5925C>G p.L1975L Substitution - coding silent Urinary_tract COSM1320237 ARID1A c.5296G>T p.E1766* Substitution - Nonsense Ovary COSM1372747 INOC1 c.458G>T p.S153I Substitution - Missense Large_intestine COSM1443800 PHF1 c.10delC p.R6fs*2 Deletion - Frameshift Large_intestine COSM1506451 BTAF1 c.5041A>G p.I1681V Substitution - Missense Liver COSM1676322 RSF1 c.2584A>T p.S862C Substitution - Missense Large_intestine COSM1644034 KDM6A c.3737-6_3737-5delTC p.? Unknown Stomach COSM1662276 ING3 c.337G>T p.A113S Substitution - Missense Kidney COSM1663064 NIPBL c.50C>A p.A17D Substitution - Missense Kidney COSM1666113 ARID2 c.5237G>A p.R1746K Substitution - Missense Eye COSM1737412 SETD2 c.625A>T p.K209* Substitution - Nonsense Central_nervous_system COSM1727866 ARID1B c.6097G>T p.G2033C Substitution - Missense Liver COSM1737883 TET2 c.3635_3635delT p.L1212fs*14 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2078766 PHC2 c.522G>A p.T174T Substitution - coding silent Oesophagus COSM2098524 CHD4 c.2691G>A p.K897K Substitution - coding silent Large_intestine COSM2866512 TRRAP c.1972A>C p.M658L Substitution - Missense Bone COSM2965411 KDM6A c.2574G>A p.G858G Substitution - coding silent Upper_aerodigestive_tract COSM2967957 KDM5C c.1988C>T p.A663V Substitution - Missense Breast COSM3087124 BAZ1B c.4075C>T p.R1359C Substitution - Missense Large_intestine COSM3304240 KMT2C c.4247C>T p.S1416L Substitution - Missense Large_intestine COSM3304314 KMT2C c.2956C>G p.P986A Substitution - Missense Urinary_tract COSM3296137 MBD5 c.1536C>T p.S512S Substitution - coding silent Upper_aerodigestive_tract COSM3296208 MBD5 c.3373G>A p.A1125T Substitution - Missense Large_intestine COSM3408858 ATXN7 c.198C>T p.G66G Substitution - coding silent Central_nervous_system COSM3401061 RERE c.386A>C p.D129A Substitution - Missense Central_nervous_system COSM3508213 GTF3C1 c.4621C>T p.R1541C Substitution - Missense Skin COSM3436130 SUV39H2 c.358G>A p.G120R Substitution - Missense Skin COSM3423985 DNMT3L c.715G>A p.D239N Substitution - Missense Skin COSM3618463 BRD9 c.1341C>T p.G447G Substitution - coding silent Skin COSM3630739 ZCWPW1 c.117G>A p.E39E Substitution - coding silent Skin COSM3580225 NCOA1 c.2245C>T p.L749L Substitution - coding silent Skin COSM3562274 KDM5C c.4610C>T p.S1537L Substitution - Missense Skin COSM3550991 PRDM15 c.3144C>G p.D1048E Substitution - Missense Skin COSM3519925 AKAP1 c.68G>A p.W23* Substitution - Nonsense Skin COSM3663071 HDAC9 c.2701G>A p.V901M Substitution - Missense Liver COSM3660363 FXR1 c.1191C>T p.S397S Substitution - coding silent Liver COSM3711408 MEAF6 c.156G>C p.Q52H Substitution - Missense Upper_aerodigestive_tract COSM3713462 MBD5 c.2884C>T p.Q962* Substitution - Nonsense Upper_aerodigestive_tract COSM3736917 NIPBL c.2021A>G p.N674S Substitution - Missense Large_intestine COSM3736402 SIRT5 c.914A>G p.E305G Substitution - Missense Skin COSM3750412 LMNA c.1698C>T p.H566H Substitution - coding silent Large_intestine COSM3783752 ATXN7 c.2157C>T p.S719S Substitution - coding silent Prostate COSM3795951 SMARCD2 c.1146C>T p.V382V Substitution - coding silent Urinary_tract COSM3879126 EZH2 c.128G>T p.S43I Substitution - Missense Stomach COSM3988435 SETD1A c.1223C>A p.S408Y Substitution - Missense Kidney COSM4129609 NCOR1 c.568C>T p.R190* Substitution - Nonsense Upper_aerodigestive_tract COSM4387473 EP300 c.4505C>T p.P1502L Substitution - Missense Skin COSM4389817 SP140_ENST00000392045 c.67G>A p.A23T Substitution - Missense Pancreas COSM4602848 BPTF c.8028_8029insCCTCCAGCC p.P2684_P2685insAPP Insertion - In frame Haematopoietic_and_lymphoid_tissue COSM4494346 CHD3 c.253C>T p.R85W Substitution - Missense Skin COSM4432239 EYA4 c.1021G>T p.E341* Substitution - Nonsense Oesophagus COSM4571202 RAI1 c.4036T>A p.C1346S Substitution - Missense Skin COSM4477999 NCOA6 c.2201C>T p.S734F Substitution - Missense Skin COSM4473813 SFMBT2 c.1875C>T p.F625F Substitution - coding silent Skin COSM4663214 ARID1A c.46_48delCCG p.P21delP Deletion - In frame Large_intestine COSM4677507 DIDO1 c.3797delC p.P1266fs*8 Deletion - Frameshift Large_intestine COSM4651826 TAF3 c.1499C>A p.P500H Substitution - Missense Large_intestine COSM4750479 TRDMT1 c.823C>T p.R275* Substitution - Nonsense Stomach COSM4805973 BRWD1 c.2636C>T p.P879L Substitution - Missense Liver COSM4793720 TAF1L c.5209C>T p.P1737S Substitution - Missense Liver COSM4891152 NCOA2 c.3747G>C p.Q1249H Substitution - Missense Upper_aerodigestive_tract COSM4893215 ACTA1 c.289C>T p.R97C Substitution - Missense Skin COSM4934596 WHSC1L1 c.1753T>C p.S585P Substitution - Missense Liver COSM4951261 ARID2 c.1080_1081insA p.C362fs*7 Insertion - Frameshift Liver COSM4952287 NCOA6 c.2915-1G>A p.? Unknown Liver COSM4984989 HNF1A c.1460G>A p.S487N Substitution - Missense Liver COSM5031082 KDM6A c.3337_3337G>TCC p.V1113fs*8 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM5019449 ERCC6 c.411G>A p.L137L Substitution - coding silent Breast COSM5015129 BAZ2A c.2275C>T p.R759W Substitution - Missense Kidney COSM5010051 KMT2C c.5547G>A p.K1849K Substitution - coding silent Large_intestine COSM5069860 GTF3C1 c.5541_5542insC p.E1848fs*22 Insertion - Frameshift Large_intestine COSM5065651 ATAD2B_ENST00000238789 c.3221T>C p.L1074P Substitution - Missense Large_intestine COSM5177983 PCGF6 c.782+6T>C p.? Unknown Large_intestine COSM5218217 MYST1 c.914_916delAGA p.K306delK Deletion - In frame Breast COSM5418685 KDM3B c.2879G>A p.S960N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5517824 BAP1 c.404delC p.P135fs*52 Deletion - Frameshift Biliary_tract COSM5520728 CHD8 c.4828A>G p.I1610V Substitution - Missense Liver COSM5431698 ORC1 c.2292C>G p.I764M Substitution - Missense Oesophagus COSM5434069 CHD8 c.3133C>T p.Q1045* Substitution - Nonsense Oesophagus COSM5452242 MYST3 c.3577G>A p.V1193I Substitution - Missense Large_intestine COSM5755321 DOT1L c.629G>A p.G210E Substitution - Missense Large_intestine COSM5722438 SETD1A c.895C>T p.R299W Substitution - Missense Skin COSM5739226 PHF21A c.702G>T p.Q234H Substitution - Missense Small_intestine COSM5748313 BRWD3 c.1496C>T p.T499I Substitution - Missense Pancreas COSM5724942 KMT2A c.6783C>T p.S2261S Substitution - coding silent Skin COSM5605554 ATF2 c.409C>T p.P137S Substitution - Missense Skin COSM5584000 RBBP5 c.914C>T p.P305L Substitution - Missense Skin COSM5614458 EZH1 c.2172C>G p.F724L Substitution - Missense Lung COSM5606738 KMT2D c.5238C>A p.S1746S Substitution - coding silent Skin COSM5700579 KMT2C c.8993C>G p.S2998* Substitution - Nonsense Soft_tissue COSM5762250 ATRX c.4793T>G p.L1598R Substitution - Missense Central_nervous_system COSM5676319 CHD7 c.5176A>G p.S1726G Substitution - Missense Soft_tissue COSM5763460 SMARCC1 c.1386-8C>T p.? Unknown Large_intestine COSM5781481 BAHCC1 c.5605+3G>A p.? Unknown Breast COSM5825365 TAF1 c.3250T>C p.S1084P Substitution - Missense Pancreas COSM5878831 DNMT3A c.1573delG p.A525fs*126 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5823462 BRDT c.2047T>A p.S683T Substitution - Missense Liver COSM5817640 STK31 c.127G>T p.D43Y Substitution - Missense Liver COSM5944377 ASXL1 c.1888_1892delCACCA p.H630fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5920957 CHD9 c.2299C>T p.P767S Substitution - Missense Skin COSM5987324 BRPF3 c.1300C>G p.Q434E Substitution - Missense Salivary_gland COSM6008649 EP300 c.4345C>T p.H1449Y Substitution - Missense Prostate COSM5656404 BAP1 c.? p.D184Y Substitution - Missense Pleura COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3734720 MSH6 c.? p.T1085fs*? Unknown Central_nervous_system COSM5415899 TET2 c.? p.Y1337* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4728266 SMARCA1 c.1134T>C p.L378L Substitution - coding silent Large_intestine COSM5660105 PRDM9 c.2639G>A p.R880K Substitution - Missense Soft_tissue COSM3454803 KDM4D c.616C>T p.L206F Substitution - Missense Skin COSM4918557 SETD2 c.5394A>G p.T1798T Substitution - coding silent Liver COSM4434674 SETD2 c.1340G>A p.R447H Substitution - Missense Oesophagus COSM5752272 KMT2C c.13053delA p.K4351fs*5 Deletion - Frameshift Breast COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM4689182 GTF3C1 c.3751G>A p.D1251N Substitution - Missense Large_intestine COSM3372724 DNMT3A c.1204C>T p.Q402* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1726404 SMARCC1 c.1715G>A p.R572Q Substitution - Missense Liver COSM5416700 CREBBP c.4599T>C p.S1533S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM740719 SHPRH c.3507G>A p.Q1169Q Substitution - coding silent Lung COSM3460962 ARID2 c.699C>T p.F233F Substitution - coding silent Stomach COSM162508 KMT2C c.11617G>C p.E3873Q Substitution - Missense Breast COSM908432 PHC2 c.209C>T p.T70M Substitution - Missense Endometrium COSM1383978 CBX1 c.12delA p.K4fs*11 Deletion - Frameshift Large_intestine COSM5431545 SETD1A c.4943G>A p.C1648Y Substitution - Missense Oesophagus COSM1411327 NCOA6 c.1051G>A p.G351S Substitution - Missense Large_intestine COSM85804 DAXX c.211_211delC p.E72fs*72 Deletion - Frameshift Pancreas COSM4104429 EP300 c.1109G>A p.R370H Substitution - Missense Large_intestine COSM53041 EZH2 c.2195+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM414014 PYGO2 c.157C>T p.P53S Substitution - Missense Urinary_tract COSM230133 KMT2C c.1173C>A p.C391* Substitution - Nonsense Soft_tissue COSM4787974 PHF20 c.299G>A p.C100Y Substitution - Missense Liver COSM3854578 PRDM9 c.2611G>A p.D871N Substitution - Missense Skin COSM3972066 SP100 c.745G>A p.E249K Substitution - Missense Central_nervous_system COSM5061285 CHD1 c.1177C>T p.R393C Substitution - Missense Large_intestine COSM3358908 BTAF1 c.175C>T p.R59W Substitution - Missense Kidney COSM4663917 ASXL3 c.172G>C p.E58Q Substitution - Missense Large_intestine COSM6018255 CBX7 c.347G>A p.G116E Substitution - Missense Skin COSM1710867 CBX2 c.301C>T p.P101S Substitution - Missense Skin COSM4383920 TET2 c.3821A>G p.Q1274R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1179107 KMT2C c.851G>A p.R284Q Substitution - Missense Soft_tissue COSM941764 BAZ2A c.2626C>T p.R876* Substitution - Nonsense Endometrium COSM2828774 SETD5_ENST00000402198 c.1280C>T p.P427L Substitution - Missense Pancreas COSM3423648 CHD6 c.7197C>T p.S2399S Substitution - coding silent Large_intestine COSM43504 TET2 c.2290_2291insC p.Q764fs*5 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4728612 SMYD3 c.494G>A p.R165Q Substitution - Missense Large_intestine COSM3669090 ZBTB38 c.1338C>T p.D446D Substitution - coding silent Liver COSM216424 AP001011.3_ENST00000320876 c.2940C>T p.V980V Substitution - coding silent Pancreas COSM4530417 BRD3 c.1699G>A p.E567K Substitution - Missense Skin COSM4038331 PRDM4 c.451C>T p.Q151* Substitution - Nonsense Stomach COSM3547345 EYA2 c.1436G>A p.G479E Substitution - Missense Skin COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1738265 SETMAR c.677G>C p.C226S Substitution - Missense Ovary COSM1082909 ACTL6B c.1176C>T p.I392I Substitution - coding silent Endometrium COSM3291726 CHD6 c.1773C>T p.H591H Substitution - coding silent Large_intestine COSM85916 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4603590 KMT2C c.2448_2449insA p.I817fs*11 Insertion - Frameshift Upper_aerodigestive_tract COSM4996745 PHF3 c.1124T>C p.L375S Substitution - Missense Upper_aerodigestive_tract COSM79550 BRPF3 c.2991C>T p.G997G Substitution - coding silent Ovary COSM43417 TET2 c.2746C>T p.Q916* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Bone COSM954451 CHD8 c.1592G>A p.S531N Substitution - Missense Endometrium COSM938872 PRMT8 c.757G>A p.V253M Substitution - Missense Endometrium COSM5932963 APOBEC1 c.410G>A p.S137N Substitution - Missense Skin COSM5347409 ATF7IP c.2814_2818delAACAA p.K938fs*7 Deletion - Frameshift Liver COSM1666343 RNF2 c.926T>G p.F309C Substitution - Missense Eye COSM2150871 TDRD7 c.2723C>G p.S908* Substitution - Nonsense Central_nervous_system COSM4072450 MBD1 c.1036C>T p.R346W Substitution - Missense Large_intestine COSM1407048 NCOA1 c.2296C>A p.L766M Substitution - Missense Large_intestine COSM1460905 WDR5 c.642delC p.V217fs*4 Deletion - Frameshift Large_intestine COSM1757288 TAF1 c.3229C>G p.L1077V Substitution - Missense Urinary_tract COSM5691298 SMARCA4 c.3156C>G p.F1052L Substitution - Missense Soft_tissue COSM5550359 KDM4B c.2032G>A p.A678T Substitution - Missense Prostate COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Kidney COSM1728674 RNF17 c.87A>T p.E29D Substitution - Missense Liver COSM51218 ARID1A c.4001_4002insGCA p.Q1334_R1335insQ Insertion - In frame Ovary COSM4557218 DIDO1 c.719G>A p.G240E Substitution - Missense Skin COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Prostate COSM3501112 MGA c.7683G>A p.K2561K Substitution - coding silent Skin COSM4015128 JMJD1C c.661G>A p.D221N Substitution - Missense Stomach COSM458027 HDAC8 c.932C>T p.T311M Substitution - Missense Stomach COSM4394233 STK31 c.2327C>T p.T776I Substitution - Missense Skin COSM293624 CREBBP c.5219A>G p.H1740R Substitution - Missense Large_intestine COSM5810290 SFMBT1 c.1059C>T p.S353S Substitution - coding silent Liver COSM5464930 CHD6 c.2716C>T p.R906C Substitution - Missense Large_intestine COSM4162024 KMT2C c.946A>T p.T316S Substitution - Missense Upper_aerodigestive_tract COSM4564665 BAZ2A c.1447_1448CC>TT p.P483L Substitution - Missense Skin COSM1487831 CDYL c.1452C>T p.G484G Substitution - coding silent Breast COSM3433092 TAF1L c.3043C>T p.R1015C Substitution - Missense Large_intestine COSM4597864 PRDM9 c.2272C>A p.R758S Substitution - Missense Large_intestine COSM985536 CHD3 c.5676C>T p.I1892I Substitution - coding silent Endometrium COSM399443 EPC2 c.2320A>C p.T774P Substitution - Missense Lung COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1666862 ARID1A c.? p.? Unknown Endometrium COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5458263 MTA2 c.701C>T p.A234V Substitution - Missense Large_intestine COSM5725490 ZBTB4 c.181A>C p.T61P Substitution - Missense Skin COSM243166 BAP1 c.508T>G p.F170V Substitution - Missense Kidney COSM4645107 SETD1B c.853G>A p.V285I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3820337 BPTF c.5404C>T p.P1802S Substitution - Missense Breast COSM1495281 L3MBTL2 c.557A>G p.K186R Substitution - Missense Kidney COSM5902395 RAI1 c.2275G>T p.G759* Substitution - Nonsense Skin COSM3380240 KDM3A c.3017T>C p.L1006P Substitution - Missense Pancreas COSM99741 DNMT3A c.2096G>A p.G699D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5051628 KMT2D c.15044C>G p.P5015R Substitution - Missense Stomach COSM1211709 KDM1B c.89C>A p.A30E Substitution - Missense Large_intestine COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5604089 MGA c.4748C>T p.P1583L Substitution - Missense Skin COSM1231712 UHRF2 c.2276G>A p.R759H Substitution - Missense Large_intestine COSM1321526 TDRD1 c.2479C>T p.R827W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1133057 SMARCB1 c.?_?del? p.? Unknown Central_nervous_system COSM924953 PRDM10 c.979G>A p.A327T Substitution - Missense Large_intestine COSM937151 EP400 c.2659G>A p.A887T Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1080939 PHF3 c.6T>C p.D2D Substitution - coding silent Endometrium COSM3704185 KMT2D c.3332G>A p.G1111D Substitution - Missense Liver COSM3845018 SMC1A c.3393G>A p.G1131G Substitution - coding silent Breast COSM5075565 BAP1 c.1865_1866delTG p.L622fs*1 Deletion - Frameshift Kidney COSM896934 ASH1L c.2985G>T p.K995N Substitution - Missense Endometrium COSM298782 RBBP5 c.295G>A p.D99N Substitution - Missense Large_intestine COSM1067089 PRDM9 c.1781T>A p.V594D Substitution - Missense Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4643400 SCML2 c.623G>A p.G208D Substitution - Missense Large_intestine COSM1442455 HDGFL1 c.465C>T p.D155D Substitution - coding silent Large_intestine COSM1753996 KDM3B c.795A>T p.K265N Substitution - Missense Urinary_tract COSM5726404 NIPBL c.1864G>A p.E622K Substitution - Missense Skin COSM1163158 HDAC5 c.1717_1718insC p.R573fs*8 Insertion - Frameshift Pancreas COSM4742915 ZMYM3 c.3004A>G p.K1002E Substitution - Missense Large_intestine COSM2725382 SMARCA1 c.1370G>A p.R457Q Substitution - Missense Large_intestine COSM5006800 SETDB1 c.791T>G p.V264G Substitution - Missense Large_intestine COSM5751227 CREBBP c.6141_6142insA p.V2048fs*293 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2890642 PRMT2 c.177C>T p.I59I Substitution - coding silent Skin COSM1049125 BRPF1 c.896C>T p.A299V Substitution - Missense Endometrium COSM4423598 MBTD1 c.1109A>G p.D370G Substitution - Missense Central_nervous_system COSM1738043 TET2 c.? p.Q749fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM228558 GLYATL1 c.476C>T p.S159L Substitution - Missense Skin COSM4777680 MLL5 c.4599_4600insG p.F1534fs*2 Insertion - Frameshift Prostate COSM4979434 RSF1 c.1242G>C p.L414F Substitution - Missense Oesophagus COSM4107995 HCFC1 c.353A>G p.K118R Substitution - Missense Stomach COSM85913 IKZF1 c.1-?_160+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3824894 TET2 c.2147C>T p.S716L Substitution - Missense Breast COSM1077965 RING1 c.234G>A p.R78R Substitution - coding silent Endometrium COSM259539 ATAD2B_ENST00000238789 c.1733G>T p.R578I Substitution - Missense Large_intestine COSM5519197 SETD8 c.290-9C>T p.? Unknown Biliary_tract COSM5944282 TET2 c.3088delC p.Q1030fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM361828 CREBBP c.4198G>T p.E1400* Substitution - Nonsense Lung COSM1659917 EP300 c.1608C>T p.A536A Substitution - coding silent Kidney COSM4146853 EP400 c.6646A>C p.T2216P Substitution - Missense Upper_aerodigestive_tract COSM4944561 PRDM5 c.945+8A>G p.? Unknown Liver COSM3393521 PRDM9 c.610+7G>T p.? Unknown Pancreas COSM4694066 KAT6B c.4611C>T p.I1537I Substitution - coding silent Large_intestine COSM3461533 KMT2D c.12189G>A p.E4063E Substitution - coding silent Skin COSM3824309 BAP1 c.1696G>A p.E566K Substitution - Missense Breast COSM5575661 KAT6B c.688A>G p.K230E Substitution - Missense Stomach COSM4648705 DHX30 c.2367C>A p.G789G Substitution - coding silent Large_intestine COSM5716478 PCGF2 c.351C>T p.V117V Substitution - coding silent Skin COSM40628 SMARCA4 c.130G>A p.G44R Substitution - Missense Central_nervous_system COSM896906 ASH1L c.7744C>T p.R2582C Substitution - Missense Endometrium COSM339021 EZH1 c.2116G>C p.D706H Substitution - Missense Lung COSM74868 HAT1 c.1034C>T p.A345V Substitution - Missense Ovary COSM1363761 CHD4 c.1715G>A p.R572Q Substitution - Missense Large_intestine COSM1088634 STK31 c.1360G>T p.D454Y Substitution - Missense Endometrium COSM4943285 PBRM1 c.3427C>G p.P1143A Substitution - Missense Breast COSM254541 ARID1A c.3634C>T p.Q1212* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM100082 KMT2C c.8390_8390delA p.K2797fs*26 Deletion - Frameshift Large_intestine COSM3684978 PHF14 c.1456-4A>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5012368 DPF2 c.808A>C p.N270H Substitution - Missense Kidney COSM1168022 TET2 c.1290_1291TT>G p.L431fs*1 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM1713593 EYA2 c.289C>T p.P97S Substitution - Missense Skin COSM133738 DNMT3A c.2032C>T p.Q678* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1445549 PHF3 c.1589G>A p.R530Q Substitution - Missense Stomach COSM4502149 CHD8 c.6068C>T p.T2023I Substitution - Missense Skin COSM4060720 CREBBP c.535G>A p.A179T Substitution - Missense Stomach COSM1422291 ZCWPW2 c.167A>C p.E56A Substitution - Missense Large_intestine COSM1581518 PRDM1 c.823A>C p.K275Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM234202 ARID1A c.3391C>T p.Q1131* Substitution - Nonsense Skin COSM5794201 PRMT3 c.470C>G p.S157C Substitution - Missense Breast COSM161473 HDAC9 c.2323-1G>T p.? Unknown Large_intestine COSM5627118 TET2 c.4045-1G>A p.? Unknown Oesophagus COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5413500 TRRAP c.7968C>T p.C2656C Substitution - coding silent Skin COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1756778 KDM5A c.1999G>C p.E667Q Substitution - Missense Urinary_tract COSM4015482 SFMBT2 c.2308G>A p.V770M Substitution - Missense Stomach COSM4788275 KDM4C c.754T>C p.L252L Substitution - coding silent Liver COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5986525 KMT2D c.2097_2098insC p.A701fs*16 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4074030 SMARCA4 c.1889G>A p.G630D Substitution - Missense Stomach COSM2068706 HDAC7 c.2781G>A p.A927A Substitution - coding silent Large_intestine COSM3936253 MPHOSPH8 c.961G>C p.E321Q Substitution - Missense Oesophagus COSM4949666 KMT2C c.2815T>G p.S939A Substitution - Missense Liver COSM3695907 MECOM c.218C>T p.T73M Substitution - Missense Large_intestine COSM41710 TET2 c.4723_4745del23 p.P1575fs*31 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3358449 SETD2 c.5815_5816insC p.T1940fs*3 Insertion - Frameshift Kidney COSM4556515 NSD1 c.6949G>A p.D2317N Substitution - Missense Skin COSM3189285 EZH1 c.1669C>T p.R557C Substitution - Missense Skin COSM4153727 MLL5 c.3705C>T p.C1235C Substitution - coding silent Ovary COSM5552499 ZMYND8 c.2219A>G p.D740G Substitution - Missense Prostate COSM3785059 HDAC9 c.301G>A p.E101K Substitution - Missense Pancreas COSM30364 SETD2 c.92_122del31 p.P31fs*35 Deletion - Frameshift Kidney COSM3978099 TDRD1 c.281G>T p.G94V Substitution - Missense Lung COSM1315851 EZH2 c.2045C>T p.A682V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM1385207 SMARCD2 c.107delC p.P36fs*20 Deletion - Frameshift Large_intestine COSM238989 BRWD3 c.3551A>C p.Y1184S Substitution - Missense Prostate COSM4021563 PRDM2 c.4311C>T p.N1437N Substitution - coding silent Stomach COSM1479899 BPTF c.6087G>T p.R2029S Substitution - Missense Breast COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Bone COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Bone COSM3726026 CREBBP c.1521G>T p.Q507H Substitution - Missense Lung COSM430253 PRDM4 c.1687C>T p.L563L Substitution - coding silent Breast COSM355306 CHD7 c.7441C>G p.Q2481E Substitution - Missense Lung COSM4421891 RAI1 c.3743G>C p.S1248T Substitution - Missense Pleura COSM4029315 ACTA1 c.477C>T p.D159D Substitution - coding silent Stomach COSM4825653 EHMT1 c.610G>T p.E204* Substitution - Nonsense Cervix COSM993 SMARCB1 c.601C>T p.R201* Substitution - Nonsense Central_nervous_system COSM932205 RSF1 c.627T>C p.I209I Substitution - coding silent Endometrium COSM1716180 EZH2 c.? p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5574198 KMT2D c.326T>C p.V109A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5134295 KDM4B c.2820C>T p.I940I Substitution - coding silent Large_intestine COSM727030 EP300 c.4173-2A>G p.? Unknown Lung COSM3547326 EYA2 c.145C>T p.L49F Substitution - Missense Skin COSM5351698 DNMT3A c.2114_2115insG p.I705fs*8 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5055688 SMARCD2 c.179G>A p.R60Q Substitution - Missense Stomach COSM5923275 SETBP1 c.3215C>T p.P1072L Substitution - Missense Skin COSM1582476 BRD1 c.2311G>A p.G771S Substitution - Missense Stomach COSM4167359 ZMYM3 c.1279G>A p.V427M Substitution - Missense Meninges COSM236015 NIPBL c.928G>A p.V310I Substitution - Missense Autonomic_ganglia COSM5453928 TDRD10 c.1098C>A p.A366A Substitution - coding silent Large_intestine COSM4791122 PRDM9 c.2652G>C p.G884G Substitution - coding silent Liver COSM4410598 PBRM1 c.1168_1169insT p.Y390fs*2 Insertion - Frameshift Kidney COSM5635623 KDM3A c.2762C>A p.S921Y Substitution - Missense Oesophagus COSM42034 TET2 c.4183-1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1307765 SETD4 c.1269G>C p.K423N Substitution - Missense Urinary_tract COSM483991 BRPF3 c.3012A>G p.K1004K Substitution - coding silent Kidney COSM684732 JMJD1C c.6171A>T p.E2057D Substitution - Missense Lung COSM3785380 ASXL1 c.2034G>T p.R678S Substitution - Missense Pancreas COSM4156351 TCF20 c.4367C>G p.A1456G Substitution - Missense Thyroid COSM5134900 KDM6B c.3075C>T p.S1025S Substitution - coding silent Large_intestine COSM4977962 KMT2D c.3394C>T p.H1132Y Substitution - Missense Skin COSM4610839 PRDM2 c.852delT p.D284fs*22 Deletion - Frameshift Large_intestine COSM5048978 RSF1 c.1172T>A p.L391Q Substitution - Missense Oesophagus COSM303187 SFMBT2 c.2103G>T p.Q701H Substitution - Missense Central_nervous_system COSM37029 EZH2 c.1937A>C p.Y646S Substitution - Missense Skin COSM4630912 MINA c.1053A>G p.T351T Substitution - coding silent Large_intestine COSM42075 TET2 c.3965T>C p.L1322P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1640116 ARID4A c.1259delA p.D423fs*2 Deletion - Frameshift Large_intestine COSM215581 CHD8 c.3725G>A p.R1242Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5796890 BRWD1 c.23G>A p.R8Q Substitution - Missense Breast COSM85981 ATRX c.236C>G p.S79* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4542475 DNMT1 c.3144G>A p.E1048E Substitution - coding silent Skin COSM3447088 RAG2 c.1340C>T p.S447F Substitution - Missense Skin COSM147635 EP400 c.3099G>A p.P1033P Substitution - coding silent Stomach COSM3733274 KMT2D c.15283C>T p.Q5095* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1211250 JARID2 c.1160G>A p.R387H Substitution - Missense Large_intestine COSM244718 GLYR1 c.456A>G p.S152S Substitution - coding silent Prostate COSM211613 TET2 c.2626C>T p.Q876* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5654121 PHF20L1 c.12G>T p.K4N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM100070 TET2 c.2887C>T p.Q963* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3857236 PRDM1 c.635A>G p.Y212C Substitution - Missense Stomach COSM1215168 KMT2A c.3941C>T p.P1314L Substitution - Missense Stomach COSM5990102 TET2 c.4784delT p.M1595fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3108905 GTF3C1 c.2739C>T p.P913P Substitution - coding silent Large_intestine COSM5479139 CHD9 c.4247C>A p.S1416Y Substitution - Missense Large_intestine COSM5784059 SIRT1 c.1822G>A p.G608R Substitution - Missense Breast COSM4569536 RERE c.1822T>C p.S608P Substitution - Missense Skin COSM5039301 DNMT3A c.939G>T p.W313C Substitution - Missense Liver COSM144623 KMT2D c.14736_14736delC p.V4914fs*59 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1669702 IDH1 c.290G>A p.G97D Substitution - Missense Large_intestine COSM4995457 KDM4A c.2737C>A p.R913S Substitution - Missense Upper_aerodigestive_tract COSM5947835 CHD4 c.1872C>A p.I624I Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1427321 SMARCA5 c.1678C>T p.R560C Substitution - Missense Large_intestine COSM4915021 PHF3 c.2351C>G p.T784S Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM945775 MPHOSPH8 c.2386G>C p.A796P Substitution - Missense Endometrium COSM80621 TDRD5 c.1728C>T p.F576F Substitution - coding silent Ovary COSM4617846 RERE c.3652A>G p.S1218G Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM303905 DNMT3A c.1928_1929insT p.A644fs*24 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5608361 EP300 c.3589A>T p.R1197W Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1454663 ATAD2 c.354_355insA p.E119fs*18 Insertion - Frameshift Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4384628 KMT2A c.11584G>A p.V3862I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4059781 CCDC101 c.125A>G p.H42R Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3921351 TCF19 c.304C>T p.L102L Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1028975 DIDO1 c.4110C>A p.F1370L Substitution - Missense Endometrium COSM1659156 MEN1 c.496C>T p.Q166* Substitution - Nonsense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3422105 AP001011.3_ENST00000320876 c.1807G>T p.E603* Substitution - Nonsense Large_intestine COSM3386055 ARID1A c.1258C>T p.Q420* Substitution - Nonsense Pancreas COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Bone COSM3721156 CBX4 c.1524A>G p.A508A Substitution - coding silent Upper_aerodigestive_tract COSM5730218 TDRD7 c.3070delC p.A1025fs*3 Deletion - Frameshift Skin COSM3733287 SMARCA4 c.4600C>A p.Q1534K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1179261 GABRG1 c.239G>A p.R80H Substitution - Missense Prostate COSM4389056 CHD6 c.4105G>A p.E1369K Substitution - Missense Pancreas COSM166748 PRDM9 c.2295A>T p.R765S Substitution - Missense Bone COSM3974271 PHC3 c.2019T>C p.P673P Substitution - coding silent Central_nervous_system COSM251412 ARID2 c.1073C>G p.T358S Substitution - Missense Liver COSM423163 PBRM1 c.4379delC p.P1460fs*29 Deletion - Frameshift Kidney COSM3993723 CLOCK c.2375T>C p.L792P Substitution - Missense Kidney COSM908431 PHC2 c.210G>A p.T70T Substitution - coding silent Endometrium COSM1479275 NCOR1 c.1573_1574insA p.T525fs*11 Insertion - Frameshift Breast COSM609137 KIAA2026_ENST00000399933 c.175G>C p.E59Q Substitution - Missense Cervix COSM4109600 PHF16 c.1375C>T p.Q459* Substitution - Nonsense Stomach COSM4753646 MGA c.4000A>C p.K1334Q Substitution - Missense Stomach COSM5583098 ZBTB4 c.1940A>G p.E647G Substitution - Missense Skin COSM1679940 AKAP1 c.1909T>C p.S637P Substitution - Missense Prostate COSM4468194 KDM4B c.1530C>T p.P510P Substitution - coding silent Skin COSM3554484 CBX7 c.468C>T p.F156F Substitution - coding silent Skin COSM5475355 ZMYM3 c.3946G>A p.D1316N Substitution - Missense Large_intestine COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM22577 MEN1 c.247_250delCTGT p.I85fs*33 Deletion - Frameshift Stomach COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85089 KMT2C c.14343+1G>A p.? Unknown Pancreas COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM80512 SFMBT2 c.1662G>A p.S554S Substitution - coding silent Ovary COSM88162 BAZ1A c.113+2T>G p.? Unknown Central_nervous_system COSM100049 PRDM1 c.556+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Upper_aerodigestive_tract COSM165604 WHSC1L1 c.196C>G p.L66V Substitution - Missense Breast COSM187721 EP300 c.4886C>T p.A1629V Substitution - Missense Endometrium COSM204013 EP400 c.8653G>A p.V2885I Substitution - Missense Stomach COSM245704 KMT2A c.6222C>T p.C2074C Substitution - coding silent Skin COSM238538 KMT2C c.14059delT p.Y4687fs*29 Deletion - Frameshift Prostate COSM270378 TP53BP1 c.5888C>T p.P1963L Substitution - Missense Large_intestine COSM262916 PHC3 c.2334T>G p.F778L Substitution - Missense Large_intestine COSM298374 PRDM1 c.968C>T p.T323M Substitution - Missense Endometrium COSM297068 PHF2 c.2961C>A p.T987T Substitution - coding silent Lung COSM358425 SIRT1 c.547+1G>A p.? Unknown Lung COSM373068 DIDO1 c.1148A>C p.K383T Substitution - Missense Lung COSM426101 HDAC1 c.1135G>T p.V379F Substitution - Missense Breast COSM437705 CBX2 c.939C>T p.S313S Substitution - coding silent Prostate COSM430522 HNF1A c.79A>C p.I27L Substitution - Missense Liver COSM469215 ZMYM5 c.157G>T p.D53Y Substitution - Missense Kidney COSM690891 KDM4D c.681C>A p.A227A Substitution - coding silent Lung COSM693688 KMT2D c.6135C>G p.H2045Q Substitution - Missense Lung COSM679183 ACTA1 c.69C>T p.F23F Substitution - coding silent Oesophagus COSM954003 MTA1 c.1353C>A p.H451Q Substitution - Missense Endometrium COSM745591 HDAC9 c.2698C>A p.P900T Substitution - Missense Lung COSM743048 PHIP c.455C>T p.S152L Substitution - Missense Lung COSM725151 BRWD1 c.4018C>A p.Q1340K Substitution - Missense Lung COSM908647 ZMYM1 c.2836G>A p.D946N Substitution - Missense Endometrium COSM958932 UBR7 c.602-1G>A p.? Unknown Endometrium COSM1041036 PHC3 c.2487G>A p.A829A Substitution - coding silent Endometrium COSM1088185 HDAC9 c.2057G>A p.R686Q Substitution - Missense Skin COSM1100837 CHD7 c.5439C>T p.P1813P Substitution - coding silent Endometrium COSM1192348 JMJD1C c.124C>T p.R42* Substitution - Nonsense Kidney COSM1235988 CHD3 c.2593A>G p.I865V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1189616 BAHCC1 c.4835C>G p.S1612C Substitution - Missense Lung COSM1160983 RAG2 c.628A>G p.I210V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1171712 SFMBT2 c.685T>C p.Y229H Substitution - Missense Oesophagus COSM1606375 SMARCC2 c.2762A>G p.E921G Substitution - Missense Liver COSM1299684 BAZ2A c.2811C>T p.V937V Substitution - coding silent Urinary_tract COSM1316757 PRDM10 c.3469T>G p.*1157G Nonstop extension Haematopoietic_and_lymphoid_tissue COSM1367377 PHF11 c.380G>A p.C127Y Substitution - Missense Large_intestine COSM1608857 CHD2 c.1419A>T p.Q473H Substitution - Missense Liver COSM1476875 YEATS4 c.680_681insA p.*228fs? Insertion - Frameshift Breast COSM1478722 GTF3C1 c.3456C>G p.L1152L Substitution - coding silent Breast COSM1583081 DNMT3A c.1779_1779delG p.L594fs*57 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1581044 IDH1 c.59G>A p.R20Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1631779 IDH1 c.145C>T p.R49C Substitution - Missense Skin COSM1675009 EHMT1 c.1A>G p.M1V Substitution - Missense Central_nervous_system COSM1700242 EYA1 c.1214G>A p.G405E Substitution - Missense Skin COSM1753302 BAP1 c.505C>T p.H169Y Substitution - Missense Upper_aerodigestive_tract COSM1756308 TDRD7 c.2059G>A p.E687K Substitution - Missense Urinary_tract COSM1747147 SMARCC2 c.1142-1G>C p.? Unknown Urinary_tract COSM2151251 DHX30 c.2545G>A p.D849N Substitution - Missense Central_nervous_system COSM2183191 VPS72 c.638C>T p.T213I Substitution - Missense Large_intestine COSM2145458 ERCC6 c.2218C>T p.P740S Substitution - Missense Skin COSM2131006 SUV39H2 c.2T>G p.M1R Substitution - Missense Large_intestine COSM2210717 ASH1L c.3616G>T p.D1206Y Substitution - Missense Large_intestine COSM2235488 ARID1A c.3277delA p.K1094fs*67 Deletion - Frameshift Large_intestine COSM2759328 PHF20 c.904C>T p.R302W Substitution - Missense Large_intestine COSM3112881 SRCAP c.3046C>T p.R1016W Substitution - Missense Skin COSM3370871 BPTF c.6892G>T p.E2298* Substitution - Nonsense Thyroid COSM3388264 CBX2 c.116+5G>A p.? Unknown Pancreas COSM3394124 DAXX c.1384G>T p.E462* Substitution - Nonsense Pancreas COSM3414290 PHF16 c.133C>T p.R45W Substitution - Missense Oesophagus COSM3396818 BAZ1B c.250T>A p.Y84N Substitution - Missense Breast COSM3415762 PRMT3 c.1044G>T p.K348N Substitution - Missense Large_intestine COSM3631652 MLL5 c.1328C>T p.T443I Substitution - Missense Skin COSM3618963 CHD1 c.1038G>T p.M346I Substitution - Missense Skin COSM3618964 PRDM13 c.188C>T p.S63F Substitution - Missense Skin COSM3589907 MECOM c.253C>T p.P85S Substitution - Missense Skin COSM3567445 MBD5 c.1537G>A p.D513N Substitution - Missense Skin COSM3529213 MUM1 c.246C>T p.P82P Substitution - coding silent Skin COSM3659908 SMEK2 c.679G>A p.E227K Substitution - Missense Liver COSM3703899 HNF1A c.1234A>G p.M412V Substitution - Missense Liver COSM3720051 TET2 c.2113C>T p.Q705* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3711879 CHD2 c.4488A>G p.Q1496Q Substitution - coding silent Upper_aerodigestive_tract COSM3737884 PHF1 c.538C>T p.H180Y Substitution - Missense Soft_tissue COSM3742583 SMCHD1 c.1325C>T p.T442I Substitution - Missense Liver COSM3762594 STK31 c.213G>C p.Q71H Substitution - Missense Pancreas COSM3874633 CDYL c.1785C>T p.I595I Substitution - coding silent Stomach COSM3984848 KDM1A c.747G>A p.L249L Substitution - coding silent Kidney COSM3989117 MYST2 c.18G>T p.R6S Substitution - Missense Kidney COSM4090679 IDH1 c.375A>G p.V125V Substitution - coding silent Stomach COSM4185938 RERE c.2868delC p.F957fs*3 Deletion - Frameshift Kidney COSM4383531 DNMT3A c.2524C>G p.Q842E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384618 KMT2A c.9224C>G p.T3075S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4400793 CBX4 c.1421A>G p.D474G Substitution - Missense Skin COSM4603241 KDM6B c.761_762insACCACC p.P264_L265insPP Insertion - In frame Upper_aerodigestive_tract COSM4418899 KIAA2026_ENST00000399933 c.982T>C p.L328L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4442672 BTAF1 c.4150G>T p.D1384Y Substitution - Missense Large_intestine COSM4489614 C5orf35 c.34C>T p.R12* Substitution - Nonsense Skin COSM4591270 KMT2C c.2512G>A p.G838S Substitution - Missense Upper_aerodigestive_tract COSM4555907 SRCAP c.672G>A p.K224K Substitution - coding silent Skin COSM4447694 BAHCC1 c.3163G>A p.D1055N Substitution - Missense Skin COSM4424045 ATXN7 c.110_116delAGCAGCA p.Q37fs*51 Deletion - Frameshift Prostate COSM4411041 ZMYM5 c.530T>C p.M177T Substitution - Missense Kidney COSM4770177 PBRM1 c.4576+5_4576+6insGAG p.? Unknown Soft_tissue COSM4666310 BTAF1 c.1629G>A p.T543T Substitution - coding silent Large_intestine COSM4695042 KDM6A c.3942delA p.E1316fs*40 Deletion - Frameshift Large_intestine COSM4740045 UTY c.3655C>T p.H1219Y Substitution - Missense Large_intestine COSM4742893 ZMYM2 c.1727A>C p.K576T Substitution - Missense Large_intestine COSM4710321 ORC1 c.429G>T p.V143V Substitution - coding silent Large_intestine COSM4663234 ARID1A c.6763G>A p.E2255K Substitution - Missense Large_intestine COSM4766645 ASH1L c.7032G>A p.M2344I Substitution - Missense Stomach COSM4771861 PHF2 c.3273C>T p.N1091N Substitution - coding silent Stomach COSM4794621 PRDM9 c.696G>A p.K232K Substitution - coding silent Liver COSM4930261 MTA1 c.1382C>G p.P461R Substitution - Missense Liver COSM4913527 SHPRH c.1741G>T p.V581F Substitution - Missense Liver COSM4929809 SP140_ENST00000392045 c.24G>A p.G8G Substitution - coding silent Liver COSM4850815 PHF8 c.667G>A p.E223K Substitution - Missense Cervix COSM4960848 KDM4C c.2610G>A p.V870V Substitution - coding silent Liver COSM5012238 TDRD1 c.892A>T p.S298C Substitution - Missense Kidney COSM5103678 ATRX c.1110T>C p.Y370Y Substitution - coding silent Large_intestine COSM5155686 MSL3 c.731A>G p.Y244C Substitution - Missense Large_intestine COSM5411853 MSL3 c.582G>A p.R194R Substitution - coding silent Skin COSM5354982 SETD2 c.4771delA p.R1591fs*53 Deletion - Frameshift Large_intestine COSM5499012 WHSC1L1 c.1629T>C p.L543L Substitution - coding silent Biliary_tract COSM5503561 WDR5 c.54C>T p.T18T Substitution - coding silent Biliary_tract COSM5468848 WDR5 c.246C>T p.T82T Substitution - coding silent Large_intestine COSM5433710 BRDT c.216C>A p.N72K Substitution - Missense Oesophagus COSM5431999 BRWD3 c.5296G>C p.D1766H Substitution - Missense Oesophagus COSM5652063 BRWD1 c.2136A>G p.Q712Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5718116 EYA2 c.491C>T p.P164L Substitution - Missense Skin COSM5609416 KMT2A c.10374C>T p.L3458L Substitution - coding silent Skin COSM5595420 TDRD7 c.866C>T p.P289L Substitution - Missense Skin COSM5731391 MBD6 c.2440delC p.E816fs*19 Deletion - Frameshift Central_nervous_system COSM5587963 HCFC2 c.1272C>T p.I424I Substitution - coding silent Skin COSM5680068 DOT1L c.1102G>T p.A368S Substitution - Missense Soft_tissue COSM5711005 EYA1 c.1672G>A p.V558I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5878924 TET2 c.480_481insA p.D162fs*9 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5808469 KDM4C c.1222G>A p.D408N Substitution - Missense Liver COSM5812035 CHD3 c.3559C>T p.R1187C Substitution - Missense Liver COSM5911492 RBBP5 c.1167-1G>A p.? Unknown Skin COSM5966153 ARID2 c.2764A>G p.T922A Substitution - Missense Adrenal_gland COSM6000164 PRDM10 c.1255G>A p.E419K Substitution - Missense Prostate COSM6009007 KMT2D c.677A>G p.E226G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6003791 KDM4B c.1786-7G>C p.? Unknown Prostate COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5945011 TET2 c.103C>T p.Q35* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1197419 ASH1L c.7750A>G p.I2584V Substitution - Missense Lung COSM6003824 BRD4 c.2159-8C>G p.? Unknown Prostate COSM254611 CHD6 c.7155G>C p.Q2385H Substitution - Missense Urinary_tract COSM3531603 DOT1L c.3030C>T p.P1010P Substitution - coding silent Skin COSM4312146 DNMT3A c.953G>A p.R318Q Substitution - Missense Oesophagus COSM5019040 ERCC6 c.1196G>A p.G399D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM1211729 KDM3B c.3820T>G p.F1274V Substitution - Missense Large_intestine COSM1046987 BAP1 c.1944G>A p.A648A Substitution - coding silent Endometrium COSM5365720 DOT1L c.2002G>A p.A668T Substitution - Missense Large_intestine COSM46432 HNF1A c.608G>T p.R203L Substitution - Missense Liver COSM703039 CREBBP c.6989T>G p.L2330R Substitution - Missense Lung COSM3940667 SETD5_ENST00000402198 c.2555C>T p.S852F Substitution - Missense Oesophagus COSM5034319 PRDM2 c.3900A>C p.P1300P Substitution - coding silent Skin COSM992142 BRD4 c.1707T>A p.P569P Substitution - coding silent Endometrium COSM448603 PHF15 c.1273G>A p.D425N Substitution - Missense Breast COSM702816 GTF3C1 c.2132G>T p.R711L Substitution - Missense Lung COSM1026872 CHD6 c.3219C>T p.S1073S Substitution - coding silent Upper_aerodigestive_tract COSM1230629 TRRAP c.5C>T p.A2V Substitution - Missense Stomach COSM52983 EZH2 c.2180_2182TGT>GG p.L727fs*13 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM1290497 JMJD5 c.680A>G p.Q227R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1204294 DNMT1 c.4283T>A p.I1428N Substitution - Missense Large_intestine COSM4598821 GTF3C1 c.1770G>T p.K590N Substitution - Missense Upper_aerodigestive_tract COSM4695036 KDM6A c.2548G>T p.G850W Substitution - Missense Large_intestine COSM41644 TET2 c.1648C>T p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3408407 MECOM c.1848C>T p.N616N Substitution - coding silent Central_nervous_system COSM1095771 ATAD2 c.816T>C p.D272D Substitution - coding silent Urinary_tract COSM5730764 KMT2D c.9751C>G p.L3251V Substitution - Missense Breast COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Large_intestine COSM4695033 KDM6A c.2358A>G p.G786G Substitution - coding silent Large_intestine COSM41644 TET2 c.1648C>T p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1755316 ACTB c.1031C>G p.S344C Substitution - Missense Urinary_tract COSM4385666 KMT2D c.13236_13237insC p.H4415fs*5 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1466682 HCFC1 c.5684G>A p.G1895D Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM4674145 BMI1 c.927C>A p.A309A Substitution - coding silent Large_intestine COSM1185007 BTAF1 c.3881G>T p.G1294V Substitution - Missense Large_intestine COSM1717430 BAP1 c.? p.F81L Substitution - Missense Biliary_tract COSM5628461 ATF2 c.1203G>T p.L401L Substitution - coding silent Oesophagus COSM3731429 SMARCC2 c.3128_3129insC p.G1044fs*33 Insertion - Frameshift Large_intestine COSM1057 SMARCB1 c.1148delC p.P383fs*>3 Deletion - Frameshift Central_nervous_system COSM2874583 NCOA2 c.3200A>G p.H1067R Substitution - Missense Large_intestine COSM4701396 MECOM c.613C>T p.R205C Substitution - Missense Large_intestine COSM238944 BAZ1B c.1340C>T p.T447M Substitution - Missense Prostate COSM894492 TTF2 c.2255C>A p.A752D Substitution - Missense Endometrium COSM5765008 HELLS c.537G>A p.S179S Substitution - coding silent Large_intestine COSM1614495 SP140_ENST00000392045 c.1919G>A p.W640* Substitution - Nonsense Liver COSM1220354 PHF2 c.386T>C p.V129A Substitution - Missense Large_intestine COSM3375269 KDM4C c.905G>A p.G302E Substitution - Missense Thyroid COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM286622 ZBTB38 c.2027C>A p.S676Y Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM937162 EP400 c.4247G>A p.R1416Q Substitution - Missense Endometrium COSM144626 PHF6 c.955C>T p.R319* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1662789 KMT2C c.8237A>G p.D2746G Substitution - Missense Kidney COSM3827921 PRDM9 c.2677G>C p.D893H Substitution - Missense Breast COSM3900881 CHD7 c.7222G>A p.E2408K Substitution - Missense Stomach COSM3865454 ZMYM4 c.415C>T p.P139S Substitution - Missense Skin COSM1348972 SFMBT2 c.391G>A p.V131M Substitution - Missense Large_intestine COSM5689109 GTF3C1 c.5327G>A p.R1776H Substitution - Missense Soft_tissue COSM133023 ARID1A c.5012_5012delG p.V1672fs*1 Deletion - Frameshift Central_nervous_system COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5900441 ZMYM3 c.1160C>T p.S387F Substitution - Missense Skin COSM5820813 BAZ2A c.340A>T p.S114C Substitution - Missense Liver COSM1168634 PRDM2 c.5010C>T p.S1670S Substitution - coding silent Pancreas COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM97858 PRDM11 c.1460C>T p.S487L Substitution - Missense Upper_aerodigestive_tract COSM3732002 RBBP5 c.931G>T p.A311S Substitution - Missense Stomach COSM3396639 KDM1B c.263G>T p.G88V Substitution - Missense Prostate COSM3756294 SMARCA4 c.4584C>T p.D1528D Substitution - coding silent Soft_tissue COSM3668468 ADNP c.1401A>T p.K467N Substitution - Missense Liver COSM447199 INTS12 c.507G>A p.M169I Substitution - Missense Breast COSM3427481 KAT2B c.2035G>A p.A679T Substitution - Missense Stomach COSM260093 CHD7 c.1882G>T p.E628* Substitution - Nonsense Large_intestine COSM4701741 MEN1 c.1510C>A p.L504M Substitution - Missense Large_intestine COSM1686328 BRWD3 c.754C>T p.R252* Substitution - Nonsense Skin COSM1699627 KMT2C c.5396C>T p.S1799L Substitution - Missense Skin COSM4491575 MGA c.3828C>T p.N1276N Substitution - coding silent Skin COSM1051858 PRMT10 c.790G>T p.E264* Substitution - Nonsense Endometrium COSM4416984 DOT1L c.3391-5C>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM251380 ARID1A c.3281_3282insA p.Q1095fs*10 Insertion - Frameshift Liver COSM5880739 POGZ c.2924T>G p.V975G Substitution - Missense Soft_tissue COSM1496384 CDYL c.859T>C p.S287P Substitution - Missense Kidney COSM5367953 CARM1 c.597_598insT p.A202fs*22 Insertion - Frameshift Large_intestine COSM913232 BRDT c.1038G>A p.M346I Substitution - Missense Endometrium COSM1259131 NIPBL c.6893G>A p.R2298H Substitution - Missense Oesophagus COSM919999 SFMBT2 c.2667C>T p.Y889Y Substitution - coding silent Oesophagus COSM1251235 EP400 c.183G>T p.L61L Substitution - coding silent Stomach COSM1753989 BRD8 c.671C>T p.S224F Substitution - Missense Upper_aerodigestive_tract COSM1604169 KMT2A c.7094T>C p.L2365P Substitution - Missense Liver COSM3922301 ACTL6B c.923C>T p.P308L Substitution - Missense Skin COSM97190 TET2 c.2079_2079delA p.K693fs*7 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM294700 PHF8 c.620C>T p.P207L Substitution - Missense Large_intestine COSM454819 EYA1 c.624T>C p.F208F Substitution - coding silent Breast COSM697769 MTA1 c.883C>A p.L295I Substitution - Missense Lung COSM3703457 TDRD7 c.2285T>C p.I762T Substitution - Missense Liver COSM263647 SHPRH c.3794C>T p.T1265I Substitution - Missense Large_intestine COSM76527 SMARCD1 c.1351G>A p.A451T Substitution - Missense Ovary COSM4735446 TP53BP1 c.3667G>T p.E1223* Substitution - Nonsense Large_intestine COSM5919503 CHD7 c.6080G>A p.R2027Q Substitution - Missense Upper_aerodigestive_tract COSM5404069 CHD1 c.4574C>T p.P1525L Substitution - Missense Skin COSM1409844 KDM3A c.2848C>T p.R950C Substitution - Missense Large_intestine COSM3637067 HDAC9 c.2126C>T p.P709L Substitution - Missense Skin COSM163444 PHF20 c.488G>T p.R163L Substitution - Missense Breast COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4623095 INOC1 c.4341C>T p.G1447G Substitution - coding silent Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3523585 BAHCC1 c.1877C>T p.P626L Substitution - Missense Skin COSM4004435 STK31 c.1229G>A p.G410E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4725917 SHPRH c.646C>G p.L216V Substitution - Missense Large_intestine COSM5791122 CHD7 c.6173T>G p.I2058S Substitution - Missense Breast COSM1436891 PRDM9 c.2095C>T p.R699W Substitution - Missense Large_intestine COSM972467 CTCF c.334G>T p.E112* Substitution - Nonsense Endometrium COSM3174039 EYA4 c.4G>A p.E2K Substitution - Missense Skin COSM1583083 DNMT3A c.1840G>A p.D614N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5388040 ASXL3 c.862G>A p.G288S Substitution - Missense Skin COSM4167244 TET2 c.? p.L541* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1166667 TET2 c.4639C>T p.Q1547* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1185396 RBBP4 c.317G>C p.G106A Substitution - Missense Lung COSM5564331 TET2 c.3784C>T p.R1262W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4681125 EP400 c.5249G>A p.R1750H Substitution - Missense Large_intestine COSM3751640 PWWP2B c.265C>T p.R89C Substitution - Missense Thyroid COSM88743 CREBBP c.4507T>G p.Y1503D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4935094 MGA c.1594A>T p.K532* Substitution - Nonsense Liver COSM51200 ASXL1 c.1888_1910del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3749716 NCOA3 c.3753G>A p.Q1251Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4801124 KAT6B c.5830T>A p.Y1944N Substitution - Missense Liver COSM1683746 ZMYM1 c.2855_2857delATA p.N952delN Deletion - In frame Breast COSM4385440 ATRX c.254T>C p.I85T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5888172 KMT2D c.12166C>T p.P4056S Substitution - Missense Upper_aerodigestive_tract COSM5417077 MGA c.3757C>T p.Q1253* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM446842 PBRM1 c.1758G>A p.M586I Substitution - Missense Breast COSM1484585 MBD4 c.58G>A p.V20I Substitution - Missense Breast COSM5606937 POGZ c.1417T>A p.Y473N Substitution - Missense Skin COSM1969489 BTAF1 c.3537T>C p.G1179G Substitution - coding silent Large_intestine COSM42018 TET2 c.3501-1G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3625670 RING1 c.792C>T p.L264L Substitution - coding silent Skin COSM2738964 NCOR1 c.5609C>A p.T1870N Substitution - Missense Upper_aerodigestive_tract COSM707389 PHF23 c.354T>C p.R118R Substitution - coding silent Lung COSM4121657 PRDM5 c.485G>C p.G162A Substitution - Missense Stomach COSM4459105 ATXN7 c.1111C>T p.Q371* Substitution - Nonsense Skin COSM4050623 BAZ1A c.2546A>G p.Q849R Substitution - Missense Stomach COSM4807223 TCF20 c.3996C>T p.T1332T Substitution - coding silent Pancreas COSM726946 TCF20 c.3614G>A p.G1205E Substitution - Missense Lung COSM5684675 TRIM28 c.100A>C p.T34P Substitution - Missense Soft_tissue COSM5374494 SETD8 c.359G>A p.R120K Substitution - Missense Skin COSM343247 SMARCA4 c.1195A>T p.K399* Substitution - Nonsense Lung COSM303448 TRIM33 c.1389C>A p.P463P Substitution - coding silent Central_nervous_system COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3546356 CHD6 c.6985C>T p.P2329S Substitution - Missense Skin COSM1680633 DNMT1 c.4801C>T p.R1601* Substitution - Nonsense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM913233 BRDT c.1108G>A p.E370K Substitution - Missense Stomach COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4042387 KMT2D c.5655G>A p.S1885S Substitution - coding silent Stomach COSM1420484 MECOM c.1491_1492insA p.V498fs*27 Insertion - Frameshift Large_intestine COSM4518623 BRPF1 c.720_721CC>TT p.P241S Substitution - Missense Skin COSM1192805 NCOA7 c.202delA p.K70fs*7 Deletion - Frameshift Oesophagus COSM4573884 BTAF1 c.4972G>A p.D1658N Substitution - Missense Bone COSM3663041 KMT2C c.2598G>T p.R866R Substitution - coding silent Liver COSM4747822 KDM2B c.1520delA p.K507fs*66 Deletion - Frameshift Large_intestine COSM1267585 TDRD6 c.3128A>C p.K1043T Substitution - Missense Oesophagus COSM907707 ARID1A c.3219G>A p.W1073* Substitution - Nonsense Endometrium COSM961361 INOC1 c.2040C>T p.T680T Substitution - coding silent Liver COSM5442808 ATF7IP c.2941+1G>C p.? Unknown Oesophagus COSM2210731 ASH1L c.2752A>C p.S918R Substitution - Missense Large_intestine COSM1061371 KDM3B c.4828C>A p.P1610T Substitution - Missense Endometrium COSM5347086 ARID1A c.5213A>G p.D1738G Substitution - Missense Endometrium COSM4780050 ATAD2 c.1594G>T p.E532* Substitution - Nonsense Liver COSM30576 SMARCA4 c.1208A>G p.E403G Substitution - Missense Ovary COSM3662384 BAG6 c.2871T>G p.A957A Substitution - coding silent Liver COSM1488340 EZH2 c.555C>T p.D185D Substitution - coding silent Stomach COSM280552 DNMT1 c.3710C>T p.S1237L Substitution - Missense Large_intestine COSM3389805 EYA2 c.298+1G>C p.? Unknown Pancreas COSM3664047 PHF19 c.249A>G p.L83L Substitution - coding silent Liver COSM4792484 TTF2 c.2148C>T p.N716N Substitution - coding silent Liver COSM5405453 TDRD6 c.4623G>A p.T1541T Substitution - coding silent Skin COSM5347220 ARID1A c.?_?ins? p.Q2188fs*? Insertion - Frameshift Endometrium COSM5558780 PHC3 c.439C>G p.L147V Substitution - Missense Prostate COSM4931518 KMT2D c.14896A>C p.N4966H Substitution - Missense Liver COSM2269473 BAHD1 c.1284C>T p.F428F Substitution - coding silent Oesophagus COSM3608984 KDM3B c.3631C>T p.P1211S Substitution - Missense Skin COSM1621583 BRPF3 c.2319G>T p.R773R Substitution - coding silent Liver COSM222041 SMARCA5 c.496A>G p.T166A Substitution - Missense Skin COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM3926626 SMARCA2 c.4256C>T p.S1419L Substitution - Missense Skin COSM4064375 RAI1 c.5660G>A p.G1887D Substitution - Missense Stomach COSM3698628 TRRAP c.6136G>A p.A2046T Substitution - Missense Large_intestine COSM1604165 KMT2A c.4131G>A p.L1377L Substitution - coding silent Liver COSM5370944 JMJD1C c.5418C>T p.D1806D Substitution - coding silent Skin COSM5047989 PBRM1 c.1738T>C p.Y580H Substitution - Missense Oesophagus COSM343573 RERE c.4456G>A p.E1486K Substitution - Missense Lung COSM255213 MEN1 c.1621A>G p.T541A Substitution - Missense Soft_tissue COSM231560 DNMT3A c.2206C>T p.R736C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1288089 SMARCA4 c.3553C>A p.Q1185K Substitution - Missense Autonomic_ganglia COSM4114060 ZBTB38 c.3096C>T p.H1032H Substitution - coding silent Stomach COSM3784383 PHC3 c.1849+10T>C p.? Unknown Pancreas COSM53134 TET2 c.? p.S716* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3821677 L3MBTL4 c.198A>C p.A66A Substitution - coding silent Breast COSM4949888 ARID1A c.128_129insGGC p.A45_E46insA Insertion - In frame Liver COSM366420 ZCWPW2 c.179G>A p.C60Y Substitution - Missense Lung COSM5696474 AKAP1 c.1754G>C p.C585S Substitution - Missense Soft_tissue COSM4000435 L3MBTL4 c.1471+10A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM2007430 KMT2D c.1010C>T p.S337L Substitution - Missense Large_intestine COSM5985272 KMT2C c.5259T>G p.F1753L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4398567 ZCWPW1 c.800G>A p.W267* Substitution - Nonsense Skin COSM5648768 DIDO1 c.1759C>T p.P587S Substitution - Missense Oesophagus COSM1051182 PHF17 c.1572A>C p.E524D Substitution - Missense Endometrium COSM4902918 TDRD5 c.1509G>A p.M503I Substitution - Missense Skin COSM4814491 CHD4 c.3717A>G p.K1239K Substitution - coding silent Breast COSM5347137 ARID1A c.3068G>A p.W1023* Substitution - Nonsense Endometrium COSM345422 ZBTB38 c.555G>C p.L185F Substitution - Missense Urinary_tract COSM478163 CHD6 c.7481G>A p.G2494E Substitution - Missense Kidney COSM203096 ATAD2 c.354delA p.E119fs*8 Deletion - Frameshift Stomach COSM3294758 EYA2 c.153C>T p.S51S Substitution - coding silent Skin COSM1334660 ASH1L c.3665delA p.K1222fs*11 Deletion - Frameshift Stomach COSM53279 TET2 c.5449C>A p.H1817N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3634198 JHDM1D c.1404T>C p.L468L Substitution - coding silent Skin COSM2911501 NCOA1 c.4164A>G p.Q1388Q Substitution - coding silent Upper_aerodigestive_tract COSM927030 PRDM11 c.1348C>T p.R450C Substitution - Missense Skin COSM3633852 TIF1 c.1378C>T p.P460S Substitution - Missense Skin COSM2968179 SMC1A c.1880G>A p.R627H Substitution - Missense Large_intestine COSM5016543 CHD3 c.1949_1955delTAGTAAA p.L650fs*17 Deletion - Frameshift Kidney COSM5003816 KDM6A c.550G>T p.E184* Substitution - Nonsense Pancreas COSM226619 KMT2C c.857C>A p.A286E Substitution - Missense Soft_tissue COSM4516380 PRDM2 c.1855_1856CC>TT p.P619F Substitution - Missense Skin COSM1692142 SP110 c.94C>T p.P32S Substitution - Missense Skin COSM2098451 CHD4 c.3533C>T p.A1178V Substitution - Missense Large_intestine COSM4777220 ARID1B c.6524A>G p.D2175G Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM737606 NSD1 c.2919G>C p.Q973H Substitution - Missense Lung COSM1009 SMARCB1 c.897G>A p.S299S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1483160 SMEK2 c.1511G>A p.G504D Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4552933 PHF20L1 c.497G>A p.R166Q Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5397061 CAMKMT c.384G>A p.W128* Substitution - Nonsense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4477225 CTCF c.2135C>T p.P712L Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM383103 SMARCC2 c.880G>T p.G294* Substitution - Nonsense Lung COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5346770 ARID2 c.596T>C p.I199T Substitution - Missense Urinary_tract COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM310890 EP400 c.5789delT p.C1932fs*13 Deletion - Frameshift Soft_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1618134 SETD5_ENST00000402198 c.417G>A p.W139* Substitution - Nonsense Liver COSM3555534 BRD1 c.2532C>T p.A844A Substitution - coding silent Skin COSM1936430 BAZ2A_ENST00000379441 c.5663G>A p.R1888H Substitution - Missense Large_intestine COSM164843 TDRD6 c.2078C>G p.T693R Substitution - Missense Breast COSM1093719 TRRAP c.10365T>A p.F3455L Substitution - Missense Endometrium COSM4023044 ASH1L c.6154C>A p.L2052I Substitution - Missense Stomach COSM343994 PRDM11 c.742G>T p.D248Y Substitution - Missense Lung COSM3905431 BRD3 c.794C>T p.P265L Substitution - Missense Upper_aerodigestive_tract COSM4168446 PHF3 c.3963A>T p.K1321N Substitution - Missense Peritoneum COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1334670 ASH1L c.123A>C p.K41N Substitution - Missense Large_intestine COSM5622663 SHPRH c.4789A>G p.I1597V Substitution - Missense Oesophagus COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM43422 TET2 c.3309_3310delTT p.F1104fs*25 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM300111 RBBP7 c.1019G>A p.R340H Substitution - Missense Large_intestine COSM3656485 SMARCA2 c.472C>T p.P158S Substitution - Missense Skin COSM5360335 TDRD1 c.814G>A p.E272K Substitution - Missense Large_intestine COSM75604 NIPBL c.5752A>G p.T1918A Substitution - Missense Ovary COSM150036 CDYL c.4A>G p.T2A Substitution - Missense Stomach COSM1724609 PHF8 c.2383_2385delGAG p.E795delE Deletion - In frame Skin COSM132968 ASXL1 c.? p.E635fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM749918 ELP3 c.831C>T p.S277S Substitution - coding silent Skin COSM1341428 ARID1A c.6043A>T p.I2015F Substitution - Missense Large_intestine COSM391248 CHD2 c.3724_3725insA p.Y1246fs*13 Insertion - Frameshift Lung COSM1071057 BRD9 c.1035C>T p.D345D Substitution - coding silent Breast COSM5481090 YEATS4 c.333T>C p.P111P Substitution - coding silent Large_intestine COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13367 TAF1L c.4645C>T p.H1549Y Substitution - Missense Central_nervous_system COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43442 TET2 c.5104C>T p.Q1702* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM43522 TET2 c.3404_3405insG p.C1135fs*7 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41875 IDH2 c.419G>T p.R140L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM100077 TET2 c.1441C>T p.Q481* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM109403 CREBBP c.758A>T p.H253L Substitution - Missense Skin COSM116351 SMYD4 c.2390C>A p.P797H Substitution - Missense Large_intestine COSM112087 TDG c.286_287insA p.I98fs*6 Insertion - Frameshift Upper_aerodigestive_tract COSM96442 EP300 c.4401_4402insA p.M1470fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM128635 LBR c.650_651delTC p.L217fs*17 Deletion - Frameshift Upper_aerodigestive_tract COSM137793 RNF2 c.242G>A p.R81K Substitution - Missense Skin COSM221064 KMT2D c.14479C>T p.R4827* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM164051 RNF17 c.1011C>T p.Y337Y Substitution - coding silent Breast COSM184080 CBX3 c.458C>T p.A153V Substitution - Missense Large_intestine COSM212842 KMT2A c.2348C>A p.S783Y Substitution - Missense Breast COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Skin COSM255069 KDM6A c.3144_3144+3delAGTA p.? Unknown Urinary_tract COSM251369 ARID2 c.1507_1508insAG p.A503fs*4 Insertion - Frameshift Liver COSM251401 ARID1A c.1210C>T p.Q404* Substitution - Nonsense Stomach COSM258157 TDRD6 c.1102C>T p.R368* Substitution - Nonsense Large_intestine COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Large_intestine COSM318882 BAHD1 c.1003T>A p.S335T Substitution - Missense Lung COSM324991 CHD6 c.7942G>A p.V2648I Substitution - Missense Lung COSM355064 SETD1A c.2690G>A p.R897Q Substitution - Missense Lung COSM349295 PHF12 c.1406T>A p.V469D Substitution - Missense Lung COSM381207 DHX30 c.1944C>T p.C648C Substitution - coding silent Large_intestine COSM1497258 SMC1A c.1167G>A p.L389L Substitution - coding silent Kidney COSM435119 SRCAP c.1183C>T p.H395Y Substitution - Missense Breast COSM452652 SMARCD3 c.932A>G p.E311G Substitution - Missense Breast COSM478244 NCOA3 c.774A>T p.R258S Substitution - Missense Kidney COSM985853 BAHCC1 c.3948G>A p.Q1316Q Substitution - coding silent Endometrium COSM480459 PBRM1 c.139-2A>G p.? Unknown Kidney COSM679182 ACTA1 c.63C>G p.A21A Substitution - coding silent Lung COSM707756 KDM6B c.1196G>C p.S399T Substitution - Missense Thyroid COSM697492 PRMT5 c.1006C>T p.Q336* Substitution - Nonsense Lung COSM910659 ORC1 c.522G>A p.A174A Substitution - coding silent Endometrium COSM1007217 MBD5 c.1081C>T p.L361F Substitution - Missense Endometrium COSM1034759 TCF20 c.4369G>A p.G1457R Substitution - Missense Endometrium COSM1125487 ATRX c.2441C>A p.S814Y Substitution - Missense Endometrium COSM1109559 KDM4C c.173G>T p.R58I Substitution - Missense Endometrium COSM1081852 PHIP c.3754G>A p.V1252M Substitution - Missense Endometrium COSM1228826 TDRD10 c.623C>T p.P208L Substitution - Missense Large_intestine COSM1190260 CHD6 c.6191T>A p.I2064N Substitution - Missense Lung COSM1304231 GATAD2A c.1335C>A p.L445L Substitution - coding silent Urinary_tract COSM1437262 NIPBL c.1801delA p.K603fs*11 Deletion - Frameshift Large_intestine COSM1448359 TRIM24 c.1171C>T p.R391C Substitution - Missense Skin COSM1442320 PHF10 c.1184delC p.P395fs*>16 Deletion - Frameshift Skin COSM1365697 MPHOSPH8 c.1370delA p.N459fs*20 Deletion - Frameshift Large_intestine COSM1349123 KAT6B c.3208_3210delGAA p.E1076delE Deletion - In frame Breast COSM1679017 SRCAP c.2304G>T p.Q768H Substitution - Missense Large_intestine COSM1668513 LBR c.1130G>A p.R377Q Substitution - Missense Large_intestine COSM1669316 BAZ2B c.4594G>T p.G1532C Substitution - Missense Prostate COSM1711632 KDM4B c.2201C>T p.T734I Substitution - Missense Skin COSM1736930 IDH2 c.484C>T p.P162S Substitution - Missense Central_nervous_system COSM1742098 KDM1A c.982G>A p.E328K Substitution - Missense Urinary_tract COSM1731937 ARID1B c.165_166insCAG p.Q73_H74insQ Insertion - In frame Haematopoietic_and_lymphoid_tissue COSM1746469 DPF2 c.902C>G p.S301* Substitution - Nonsense Urinary_tract COSM1739287 TDRD6 c.4855G>C p.A1619P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1738457 PRDM16 c.1889A>G p.D630G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1740615 NCOA6 c.458T>G p.M153R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2019080 RSF1 c.768G>T p.E256D Substitution - Missense Large_intestine COSM2066862 KDM5A c.1835C>T p.S612L Substitution - Missense Skin COSM2739021 NCOR1 c.2833C>T p.P945S Substitution - Missense Skin COSM2813591 SMARCA4 c.2057_2059delAGA p.K689delK Deletion - In frame Large_intestine COSM2828731 SETD5_ENST00000402198 c.267A>T p.V89V Substitution - coding silent Upper_aerodigestive_tract COSM2911825 DNMT3A c.862C>T p.R288W Substitution - Missense Large_intestine COSM3113566 SETD1A c.3601C>T p.R1201W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3148794 DNMT1 c.2211C>T p.A737A Substitution - coding silent Large_intestine COSM3296115 MBD5 c.882G>A p.R294R Substitution - coding silent Upper_aerodigestive_tract COSM3355892 VPS72 c.118-5C>T p.? Unknown Breast COSM3360519 TDRD5 c.15G>T p.E5D Substitution - Missense Kidney COSM3379810 BAZ2B c.949A>G p.T317A Substitution - Missense Pancreas COSM3376328 MBD6 c.2446G>A p.E816K Substitution - Missense Pancreas COSM3444005 KMT2A c.8819C>T p.T2940I Substitution - Missense Skin COSM3436547 BMI1 c.133C>T p.R45C Substitution - Missense Skin COSM3424218 TCF20 c.954G>A p.P318P Substitution - coding silent Large_intestine COSM3453561 RSF1 c.583C>T p.R195* Substitution - Nonsense Skin COSM3472827 PRDM2 c.2954C>T p.P985L Substitution - Missense Stomach COSM3545299 DNMT3B c.475C>T p.P159S Substitution - Missense Skin COSM3670038 KDM4C c.1423A>G p.R475G Substitution - Missense Liver COSM3763885 TAF1L c.1111A>G p.M371V Substitution - Missense Large_intestine COSM3800609 KDM6A c.4012G>T p.V1338F Substitution - Missense Urinary_tract COSM3800609 KDM6A c.4012G>T p.V1338F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3932821 SMCHD1 c.1013C>T p.A338V Substitution - Missense Urinary_tract COSM3939300 ASXL1 c.2302C>G p.Q768E Substitution - Missense Oesophagus COSM3846307 HDAC11 c.569G>A p.R190Q Substitution - Missense Breast COSM4021104 TTF2 c.490G>A p.D164N Substitution - Missense Stomach COSM4054573 MGA c.6290C>T p.S2097F Substitution - Missense Stomach COSM4035918 KDM2A c.2707C>T p.R903C Substitution - Missense Stomach COSM4040551 ATF7IP c.3647T>C p.I1216T Substitution - Missense Stomach COSM3993000 KAT2B c.1301C>G p.S434C Substitution - Missense Kidney COSM4070283 KDM6B c.1077C>T p.D359D Substitution - coding silent Stomach COSM4131182 CARM1 c.1742A>T p.N581I Substitution - Missense Thyroid COSM4140995 NCOA1 c.865G>A p.E289K Substitution - Missense Ovary COSM4155813 NIPBL c.5591T>G p.V1864G Substitution - Missense Kidney COSM4160842 BAG6 c.1569C>T p.A523A Substitution - coding silent Thyroid COSM4161255 TDRD6 c.599T>G p.V200G Substitution - Missense Upper_aerodigestive_tract COSM4385606 TET2 c.4760_4761insT p.I1588fs*26 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4383540 DNMT3A c.2193_2195delCTT p.F732delF Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM4391193 ZCWPW1 c.1002G>A p.M334I Substitution - Missense Breast COSM4419702 NSD1 c.1482C>T p.C494C Substitution - coding silent Soft_tissue COSM4501230 JMJD1C c.5182C>T p.P1728S Substitution - Missense Skin COSM4576630 TDRD5 c.2204T>C p.I735T Substitution - Missense Bone COSM4461656 KMT2D c.11348C>T p.T3783I Substitution - Missense Skin COSM4480380 JHDM1D c.2414C>G p.S805C Substitution - Missense Skin COSM4770177 PBRM1 c.4576+5_4576+6insGAG p.? Unknown Biliary_tract COSM4666140 BRDT c.2024A>G p.E675G Substitution - Missense Large_intestine COSM4674146 BMI1 c.935C>A p.P312H Substitution - Missense Large_intestine COSM4677525 DIDO1 c.732G>A p.Q244Q Substitution - coding silent Large_intestine COSM4793720 TAF1L c.5209C>T p.P1737S Substitution - Missense Liver COSM4881353 MYST3 c.2999G>T p.S1000I Substitution - Missense Upper_aerodigestive_tract COSM4844893 SMARCA2 c.3783G>C p.R1261R Substitution - coding silent Cervix COSM4817207 ZBTB4 c.2226G>T p.R742R Substitution - coding silent Cervix COSM5001106 PRMT10 c.1837G>A p.D613N Substitution - Missense Pancreas COSM4981122 TIF1 c.1082A>G p.H361R Substitution - Missense Oesophagus COSM5416076 BAZ2B c.5354A>T p.N1785I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5469048 ARID1B c.2158+5G>A p.? Unknown Large_intestine COSM5433772 NCOA5 c.83G>A p.R28Q Substitution - Missense Oesophagus COSM5752038 EED c.1306C>T p.R436C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5761986 PWWP2B c.929C>T p.S310L Substitution - Missense Pancreas COSM5652009 SRCAP c.7361_7372del12 p.A2456_P2459delALVP Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM5716913 POGZ c.3153C>T p.F1051F Substitution - coding silent Skin COSM5737099 PHF17 c.1313G>T p.R438M Substitution - Missense Small_intestine COSM5719265 KDM4A c.683C>T p.P228L Substitution - Missense Skin COSM5723194 AIRE c.1038G>A p.Q346Q Substitution - coding silent Skin COSM5621807 SETD5_ENST00000402198 c.2842C>T p.P948S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5706500 BPTF c.3842G>A p.C1281Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5762966 TET2 c.5501_5514del14 p.Q1834fs*7 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5564859 NIPBL c.5782A>G p.R1928G Substitution - Missense Prostate COSM5782366 ZGPAT c.713T>G p.I238S Substitution - Missense Breast COSM5790427 SETMAR c.1973C>T p.T658M Substitution - Missense Upper_aerodigestive_tract COSM5789359 MYST3 c.2278C>T p.L760F Substitution - Missense Breast COSM5977649 PRDM1 c.23C>T p.A8V Substitution - Missense Central_nervous_system COSM5945457 EP300 c.3488G>A p.C1163Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5957888 HDAC4 c.757C>T p.R253W Substitution - Missense Thyroid COSM5973369 MBD5 c.103C>T p.L35F Substitution - Missense Upper_aerodigestive_tract COSM6004560 ASXL1 c.2151G>T p.R717S Substitution - Missense Prostate COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM43409 TET2 c.? p.?fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM52831 PBRM1 c.1802_1805>TA p.N601fs*8 Complex - frameshift Kidney COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1685350 EZH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41709 TET2 c.4317_4318insA p.R1440fs*38 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41709 TET2 c.4317_4318insA p.R1440fs*38 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM53133 TET2 c.? p.Q888* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41744 TET2 c.2449T>A p.S817T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5878551 ARID1A c.1_6858del6858 p.0? Whole gene deletion Liver COSM170985 PHF20 c.1271C>T p.S424L Substitution - Missense Breast COSM379271 DIDO1 c.188G>A p.R63H Substitution - Missense Lung COSM4634813 PHF21B c.1539C>A p.T513T Substitution - coding silent Large_intestine COSM329085 TET2 c.4513G>A p.A1505T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM88733 CREBBP c.3237G>T p.Q1079H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM268528 TP53BP1 c.5197G>A p.A1733T Substitution - Missense Upper_aerodigestive_tract COSM3879610 KMT2C c.816C>T p.N272N Substitution - coding silent Stomach COSM4128570 IDH2 c.996C>T p.S332S Substitution - coding silent Thyroid COSM253005 HNF1A c.1131delC p.P379fs*5 Deletion - Frameshift Ovary COSM5012237 TDRD1 c.485G>C p.G162A Substitution - Missense Kidney COSM4791353 NCOA1 c.597G>A p.M199I Substitution - Missense Liver COSM1936499 BAZ2A_ENST00000379441 c.3578G>A p.R1193Q Substitution - Missense Large_intestine COSM5191491 EHMT2 c.3569C>T p.A1190V Substitution - Missense Large_intestine COSM144588 DNMT3A c.? p.S714C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1714702 SCML2 c.1714G>A p.D572N Substitution - Missense Skin COSM427631 ERCC6 c.4139C>T p.S1380L Substitution - Missense Breast COSM4802791 KDM4D c.179G>T p.R60I Substitution - Missense Liver COSM328165 PRDM9 c.504A>T p.K168N Substitution - Missense Pancreas COSM4749941 SMARCA4 c.3306C>A p.F1102L Substitution - Missense Stomach COSM436100 NCOR1 c.435+2T>C p.? Unknown Stomach COSM265253 ARID2 c.854G>A p.R285Q Substitution - Missense Large_intestine COSM4092273 SP100 c.566C>T p.S189L Substitution - Missense Cervix COSM4805249 TRRAP c.4780A>G p.I1594V Substitution - Missense Liver COSM1128636 ATF7IP c.1589A>G p.K530R Substitution - Missense Prostate COSM3525861 SETBP1 c.2087C>T p.P696L Substitution - Missense Skin COSM3838802 SP140_ENST00000392045 c.22G>C p.G8R Substitution - Missense Breast COSM41644 TET2 c.1648C>T p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM164053 RNF17 c.844C>T p.L282L Substitution - coding silent Breast COSM3509895 GLYR1 c.655C>T p.H219Y Substitution - Missense Skin COSM4590120 KDM4B c.2128A>G p.K710E Substitution - Missense Upper_aerodigestive_tract COSM249685 NCOR1 c.448G>A p.G150R Substitution - Missense Upper_aerodigestive_tract COSM356944 ASXL1 c.1763A>G p.Q588R Substitution - Missense Lung COSM3371660 NCOA6 c.1728G>A p.P576P Substitution - coding silent Thyroid COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1755725 MYST3 c.5121G>A p.M1707I Substitution - Missense Urinary_tract COSM1722309 MYST3 c.5079A>C p.P1693P Substitution - coding silent Central_nervous_system COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM3758729 DIDO1 c.4702A>G p.T1568A Substitution - Missense Large_intestine COSM211632 TET2 c.5609C>T p.S1870L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3528449 SMARCA4 c.4511C>T p.P1504L Substitution - Missense Skin COSM2738961 NCOR1 c.5764A>C p.R1922R Substitution - coding silent Upper_aerodigestive_tract COSM1368977 CHD8 c.7112delA p.N2371fs*6 Deletion - Frameshift Large_intestine COSM5990632 ARID1A c.392G>A p.G131E Substitution - Missense Liver COSM5112229 KMT2D c.10369C>T p.R3457C Substitution - Missense Biliary_tract COSM3957485 SETD1A c.2289A>T p.S763S Substitution - coding silent Lung COSM221796 TDG c.602A>C p.K201T Substitution - Missense Kidney COSM1307402 CHD6 c.5728G>C p.D1910H Substitution - Missense Urinary_tract COSM3690702 GTF3C1 c.2518G>T p.G840C Substitution - Missense Large_intestine COSM3604099 GABRG1 c.421G>A p.G141R Substitution - Missense Skin COSM5490620 PBRM1 c.3785A>G p.N1262S Substitution - Missense Biliary_tract COSM1072318 HDAC2 c.744G>A p.K248K Substitution - coding silent Endometrium COSM110706 ASXL1 c.1969G>T p.E657* Substitution - Nonsense Central_nervous_system COSM1015582 IDH1 c.210C>T p.G70G Substitution - coding silent Large_intestine COSM300091 MYST3 c.2452T>C p.S818P Substitution - Missense Large_intestine COSM4788394 PHF21A c.1852C>A p.P618T Substitution - Missense Liver COSM2759375 PHF20 c.2533C>T p.R845C Substitution - Missense Stomach COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1065869 DUSP1 c.945G>A p.P315P Substitution - coding silent Endometrium COSM4463724 NCOA6 c.1302C>T p.S434S Substitution - coding silent Skin COSM5891164 DNMT3B c.607C>T p.P203S Substitution - Missense Skin COSM3785807 TRRAP c.2940C>G p.N980K Substitution - Missense Pancreas COSM4037736 KDM4D c.994C>G p.R332G Substitution - Missense Stomach COSM5960030 PRMT6 c.15C>T p.R5R Substitution - coding silent Thyroid COSM1124900 TAF1 c.3348G>T p.Q1116H Substitution - Missense Endometrium COSM4510456 SETD1A c.837C>T p.T279T Substitution - coding silent Skin COSM2270978 ASXL1 c.2922C>G p.Y974* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1577289 ASXL1 c.? p.?fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM4022247 POGZ c.1374C>T p.G458G Substitution - coding silent Stomach COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1241924 ZMYM4 c.3275G>A p.G1092D Substitution - Missense Oesophagus COSM1744426 SMYD2 c.337C>T p.L113L Substitution - coding silent Biliary_tract COSM1388493 ASXL3 c.54C>A p.F18L Substitution - Missense Large_intestine COSM1642928 ARID1B c.3169C>T p.R1057* Substitution - Nonsense Skin COSM5747401 SMARCD1 c.1294G>A p.G432S Substitution - Missense Pancreas COSM6003893 TRIM28 c.2205T>C p.G735G Substitution - coding silent Prostate COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3604089 GABRG1 c.800G>A p.S267N Substitution - Missense Skin COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5969387 ZMYM6 c.1955G>C p.G652A Substitution - Missense Upper_aerodigestive_tract COSM1682718 TAF1 c.10G>A p.G4S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4041981 ARID2 c.535G>A p.V179I Substitution - Missense Stomach COSM3996473 EHMT1 c.3281G>A p.R1094K Substitution - Missense Kidney COSM212551 PHF17 c.1444C>G p.Q482E Substitution - Missense Breast COSM4131185 SMARCA4 c.1524T>C p.H508H Substitution - coding silent Soft_tissue COSM2801193 PHF12 c.1572T>G p.S524S Substitution - coding silent Large_intestine COSM1330671 GTF3C4 c.1999G>A p.E667K Substitution - Missense Ovary COSM53269 TET2 c.4705_4706delTA p.Y1569fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5048889 KMT2C c.3345G>C p.Q1115H Substitution - Missense Oesophagus COSM3939312 NCOA6 c.635C>T p.S212F Substitution - Missense Oesophagus COSM1250053 DHX30 c.2565C>T p.L855L Substitution - coding silent Oesophagus COSM1227875 STK31 c.2183G>A p.R728Q Substitution - Missense Large_intestine COSM5823403 NCOA1 c.3220C>T p.Q1074* Substitution - Nonsense Liver COSM476076 BAZ2B c.5150G>T p.G1717V Substitution - Missense Kidney COSM5819740 YY1 c.56A>C p.E19A Substitution - Missense Liver COSM700503 TP53BP1 c.4027G>T p.G1343W Substitution - Missense Lung COSM1583403 SETDB1 c.1493C>A p.S498Y Substitution - Missense Breast COSM4085348 MBD5 c.3383C>T p.A1128V Substitution - Missense Stomach COSM4672019 CHD4 c.1622G>A p.R541Q Substitution - Missense Large_intestine COSM4487149 BRD1 c.3149C>T p.P1050L Substitution - Missense Skin COSM4767402 ATRX c.5788A>G p.K1930E Substitution - Missense Adrenal_gland COSM5005284 KMT2D c.3653G>A p.W1218* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5708587 TBL1XR1 c.919C>T p.H307Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1183886 ATF7IP c.137G>A p.G46D Substitution - Missense Large_intestine COSM5006100 TRIM24 c.507_508insA p.A170fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3730491 PRDM12 c.60G>A p.P20P Substitution - coding silent Stomach COSM1637879 INTS12 c.832T>A p.S278T Substitution - Missense Bone COSM3253973 MLL5 c.3904C>G p.H1302D Substitution - Missense Upper_aerodigestive_tract COSM5759009 ASH1L c.3407T>C p.L1136S Substitution - Missense Bone COSM1721289 KMT2C c.14344-3delT p.? Unknown Skin COSM326136 PHF12 c.376G>T p.G126C Substitution - Missense Lung COSM1587021 ZMYM2 c.2221G>T p.E741* Substitution - Nonsense Endometrium COSM3800373 ZBTB33 c.435G>A p.K145K Substitution - coding silent Urinary_tract COSM3817111 CHD2 c.4578C>T p.I1526I Substitution - coding silent Breast COSM4399350 SIRT1 c.1242T>C p.F414F Substitution - coding silent Skin COSM1640995 MBD2 c.665_668delAACA p.K222fs*17 Deletion - Frameshift Stomach COSM4575444 KMT2D c.12986C>T p.A4329V Substitution - Missense Bone COSM896617 TDRD10 c.141+2T>C p.? Unknown Endometrium COSM5736507 BRPF1 c.2411C>T p.A804V Substitution - Missense Small_intestine COSM4753615 MYST3 c.1138G>T p.E380* Substitution - Nonsense Stomach COSM5670870 TAF1L c.4342A>G p.T1448A Substitution - Missense Soft_tissue COSM346890 HDAC9 c.57G>T p.E19D Substitution - Missense Lung COSM941565 SMARCC2 c.997G>T p.E333* Substitution - Nonsense Endometrium COSM4519066 TDRD6 c.946_947CC>TT p.P316L Substitution - Missense Skin COSM4797467 HCFC1 c.2055C>A p.G685G Substitution - coding silent Liver COSM4762631 KMT2C c.14494G>T p.D4832Y Substitution - Missense Stomach COSM4164573 SMYD5 c.562G>C p.G188R Substitution - Missense Kidney COSM5563368 MYST3 c.5655G>C p.Q1885H Substitution - Missense Prostate COSM1242518 KMT2D c.12397A>G p.N4133D Substitution - Missense Oesophagus COSM439085 DOT1L c.1609C>G p.Q537E Substitution - Missense Breast COSM930215 MEN1 c.1264A>G p.K422E Substitution - Missense Endometrium COSM4383598 DNMT3A c.1005delA p.K335fs*10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4756303 SMARCD2 c.280C>T p.R94W Substitution - Missense Stomach COSM3423575 ASXL1 c.3299C>A p.S1100* Substitution - Nonsense Large_intestine COSM211754 TET2 c.1993_1994insAA p.T665fs*36 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM42055 TET2 c.4076G>A p.R1359H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3567442 MBD5 c.1416C>T p.F472F Substitution - coding silent Skin COSM85982 ATRX c.20+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1236465 MINA c.369G>T p.Q123H Substitution - Missense Autonomic_ganglia COSM77943 KDM5C c.536G>A p.R179H Substitution - Missense Ovary COSM4693847 JMJD1C c.1073C>G p.S358* Substitution - Nonsense Large_intestine COSM1220365 PHF20 c.511A>C p.K171Q Substitution - Missense Large_intestine COSM4448916 KDM6B c.1434delC p.P480fs*7 Deletion - Frameshift Skin COSM990464 DNMT1 c.369A>G p.A123A Substitution - coding silent Endometrium COSM2931063 DIDO1 c.6176C>T p.P2059L Substitution - Missense Skin COSM443639 ASXL1 c.3593G>T p.G1198V Substitution - Missense Breast COSM480317 PBRM1 c.3783C>A p.Y1261* Substitution - Nonsense Kidney COSM5580894 DNMT3A c.2141C>T p.S714F Substitution - Missense Skin COSM4992302 NSD1 c.5382C>T p.F1794F Substitution - coding silent Skin COSM434570 CHD2 c.4197G>A p.E1399E Substitution - coding silent Breast COSM3567434 MBD5 c.1102C>T p.P368S Substitution - Missense Skin COSM5878761 DNMT3A c.2183_2197del15 p.G728_F732delGRLFF Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM1072 SMARCB1 c.142C>T p.P48S Substitution - Missense Soft_tissue COSM5721616 PHRF1 c.2982C>T p.S994S Substitution - coding silent Skin COSM4567020 NCOA6 c.5385_5386CC>TT p.L1796F Substitution - Missense Skin COSM3734202 HDAC4 c.842A>T p.K281I Substitution - Missense Pancreas COSM1088630 STK31 c.1141G>A p.D381N Substitution - Missense Large_intestine COSM260099 CHD9 c.7162C>T p.R2388* Substitution - Nonsense Large_intestine COSM3925533 PRDM14 c.608A>C p.H203P Substitution - Missense Skin COSM5979107 NSD1 c.3001G>A p.D1001N Substitution - Missense Upper_aerodigestive_tract COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4060201 SRCAP c.3978A>G p.P1326P Substitution - coding silent Stomach COSM5075567 SETD2 c.2099C>T p.P700L Substitution - Missense Kidney COSM279013 ASXL1 c.124G>T p.G42* Substitution - Nonsense Large_intestine COSM224933 L3MBTL3 c.1460G>A p.R487K Substitution - Missense Skin COSM1640781 BPTF c.1856A>T p.K619I Substitution - Missense Stomach COSM5985146 DNMT3A c.2640G>T p.M880I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM480162 SETD2 c.3364C>T p.R1122C Substitution - Missense Upper_aerodigestive_tract COSM380717 KDM5C c.3820G>A p.E1274K Substitution - Missense Lung COSM1247997 CDYL2 c.1443G>A p.M481I Substitution - Missense Oesophagus COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM42016 TET2 c.4393C>T p.R1465* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3360871 ZMYM4 c.2823G>T p.L941F Substitution - Missense Kidney COSM480406 PBRM1 c.1453A>T p.K485* Substitution - Nonsense Kidney COSM1040965 MECOM c.1961C>A p.A654D Substitution - Missense Endometrium COSM166836 TET2 c.5588C>A p.A1863D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM985540 CHD3 c.5735C>T p.T1912M Substitution - Missense Endometrium COSM1605806 EP400 c.97A>C p.N33H Substitution - Missense Upper_aerodigestive_tract COSM4612431 HDAC4 c.2399delC p.P800fs*30 Deletion - Frameshift Large_intestine COSM4878668 BRD4 c.1696A>G p.K566E Substitution - Missense Prostate COSM3358547 PBRM1 c.1444-1_1454delGGCAAAGAAGAA p.? Unknown Kidney COSM5829023 NCOA6 c.2793-13_2793-3delTTTTTTTTTTT p.? Unknown Large_intestine COSM43446 TET2 c.2428C>T p.Q810* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1724744 CHD7 c.3769C>T p.L1257F Substitution - Missense Skin COSM4954795 KMT2D c.15422T>C p.L5141P Substitution - Missense Liver COSM5803587 SFMBT2 c.1734T>A p.P578P Substitution - coding silent Liver COSM144642 ASXL1 c.? p.E558* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3008205 PRDM5 c.1808A>G p.E603G Substitution - Missense Large_intestine COSM3728127 KDM3B c.4130A>C p.D1377A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3998981 PHC1 c.2077A>C p.T693P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5927474 KMT2C c.2825A>C p.N942T Substitution - Missense Skin COSM5616740 SCMH1 c.69G>A p.R23R Substitution - coding silent Lung COSM4963349 FMR1 c.1684C>T p.R562C Substitution - Missense Pancreas COSM916358 PWWP2B c.148C>A p.P50T Substitution - Missense Endometrium COSM343389 PCGF6 c.761C>T p.S254F Substitution - Missense Lung COSM485085 KMT2C c.7186C>T p.Q2396* Substitution - Nonsense Kidney COSM2151469 ERCC6 c.4075A>G p.K1359E Substitution - Missense Central_nervous_system COSM5716253 SMARCA2 c.531C>T p.V177V Substitution - coding silent Skin COSM479371 RUVBL1 c.794A>G p.K265R Substitution - Missense Kidney COSM3457086 HNF1A c.138G>A p.K46K Substitution - coding silent Skin COSM5596289 ARID1A c.4852C>T p.P1618S Substitution - Missense Skin COSM693861 KDM5A c.469C>G p.L157V Substitution - Missense Lung COSM24920 HNF1A c.814C>A p.R272S Substitution - Missense Liver COSM1193633 DHX30 c.1971T>A p.D657E Substitution - Missense Lung COSM1667117 RERE c.4130A>G p.E1377G Substitution - Missense Large_intestine COSM5721981 BAZ2A c.803C>T p.T268I Substitution - Missense Skin COSM1472605 POGZ c.2423A>G p.N808S Substitution - Missense Breast COSM1239925 PRDM13 c.2085C>A p.S695R Substitution - Missense Oesophagus COSM5990105 EZH2 c.2197delT p.Y733fs*7 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM438184 MBD1 c.640C>T p.R214C Substitution - Missense Breast COSM5479523 ORC1 c.1414C>G p.P472A Substitution - Missense Large_intestine COSM4590784 ATF7IP c.2647C>A p.Q883K Substitution - Missense Upper_aerodigestive_tract COSM1616582 BRD1 c.2927A>T p.E976V Substitution - Missense Liver COSM365481 EP400 c.4351C>T p.R1451W Substitution - Missense Endometrium COSM1180774 KDM5A c.3597delA p.G1200fs*9 Deletion - Frameshift Breast COSM934230 HCFC2 c.1927C>A p.L643I Substitution - Missense Endometrium COSM4416765 BAZ2B c.426C>T p.P142P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM421530 KMT2C c.2299G>C p.E767Q Substitution - Missense Urinary_tract COSM3671353 TRIM33 c.3085C>T p.R1029C Substitution - Missense Prostate COSM1716566 BAP1 c.1538C>G p.S513* Substitution - Nonsense Pleura COSM4623771 SETBP1 c.584C>T p.T195M Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5146828 PYGO2 c.1201G>A p.V401M Substitution - Missense Large_intestine COSM3802245 HDGF c.465G>A p.K155K Substitution - coding silent Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4680478 EHMT1 c.541G>A p.V181M Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3307032 HDAC9 c.483A>C p.K161N Substitution - Missense Stomach COSM3296316 EPC2 c.2223A>T p.P741P Substitution - coding silent Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM694439 BAZ2A_ENST00000379441 c.2099-1G>A p.? Unknown Lung COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM487373 TAF1L c.2104T>A p.Y702N Substitution - Missense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3724478 ARID1A c.6586C>T p.L2196L Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM51432 ARID1A c.6472C>T p.R2158* Substitution - Nonsense Ovary COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4022253 POGZ c.158T>A p.V53E Substitution - Missense Stomach COSM3701688 BRWD1 c.1730A>G p.D577G Substitution - Missense Liver COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM14015 DAXX c.1651C>T p.Q551* Substitution - Nonsense Skin COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM1716555 ASXL1 c.1954G>A p.G652S Substitution - Missense Liver COSM219143 TET2 c.4112T>A p.V1371D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4495064 MYST3 c.4454C>T p.S1485F Substitution - Missense Skin COSM5630028 SRCAP c.1617A>G p.Q539Q Substitution - coding silent Oesophagus COSM1103008 TDRD7 c.1695G>A p.P565P Substitution - coding silent Large_intestine COSM33732 IDH2 c.515G>T p.R172M Substitution - Missense Central_nervous_system COSM4060187 SRCAP c.1824G>A p.T608T Substitution - coding silent Stomach COSM4022090 SETDB1 c.3728G>A p.R1243H Substitution - Missense Stomach COSM4072215 SETBP1 c.74C>T p.A25V Substitution - Missense Stomach COSM3053485 SMEK2 c.624T>A p.T208T Substitution - coding silent Upper_aerodigestive_tract COSM243675 CHD6 c.2600A>G p.N867S Substitution - Missense Prostate COSM5943533 PRDM1 c.840delC p.Y280fs*1 Deletion - Frameshift Skin COSM727022 L3MBTL2 c.49G>T p.E17* Substitution - Nonsense Lung COSM4854976 DHX30 c.630G>C p.M210I Substitution - Missense Cervix COSM245106 JMJD1C c.3647C>A p.S1216* Substitution - Nonsense Prostate COSM3657741 KDM4C c.97C>T p.L33F Substitution - Missense Skin COSM3741943 CHD9 c.4389A>G p.E1463E Substitution - coding silent Liver COSM2105414 KMT2A c.2817T>C p.H939H Substitution - coding silent Large_intestine COSM4391724 BRD1 c.718G>A p.A240T Substitution - Missense Prostate COSM3696324 DHX30 c.2943G>T p.Q981H Substitution - Missense Large_intestine COSM4847047 ACTL6A c.630C>G p.F210L Substitution - Missense Cervix COSM13925 SMARCC2 c.2736C>T p.I912I Substitution - coding silent Lung COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM37030 EZH2 c.1936T>C p.Y646H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Endometrium COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM78603 TAF1 c.1372C>G p.L458V Substitution - Missense Ovary COSM107312 GTF3C1 c.3709C>T p.P1237S Substitution - Missense Skin COSM108643 CHD2 c.865A>T p.N289Y Substitution - Missense Skin COSM112087 TDG c.286_287insA p.I98fs*6 Insertion - Frameshift Upper_aerodigestive_tract COSM118223 HDAC9 c.678C>T p.N226N Substitution - coding silent Ovary COSM143603 DNMT1 c.2960_2961CC>TT p.A987V Substitution - Missense Skin COSM144515 TET2 c.4615C>T p.Q1539* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM147293 RSF1 c.3900A>G p.L1300L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM162836 NCOA2 c.1172T>G p.M391R Substitution - Missense Breast COSM183450 PRDM9 c.1424C>A p.A475D Substitution - Missense Large_intestine COSM211749 TET2 c.5608T>C p.S1870P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM213097 PHF7 c.416C>A p.S139* Substitution - Nonsense Breast COSM217157 SMARCA4 c.3531C>A p.D1177E Substitution - Missense Liver COSM249617 NIPBL c.3410_3412delGAA p.R1139delR Deletion - In frame Kidney COSM224623 BRWD3 c.4661C>T p.S1554F Substitution - Missense Skin COSM249142 DNMT3A c.2185C>T p.R729W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM259669 BRPF1 c.2215C>T p.R739W Substitution - Missense Large_intestine COSM279126 BAZ2B c.16C>T p.R6W Substitution - Missense Large_intestine COSM297068 PHF2 c.2961C>A p.T987T Substitution - coding silent Liver COSM309888 CCDC101 c.673G>A p.E225K Substitution - Missense Soft_tissue COSM373184 PRDM9 c.842C>A p.T281K Substitution - Missense Lung COSM386577 EP400 c.502G>T p.G168W Substitution - Missense Stomach COSM378999 PRDM10 c.2176C>T p.R726C Substitution - Missense Lung COSM1583120 DNMT3A c.2456T>C p.L819P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM465704 ERCC6 c.732G>T p.Q244H Substitution - Missense Kidney COSM462178 ATRX c.6324G>A p.V2108V Substitution - coding silent Cervix COSM1649942 DIDO1 c.4225G>A p.E1409K Substitution - Missense Urinary_tract COSM976128 RAI1 c.3992C>T p.A1331V Substitution - Missense Endometrium COSM983285 BPTF c.1209T>C p.L403L Substitution - coding silent Endometrium COSM917509 ZMYND11 c.798C>T p.V266V Substitution - coding silent Endometrium COSM915021 TDRD1 c.1973C>T p.T658M Substitution - Missense Endometrium COSM944339 PHC1 c.2253+1G>A p.? Unknown Endometrium COSM743363 PHF3 c.2227C>T p.H743Y Substitution - Missense Urinary_tract COSM757233 KDM6A c.2832+1G>A p.? Unknown Lung COSM735574 BRD8 c.498A>G p.A166A Substitution - coding silent Lung COSM900302 TDRD5 c.1814C>T p.S605L Substitution - Missense Large_intestine COSM1043487 ZCWPW2 c.465C>T p.F155F Substitution - coding silent Skin COSM1071741 PRDM1 c.1084C>T p.L362F Substitution - Missense Endometrium COSM971514 FTO c.1171A>C p.K391Q Substitution - Missense Endometrium COSM1078490 BRPF3 c.2166C>A p.F722L Substitution - Missense Endometrium COSM1088167 HDAC9 c.1352G>A p.R451Q Substitution - Missense Stomach COSM1087525 KMT2C c.12817C>A p.P4273T Substitution - Missense Endometrium COSM1085207 SND1 c.2482C>T p.L828F Substitution - Missense Endometrium COSM1245825 ATRX c.2202G>T p.M734I Substitution - Missense Oesophagus COSM1242007 ARID1A c.3211delA p.K1072fs*21 Deletion - Frameshift Breast COSM1220362 PHF20 c.2482C>T p.R828C Substitution - Missense Large_intestine COSM1211736 KDM4B c.1523T>C p.V508A Substitution - Missense Large_intestine COSM1315602 PHF8 c.1260C>T p.I420I Substitution - coding silent Urinary_tract COSM1303971 SMARCA4 c.2220G>A p.E740E Substitution - coding silent Urinary_tract COSM1306368 IDH1 c.873G>A p.M291I Substitution - Missense Urinary_tract COSM1327060 MSH6 c.2346C>G p.L782L Substitution - coding silent Ovary COSM1387351 CHD3 c.1612delC p.R540fs*16 Deletion - Frameshift Large_intestine COSM1381121 NCOR1 c.6278T>C p.V2093A Substitution - Missense Large_intestine COSM1509483 DPF2 c.1045G>A p.D349N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1615454 DNMT3B c.96C>T p.S32S Substitution - coding silent Liver COSM1615186 KDM3A c.99G>A p.W33* Substitution - Nonsense Liver COSM1683028 HCFC1 c.5665C>T p.R1889C Substitution - Missense Large_intestine COSM1676676 ING4 c.695C>A p.P232H Substitution - Missense Large_intestine COSM1645004 SMARCA2 c.3395G>T p.G1132V Substitution - Missense Salivary_gland COSM1688026 BRDT c.544C>T p.P182S Substitution - Missense Skin COSM1675577 TDRD1 c.2499A>G p.I833M Substitution - Missense Large_intestine COSM1705491 ARID2 c.3298C>T p.Q1100* Substitution - Nonsense Liver COSM1752896 MBD4 c.1027G>A p.E343K Substitution - Missense Urinary_tract COSM1935800 SMARCC2 c.1355G>A p.G452D Substitution - Missense Large_intestine COSM1966277 TAF3 c.2103G>T p.K701N Substitution - Missense Large_intestine COSM2068727 HDAC7 c.2304delC p.M769fs*12 Deletion - Frameshift Large_intestine COSM2740259 RAI1 c.4927G>C p.D1643H Substitution - Missense Large_intestine COSM3304388 KMT2C c.2718C>T p.G906G Substitution - coding silent Large_intestine COSM3353148 TDRD6 c.5857C>T p.R1953C Substitution - Missense Upper_aerodigestive_tract COSM3380716 SETD5_ENST00000402198 c.702A>T p.E234D Substitution - Missense Pancreas COSM3508911 SRCAP c.5989C>T p.P1997S Substitution - Missense Skin COSM3501100 MGA c.3073C>T p.L1025F Substitution - Missense Skin COSM3622178 JARID2 c.2295C>T p.A765A Substitution - coding silent Skin COSM3636507 KMT2C c.5455A>T p.M1819L Substitution - Missense Skin COSM3578909 SP140_ENST00000392045 c.1895G>A p.G632E Substitution - Missense Skin COSM3526243 CXXC1 c.307C>T p.R103W Substitution - Missense Skin COSM3696325 DHX30 c.3170T>A p.L1057Q Substitution - Missense Large_intestine COSM3686351 PHIP c.3657-4delT p.? Unknown Large_intestine COSM3682803 CDY2B c.238A>C p.R80R Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3681448 EP300 c.5412G>A p.P1804P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3669686 SND1 c.2477G>A p.C826Y Substitution - Missense Liver COSM3730597 TDRD5 c.1981C>T p.R661* Substitution - Nonsense Stomach COSM3813514 ZMYM5 c.437C>T p.T146I Substitution - Missense Breast COSM3813961 PHF11 c.728C>G p.S243* Substitution - Nonsense Breast COSM3788789 ASH1L c.2512C>G p.Q838E Substitution - Missense Urinary_tract COSM3850440 KDM3B c.4428A>C p.E1476D Substitution - Missense Stomach COSM3825185 PHF17 c.795T>G p.G265G Substitution - coding silent Breast COSM3824036 DHX30 c.2112G>T p.V704V Substitution - coding silent Breast COSM3915316 MECOM c.1679G>A p.R560Q Substitution - Missense Skin COSM3905428 BRD3 c.888C>T p.G296G Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3879575 KMT2C c.5870C>T p.T1957M Substitution - Missense Stomach COSM4023190 LMNA c.1891G>A p.G631S Substitution - Missense Stomach COSM4041982 ARID2 c.620C>T p.A207V Substitution - Missense Stomach COSM4034314 PHRF1 c.574A>G p.S192G Substitution - Missense Stomach COSM4080437 KDM4B c.945G>A p.K315K Substitution - coding silent Stomach COSM4107282 FMR1 c.1685G>A p.R562H Substitution - Missense Large_intestine COSM4120579 SETD5_ENST00000402198 c.1592G>A p.R531Q Substitution - Missense Stomach COSM4138112 BRD7 c.1536C>T p.S512S Substitution - coding silent Pancreas COSM4169964 EP300 c.6776C>T p.A2259V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4187815 ZBTB38 c.2705_2711delTGTTCGA p.F903fs*27 Deletion - Frameshift Kidney COSM4383560 DNMT3A c.1736delA p.D579fs*72 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4387046 EP300 c.2534C>G p.T845S Substitution - Missense Lung COSM4413010 SMARCA5 c.1125T>A p.L375L Substitution - coding silent Oesophagus COSM4419399 NCOA1 c.1512A>T p.P504P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4441611 KDM5A c.4262C>A p.P1421Q Substitution - Missense Large_intestine COSM4425734 NCOR1 c.6169-4A>G p.? Unknown Oesophagus COSM4491112 TRRAP c.3749C>T p.T1250I Substitution - Missense Skin COSM4514102 ING3 c.962C>T p.S321F Substitution - Missense Skin COSM4554892 TDRKH c.634G>A p.V212I Substitution - Missense Skin COSM4485504 BRWD1 c.293C>T p.S98L Substitution - Missense Skin COSM4437501 SMARCD3 c.378G>A p.K126K Substitution - coding silent Oesophagus COSM4468188 CARM1 c.1530C>T p.A510A Substitution - coding silent Skin COSM4468658 TAF1 c.1492C>T p.P498S Substitution - Missense Skin COSM4717866 PRMT1 c.1040G>C p.R347P Substitution - Missense Large_intestine COSM4689204 GTF3C4 c.1854C>T p.D618D Substitution - coding silent Large_intestine COSM4799400 DNMT3B c.2162T>C p.I721T Substitution - Missense Liver COSM4789005 PRMT7 c.747-2A>G p.? Unknown Liver COSM4794196 BAZ2A c.3744G>A p.Q1248Q Substitution - coding silent Liver COSM4846694 KMT2A c.6136C>T p.P2046S Substitution - Missense Cervix COSM4971822 JMJD1C c.822G>T p.L274F Substitution - Missense Central_nervous_system COSM5019408 DNMT1 c.1584C>A p.I528I Substitution - coding silent Soft_tissue COSM5009882 EP300 c.2240C>T p.P747L Substitution - Missense Large_intestine COSM5188217 SIRT2 c.113-6G>A p.? Unknown Large_intestine COSM5038476 DNMT3A c.1474+2T>G p.? Unknown Skin COSM5379348 RBBP5 c.1084C>T p.P362S Substitution - Missense Skin COSM5357619 PRDM13 c.1358G>A p.S453N Substitution - Missense Large_intestine COSM5448093 KMT2A c.9827C>A p.T3276N Substitution - Missense Large_intestine COSM5429138 VPS72 c.46C>A p.R16R Substitution - coding silent Oesophagus COSM5459436 SMARCA2 c.2774A>G p.D925G Substitution - Missense Large_intestine COSM5423161 ING1 c.594G>A p.A198A Substitution - coding silent Prostate COSM5632459 MYST3 c.2528C>T p.S843F Substitution - Missense Oesophagus COSM5574825 NSD1 c.7163C>T p.P2388L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5651036 ING1 c.673G>C p.G225R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5736832 TBL1XR1 c.526G>A p.A176T Substitution - Missense Small_intestine COSM5718000 SMARCA4 c.1902C>T p.P634P Substitution - coding silent Skin COSM5598367 HCFC1 c.2090C>T p.S697L Substitution - Missense Skin COSM5677684 INOC1 c.2372C>T p.S791F Substitution - Missense Soft_tissue COSM5678340 ATRX c.1637G>T p.G546V Substitution - Missense Soft_tissue COSM5572890 PBRM1 c.2980T>C p.Y994H Substitution - Missense Prostate COSM5565261 CHD7 c.7879C>T p.R2627* Substitution - Nonsense Prostate COSM5548739 EYA2 c.457G>A p.A153T Substitution - Missense Prostate COSM5767176 DIDO1 c.2493C>T p.D831D Substitution - coding silent Breast COSM5781176 BRPF1 c.2593G>T p.D865Y Substitution - Missense Breast COSM5814690 EYA3 c.660A>T p.T220T Substitution - coding silent Liver COSM5892733 KDM3A c.601G>A p.D201N Substitution - Missense Skin COSM5962126 KAT6B c.1394G>T p.R465M Substitution - Missense Breast COSM5961585 CXXC1 c.32C>T p.P11L Substitution - Missense Adrenal_gland COSM5986222 TBL1XR1 c.968C>A p.A323D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6011296 TBL1XR1 c.141T>G p.A47A Substitution - coding silent Skin COSM6006594 TTF2 c.1430G>T p.S477I Substitution - Missense Prostate COSM5992862 KDM4A c.2301A>G p.S767S Substitution - coding silent Prostate COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM23043 MEN1 c.? p.E358* Substitution - Nonsense Parathyroid COSM42032 TET2 c.4978A>G p.R1660G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM22628 MEN1 c.? p.V53I Substitution - Missense Small_intestine COSM132969 ASXL1 c.? p.L823* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1238047 ARID1A c.? p.Q1334_R1335insQ Insertion - In frame Skin COSM1666676 SETBP1 c.? p.I871T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM42082 TET2 c.2999_2999delA p.N1000fs*7 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5415912 TET2 c.? p.R1261P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3735806 ACTA1 c.55G>A p.V19M Substitution - Missense Skin COSM166352 MSH6 c.? p.P1087fs*5 Unknown Large_intestine COSM41900 TET2 c.? p.C1271* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM87117 TET2 c.3409+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5988493 HNF1A c.1392C>T p.F464F Substitution - coding silent Liver COSM5896904 ATAD2 c.1482C>A p.F494L Substitution - Missense Skin COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM3360041 ZMYM2 c.3542G>A p.S1181N Substitution - Missense Kidney COSM944177 AICDA c.466G>A p.E156K Substitution - Missense Skin COSM53237 TET2 c.? p.R1878H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4519779 ASH1L c.1028G>A p.G343E Substitution - Missense Skin COSM1644130 TET2 c.1954_1954delC p.Q652fs*48 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4108375 RBBP7 c.831C>T p.C277C Substitution - coding silent Stomach COSM698266 ARID4A c.1673A>G p.K558R Substitution - Missense Lung COSM727028 EP300 c.4241A>G p.Y1414C Substitution - Missense Liver COSM3445294 PRDM10 c.2409C>T p.L803L Substitution - coding silent Skin COSM4978790 PHC3 c.968C>G p.S323* Substitution - Nonsense Oesophagus COSM440563 TRIM28 c.1310C>G p.S437C Substitution - Missense Breast COSM3637537 STK31 c.722C>T p.P241L Substitution - Missense Skin COSM954440 CHD8 c.3274C>T p.R1092C Substitution - Missense Endometrium COSM4617574 ORC1 c.608C>T p.T203I Substitution - Missense Large_intestine COSM698270 ARID4A c.670A>G p.I224V Substitution - Missense Lung COSM1989261 MBD6 c.2151delG p.A719fs*33 Deletion - Frameshift Large_intestine COSM1666674 SETBP1 c.? p.S869G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4521585 DNMT3B c.1119G>A p.R373R Substitution - coding silent Skin COSM1477268 SETDB2 c.676A>G p.T226A Substitution - Missense Breast COSM3410254 NIPBL c.8390C>T p.A2797V Substitution - Missense Central_nervous_system COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5441684 AIRE c.511G>C p.E171Q Substitution - Missense Oesophagus COSM4986678 SP110 c.1737G>A p.M579I Substitution - Missense Soft_tissue COSM1079893 TDRD6 c.2582C>A p.S861Y Substitution - Missense Large_intestine COSM3733523 NCOR1 c.14G>T p.G5V Substitution - Missense Upper_aerodigestive_tract COSM4165924 KDM2A c.2002A>C p.N668H Substitution - Missense Kidney COSM23020 MEN1 c.1324C>T p.Q442* Substitution - Nonsense Parathyroid COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1399854 EPC2 c.200delA p.E70fs*39 Deletion - Frameshift Large_intestine COSM2720082 CHD7 c.4778G>A p.R1593H Substitution - Missense Large_intestine COSM221606 TET2 c.2362G>A p.E788K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144626 PHF6 c.955C>T p.R319* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5755167 CHD3 c.4210G>A p.G1404R Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM1622397 TRIM24 c.2110G>A p.A704T Substitution - Missense Liver COSM3488906 ZMYM4 c.4158C>T p.F1386F Substitution - coding silent Skin COSM452694 KMT2C c.10750G>A p.G3584R Substitution - Missense Breast COSM4965690 TRRAP c.3430C>T p.R1144C Substitution - Missense Pancreas COSM147495 KMT2D c.11700A>G p.P3900P Substitution - coding silent Soft_tissue COSM302354 HDAC2 c.73_75delTAT p.Y25delY Deletion - In frame Central_nervous_system COSM85810 DAXX c.306_309delGGCG p.A103fs*40 Deletion - Frameshift Pancreas COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM4777257 PHF20L1 c.283G>C p.A95P Substitution - Missense Breast COSM43417 TET2 c.2746C>T p.Q916* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM306072 EZH2 c.2051G>A p.R684H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5480090 ATF7IP c.3704C>T p.S1235F Substitution - Missense Large_intestine COSM5737880 HDAC9 c.2938-1G>A p.? Unknown Small_intestine COSM1624855 SMARCA2 c.3502G>A p.E1168K Substitution - Missense Liver COSM281297 GABRG1 c.559G>A p.E187K Substitution - Missense Large_intestine COSM371483 KMT2C c.10112C>T p.S3371L Substitution - Missense Lung COSM3378297 BPTF c.7330G>T p.V2444F Substitution - Missense Pancreas COSM3657690 KIAA2026_ENST00000399933 c.5852T>G p.L1951* Substitution - Nonsense Skin COSM3799621 NCOA3 c.274G>A p.D92N Substitution - Missense Urinary_tract COSM3624643 BAG6 c.2338C>T p.R780* Substitution - Nonsense Skin COSM3989098 CBX1 c.403C>T p.L135L Substitution - coding silent Kidney COSM735547 KDM3B c.4583C>G p.P1528R Substitution - Missense Lung COSM4590719 KAT2A c.1583C>T p.S528F Substitution - Missense Upper_aerodigestive_tract COSM5720544 HDGFL1 c.682G>A p.E228K Substitution - Missense Skin COSM4419270 MGA c.4714C>G p.P1572A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM255179 ARID1A c.3216_3216delA p.K1072fs*21 Deletion - Frameshift Stomach COSM3906842 TAF1L c.3170A>G p.H1057R Substitution - Missense Stomach COSM738272 PRDM9 c.2240C>A p.P747H Substitution - Missense Lung COSM468038 EP400 c.8229G>A p.Q2743Q Substitution - coding silent Biliary_tract COSM468038 EP400 c.8229G>A p.Q2743Q Substitution - coding silent Prostate COSM5177080 MTA2 c.1698delA p.A568fs*29 Deletion - Frameshift Large_intestine COSM4732920 TDRD7 c.2413-1G>T p.? Unknown Large_intestine COSM4646313 SFMBT2 c.2137G>A p.A713T Substitution - Missense Large_intestine COSM1603627 JMJD1C c.1000T>G p.F334V Substitution - Missense Liver COSM4165242 ORC1 c.757T>A p.C253S Substitution - Missense Kidney COSM741835 EHMT2 c.194C>A p.S65* Substitution - Nonsense Lung COSM1364809 PHC1 c.2469C>T p.C823C Substitution - coding silent Cervix COSM1192920 TET2 c.4645_4646insAGC p.Q1548_P1549insQ Insertion - In frame Lung COSM5506721 SETMAR c.280G>T p.E94* Substitution - Nonsense Biliary_tract COSM1082 SMARCB1 c.177_178ins28 p.E59fs*20 Insertion - Frameshift Soft_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5995541 GABRG1 c.1038A>C p.A346A Substitution - coding silent Prostate COSM5638624 RNF17 c.317+1G>A p.? Unknown Oesophagus COSM1388493 ASXL3 c.54C>A p.F18L Substitution - Missense Large_intestine COSM4926013 PHF8 c.1265A>G p.E422G Substitution - Missense Liver COSM4016602 BTAF1 c.1932A>T p.Q644H Substitution - Missense Stomach COSM4805205 BAZ1A c.3262G>C p.E1088Q Substitution - Missense Liver COSM4681111 EP400 c.2391G>A p.K797K Substitution - coding silent Large_intestine COSM1220355 PHF2 c.1477A>G p.T493A Substitution - Missense Large_intestine COSM990756 SMARCA4 c.3630_3632delGGA p.E1212delE Deletion - In frame Endometrium COSM404518 SHPRH c.1239G>T p.P413P Substitution - coding silent Lung COSM1473864 HDAC1 c.504G>A p.Q168Q Substitution - coding silent Breast COSM1474737 SFMBT2 c.892C>G p.H298D Substitution - Missense Breast COSM88090 KMT2D c.15691C>T p.R5231* Substitution - Nonsense Breast COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4121157 INTS12 c.275T>G p.V92G Substitution - Missense Stomach COSM1623349 TRRAP c.1536A>C p.P512P Substitution - coding silent Liver COSM3846819 FXR1 c.1224C>T p.P408P Substitution - coding silent Breast COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1359746 SETD8 c.322G>A p.A108T Substitution - Missense Large_intestine COSM1054433 WHSC1 c.1627G>A p.D543N Substitution - Missense Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33731 IDH2 c.514A>G p.R172G Substitution - Missense Central_nervous_system COSM1267360 TAF1L c.2743C>A p.Q915K Substitution - Missense Stomach COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4442502 SETD2 c.2300C>T p.T767M Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1232606 WDR5 c.586C>T p.R196C Substitution - Missense Large_intestine COSM23037 MEN1 c.? p.R98* Substitution - Nonsense Parathyroid COSM5550143 GATAD2B c.1661C>G p.A554G Substitution - Missense Prostate COSM5040578 BRD3 c.1093A>T p.M365L Substitution - Missense Liver COSM1201019 CHD9 c.5381G>A p.R1794H Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM233095 PHC1 c.595C>T p.H199Y Substitution - Missense Skin COSM4820820 ZBTB38 c.1661G>A p.G554E Substitution - Missense Cervix COSM5425984 KMT2A c.7061C>G p.P2354R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM709357 MBD2 c.410G>C p.G137A Substitution - Missense Lung COSM160428 DIDO1 c.4258G>A p.E1420K Substitution - Missense Stomach COSM459772 NCOA6 c.484G>T p.E162* Substitution - Nonsense Cervix COSM5879673 ASXL1 c.2431delA p.N811fs*7 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85809 DAXX c.2042_2043insT p.S682fs*59 Insertion - Frameshift Pancreas COSM5724500 PRMT3 c.1044G>A p.K348K Substitution - coding silent Skin COSM358060 PRDM16 c.1374C>A p.A458A Substitution - coding silent Lung COSM1628617 ARID2 c.5328delA p.N1778fs*13 Deletion - Frameshift Liver COSM1562941 MGA c.6117G>A p.T2039T Substitution - coding silent Large_intestine COSM1387283 BAHCC1 c.2544_2545insC p.G851fs*229 Insertion - Frameshift Large_intestine COSM2158625 JMJD1C c.66C>T p.T22T Substitution - coding silent Large_intestine COSM4777804 TIF1 c.1213_1214insC p.Q405fs*5 Insertion - Frameshift Prostate COSM4492091 PHF19 c.390C>T p.P130P Substitution - coding silent Skin COSM3112883 SRCAP c.3168C>T p.A1056A Substitution - coding silent Large_intestine COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM233539 TAF1L c.487G>A p.G163R Substitution - Missense Skin COSM4450654 MPHOSPH8 c.756delA p.E255fs*60 Deletion - Frameshift Skin COSM5609218 KDM6A c.521G>A p.G174E Substitution - Missense Skin COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM23398 MEN1 c.249_252delGTCT p.I85fs*33 Deletion - Frameshift Lung COSM3426185 SP100 c.545G>A p.R182Q Substitution - Missense Large_intestine COSM87161 TET2 c.4138C>T p.H1380Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1166702 KMT2C c.13432C>T p.R4478* Substitution - Nonsense Breast COSM226129 PRDM9 c.2358A>C p.R786S Substitution - Missense Endometrium COSM437708 CBX8 c.950G>T p.G317V Substitution - Missense Liver COSM4497679 TAF1L c.5021C>T p.S1674F Substitution - Missense Skin COSM4170758 CREBBP c.4112T>A p.V1371D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5498371 TRIM28 c.1642G>A p.A548T Substitution - Missense Biliary_tract COSM5752706 ARID1A c.1543C>T p.Q515* Substitution - Nonsense Breast COSM1344514 RERE c.3600C>T p.R1200R Substitution - coding silent Large_intestine COSM1167993 ARID2 c.3937C>T p.Q1313* Substitution - Nonsense Skin COSM3637040 HDAC9 c.1370T>G p.L457W Substitution - Missense Skin COSM3838812 SP100 c.401A>G p.Y134C Substitution - Missense Breast COSM4036081 SUV420H1 c.1822G>T p.G608C Substitution - Missense Stomach COSM4758786 SMEK1 c.989A>G p.E330G Substitution - Missense Stomach COSM3454805 KDM4D c.704C>T p.S235F Substitution - Missense Skin COSM1168034 TET2 c.3426_3426delA p.D1143fs*9 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3861865 EHMT2 c.2750G>A p.R917H Substitution - Missense Stomach COSM5992312 BRDT c.2288-8G>A p.? Unknown Prostate COSM1676474 KMT2A c.9457T>G p.L3153V Substitution - Missense Large_intestine COSM753010 EHMT1 c.3409C>T p.R1137* Substitution - Nonsense Lung COSM1099963 MYST3 c.824C>T p.A275V Substitution - Missense Endometrium COSM252462 DAXX c.202G>A p.E68K Substitution - Missense Ovary COSM1628608 ARID2 c.1298G>T p.C433F Substitution - Missense Liver COSM3622170 JARID2 c.743C>T p.P248L Substitution - Missense Skin COSM162514 KMT2C c.13244G>A p.G4415E Substitution - Missense Breast COSM4384344 KMT2C c.3919T>G p.S1307A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1250608 DPF2 c.454C>T p.R152* Substitution - Nonsense Stomach COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM969923 SRCAP c.1768G>A p.A590T Substitution - Missense Endometrium COSM1352560 PRDM10 c.3449A>T p.E1150V Substitution - Missense Large_intestine COSM2140950 CHD2 c.3998G>A p.G1333D Substitution - Missense Large_intestine COSM3762512 KMT2C c.8685G>A p.Q2895Q Substitution - coding silent Large_intestine COSM39706 ASH1L c.3127G>C p.G1043R Substitution - Missense Central_nervous_system COSM914366 ASXL1 c.? p.S989fs*8 Frameshift Haematopoietic_and_lymphoid_tissue COSM4407839 TAF1L c.3763C>T p.R1255W Substitution - Missense Liver COSM1304864 UHRF1 c.135C>A p.I45I Substitution - coding silent Urinary_tract COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3408707 SETD2 c.3812A>G p.H1271R Substitution - Missense Central_nervous_system COSM1159737 ARID1A c.4945_4946insA p.T1649fs*49 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM703469 CHD9 c.2789G>T p.W930L Substitution - Missense Lung COSM3523215 KDM6B c.2598C>T p.S866S Substitution - coding silent Skin COSM3707006 SRCAP c.7858C>T p.Q2620* Substitution - Nonsense Liver COSM3203546 MECOM c.2468C>T p.S823L Substitution - Missense Skin COSM1283688 BTAF1 c.4493C>T p.P1498L Substitution - Missense Stomach COSM4679240 DPF2 c.1017+1G>A p.? Unknown Large_intestine COSM1130335 HDAC11 c.447C>T p.G149G Substitution - coding silent Prostate COSM5782116 TAF1 c.498G>A p.M166I Substitution - Missense Breast COSM34090 IDH2 c.516G>T p.R172S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5023920 PRDM1 c.469A>G p.N157D Substitution - Missense Bone COSM3426800 UTY c.915G>A p.R305R Substitution - coding silent Large_intestine COSM939704 HDAC7 c.1963C>T p.R655C Substitution - Missense Endometrium COSM2151287 BAZ2A_ENST00000379441 c.1487C>T p.S496F Substitution - Missense Central_nervous_system COSM3865272 PRDM16 c.158C>T p.P53L Substitution - Missense Skin COSM1081874 PHIP c.764G>A p.R255Q Substitution - Missense Endometrium COSM4487814 SMARCC2 c.3233C>T p.P1078L Substitution - Missense Skin COSM5678237 MBD4 c.838C>G p.Q280E Substitution - Missense Soft_tissue COSM86973 IKZF1 c.161-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5041914 BAZ2A c.844+1G>A p.? Unknown Liver COSM392901 SIRT6 c.73G>A p.D25N Substitution - Missense Lung COSM5561640 HCFC1 c.4253C>T p.P1418L Substitution - Missense Prostate COSM80882 ARID4A c.2622A>T p.G874G Substitution - coding silent Ovary COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Bone COSM5020847 KDM5C c.2280G>A p.L760L Substitution - coding silent Soft_tissue COSM316225 TRRAP c.7957G>T p.A2653S Substitution - Missense Lung COSM5728564 DHX30 c.854C>T p.P285L Substitution - Missense Skin COSM1330432 TRRAP c.8048A>G p.N2683S Substitution - Missense Ovary COSM307327 BAZ2B c.5875T>C p.Y1959H Substitution - Missense Liver COSM3701610 DNMT3B c.2561A>T p.*854L Nonstop extension Liver COSM5742253 PHF16 c.2061C>A p.F687L Substitution - Missense Small_intestine COSM5879671 ASXL1 c.2413delC p.T806fs*12 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1622069 ACTL6B c.759+8T>G p.? Unknown Liver COSM4383952 TET2 c.4519C>T p.Q1507* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3596036 BAP1 c.1885C>T p.P629S Substitution - Missense Skin COSM700633 MGA c.7960C>T p.L2654F Substitution - Missense Lung COSM679189 ACTA1 c.414C>T p.I138I Substitution - coding silent Lung COSM452704 KMT2C c.6439C>T p.Q2147* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1258839 NCOA3 c.1401A>C p.P467P Substitution - coding silent Oesophagus COSM5672788 ACTR5 c.467A>T p.Y156F Substitution - Missense Soft_tissue COSM4771353 L3MBTL2 c.1588G>T p.D530Y Substitution - Missense Pleura COSM5937892 EP300 c.2536C>T p.P846S Substitution - Missense Skin COSM5724186 RTF1 c.632C>T p.S211L Substitution - Missense Skin COSM5952540 KDM3B c.4260A>G p.V1420V Substitution - coding silent Oesophagus COSM4614352 PHF1 c.715delG p.G240fs*137 Deletion - Frameshift Large_intestine COSM1659897 CHD2 c.604A>T p.R202* Substitution - Nonsense Kidney COSM5998236 TAF1L c.1526C>T p.A509V Substitution - Missense Prostate COSM95729 PRDM16 c.676+1G>A p.? Unknown Breast COSM1676464 KMT2A c.3185C>A p.S1062Y Substitution - Missense Large_intestine COSM1691881 IDH1 c.683A>G p.Q228R Substitution - Missense Skin COSM274975 EP300 c.1739G>A p.R580Q Substitution - Missense Large_intestine COSM404059 ASXL3 c.2387G>T p.S796I Substitution - Missense Lung COSM969259 GTF3C1 c.2444C>A p.P815H Substitution - Missense Endometrium COSM150072 PHF1 c.519G>C p.G173G Substitution - coding silent Stomach COSM4097563 ASXL1 c.3010G>A p.D1004N Substitution - Missense Stomach COSM5780440 SIRT2 c.325A>C p.K109Q Substitution - Missense Breast COSM1608008 ALKBH1 c.857A>G p.N286S Substitution - Missense Liver COSM4440603 DIDO1 c.6101delC p.P2034fs*>207 Deletion - Frameshift Thyroid COSM5585924 NIPBL c.5375C>T p.A1792V Substitution - Missense Skin COSM3626166 BRPF3 c.1870C>T p.P624S Substitution - Missense Skin COSM5756966 SND1 c.1979A>G p.H660R Substitution - Missense Large_intestine COSM3830112 BAG6 c.3006A>G p.E1002E Substitution - coding silent Breast COSM1075287 JARID2 c.3661C>T p.R1221C Substitution - Missense Large_intestine COSM1067681 NIPBL c.4607G>A p.R1536Q Substitution - Missense Endometrium COSM4756669 BPTF c.7171C>T p.P2391S Substitution - Missense Stomach COSM1248219 CHD6 c.8136C>T p.N2712N Substitution - coding silent Oesophagus COSM5945069 TET2 c.5543C>G p.S1848* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM751077 CHD7 c.1245G>A p.P415P Substitution - coding silent Prostate COSM4753651 MGA c.9344G>T p.*3115L Nonstop extension Stomach COSM3490293 RAD54L c.1152C>T p.L384L Substitution - coding silent Skin COSM4659176 ACTR6 c.90C>T p.F30F Substitution - coding silent Large_intestine COSM97816 EP300 c.4154G>T p.C1385F Substitution - Missense Upper_aerodigestive_tract COSM5900171 TAF1L c.1141T>C p.F381L Substitution - Missense Skin COSM3766951 KDM6A c.815A>T p.Y272F Substitution - Missense Liver COSM282119 KDM5A c.4619A>T p.K1540M Substitution - Missense Large_intestine COSM1388712 SETBP1 c.1420G>T p.E474* Substitution - Nonsense Large_intestine COSM2149913 BAHD1 c.381C>T p.L127L Substitution - coding silent Central_nervous_system COSM3523586 BAHCC1 c.2456C>T p.P819L Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4435165 MLL5 c.3969A>G p.E1323E Substitution - coding silent Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1312940 HDAC9 c.1749G>A p.T583T Substitution - coding silent Large_intestine COSM4961018 KMT2D c.10313G>A p.S3438N Substitution - Missense Liver COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3201913 DPF1 c.254A>G p.N85S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3483230 SMYD2 c.354C>T p.I118I Substitution - coding silent Skin COSM2828762 SETD5_ENST00000402198 c.1014G>C p.V338V Substitution - coding silent Upper_aerodigestive_tract COSM5565859 ELP3 c.1151G>A p.R384K Substitution - Missense Prostate COSM4387152 YY1 c.757G>A p.E253K Substitution - Missense Lung COSM53215 ASXL1 c.4127_4128insG p.P1377fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1184398 BAHCC1 c.7288C>T p.R2430W Substitution - Missense Large_intestine COSM5904606 PHRF1 c.1777C>T p.R593C Substitution - Missense Skin COSM211758 MEN1 c.1125_1128delGCTG p.L376fs*68 Deletion - Frameshift Parathyroid COSM3710708 SETD1B c.859C>T p.P287S Substitution - Missense Upper_aerodigestive_tract COSM3460963 ARID2 c.811C>T p.H271Y Substitution - Missense Skin COSM5944197 DNMT3A c.1530_1535delTGGAGG p.G511_G512delGG Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM273326 TAF1L c.3096T>C p.P1032P Substitution - coding silent Stomach COSM5752365 KMT2C c.653delA p.D218fs*43 Deletion - Frameshift Breast COSM1628614 ARID2 c.5260C>T p.R1754* Substitution - Nonsense Upper_aerodigestive_tract COSM3933687 PCGF1 c.670A>C p.I224L Substitution - Missense Urinary_tract COSM5746117 SMARCC1 c.1436delA p.N479fs*16 Deletion - Frameshift Pancreas COSM4518599 SRCAP c.7112_7113CC>TT p.S2371F Substitution - Missense Skin COSM5618586 DPF1 c.94G>T p.A32S Substitution - Missense Breast COSM4158281 ATXN7 c.116A>C p.Q39P Substitution - Missense Large_intestine COSM5583139 ZMYM4 c.3225C>T p.L1075L Substitution - coding silent Skin COSM4410851 SUV39H2 c.634delA p.R213fs*2 Deletion - Frameshift Kidney COSM3867845 KAT6B c.6028C>T p.H2010Y Substitution - Missense Skin COSM3175972 PHIP c.3209A>G p.D1070G Substitution - Missense Large_intestine COSM4164738 NCOA5 c.184G>C p.D62H Substitution - Missense Kidney COSM4790699 SMARCA5 c.2435C>T p.A812V Substitution - Missense Liver COSM2810356 ASXL3 c.1739delA p.V583fs*59 Deletion - Frameshift Large_intestine COSM21294 TRRAP c.8738C>T p.T2913M Substitution - Missense Large_intestine COSM24915 HNF1A c.607C>T p.R203C Substitution - Missense Liver COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM40585 SFMBT2 c.2669C>T p.A890V Substitution - Missense Central_nervous_system COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM110763 TET2 c.256_257insT p.S86fs*14 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM108594 MECOM c.2626G>A p.E876K Substitution - Missense Skin COSM112087 TDG c.286_287insA p.I98fs*6 Insertion - Frameshift Central_nervous_system COSM146212 PHC2 c.2282G>C p.R761P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144178 EZH2 c.1216_1219delAAAG p.K406fs*17 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM215749 SMARCA4 c.2461G>A p.E821K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM216431 SETBP1 c.147G>A p.P49P Substitution - coding silent Pancreas COSM255186 PHF6 c.902_903insA p.Y301fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM235193 PHF12 c.2898G>A p.E966E Substitution - coding silent Skin COSM227525 KMT2C c.2294A>G p.E765G Substitution - Missense Skin COSM244619 FTO c.722C>T p.A241V Substitution - Missense Prostate COSM246764 PRDM16 c.101C>T p.A34V Substitution - Missense Prostate COSM243680 CHD9 c.3791G>A p.G1264D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM245704 KMT2A c.6222C>T p.C2074C Substitution - coding silent Prostate COSM240684 KMT2D c.9830G>A p.R3277H Substitution - Missense Central_nervous_system COSM256421 BRWD3 c.485T>C p.F162S Substitution - Missense Large_intestine COSM263650 SHPRH c.1288G>A p.E430K Substitution - Missense Large_intestine COSM257718 PHF16 c.1613G>T p.R538I Substitution - Missense Large_intestine COSM290980 ARID1B c.4435_4442delGACGATAT p.D1480fs*9 Deletion - Frameshift Large_intestine COSM294697 PHC1 c.2561G>A p.R854H Substitution - Missense Large_intestine COSM315203 SIRT2 c.654G>A p.T218T Substitution - coding silent Lung COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Large_intestine COSM322974 RAG2 c.1276G>T p.D426Y Substitution - Missense Lung COSM355691 PHF8 c.873G>A p.M291I Substitution - Missense Lung COSM395442 SIRT3 c.659G>T p.G220V Substitution - Missense Lung COSM423033 BAP1 c.1219delG p.D407fs*23 Deletion - Frameshift Kidney COSM460255 BPTF c.6769C>T p.P2257S Substitution - Missense Soft_tissue COSM459127 RAD54L c.460C>T p.R154W Substitution - Missense Cervix COSM459432 BAZ2A c.4230C>G p.F1410L Substitution - Missense Cervix COSM693843 HDAC7 c.1626G>C p.P542P Substitution - coding silent Lung COSM941720 BAZ2A c.5772C>T p.R1924R Substitution - coding silent Endometrium COSM749291 PHF20L1 c.23G>T p.R8L Substitution - Missense Lung COSM908360 PRDM16 c.2448C>T p.N816N Substitution - coding silent Endometrium COSM947882 PHF11 c.301G>T p.E101* Substitution - Nonsense Endometrium COSM896929 ASH1L c.3744_3745delTA p.H1248fs*5 Deletion - Frameshift Endometrium COSM933549 KDM4D c.1175G>A p.R392H Substitution - Missense Endometrium COSM961494 MGA c.1079G>T p.S360I Substitution - Missense Endometrium COSM1108532 KIAA1045 c.743C>T p.A248V Substitution - Missense Stomach COSM1125815 BRWD3 c.4364G>A p.S1455N Substitution - Missense Endometrium COSM1098850 ELP3 c.538G>T p.E180* Substitution - Nonsense Endometrium COSM1088191 HDAC9 c.2350G>T p.G784C Substitution - Missense Endometrium COSM1087033 EZH2 c.2233G>A p.E745K Substitution - Missense Endometrium COSM1106541 BRD3 c.1659C>T p.G553G Substitution - coding silent Stomach COSM1239819 PHF12 c.2969_2970delTC p.L990fs*>15 Deletion - Frameshift Oesophagus COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1235018 EZH2 c.1991A>G p.D664G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1163570 ATRX c.2536G>A p.D846N Substitution - Missense Pancreas COSM1195337 SETD8 c.677A>C p.K226T Substitution - Missense Lung COSM1162748 BRD9 c.928A>T p.M310L Substitution - Missense Skin COSM1267361 TAF1L c.4835C>A p.A1612D Substitution - Missense Oesophagus COSM1288695 TTF2 c.3245A>G p.H1082R Substitution - Missense Autonomic_ganglia COSM1317224 ASH2L c.171C>T p.S57S Substitution - coding silent Thyroid COSM1406754 HDAC4 c.975G>T p.A325A Substitution - coding silent Large_intestine COSM1341885 PRDM16 c.1884C>T p.D628D Substitution - coding silent Large_intestine COSM1351663 KMT2A c.9863G>T p.R3288I Substitution - Missense Large_intestine COSM1349985 HELLS c.1025C>T p.A342V Substitution - Missense Large_intestine COSM1495071 EYA2 c.60G>C p.L20L Substitution - coding silent Kidney COSM1644509 CREBBP c.4358T>A p.I1453N Substitution - Missense Salivary_gland COSM1677162 YEATS4 c.224G>A p.G75D Substitution - Missense Large_intestine COSM1675362 KAT6B c.2397T>G p.I799M Substitution - Missense Large_intestine COSM1658825 ACTB c.1055_1056insA p.F352fs*12 Insertion - Frameshift Salivary_gland COSM1659581 SETD2 c.5357C>G p.A1786G Substitution - Missense Kidney COSM1717668 KMT2D c.12763G>C p.V4255L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1727114 ARID2 c.1837C>T p.Q613* Substitution - Nonsense Liver COSM1729758 KDM3A c.3215C>G p.P1072R Substitution - Missense Liver COSM1747801 ASH1L c.3809G>A p.R1270Q Substitution - Missense Urinary_tract COSM1731860 PHF12 c.1077C>A p.H359Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1732091 BAP1 c.1441_1442insA p.H481fs*11 Insertion - Frameshift Kidney COSM1746803 HNF1A c.422A>G p.Q141R Substitution - Missense Urinary_tract COSM1936759 BAZ2A_ENST00000379441 c.126C>T p.F42F Substitution - coding silent Skin COSM2265008 MPHOSPH8 c.1286delA p.G431fs*8 Deletion - Frameshift Large_intestine COSM2813802 SMARCA4 c.4333C>T p.R1445W Substitution - Missense Large_intestine COSM3148814 DNMT1 c.906delA p.E303fs*5 Deletion - Frameshift Oesophagus COSM3185389 CAMKMT c.724A>G p.S242G Substitution - Missense Upper_aerodigestive_tract COSM3188388 KAT2A c.1324C>A p.L442M Substitution - Missense Large_intestine COSM3376315 BAZ2A_ENST00000379441 c.4795C>T p.R1599W Substitution - Missense Pancreas COSM3386056 ARID1A c.1568C>A p.S523Y Substitution - Missense Pancreas COSM3488223 PRDM16 c.1726G>A p.E576K Substitution - Missense Skin COSM3500901 BAHD1 c.2055C>T p.P685P Substitution - coding silent Skin COSM3467858 RNF17 c.297G>A p.M99I Substitution - Missense Skin COSM3614516 NSD1 c.6923C>T p.S2308F Substitution - Missense Skin COSM3620818 EYA4 c.1105G>A p.E369K Substitution - Missense Skin COSM3554894 EP300 c.5947G>A p.G1983R Substitution - Missense Skin COSM3692393 MUM1 c.352C>T p.R118W Substitution - Missense Large_intestine COSM3746146 HDGF c.363T>C p.G121G Substitution - coding silent Liver COSM3796443 MBD1 c.1129T>C p.C377R Substitution - Missense Urinary_tract COSM3790924 SFMBT2 c.1224C>T p.F408F Substitution - coding silent Urinary_tract COSM3928930 KMT2C c.2415T>A p.S805R Substitution - Missense Central_nervous_system COSM3830921 PHF3 c.1343C>G p.S448* Substitution - Nonsense Breast COSM3911313 CHD6 c.2210C>T p.T737I Substitution - Missense Skin COSM3890616 CHD3 c.2703T>C p.G901G Substitution - coding silent Skin COSM3945600 PBRM1 c.824C>T p.S275L Substitution - Missense Lung COSM3965369 SMC1A c.3152G>T p.R1051L Substitution - Missense Lung COSM4008813 ORC1 c.602C>T p.S201F Substitution - Missense Stomach COSM4125216 CLOCK c.438+2T>C p.? Unknown Stomach COSM4068921 BPTF c.4478C>T p.A1493V Substitution - Missense Stomach COSM4076210 DOT1L c.494-1G>A p.? Unknown Stomach COSM4055770 PYGO1 c.1117G>T p.G373* Substitution - Nonsense Stomach COSM4135625 ORC1 c.1684C>T p.P562S Substitution - Missense Pancreas COSM4134606 EYA2 c.1160T>G p.V387G Substitution - Missense Upper_aerodigestive_tract COSM4136891 CHD6 c.2253C>G p.I751M Substitution - Missense Ovary COSM4151477 NCOR1 c.1766T>A p.M589K Substitution - Missense Kidney COSM4157025 ATRX c.1928A>G p.E643G Substitution - Missense Thyroid COSM4170106 TET2 c.3811_3812insG p.C1271fs*29 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4383594 DNMT3A c.1011_1013delAGT p.V339delV Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM4406245 SMARCC1 c.1199T>G p.V400G Substitution - Missense Skin COSM4415207 BAZ2A c.52A>G p.R18G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4588865 KIAA2026_ENST00000399933 c.2754T>C p.P918P Substitution - coding silent Bone COSM4582447 TCF20 c.1168A>G p.M390V Substitution - Missense Bone COSM4591258 PHF3 c.236G>T p.C79F Substitution - Missense Upper_aerodigestive_tract COSM4447700 BAHCC1 c.640G>A p.D214N Substitution - Missense Skin COSM4666268 BRWD3 c.623C>A p.A208D Substitution - Missense Large_intestine COSM4671987 CHD3 c.5950G>A p.G1984R Substitution - Missense Large_intestine COSM4689733 HDAC9 c.2344delC p.P783fs*26 Deletion - Frameshift Large_intestine COSM4618543 PRDM13 c.381G>A p.P127P Substitution - coding silent Large_intestine COSM4766086 TET2 c.3996_3997insA p.M1333fs*6 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4758456 KDM3A c.3670C>T p.Q1224* Substitution - Nonsense Stomach COSM4984989 HNF1A c.1460G>A p.S487N Substitution - Missense Soft_tissue COSM4976918 EP300 c.4135C>T p.Q1379* Substitution - Nonsense Oesophagus COSM5005050 ORC1 c.1998G>A p.R666R Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5010790 DNMT3A c.2174-1G>A p.? Unknown Kidney COSM5075566 BAP1 c.1799_1800insAC p.K601fs*17 Insertion - Frameshift Kidney COSM5166042 ATRX c.1036C>G p.L346V Substitution - Missense Large_intestine COSM5224723 KDM4C c.2601delC p.N869fs*2 Deletion - Frameshift Breast COSM5344934 NIPBL c.3888G>A p.W1296* Substitution - Nonsense Large_intestine COSM5404524 SHPRH c.1686T>C p.P562P Substitution - coding silent Skin COSM5504819 MLL5 c.731C>T p.A244V Substitution - Missense Biliary_tract COSM5468272 PHF3 c.4174C>T p.P1392S Substitution - Missense Large_intestine COSM5458928 SP100 c.320A>G p.Y107C Substitution - Missense Large_intestine COSM5457495 KDM5C c.2409G>A p.E803E Substitution - coding silent Large_intestine COSM5641648 DNMT1 c.1063C>A p.Q355K Substitution - Missense Oesophagus COSM5747395 KMT2D c.7250G>A p.R2417Q Substitution - Missense Pancreas COSM5736592 SETD2 c.4994C>A p.P1665Q Substitution - Missense Small_intestine COSM5609412 KMT2A c.8447C>G p.S2816C Substitution - Missense Skin COSM5597927 ZMYM4 c.2062C>T p.Q688* Substitution - Nonsense Skin COSM5696677 KMT2C c.13793A>G p.Y4598C Substitution - Missense Soft_tissue COSM5698683 SUV39H1 c.66G>T p.L22L Substitution - coding silent Soft_tissue COSM5549539 KDM1A c.985G>T p.A329S Substitution - Missense Prostate COSM5773326 BAZ2B c.4712C>T p.T1571I Substitution - Missense Breast COSM5784433 CHD4 c.4466G>A p.R1489H Substitution - Missense Breast COSM5879081 EZH2 c.2029+1G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5945626 PHF6 c.877G>A p.E293K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5946380 PRDM1 c.1619A>G p.E540G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5919504 CHD7 c.3419C>T p.T1140I Substitution - Missense Skin COSM5893939 PHF23 c.481C>T p.P161S Substitution - Missense Skin COSM5922860 TRDMT1 c.985G>A p.E329K Substitution - Missense Skin COSM5946016 KMT2D c.8458G>C p.E2820Q Substitution - Missense Urinary_tract COSM5964185 KAT6B c.1029A>G p.G343G Substitution - coding silent Breast COSM5986474 ATRX c.4511G>T p.R1504L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6014828 APOBEC1 c.108C>T p.A36A Substitution - coding silent Skin COSM6018268 EP300 c.2661A>C p.T887T Substitution - coding silent Skin COSM5970390 RSF1 c.2901A>G p.R967R Substitution - coding silent Upper_aerodigestive_tract COSM5006581 PBRM1 c.?ins? p.?fs*? Insertion - Frameshift Kidney COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM1583053 EZH2 c.? p.S380* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3738503 TET2 c.? p.P409fs*33 Frameshift Haematopoietic_and_lymphoid_tissue COSM1096253 PHF20L1 c.376C>T p.R126C Substitution - Missense Endometrium COSM5766182 ATRX c.6226A>T p.K2076* Substitution - Nonsense Central_nervous_system COSM4532427 MPHOSPH8 c.1881G>A p.V627V Substitution - coding silent Skin COSM422741 BAP1 c.889G>T p.E297* Substitution - Nonsense Kidney COSM5506095 ZCWPW2 c.530delG p.S177fs*67 Deletion - Frameshift Biliary_tract COSM745601 HDAC9 c.1801G>C p.D601H Substitution - Missense Large_intestine COSM4079972 UHRF1 c.2150C>T p.P717L Substitution - Missense Stomach COSM1610770 ZBTB4 c.454G>T p.G152C Substitution - Missense Liver COSM3174079 EYA4 c.375T>A p.I125I Substitution - coding silent Large_intestine COSM1460306 SET c.533G>A p.S178N Substitution - Missense Large_intestine COSM1343978 PHF13 c.731G>A p.R244H Substitution - Missense Large_intestine COSM1480652 MUM1 c.1378C>T p.L460F Substitution - Missense Breast COSM939218 KDM5A c.2946G>T p.K982N Substitution - Missense Endometrium COSM4489253 WHSC1 c.3451C>T p.L1151F Substitution - Missense Skin COSM5742887 BAZ2B c.2763_2764insA p.Q922fs*8 Insertion - Frameshift Small_intestine COSM211690 TET2 c.2422_2422delG p.E808fs*5 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1216535 KAT6B c.3409C>T p.R1137C Substitution - Missense Large_intestine COSM4721048 RERE c.2897delC p.P966fs*4 Deletion - Frameshift Large_intestine COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Soft_tissue COSM430521 HNF1A c.51C>G p.L17L Substitution - coding silent Liver COSM3730496 KAT6B c.4632C>T p.A1544A Substitution - coding silent Stomach COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Soft_tissue COSM5814728 ASXL1 c.1253C>G p.T418S Substitution - Missense Liver COSM4005987 NSD1 c.6782T>C p.M2261T Substitution - Missense Urinary_tract COSM5465781 PHC3 c.2605C>T p.R869W Substitution - Missense Large_intestine COSM937138 EP400 c.869G>T p.R290L Substitution - Missense Endometrium COSM467511 EED c.397C>T p.R133W Substitution - Missense Kidney COSM3521214 BPTF c.6308C>T p.S2103F Substitution - Missense Skin COSM1485237 SETD2 c.6032_6033insA p.H2011fs*6 Insertion - Frameshift Breast COSM3724481 ARID2 c.5333_5333delA p.N1778fs*13 Deletion - Frameshift Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM382573 KIAA2026_ENST00000399933 c.1692A>T p.G564G Substitution - coding silent Lung COSM2178827 TTF2 c.2110C>T p.P704S Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM1476781 MBD6 c.2236+1G>C p.? Unknown Breast COSM3551332 AIRE c.393G>A p.K131K Substitution - coding silent Skin COSM420624 WHSC1 c.2628G>A p.K876K Substitution - coding silent Urinary_tract COSM387733 HDAC9 c.1551G>A p.A517A Substitution - coding silent Lung COSM5647807 CHD4 c.4957A>G p.T1653A Substitution - Missense Oesophagus COSM4876369 SMARCD2 c.229C>T p.R77W Substitution - Missense Prostate COSM280816 EP400 c.3560G>A p.R1187H Substitution - Missense Large_intestine COSM3981477 BAHD1 c.1341T>C p.N447N Substitution - coding silent Ovary COSM228923 SETD2 c.4859A>G p.K1620R Substitution - Missense Skin COSM220521 EP300 c.4399T>A p.Y1467N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4064374 RAI1 c.5659+2T>C p.? Unknown Stomach COSM436127 SMYD4 c.832C>G p.H278D Substitution - Missense Breast COSM87141 TET2 c.3954+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4914449 CHD2 c.1898T>C p.L633P Substitution - Missense Liver COSM1711332 MBD1 c.233C>T p.P78L Substitution - Missense Skin COSM1428810 ING2 c.679G>A p.G227R Substitution - Missense Large_intestine COSM5752506 SMARCA4 c.4619_4635+8del25 p.? Unknown Breast COSM3901353 NCOA2 c.442A>C p.R148R Substitution - coding silent Stomach COSM1602220 RBBP4 c.481C>G p.P161A Substitution - Missense Liver COSM3750192 PHF2 c.2964G>T p.P988P Substitution - coding silent Lung COSM5974397 EP300 c.4398G>T p.W1466C Substitution - Missense Upper_aerodigestive_tract COSM5725896 KIAA2026_ENST00000399933 c.329C>T p.T110I Substitution - Missense Skin COSM4765104 ARID1A c.3373_3374insA p.S1126fs*67 Insertion - Frameshift Stomach COSM1333902 SETDB1 c.3767G>A p.R1256Q Substitution - Missense Large_intestine COSM4092245 SP110 c.30G>T p.E10D Substitution - Missense Stomach COSM1675372 KAT6B c.6018C>A p.Y2006* Substitution - Nonsense Lung COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM21190 TAF1 c.1951G>A p.E651K Substitution - Missense Skin COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1467014 RBBP7 c.1015C>A p.R339S Substitution - Missense Large_intestine COSM3883766 TRRAP c.9053T>A p.I3018N Substitution - Missense Stomach COSM4515361 KDM6B c.1065_1066CC>TT p.P356S Substitution - Missense Skin COSM909897 KDM4A c.1790G>A p.R597H Substitution - Missense Endometrium COSM4958210 EP300 c.2109G>A p.M703I Substitution - Missense Liver COSM5879053 TET2 c.5896C>T p.R1966C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1462673 UHRF2 c.695G>A p.R232Q Substitution - Missense Large_intestine COSM4041497 PRMT8 c.655G>A p.A219T Substitution - Missense Stomach COSM1309381 ACTR8 c.1443G>T p.L481L Substitution - coding silent Urinary_tract COSM3712779 SMARCA4 c.223-1G>T p.? Unknown Upper_aerodigestive_tract COSM1320700 TDRD5 c.1885G>A p.D629N Substitution - Missense Ovary COSM5469926 EP400 c.2515C>T p.R839W Substitution - Missense Large_intestine COSM975875 NCOR1 c.3930T>C p.D1310D Substitution - coding silent Endometrium COSM4390713 MGA c.7477G>A p.E2493K Substitution - Missense Breast COSM4702472 KMT2C c.14344-3_14344-2insT p.? Unknown Large_intestine COSM1679018 SRCAP c.4033C>T p.R1345C Substitution - Missense Central_nervous_system COSM4694039 KAT2A c.1528C>T p.P510S Substitution - Missense Large_intestine COSM4836675 KMT2A c.6254G>A p.S2085N Substitution - Missense Cervix COSM1479264 NCOR1 c.6705C>G p.I2235M Substitution - Missense Breast COSM30420 SETD2 c.2028C>T p.D676D Substitution - coding silent Skin COSM5435872 GATAD2B c.430G>C p.E144Q Substitution - Missense Oesophagus COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Central_nervous_system COSM920701 TAF3 c.1222G>A p.E408K Substitution - Missense Large_intestine COSM5019633 KMT2D c.15168T>G p.L5056L Substitution - coding silent Soft_tissue COSM5974383 CBX6 c.459C>T p.F153F Substitution - coding silent Upper_aerodigestive_tract COSM133576 ASXL1 c.2332C>T p.Q778* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3637089 HDAC9 c.3063G>A p.R1021R Substitution - coding silent Skin COSM4042393 KMT2D c.4225G>T p.E1409* Substitution - Nonsense Stomach COSM43424 TET2 c.3725A>T p.D1242V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3840821 NCOA6 c.1035G>A p.K345K Substitution - coding silent Breast COSM740187 L3MBTL3 c.1999C>T p.Q667* Substitution - Nonsense Lung COSM1664676 TRIM24 c.475T>A p.S159T Substitution - Missense Kidney COSM4994777 MBTD1 c.920G>A p.R307K Substitution - Missense Large_intestine COSM5599939 KMT2D c.1855C>T p.P619S Substitution - Missense Skin COSM2067837 ARID2 c.2809C>T p.Q937* Substitution - Nonsense Biliary_tract COSM135876 NCOA6 c.1390C>T p.P464S Substitution - Missense Upper_aerodigestive_tract COSM3568274 BAZ2B c.299C>T p.A100V Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3461793 SMARCD1 c.207C>T p.I69I Substitution - coding silent Skin COSM5929456 SIRT4 c.793-7C>T p.? Unknown Skin COSM4575581 SMARCC2 c.2301T>C p.D767D Substitution - coding silent Bone COSM1713604 ZMYND8 c.2329_2330CC>TT p.P777F Substitution - Missense Skin COSM4427469 TET2 c.1925A>G p.Q642R Substitution - Missense Oesophagus COSM52011 TET2 c.? p.S282F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5568788 ERCC6 c.2160C>G p.S720S Substitution - coding silent Prostate COSM3734212 SFMBT1 c.752T>A p.V251E Substitution - Missense Pancreas COSM5459494 HCFC1 c.1268G>A p.G423E Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM312282 KIAA1045 c.103C>A p.R35R Substitution - coding silent Lung COSM485103 KMT2C c.966C>T p.H322H Substitution - coding silent Kidney COSM913371 MTF2 c.1656T>C p.I552I Substitution - coding silent Endometrium COSM1249109 CREBBP c.4209C>T p.D1403D Substitution - coding silent Large_intestine COSM1360186 EP400 c.8178A>G p.Q2726Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1038080 MBD4 c.1048G>A p.D350N Substitution - Missense Endometrium COSM5745794 RBBP5 c.851G>A p.G284D Substitution - Missense Pancreas COSM5897958 NCOR1 c.3943C>T p.P1315S Substitution - Missense Skin COSM5974878 ACTR8 c.193G>A p.D65N Substitution - Missense Upper_aerodigestive_tract COSM5019947 KMT2C c.1025C>T p.A342V Substitution - Missense Soft_tissue COSM5695009 AICDA c.218G>A p.G73D Substitution - Missense Soft_tissue COSM4072912 L3MBTL4 c.1200-1G>T p.? Unknown Stomach COSM1169216 IDH1 c.394_395CG>TC p.R132S Substitution - Missense Central_nervous_system COSM1041695 FXR1 c.829G>A p.G277S Substitution - Missense Endometrium COSM4385076 ASXL1 c.1861G>T p.A621S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM393089 AICDA c.511C>T p.R171C Substitution - Missense Skin COSM5784861 BRWD1 c.3760A>G p.T1254A Substitution - Missense Breast COSM449594 NIPBL c.3923C>T p.A1308V Substitution - Missense Stomach COSM1629913 BRD7 c.1365T>G p.Y455* Substitution - Nonsense Prostate COSM1085204 SND1 c.2240G>A p.R747H Substitution - Missense Endometrium COSM394079 GLYATL1 c.649T>A p.W217R Substitution - Missense Lung COSM1757271 KDM6A c.3293T>A p.L1098* Substitution - Nonsense Urinary_tract COSM4888300 BRD1 c.1234C>T p.R412* Substitution - Nonsense Upper_aerodigestive_tract COSM5453039 SMARCD3 c.943C>T p.R315C Substitution - Missense Large_intestine COSM3940734 PHF17 c.1396C>T p.L466L Substitution - coding silent Oesophagus COSM52799 PBRM1 c.204_205delCT p.C69fs*1 Deletion - Frameshift Kidney COSM1668244 TDRD5 c.1484C>T p.S495L Substitution - Missense Skin COSM5945070 TET2 c.5588C>T p.A1863V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5562143 KMT2D c.8624C>T p.P2875L Substitution - Missense Prostate COSM1083 SMARCB1 c.?_?del? p.?del Deletion - In frame Central_nervous_system COSM1665970 PHC2 c.1758+2T>A p.? Unknown Kidney COSM1299011 HNF1A c.1332G>C p.Q444H Substitution - Missense Urinary_tract COSM1601864 ACTA1 c.406G>A p.V136M Substitution - Missense Liver COSM6002022 BRD7 c.49G>T p.E17* Substitution - Nonsense Prostate COSM6015278 RNF17 c.294A>G p.I98M Substitution - Missense Skin COSM5982785 KDM4A c.1057T>C p.F353L Substitution - Missense Upper_aerodigestive_tract COSM3987927 BAHD1 c.479C>A p.A160D Substitution - Missense Kidney COSM423083 PBRM1 c.2091_2101del11 p.Y697fs*1 Deletion - Frameshift Kidney COSM5700079 KMT2C c.3842-1G>T p.? Unknown Soft_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5570113 KDM2B c.610A>C p.T204P Substitution - Missense Prostate COSM955464 BAZ1A c.2467C>T p.L823F Substitution - Missense Endometrium COSM5405993 ZCWPW1 c.889G>A p.D297N Substitution - Missense Skin COSM4946385 SMCHD1 c.3866A>C p.D1289A Substitution - Missense Liver COSM124344 MBD1 c.1409C>T p.P470L Substitution - Missense Upper_aerodigestive_tract COSM1122975 KDM5C c.276C>A p.F92L Substitution - Missense Endometrium COSM198796 PHF2 c.1468delA p.K492fs*6 Deletion - Frameshift Large_intestine COSM3813407 ING1 c.247G>C p.E83Q Substitution - Missense Breast COSM4054558 MGA c.2846A>C p.N949T Substitution - Missense Stomach COSM3808477 KMT2A c.3733A>C p.T1245P Substitution - Missense Breast COSM961361 INOC1 c.2040C>T p.T680T Substitution - coding silent Endometrium COSM4163285 PHF19 c.407A>C p.D136A Substitution - Missense Upper_aerodigestive_tract COSM5599937 KMT2D c.9532C>T p.P3178S Substitution - Missense Skin COSM1600774 SETDB1 c.3759-18_3759-2del17 p.? Unknown Liver COSM5006566 PBRM1 c.?_?del? p.?fs*? Deletion - Frameshift Kidney COSM5342556 INOC1 c.4291C>T p.R1431* Substitution - Nonsense Large_intestine COSM3766017 RAI1 c.1992G>A p.P664P Substitution - coding silent Thyroid COSM3596050 PHF7 c.949C>T p.P317S Substitution - Missense Skin COSM4044285 CHD4 c.5272T>C p.Y1758H Substitution - Missense Stomach COSM4616348 HDAC9 c.1760C>T p.A587V Substitution - Missense Large_intestine COSM4610404 TRRAP c.3103C>T p.R1035W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3733336 KMT2C c.2263C>T p.Q755* Substitution - Nonsense Endometrium COSM120167 TET2 c.2362G>T p.E788* Substitution - Nonsense Kidney COSM488058 FMR1 c.801G>T p.E267D Substitution - Missense Kidney COSM2996489 PRMT7 c.1173C>T p.Y391Y Substitution - coding silent Biliary_tract COSM5479470 HDGFL1 c.693C>T p.D231D Substitution - coding silent Large_intestine COSM4713953 PHF17 c.82C>T p.R28* Substitution - Nonsense Large_intestine COSM3438387 ERCC6 c.1834C>T p.R612* Substitution - Nonsense Skin COSM3842809 TCF20 c.3929C>G p.S1310C Substitution - Missense Breast COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM970608 CREBBP c.1585A>G p.M529V Substitution - Missense Endometrium COSM4577339 SCMH1 c.234A>G p.P78P Substitution - coding silent Bone COSM4015112 JMJD1C c.3523A>G p.T1175A Substitution - Missense Stomach COSM3650733 EYA1 c.581G>A p.G194E Substitution - Missense Skin COSM4584093 MECOM c.2855A>G p.Y952C Substitution - Missense Bone COSM1436896 PRDM9 c.2665G>A p.V889I Substitution - Missense Large_intestine COSM1629542 MGA c.8835T>G p.S2945S Substitution - coding silent Liver COSM124648 MYST1 c.811C>G p.L271V Substitution - Missense Upper_aerodigestive_tract COSM1158244 SUV420H1 c.2333A>G p.K778R Substitution - Missense Pancreas COSM3583817 KDM3A c.1433C>T p.A478V Substitution - Missense Skin COSM987413 AP001011.3_ENST00000320876 c.2971A>G p.S991G Substitution - Missense Endometrium COSM3834875 CHD7 c.7328A>C p.D2443A Substitution - Missense Breast COSM2889542 DNMT3B c.1155C>T p.D385D Substitution - coding silent Large_intestine COSM96420 EP300 c.5038C>T p.R1680C Substitution - Missense Large_intestine COSM2834962 CHD9 c.8574A>G p.G2858G Substitution - coding silent Large_intestine COSM217004 HNF1A c.339_342delGCGT p.R114fs*40 Deletion - Frameshift Liver COSM3841016 CHD6 c.8026G>A p.E2676K Substitution - Missense Breast COSM87148 TET2 c.4044+2_4044+3insT p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4447112 SFMBT2 c.1809-3T>C p.? Unknown Skin COSM3899973 WHSC1L1 c.84C>T p.I28I Substitution - coding silent Stomach COSM1462638 KIAA2026_ENST00000399933 c.5294C>T p.S1765L Substitution - Missense Skin COSM4446178 HDAC9 c.1910-3A>C p.? Unknown Skin COSM4510184 INOC1 c.829C>T p.R277C Substitution - Missense Skin COSM5441791 ATAD2 c.1320G>C p.E440D Substitution - Missense Oesophagus COSM4586804 TDRD6 c.2403A>C p.L801L Substitution - coding silent Bone COSM52947 IDH2 c.? p.R172? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4554880 BAP1 c.634G>A p.E212K Substitution - Missense Skin COSM5741336 DOT1L c.1664G>A p.G555D Substitution - Missense Small_intestine COSM238566 BAP1 c.680G>A p.R227H Substitution - Missense Lung COSM4791122 PRDM9 c.2652G>C p.G884G Substitution - coding silent Liver COSM5944293 TET2 c.4791delC p.Y1598fs*12 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM325655 L3MBTL3 c.2171A>T p.E724V Substitution - Missense Lung COSM79641 CHD7 c.3237C>T p.A1079A Substitution - coding silent Ovary COSM5738868 EPC1 c.1999G>T p.E667* Substitution - Nonsense Small_intestine COSM3934134 LMNA c.1067T>A p.L356Q Substitution - Missense Oesophagus COSM2968185 SMC1A c.1277G>A p.R426Q Substitution - Missense Stomach COSM5394458 MBD5 c.2537C>T p.S846F Substitution - Missense Skin COSM4119256 SFMBT1 c.639T>A p.D213E Substitution - Missense Stomach COSM5836638 TRDMT1 c.232C>T p.P78S Substitution - Missense Skin COSM322031 NIPBL c.611-1G>T p.? Unknown Lung COSM1067072 PRDM9 c.836G>A p.R279Q Substitution - Missense Skin COSM6015209 SETD1B c.1718C>T p.S573L Substitution - Missense Skin COSM96452 CREBBP c.? p.G1069S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1632630 TCF20 c.5531A>C p.E1844A Substitution - Missense Liver COSM1027974 ADNP c.1030G>A p.G344S Substitution - Missense Endometrium COSM3715049 NSD1 c.5431C>T p.R1811* Substitution - Nonsense Upper_aerodigestive_tract COSM311247 FMR1 c.74A>T p.E25V Substitution - Missense Lung COSM96347 ASXL1 c.? p.G646fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM1473880 PHC2 c.2011G>T p.V671L Substitution - Missense Breast COSM5755479 SUV420H2 c.1331T>C p.L444P Substitution - Missense Large_intestine COSM5185342 KDM4B c.2220G>A p.T740T Substitution - coding silent Large_intestine COSM1221423 POGZ c.3530G>A p.R1177K Substitution - Missense Large_intestine COSM1644067 TAF1 c.4450-3C>G p.? Unknown Stomach COSM3432438 MYST3 c.932G>A p.R311Q Substitution - Missense Large_intestine COSM13394 MSH6 c.3261_3262insC p.F1088fs*5 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4059617 JMJD5 c.785A>G p.Y262C Substitution - Missense Stomach COSM1233068 YY1 c.1124G>A p.R375Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM26570 KMT2C c.11323G>T p.E3775* Substitution - Nonsense Central_nervous_system COSM2777622 KIAA2026_ENST00000399933 c.978C>T p.Y326Y Substitution - coding silent Large_intestine COSM4440603 DIDO1 c.6101delC p.P2034fs*>207 Deletion - Frameshift Large_intestine COSM4895541 SMYD4 c.2214T>C p.V738V Substitution - coding silent Skin COSM1388722 SETBP1 c.2959C>T p.R987W Substitution - Missense Skin COSM4100229 DIDO1 c.219C>T p.R73R Substitution - coding silent Stomach COSM3296128 MBD5 c.1326C>A p.P442P Substitution - coding silent Upper_aerodigestive_tract COSM1243414 MUM1 c.43C>T p.R15* Substitution - Nonsense Oesophagus COSM144558 DNMT3A c.(1740_1743)insC p.W581fs*31 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4073744 DNMT1 c.3739C>T p.L1247L Substitution - coding silent Stomach COSM4765109 ARID1A c.6747_6748insA p.E2250fs*28 Insertion - Frameshift Stomach COSM484380 PHIP c.1920C>T p.I640I Substitution - coding silent Kidney COSM1412150 NCOA5 c.1275delC p.T426fs*19 Deletion - Frameshift Large_intestine COSM4094439 MSH6 c.2603T>C p.M868T Substitution - Missense Stomach COSM1621518 PHF1 c.568T>G p.Y190D Substitution - Missense Liver COSM3875671 PHIP c.3256G>A p.E1086K Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5556396 ING5 c.638A>G p.H213R Substitution - Missense Prostate COSM4821061 L3MBTL3 c.1161C>A p.F387L Substitution - Missense Cervix COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1095764 ATAD2 c.1649C>A p.S550Y Substitution - Missense Endometrium COSM4774832 KMT2C c.2153A>C p.E718A Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5716097 GTF3C4 c.1360T>A p.F454I Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5905910 KMT2D c.9131C>T p.S3044F Substitution - Missense Skin COSM1727593 RERE c.1851delC p.S618fs*12 Deletion - Frameshift Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1638978 RSF1 c.1980T>C p.S660S Substitution - coding silent Stomach COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5443708 BAHCC1 c.7481C>T p.S2494L Substitution - Missense Oesophagus COSM1412226 EYA2 c.1113C>T p.H371H Substitution - coding silent Stomach COSM166748 PRDM9 c.2295A>T p.R765S Substitution - Missense Breast COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3736164 HDAC5 c.1779C>G p.D593E Substitution - Missense Large_intestine COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM480367 PBRM1 c.2128C>T p.R710* Substitution - Nonsense Large_intestine COSM4762565 SETDB1 c.1181G>A p.R394Q Substitution - Missense Stomach COSM473994 L3MBTL4 c.128T>C p.V43A Substitution - Missense Kidney COSM5406893 EZH2 c.275C>T p.P92L Substitution - Missense Skin COSM221269 EP300 c.1244T>C p.L415P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5546648 PHF6 c.716A>G p.H239R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM71797 NCOA3 c.1696G>T p.D566Y Substitution - Missense Ovary COSM1169694 TET2 c.? p.Q323* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3358538 PBRM1 c.1824_1825delTA p.Y608fs*1 Deletion - Frameshift Kidney COSM3397153 ERCC6 c.2139G>A p.M713I Substitution - Missense Central_nervous_system COSM1669317 BAZ2B c.3544A>G p.I1182V Substitution - Missense Prostate COSM5581822 NCOA6 c.1171C>T p.P391S Substitution - Missense Skin COSM6009014 ASXL1 c.? p.Y700? Unknown Haematopoietic_and_lymphoid_tissue COSM5019110 MECOM c.2472G>A p.S824S Substitution - coding silent Soft_tissue COSM4767756 KMT2A c.9933C>A p.A3311A Substitution - coding silent Biliary_tract COSM1605652 SIRT4 c.792+3A>G p.? Unknown Liver COSM42070 TET2 c.5650A>G p.T1884A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24924 HNF1A c.1340C>T p.P447L Substitution - Missense Liver COSM1312085 PHF1 c.1476G>C p.S492S Substitution - coding silent Urinary_tract COSM445072 TCF20 c.2014_2016delAAC p.N672delN Deletion - In frame Breast COSM1368985 CHD8 c.5267A>C p.Y1756S Substitution - Missense Large_intestine COSM5471506 HDAC4 c.2789C>T p.S930L Substitution - Missense Large_intestine COSM32496 NIPBL c.4939G>A p.E1647K Substitution - Missense Breast COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM22580 MEN1 c.373_374delAT p.I125fs*54 Deletion - Frameshift Pancreas COSM34211 ASXL1 c.2285_2286insT p.L762fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41645 TET2 c.3157C>T p.Q1053* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51418 ARID1A c.5164C>T p.R1722* Substitution - Nonsense Small_intestine COSM51986 BAP1 c.144_144delC p.L49fs*23 Deletion - Frameshift Eye COSM97032 ASXL1 c.2061_2061delT p.C687fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM116604 PRDM9 c.2058C>G p.H686Q Substitution - Missense Ovary COSM159748 CARM1 c.636G>A p.A212A Substitution - coding silent Breast COSM194437 CTCF c.1480C>T p.R494C Substitution - Missense Pancreas COSM232858 NCOA6 c.4502C>T p.P1501L Substitution - Missense Skin COSM251401 ARID1A c.1210C>T p.Q404* Substitution - Nonsense Liver COSM262920 PHF3 c.4042C>T p.R1348C Substitution - Missense Large_intestine COSM314121 PHF21B c.1510C>G p.P504A Substitution - Missense Lung COSM326779 TRRAP c.3070G>T p.G1024C Substitution - Missense Large_intestine COSM317036 ATRX c.4250G>T p.R1417L Substitution - Missense Lung COSM343390 PCGF6 c.639C>G p.F213L Substitution - Missense Lung COSM423661 PRDM2 c.1887G>A p.L629L Substitution - coding silent Breast COSM422188 HCFC1 c.826G>A p.A276T Substitution - Missense Urinary_tract COSM456574 MSL3 c.223G>A p.D75N Substitution - Missense Breast COSM456778 PHF6 c.982A>T p.N328Y Substitution - Missense Breast COSM464497 ZMYM4 c.3651G>A p.W1217* Substitution - Nonsense Kidney COSM979593 EZH1 c.2211C>T p.Y737Y Substitution - coding silent Endometrium COSM987415 SMCHD1 c.1315A>G p.S439G Substitution - Missense Endometrium COSM484586 MLL5 c.5037A>C p.P1679P Substitution - coding silent Thyroid COSM480314 PBRM1 c.3861A>C p.E1287D Substitution - Missense Kidney COSM553342 ARID4A c.1684G>A p.E562K Substitution - Missense Urinary_tract COSM914346 ASXL1 c.1935_1936insT p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM694957 MBD6 c.2085C>T p.P695P Substitution - coding silent Lung COSM1049129 BRPF1 c.1457C>T p.A486V Substitution - Missense Endometrium COSM937173 EP400 c.6046A>G p.M2016V Substitution - Missense Endometrium COSM1019177 NCOA1 c.3797C>A p.S1266Y Substitution - Missense Endometrium COSM919513 JMJD1C c.612A>G p.G204G Substitution - coding silent Endometrium COSM919519 JMJD1C c.361A>C p.N121H Substitution - Missense Endometrium COSM699902 INOC1 c.3518T>G p.L1173R Substitution - Missense Lung COSM703038 CREBBP c.6943A>T p.S2315C Substitution - Missense Lung COSM947876 SETDB2 c.1268A>C p.K423T Substitution - Missense Endometrium COSM970554 CREBBP c.5124C>T p.N1708N Substitution - coding silent Endometrium COSM1078493 BRPF3 c.3558G>A p.A1186A Substitution - coding silent Oesophagus COSM1124818 ZMYM3 c.699G>A p.K233K Substitution - coding silent Endometrium COSM1105705 SET c.274+2T>C p.? Unknown Endometrium COSM1239817 PHC2 c.2079G>A p.A693A Substitution - coding silent Oesophagus COSM1230641 TRRAP c.5786G>A p.R1929Q Substitution - Missense Large_intestine COSM1162748 BRD9 c.928A>T p.M310L Substitution - Missense Thyroid COSM1162748 BRD9 c.928A>T p.M310L Substitution - Missense Thyroid COSM1205878 EYA2 c.728G>T p.R243L Substitution - Missense Large_intestine COSM1205879 EYA2 c.749G>A p.R250Q Substitution - Missense Prostate COSM1225438 SFMBT2 c.1850G>A p.R617Q Substitution - Missense Large_intestine COSM1169649 PBRM1 c.3625_3626insA p.M1209fs*11 Insertion - Frameshift Kidney COSM1603740 KAT6B c.2264T>G p.L755R Substitution - Missense Liver COSM1606146 ARID2 c.4508delT p.R1504fs*12 Deletion - Frameshift Liver COSM1296338 ZMYM1 c.1833C>T p.F611F Substitution - coding silent Urinary_tract COSM1331836 HDAC6 c.2272G>A p.G758S Substitution - Missense Ovary COSM1406114 SP140_ENST00000392045 c.2007_2008insA p.R673fs*9 Insertion - Frameshift Pancreas COSM1427429 PRMT10 c.2092A>C p.M698L Substitution - Missense Large_intestine COSM1457728 CHD7 c.4775G>A p.R1592Q Substitution - Missense Large_intestine COSM1339920 ACTA1 c.82G>A p.A28T Substitution - Missense Large_intestine COSM1578427 PHF2 c.2963_2964ins15 p.T996_S997insTPAST Insertion - In frame Lung COSM1580618 BRD4 c.652G>C p.V218L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1638574 ERCC6 c.2316G>T p.Q772H Substitution - Missense Stomach COSM1676100 MTA2 c.311G>A p.G104E Substitution - Missense Large_intestine COSM1644803 MYST3 c.5735A>G p.N1912S Substitution - Missense Salivary_gland COSM1716705 ATRX c.4749_4752delGAAA p.K1583fs*22 Deletion - Frameshift Central_nervous_system COSM1709086 SETD1A c.196C>T p.H66Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2239714 PHF13 c.213C>T p.D71D Substitution - coding silent Oesophagus COSM2848365 GABRG1 c.1304G>A p.R435H Substitution - Missense Large_intestine COSM2874669 NCOA2 c.241C>T p.R81C Substitution - Missense Urinary_tract COSM3153276 L3MBTL2 c.1393delG p.S468fs*73 Deletion - Frameshift Biliary_tract COSM3255864 PHF14 c.2047T>C p.W683R Substitution - Missense Large_intestine COSM3489643 SCMH1 c.521C>T p.P174L Substitution - Missense Skin COSM3508383 CCDC101 c.669C>T p.D223D Substitution - coding silent Skin COSM3444001 KMT2A c.8741C>T p.S2914F Substitution - Missense Skin COSM3636469 KMT2C c.12061C>T p.L4021L Substitution - coding silent Skin COSM3619187 PRDM1 c.1087C>T p.P363S Substitution - Missense Skin COSM3596180 PBRM1 c.3189T>A p.Y1063* Substitution - Nonsense Skin COSM3547344 EYA2 c.1402C>T p.P468S Substitution - Missense Skin COSM3568266 BAZ2B c.2242C>T p.P748S Substitution - Missense Skin COSM3519937 AKAP1 c.1574C>T p.S525L Substitution - Missense Oesophagus COSM3523240 CBX4 c.1371C>T p.L457L Substitution - coding silent Skin COSM3698818 ATAD2 c.463C>T p.R155C Substitution - Missense Oesophagus COSM3670278 SCML2 c.774C>T p.S258S Substitution - coding silent Central_nervous_system COSM3739701 KMT2D c.12051C>T p.P4017P Substitution - coding silent Liver COSM3745078 HDGFL1 c.415G>A p.E139K Substitution - Missense Liver COSM3759544 ATRX c.2785C>G p.Q929E Substitution - Missense Large_intestine COSM3770485 RAI1 c.3731_3733delGCA p.S1249delS Deletion - In frame Soft_tissue COSM3812829 CHD4 c.3941G>A p.W1314* Substitution - Nonsense Breast COSM3854563 PRDM9 c.409G>A p.A137T Substitution - Missense Stomach COSM3942072 JHDM1D c.2562G>A p.Q854Q Substitution - coding silent Oesophagus COSM3845077 PHF8 c.2728G>A p.D910N Substitution - Missense Breast COSM3840726 ASXL1 c.1320A>G p.K440K Substitution - coding silent Breast COSM3944549 CDY1B c.1649A>T p.Q550L Substitution - Missense Lung COSM4031532 PRDM16 c.1630G>A p.D544N Substitution - Missense Stomach COSM4124002 WHSC1 c.2038C>T p.L680L Substitution - coding silent Stomach COSM4065387 SUZ12 c.994G>A p.A332T Substitution - Missense Stomach COSM4156326 L3MBTL2 c.905T>G p.V302G Substitution - Missense Oesophagus COSM4383965 TET2 c.5374C>T p.H1792Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384604 KMT2A c.7128G>C p.R2376S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4396732 RAG2 c.1471C>T p.P491S Substitution - Missense Skin COSM4391273 TAF1 c.85G>A p.D29N Substitution - Missense Breast COSM4431373 SETD2 c.3955C>T p.P1319S Substitution - Missense Oesophagus COSM4578876 GTF3C1 c.3172G>A p.V1058I Substitution - Missense Bone COSM4482448 BAZ2B c.2608C>T p.P870S Substitution - Missense Skin COSM4478589 ATAD2B_ENST00000238789 c.2250C>T p.P750P Substitution - coding silent Skin COSM4466259 KDM6B c.1423C>T p.R475C Substitution - Missense Skin COSM4663703 ASH1L c.3844A>G p.R1282G Substitution - Missense Large_intestine COSM4706984 NIPBL c.5295G>A p.P1765P Substitution - coding silent Large_intestine COSM4672066 CHD6 c.6379A>G p.T2127A Substitution - Missense Large_intestine COSM4694994 KDM5A c.3044G>C p.S1015T Substitution - Missense Large_intestine COSM4767451 KMT2C c.2769+5G>T p.? Unknown Biliary_tract COSM4623705 BAHCC1 c.5704C>A p.L1902M Substitution - Missense Large_intestine COSM4758942 KDM4D c.1219C>A p.R407S Substitution - Missense Stomach COSM4799544 PRDM4 c.705G>A p.L235L Substitution - coding silent Liver COSM4778138 BPTF c.4867T>C p.S1623P Substitution - Missense Prostate COSM4801850 SMARCC2 c.2518G>A p.E840K Substitution - Missense Liver COSM4789763 TDRD10 c.517G>A p.V173M Substitution - Missense Liver COSM4884169 WHSC1 c.2446C>G p.H816D Substitution - Missense Upper_aerodigestive_tract COSM4885677 PHF8 c.455G>T p.G152V Substitution - Missense Upper_aerodigestive_tract COSM4891263 EHMT1 c.3572C>T p.P1191L Substitution - Missense Upper_aerodigestive_tract COSM4940885 PRDM13 c.2028T>C p.P676P Substitution - coding silent Liver COSM4941199 CHD4 c.4604C>T p.S1535L Substitution - Missense Liver COSM4904934 ASH1L c.1947C>T p.S649S Substitution - coding silent Skin COSM4935246 JHDM1D c.156G>C p.M52I Substitution - Missense Liver COSM4920747 BRPF1 c.465G>A p.E155E Substitution - coding silent Liver COSM4933493 BAZ1B c.694A>G p.I232V Substitution - Missense Liver COSM4880289 EP400 c.2413G>A p.V805I Substitution - Missense Stomach COSM4850037 PRDM16 c.2754G>A p.S918S Substitution - coding silent Cervix COSM4825583 CHD7 c.3232C>T p.H1078Y Substitution - Missense Cervix COSM4949758 TAF1L c.2059C>A p.P687T Substitution - Missense Liver COSM4973096 SMARCA4 c.112T>C p.S38P Substitution - Missense Oesophagus COSM4970430 KDM4A c.897C>T p.Y299Y Substitution - coding silent Central_nervous_system COSM5019894 SMARCA4 c.4053C>T p.D1351D Substitution - coding silent Soft_tissue COSM5013273 L3MBTL4 c.96G>C p.K32N Substitution - Missense Kidney COSM5094976 MGA c.2397T>G p.F799L Substitution - Missense Thymus COSM5045229 KMT2D c.14414G>A p.G4805E Substitution - Missense Oesophagus COSM5387560 CHD3 c.2368G>A p.V790M Substitution - Missense Skin COSM5470753 ZBTB4 c.1932C>G p.D644E Substitution - Missense Large_intestine COSM5484738 KDM3B c.2807C>T p.A936V Substitution - Missense Large_intestine COSM5430613 PRDM8 c.529C>T p.R177C Substitution - Missense Oesophagus COSM5455564 KMT2C c.1984G>A p.V662M Substitution - Missense Large_intestine COSM5759547 SETD1A c.3809C>T p.A1270V Substitution - Missense Bone COSM5735381 ZMYM4 c.3163G>A p.A1055T Substitution - Missense Small_intestine COSM5621073 KAT6B c.2621T>C p.I874T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5606486 DOT1L c.3889C>T p.P1297S Substitution - Missense Skin COSM5606649 MYST3 c.1689C>T p.F563F Substitution - coding silent Skin COSM5553910 KAT5 c.309C>T p.F103F Substitution - coding silent Prostate COSM5766820 EZH2 c.1643G>C p.C548S Substitution - Missense Large_intestine COSM5777586 KDM1A c.620G>A p.R207Q Substitution - Missense Breast COSM5797122 NIPBL c.6694C>T p.Q2232* Substitution - Nonsense Breast COSM5883542 ASXL1 c.2168C>T p.S723F Substitution - Missense Skin COSM5967309 SMARCA4 c.352C>T p.Q118* Substitution - Nonsense Salivary_gland COSM5954671 TDRD7 c.2500C>T p.R834C Substitution - Missense Upper_aerodigestive_tract COSM5989202 TRIM66 c.3027G>T p.W1009C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6008553 NCOA6 c.2113G>A p.V705I Substitution - Missense Prostate COSM5971883 PRMT7 c.483C>T p.H161H Substitution - coding silent Upper_aerodigestive_tract COSM5945696 ATRX c.? p.E2265A Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM5417519 TET2 c.? p.M376fs*1 Frameshift Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43117 TET2 c.1_6009del6009 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1666676 SETBP1 c.? p.I871T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3661732 NSD1 c.7240T>G p.L2414V Substitution - Missense Biliary_tract COSM6006415 KMT2C c.5680C>A p.P1894T Substitution - Missense Central_nervous_system COSM5974080 EYA2 c.705G>A p.E235E Substitution - coding silent Upper_aerodigestive_tract COSM1108 SMARCB1 c.? p.? Unknown Central_nervous_system COSM5967916 BTAF1 c.5407-1G>A p.? Unknown Genital_tract COSM4573883 BTAF1 c.3373A>G p.M1125V Substitution - Missense Bone COSM88786 EP300 c.6523A>C p.M2175L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4617358 KDM1A c.869T>C p.I290T Substitution - Missense Large_intestine COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM5945026 TET2 c.2233C>T p.Q745* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM53005 EZH2 c.2050C>T p.R684C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2152166 PHC3 c.512_513delCT p.A171fs*4 Deletion - Frameshift Central_nervous_system COSM4803020 APOBEC1 c.494C>T p.A165V Substitution - Missense Liver COSM1034201 CBX6 c.687C>T p.F229F Substitution - coding silent Endometrium COSM4854511 KMT2A c.9598G>C p.E3200Q Substitution - Missense Cervix COSM5059050 SMYD5 c.727C>T p.R243C Substitution - Missense Stomach COSM4120708 MINA c.271A>G p.S91G Substitution - Missense Stomach COSM966692 CHD2 c.585G>A p.P195P Substitution - coding silent Endometrium COSM1716591 BAP1 c.1-?_122+?del p.? Unknown Pleura COSM4954686 MLL5 c.4212A>G p.L1404L Substitution - coding silent Liver COSM1628604 ARID2 c.1056T>C p.T352T Substitution - coding silent Liver COSM5939347 CHD1 c.2545C>T p.H849Y Substitution - Missense Skin COSM86976 IKZF1 c.1-?_40+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM20436 TAF1L c.1994delA p.K665fs*4 Deletion - Frameshift Breast COSM3519931 AKAP1 c.886C>T p.Q296* Substitution - Nonsense Skin COSM3733522 NCOR1 c.59A>C p.Y20S Substitution - Missense Central_nervous_system COSM727028 EP300 c.4241A>G p.Y1414C Substitution - Missense Oesophagus COSM5743898 CXXC1 c.764G>A p.R255H Substitution - Missense Small_intestine COSM1289316 TDRD1 c.933T>C p.Y311Y Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM677827 TDRD5 c.2807T>A p.L936* Substitution - Nonsense Lung COSM4950032 SUZ12 c.1862T>A p.V621D Substitution - Missense Liver COSM28756 IDH1 c.? p.G97D Substitution - Missense Large_intestine COSM5831357 CDY1B c.192_193insA p.L65fs*8 Insertion - Frameshift Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM191435 KDM5C c.3563G>C p.C1188S Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM1255198 KAT2A c.359G>A p.C120Y Substitution - Missense Oesophagus COSM5364596 SETBP1 c.3938A>G p.D1313G Substitution - Missense Large_intestine COSM3547671 ADNP c.493T>A p.Y165N Substitution - Missense Skin COSM4729929 SRCAP c.1605A>C p.Q535H Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5045122 TBL1XR1 c.1337A>G p.Y446C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4500164 PHC1 c.558C>T p.V186V Substitution - coding silent Skin COSM5816763 NCOR1 c.4476G>T p.M1492I Substitution - Missense Liver COSM3624834 EHMT2 c.1951C>T p.P651S Substitution - Missense Skin COSM4603590 KMT2C c.2448_2449insA p.I817fs*11 Insertion - Frameshift Upper_aerodigestive_tract COSM97168 PRDM1 c.143C>G p.P48R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1715925 SMARCA4 c.4615T>C p.F1539L Substitution - Missense Liver COSM969264 GTF3C1 c.1264C>T p.R422W Substitution - Missense Endometrium COSM972481 CTCF c.940_941insAC p.G318fs*16 Insertion - Frameshift Endometrium COSM4705946 NCOA2 c.817C>T p.R273C Substitution - Missense Oesophagus COSM5055001 CTCF c.1069G>A p.D357N Substitution - Missense Stomach COSM41294 IDH1 c.? p.R132C Substitution - Missense Bone COSM41294 IDH1 c.? p.R132C Substitution - Missense Soft_tissue COSM2950013 BRPF1 c.1423G>A p.G475S Substitution - Missense Soft_tissue COSM1030697 BRWD1 c.3585G>A p.P1195P Substitution - coding silent Endometrium COSM1066302 NSD1 c.6380C>T p.A2127V Substitution - Missense Endometrium COSM1067695 NIPBL c.5366G>A p.R1789Q Substitution - Missense Endometrium COSM71586 MBD5 c.3244G>T p.D1082Y Substitution - Missense Ovary COSM5624513 SETD2 c.4855C>T p.R1619W Substitution - Missense Oesophagus COSM1211271 JMJD1C c.4483T>C p.S1495P Substitution - Missense Large_intestine COSM5347675 BPTF c.2870_2904del35 p.S957fs*3 Deletion - Frameshift Liver COSM1443398 EHMT2 c.733C>T p.R245C Substitution - Missense Large_intestine COSM907723 ARID1A c.4003C>T p.R1335* Substitution - Nonsense Large_intestine COSM1630066 NCOR1 c.515C>T p.S172L Substitution - Missense Upper_aerodigestive_tract COSM5751489 CTCF c.414T>AT p.Y138fs*1 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM369425 PRMT7 c.464C>T p.A155V Substitution - Missense Large_intestine COSM4609817 DAXX c.2216_2217delCT p.S739fs*1 Deletion - Frameshift Adrenal_gland COSM36388 SMARCB1 c.324_325insG p.A109fs*61 Insertion - Frameshift Central_nervous_system COSM5946679 GTF3C1 c.4982A>G p.N1661S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1378312 CHD9 c.2274delT p.F760fs*16 Deletion - Frameshift Large_intestine COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1620413 C5orf35 c.1A>G p.M1V Substitution - Missense Liver COSM4116594 KAT2B c.2351C>G p.S784C Substitution - Missense Stomach COSM3685411 NCOA2 c.585C>A p.S195R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3704371 CHD4 c.1687-5C>G p.? Unknown Liver COSM42047 TET2 c.1954C>T p.Q652* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5013850 EYA1 c.922C>T p.R308* Substitution - Nonsense Kidney COSM1676247 SUV420H1 c.1450C>A p.L484M Substitution - Missense Large_intestine COSM1209390 HDAC6 c.649G>A p.A217T Substitution - Missense Stomach COSM4526943 MBD6 c.142G>A p.E48K Substitution - Missense Skin COSM895916 TDRKH c.601C>T p.R201W Substitution - Missense Endometrium COSM3379056 CHD6 c.5638A>G p.M1880V Substitution - Missense Pancreas COSM1296218 ARID1A c.1156C>T p.Q386* Substitution - Nonsense Urinary_tract COSM1470678 PRMT5 c.614-1G>C p.? Unknown Prostate COSM5894925 PCGF6 c.178C>T p.R60W Substitution - Missense Skin COSM3661546 HDAC3 c.936G>A p.S312S Substitution - coding silent Stomach COSM3635736 EZH2 c.1605T>G p.C535W Substitution - Missense Skin COSM4702440 KMT2D c.3463A>G p.I1155V Substitution - Missense Large_intestine COSM255663 ZMYM3 c.1939C>T p.R647* Substitution - Nonsense Central_nervous_system COSM3766327 DPF1 c.992-4G>A p.? Unknown Oesophagus COSM1497077 TAF1L c.1194T>C p.S398S Substitution - coding silent Kidney COSM706327 KAT2A c.1627G>A p.V543I Substitution - Missense Lung COSM5963750 ORC1 c.1756-1G>A p.? Unknown Breast COSM211971 MBD1 c.1216C>T p.R406* Substitution - Nonsense Large_intestine COSM1196237 KDM4B c.2957G>T p.R986L Substitution - Missense Lung COSM468074 ATF7IP c.1061C>T p.T354I Substitution - Missense Kidney COSM1299142 EP400 c.4004C>T p.P1335L Substitution - Missense Urinary_tract COSM1220355 PHF2 c.1477A>G p.T493A Substitution - Missense Large_intestine COSM3860002 ARID1B c.5812T>C p.S1938P Substitution - Missense Large_intestine COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM245191 KDM1A c.2317T>G p.S773A Substitution - Missense Prostate COSM211735 TET2 c.4600C>T p.Q1534* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM97187 ASXL1 c.? p.S895del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM3713054 SUV420H2 c.419G>T p.G140V Substitution - Missense Upper_aerodigestive_tract COSM917772 EPC1 c.1632C>A p.L544L Substitution - coding silent Endometrium COSM4060185 SRCAP c.1455G>A p.A485A Substitution - coding silent Stomach COSM280244 CXXC1 c.1766G>A p.R589H Substitution - Missense Large_intestine COSM5020670 TIF1 c.2164C>T p.P722S Substitution - Missense Soft_tissue COSM4742888 ZMYM1 c.1495G>A p.G499R Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4638503 MBD6 c.165C>T p.L55L Substitution - coding silent Large_intestine COSM4630112 INOC1 c.2922C>T p.S974S Substitution - coding silent Large_intestine COSM5049373 PRDM2 c.656C>T p.S219L Substitution - Missense Oesophagus COSM4686163 GABRG1 c.874T>A p.F292I Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM252979 CLOCK c.368delT p.L123fs*1 Deletion - Frameshift Stomach COSM469787 CHD8 c.2978T>C p.F993S Substitution - Missense Kidney COSM3447089 RAG2 c.1278T>C p.D426D Substitution - coding silent Skin COSM4060713 CREBBP c.2506C>A p.L836M Substitution - Missense Stomach COSM461640 KMT2C c.3443C>G p.S1148* Substitution - Nonsense Cervix COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM77351 BRD8 c.1090A>T p.I364F Substitution - Missense Ovary COSM5600274 PRDM15 c.2619C>T p.R873R Substitution - coding silent Skin COSM5600534 SMYD1 c.290G>A p.G97E Substitution - Missense Skin COSM4765130 SRCAP c.5626_5627insC p.P1879fs*21 Insertion - Frameshift Stomach COSM4719555 PWWP2B c.1368G>A p.S456S Substitution - coding silent Large_intestine COSM1360186 EP400 c.8178A>G p.Q2726Q Substitution - coding silent Thyroid COSM5443393 KDM5C c.3964G>C p.E1322Q Substitution - Missense Oesophagus COSM914342 ASXL1 c.? p.Y591* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1362025 KMT2D c.6860C>T p.P2287L Substitution - Missense Breast COSM5502140 PRDM16 c.1787G>C p.S596T Substitution - Missense Biliary_tract COSM4619128 ADNP c.549C>T p.H183H Substitution - coding silent Large_intestine COSM5933426 CDYL2 c.1426G>A p.E476K Substitution - Missense Skin COSM2960280 WHSC1L1 c.1920T>A p.I640I Substitution - coding silent Upper_aerodigestive_tract COSM1679095 FTO c.226G>T p.G76C Substitution - Missense Kidney COSM4837423 BRD1 c.2020G>A p.G674S Substitution - Missense Cervix COSM4036871 RSF1 c.3940G>A p.A1314T Substitution - Missense Stomach COSM4611662 PHF14 c.540delA p.K182fs*19 Deletion - Frameshift Large_intestine COSM3710445 RSF1 c.1773C>T p.S591S Substitution - coding silent Upper_aerodigestive_tract COSM1742794 ARID1A c.1627C>A p.Q543K Substitution - Missense Biliary_tract COSM126027 SCMH1 c.502G>A p.D168N Substitution - Missense Upper_aerodigestive_tract COSM1406747 ATAD2B_ENST00000238789 c.920delA p.K307fs*57 Deletion - Frameshift Large_intestine COSM1696224 KDM3B c.4888C>T p.R1630* Substitution - Nonsense Skin COSM5462950 ASXL1 c.1496G>A p.R499H Substitution - Missense Large_intestine COSM87161 TET2 c.4138C>T p.H1380Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4383953 TET2 c.4662_4663delAG p.E1555fs*22 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3731364 KMT2A c.1655delC p.Q554fs*13 Deletion - Frameshift Stomach COSM96933 ATRX c.6457C>T p.R2153C Substitution - Missense Central_nervous_system COSM5885284 CREBBP c.? p.A138D Substitution - Missense Thyroid COSM3981015 PRMT8 c.915C>T p.H305H Substitution - coding silent Ovary COSM22046 NCOR1 c.5133T>A p.S1711R Substitution - Missense Kidney COSM4885608 PHIP c.2286T>A p.V762V Substitution - coding silent Upper_aerodigestive_tract COSM3548825 DIDO1 c.88C>T p.R30* Substitution - Nonsense Skin COSM1604979 MEN1 c.678A>G p.S226S Substitution - coding silent Liver COSM4170173 TET2 c.2706delA p.N903fs*18 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3914265 BRWD3 c.4087C>T p.Q1363* Substitution - Nonsense Skin COSM470596 INOC1 c.3762C>T p.F1254F Substitution - coding silent Kidney COSM1093 SMARCB1 c.1158+116insG p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5607293 ATAD2B_ENST00000238789 c.1942C>T p.L648F Substitution - Missense Skin COSM4655504 SFMBT2 c.1030A>T p.K344* Substitution - Nonsense Large_intestine COSM1690275 DNMT3A c.2054G>A p.G685E Substitution - Missense Skin COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5614977 HAT1 c.347C>A p.P116Q Substitution - Missense Lung COSM124649 MYST2 c.53C>T p.S18F Substitution - Missense Upper_aerodigestive_tract COSM4771420 PBRM1 c.290_290delT p.I97fs*5 Deletion - Frameshift Kidney COSM96364 BAP1 c.860C>G p.S287* Substitution - Nonsense Kidney COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5476357 NCOA1 c.1924G>A p.E642K Substitution - Missense Large_intestine COSM1388289 SMCHD1 c.516_517insA p.G175fs*21 Insertion - Frameshift Large_intestine COSM3430898 PHIP c.3949G>A p.D1317N Substitution - Missense Large_intestine COSM3890844 AP001011.3_ENST00000320876 c.4824C>T p.I1608I Substitution - coding silent Skin COSM3457033 SIRT4 c.636C>T p.V212V Substitution - coding silent Skin COSM4672001 CHD4 c.3217T>C p.S1073P Substitution - Missense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716614 ATRX c.663-1G>C p.? Unknown Central_nervous_system COSM5705858 RTF1 c.710T>C p.V237A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4115447 ACTL6A c.476+2T>C p.? Unknown Stomach COSM5574795 NCOA2 c.505A>G p.T169A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4109601 PHF16 c.1402C>T p.R468* Substitution - Nonsense Stomach COSM198796 PHF2 c.1468delA p.K492fs*6 Deletion - Frameshift Large_intestine COSM1735242 ZMYM3 c.143delC p.P48fs*65 Deletion - Frameshift Pancreas COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4797119 ARID1B c.6045G>A p.G2015G Substitution - coding silent Liver COSM1132511 TAF1L c.2605G>A p.A869T Substitution - Missense Breast COSM1027532 ZMYND8 c.589G>A p.V197I Substitution - Missense Endometrium COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3669777 TRRAP c.463C>T p.L155L Substitution - coding silent Liver COSM3873111 RING1 c.621C>T p.G207G Substitution - coding silent Stomach COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5546649 PHF6 c.604A>T p.R202* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5726331 PHC2 c.1127C>T p.P376L Substitution - Missense Skin COSM1426218 TET2 c.4305G>T p.Q1435H Substitution - Missense Large_intestine COSM3667852 CREBBP c.2977C>T p.P993S Substitution - Missense Liver COSM5895315 TP53BP1 c.2702-4delT p.? Unknown Skin COSM219679 NCOA6 c.5423G>A p.R1808Q Substitution - Missense Large_intestine COSM3766017 RAI1 c.1992G>A p.P664P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM214448 SETDB2 c.994_995delAA p.R333fs*11 Deletion - Frameshift Breast COSM2030702 PRMT5 c.766C>T p.R256W Substitution - Missense Large_intestine COSM4474447 KDM4B c.1920C>T p.F640F Substitution - coding silent Skin COSM4119064 BAP1 c.524C>A p.P175H Substitution - Missense Stomach COSM4119373 ACTR8 c.1191T>G p.T397T Substitution - coding silent Stomach COSM6001715 RTF1 c.1303A>G p.I435V Substitution - Missense Prostate COSM3811265 KDM2B c.2893C>A p.Q965K Substitution - Missense Breast COSM4002747 PBRM1 c.3597A>T p.P1199P Substitution - coding silent Soft_tissue COSM312955 MSH6 c.264T>G p.C88W Substitution - Missense Lung COSM5772386 INOC1 c.257G>C p.G86A Substitution - Missense Breast COSM1360194 EP400 c.8785C>T p.Q2929* Substitution - Nonsense Large_intestine COSM1606200 KMT2D c.14407C>T p.Q4803* Substitution - Nonsense Liver COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2813529 SMARCA4 c.1135G>A p.A379T Substitution - Missense Large_intestine COSM4706980 NIPBL c.4263_4264insT p.V1424fs*6 Insertion - Frameshift Large_intestine COSM2960091 ASH2L c.262G>A p.A88T Substitution - Missense Large_intestine COSM1723750 TP53BP1 c.4667-6C>T p.? Unknown Skin COSM1682000 PRDM15 c.1520A>G p.Y507C Substitution - Missense Breast COSM1606135 ARID2 c.1231G>T p.D411Y Substitution - Missense Liver COSM4034791 MTA2 c.1560C>T p.I520I Substitution - coding silent Stomach COSM685255 TAF3 c.2592G>T p.Q864H Substitution - Missense Lung COSM5442922 TET2 c.980C>G p.S327* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5568119 UHRF2 c.1031C>G p.S344C Substitution - Missense Prostate COSM1754199 NSD1 c.3276G>C p.Q1092H Substitution - Missense Urinary_tract COSM1076158 PHF10 c.659G>A p.R220Q Substitution - Missense Endometrium COSM4965578 ARID1A c.1963G>T p.G655* Substitution - Nonsense Pancreas COSM3969843 NCOR1 c.1613A>G p.K538R Substitution - Missense Central_nervous_system COSM1581252 KMT2C c.3758A>C p.E1253A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2019071 RSF1 c.1673C>T p.S558F Substitution - Missense Skin COSM4557243 L3MBTL3 c.71G>A p.G24E Substitution - Missense Skin COSM708624 SIRT7 c.1022T>G p.F341C Substitution - Missense Lung COSM5724186 RTF1 c.632C>T p.S211L Substitution - Missense Skin COSM3356563 ARID1A c.4072C>T p.Q1358* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM310680 DNMT1 c.2381C>T p.A794V Substitution - Missense Lung COSM4040231 EP400 c.1375A>C p.S459R Substitution - Missense Stomach COSM1586682 CHD4 c.783G>T p.K261N Substitution - Missense Endometrium COSM689976 KAT5 c.375G>A p.E125E Substitution - coding silent Lung COSM5909039 SFMBT2 c.1208C>T p.S403L Substitution - Missense Skin COSM1400335 BAZ2B c.5138-1G>T p.? Unknown Large_intestine COSM1031767 PRMT2 c.1209G>A p.R403R Substitution - coding silent Endometrium COSM211738 TET2 c.4807C>T p.Q1603* Substitution - Nonsense Breast COSM4022235 POGZ c.2832T>A p.D944E Substitution - Missense Stomach COSM1008168 BAZ2B c.628C>T p.R210* Substitution - Nonsense Skin COSM5553005 TDRKH c.596A>G p.E199G Substitution - Missense Prostate COSM1051626 SMARCA5 c.2594T>C p.I865T Substitution - Missense Endometrium COSM214494 ARID1A c.4017_4018delTG p.Y1339fs*1 Deletion - Frameshift Breast COSM4418709 NSD1 c.2176T>C p.S726P Substitution - Missense Soft_tissue COSM4701980 MGA c.9338G>T p.G3113V Substitution - Missense Large_intestine COSM1476831 CHD4 c.3484C>T p.R1162W Substitution - Missense Endometrium COSM3874530 TDRD6 c.3129G>T p.K1043N Substitution - Missense Stomach COSM167320 ADNP c.1395C>T p.F465F Substitution - coding silent Endometrium COSM5774342 EPC1 c.260A>G p.E87G Substitution - Missense Breast COSM1560993 PCGF6 c.83_84insGCCTCC p.P28_V29insPP Insertion - In frame Large_intestine COSM4031535 PRDM16 c.1968G>A p.P656P Substitution - coding silent Stomach COSM3781610 ARID1B c.768C>A p.G256G Substitution - coding silent Kidney COSM700505 TP53BP1 c.4994C>G p.S1665* Substitution - Nonsense Lung COSM457986 TAF1 c.2132A>G p.D711G Substitution - Missense Breast COSM3501044 RTF1 c.964T>A p.F322I Substitution - Missense Skin COSM1230637 TRRAP c.4339C>T p.R1447C Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM110818 BAP1 c.1_2190del2190 p.0? Whole gene deletion Pleura COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM438513 CARM1 c.726delG p.E243fs*37 Deletion - Frameshift Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM88748 CREBBP c.4337G>A p.R1446H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5611463 BAP1 c.1934delA p.N645fs*10 Deletion - Frameshift Pleura COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM985959 SIRT7 c.1031C>T p.A344V Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM6006267 HDAC4 c.1792_1794delGAG p.E598delE Deletion - In frame Small_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4944020 KMT2C c.911_912insA p.M305fs*28 Insertion - Frameshift Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4847861 MBD6 c.721G>A p.D241N Substitution - Missense Cervix COSM3712220 PHF12 c.550G>A p.D184N Substitution - Missense Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5451578 NCOA3 c.1887T>C p.S629S Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5668497 SMARCA4 c.3575G>C p.R1192P Substitution - Missense Soft_tissue COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM5347002 ARID1A c.4210C>T p.Q1404* Substitution - Nonsense Endometrium COSM4817865 KDM4B c.1255G>A p.E419K Substitution - Missense Skin COSM95870 ERCC6 c.4467G>A p.K1489K Substitution - coding silent Lung COSM3700125 KAT5 c.1097C>T p.T366I Substitution - Missense Liver COSM5750412 CHD4 c.3386G>A p.G1129E Substitution - Missense Stomach COSM96435 EP300 c.(4025)ins18 p.(1409)ins6 Insertion - In frame Breast COSM4954669 TRRAP c.10914G>A p.T3638T Substitution - coding silent Liver COSM5663063 CREBBP c.5892T>G p.R1964R Substitution - coding silent Soft_tissue COSM3412760 PHF20L1 c.86A>G p.Y29C Substitution - Missense Central_nervous_system COSM5815123 CHD6 c.108C>T p.S36S Substitution - coding silent Liver COSM4565209 TAF1L c.1859_1860CC>TT p.P620L Substitution - Missense Skin COSM242081 TRRAP c.1937C>A p.T646K Substitution - Missense Prostate COSM1717175 ATRX c.6172A>G p.S2058G Substitution - Missense Ovary COSM3723035 PHF2 c.2955T>C p.S985S Substitution - coding silent Lung COSM144614 KMT2D c.14808T>A p.Y4936* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1736495 TBL1XR1 c.200A>G p.N67S Substitution - Missense Central_nervous_system COSM3920932 JARID2 c.128C>T p.S43F Substitution - Missense Skin COSM255312 SMARCA4 c.3727C>T p.R1243W Substitution - Missense Central_nervous_system COSM1302132 CTCF c.1163G>A p.S388N Substitution - Missense Urinary_tract COSM4211346 APOBEC1 c.373C>T p.Q125* Substitution - Nonsense Large_intestine COSM5740037 CHD8 c.3119delA p.N1040fs*12 Deletion - Frameshift Small_intestine COSM3756290 SMARCA4 c.1413G>A p.K471K Substitution - coding silent Large_intestine COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM21744 SMARCC1 c.1495C>T p.R499C Substitution - Missense Large_intestine COSM23006 MEN1 c.467_468insT p.V157fs*23 Insertion - Frameshift Parathyroid COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM29387 SMARCB1 c.629_1158del530 p.? Unknown Central_nervous_system COSM36205 ASXL1 c.3306G>T p.E1102D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51418 ARID1A c.5164C>T p.R1722* Substitution - Nonsense Endometrium COSM144223 ATRX c.4276C>T p.R1426* Substitution - Nonsense Central_nervous_system COSM160424 DIDO1 c.5239C>G p.Q1747E Substitution - Missense Breast COSM149376 SETD2 c.4376C>T p.P1459L Substitution - Missense Soft_tissue COSM216205 KDM6A c.2717_2718insA p.N906fs*5 Insertion - Frameshift Central_nervous_system COSM236698 ATF7IP c.3634C>T p.Q1212* Substitution - Nonsense Prostate COSM225883 KMT2C c.2968A>G p.S990G Substitution - Missense Upper_aerodigestive_tract COSM249142 DNMT3A c.2185C>T p.R729W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM260971 FMR1 c.1590C>T p.D530D Substitution - coding silent Large_intestine COSM265378 ERCC6 c.3416C>T p.S1139F Substitution - Missense Large_intestine COSM298325 ARID1A c.3978_3980delGCA p.Q1334delQ Deletion - In frame Breast COSM293686 SP140_ENST00000392045 c.2008delA p.K672fs*4 Deletion - Frameshift Large_intestine COSM288641 BRWD1 c.4199T>G p.I1400S Substitution - Missense Large_intestine COSM355269 PHF3 c.2478G>T p.K826N Substitution - Missense Lung COSM357838 YY1 c.528C>T p.G176G Substitution - coding silent Lung COSM396785 KMT2C c.2674G>A p.G892R Substitution - Missense Thyroid COSM422418 EHMT1 c.3068G>A p.R1023K Substitution - Missense Urinary_tract COSM402855 HDAC9 c.1541G>T p.G514V Substitution - Missense Lung COSM405234 SMARCA1 c.3030_3030+1insTG p.E1011fs*10 Unknown Lung COSM425841 SMYD3 c.528C>T p.L176L Substitution - coding silent Breast COSM430194 HCFC2 c.266G>A p.G89E Substitution - Missense Breast COSM478245 NCOA3 c.2808C>G p.N936K Substitution - Missense Kidney COSM1021272 MSH6 c.1921G>T p.E641* Substitution - Nonsense Endometrium COSM743059 PHIP c.5348C>A p.S1783Y Substitution - Missense Lung COSM716182 BAZ2B c.2429G>C p.R810T Substitution - Missense Lung COSM1692834 SFMBT1 c.2378C>T p.P793L Substitution - Missense Skin COSM930219 MEN1 c.598G>A p.G200S Substitution - Missense Endometrium COSM1602156 ARID1A c.6299A>G p.Q2100R Substitution - Missense Liver COSM1034534 EP300 c.3117G>A p.P1039P Substitution - coding silent Endometrium COSM1066251 NSD1 c.3817C>T p.R1273C Substitution - Missense Endometrium COSM1075359 ARID1B c.5298C>T p.F1766F Substitution - coding silent Skin COSM970049 SETD1A c.2969G>A p.R990Q Substitution - Missense Endometrium COSM1121589 KDM6A c.2293G>T p.G765* Substitution - Nonsense Endometrium COSM1108221 TAF1L c.4208C>T p.T1403M Substitution - Missense Endometrium COSM1131918 EHMT2 c.50C>A p.A17D Substitution - Missense Upper_aerodigestive_tract COSM1131918 EHMT2 c.50C>A p.A17D Substitution - Missense Upper_aerodigestive_tract COSM1130932 BRD8 c.3201C>T p.G1067G Substitution - coding silent Prostate COSM1096247 PHF20L1 c.95G>A p.R32Q Substitution - Missense Stomach COSM1088648 STK31 c.2043A>C p.E681D Substitution - Missense Endometrium COSM1079899 TDRD6 c.3186C>A p.V1062V Substitution - coding silent Endometrium COSM1244721 AKAP1 c.926_946del21 p.G323_E329delGLDRNEE Deletion - In frame Oesophagus COSM1209379 HDAC4 c.1654G>A p.A552T Substitution - Missense Stomach COSM1180830 CTCF c.603_604insA p.T204fs*26 Insertion - Frameshift Large_intestine COSM1163731 ADNP c.3047delA p.K1016fs*11 Deletion - Frameshift Stomach COSM1162420 KDM6A c.3115C>G p.Q1039E Substitution - Missense Pancreas COSM1583150 DNMT3A c.2628C>A p.D876E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1185950 PCGF1 c.407T>G p.L136R Substitution - Missense Lung COSM1292335 TDRD6 c.3450T>C p.A1150A Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1307275 ASXL1 c.1630G>A p.D544N Substitution - Missense Urinary_tract COSM1312604 ING3 c.85G>A p.D29N Substitution - Missense Urinary_tract COSM1304321 DOT1L c.2931C>T p.T977T Substitution - coding silent Stomach COSM1287835 SETMAR c.4T>C p.F2L Substitution - Missense Autonomic_ganglia COSM1390291 SMARCA4 c.4887T>C p.D1629D Substitution - coding silent Soft_tissue COSM1414097 BRWD1 c.2565C>T p.S855S Substitution - coding silent Large_intestine COSM1416503 L3MBTL2 c.1447G>A p.A483T Substitution - Missense Large_intestine COSM1341430 ARID1A c.6415delC p.F2141fs*59 Deletion - Frameshift Stomach COSM1533438 PHF20 c.2134G>T p.D712Y Substitution - Missense Liver COSM1687260 ARID1A c.1262C>T p.P421L Substitution - Missense Skin COSM1681634 NCOA6 c.1739T>C p.M580T Substitution - Missense Large_intestine COSM1716904 DNMT3A c.32A>C p.D11A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716568 BAP1 c.581-?_659+?del p.? Unknown Pleura COSM1723898 CHD2 c.3296C>T p.S1099F Substitution - Missense Skin COSM1742356 KMT2C c.12068T>A p.L4023* Substitution - Nonsense Urinary_tract COSM42037 TET2 c.4210C>T p.R1404* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1756766 EP400 c.3426C>T p.L1142L Substitution - coding silent Urinary_tract COSM2051950 SMYD3 c.510C>T p.I170I Substitution - coding silent Breast COSM2687722 NIPBL c.165T>C p.A55A Substitution - coding silent Upper_aerodigestive_tract COSM3095571 ZMYM3 c.3712C>T p.R1238W Substitution - Missense Large_intestine COSM3296120 MBD5 c.1171A>G p.M391V Substitution - Missense Upper_aerodigestive_tract COSM3296145 MBD5 c.1643G>A p.S548N Substitution - Missense Upper_aerodigestive_tract COSM3378605 SMARCA4 c.2444T>C p.L815P Substitution - Missense Pancreas COSM3380242 KDM3A c.3612C>T p.H1204H Substitution - coding silent Pancreas COSM3501425 TP53BP1 c.2291C>T p.P764L Substitution - Missense Skin COSM3430727 CDYL c.244C>T p.R82W Substitution - Missense Stomach COSM3633864 TRIM24 c.2390C>T p.S797F Substitution - Missense Skin COSM3630735 ZCWPW1 c.1152C>T p.S384S Substitution - coding silent Skin COSM3545307 DNMT3B c.1497C>T p.F499F Substitution - coding silent Skin COSM3555056 TCF20 c.2136T>C p.S712S Substitution - coding silent Skin COSM3557172 MSL3 c.1398C>T p.I466I Substitution - coding silent Skin COSM3537171 KDM4B c.847G>C p.G283R Substitution - Missense Skin COSM3656863 TAF1L c.1814G>A p.G605E Substitution - Missense Skin COSM3694923 BAZ2B c.5899A>C p.T1967P Substitution - Missense Large_intestine COSM3685903 PHF2 c.40T>A p.Y14N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3763830 EHMT1 c.351T>C p.P117P Substitution - coding silent Large_intestine COSM3785126 RBBP5 c.167G>A p.R56K Substitution - Missense Pancreas COSM3824343 PBRM1 c.2656C>G p.L886V Substitution - Missense Breast COSM3968549 MPHOSPH8 c.972C>T p.T324T Substitution - coding silent Central_nervous_system COSM4016851 HELLS c.32G>A p.G11D Substitution - Missense Stomach COSM4042019 KDM5A c.688G>C p.V230L Substitution - Missense Stomach COSM4036086 SUV420H1 c.919T>G p.Y307D Substitution - Missense Stomach COSM4086888 ATF2 c.114C>T p.N38N Substitution - coding silent Stomach COSM4098296 ACTR5 c.451C>T p.L151F Substitution - Missense Stomach COSM4121661 PRDM5 c.217G>T p.A73S Substitution - Missense Stomach COSM4123986 WHSC1 c.747T>C p.Y249Y Substitution - coding silent Stomach COSM4143809 PRDM16 c.1097A>C p.H366P Substitution - Missense Thyroid COSM4147656 RNF17 c.582T>C p.F194F Substitution - coding silent Thyroid COSM4170150 TET2 c.393delA p.N132fs*13 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4384246 EZH2 c.2084C>T p.S695L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4401171 BAG6 c.3114T>C p.S1038S Substitution - coding silent Skin COSM4440864 L3MBTL4 c.923G>C p.R308P Substitution - Missense Large_intestine COSM4459237 EZH2 c.1117C>T p.P373S Substitution - Missense Skin COSM4459551 EP400 c.112C>T p.P38S Substitution - Missense Skin COSM4411013 PBRM1 c.2354T>G p.L785R Substitution - Missense Kidney COSM4700983 MBD6 c.1533C>A p.P511P Substitution - coding silent Large_intestine COSM4717519 PRDM8 c.249A>C p.S83S Substitution - coding silent Large_intestine COSM4770177 PBRM1 c.4576+5_4576+6insGAG p.? Unknown Soft_tissue COSM4694876 KDM2A c.3181C>T p.R1061C Substitution - Missense Oesophagus COSM4735440 TP53BP1 c.4655A>G p.Y1552C Substitution - Missense Large_intestine COSM4689519 HAT1 c.248T>C p.L83P Substitution - Missense Large_intestine COSM4714044 PHIP c.5436A>C p.E1812D Substitution - Missense Large_intestine COSM4665179 BAP1 c.449G>A p.R150H Substitution - Missense Biliary_tract COSM4776038 CTCF c.1535_1560del26 p.M512fs*10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4795262 BRD8 c.1480G>A p.G494R Substitution - Missense Liver COSM4792960 PHF21B c.445G>A p.A149T Substitution - Missense Liver COSM4886631 TDRD6 c.5032C>A p.P1678T Substitution - Missense Upper_aerodigestive_tract COSM4890702 BRPF1 c.1289G>T p.G430V Substitution - Missense Upper_aerodigestive_tract COSM4903487 KMT2A c.2405C>T p.S802F Substitution - Missense Skin COSM4918623 MSH6 c.1925A>G p.Y642C Substitution - Missense Liver COSM4835243 PHF3 c.2952G>C p.L984F Substitution - Missense Cervix COSM4835306 ACTR8 c.481C>T p.H161Y Substitution - Missense Cervix COSM4855986 KDM2B c.1941G>A p.L647L Substitution - coding silent Cervix COSM4816004 KDM5C c.345C>T p.L115L Substitution - coding silent Breast COSM4824190 ARID2 c.1250C>T p.S417L Substitution - Missense Cervix COSM4952670 KMT2D c.2270A>G p.H757R Substitution - Missense Liver COSM4949870 ARID1A c.1070_1071GC>T p.S357fs*6 Complex - frameshift Liver COSM4964524 KDM3B c.3124C>G p.H1042D Substitution - Missense Pancreas COSM4992832 TRIM24 c.1664C>T p.P555L Substitution - Missense Skin COSM4995136 KMT2D c.10267G>T p.A3423S Substitution - Missense Upper_aerodigestive_tract COSM4984989 HNF1A c.1460G>A p.S487N Substitution - Missense Soft_tissue COSM4981241 BRDT c.1551G>A p.Q517Q Substitution - coding silent Oesophagus COSM5232988 KMT2D c.3938G>A p.R1313H Substitution - Missense Lung COSM5373267 DPF2 c.228C>T p.A76A Substitution - coding silent Skin COSM5401236 GABRG1 c.1201G>A p.D401N Substitution - Missense Skin COSM5468902 TDRD5 c.751C>T p.Q251* Substitution - Nonsense Large_intestine COSM5487019 PYGO2 c.817C>T p.Q273* Substitution - Nonsense Large_intestine COSM5626605 HDAC7 c.1339C>G p.Q447E Substitution - Missense Oesophagus COSM5638924 BPTF c.5346G>A p.L1782L Substitution - coding silent Oesophagus COSM5754422 ARID1A c.3540C>G p.S1180R Substitution - Missense Large_intestine COSM5755309 GATAD2A c.1113G>T p.E371D Substitution - Missense Large_intestine COSM5748960 ZMYM3 c.2206C>T p.R736C Substitution - Missense Pancreas COSM5753000 BRPF3 c.630T>C p.D210D Substitution - coding silent Pancreas COSM5671609 APOBEC1 c.484G>T p.G162W Substitution - Missense Soft_tissue COSM5683022 MEN1 c.1209C>T p.A403A Substitution - coding silent Soft_tissue COSM5708584 TBL1XR1 c.931G>C p.A311P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5708783 DHX30 c.788A>T p.K263M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5708966 TET2 c.3955G>T p.E1319* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5762647 KIAA1045 c.247C>T p.R83* Substitution - Nonsense Pancreas COSM5762864 CTCF c.332G>A p.G111E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5795562 SMARCC1 c.1165+10C>T p.? Unknown Breast COSM5878872 DNMT3A c.802G>A p.D268N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5800680 SMCHD1 c.3229G>T p.E1077* Substitution - Nonsense Breast COSM5880756 KDM4C c.1475G>C p.S492T Substitution - Missense Soft_tissue COSM5944504 TET2 c.2735_2736insG p.Q913fs*11 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5944539 KMT2C c.11558_11559insA p.T3854fs*6 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5945017 TET2 c.1369G>A p.A457T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5990312 TRIM66 c.3105A>G p.G1035G Substitution - coding silent Liver COSM5971269 ALKBH1 c.492A>G p.L164L Substitution - coding silent Upper_aerodigestive_tract COSM5992862 KDM4A c.2301A>G p.S767S Substitution - coding silent Prostate COSM5975572 PRDM9 c.2368A>C p.N790H Substitution - Missense Upper_aerodigestive_tract COSM6008977 KMT2C c.10864C>T p.P3622S Substitution - Missense Large_intestine COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM1716804 TET2 c.? p.Q1852* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM5031029 KMT2D c.? p.?fs Frameshift Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM132981 ASXL1 c.? p.W796* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1423181 SETMAR c.480G>A p.P160P Substitution - coding silent Large_intestine COSM5656561 CHD7 c.549delT p.Q184fs*27 Deletion - Frameshift Soft_tissue COSM4789576 CREBBP c.501C>T p.A167A Substitution - coding silent Liver COSM1245821 ATRX c.6750A>T p.G2250G Substitution - coding silent Oesophagus COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM5613357 RAG2 c.1064C>A p.T355N Substitution - Missense Lung COSM5688139 TIF1 c.1646G>T p.S549I Substitution - Missense Soft_tissue COSM5760792 KDM4B c.2789G>A p.R930H Substitution - Missense Pancreas COSM5722303 TP53BP1 c.4001C>T p.A1334V Substitution - Missense Skin COSM1411073 ASXL1 c.1719G>A p.R573R Substitution - coding silent Large_intestine COSM5664967 NCOR1 c.155A>T p.Q52L Substitution - Missense Soft_tissue COSM1377819 CREBBP c.4874T>C p.M1625T Substitution - Missense Oesophagus COSM4942314 SMEK1 c.200A>G p.D67G Substitution - Missense Liver COSM5622186 WHSC1L1 c.112A>C p.S38R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1007246 EPC2 c.994C>T p.R332C Substitution - Missense Endometrium COSM3596276 SFMBT1 c.1666C>T p.L556F Substitution - Missense Skin COSM3416865 ARID2 c.4241G>T p.R1414I Substitution - Missense Large_intestine COSM4110858 ZMYM3 c.2383A>T p.T795S Substitution - Missense Stomach COSM110237 PRMT8 c.104A>G p.Q35R Substitution - Missense Skin COSM343666 GABRG1 c.1238C>G p.A413G Substitution - Missense Lung COSM430521 HNF1A c.51C>G p.L17L Substitution - coding silent Liver COSM5470548 PHF13 c.592C>T p.R198W Substitution - Missense Large_intestine COSM4603373 EP400 c.8156_8157insGCA p.Q2748_T2749insQ Insertion - In frame Large_intestine COSM442610 ATAD2B_ENST00000238789 c.335G>T p.R112L Substitution - Missense Breast COSM3428024 TET2 c.3569C>A p.S1190Y Substitution - Missense Large_intestine COSM1413009 DIDO1 c.6051G>T p.Q2017H Substitution - Missense Large_intestine COSM5945964 BAP1 c.1937A>G p.Y646C Substitution - Missense Eye COSM1057 SMARCB1 c.1148delC p.P383fs*>3 Deletion - Frameshift Soft_tissue COSM1017646 SP100 c.683C>T p.S228L Substitution - Missense Large_intestine COSM5691732 PRDM16 c.180C>T p.F60F Substitution - coding silent Soft_tissue COSM1057 SMARCB1 c.1148delC p.P383fs*>3 Deletion - Frameshift Central_nervous_system COSM3922061 PHF3 c.3817C>T p.R1273C Substitution - Missense Skin COSM5985487 KDM5C c.1711A>G p.M571V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5006563 KDM5C c.? p.V783E Substitution - Missense Kidney COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3865335 PRDM16 c.2360C>T p.P787L Substitution - Missense Skin COSM5430753 GTF3C1 c.4575G>T p.Q1525H Substitution - Missense Oesophagus COSM1399865 EPC2 c.2351+1_2351+2delGT p.? Unknown Large_intestine COSM196940 PHIP c.2113G>A p.A705T Substitution - Missense Large_intestine COSM990746 SMARCA4 c.2402G>A p.R801H Substitution - Missense Endometrium COSM1332238 PRMT6 c.843G>A p.E281E Substitution - coding silent Large_intestine COSM907687 ARID1A c.1512delA p.Q505fs*114 Deletion - Frameshift Endometrium COSM4829813 DOT1L c.1315C>T p.Q439* Substitution - Nonsense Cervix COSM4565268 INOC1 c.1923_1924CC>TT p.Q642* Substitution - Nonsense Skin COSM4611948 PWWP2B c.558delC p.P188fs*129 Deletion - Frameshift Large_intestine COSM1104691 PHF19 c.1195T>G p.L399V Substitution - Missense Endometrium COSM3357780 SMARCA5 c.544G>A p.D182N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Soft_tissue COSM85916 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5708964 TET2 c.3574G>A p.G1192R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM371047 CHD2 c.5154G>T p.R1718S Substitution - Missense Lung COSM4817833 ACTL6A c.1289G>C p.*430S Nonstop extension Cervix COSM4960407 HDAC4 c.2190G>A p.R730R Substitution - coding silent Liver COSM3160281 PHF3 c.2469G>A p.V823V Substitution - coding silent Large_intestine COSM1460905 WDR5 c.642delC p.V217fs*4 Deletion - Frameshift Large_intestine COSM4879901 MYST3 c.1480C>T p.Q494* Substitution - Nonsense Prostate COSM940294 SMARCD1 c.80G>A p.G27D Substitution - Missense Endometrium COSM1609384 BRD7 c.1346delT p.L449fs*19 Deletion - Frameshift Liver COSM5463315 SETD7 c.352G>A p.V118M Substitution - Missense Large_intestine COSM3109779 CCDC101 c.224+10G>A p.? Unknown Oesophagus COSM1361998 KMT2D c.8980C>A p.Q2994K Substitution - Missense Large_intestine COSM5063313 NCOA2 c.1719A>G p.P573P Substitution - coding silent Stomach COSM4680511 EHMT2 c.79G>C p.E27Q Substitution - Missense Large_intestine COSM1406126 SP100 c.275C>A p.S92Y Substitution - Missense Large_intestine COSM1726113 NCOR1 c.7187C>G p.T2396S Substitution - Missense Liver COSM3493336 BRDT c.1847G>A p.R616K Substitution - Missense Skin COSM34212 ASXL1 c.2385delC p.W796fs*22 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM908294 HDAC1 c.101G>A p.R34Q Substitution - Missense Endometrium COSM3368678 SIRT4 c.290G>A p.R97Q Substitution - Missense Oesophagus COSM723127 ASXL1 c.1322C>T p.S441F Substitution - Missense Skin COSM1082843 ZCWPW1 c.36A>G p.G12G Substitution - coding silent Endometrium COSM1606140 ARID2 c.3474delT p.N1158fs*15 Deletion - Frameshift Liver COSM4021544 PRDM2 c.1514T>C p.V505A Substitution - Missense Stomach COSM227788 PRDM14 c.1297C>T p.P433S Substitution - Missense Skin COSM3861861 EHMT2 c.3128A>G p.Y1043C Substitution - Missense Stomach COSM4611398 ZMYM2 c.3124delA p.K1044fs*33 Deletion - Frameshift Large_intestine COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1326190 TFPT c.209G>A p.R70Q Substitution - Missense Ovary COSM1493632 SRCAP c.7003G>T p.A2335S Substitution - Missense Kidney COSM164705 SUZ12 c.338G>A p.R113K Substitution - Missense Breast COSM1680345 SETBP1 c.2652G>T p.K884N Substitution - Missense Large_intestine COSM1226778 SMARCB1 c.1120C>T p.R374W Substitution - Missense Large_intestine COSM84634 EPC2 c.300C>A p.F100L Substitution - Missense Pancreas COSM4449068 L3MBTL3 c.1645_1646delTT p.L549fs*15 Deletion - Frameshift Skin COSM5948372 ARID1A c.645C>G p.Y215* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3637541 STK31 c.1477G>A p.E493K Substitution - Missense Skin COSM294031 KIAA2026_ENST00000399933 c.2466A>G p.E822E Substitution - coding silent Large_intestine COSM5952473 ARID2 c.5029C>T p.R1677* Substitution - Nonsense Oesophagus COSM1072926 NCOA7 c.1107G>T p.E369D Substitution - Missense Endometrium COSM3357460 TAF1 c.4490C>G p.P1497R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM738283 PRDM9 c.765G>T p.Q255H Substitution - Missense Lung COSM1622309 SND1 c.520C>T p.R174W Substitution - Missense Liver COSM3718750 ARID2 c.2169_2170insC p.Q725fs*7 Insertion - Frameshift Upper_aerodigestive_tract COSM1737295 ARID1B c.5384A>G p.N1795S Substitution - Missense Central_nervous_system COSM3864575 LBR c.219C>T p.S73S Substitution - coding silent Skin COSM1197530 MYST3 c.5668G>A p.A1890T Substitution - Missense Large_intestine COSM4104943 BRD1 c.775C>T p.R259C Substitution - Missense Stomach COSM954430 CHD8 c.4414C>T p.R1472* Substitution - Nonsense Endometrium COSM3664211 WDR5 c.4G>C p.A2P Substitution - Missense Liver COSM97162 PRDM1 c.183G>A p.E62fs Unknown Haematopoietic_and_lymphoid_tissue COSM1385437 BPTF c.7491G>A p.V2497V Substitution - coding silent Large_intestine COSM5965348 MBD4 c.272A>G p.E91G Substitution - Missense Breast COSM3901328 PRDM14 c.333G>T p.V111V Substitution - coding silent Stomach COSM1735368 PCGF1 c.524T>C p.L175P Substitution - Missense Pancreas COSM88743 CREBBP c.4507T>G p.Y1503D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM301883 CBX1 c.525G>A p.S175S Substitution - coding silent Central_nervous_system COSM42013 TET2 c.5456T>G p.L1819* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM734364 GABRG1 c.159G>T p.W53C Substitution - Missense Lung COSM1159754 CREBBP c.4492C>T p.R1498* Substitution - Nonsense Oesophagus COSM85913 IKZF1 c.1-?_160+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51246 ARID1A c.1626_1627delGC p.Q543fs*79 Deletion - Frameshift Ovary COSM3726037 GTF3C1 c.4353+10G>C p.? Unknown Lung COSM1445547 PHF3 c.930A>C p.E310D Substitution - Missense Large_intestine COSM470839 PYGO1 c.62G>A p.G21E Substitution - Missense Kidney COSM4547477 TRRAP c.4240G>A p.E1414K Substitution - Missense Skin COSM3786947 BTAF1 c.4113C>T p.H1371H Substitution - coding silent Pancreas COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM99134 PRDM1 c.183+2T>G p.E61fs Unknown Haematopoietic_and_lymphoid_tissue COSM5351901 CREBBP c.5457C>A p.C1819* Substitution - Nonsense Kidney COSM5987222 RAI1 c.1482_1483delCA p.P496fs*66 Deletion - Frameshift Salivary_gland COSM5923491 ARID1A c.4472T>C p.V1491A Substitution - Missense Skin COSM3531887 LMNB2 c.526A>G p.K176E Substitution - Missense Skin COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1213488 LMNB1 c.464A>G p.D155G Substitution - Missense Large_intestine COSM988380 SETBP1 c.2003A>C p.K668T Substitution - Missense Endometrium COSM3971655 BAZ2B c.825A>T p.E275D Substitution - Missense Central_nervous_system COSM255007 KDM6A c.3341C>T p.S1114L Substitution - Missense Urinary_tract COSM256035 DNMT3A c.1648G>A p.G550R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4387475 EP300 c.4538T>C p.L1513P Substitution - Missense Oesophagus COSM4575453 KMT2D c.5544C>G p.P1848P Substitution - coding silent Bone COSM5739345 KDM2A c.1865T>C p.L622P Substitution - Missense Small_intestine COSM5749003 JARID2 c.493+2T>A p.? Unknown Pancreas COSM4485026 SETD2 c.1376C>T p.A459V Substitution - Missense Skin COSM1171713 SFMBT2 c.437C>A p.A146E Substitution - Missense Oesophagus COSM4603622 EZH2 c.? p.G5R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM73623 AKAP1 c.2444T>A p.V815D Substitution - Missense Ovary COSM4094915 SMEK2 c.2044A>G p.T682A Substitution - Missense Stomach COSM1262964 PRDM9 c.198C>T p.L66L Substitution - coding silent Stomach COSM3403345 CHD3 c.5078G>A p.R1693Q Substitution - Missense Central_nervous_system COSM3664780 CTCF c.1425G>T p.V475V Substitution - coding silent Breast COSM3527177 L3MBTL4 c.376G>A p.D126N Substitution - Missense Skin COSM4935930 INOC1 c.697G>A p.E233K Substitution - Missense Liver COSM3237276 KDM3B c.894A>T p.A298A Substitution - coding silent Upper_aerodigestive_tract COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2150850 RBBP5 c.1258C>T p.P420S Substitution - Missense Central_nervous_system COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3406605 ATRX c.3054G>T p.K1018N Substitution - Missense Central_nervous_system COSM5925538 SFMBT2 c.1270G>A p.E424K Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1493434 TP53BP1 c.2185C>T p.Q729* Substitution - Nonsense Kidney COSM5015996 SETD2 c.3444_3445insT p.T1149fs*14 Insertion - Frameshift Kidney COSM3578905 SP140_ENST00000392045 c.1795G>A p.G599R Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4604839 PRDM9 c.2417G>T p.C806F Substitution - Missense Upper_aerodigestive_tract COSM1394330 UHRF1 c.2014_2015insC p.P674fs*35 Insertion - Frameshift Central_nervous_system COSM3767150 MECOM c.573G>A p.E191E Substitution - coding silent Liver COSM4070291 KDM6B c.3787C>T p.R1263W Substitution - Missense Stomach COSM255015 KDM6A c.378C>G p.Y126* Substitution - Nonsense Urinary_tract COSM4748954 CREBBP c.3937A>C p.K1313Q Substitution - Missense Stomach COSM1478810 SETD1A c.789C>T p.F263F Substitution - coding silent Breast COSM4171094 EP300 c.4448A>G p.Y1483C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4092292 SP100 c.2432C>T p.A811V Substitution - Missense Stomach COSM5555072 ASXL1 c.768G>T p.G256G Substitution - coding silent Prostate COSM1732131 SETD2 c.3378C>A p.H1126Q Substitution - Missense Kidney COSM5985658 ARID1A c.? p.Q605* Substitution - Nonsense Lung COSM4433358 SMYD4 c.1280A>G p.N427S Substitution - Missense Oesophagus COSM3620790 EYA4 c.160G>A p.E54K Substitution - Missense Skin COSM4575448 KMT2D c.10307_10317del11 p.L3436fs*3 Deletion - Frameshift Bone COSM1301785 GTF3C1 c.6124G>A p.E2042K Substitution - Missense Urinary_tract COSM5754035 ING1 c.672C>G p.I224M Substitution - Missense Large_intestine COSM1215213 MLL5 c.656G>T p.R219I Substitution - Missense Large_intestine COSM4995123 KDM5A c.3914C>A p.A1305D Substitution - Missense Upper_aerodigestive_tract COSM5024023 MYST2 c.172C>T p.P58S Substitution - Missense Bone COSM1449462 KMT2C c.1657G>A p.D553N Substitution - Missense Large_intestine COSM162915 NIPBL c.7744C>T p.R2582* Substitution - Nonsense Large_intestine COSM4940495 PHC3 c.1540C>G p.Q514E Substitution - Missense Liver COSM1264010 RERE c.3697G>A p.E1233K Substitution - Missense Stomach COSM5046624 ATXN7 c.430G>A p.D144N Substitution - Missense Oesophagus COSM5375649 BAZ2A c.2832C>T p.L944L Substitution - coding silent Skin COSM2720030 CHD7 c.3017T>C p.F1006S Substitution - Missense Large_intestine COSM5711767 ATRX c.5500G>T p.V1834L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1094059 ZCWPW1 c.1710G>T p.K570N Substitution - Missense Endometrium COSM1122929 KDM5C c.3869_3874delGCCGCG p.G1290_R1291delGR Deletion - In frame Endometrium COSM1067090 PRDM9 c.1890C>T p.H630H Substitution - coding silent Endometrium COSM443930 NCOA5 c.35G>A p.R12Q Substitution - Missense Endometrium COSM4978448 SMYD4 c.853T>C p.W285R Substitution - Missense Oesophagus COSM5886418 NSD1 c.5864G>T p.G1955V Substitution - Missense Skin COSM211709 TET2 c.600_601insT p.K201fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4385373 KDM6A c.1414C>T p.Q472* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1386951 CBX8 c.949G>A p.G317R Substitution - Missense Large_intestine COSM957494 EZH2 c.13G>T p.G5W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6003150 JMJD6 c.237G>A p.W79* Substitution - Nonsense Prostate COSM187492 INOC1 c.1363G>A p.A455T Substitution - Missense Endometrium COSM5718276 SUV39H1 c.91C>T p.P31S Substitution - Missense Skin COSM5690913 ATAD2 c.2446G>T p.A816S Substitution - Missense Soft_tissue COSM1122941 KDM5C c.3158G>A p.G1053D Substitution - Missense Endometrium COSM1724661 TAF1 c.30G>A p.R10R Substitution - coding silent Skin COSM456580 MSL3 c.1042C>T p.L348L Substitution - coding silent Breast COSM4390114 DAXX c.309G>A p.A103A Substitution - coding silent Urinary_tract COSM3806872 TRDMT1 c.383C>T p.S128F Substitution - Missense Breast COSM4165786 ALKBH3 c.266+5G>A p.? Unknown Kidney COSM1454656 ATAD2 c.825T>A p.D275E Substitution - Missense Urinary_tract COSM1723044 CBX4 c.1198_1200delCAC p.H400delH Deletion - In frame Upper_aerodigestive_tract COSM1180774 KDM5A c.3597delA p.G1200fs*9 Deletion - Frameshift Large_intestine COSM4606322 IKZF1 c.551G>C p.R184P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13305 BRD2 c.273G>A p.W91* Substitution - Nonsense Central_nervous_system COSM6188 TRIM33 c.2968-1G>C p.? Unknown Breast COSM1624904 TAF1L c.3624T>C p.A1208A Substitution - coding silent Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM187703 MGA c.7450C>T p.R2484W Substitution - Missense Prostate COSM5700116 TDRD1 c.1654T>C p.F552L Substitution - Missense Soft_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3873508 BRPF3 c.3512G>A p.R1171H Substitution - Missense Stomach COSM709840 MUM1 c.587G>C p.G196A Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM945766 MPHOSPH8 c.1059C>A p.F353L Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1032626 SMARCB1 c.781C>T p.R261C Substitution - Missense Large_intestine COSM3769454 RSF1 c.112G>T p.D38Y Substitution - Missense Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5615673 DAXX c.34G>C p.D12H Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1197296 KMT2A c.10721C>A p.T3574K Substitution - Missense Lung COSM88748 CREBBP c.4337G>A p.R1446H Substitution - Missense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4712699 RNF134 c.300C>A p.D100E Substitution - Missense Large_intestine COSM929392 PHRF1 c.3714C>T p.P1238P Substitution - coding silent Endometrium COSM1081872 PHIP c.874G>T p.D292Y Substitution - Missense Endometrium COSM1308206 EP300 c.4154G>A p.C1385Y Substitution - Missense Urinary_tract COSM4742984 ZMYND8 c.2013G>A p.T671T Substitution - coding silent Large_intestine COSM5716982 LBR c.28G>T p.E10* Substitution - Nonsense Skin COSM3608576 PHF15 c.1784G>A p.R595Q Substitution - Missense Prostate COSM971076 GLYR1 c.1189G>A p.G397R Substitution - Missense Endometrium COSM52863 PBRM1 c.835delA p.I279fs*4 Deletion - Frameshift Stomach COSM3563676 BRWD3 c.3851C>T p.S1284L Substitution - Missense Skin COSM2802651 KDM6B c.4734C>T p.C1578C Substitution - coding silent Large_intestine COSM4459836 TRRAP c.11340C>T p.S3780S Substitution - coding silent Skin COSM6006433 SMARCA4 c.? p.K1219* Substitution - Nonsense Thyroid COSM3690934 SRCAP c.9617G>A p.R3206H Substitution - Missense Large_intestine COSM3091614 SMARCA2 c.633G>A p.T211T Substitution - coding silent Liver COSM4851274 SETMAR c.64G>A p.E22K Substitution - Missense Cervix COSM4127509 PRDM4 c.1924+2T>C p.? Unknown Oesophagus COSM1716555 ASXL1 c.1954G>A p.G652S Substitution - Missense Breast COSM1081857 PHIP c.3503T>G p.I1168S Substitution - Missense Endometrium COSM1304292 DOT1L c.618G>A p.M206I Substitution - Missense Urinary_tract COSM1489757 GTF3C4 c.779A>G p.Q260R Substitution - Missense Breast COSM1311076 PRDM9 c.1886G>C p.R629T Substitution - Missense Bone COSM1420489 MECOM c.709_711delAGG p.R237delR Deletion - In frame Large_intestine COSM5748877 BAZ2B c.1291C>T p.R431W Substitution - Missense Pancreas COSM5598775 SETD1B c.804C>T p.F268F Substitution - coding silent Skin COSM131496 SMARCA4 c.4471C>T p.R1491* Substitution - Nonsense Stomach COSM6014909 HDAC7 c.662C>T p.P221L Substitution - Missense Skin COSM132968 ASXL1 c.? p.E635fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM3667697 ORC1 c.808G>A p.E270K Substitution - Missense Liver COSM4791259 KDM1A c.1193A>G p.K398R Substitution - Missense Liver COSM392804 SETD2 c.1951_1954delGATA p.D651fs*22 Deletion - Frameshift Lung COSM5366301 PRDM15 c.1547C>T p.P516L Substitution - Missense Large_intestine COSM4171962 ZMYM3 c.2204G>A p.W735* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5986664 NCOR1 c.5054_5057delAGAT p.Q1685fs*76 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM474450 DOT1L c.3509G>A p.R1170Q Substitution - Missense Kidney COSM4735983 TRIM24 c.508G>A p.A170T Substitution - Missense Large_intestine COSM417841 SETBP1 c.1096G>A p.E366K Substitution - Missense Prostate COSM1123265 PHF8 c.2593C>T p.R865W Substitution - Missense Endometrium COSM3370737 EZH1 c.1925A>T p.Y642F Substitution - Missense Thyroid COSM4796206 ASH1L c.5042G>A p.S1681N Substitution - Missense Liver COSM25668 MGA c.878G>A p.R293H Substitution - Missense Kidney COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43420 TET2 c.4546C>T p.R1516* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM43478 TET2 c.(1842_1844)insG p.L615fs*23 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM75196 L3MBTL2 c.86G>A p.G29D Substitution - Missense Ovary COSM71396 L3MBTL3 c.1051G>T p.A351S Substitution - Missense Ovary COSM133132 DNMT3A c.2192T>G p.F731C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM141638 SMC1A c.544A>G p.T182A Substitution - Missense Upper_aerodigestive_tract COSM145114 ASXL1 c.1552G>T p.E518* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM147408 APOBEC1 c.534C>T p.Y178Y Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM41706 TET2 c.4354C>T p.R1452* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41706 TET2 c.4354C>T p.R1452* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM163194 ORC1 c.1192C>G p.L398V Substitution - Missense Breast COSM184380 GTF3C1 c.3733C>T p.R1245C Substitution - Missense Stomach COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Central_nervous_system COSM249135 DNMT3A c.1628G>T p.G543V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM249215 KDM5C c.142C>T p.P48S Substitution - Missense Kidney COSM249222 KMT2D c.10919_10924delAGCAAC p.Q3640_Q3641delQQ Deletion - In frame Kidney COSM254666 EP300 c.2620C>T p.Q874* Substitution - Nonsense Urinary_tract COSM254943 SP110 c.806C>G p.S269C Substitution - Missense Urinary_tract COSM292227 SETD4 c.30G>A p.R10R Substitution - coding silent Large_intestine COSM315431 SMARCA2 c.3613G>T p.D1205Y Substitution - Missense Lung COSM305403 NCOA7 c.2465G>A p.R822Q Substitution - Missense Soft_tissue COSM342542 BRPF3 c.1784A>T p.N595I Substitution - Missense Lung COSM334101 DNMT1 c.858C>T p.H286H Substitution - coding silent Lung COSM375536 RBBP5 c.674A>T p.Y225F Substitution - Missense Lung COSM399763 CHD3 c.5471A>C p.H1824P Substitution - Missense Lung COSM453644 TRRAP c.3647G>A p.R1216Q Substitution - Missense Breast COSM452726 KMT2C c.2722G>T p.G908C Substitution - Missense Large_intestine COSM467447 RSF1 c.3984G>A p.R1328R Substitution - coding silent Kidney COSM475424 TRIM28 c.461C>G p.T154S Substitution - Missense Kidney COSM1049748 TET2 c.1573C>A p.L525I Substitution - Missense Endometrium COSM1047214 SFMBT1 c.2016A>C p.K672N Substitution - Missense Endometrium COSM1030715 BRWD1 c.2017G>T p.D673Y Substitution - Missense Endometrium COSM939212 KDM5A c.3091C>T p.R1031C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1026856 CHD6 c.5099C>A p.P1700H Substitution - Missense Endometrium COSM928927 GLYATL1 c.327C>A p.F109L Substitution - Missense Endometrium COSM897354 HDGF c.458C>T p.A153V Substitution - Missense Endometrium COSM992329 MBD3 c.345T>G p.I115M Substitution - Missense Endometrium COSM961498 MGA c.1585G>T p.G529C Substitution - Missense Endometrium COSM1040963 MECOM c.2249G>A p.R750Q Substitution - Missense Pancreas COSM1041414 TBL1XR1 c.1015G>T p.D339Y Substitution - Missense Endometrium COSM1045691 DHX30 c.1951G>A p.D651N Substitution - Missense Endometrium COSM1124898 TAF1 c.3113G>C p.R1038P Substitution - Missense Oesophagus COSM1107171 EHMT1 c.761T>C p.V254A Substitution - Missense Endometrium COSM1100776 CHD7 c.516G>A p.P172P Substitution - coding silent Endometrium COSM1230116 TP53BP1 c.4198C>T p.R1400* Substitution - Nonsense Large_intestine COSM1250497 DNMT3A c.2172C>T p.Y724Y Substitution - coding silent Oesophagus COSM1180827 GTF3C1 c.2299delA p.S767fs*7 Deletion - Frameshift Large_intestine COSM1225360 SETD2 c.23C>A p.S8Y Substitution - Missense Large_intestine COSM1296222 ARID1A c.1901C>G p.S634* Substitution - Nonsense Urinary_tract COSM1323508 BAZ1A c.4320A>G p.Q1440Q Substitution - coding silent Ovary COSM1378322 CHD9 c.7288delA p.R2432fs*8 Deletion - Frameshift Stomach COSM1387297 BAHCC1 c.6602G>A p.R2201Q Substitution - Missense Large_intestine COSM1437301 NIPBL c.6035T>C p.F2012S Substitution - Missense Large_intestine COSM1443751 RING1 c.1121C>T p.T374M Substitution - Missense Large_intestine COSM1356357 KDM2A c.1905T>C p.F635F Substitution - coding silent Large_intestine COSM1521597 AKAP1 c.2503G>A p.D835N Substitution - Missense Large_intestine COSM1615833 DIDO1 c.2536G>T p.A846S Substitution - Missense Stomach COSM1619530 KDM3B c.1553A>G p.D518G Substitution - Missense Liver COSM1638637 SFMBT2 c.769T>C p.S257P Substitution - Missense Stomach COSM1644522 CTCF c.1979A>G p.N660S Substitution - Missense Salivary_gland COSM1644778 KMT2C c.315T>G p.I105M Substitution - Missense Salivary_gland COSM1679709 SUZ12 c.1702A>G p.S568G Substitution - Missense Large_intestine COSM1679709 SUZ12 c.1702A>G p.S568G Substitution - Missense Large_intestine COSM1720632 TAF1L c.1969C>T p.P657S Substitution - Missense Skin COSM1716414 CTCF c.610_611insA p.T204fs*26 Insertion - Frameshift Endometrium COSM1665077 ZCWPW2 c.656G>T p.R219M Substitution - Missense Kidney COSM1936693 BAZ2A_ENST00000379441 c.677T>C p.V226A Substitution - Missense Large_intestine COSM2041411 KDM2A c.2916C>T p.L972L Substitution - coding silent Large_intestine COSM2183554 POGZ c.3115C>T p.R1039C Substitution - Missense Prostate COSM2221619 EED c.413A>T p.Y138F Substitution - Missense Large_intestine COSM2192909 ORC1 c.377C>T p.A126V Substitution - Missense Large_intestine COSM2828784 SETD5_ENST00000402198 c.1518C>T p.S506S Substitution - coding silent Large_intestine COSM3294781 EYA2 c.829G>A p.E277K Substitution - Missense Skin COSM3365771 NIPBL c.8274A>G p.K2758K Substitution - coding silent Kidney COSM3376183 EP400 c.5065G>A p.G1689R Substitution - Missense Large_intestine COSM3509563 CREBBP c.2064G>A p.P688P Substitution - coding silent Skin COSM3508234 GTF3C1 c.1147G>A p.G383R Substitution - Missense Skin COSM3488857 ZMYM6 c.1504C>T p.L502F Substitution - Missense Skin COSM3460974 ARID2 c.3121C>T p.Q1041* Substitution - Nonsense Skin COSM3630863 ACTL6B c.712G>A p.E238K Substitution - Missense Skin COSM3615190 PRDM9 c.331G>A p.E111K Substitution - Missense Skin COSM3615206 PRDM9 c.957G>A p.V319V Substitution - coding silent Skin COSM3660324 MECOM c.744T>A p.G248G Substitution - coding silent Liver COSM3650731 EYA1 c.614C>T p.S205F Substitution - Missense Skin COSM3740646 SETDB1 c.2738A>C p.D913A Substitution - Missense Liver COSM3746340 YY1 c.225T>C p.H75H Substitution - coding silent Prostate COSM3799041 MSH6 c.2067C>G p.F689L Substitution - Missense Urinary_tract COSM3840991 ACTR5 c.1731C>T p.I577I Substitution - coding silent Oesophagus COSM3906527 SMARCA2 c.1998C>T p.S666S Substitution - coding silent Stomach COSM3875088 PHF3 c.4842T>C p.S1614S Substitution - coding silent Stomach COSM3902421 TDRD7 c.1509T>C p.S503S Substitution - coding silent Stomach COSM3873172 DAXX c.767G>A p.R256H Substitution - Missense Large_intestine COSM3986418 SUV420H1 c.2408G>T p.S803I Substitution - Missense Kidney COSM4081546 SUV420H2 c.497C>A p.T166N Substitution - Missense Stomach COSM4118005 SETD2 c.3506+2T>C p.? Unknown Stomach COSM4075934 GATAD2A c.602G>A p.R201Q Substitution - Missense Liver COSM4129608 NCOR1 c.571G>A p.E191K Substitution - Missense Upper_aerodigestive_tract COSM4145728 PHF21A c.975C>A p.S325R Substitution - Missense Upper_aerodigestive_tract COSM4161255 TDRD6 c.599T>G p.V200G Substitution - Missense Upper_aerodigestive_tract COSM4163512 WDR5 c.911T>G p.V304G Substitution - Missense Thyroid COSM4168948 BAZ2A c.4375C>G p.L1459V Substitution - Missense Liver COSM4288486 TRIM28 c.2433G>C p.E811D Substitution - Missense Upper_aerodigestive_tract COSM4383713 MECOM c.2524G>A p.A842T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4550865 MECP2 c.475G>A p.V159I Substitution - Missense Skin COSM4520538 HDAC6 c.1063G>A p.E355K Substitution - Missense Skin COSM4731996 TAF3 c.222G>A p.G74G Substitution - coding silent Large_intestine COSM4666251 BRWD1 c.2358A>G p.S786S Substitution - coding silent Large_intestine COSM4663242 ARID1B c.1857G>A p.T619T Substitution - coding silent Large_intestine COSM4702381 KMT2A c.2947C>A p.L983M Substitution - Missense Large_intestine COSM4702424 KMT2D c.11769G>A p.T3923T Substitution - coding silent Large_intestine COSM4766637 ARID4A c.2095G>A p.D699N Substitution - Missense Stomach COSM4747396 BPTF c.2590delA p.E867fs*16 Deletion - Frameshift Stomach COSM4751604 ARID1A c.6526C>T p.Q2176* Substitution - Nonsense Endometrium COSM4790382 SCMH1 c.864T>A p.P288P Substitution - coding silent Liver COSM4794534 ARID1B c.4253G>A p.G1418E Substitution - Missense Liver COSM4883802 TAF1 c.2221C>A p.Q741K Substitution - Missense Upper_aerodigestive_tract COSM4888979 MPHOSPH8 c.1396C>T p.R466W Substitution - Missense Upper_aerodigestive_tract COSM4940811 KIAA2026_ENST00000399933 c.5352T>C p.T1784T Substitution - coding silent Liver COSM4825585 MORF4L1 c.9G>A p.P3P Substitution - coding silent Cervix COSM4824378 ATRX c.2232G>A p.M744I Substitution - Missense Cervix COSM4826526 SCML2 c.921G>C p.R307S Substitution - Missense Cervix COSM4954296 SETD5_ENST00000402198 c.1117A>G p.I373V Substitution - Missense Liver COSM4950303 PHF14 c.1829A>G p.H610R Substitution - Missense Liver COSM4960907 BPTF c.5389G>A p.A1797T Substitution - Missense Liver COSM5001343 PRDM2 c.1414G>A p.V472I Substitution - Missense Pancreas COSM4993962 PHF8 c.496G>A p.A166T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4995436 ARID1A c.2864C>T p.A955V Substitution - Missense Upper_aerodigestive_tract COSM5028763 PRDM15 c.1245C>A p.P415P Substitution - coding silent Breast COSM5019942 SETBP1 c.4000+10T>A p.? Unknown Soft_tissue COSM5009138 MYST3 c.2701G>T p.E901* Substitution - Nonsense Large_intestine COSM5041478 SMEK1 c.1495G>C p.V499L Substitution - Missense Liver COSM5400135 BRPF1 c.903C>T p.H301H Substitution - coding silent Skin COSM5503275 TRRAP c.8587G>A p.A2863T Substitution - Missense Biliary_tract COSM5511506 SCMH1 c.473G>A p.R158Q Substitution - Missense Biliary_tract COSM5487638 SETD2 c.4538G>A p.W1513* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5437477 SP100 c.476A>G p.E159G Substitution - Missense Oesophagus COSM5459150 KDM3B c.2768G>A p.R923Q Substitution - Missense Large_intestine COSM5423984 BAHCC1 c.4956C>T p.A1652A Substitution - coding silent Prostate COSM5759754 MBD3 c.319A>C p.I107L Substitution - Missense Bone COSM5756656 NIPBL c.3518A>C p.K1173T Substitution - Missense Large_intestine COSM5723996 BRD3 c.640C>T p.P214S Substitution - Missense Skin COSM5716556 SMARCD2 c.528C>T p.L176L Substitution - coding silent Skin COSM5742931 ZCWPW2 c.244T>A p.S82T Substitution - Missense Small_intestine COSM5593371 TAF1L c.1603G>A p.E535K Substitution - Missense Skin COSM5602070 PHF15 c.1278C>T p.F426F Substitution - coding silent Skin COSM5619858 CHD7 c.2054C>A p.A685E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5602269 SETBP1 c.3071A>T p.K1024I Substitution - Missense Skin COSM5600338 RAI1 c.5001C>T p.S1667S Substitution - coding silent Skin COSM5684241 ACTB c.502G>T p.G168W Substitution - Missense Soft_tissue COSM5686762 PRDM13 c.4C>A p.H2N Substitution - Missense Soft_tissue COSM5752519 KMT2C c.1381C>T p.Q461* Substitution - Nonsense Breast COSM5696035 GTF3C1 c.5878A>G p.T1960A Substitution - Missense Soft_tissue COSM5751081 CDYL c.1153G>A p.D385N Substitution - Missense Stomach COSM5549277 DNMT3A c.760G>A p.A254T Substitution - Missense Prostate COSM5785829 SMCHD1 c.701G>A p.G234E Substitution - Missense Breast COSM5833955 NCOA6 c.2411delC p.P804fs*14 Deletion - Frameshift Breast COSM5878968 TET2 c.2072_2081del10 p.T691fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5809790 BRD7 c.634A>T p.K212* Substitution - Nonsense Liver COSM5810189 PRDM4 c.1253A>T p.Q418L Substitution - Missense Liver COSM41747 TET2 c.3897G>C p.K1299N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5885539 MYST3 c.4348C>G p.L1450V Substitution - Missense Urinary_tract COSM5913560 CHD8 c.1968+6G>A p.? Unknown Skin COSM5913637 YY1 c.878C>T p.P293L Substitution - Missense Skin COSM5999138 KAT6B c.4422A>G p.L1474L Substitution - coding silent Prostate COSM6003454 DOT1L c.1544T>A p.L515Q Substitution - Missense Prostate COSM6008964 KMT2D c.239G>A p.R80Q Substitution - Missense Large_intestine COSM41901 TET2 c.? p.R1216* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM85769 EZH2 c.? p.Y646? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM42025 TET2 c.? p.R1465* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4167250 TET2 c.? p.S890A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41709 TET2 c.4317_4318insA p.R1440fs*38 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM52950 DNMT3A c.? p.R729W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM97048 IDH2 c.? p.R140? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1711595 LMNB2 c.1622G>A p.R541H Substitution - Missense Skin COSM3731657 NCOA6 c.4673C>T p.S1558F Substitution - Missense Stomach COSM4958267 SMARCA2 c.2336T>C p.I779T Substitution - Missense Liver COSM4119162 PBRM1 c.2156A>G p.Q719R Substitution - Missense Stomach COSM4794479 CHD6 c.7634C>T p.T2545I Substitution - Missense Liver COSM5913114 SFMBT2 c.1666G>A p.G556R Substitution - Missense Skin COSM420318 ATXN7 c.1504G>A p.E502K Substitution - Missense Urinary_tract COSM3381778 ING3 c.282G>C p.L94F Substitution - Missense Pancreas COSM1088640 STK31 c.1773G>T p.K591N Substitution - Missense Endometrium COSM5912006 SMARCC1 c.1840-5C>T p.? Unknown Skin COSM1443803 PHF1 c.1367C>A p.P456H Substitution - Missense Large_intestine COSM1232738 WHSC1 c.1979G>A p.R660Q Substitution - Missense Testis COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Upper_aerodigestive_tract COSM4514665 PRMT8 c.983C>T p.P328L Substitution - Missense Skin COSM309541 BRWD3 c.892C>A p.H298N Substitution - Missense Lung COSM2929511 TFPT c.614C>T p.A205V Substitution - Missense Large_intestine COSM3842758 EP300 c.775C>T p.Q259* Substitution - Nonsense Breast COSM3358385 ARID1A c.5180_5181delTC p.F1728fs*7 Deletion - Frameshift Kidney COSM1125826 BRWD3 c.3728+1G>A p.? Unknown Endometrium COSM1302465 RAI1 c.1428T>G p.H476Q Substitution - Missense Urinary_tract COSM4959088 BRPF3 c.2525G>A p.G842E Substitution - Missense Liver COSM5011495 KDM3B c.655G>C p.V219L Substitution - Missense Kidney COSM5599706 ING1 c.542C>T p.A181V Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM30383 KMT2D c.6185C>T p.T2062I Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4121139 TET2 c.3409+2T>C p.? Unknown Stomach COSM4763518 PHC3 c.127G>T p.D43Y Substitution - Missense Stomach COSM6018833 HCFC1 c.3118C>G p.R1040G Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Small_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4101713 PRDM15 c.2193C>T p.L731L Substitution - coding silent Stomach COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Biliary_tract COSM3860669 KDM1B c.1127T>C p.V376A Substitution - Missense Stomach COSM5496933 ASXL3 c.17T>A p.I6N Substitution - Missense Biliary_tract COSM1221904 PRDM9 c.153T>A p.Y51* Substitution - Nonsense Large_intestine COSM4904511 SRCAP c.7810C>G p.P2604A Substitution - Missense Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1099537 ASH2L c.1025G>A p.R342Q Substitution - Missense Endometrium COSM41292 IDH1 c.? p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5024116 ARID1A c.3221G>A p.R1074Q Substitution - Missense Bone COSM41294 IDH1 c.? p.R132C Substitution - Missense Bone COSM1639021 PRDM4 c.199G>A p.A67T Substitution - Missense Stomach COSM1622429 JHDM1D c.2807A>T p.H936L Substitution - Missense Liver COSM961204 BAHD1 c.670C>T p.R224W Substitution - Missense Endometrium COSM4806297 ZMYM3 c.3593A>T p.K1198M Substitution - Missense Liver COSM3296244 EPC2 c.45G>A p.K15K Substitution - coding silent Upper_aerodigestive_tract COSM5660787 KMT2D c.10174_10175delAT p.M3392fs*12 Deletion - Frameshift Soft_tissue COSM4591233 NCOR1 c.534G>C p.K178N Substitution - Missense Upper_aerodigestive_tract COSM3794181 TP53BP1 c.40C>T p.Q14* Substitution - Nonsense Urinary_tract COSM150428 KMT2C c.2958A>G p.P986P Substitution - coding silent Thyroid COSM1728803 BPTF c.3514A>G p.I1172V Substitution - Missense Large_intestine COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Oesophagus COSM4797379 SETD2 c.5729+1G>A p.? Unknown Liver COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85816 DAXX c.1403_1403delA p.E468fs*60 Deletion - Frameshift Pancreas COSM1751565 ZGPAT c.1069G>C p.E357Q Substitution - Missense Urinary_tract COSM4685910 FXR1 c.205T>G p.S69A Substitution - Missense Large_intestine COSM5346926 ARID1A c.1589delC p.P531fs*88 Deletion - Frameshift Endometrium COSM2154528 SETD8 c.796C>G p.P266A Substitution - Missense Central_nervous_system COSM3935951 ARID2 c.4644C>T p.G1548G Substitution - coding silent Oesophagus COSM4383931 TET2 c.3979C>T p.Q1327* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1751551 DIDO1 c.1738A>C p.T580P Substitution - Missense Urinary_tract COSM3955287 PHC1 c.2507G>A p.R836Q Substitution - Missense Lung COSM4615389 HCFC1 c.2391_2392insT p.A798fs*9 Insertion - Frameshift Large_intestine COSM684724 JMJD1C c.3005A>T p.E1002V Substitution - Missense Lung COSM1676247 SUV420H1 c.1450C>A p.L484M Substitution - Missense Large_intestine COSM907698 ARID1A c.2248C>T p.R750* Substitution - Nonsense Large_intestine COSM5454776 SUV420H2 c.652G>A p.G218S Substitution - Missense Large_intestine COSM42047 TET2 c.1954C>T p.Q652* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3919892 PRDM9 c.2054C>G p.T685R Substitution - Missense Skin COSM3855017 NIPBL c.3716A>C p.N1239T Substitution - Missense Stomach COSM1605435 ACTR6 c.515+8G>T p.? Unknown Liver COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Bone COSM4085353 MBD5 c.4408G>T p.G1470W Substitution - Missense Stomach COSM5916114 PRDM11 c.973G>T p.D325Y Substitution - Missense Skin COSM5606302 ACTB c.826G>A p.E276K Substitution - Missense Skin COSM1124870 TAF1 c.889G>A p.A297T Substitution - Missense Endometrium COSM5607142 TRIM66 c.2578C>T p.P860S Substitution - Missense Skin COSM1078022 DAXX c.955G>A p.D319N Substitution - Missense Endometrium COSM5935301 KMT2C c.1237T>A p.Y413N Substitution - Missense Skin COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1642811 CHD1 c.1494-10_1494-9insT p.? Unknown Stomach COSM4861916 BRD3 c.277A>T p.N93Y Substitution - Missense Lung COSM1087641 KMT2C c.2872-2A>G p.? Unknown Endometrium COSM1456880 ASH2L c.1758G>A p.P586P Substitution - coding silent Large_intestine COSM3877920 SND1 c.2547C>T p.G849G Substitution - coding silent Prostate COSM4938936 YY1 c.921C>G p.F307L Substitution - Missense Liver COSM4847314 HCFC1 c.733C>T p.R245C Substitution - Missense Cervix COSM3524743 AP001011.3_ENST00000320876 c.2480C>T p.S827L Substitution - Missense Skin COSM3705783 RBBP4 c.221A>G p.D74G Substitution - Missense Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33731 IDH2 c.514A>G p.R172G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4725178 SETD6 c.1096delG p.G367fs*10 Deletion - Frameshift Large_intestine COSM1265318 SET c.501G>T p.T167T Substitution - coding silent Stomach COSM3716029 CHD7 c.6163C>A p.L2055M Substitution - Missense Upper_aerodigestive_tract COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1710177 PCGF2 c.763G>A p.E255K Substitution - Missense Skin COSM3364113 BRWD3 c.4146A>G p.G1382G Substitution - coding silent Kidney COSM5612174 CHD9 c.1920T>A p.I640I Substitution - coding silent Adrenal_gland COSM1008164 BAZ2B c.1664C>T p.A555V Substitution - Missense Endometrium COSM5724107 KMT2A c.34C>T p.R12* Substitution - Nonsense Skin COSM5878928 TET2 c.680delA p.T229fs*21 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM212498 RNF2 c.258A>C p.E86D Substitution - Missense Breast COSM1611157 AP001011.3_ENST00000320876 c.2853G>T p.V951V Substitution - coding silent Liver COSM4991366 ASXL1 c.1783C>T p.P595S Substitution - Missense Skin COSM211626 TET2 c.4510_4528del19 p.N1504fs*61 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3752369 PHF21A c.1043G>A p.R348H Substitution - Missense Large_intestine COSM255049 ARID1A c.5216_5249del34 p.G1740fs*19 Deletion - Frameshift Urinary_tract COSM1701035 TAF1L c.1678C>T p.L560F Substitution - Missense Skin COSM4841146 DNMT1 c.1904A>C p.Q635P Substitution - Missense Cervix COSM3615216 PRDM9 c.1482G>A p.M494I Substitution - Missense Skin COSM349183 SETD1A c.5082G>T p.P1694P Substitution - coding silent Oesophagus COSM5607852 ARID1B c.2312C>T p.P771L Substitution - Missense Skin COSM5347192 ARID1A c.?_?del? p.L2134fs*? Deletion - Frameshift Endometrium COSM219141 TET2 c.1972_1972delC p.H658fs*42 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5434309 NCOA1 c.180G>C p.L60F Substitution - Missense Oesophagus COSM1341426 ARID1A c.5542delG p.D1850fs*33 Deletion - Frameshift Stomach COSM51200 ASXL1 c.1888_1910del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3871122 EP400 c.2042C>T p.S681F Substitution - Missense Skin COSM4751661 GTF3C1 c.5222C>T p.A1741V Substitution - Missense Stomach COSM972738 PRMT7 c.1168C>T p.R390* Substitution - Nonsense Endometrium COSM133567 ASXL1 c.1749G>A p.W583* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5749394 PHIP c.2759G>C p.R920T Substitution - Missense Genital_tract COSM1684722 SETBP1 c.2608G>C p.G870R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1583126 DNMT3A c.2551_2552delTT p.F851fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4596833 TAF3 c.1928G>T p.R643I Substitution - Missense Upper_aerodigestive_tract COSM5458044 PRDM12 c.56C>T p.A19V Substitution - Missense Large_intestine COSM4397275 DNMT1 c.2354A>G p.D785G Substitution - Missense Skin COSM1093569 TRRAP c.1682C>T p.T561M Substitution - Missense Endometrium COSM4209407 SMARCC2 c.3372G>A p.P1124P Substitution - coding silent Large_intestine COSM5441975 PHF15 c.2003C>T p.A668V Substitution - Missense Oesophagus COSM988855 CXXC1 c.1887C>T p.R629R Substitution - coding silent Endometrium COSM5352302 ARID1A c.? p.G2087R Substitution - Missense Endometrium COSM41597 ASXL1 c.1899_1921del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM681943 RERE c.3951G>T p.R1317R Substitution - coding silent Large_intestine COSM3854577 PRDM9 c.2378G>A p.S793N Substitution - Missense Stomach COSM6010965 DHX30 c.61C>T p.L21F Substitution - Missense Skin COSM5064011 KIAA2026_ENST00000399933 c.6158C>T p.A2053V Substitution - Missense Stomach COSM1324244 CDYL2 c.894G>A p.L298L Substitution - coding silent Ovary COSM3487580 ARID1A c.2605G>A p.G869S Substitution - Missense Liver COSM1731840 NCOA5 c.1528G>T p.G510C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4383764 TET2 c.675delC p.L226fs*24 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2802798 CBX8 c.699C>T p.D233D Substitution - coding silent Large_intestine COSM1017644 SP100 c.544C>T p.R182* Substitution - Nonsense Biliary_tract COSM5997323 KMT2C c.9528G>T p.Q3176H Substitution - Missense Prostate COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1220376 PHF21B c.907C>T p.R303W Substitution - Missense Biliary_tract COSM703255 SRCAP c.5617C>G p.R1873G Substitution - Missense Lung COSM96371 BAP1 c.2057-4G>T p.? Unknown Pleura COSM133050 EZH2 c.434T>C p.F145S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4571683 ATRX c.5144T>A p.F1715Y Substitution - Missense Skin COSM4635618 CHD7 c.8193C>T p.A2731A Substitution - coding silent Large_intestine COSM1936630 BAZ2A_ENST00000379441 c.1634G>A p.R545H Substitution - Missense Large_intestine COSM5894869 JHDM1D c.724C>T p.P242S Substitution - Missense Skin COSM1641376 ADNP c.2321_2322delAT p.Y774fs*13 Deletion - Frameshift Stomach COSM4002747 PBRM1 c.3597A>T p.P1199P Substitution - coding silent Soft_tissue COSM3650729 EYA1 c.646C>T p.P216S Substitution - Missense Skin COSM4774449 TAF1L c.992C>T p.T331M Substitution - Missense Stomach COSM1249517 CXXC1 c.171C>A p.I57I Substitution - coding silent Oesophagus COSM43446 TET2 c.2428C>T p.Q810* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1196473 ZMYND8 c.2423C>T p.T808M Substitution - Missense Lung COSM73757 ATAD2B_ENST00000238789 c.3605C>G p.S1202C Substitution - Missense Ovary COSM1621429 BAG6 c.1169delC p.P390fs*61 Deletion - Frameshift Large_intestine COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Bone COSM329123 AIRE c.1578T>C p.D526D Substitution - coding silent Thyroid COSM1411733 ACTR5 c.1747G>A p.A583T Substitution - Missense Prostate COSM178433 AP001011.3_ENST00000320876 c.4136C>T p.A1379V Substitution - Missense Large_intestine COSM391524 SMARCA4 c.455delC p.P153fs*150 Deletion - Frameshift Lung COSM3724505 DNMT3A c.? p.G707D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4596964 TRIM66 c.601G>T p.V201L Substitution - Missense Upper_aerodigestive_tract COSM43509 TET2 c.5172T>G p.Y1724* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3903664 PHF19 c.137T>C p.V46A Substitution - Missense Stomach COSM3676523 CHD4 c.13C>T p.L5L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM260100 CHD9 c.8549T>G p.I2850S Substitution - Missense Large_intestine COSM4098302 ACTR5 c.1754G>A p.R585H Substitution - Missense Stomach COSM3619201 PRDM1 c.1849C>T p.H617Y Substitution - Missense Skin COSM52947 IDH2 c.? p.R172? Substitution - Missense Central_nervous_system COSM52947 IDH2 c.? p.R172? Substitution - Missense Central_nervous_system COSM307320 ARID1A c.3137G>A p.R1046K Substitution - Missense Liver COSM3855005 NIPBL c.1593G>A p.T531T Substitution - coding silent Stomach COSM1098848 ELP3 c.109G>A p.D37N Substitution - Missense Stomach COSM419228 BRWD1 c.2905C>T p.R969* Substitution - Nonsense Urinary_tract COSM224640 TDRKH c.1138G>A p.E380K Substitution - Missense Skin COSM1704990 ING4 c.446C>T p.S149L Substitution - Missense Skin COSM3580250 DNMT3A c.2391C>T p.N797N Substitution - coding silent Skin COSM5957982 RERE c.1763G>T p.R588L Substitution - Missense Thyroid COSM279118 BAG6 c.2642A>G p.Q881R Substitution - Missense Large_intestine COSM5804225 EYA2 c.1493T>A p.V498E Substitution - Missense Liver COSM3563155 TAF1 c.4447G>A p.E1483K Substitution - Missense Skin COSM3906534 SMARCA2 c.2604C>A p.N868K Substitution - Missense Stomach COSM4605636 EZH2 c.574G>T p.D192Y Substitution - Missense Upper_aerodigestive_tract COSM5880233 PHIP c.4381A>G p.K1461E Substitution - Missense Skin COSM5610610 SMARCA2 c.117C>T p.S39S Substitution - coding silent Skin COSM1475802 KDM2A c.1307G>A p.G436E Substitution - Missense Breast COSM1018322 TET2 c.3589_3594delAAGTGG p.K1197_W1198del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM3777932 ACTL6B c.768C>T p.I256I Substitution - coding silent Urinary_tract COSM5827142 EP400 c.8181_8182insCAGCAG p.Q2748_T2749insQQ Insertion - In frame Upper_aerodigestive_tract COSM3599587 PRDM5 c.1024C>T p.H342Y Substitution - Missense Skin COSM1357982 KDM4D c.271delA p.K93fs*4 Deletion - Frameshift Large_intestine COSM5375058 PRMT8 c.762C>T p.A254A Substitution - coding silent Skin COSM5360570 RSF1 c.1003G>C p.D335H Substitution - Missense Large_intestine COSM462183 HDAC8 c.567C>G p.F189L Substitution - Missense Cervix COSM4796950 ARID4A c.907C>T p.P303S Substitution - Missense Liver COSM1583139 DNMT3A c.2255T>G p.F752C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM720761 DNMT3A c.2375G>A p.R792H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3879527 KMT2C c.10967C>T p.A3656V Substitution - Missense Stomach COSM4993605 BRWD3 c.634delG p.G212fs*34 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM248951 HDAC4 c.2801A>G p.D934G Substitution - Missense Pancreas COSM4805141 ATXN7 c.589G>A p.G197R Substitution - Missense Liver COSM1161850 WHSC1 c.581G>T p.S194I Substitution - Missense Kidney COSM1716729 ATRX c.6565G>C p.V2189L Substitution - Missense Central_nervous_system COSM5665936 SP140_ENST00000392045 c.1871delC p.T626fs*17 Deletion - Frameshift Soft_tissue COSM5627767 SMARCC2 c.810G>C p.K270N Substitution - Missense Oesophagus COSM2029922 CHD8 c.6859_6861delAAG p.K2287delK Deletion - In frame Oesophagus COSM1107699 SMARCA2 c.1150C>T p.R384W Substitution - Missense Large_intestine COSM1312024 EHMT2 c.3601G>C p.E1201Q Substitution - Missense Urinary_tract COSM929341 PHRF1 c.1972C>T p.R658C Substitution - Missense Endometrium COSM4912824 KMT2C c.2884G>T p.V962F Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1742208 SMYD4 c.1000G>C p.E334Q Substitution - Missense Urinary_tract COSM748206 ZCWPW1 c.1587G>A p.R529R Substitution - coding silent Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2723136 MSL3 c.1064G>A p.S355N Substitution - Missense Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1301114 MGA c.4193C>G p.S1398C Substitution - Missense Urinary_tract COSM4023072 ASH1L c.224T>C p.V75A Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1700608 ATAD2 c.3658G>T p.E1220* Substitution - Nonsense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5501204 KMT2C c.11495delG p.G3832fs*57 Deletion - Frameshift Biliary_tract COSM4170144 TET2 c.4730_4731delGT p.S1577fs*36 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM289244 TDRKH c.442C>T p.R148C Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM74564 EZH1 c.2161G>A p.E721K Substitution - Missense Ovary COSM88748 CREBBP c.4337G>A p.R1446H Substitution - Missense Oesophagus COSM4387923 PRDM14 c.1679C>T p.T560I Substitution - Missense Pancreas COSM1342127 ZMYM4 c.1282delA p.K430fs*6 Deletion - Frameshift Large_intestine COSM5881463 KMT2D c.? p.R2817L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4591511 CBX4 c.670G>A p.G224S Substitution - Missense Upper_aerodigestive_tract COSM3939781 SMARCA1 c.271C>T p.R91* Substitution - Nonsense Oesophagus COSM4168274 PHF6 c.874T>C p.C292R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3984218 POGZ c.2755C>T p.P919S Substitution - Missense Kidney COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM5671725 NCOA1 c.594G>T p.R198S Substitution - Missense Soft_tissue COSM1339916 ACTA1 c.435C>T p.Y145Y Substitution - coding silent Large_intestine COSM4085351 MBD5 c.3808A>G p.K1270E Substitution - Missense Stomach COSM1749561 SRCAP c.1874G>A p.G625E Substitution - Missense Urinary_tract COSM300111 RBBP7 c.1019G>A p.R340H Substitution - Missense Large_intestine COSM21309 TRRAP c.4312C>T p.R1438W Substitution - Missense Large_intestine COSM216175 MSL3 c.1175C>T p.T392I Substitution - Missense Central_nervous_system COSM5000207 GATAD2A c.717C>A p.N239K Substitution - Missense Pancreas COSM3598858 TET2 c.2044C>T p.H682Y Substitution - Missense Skin COSM4041491 PRMT8 c.134G>A p.C45Y Substitution - Missense Stomach COSM731852 ACTR8 c.230G>A p.R77Q Substitution - Missense Lung COSM94144 DNMT3B c.113T>C p.L38P Substitution - Missense Lung COSM4023053 ASH1L c.4129G>A p.G1377R Substitution - Missense Stomach COSM3598858 TET2 c.2044C>T p.H682Y Substitution - Missense Skin COSM3906188 EHMT1 c.3325G>A p.V1109M Substitution - Missense Cervix COSM443636 ASXL1 c.2587G>C p.D863H Substitution - Missense Breast COSM3488872 ZMYM1 c.2114G>A p.G705E Substitution - Missense Skin COSM22005 NCOA3 c.2673G>A p.M891I Substitution - Missense Skin COSM21734 PCNA c.262A>G p.I88V Substitution - Missense Lung COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM40533 RAI1 c.3883C>T p.P1295S Substitution - Missense Central_nervous_system COSM24614 SMARCB1 c.286_287insC p.V96fs*10 Insertion - Frameshift Soft_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85855 MEN1 c.784-2A>G p.? Unknown Pancreas COSM53010 EZH2 c.2199C>A p.Y733* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM77927 KAT2B c.457G>A p.V153M Substitution - Missense Ovary COSM88756 CREBBP c.286C>T p.Q96* Substitution - Nonsense Urinary_tract COSM110726 BAP1 c.58G>T p.E20* Substitution - Nonsense Eye COSM108643 CHD2 c.865A>T p.N289Y Substitution - Missense Skin COSM137679 KDM4B c.2933C>T p.S978F Substitution - Missense Lung COSM159630 C5orf35 c.143C>T p.S48L Substitution - Missense Breast COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Soft_tissue COSM185057 SRCAP c.2402G>A p.R801H Substitution - Missense Oesophagus COSM245193 KDM4A c.2613C>A p.D871E Substitution - Missense Prostate COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Endometrium COSM231559 DNMT3A c.1994T>G p.V665G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM254666 EP300 c.2620C>T p.Q874* Substitution - Nonsense Urinary_tract COSM255005 KDM6A c.2959A>T p.K987* Substitution - Nonsense Urinary_tract COSM263463 RSF1 c.3814C>T p.R1272* Substitution - Nonsense Large_intestine COSM282821 MLL5 c.958G>A p.D320N Substitution - Missense Large_intestine COSM314703 RBBP5 c.682A>T p.R228* Substitution - Nonsense Lung COSM314850 RNF2 c.136C>G p.H46D Substitution - Missense Soft_tissue COSM385698 PHF1 c.127G>C p.D43H Substitution - Missense Lung COSM384940 DIDO1 c.4485G>T p.E1495D Substitution - Missense Lung COSM432835 CHD8 c.5762C>A p.P1921H Substitution - Missense Breast COSM985389 KDM6B c.4729G>A p.E1577K Substitution - Missense Endometrium COSM981678 AKAP1 c.425C>T p.S142L Substitution - Missense Endometrium COSM488464 KDM5C c.1536C>G p.C512W Substitution - Missense Kidney COSM918680 ERCC6 c.431C>T p.T144M Substitution - Missense Endometrium COSM1047097 PBRM1 c.824C>A p.S275* Substitution - Nonsense Endometrium COSM1023547 SMYD1 c.223G>A p.D75N Substitution - Missense Endometrium COSM1018631 HDAC4 c.1043C>T p.S348L Substitution - Missense Skin COSM744998 EZH2 c.2136G>A p.R712R Substitution - coding silent Lung COSM716473 MBD5 c.2482A>T p.I828F Substitution - Missense Lung COSM696918 RNF17 c.1201G>A p.D401N Substitution - Missense Lung COSM703260 SRCAP c.2236G>C p.D746H Substitution - Missense Urinary_tract COSM740038 EYA4 c.1222C>G p.R408G Substitution - Missense Lung COSM905710 KDM1A c.1433A>G p.K478R Substitution - Missense Endometrium COSM946202 RNF17 c.1297C>T p.R433W Substitution - Missense Skin COSM926752 RAG2 c.1163C>T p.A388V Substitution - Missense Endometrium COSM961216 BAHD1 c.2124C>A p.C708* Substitution - Nonsense Endometrium COSM1600197 TRRAP c.3122T>A p.F1041Y Substitution - Missense Central_nervous_system COSM1602532 ORC1 c.256G>C p.V86L Substitution - Missense Liver COSM1127893 KMT2A c.2097T>C p.A699A Substitution - coding silent Prostate COSM1667025 SETBP1 c.2607C>A p.S869R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1096247 PHF20L1 c.95G>A p.R32Q Substitution - Missense Endometrium COSM1107176 EHMT1 c.1348G>A p.E450K Substitution - Missense Endometrium COSM1167506 SMC1A c.1990delC p.R664fs*8 Deletion - Frameshift Skin COSM1266268 SMCHD1 c.2614C>T p.P872S Substitution - Missense Oesophagus COSM1225358 SETD2 c.1836A>C p.E612D Substitution - Missense Large_intestine COSM1186667 SMARCA5 c.1502G>A p.R501Q Substitution - Missense Large_intestine COSM1312268 TDRD6 c.4481G>C p.S1494T Substitution - Missense Urinary_tract COSM1327359 PRMT2 c.801C>T p.N267N Substitution - coding silent Ovary COSM1388388 SMCHD1 c.2973C>T p.G991G Substitution - coding silent Oesophagus COSM1457730 CHD7 c.5405-2A>C p.? Unknown Large_intestine COSM1458057 PRDM14 c.1223T>C p.V408A Substitution - Missense Large_intestine COSM1369007 CHD8 c.3322_3323insA p.I1108fs*7 Insertion - Frameshift Large_intestine COSM1608859 CHD2 c.2858A>G p.N953S Substitution - Missense Liver COSM1483640 CHD6 c.4008-1G>C p.? Unknown Breast COSM1626099 TAF1 c.1663-10C>G p.? Unknown Liver COSM1638573 ERCC6 c.4431T>C p.H1477H Substitution - coding silent Stomach COSM1668513 LBR c.1130G>A p.R377Q Substitution - Missense Large_intestine COSM1715720 FMR1 c.358C>T p.P120S Substitution - Missense Skin COSM1714701 SCML2 c.2099G>A p.S700N Substitution - Missense Skin COSM1717769 RAI1 c.3791A>G p.E1264G Substitution - Missense Adrenal_gland COSM1753137 KAT2B c.309G>A p.E103E Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1742271 KDM6A c.334+1G>T p.? Unknown Urinary_tract COSM1965092 KAT6B c.1353A>C p.S451S Substitution - coding silent Upper_aerodigestive_tract COSM2006752 KMT2D c.12970_12971insG p.A4324fs*12 Insertion - Frameshift Large_intestine COSM2192891 ORC1 c.1266C>T p.D422D Substitution - coding silent Large_intestine COSM2246000 ARID4A c.1409G>A p.R470Q Substitution - Missense Large_intestine COSM2802557 KDM6B c.553A>G p.K185E Substitution - Missense Oesophagus COSM2911825 DNMT3A c.862C>T p.R288W Substitution - Missense Skin COSM3069721 DHX30 c.1780G>A p.G594R Substitution - Missense Large_intestine COSM3236556 HCFC1 c.2292C>T p.T764T Substitution - coding silent Soft_tissue COSM3360116 PHF11 c.808T>G p.L270V Substitution - Missense Kidney COSM3358472 PBRM1 c.4355_4356insAA p.Q1453fs*37 Insertion - Frameshift Kidney COSM3408713 SMARCC1 c.732C>T p.V244V Substitution - coding silent Central_nervous_system COSM3505518 CHD2 c.41C>T p.S14L Substitution - Missense Skin COSM3495806 BAZ1A c.1863T>G p.C621W Substitution - Missense Skin COSM3419159 ZMYM4 c.361G>T p.E121* Substitution - Nonsense Large_intestine COSM3455335 TDG c.294T>C p.I98I Substitution - coding silent Skin COSM3474697 TDRD10 c.456G>A p.E152E Substitution - coding silent Skin COSM3656871 TAF1L c.891G>A p.V297V Substitution - coding silent Skin COSM3695422 DNMT3A c.1677C>T p.C559C Substitution - coding silent Soft_tissue COSM3700394 RNF17 c.864G>T p.L288F Substitution - Missense Liver COSM3711408 MEAF6 c.156G>C p.Q52H Substitution - Missense Upper_aerodigestive_tract COSM3733342 KMT2D c.7423_7424delAA p.K2475fs*23 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3760036 ZCWPW2 c.651G>A p.K217K Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3794528 CHD2 c.1585C>A p.Q529K Substitution - Missense Urinary_tract COSM3868802 PRDM10 c.2967C>T p.A989A Substitution - coding silent Skin COSM3869610 GLYATL1 c.360G>A p.L120L Substitution - coding silent Skin COSM3932364 CHD9 c.7221A>G p.V2407V Substitution - coding silent Urinary_tract COSM3843077 MORF4L2 c.641A>C p.H214P Substitution - Missense Breast COSM3912108 BRWD1 c.1144C>T p.R382W Substitution - Missense Skin COSM3916183 SMARCC1 c.2121C>T p.D707D Substitution - coding silent Skin COSM3952654 TAF1L c.2682G>T p.E894D Substitution - Missense Lung COSM3977618 ZMYM4 c.2001G>A p.Q667Q Substitution - coding silent Lung COSM4042334 KMT2D c.14696T>C p.I4899T Substitution - Missense Stomach COSM4085341 MBD5 c.1736T>G p.L579* Substitution - Nonsense Stomach COSM4115388 TBL1XR1 c.1007T>C p.L336S Substitution - Missense Stomach COSM4105075 HDAC10 c.1948C>A p.L650M Substitution - Missense Stomach COSM4098299 ACTR5 c.857G>A p.G286D Substitution - Missense Stomach COSM4122225 PHF17 c.1404C>A p.T468T Substitution - coding silent Stomach COSM4129053 CREBBP c.5670C>T p.P1890P Substitution - coding silent Thyroid COSM4161255 TDRD6 c.599T>G p.V200G Substitution - Missense Upper_aerodigestive_tract COSM4168948 BAZ2A c.4375C>G p.L1459V Substitution - Missense Liver COSM4168963 KDM2B c.742C>G p.R248G Substitution - Missense Peritoneum COSM4383859 TET2 c.2533delA p.E846fs*27 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4408969 SMARCA2 c.4638C>G p.D1546E Substitution - Missense Soft_tissue COSM4445241 CHD8 c.6106C>G p.P2036A Substitution - Missense Large_intestine COSM4511435 ALKBH1 c.868C>T p.P290S Substitution - Missense Skin COSM4576382 HDGF c.612C>T p.P204P Substitution - coding silent Bone COSM4577380 DMAP1 c.495C>T p.R165R Substitution - coding silent Bone COSM4566700 NCOA1 c.447_448GG>AA p.E150K Substitution - Missense Skin COSM4554164 FMR1 c.613G>A p.A205T Substitution - Missense Skin COSM4410866 KDM2B c.2805delT p.H936fs*4 Deletion - Frameshift Kidney COSM4671976 CHD3 c.242G>A p.R81Q Substitution - Missense Large_intestine COSM4705974 NCOA6 c.2944C>T p.P982S Substitution - Missense Large_intestine COSM4702048 MGMT c.452G>A p.S151N Substitution - Missense Large_intestine COSM4775084 EP300 c.7219T>C p.S2407P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4749427 SFMBT2 c.1255C>A p.P419T Substitution - Missense Stomach COSM4801997 BAZ2B c.2315A>G p.Y772C Substitution - Missense Liver COSM4778743 KDM2A c.2570A>T p.E857V Substitution - Missense Liver COSM4886773 KMT2C c.10145G>A p.R3382Q Substitution - Missense Upper_aerodigestive_tract COSM4915844 SMARCC2 c.1912C>G p.H638D Substitution - Missense Liver COSM4927118 PRDM16 c.3762G>A p.L1254L Substitution - coding silent Liver COSM4876549 KIAA2026_ENST00000399933 c.5658T>A p.P1886P Substitution - coding silent Prostate COSM4963469 TP53BP1 c.1638G>C p.E546D Substitution - Missense Pancreas COSM4980397 ACTL6A c.740C>T p.T247M Substitution - Missense Oesophagus COSM5019699 HNF1A c.864G>C p.G288G Substitution - coding silent Soft_tissue COSM5480289 NCOA2 c.3389C>T p.A1130V Substitution - Missense Large_intestine COSM5433302 KIAA1045 c.890G>A p.R297Q Substitution - Missense Oesophagus COSM5647665 MECOM c.1345G>C p.E449Q Substitution - Missense Oesophagus COSM5651542 DHX30 c.1482C>T p.I494I Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5724322 SMARCA4 c.233C>T p.S78F Substitution - Missense Skin COSM5586203 PHF3 c.34C>T p.P12S Substitution - Missense Skin COSM5662110 ARID1A c.105G>T p.A35A Substitution - coding silent Soft_tissue COSM5565117 L3MBTL4 c.67C>T p.R23C Substitution - Missense Prostate COSM5820305 CHD9 c.959A>T p.E320V Substitution - Missense Liver COSM5797081 KDM3B c.3464C>G p.S1155C Substitution - Missense Breast COSM5935887 KDM5A c.4868C>T p.P1623L Substitution - Missense Skin COSM5893907 BPTF c.3049G>A p.E1017K Substitution - Missense Skin COSM5965851 BPTF c.3856A>G p.N1286D Substitution - Missense Breast COSM5966029 MBD5 c.3547G>A p.E1183K Substitution - Missense Breast COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM1169382 EZH2 c.? p.R690H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4167254 TET2 c.? p.P1013fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1169687 TET2 c.? p.S1630* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5347200 ARID1A c.?_?del? p.A1517fs*? Deletion - Frameshift Endometrium COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5590847 EZH2 c.251C>T p.S84L Substitution - Missense Skin COSM5782382 PBRM1 c.3692-7C>G p.? Unknown Breast COSM1449848 HDAC9 c.2539C>T p.R847C Substitution - Missense Large_intestine COSM5747814 KDM6B c.3753G>C p.Q1251H Substitution - Missense Pancreas COSM3993217 BAP1 c.812T>C p.I271T Substitution - Missense Kidney COSM3698653 ZCWPW1 c.1725A>G p.S575S Substitution - coding silent Large_intestine COSM87117 TET2 c.3409+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM2007241 KMT2D c.3732G>T p.E1244D Substitution - Missense Large_intestine COSM5449527 BAZ2B c.5063C>A p.A1688D Substitution - Missense Large_intestine COSM231055 PRDM9 c.1790C>G p.T597S Substitution - Missense Prostate COSM30388 KDM5C c.352-4_367del20 p.? Unknown Kidney COSM3447390 PRDM11 c.510C>T p.I170I Substitution - coding silent Skin COSM5924884 TTF2 c.1489C>T p.R497C Substitution - Missense Skin COSM4651355 LMNB2 c.1180G>A p.V394I Substitution - Missense Large_intestine COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Soft_tissue COSM5051456 EP400 c.511G>A p.V171M Substitution - Missense Stomach COSM430521 HNF1A c.51C>G p.L17L Substitution - coding silent Liver COSM3365372 PBRM1 c.3182C>A p.S1061* Substitution - Nonsense Kidney COSM3824308 BAP1 c.1730-1G>T p.? Unknown Breast COSM53092 DNMT3A c.1768_1768delG p.G590fs*61 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1008156 BAZ2B c.3594G>T p.K1198N Substitution - Missense Endometrium COSM1377813 CREBBP c.5770G>A p.V1924M Substitution - Missense Large_intestine COSM318349 EP300 c.4508A>C p.Y1503S Substitution - Missense Oesophagus COSM4171998 EP300 c.? p.C369F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5048224 KDM6A c.2125delC p.Q709fs*6 Deletion - Frameshift Oesophagus COSM1399854 EPC2 c.200delA p.E70fs*39 Deletion - Frameshift Large_intestine COSM4152492 PBRM1 c.2254C>G p.L752V Substitution - Missense Kidney COSM5708968 TET2 c.4011delT p.Y1337fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1619760 HDAC3 c.980-3A>T p.? Unknown Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1034528 EP300 c.2124A>G p.P708P Substitution - coding silent Endometrium COSM3301685 CLOCK c.1304G>A p.R435Q Substitution - Missense Oesophagus COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Soft_tissue COSM6007683 PHRF1 c.3959G>A p.R1320K Substitution - Missense Prostate COSM4895370 EYA1 c.113A>G p.N38S Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1088804 CBX3 c.93C>T p.V31V Substitution - coding silent Endometrium COSM5510159 TDRD6 c.4738G>T p.E1580* Substitution - Nonsense Biliary_tract COSM3756294 SMARCA4 c.4584C>T p.D1528D Substitution - coding silent Liver COSM1756924 CREBBP c.6513G>A p.L2171L Substitution - coding silent Urinary_tract COSM4488283 DNMT1 c.3255C>T p.F1085F Substitution - coding silent Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Biliary_tract COSM1316292 PHIP c.2033C>T p.T678I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3386599 ARID4A c.1275A>C p.E425D Substitution - Missense Pancreas COSM5621506 PHRF1 c.2992T>C p.S998P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4915923 PHIP c.2667A>G p.K889K Substitution - coding silent Liver COSM3995871 PHF20L1 c.710G>C p.R237T Substitution - Missense Kidney COSM3619191 PRDM1 c.1131C>T p.F377F Substitution - coding silent Skin COSM1287834 SETD8 c.1044G>A p.P348P Substitution - coding silent Thyroid COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5928778 ARID1B c.2158+1G>A p.? Unknown Skin COSM1703070 TDRD1 c.1850G>A p.G617E Substitution - Missense Skin COSM1666833 CBX4 c.1514T>C p.V505A Substitution - Missense Liver COSM4002744 PBRM1 c.4335A>G p.P1445P Substitution - coding silent Soft_tissue COSM122929 EZH2 c.791T>G p.I264R Substitution - Missense Upper_aerodigestive_tract COSM4713952 PHF16 c.1718T>C p.V573A Substitution - Missense Large_intestine COSM1363345 MBD6 c.2074delC p.Q694fs*5 Deletion - Frameshift Stomach COSM1560994 RNF134 c.83_84insGCCTCC p.P28_V29insPP Insertion - In frame Large_intestine COSM5760954 KMT2D c.2687A>G p.Y896C Substitution - Missense Pancreas COSM3995466 KMT2C c.2321C>G p.A774G Substitution - Missense Kidney COSM1348653 SIRT1 c.1021C>T p.R341C Substitution - Missense Skin COSM5723832 PRDM1 c.1618G>A p.E540K Substitution - Missense Skin COSM4423035 ATRX c.5406_5407insA p.R1803fs*7 Insertion - Frameshift Large_intestine COSM3998512 PHRF1 c.3894G>A p.P1298P Substitution - coding silent Thyroid COSM1348653 SIRT1 c.1021C>T p.R341C Substitution - Missense Large_intestine COSM4755029 ERCC6 c.3164A>C p.K1055T Substitution - Missense Stomach COSM4736014 TRIM28 c.1039C>T p.R347C Substitution - Missense Large_intestine COSM5965344 BRPF1 c.634G>A p.E212K Substitution - Missense Breast COSM2772188 TAF1L c.4800G>A p.K1600K Substitution - coding silent Large_intestine COSM908668 ZMYM4 c.806T>C p.L269P Substitution - Missense Endometrium COSM1662866 MSL3 c.250C>T p.R84C Substitution - Missense Stomach COSM5027578 ARID2 c.2224_2225delTC p.S742fs*6 Deletion - Frameshift Breast COSM3426739 KDM3A c.3037G>A p.E1013K Substitution - Missense Large_intestine COSM5387305 ZBTB4 c.2920C>T p.P974S Substitution - Missense Skin COSM1680345 SETBP1 c.2652G>T p.K884N Substitution - Missense Large_intestine COSM5347213 ARID1A c.?_?del? p.H1960fs*? Deletion - Frameshift Endometrium COSM3390769 ZMYM3 c.3331C>T p.L1111F Substitution - Missense Pancreas COSM3369321 ASH1L c.278C>G p.A93G Substitution - Missense Thyroid COSM96346 DNMT3A c.?_?del? p.D768fs*? Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4755467 ACTR8 c.1239G>T p.Q413H Substitution - Missense Stomach COSM5886507 ACTL6B c.748T>G p.Y250D Substitution - Missense Skin COSM5780542 SUV39H2 c.618G>A p.K206K Substitution - coding silent Breast COSM1433322 BRD8 c.1592C>G p.A531G Substitution - Missense Large_intestine COSM4912567 NIPBL c.1164T>A p.N388K Substitution - Missense Liver COSM1569866 PHF2 c.2562C>T p.V854V Substitution - coding silent Large_intestine COSM168759 TRIM24 c.2161C>T p.R721* Substitution - Nonsense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1103 SMARCB1 c.?_?del? p.?del Deletion - In frame Soft_tissue COSM4954947 HDAC2 c.1115G>A p.R372H Substitution - Missense Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3662782 ZCWPW1 c.1318+10A>G p.? Unknown Liver COSM3460967 ARID2 c.1825C>T p.Q609* Substitution - Nonsense Skin COSM3705783 RBBP4 c.221A>G p.D74G Substitution - Missense Liver COSM3362397 KDM6B c.4078G>T p.G1360C Substitution - Missense Kidney COSM4693820 JHDM1D c.2354A>G p.Y785C Substitution - Missense Large_intestine COSM1641564 TCF20 c.4119G>A p.A1373A Substitution - coding silent Stomach COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4788379 NSD1 c.1119T>A p.S373S Substitution - coding silent Liver COSM4774720 ARID4A c.3212-7A>T p.? Unknown Skin COSM122202 CLOCK c.1923T>G p.S641R Substitution - Missense Upper_aerodigestive_tract COSM4591210 PRDM14 c.187G>C p.A63P Substitution - Missense Upper_aerodigestive_tract COSM196575 RSF1 c.2530C>T p.R844* Substitution - Nonsense Skin COSM5440148 ATRX c.4114A>C p.R1372R Substitution - coding silent Oesophagus COSM2803151 CHD3 c.4122C>T p.F1374F Substitution - coding silent Skin COSM4015917 KAT6B c.2467C>T p.P823S Substitution - Missense Stomach COSM5910094 SMARCA1 c.2722G>A p.E908K Substitution - Missense Skin COSM993343 GATAD2A c.1344C>T p.G448G Substitution - coding silent Endometrium COSM3358526 PBRM1 c.2495delA p.N832fs*23 Deletion - Frameshift Kidney COSM2154854 HDAC4 c.581G>C p.C194S Substitution - Missense Central_nervous_system COSM262033 KMT2A c.2207G>T p.R736M Substitution - Missense Large_intestine COSM468037 EP400 c.8226A>G p.Q2742Q Substitution - coding silent Prostate COSM39777 SMARCA2 c.1333C>T p.R445C Substitution - Missense Central_nervous_system COSM1717423 BAP1 c.? p.? Unknown Pleura COSM687401 RAG2 c.286G>T p.G96W Substitution - Missense Lung COSM5361085 RSF1 c.3269G>A p.R1090Q Substitution - Missense Large_intestine COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3817966 CREBBP c.360G>A p.K120K Substitution - coding silent Breast COSM5892521 ASH1L c.1077A>T p.L359F Substitution - Missense Skin COSM346893 HDAC9 c.1541G>A p.G514E Substitution - Missense Skin COSM4671948 CHD1 c.1178G>A p.R393H Substitution - Missense Large_intestine COSM224427 KMT2D c.3823G>A p.D1275N Substitution - Missense Skin COSM219142 TET2 c.481_482insT p.K161fs*10 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM136541 TDRD6 c.532C>T p.R178C Substitution - Missense Skin COSM221609 TET2 c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5375654 BAZ2A_ENST00000379441 c.107delA p.N36fs*5 Deletion - Frameshift Skin COSM198796 PHF2 c.1468delA p.K492fs*6 Deletion - Frameshift Prostate COSM42016 TET2 c.4393C>T p.R1465* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM709114 L3MBTL4 c.385A>T p.T129S Substitution - Missense Lung COSM198796 PHF2 c.1468delA p.K492fs*6 Deletion - Frameshift Biliary_tract COSM4120740 BRPF1 c.2805G>C p.G935G Substitution - coding silent Stomach COSM247471 SMEK2 c.1747T>C p.Y583H Substitution - Missense Prostate COSM350606 ATAD2B_ENST00000238789 c.2569G>C p.D857H Substitution - Missense Lung COSM4232589 LBR c.947G>C p.G316A Substitution - Missense Large_intestine COSM256007 PHF6 c.? p.H136fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM480162 SETD2 c.3364C>T p.R1122C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM198796 PHF2 c.1468delA p.K492fs*6 Deletion - Frameshift Large_intestine COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3883768 TRRAP c.9183A>G p.A3061A Substitution - coding silent Stomach COSM4805736 PRDM5 c.643C>A p.Q215K Substitution - Missense Liver COSM3973454 MECP2 c.261C>T p.I87I Substitution - coding silent Central_nervous_system COSM3413189 TDRD7 c.1591C>A p.R531R Substitution - coding silent Central_nervous_system COSM5021085 KDM5A c.4435C>A p.P1479T Substitution - Missense Soft_tissue COSM3906170 EHMT1 c.1782C>T p.S594S Substitution - coding silent Stomach COSM4475788 MECOM c.1452C>T p.Y484Y Substitution - coding silent Skin COSM4444577 PHF12 c.2996G>A p.R999H Substitution - Missense Large_intestine COSM1583079 DNMT3A c.1743G>A p.W581* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5721663 TRIM66 c.3380C>T p.S1127F Substitution - Missense Skin COSM312955 MSH6 c.264T>G p.C88W Substitution - Missense Soft_tissue COSM5494317 MECP2 c.1357C>T p.R453* Substitution - Nonsense Biliary_tract COSM2067851 ARID2 c.3470C>T p.S1157L Substitution - Missense Skin COSM145335 DPF2 c.665C>T p.P222L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3578894 SP140_ENST00000392045 c.842G>A p.R281K Substitution - Missense Skin COSM920538 KAT6B c.5511C>T p.S1837S Substitution - coding silent Endometrium COSM5060160 PRMT10 c.658G>A p.V220M Substitution - Missense Stomach COSM5496928 L3MBTL4 c.590A>G p.K197R Substitution - Missense Biliary_tract COSM251355 ARID1A c.6572_6580delGTATCGGCA p.S2191_G2193delSIG Deletion - In frame Liver COSM5753981 MBD6 c.958G>A p.A320T Substitution - Missense Large_intestine COSM4672088 CHD7 c.5067G>A p.V1689V Substitution - coding silent Large_intestine COSM5786642 KDM4A c.101T>C p.I34T Substitution - Missense Breast COSM4070362 CHD3 c.2677T>C p.S893P Substitution - Missense Stomach COSM5919383 KMT2C c.590+6C>T p.? Unknown Skin COSM1437311 NIPBL c.7003C>T p.R2335W Substitution - Missense Large_intestine COSM1362008 KMT2D c.8399T>C p.L2800P Substitution - Missense Large_intestine COSM5478086 ATF7IP c.2462G>A p.S821N Substitution - Missense Large_intestine COSM1561252 SFMBT2 c.1306C>T p.R436W Substitution - Missense Large_intestine COSM1112286 MORF4L2 c.631C>A p.L211I Substitution - Missense Endometrium COSM1672468 TDRD6 c.4599C>A p.Y1533* Substitution - Nonsense Large_intestine COSM6005455 KMT2D c.? p.P2084fs*30 Frameshift Breast COSM3611752 HDAC3 c.665C>T p.P222L Substitution - Missense Skin COSM3858490 SIRT5 c.122C>G p.A41G Substitution - Missense Stomach COSM4120733 BRPF1 c.2179C>T p.L727F Substitution - Missense Stomach COSM5492978 BAZ2A c.5333G>A p.G1778D Substitution - Missense Biliary_tract COSM4988918 SETD2 c.851A>C p.K284T Substitution - Missense Soft_tissue COSM5058921 MSH6 c.350G>A p.G117E Substitution - Missense Stomach COSM443834 CHD6 c.6409C>T p.R2137* Substitution - Nonsense Breast COSM348992 SMEK1 c.199-1G>T p.? Unknown Lung COSM2909243 ATAD2B_ENST00000238789 c.1385A>G p.D462G Substitution - Missense Large_intestine COSM3978078 SMNDC1 c.406G>A p.G136S Substitution - Missense Lung COSM4911642 PHF11 c.100T>C p.F34L Substitution - Missense Liver COSM3365021 ZBTB38 c.1972G>T p.E658* Substitution - Nonsense Kidney COSM3457087 HNF1A c.147C>T p.S49S Substitution - coding silent Skin COSM1348577 JMJD1C c.5364delA p.E1789fs*45 Deletion - Frameshift Bone COSM693060 ATF7IP c.2878G>A p.G960S Substitution - Missense Lung COSM433833 MGA c.4621C>T p.R1541C Substitution - Missense Breast COSM5104043 SMARCC2 c.881delG p.G294fs*46 Deletion - Frameshift Large_intestine COSM41705 TET2 c.3593G>A p.W1198* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4767415 ARID1A c.1345C>T p.Q449* Substitution - Nonsense Biliary_tract COSM4410977 SETD2 c.126T>A p.Y42* Substitution - Nonsense Kidney COSM419075 SMYD1 c.341T>G p.V114G Substitution - Missense Upper_aerodigestive_tract COSM233369 SIRT5 c.284C>T p.P95L Substitution - Missense Skin COSM1747800 ASH1L c.6253G>T p.G2085C Substitution - Missense Urinary_tract COSM96415 CREBBP c.5932A>G p.N1978D Substitution - Missense Breast COSM1394640 KDM4B c.1590C>T p.Y530Y Substitution - coding silent Large_intestine COSM4073748 DNMT1 c.3088T>C p.S1030P Substitution - Missense Stomach COSM5817559 EHMT1 c.676C>G p.H226D Substitution - Missense Liver COSM3951753 CHD7 c.4024G>A p.G1342S Substitution - Missense Lung COSM1439941 HDAC2 c.1375delA p.T459fs*>30 Deletion - Frameshift Pancreas COSM3092510 PHF8 c.1497A>T p.E499D Substitution - Missense Upper_aerodigestive_tract COSM222993 NIPBL c.6191C>T p.T2064I Substitution - Missense Skin COSM1255480 KDM1B c.371A>C p.E124A Substitution - Missense Oesophagus COSM21474 HNF1A c.710A>G p.N237S Substitution - Missense Liver COSM5924863 SCMH1 c.124C>T p.R42C Substitution - Missense Skin COSM3656840 TAF1L c.3843G>A p.L1281L Substitution - coding silent Skin COSM1161850 WHSC1 c.581G>T p.S194I Substitution - Missense Kidney COSM4663229 ARID1A c.4399delC p.P1468fs*13 Deletion - Frameshift Large_intestine COSM1215959 MUM1 c.1297G>A p.V433I Substitution - Missense Large_intestine COSM5752543 ATRX c.7072-1G>T p.? Unknown Breast COSM1640467 MYST1 c.295C>T p.R99W Substitution - Missense Liver COSM1377017 GTF3C1 c.5963G>A p.R1988H Substitution - Missense Large_intestine COSM5428870 PHF20 c.314C>A p.A105D Substitution - Missense Oesophagus COSM5011035 SP140_ENST00000392045 c.260A>G p.N87S Substitution - Missense Kidney COSM110818 BAP1 c.1_2190del2190 p.0? Whole gene deletion Pleura COSM4388600 KMT2C c.162-6C>T p.? Unknown Breast COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM306871 KMT2C c.12797_12799AAT>AAAT p.Q4266fs Complex Central_nervous_system COSM4677498 DIDO1 c.5998G>A p.E2000K Substitution - Missense Large_intestine COSM375441 AIRE c.983G>T p.R328L Substitution - Missense Lung COSM4110232 PHF8 c.1323+2T>C p.? Unknown Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4827657 SFMBT1 c.2284C>T p.R762C Substitution - Missense Stomach COSM4626372 GTF3C4 c.468G>T p.K156N Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3547338 EYA2 c.902C>T p.S301F Substitution - Missense Skin COSM4130753 CBX8 c.553G>A p.V185M Substitution - Missense Thyroid COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4951616 ZMYND8 c.1053T>A p.S351S Substitution - coding silent Liver COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3832540 STK31 c.3052G>C p.D1018H Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4910228 GTF3C1 c.3515A>G p.N1172S Substitution - Missense Liver COSM5056073 MBD2 c.958A>T p.T320S Substitution - Missense Stomach COSM3253905 MLL5 c.280A>G p.T94A Substitution - Missense Large_intestine COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM1566439 EP300 c.6964delC p.H2324fs*29 Deletion - Frameshift Stomach COSM4779886 MECOM c.594T>A p.T198T Substitution - coding silent Liver COSM1015786 TET2 c.73T>C p.C25R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM122356 CREBBP c.760G>C p.A254P Substitution - Missense Upper_aerodigestive_tract COSM1267352 TAF1 c.4303C>T p.R1435C Substitution - Missense Oesophagus COSM1663347 PBRM1 c.755T>C p.I252T Substitution - Missense Kidney COSM1583099 DNMT3A c.2150A>G p.N717S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384350 KMT2C c.2386A>G p.M796V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2777517 KIAA2026_ENST00000399933 c.4683A>G p.I1561M Substitution - Missense Large_intestine COSM3445291 PRDM10 c.2852C>T p.P951L Substitution - Missense Skin COSM3674285 BRD8 c.2498G>T p.R833I Substitution - Missense Prostate COSM5801778 CHD1 c.4066delT p.S1356fs*15 Deletion - Frameshift Breast COSM3734519 ARID4A c.3407A>C p.K1136T Substitution - Missense Pancreas COSM2140906 CHD2 c.2785G>A p.A929T Substitution - Missense Large_intestine COSM145999 TDRD1 c.195C>A p.N65K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM42062 TET2 c.4266_4267insAA p.V1423fs*26 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2965370 KDM6A c.2040C>T p.N680N Substitution - coding silent Upper_aerodigestive_tract COSM144568 PHF6 c.823G>A p.G275R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1169634 PBRM1 c.? p.? Unknown Kidney COSM4495171 CREBBP c.4480C>A p.P1494T Substitution - Missense Skin COSM41647 TET2 c.? p.E1234G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3604095 GABRG1 c.586C>T p.P196S Substitution - Missense Skin COSM3479299 TDRD5 c.1445C>T p.S482F Substitution - Missense Skin COSM971418 CHD9 c.2783G>A p.R928H Substitution - Missense Endometrium COSM1095747 ATAD2 c.2976C>A p.F992L Substitution - Missense Endometrium COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM13373 TRIM33 c.2653C>T p.P885S Substitution - Missense Central_nervous_system COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43420 TET2 c.4546C>T p.R1516* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM53277 TET2 c.3205_3205delA p.T1069fs*13 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM73861 BRDT c.514T>G p.F172V Substitution - Missense Ovary COSM110811 TET2 c.5401C>T p.L1801F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM112087 TDG c.286_287insA p.I98fs*6 Insertion - Frameshift Upper_aerodigestive_tract COSM129644 TDRD6 c.2323G>A p.E775K Substitution - Missense Upper_aerodigestive_tract COSM144563 PHF6 c.1024C>T p.R342* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM182369 HDAC9 c.2976G>A p.P992P Substitution - coding silent Large_intestine COSM211883 KDM4B c.343T>G p.F115V Substitution - Missense Breast COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Large_intestine COSM237195 CHD7 c.6924G>A p.S2308S Substitution - coding silent Prostate COSM255013 KDM6A c.349C>T p.Q117* Substitution - Nonsense Urinary_tract COSM255017 KDM6A c.1663C>T p.Q555* Substitution - Nonsense Urinary_tract COSM330710 MECOM c.1518G>T p.M506I Substitution - Missense Lung COSM353436 EHMT2 c.1897G>C p.E633Q Substitution - Missense Lung COSM368793 CHD6 c.2513G>T p.R838L Substitution - Missense Lung COSM383467 PRDM1 c.1326G>T p.L442F Substitution - Missense Lung COSM422802 PBRM1 c.3028C>T p.R1010* Substitution - Nonsense Kidney COSM467512 EED c.903C>T p.T301T Substitution - coding silent Kidney COSM462074 KDM3B c.3691C>T p.Q1231* Substitution - Nonsense Cervix COSM474148 SMARCA4 c.2738C>A p.P913Q Substitution - Missense Kidney COSM975880 NCOR1 c.2797C>T p.R933* Substitution - Nonsense Endometrium COSM981679 AKAP1 c.462T>C p.G154G Substitution - coding silent Endometrium COSM485169 HDAC9 c.1253G>T p.G418V Substitution - Missense Kidney COSM954578 PRMT5 c.298C>T p.R100C Substitution - Missense Endometrium COSM1000722 EZH2 c.1135G>T p.E379* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM757640 TAF1 c.2878G>T p.G960C Substitution - Missense Lung COSM745607 HDAC9 c.1589C>T p.T530I Substitution - Missense Lung COSM749919 ELP3 c.824A>G p.K275R Substitution - Missense Lung COSM703195 MYST1 c.259G>C p.E87Q Substitution - Missense Lung COSM728092 ZBTB38 c.2739C>A p.D913E Substitution - Missense Lung COSM931216 SUV420H1 c.714G>A p.E238E Substitution - coding silent Endometrium COSM1055645 GABRG1 c.603C>A p.S201S Substitution - coding silent Endometrium COSM971441 CHD9 c.8477T>G p.F2826C Substitution - Missense Endometrium COSM1114822 SMARCA1 c.177A>C p.K59N Substitution - Missense Large_intestine COSM1116465 FMR1 c.838G>A p.E280K Substitution - Missense Endometrium COSM1116479 FMR1 c.1831C>T p.R611C Substitution - Missense Large_intestine COSM1266226 SMARCA2 c.1079A>G p.E360G Substitution - Missense Stomach COSM1606149 ARID2 c.5001T>G p.C1667W Substitution - Missense Liver COSM1387279 BAHCC1 c.785G>A p.C262Y Substitution - Missense Large_intestine COSM1381237 RAI1 c.3439C>T p.R1147W Substitution - Missense Large_intestine COSM1411834 CHD6 c.4806C>T p.N1602N Substitution - coding silent Large_intestine COSM1414091 BRWD1 c.3919_3920insA p.S1307fs*9 Insertion - Frameshift Large_intestine COSM1446047 PHIP c.4278A>C p.K1426N Substitution - Missense Large_intestine COSM1351677 KMT2A c.11794C>T p.R3932C Substitution - Missense Large_intestine COSM1475077 KMT2A c.2700_2701insTAAA p.S901fs*1 Insertion - Frameshift Breast COSM1614639 ING5 c.637C>A p.H213N Substitution - Missense Liver COSM1625262 PHF2 c.170A>G p.H57R Substitution - Missense Liver COSM1642956 HDGFL1 c.125T>A p.F42Y Substitution - Missense Stomach COSM1683055 ZMYM1 c.1087A>C p.T363P Substitution - Missense Kidney COSM1710948 L3MBTL4 c.658G>A p.D220N Substitution - Missense Skin COSM1730862 ACTL6B c.712G>C p.E238Q Substitution - Missense Liver COSM1727906 ZMYM2 c.2728G>T p.V910F Substitution - Missense Liver COSM1965092 KAT6B c.1353A>C p.S451S Substitution - coding silent Upper_aerodigestive_tract COSM1994681 AICDA c.186C>T p.L62L Substitution - coding silent Skin COSM2183528 POGZ c.4056C>T p.S1352S Substitution - coding silent Skin COSM2210770 ASH1L c.189T>C p.D63D Substitution - coding silent Large_intestine COSM2270240 INOC1 c.962C>T p.A321V Substitution - Missense Large_intestine COSM2738986 NCOR1 c.5086G>C p.A1696P Substitution - Missense Upper_aerodigestive_tract COSM3171702 NCOA7 c.2266A>G p.K756E Substitution - Missense Large_intestine COSM3214117 BRD3 c.1287G>A p.A429A Substitution - coding silent Stomach COSM3296314 EPC2 c.2205T>C p.N735N Substitution - coding silent Upper_aerodigestive_tract COSM3373405 SMARCA5 c.2467G>C p.A823P Substitution - Missense Thyroid COSM3375479 ERCC6 c.2636A>C p.K879T Substitution - Missense Pancreas COSM3371914 CBX6 c.842C>T p.P281L Substitution - Missense Thyroid COSM3479316 TDRD5 c.2212G>A p.D738N Substitution - Missense Skin COSM3501434 TP53BP1 c.1329C>T p.F443F Substitution - coding silent Skin COSM3427744 PBRM1 c.2497C>T p.R833C Substitution - Missense Large_intestine COSM3511045 CTCF c.84C>T p.R28R Substitution - coding silent Skin COSM3689038 ASH1L c.3890G>A p.R1297H Substitution - Missense Large_intestine COSM3695422 DNMT3A c.1677C>T p.C559C Substitution - coding silent Large_intestine COSM3717557 BPTF c.8262-10G>T p.? Unknown Liver COSM3731605 BMI1 c.574G>C p.D192H Substitution - Missense Stomach COSM3709756 TDRD1 c.1389T>C p.D463D Substitution - coding silent Upper_aerodigestive_tract COSM3735015 SMARCA4 c.2129_2129delC p.K711fs*63 Deletion - Frameshift Ovary COSM3752792 TRIM66 c.1397A>G p.H466R Substitution - Missense Upper_aerodigestive_tract COSM3763832 EHMT1 c.951G>A p.S317S Substitution - coding silent Large_intestine COSM3794755 CCDC101 c.592G>C p.E198Q Substitution - Missense Urinary_tract COSM3814473 CHD8 c.4761G>A p.L1587L Substitution - coding silent Breast COSM3935206 BTAF1 c.1388A>G p.Y463C Substitution - Missense Oesophagus COSM3839029 ATAD2B_ENST00000238789 c.2018A>T p.H673L Substitution - Missense Breast COSM3841477 DIDO1 c.403C>T p.R135* Substitution - Nonsense Breast COSM3825897 GABRG1 c.1122T>G p.N374K Substitution - Missense Breast COSM3906584 SMARCA2 c.3763C>T p.R1255W Substitution - Missense Stomach COSM3915320 MECOM c.1523C>T p.P508L Substitution - Missense Skin COSM3912230 DNMT3L c.877G>A p.E293K Substitution - Missense Skin COSM3906184 EHMT1 c.2309C>T p.T770I Substitution - Missense Stomach COSM3879506 KMT2C c.13749C>T p.S4583S Substitution - coding silent Stomach COSM3977592 PRDM16 c.2161T>A p.Y721N Substitution - Missense Lung COSM4028651 LBR c.1496T>C p.V499A Substitution - Missense Stomach COSM4004109 PHF3 c.827G>C p.C276S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4046344 ZMYM2 c.842A>G p.N281S Substitution - Missense Stomach COSM3988503 GLYR1 c.112G>C p.G38R Substitution - Missense Kidney COSM4060715 CREBBP c.2279C>A p.P760Q Substitution - Missense Stomach COSM4134606 EYA2 c.1160T>G p.V387G Substitution - Missense Thyroid COSM4161998 KMT2C c.2726G>A p.R909K Substitution - Missense Upper_aerodigestive_tract COSM4156642 FMR1 c.357A>C p.K119N Substitution - Missense Upper_aerodigestive_tract COSM4565446 PRDM4 c.2113_2114CC>TT p.P705F Substitution - Missense Skin COSM4590278 KDM2A c.310A>G p.S104G Substitution - Missense Upper_aerodigestive_tract COSM4455658 CARM1 c.853A>G p.M285V Substitution - Missense Skin COSM4717493 PRDM16 c.3325G>T p.G1109C Substitution - Missense Large_intestine COSM4717497 PRDM2 c.1493T>C p.M498T Substitution - Missense Large_intestine COSM4729950 SRCAP c.9384delC p.P3130fs*2 Deletion - Frameshift Large_intestine COSM4649149 TRRAP c.7579G>A p.E2527K Substitution - Missense Large_intestine COSM4633699 BAZ2A_ENST00000379441 c.3982G>T p.A1328S Substitution - Missense Large_intestine COSM4806128 PHC2 c.1798A>T p.K600* Substitution - Nonsense Liver COSM4787968 BRPF1 c.868A>G p.I290V Substitution - Missense Liver COSM4788492 SP100 c.2236G>A p.E746K Substitution - Missense Liver COSM4794805 EP400 c.5632G>A p.G1878R Substitution - Missense Liver COSM4853035 CBX7 c.455C>T p.S152L Substitution - Missense Cervix COSM4814037 BRD3 c.68C>T p.P23L Substitution - Missense Breast COSM4822013 TAF1 c.5461G>A p.G1821S Substitution - Missense Cervix COSM4825537 ASXL3 c.2227C>T p.R743* Substitution - Nonsense Cervix COSM4957872 TRIM33 c.1417T>G p.L473V Substitution - Missense Liver COSM4963480 DAXX c.979C>T p.R327* Substitution - Nonsense Small_intestine COSM5001428 SETD1A c.3529C>A p.P1177T Substitution - Missense Pancreas COSM4974286 ALKBH1 c.942G>A p.P314P Substitution - coding silent Urinary_tract COSM5031124 MSH6 c.2713T>A p.L905M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5049339 RSF1 c.751G>A p.E251K Substitution - Missense Oesophagus COSM5381692 BRDT c.1999T>A p.S667T Substitution - Missense Skin COSM5510561 KDM5A c.5067C>T p.N1689N Substitution - coding silent Biliary_tract COSM5463268 SETD2 c.2387A>G p.Y796C Substitution - Missense Large_intestine COSM5470256 ARID4A c.1997G>A p.R666Q Substitution - Missense Large_intestine COSM5466661 L3MBTL3 c.1537A>G p.N513D Substitution - Missense Large_intestine COSM5452546 PHC3 c.94C>T p.Q32* Substitution - Nonsense Large_intestine COSM5751501 PHF6 c.673_674insT p.R225fs*8 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5655373 ZMYM4 c.3382C>A p.Q1128K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5742921 BRPF1 c.2983C>T p.R995C Substitution - Missense Small_intestine COSM5700965 CREBBP c.4355A>T p.E1452V Substitution - Missense Soft_tissue COSM5710636 ACTB c.59G>A p.G20D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5893279 ASH2L c.1105C>T p.P369S Substitution - Missense Skin COSM5955033 PHRF1 c.3887C>T p.S1296F Substitution - Missense Upper_aerodigestive_tract COSM5959719 DNMT3A c.2266G>T p.E756* Substitution - Nonsense Thyroid COSM5963883 KDM4C c.467A>G p.N156S Substitution - Missense Breast COSM5989726 TET2 c.3876C>A p.S1292R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5977562 HDAC8 c.17_18insGCCGGAGGA p.P7_A8insEEP Insertion - In frame Upper_aerodigestive_tract COSM5993875 SMYD1 c.844A>C p.K282Q Substitution - Missense Prostate COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53050 TET2 c.? p.P1575fs*33 Frameshift Haematopoietic_and_lymphoid_tissue COSM43409 TET2 c.? p.?fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM41998 TET2 c.1955_1955delA p.Q652fs*48 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5006565 KDM5C c.?_?del? p.?fs*? Deletion - Frameshift Kidney COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM308350 SMARCB1 c.? p.? Unknown Central_nervous_system COSM97048 IDH2 c.? p.R140? Unknown Haematopoietic_and_lymphoid_tissue COSM5031027 KDM6A c.? p.W1258* Substitution - Nonsense Central_nervous_system COSM1757132 NIPBL c.3895C>G p.L1299V Substitution - Missense Urinary_tract COSM1169523 DNMT3A c.? p.W893* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM2235502 ARID1A c.3744A>C p.S1248S Substitution - coding silent Large_intestine COSM5940063 PCGF6 c.997-8C>T p.? Unknown Skin COSM1326736 CHD6 c.2445A>G p.L815L Substitution - coding silent Ovary COSM5387554 CHD3 c.540C>T p.I180I Substitution - coding silent Skin COSM4293948 DIDO1 c.4924A>C p.T1642P Substitution - Missense Upper_aerodigestive_tract COSM5548899 ARID2 c.5318C>T p.A1773V Substitution - Missense Prostate COSM5691167 SUV420H1 c.2306G>C p.G769A Substitution - Missense Soft_tissue COSM1246263 BRWD3 c.4487C>T p.S1496L Substitution - Missense Oesophagus COSM577039 NCOA6 c.3188C>T p.P1063L Substitution - Missense Skin COSM4992944 KMT2C c.1470-1G>A p.? Unknown Skin COSM5751020 SRCAP c.3800C>G p.P1267R Substitution - Missense Stomach COSM729155 PHC3 c.176G>A p.S59N Substitution - Missense Endometrium COSM3673636 SP140_ENST00000392045 c.1773A>G p.P591P Substitution - coding silent Prostate COSM1330577 ACTB c.496T>C p.Y166H Substitution - Missense Ovary COSM312890 KMT2C c.13822C>T p.R4608C Substitution - Missense Lung COSM1750541 CXXC1 c.413C>T p.S138L Substitution - Missense Skin COSM4188015 BAP1 c.254A>G p.Q85R Substitution - Missense Kidney COSM3736440 STK31 c.1868G>T p.S623I Substitution - Missense Skin COSM5554011 SETD4 c.526T>C p.F176L Substitution - Missense Prostate COSM1241759 SMARCA4 c.2654G>A p.R885H Substitution - Missense Oesophagus COSM20436 TAF1L c.1994delA p.K665fs*4 Deletion - Frameshift Large_intestine COSM729838 TBL1XR1 c.258C>T p.A86A Substitution - coding silent Breast COSM1671098 PRDM8 c.397G>T p.E133* Substitution - Nonsense Large_intestine COSM1185669 TDRD5 c.2710C>A p.P904T Substitution - Missense Lung COSM5967968 CHD4 c.2761C>A p.P921T Substitution - Missense Genital_tract COSM745875 KMT2C c.6919A>T p.R2307* Substitution - Nonsense Lung COSM3379546 FMR1 c.569G>A p.R190Q Substitution - Missense Pancreas COSM1694770 TET2 c.980C>T p.S327L Substitution - Missense Skin COSM51440 ARID1A c.1441C>T p.Q481* Substitution - Nonsense Ovary COSM277586 TAF1L c.2534G>A p.R845Q Substitution - Missense Biliary_tract COSM934516 PRDM4 c.2334T>C p.S778S Substitution - coding silent Endometrium COSM420766 NSD1 c.5719A>G p.I1907V Substitution - Missense Urinary_tract COSM4978796 PRDM5 c.1544G>A p.R515H Substitution - Missense Oesophagus COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM3568254 BAZ2B c.4684C>T p.L1562F Substitution - Missense Skin COSM1383432 EZH1 c.1875G>T p.W625C Substitution - Missense Large_intestine COSM53135 TET2 c.? p.F1377fs*22 Frameshift Haematopoietic_and_lymphoid_tissue COSM1614882 MSH6 c.876C>G p.S292R Substitution - Missense Liver COSM4387421 BAP1 c.82C>T p.Q28* Substitution - Nonsense Eye COSM5707483 ADNP c.671A>C p.K224T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM1201022 CHD9 c.1115G>A p.G372D Substitution - Missense Pancreas COSM478084 PHF20 c.1107G>T p.Q369H Substitution - Missense Kidney COSM907736 ARID1A c.5197G>T p.E1733* Substitution - Nonsense Large_intestine COSM1316758 PRDM10 c.3466C>T p.P1156S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM919463 JMJD1C c.4920C>T p.V1640V Substitution - coding silent Endometrium COSM3707010 SETD1A c.2234G>A p.R745Q Substitution - Missense Liver COSM1224333 RSF1 c.4019C>T p.P1340L Substitution - Missense Large_intestine COSM1387262 KDM6B c.1259C>A p.P420H Substitution - Missense Large_intestine COSM1109447 KIAA2026_ENST00000399933 c.3841C>A p.L1281I Substitution - Missense Large_intestine COSM294238 CHD1 c.3313G>A p.E1105K Substitution - Missense Large_intestine COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM248028 TRRAP c.10383G>A p.T3461T Substitution - coding silent Prostate COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM727603 RUVBL1 c.532G>T p.E178* Substitution - Nonsense Lung COSM5002083 ZBTB38 c.955T>G p.S319A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3160224 PHF3 c.102T>C p.F34F Substitution - coding silent Large_intestine COSM4169895 ASXL1 c.4048C>T p.Q1350* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM941535 SMARCC2 c.3499G>T p.A1167S Substitution - Missense Endometrium COSM3526975 L3MBTL4 c.1220C>T p.S407L Substitution - Missense Skin COSM4074012 SMARCA4 c.433A>T p.M145L Substitution - Missense Stomach COSM5673236 ARID1B c.3223G>T p.V1075L Substitution - Missense Soft_tissue COSM3296168 MBD5 c.2175C>A p.A725A Substitution - coding silent Upper_aerodigestive_tract COSM5716562 MEN1 c.897C>T p.L299L Substitution - coding silent Skin COSM5668067 AP001011.3_ENST00000320876 c.3308A>T p.H1103L Substitution - Missense Soft_tissue COSM4775071 KMT2D c.2245C>T p.P749S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5523998 TET2 c.1172C>T p.S391F Substitution - Missense Skin COSM2950081 BRPF1 c.2806C>G p.P936A Substitution - Missense Prostate COSM1239175 JARID2 c.1266delG p.R425fs*36 Deletion - Frameshift Prostate COSM1169563 KDM5C c.2269C>T p.P757S Substitution - Missense Kidney COSM5879020 TET2 c.3743T>G p.L1248R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1611162 SMCHD1 c.2413A>G p.I805V Substitution - Missense Liver COSM5967521 MSH6 c.? p.R411M Substitution - Missense Endometrium COSM4080145 PRMT1 c.647T>C p.V216A Substitution - Missense Stomach COSM1349802 BTAF1 c.5230G>A p.G1744R Substitution - Missense Central_nervous_system COSM1487810 TDRD6 c.1892T>G p.I631S Substitution - Missense Breast COSM4060184 SRCAP c.78C>G p.G26G Substitution - coding silent Stomach COSM4444645 L3MBTL4 c.933G>T p.R311S Substitution - Missense Large_intestine COSM1479767 AKAP1 c.961G>C p.E321Q Substitution - Missense Breast COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4573546 BMI1 c.186G>T p.K62N Substitution - Missense Bone COSM1194830 KDM6A c.3717G>T p.W1239C Substitution - Missense Lung COSM1071085 BRD9 c.313G>A p.V105M Substitution - Missense Endometrium COSM1041560 ACTL6A c.1087A>G p.R363G Substitution - Missense Endometrium COSM303941 ASXL1 c.1903_1925del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4480241 BAHD1 c.23C>T p.S8F Substitution - Missense Skin COSM312135 KAT5 c.493C>G p.Q165E Substitution - Missense Soft_tissue COSM1621743 CDYL c.694G>T p.A232S Substitution - Missense Liver COSM1394661 KDM4B c.2889T>C p.P963P Substitution - coding silent Liver COSM5878862 DNMT3A c.928_935delATTGTGTC p.I310fs*11 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5646923 BAZ1B c.4129T>A p.Y1377N Substitution - Missense Oesophagus COSM4698223 LMNA c.886C>T p.R296C Substitution - Missense Large_intestine COSM4633063 SMARCA2 c.668A>C p.Q223P Substitution - Missense Large_intestine COSM4385626 MLL5 c.2518_2519insA p.E841fs*11 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM294395 GABRG1 c.1381G>T p.G461C Substitution - Missense Large_intestine COSM3528090 DNMT1 c.4590C>T p.P1530P Substitution - coding silent Skin COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3919742 NSD1 c.2858C>T p.S953F Substitution - Missense Skin COSM3940051 PHF8 c.947-1G>A p.? Unknown Oesophagus COSM5882264 KMT2D c.13394G>A p.R4465Q Substitution - Missense Large_intestine COSM3986766 EP400 c.2248G>C p.A750P Substitution - Missense Kidney COSM4895419 MYST3 c.618C>T p.I206I Substitution - coding silent Skin COSM1616065 BRWD1 c.6247A>C p.N2083H Substitution - Missense Liver COSM1307788 BRWD1 c.4314C>G p.F1438L Substitution - Missense Urinary_tract COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5483566 RAG2 c.146A>C p.D49A Substitution - Missense Large_intestine COSM401768 ASXL3 c.2747T>G p.V916G Substitution - Missense Lung COSM940100 KMT2D c.34G>T p.D12Y Substitution - Missense Endometrium COSM1333946 VPS72 c.244C>T p.R82C Substitution - Missense Large_intestine COSM5954199 CHD8 c.4462G>A p.V1488M Substitution - Missense Upper_aerodigestive_tract COSM4963476 TP53BP1 c.1015C>G p.L339V Substitution - Missense Pancreas COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5918916 EYA4 c.1122G>A p.W374* Substitution - Nonsense Skin COSM4775397 CREBBP c.1167_1184del18 p.N390_M395delNVLNHM Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM23153 MEN1 c.? p.Q166* Substitution - Nonsense Parathyroid COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5434596 CHD7 c.6598G>A p.G2200R Substitution - Missense Oesophagus COSM4931590 BRWD3 c.765A>G p.A255A Substitution - coding silent Liver COSM3796189 CHD3 c.4155G>C p.K1385N Substitution - Missense Urinary_tract COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4395087 BRD3 c.417G>A p.Q139Q Substitution - coding silent Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3796209 BAHCC1 c.3466G>A p.E1156K Substitution - Missense Urinary_tract COSM3657074 KIAA1045 c.1032C>T p.I344I Substitution - coding silent Skin COSM4032780 ALKBH3 c.240C>T p.I80I Substitution - coding silent Stomach COSM1179092 INO80B c.469G>C p.E157Q Substitution - Missense Prostate COSM5766184 ATRX c.3960_3960delC p.N1321fs*25 Deletion - Frameshift Central_nervous_system COSM3850371 BRD8 c.2037G>C p.Q679H Substitution - Missense Stomach COSM133721 DNMT3A c.958C>T p.R320* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4678880 DNMT1 c.4277G>A p.R1426Q Substitution - Missense Large_intestine COSM5689220 PHF20 c.1773G>C p.P591P Substitution - coding silent Soft_tissue COSM144497 IDH2 c.? p.R172T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM6018707 ZBTB33 c.1230G>T p.M410I Substitution - Missense Skin COSM4384964 PHF12 c.568G>A p.V190M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5049716 TP53BP1 c.4666G>A p.G1556R Substitution - Missense Oesophagus COSM309421 BAHD1 c.1886G>T p.R629L Substitution - Missense Lung COSM3089645 EHMT1 c.1320G>A p.T440T Substitution - coding silent Large_intestine COSM1319426 SMC1A c.287G>A p.R96H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1235785 AKAP1 c.607G>A p.E203K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5451923 TRRAP c.871T>G p.L291V Substitution - Missense Large_intestine COSM987381 AP001011.3_ENST00000320876 c.1034_1037delAGTT p.L346fs*46 Deletion - Frameshift Endometrium COSM5989443 CHD3 c.3132A>T p.K1044N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4070279 KDM6B c.304C>T p.R102W Substitution - Missense Stomach COSM294554 MECOM c.1536delT p.P513fs*15 Deletion - Frameshift Large_intestine COSM979592 EZH1 c.2220C>T p.I740I Substitution - coding silent Liver COSM690028 DPF2 c.954G>T p.K318N Substitution - Missense Lung COSM6004858 PHF21B c.565-10C>T p.? Unknown Prostate COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4672065 CHD6 c.7540A>G p.T2514A Substitution - Missense Large_intestine COSM315437 SMARCC1 c.2021C>T p.S674L Substitution - Missense Soft_tissue COSM5901437 JARID2 c.923G>A p.G308E Substitution - Missense Skin COSM5751176 EZH2 c.937_938insA p.R313fs*34 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5561415 NCOA6 c.3399T>C p.P1133P Substitution - coding silent Prostate COSM4991372 ASXL1 c.2338C>G p.Q780E Substitution - Missense Skin COSM4603619 EZH2 c.? p.N693Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4781616 NCOA1 c.3955G>A p.V1319I Substitution - Missense Pancreas COSM4835138 RTF1 c.894C>G p.N298K Substitution - Missense Cervix COSM256035 DNMT3A c.1648G>A p.G550R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3845023 SMC1A c.2390T>G p.V797G Substitution - Missense Breast COSM255008 KDM6A c.1528-1G>C p.? Unknown Urinary_tract COSM3972171 DNMT3A c.776C>G p.A259G Substitution - Missense Central_nervous_system COSM4694861 KDM1B c.174T>C p.C58C Substitution - coding silent Large_intestine COSM5374009 HCFC2 c.15C>T p.S5S Substitution - coding silent Skin COSM3710769 KMT2D c.8112C>A p.G2704G Substitution - coding silent Upper_aerodigestive_tract COSM4755392 KDM5C c.773G>A p.R258Q Substitution - Missense Stomach COSM724362 ZMYND8 c.2568C>A p.S856S Substitution - coding silent Lung COSM33394 SETBP1 c.3484C>T p.R1162W Substitution - Missense Large_intestine COSM4916907 CTCF c.1620G>A p.M540I Substitution - Missense Liver COSM1685359 SETBP1 c.? p.G870D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5608138 CREBBP c.175C>T p.L59F Substitution - Missense Skin COSM3545264 ASXL1 c.4031C>T p.S1344F Substitution - Missense Skin COSM1117769 HCFC1 c.456G>A p.A152A Substitution - coding silent Skin COSM5552562 SND1 c.2416G>C p.D806H Substitution - Missense Prostate COSM929721 MTA2 c.910G>T p.V304F Substitution - Missense Endometrium COSM4098436 CHD6 c.7542C>T p.T2514T Substitution - coding silent Stomach COSM3396810 KMT2C c.2072C>G p.S691C Substitution - Missense Breast COSM1122949 KDM5C c.2296C>T p.R766W Substitution - Missense Endometrium COSM1488451 HDAC9 c.1846C>T p.P616S Substitution - Missense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4773261 AP001011.3_ENST00000320876 c.5708G>T p.G1903V Substitution - Missense Stomach COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4591901 NCOR1 c.618+6T>A p.? Unknown Upper_aerodigestive_tract COSM3879583 KMT2C c.4585A>T p.S1529C Substitution - Missense Stomach COSM4023188 LMNA c.1748C>T p.S583L Substitution - Missense Stomach COSM2199977 SETD3 c.1413G>A p.E471E Substitution - coding silent Large_intestine COSM1067707 NIPBL c.6302A>C p.Q2101P Substitution - Missense Endometrium COSM1579268 ATAD2 c.3586C>A p.H1196N Substitution - Missense Fallopian_tube COSM4535188 SMARCA2 c.2164G>A p.G722R Substitution - Missense Skin COSM87121 TET2 c.3535_3536insA p.R1179fs*7 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM111744 DHX30 c.3192-16_3195del20 p.? Unknown Ovary COSM3674596 ARID1B c.1553C>T p.P518L Substitution - Missense Prostate COSM4763000 ASH1L c.6306G>T p.K2102N Substitution - Missense Stomach COSM5816420 SND1 c.279G>A p.K93K Substitution - coding silent Liver COSM100051 PRDM1 c.1_2370del2370 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM4951024 BAP1 c.101A>C p.D34A Substitution - Missense Liver COSM4885231 SETD1A c.3476C>A p.P1159H Substitution - Missense Upper_aerodigestive_tract COSM109965 SMARCC1 c.3147C>T p.T1049T Substitution - coding silent Skin COSM5922616 HDAC9 c.1680T>G p.D560E Substitution - Missense Skin COSM5752198 KMT2C c.5422_5423delAG p.P1809fs*18 Deletion - Frameshift Breast COSM1344940 MTF2 c.788C>A p.P263Q Substitution - Missense Large_intestine COSM1239927 PRDM2 c.4910T>C p.F1637S Substitution - Missense Oesophagus COSM3439585 JMJD1C c.2368C>T p.Q790* Substitution - Nonsense Skin COSM4603626 ATRX c.2654_2655insCA p.R885fs*21 Insertion - Frameshift Central_nervous_system COSM133124 DNMT3A c.1906G>A p.V636M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4492349 PHF3 c.3967C>T p.P1323S Substitution - Missense Skin COSM5717499 GTF3C4 c.477A>G p.P159P Substitution - coding silent Skin COSM1685381 TET2 c.1973A>C p.H658P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4019728 NCOA5 c.1332G>C p.V444V Substitution - coding silent Oesophagus COSM1606142 ARID2 c.3844G>C p.D1282H Substitution - Missense Liver COSM456032 KDM4C c.1186G>A p.D396N Substitution - Missense Large_intestine COSM5438416 BAHD1 c.1323C>T p.S441S Substitution - coding silent Oesophagus COSM703230 SETD1A c.2741C>T p.P914L Substitution - Missense Lung COSM3794138 INOC1 c.1627G>A p.D543N Substitution - Missense Urinary_tract COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3035796 SCML2 c.782G>T p.S261I Substitution - Missense Large_intestine COSM1287113 PHF21A c.1171C>T p.R391* Substitution - Nonsense Autonomic_ganglia COSM5352292 EP300 c.? p.R705Q Substitution - Missense Endometrium COSM4758871 CHD2 c.3494A>G p.K1165R Substitution - Missense Stomach COSM3421985 CHD3 c.62C>A p.S21Y Substitution - Missense Large_intestine COSM1495757 SETD7 c.592T>C p.S198P Substitution - Missense Kidney COSM5415902 TET2 c.? p.N275S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM255108 MEN1 c.185_186insT p.F63fs*54 Insertion - Frameshift Parathyroid COSM5058123 EPC2 c.1498A>G p.T500A Substitution - Missense Stomach COSM5720885 HDAC9 c.1162G>A p.G388R Substitution - Missense Skin COSM226557 PRDM9 c.2527A>G p.N843D Substitution - Missense Skin COSM1406681 ATAD2B_ENST00000238789 c.2852G>A p.R951Q Substitution - Missense Large_intestine COSM4689174 GTF3C1 c.6178C>T p.L2060F Substitution - Missense Large_intestine COSM5494875 EZH2 c.1311G>A p.W437* Substitution - Nonsense Biliary_tract COSM21483 HNF1A c.379A>T p.N127Y Substitution - Missense Liver COSM1239038 GTF3C1 c.4378A>G p.K1460E Substitution - Missense Oesophagus COSM37029 EZH2 c.1937A>C p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3659945 SMYD5 c.849G>A p.E283E Substitution - coding silent Liver COSM96462 CREBBP c.5065C>T p.L1689F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1017604 SP140_ENST00000392045 c.1605G>T p.K535N Substitution - Missense Endometrium COSM345422 ZBTB38 c.555G>C p.L185F Substitution - Missense Lung COSM460185 KDM6B c.2412C>G p.L804L Substitution - coding silent Cervix COSM4569266 PHF16 c.1634T>A p.M545K Substitution - Missense Skin COSM3766787 CHD7 c.3807T>G p.F1269L Substitution - Missense Liver COSM1737886 TET2 c.5252_5252delA p.Y1751fs*12 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM50665 PRDM9 c.932C>A p.S311Y Substitution - Missense Large_intestine COSM46430 HNF1A c.56C>A p.S19* Substitution - Nonsense Liver COSM24908 HNF1A c.829_837delTTCCGGCAC p.F277_H279delFRH Deletion - In frame Liver COSM1388722 SETBP1 c.2959C>T p.R987W Substitution - Missense Large_intestine COSM4420548 EP400 c.8196G>A p.Q2732Q Substitution - coding silent Central_nervous_system COSM1472720 ASH1L c.1833G>C p.L611F Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM266035 ARID2 c.925A>G p.N309D Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4159761 NSD1 c.6903G>C p.G2301G Substitution - coding silent Soft_tissue COSM1289009 ZBTB4 c.1010A>C p.Y337S Substitution - Missense Autonomic_ganglia COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1422294 ZCWPW2 c.904G>A p.E302K Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM308640 BRD8 c.532_533insC p.R178fs*20 Insertion - Frameshift Stomach COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3531883 LMNB2 c.1271C>T p.P424L Substitution - Missense Skin COSM4167237 TET2 c.? p.E135fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5737156 BRD9 c.248C>T p.T83M Substitution - Missense Small_intestine COSM1163749 KMT2C c.4051delA p.R1351fs*23 Deletion - Frameshift Pancreas COSM1601715 LBR c.451-2A>G p.? Unknown Liver COSM4714023 PHF8 c.2587G>A p.G863R Substitution - Missense Large_intestine COSM292731 CHD1 c.3960delA p.E1321fs*22 Deletion - Frameshift Stomach COSM4776988 CHD1 c.2677C>G p.Q893E Substitution - Missense Breast COSM144620 KMT2D c.9584_9585insG p.P3196fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3723182 PRDM1 c.1704A>T p.K568N Substitution - Missense Upper_aerodigestive_tract COSM4756291 CHD7 c.8915A>C p.E2972A Substitution - Missense Stomach COSM260287 CREBBP c.5470G>A p.A1824T Substitution - Missense Large_intestine COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM4689605 HCFC2 c.604G>T p.D202Y Substitution - Missense Large_intestine COSM1747736 POGZ c.3215C>A p.A1072D Substitution - Missense Urinary_tract COSM2175496 HNF1A c.1681C>T p.Q561* Substitution - Nonsense Kidney COSM1581521 PRDM16 c.866T>C p.M289T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3951825 PRDM14 c.1365T>G p.H455Q Substitution - Missense Lung COSM1038796 HDAC11 c.66G>A p.P22P Substitution - coding silent Endometrium COSM5985861 KMT2D c.13511G>A p.W4504* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM107706 BAZ2B c.2570G>A p.R857K Substitution - Missense Skin COSM4762620 TDRKH c.1051G>T p.D351Y Substitution - Missense Stomach COSM3793939 SMEK1 c.1545G>C p.K515N Substitution - Missense Urinary_tract COSM133043 EZH2 c.1718C>T p.T573I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4844542 KDM4B c.2994C>T p.I998I Substitution - coding silent Cervix COSM1580738 CREBBP c.4309A>T p.I1437F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5798727 INTS12 c.648G>A p.M216I Substitution - Missense Breast COSM3862672 POGZ c.1070C>T p.S357L Substitution - Missense Skin COSM1411312 NCOA6 c.3740C>T p.S1247F Substitution - Missense Large_intestine COSM3637004 HDAC9 c.908C>T p.A303V Substitution - Missense Skin COSM32330 NCOA6 c.3573C>A p.S1191R Substitution - Missense Breast COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM30499 NCOA4 c.441G>A p.L147L Substitution - coding silent Kidney COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24938 HNF1A c.527-2A>G p.? Unknown Liver COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28795 KDM6A c.975-1G>T p.? Unknown Salivary_gland COSM83884 ARID1A c.3826C>T p.R1276* Substitution - Nonsense Pancreas COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Pancreas COSM77580 DHX30 c.1666G>A p.V556I Substitution - Missense Stomach COSM87102 TET2 c.2443_2444insAT p.R815fs*10 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM146933 ERCC6 c.3689G>C p.R1230P Substitution - Missense Soft_tissue COSM147408 APOBEC1 c.534C>T p.Y178Y Substitution - coding silent Stomach COSM218876 BAG6 c.268C>T p.P90S Substitution - Missense Pancreas COSM200502 TET2 c.829G>A p.A277T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM233456 SMYD4 c.1597C>T p.P533S Substitution - Missense Skin COSM240686 KMT2D c.5357A>G p.D1786G Substitution - Missense Prostate COSM254818 KMT2C c.658C>T p.Q220* Substitution - Nonsense Urinary_tract COSM253036 NIPBL c.7894_7896delGAA p.E2632delE Deletion - In frame Endometrium COSM255131 MEN1 c.628_631delACAG p.T210fs*13 Deletion - Frameshift Thyroid COSM255136 MEN1 c.784_804del21 p.K262_Y268del Deletion - In frame Parathyroid COSM255180 ARID1A c.2165_2171delACCAGAT p.N722fs*18 Deletion - Frameshift Ovary COSM281631 HCFC2 c.2304G>T p.K768N Substitution - Missense Large_intestine COSM315158 SHPRH c.2415delG p.S806fs*4 Deletion - Frameshift Lung COSM303325 SUZ12 c.1794+1G>C p.? Unknown Central_nervous_system COSM344421 JMJD5 c.91G>C p.E31Q Substitution - Missense Lung COSM349791 ASH1L c.1240G>A p.A414T Substitution - Missense Lung COSM381387 PRMT5 c.327_328GG>TT p.Q109>? Complex Lung COSM460411 NCOR1 c.3671-1G>A p.? Unknown Cervix COSM458125 BRWD3 c.1489C>T p.R497W Substitution - Missense Biliary_tract COSM468434 KMT2D c.13458A>T p.K4486N Substitution - Missense Kidney COSM680166 ARID1A c.6572G>T p.S2191I Substitution - Missense Lung COSM1054438 WHSC1 c.2485G>A p.V829I Substitution - Missense Endometrium COSM1049153 BRPF1 c.3414G>A p.E1138E Substitution - coding silent Endometrium COSM1021892 SMEK2 c.723C>A p.F241L Substitution - Missense Endometrium COSM1019239 DNMT3A c.1006T>G p.F336V Substitution - Missense Endometrium COSM700914 PYGO1 c.1133C>A p.A378D Substitution - Missense Lung COSM734376 GABRG1 c.1147C>A p.H383N Substitution - Missense Lung COSM895807 POGZ c.2725C>T p.P909S Substitution - Missense Endometrium COSM1063501 HDAC3 c.643C>T p.R215C Substitution - Missense Endometrium COSM970039 SETD1A c.1104G>A p.A368A Substitution - coding silent Endometrium COSM1132264 HDAC8 c.431C>G p.A144G Substitution - Missense Prostate COSM1242561 NCOA2 c.2867C>T p.P956L Substitution - Missense Stomach COSM1163731 ADNP c.3047delA p.K1016fs*11 Deletion - Frameshift Large_intestine COSM1257406 MBD6 c.1311delA p.H438fs*49 Deletion - Frameshift Oesophagus COSM1226786 SMARCC2 c.3148C>T p.P1050S Substitution - Missense Large_intestine COSM1158050 SETDB2 c.1930G>A p.G644R Substitution - Missense Pancreas COSM1299146 EP400 c.8284G>A p.G2762S Substitution - Missense Urinary_tract COSM1293087 KDM5D c.1513A>G p.I505V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1413010 DIDO1 c.5812C>T p.R1938W Substitution - Missense Large_intestine COSM1474366 TDRD1 c.3203C>G p.S1068C Substitution - Missense Breast COSM1675371 KAT6B c.5966T>C p.L1989P Substitution - Missense Stomach COSM1642605 BRD8 c.116+7T>C p.? Unknown Stomach COSM1716621 ATRX c.819_820insT p.L274fs*8 Insertion - Frameshift Central_nervous_system COSM1717367 SETBP1 c.2572G>A p.E858K Substitution - Missense Skin COSM1731016 ZBTB4 c.2836G>T p.V946F Substitution - Missense Liver COSM1746977 ARID2 c.103A>T p.K35* Substitution - Nonsense Urinary_tract COSM1969442 BTAF1 c.513T>C p.D171D Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM2145467 ERCC6 c.1820delA p.K607fs*4 Deletion - Frameshift Large_intestine COSM2802564 KDM6B c.791_792insACCACC p.P264_L265insPP Insertion - In frame Thyroid COSM2793031 TDRD7 c.1740A>G p.A580A Substitution - coding silent Large_intestine COSM2828730 SETD5_ENST00000402198 c.261A>G p.E87E Substitution - coding silent Pancreas COSM2950074 BRPF1 c.2525G>A p.R842Q Substitution - Missense Large_intestine COSM3124657 ZBTB38 c.1645delA p.T551fs*6 Deletion - Frameshift Biliary_tract COSM3069703 DHX30 c.966C>T p.N322N Substitution - coding silent Large_intestine COSM3075976 BRPF3 c.1932G>A p.E644E Substitution - coding silent Upper_aerodigestive_tract COSM3214106 BRD3 c.2025C>T p.V675V Substitution - coding silent Oesophagus COSM3301682 CLOCK c.1456A>C p.N486H Substitution - Missense Soft_tissue COSM3363438 BRWD1 c.5323C>A p.P1775T Substitution - Missense Kidney COSM3377470 ALKBH1 c.506G>A p.R169H Substitution - Missense Pancreas COSM3414260 HCFC1 c.2398G>T p.A800S Substitution - Missense Oesophagus COSM3396081 BAZ2A c.4687C>T p.R1563W Substitution - Missense Prostate COSM3466327 PHC1 c.1221C>T p.F407F Substitution - coding silent Skin COSM3460345 PRMT8 c.1123G>A p.D375N Substitution - Missense Skin COSM3545570 NCOA6 c.358C>T p.R120W Substitution - Missense Skin COSM3710906 KMT2D c.14841G>C p.W4947C Substitution - Missense Upper_aerodigestive_tract COSM3752792 TRIM66 c.1397A>G p.H466R Substitution - Missense Upper_aerodigestive_tract COSM3765101 BRPF1 c.1798C>T p.R600* Substitution - Nonsense Central_nervous_system COSM3784575 BRD8 c.2978T>A p.L993H Substitution - Missense Pancreas COSM4023074 ASH1L c.2T>C p.M1T Substitution - Missense Stomach COSM4032044 PRMT3 c.1417C>T p.P473S Substitution - Missense Stomach COSM4043890 MBD6 c.2569C>T p.R857W Substitution - Missense Stomach COSM4081547 SUV420H2 c.500G>A p.R167H Substitution - Missense Stomach COSM4109599 PHF16 c.322C>T p.R108* Substitution - Nonsense Stomach COSM4071909 ASXL3 c.2397G>T p.E799D Substitution - Missense Stomach COSM4147811 YY1 c.313C>A p.L105M Substitution - Missense Thyroid COSM4160658 TCF19 c.657A>C p.P219P Substitution - coding silent Thyroid COSM4384149 MLL5 c.1248G>T p.E416D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4394649 AKAP1 c.63C>T p.G21G Substitution - coding silent Skin COSM4599261 MTA1 c.302A>C p.H101P Substitution - Missense Upper_aerodigestive_tract COSM4551583 TDRD10 c.532G>A p.E178K Substitution - Missense Skin COSM4534900 DHX30 c.2133G>A p.M711I Substitution - Missense Skin COSM4543707 SP100 c.342G>A p.E114E Substitution - coding silent Skin COSM4581817 CHD6 c.3627C>T p.P1209P Substitution - coding silent Bone COSM4427543 KMT2A c.198G>A p.A66A Substitution - coding silent Oesophagus COSM4506817 PHF1 c.72C>T p.T24T Substitution - coding silent Skin COSM4457690 HNF1A c.1055C>T p.S352F Substitution - Missense Skin COSM4770177 PBRM1 c.4576+5_4576+6insGAG p.? Unknown Soft_tissue COSM4736769 TRRAP c.2857G>A p.A953T Substitution - Missense Large_intestine COSM4773193 SMEK1 c.142G>T p.G48C Substitution - Missense Stomach COSM4751604 ARID1A c.6526C>T p.Q2176* Substitution - Nonsense Stomach COSM4801637 PHC1 c.2505C>A p.F835L Substitution - Missense Liver COSM4890918 SMYD4 c.900G>C p.L300F Substitution - Missense Oesophagus COSM4936426 EZH1 c.717A>G p.A239A Substitution - coding silent Liver COSM4923137 PHRF1 c.600C>G p.L200L Substitution - coding silent Liver COSM4973406 KDM1B c.1431G>T p.L477L Substitution - coding silent Oesophagus COSM5025087 KDM6A c.1850T>A p.L617Q Substitution - Missense Breast COSM5019699 HNF1A c.864G>C p.G288G Substitution - coding silent Soft_tissue COSM5007579 SMARCA1 c.3109G>T p.E1037* Substitution - Nonsense Large_intestine COSM5064567 RBBP7 c.853G>A p.E285K Substitution - Missense Stomach COSM5211907 BAHCC1 c.3862delG p.S1291fs*42 Deletion - Frameshift Breast COSM5067979 PRDM15 c.1700T>C p.V567A Substitution - Missense Large_intestine COSM5347130 ARID1A c.5169C>A p.C1723* Substitution - Nonsense Endometrium COSM5516688 MTA1 c.48_50delCTC p.S19delS Deletion - In frame Biliary_tract COSM5520548 SMARCA2 c.2469C>A p.F823L Substitution - Missense Biliary_tract COSM5430672 ORC1 c.519_523delTGCGG p.F173fs*4 Deletion - Frameshift Oesophagus COSM5728518 TP53BP1 c.1816G>A p.G606S Substitution - Missense Skin COSM5722748 SETBP1 c.3739G>A p.E1247K Substitution - Missense Skin COSM5721608 PWWP2B c.1669C>T p.R557C Substitution - Missense Skin COSM5578883 LMNA c.1976A>T p.Q659L Substitution - Missense Skin COSM5610664 SMYD2 c.804C>T p.T268T Substitution - coding silent Skin COSM5695430 FMR1 c.1109G>T p.S370I Substitution - Missense Soft_tissue COSM5708603 TBL1XR1 c.424_425insTA p.A142fs*8 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5708774 SETD2 c.514G>C p.G172R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5574193 KMT2D c.4475G>C p.S1492T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5569690 BPTF c.8400G>A p.T2800T Substitution - coding silent Prostate COSM5780616 TDRD7 c.2723C>T p.S908L Substitution - Missense Breast COSM5879017 TET2 c.3707T>A p.I1236N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5949905 KAT2A c.1181-7_1181-6insTC p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5931960 BAZ1B c.3152T>C p.L1051P Substitution - Missense Skin COSM5912147 TET2 c.1375C>T p.P459S Substitution - Missense Skin COSM5930358 SMCHD1 c.1210G>A p.E404K Substitution - Missense Skin COSM5888146 BAZ2A_ENST00000379441 c.341C>T p.S114F Substitution - Missense Upper_aerodigestive_tract COSM6019035 EP400 c.1435+2T>G p.? Unknown Skin COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM4169565 MSH6 c.? p.T757I Substitution - Missense Central_nervous_system COSM4172564 MSH6 c.? p.G289D Substitution - Missense Skin COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM22629 MEN1 c.?_?ins? p.?fs Insertion - Frameshift Lung COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4166529 TET2 c.? p.E1029* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Bone COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM53131 TET2 c.? p.Q1699* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1659347 SETD2 c.1311delA p.K438fs*41 Deletion - Frameshift Kidney COSM3383943 KDM4D c.863A>G p.N288S Substitution - Missense Pancreas COSM5890456 TAF1L c.302G>A p.R101K Substitution - Missense Skin COSM3732819 KMT2A c.9678_9679insA p.Q3227fs*6 Insertion - Frameshift Stomach COSM6002458 CHD3 c.2451G>A p.T817T Substitution - coding silent Prostate COSM166304 TET2 c.2571_2572insAAAC p.T859fs*14 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM328412 BPTF c.4269G>A p.L1423L Substitution - coding silent Pancreas COSM3526239 CXXC1 c.1966C>T p.R656C Substitution - Missense Skin COSM4104436 EP300 c.4388T>G p.L1463R Substitution - Missense Stomach COSM86082 KMT2C c.2418C>G p.S806S Substitution - coding silent Soft_tissue COSM4293948 DIDO1 c.4924A>C p.T1642P Substitution - Missense Upper_aerodigestive_tract COSM4654931 SIRT5 c.704T>C p.V235A Substitution - Missense Large_intestine COSM1978343 RAG2 c.367C>T p.R123C Substitution - Missense Upper_aerodigestive_tract COSM4004252 PHF14 c.678G>A p.A226A Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1583142 DNMT3A c.1945_1963>CG p.V649fs*13 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM4401850 DAXX c.1685C>T p.P562L Substitution - Missense Skin COSM5496794 KDM1A c.2505G>C p.V835V Substitution - coding silent Biliary_tract COSM3454098 EED c.274C>T p.H92Y Substitution - Missense Skin COSM5623700 KDM6A c.995A>G p.N332S Substitution - Missense Oesophagus COSM4383927 TET2 c.3929A>C p.K1310T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52779 PBRM1 c.2335C>T p.Q779* Substitution - Nonsense Kidney COSM5595580 ZBTB4 c.732C>T p.I244I Substitution - coding silent Skin COSM5562858 TRIM33 c.2129C>T p.P710L Substitution - Missense Prostate COSM4158735 TET2 c.1460G>T p.R487M Substitution - Missense Thyroid COSM6011941 BRD8 c.2946G>A p.R982R Substitution - coding silent Skin COSM3508975 SETD1A c.1282C>T p.P428S Substitution - Missense Skin COSM443954 NCOA3 c.3762A>G p.Q1254Q Substitution - coding silent Large_intestine COSM1023484 KDM3A c.224G>T p.R75I Substitution - Missense Endometrium COSM3650672 PRDM14 c.874G>A p.E292K Substitution - Missense Skin COSM4188535 NCOA3 c.1281G>C p.Q427H Substitution - Missense Kidney COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM1704416 RSF1 c.1612G>A p.E538K Substitution - Missense Skin COSM592268 NIPBL c.8270G>A p.R2757H Substitution - Missense Prostate COSM1026308 PHF20 c.340+1G>A p.? Unknown Endometrium COSM5469667 PHRF1 c.543G>T p.E181D Substitution - Missense Large_intestine COSM100050 PRDM1 c.303+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1635198 KMT2C c.2185A>G p.N729D Substitution - Missense Upper_aerodigestive_tract COSM2098079 RNF2 c.355G>C p.E119Q Substitution - Missense Central_nervous_system COSM5005830 BRD1 c.2440T>C p.S814P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3975186 KDM3B c.269T>A p.L90H Substitution - Missense Central_nervous_system COSM4746163 L3MBTL3 c.1022A>G p.N341S Substitution - Missense Central_nervous_system COSM52957 DNMT3A c.? p.E505* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5357317 HDGFL1 c.609C>T p.N203N Substitution - coding silent Large_intestine COSM88776 EP300 c.376A>G p.M126V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1364338 APOBEC1 c.361delT p.W121fs*19 Deletion - Frameshift Large_intestine COSM3463519 BAZ2A_ENST00000379441 c.5007C>G p.A1669A Substitution - coding silent Skin COSM3446221 PRMT3 c.324C>T p.S108S Substitution - coding silent Skin COSM1311577 EYA4 c.248T>C p.L83P Substitution - Missense Urinary_tract COSM450566 SIRT5 c.618G>C p.R206R Substitution - coding silent Breast COSM1685384 TET2 c.?_?del? p.?fs*? Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4478754 SETDB1 c.2262C>T p.T754T Substitution - coding silent Skin COSM5380511 ARID1A c.2375C>T p.S792F Substitution - Missense Skin COSM3668822 EPC2 c.1069T>C p.L357L Substitution - coding silent Liver COSM961496 MGA c.1483C>T p.R495* Substitution - Nonsense Endometrium COSM4936551 POGZ c.260T>G p.V87G Substitution - Missense Liver COSM328162 BRD9 c.723C>T p.S241S Substitution - coding silent Pancreas COSM5751991 DNMT3B c.1222_1223insC p.K408fs*6 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41292 IDH1 c.? p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM39331 PHIP c.4031C>T p.P1344L Substitution - Missense Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96944 ARID1A c.? p.Q546* Substitution - Nonsense Pancreas COSM4453259 BRWD3 c.2722A>C p.K908Q Substitution - Missense Skin COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM4069932 JMJD6 c.1115A>G p.H372R Substitution - Missense Stomach COSM161472 HDAC11 c.955C>T p.L319L Substitution - coding silent Breast COSM1124904 TAF1 c.3542G>A p.R1181H Substitution - Missense Endometrium COSM758297 BRWD3 c.693C>G p.N231K Substitution - Missense Lung COSM5454436 GTF3C1 c.3094C>T p.Q1032* Substitution - Nonsense Large_intestine COSM939974 KMT2D c.14871C>A p.C4957* Substitution - Nonsense Large_intestine COSM5392266 NCOA3 c.3512G>A p.R1171K Substitution - Missense Skin COSM3749702 ACTR5 c.18C>T p.F6F Substitution - coding silent Breast COSM431203 KMT2D c.10026G>A p.Q3342Q Substitution - coding silent Soft_tissue COSM1021894 SMEK2 c.590T>G p.I197S Substitution - Missense Endometrium COSM704910 NCOR1 c.4916A>G p.E1639G Substitution - Missense Lung COSM4661143 ALKBH3 c.17G>A p.R6Q Substitution - Missense Large_intestine COSM1560994 RNF134 c.83_84insGCCTCC p.P28_V29insPP Insertion - In frame Large_intestine COSM4772223 ARID1A c.6346A>T p.R2116* Substitution - Nonsense Stomach COSM1225797 SIRT4 c.311G>A p.R104Q Substitution - Missense Large_intestine COSM431203 KMT2D c.10026G>A p.Q3342Q Substitution - coding silent Large_intestine COSM414503 ARID1A c.5777G>C p.G1926A Substitution - Missense Urinary_tract COSM1038079 MBD4 c.1074C>T p.I358I Substitution - coding silent Endometrium COSM1190469 TCF20 c.877C>T p.Q293* Substitution - Nonsense Lung COSM4042118 HDAC7 c.2626C>T p.P876S Substitution - Missense Stomach COSM5017988 KMT2D c.15496G>A p.A5166T Substitution - Missense Soft_tissue COSM1425062 ATXN7 c.2662C>T p.P888S Substitution - Missense Large_intestine COSM703262 SRCAP c.1139A>C p.K380T Substitution - Missense Lung COSM1753989 BRD8 c.671C>T p.S224F Substitution - Missense Upper_aerodigestive_tract COSM4773837 PRDM10 c.333C>T p.I111I Substitution - coding silent Stomach COSM5951575 PBRM1 c.3392_3393insA p.E1132fs*11 Insertion - Frameshift Oesophagus COSM3132336 WHSC1 c.2957G>A p.R986H Substitution - Missense Pancreas COSM3523235 CBX8 c.1100C>T p.T367I Substitution - Missense Skin COSM3879515 KMT2C c.13059A>C p.R4353S Substitution - Missense Stomach COSM4591406 DIDO1 c.4867G>A p.E1623K Substitution - Missense Upper_aerodigestive_tract COSM52855 PBRM1 c.483delT p.D161fs*13 Deletion - Frameshift Kidney COSM3939035 DNMT3A c.1671C>A p.C557* Substitution - Nonsense Oesophagus COSM345735 NSD1 c.6259-1G>C p.? Unknown Lung COSM1737976 BAP1 c.? p.H141R Substitution - Missense Eye COSM5518800 TIF1 c.2435A>G p.K812R Substitution - Missense Biliary_tract COSM1045481 SETD2 c.2668T>G p.L890V Substitution - Missense Endometrium COSM4011551 SMNDC1 c.170C>T p.T57M Substitution - Missense Stomach COSM3415348 BTAF1 c.3196T>G p.F1066V Substitution - Missense Large_intestine COSM1177529 PCGF1 c.390G>T p.E130D Substitution - Missense Endometrium COSM1108237 TAF1L c.2377C>T p.R793W Substitution - Missense Endometrium COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM908665 ZMYM4 c.66T>C p.F22F Substitution - coding silent Endometrium COSM5006579 SETD2 c.? p.S63T Substitution - Missense Kidney COSM5989730 EZH2 c.1748G>A p.R583Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5407041 KMT2C c.10408C>T p.Q3470* Substitution - Nonsense Skin COSM96348 ASXL1 c.2423_2424insC p.A809fs*13 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4852955 CHD6 c.7217G>C p.R2406T Substitution - Missense Cervix COSM4961307 SMARCC1 c.3044-1G>A p.? Unknown Liver COSM5393251 SMARCB1 c.913G>A p.G305R Substitution - Missense Skin COSM1719342 L3MBTL4 c.1558C>T p.L520F Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4695478 KIAA1045 c.121C>T p.P41S Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM969263 GTF3C1 c.1388A>G p.E463G Substitution - Missense Endometrium COSM2889550 DNMT3B c.1193G>A p.R398H Substitution - Missense Stomach COSM4169860 TET2 c.2230C>T p.Q744* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1087590 KMT2C c.6062G>T p.R2021M Substitution - Missense Endometrium COSM3954822 KMT2D c.15025G>T p.D5009Y Substitution - Missense Lung COSM1114811 SMARCA1 c.829G>T p.E277* Substitution - Nonsense Endometrium COSM266929 MGA c.7273T>C p.S2425P Substitution - Missense Large_intestine COSM96030 KMT2A c.1281G>T p.R427R Substitution - coding silent Lung COSM4821857 PRDM15 c.3550G>C p.E1184Q Substitution - Missense Cervix COSM1684835 SETBP1 c.? p.S869R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5806079 ZGPAT c.1510C>T p.Q504* Substitution - Nonsense Liver COSM94142 DNMT3A c.652G>C p.A218P Substitution - Missense Lung COSM207998 MECOM c.1839delA p.G614fs*30 Deletion - Frameshift Large_intestine COSM5669896 SIRT3 c.172G>T p.G58C Substitution - Missense Soft_tissue COSM23044 MEN1 c.? p.S543* Substitution - Nonsense Parathyroid COSM3900258 MYST3 c.13G>A p.A5T Substitution - Missense Stomach COSM166160 PRDM15 c.1824_1825insT p.T609fs*36 Insertion - Frameshift Breast COSM111978 RERE c.3573_3574insAAGGAG p.E1191_R1192insKE Insertion - In frame Ovary COSM3819901 MYST2 c.134C>T p.S45F Substitution - Missense Breast COSM3874631 CDYL c.1532C>T p.A511V Substitution - Missense Stomach COSM3656492 SMARCA2 c.1130C>T p.T377I Substitution - Missense Skin COSM3692569 DOT1L c.1778G>A p.R593H Substitution - Missense Large_intestine COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM737604 NSD1 c.2981C>T p.S994F Substitution - Missense Lung COSM4134435 ASXL1 c.3759T>C p.S1253S Substitution - coding silent Soft_tissue COSM1737319 KMT2A c.514C>T p.P172S Substitution - Missense Central_nervous_system COSM1341426 ARID1A c.5542delG p.D1850fs*33 Deletion - Frameshift Large_intestine COSM4956444 MLL5 c.696G>A p.G232G Substitution - coding silent Liver COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5042715 POGZ c.3962G>A p.R1321H Substitution - Missense Liver COSM5352167 BAHCC1 c.4349delG p.P1452fs*97 Deletion - Frameshift Kidney COSM352123 SP140_ENST00000392045 c.357C>A p.N119K Substitution - Missense Lung COSM4152815 KDM5A c.2897+3G>A p.? Unknown Kidney COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM896622 TDRD10 c.886C>T p.R296C Substitution - Missense Endometrium COSM41651 TET2 c.3665A>G p.E1222G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM125334 PHF16 c.1775C>T p.S592L Substitution - Missense Upper_aerodigestive_tract COSM5514427 ATF7IP c.2808_2809insA p.N937fs*10 Insertion - Frameshift Biliary_tract COSM277636 TDRD6 c.2443C>T p.P815S Substitution - Missense Large_intestine COSM1373025 TP53BP1 c.1988A>G p.E663G Substitution - Missense Large_intestine COSM28336 JARID2 c.1617G>A p.S539S Substitution - coding silent Lung COSM4118112 DHX30 c.2110+1G>A p.? Unknown Stomach COSM254541 ARID1A c.3634C>T p.Q1212* Substitution - Nonsense Urinary_tract COSM4453904 ASXL3 c.2790A>G p.E930E Substitution - coding silent Skin COSM2188320 TP53BP1 c.2130A>C p.K710N Substitution - Missense Large_intestine COSM1388386 AP001011.3_ENST00000320876 c.4629C>T p.G1543G Substitution - coding silent Oesophagus COSM220404 KMT2A c.1223A>T p.Q408L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM205721 SHPRH c.3181C>T p.R1061C Substitution - Missense Large_intestine COSM720291 SP140_ENST00000392045 c.1878G>A p.T626T Substitution - coding silent Lung COSM1658789 EP300 c.3742_3743delAC p.T1248fs*15 Deletion - Frameshift Salivary_gland COSM5752710 CTCF c.852C>G p.H284Q Substitution - Missense Breast COSM1465246 ZBTB33 c.563_564insTGA p.D194_V195insD Insertion - In frame Central_nervous_system COSM1732389 KDM2B c.745C>T p.R249W Substitution - Missense Soft_tissue COSM5893658 EP400 c.7222C>T p.R2408C Substitution - Missense Skin COSM4018308 KMT2A c.4446T>C p.C1482C Substitution - coding silent Stomach COSM4425956 MYST1 c.390C>T p.L130L Substitution - coding silent Oesophagus COSM1750538 MBD1 c.1124G>A p.R375H Substitution - Missense Urinary_tract COSM253734 HDAC4 c.591C>T p.S197S Substitution - coding silent Urinary_tract COSM929313 PHRF1 c.1578C>T p.R526R Substitution - coding silent Endometrium COSM4469448 IDH1 c.15C>T p.I5I Substitution - coding silent Skin COSM5911077 SETD4 c.308C>T p.P103L Substitution - Missense Skin COSM3702335 ZBTB38 c.61T>G p.S21A Substitution - Missense Liver COSM488578 TAF1 c.3146G>A p.R1049H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4776415 PRDM15 c.258_259insC p.R88fs*46 Insertion - Frameshift Thyroid COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM198796 PHF2 c.1468delA p.K492fs*6 Deletion - Frameshift Large_intestine COSM4042413 KMT2D c.1479C>T p.P493P Substitution - coding silent Stomach COSM3814504 PRMT5 c.944T>C p.L315P Substitution - Missense Breast COSM97044 ASXL1 c.2395G>T p.D799Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4777513 KDM6A c.2744T>C p.L915S Substitution - Missense Breast COSM289942 KMT2C c.2447_2448insA p.Y816fs*1 Insertion - Frameshift Skin COSM988396 SETBP1 c.4012C>T p.P1338S Substitution - Missense Skin COSM5358736 CHD7 c.6195C>T p.R2065R Substitution - coding silent Large_intestine COSM5636904 DNMT3A c.2730G>A p.A910A Substitution - coding silent Soft_tissue COSM4531017 ZCWPW2 c.174G>A p.W58* Substitution - Nonsense Skin COSM3733336 KMT2C c.2263C>T p.Q755* Substitution - Nonsense Upper_aerodigestive_tract COSM4389206 PHC1 c.2015T>C p.V672A Substitution - Missense Pancreas COSM1509530 MEN1 c.479C>A p.A160D Substitution - Missense Parathyroid COSM4664615 ATRX c.6288G>T p.K2096N Substitution - Missense Large_intestine COSM4951787 HDAC5 c.240C>G p.L80L Substitution - coding silent Liver COSM1114769 SMARCA1 c.2875G>T p.G959* Substitution - Nonsense Endometrium COSM4640654 NSD1 c.2133C>T p.H711H Substitution - coding silent Large_intestine COSM5708590 TBL1XR1 c.847A>C p.S283R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5640077 PHF17 c.2464A>G p.I822V Substitution - Missense Oesophagus COSM43446 TET2 c.2428C>T p.Q810* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1416505 L3MBTL2 c.2017C>T p.R673C Substitution - Missense Large_intestine COSM1658758 TET2 c.3356T>G p.L1119* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM679188 ACTA1 c.306G>T p.E102D Substitution - Missense Lung COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM5722574 NCOR1 c.3450C>T p.T1150T Substitution - coding silent Skin COSM4981602 SIRT1 c.1379C>T p.P460L Substitution - Missense Oesophagus COSM3875080 PHF3 c.1534G>A p.A512T Substitution - Missense Stomach COSM3636491 KMT2C c.7346C>T p.P2449L Substitution - Missense Skin COSM1474152 PHF13 c.59A>C p.K20T Substitution - Missense Breast COSM4483094 KDM3A c.2672C>G p.S891C Substitution - Missense Skin COSM3402356 CHD9 c.4090A>G p.I1364V Substitution - Missense Central_nervous_system COSM86968 IKZF1 c.? p.L117fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM4383897 TET2 c.3309delT p.F1104fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2773705 KIAA1045 c.626G>A p.R209Q Substitution - Missense Kidney COSM1027543 NCOA3 c.3512G>T p.R1171I Substitution - Missense Endometrium COSM3980566 KAT5 c.1487A>G p.N496S Substitution - Missense Ovary COSM1073492 EYA4 c.1626C>A p.C542* Substitution - Nonsense Endometrium COSM4610240 NCOA7 c.658A>T p.K220* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Soft_tissue COSM255454 EHMT1 c.3402C>T p.A1134A Substitution - coding silent Central_nervous_system COSM3777710 TDRD6 c.1501G>C p.E501Q Substitution - Missense Urinary_tract COSM5772710 KDM4C c.2058A>G p.I686M Substitution - Missense Breast COSM2812122 SETBP1 c.3565C>T p.R1189W Substitution - Missense Stomach COSM4118114 DHX30 c.2389C>T p.R797* Substitution - Nonsense Stomach COSM5652361 KMT2D c.3807delT p.D1269fs*20 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5993902 BAZ2B c.909A>G p.L303L Substitution - coding silent Prostate COSM2920044 CREBBP c.1445A>G p.Q482R Substitution - Missense Large_intestine COSM1035239 BRD1 c.1939G>A p.V647M Substitution - Missense Stomach COSM52995 EZH2 c.863G>A p.R288Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1724419 ZBTB38 c.507C>T p.S169S Substitution - coding silent Skin COSM4951914 ZMYM4 c.659C>A p.T220K Substitution - Missense Liver COSM2932739 ZGPAT c.959G>A p.G320E Substitution - Missense Large_intestine COSM3844858 HDAC6 c.2291A>C p.H764P Substitution - Missense Breast COSM456578 MSL3 c.1012C>T p.R338C Substitution - Missense Large_intestine COSM166345 DNMT3A c.? p.? Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM416973 FTO c.1293G>A p.R431R Substitution - coding silent Urinary_tract COSM133038 EZH2 c.2035G>A p.V679M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1600764 SETDB1 c.297C>T p.F99F Substitution - coding silent Liver COSM3676281 KDM2A c.2130G>C p.E710D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4791817 SND1 c.1847C>T p.A616V Substitution - Missense Liver COSM1686251 NCOR1 c.467C>T p.P156L Substitution - Missense Skin COSM695864 ZMYM5 c.671G>A p.R224H Substitution - Missense Lung COSM128033 FTO c.273C>T p.L91L Substitution - coding silent Upper_aerodigestive_tract COSM5086712 KMT2D c.4024C>T p.R1342* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4991197 DNMT1 c.4481C>T p.T1494I Substitution - Missense Skin COSM5358086 KMT2C c.3084T>A p.C1028* Substitution - Nonsense Large_intestine COSM1691147 MBD5 c.3092G>A p.R1031K Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1495276 TCF20 c.5480C>A p.S1827Y Substitution - Missense Kidney COSM1641333 PHF20 c.3006G>T p.K1002N Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM53311 IDH2 c.? p.R140W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4612055 GLYR1 c.931delG p.A311fs*64 Deletion - Frameshift Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4563053 KMT2C c.9555G>A p.Q3185Q Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1447277 PHF14 c.1692A>T p.K564N Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4775481 MSH6 c.627+9C>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1162015 PBRM1 c.1167_1168insT p.Y390fs*2 Insertion - Frameshift Kidney COSM4817865 KDM4B c.1255G>A p.E419K Substitution - Missense Skin COSM1169691 TET2 c.? p.S1190fs*3 Frameshift Haematopoietic_and_lymphoid_tissue COSM87007 DNMT3A c.2711C>T p.P904L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3414543 LMNB1 c.1107C>T p.A369A Substitution - coding silent Oesophagus COSM2961646 MYST3 c.5877G>A p.G1959G Substitution - coding silent Upper_aerodigestive_tract COSM3720949 BAZ1A c.282C>T p.S94S Substitution - coding silent Upper_aerodigestive_tract COSM3488161 HDAC1 c.1103A>G p.E368G Substitution - Missense Skin COSM3526242 CXXC1 c.571A>T p.K191* Substitution - Nonsense Skin COSM1479275 NCOR1 c.1573_1574insA p.T525fs*11 Insertion - Frameshift Breast COSM3426741 KDM3A c.3563T>G p.F1188C Substitution - Missense Large_intestine COSM265916 SETBP1 c.1966G>C p.G656R Substitution - Missense Large_intestine COSM4795638 NCOA7 c.2352G>A p.E784E Substitution - coding silent Liver COSM5181014 GATAD2A c.917C>T p.A306V Substitution - Missense Large_intestine COSM74523 EPC2 c.1795G>T p.A599S Substitution - Missense Ovary COSM5059999 BRPF1 c.2924T>C p.L975S Substitution - Missense Stomach COSM2929526 TFPT c.344A>G p.Q115R Substitution - Missense Large_intestine COSM4959998 PRDM16 c.134C>T p.P45L Substitution - Missense Liver COSM3462757 CBX5 c.21G>A p.R7R Substitution - coding silent Skin COSM4485372 NCOA6 c.2926C>T p.Q976* Substitution - Nonsense Skin COSM4387359 SHPRH c.1283A>G p.N428S Substitution - Missense Lung COSM3946383 GABRG1 c.811G>T p.G271* Substitution - Nonsense Lung COSM4950821 ATAD2 c.3987T>A p.D1329E Substitution - Missense Liver COSM4834225 TET2 c.3144C>G p.L1048L Substitution - coding silent Cervix COSM1117701 HCFC1 c.5622C>T p.I1874I Substitution - coding silent Endometrium COSM2848363 GABRG1 c.1340delT p.F447fs*>19 Deletion - Frameshift Large_intestine COSM1730166 HDAC7 c.937G>T p.D313Y Substitution - Missense Liver COSM4593941 L3MBTL2 c.697G>C p.A233P Substitution - Missense Upper_aerodigestive_tract COSM5421727 JMJD1C c.6596G>A p.R2199H Substitution - Missense Prostate COSM3691457 PHF12 c.2253G>A p.K751K Substitution - coding silent Large_intestine COSM27254 SIRT3 c.1179G>A p.K393K Substitution - coding silent Urinary_tract COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Bone COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM27949 SMARCB1 c.564_565ins14 p.I189fs*25 Insertion - Frameshift Central_nervous_system COSM80561 SP100 c.1290G>A p.K430K Substitution - coding silent Ovary COSM116351 SMYD4 c.2390C>A p.P797H Substitution - Missense Ovary COSM100083 KMT2C c.10313G>A p.G3438D Substitution - Missense Large_intestine COSM87130 TET2 c.3781C>T p.R1261C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM108646 BMI1 c.944C>T p.S315L Substitution - Missense Skin COSM112087 TDG c.286_287insA p.I98fs*6 Insertion - Frameshift Skin COSM126338 SMYD2 c.430G>A p.E144K Substitution - Missense Upper_aerodigestive_tract COSM145928 SHPRH c.2128A>G p.M710V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM141026 SP100 c.793C>T p.P265S Substitution - Missense Upper_aerodigestive_tract COSM144221 ATRX c.6331C>T p.R2111* Substitution - Nonsense Central_nervous_system COSM254544 ARID1A c.5221C>T p.Q1741* Substitution - Nonsense Urinary_tract COSM41850 TET2 c.1630C>T p.R544* Substitution - Nonsense Large_intestine COSM300766 EZH1 c.985G>A p.E329K Substitution - Missense Large_intestine COSM302656 KMT2C c.1138C>T p.R380C Substitution - Missense Liver COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Large_intestine COSM389615 BAZ1B c.253G>T p.E85* Substitution - Nonsense Lung COSM419519 TCF20 c.1679C>T p.P560L Substitution - Missense Urinary_tract COSM437709 CBX8 c.944G>A p.S315N Substitution - Missense Breast COSM463107 ASH1L c.5991C>T p.D1997D Substitution - coding silent Kidney COSM488204 RBBP7 c.810G>A p.A270A Substitution - coding silent Stomach COSM1018629 HDAC4 c.1065G>A p.T355T Substitution - coding silent Endometrium COSM749490 ATAD2 c.3031A>T p.K1011* Substitution - Nonsense Lung COSM748355 TRRAP c.1195G>A p.V399I Substitution - Missense Lung COSM756948 KDM5C c.1156G>C p.E386Q Substitution - Missense Endometrium COSM720932 ATAD2B_ENST00000238789 c.976A>T p.R326W Substitution - Missense Breast COSM930222 MEN1 c.328G>T p.G110W Substitution - Missense Endometrium COSM931022 KDM2A c.3401G>A p.R1134Q Substitution - Missense Kidney COSM947870 SETDB2 c.695G>A p.R232Q Substitution - Missense Endometrium COSM947880 PHF11 c.144C>A p.C48* Substitution - Nonsense Endometrium COSM895843 POGZ c.1198G>T p.E400* Substitution - Nonsense Endometrium COSM1041694 FXR1 c.817A>C p.K273Q Substitution - Missense Endometrium COSM1041424 TBL1XR1 c.174G>T p.Q58H Substitution - Missense Endometrium COSM1071552 CHD1 c.1490G>A p.C497Y Substitution - Missense Endometrium COSM1075359 ARID1B c.5298C>T p.F1766F Substitution - coding silent Endometrium COSM1115437 PHF6 c.786_787insT p.D264fs*1 Insertion - Frameshift Endometrium COSM1124886 TAF1 c.2271G>T p.M757I Substitution - Missense Endometrium COSM1116460 FMR1 c.692G>A p.G231D Substitution - Missense Endometrium COSM1236667 ARID1A c.648C>A p.Y216* Substitution - Nonsense Autonomic_ganglia COSM1203596 DIDO1 c.110G>A p.R37Q Substitution - Missense Large_intestine COSM1163731 ADNP c.3047delA p.K1016fs*11 Deletion - Frameshift Stomach COSM1162748 BRD9 c.928A>T p.M310L Substitution - Missense Upper_aerodigestive_tract COSM1178183 ZMYND8 c.1938C>A p.D646E Substitution - Missense Prostate COSM1606138 ARID2 c.2865delA p.A956fs*7 Deletion - Frameshift Liver COSM1606141 ARID2 c.3817C>T p.R1273* Substitution - Nonsense Liver COSM1315674 TAF1 c.3852A>G p.Q1284Q Substitution - coding silent Urinary_tract COSM1308268 BRD1 c.1770C>T p.P590P Substitution - coding silent Skin COSM1436279 NSD1 c.5532G>C p.R1844S Substitution - Missense Large_intestine COSM1348579 JMJD1C c.5357A>G p.E1786G Substitution - Missense Large_intestine COSM1361975 KMT2D c.12448C>T p.R4150W Substitution - Missense Upper_aerodigestive_tract COSM1486741 NIPBL c.5272C>T p.R1758* Substitution - Nonsense Breast COSM1637357 GABRG1 c.71T>C p.V24A Substitution - Missense Bone COSM1643601 MYST3 c.5378A>G p.Q1793R Substitution - Missense Stomach COSM1681677 CHD6 c.8112G>T p.E2704D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1679709 SUZ12 c.1702A>G p.S568G Substitution - Missense Large_intestine COSM1703819 RAG2 c.1120G>A p.D374N Substitution - Missense Skin COSM1737512 BRD9 c.877G>A p.A293T Substitution - Missense Central_nervous_system COSM1730383 PYGO2 c.145A>C p.N49H Substitution - Missense Liver COSM1748469 DMAP1 c.638T>G p.L213R Substitution - Missense Urinary_tract COSM2023488 PWWP2B c.1276G>A p.D426N Substitution - Missense Large_intestine COSM2051925 SMYD3 c.908delT p.F303fs*12 Deletion - Frameshift Stomach COSM2150848 GLYATL1 c.994C>T p.P332S Substitution - Missense Skin COSM2134092 ZMYND11 c.296C>A p.P99H Substitution - Missense Upper_aerodigestive_tract COSM2218380 PYGO1 c.552C>T p.F184F Substitution - coding silent Skin COSM2808603 SMCHD1 c.1757C>T p.A586V Substitution - Missense Large_intestine COSM2834867 CHD9 c.2881C>T p.R961C Substitution - Missense Large_intestine COSM2855536 PHF10 c.273G>A p.E91E Substitution - coding silent Large_intestine COSM2920000 CREBBP c.3250_3250+1insA p.I1084fs*3 Unknown Large_intestine COSM3160260 PHF3 c.1685A>G p.N562S Substitution - Missense Liver COSM3214184 WDR5 c.830G>A p.G277D Substitution - Missense Large_intestine COSM3300242 BAZ2B c.4530C>T p.S1510S Substitution - coding silent Large_intestine COSM3296126 MBD5 c.1276G>A p.V426I Substitution - Missense Upper_aerodigestive_tract COSM3371681 CHD6 c.1533T>C p.P511P Substitution - coding silent Thyroid COSM3401176 MTA1 c.1936C>T p.R646W Substitution - Missense Central_nervous_system COSM3427312 PHC3 c.1576G>T p.E526* Substitution - Nonsense Large_intestine COSM3422219 MBD1 c.778C>T p.R260* Substitution - Nonsense Skin COSM3455347 HCFC2 c.854C>T p.S285L Substitution - Missense Skin COSM3464425 ING4 c.550G>A p.D184N Substitution - Missense Skin COSM3615960 NIPBL c.6717C>A p.T2239T Substitution - coding silent Skin COSM3642788 TRRAP c.5646C>T p.I1882I Substitution - coding silent Skin COSM3615194 PRDM9 c.509-1G>A p.? Unknown Skin COSM3596040 BAP1 c.186C>T p.V62V Substitution - coding silent Skin COSM3525428 ASXL3 c.871C>T p.P291S Substitution - Missense Skin COSM3661730 NSD1 c.4680T>G p.A1560A Substitution - coding silent Liver COSM3666557 HNF1A c.811_812insCGG p.R271>PG Complex - insertion inframe Liver COSM3756109 AP001011.3_ENST00000320876 c.2637A>T p.K879N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3756111 SMCHD1 c.981A>T p.K327N Substitution - Missense Thyroid COSM3816139 TP53BP1 c.1942A>G p.M648V Substitution - Missense Breast COSM3818895 NCOR1 c.473C>T p.S158F Substitution - Missense Breast COSM3789378 RBBP5 c.553C>G p.L185V Substitution - Missense Urinary_tract COSM3866159 RERE c.1930C>T p.L644F Substitution - Missense Skin COSM3935975 KMT2D c.8248A>T p.K2750* Substitution - Nonsense Oesophagus COSM3848331 TAF1L c.3565A>T p.T1189S Substitution - Missense Breast COSM3915310 MECOM c.2420G>A p.R807K Substitution - Missense Skin COSM3947307 NSD1 c.6476G>C p.C2159S Substitution - Missense Lung COSM4099073 ZMYND8 c.1800C>G p.V600V Substitution - coding silent Stomach COSM4119058 BAP1 c.1810G>A p.V604M Substitution - Missense Stomach COSM4072225 SETBP1 c.375T>C p.C125C Substitution - coding silent Stomach COSM4072233 SETBP1 c.1827C>T p.P609P Substitution - coding silent Stomach COSM4064345 RAI1 c.2290G>T p.E764* Substitution - Nonsense Stomach COSM4134439 DNMT3B c.1321A>G p.K441E Substitution - Missense Skin COSM4162010 KMT2C c.2573G>T p.W858L Substitution - Missense Thyroid COSM4159228 PRDM8 c.511G>C p.V171L Substitution - Missense Thyroid COSM4163147 TDRD7 c.2992G>T p.E998* Substitution - Nonsense Thyroid COSM4168256 PHF6 c.129T>A p.H43Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4188054 BRD4 c.212T>C p.L71P Substitution - Missense Kidney COSM4385705 ASXL1 c.3187_3188insA p.S1064fs*23 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4384360 KMT2C c.912G>A p.Q304Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4400543 EP400 c.7979C>T p.S2660F Substitution - Missense Skin COSM4391895 RAG2 c.492T>C p.S164S Substitution - coding silent Prostate COSM4416407 PRDM8 c.328G>A p.G110R Substitution - Missense Oesophagus COSM4543474 PRDM2 c.3382G>A p.E1128K Substitution - Missense Skin COSM4495413 DNMT1 c.4489C>T p.P1497S Substitution - Missense Skin COSM4475618 PRDM2 c.2002C>T p.P668S Substitution - Missense Skin COSM4450083 KDM3B c.4398delC p.F1466fs*32 Deletion - Frameshift Skin COSM4410707 PBRM1 c.435delT p.R146fs*28 Deletion - Frameshift Kidney COSM4657764 TBL1XR1 c.1089C>G p.L363L Substitution - coding silent Parathyroid COSM4678889 DNMT3A c.2225G>T p.R742L Substitution - Missense Large_intestine COSM4694967 KDM4B c.1632C>T p.H544H Substitution - coding silent Large_intestine COSM4672119 CHD9 c.5963G>A p.R1988H Substitution - Missense Large_intestine COSM4611184 TCF19 c.66delC p.A25fs*72 Deletion - Frameshift Large_intestine COSM4641497 LMNA c.1929C>T p.T643T Substitution - coding silent Large_intestine COSM4629410 CHD6 c.4645C>T p.R1549* Substitution - Nonsense Large_intestine COSM4621262 KDM6A c.855G>T p.Q285H Substitution - Missense Large_intestine COSM4640150 AP001011.3_ENST00000320876 c.3537C>T p.Y1179Y Substitution - coding silent Large_intestine COSM4628213 SETD2 c.5461G>A p.A1821T Substitution - Missense Large_intestine COSM4804628 UHRF2 c.643G>T p.E215* Substitution - Nonsense Liver COSM4805496 JMJD1C c.6686A>G p.H2229R Substitution - Missense Liver COSM4929999 EP300 c.7131T>C p.A2377A Substitution - coding silent Liver COSM4904460 SMYD2 c.730C>T p.L244L Substitution - coding silent Skin COSM4940895 CHD7 c.4052G>A p.R1351K Substitution - Missense Liver COSM4855032 TRRAP c.9101G>A p.R3034Q Substitution - Missense Cervix COSM4840542 MBD4 c.932A>C p.K311T Substitution - Missense Cervix COSM4949633 ARID1A c.732_744del13 p.A245fs*114 Deletion - Frameshift Liver COSM4945104 ZBTB33 c.26C>G p.A9G Substitution - Missense Liver COSM4988941 TRRAP c.2861A>G p.N954S Substitution - Missense Soft_tissue COSM5012585 YEATS4 c.485C>T p.T162I Substitution - Missense Kidney COSM5205950 TDRD6 c.2399_2400delCT p.L801fs*3 Deletion - Frameshift Breast COSM5048530 PRDM9 c.860C>G p.A287G Substitution - Missense Oesophagus COSM5393859 BRD1 c.246G>A p.R82R Substitution - coding silent Skin COSM5381694 BRDT c.2827G>A p.E943K Substitution - Missense Skin COSM5371090 SFMBT2 c.49C>T p.P17S Substitution - Missense Skin COSM5509419 TRRAP c.9997A>G p.K3333E Substitution - Missense Biliary_tract COSM5493064 EP400 c.5818C>T p.R1940C Substitution - Missense Biliary_tract COSM5511731 INO80B c.153delT p.A52fs*26 Deletion - Frameshift Biliary_tract COSM5434934 CHD9 c.3586G>A p.A1196T Substitution - Missense Oesophagus COSM5445365 CHD8 c.2644A>T p.T882S Substitution - Missense Oesophagus COSM5434238 BRWD3 c.3640G>A p.E1214K Substitution - Missense Oesophagus COSM5444429 MGA c.326G>A p.R109H Substitution - Missense Oesophagus COSM5628037 CHD2 c.327C>T p.V109V Substitution - coding silent Oesophagus COSM5722748 SETBP1 c.3739G>A p.E1247K Substitution - Missense Skin COSM5742758 POGZ c.829C>T p.Q277* Substitution - Nonsense Small_intestine COSM5611315 KDM6A c.128_129CC>TT p.A43V Substitution - Missense Skin COSM5611072 TRRAP c.9716C>T p.P3239L Substitution - Missense Skin COSM5666697 NIPBL c.2920A>G p.K974E Substitution - Missense Soft_tissue COSM5698030 ZCWPW1 c.1545A>C p.L515L Substitution - coding silent Soft_tissue COSM5710270 ACTL6B c.625G>T p.E209* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5750136 NCOA6 c.2296A>T p.M766L Substitution - Missense Stomach COSM5573022 MSH6 c.819A>T p.G273G Substitution - coding silent Prostate COSM5562080 HDAC11 c.883C>T p.P295S Substitution - Missense Prostate COSM5567769 CREBBP c.7066T>C p.S2356P Substitution - Missense Prostate COSM5789077 BAHD1 c.91G>C p.E31Q Substitution - Missense Breast COSM5823767 KMT2D c.8648G>T p.G2883V Substitution - Missense Liver COSM5950612 POGZ c.3956T>C p.V1319A Substitution - Missense Prostate COSM6004560 ASXL1 c.2151G>T p.R717S Substitution - Missense Prostate COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43409 TET2 c.? p.?fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM1666676 SETBP1 c.? p.I871T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53165 TET2 c.? p.P555fs*5 Frameshift Haematopoietic_and_lymphoid_tissue COSM4767397 ATRX c.4535G>A p.R1512H Substitution - Missense Autonomic_ganglia COSM3656857 TAF1L c.2338G>A p.D780N Substitution - Missense Skin COSM1609216 SETD1A c.4254C>G p.R1418R Substitution - coding silent Liver COSM5757569 ATRX c.5939C>T p.S1980F Substitution - Missense Large_intestine COSM4477646 SMARCA4 c.2170C>T p.L724F Substitution - Missense Skin COSM4242522 RERE c.15A>G p.K5K Substitution - coding silent Oesophagus COSM4958753 PRMT7 c.322G>A p.E108K Substitution - Missense Liver COSM2820556 DNMT3L c.761G>A p.R254H Substitution - Missense Large_intestine COSM1667118 RERE c.2072G>A p.R691H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM920071 SFMBT2 c.886C>T p.R296* Substitution - Nonsense Endometrium COSM1387270 KDM6B c.3727G>A p.V1243M Substitution - Missense Large_intestine COSM144508 TET2 c.803C>G p.S268W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4461067 BAHD1 c.1191C>T p.P397P Substitution - coding silent Skin COSM606187 EYA1 c.901G>T p.G301W Substitution - Missense Skin COSM211713 TET2 c.3532G>T p.E1178* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4410659 MYST2 c.326A>G p.D109G Substitution - Missense Kidney COSM87099 TET2 c.2236C>T p.Q746* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM367980 TRIM33 c.3086G>A p.R1029H Substitution - Missense Lung COSM430521 HNF1A c.51C>G p.L17L Substitution - coding silent Liver COSM4672112 CHD9 c.3936_3937insGA p.M1316fs*8 Insertion - Frameshift Large_intestine COSM4506593 KMT2A c.7236C>T p.S2412S Substitution - coding silent Skin COSM3467585 MPHOSPH8 c.834C>T p.D278D Substitution - coding silent Skin COSM4764784 SP140_ENST00000392045 c.2511G>T p.K837N Substitution - Missense Stomach COSM4013845 EPC1 c.2238A>G p.T746T Substitution - coding silent Stomach COSM690031 DPF2 c.66G>A p.E22E Substitution - coding silent Lung COSM5607864 ARID1B c.4836T>G p.D1612E Substitution - Missense Skin COSM1076383 KDM1B c.996C>A p.F332L Substitution - Missense Endometrium COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM133131 DNMT3A c.2254T>C p.F752L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1166661 TRRAP c.3508C>T p.R1170W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5393247 SMARCB1 c.749C>T p.T250M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3370459 CHD9 c.2221A>G p.R741G Substitution - Missense Prostate COSM1444897 TDRD6 c.1593T>C p.D531D Substitution - coding silent Large_intestine COSM1179107 KMT2C c.851G>A p.R284Q Substitution - Missense Soft_tissue COSM477053 SP140_ENST00000392045 c.23G>A p.G8E Substitution - Missense Kidney COSM1233142 ZBTB38 c.2069A>G p.D690G Substitution - Missense Large_intestine COSM144564 PHF6 c.289A>T p.K97* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM2156956 BAP1 c.227T>C p.I76T Substitution - Missense Central_nervous_system COSM1132293 HDAC6 c.1699G>C p.D567H Substitution - Missense Prostate COSM1722309 MYST3 c.5079A>C p.P1693P Substitution - coding silent Skin COSM307321 ARID1A c.1896_1899delTCAG p.S634fs*12 Deletion - Frameshift Liver COSM972488 CTCF c.1133C>T p.P378L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM25188 ZMYND8 c.2227G>A p.G743R Substitution - Missense Urinary_tract COSM1125819 BRWD3 c.4241G>T p.S1414I Substitution - Missense Soft_tissue COSM471652 SETD1A c.2175C>G p.A725A Substitution - coding silent Kidney COSM5627879 TCF20 c.1186C>G p.L396V Substitution - Missense Oesophagus COSM3906839 TAF1L c.4631C>A p.S1544Y Substitution - Missense Stomach COSM4159839 PRDM9 c.2042C>G p.T681S Substitution - Missense Upper_aerodigestive_tract COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4097601 DNMT3B c.1712G>A p.R571Q Substitution - Missense Stomach COSM1451980 BAZ1B c.787C>T p.R263* Substitution - Nonsense Pancreas COSM4849291 PHF17 c.1083C>T p.F361F Substitution - coding silent Cervix COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3825267 SMARCA5 c.2061G>A p.E687E Substitution - coding silent Breast COSM1349987 HELLS c.1215T>C p.F405F Substitution - coding silent Large_intestine COSM3849111 PHF2 c.73G>A p.A25T Substitution - Missense Breast COSM1162010 MPHOSPH8 c.2458-2A>T p.? Unknown Kidney COSM1363345 MBD6 c.2074delC p.Q694fs*5 Deletion - Frameshift Large_intestine COSM5566312 PHF1 c.1556G>A p.R519H Substitution - Missense Prostate COSM2833325 GLYR1 c.384A>G p.K128K Substitution - coding silent Large_intestine COSM1221887 PRDM2 c.831T>A p.D277E Substitution - Missense Large_intestine COSM4002744 PBRM1 c.4335A>G p.P1445P Substitution - coding silent Soft_tissue COSM4674648 CREBBP c.3969A>G p.K1323K Substitution - coding silent Large_intestine COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1423552 SETD2 c.3244G>A p.D1082N Substitution - Missense Large_intestine COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4098464 CHD6 c.2042G>T p.R681L Substitution - Missense Stomach COSM138961 TP53BP1 c.4490C>T p.S1497F Substitution - Missense Skin COSM5734137 KDM1B c.1681G>A p.A561T Substitution - Missense Pancreas COSM548521 KMT2D c.5504G>A p.R1835H Substitution - Missense Lung COSM3365407 PBRM1 c.884C>A p.S295* Substitution - Nonsense Kidney COSM5611026 TRRAP c.7271C>T p.A2424V Substitution - Missense Skin COSM4726202 SIRT4 c.533G>A p.R178Q Substitution - Missense Large_intestine COSM4162024 KMT2C c.946A>T p.T316S Substitution - Missense Upper_aerodigestive_tract COSM5597097 KMT2C c.1266G>A p.M422I Substitution - Missense Skin COSM4506106 EYA4 c.710C>T p.S237F Substitution - Missense Skin COSM5005848 DNMT3L c.966C>T p.R322R Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4557174 WDR5 c.717G>A p.K239K Substitution - coding silent Skin COSM4478945 ATAD2 c.227C>T p.S76F Substitution - Missense Skin COSM1160988 PHF21A c.1479G>A p.K493K Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4008566 RAD54L c.569C>T p.T190M Substitution - Missense Stomach COSM929394 PHRF1 c.3826G>A p.D1276N Substitution - Missense Endometrium COSM1624798 EHMT1 c.1920G>A p.T640T Substitution - coding silent Liver COSM1190277 EYA2 c.372C>A p.S124R Substitution - Missense Lung COSM3724531 SMARCA4 c.4675_4678delAGCG p.S1559fs*36 Deletion - Frameshift Ovary COSM3828569 BRD9 c.1284G>A p.L428L Substitution - coding silent Breast COSM417252 CDYL2 c.780C>A p.F260L Substitution - Missense Urinary_tract COSM267547 TAF1L c.3693delT p.F1231fs*20 Deletion - Frameshift Large_intestine COSM5988501 HNF1A c.977C>T p.A326V Substitution - Missense Liver COSM3710747 KDM5A c.3044G>T p.S1015I Substitution - Missense Upper_aerodigestive_tract COSM4549347 TCF20 c.4706G>A p.G1569D Substitution - Missense Skin COSM1316907 SETD1B c.2182T>A p.F728I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3406385 KDM6A c.2355G>A p.M785I Substitution - Missense Central_nervous_system COSM5357243 NCOA7 c.137A>G p.N46S Substitution - Missense Large_intestine COSM4497488 EP400 c.4980C>T p.A1660A Substitution - coding silent Skin COSM2154354 PRDM16 c.1111T>A p.C371S Substitution - Missense Central_nervous_system COSM3989290 PHF23 c.281C>A p.A94E Substitution - Missense Kidney COSM323318 SHPRH c.1394A>G p.Y465C Substitution - Missense Liver COSM971510 FTO c.151C>A p.L51I Substitution - Missense Endometrium COSM1751563 ZGPAT c.520C>T p.H174Y Substitution - Missense Urinary_tract COSM3778721 TRRAP c.613G>C p.E205Q Substitution - Missense Urinary_tract COSM3650668 PRDM14 c.1186T>G p.S396A Substitution - Missense Skin COSM5574184 DNMT3A c.2120G>A p.G707D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1101415 NCOA2 c.2542G>A p.A848T Substitution - Missense Endometrium COSM4702480 KMT2C c.11793A>G p.G3931G Substitution - coding silent Large_intestine COSM211726 TET2 c.3980A>C p.Q1327P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM252979 CLOCK c.368delT p.L123fs*1 Deletion - Frameshift Breast COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM232879 NIPBL c.5597A>G p.K1866R Substitution - Missense Skin COSM1262946 PRDM13 c.601G>A p.A201T Substitution - Missense Oesophagus COSM1133057 SMARCB1 c.?_?del? p.? Unknown Salivary_gland COSM5997292 TIF1 c.1555C>A p.P519T Substitution - Missense Prostate COSM3934123 ASH1L c.3761G>A p.R1254H Substitution - Missense Oesophagus COSM403365 SIRT7 c.192G>T p.R64R Substitution - coding silent Lung COSM4749754 SETD5_ENST00000402198 c.3418T>G p.L1140V Substitution - Missense Stomach COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5373088 MTA2 c.1750C>T p.R584C Substitution - Missense Skin COSM422784 PBRM1 c.2354T>C p.L785P Substitution - Missense Kidney COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM451967 ZCWPW1 c.334C>G p.L112V Substitution - Missense Breast COSM3066679 SETMAR c.1325C>T p.T442M Substitution - Missense Skin COSM454719 CHD7 c.215A>G p.Y72C Substitution - Missense Breast COSM1131291 PRDM5 c.1066T>C p.S356P Substitution - Missense Prostate COSM116052 MGA c.8651A>C p.Q2884P Substitution - Missense Ovary COSM5717372 HDAC9 c.1899C>T p.G633G Substitution - coding silent Skin COSM88808 TET2 c.? p.G1288D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3767432 SETMAR c.1383T>A p.P461P Substitution - coding silent Liver COSM3922568 ING3 c.622C>T p.L208L Substitution - coding silent Skin COSM1181746 ACTR5 c.1552C>T p.R518W Substitution - Missense Large_intestine COSM221162 KMT2D c.1439delC p.P480fs*205 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5030939 PBRM1 c.? p.E742* Substitution - Nonsense Kidney COSM3363313 PCNA c.499G>C p.V167L Substitution - Missense Kidney COSM1685876 SMYD1 c.829G>A p.E277K Substitution - Missense Skin COSM1360186 EP400 c.8178A>G p.Q2726Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4898244 HCFC2 c.1751C>T p.P584L Substitution - Missense Skin COSM1633207 DHX30 c.3538C>A p.R1180R Substitution - coding silent Liver COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5032203 SETBP1 c.? p.R498Q Substitution - Missense Lung COSM5019618 DAXX c.1137T>C p.Y379Y Substitution - coding silent Soft_tissue COSM1713043 TRIM28 c.1570C>T p.R524C Substitution - Missense Skin COSM5023800 ATRX c.5263C>G p.L1755V Substitution - Missense Bone COSM1130292 TBL1XR1 c.1048-1G>C p.? Unknown Prostate COSM5893505 SFMBT2 c.506C>T p.P169L Substitution - Missense Skin COSM1183570 ARID2 c.1330G>T p.D444Y Substitution - Missense Large_intestine COSM5932387 EHMT1 c.1066C>T p.R356C Substitution - Missense Skin COSM3501418 TP53BP1 c.4199G>A p.R1400Q Substitution - Missense Skin COSM3720730 ADNP c.1490A>G p.Y497C Substitution - Missense Upper_aerodigestive_tract COSM3727494 EZH2 c.118-2delA p.? Unknown Skin COSM5560496 MTA2 c.1403T>C p.M468T Substitution - Missense Prostate COSM1215180 KMT2A c.7852C>T p.R2618C Substitution - Missense Large_intestine COSM5662542 GABRG1 c.611T>A p.L204Q Substitution - Missense Soft_tissue COSM1732154 PBRM1 c.1170T>G p.Y390* Substitution - Nonsense Kidney COSM415828 KMT2D c.15349C>T p.Q5117* Substitution - Nonsense Urinary_tract COSM1167993 ARID2 c.3937C>T p.Q1313* Substitution - Nonsense Upper_aerodigestive_tract COSM3424983 BRWD3 c.637C>T p.R213C Substitution - Missense Large_intestine COSM3427949 SETD5_ENST00000402198 c.356G>T p.R119I Substitution - Missense Large_intestine COSM3428876 LMNB1 c.1593G>T p.L531F Substitution - Missense Large_intestine COSM4482916 GTF3C1 c.2651C>T p.S884L Substitution - Missense Skin COSM273490 ZCWPW2 c.801A>C p.E267D Substitution - Missense Stomach COSM145232 CHD2 c.3810G>T p.L1270F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716951 ARID1B c.5181delG p.E1728fs*20 Deletion - Frameshift Ovary COSM1675302 SIRT1 c.1220T>C p.M407T Substitution - Missense Large_intestine COSM5009446 ACTA1 c.543C>T p.D181D Substitution - coding silent Large_intestine COSM267647 TRRAP c.4083A>G p.S1361S Substitution - coding silent Large_intestine COSM5970320 KDM2A c.2044G>A p.E682K Substitution - Missense Upper_aerodigestive_tract COSM1012905 ASXL1 c.3115C>T p.Q1039* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1099919 MYST3 c.4473C>T p.S1491S Substitution - coding silent Endometrium COSM211728 TET2 c.3965T>A p.L1322Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5495011 TDRD6 c.658G>T p.V220L Substitution - Missense Biliary_tract COSM970051 SETD1A c.4676A>G p.K1559R Substitution - Missense Endometrium COSM452904 CBX3 c.282A>G p.L94L Substitution - coding silent Breast COSM4848869 KMT2D c.5057+1G>T p.? Unknown Cervix COSM2064410 TDG c.235C>A p.P79T Substitution - Missense Thyroid COSM3786225 MTA1 c.1917C>T p.S639S Substitution - coding silent Skin COSM5044394 CHD4 c.1438C>T p.L480F Substitution - Missense Adrenal_gland COSM3981141 KAT6B c.5676G>A p.P1892P Substitution - coding silent Ovary COSM4418673 KIAA2026_ENST00000399933 c.963A>G p.P321P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1989250 MBD6 c.1882C>T p.L628L Substitution - coding silent Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM955457 BAZ1A c.3751G>A p.D1251N Substitution - Missense Endometrium COSM3402555 PRDM7 c.218G>A p.R73Q Substitution - Missense Prostate COSM3758928 DNMT3L c.832A>G p.R278G Substitution - Missense Liver COSM4111158 ATRX c.1037T>C p.L346P Substitution - Missense Stomach COSM33010 UHRF2 c.260T>A p.I87N Substitution - Missense Large_intestine COSM5929336 PHRF1 c.367C>T p.P123S Substitution - Missense Skin COSM683249 TDRD1 c.2120G>T p.W707L Substitution - Missense Lung COSM5770457 SIRT7 c.625G>A p.D209N Substitution - Missense Breast COSM5202422 SMARCC1 c.2105_2106insT p.L702fs*34 Insertion - Frameshift Breast COSM1179669 KMT2C c.943G>A p.G315S Substitution - Missense Soft_tissue COSM5959760 TDRD6 c.828C>T p.I276I Substitution - coding silent Thyroid COSM239628 DNMT3L c.736C>T p.P246S Substitution - Missense Prostate COSM72280 PRDM14 c.982G>A p.V328I Substitution - Missense Bone COSM4721044 RERE c.4472G>A p.R1491H Substitution - Missense Large_intestine COSM3755972 CBX2 c.1449G>A p.P483P Substitution - coding silent Large_intestine COSM4169293 ARID1A c.? p.Y1719* Substitution - Nonsense Biliary_tract COSM5020593 ARID1B c.1764C>T p.P588P Substitution - coding silent Soft_tissue COSM5351048 PHF17 c.1531C>T p.R511C Substitution - Missense Lung COSM3915346 PHC3 c.557C>T p.S186F Substitution - Missense Skin COSM3555267 PHF21B c.676C>T p.H226Y Substitution - Missense Skin COSM5614889 TCF20 c.4060G>C p.A1354P Substitution - Missense Lung COSM53006 EZH2 c.1200_1203delAGAA p.E401fs*22 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1745727 TRDMT1 c.676G>C p.D226H Substitution - Missense Urinary_tract COSM96794 SETD5_ENST00000402198 c.2359C>T p.Q787* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5757234 CHD7 c.6776C>A p.A2259E Substitution - Missense Large_intestine COSM999518 KDM4B c.392C>T p.P131L Substitution - Missense Pancreas COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM310828 EHMT1 c.116C>A p.A39E Substitution - Missense Lung COSM294974 ZMYM3 c.3068A>G p.E1023G Substitution - Missense Large_intestine COSM3751837 ERCC6 c.3289A>G p.M1097V Substitution - Missense Soft_tissue COSM132975 ASXL1 c.? p.L775* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1721015 ZBTB38 c.1448_1449CC>TT p.S483F Substitution - Missense Skin COSM3866240 BRDT c.795G>A p.K265K Substitution - coding silent Skin COSM5512184 NSD1 c.218G>A p.R73Q Substitution - Missense Biliary_tract COSM3997493 ZMYM1 c.658A>G p.K220E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM992 SMARCB1 c.472C>T p.R158* Substitution - Nonsense Central_nervous_system COSM1235382 BAP1 c.1717_1717delC p.L573fs*3 Deletion - Frameshift Eye COSM132978 ASXL1 c.? p.R965* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM226557 PRDM9 c.2527A>G p.N843D Substitution - Missense Thyroid COSM310083 CHD6 c.2563T>C p.F855L Substitution - Missense Lung COSM4771423 PBRM1 c.4015_4015delC p.P1339fs*45 Deletion - Frameshift Kidney COSM1716840 ASXL1 c.? p.S847fs*4 Frameshift Haematopoietic_and_lymphoid_tissue COSM3983987 EHMT2 c.3563G>T p.R1188L Substitution - Missense Thyroid COSM1002781 TRIM28 c.1147G>A p.V383M Substitution - Missense Pancreas COSM5588417 NCOA1 c.1750G>A p.D584N Substitution - Missense Skin COSM52947 IDH2 c.? p.R172? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM97088 TET2 c.4667C>A p.S1556Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3693447 NCOA6 c.2914G>T p.G972C Substitution - Missense Large_intestine COSM4578215 MGA c.2367C>T p.F789F Substitution - coding silent Bone COSM4000327 CBX4 c.871T>C p.S291P Substitution - Missense Upper_aerodigestive_tract COSM3427747 PBRM1 c.1381C>T p.R461C Substitution - Missense Soft_tissue COSM1348577 JMJD1C c.5364delA p.E1789fs*45 Deletion - Frameshift Stomach COSM1045685 DHX30 c.560G>A p.R187Q Substitution - Missense Endometrium COSM1415171 SMARCB1 c.537C>T p.N179N Substitution - coding silent Large_intestine COSM5551924 CHD6 c.755A>G p.D252G Substitution - Missense Prostate COSM945769 MPHOSPH8 c.1601T>C p.L534S Substitution - Missense Endometrium COSM4624313 DIDO1 c.3751G>A p.A1251T Substitution - Missense Large_intestine COSM1348577 JMJD1C c.5364delA p.E1789fs*45 Deletion - Frameshift Large_intestine COSM5200989 ATRX c.2519_2520delGA p.R840fs*8 Deletion - Frameshift Breast COSM4584119 TBL1XR1 c.1424C>T p.A475V Substitution - Missense Bone COSM1034769 TCF20 c.2612C>G p.S871C Substitution - Missense Endometrium COSM4955352 KAT6B c.6079A>T p.M2027L Substitution - Missense Liver COSM3812166 KMT2D c.1530A>C p.S510S Substitution - coding silent Breast COSM4609600 TDRD1 c.2321C>A p.A774E Substitution - Missense Adrenal_gland COSM731423 SETD5_ENST00000402198 c.2237C>T p.P746L Substitution - Missense Lung COSM326452 SETBP1 c.1387C>G p.R463G Substitution - Missense Lung COSM3799622 NCOA3 c.2619C>G p.I873M Substitution - Missense Urinary_tract COSM84135 AICDA c.331G>A p.A111T Substitution - Missense Lung COSM5832892 RTF1 c.1406_1408delTTA p.F469_T470>S Complex - deletion inframe Breast COSM20426 TRRAP c.6850C>T p.R2284W Substitution - Missense Large_intestine COSM5572408 MBD5 c.544T>C p.Y182H Substitution - Missense Prostate COSM4165922 KDM2A c.594-5G>A p.? Unknown Kidney COSM2235551 ARID1A c.5819C>T p.P1940L Substitution - Missense Skin COSM88749 CREBBP c.4336C>T p.R1446C Substitution - Missense Breast COSM4136853 PHF20 c.1422G>A p.K474K Substitution - coding silent Ovary COSM3787275 NCOR1 c.2016A>G p.R672R Substitution - coding silent Pancreas COSM3942627 ELP3 c.1327G>A p.D443N Substitution - Missense Oesophagus COSM4885077 ATRX c.5283G>T p.M1761I Substitution - Missense Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5610641 SMARCA4 c.3991C>T p.P1331S Substitution - Missense Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3092507 PHF8 c.1498C>A p.L500I Substitution - Missense Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4168253 PHF6 c.128_129insGAGTC p.H43fs*40 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5691105 PHC2 c.1345C>T p.Q449* Substitution - Nonsense Soft_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3779298 CHD7 c.1687C>T p.L563L Substitution - coding silent Urinary_tract COSM1600853 GATAD2B c.928C>T p.R310C Substitution - Missense Liver COSM3368112 SFMBT2 c.194A>G p.H65R Substitution - Missense Thyroid COSM3296167 MBD5 c.2174C>G p.A725G Substitution - Missense Upper_aerodigestive_tract COSM234638 DNMT1 c.4677C>T p.F1559F Substitution - coding silent Skin COSM1324011 PCGF2 c.811G>C p.A271P Substitution - Missense Ovary COSM4621550 SFMBT2 c.241G>A p.E81K Substitution - Missense Large_intestine COSM1625983 KDM5C c.1861G>T p.D621Y Substitution - Missense Liver COSM322805 PRDM9 c.1678G>T p.G560C Substitution - Missense Lung COSM4702426 KMT2D c.11708C>T p.P3903L Substitution - Missense Skin COSM2098715 CHD4 c.63T>C p.D21D Substitution - coding silent Stomach COSM3660768 SETD5_ENST00000402198 c.362A>T p.H121L Substitution - Missense Liver COSM5805290 CHD1 c.2293A>T p.I765F Substitution - Missense Liver COSM4912781 DUSP1 c.409A>C p.S137R Substitution - Missense Liver COSM5019733 KMT2D c.9861A>G p.P3287P Substitution - coding silent Soft_tissue COSM3160334 PHF3 c.5342C>A p.T1781N Substitution - Missense Large_intestine COSM3546374 CHD6 c.1280A>G p.E427G Substitution - Missense Skin COSM239307 CHD3 c.841C>T p.R281C Substitution - Missense Prostate COSM361130 KMT2A c.6445A>G p.S2149G Substitution - Missense Lung COSM1018634 HDAC4 c.928G>A p.V310I Substitution - Missense Endometrium COSM139981 EP400 c.160C>T p.P54S Substitution - Missense Skin COSM5817642 TAF1L c.801A>T p.P267P Substitution - coding silent Liver COSM4590631 GLYR1 c.1377C>G p.H459Q Substitution - Missense Upper_aerodigestive_tract COSM908639 ZMYM1 c.1270C>T p.Q424* Substitution - Nonsense Endometrium COSM1017658 SP100 c.1345C>T p.R449C Substitution - Missense Endometrium COSM27618 KMT2A c.5711C>T p.A1904V Substitution - Missense Kidney COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM30369 SETD2 c.2965C>T p.R989* Substitution - Nonsense Kidney COSM24911 HNF1A c.686G>A p.R229Q Substitution - Missense Liver COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM29382 SMARCB1 c.1143delG p.A382fs*5 Deletion - Frameshift Central_nervous_system COSM51424 ARID1A c.1029_1043del15 p.A344_A348del Deletion - In frame Ovary COSM80158 MBD6 c.1044C>G p.A348A Substitution - coding silent Ovary COSM80177 KMT2D c.8268C>T p.G2756G Substitution - coding silent Ovary COSM96228 TDG c.879G>A p.K293K Substitution - coding silent Ovary COSM100076 TET2 c.1777C>T p.Q593* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM87139 TET2 c.3908G>A p.S1303N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM112087 TDG c.286_287insA p.I98fs*6 Insertion - Frameshift Upper_aerodigestive_tract COSM96442 EP300 c.4401_4402insA p.M1470fs*3 Insertion - Frameshift Large_intestine COSM121631 PRDM5 c.1257A>G p.L419L Substitution - coding silent Upper_aerodigestive_tract COSM142957 BRD3 c.1831_1832CC>TT p.P611F Substitution - Missense Skin COSM148423 SETBP1 c.3301G>A p.V1101I Substitution - Missense Soft_tissue COSM149732 PRDM5 c.1234T>C p.L412L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM148893 KDM3A c.3561A>G p.E1187E Substitution - coding silent Stomach COSM165144 TRIM66 c.826G>C p.D276H Substitution - Missense Breast COSM166408 CREBBP c.4471C>A p.Q1491K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM219096 ASXL1 c.1910_1932del23 p.A637fs*13 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM249460 BAP1 c.71T>A p.V24D Substitution - Missense Kidney COSM254549 ARID1A c.5009G>A p.W1670* Substitution - Nonsense Urinary_tract COSM267173 PHF21A c.931A>G p.T311A Substitution - Missense Large_intestine COSM298921 NCOA3 c.2983G>A p.A995T Substitution - Missense Large_intestine COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Large_intestine COSM328707 TDRD3 c.1446G>T p.Q482H Substitution - Missense Liver COSM341707 BAZ1A c.4561A>G p.R1521G Substitution - Missense Lung COSM338826 ZCWPW1 c.687A>G p.L229L Substitution - coding silent Lung COSM366661 TRRAP c.744T>G p.A248A Substitution - coding silent Lung COSM367322 PHF21B c.233T>C p.I78T Substitution - Missense Lung COSM356742 EP400 c.5248C>T p.R1750C Substitution - Missense Large_intestine COSM423835 TDRKH c.1524G>C p.M508I Substitution - Missense Breast COSM405075 MGA c.7587_7590delATTG p.L2530fs*1 Deletion - Frameshift Lung COSM459746 CHD6 c.2856G>A p.V952V Substitution - coding silent Cervix COSM976124 RAI1 c.3424C>T p.R1142C Substitution - Missense Endometrium COSM977564 SUZ12 c.1295T>G p.F432C Substitution - Missense Endometrium COSM679570 SMYD3 c.531C>A p.T177T Substitution - coding silent Lung COSM690383 KDM2A c.662G>T p.W221L Substitution - Missense Lung COSM693292 PRMT8 c.1011G>T p.Q337H Substitution - Missense Lung COSM1047337 ACTR8 c.1695A>G p.R565R Substitution - coding silent Endometrium COSM1017587 SP110 c.919G>A p.G307R Substitution - Missense Endometrium COSM936095 SETD1B c.1925G>A p.R642H Substitution - Missense Large_intestine COSM1018606 ATAD2B_ENST00000238789 c.3962C>T p.S1321L Substitution - Missense Endometrium COSM1031239 AIRE c.272G>A p.G91D Substitution - Missense Endometrium COSM921424 BTAF1 c.1103G>A p.R368H Substitution - Missense Endometrium COSM757235 KDM6A c.1555C>T p.R519* Substitution - Nonsense Oesophagus COSM698263 ARID4A c.2645C>G p.S882C Substitution - Missense Lung COSM740197 L3MBTL3 c.42T>A p.D14E Substitution - Missense Lung COSM723659 CHD6 c.6133C>T p.P2045S Substitution - Missense Lung COSM908675 ZMYM4 c.1837-1G>T p.? Unknown Endometrium COSM1034556 EP300 c.3977T>C p.V1326A Substitution - Missense Endometrium COSM1071739 PRDM1 c.894T>C p.T298T Substitution - coding silent Endometrium COSM1122157 SUV39H1 c.864G>T p.Q288H Substitution - Missense Endometrium COSM4032944 PHF21A c.648A>G p.V216V Substitution - coding silent Stomach COSM1121695 PHF16 c.1158C>T p.S386S Substitution - coding silent Endometrium COSM1245913 BAHCC1 c.3185G>A p.R1062H Substitution - Missense Oesophagus COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1184899 BRD4 c.1680T>A p.N560K Substitution - Missense Large_intestine COSM1202269 CREBBP c.6596A>T p.Q2199L Substitution - Missense Stomach COSM1195906 KDM4B c.886C>T p.R296W Substitution - Missense Lung COSM1220335 PHF12 c.1070G>A p.R357Q Substitution - Missense Large_intestine COSM1224354 RTF1 c.1744C>T p.R582* Substitution - Nonsense Cervix COSM1606741 PHC1 c.1165C>T p.Q389* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1304290 DOT1L c.343T>A p.Y115N Substitution - Missense Urinary_tract COSM1329948 KMT2C c.11241C>T p.N3747N Substitution - coding silent Ovary COSM1334646 ASH1L c.7604G>A p.R2535Q Substitution - Missense Large_intestine COSM1324135 RAI1 c.840G>A p.Q280Q Substitution - coding silent Large_intestine COSM1324452 CREBBP c.1170C>G p.N390K Substitution - Missense Ovary COSM1391100 BRD4 c.266C>T p.A89V Substitution - Missense Large_intestine COSM1387280 BAHCC1 c.1338C>T p.A446A Substitution - coding silent Large_intestine COSM1429842 GABRG1 c.238C>T p.R80C Substitution - Missense Skin COSM1341863 PRDM16 c.1006C>T p.R336C Substitution - Missense Large_intestine COSM1363351 MBD6 c.2458T>C p.S820P Substitution - Missense Skin COSM1531244 HDAC4 c.1548G>A p.R516R Substitution - coding silent Large_intestine COSM1608851 CHD2 c.1160A>G p.K387R Substitution - Missense Liver COSM1495933 LMNB1 c.1258G>A p.D420N Substitution - Missense Kidney COSM1628808 YEATS4 c.426+3A>G p.? Unknown Liver COSM1686463 INTS12 c.657+1G>C p.? Unknown Skin COSM1668759 DNMT3A c.2283G>A p.M761I Substitution - Missense Large_intestine COSM1659057 ARID1A c.4069C>T p.Q1357* Substitution - Nonsense Salivary_gland COSM1705491 ARID2 c.3298C>T p.Q1100* Substitution - Nonsense Liver COSM1717326 ALKBH3 c.552G>C p.E184D Substitution - Missense Ovary COSM2080358 ZMYM4 c.3544A>G p.I1182V Substitution - Missense Thyroid COSM2079997 ZMYM6 c.3498C>T p.F1166F Substitution - coding silent Skin COSM2098515 CHD4 c.2835_2836insA p.L946fs*3 Insertion - Frameshift Large_intestine COSM2783380 ATXN7 c.1161C>T p.A387A Substitution - coding silent Large_intestine COSM3296115 MBD5 c.882G>A p.R294R Substitution - coding silent Upper_aerodigestive_tract COSM3291724 CHD6 c.1948C>T p.P650S Substitution - Missense Skin COSM3426270 ATAD2B_ENST00000238789 c.2137G>A p.E713K Substitution - Missense Large_intestine COSM3461519 KMT2D c.13427G>A p.R4476Q Substitution - Missense Skin COSM3474971 ASH1L c.3054C>T p.L1018L Substitution - coding silent Skin COSM3615189 PRDM9 c.310C>T p.P104S Substitution - Missense Skin COSM3630086 PHIP c.3982T>C p.L1328L Substitution - coding silent Skin COSM3627965 TDRD6 c.4703C>A p.P1568H Substitution - Missense Skin COSM3663764 MYST3 c.4997C>T p.P1666L Substitution - Missense Liver COSM3682140 SMC1A c.363A>T p.L121F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3668496 NCOA5 c.437A>T p.D146V Substitution - Missense Liver COSM3735035 SMARCA4 c.3168+1G>C p.? Unknown Ovary COSM3781644 DHX30 c.1775C>T p.A592V Substitution - Missense Pancreas COSM3796387 ASXL3 c.1310C>T p.S437L Substitution - Missense Urinary_tract COSM3790664 TRDMT1 c.121G>A p.E41K Substitution - Missense Urinary_tract COSM3790816 ERCC6 c.235C>T p.Q79* Substitution - Nonsense Urinary_tract COSM3939687 HDAC10 c.1357C>T p.R453W Substitution - Missense Oesophagus COSM3940010 SUV39H1 c.875G>C p.R292P Substitution - Missense Oesophagus COSM3881874 ACTB c.586C>T p.R196C Substitution - Missense Stomach COSM3972885 SMARCB1 c.1129C>T p.R377C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3978050 PCGF6 c.865G>C p.E289Q Substitution - Missense Lung COSM4099095 NCOA3 c.1480T>C p.S494P Substitution - Missense Stomach COSM4099353 ADNP c.1831G>A p.A611T Substitution - Missense Stomach COSM4106113 MSL3 c.1196C>T p.S399F Substitution - Missense Stomach COSM4060693 CREBBP c.6431C>T p.A2144V Substitution - Missense Stomach COSM4156642 FMR1 c.357A>C p.K119N Substitution - Missense Upper_aerodigestive_tract COSM4170060 TET2 c.3781C>A p.R1261S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4170466 KMT2D c.573delG p.L192fs*16 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4388590 KDM2B c.400A>C p.T134P Substitution - Missense Pancreas COSM4385038 DNMT1 c.4479C>A p.N1493K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4387473 EP300 c.4505C>T p.P1502L Substitution - Missense Oesophagus COSM4384662 KDM5A c.970A>G p.I324V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4385119 ASXL1 c.3005delC p.S1003fs*21 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4507324 SETD2 c.5927C>T p.S1976F Substitution - Missense Skin COSM4547704 SFMBT2 c.429G>A p.P143P Substitution - coding silent Skin COSM4575960 SETDB2 c.246T>C p.D82D Substitution - coding silent Bone COSM4588032 ELP3 c.688C>T p.R230* Substitution - Nonsense Bone COSM4525948 SHPRH c.1364G>A p.G455E Substitution - Missense Skin COSM4506171 CBX6 c.712C>T p.P238S Substitution - Missense Skin COSM4552850 NIPBL c.5733G>A p.Q1911Q Substitution - coding silent Skin COSM4485748 SIRT2 c.296C>T p.P99L Substitution - Missense Skin COSM4540844 ZCWPW1 c.28G>A p.E10K Substitution - Missense Skin COSM4445853 EED c.861-3C>T p.? Unknown Skin COSM4448963 UTY c.152+2T>C p.? Unknown Skin COSM4467676 SUV420H1 c.1501C>T p.Q501* Substitution - Nonsense Skin COSM4663931 ATAD2B_ENST00000238789 c.3886T>C p.C1296R Substitution - Missense Large_intestine COSM4735444 TP53BP1 c.3941G>A p.R1314H Substitution - Missense Large_intestine COSM4619459 ZBTB4 c.1247G>A p.R416H Substitution - Missense Large_intestine COSM4644722 KDM1B c.1366G>A p.A456T Substitution - Missense Large_intestine COSM4753727 SETBP1 c.2842C>T p.R948C Substitution - Missense Stomach COSM4911370 CHD7 c.5842G>A p.V1948M Substitution - Missense Liver COSM4917677 BRPF1 c.316C>T p.R106C Substitution - Missense Liver COSM4877345 GLYATL1 c.498G>A p.T166T Substitution - coding silent Prostate COSM4951287 TAF3 c.613C>A p.L205I Substitution - Missense Liver COSM4950043 SUZ12 c.1859_1860delAT p.H620fs*9 Deletion - Frameshift Liver COSM4950376 ARID1A c.5669G>T p.G1890V Substitution - Missense Liver COSM4984989 HNF1A c.1460G>A p.S487N Substitution - Missense Liver COSM5005770 TRIM24 c.1056C>G p.L352L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5051276 HCFC2 c.205C>T p.P69S Substitution - Missense Stomach COSM5037059 AP001011.3_ENST00000320876 c.2748G>C p.Q916H Substitution - Missense Oesophagus COSM5038428 SIRT5 c.331A>G p.S111G Substitution - Missense Skin COSM5350963 ZCWPW2 c.657+9G>T p.? Unknown Lung COSM5365012 DNMT1 c.3235G>A p.G1079S Substitution - Missense Large_intestine COSM5490875 TP53BP1 c.4468C>T p.R1490C Substitution - Missense Biliary_tract COSM5520842 ARID1A c.3433C>T p.Q1145* Substitution - Nonsense Biliary_tract COSM5519292 MTA1 c.231C>T p.N77N Substitution - coding silent Biliary_tract COSM5477612 POGZ c.6G>A p.A2A Substitution - coding silent Large_intestine COSM5463232 MECOM c.860A>G p.H287R Substitution - Missense Large_intestine COSM5456481 MGA c.2293C>A p.L765I Substitution - Missense Large_intestine COSM5434499 PRDM2 c.2642G>C p.R881T Substitution - Missense Oesophagus COSM5424521 ARID4A c.3735A>G p.S1245S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5655931 ARID1B c.160_198del39 p.F55_Q67del13 Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM5722205 ARID4A c.493G>C p.E165Q Substitution - Missense Skin COSM5605384 ZCWPW2 c.716G>A p.R239K Substitution - Missense Skin COSM5596226 ADNP c.1369C>T p.P457S Substitution - Missense Skin COSM5656881 STK31 c.876G>T p.G292G Substitution - coding silent Soft_tissue COSM5674118 CHD4 c.1142A>T p.E381V Substitution - Missense Soft_tissue COSM5678681 TAF1 c.2445C>T p.F815F Substitution - coding silent Soft_tissue COSM5554838 EP300 c.5579G>A p.G1860D Substitution - Missense Prostate COSM5784206 BRWD3 c.1155T>C p.D385D Substitution - coding silent Breast COSM5785800 DNMT3A c.767C>T p.P256L Substitution - Missense Breast COSM5789665 CTCF c.1053C>G p.F351L Substitution - Missense Breast COSM5880306 PHF6 c.586_587insA p.R196fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5883630 SETD4 c.510T>G p.F170L Substitution - Missense Breast COSM5942914 PRDM15 c.891G>T p.P297P Substitution - coding silent Skin COSM5910981 SMCHD1 c.1433T>C p.L478S Substitution - Missense Skin COSM5959319 SMYD1 c.302A>G p.N101S Substitution - Missense Thyroid COSM5979996 PWWP2B c.859C>G p.Q287E Substitution - Missense Upper_aerodigestive_tract COSM5990383 KDM5C c.197C>T p.T66I Substitution - Missense Liver COSM5985897 RNF17 c.1233C>T p.N411N Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5989188 DNMT3A c.682G>T p.E228* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5981689 ASXL1 c.1438G>A p.E480K Substitution - Missense Upper_aerodigestive_tract COSM5994494 BRPF1 c.2984G>A p.R995H Substitution - Missense Prostate COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96477 IDH2 c.? p.R140G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM51384 IDH1 c.? p.R132L Substitution - Missense Bone COSM4167275 TET2 c.? p.N1489fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM43409 TET2 c.? p.?fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM4606371 PHF6 c.?_?insATCCT p.S246fs*? Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM21481 HNF1A c.872_873insC p.G292fs*25 Insertion - Frameshift Liver COSM1436880 PRDM9 c.726G>T p.L242L Substitution - coding silent Large_intestine COSM3614504 NSD1 c.3265G>A p.D1089N Substitution - Missense Skin COSM4629163 PRMT2 c.1029T>C p.F343F Substitution - coding silent Large_intestine COSM1509531 MEN1 c.553G>T p.V185L Substitution - Missense Large_intestine COSM126318 SMARCA4 c.3702C>A p.F1234L Substitution - Missense Upper_aerodigestive_tract COSM329085 TET2 c.4513G>A p.A1505T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4766174 TET2 c.5734C>T p.H1912Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1087431 SMARCD3 c.1213G>T p.G405C Substitution - Missense Endometrium COSM36248 IDH1 c.? p.R132? Substitution - Missense Bone COSM414768 RERE c.4270C>G p.P1424A Substitution - Missense Urinary_tract COSM3745964 TAF1L c.5205A>G p.P1735P Substitution - coding silent Liver COSM1128636 ATF7IP c.1589A>G p.K530R Substitution - Missense Prostate COSM3733522 NCOR1 c.59A>C p.Y20S Substitution - Missense Thyroid COSM166291 TET2 c.5681C>T p.P1894L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1666193 KMT2A c.8873A>C p.K2958T Substitution - Missense Eye COSM4711392 PBRM1 c.1550A>G p.N517S Substitution - Missense Large_intestine COSM913239 BRDT c.1526C>A p.P509H Substitution - Missense Endometrium COSM1023496 KDM3A c.1438C>T p.R480* Substitution - Nonsense Central_nervous_system COSM4043678 BAZ2A_ENST00000379441 c.2204G>T p.R735I Substitution - Missense Stomach COSM4921350 PHF21B c.860T>C p.L287P Substitution - Missense Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM100056 TET2 c.2332C>T p.Q778* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1027526 ZMYND8 c.1718G>C p.R573P Substitution - Missense Endometrium COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4445218 CHD7 c.3059delT p.L1020fs*1 Deletion - Frameshift Large_intestine COSM4675313 CTCF c.2055A>G p.I685M Substitution - Missense Large_intestine COSM693907 ARID2 c.1868G>T p.R623L Substitution - Missense Lung COSM4162008 KMT2C c.2578C>T p.P860S Substitution - Missense Large_intestine COSM3407970 SMYD5 c.314G>A p.R105Q Substitution - Missense Central_nervous_system COSM1493646 GTF3C1 c.981C>T p.D327D Substitution - coding silent Kidney COSM4958424 PHF17 c.1033C>T p.R345W Substitution - Missense Liver COSM5342474 RAD54L c.471G>A p.Q157Q Substitution - coding silent Large_intestine COSM3709523 HDAC4 c.1401G>T p.S467S Substitution - coding silent Liver COSM41294 IDH1 c.? p.R132C Substitution - Missense Soft_tissue COSM423062 PBRM1 c.1119_1122delAGAA p.E374fs*29 Deletion - Frameshift Kidney COSM3987446 TDRD3 c.1206T>C p.A402A Substitution - coding silent Kidney COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM5038166 SMARCC2 c.1583C>T p.T528I Substitution - Missense Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM100074 TET2 c.2742_2742delT p.A915fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM443330 KDM3A c.2486G>A p.S829N Substitution - Missense Breast COSM2158617 JMJD1C c.178C>T p.R60C Substitution - Missense Central_nervous_system COSM5418070 CHD9 c.4406_4407insAA p.A1470fs*35 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5658386 ATAD2B_ENST00000238789 c.1018_1020delTCT p.S340delS Deletion - In frame Soft_tissue COSM1127586 HCFC2 c.1416T>G p.A472A Substitution - coding silent Prostate COSM243237 BRPF1 c.1779G>A p.R593R Substitution - coding silent Prostate COSM1678382 RTF1 c.1279C>T p.Q427* Substitution - Nonsense Large_intestine COSM3750192 PHF2 c.2964G>T p.P988P Substitution - coding silent Lung COSM916828 TRDMT1 c.676G>T p.D226Y Substitution - Missense Endometrium COSM700634 MGA c.7582G>A p.D2528N Substitution - Missense Lung COSM3691026 GLYR1 c.932C>G p.A311G Substitution - Missense Large_intestine COSM206268 KMT2C c.3639C>T p.S1213S Substitution - coding silent Stomach COSM1738142 EZH2 c.? p.E379del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM2813539 SMARCA4 c.1396C>T p.R466C Substitution - Missense Pituitary COSM1671836 LMNB1 c.1478G>A p.G493D Substitution - Missense Large_intestine COSM4754287 ARID2 c.1337T>A p.L446* Substitution - Nonsense Stomach COSM3750243 TRIM33 c.1146A>G p.Q382Q Substitution - coding silent Soft_tissue COSM1165360 MUM1 c.1143G>C p.G381G Substitution - coding silent Large_intestine COSM4423035 ATRX c.5406_5407insA p.R1803fs*7 Insertion - Frameshift Central_nervous_system COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41715 ASXL1 c.3202C>T p.R1068* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM2139529 ALKBH1 c.799G>A p.A267T Substitution - Missense Large_intestine COSM3939836 FMR1 c.549G>T p.M183I Substitution - Missense Oesophagus COSM5945892 ARID1A c.3919C>T p.P1307S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM728096 ZBTB38 c.430G>A p.V144I Substitution - Missense Lung COSM2229149 EP400 c.5163C>T p.N1721N Substitution - coding silent Large_intestine COSM961540 MGA c.8076C>T p.D2692D Substitution - coding silent Prostate COSM4460201 HDAC2 c.1156C>T p.P386S Substitution - Missense Skin COSM1484261 EP300 c.980C>T p.A327V Substitution - Missense Breast COSM984426 ZBTB4 c.1220C>T p.P407L Substitution - Missense Endometrium COSM982731 SMARCD2 c.204G>A p.A68A Substitution - coding silent Endometrium COSM977570 SUZ12 c.1993G>T p.D665Y Substitution - Missense Endometrium COSM5767757 NCOA6 c.2204A>G p.N735S Substitution - Missense Breast COSM4170091 PRDM1 c.1694delG p.P566fs*73 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5385798 RAI1 c.5131T>C p.C1711R Substitution - Missense Skin COSM5797261 DHX30 c.1972C>G p.L658V Substitution - Missense Breast COSM4508798 KMT2D c.7065C>T p.L2355L Substitution - coding silent Skin COSM1732097 PBRM1 c.3470G>A p.W1157* Substitution - Nonsense Kidney COSM4445231 CHD8 c.7497C>T p.P2499P Substitution - coding silent Large_intestine COSM1739280 BRPF3 c.2749G>A p.G917S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87162 TET2 c.4144C>T p.H1382Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2773690 KIAA1045 c.106C>T p.R36C Substitution - Missense Stomach COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM473249 BPTF c.7975C>G p.Q2659E Substitution - Missense Kidney COSM1215174 KMT2A c.2797C>T p.R933W Substitution - Missense Biliary_tract COSM1307802 BRWD1 c.1603G>C p.D535H Substitution - Missense Urinary_tract COSM3767433 SETMAR c.1650C>T p.P550P Substitution - coding silent Liver COSM4630279 PHF12 c.1203C>T p.D401D Substitution - coding silent Stomach COSM5421444 ACTR5 c.1317T>G p.Y439* Substitution - Nonsense Prostate COSM5713526 KMT2D c.2777_2778delTC p.L926fs*7 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1319426 SMC1A c.287G>A p.R96H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2965468 KDM6A c.3786A>G p.Q1262Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3830351 BRPF3 c.3492G>A p.K1164K Substitution - coding silent Breast COSM4665996 BPTF c.2597A>G p.K866R Substitution - Missense Large_intestine COSM2834132 BRD7 c.1560G>T p.A520A Substitution - coding silent Large_intestine COSM4448262 BAHCC1 c.1140G>A p.Q380Q Substitution - coding silent Skin COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM1034777 TCF20 c.1028A>T p.Q343L Substitution - Missense Endometrium COSM144229 DAXX c.1885_1886insC p.C629fs*29 Insertion - Frameshift Central_nervous_system COSM1743005 CHD6 c.5014C>G p.L1672V Substitution - Missense Biliary_tract COSM1217356 NIPBL c.5044C>T p.R1682* Substitution - Nonsense Large_intestine COSM5780456 TAF1L c.741C>T p.T247T Substitution - coding silent Breast COSM3751679 TRDMT1 c.168G>A p.T56T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1184484 BAZ2A_ENST00000379441 c.364C>A p.P122T Substitution - Missense Stomach COSM5039576 SMCHD1 c.943G>A p.A315T Substitution - Missense Liver COSM20659 TAF1L c.2553delA p.A852fs*14 Deletion - Frameshift Large_intestine COSM3693431 ASXL1 c.4520C>T p.A1507V Substitution - Missense Large_intestine COSM5447034 KDM1A c.1655T>C p.I552T Substitution - Missense Large_intestine COSM1664500 TCF20 c.4772C>G p.A1591G Substitution - Missense Kidney COSM5663270 RNF17 c.1363A>G p.S455G Substitution - Missense Soft_tissue COSM328564 NIPBL c.423T>A p.N141K Substitution - Missense Kidney COSM4694873 KDM2A c.1619C>T p.P540L Substitution - Missense Large_intestine COSM3742767 MUM1 c.23T>C p.V8A Substitution - Missense Liver COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1087609 KMT2C c.4593G>A p.A1531A Substitution - coding silent Endometrium COSM5823041 CHD2 c.4400A>T p.E1467V Substitution - Missense Liver COSM125334 PHF16 c.1775C>T p.S592L Substitution - Missense Endometrium COSM3802112 ASH1L c.7690G>C p.E2564Q Substitution - Missense Breast COSM270712 MECP2 c.911A>G p.K304R Substitution - Missense Large_intestine COSM97157 PRDM1 c.594_595delGA p.N200fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1741518 EP300 c.2532_2533insT p.T845fs*64 Insertion - Frameshift Urinary_tract COSM5880307 PHF6 c.971T>C p.L324P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5995288 WHSC1 c.3277G>A p.V1093I Substitution - Missense Prostate COSM5692613 BPTF c.1441G>C p.E481Q Substitution - Missense Soft_tissue COSM3673984 DHX30 c.2753G>T p.R918L Substitution - Missense Prostate COSM1067093 PRDM9 c.2379T>A p.S793R Substitution - Missense Endometrium COSM254541 ARID1A c.3634C>T p.Q1212* Substitution - Nonsense Pancreas COSM5491113 RAD54L c.1302_1304delAGA p.E436delE Deletion - In frame Biliary_tract COSM4642510 EPC2 c.155A>G p.E52G Substitution - Missense Large_intestine COSM243679 CHD8 c.884A>G p.Q295R Substitution - Missense Prostate COSM3733029 ARID1A c.1277delC p.P427fs*6 Deletion - Frameshift Stomach COSM942081 MBD6 c.448C>T p.R150* Substitution - Nonsense Endometrium COSM1446052 PHIP c.3675G>A p.M1225I Substitution - Missense Large_intestine COSM5548716 SHPRH c.4552G>A p.A1518T Substitution - Missense Prostate COSM3237276 KDM3B c.894A>T p.A298A Substitution - coding silent Upper_aerodigestive_tract COSM5734148 KIAA2026_ENST00000399933 c.5564C>T p.A1855V Substitution - Missense Pancreas COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1107169 EHMT1 c.581G>A p.R194Q Substitution - Missense Endometrium COSM3966611 KDM4A c.890T>C p.I297T Substitution - Missense Central_nervous_system COSM5887986 KMT2C c.3434-8C>T p.? Unknown Skin COSM5771714 TAF1 c.2348G>T p.G783V Substitution - Missense Breast COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1420707 TBL1XR1 c.337G>A p.A113T Substitution - Missense Large_intestine COSM3733336 KMT2C c.2263C>T p.Q755* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4134443 DNMT3B c.1674T>C p.Y558Y Substitution - coding silent Thyroid COSM5909554 BPTF c.5327C>T p.S1776F Substitution - Missense Skin COSM3944339 CHD2 c.3425C>T p.A1142V Substitution - Missense Ovary COSM4071685 AP001011.3_ENST00000320876 c.415A>C p.N139H Substitution - Missense Stomach COSM5495548 ARID4A c.668C>G p.S223C Substitution - Missense Biliary_tract COSM1581240 KMT2C c.7846C>T p.P2616S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM258257 TRRAP c.629G>A p.R210Q Substitution - Missense Large_intestine COSM4002747 PBRM1 c.3597A>T p.P1199P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5358112 TIF1 c.767A>G p.Y256C Substitution - Missense Large_intestine COSM674884 PRDM2 c.4983G>C p.L1661F Substitution - Missense Lung COSM924945 PRDM10 c.2766C>T p.Y922Y Substitution - coding silent Endometrium COSM5006580 SETD2 c.?_?del? p.?fs Deletion - Frameshift Kidney COSM5904161 SP100 c.241C>T p.R81C Substitution - Missense Skin COSM987416 AP001011.3_ENST00000320876 c.4500A>G p.P1500P Substitution - coding silent Endometrium COSM5015780 KMT2C c.5234C>A p.S1745* Substitution - Nonsense Kidney COSM5047428 PRDM2 c.3343G>C p.E1115Q Substitution - Missense Oesophagus COSM4563134 NCOA3 c.95G>A p.S32N Substitution - Missense Skin COSM4949921 BRWD3 c.4172A>T p.Y1391F Substitution - Missense Liver COSM1609130 GTF3C1 c.1658T>G p.L553R Substitution - Missense Liver COSM3751837 ERCC6 c.3289A>G p.M1097V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4005203 KDM5D c.637G>A p.A213T Substitution - Missense Urinary_tract COSM4067499 MYST2 c.54C>T p.S18S Substitution - coding silent Stomach COSM2797866 BPTF c.7770delA p.K2592fs*36 Deletion - Frameshift Large_intestine COSM4505478 ACTL6B c.693C>T p.P231P Substitution - coding silent Skin COSM5632867 SETDB2 c.23C>T p.A8V Substitution - Missense Oesophagus COSM1492341 BTAF1 c.3310-2A>T p.? Unknown Kidney COSM5355181 SMARCC1 c.1000C>T p.P334S Substitution - Missense Large_intestine COSM4467873 MBD1 c.1437C>T p.A479A Substitution - coding silent Skin COSM41877 IDH2 c.418C>T p.R140W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM226200 EYA1 c.752C>T p.S251F Substitution - Missense Skin COSM3777988 MLL5 c.1698G>A p.Q566Q Substitution - coding silent Urinary_tract COSM5613515 EP400 c.9021G>C p.Q3007H Substitution - Missense Lung COSM41909 TET2 c.4072T>G p.C1358G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM461558 BAZ1B c.1549G>C p.E517Q Substitution - Missense Cervix COSM3450136 GLYATL1 c.392G>A p.R131K Substitution - Missense Skin COSM4100475 ZGPAT c.40C>G p.R14G Substitution - Missense Stomach COSM5945417 ASXL1 c.2426C>T p.A809V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5945581 PHF6 c.323C>A p.A108E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1751676 AIRE c.1118C>T p.A373V Substitution - Missense Urinary_tract COSM4590784 ATF7IP c.2647C>A p.Q883K Substitution - Missense Upper_aerodigestive_tract COSM5945578 PHF6 c.322G>A p.A108T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4160860 EHMT2 c.3499A>C p.T1167P Substitution - Missense Thyroid COSM243045 ARID1A c.3736A>T p.M1246L Substitution - Missense Prostate COSM338578 MBD2 c.392C>T p.S131L Substitution - Missense Lung COSM3954828 KMT2D c.13834-2A>G p.? Unknown Lung COSM939489 ARID2 c.211G>T p.E71* Substitution - Nonsense Large_intestine COSM3547329 EYA2 c.330C>T p.S110S Substitution - coding silent Skin COSM1636549 KDM6A c.1460T>G p.L487* Substitution - Nonsense Liver COSM5585479 INOC1 c.2985C>A p.T995T Substitution - coding silent Skin COSM1241439 KMT2C c.12195G>A p.A4065A Substitution - coding silent Soft_tissue COSM5367135 TAF1 c.363C>T p.S121S Substitution - coding silent Large_intestine COSM1222117 PRMT8 c.854C>T p.T285M Substitution - Missense Large_intestine COSM4836377 PRDM2 c.3127G>T p.A1043S Substitution - Missense Cervix COSM88793 EP300 c.4617+1G>A p.? Unknown Oesophagus COSM374254 BPTF c.4834A>G p.T1612A Substitution - Missense Lung COSM429691 KDM2A c.1480-1G>T p.? Unknown Breast COSM203096 ATAD2 c.354delA p.E119fs*8 Deletion - Frameshift Biliary_tract COSM220216 DNMT3B c.2072C>T p.P691L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM231568 DNMT3A c.2578T>C p.W860R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1256217 L3MBTL4 c.92A>T p.K31M Substitution - Missense Oesophagus COSM5620321 ATAD2B_ENST00000238789 c.2268G>A p.M756I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM424703 TDRD5 c.1734G>A p.K578K Substitution - coding silent Breast COSM1616090 PRDM15 c.4470G>A p.A1490A Substitution - coding silent Liver COSM703231 SETD1A c.2040C>T p.F680F Substitution - coding silent Lung COSM4851689 CREBBP c.4413C>G p.I1471M Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4716352 POGZ c.4182C>T p.T1394T Substitution - coding silent Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2952794 TET2 c.3888T>C p.N1296N Substitution - coding silent Large_intestine COSM3740083 DNMT3B c.1457A>G p.E486G Substitution - Missense Liver COSM1124804 ZMYM3 c.3130C>T p.L1044F Substitution - Missense Endometrium COSM52929 PBRM1 c.1924_1925ins383 p.S642fs*5 Insertion - Frameshift Breast COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5020791 ARID1A c.5717G>A p.R1906Q Substitution - Missense Skin COSM5731228 ARID1A c.5684delA p.E1895fs*28 Deletion - Frameshift Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4159761 NSD1 c.6903G>C p.G2301G Substitution - coding silent Soft_tissue COSM4669576 CBX6 c.544G>A p.D182N Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3820220 SMARCD2 c.1408C>T p.L470L Substitution - coding silent Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3650677 PRDM14 c.591C>T p.F197F Substitution - coding silent Skin COSM1634389 CHD1 c.5084T>C p.V1695A Substitution - Missense Liver COSM5048152 SRCAP c.2336A>G p.Q779R Substitution - Missense Oesophagus COSM33732 IDH2 c.515G>T p.R172M Substitution - Missense Central_nervous_system COSM4488165 PBRM1 c.3358C>T p.R1120* Substitution - Nonsense Skin COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM260287 CREBBP c.5470G>A p.A1824T Substitution - Missense Large_intestine COSM5492956 KMT2D c.1200C>T p.H400H Substitution - coding silent Biliary_tract COSM1015786 TET2 c.73T>C p.C25R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4603312 EP400 c.8184_8185insCAG p.Q2748_T2749insQ Insertion - In frame Upper_aerodigestive_tract COSM3620782 EYA4 c.91G>A p.E31K Substitution - Missense Skin COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM253321 ASXL1 c.? p.R634fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM4805577 SND1 c.423T>A p.A141A Substitution - coding silent Liver COSM1124901 TAF1 c.3488G>A p.R1163H Substitution - Missense Endometrium COSM1180100 SMC1A c.2096G>A p.R699H Substitution - Missense Prostate COSM1414219 PRDM15 c.3353G>T p.G1118V Substitution - Missense Large_intestine COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM41741 TET2 c.5618T>C p.I1873T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM930220 MEN1 c.461G>A p.S154N Substitution - Missense Endometrium COSM4054832 TP53BP1 c.5051G>A p.R1684H Substitution - Missense Stomach COSM3906590 SMARCA2 c.3894A>G p.E1298E Substitution - coding silent Stomach COSM939963 KMT2D c.15588C>T p.T5196T Substitution - coding silent Endometrium COSM4721054 RERE c.715G>T p.A239S Substitution - Missense Large_intestine COSM4593941 L3MBTL2 c.697G>C p.A233P Substitution - Missense Soft_tissue COSM4460188 TCF20 c.1156C>G p.P386A Substitution - Missense Skin COSM894182 TRIM33 c.2037G>A p.S679S Substitution - coding silent Oesophagus COSM3488254 PRDM16 c.3228C>T p.I1076I Substitution - coding silent Skin COSM5949393 ZBTB33 c.1123A>T p.M375L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Endometrium COSM46425 HNF1A c.132_156del25 p.D45fs*102 Deletion - Frameshift Liver COSM4629041 KDM5C c.3410C>T p.A1137V Substitution - Missense Large_intestine COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM22658 MEN1 c.588_589insA p.T197fs*21 Insertion - Frameshift Parathyroid COSM27977 SMARCB1 c.1130delG p.R377fs*10 Deletion - Frameshift Central_nervous_system COSM28781 KDM6A c.117delC p.S40fs*2 Deletion - Frameshift Large_intestine COSM51441 ARID1A c.5161C>T p.R1721* Substitution - Nonsense Ovary COSM51449 ARID1A c.4997_4997delC p.P1667fs*6 Deletion - Frameshift Ovary COSM85848 MEN1 c.960_960delC p.Y321fs*47 Deletion - Frameshift Pancreas COSM76049 PRDM9 c.101A>G p.Y34C Substitution - Missense Ovary COSM79965 HELLS c.1186T>C p.L396L Substitution - coding silent Ovary COSM75102 KDM2A c.3349C>T p.R1117C Substitution - Missense Ovary COSM87919 SHPRH c.495_496insA p.E166fs*7 Insertion - Frameshift Large_intestine COSM112087 TDG c.286_287insA p.I98fs*6 Insertion - Frameshift Upper_aerodigestive_tract COSM133584 ASXL1 c.3793G>T p.D1265Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM145809 PRDM9 c.827A>T p.Y276F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM216496 DIDO1 c.2647T>C p.L883L Substitution - coding silent Pancreas COSM246762 PRDM11 c.1461G>A p.S487S Substitution - coding silent Prostate COSM231555 DNMT3A c.1598A>G p.Y533C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM255003 KDM6A c.3517T>A p.Y1173N Substitution - Missense Urinary_tract COSM255290 KDM6A c.2966T>A p.L989* Substitution - Nonsense Central_nervous_system COSM255658 KDM6A c.3434G>A p.G1145D Substitution - Missense Central_nervous_system COSM298325 ARID1A c.3978_3980delGCA p.Q1334delQ Deletion - In frame Large_intestine COSM312991 MUM1 c.1455C>A p.D485E Substitution - Missense Soft_tissue COSM307322 ARID1A c.2019delG p.S674fs*68 Deletion - Frameshift Liver COSM352026 BPTF c.6752A>G p.Q2251R Substitution - Missense Lung COSM346996 HCFC2 c.1203A>C p.S401S Substitution - coding silent Lung COSM425094 RBBP5 c.761G>A p.W254* Substitution - Nonsense Breast COSM427758 JMJD1C c.1189C>T p.R397* Substitution - Nonsense Breast COSM435120 SRCAP c.1349A>T p.Q450L Substitution - Missense Breast COSM441204 MBD5 c.3400T>C p.L1134L Substitution - coding silent Breast COSM460183 CHD3 c.3004C>T p.R1002* Substitution - Nonsense Cervix COSM693712 KMT2D c.13900C>T p.R4634* Substitution - Nonsense Central_nervous_system COSM1049786 INTS12 c.850T>A p.S284T Substitution - Missense Endometrium COSM941545 SMARCC2 c.3173C>A p.P1058H Substitution - Missense Endometrium COSM1030665 BRWD1 c.6281G>A p.R2094H Substitution - Missense Endometrium COSM1018621 HDAC4 c.2450C>A p.S817Y Substitution - Missense Endometrium COSM908999 MEAF6 c.239G>T p.R80L Substitution - Missense Endometrium COSM931014 KDM2A c.713C>T p.A238V Substitution - Missense Endometrium COSM910002 DMAP1 c.1323C>T p.G441G Substitution - coding silent Endometrium COSM927117 PHF21A c.677C>T p.T226I Substitution - Missense Endometrium COSM945402 ING1 c.514G>A p.A172T Substitution - Missense Endometrium COSM1000723 EZH2 c.1876G>A p.V626M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1073183 L3MBTL3 c.1781G>A p.R594H Substitution - Missense Endometrium COSM971513 FTO c.1123G>A p.E375K Substitution - Missense Endometrium COSM1125803 BRWD3 c.4959A>T p.K1653N Substitution - Missense Endometrium COSM1116467 FMR1 c.963A>C p.E321D Substitution - Missense Endometrium COSM1087439 SMARCD3 c.424C>T p.R142W Substitution - Missense Endometrium COSM1236441 IDH2 c.1127C>A p.T376K Substitution - Missense Autonomic_ganglia COSM1230649 TRRAP c.3163G>A p.A1055T Substitution - Missense Large_intestine COSM1250488 DNMT1 c.1601C>T p.T534M Substitution - Missense Stomach COSM1184436 BAP1 c.382G>T p.G128* Substitution - Nonsense Salivary_gland COSM1262944 PRDM13 c.540C>T p.G180G Substitution - coding silent Oesophagus COSM1216853 NCOA2 c.842C>T p.T281M Substitution - Missense Large_intestine COSM1186663 SETD7 c.304G>T p.G102W Substitution - Missense Lung COSM1159382 BTAF1 c.628A>G p.N210D Substitution - Missense Pancreas COSM1289714 EP400 c.8181_8182insCAG p.Q2748_T2749insQ Insertion - In frame Skin COSM1429842 GABRG1 c.238C>T p.R80C Substitution - Missense Large_intestine COSM1414085 BRWD1 c.4664C>T p.S1555F Substitution - Missense Large_intestine COSM1420706 TBL1XR1 c.377delA p.N126fs*16 Deletion - Frameshift Large_intestine COSM1357128 RSF1 c.1053C>T p.I351I Substitution - coding silent Large_intestine COSM1486703 PRDM9 c.2126C>G p.T709S Substitution - Missense Upper_aerodigestive_tract COSM1609406 CHD9 c.969G>T p.Q323H Substitution - Missense Liver COSM1617879 PBRM1 c.2568-2A>C p.? Unknown Liver COSM1622308 SND1 c.65G>T p.G22V Substitution - Missense Liver COSM1685690 ARID2 c.4463_4475del13 p.D1488fs*24 Deletion - Frameshift Skin COSM1704306 SUV420H1 c.2558C>T p.P853L Substitution - Missense Skin COSM1720599 SUZ12 c.161_163delCCT p.S59delS Deletion - In frame Skin COSM1709759 CHD3 c.2467C>T p.R823W Substitution - Missense Skin COSM1703703 PRMT3 c.335C>T p.P112L Substitution - Missense Skin COSM1666583 BAP1 c.655delG p.A219fs*12 Deletion - Frameshift Eye COSM1737356 MBD2 c.817C>T p.R273* Substitution - Nonsense Central_nervous_system COSM1744279 RNF17 c.58A>C p.R20R Substitution - coding silent Biliary_tract COSM1936478 BAZ2A_ENST00000379441 c.4512G>A p.W1504* Substitution - Nonsense Large_intestine COSM2007092 KMT2D c.6308C>T p.S2103F Substitution - Missense Prostate COSM2029974 CHD8 c.5998C>T p.R2000C Substitution - Missense Large_intestine COSM2150889 SMEK2 c.1986G>A p.K662K Substitution - coding silent Central_nervous_system COSM2230143 PRDM2 c.3813G>A p.T1271T Substitution - coding silent Large_intestine COSM2813497 SMARCA4 c.517A>C p.N173H Substitution - Missense Large_intestine COSM2889266 ASXL1 c.1881G>A p.A627A Substitution - coding silent Large_intestine COSM2909148 HDAC4 c.1318G>A p.A440T Substitution - Missense Stomach COSM2965461 KDM6A c.3687G>A p.Q1229Q Substitution - coding silent Upper_aerodigestive_tract COSM3203708 MECOM c.612C>T p.C204C Substitution - coding silent Upper_aerodigestive_tract COSM3237310 KDM3B c.2171G>A p.R724H Substitution - Missense Stomach COSM3357600 SMEK2 c.721T>A p.F241I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3407734 HDAC4 c.935C>T p.A312V Substitution - Missense Central_nervous_system COSM3493327 BRDT c.1134T>A p.I378I Substitution - coding silent Skin COSM3662942 TRIM24 c.1995G>A p.V665V Substitution - coding silent Biliary_tract COSM3660880 PHF17 c.516G>A p.E172E Substitution - coding silent Liver COSM3647909 ELP3 c.795G>A p.K265K Substitution - coding silent Skin COSM3706555 MGA c.2606A>G p.D869G Substitution - Missense Liver COSM3749088 PWWP2B c.1032G>A p.E344E Substitution - coding silent Thyroid COSM3859835 JARID2 c.1856G>A p.R619Q Substitution - Missense Stomach COSM3820333 BPTF c.4824C>A p.G1608G Substitution - coding silent Breast COSM3891709 BRD4 c.283C>T p.P95S Substitution - Missense Skin COSM3948543 CREBBP c.799-10T>A p.? Unknown Ovary COSM3973946 ATRX c.663-2A>G p.? Unknown Central_nervous_system COSM3970416 KDM6B c.3299C>A p.P1100H Substitution - Missense Central_nervous_system COSM3982557 CHD7 c.2831G>A p.R944H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4006947 CHD7 c.3525G>A p.V1175V Substitution - coding silent Urinary_tract COSM4040284 EP400 c.7261C>T p.H2421Y Substitution - Missense Stomach COSM4119066 BAP1 c.295G>A p.V99M Substitution - Missense Stomach COSM4129608 NCOR1 c.571G>A p.E191K Substitution - Missense Upper_aerodigestive_tract COSM4141859 PRMT7 c.1073G>A p.R358K Substitution - Missense Ovary COSM4169940 DNMT3A c.2183G>A p.G728D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4291203 ASXL1 c.2126C>T p.A709V Substitution - Missense Oesophagus COSM4383562 DNMT3A c.1640T>G p.L547R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4603241 KDM6B c.761_762insACCACC p.P264_L265insPP Insertion - In frame Upper_aerodigestive_tract COSM4598409 AKAP1 c.988A>G p.S330G Substitution - Missense Upper_aerodigestive_tract COSM4426653 PRDM1 c.114T>A p.G38G Substitution - coding silent Oesophagus COSM4573042 KMT2D c.8640T>C p.L2880L Substitution - coding silent Skin COSM4507021 HDAC11 c.735C>T p.S245S Substitution - coding silent Skin COSM4665992 BPTF c.1570C>T p.R524C Substitution - Missense Large_intestine COSM4717482 PRDM15 c.1621G>A p.G541S Substitution - Missense Large_intestine COSM4666079 BRD1 c.1703C>T p.T568M Substitution - Missense Large_intestine COSM4731949 TAF1 c.4115A>C p.K1372T Substitution - Missense Large_intestine COSM4672067 CHD6 c.6125A>G p.Q2042R Substitution - Missense Large_intestine COSM4723976 SCML2 c.1446A>C p.K482N Substitution - Missense Large_intestine COSM4662504 APOBEC1 c.111T>C p.C37C Substitution - coding silent Large_intestine COSM4681598 ERCC6 c.1861T>C p.L621L Substitution - coding silent Large_intestine COSM4609839 PHF2 c.3283delC p.L1095fs*>2 Deletion - Frameshift Adrenal_gland COSM4759862 PRDM1 c.1733A>C p.Q578P Substitution - Missense Stomach COSM4790984 ACTR8 c.461A>G p.N154S Substitution - Missense Liver COSM4917655 CREBBP c.6657C>A p.A2219A Substitution - coding silent Liver COSM4913993 KDM2B c.2424C>A p.S808R Substitution - Missense Liver COSM4929896 CHD2 c.2181G>C p.Q727H Substitution - Missense Liver COSM4847947 KDM6B c.982C>T p.R328W Substitution - Missense Cervix COSM5006868 PHF21A c.708A>C p.R236R Substitution - coding silent Large_intestine COSM5053137 LBR c.607C>T p.R203W Substitution - Missense Stomach COSM5056165 DNMT1 c.2931C>T p.S977S Substitution - coding silent Stomach COSM5046963 KMT2C c.14053G>C p.E4685Q Substitution - Missense Oesophagus COSM5369075 BAZ1B c.2830C>T p.H944Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5396452 SP140 c.353T>C p.I118T Substitution - Missense Skin COSM5375643 BAZ2A c.5487G>A p.R1829R Substitution - coding silent Skin COSM5513791 HDAC6 c.1737A>G p.A579A Substitution - coding silent Biliary_tract COSM5468962 BAHCC1 c.5796+1G>T p.? Unknown Large_intestine COSM5485699 KDM4A c.2908G>A p.G970S Substitution - Missense Large_intestine COSM5451336 RAD54L c.350C>T p.A117V Substitution - Missense Large_intestine COSM5432838 NCOA2 c.1463C>T p.P488L Substitution - Missense Oesophagus COSM5440984 EYA1 c.1675G>C p.E559Q Substitution - Missense Oesophagus COSM5623993 CHD1 c.5045G>A p.R1682K Substitution - Missense Oesophagus COSM5606738 KMT2D c.5238C>A p.S1746S Substitution - coding silent Skin COSM5683541 EP400 c.8585A>T p.Q2862L Substitution - Missense Soft_tissue COSM5662046 EZH2 c.554A>G p.D185G Substitution - Missense Soft_tissue COSM5703914 PRDM10 c.2788T>C p.S930P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5708584 TBL1XR1 c.931G>C p.A311P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5708603 TBL1XR1 c.424_425insTA p.A142fs*8 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5558201 TAF1L c.184A>T p.K62* Substitution - Nonsense Prostate COSM5550032 DNMT1 c.1487C>T p.A496V Substitution - Missense Prostate COSM5935476 EHMT1 c.2287C>T p.Q763* Substitution - Nonsense Skin COSM5978300 DNMT3A c.816G>C p.K272N Substitution - Missense Upper_aerodigestive_tract COSM5970789 MBD6 c.1154G>A p.R385K Substitution - Missense Upper_aerodigestive_tract COSM5985330 ARID2 c.2939C>G p.T980S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5990191 HNF1A c.99_105delGGGGCCC p.G34fs*119 Deletion - Frameshift Liver COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM43409 TET2 c.? p.?fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM1716177 EZH2 c.? p.Y646H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM256008 PHF6 c.1_1098del1098 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM5945747 SETD2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1107184 EHMT1 c.3003G>T p.E1001D Substitution - Missense Endometrium COSM3727849 TRIM66 c.1888C>G p.L630V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1698984 TRRAP c.7846C>T p.P2616S Substitution - Missense Skin COSM5914302 NCOA6 c.3563C>T p.S1188F Substitution - Missense Skin COSM1045449 SETD2 c.3968G>A p.R1323H Substitution - Missense Endometrium COSM4643256 MYST3 c.5407A>T p.T1803S Substitution - Missense Large_intestine COSM21481 HNF1A c.872_873insC p.G292fs*25 Insertion - Frameshift Liver COSM1122155 SUV39H1 c.771C>T p.G257G Substitution - coding silent Endometrium COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM353605 CHD7 c.7672C>T p.P2558S Substitution - Missense Lung COSM3127203 PRMT10 c.386A>C p.K129T Substitution - Missense Large_intestine COSM1436257 NSD1 c.1319G>A p.R440Q Substitution - Missense Large_intestine COSM86976 IKZF1 c.1-?_40+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4725919 SHPRH c.500C>T p.P167L Substitution - Missense Large_intestine COSM5713242 TDRD3 c.938_940delATA p.N315delN Deletion - In frame Central_nervous_system COSM4508435 PRMT2 c.775C>T p.R259C Substitution - Missense Skin COSM53041 EZH2 c.2195+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM895022 PRDM2 c.4183C>T p.R1395* Substitution - Nonsense Endometrium COSM1718671 DNMT3B c.2051C>T p.P684L Substitution - Missense Skin COSM5414706 NCOA3 c.1473G>T p.K491N Substitution - Missense Breast COSM4791497 SFMBT2 c.1324C>G p.L442V Substitution - Missense Liver COSM4672064 CHD6 c.7894A>G p.M2632V Substitution - Missense Large_intestine COSM1250607 DPF1 c.701T>A p.L234Q Substitution - Missense Oesophagus COSM4992308 NSD1 c.7568C>T p.S2523L Substitution - Missense Skin COSM126825 NCOR1 c.2125C>T p.Q709* Substitution - Nonsense Biliary_tract COSM1220379 PHF3 c.1556G>A p.S519N Substitution - Missense Large_intestine COSM41644 TET2 c.1648C>T p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM458084 ATRX c.740A>G p.N247S Substitution - Missense Breast COSM251395 ARID2 c.1716-2A>G p.? Unknown Liver COSM277633 TDRD1 c.2065G>T p.E689* Substitution - Nonsense Large_intestine COSM3963952 SETD4 c.490G>A p.A164T Substitution - Missense Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM2768710 SND1 c.1288G>A p.E430K Substitution - Missense Large_intestine COSM1666620 ARID1A c.? p.K2159* Substitution - Nonsense Ovary COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM425269 SMYD2 c.381A>G p.K127K Substitution - coding silent Breast COSM1118766 SCML2 c.441G>T p.K147N Substitution - Missense Endometrium COSM4111166 ATRX c.778A>C p.N260H Substitution - Missense Stomach COSM3992493 KDM6A c.1577G>A p.G526E Substitution - Missense Kidney COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Biliary_tract COSM1711829 SMARCA4 c.2620C>T p.R874C Substitution - Missense Central_nervous_system COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3639804 ACTB c.99C>T p.S33S Substitution - coding silent Skin COSM133131 DNMT3A c.2254T>C p.F752L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM254550 ARID1A c.4477C>T p.Q1493* Substitution - Nonsense Urinary_tract COSM3443973 KMT2A c.5322C>T p.S1774S Substitution - coding silent Skin COSM1067094 PRDM9 c.2496T>C p.Y832Y Substitution - coding silent Large_intestine COSM282694 MBD5 c.4028A>G p.K1343R Substitution - Missense Large_intestine COSM5400250 TET2 c.257C>T p.S86F Substitution - Missense Skin COSM5976917 EYA1 c.340T>C p.F114L Substitution - Missense Upper_aerodigestive_tract COSM481150 WHSC1 c.2374T>C p.Y792H Substitution - Missense Kidney COSM5621266 KMT2D c.5066G>A p.G1689E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1725001 DNMT3A c.985delA p.M329fs*16 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3731467 DIDO1 c.3102-1G>T p.? Unknown Stomach COSM4170143 TET2 c.3390delC p.P1131fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3817960 CREBBP c.6803T>C p.M2268T Substitution - Missense Breast COSM3708428 SMARCA1 c.530-4C>T p.? Unknown Liver COSM3523221 KDM6B c.4533C>T p.I1511I Substitution - coding silent Skin COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM150428 KMT2C c.2958A>G p.P986P Substitution - coding silent Soft_tissue COSM5407039 KMT2C c.12654C>T p.T4218T Substitution - coding silent Skin COSM5889395 DIDO1 c.3185A>C p.N1062T Substitution - Missense Skin COSM3861869 EHMT2 c.2448+1G>A p.? Unknown Stomach COSM4568577 ZCWPW1 c.1217T>A p.M406K Substitution - Missense Skin COSM1291512 MSH6 c.4000C>T p.R1334W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1682090 PRMT2 c.301G>T p.E101* Substitution - Nonsense Large_intestine COSM51863 ARID1A c.3059G>A p.R1020K Substitution - Missense Kidney COSM4651967 LMNA c.1975C>T p.Q659* Substitution - Nonsense Large_intestine COSM3422494 BRD4 c.1919G>A p.R640Q Substitution - Missense Large_intestine COSM4960296 TCF20 c.1356G>A p.G452G Substitution - coding silent Liver COSM4104443 EP300 c.6880C>A p.L2294I Substitution - Missense Stomach COSM5068821 SMARCC2 c.1866A>C p.K622N Substitution - Missense Large_intestine COSM4820158 SP140_ENST00000392045 c.1286C>T p.S429L Substitution - Missense Cervix COSM51450 ARID1A c.6139G>T p.E2047* Substitution - Nonsense Endometrium COSM2802859 CHD3 c.474G>A p.T158T Substitution - coding silent Large_intestine COSM1123279 PHF8 c.489C>A p.T163T Substitution - coding silent Endometrium COSM5785541 EPC1 c.556C>G p.R186G Substitution - Missense Breast COSM2188328 TP53BP1 c.1440G>A p.M480I Substitution - Missense Stomach COSM1080958 PHF3 c.3945T>G p.P1315P Substitution - coding silent Endometrium COSM144608 KMT2D c.4897C>T p.R1633* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM382824 NCOR1 c.2332G>A p.E778K Substitution - Missense Lung COSM463167 HDGF c.453A>G p.K151K Substitution - coding silent Kidney COSM443637 ASXL1 c.2709G>T p.S903S Substitution - coding silent Breast COSM3557682 SMARCA1 c.719C>A p.P240Q Substitution - Missense Skin COSM937499 ATF7IP c.1593T>C p.P531P Substitution - coding silent Endometrium COSM1237863 NCOR1 c.5603A>T p.Q1868L Substitution - Missense Thyroid COSM4671947 CHD1 c.1339A>C p.K447Q Substitution - Missense Large_intestine COSM3393004 PRDM8 c.353G>A p.R118H Substitution - Missense Pancreas COSM4885372 PHF2 c.2209G>T p.G737C Substitution - Missense Upper_aerodigestive_tract COSM2996465 PRMT7 c.261C>A p.A87A Substitution - coding silent Large_intestine COSM5051458 EP400 c.3594G>A p.A1198A Substitution - coding silent Stomach COSM5007710 L3MBTL4 c.729T>G p.Y243* Substitution - Nonsense Large_intestine COSM4131185 SMARCA4 c.1524T>C p.H508H Substitution - coding silent Soft_tissue COSM1176892 KDM3A c.277A>C p.N93H Substitution - Missense Endometrium COSM4588413 PHF19 c.422C>T p.T141I Substitution - Missense Bone COSM4902204 MBD3 c.765C>T p.A255A Substitution - coding silent Skin COSM4837446 BAHCC1 c.2564C>A p.S855Y Substitution - Missense Cervix COSM3394126 PHF1 c.5C>T p.A2V Substitution - Missense Pancreas COSM740282 ARID1B c.4197G>A p.R1399R Substitution - coding silent Lung COSM255144 MEN1 c.1245_1245delA p.F416fs*29 Deletion - Frameshift Parathyroid COSM5365795 CHD6 c.6983_6984delAC p.H2328fs*2 Deletion - Frameshift Large_intestine COSM302775 NSD1 c.5910G>C p.E1970D Substitution - Missense Central_nervous_system COSM4990132 KMT2A c.7411C>T p.P2471S Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4571143 SETD5_ENST00000402198 c.3897T>A p.Y1299* Substitution - Nonsense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3698150 SND1 c.1616G>A p.R539H Substitution - Missense Large_intestine COSM686163 KMT2A c.9387C>G p.L3129L Substitution - coding silent Lung COSM745885 KMT2C c.10355C>T p.P3452L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1007244 EPC2 c.520G>T p.V174L Substitution - Missense Endometrium COSM1193069 PHF23 c.482_483insC p.A162fs*70 Insertion - Frameshift Lung COSM4959017 ZMYM4 c.1708G>A p.V570I Substitution - Missense Liver COSM4799044 SHPRH c.2363A>G p.N788S Substitution - Missense Liver COSM4384155 MLL5 c.1490A>T p.D497V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4913661 ZMYM2 c.60G>A p.G20G Substitution - coding silent Liver COSM1296224 ARID1A c.3598C>T p.Q1200* Substitution - Nonsense Stomach COSM2036428 PHRF1 c.1187C>T p.T396M Substitution - Missense Large_intestine COSM4004435 STK31 c.1229G>A p.G410E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3567462 MBD5 c.3792C>T p.F1264F Substitution - coding silent Skin COSM5948098 KMT2D c.8739C>T p.A2913A Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3711480 PRMT5 c.20G>T p.G7V Substitution - Missense Upper_aerodigestive_tract COSM5909495 CREBBP c.1655C>T p.P552L Substitution - Missense Skin COSM1473881 PHC2 c.1862C>T p.S621L Substitution - Missense Breast COSM4475515 MTA2 c.1996C>T p.L666L Substitution - coding silent Skin COSM3362639 SMARCA4 c.4112C>A p.S1371Y Substitution - Missense Kidney COSM1351665 KMT2A c.10067C>T p.A3356V Substitution - Missense Large_intestine COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM1173378 ATAD2 c.3869-1G>C p.? Unknown Oesophagus COSM4938516 HDAC9 c.1195C>T p.L399L Substitution - coding silent Liver COSM2772206 TAF1L c.4093C>T p.P1365S Substitution - Missense Skin COSM3987081 BAZ2A_ENST00000379441 c.1039A>T p.N347Y Substitution - Missense Kidney COSM4169611 MSH6 c.? p.E1193K Substitution - Missense Central_nervous_system COSM1684721 SETBP1 c.? p.T873R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM956537 ARID4A c.2584C>T p.Q862* Substitution - Nonsense Endometrium COSM5724500 PRMT3 c.1044G>A p.K348K Substitution - coding silent Skin COSM3358514 PBRM1 c.2927delA p.H976fs*38 Deletion - Frameshift Kidney COSM4732001 TAF3 c.1554C>T p.S518S Substitution - coding silent Large_intestine COSM41293 IDH1 c.? p.R132S Substitution - Missense Bone COSM266462 EP400 c.7016C>T p.A2339V Substitution - Missense Large_intestine COSM1476843 CHD4 c.703G>C p.A235P Substitution - Missense Breast COSM913368 MTF2 c.1045C>T p.R349C Substitution - Missense Endometrium COSM436258 PHF12 c.1250T>C p.L417P Substitution - Missense Breast COSM3941776 TDRD6 c.4235C>G p.P1412R Substitution - Missense Oesophagus COSM5797116 ACTB c.366C>T p.I122I Substitution - coding silent Breast COSM1566043 AIRE c.105C>T p.H35H Substitution - coding silent Large_intestine COSM483192 CHD1 c.4153T>G p.S1385A Substitution - Missense Kidney COSM3660856 PRDM5 c.1113C>A p.S371R Substitution - Missense Liver COSM983354 BPTF c.7934T>C p.L2645P Substitution - Missense Endometrium COSM4497789 TP53BP1 c.5035C>T p.P1679S Substitution - Missense Skin COSM442598 ATAD2B_ENST00000238789 c.2740C>G p.Q914E Substitution - Missense Oesophagus COSM22021 NCOA7 c.2412G>A p.W804* Substitution - Nonsense Lung COSM4639192 JARID2 c.1348G>A p.A450T Substitution - Missense Large_intestine COSM87161 TET2 c.4138C>T p.H1380Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5900715 BRD9 c.667C>T p.P223S Substitution - Missense Skin COSM5931665 HDAC3 c.908T>C p.V303A Substitution - Missense Skin COSM4187428 PHF15 c.1981G>T p.A661S Substitution - Missense Kidney COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4466823 BAZ2A c.1562C>T p.P521L Substitution - Missense Skin COSM3737265 CHD8 c.3450T>A p.H1150Q Substitution - Missense Soft_tissue COSM52838 PBRM1 c.3553C>T p.R1185* Substitution - Nonsense Kidney COSM3153084 EP300 c.871delA p.K292fs*25 Deletion - Frameshift Large_intestine COSM5933994 CHD6 c.7318C>T p.R2440C Substitution - Missense Skin COSM313086 MYST3 c.473G>A p.G158D Substitution - Missense Lung COSM300189 JARID2 c.837G>A p.S279S Substitution - coding silent Large_intestine COSM325251 ELP3 c.658A>G p.I220V Substitution - Missense Lung COSM5702531 BAP1 c.272_286del15 p.C91_A95del Deletion - In frame Eye COSM352037 SETBP1 c.202G>T p.D68Y Substitution - Missense Lung COSM2006637 KMT2D c.14653_14656delGTCT p.V4885fs*7 Deletion - Frameshift Oesophagus COSM1186267 SETD2 c.3937G>T p.E1313* Substitution - Nonsense Lung COSM4059654 GTF3C1 c.3306G>T p.E1102D Substitution - Missense Stomach COSM4004166 ZCWPW1 c.740T>G p.I247R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1088630 STK31 c.1141G>A p.D381N Substitution - Missense Breast COSM5407256 STK31 c.2682G>A p.L894L Substitution - coding silent Skin COSM233750 VPS72 c.884C>T p.T295I Substitution - Missense Skin COSM221609 TET2 c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4842384 PRDM15 c.3847G>A p.E1283K Substitution - Missense Cervix COSM5519839 MSL3 c.355G>A p.E119K Substitution - Missense Biliary_tract COSM903693 SMYD2 c.699_700insGAG p.E235_V236insE Insertion - In frame Endometrium COSM929213 PHRF1 c.1120C>T p.R374* Substitution - Nonsense Breast COSM1216849 NCOA1 c.898T>G p.F300V Substitution - Missense Large_intestine COSM5619989 INTS12 c.572A>C p.H191P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3813410 ING1 c.259G>A p.E87K Substitution - Missense Large_intestine COSM3471580 TRIM33 c.1114G>T p.E372* Substitution - Nonsense Skin COSM51417 ARID1A c.4201C>T p.Q1401* Substitution - Nonsense Skin COSM4972093 ARID1B c.748G>A p.G250S Substitution - Missense Thyroid COSM1131647 KMT2C c.2755G>C p.V919L Substitution - Missense Soft_tissue COSM252474 DIDO1 c.1358C>T p.P453L Substitution - Missense Skin COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5985146 DNMT3A c.2640G>T p.M880I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM311722 HDAC4 c.2577C>T p.Y859Y Substitution - coding silent Soft_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3531612 DOT1L c.3813C>T p.S1271S Substitution - coding silent Skin COSM3690382 INOC1 c.46C>T p.L16L Substitution - coding silent Large_intestine COSM4788275 KDM4C c.754T>C p.L252L Substitution - coding silent Liver COSM5725536 RTF1 c.1611C>T p.H537H Substitution - coding silent Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM269720 NIPBL c.1981T>C p.C661R Substitution - Missense Large_intestine COSM1106292 GTF3C4 c.522C>T p.C174C Substitution - coding silent Endometrium COSM938870 PRMT8 c.709C>T p.H237Y Substitution - Missense Skin COSM5825559 ARID1A c.4758C>T p.S1586S Substitution - coding silent Pancreas COSM5611052 TRRAP c.9948G>A p.A3316A Substitution - coding silent Skin COSM4468152 PHC3 c.1436C>T p.P479L Substitution - Missense Skin COSM5423151 TDRD5 c.1370C>T p.P457L Substitution - Missense Prostate COSM5474867 NCOA7 c.2270G>A p.R757H Substitution - Missense Large_intestine COSM5760279 GATAD2B c.501G>C p.K167N Substitution - Missense Bone COSM5025144 BAP1 c.1997_1997delG p.R666fs*26 Deletion - Frameshift Eye COSM4035253 MEN1 c.1410G>A p.P470P Substitution - coding silent Stomach COSM1179669 KMT2C c.943G>A p.G315S Substitution - Missense Central_nervous_system COSM1474592 EPC1 c.587_588delAA p.Q196fs*10 Deletion - Frameshift Breast COSM3707844 ADNP c.513T>G p.T171T Substitution - coding silent Liver COSM4877494 SMARCC2 c.636C>T p.Y212Y Substitution - coding silent Prostate COSM4012979 SUV39H2 c.125C>A p.S42Y Substitution - Missense Stomach COSM5446500 NCOA2 c.3874_3875delCC p.Q1293fs*19 Deletion - Frameshift Thyroid COSM5944481 DNMT3A c.1340_1341insC p.Y448fs*25 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1166319 TDRD5 c.301C>T p.R101* Substitution - Nonsense Large_intestine COSM178433 AP001011.3_ENST00000320876 c.4136C>T p.A1379V Substitution - Missense Large_intestine COSM723120 ASXL1 c.3350C>T p.P1117L Substitution - Missense Lung COSM4681223 EPC2 c.1235G>T p.R412L Substitution - Missense Large_intestine COSM3463563 BAZ2A c.191C>T p.S64F Substitution - Missense Skin COSM3627957 TDRD6 c.3491G>A p.R1164K Substitution - Missense Skin COSM1009566 HAT1 c.975G>T p.K325N Substitution - Missense Endometrium COSM3953224 UHRF2 c.100G>A p.A34T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1030936 PRDM15 c.3642C>T p.H1214H Substitution - coding silent Biliary_tract COSM405183 PRDM12 c.570+1_570+2delGT p.? Unknown Large_intestine COSM704681 CDYL2 c.227A>C p.K76T Substitution - Missense Lung COSM4702518 KMT2C c.1006G>A p.E336K Substitution - Missense Large_intestine COSM1378075 GLYR1 c.1140delG p.R381fs*20 Deletion - Frameshift Large_intestine COSM285215 SMCHD1 c.2096C>A p.S699Y Substitution - Missense Large_intestine COSM224735 INOC1 c.2448T>G p.C816W Substitution - Missense Skin COSM1680361 MBD1 c.1075A>G p.K359E Substitution - Missense Large_intestine COSM3838798 SP110 c.1579G>A p.E527K Substitution - Missense Breast COSM139726 MLL5 c.1334C>T p.A445V Substitution - Missense Skin COSM4789783 PHF8 c.2703G>A p.K901K Substitution - coding silent Liver COSM4167502 SMARCA4 c.1756_1758delAAG p.K588delK Deletion - In frame Adrenal_gland COSM4478256 SUV420H1 c.2222C>T p.S741F Substitution - Missense Skin COSM196959 BRWD3 c.3976C>T p.R1326* Substitution - Nonsense Large_intestine COSM2950010 BRPF1 c.1280G>A p.R427Q Substitution - Missense Large_intestine COSM251420 ARID1A c.487G>A p.A163T Substitution - Missense Liver COSM4567011 TCF20 c.5350_5351CC>TT p.P1784F Substitution - Missense Skin COSM4929696 SIRT3 c.724T>G p.S242A Substitution - Missense Liver COSM3521225 BPTF c.8654C>T p.S2885F Substitution - Missense Skin COSM1363033 SMARCC2 c.3523G>A p.A1175T Substitution - Missense Large_intestine COSM3862679 TDRKH c.1570C>T p.L524F Substitution - Missense Skin COSM5345999 KDM6A c.1142G>T p.S381I Substitution - Missense Large_intestine COSM43407 SETD2 c.2637T>C p.A879A Substitution - coding silent Kidney COSM1416614 TCF20 c.5826delC p.L1943fs*>18 Deletion - Frameshift Large_intestine COSM392336 ASH1L c.8683_8684insA p.T2895fs*5 Insertion - Frameshift Lung COSM4424156 BAZ2B c.6098T>C p.L2033P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5993902 BAZ2B c.909A>G p.L303L Substitution - coding silent Prostate COSM100054 TET2 c.3954+2T>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM250090 EZH2 c.? p.Q570fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM3869124 RAG2 c.1506G>A p.M502I Substitution - Missense Skin COSM179613 KDM4C c.658C>T p.R220* Substitution - Nonsense Large_intestine COSM124054 L3MBTL2 c.169G>A p.E57K Substitution - Missense Cervix COSM4990260 KMT2D c.6197delC p.S2066fs*3 Deletion - Frameshift Skin COSM37029 EZH2 c.1937A>C p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3405184 ADNP c.2275C>A p.H759N Substitution - Missense Central_nervous_system COSM3953067 ZMYND8 c.2800-3C>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1716659 ATRX c.2363C>G p.S788* Substitution - Nonsense Central_nervous_system COSM1577228 MEN1 c.527_539del13 p.A176fs*5 Deletion - Frameshift Parathyroid COSM4168126 TDRD6 c.2255T>C p.M752T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1730876 BRWD3 c.4349A>C p.K1450T Substitution - Missense Liver COSM5708576 TBL1XR1 c.1106A>G p.D369G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1737115 PHF3 c.1906G>T p.A636S Substitution - Missense Central_nervous_system COSM4429970 MECP2 c.1279G>A p.D427N Substitution - Missense Oesophagus COSM5024940 EP300 c.6255C>G p.I2085M Substitution - Missense Breast COSM3928095 EYA4 c.438-2A>T p.? Unknown Central_nervous_system COSM1079886 TDRD6 c.1719C>T p.G573G Substitution - coding silent Endometrium COSM1372824 MGA c.4829C>T p.T1610I Substitution - Missense Large_intestine COSM1737676 TAF1L c.4526G>A p.R1509H Substitution - Missense Central_nervous_system COSM3718130 MBD3 c.381G>A p.P127P Substitution - coding silent Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM980864 MYST2 c.1392G>T p.K464N Substitution - Missense Endometrium COSM4713928 PHF14 c.1523_1524insA p.N510fs*10 Insertion - Frameshift Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM345413 RUVBL1 c.556G>T p.E186* Substitution - Nonsense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5650700 PHF8 c.257C>T p.T86M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1716176 EZH2 c.? p.Y646C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5554053 ARID1A c.6307T>C p.F2103L Substitution - Missense Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1342099 ZMYM6 c.2412delT p.F804fs*6 Deletion - Frameshift Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM3749492 DOT1L c.4156G>A p.G1386S Substitution - Missense Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5963754 PHRF1 c.345C>T p.F115F Substitution - coding silent Breast COSM99740 DNMT3A c.2645G>C p.R882P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1172714 NCOA6 c.3194C>T p.S1065F Substitution - Missense Skin COSM1075252 JARID2 c.2657C>T p.S886L Substitution - Missense Endometrium COSM4166791 SMARCC2 c.2007G>A p.S669S Substitution - coding silent Pituitary COSM1015786 TET2 c.73T>C p.C25R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4385078 ASXL1 c.1900A>CGGAG p.E635fs*24 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM241480 RSF1 c.3607_3608insGGCGAA p.R1206_S1207insRR Insertion - In frame Prostate COSM5788972 HDGF c.617C>G p.S206C Substitution - Missense Breast COSM1130729 KDM3A c.2143C>T p.H715Y Substitution - Missense Prostate COSM341556 KIAA2026_ENST00000399933 c.1064G>C p.R355T Substitution - Missense Lung COSM1617697 DHX30 c.2561T>C p.L854S Substitution - Missense Liver COSM2855512 PHF10 c.624C>T p.D208D Substitution - coding silent Large_intestine COSM5504402 AP001011.3_ENST00000320876 c.967G>T p.V323F Substitution - Missense Biliary_tract COSM126101 SETBP1 c.3056G>A p.R1019H Substitution - Missense Upper_aerodigestive_tract COSM5605803 KDM4C c.2180C>T p.A727V Substitution - Missense Skin COSM132968 ASXL1 c.? p.E635fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM4433749 SMYD2 c.903C>A p.V301V Substitution - coding silent Oesophagus COSM1701033 TAF1L c.3709G>C p.E1237Q Substitution - Missense Skin COSM1733347 PRMT10 c.847-3delT p.? Unknown Large_intestine COSM4104440 EP300 c.6413C>T p.A2138V Substitution - Missense Stomach COSM422764 PBRM1 c.892C>T p.R298* Substitution - Nonsense Kidney COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM30579 SMARCA4 c.3557C>T p.A1186V Substitution - Missense Large_intestine COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Endometrium COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM29383 SMARCB1 c.546_547insCATCTCAG p.P183fs*29 Insertion - Frameshift Central_nervous_system COSM85911 IKZF1 c.161-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51386 SMARCB1 c.566_567ins19 p.L191fs*26 Insertion - Frameshift Central_nervous_system COSM51441 ARID1A c.5161C>T p.R1721* Substitution - Nonsense Liver COSM51543 IDH1 c.392_396GTCGT>TCCTG p.G131_R132>VL Complex - compound substitution Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM88737 CREBBP c.4305T>A p.D1435E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87107 TET2 c.2604T>G p.F868L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM88758 CREBBP c.694C>T p.Q232* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM96413 CREBBP c.2678C>T p.S893L Substitution - Missense Lung COSM133570 ASXL1 c.1793_1794TC>A p.I598fs*105 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM137286 PHF6 c.811G>A p.E271K Substitution - Missense Skin COSM221064 KMT2D c.14479C>T p.R4827* Substitution - Nonsense Oesophagus COSM134109 CDYL c.1739C>T p.S580L Substitution - Missense Skin COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Central_nervous_system COSM149915 BRD8 c.3684G>A p.V1228V Substitution - coding silent Stomach COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Prostate COSM238859 ASH1L c.754_755insATTT p.I254fs*16 Insertion - Frameshift Prostate COSM254906 PRMT5 c.955C>G p.L319V Substitution - Missense Urinary_tract COSM255010 KDM6A c.2897C>G p.P966R Substitution - Missense Urinary_tract COSM253678 BPTF c.6673A>C p.T2225P Substitution - Missense Urinary_tract COSM282817 KMT2A c.10727C>T p.S3576F Substitution - Missense Large_intestine COSM279208 BRPF1 c.2600C>T p.A867V Substitution - Missense Large_intestine COSM297068 PHF2 c.2961C>A p.T987T Substitution - coding silent Upper_aerodigestive_tract COSM313089 KAT6B c.5471C>G p.T1824S Substitution - Missense Lung COSM315158 SHPRH c.2415delG p.S806fs*4 Deletion - Frameshift Soft_tissue COSM327313 PHF6 c.346C>T p.R116* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM374411 NCOA6 c.1034A>G p.K345R Substitution - Missense Lung COSM389246 SETBP1 c.2338T>G p.S780A Substitution - Missense Lung COSM383937 SMARCA4 c.4936G>A p.E1646K Substitution - Missense Lung COSM391343 PHF21B c.1489_1490delGT p.V497fs*6 Deletion - Frameshift Lung COSM445164 HDAC10 c.336G>A p.Q112Q Substitution - coding silent Breast COSM441295 BAZ2B c.6352C>T p.Q2118* Substitution - Nonsense Breast COSM972494 CTCF c.1544G>A p.R515H Substitution - Missense Endometrium COSM4897065 KDM4B c.471C>T p.I157I Substitution - coding silent Skin COSM915006 TDRD1 c.37A>C p.N13H Substitution - Missense Endometrium COSM966714 CHD2 c.3640G>A p.G1214R Substitution - Missense Endometrium COSM675113 TTF2 c.2441A>G p.K814R Substitution - Missense Lung COSM1049757 TET2 c.3045C>T p.S1015S Substitution - coding silent Liver COSM758304 BRWD3 c.1939C>G p.L647V Substitution - Missense Lung COSM700499 TP53BP1 c.860G>T p.S287I Substitution - Missense Lung COSM924943 PRDM10 c.2964G>A p.S988S Substitution - coding silent Endometrium COSM1115439 PHF6 c.954A>G p.S318S Substitution - coding silent Endometrium COSM1125832 BRWD3 c.3610T>C p.S1204P Substitution - Missense Endometrium COSM1117699 HCFC1 c.5626T>C p.Y1876H Substitution - Missense Endometrium COSM1084037 PHF14 c.110C>A p.S37* Substitution - Nonsense Endometrium COSM1236450 JARID2 c.246G>T p.K82N Substitution - Missense Autonomic_ganglia COSM1249366 CTCF c.19G>A p.E7K Substitution - Missense Large_intestine COSM1203598 DIDO1 c.4172A>G p.Y1391C Substitution - Missense Large_intestine COSM1162748 BRD9 c.928A>T p.M310L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1184372 KMT2C c.12416G>A p.R4139Q Substitution - Missense Large_intestine COSM1161037 SIRT4 c.480C>T p.L160L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1185845 ATAD2B_ENST00000238789 c.1126C>T p.R376* Substitution - Nonsense Lung COSM1161253 SMARCA4 c.2918G>A p.R973Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1309592 TET2 c.2302G>C p.D768H Substitution - Missense Urinary_tract COSM1308215 L3MBTL2 c.664G>A p.D222N Substitution - Missense Urinary_tract COSM1369661 BAZ1A c.123delT p.F41fs*16 Deletion - Frameshift Large_intestine COSM1468235 SUV39H1 c.57G>A p.L19L Substitution - coding silent Large_intestine COSM1369016 CHD8 c.2839A>G p.I947V Substitution - Missense Large_intestine COSM1363776 CHD4 c.417G>T p.E139D Substitution - Missense Pancreas COSM1357561 TRIM66 c.3580C>T p.R1194* Substitution - Nonsense Large_intestine COSM1474326 RNF134 c.742C>G p.R248G Substitution - Missense Breast COSM1480049 JMJD6 c.944T>G p.I315S Substitution - Missense Breast COSM1610926 CBX8 c.486A>C p.R162R Substitution - coding silent Liver COSM1619139 PRDM8 c.549C>G p.H183Q Substitution - Missense Liver COSM1583141 DNMT3A c.1988C>T p.S663L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1626157 BRWD3 c.2838T>C p.L946L Substitution - coding silent Liver COSM1637842 KDM4C c.2301A>G p.Q767Q Substitution - coding silent Bone COSM1722544 PRDM9 c.2568G>A p.G856G Substitution - coding silent Skin COSM1716717 ATRX c.5410G>C p.A1804P Substitution - Missense Central_nervous_system COSM1716420 CTCF c.713C>A p.S238* Substitution - Nonsense Endometrium COSM1754975 ACTL6B c.926C>G p.S309W Substitution - Missense Urinary_tract COSM1745844 SIRT1 c.476C>T p.S159F Substitution - Missense Urinary_tract COSM1755223 STK31 c.1708C>T p.L570L Substitution - coding silent Urinary_tract COSM1742522 ARID1B c.2954C>T p.P985L Substitution - Missense Urinary_tract COSM1749932 PHF12 c.9G>A p.E3E Substitution - coding silent Urinary_tract COSM1724236 PRDM8 c.634_636delCAG p.Q217delQ Deletion - In frame Skin COSM2078743 PHC2 c.1880A>G p.Y627C Substitution - Missense Kidney COSM2738991 NCOR1 c.4830A>G p.R1610R Substitution - coding silent Large_intestine COSM2881330 L3MBTL4 c.1803C>T p.I601I Substitution - coding silent Skin COSM2968679 PHF8 c.2525C>A p.P842Q Substitution - Missense Large_intestine COSM3010276 PHF17 c.1642T>C p.S548P Substitution - Missense Large_intestine COSM3097144 ATRX c.1886T>G p.L629R Substitution - Missense Large_intestine COSM3203708 MECOM c.612C>T p.C204C Substitution - coding silent Upper_aerodigestive_tract COSM3283289 BRD4 c.1330C>T p.R444C Substitution - Missense Large_intestine COSM3489643 SCMH1 c.521C>T p.P174L Substitution - Missense Skin COSM3460347 PRMT8 c.1150G>A p.E384K Substitution - Missense Skin COSM3615202 PRDM9 c.802C>T p.P268S Substitution - Missense Skin COSM3626167 BRPF3 c.2025C>T p.F675F Substitution - coding silent Skin COSM3600228 PHF17 c.81C>T p.S27S Substitution - coding silent Skin COSM3545321 DNMT3B c.2533C>T p.P845S Substitution - Missense Skin COSM3557311 ZBTB33 c.1753C>T p.R585C Substitution - Missense Skin COSM3521194 BPTF c.4912C>T p.P1638S Substitution - Missense Skin COSM3525853 SETBP1 c.1687C>T p.P563S Substitution - Missense Skin COSM3656829 TAF1L c.5320G>A p.E1774K Substitution - Missense Skin COSM3734939 NCOA6 c.3686C>T p.P1229L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3750310 PRDM2 c.4824A>G p.S1608S Substitution - coding silent Large_intestine COSM3763830 EHMT1 c.351T>C p.P117P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3807733 KAT6B c.3216A>G p.E1072E Substitution - coding silent Breast COSM3812843 CHD4 c.2458G>A p.E820K Substitution - Missense Breast COSM4016037 TAF3 c.398C>T p.S133F Substitution - Missense Stomach COSM4049063 YY1 c.783T>C p.P261P Substitution - coding silent Stomach COSM3996580 KDM4C c.1112G>A p.R371Q Substitution - Missense Kidney COSM4070329 CHD3 c.827G>A p.R276Q Substitution - Missense Stomach COSM4143810 PRDM16 c.1099G>C p.A367P Substitution - Missense Thyroid COSM4145728 PHF21A c.975C>A p.S325R Substitution - Missense Upper_aerodigestive_tract COSM42051 TET2 c.5581G>A p.G1861R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4392913 KDM3B c.1006G>T p.D336Y Substitution - Missense Prostate COSM4391655 SMARCC1 c.2171G>A p.R724Q Substitution - Missense Breast COSM4387437 BAP1 c.904_905insT p.P302fs*5 Insertion - Frameshift Eye COSM4541149 GTF3C1 c.2950G>A p.E984K Substitution - Missense Skin COSM4494736 CHD6 c.4391C>T p.S1464F Substitution - Missense Skin COSM4564102 AIRE c.307_307+1GG>AA p.? Unknown Skin COSM4487213 SRCAP c.3155C>T p.S1052L Substitution - Missense Skin COSM4590278 KDM2A c.310A>G p.S104G Substitution - Missense Biliary_tract COSM4591270 KMT2C c.2512G>A p.G838S Substitution - Missense Prostate COSM4591270 KMT2C c.2512G>A p.G838S Substitution - Missense Upper_aerodigestive_tract COSM4464852 HDAC4 c.1355C>T p.S452F Substitution - Missense Skin COSM4469137 KMT2D c.15039C>T p.L5013L Substitution - coding silent Skin COSM4451726 CHD6 c.1375A>T p.N459Y Substitution - Missense Skin COSM4716356 POGZ c.2081G>A p.R694Q Substitution - Missense Large_intestine COSM4666135 BRD9 c.486T>A p.V162V Substitution - coding silent Large_intestine COSM4720046 RAI1 c.1039G>A p.A347T Substitution - Missense Large_intestine COSM4694938 KDM3A c.3568delA p.K1191fs*24 Deletion - Frameshift Large_intestine COSM4694969 KDM4B c.2724delG p.G910fs*7 Deletion - Frameshift Large_intestine COSM4728316 SMARCB1 c.744delC p.T250fs*17 Deletion - Frameshift Large_intestine COSM4765254 CHD7 c.8956_8957insG p.D2988fs*2 Insertion - Frameshift Stomach COSM4679235 DPF1 c.544C>T p.R182C Substitution - Missense Large_intestine COSM4736013 TRIM28 c.601C>T p.R201W Substitution - Missense Large_intestine COSM4674643 CREBBP c.6324C>T p.Y2108Y Substitution - coding silent Large_intestine COSM4766163 TET2 c.5480_5480delA p.K1827fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4913354 CHD7 c.1878C>A p.N626K Substitution - Missense Liver COSM4938108 ZBTB4 c.176T>C p.L59P Substitution - Missense Liver COSM4955778 SETD5_ENST00000402198 c.2553G>A p.L851L Substitution - coding silent Liver COSM4962090 ZMYM3 c.4088G>A p.R1363H Substitution - Missense Pancreas COSM4991287 DOT1L c.2709C>T p.P903P Substitution - coding silent Skin COSM5009546 EP400 c.4475A>G p.Q1492R Substitution - Missense Large_intestine COSM5124192 PHF20L1 c.100_101insA p.I36fs*2 Insertion - Frameshift Large_intestine COSM5047401 KMT2D c.13356C>A p.F4452L Substitution - Missense Oesophagus COSM5348609 MYST3 c.5810_5811insT p.S1938fs*1 Insertion - Frameshift Liver COSM5381599 RERE c.1965C>T p.A655A Substitution - coding silent Skin COSM5363086 TP53BP1 c.1731A>G p.V577V Substitution - coding silent Large_intestine COSM5497656 MBD5 c.2552C>T p.A851V Substitution - Missense Biliary_tract COSM5498562 NCOA2 c.3353C>G p.S1118* Substitution - Nonsense Biliary_tract COSM5469939 ATF7IP c.3254C>T p.A1085V Substitution - Missense Large_intestine COSM5575907 SETD2 c.3323A>G p.N1108S Substitution - Missense Stomach COSM5732949 EP300 c.6244G>A p.A2082T Substitution - Missense Pancreas COSM5741416 DNMT1 c.2213T>C p.V738A Substitution - Missense Small_intestine COSM5719320 PRMT6 c.931G>A p.D311N Substitution - Missense Skin COSM5721460 TAF3 c.2601C>T p.I867I Substitution - coding silent Skin COSM5605705 ERCC6 c.420C>T p.L140L Substitution - coding silent Skin COSM5610633 SMARCA4 c.2535C>T p.V845V Substitution - coding silent Skin COSM5675426 BAZ1B c.1871T>G p.L624R Substitution - Missense Soft_tissue COSM5673603 UHRF1 c.731A>G p.N244S Substitution - Missense Soft_tissue COSM5713538 ARID1B c.3382delA p.I1128fs*65 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5552226 DAXX c.1332T>C p.D444D Substitution - coding silent Prostate COSM5561001 NSD1 c.114T>A p.N38K Substitution - Missense Prostate COSM5782218 CHD3 c.4931A>C p.E1644A Substitution - Missense Breast COSM5821040 BAZ2B c.6101A>G p.K2034R Substitution - Missense Liver COSM5819341 BRPF1 c.859A>G p.S287G Substitution - Missense Liver COSM5815995 SMYD3 c.354A>C p.K118N Substitution - Missense Liver COSM5813913 CHD6 c.2586A>T p.G862G Substitution - coding silent Liver COSM5920515 PRMT8 c.773C>T p.P258L Substitution - Missense Skin COSM5945876 ASXL1 c.3458_3458delA p.H1153fs*18 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5986592 SETD2 c.3207-3_3207-2insACCCC p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM166348 DNMT3A c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM42011 TET2 c.5615T>C p.L1872P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1716791 TET2 c.? p.Q321del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4917856 SRCAP c.9234A>G p.G3078G Substitution - coding silent Liver COSM1026702 ACTR5 c.645A>G p.G215G Substitution - coding silent Endometrium COSM5735961 ATAD2B_ENST00000238789 c.2825G>A p.R942H Substitution - Missense Large_intestine COSM1697479 PHF3 c.1139C>A p.T380N Substitution - Missense Skin COSM36248 IDH1 c.? p.R132? Substitution - Missense Bone COSM5443621 SETD1B c.2082C>T p.D694D Substitution - coding silent Oesophagus COSM5727728 ZBTB38 c.680C>T p.S227F Substitution - Missense Skin COSM3365254 BAP1 c.160G>A p.E54K Substitution - Missense Kidney COSM3341145 NSD1 c.4347T>C p.C1449C Substitution - coding silent Large_intestine COSM1081853 PHIP c.3753C>T p.F1251F Substitution - coding silent Endometrium COSM980845 MYST2 c.694G>T p.E232* Substitution - Nonsense Endometrium COSM160548 DNMT1 c.929A>G p.Q310R Substitution - Missense Breast COSM235336 SETBP1 c.2691C>T p.C897C Substitution - coding silent Skin COSM3787660 DPF1 c.660C>T p.P220P Substitution - coding silent Pancreas COSM4924324 NCOA6 c.5956A>T p.R1986* Substitution - Nonsense Liver COSM1519124 GLYR1 c.1523G>A p.R508H Substitution - Missense Large_intestine COSM2042544 SUV420H1 c.1317G>T p.K439N Substitution - Missense Large_intestine COSM4640732 TDRD6 c.338C>T p.A113V Substitution - Missense Large_intestine COSM306875 KMT2D c.6539_6540AT>AAT p.Y2180fs Complex Central_nervous_system COSM2952752 TET2 c.2033G>A p.G678D Substitution - Missense Large_intestine COSM253080 PYGO1 c.50-3delT p.? Unknown Ovary COSM4689203 GTF3C4 c.1108C>T p.P370S Substitution - Missense Large_intestine COSM985499 CHD3 c.3918C>A p.I1306I Substitution - coding silent Endometrium COSM5964670 BAZ2A c.3370C>T p.R1124C Substitution - Missense Breast COSM3974510 PBRM1 c.2364A>T p.S788S Substitution - coding silent Central_nervous_system COSM5423480 BAZ1A c.1572A>G p.A524A Substitution - coding silent Prostate COSM5802727 JMJD5 c.566G>A p.R189H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4900186 DPF1 c.400G>A p.E134K Substitution - Missense Skin COSM5019783 ERCC6 c.3650T>G p.F1217C Substitution - Missense Soft_tissue COSM975856 NCOR1 c.7004C>A p.S2335Y Substitution - Missense Endometrium COSM2692752 CDYL2 c.1213G>A p.A405T Substitution - Missense Pancreas COSM4912011 CTCF c.982G>T p.D328Y Substitution - Missense Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM3059449 RUVBL1 c.861C>T p.I287I Substitution - coding silent Large_intestine COSM1179107 KMT2C c.851G>A p.R284Q Substitution - Missense Soft_tissue COSM472672 PCGF2 c.637T>A p.Y213N Substitution - Missense Kidney COSM5492976 BAZ2A_ENST00000379441 c.5225G>A p.G1742D Substitution - Missense Biliary_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM1375542 CHD2 c.1618G>A p.V540I Substitution - Missense Large_intestine COSM3563507 ATRX c.3802G>T p.E1268* Substitution - Nonsense Skin COSM1742634 EP300 c.4453-1G>C p.? Unknown Urinary_tract COSM453650 TRRAP c.10624G>A p.V3542M Substitution - Missense Breast COSM4703492 MTA2 c.1986G>A p.E662E Substitution - coding silent Large_intestine COSM5975727 PRDM1 c.906T>C p.S302S Substitution - coding silent Upper_aerodigestive_tract COSM4655215 PHC1 c.316G>A p.A106T Substitution - Missense Large_intestine COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM85916 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5586407 RERE c.743C>T p.S248F Substitution - Missense Skin COSM1132559 BRD3 c.2029G>A p.G677R Substitution - Missense Prostate COSM4791266 LMNB2 c.141G>A p.L47L Substitution - coding silent Liver COSM4404244 PRMT5 c.13G>A p.A5T Substitution - Missense Skin COSM5547759 KDM1B c.1022_1023delCT p.L342fs*10 Deletion - Frameshift Prostate COSM129647 TDRD7 c.520G>A p.D174N Substitution - Missense Upper_aerodigestive_tract COSM1630066 NCOR1 c.515C>T p.S172L Substitution - Missense Upper_aerodigestive_tract COSM1630066 NCOR1 c.515C>T p.S172L Substitution - Missense Upper_aerodigestive_tract COSM3738474 TET2 c.? p.Q1834* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4437703 ASXL1 c.1838delC p.L614fs*89 Deletion - Frameshift Oesophagus COSM144714 PHF6 c.? p.R257* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1630066 NCOR1 c.515C>T p.S172L Substitution - Missense Upper_aerodigestive_tract COSM4617412 CHD4 c.3785A>C p.Q1262P Substitution - Missense Large_intestine COSM4880987 ASH1L c.1943C>T p.S648F Substitution - Missense Prostate COSM1480128 CHD3 c.532C>G p.P178A Substitution - Missense Breast COSM4807517 SETBP1 c.4172-8T>C p.? Unknown Pancreas COSM4934358 CHD4 c.3920A>G p.E1307G Substitution - Missense Liver COSM1079895 TDRD6 c.2699T>G p.V900G Substitution - Missense Endometrium COSM5886828 ZMYM2 c.2978C>T p.S993F Substitution - Missense Skin COSM251357 ARID1A c.6774_6792del19 p.L2259fs*2 Deletion - Frameshift Liver COSM3919892 PRDM9 c.2054C>G p.T685R Substitution - Missense Large_intestine COSM2828768 SETD5_ENST00000402198 c.1258G>A p.A420T Substitution - Missense Large_intestine COSM5694428 BTAF1 c.4593C>T p.L1531L Substitution - coding silent Soft_tissue COSM3487576 ARID1A c.2094C>T p.S698S Substitution - coding silent Skin COSM2848406 GABRG1 c.574C>A p.L192I Substitution - Missense Lung COSM1469586 BRWD3 c.4167A>G p.E1389E Substitution - coding silent Large_intestine COSM267252 PRDM2 c.2726G>T p.G909V Substitution - Missense Large_intestine COSM3450138 GLYATL1 c.397C>T p.Q133* Substitution - Nonsense Skin COSM936109 SETD1B c.2252G>A p.S751N Substitution - Missense Endometrium COSM5514836 ATAD2B_ENST00000238789 c.3721G>T p.E1241* Substitution - Nonsense Biliary_tract COSM1327736 MECOM c.2411A>G p.N804S Substitution - Missense Ovary COSM5375616 SMARCC2 c.1928C>T p.P643L Substitution - Missense Skin COSM239687 EHMT2 c.2927G>C p.C976S Substitution - Missense Prostate COSM255102 MEN1 c.? p.E30* Substitution - Nonsense Parathyroid COSM403776 PRDM15 c.340C>G p.R114G Substitution - Missense Lung COSM5655459 HDAC4 c.2226C>T p.L742L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM6016147 SRCAP c.4196C>T p.S1399F Substitution - Missense Skin COSM3583867 SMYD1 c.714C>T p.A238A Substitution - coding silent Skin COSM4163509 BRD3 c.702G>A p.P234P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3911514 ZMYND8 c.2299C>T p.P767S Substitution - Missense Skin COSM3911199 PHF20 c.1465C>T p.P489S Substitution - Missense Skin COSM5935226 ACTB c.794C>T p.S265F Substitution - Missense Skin COSM5995790 NIPBL c.2261G>A p.R754Q Substitution - Missense Prostate COSM1356502 SUV420H1 c.1707G>A p.T569T Substitution - coding silent Large_intestine COSM1296220 ARID1A c.1696C>T p.Q566* Substitution - Nonsense Urinary_tract COSM676380 HDGF c.385G>T p.A129S Substitution - Missense Lung COSM1017591 SP110 c.221G>T p.R74M Substitution - Missense Endometrium COSM5454349 TP53BP1 c.217C>T p.R73* Substitution - Nonsense Breast COSM1045648 SMARCC1 c.2682C>T p.S894S Substitution - coding silent Endometrium COSM1615520 PHF20 c.742A>T p.S248C Substitution - Missense Liver COSM1936736 BAZ2A c.458C>T p.S153L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4291451 NCOA6 c.831A>G p.Q277Q Substitution - coding silent Large_intestine COSM252979 CLOCK c.368delT p.L123fs*1 Deletion - Frameshift Large_intestine COSM23016 MEN1 c.? p.W341* Substitution - Nonsense Parathyroid COSM948237 TDRD3 c.1408A>C p.K470Q Substitution - Missense Endometrium COSM4992835 TRIM24 c.1905G>A p.L635L Substitution - coding silent Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM75543 KAT6B c.4853G>T p.S1618I Substitution - Missense Ovary COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1226788 SMARCC2 c.328G>A p.D110N Substitution - Missense Large_intestine COSM4146847 EP400 c.4053A>T p.P1351P Substitution - coding silent Thyroid COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4954947 HDAC2 c.1115G>A p.R372H Substitution - Missense Liver COSM5786911 L3MBTL4 c.1522T>C p.S508P Substitution - Missense Breast COSM4833805 KMT2D c.2266C>T p.Q756* Substitution - Nonsense Cervix COSM51222 ARID1A c.4011_4012delTT p.S1338fs*106 Deletion - Frameshift Ovary COSM3559626 HCFC1 c.2984C>T p.T995I Substitution - Missense Skin COSM145115 ASXL1 c.2512A>T p.K838* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4161070 PHF1 c.844T>G p.S282A Substitution - Missense Thyroid COSM3510224 CHD9 c.368C>T p.P123L Substitution - Missense Skin COSM20998 TAF1 c.983_988delTAGATA p.I328_K330>K Complex - deletion inframe Breast COSM4885017 HDAC4 c.1902C>A p.P634P Substitution - coding silent Upper_aerodigestive_tract COSM4849674 SFMBT1 c.2104G>A p.E702K Substitution - Missense Cervix COSM5452128 BAZ2B c.2794C>T p.R932W Substitution - Missense Large_intestine COSM3625706 DAXX c.2019G>A p.L673L Substitution - coding silent Skin COSM427502 EPC1 c.245A>G p.N82S Substitution - Missense Breast COSM5047114 KMT2D c.10031C>G p.S3344* Substitution - Nonsense Oesophagus COSM5682153 EHMT2 c.1318G>T p.E440* Substitution - Nonsense Soft_tissue COSM1444903 TDRD6 c.4155G>A p.V1385V Substitution - coding silent Large_intestine COSM5019618 DAXX c.1137T>C p.Y379Y Substitution - coding silent Breast COSM1087588 KMT2C c.6082C>T p.R2028* Substitution - Nonsense Breast COSM985382 KDM6B c.2253_2258delCACCAC p.T761_T762delTT Deletion - In frame Prostate COSM4159227 PRDM8 c.298G>A p.E100K Substitution - Missense Thyroid COSM981377 MBTD1 c.1110T>C p.D370D Substitution - coding silent Endometrium COSM3758401 KDM3A c.1339T>C p.S447P Substitution - Missense Large_intestine COSM1744280 RNF2 c.818G>A p.R273Q Substitution - Missense Large_intestine COSM1706181 HCFC2 c.565C>T p.P189S Substitution - Missense Skin COSM5380968 SCMH1 c.1308C>T p.S436S Substitution - coding silent Skin COSM4008300 KDM4A c.2312T>C p.L771P Substitution - Missense Stomach COSM1088630 STK31 c.1141G>A p.D381N Substitution - Missense Endometrium COSM4440017 BRD9 c.706G>A p.G236R Substitution - Missense Thyroid COSM1726829 SETD2 c.3076T>C p.C1026R Substitution - Missense Liver COSM3604083 GABRG1 c.1245C>T p.F415F Substitution - coding silent Skin COSM1604173 KMT2A c.10485delG p.E3496fs*52 Deletion - Frameshift Liver COSM5737203 NIPBL c.2713T>C p.S905P Substitution - Missense Small_intestine COSM2064410 TDG c.235C>A p.P79T Substitution - Missense Kidney COSM30412 KDM3A c.559G>C p.D187H Substitution - Missense Breast COSM124649 MYST2 c.53C>T p.S18F Substitution - Missense Cervix COSM480450 PBRM1 c.508C>T p.Q170* Substitution - Nonsense Kidney COSM5499210 MGA c.8047G>A p.G2683S Substitution - Missense Biliary_tract COSM1054447 WHSC1 c.4057C>T p.R1353W Substitution - Missense Large_intestine COSM941771 BAZ2A_ENST00000379441 c.1715G>A p.R572Q Substitution - Missense Endometrium COSM1211275 JMJD6 c.1121G>T p.R374M Substitution - Missense Large_intestine COSM1559931 LMNA c.1487C>T p.T496M Substitution - Missense Large_intestine COSM985408 CBX8 c.119G>T p.S40I Substitution - Missense Endometrium COSM5826522 PHF2 c.2955_2956ins15 p.T996_S997insTPAST Insertion - In frame Large_intestine COSM1079912 TDRD6 c.5158C>A p.L1720I Substitution - Missense Endometrium COSM3488240 PRDM16 c.2763C>T p.S921S Substitution - coding silent Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM298445 EYA3 c.1041T>C p.I347I Substitution - coding silent Large_intestine COSM3669777 TRRAP c.463C>T p.L155L Substitution - coding silent Liver COSM4064165 NCOR1 c.1806G>A p.A602A Substitution - coding silent Stomach COSM920539 KAT6B c.5674C>T p.P1892S Substitution - Missense Endometrium COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87274 EZH2 c.1505G>A p.R502Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1131365 ATXN7 c.240G>A p.E80E Substitution - coding silent Prostate COSM1637763 KDM2B c.2400G>A p.W800* Substitution - Nonsense Bone COSM4714002 PHF21B c.1570G>A p.V524I Substitution - Missense Large_intestine COSM1731586 BPTF c.7014_7024del11 p.S2339fs*180 Deletion - Frameshift Liver COSM1616520 TCF20 c.4181A>T p.E1394V Substitution - Missense Liver COSM1131647 KMT2C c.2755G>C p.V919L Substitution - Missense Thyroid COSM5917535 BAZ2B c.679G>T p.D227Y Substitution - Missense Skin COSM5779281 HDAC6 c.2211C>T p.V737V Substitution - coding silent Breast COSM4908524 SMARCC1 c.1672G>T p.V558L Substitution - Missense Kidney COSM35802 TAF1 c.218G>A p.G73E Substitution - Missense Central_nervous_system COSM3190624 HDAC5 c.1224G>T p.R408R Substitution - coding silent Large_intestine COSM4995438 ARID1A c.4724C>A p.P1575Q Substitution - Missense Upper_aerodigestive_tract COSM1718013 ALKBH1 c.110C>T p.T37I Substitution - Missense Skin COSM1209384 HDAC4 c.776A>G p.K259R Substitution - Missense Large_intestine COSM317185 CREBBP c.4280+2T>C p.? Unknown Lung COSM3236519 HCFC1 c.3766G>T p.A1256S Substitution - Missense Upper_aerodigestive_tract COSM1091562 BAZ1B c.2199G>T p.E733D Substitution - Missense Endometrium COSM3968350 MBD6 c.851C>T p.P284L Substitution - Missense Central_nervous_system COSM921444 BTAF1 c.5346G>T p.E1782D Substitution - Missense Endometrium COSM3563137 TAF1 c.964T>C p.S322P Substitution - Missense Skin COSM431535 BAZ2A c.3125delA p.K1042fs*11 Deletion - Frameshift Breast COSM1717662 KMT2D c.7964C>T p.A2655V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM455831 TAF1L c.761_762insT p.P255fs*33 Insertion - Frameshift Breast COSM4606549 SETD2 c.3093_3120del28 p.N1032fs*21 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5606430 CHD6 c.4316T>G p.M1439R Substitution - Missense Skin COSM1462000 TAF1L c.4066C>T p.R1356C Substitution - Missense Skin COSM5423833 BAG6 c.2720G>C p.W907S Substitution - Missense Prostate COSM5916115 PRDM11 c.971G>A p.G324E Substitution - Missense Skin COSM1663469 PHF1 c.789T>A p.S263R Substitution - Missense Kidney COSM4444204 ATRX c.3100C>A p.Q1034K Substitution - Missense Large_intestine COSM419723 MECOM c.2711A>T p.E904V Substitution - Missense Urinary_tract COSM5692317 ASH1L c.4439A>T p.E1480V Substitution - Missense Soft_tissue COSM4689684 HDAC4 c.954C>T p.P318P Substitution - coding silent Large_intestine COSM5185052 TAF1L c.3826C>T p.R1276C Substitution - Missense Small_intestine COSM5625661 TCF20 c.5123G>T p.C1708F Substitution - Missense Oesophagus COSM4701978 MGA c.6219C>A p.S2073S Substitution - coding silent Large_intestine COSM896681 PYGO2 c.954C>T p.S318S Substitution - coding silent Endometrium COSM1387286 BAHCC1 c.2959C>A p.P987T Substitution - Missense Large_intestine COSM900293 TDRD5 c.539A>G p.N180S Substitution - Missense Endometrium COSM5413156 BRWD3 c.491C>T p.S164L Substitution - Missense Skin COSM4118100 SMARCC1 c.1243A>G p.T415A Substitution - Missense Stomach COSM4616401 ZMYND11 c.1585G>A p.E529K Substitution - Missense Large_intestine COSM2157307 ATXN7 c.2180delC p.S727fs*24 Deletion - Frameshift Central_nervous_system COSM5769831 HDAC1 c.514T>C p.Y172H Substitution - Missense Breast COSM5945422 ASXL1 c.2693G>A p.W898* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5367553 PRDM2 c.2955_2956insC p.P988fs*102 Insertion - Frameshift Large_intestine COSM22623 MEN1 c.1050-2A>G p.? Unknown Pituitary COSM4655482 TAF1 c.2783G>A p.R928H Substitution - Missense Large_intestine COSM5792694 PRDM2 c.1083G>A p.P361P Substitution - coding silent Upper_aerodigestive_tract COSM3919887 PRDM9 c.717C>T p.A239A Substitution - coding silent Skin COSM4828446 ZMYM3 c.877C>T p.R293C Substitution - Missense Cervix COSM1611152 AP001011.3_ENST00000320876 c.1279A>G p.I427V Substitution - Missense Liver COSM3371065 SETBP1 c.1338A>T p.E446D Substitution - Missense Thyroid COSM129641 TDRD3 c.1292G>C p.G431A Substitution - Missense Upper_aerodigestive_tract COSM5720045 PBRM1 c.3588C>T p.F1196F Substitution - coding silent Skin COSM4948636 BRD3 c.1102C>T p.R368* Substitution - Nonsense Large_intestine COSM1210672 ING5 c.292C>T p.R98* Substitution - Nonsense Breast COSM13394 MSH6 c.3261_3262insC p.F1088fs*5 Insertion - Frameshift Large_intestine COSM97159 PRDM1 c.646G>T p.E216* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4652369 ING1 c.483C>T p.N161N Substitution - coding silent Large_intestine COSM2949900 MINA c.550G>A p.E184K Substitution - Missense Large_intestine COSM88749 CREBBP c.4336C>T p.R1446C Substitution - Missense Skin COSM4928146 ZMYM3 c.1989G>A p.L663L Substitution - coding silent Liver COSM742365 RING1 c.795G>C p.V265V Substitution - coding silent Lung COSM679187 ACTA1 c.181C>T p.Q61* Substitution - Nonsense Lung COSM1030689 BRWD1 c.4759G>A p.V1587I Substitution - Missense Endometrium COSM22594 MEN1 c.758C>T p.S253L Substitution - Missense Prostate COSM4570608 NCOA1 c.2971T>A p.Y991N Substitution - Missense Skin COSM133021 ARID1A c.6403_6408delATTCTG p.I2135_L2136del Deletion - In frame Lung COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5405995 ZCWPW1 c.132C>T p.I44I Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5784623 SMARCA2 c.3966G>A p.E1322E Substitution - coding silent Breast COSM5346850 KMT2D c.3565C>T p.L1189F Substitution - Missense Pancreas COSM4791037 L3MBTL2 c.1561G>C p.A521P Substitution - Missense Liver COSM722957 SMYD1 c.8T>G p.I3R Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4991773 MSH6 c.3258C>T p.P1086P Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5718394 PHF2 c.442G>C p.D148H Substitution - Missense Skin COSM5925289 L3MBTL3 c.2123G>A p.W708* Substitution - Nonsense Skin COSM3552567 SMARCB1 c.620A>G p.N207S Substitution - Missense Skin COSM5033868 PHF8 c.1730+7T>G p.? Unknown Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4837337 BPTF c.5375G>A p.R1792K Substitution - Missense Cervix COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5904426 CHD9 c.4039C>T p.L1347F Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1169517 KDM5C c.3187G>A p.V1063M Substitution - Missense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1752570 CAMKMT c.196G>C p.E66Q Substitution - Missense Urinary_tract COSM4172327 SETD2 c.659A>T p.N220I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM926754 RAG2 c.1049G>A p.C350Y Substitution - Missense Endometrium COSM4884158 HDAC5 c.37C>T p.R13W Substitution - Missense Upper_aerodigestive_tract COSM4808242 ORC1 c.322G>A p.G108S Substitution - Missense Pancreas COSM255252 KDM6A c.3536_3548+1delACTTCTGTGAAAAG p.? Unknown Central_nervous_system COSM4992082 TET2 c.3690C>T p.I1230I Substitution - coding silent Skin COSM1966295 TAF3 c.2764_2766delAAG p.K923delK Deletion - In frame Large_intestine COSM4663219 ARID1A c.1699delC p.Q567fs*52 Deletion - Frameshift Large_intestine COSM3108664 JMJD5 c.1029G>A p.P343P Substitution - coding silent Large_intestine COSM5550665 PRMT7 c.253G>A p.A85T Substitution - Missense Prostate COSM4730984 SUV420H1 c.2621G>A p.R874K Substitution - Missense Large_intestine COSM5401337 CLOCK c.220C>T p.L74L Substitution - coding silent Skin COSM3624832 EHMT2 c.2615C>T p.S872L Substitution - Missense Skin COSM2027706 MTA1 c.1907delG p.G638fs*11 Deletion - Frameshift Large_intestine COSM5003495 CHD7 c.7241C>A p.A2414D Substitution - Missense Pancreas COSM347823 KMT2D c.2778C>T p.L926L Substitution - coding silent Lung COSM302642 KMT2D c.11192T>C p.M3731T Substitution - Missense Central_nervous_system COSM3597967 SETD5_ENST00000402198 c.1375G>T p.E459* Substitution - Nonsense Skin COSM3788751 TDRD10 c.252A>G p.T84T Substitution - coding silent Urinary_tract COSM3551322 DNMT3L c.877G>T p.E293* Substitution - Nonsense Skin COSM1169634 PBRM1 c.? p.? Unknown Kidney COSM132968 ASXL1 c.? p.E635fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM4728462 SMEK1 c.1133G>A p.R378Q Substitution - Missense Large_intestine COSM265477 ARID2 c.520G>T p.D174Y Substitution - Missense Large_intestine COSM987418 SMCHD1 c.2844A>G p.P948P Substitution - coding silent Endometrium COSM2105414 KMT2A c.2817T>C p.H939H Substitution - coding silent Large_intestine COSM3967777 KDM2A c.1696C>T p.R566W Substitution - Missense Central_nervous_system COSM43524 TET2 c.3769_3770insA p.T1257fs*11 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3717855 AP001011.3_ENST00000320876 c.3086A>T p.K1029M Substitution - Missense Liver COSM233184 PRMT8 c.903C>A p.N301K Substitution - Missense Skin COSM1231637 UBR7 c.268G>T p.E90* Substitution - Nonsense Large_intestine COSM4851409 SETMAR c.1806G>C p.L602F Substitution - Missense Cervix COSM4921898 DIDO1 c.5596G>A p.A1866T Substitution - Missense Liver COSM3358553 PBRM1 c.1009delG p.V337fs*25 Deletion - Frameshift Kidney COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43416 TET2 c.2368C>T p.Q790* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM43471 TET2 c.4081G>A p.G1361S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM83884 ARID1A c.3826C>T p.R1276* Substitution - Nonsense Stomach COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Pancreas COSM53030 EZH2 c.1774_1777delACTT p.T592fs*82 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM88756 CREBBP c.286C>T p.Q96* Substitution - Nonsense Urinary_tract COSM120931 KDM4A c.337G>A p.E113K Substitution - Missense Upper_aerodigestive_tract COSM129636 TCF20 c.877C>G p.Q293E Substitution - Missense Upper_aerodigestive_tract COSM144545 TET2 c.5216G>T p.R1739I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM149918 KDM3B c.714G>A p.E238E Substitution - coding silent Large_intestine COSM162849 NCOR1 c.937C>T p.Q313* Substitution - Nonsense Breast COSM164845 TDRD6 c.2446C>G p.H816D Substitution - Missense Breast COSM189226 MYST2 c.380G>A p.R127Q Substitution - Missense Large_intestine COSM234574 CREBBP c.714G>C p.V238V Substitution - coding silent Skin COSM234781 GTF3C1 c.4536G>C p.T1512T Substitution - coding silent Skin COSM231959 CBX5 c.275C>A p.S92Y Substitution - Missense Skin COSM245964 NCOA2 c.3139T>C p.S1047P Substitution - Missense Prostate COSM287292 GLYR1 c.1140_1141insG p.R381fs*15 Insertion - Frameshift Large_intestine COSM297632 TCF20 c.5844G>A p.A1948A Substitution - coding silent Large_intestine COSM309544 BRWD3 c.4062_4068delAGATTCA p.Q1354fs*11 Deletion - Frameshift Lung COSM337121 INTS12 c.1282C>T p.P428S Substitution - Missense Lung COSM349384 AKAP1 c.2453C>G p.P818R Substitution - Missense Lung COSM348671 ARID2 c.706-1G>T p.? Unknown Lung COSM359688 CHD6 c.5086G>T p.E1696* Substitution - Nonsense Lung COSM377146 INOC1 c.3723G>C p.K1241N Substitution - Missense Lung COSM370691 ACTA1 c.309C>A p.H103Q Substitution - Missense Lung COSM420768 NSD1 c.605G>A p.G202D Substitution - Missense Urinary_tract COSM403749 MSH6 c.962C>G p.S321* Substitution - Nonsense Lung COSM427095 TDRD1 c.3264G>C p.V1088V Substitution - coding silent Breast COSM430609 SETD8 c.1041C>A p.H347Q Substitution - Missense Breast COSM435144 SETD1A c.1950T>A p.P650P Substitution - coding silent Breast COSM677841 TDRD5 c.1604G>A p.R535K Substitution - Missense Skin COSM3724525 SMARCA4 c.3565C>T p.R1189* Substitution - Nonsense Ovary COSM673961 KMT2C c.14543A>G p.N4848S Substitution - Missense Central_nervous_system COSM720796 NCOA1 c.2298G>C p.L766L Substitution - coding silent Lung COSM907713 ARID1A c.3562C>T p.Q1188* Substitution - Nonsense Endometrium COSM908614 ZMYM6 c.2018A>G p.K673R Substitution - Missense Endometrium COSM929719 MTA2 c.1321G>A p.A441T Substitution - Missense Endometrium COSM1007223 MBD5 c.1896C>T p.L632L Substitution - coding silent Endometrium COSM1034776 TCF20 c.1050T>A p.P350P Substitution - coding silent Endometrium COSM1056172 CLOCK c.514A>G p.T172A Substitution - Missense Endometrium COSM1109587 KDM4C c.1494G>T p.E498D Substitution - Missense Endometrium COSM1245452 ARID2 c.102_103insA p.I37fs*29 Insertion - Frameshift Oesophagus COSM1248229 CHD8 c.6498C>T p.L2166L Substitution - coding silent Oesophagus COSM1253994 HCFC2 c.314C>A p.A105E Substitution - Missense Oesophagus COSM1209352 HCFC2 c.1999A>G p.I667V Substitution - Missense Large_intestine COSM1180905 HDAC4 c.2703delC p.M902fs*55 Deletion - Frameshift Large_intestine COSM1184397 BAHCC1 c.4198G>A p.A1400T Substitution - Missense Large_intestine COSM1262967 PRDM9 c.367T>C p.S123P Substitution - Missense Oesophagus COSM1235384 BAP1 c.68-9_72del14 p.? Unknown Eye COSM1225374 SETD5_ENST00000402198 c.1336C>T p.R446W Substitution - Missense Large_intestine COSM1190274 NCOA5 c.1174G>T p.G392W Substitution - Missense Lung COSM1606141 ARID2 c.3817C>T p.R1273* Substitution - Nonsense Upper_aerodigestive_tract COSM1309195 SETD2 c.2246C>T p.S749L Substitution - Missense Urinary_tract COSM1289714 EP400 c.8181_8182insCAG p.Q2748_T2749insQ Insertion - In frame Large_intestine COSM1326697 NCOA3 c.2154C>T p.D718D Substitution - coding silent Stomach COSM1387300 BAHCC1 c.7308C>T p.S2436S Substitution - coding silent Large_intestine COSM1387383 CHD3 c.5760C>A p.Y1920* Substitution - Nonsense Large_intestine COSM1377022 GTF3C1 c.4489G>A p.V1497M Substitution - Missense Large_intestine COSM1439347 CHD1 c.629_630insA p.R211fs*4 Insertion - Frameshift Large_intestine COSM1352565 PRDM10 c.2472C>T p.T824T Substitution - coding silent Large_intestine COSM1566684 PBRM1 c.2211A>G p.T737T Substitution - coding silent Soft_tissue COSM1478869 CREBBP c.2114A>G p.N705S Substitution - Missense Breast COSM1609522 CTCF c.2145C>G p.D715E Substitution - Missense Liver COSM1624025 MYST3 c.2601C>T p.R867R Substitution - coding silent Liver COSM1581242 KMT2C c.7829G>A p.R2610Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1622169 MLL5 c.4578A>G p.Q1526Q Substitution - coding silent Liver COSM1638639 SFMBT2 c.367G>A p.V123I Substitution - Missense Oesophagus COSM1639078 EP400 c.7337+2T>C p.? Unknown Stomach COSM1674943 BRD3 c.276T>G p.N92K Substitution - Missense Large_intestine COSM1709086 SETD1A c.196C>T p.H66Y Substitution - Missense Skin COSM1665712 PRDM2 c.4618delG p.G1540fs*24 Deletion - Frameshift Kidney COSM1737885 TET2 c.4426_4427delGC p.A1476fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1751422 PHF20 c.741G>C p.K247N Substitution - Missense Urinary_tract COSM1756794 CHD4 c.5516C>G p.S1839* Substitution - Nonsense Urinary_tract COSM1978316 RAG2 c.1329G>A p.M443I Substitution - Missense Skin COSM2041368 KDM2A c.1782T>C p.F594F Substitution - coding silent Large_intestine COSM2112135 PRMT3 c.538C>T p.R180C Substitution - Missense Large_intestine COSM2741618 ZBTB4 c.1953_1955delTGA p.D651delD Deletion - In frame Upper_aerodigestive_tract COSM2823059 KDM3A c.1397A>G p.N466S Substitution - Missense Liver COSM3010276 PHF17 c.1642T>C p.S548P Substitution - Missense Large_intestine COSM3124691 ZBTB38 c.3522C>A p.F1174L Substitution - Missense Large_intestine COSM3214133 BRD3 c.638_639insT p.A216fs*47 Insertion - Frameshift Large_intestine COSM3358447 SETD2 c.6108_6114delAACCAAG p.T2037fs*22 Deletion - Frameshift Kidney COSM3393547 NIPBL c.5595G>A p.R1865R Substitution - coding silent Pancreas COSM3424203 EP300 c.4864G>A p.D1622N Substitution - Missense Large_intestine COSM3464398 CHD4 c.1926C>T p.I642I Substitution - coding silent Skin COSM3589885 MECOM c.923C>T p.P308L Substitution - Missense Skin COSM3691899 KDM6B c.4697G>A p.R1566H Substitution - Missense Large_intestine COSM3692164 L3MBTL4 c.1809G>A p.M603I Substitution - Missense Large_intestine COSM3672825 DOT1L c.3903G>T p.S1301S Substitution - coding silent Prostate COSM3680091 RAI1 c.5661T>G p.G1887G Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3677269 SETDB1 c.3538A>C p.T1180P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3721478 DIDO1 c.5574C>T p.A1858A Substitution - coding silent Upper_aerodigestive_tract COSM3711992 GTF3C1 c.48C>T p.L16L Substitution - coding silent Upper_aerodigestive_tract COSM3708940 MBD5 c.30G>T p.G10G Substitution - coding silent Liver COSM3710972 CHD4 c.2395C>G p.P799A Substitution - Missense Upper_aerodigestive_tract COSM3725785 PHF14 c.1711A>G p.S571G Substitution - Missense Lung COSM3749088 PWWP2B c.1032G>A p.E344E Substitution - coding silent Large_intestine COSM3747772 PHF2 c.2992A>C p.T998P Substitution - Missense Thyroid COSM3779944 TAF1L c.4627G>C p.D1543H Substitution - Missense Urinary_tract COSM3774123 SETD5_ENST00000402198 c.3951A>C p.T1317T Substitution - coding silent Kidney COSM3800609 KDM6A c.4012G>T p.V1338F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3819614 KAT2A c.1216A>G p.I406V Substitution - Missense Breast COSM3900247 MYST3 c.2401G>C p.E801Q Substitution - Missense Stomach COSM4020110 PRMT6 c.307C>A p.L103M Substitution - Missense Stomach COSM4104447 L3MBTL2 c.1215G>T p.K405N Substitution - Missense Stomach COSM4138126 RAI1 c.2006A>T p.D669V Substitution - Missense Pancreas COSM4385041 DNMT1 c.850A>C p.K284Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384867 CREBBP c.5545A>T p.K1849* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4445237 CHD8 c.6122A>G p.Y2041C Substitution - Missense Large_intestine COSM4486255 ZMYM2 c.302C>T p.P101L Substitution - Missense Skin COSM4565775 ORC1 c.2526_2527CC>TT p.L843F Substitution - Missense Skin COSM4565873 KDM2A c.2642_2643GG>AA p.R881Q Substitution - Missense Skin COSM4501392 CHD9 c.587C>T p.S196F Substitution - Missense Skin COSM4567442 CREBBP c.7154_7155CC>TA p.P2385L Substitution - Missense Skin COSM4550626 JMJD1C c.4401G>A p.L1467L Substitution - coding silent Skin COSM4582684 MBD5 c.2964G>T p.G988G Substitution - coding silent Bone COSM4467233 PHF12 c.1478C>T p.P493L Substitution - Missense Skin COSM4726200 SIRT4 c.104C>T p.A35V Substitution - Missense Large_intestine COSM4666093 BRD3 c.698C>T p.T233M Substitution - Missense Large_intestine COSM4694939 KDM3B c.1661G>A p.R554Q Substitution - Missense Large_intestine COSM4723960 SCMH1 c.1105A>G p.K369E Substitution - Missense Large_intestine COSM4689604 HCFC2 c.183G>A p.L61L Substitution - coding silent Large_intestine COSM4689661 HDAC10 c.1613C>T p.A538V Substitution - Missense Large_intestine COSM4770798 GTF3C1 c.4149G>T p.R1383S Substitution - Missense Pleura COSM4750630 KDM1B c.1436C>G p.S479C Substitution - Missense Stomach COSM4808562 SFMBT2 c.50C>T p.P17L Substitution - Missense Large_intestine COSM4885071 PHC3 c.1656C>A p.N552K Substitution - Missense Upper_aerodigestive_tract COSM4942965 NCOA2 c.321G>T p.Q107H Substitution - Missense Liver COSM4833919 CHD7 c.4432G>A p.E1478K Substitution - Missense Cervix COSM4821858 PRDM15 c.3540G>T p.R1180S Substitution - Missense Cervix COSM4823701 MGA c.8358G>C p.Q2786H Substitution - Missense Cervix COSM4951085 ARID1A c.1114_1115insG p.Q372fs*28 Insertion - Frameshift Liver COSM4963830 SETD2 c.5476C>T p.Q1826* Substitution - Nonsense Pancreas COSM4980899 MECOM c.2439G>A p.E813E Substitution - coding silent Oesophagus COSM5026395 PHF15 c.489C>T p.D163D Substitution - coding silent Breast COSM5094809 EP300 c.2680_2681insT p.P894fs*15 Insertion - Frameshift Thymus COSM5043927 DHX30 c.2218A>G p.I740V Substitution - Missense Liver COSM5520510 BRD1 c.291C>T p.V97V Substitution - coding silent Biliary_tract COSM5475996 AP001011.3_ENST00000320876 c.1144G>A p.E382K Substitution - Missense Large_intestine COSM5432350 DIDO1 c.3669G>A p.A1223A Substitution - coding silent Oesophagus COSM5779473 GTF3C4 c.2388G>T p.R796R Substitution - coding silent Breast COSM5825250 RAI1 c.2050C>T p.P684S Substitution - Missense Pancreas COSM5802052 EZH2 c.2186_2187insT p.D730fs*1 Insertion - Frameshift Breast COSM5883564 CHD6 c.5224G>C p.D1742H Substitution - Missense Large_intestine COSM5922660 TRRAP c.6415-4G>T p.? Unknown Skin COSM5990159 HNF1A c.857A>G p.Y286C Substitution - Missense Liver COSM6000242 KMT2D c.2542G>T p.D848Y Substitution - Missense Prostate COSM6017988 DIDO1 c.1090C>T p.Q364* Substitution - Nonsense Skin COSM5995439 ING2 c.325G>A p.E109K Substitution - Missense Prostate COSM5996575 PHF3 c.2578G>A p.G860R Substitution - Missense Prostate COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM166348 DNMT3A c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM166348 DNMT3A c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716177 EZH2 c.? p.Y646H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4989855 IKZF1 c.? p.Q62fs Frameshift Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4588874 KDM4C c.673G>A p.A225T Substitution - Missense Bone COSM4572522 ATF2 c.771T>G p.S257R Substitution - Missense Skin COSM5929041 EYA1 c.640G>A p.D214N Substitution - Missense Skin COSM3816035 MGA c.9193C>A p.P3065T Substitution - Missense Breast COSM5806550 HDAC9 c.521G>C p.R174P Substitution - Missense Liver COSM1067641 NIPBL c.462G>A p.R154R Substitution - coding silent Endometrium COSM1245998 BAZ2B c.5494T>G p.L1832V Substitution - Missense Oesophagus COSM5609396 KMT2A c.4594C>A p.R1532S Substitution - Missense Skin COSM421626 ING3 c.1160A>C p.H387P Substitution - Missense Urinary_tract COSM941729 BAZ2A_ENST00000379441 c.4672G>A p.D1558N Substitution - Missense Endometrium COSM1735762 TET2 c.2737C>T p.Q913* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4423365 PYGO1 c.50-3_50-2insT p.? Unknown Central_nervous_system COSM1621455 EHMT2 c.613A>G p.I205V Substitution - Missense Liver COSM1087639 KMT2C c.2910A>G p.A970A Substitution - coding silent Endometrium COSM290981 ARID2 c.3612C>T p.S1204S Substitution - coding silent Large_intestine COSM4531467 DNMT3A c.1790G>A p.R597Q Substitution - Missense Large_intestine COSM4034563 PHRF1 c.3842A>T p.Q1281L Substitution - Missense Stomach COSM3921529 PHF1 c.1245A>G p.S415S Substitution - coding silent Skin COSM4919609 PRMT1 c.429C>A p.C143* Substitution - Nonsense Liver COSM4957807 BAZ2B c.1563A>C p.E521D Substitution - Missense Liver COSM1561683 MEN1 c.125G>A p.G42D Substitution - Missense Adrenal_gland COSM1622170 MLL5 c.5043A>C p.P1681P Substitution - coding silent Thyroid COSM1026091 NCOA6 c.2730C>T p.N910N Substitution - coding silent Endometrium COSM1169679 TET2 c.? p.L757fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM4713902 PHC2 c.1092G>A p.Q364Q Substitution - coding silent Large_intestine COSM1314058 MYST3 c.3379C>G p.L1127V Substitution - Missense Urinary_tract COSM5583305 BAHCC1 c.4794C>T p.G1598G Substitution - coding silent Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM4966344 DIDO1 c.1174C>T p.P392S Substitution - Missense Prostate COSM5753605 KMT2A c.1482G>T p.E494D Substitution - Missense Large_intestine COSM916614 SUV39H2 c.861C>T p.L287L Substitution - coding silent Endometrium COSM3508972 SETD1A c.1078C>T p.R360C Substitution - Missense Skin COSM4773165 SMARCC2 c.1242G>T p.E414D Substitution - Missense Stomach COSM5944138 TET2 c.2090_2090delC p.P697fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM294306 DHX30 c.1505G>T p.R502L Substitution - Missense Large_intestine COSM1270718 ZBTB4 c.2872G>T p.A958S Substitution - Missense Oesophagus COSM1740224 TP53BP1 c.1297T>C p.S433P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41153 CHD9 c.7441delA p.I2481fs*71 Deletion - Frameshift Central_nervous_system COSM43417 TET2 c.2746C>T p.Q916* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3883712 TRRAP c.2698G>A p.G900S Substitution - Missense Stomach COSM1607439 MTA1 c.730G>C p.A244P Substitution - Missense Liver COSM1447015 MLL5 c.3462G>T p.K1154N Substitution - Missense Large_intestine COSM4852043 TRIM33 c.1612C>A p.Q538K Substitution - Missense Cervix COSM5753362 PBRM1 c.? p.?fs*? Frameshift Kidney COSM1309361 PBRM1 c.3394G>A p.E1132K Substitution - Missense Urinary_tract COSM1044874 SETMAR c.1368C>T p.L456L Substitution - coding silent Endometrium COSM469923 BAZ1A c.2798T>C p.L933P Substitution - Missense Kidney COSM3205550 TBL1XR1 c.9A>G p.I3M Substitution - Missense Large_intestine COSM4435981 PHF21A c.1219G>C p.E407Q Substitution - Missense Oesophagus COSM944180 AICDA c.333G>A p.A111A Substitution - coding silent Endometrium COSM5444419 ARID4A c.3148G>C p.E1050Q Substitution - Missense Oesophagus COSM5404885 HDGFL1 c.126C>T p.F42F Substitution - coding silent Skin COSM183184 PRMT5 c.888C>A p.A296A Substitution - coding silent Large_intestine COSM82351 SFMBT1 c.1050C>T p.G350G Substitution - coding silent Ovary COSM431203 KMT2D c.10026G>A p.Q3342Q Substitution - coding silent Soft_tissue COSM4679191 DOT1L c.466G>A p.D156N Substitution - Missense Oesophagus COSM1093722 TRRAP c.10965C>T p.F3655F Substitution - coding silent Endometrium COSM150428 KMT2C c.2958A>G p.P986P Substitution - coding silent Stomach COSM216426 SMCHD1 c.3350G>A p.R1117Q Substitution - Missense Pancreas COSM4153871 TIF1 c.833T>A p.M278K Substitution - Missense Ovary COSM5570741 SMARCC1 c.41T>G p.V14G Substitution - Missense Prostate COSM5807544 SETD2 c.3412A>T p.T1138S Substitution - Missense Liver COSM4841056 MGA c.8447G>T p.R2816I Substitution - Missense Cervix COSM3547382 NCOA3 c.3467G>A p.R1156Q Substitution - Missense Stomach COSM108018 TAF1L c.2349C>T p.I783I Substitution - coding silent Skin COSM26493 MSH6 c.741delA p.K247fs*32 Deletion - Frameshift Stomach COSM5563255 CHD4 c.3978A>G p.Q1326Q Substitution - coding silent Prostate COSM4384738 KMT2D c.4552G>A p.A1518T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1122964 KDM5C c.1493A>G p.K498R Substitution - Missense Endometrium COSM5563725 SETD5_ENST00000402198 c.1602G>T p.Q534H Substitution - Missense Prostate COSM1642928 ARID1B c.3169C>T p.R1057* Substitution - Nonsense Skin COSM327314 PHF6 c.916G>T p.G306* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM414474 PRDM16 c.811G>C p.E271Q Substitution - Missense Urinary_tract COSM3988429 SRCAP c.9444T>A p.S3148R Substitution - Missense Kidney COSM1361286 PRMT8 c.898C>T p.R300C Substitution - Missense Breast COSM4682127 EYA1 c.431C>T p.A144V Substitution - Missense Large_intestine COSM254841 NCOR1 c.4349C>T p.S1450L Substitution - Missense Urinary_tract COSM5576173 TIF1 c.706G>C p.E236Q Substitution - Missense Stomach COSM3420983 CREBBP c.910G>A p.V304I Substitution - Missense Large_intestine COSM5931695 NSD1 c.6559C>T p.R2187* Substitution - Nonsense Skin COSM4821136 SRCAP c.2401C>G p.R801G Substitution - Missense Cervix COSM5358365 KMT2C c.10863T>G p.A3621A Substitution - coding silent Large_intestine COSM5901578 WHSC1L1 c.484C>T p.Q162* Substitution - Nonsense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5442691 DIDO1 c.4107G>C p.Q1369H Substitution - Missense Oesophagus COSM4977288 TAF1L c.5325T>C p.D1775D Substitution - coding silent Oesophagus COSM5756316 BAP1 c.1036delG p.V346fs*16 Deletion - Frameshift Large_intestine COSM3833998 ATAD2 c.607G>A p.E203K Substitution - Missense Breast COSM6008203 SMYD4 c.616G>A p.E206K Substitution - Missense Prostate COSM1306521 SP110 c.114A>G p.L38L Substitution - coding silent Urinary_tract COSM3615186 PRDM9 c.133G>A p.D45N Substitution - Missense Skin COSM211541 TET2 c.? p.Q1068fs*13 Frameshift Haematopoietic_and_lymphoid_tissue COSM5205888 HDAC4 c.845delA p.K282fs*116 Deletion - Frameshift Breast COSM1456876 ASH2L c.971G>A p.R324H Substitution - Missense Large_intestine COSM5626286 PRDM8 c.1188C>A p.A396A Substitution - coding silent Oesophagus COSM987895 ASXL3 c.142G>C p.E48Q Substitution - Missense Endometrium COSM1566159 DIDO1 c.3595delA p.I1199fs*10 Deletion - Frameshift Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM454518 ASH2L c.447C>T p.V149V Substitution - coding silent Breast COSM3778945 CHRAC1 c.275-1G>C p.? Unknown Urinary_tract COSM168759 TRIM24 c.2161C>T p.R721* Substitution - Nonsense Large_intestine COSM5667505 CBX2 c.672C>G p.G224G Substitution - coding silent Soft_tissue COSM5706654 CHD3 c.3017C>T p.A1006V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3253964 MLL5 c.3179G>A p.R1060Q Substitution - Missense Large_intestine COSM473480 KDM6B c.2635G>T p.A879S Substitution - Missense Upper_aerodigestive_tract COSM3294905 ZMYND8 c.1822G>A p.D608N Substitution - Missense Pancreas COSM373060 NCOA5 c.1358C>T p.P453L Substitution - Missense Lung COSM4509999 MTA2 c.823C>T p.L275L Substitution - coding silent Skin COSM5702604 PHF6 c.119C>A p.A40E Substitution - Missense Autonomic_ganglia COSM254547 ARID1A c.4750C>T p.Q1584* Substitution - Nonsense Urinary_tract COSM1122923 KDM5C c.4304G>A p.R1435H Substitution - Missense Endometrium COSM52803 PBRM1 c.384+3A>T p.? Unknown Kidney COSM1114036 ZBTB33 c.1803C>T p.S601S Substitution - coding silent Endometrium COSM254547 ARID1A c.4750C>T p.Q1584* Substitution - Nonsense Urinary_tract COSM1616546 PHF21B c.1515C>T p.A505A Substitution - coding silent Liver COSM121906 SMARCC1 c.2301C>G p.P767P Substitution - coding silent Upper_aerodigestive_tract COSM5483248 BRPF1 c.2392C>T p.R798W Substitution - Missense Large_intestine COSM3674895 HDAC9 c.1333C>A p.R445S Substitution - Missense Prostate COSM334681 L3MBTL3 c.995C>T p.P332L Substitution - Missense Lung COSM4462503 ERCC6 c.124G>T p.E42* Substitution - Nonsense Skin COSM211750 TET2 c.5666C>G p.P1889R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4987393 KDM6B c.2258C>T p.T753I Substitution - Missense Soft_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5691198 BAZ2A_ENST00000379441 c.91G>A p.E31K Substitution - Missense Soft_tissue COSM1187403 MLL5 c.5413A>G p.T1805A Substitution - Missense Lung COSM3857238 PRDM1 c.686A>G p.D229G Substitution - Missense Stomach COSM5068877 MGA c.6004A>T p.K2002* Substitution - Nonsense Large_intestine COSM275005 ERCC6 c.3158G>A p.R1053H Substitution - Missense Large_intestine COSM1184979 BRWD1 c.3032G>A p.R1011Q Substitution - Missense Large_intestine COSM3620820 EYA4 c.1273G>A p.D425N Substitution - Missense Skin COSM395599 CREBBP c.2510G>T p.G837V Substitution - Missense Lung COSM435118 SRCAP c.565G>A p.A189T Substitution - Missense Breast COSM5595105 PHF17 c.1219C>T p.R407W Substitution - Missense Skin COSM3061823 TCF20 c.109A>G p.M37V Substitution - Missense Upper_aerodigestive_tract COSM5622689 ARID1A c.791C>A p.S264* Substitution - Nonsense Oesophagus COSM4849576 SMARCB1 c.629-3C>T p.? Unknown Cervix COSM4445214 CHD7 c.5453_5608-6del716 p.? Unknown Large_intestine COSM1669916 ING5 c.40A>G p.I14V Substitution - Missense Large_intestine COSM1744614 TRIM24 c.903T>C p.N301N Substitution - coding silent Biliary_tract COSM1263878 RBBP4 c.194G>A p.R65Q Substitution - Missense Oesophagus COSM1473865 HDAC1 c.966G>T p.T322T Substitution - coding silent Breast COSM4614349 TCF19 c.65_66insCC p.A25fs*73 Insertion - Frameshift Large_intestine COSM325873 MUM1 c.422G>T p.R141L Substitution - Missense Lung COSM4713916 PHF11 c.127A>G p.R43G Substitution - Missense Large_intestine COSM5885147 KMT2D c.9036_9038delGCA p.H3013del Deletion - In frame Urinary_tract COSM3374104 JARID2 c.3321C>T p.S1107S Substitution - coding silent Thyroid COSM1372812 MGA c.748G>T p.D250Y Substitution - Missense Large_intestine COSM6004596 ZMYND8 c.2800-4C>A p.? Unknown Prostate COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1183572 ARID2 c.881G>T p.R294I Substitution - Missense Skin COSM932749 TRIM66 c.2864G>A p.R955Q Substitution - Missense Endometrium COSM5061309 PRDM1 c.176G>A p.S59N Substitution - Missense Stomach COSM1681679 CHD6 c.7381C>T p.P2461S Substitution - Missense Skin COSM330493 SHPRH c.4266+9delT p.? Unknown Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5412705 PHF16 c.1515G>A p.Q505Q Substitution - coding silent Skin COSM5576248 ARID1A c.6512T>C p.L2171P Substitution - Missense Stomach COSM5647277 BAZ1A c.3721G>A p.E1241K Substitution - Missense Oesophagus COSM3171677 NCOA7 c.814A>G p.M272V Substitution - Missense Large_intestine COSM94714 MLLT6 c.167C>T p.S56F Substitution - Missense Breast COSM3592253 ZCWPW2 c.712A>G p.K238E Substitution - Missense Skin COSM704852 RAI1 c.2452G>T p.V818L Substitution - Missense Lung COSM4920847 RAG2 c.1260C>A p.C420* Substitution - Nonsense Liver COSM4966391 PRMT5 c.775A>G p.K259E Substitution - Missense Prostate COSM907738 ARID1A c.5290G>T p.E1764* Substitution - Nonsense Endometrium COSM424702 TDRD5 c.1440C>A p.I480I Substitution - coding silent Breast COSM3454810 KDM4D c.1452G>T p.S484S Substitution - coding silent Skin COSM5019001 CHD4 c.417_419delGGA p.E139delE Deletion - In frame Soft_tissue COSM1992288 APOBEC1 c.213G>A p.T71T Substitution - coding silent Upper_aerodigestive_tract COSM435526 CTCF c.61_64delGAGA p.K23fs*38 Deletion - Frameshift Breast COSM1672348 BRPF3 c.143G>A p.R48H Substitution - Missense Large_intestine COSM1756600 SUV39H1 c.939C>A p.A313A Substitution - coding silent Urinary_tract COSM4404166 PRMT7 c.1324-2A>G p.? Unknown Skin COSM24028 TRIM24 c.2871C>T p.S957S Substitution - coding silent Skin COSM988396 SETBP1 c.4012C>T p.P1338S Substitution - Missense Endometrium COSM912519 RERE c.2071C>T p.R691C Substitution - Missense Endometrium COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM4807483 SUZ12 c.1829A>G p.E610G Substitution - Missense Pancreas COSM1336720 TDRD5 c.2773C>T p.R925C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1179536 RBBP4 c.1186G>T p.D396Y Substitution - Missense Prostate COSM1644987 SIRT6 c.80C>G p.P27R Substitution - Missense Upper_aerodigestive_tract COSM5950915 ARID1B c.2944A>G p.I982V Substitution - Missense Prostate COSM110492 SMARCA4 c.2300C>T p.S767F Substitution - Missense Oesophagus COSM5948506 RING1 c.141G>A p.M47I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3524740 AP001011.3_ENST00000320876 c.2415A>T p.A805A Substitution - coding silent Skin COSM3508230 GTF3C1 c.2487G>A p.R829R Substitution - coding silent Skin COSM4771387 PBRM1 c.3710C>G p.S1237* Substitution - Nonsense Kidney COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4185517 NSD1 c.1600G>C p.G534R Substitution - Missense Kidney COSM1349989 HELLS c.1833delA p.R614fs*11 Deletion - Frameshift Breast COSM4805872 SRCAP c.7466C>G p.S2489* Substitution - Nonsense Liver COSM706274 EZH1 c.97C>A p.Q33K Substitution - Missense Lung COSM1361695 ARID2 c.2864C>T p.P955L Substitution - Missense Large_intestine COSM1017583 SP110 c.1512C>T p.V504V Substitution - coding silent Stomach COSM144182 EZH2 c.? p.P577L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM379055 BAHD1 c.1745G>A p.R582H Substitution - Missense Lung COSM1083674 MLL5 c.1795G>T p.E599* Substitution - Nonsense Endometrium COSM4170115 TET2 c.4162delA p.M1388fs*60 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4628039 EP300 c.6117C>T p.S2039S Substitution - coding silent Large_intestine COSM4486709 KMT2D c.2273C>T p.S758F Substitution - Missense Skin COSM4385107 ASXL1 c.2467delT p.L823fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1106539 BRD3 c.1764C>T p.P588P Substitution - coding silent Endometrium COSM1318632 TET2 c.822delC p.N275fs*18 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1492341 BTAF1 c.3310-2A>T p.? Unknown Kidney COSM971442 CHD9 c.8657C>T p.S2886L Substitution - Missense Endometrium COSM3878485 TRIM24 c.1016G>A p.R339H Substitution - Missense Large_intestine COSM3419122 HDAC1 c.664T>G p.Y222D Substitution - Missense Large_intestine COSM5683454 ARID1A c.210A>G p.G70G Substitution - coding silent Soft_tissue COSM5879095 EZH2 c.1410+2_1410+3insT p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5699979 TAF1L c.2567A>T p.H856L Substitution - Missense Soft_tissue COSM5820523 MYST3 c.2711A>T p.E904V Substitution - Missense Liver COSM1061235 BRD8 c.2904T>C p.S968S Substitution - coding silent Endometrium COSM1470609 HNF1A c.1014C>T p.G338G Substitution - coding silent Prostate COSM5064756 KDM5C c.1508A>G p.Y503C Substitution - Missense Stomach COSM351572 KMT2C c.10938G>C p.V3646V Substitution - coding silent Lung COSM87002 DNMT3A c.1627G>T p.G543C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5448638 CHD8 c.7388G>T p.S2463I Substitution - Missense Large_intestine COSM3905439 WDR5 c.449A>G p.D150G Substitution - Missense Stomach COSM3781612 ARID1B c.1941G>A p.S647S Substitution - coding silent Pancreas COSM6002295 GTF3C1 c.5640G>A p.M1880I Substitution - Missense Prostate COSM5042864 RAI1 c.1694C>T p.S565F Substitution - Missense Liver COSM1688384 TTF2 c.2650C>T p.P884S Substitution - Missense Skin COSM21756 TP53BP1 c.5767G>A p.D1923N Substitution - Missense Skin COSM5350356 CDYL2 c.734G>A p.S245N Substitution - Missense Lung COSM2983343 ZCWPW2 c.1004C>A p.A335D Substitution - Missense Large_intestine COSM3597960 SETD5_ENST00000402198 c.331G>A p.G111R Substitution - Missense Stomach COSM5404835 PHF10 c.658C>T p.R220* Substitution - Nonsense Skin COSM3138085 PHF15 c.70T>C p.S24P Substitution - Missense Large_intestine COSM4623481 NCOR1 c.6298C>T p.R2100C Substitution - Missense Large_intestine COSM4170754 CREBBP c.4451T>C p.F1484S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1442452 HDGFL1 c.372C>T p.G124G Substitution - coding silent Large_intestine COSM41844 TET2 c.? p.Q891* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3567451 MBD5 c.2695C>T p.H899Y Substitution - Missense Skin COSM4098453 CHD6 c.4003G>A p.E1335K Substitution - Missense Stomach COSM3548775 DIDO1 c.5402G>A p.G1801E Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3642838 TRRAP c.10202G>C p.G3401A Substitution - Missense Skin COSM4528746 PHF13 c.155G>T p.R52M Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5354771 MSH6 c.3801+2T>C p.? Unknown Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3033655 MECP2 c.1179C>T p.P393P Substitution - coding silent Large_intestine COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM3636513 KMT2C c.4940A>G p.E1647G Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3382281 CHD7 c.5587C>T p.P1863S Substitution - Missense Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM987891 ASXL3 c.124C>T p.R42W Substitution - Missense Endometrium COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1566439 EP300 c.6964delC p.H2324fs*29 Deletion - Frameshift Large_intestine COSM2152630 CREBBP c.5266_5267delCA p.Q1756fs*209 Deletion - Frameshift Central_nervous_system COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM3636495 KMT2C c.7296C>T p.F2432F Substitution - coding silent Skin COSM4768617 KMT2C c.1038G>A p.V346V Substitution - coding silent Thyroid COSM4774967 PHF6 c.375-1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3676543 AICDA c.456A>T p.V152V Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM39730 PRMT10 c.1984G>A p.D662N Substitution - Missense Central_nervous_system COSM1167991 ARID2 c.890C>T p.S297F Substitution - Missense Skin COSM4590338 SIRT6 c.671A>C p.N224T Substitution - Missense Upper_aerodigestive_tract COSM220386 EZH2 c.2045C>G p.A682G Substitution - Missense Bone COSM1749024 UBR7 c.952G>A p.D318N Substitution - Missense Urinary_tract COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Endometrium COSM3382539 KIAA2026_ENST00000399933 c.1755T>C p.C585C Substitution - coding silent Pancreas COSM144552 DNMT3A c.? p.G332* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4627162 MPHOSPH8 c.2411T>A p.V804E Substitution - Missense Large_intestine COSM41719 TET2 c.? p.K1197R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1465510 SMARCA1 c.891_892insA p.S298fs*14 Insertion - Frameshift Large_intestine COSM991 SMARCB1 c.141C>A p.Y47* Substitution - Nonsense Soft_tissue COSM994 SMARCB1 c.618G>A p.W206* Substitution - Nonsense Central_nervous_system COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM52980 EZH2 c.2069G>A p.R690H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM81367 L3MBTL3 c.1566A>G p.A522A Substitution - coding silent Ovary COSM76301 RTF1 c.1612G>C p.D538H Substitution - Missense Ovary COSM96352 BAP1 c.1182C>G p.Y394* Substitution - Nonsense Pleura COSM96934 ATRX c.5408G>A p.R1803H Substitution - Missense Central_nervous_system COSM126107 SETD7 c.1030A>G p.K344E Substitution - Missense Upper_aerodigestive_tract COSM117500 L3MBTL2 c.343T>G p.S115A Substitution - Missense Ovary COSM133737 DNMT3A c.2207G>A p.R736H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM139586 CHD1 c.3820G>A p.E1274K Substitution - Missense Skin COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Soft_tissue COSM148139 PRDM7 c.404C>A p.T135K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM189021 ARID2 c.853C>T p.R285W Substitution - Missense Pancreas COSM194006 ATXN7 c.528G>A p.P176P Substitution - coding silent Stomach COSM211639 TET2 c.2638_2638delC p.H880fs*41 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM204006 EP400 c.4746C>T p.R1582R Substitution - coding silent Stomach COSM211666 TET2 c.1960C>T p.Q654* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM211701 TET2 c.3151C>T p.Q1051* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM220682 KMT2D c.10927C>T p.Q3643* Substitution - Nonsense Oesophagus COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Large_intestine COSM298583 APOBEC1 c.121G>A p.E41K Substitution - Missense Large_intestine COSM315858 TDRD6 c.502G>T p.G168W Substitution - Missense Lung COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Upper_aerodigestive_tract COSM371175 HDAC9 c.2404G>T p.A802S Substitution - Missense Lung COSM388251 TAF1 c.3123G>C p.E1041D Substitution - Missense Lung COSM382228 EYA2 c.215C>T p.T72M Substitution - Missense Lung COSM414506 ARID1A c.2208C>T p.I736I Substitution - coding silent Urinary_tract COSM427944 KAT6B c.4542G>A p.K1514K Substitution - coding silent Breast COSM477209 DNMT3A c.1753A>C p.M585L Substitution - Missense Kidney COSM982732 SMARCD2 c.143G>A p.R48Q Substitution - Missense Liver COSM985851 BAHCC1 c.3629C>T p.P1210L Substitution - Missense Endometrium COSM979417 KAT2A c.1486C>T p.R496C Substitution - Missense Endometrium COSM1026854 CHD6 c.5213C>A p.S1738* Substitution - Nonsense Endometrium COSM745471 TIF1 c.2581G>A p.E861K Substitution - Missense Lung COSM747171 BAZ1B c.2068G>T p.E690* Substitution - Nonsense Lung COSM707542 BPTF c.2295G>T p.W765C Substitution - Missense Lung COSM724355 NCOA3 c.347T>G p.L116R Substitution - Missense Lung COSM893296 PRMT6 c.931G>T p.D311Y Substitution - Missense Endometrium COSM924948 PRDM10 c.2120A>C p.K707T Substitution - Missense Endometrium COSM926751 RAG2 c.1196T>G p.F399C Substitution - Missense Endometrium COSM1002780 TRIM28 c.1122G>A p.R374R Substitution - coding silent Endometrium COSM961510 MGA c.3923G>A p.S1308N Substitution - Missense Endometrium COSM1034509 EP300 c.95-2A>G p.? Unknown Endometrium COSM1073490 EYA4 c.1535T>C p.L512P Substitution - Missense Endometrium COSM971412 CHD9 c.1174C>A p.H392N Substitution - Missense Endometrium COSM1104692 PHF19 c.987G>T p.E329D Substitution - Missense Endometrium COSM1095765 ATAD2 c.1499_1500insA p.D500fs*5 Insertion - Frameshift Endometrium COSM1086208 JHDM1D c.298T>C p.W100R Substitution - Missense Endometrium COSM1242894 SUV420H2 c.506G>A p.R169Q Substitution - Missense Oesophagus COSM1236665 ARID1A c.753_763del11 p.P252fs*144 Deletion - Frameshift Autonomic_ganglia COSM1184952 BRPF1 c.1378T>A p.S460T Substitution - Missense Large_intestine COSM1163731 ADNP c.3047delA p.K1016fs*11 Deletion - Frameshift Large_intestine COSM1201027 CHD9 c.2145A>C p.E715D Substitution - Missense Large_intestine COSM1266518 SP100 c.1541T>A p.M514K Substitution - Missense Oesophagus COSM1225327 SETBP1 c.1645G>A p.A549T Substitution - Missense Large_intestine COSM1211717 KDM2B c.1114C>T p.R372C Substitution - Missense Bone COSM1187532 MYST3 c.1708A>G p.I570V Substitution - Missense Lung COSM1606131 ARID2 c.799G>T p.E267* Substitution - Nonsense Liver COSM1312273 TDRD6 c.5605C>G p.L1869V Substitution - Missense Urinary_tract COSM1318995 KMT2C c.8377G>T p.E2793* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1390291 SMARCA4 c.4887T>C p.D1629D Substitution - coding silent Upper_aerodigestive_tract COSM1386946 CBX2 c.1458C>T p.S486S Substitution - coding silent Large_intestine COSM1408318 MSH6 c.3995T>C p.L1332S Substitution - Missense Large_intestine COSM1409830 KDM3A c.672C>T p.N224N Substitution - coding silent Large_intestine COSM1463724 PHF2 c.548G>A p.S183N Substitution - Missense Large_intestine COSM1356505 SUV420H1 c.958G>A p.E320K Substitution - Missense Large_intestine COSM1342135 ZMYM4 c.2862_2863insA p.A956fs*68 Insertion - Frameshift Large_intestine COSM1353249 SIRT3 c.322G>A p.A108T Substitution - Missense Large_intestine COSM1341435 ARID1A c.6706C>T p.R2236C Substitution - Missense Endometrium COSM1356364 KDM2A c.3133C>T p.R1045W Substitution - Missense Large_intestine COSM1566991 SMARCA5 c.1869G>T p.M623I Substitution - Missense Large_intestine COSM1620697 CHD1 c.841C>A p.R281R Substitution - coding silent Liver COSM1626375 PRDM2 c.4458_4459insA p.V1490fs*6 Insertion - Frameshift Liver COSM1640607 RAI1 c.2783T>C p.L928P Substitution - Missense Stomach COSM1698980 TRRAP c.6199C>T p.L2067F Substitution - Missense Skin COSM1664108 SETD2 c.5987T>G p.I1996S Substitution - Missense Kidney COSM1738267 MEN1 c.1045C>G p.Q349E Substitution - Missense Ovary COSM1756766 EP400 c.3426C>T p.L1142L Substitution - coding silent Lung COSM1965067 KAT6B c.472C>T p.R158C Substitution - Missense Large_intestine COSM1989280 MBD6 c.2846C>T p.S949F Substitution - Missense Large_intestine COSM2152542 ATF7IP c.1665A>T p.K555N Substitution - Missense Central_nervous_system COSM3095605 ZMYM3 c.1575C>T p.S525S Substitution - coding silent Large_intestine COSM3304725 KMT2C c.427delA p.S143fs*3 Deletion - Frameshift Breast COSM3291724 CHD6 c.1948C>T p.P650S Substitution - Missense Skin COSM3317977 PHF20L1 c.430-4G>A p.? Unknown Skin COSM3355856 KMT2D c.3608C>G p.S1203C Substitution - Missense Breast COSM3403139 BPTF c.1497A>G p.Q499Q Substitution - coding silent Central_nervous_system COSM3413686 UHRF2 c.11A>G p.Q4R Substitution - Missense Central_nervous_system COSM3508214 GTF3C1 c.4380G>A p.K1460K Substitution - coding silent Skin COSM3501116 MGA c.8300T>C p.V2767A Substitution - Missense Skin COSM3460972 ARID2 c.2890G>T p.G964* Substitution - Nonsense Skin COSM3642753 TRRAP c.1845C>T p.I615I Substitution - coding silent Skin COSM3642761 TRRAP c.3038C>T p.P1013L Substitution - Missense Skin COSM3598238 BRPF1 c.686A>T p.N229I Substitution - Missense Skin COSM3525850 SETBP1 c.1254G>A p.R418R Substitution - coding silent Skin COSM3655142 GTF3C4 c.476C>T p.P159L Substitution - Missense Skin COSM3685117 KMT2C c.8040G>T p.Q2680H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3732918 KMT2A c.2495C>G p.P832R Substitution - Missense Stomach COSM3731970 EP300 c.6949C>T p.R2317W Substitution - Missense Stomach COSM3723643 SMARCC2 c.53C>T p.A18V Substitution - Missense Upper_aerodigestive_tract COSM3840208 SMYD1 c.1411A>G p.M471V Substitution - Missense Breast COSM3923206 KMT2C c.2401C>T p.P801S Substitution - Missense Skin COSM3917832 GABRG1 c.277G>A p.D93N Substitution - Missense Skin COSM3906166 EHMT1 c.984C>T p.D328D Substitution - coding silent Stomach COSM3887816 CHD2 c.3381C>T p.L1127L Substitution - coding silent Cervix COSM3973843 TAF1 c.3812G>T p.G1271V Substitution - Missense Central_nervous_system COSM3972169 DNMT3A c.1619G>A p.C540Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4054365 BAHD1 c.751A>G p.K251E Substitution - Missense Stomach COSM4110070 KDM5C c.1122G>A p.A374A Substitution - coding silent Stomach COSM4135395 PRMT10 c.1750G>A p.V584M Substitution - Missense Pancreas COSM4150744 CHD8 c.108C>A p.A36A Substitution - coding silent Kidney COSM4168918 TET2 c.5509G>A p.A1837T Substitution - Missense Peritoneum COSM4171286 TET2 c.301C>A p.P101T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4492840 ZMYM3 c.4048C>T p.R1350C Substitution - Missense Skin COSM4564078 WHSC1 c.1905_1906GC>AT p.P636S Substitution - Missense Skin COSM4590278 KDM2A c.310A>G p.S104G Substitution - Missense Upper_aerodigestive_tract COSM4493979 PHF3 c.4249C>T p.L1417F Substitution - Missense Skin COSM4506874 ACTL6B c.731C>T p.S244F Substitution - Missense Skin COSM4458448 SND1 c.1085C>T p.S362L Substitution - Missense Skin COSM4468397 PHF2 c.1541C>T p.P514L Substitution - Missense Skin COSM4729930 SRCAP c.1655A>C p.E552A Substitution - Missense Large_intestine COSM4694856 KDM1A c.2440C>A p.P814T Substitution - Missense Large_intestine COSM4669575 CBX6 c.562G>A p.G188R Substitution - Missense Large_intestine COSM4615573 SRCAP c.4046delC p.P1350fs*22 Deletion - Frameshift Large_intestine COSM4633969 INOC1 c.750C>G p.V250V Substitution - coding silent Large_intestine COSM4791474 BAZ1A c.3319C>T p.R1107C Substitution - Missense Large_intestine COSM4800407 NCOR1 c.313G>A p.E105K Substitution - Missense Liver COSM4890930 ERCC6 c.3580G>C p.E1194Q Substitution - Missense Upper_aerodigestive_tract COSM4909142 KMT2C c.1050G>A p.P350P Substitution - coding silent Large_intestine COSM4915351 HDAC2 c.1311T>A p.D437E Substitution - Missense Liver COSM4933858 CHD7 c.4939C>G p.L1647V Substitution - Missense Liver COSM4996023 CHD6 c.1675G>A p.A559T Substitution - Missense Upper_aerodigestive_tract COSM4980958 CHD8 c.2823A>G p.E941E Substitution - coding silent Oesophagus COSM5033059 NCOA5 c.1718G>A p.G573E Substitution - Missense Oesophagus COSM5021263 PRDM2 c.5118A>G p.P1706P Substitution - coding silent Bone COSM5019699 HNF1A c.864G>C p.G288G Substitution - coding silent Soft_tissue COSM5137118 ACTR6 c.57T>A p.H19Q Substitution - Missense Large_intestine COSM5346925 ARID1A c.6700_6708delGCTGCCCGC p.A2235_A2237delARA Deletion - In frame Endometrium COSM5443641 ARID1A c.4902G>A p.M1634I Substitution - Missense Oesophagus COSM5457252 BAG6 c.3190G>A p.A1064T Substitution - Missense Large_intestine COSM5457257 DAXX c.281G>A p.R94H Substitution - Missense Large_intestine COSM5722438 SETD1A c.895C>T p.R299W Substitution - Missense Skin COSM5724594 TRIM33 c.2406G>T p.R802S Substitution - Missense Skin COSM5588983 SMC1A c.1343C>T p.S448F Substitution - Missense Skin COSM5619718 KDM3A c.629C>G p.T210S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5619804 ACTB c.13A>G p.I5V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5579625 SMYD1 c.383C>A p.S128Y Substitution - Missense Skin COSM5587977 HELLS c.2472G>T p.K824N Substitution - Missense Skin COSM5684592 MYST1 c.100A>C p.T34P Substitution - Missense Soft_tissue COSM5750057 IDH2 c.1214C>T p.T405M Substitution - Missense Stomach COSM5795686 CHD1 c.1027G>A p.V343I Substitution - Missense Breast COSM5805013 NCOA1 c.3518A>T p.Y1173F Substitution - Missense Liver COSM5884995 HCFC1 c.2441C>T p.T814I Substitution - Missense Breast COSM5944723 ASXL1 c.2921_2922insA p.Y974fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5945241 KDM5A c.1865C>T p.A622V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6019342 SMARCA4 c.467G>T p.G156V Substitution - Missense Ovary COSM5984817 EHMT1 c.282C>T p.Y94Y Substitution - coding silent Upper_aerodigestive_tract COSM6003454 DOT1L c.1544T>A p.L515Q Substitution - Missense Prostate COSM5985549 TET2 c.2529delG p.N844fs*29 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM6016457 ZBTB4 c.2152G>A p.G718R Substitution - Missense Skin COSM41851 TET2 c.2767_2768insCATA p.N923fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43409 TET2 c.? p.?fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1684833 SETBP1 c.? p.S854A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5633163 PRDM5 c.417_418insC p.V140fs*8 Insertion - Frameshift Oesophagus COSM3473685 POGZ c.981C>T p.I327I Substitution - coding silent Skin COSM5907528 TAF1L c.1573G>A p.D525N Substitution - Missense Skin COSM1067066 PRDM9 c.506T>C p.L169P Substitution - Missense Endometrium COSM36248 IDH1 c.? p.R132? Substitution - Missense Bone COSM5819221 SUV420H2 c.1236C>T p.A412A Substitution - coding silent Liver COSM5444775 KMT2D c.12048A>C p.P4016P Substitution - coding silent Oesophagus COSM211768 ARID1A c.6298C>T p.Q2100* Substitution - Nonsense Endometrium COSM1217936 NSD1 c.4760G>A p.R1587H Substitution - Missense Large_intestine COSM3359762 KMT2D c.7429A>G p.S2477G Substitution - Missense Kidney COSM5990678 ARID2 c.1519C>T p.Q507* Substitution - Nonsense Liver COSM1045449 SETD2 c.3968G>A p.R1323H Substitution - Missense Endometrium COSM1731931 ARID1A c.2878delG p.M961fs*7 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4905392 AKAP1 c.2430C>T p.I810I Substitution - coding silent Skin COSM1605476 TDG c.1001A>G p.Y334C Substitution - Missense Liver COSM4129238 PRMT7 c.56A>G p.E19G Substitution - Missense Thyroid COSM1001480 SUV420H2 c.9C>T p.P3P Substitution - coding silent Endometrium COSM84329 CREBBP c.6841G>A p.A2281T Substitution - Missense Pancreas COSM3765021 KDM5C c.632G>A p.R211Q Substitution - Missense Central_nervous_system COSM243843 CREBBP c.6984G>A p.S2328S Substitution - coding silent Prostate COSM415774 SUV420H1 c.497A>G p.Y166C Substitution - Missense Urinary_tract COSM1235380 BAP1 c.662_662delA p.E221fs*10 Deletion - Frameshift Eye COSM4980728 ZMYM4 c.486C>T p.S162S Substitution - coding silent Oesophagus COSM364259 SFMBT2 c.1455G>A p.K485K Substitution - coding silent Lung COSM3387465 BRD7 c.1012-1G>C p.? Unknown Pancreas COSM1166293 SMARCD3 c.800G>A p.R267H Substitution - Missense Large_intestine COSM397282 KDM3B c.712G>A p.E238K Substitution - Missense Lung COSM1158936 SUV420H1 c.2418T>C p.L806L Substitution - coding silent Pancreas COSM5027184 TAF3 c.2735G>A p.C912Y Substitution - Missense Breast COSM3859822 JARID2 c.1037C>A p.A346D Substitution - Missense Stomach COSM3733522 NCOR1 c.59A>C p.Y20S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM423828 POGZ c.367C>G p.Q123E Substitution - Missense Breast COSM296142 UHRF1 c.2360A>C p.N787T Substitution - Missense Large_intestine COSM4170389 KMT2D c.15404G>A p.R5135H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1027967 ADNP c.2437C>T p.R813C Substitution - Missense Endometrium COSM5701142 HDGFL1 c.471_472insT p.K158fs*1 Insertion - Frameshift Soft_tissue COSM1444905 TDRD6 c.4550delA p.M1520fs*1 Deletion - Frameshift Stomach COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5435786 PRDM10 c.1558C>T p.R520W Substitution - Missense Oesophagus COSM250041 ATRX c.5819_5822delATAG p.D1940fs*14 Deletion - Frameshift Central_nervous_system COSM3123090 HDAC11 c.302T>C p.L101P Substitution - Missense Large_intestine COSM321603 MBD5 c.1834G>T p.G612C Substitution - Missense Lung COSM87153 TET2 c.4097G>A p.R1366H Substitution - Missense Breast COSM2156052 ARID1A c.3795C>T p.G1265G Substitution - coding silent Central_nervous_system COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1621216 PHF10 c.347_356del10 p.A116fs*8 Deletion - Frameshift Liver COSM724835 DIDO1 c.4412C>T p.S1471F Substitution - Missense Lung COSM1613553 BAZ2B c.2658A>G p.L886L Substitution - coding silent Liver COSM3413433 BRD3 c.721G>A p.G241S Substitution - Missense Central_nervous_system COSM3557309 ZBTB33 c.1596T>C p.P532P Substitution - coding silent Skin COSM3758108 ATAD2B_ENST00000238789 c.202C>T p.L68L Substitution - coding silent Large_intestine COSM4937800 LBR c.325G>T p.A109S Substitution - Missense Liver COSM4930613 PYGO2 c.1009G>T p.V337L Substitution - Missense Liver COSM722497 INO80B c.896C>G p.P299R Substitution - Missense Lung COSM3377570 TP53BP1 c.5181C>G p.T1727T Substitution - coding silent Pancreas COSM4384746 KMT2D c.2945G>A p.G982D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5483908 ORC1 c.1560C>T p.S520S Substitution - coding silent Large_intestine COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5610623 SMARCA4 c.343C>T p.Q115* Substitution - Nonsense Skin COSM5946054 ARID1A c.1237C>T p.Q413* Substitution - Nonsense Pancreas COSM1209348 HCFC1 c.587C>T p.T196M Substitution - Missense Large_intestine COSM4803347 BAZ1A c.2734G>C p.G912R Substitution - Missense Liver COSM5980325 MBD6 c.1274A>C p.H425P Substitution - Missense Upper_aerodigestive_tract COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM223477 SUV420H1 c.191G>A p.S64N Substitution - Missense Skin COSM2911866 DNMT3A c.176delC p.P59fs*13 Deletion - Frameshift Thyroid COSM1067094 PRDM9 c.2496T>C p.Y832Y Substitution - coding silent Prostate COSM5009608 MYST3 c.4226T>G p.L1409* Substitution - Nonsense Large_intestine COSM6014159 MGMT c.122C>G p.A41G Substitution - Missense Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3890846 SMCHD1 c.3168C>T p.I1056I Substitution - coding silent Skin COSM921436 BTAF1 c.3975G>A p.M1325I Substitution - Missense Endometrium COSM1622165 MLL5 c.2942_2943insTTTT p.R983fs*2 Insertion - Frameshift Liver COSM4957883 EP400 c.7683G>A p.A2561A Substitution - coding silent Liver COSM3388534 DNMT1 c.3044A>G p.K1015R Substitution - Missense Pancreas COSM4924497 DIDO1 c.3425G>A p.S1142N Substitution - Missense Liver COSM4590719 KAT2A c.1583C>T p.S528F Substitution - Missense Upper_aerodigestive_tract COSM51249 ARID1A c.6625_6625delC p.Q2209fs*22 Deletion - Frameshift Ovary COSM1291512 MSH6 c.4000C>T p.R1334W Substitution - Missense Upper_aerodigestive_tract COSM251380 ARID1A c.3281_3282insA p.Q1095fs*10 Insertion - Frameshift Liver COSM2041380 KDM2A c.2192C>T p.S731F Substitution - Missense Skin COSM1026083 NCOA6 c.3090_3092delGCA p.Q1032delQ Deletion - In frame Large_intestine COSM1443747 RING1 c.511delG p.E173fs*14 Deletion - Frameshift Large_intestine COSM5628446 DOT1L c.2321T>A p.L774Q Substitution - Missense Oesophagus COSM955466 BAZ1A c.2350C>T p.R784* Substitution - Nonsense Endometrium COSM5414588 ARID2 c.739C>T p.R247C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4537339 PRDM16 c.2409G>A p.L803L Substitution - coding silent Skin COSM3356591 KDM4A c.3087T>G p.I1029M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2965450 KDM6A c.3588T>C p.N1196N Substitution - coding silent Upper_aerodigestive_tract COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5026821 SND1 c.856G>A p.E286K Substitution - Missense Breast COSM336171 ATF2 c.1517G>T p.*506L Nonstop extension Lung COSM1237697 TDG c.287_288insA p.I98fs*6 Insertion - Frameshift Biliary_tract COSM4432790 KMT2C c.11233G>A p.E3745K Substitution - Missense Oesophagus COSM5042883 EYA4 c.356C>T p.T119I Substitution - Missense Liver COSM4853994 RERE c.104C>G p.S35* Substitution - Nonsense Cervix COSM1666862 ARID1A c.? p.? Unknown Endometrium COSM85826 ATRX c.6468A>T p.Q2156H Substitution - Missense Pancreas COSM5341257 ERCC6 c.4330C>T p.Q1444* Substitution - Nonsense Large_intestine COSM4144250 BRDT c.714A>C p.K238N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1313191 ACTB c.277G>C p.E93Q Substitution - Missense Urinary_tract COSM3697356 CHD1 c.4378G>C p.E1460Q Substitution - Missense Large_intestine COSM3546369 CHD6 c.3176C>T p.S1059L Substitution - Missense Skin COSM216315 SCMH1 c.962G>A p.S321N Substitution - Missense Pancreas COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4384860 IDH2 c.1354C>T p.Q452* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5991842 MYST3 c.4055delT p.L1352fs*1 Deletion - Frameshift Prostate COSM5713512 BMI1 c.451_452delAA p.K151fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2965432 KDM6A c.3085C>T p.H1029Y Substitution - Missense Lung COSM1161251 SMARCA4 c.2917C>T p.R973W Substitution - Missense Stomach COSM3943994 ZMYM6 c.3436G>A p.V1146I Substitution - Missense Ovary COSM460558 SRCAP c.1577C>T p.S526F Substitution - Missense Cervix COSM51475 ARID1A c.4582C>T p.R1528* Substitution - Nonsense Endometrium COSM347047 CHD2 c.1256G>C p.G419A Substitution - Missense Lung COSM3840819 NCOA6 c.4270G>A p.D1424N Substitution - Missense Breast COSM4385694 ASXL1 c.2316_2317insT p.E773fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1318933 DNMT3A c.1851+2T>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51475 ARID1A c.4582C>T p.R1528* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM144565 PHF6 c.525_526delGT p.S176fs*13 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2952745 TET2 c.1837delG p.L615fs*24 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM298045 AIRE c.294C>A p.D98E Substitution - Missense Large_intestine COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Biliary_tract COSM4968544 ATRX c.6492G>T p.R2164S Substitution - Missense Adrenal_gland COSM4385263 EP300 c.5635C>T p.P1879S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM745885 KMT2C c.10355C>T p.P3452L Substitution - Missense Lung COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM94797 KAT6B c.649A>G p.S217G Substitution - Missense Lung COSM71585 MBD4 c.1019A>G p.K340R Substitution - Missense Ovary COSM1103 SMARCB1 c.?_?del? p.?del Deletion - In frame Soft_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5677043 BTAF1 c.2134C>T p.Q712* Substitution - Nonsense Soft_tissue COSM1453416 ZCWPW1 c.1459delA p.T487fs*24 Deletion - Frameshift Large_intestine COSM937151 EP400 c.2659G>A p.A887T Substitution - Missense Large_intestine COSM133016 ARID1A c.4524T>A p.Y1508* Substitution - Nonsense Stomach COSM1476243 HNF1A c.863_864insC p.P289fs*28 Insertion - Frameshift Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM254814 KMT2A c.8647C>G p.L2883V Substitution - Missense Urinary_tract COSM4989852 IKZF1 c.? p.C495Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33233 HNF1A c.1721G>A p.S574N Substitution - Missense Breast COSM4152232 SMARCA2 c.2826A>C p.L942F Substitution - Missense Ovary COSM5569349 RAI1 c.5496C>T p.T1832T Substitution - coding silent Prostate COSM266751 KDM2A c.410G>A p.R137Q Substitution - Missense Large_intestine COSM914342 ASXL1 c.? p.Y591* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM42026 TET2 c.? p.R1366H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4717873 PRMT2 c.571G>A p.V191M Substitution - Missense Large_intestine COSM4547659 HDGFL1 c.428G>A p.G143E Substitution - Missense Skin COSM4642511 EPC2 c.331G>A p.E111K Substitution - Missense Large_intestine COSM1755551 ATAD2 c.2626A>T p.T876S Substitution - Missense Urinary_tract COSM913368 MTF2 c.1045C>T p.R349C Substitution - Missense Skin COSM4471530 TAF3 c.1724C>T p.P575L Substitution - Missense Skin COSM2894227 ATF2 c.548T>C p.V183A Substitution - Missense Large_intestine COSM5924519 TDRD1 c.2371G>A p.G791R Substitution - Missense Skin COSM1684835 SETBP1 c.? p.S869R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3364302 EPC2 c.803T>A p.V268D Substitution - Missense Kidney COSM4628222 PHF7 c.290T>C p.I97T Substitution - Missense Large_intestine COSM957510 ARID2 c.3596C>T p.A1199V Substitution - Missense Lung COSM5177044 PHC2 c.828delT p.A277fs*7 Deletion - Frameshift Large_intestine COSM1225439 SFMBT2 c.721C>T p.R241* Substitution - Nonsense Large_intestine COSM4528684 CTCF c.1556G>A p.G519E Substitution - Missense Skin COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5977952 ZMYM4 c.2198A>G p.K733R Substitution - Missense Upper_aerodigestive_tract COSM13854 CHD1 c.5038G>T p.D1680Y Substitution - Missense Lung COSM3749716 NCOA3 c.3753G>A p.Q1251Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM335261 HDAC9 c.1036G>C p.A346P Substitution - Missense Lung COSM4422182 NSD1 c.2596G>C p.E866Q Substitution - Missense Ovary COSM363515 HCFC1 c.1907C>A p.T636N Substitution - Missense Lung COSM1620726 PRDM1 c.911G>A p.R304K Substitution - Missense Liver COSM1620094 NSD1 c.7224C>T p.D2408D Substitution - coding silent Liver COSM321964 NCOA2 c.4032C>A p.N1344K Substitution - Missense Lung COSM3126284 SMARCA5 c.2988G>T p.E996D Substitution - Missense Large_intestine COSM4099066 ZMYND8 c.2439C>T p.A813A Substitution - coding silent Stomach COSM5653766 KMT2D c.860delA p.K287fs*17 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3443937 KMT2A c.839C>T p.P280L Substitution - Missense Skin COSM6001453 YY1 c.745C>T p.P249S Substitution - Missense Prostate COSM143550 DIDO1 c.5413_5414GG>AA p.G1805K Substitution - Missense Skin COSM5483030 INOC1 c.1537A>T p.I513F Substitution - Missense Large_intestine COSM972484 CTCF c.1061C>T p.S354F Substitution - Missense Urinary_tract COSM173965 CBX5 c.85C>T p.R29C Substitution - Missense Endometrium COSM1044884 SETMAR c.1880T>G p.F627C Substitution - Missense Endometrium COSM3754332 TP53BP1 c.1234G>A p.G412S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5945116 EZH2 c.1933G>A p.E645K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3488894 ZMYM4 c.3115C>T p.P1039S Substitution - Missense Skin COSM96364 BAP1 c.860C>G p.S287* Substitution - Nonsense Pleura COSM3714779 WHSC1 c.82C>T p.L28F Substitution - Missense Upper_aerodigestive_tract COSM1616069 BRWD1 c.4350T>C p.P1450P Substitution - coding silent Liver COSM1368983 CHD8 c.5713delC p.L1905fs*30 Deletion - Frameshift Large_intestine COSM750798 NCOA2 c.565G>T p.E189* Substitution - Nonsense Lung COSM3719552 ASXL1 c.2422delC p.P808fs*10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM87254 IKZF1 c.1-?_160+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5986181 SETD2 c.1975C>T p.H659Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM254905 PRDM10 c.427G>A p.D143N Substitution - Missense Urinary_tract COSM3734204 HDAC4 c.658G>A p.G220R Substitution - Missense Pancreas COSM1292860 KDM4C c.519A>T p.V173V Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5891405 KMT2C c.7334C>T p.S2445F Substitution - Missense Skin COSM1645010 SMC1A c.2446C>G p.R816G Substitution - Missense Salivary_gland COSM1717192 BAHD1 c.1958G>T p.W653L Substitution - Missense Ovary COSM5912406 EYA4 c.1091C>T p.P364L Substitution - Missense Skin COSM4593173 CBX4 c.691A>C p.N231H Substitution - Missense Upper_aerodigestive_tract COSM2022692 MGMT c.163G>T p.G55C Substitution - Missense Large_intestine COSM3538588 TFPT c.637G>A p.V213M Substitution - Missense Skin COSM4776415 PRDM15 c.258_259insC p.R88fs*46 Insertion - Frameshift Thyroid COSM3874619 CDYL c.726A>G p.G242G Substitution - coding silent Stomach COSM1756601 SUV39H1 c.1164C>T p.L388L Substitution - coding silent Urinary_tract COSM4957844 EP300 c.6223C>A p.H2075N Substitution - Missense Liver COSM3736469 MYST3 c.401T>C p.L134S Substitution - Missense Soft_tissue COSM5995331 GABRG1 c.1383C>T p.G461G Substitution - coding silent Prostate COSM248488 ZMYM6 c.2056T>C p.L686L Substitution - coding silent Prostate COSM1324451 CREBBP c.858G>T p.Q286H Substitution - Missense Ovary COSM3871582 KDM5A c.2155C>T p.R719C Substitution - Missense Skin COSM144572 PHF6 c.973T>C p.Y325H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM682848 RERE c.386A>T p.D129V Substitution - Missense Lung COSM5991324 MBD1 c.1446+2T>G p.? Unknown Prostate COSM4103003 SMARCB1 c.238G>A p.G80R Substitution - Missense Stomach COSM3900240 MYST3 c.4323C>T p.G1441G Substitution - coding silent Stomach COSM263088 PRDM16 c.1737C>T p.F579F Substitution - coding silent Large_intestine COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5019620 KMT2C c.1179C>T p.N393N Substitution - coding silent Soft_tissue COSM23057 MEN1 c.? p.H433P Substitution - Missense Small_intestine COSM4383947 TET2 c.4402_4403delAA p.K1468fs*9 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4162525 TRRAP c.9966G>T p.A3322A Substitution - coding silent Thyroid COSM3446222 PRMT3 c.412C>T p.L138F Substitution - Missense Skin COSM52947 IDH2 c.? p.R172? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4742145 ZBTB38 c.2377A>G p.N793D Substitution - Missense Large_intestine COSM3719752 TBL1XR1 c.628G>A p.V210I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5944383 ASXL1 c.1827delT p.G610fs*93 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM231554 DNMT3A c.1741T>C p.W581R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5575226 MGA c.8011G>C p.D2671H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1200987 CHD6 c.464G>A p.R155Q Substitution - Missense Large_intestine COSM5149689 CXXC1 c.414G>A p.S138S Substitution - coding silent Large_intestine COSM1075353 ARID1B c.4492G>A p.V1498I Substitution - Missense Endometrium COSM4717499 PRDM2 c.2046G>T p.E682D Substitution - Missense Large_intestine COSM212800 BRD7 c.1352C>A p.T451K Substitution - Missense Breast COSM5878996 TET2 c.2839_2840insAA p.H949fs*5 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1173240 CDYL c.847G>A p.G283R Substitution - Missense Oesophagus COSM5944513 TET2 c.3473_3474insA p.A1159fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4000327 CBX4 c.871T>C p.S291P Substitution - Missense Upper_aerodigestive_tract COSM3861740 BAG6 c.3009T>G p.P1003P Substitution - coding silent Stomach COSM119800 MECOM c.860A>T p.H287L Substitution - Missense Ovary COSM6009466 SETDB1 c.434C>T p.P145L Substitution - Missense Skin COSM357694 ARID1A c.5329G>A p.E1777K Substitution - Missense Lung COSM3636529 KMT2C c.2417C>T p.S806F Substitution - Missense Skin COSM5993902 BAZ2B c.909A>G p.L303L Substitution - coding silent Prostate COSM5365087 DOT1L c.1983C>A p.S661S Substitution - coding silent Large_intestine COSM1189256 SETD1A c.3532G>T p.A1178S Substitution - Missense Lung COSM262334 NCOA6 c.4624G>T p.E1542* Substitution - Nonsense Large_intestine COSM1081871 PHIP c.1068G>T p.E356D Substitution - Missense Endometrium COSM3970512 SMCHD1 c.1505A>G p.H502R Substitution - Missense Central_nervous_system COSM999628 KDM4B c.729G>A p.M243I Substitution - Missense Endometrium COSM4944111 SMYD3 c.1087G>A p.D363N Substitution - Missense Liver COSM939548 KDM5A c.984T>C p.P328P Substitution - coding silent Endometrium COSM398810 BRPF1 c.2925A>C p.L975F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5003189 ZMYND11 c.1190C>T p.S397L Substitution - Missense Pancreas COSM5802087 ACTB c.1063_1064insCCAGCAGAT p.M355>TSRL Complex - insertion inframe Breast COSM5368562 TRRAP c.9319G>A p.E3107K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1333464 PRDM2 c.4936delG p.P1648fs*14 Deletion - Frameshift Large_intestine COSM111693 KAT6B c.3289_3291delGAA p.E1097delE Deletion - In frame Soft_tissue COSM51442 ARID1A c.5566C>T p.Q1856* Substitution - Nonsense Skin COSM3487752 EYA3 c.553C>T p.P185S Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM348185 TDRD1 c.3010G>A p.D1004N Substitution - Missense Lung COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5994068 MBD5 c.340A>G p.K114E Substitution - Missense Prostate COSM6002312 SRCAP c.1449G>T p.V483V Substitution - coding silent Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM43351 MEN1 c.207_207delC p.D70fs*49 Deletion - Frameshift Parathyroid COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3710341 HDGF c.364G>A p.D122N Substitution - Missense Upper_aerodigestive_tract COSM5796979 CAMKMT c.381C>T p.I127I Substitution - coding silent Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM26905 INOC1 c.3498-1G>A p.? Unknown Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4170674 CHD8 c.4935T>G p.Y1645* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1677507 ZMYM5 c.937T>G p.F313V Substitution - Missense Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4896387 TDRD5 c.1392C>T p.L464L Substitution - coding silent Skin COSM3706556 MGA c.3832A>G p.N1278D Substitution - Missense Liver COSM3991126 SP110 c.1235T>C p.V412A Substitution - Missense Kidney COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM5944532 EZH2 c.2210_2211insTTTCGAA p.A738fs*>17 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4428176 AKAP1 c.395A>G p.E132G Substitution - Missense Oesophagus COSM244265 EP400 c.6119C>T p.P2040L Substitution - Missense Large_intestine COSM3772034 CDYL2 c.1149C>T p.Y383Y Substitution - coding silent Pancreas COSM5940940 SMARCA4 c.2439-6C>T p.? Unknown Skin COSM4314386 SMEK2 c.516T>C p.I172I Substitution - coding silent Upper_aerodigestive_tract COSM3560207 SCML2 c.1542C>T p.L514L Substitution - coding silent Skin COSM3291714 CHD6 c.2316C>T p.D772D Substitution - coding silent Large_intestine COSM379302 KAT2B c.2368G>A p.A790T Substitution - Missense Lung COSM4454990 SFMBT2 c.632A>T p.N211I Substitution - Missense Skin COSM1118765 SCML2 c.483G>T p.K161N Substitution - Missense Endometrium COSM478242 ZMYND8 c.379C>A p.P127T Substitution - Missense Kidney COSM4092250 SP140 c.314C>T p.T105I Substitution - Missense Stomach COSM895839 POGZ c.1426C>T p.R476W Substitution - Missense Endometrium COSM42070 TET2 c.5650A>G p.T1884A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4663262 ARID1B c.6475C>T p.H2159Y Substitution - Missense Large_intestine COSM5019110 MECOM c.2472G>A p.S824S Substitution - coding silent Soft_tissue COSM4590631 GLYR1 c.1377C>G p.H459Q Substitution - Missense Upper_aerodigestive_tract COSM3926685 TAF1L c.1509C>T p.I503I Substitution - coding silent Skin COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Endometrium COSM5595578 ZBTB4 c.2303C>T p.P768L Substitution - Missense Skin COSM4633905 DMAP1 c.228T>C p.T76T Substitution - coding silent Large_intestine COSM456018 KIAA2026_ENST00000399933 c.3983C>T p.T1328I Substitution - Missense Breast COSM4031508 PRDM16 c.688T>C p.F230L Substitution - Missense Stomach COSM1664344 SRCAP c.3431C>T p.A1144V Substitution - Missense Kidney COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Biliary_tract COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM35821 TRIM24 c.1172G>A p.R391H Substitution - Missense Central_nervous_system COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51444 ARID1A c.1185T>A p.Y395* Substitution - Nonsense Ovary COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM100084 KMT2C c.13630C>T p.R4544W Substitution - Missense Large_intestine COSM88753 CREBBP c.4506G>T p.W1502C Substitution - Missense Liver COSM110713 ASXL1 c.2110G>A p.G704R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41706 TET2 c.4354C>T p.R1452* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM181884 RBBP7 c.382C>T p.R128C Substitution - Missense Stomach COSM215749 SMARCA4 c.2461G>A p.E821K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM234232 EYA1 c.264C>A p.Y88* Substitution - Nonsense Skin COSM243736 CLOCK c.890T>C p.I297T Substitution - Missense Prostate COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Kidney COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Large_intestine COSM231558 DNMT3A c.1741T>A p.W581R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM299892 PRDM1 c.1893G>A p.K631K Substitution - coding silent Large_intestine COSM309525 BRDT c.1280A>G p.Q427R Substitution - Missense Lung COSM333340 ASH1L c.3911C>T p.T1304I Substitution - Missense Lung COSM330934 ALKBH1 c.919G>T p.A307S Substitution - Missense Lung COSM396785 KMT2C c.2674G>A p.G892R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM429692 KDM2A c.2987G>A p.S996N Substitution - Missense Breast COSM455760 SMARCA2 c.2857G>A p.E953K Substitution - Missense Breast COSM461812 EHMT2 c.3476G>T p.W1159L Substitution - Missense Cervix COSM478639 AIRE c.899C>T p.A300V Substitution - Missense Kidney COSM983301 BPTF c.2234_2236delATG p.D746delD Deletion - In frame Endometrium COSM746390 STK31 c.151-2A>G p.? Unknown Lung COSM750797 NCOA2 c.415G>T p.V139L Substitution - Missense Lung COSM729156 PHC3 c.899A>C p.K300T Substitution - Missense Lung COSM729790 ACTL6A c.398G>T p.R133I Substitution - Missense Lung COSM907726 ARID1A c.4336C>T p.R1446* Substitution - Nonsense Endometrium COSM931212 SUV420H1 c.1532G>T p.R511I Substitution - Missense Endometrium COSM1073185 L3MBTL3 c.2091C>T p.V697V Substitution - coding silent Endometrium COSM961341 INOC1 c.4140G>A p.M1380I Substitution - Missense Endometrium COSM970044 SETD1A c.1992G>A p.E664E Substitution - coding silent Endometrium COSM1088167 HDAC9 c.1352G>A p.R451Q Substitution - Missense Prostate COSM1088803 CBX3 c.73G>A p.A25T Substitution - Missense Endometrium COSM1106293 GTF3C4 c.697C>A p.L233I Substitution - Missense Endometrium COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1194952 HDAC2 c.1276G>T p.D426Y Substitution - Missense Lung COSM1258320 MUM1 c.741A>C p.K247N Substitution - Missense Stomach COSM1211717 KDM2B c.1114C>T p.R372C Substitution - Missense Large_intestine COSM1221414 POGZ c.211G>A p.V71I Substitution - Missense Large_intestine COSM1605670 KDM2B c.2362C>A p.P788T Substitution - Missense Liver COSM1315670 ZMYM3 c.754G>A p.E252K Substitution - Missense Urinary_tract COSM1387351 CHD3 c.1612delC p.R540fs*16 Deletion - Frameshift Large_intestine COSM1381160 SMYD4 c.2326G>C p.G776R Substitution - Missense Large_intestine COSM1424597 SFMBT1 c.1899C>T p.T633T Substitution - coding silent Large_intestine COSM1453158 TRRAP c.3406C>T p.P1136S Substitution - Missense Large_intestine COSM1368991 CHD8 c.4342C>T p.R1448W Substitution - Missense Breast COSM1363143 BAZ2A_ENST00000379441 c.356_357insG p.Q120fs*20 Insertion - Frameshift Large_intestine COSM1363350 MBD6 c.2338delG p.G782fs*13 Deletion - Frameshift Stomach COSM1567725 PRDM9 c.2436C>G p.G812G Substitution - coding silent Large_intestine COSM1566684 PBRM1 c.2211A>G p.T737T Substitution - coding silent Soft_tissue COSM1577231 MEN1 c.617_624delGCAGGGGC p.R206fs*9 Deletion - Frameshift Parathyroid COSM1627023 PRDM16 c.2169G>T p.S723S Substitution - coding silent Liver COSM1673697 KMT2C c.12955G>A p.E4319K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1645107 UHRF1 c.505G>A p.V169M Substitution - Missense Salivary_gland COSM1665658 PBRM1 c.3751_3753delGAA p.E1251delE Deletion - In frame Kidney COSM1726533 CHD8 c.6262T>G p.S2088A Substitution - Missense Liver COSM1731946 KMT2D c.6512C>G p.T2171S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1977987 PRDM10 c.3155G>A p.R1052H Substitution - Missense Large_intestine COSM1992290 APOBEC1 c.184G>A p.V62M Substitution - Missense Large_intestine COSM2007300 KMT2D c.2601C>T p.T867T Substitution - coding silent Large_intestine COSM2007479 KMT2D c.231delC p.H77fs*53 Deletion - Frameshift Large_intestine COSM2023488 PWWP2B c.1276G>A p.D426N Substitution - Missense Large_intestine COSM2078119 PRDM16 c.451C>G p.L151V Substitution - Missense Large_intestine COSM2154660 TDRD10 c.574G>A p.V192I Substitution - Missense Central_nervous_system COSM2758183 NCOA6 c.2864A>C p.N955T Substitution - Missense Liver COSM2828730 SETD5_ENST00000402198 c.261A>G p.E87E Substitution - coding silent Upper_aerodigestive_tract COSM2834924 CHD9 c.6771G>A p.S2257S Substitution - coding silent Prostate COSM3010245 PHF17 c.942G>A p.V314V Substitution - coding silent Large_intestine COSM3017620 SHPRH c.2180G>T p.C727F Substitution - Missense Central_nervous_system COSM3108836 GTF3C1 c.5163C>T p.S1721S Substitution - coding silent Large_intestine COSM3236491 HCFC1 c.4127C>T p.T1376M Substitution - Missense Large_intestine COSM3262459 KMT2C c.12775G>A p.E4259K Substitution - Missense Endometrium COSM3294794 EYA2 c.1073C>T p.S358L Substitution - Missense Large_intestine COSM3370624 NCOR1 c.4182A>T p.S1394S Substitution - coding silent Thyroid COSM3376328 MBD6 c.2446G>A p.E816K Substitution - Missense Pancreas COSM3382278 CHD7 c.3032A>G p.Y1011C Substitution - Missense Pancreas COSM3508209 GTF3C1 c.5054C>T p.P1685L Substitution - Missense Skin COSM3508976 SETD1A c.1303C>T p.P435S Substitution - Missense Skin COSM3458534 ATF7IP c.1473C>T p.A491A Substitution - coding silent Skin COSM3463390 SMARCC2 c.1724T>C p.F575S Substitution - Missense Skin COSM3615196 PRDM9 c.523G>A p.E175K Substitution - Missense Skin COSM3581881 MSH6 c.2604G>T p.M868I Substitution - Missense Skin COSM3656835 TAF1L c.4428G>A p.A1476A Substitution - coding silent Skin COSM3674878 KMT2C c.5614C>T p.Q1872* Substitution - Nonsense Prostate COSM3686842 SFMBT2 c.2351C>T p.A784V Substitution - Missense Large_intestine COSM3701887 ATRX c.1996C>T p.R666* Substitution - Nonsense Central_nervous_system COSM3712783 SMARCA4 c.4005G>A p.P1335P Substitution - coding silent Upper_aerodigestive_tract COSM3755305 RAI1 c.837G>A p.Q279Q Substitution - coding silent Large_intestine COSM3799904 BRWD1 c.3535C>A p.L1179I Substitution - Missense Urinary_tract COSM3845312 TAF1 c.1616G>T p.R539L Substitution - Missense Breast COSM3916387 PHF7 c.433C>T p.R145C Substitution - Missense Large_intestine COSM3964000 DNMT3L c.646G>T p.G216* Substitution - Nonsense Lung COSM3962517 SP100 c.1675T>C p.L559L Substitution - coding silent Lung COSM3963629 ZMYND8 c.3431-3C>T p.? Unknown Lung COSM3970227 SMARCD2 c.797G>A p.G266E Substitution - Missense Central_nervous_system COSM3980474 PHRF1 c.1913C>A p.T638N Substitution - Missense Ovary COSM4031020 ARID1A c.5125-1G>A p.? Unknown Thyroid COSM4003294 BRD8 c.1587T>C p.V529V Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3988553 SETD6 c.86G>T p.C29F Substitution - Missense Kidney COSM4098465 CHD6 c.1908G>A p.E636E Substitution - coding silent Stomach COSM4111156 ATRX c.2239A>G p.S747G Substitution - Missense Stomach COSM4098975 NCOA5 c.570A>G p.R190R Substitution - coding silent Stomach COSM4113815 HDAC11 c.301C>A p.L101I Substitution - Missense Stomach COSM4100195 DIDO1 c.2534G>A p.R845H Substitution - Missense Stomach COSM4169332 CHD6 c.8078C>T p.P2693L Substitution - Missense Breast COSM4383837 TET2 c.2269delC p.L757fs*56 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4383905 TET2 c.3523A>T p.I1175F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4440859 SMYD4 c.1696G>A p.G566R Substitution - Missense Large_intestine COSM4444424 BAZ2A_ENST00000379441 c.2168G>A p.R723Q Substitution - Missense Large_intestine COSM4516090 MBD5 c.1570_1571CC>TT p.P524L Substitution - Missense Skin COSM4437111 BPTF c.8233A>T p.I2745F Substitution - Missense Oesophagus COSM4537813 SFMBT2 c.2466G>A p.L822L Substitution - coding silent Skin COSM4449860 NCOR1 c.3497_3500delCTCA p.T1166fs*17 Deletion - Frameshift Skin COSM4723002 RTF1 c.529delA p.K178fs*4 Deletion - Frameshift Large_intestine COSM4713962 PHF19 c.1458G>T p.R486R Substitution - coding silent Large_intestine COSM4665213 BAZ1B c.773G>A p.R258Q Substitution - Missense Large_intestine COSM4677505 DIDO1 c.4407G>A p.T1469T Substitution - coding silent Large_intestine COSM4606933 TBL1XR1 c.785T>C p.L262S Substitution - Missense Adrenal_gland COSM4770299 PHF23 c.364C>G p.P122A Substitution - Missense Adrenal_gland COSM4611777 ADNP c.3047_3048insA p.A1017fs*6 Insertion - Frameshift Large_intestine COSM4766064 PBRM1 c.469G>A p.A157T Substitution - Missense Soft_tissue COSM4747060 EP300 c.7012_7014delCAC p.H2339delH Deletion - In frame Stomach COSM4793161 SETD8 c.724G>A p.V242M Substitution - Missense Liver COSM4797923 TCF20 c.4555G>A p.V1519M Substitution - Missense Liver COSM4827600 DUSP1 c.609G>C p.L203F Substitution - Missense Cervix COSM4831307 PYGO1 c.203C>A p.A68D Substitution - Missense Cervix COSM4855262 BRD3 c.1713C>A p.P571P Substitution - coding silent Cervix COSM4855569 CREBBP c.386C>A p.S129* Substitution - Nonsense Cervix COSM4825128 SFMBT1 c.2487C>T p.L829L Substitution - coding silent Cervix COSM4952964 MTA2 c.685A>G p.I229V Substitution - Missense Liver COSM4966033 PSIP1 c.858G>A p.K286K Substitution - coding silent Pancreas COSM4992715 DAXX c.1420C>T p.Q474* Substitution - Nonsense Skin COSM4978996 EP400 c.5577C>G p.F1859L Substitution - Missense Oesophagus COSM5035985 MGA c.8096G>C p.R2699P Substitution - Missense Oesophagus COSM5059332 HDAC11 c.284_285insC p.V98fs*70 Insertion - Frameshift Stomach COSM5056194 CARM1 c.439G>A p.V147M Substitution - Missense Stomach COSM5405697 PHF3 c.3976C>G p.L1326V Substitution - Missense Skin COSM5410490 SET c.64G>A p.E22K Substitution - Missense Skin COSM5409537 ASH2L c.1680G>A p.G560G Substitution - coding silent Skin COSM5373883 KDM4D c.766G>A p.E256K Substitution - Missense Skin COSM5498604 CTCF c.713C>T p.S238L Substitution - Missense Biliary_tract COSM5486992 ATRX c.2402C>G p.S801C Substitution - Missense Large_intestine COSM5487164 ATRX c.4081A>G p.K1361E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5454344 RTF1 c.1421G>A p.C474Y Substitution - Missense Large_intestine COSM5757073 BAZ1B c.1337G>A p.G446D Substitution - Missense Large_intestine COSM5715409 DOT1L c.2024G>A p.G675E Substitution - Missense Skin COSM5579458 RERE c.1059T>G p.C353W Substitution - Missense Skin COSM5594268 BPTF c.3170C>T p.S1057L Substitution - Missense Skin COSM5657335 DOT1L c.1006G>T p.E336* Substitution - Nonsense Soft_tissue COSM5752430 ARID1A c.5350_5363del14 p.N1784fs*13 Deletion - Frameshift Breast COSM5811055 SUZ12 c.592-2A>T p.? Unknown Liver COSM5810166 HCFC2 c.2269T>A p.S757T Substitution - Missense Liver COSM5944226 DNMT3A c.1779delG p.L594fs*57 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5961697 SMEK2 c.993T>C p.R331R Substitution - coding silent Adrenal_gland COSM5954167 KDM5C c.294C>T p.S98S Substitution - coding silent Upper_aerodigestive_tract COSM5975082 WHSC1 c.3032C>T p.S1011L Substitution - Missense Upper_aerodigestive_tract COSM6018470 HDAC6 c.1392G>A p.W464* Substitution - Nonsense Skin COSM1738141 EZH2 c.? p.D664A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM23038 MEN1 c.? p.R108* Substitution - Nonsense Parathyroid COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM42004 TET2 c.5603A>G p.H1868R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Biliary_tract COSM86970 IKZF1 c.? p.E504fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4167269 TET2 c.? p.E1320fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM307188 BAP1 c.1_375del375 p.M1_E125del Deletion - In frame Pleura COSM1753358 ATXN7 c.1501G>C p.E501Q Substitution - Missense Urinary_tract COSM5642589 BRD9 c.924C>T p.D308D Substitution - coding silent Prostate COSM36248 IDH1 c.? p.R132? Substitution - Missense Bone COSM96522 TET2 c.3202C>T p.Q1068* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM254834 NCOA7 c.1322C>G p.S441C Substitution - Missense Urinary_tract COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM4767397 ATRX c.4535G>A p.R1512H Substitution - Missense Adrenal_gland COSM86082 KMT2C c.2418C>G p.S806S Substitution - coding silent Central_nervous_system COSM471655 SETD1A c.3862C>A p.R1288S Substitution - Missense Kidney COSM457763 PHF8 c.57C>T p.F19F Substitution - coding silent Breast COSM5945519 KDM6A c.3973G>T p.E1325* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1447017 MLL5 c.3755+2T>C p.? Unknown Large_intestine COSM5437356 SMARCC1 c.2407G>A p.E803K Substitution - Missense Oesophagus COSM1355397 MTA2 c.307C>T p.R103W Substitution - Missense Large_intestine COSM5743849 KAT2A c.2348G>A p.R783Q Substitution - Missense Small_intestine COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Soft_tissue COSM4985365 FMR1 c.433G>T p.A145S Substitution - Missense Soft_tissue COSM5567497 AP001011.3_ENST00000320876 c.4900T>C p.S1634P Substitution - Missense Prostate COSM5987587 BRDT c.1502C>G p.S501C Substitution - Missense Salivary_gland COSM3919746 NSD1 c.5841C>T p.F1947F Substitution - coding silent Skin COSM5061840 TDRD6 c.3397C>T p.P1133S Substitution - Missense Stomach COSM28309 ALKBH1 c.1059C>T p.F353F Substitution - coding silent Skin COSM4139829 ZBTB4 c.239C>T p.T80I Substitution - Missense Ovary COSM3501014 INOC1 c.898C>T p.R300C Substitution - Missense Skin COSM2153801 KMT2C c.13078T>C p.W4360R Substitution - Missense Central_nervous_system COSM1128024 JMJD1C c.6894G>C p.E2298D Substitution - Missense Prostate COSM438521 SMARCA4 c.4702G>A p.D1568N Substitution - Missense Breast COSM3685189 ACTB c.124-1G>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3731429 SMARCC2 c.3128_3129insC p.G1044fs*33 Insertion - Frameshift Large_intestine COSM4596916 CHD7 c.3967G>T p.E1323* Substitution - Nonsense Upper_aerodigestive_tract COSM293785 SETBP1 c.453G>A p.T151T Substitution - coding silent Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM4665058 BAHD1 c.173G>A p.R58H Substitution - Missense Large_intestine COSM1179107 KMT2C c.851G>A p.R284Q Substitution - Missense Upper_aerodigestive_tract COSM402665 KDM3B c.4619T>C p.M1540T Substitution - Missense Lung COSM414504 ARID1A c.5047G>C p.E1683Q Substitution - Missense Urinary_tract COSM4663919 ASXL3 c.2533G>A p.G845R Substitution - Missense Large_intestine COSM4671986 CHD3 c.5338G>A p.A1780T Substitution - Missense Large_intestine COSM1073486 EYA4 c.979G>A p.D327N Substitution - Missense Endometrium COSM1108224 TAF1L c.3755G>A p.R1252Q Substitution - Missense Biliary_tract COSM4474979 BRD8 c.1737C>T p.S579S Substitution - coding silent Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3720607 TET2 c.2715_2716insA p.M906fs*18 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3887205 PYGO1 c.1004C>T p.S335L Substitution - Missense Skin COSM293638 GABRG1 c.792delT p.F264fs*3 Deletion - Frameshift Skin COSM4900622 NIPBL c.7056C>T p.F2352F Substitution - coding silent Skin COSM1686226 CHD2 c.4757C>T p.S1586F Substitution - Missense Skin COSM1063515 HDAC3 c.132G>T p.K44N Substitution - Missense Endometrium COSM4949463 TBL1XR1 c.1109_1121del13 p.D370fs*5 Deletion - Frameshift Liver COSM4383632 IDH1 c.791G>A p.G264D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1448968 EZH2 c.2139A>G p.I713M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1730221 STK31 c.2149-1G>T p.? Unknown Liver COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4612054 SRCAP c.8579delG p.R2862fs*24 Deletion - Frameshift Large_intestine COSM127915 EYA2 c.1053C>T p.S351S Substitution - coding silent Upper_aerodigestive_tract COSM41294 IDH1 c.? p.R132C Substitution - Missense Bone COSM85916 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM466082 BTAF1 c.427G>A p.A143T Substitution - Missense Kidney COSM2966588 HDAC6 c.1308G>T p.E436D Substitution - Missense Large_intestine COSM5028392 BAHCC1 c.7563C>T p.V2521V Substitution - coding silent Breast COSM87012 DNMT3A c.1903C>T p.R635W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4416984 DOT1L c.3391-5C>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3475161 LMNA c.1049C>T p.A350V Substitution - Missense Skin COSM5564627 PHIP c.4910G>C p.R1637T Substitution - Missense Prostate COSM5969141 SMYD2 c.156C>T p.C52C Substitution - coding silent Upper_aerodigestive_tract COSM1166639 EZH2 c.2083T>C p.S695P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5929583 IDH2 c.253G>A p.G85R Substitution - Missense Skin COSM4639778 KDM2A c.1926C>T p.C642C Substitution - coding silent Large_intestine COSM5391814 ASXL1 c.4218G>A p.M1406I Substitution - Missense Skin COSM187128 ASH2L c.1249C>T p.R417W Substitution - Missense Endometrium COSM1412248 NCOA3 c.930G>A p.G310G Substitution - coding silent Large_intestine COSM43414 TET2 c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5649167 ACTR6 c.556G>C p.E186Q Substitution - Missense Oesophagus COSM4987674 KIAA2026_ENST00000399933 c.4166C>T p.T1389I Substitution - Missense Soft_tissue COSM367309 ZGPAT c.303A>T p.S101S Substitution - coding silent Lung COSM5410987 TAF1L c.303G>A p.R101R Substitution - coding silent Skin COSM4162024 KMT2C c.946A>T p.T316S Substitution - Missense Bone COSM3766327 DPF1 c.992-4G>A p.? Unknown Large_intestine COSM3661808 NIPBL c.819A>T p.R273S Substitution - Missense Liver COSM1121573 KDM6A c.502G>T p.E168* Substitution - Nonsense Endometrium COSM1713333 DNMT3B c.1447G>A p.E483K Substitution - Missense Skin COSM1730343 CDYL c.1439A>T p.Q480L Substitution - Missense Liver COSM139284 RAD54L c.892G>A p.G298R Substitution - Missense Skin COSM3668735 KDM6A c.948A>T p.A316A Substitution - coding silent Liver COSM4037220 EED c.337T>C p.F113L Substitution - Missense Stomach COSM2739044 NCOR1 c.1584delA p.E529fs*26 Deletion - Frameshift Prostate COSM4739145 UHRF2 c.673A>G p.N225D Substitution - Missense Large_intestine COSM4510623 SRCAP c.8438C>T p.P2813L Substitution - Missense Skin COSM926920 ALKBH3 c.750G>A p.A250A Substitution - coding silent Oesophagus COSM1108237 TAF1L c.2377C>T p.R793W Substitution - Missense Skin COSM4457072 TAF3 c.1031C>T p.P344L Substitution - Missense Skin COSM5064767 PHF8 c.1270G>A p.V424M Substitution - Missense Stomach COSM5584508 ASXL3 c.2650G>A p.E884K Substitution - Missense Skin COSM3523580 BAHCC1 c.1411C>T p.L471F Substitution - Missense Skin COSM932708 EED c.319G>A p.E107K Substitution - Missense Endometrium COSM3396295 SETBP1 c.3032C>A p.S1011* Substitution - Nonsense Prostate COSM3457112 HNF1A c.1599G>A p.L533L Substitution - coding silent Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM135876 NCOA6 c.1390C>T p.P464S Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1296224 ARID1A c.3598C>T p.Q1200* Substitution - Nonsense Endometrium COSM1675949 RAG2 c.704G>T p.R235I Substitution - Missense Large_intestine COSM4151536 CHD7 c.1451G>A p.G484D Substitution - Missense Ovary COSM137420 PRDM9 c.1453G>A p.G485R Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM373604 SETBP1 c.3402T>A p.P1134P Substitution - coding silent Lung COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM95589 CREBBP c.4735C>T p.Q1579* Substitution - Nonsense Ovary COSM1315587 SMC1A c.1444G>T p.E482* Substitution - Nonsense Urinary_tract COSM1479000 CTCF c.1689A>T p.T563T Substitution - coding silent Breast COSM4044329 CHD4 c.3530G>A p.R1177H Substitution - Missense Stomach COSM893292 PRMT6 c.428A>C p.E143A Substitution - Missense Endometrium COSM1103 SMARCB1 c.?_?del? p.?del Deletion - In frame Soft_tissue COSM1041699 FXR1 c.1421G>A p.S474N Substitution - Missense Endometrium COSM3900234 MYST3 c.5610C>G p.H1870Q Substitution - Missense Stomach COSM3615195 PRDM9 c.516G>A p.R172R Substitution - coding silent Skin COSM4456116 TBL1XR1 c.1257_1258CT>TC p.F420L Substitution - Missense Skin COSM307762 TET2 c.? p.Y867H Substitution - Missense Skin COSM2154631 EPC1 c.1392-4A>C p.? Unknown Central_nervous_system COSM745639 HDAC9 c.448C>A p.L150I Substitution - Missense Lung COSM3720060 SMEK1 c.1224T>A p.D408E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5057313 CHD6 c.1482C>T p.I494I Substitution - coding silent Stomach COSM4991537 EP300 c.6950G>A p.R2317Q Substitution - Missense Skin COSM5717798 TP53BP1 c.4050C>T p.A1350A Substitution - coding silent Skin COSM75922 PHF21B c.838G>A p.A280T Substitution - Missense Ovary COSM1718169 BRD8 c.963T>G p.A321A Substitution - coding silent Skin COSM1579674 SMARCD3 c.27delC p.T10fs*125 Deletion - Frameshift Central_nervous_system COSM5791377 CHD3 c.1780G>T p.D594Y Substitution - Missense Breast COSM1363039 SMARCC2 c.3128delC p.P1043fs*18 Deletion - Frameshift Large_intestine COSM290132 PRDM9 c.1843C>T p.R615W Substitution - Missense Endometrium COSM371480 JHDM1D c.2193G>T p.E731D Substitution - Missense Lung COSM5626066 MTA1 c.1899C>T p.R633R Substitution - coding silent Oesophagus COSM1756932 NCOR1 c.2080C>T p.R694* Substitution - Nonsense Urinary_tract COSM3656487 SMARCA2 c.501C>T p.P167P Substitution - coding silent Skin COSM1312274 TDRD6 c.6177G>C p.L2059F Substitution - Missense Urinary_tract COSM329152 ASXL1 c.163T>A p.C55S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4073754 DNMT1 c.1282G>A p.E428K Substitution - Missense Stomach COSM116394 PHF19 c.286G>A p.E96K Substitution - Missense Ovary COSM249226 SETDB2 c.365T>A p.L122H Substitution - Missense Kidney COSM5063184 WHSC1L1 c.697A>G p.T233A Substitution - Missense Stomach COSM1716782 TET2 c.? p.S1303R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3629177 PHF3 c.2067C>T p.F689F Substitution - coding silent Skin COSM4467943 KMT2D c.14356C>T p.L4786L Substitution - coding silent Skin COSM1658954 SMARCA2 c.2564G>A p.R855Q Substitution - Missense Large_intestine COSM1677420 KDM2B c.752G>A p.R251Q Substitution - Missense Large_intestine COSM5045015 KDM6A c.385-?_1329+?del p.? Unknown Central_nervous_system COSM23398 MEN1 c.249_252delGTCT p.I85fs*33 Deletion - Frameshift Pancreas COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM414030 GATAD2B c.112G>A p.E38K Substitution - Missense Urinary_tract COSM364443 MBD1 c.1700G>T p.G567V Substitution - Missense Lung COSM4411435 CBX7 c.214_216AGA>G p.R72fs*43 Complex - frameshift Kidney COSM5711703 KDM5C c.824A>G p.E275G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM233560 TDRD6 c.4129C>A p.Q1377K Substitution - Missense Skin COSM5358181 KMT2C c.6519A>G p.P2173P Substitution - coding silent Large_intestine COSM985967 SIRT7 c.616C>T p.R206W Substitution - Missense Endometrium COSM5748406 MEAF6 c.26C>T p.P9L Substitution - Missense Pancreas COSM4170110 TET2 c.3109_3110insC p.K1038fs*5 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1219401 PBRM1 c.3179A>G p.E1060G Substitution - Missense Large_intestine COSM5193634 PHF14 c.1852G>T p.D618Y Substitution - Missense Soft_tissue COSM1132299 KDM6A c.2960A>G p.K987R Substitution - Missense Prostate COSM5577796 TDRD5 c.2533T>A p.L845M Substitution - Missense Skin COSM4989769 RERE c.2381C>T p.P794L Substitution - Missense Large_intestine COSM2001150 EP400 c.7877C>T p.A2626V Substitution - Missense Large_intestine COSM5060396 CLOCK c.1391G>A p.R464K Substitution - Missense Stomach COSM5559117 MBD6 c.800T>G p.L267* Substitution - Nonsense Prostate COSM417046 SRCAP c.1096G>A p.E366K Substitution - Missense Urinary_tract COSM5783395 BRWD3 c.2715A>T p.R905S Substitution - Missense Breast COSM3741641 EPC1 c.1432T>C p.F478L Substitution - Missense Liver COSM198796 PHF2 c.1468delA p.K492fs*6 Deletion - Frameshift Prostate COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3850169 PHF15 c.17G>A p.R6Q Substitution - Missense Stomach COSM255012 KDM6A c.3582G>A p.W1194* Substitution - Nonsense Urinary_tract COSM3479281 TDRD5 c.768A>T p.E256D Substitution - Missense Skin COSM3113583 SETD1A c.4602C>T p.S1534S Substitution - coding silent Oesophagus COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1303429 KDM6B c.644C>T p.S215L Substitution - Missense Urinary_tract COSM5715358 ARID1A c.2952delG p.A985fs*54 Deletion - Frameshift Breast COSM3392650 INTS12 c.522T>G p.N174K Substitution - Missense Pancreas COSM1464308 TDRD7 c.1374G>T p.M458I Substitution - Missense Large_intestine COSM4501826 KMT2D c.5181C>T p.S1727S Substitution - coding silent Skin COSM5574229 TET2 c.1918C>T p.Q640* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1088646 STK31 c.1899G>T p.K633N Substitution - Missense Endometrium COSM5768226 MBTD1 c.732+7T>C p.? Unknown Breast COSM730687 SMARCC1 c.1926G>C p.W642C Substitution - Missense Lung COSM3500898 BAHD1 c.863C>T p.P288L Substitution - Missense Skin COSM4609747 NCOA3 c.916_917ins34 p.L307fs*2 Insertion - Frameshift Adrenal_gland COSM4034790 MTA2 c.1701G>A p.G567G Substitution - coding silent Stomach COSM1448536 JHDM1D c.2748delA p.G917fs*15 Deletion - Frameshift Large_intestine COSM96369 BAP1 c.437+1G>T p.? Unknown Pleura COSM3514782 RAI1 c.4895C>T p.S1632F Substitution - Missense Skin COSM1448547 JHDM1D c.178G>T p.D60Y Substitution - Missense Large_intestine COSM385332 CARM1 c.1721C>T p.T574M Substitution - Missense Lung COSM1457696 CHD7 c.1947delA p.D652fs*59 Deletion - Frameshift Large_intestine COSM2035486 PHRF1 c.602G>A p.C201Y Substitution - Missense Large_intestine COSM5929582 IDH2 c.254G>A p.G85E Substitution - Missense Skin COSM4449990 SMARCA2 c.4073_4075delAAG p.E1359delE Deletion - In frame Skin COSM2145472 ERCC6 c.1596T>C p.D532D Substitution - coding silent Pancreas COSM4430851 GTF3C1 c.3979C>T p.P1327S Substitution - Missense Oesophagus COSM414578 ACTA1 c.541G>A p.D181N Substitution - Missense Urinary_tract COSM132978 ASXL1 c.? p.R965* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM403533 EHMT1 c.120G>A p.K40K Substitution - coding silent Lung COSM3663115 STK31 c.2729A>T p.D910V Substitution - Missense Liver COSM3996094 CHD7 c.771T>C p.H257H Substitution - coding silent Kidney COSM1625033 KIAA2026_ENST00000399933 c.4380A>G p.T1460T Substitution - coding silent Liver COSM955454 BAZ1A c.4438C>T p.R1480C Substitution - Missense Endometrium COSM3905146 GTF3C4 c.721A>T p.R241W Substitution - Missense Stomach COSM3385666 RBBP5 c.1166+7C>T p.? Unknown Pancreas COSM1017611 SP140_ENST00000392045 c.2088C>T p.C696C Substitution - coding silent Endometrium COSM5474614 SETD2 c.2490T>C p.D830D Substitution - coding silent Large_intestine COSM4592007 RAI1 c.841_843delCAG p.Q291delQ Deletion - In frame Upper_aerodigestive_tract COSM5630006 BAZ1A c.2358delG p.E788fs*3 Deletion - Frameshift Oesophagus COSM1665415 CHD2 c.3760delG p.A1254fs*6 Deletion - Frameshift Kidney COSM1093590 TRRAP c.2686G>A p.G896S Substitution - Missense Endometrium COSM5635866 MGA c.3974A>C p.H1325P Substitution - Missense Oesophagus COSM4525985 TAF3 c.1367G>A p.G456E Substitution - Missense Skin COSM5416276 CXXC1 c.1208G>A p.R403H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5621470 PCNA c.182G>A p.R61H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3632986 SND1 c.820C>G p.L274V Substitution - Missense Skin COSM327789 DNMT3B c.158C>T p.S53L Substitution - Missense Skin COSM4385115 ASXL1 c.2894_2896delGAG p.G967delG Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM3957391 GTF3C1 c.6117+1G>T p.? Unknown Lung COSM48859 BAP1 c.1153C>T p.R385* Substitution - Nonsense Eye COSM5711323 KDM4C c.2338G>T p.V780F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM482574 NSD1 c.5145A>G p.E1715E Substitution - coding silent Kidney COSM4904254 ASXL3 c.2829C>T p.V943V Substitution - coding silent Skin COSM5666632 BRD1 c.2576G>T p.S859I Substitution - Missense Soft_tissue COSM5945678 SETD2 c.1342A>G p.N448D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM39217 ZMYND8 c.2162T>G p.V721G Substitution - Missense Central_nervous_system COSM37029 EZH2 c.1937A>C p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM133038 EZH2 c.2035G>A p.V679M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4545190 NCOA6 c.3728G>A p.R1243K Substitution - Missense Skin COSM4801224 CREBBP c.681T>A p.P227P Substitution - coding silent Liver COSM1578843 KDM5C c.1726C>G p.L576V Substitution - Missense Meninges COSM4925665 KAT2A c.1077C>T p.F359F Substitution - coding silent Liver COSM117940 KAT6B c.6064C>T p.Q2022* Substitution - Nonsense Ovary COSM5802594 STK31 c.794_795delTT p.L265fs*5 Deletion - Frameshift Breast COSM1706555 RNF17 c.1082C>T p.S361F Substitution - Missense Skin COSM1223546 RERE c.1500G>T p.Q500H Substitution - Missense Large_intestine COSM3834735 MYST3 c.5085T>C p.P1695P Substitution - coding silent Breast COSM4140826 SETDB1 c.2587G>A p.V863M Substitution - Missense Kidney COSM3801561 PRDM2 c.3057A>C p.P1019P Substitution - coding silent Breast COSM5360492 DPF2 c.312G>T p.Q104H Substitution - Missense Large_intestine COSM1155825 ASXL1 c.2113_2113delG p.E705fs*20 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1707263 BAZ1A c.3274G>A p.E1092K Substitution - Missense Skin COSM3857055 CHD1 c.4540A>G p.N1514D Substitution - Missense Stomach COSM345222 BAZ2B c.3543G>C p.Q1181H Substitution - Missense Lung COSM3716680 EHMT1 c.2412+9C>T p.? Unknown Prostate COSM4849037 NSD1 c.2898G>A p.E966E Substitution - coding silent Cervix COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3669422 HDAC3 c.489G>A p.R163R Substitution - coding silent Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3751638 PWWP2B c.171C>T p.V57V Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3814487 CHD8 c.1031T>G p.V344G Substitution - Missense Breast COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4490920 SMARCA4 c.3713C>T p.S1238F Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5122177 LMNB2 c.1228C>T p.R410C Substitution - Missense Large_intestine COSM4772224 ORC1 c.1475G>T p.R492L Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1469440 ATRX c.6215A>C p.K2072T Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3307319 HDAC9 c.2872G>T p.G958* Substitution - Nonsense Large_intestine COSM306871 KMT2C c.12797_12799AAT>AAAT p.Q4266fs Complex Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM85096 KMT2C c.6005G>A p.G2002E Substitution - Missense Pancreas COSM4603312 EP400 c.8184_8185insCAG p.Q2748_T2749insQ Insertion - In frame Upper_aerodigestive_tract COSM1583085 DNMT3A c.1705_1716del12 p.P569_A572del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM1716576 BAP1 c.38-?_1890+?del p.? Unknown Pleura COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM4648552 CBX7 c.294G>T p.K98N Substitution - Missense Large_intestine COSM4973156 TDRD7 c.2855C>A p.S952Y Substitution - Missense Oesophagus COSM3723035 PHF2 c.2955T>C p.S985S Substitution - coding silent Lung COSM3411837 KMT2C c.2266G>A p.G756R Substitution - Missense Central_nervous_system COSM211536 ZMYND8 c.104G>C p.R35T Substitution - Missense Upper_aerodigestive_tract COSM3436128 SUV39H2 c.221G>A p.R74K Substitution - Missense Skin COSM5348218 SETD2 c.5048delA p.K1683fs*62 Deletion - Frameshift Liver COSM41848 TET2 c.? p.G1275E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM158615 DNMT3A c.2168delT p.L723fs*56 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM3829238 SHPRH c.40G>A p.D14N Substitution - Missense Breast COSM4517629 DHX30 c.385_386CC>TT p.P129F Substitution - Missense Skin COSM4705981 NCOR1 c.3325G>T p.E1109* Substitution - Nonsense Large_intestine COSM5553042 PHF15 c.643G>A p.E215K Substitution - Missense Prostate COSM3048313 SP140_ENST00000392045 c.448G>A p.D150N Substitution - Missense Large_intestine COSM5878998 TET2 c.2975_2976insT p.M993fs*16 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Large_intestine COSM5012610 HCFC2 c.2257A>G p.I753V Substitution - Missense Kidney COSM80582 SRCAP c.2970C>G p.V990V Substitution - coding silent Ovary COSM43461 SETD2 c.5842-?_6186+?del? p.? Unknown Kidney COSM97138 PRDM1 c.184-1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4059615 JMJD5 c.688G>A p.A230T Substitution - Missense Stomach COSM1088143 HDAC9 c.199G>A p.E67K Substitution - Missense Endometrium COSM39142 SMARCC2 c.985C>T p.R329C Substitution - Missense Central_nervous_system COSM22601 MEN1 c.802_803delTA p.Y268fs*1 Deletion - Frameshift Parathyroid COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM53277 TET2 c.3205_3205delA p.T1069fs*13 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM76667 TAF1 c.5199A>C p.E1733D Substitution - Missense Ovary COSM112121 PRDM2 c.2104_2105insCTC p.P703_A704insP Insertion - In frame Upper_aerodigestive_tract COSM116704 MBD4 c.1475G>C p.R492T Substitution - Missense Ovary COSM120035 CHD6 c.4709A>G p.Y1570C Substitution - Missense Ovary COSM122931 EZH2 c.542A>G p.Y181C Substitution - Missense Upper_aerodigestive_tract COSM139231 EP300 c.6907C>T p.L2303F Substitution - Missense Skin COSM149378 SETD2 c.1731G>A p.M577I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41706 TET2 c.4354C>T p.R1452* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM211638 TET2 c.2747_2748insA p.Q917fs*7 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM212103 BRD4 c.999G>C p.K333N Substitution - Missense Breast COSM217046 PHC1 c.1941_1953del13 p.E648fs*15 Deletion - Frameshift Liver COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Skin COSM255004 KDM6A c.3668G>A p.G1223D Substitution - Missense Urinary_tract COSM41850 TET2 c.1630C>T p.R544* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM263373 RNF2 c.817C>T p.R273* Substitution - Nonsense Large_intestine COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Large_intestine COSM341121 SMARCA4 c.1842C>T p.D614D Substitution - coding silent Lung COSM390652 TDRD6 c.1732G>A p.V578M Substitution - Missense Lung COSM438517 SMARCA4 c.1860C>T p.I620I Substitution - coding silent Breast COSM487368 TAF1L c.4735C>A p.H1579N Substitution - Missense Kidney COSM1600793 POGZ c.1945T>A p.C649S Substitution - Missense Liver COSM1600981 HDGF c.88-1_92delGATTGA p.? Unknown Liver COSM680963 ZMYM4 c.1037A>G p.K346R Substitution - Missense Lung COSM1018662 ATAD2B_ENST00000238789 c.1105G>A p.D369N Substitution - Missense Endometrium COSM745474 TRIM24 c.1989A>G p.S663S Substitution - coding silent Lung COSM710870 DOT1L c.159C>A p.L53L Substitution - coding silent Lung COSM739991 SIRT5 c.405C>T p.V135V Substitution - coding silent Upper_aerodigestive_tract COSM969254 GTF3C1 c.3530T>G p.I1177S Substitution - Missense Endometrium COSM1602492 RAD54L c.2243G>T p.*748L Nonstop extension Liver COSM1315836 ASXL1 c.2208_2209insCA p.V737fs*8 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1080977 PHF3 c.6086G>A p.R2029K Substitution - Missense Endometrium COSM1196510 PHF19 c.745G>T p.G249C Substitution - Missense Lung COSM1193963 NCOA3 c.3632A>T p.Q1211L Substitution - Missense Lung COSM1162748 BRD9 c.928A>T p.M310L Substitution - Missense Upper_aerodigestive_tract COSM1223039 RAG2 c.443G>A p.R148Q Substitution - Missense Large_intestine COSM1226799 SMARCD3 c.745C>T p.Q249* Substitution - Nonsense Large_intestine COSM1173274 MLL5 c.2275C>T p.R759C Substitution - Missense Oesophagus COSM1369655 BAZ1A c.1318_1319insG p.E440fs*4 Insertion - Frameshift Large_intestine COSM1378187 BRD7 c.1656G>A p.L552L Substitution - coding silent Large_intestine COSM1401270 HAT1 c.249G>A p.L83L Substitution - coding silent Large_intestine COSM1424475 PHF7 c.169G>A p.V57M Substitution - Missense Large_intestine COSM1348889 SFMBT2 c.1670C>T p.P557L Substitution - Missense Large_intestine COSM1363779 CHD4 c.218delA p.K73fs*129 Deletion - Frameshift Small_intestine COSM1355794 MEN1 c.1546delC p.R516fs*43 Deletion - Frameshift Large_intestine COSM1607641 BAZ1A c.2067G>T p.L689L Substitution - coding silent Liver COSM1623572 ATAD2 c.2213-15_2214del17 p.? Unknown Liver COSM1639808 ARID1A c.822delG p.G276fs*87 Deletion - Frameshift Upper_aerodigestive_tract COSM1684349 HNF1A c.864delG p.P291fs*51 Deletion - Frameshift Large_intestine COSM1658781 PRDM16 c.677-1G>T p.? Unknown Salivary_gland COSM1717602 KMT2D c.7390C>T p.R2464* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1942683 PHF11 c.913G>A p.D305N Substitution - Missense Large_intestine COSM2078222 PRDM16 c.693C>T p.R231R Substitution - coding silent Large_intestine COSM2183183 VPS72 c.954C>T p.I318I Substitution - coding silent Skin COSM2265205 ZMYM2 c.1328T>C p.M443T Substitution - Missense Large_intestine COSM2813349 CARM1 c.692T>C p.L231P Substitution - Missense Large_intestine COSM2859780 TRIM24 c.150C>G p.L50L Substitution - coding silent Bone COSM3017644 SHPRH c.1709G>T p.R570M Substitution - Missense Large_intestine COSM3075977 BRPF3 c.1935C>T p.S645S Substitution - coding silent Upper_aerodigestive_tract COSM3153276 L3MBTL2 c.1393delG p.S468fs*73 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3296314 EPC2 c.2205T>C p.N735N Substitution - coding silent Pancreas COSM3353121 TDRD6 c.4890A>C p.Q1630H Substitution - Missense Large_intestine COSM3363446 PRDM15 c.583C>T p.L195L Substitution - coding silent Kidney COSM3383233 KMT2A c.9895G>A p.A3299T Substitution - Missense Pancreas COSM3380608 SMARCC1 c.2051A>G p.Q684R Substitution - Missense Pancreas COSM3413592 TAF1L c.4899T>A p.L1633L Substitution - coding silent Central_nervous_system COSM3444013 KMT2A c.9625A>G p.T3209A Substitution - Missense Skin COSM3584445 KDM5D c.1762C>T p.P588S Substitution - Missense Skin COSM3672230 SRCAP c.4409C>A p.P1470Q Substitution - Missense Prostate COSM3666442 PHRF1 c.662C>T p.P221L Substitution - Missense Liver COSM3707811 ZMYND8 c.1879G>A p.E627K Substitution - Missense Liver COSM3752792 TRIM66 c.1397A>G p.H466R Substitution - Missense Upper_aerodigestive_tract COSM3783954 ARID1B c.6354G>A p.S2118S Substitution - coding silent Oesophagus COSM3940319 ZBTB38 c.2003T>A p.F668Y Substitution - Missense Oesophagus COSM3916386 BAP1 c.428G>A p.S143N Substitution - Missense Skin COSM3882235 BAZ1B c.2606G>A p.R869H Substitution - Missense Stomach COSM3891039 SETBP1 c.2657C>T p.S886L Substitution - Missense Skin COSM4020870 TRIM33 c.1143A>G p.L381L Substitution - coding silent Stomach COSM4023061 ASH1L c.2508G>A p.M836I Substitution - Missense Stomach COSM4023069 ASH1L c.711G>A p.P237P Substitution - coding silent Upper_aerodigestive_tract COSM3995374 TIF1 c.141G>A p.A47A Substitution - coding silent Kidney COSM3989425 BAHCC1 c.5479G>T p.E1827* Substitution - Nonsense Kidney COSM4080262 KDM4B c.586T>C p.Y196H Substitution - Missense Stomach COSM4101587 BRWD1 c.5462A>T p.D1821V Substitution - Missense Stomach COSM4129609 NCOR1 c.568C>T p.R190* Substitution - Nonsense Upper_aerodigestive_tract COSM4152520 SFMBT1 c.2473C>A p.Q825K Substitution - Missense Kidney COSM4154059 MUM1 c.500G>C p.C167S Substitution - Missense Kidney COSM4157420 MECOM c.621G>T p.K207N Substitution - Missense Thyroid COSM4385234 EP300 c.394A>T p.T132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4565660 BAG6 c.2349_2350CC>TT p.H784Y Substitution - Missense Skin COSM4426429 INOC1 c.1202G>A p.R401H Substitution - Missense Breast COSM4493178 PRDM15 c.4109C>T p.T1370I Substitution - Missense Skin COSM4489753 NCOR1 c.3480C>T p.S1160S Substitution - coding silent Skin COSM4434767 ZMYND8 c.2218G>C p.D740H Substitution - Missense Oesophagus COSM4483100 AKAP1 c.2673C>T p.G891G Substitution - coding silent Skin COSM4470713 SMARCC1 c.1679C>T p.A560V Substitution - Missense Skin COSM4411449 BAP1 c.829C>T p.Q277* Substitution - Nonsense Kidney COSM4775324 KMT2D c.11772_11773insGGTCAGCT p.R3928fs*20 Insertion - Frameshift Central_nervous_system COSM4732671 TCF20 c.2078C>T p.T693M Substitution - Missense Large_intestine COSM4611655 HDAC2 c.33delA p.V12fs*20 Deletion - Frameshift Large_intestine COSM4657143 BAHD1 c.654G>A p.E218E Substitution - coding silent Large_intestine COSM4746132 HDAC6 c.3013G>T p.D1005Y Substitution - Missense Central_nervous_system COSM4749946 SMARCA4 c.3539C>A p.P1180H Substitution - Missense Stomach COSM4795433 DNMT3A c.513G>A p.R171R Substitution - coding silent Liver COSM4800872 KMT2C c.1933G>T p.D645Y Substitution - Missense Liver COSM4904466 KDM5A c.4203T>C p.A1401A Substitution - coding silent Skin COSM4926441 CAMKMT c.771G>T p.A257A Substitution - coding silent Liver COSM4993085 MYST3 c.5737T>G p.S1913A Substitution - Missense Skin COSM5016402 KMT2D c.4429delG p.E1477fs*38 Deletion - Frameshift Kidney COSM5365902 NCOA3 c.3333T>C p.Y1111Y Substitution - coding silent Large_intestine COSM5495458 GLYR1 c.295-5T>G p.? Unknown Biliary_tract COSM5502324 TDRD10 c.436G>A p.A146T Substitution - Missense Biliary_tract COSM5475349 SMC1A c.3390C>T p.G1130G Substitution - coding silent Large_intestine COSM5435050 PHF21B c.967C>T p.R323W Substitution - Missense Oesophagus COSM5602845 ARID4A c.1054C>T p.H352Y Substitution - Missense Skin COSM5603083 CBX7 c.685T>A p.S229T Substitution - Missense Skin COSM5621092 KDM5C c.760G>A p.D254N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5606450 CREBBP c.3862C>T p.R1288W Substitution - Missense Skin COSM5568232 TDG c.1159T>C p.S387P Substitution - Missense Prostate COSM5835759 KIAA2026_ENST00000399933 c.1188delA p.K396fs*117 Deletion - Frameshift Breast COSM5803370 VPS72 c.1064G>T p.R355L Substitution - Missense Liver COSM5913506 MPHOSPH8 c.270G>A p.W90* Substitution - Nonsense Skin COSM5923793 SND1 c.685C>T p.P229S Substitution - Missense Skin COSM5953848 SIRT1 c.800C>T p.S267L Substitution - Missense Upper_aerodigestive_tract COSM5990199 HNF1A c.614A>T p.K205M Substitution - Missense Liver COSM5979980 SMNDC1 c.121-2_121-1insAT p.? Unknown Upper_aerodigestive_tract COSM5995590 SMARCA5 c.2565A>G p.K855K Substitution - coding silent Prostate COSM52785 PBRM1 c.1790C>A p.A597D Substitution - Missense Kidney COSM1169683 TET2 c.? p.K450* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM85769 EZH2 c.? p.Y646? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43409 TET2 c.? p.?fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM4767390 IDH2 c.? p.A416fs*? Frameshift Large_intestine COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM2230183 PRDM2 c.5095C>T p.Q1699* Substitution - Nonsense Large_intestine COSM5945127 EZH2 c.463G>A p.G155R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1007246 EPC2 c.994C>T p.R332C Substitution - Missense Large_intestine COSM1406752 HDAC4 c.1167delC p.G390fs*8 Deletion - Frameshift Large_intestine COSM1021106 CAMKMT c.716A>G p.Y239C Substitution - Missense Endometrium COSM1705854 MBD6 c.2843A>T p.K948M Substitution - Missense Skin COSM1725670 PRDM2 c.384G>T p.K128N Substitution - Missense Liver COSM5642589 BRD9 c.924C>T p.D308D Substitution - coding silent Prostate COSM2206313 PRMT8 c.97delC p.Q35fs*31 Deletion - Frameshift Large_intestine COSM294091 ACTR8 c.383G>A p.R128H Substitution - Missense Large_intestine COSM1617696 SMARCC1 c.1385+4A>T p.? Unknown Liver COSM1628460 EP400 c.1404G>A p.R468R Substitution - coding silent Liver COSM1161958 KDM5C c.2062-2A>T p.? Unknown Kidney COSM5393818 PHF21B c.1392G>A p.L464L Substitution - coding silent Skin COSM5682854 EP300 c.1981G>A p.A661T Substitution - Missense Soft_tissue COSM5601046 ARID1A c.4853C>T p.P1618L Substitution - Missense Skin COSM3203590 MECOM c.1833A>G p.G611G Substitution - coding silent Stomach COSM4823359 PHF20 c.1850C>G p.S617C Substitution - Missense Cervix COSM1606396 BAZ2A_ENST00000379441 c.3184A>G p.I1062V Substitution - Missense Liver COSM5890051 SETD7 c.739G>A p.G247R Substitution - Missense Skin COSM4418844 SCML2 c.342C>A p.D114E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1727559 SETD5_ENST00000402198 c.3984delA p.N1329fs*41 Deletion - Frameshift Liver COSM4385249 EP300 c.2761G>A p.A921T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM1179107 KMT2C c.851G>A p.R284Q Substitution - Missense Soft_tissue COSM87180 TET2 c.5374_5374delC p.H1792fs*28 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1057 SMARCB1 c.1148delC p.P383fs*>3 Deletion - Frameshift Central_nervous_system COSM2270976 TET2 c.2176C>T p.Q726* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3017624 SHPRH c.2085T>G p.N695K Substitution - Missense Bone COSM4960785 PRDM2 c.4197G>A p.Q1399Q Substitution - coding silent Liver COSM1238222 ARID1B c.6345G>A p.A2115A Substitution - coding silent Oesophagus COSM5716522 HDAC10 c.1548G>A p.R516R Substitution - coding silent Skin COSM5878770 DNMT3A c.2173+4_2173+19del16 p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4416688 KAT2B c.1157A>G p.N386S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5617063 TCF20 c.339G>T p.G113G Substitution - coding silent Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Soft_tissue COSM1168639 POGZ c.342C>T p.A114A Substitution - coding silent Pancreas COSM5445583 NIPBL c.1290A>T p.P430P Substitution - coding silent Oesophagus COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM5610644 SMARCB1 c.239G>A p.G80E Substitution - Missense Skin COSM4912807 BAHCC1 c.3277G>T p.A1093S Substitution - Missense Liver COSM5995076 DHX30 c.1587C>T p.G529G Substitution - coding silent Prostate COSM1368977 CHD8 c.7112delA p.N2371fs*6 Deletion - Frameshift Large_intestine COSM305487 CREBBP c.2191A>G p.N731D Substitution - Missense Soft_tissue COSM222263 EP400 c.1960C>T p.P654S Substitution - Missense Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3704169 HDAC7 c.694C>T p.R232W Substitution - Missense Biliary_tract COSM1118769 SCML2 c.251C>T p.T84M Substitution - Missense Endometrium COSM317283 EP300 c.3857A>G p.N1286S Substitution - Missense Soft_tissue COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM4742899 ZMYM2 c.2083A>C p.N695H Substitution - Missense Large_intestine COSM3773660 MPHOSPH8 c.140C>G p.A47G Substitution - Missense Kidney COSM1230625 TRRAP c.4928A>G p.H1643R Substitution - Missense Large_intestine COSM255051 CREBBP c.1890_1893delAGCC p.A631fs*23 Deletion - Frameshift Urinary_tract COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4941909 TDRD1 c.482T>C p.L161S Substitution - Missense Liver COSM3457096 HNF1A c.555G>A p.L185L Substitution - coding silent Skin COSM1483713 NCOA3 c.3741_3749delGCAGCAGCA p.Q1274_Q1276delQQQ Deletion - In frame Breast COSM907723 ARID1A c.4003C>T p.R1335* Substitution - Nonsense Endometrium COSM87144 TET2 c.4011_4012insGTAT p.K1338fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3203694 MECOM c.746G>A p.G249E Substitution - Missense Skin COSM4590719 KAT2A c.1583C>T p.S528F Substitution - Missense Upper_aerodigestive_tract COSM4060207 SRCAP c.6328C>T p.R2110C Substitution - Missense Stomach COSM4590719 KAT2A c.1583C>T p.S528F Substitution - Missense Upper_aerodigestive_tract COSM2720152 CHD7 c.7639G>T p.E2547* Substitution - Nonsense Large_intestine COSM3729433 ATAD2 c.1721C>T p.T574M Substitution - Missense Stomach COSM4516807 SRCAP c.2329_2330CC>TT p.P777F Substitution - Missense Skin COSM5738867 EPC1 c.2188A>G p.S730G Substitution - Missense Small_intestine COSM3749702 ACTR5 c.18C>T p.F6F Substitution - coding silent Large_intestine COSM5477439 KMT2A c.2234G>A p.R745Q Substitution - Missense Large_intestine COSM3883780 TRRAP c.11122G>T p.E3708* Substitution - Nonsense Stomach COSM4725135 SETBP1 c.4419G>T p.P1473P Substitution - coding silent Large_intestine COSM4385259 EP300 c.4316C>A p.P1439Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4446813 PHF20L1 c.430-8C>T p.? Unknown Skin COSM1699621 KMT2C c.10630T>C p.F3544L Substitution - Missense Skin COSM5741884 CHD6 c.4133A>G p.Q1378R Substitution - Missense Small_intestine COSM1125857 BRWD3 c.2119G>T p.G707C Substitution - Missense Endometrium COSM5593231 SP140_ENST00000392045 c.1859G>A p.G620E Substitution - Missense Skin COSM325862 MTF2 c.572G>T p.W191L Substitution - Missense Lung COSM4187187 PRMT6 c.187G>C p.E63Q Substitution - Missense Kidney COSM4672086 CHD7 c.3746G>A p.R1249Q Substitution - Missense Large_intestine COSM1375552 CHD2 c.3725delA p.K1245fs*4 Deletion - Frameshift Large_intestine COSM3694719 ATRX c.737G>A p.R246H Substitution - Missense Large_intestine COSM1123279 PHF8 c.489C>A p.T163T Substitution - coding silent Endometrium COSM1756774 KDM5A c.4362G>A p.M1454I Substitution - Missense Urinary_tract COSM6003172 BAHCC1 c.4070C>T p.S1357F Substitution - Missense Prostate COSM1125845 BRWD3 c.3003C>T p.C1001C Substitution - coding silent Endometrium COSM5351714 TET2 c.4004C>A p.P1335Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1696955 KDM1B c.1631G>A p.G544E Substitution - Missense Skin COSM423098 PBRM1 c.2376_2391del16 p.H792fs*8 Deletion - Frameshift Kidney COSM1490967 KDM6A c.1509C>G p.V503V Substitution - coding silent Breast COSM5373652 RSF1 c.942C>T p.S314S Substitution - coding silent Skin COSM738841 PRDM13 c.1446C>G p.L482L Substitution - coding silent Lung COSM1635188 KMT2C c.13320T>A p.Y4440* Substitution - Nonsense Liver COSM3708667 KDM5C c.3868G>T p.G1290C Substitution - Missense Liver COSM1746527 SUV420H1 c.76C>T p.Q26* Substitution - Nonsense Urinary_tract COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5636701 SUZ12 c.2070G>T p.K690N Substitution - Missense Oesophagus COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1167927 ARID2 c.3493C>T p.Q1165* Substitution - Nonsense Skin COSM5756472 WHSC1 c.3299A>T p.E1100V Substitution - Missense Large_intestine COSM3849266 POGZ c.542C>T p.T181M Substitution - Missense Pancreas COSM254671 EP300 c.193C>T p.Q65* Substitution - Nonsense Urinary_tract COSM4819686 ZMYM6 c.2366T>G p.L789W Substitution - Missense Cervix COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3912957 PHF21B c.244C>T p.L82F Substitution - Missense Skin COSM1630640 L3MBTL4 c.738A>G p.P246P Substitution - coding silent Liver COSM5383269 MGA c.7518G>A p.K2506K Substitution - coding silent Skin COSM5404875 KDM1B c.264G>A p.G88G Substitution - coding silent Skin COSM4606482 KMT2C c.2459C>T p.T820I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5353466 PRDM2 c.4886C>T p.A1629V Substitution - Missense Large_intestine COSM1216866 NCOA6 c.2127G>T p.Q709H Substitution - Missense Large_intestine COSM1158531 BRD8 c.2035C>G p.Q679E Substitution - Missense Pancreas COSM207998 MECOM c.1839delA p.G614fs*30 Deletion - Frameshift Large_intestine COSM3410719 JARID2 c.2524G>T p.A842S Substitution - Missense Central_nervous_system COSM1737152 PWWP2B c.149C>T p.P50L Substitution - Missense Central_nervous_system COSM4384871 CREBBP c.3484A>G p.N1162D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1125455 ATRX c.3905G>T p.R1302I Substitution - Missense Endometrium COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM5685594 KDM5A c.3837G>T p.L1279F Substitution - Missense Soft_tissue COSM3751640 PWWP2B c.265C>T p.R89C Substitution - Missense Large_intestine COSM4384054 NSD1 c.1544A>G p.H515R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4383936 TET2 c.4108G>T p.G1370W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1211757 KDM5A c.1115A>C p.N372T Substitution - Missense Large_intestine COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4972329 ASXL1 c.? p.P920fs*2 Frameshift Haematopoietic_and_lymphoid_tissue COSM5507272 SETD2 c.4085G>T p.S1362I Substitution - Missense Biliary_tract COSM168089 KMT2D c.6251delC p.P2084fs*30 Deletion - Frameshift Skin COSM4146853 EP400 c.6646A>C p.T2216P Substitution - Missense Upper_aerodigestive_tract COSM53139 TET2 c.? p.Q644* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1380019 CDYL2 c.879C>T p.D293D Substitution - coding silent Large_intestine COSM3508913 SRCAP c.6115C>T p.Q2039* Substitution - Nonsense Skin COSM685478 SFMBT2 c.1917G>A p.L639L Substitution - coding silent Lung COSM468037 EP400 c.8226A>G p.Q2742Q Substitution - coding silent Oesophagus COSM3393104 LMNB1 c.556G>A p.D186N Substitution - Missense Pancreas COSM5185752 EHMT2 c.2112G>A p.L704L Substitution - coding silent Large_intestine COSM4100191 DIDO1 c.2893G>T p.G965C Substitution - Missense Stomach COSM4502288 EYA2 c.609C>T p.V203V Substitution - coding silent Skin COSM1461719 SMARCA2 c.2348C>T p.S783L Substitution - Missense Bone COSM4085882 BAZ2B c.4841C>T p.P1614L Substitution - Missense Stomach COSM4015104 JMJD1C c.4773T>C p.G1591G Substitution - coding silent Stomach COSM76708 TET1 c.3769G>T p.V1257F Substitution - Missense Ovary COSM972474 CTCF c.591T>A p.Y197* Substitution - Nonsense Endometrium COSM468299 PRMT8 c.415G>A p.G139R Substitution - Missense Kidney COSM49103 IDH2 c.? p.R140Q Substitution - Missense Urinary_tract COSM1309738 PHF17 c.958G>T p.E320* Substitution - Nonsense Urinary_tract COSM5817531 KMT2D c.12449G>T p.R4150L Substitution - Missense Liver COSM5752566 KMT2C c.8789C>G p.S2930* Substitution - Nonsense Breast COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM88025 SMARCA4 c.2729C>T p.T910M Substitution - Missense Central_nervous_system COSM3943501 LBR c.120G>C p.K40N Substitution - Missense Ovary COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4495216 INOC1 c.4496C>T p.P1499L Substitution - Missense Skin COSM5574739 MBD1 c.156C>G p.Y52* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM42016 TET2 c.4393C>T p.R1465* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM263779 AP001011.3_ENST00000320876 c.3569C>A p.S1190Y Substitution - Missense Large_intestine COSM5348613 KDM6A c.1554_1555insA p.R519fs*7 Insertion - Frameshift Liver COSM5702618 TET2 c.4456T>C p.S1486P Substitution - Missense Kidney COSM1716608 ATRX c.561T>G p.Y187* Substitution - Nonsense Central_nervous_system COSM5467331 ATAD2 c.1640T>C p.I547T Substitution - Missense Large_intestine COSM5403089 DUSP1 c.1017C>T p.F339F Substitution - coding silent Skin COSM5984351 PHRF1 c.4063G>C p.E1355Q Substitution - Missense Upper_aerodigestive_tract COSM1420486 MECOM c.1113C>T p.L371L Substitution - coding silent Large_intestine COSM975873 NCOR1 c.4036G>T p.E1346* Substitution - Nonsense Endometrium COSM3766017 RAI1 c.1992G>A p.P664P Substitution - coding silent Liver COSM127803 DIDO1 c.1740A>C p.T580T Substitution - coding silent Thyroid COSM6001941 CREBBP c.3299C>T p.A1100V Substitution - Missense Prostate COSM5503186 ARID1B c.4971G>A p.Q1657Q Substitution - coding silent Biliary_tract COSM1166637 NSD1 c.5912A>G p.Y1971C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4917019 TP53BP1 c.5587C>A p.Q1863K Substitution - Missense Liver COSM1089 SMARCB1 c.986+57insAA p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3723034 PHF2 c.2976C>A p.T992T Substitution - coding silent Biliary_tract COSM1247992 CDYL c.1065C>G p.I355M Substitution - Missense Oesophagus COSM4796011 SMARCA2 c.3780G>A p.R1260R Substitution - coding silent Liver COSM5042408 MTA2 c.1663G>A p.G555S Substitution - Missense Liver COSM1581234 KMT2C c.10763C>T p.S3588L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Bone COSM368633 ZBTB4 c.930G>C p.V310V Substitution - coding silent Lung COSM3900880 CHD7 c.7204A>C p.R2402R Substitution - coding silent Stomach COSM3707124 SIRT2 c.269-8T>A p.? Unknown Liver COSM405183 PRDM12 c.570+1_570+2delGT p.? Unknown Large_intestine COSM5606430 CHD6 c.4316T>G p.M1439R Substitution - Missense Skin COSM30357 KMT2D c.7430G>A p.S2477N Substitution - Missense Kidney COSM3767319 FXR1 c.513+6A>G p.? Unknown Liver COSM5518408 HDAC11 c.561G>A p.G187G Substitution - coding silent Biliary_tract COSM3782224 TAF1L c.3719G>A p.R1240Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1056167 CLOCK c.2017G>A p.G673R Substitution - Missense Endometrium COSM4941424 SP110 c.903A>C p.T301T Substitution - coding silent Liver COSM1682715 ZMYM3 c.3736C>A p.P1246T Substitution - Missense Large_intestine COSM3291728 CHD6 c.1704C>T p.F568F Substitution - coding silent Large_intestine COSM216993 KDM4D c.1010A>G p.K337R Substitution - Missense Liver COSM4847603 TET2 c.3072C>G p.I1024M Substitution - Missense Cervix COSM4792077 MORF4L2 c.821G>A p.S274N Substitution - Missense Liver COSM5999292 KAT6B c.1688C>T p.P563L Substitution - Missense Prostate COSM1330918 NCOA2 c.1330T>A p.S444T Substitution - Missense Ovary COSM1577240 MEN1 c.?_?del? p.? Unknown Parathyroid COSM5461076 BRD3 c.850C>T p.R284C Substitution - Missense Prostate COSM5985479 KDM6A c.2477C>T p.A826V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5758456 CHD4 c.4780-10_4780-9insT p.? Unknown Bone COSM985434 CHD3 c.1161delG p.G388fs*96 Deletion - Frameshift Endometrium COSM206276 KMT2C c.1966G>A p.V656I Substitution - Missense Prostate COSM4158283 ATXN7 c.2569G>T p.A857S Substitution - Missense Thyroid COSM2164488 MEN1 c.686G>A p.R229H Substitution - Missense Large_intestine COSM485099 KMT2C c.1073T>G p.F358C Substitution - Missense Kidney COSM5817246 PRDM1 c.1447G>C p.A483P Substitution - Missense Liver COSM5945056 TET2 c.4139A>C p.H1380P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM161114 FMR1 c.1171G>A p.E391K Substitution - Missense Breast COSM5953705 SETD1B c.1800C>T p.D600D Substitution - coding silent Upper_aerodigestive_tract COSM1315837 ASXL1 c.2290_2291insC p.L764fs*10 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM52781 PBRM1 c.3892C>T p.Q1298* Substitution - Nonsense Kidney COSM1046991 BAP1 c.1486G>A p.A496T Substitution - Missense Endometrium COSM23027 MEN1 c.268delT p.Y90fs*29 Deletion - Frameshift Pituitary COSM6004384 PHF20 c.2645G>A p.R882H Substitution - Missense Prostate COSM311247 FMR1 c.74A>T p.E25V Substitution - Missense Soft_tissue COSM1216525 MYST3 c.3260G>A p.R1087H Substitution - Missense Large_intestine COSM314662 RAD54L c.2147G>A p.R716Q Substitution - Missense Large_intestine COSM3431924 TRRAP c.7246G>A p.E2416K Substitution - Missense Upper_aerodigestive_tract COSM52995 EZH2 c.863G>A p.R288Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4689608 HCFC2 c.1961C>T p.A654V Substitution - Missense Large_intestine COSM5756809 ARID1B c.4192C>T p.R1398C Substitution - Missense Large_intestine COSM5679361 BRDT c.2584G>T p.E862* Substitution - Nonsense Soft_tissue COSM5624035 EYA1 c.1449G>A p.L483L Substitution - coding silent Oesophagus COSM1265346 SETD5_ENST00000402198 c.1978A>T p.T660S Substitution - Missense Oesophagus COSM1756013 GTF3C4 c.1362C>T p.F454F Substitution - coding silent Urinary_tract COSM88749 CREBBP c.4336C>T p.R1446C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1729139 BAHCC1 c.5161A>C p.K1721Q Substitution - Missense Liver COSM22581 MEN1 c.376T>G p.W126G Substitution - Missense Pancreas COSM5673403 KDM1A c.1623-2A>C p.? Unknown Soft_tissue COSM1470120 PRMT6 c.513C>T p.L171L Substitution - coding silent Biliary_tract COSM4822945 ZBTB4 c.2529G>T p.E843D Substitution - Missense Cervix COSM111693 KAT6B c.3289_3291delGAA p.E1097delE Deletion - In frame Upper_aerodigestive_tract COSM1488397 KMT2C c.3674_3675delCA p.S1225fs*1 Deletion - Frameshift Breast COSM5949663 KMT2D c.6058_6061delGAAG p.E2020fs*31 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4072219 SETBP1 c.199C>T p.R67W Substitution - Missense Stomach COSM3736084 RNF17 c.1038A>C p.K346N Substitution - Missense Thyroid COSM4788603 MYST2 c.1146C>A p.R382R Substitution - coding silent Liver COSM1621518 PHF1 c.568T>G p.Y190D Substitution - Missense Liver COSM5789663 TRIM33 c.3337C>T p.R1113C Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM722956 SMYD1 c.38C>A p.T13N Substitution - Missense Lung COSM4961486 BAZ2A c.2979C>T p.R993R Substitution - coding silent Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1621420 TCF19 c.987C>A p.A329A Substitution - coding silent Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1312940 HDAC9 c.1749G>A p.T583T Substitution - coding silent Urinary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1659280 RSF1 c.2320A>G p.T774A Substitution - Missense Kidney COSM5625860 TDRD6 c.5588A>G p.D1863G Substitution - Missense Oesophagus COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5763723 MLL5 c.4884T>C p.P1628P Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4736765 TRRAP c.1471C>T p.P491S Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3929367 ATAD2 c.2792A>G p.K931R Substitution - Missense Central_nervous_system COSM4018304 KMT2A c.4355G>T p.C1452F Substitution - Missense Stomach COSM4034793 MTA2 c.570C>T p.I190I Substitution - coding silent Stomach COSM5716982 LBR c.28G>T p.E10* Substitution - Nonsense Skin COSM4898642 EP300 c.4918G>T p.E1640* Substitution - Nonsense Skin COSM1676099 MTA2 c.809C>T p.A270V Substitution - Missense Large_intestine COSM5231785 PRMT8 c.807delG p.T270fs*5 Deletion - Frameshift Breast COSM3730368 BRD3 c.703C>A p.P235T Substitution - Missense Stomach COSM1015786 TET2 c.73T>C p.C25R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5451588 DIDO1 c.4211G>A p.R1404Q Substitution - Missense Biliary_tract COSM4799980 KDM4A c.2833G>C p.D945H Substitution - Missense Liver COSM2755255 KDM4B c.1677G>A p.P559P Substitution - coding silent Skin COSM3905147 GTF3C4 c.859G>A p.V287M Substitution - Missense Stomach COSM5922791 BTAF1 c.5351C>T p.S1784F Substitution - Missense Skin COSM5452107 SETD6 c.1142T>C p.I381T Substitution - Missense Large_intestine COSM4953371 KMT2D c.13567G>A p.A4523T Substitution - Missense Liver COSM4410851 SUV39H2 c.634delA p.R213fs*2 Deletion - Frameshift Kidney COSM4060186 SRCAP c.1470G>T p.Q490H Substitution - Missense Stomach COSM1616599 HDAC10 c.1033A>C p.S345R Substitution - Missense Liver COSM26516 RUVBL1 c.306C>T p.Y102Y Substitution - coding silent Skin COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43416 TET2 c.2368C>T p.Q790* Substitution - Nonsense Skin COSM81089 DHX30 c.1974G>A p.L658L Substitution - coding silent Ovary COSM138885 SMARCC2 c.1255G>T p.E419* Substitution - Nonsense Skin COSM266934 KMT2A c.11708G>A p.R3903H Substitution - Missense Large_intestine COSM252581 LMNA c.811-3C>A p.? Unknown Ovary COSM297068 PHF2 c.2961C>A p.T987T Substitution - coding silent Thyroid COSM297202 PRDM2 c.4459delA p.V1490fs*74 Deletion - Frameshift Large_intestine COSM310891 EP400 c.2969G>A p.R990H Substitution - Missense Soft_tissue COSM331561 BAZ1B c.3979G>T p.V1327L Substitution - Missense Lung COSM419520 TCF20 c.5094G>T p.S1698S Substitution - coding silent Urinary_tract COSM430522 HNF1A c.79A>C p.I27L Substitution - Missense Urinary_tract COSM1050495 PRDM5 c.1672C>T p.R558* Substitution - Nonsense Endometrium COSM1017599 SP140_ENST00000392045 c.782A>G p.Y261C Substitution - Missense Endometrium COSM1021301 MSH6 c.3303G>T p.K1101N Substitution - Missense Endometrium COSM1022758 SMYD5 c.852G>A p.E284E Substitution - coding silent Endometrium COSM757233 KDM6A c.2832+1G>A p.? Unknown Endometrium COSM900302 TDRD5 c.1814C>T p.S605L Substitution - Missense Endometrium COSM929345 PHRF1 c.2039G>T p.R680M Substitution - Missense Endometrium COSM1601714 LBR c.695T>C p.M232T Substitution - Missense Liver COSM908612 ZMYM6 c.2351A>G p.N784S Substitution - Missense Endometrium COSM1077369 ATAT1 c.725-1G>T p.? Unknown Endometrium COSM1075366 ARID1B c.6606C>T p.G2202G Substitution - coding silent Endometrium COSM1111295 PHF2 c.848G>A p.R283H Substitution - Missense Large_intestine COSM1602492 RAD54L c.2243G>T p.*748L Nonstop extension Liver COSM1124806 ZMYM3 c.2794A>G p.I932V Substitution - Missense Endometrium COSM1125509 ATRX c.1252C>T p.R418* Substitution - Nonsense Endometrium COSM1114822 SMARCA1 c.177A>C p.K59N Substitution - Missense Endometrium COSM1087033 EZH2 c.2233G>A p.E745K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1100837 CHD7 c.5439C>T p.P1813P Substitution - coding silent Stomach COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1230821 TTF2 c.2198G>A p.R733Q Substitution - Missense Large_intestine COSM1185010 BTAF1 c.3717G>T p.K1239N Substitution - Missense Large_intestine COSM1162748 BRD9 c.928A>T p.M310L Substitution - Missense Upper_aerodigestive_tract COSM1205882 EYA3 c.257C>T p.S86L Substitution - Missense Large_intestine COSM1225382 SETD5_ENST00000402198 c.2329T>C p.F777L Substitution - Missense Large_intestine COSM1226794 SMARCD2 c.530G>A p.R177Q Substitution - Missense Large_intestine COSM1165357 ASXL3 c.2558C>A p.S853Y Substitution - Missense Large_intestine COSM1171673 PWWP2B c.299A>T p.E100V Substitution - Missense Oesophagus COSM1605811 EP400 c.6366+7G>A p.? Unknown Liver COSM1333461 PRDM2 c.4423G>A p.A1475T Substitution - Missense Large_intestine COSM1371930 SETD3 c.1378C>T p.R460C Substitution - Missense Skin COSM1391086 BRD4 c.1267C>T p.R423* Substitution - Nonsense Large_intestine COSM1413005 DIDO1 c.6451C>T p.R2151W Substitution - Missense Large_intestine COSM1449400 KMT2C c.10812G>T p.K3604N Substitution - Missense Large_intestine COSM1364681 AICDA c.361G>A p.A121T Substitution - Missense Large_intestine COSM1566684 PBRM1 c.2211A>G p.T737T Substitution - coding silent Soft_tissue COSM1471619 SETD5_ENST00000402198 c.2644C>T p.R882* Substitution - Nonsense Prostate COSM1485249 SETD2 c.3017G>C p.R1006T Substitution - Missense Breast COSM1610665 BPTF c.5848A>G p.M1950V Substitution - Missense Liver COSM1587031 ZMYM2 c.228A>G p.V76V Substitution - coding silent Endometrium COSM1627155 PHF13 c.832C>A p.R278R Substitution - coding silent Liver COSM1579532 TP53BP1 c.4510G>T p.G1504W Substitution - Missense Stomach COSM1581523 PRDM16 c.2281G>A p.A761T Substitution - Missense Large_intestine COSM1626237 ATRX c.2971_2972insG p.E991fs*9 Insertion - Frameshift Central_nervous_system COSM1640478 CREBBP c.3305A>G p.Y1102C Substitution - Missense Stomach COSM1676745 ATF7IP c.1660C>T p.R554* Substitution - Nonsense Large_intestine COSM2051925 SMYD3 c.908delT p.F303fs*12 Deletion - Frameshift Large_intestine COSM2152542 ATF7IP c.1665A>T p.K555N Substitution - Missense Central_nervous_system COSM2152576 KDM6A c.3700T>G p.C1234G Substitution - Missense Thyroid COSM2175129 SIRT4 c.259C>T p.R87C Substitution - Missense Skin COSM2802632 KDM6B c.3377G>A p.R1126Q Substitution - Missense Soft_tissue COSM2965389 KDM6A c.2380A>C p.T794P Substitution - Missense Upper_aerodigestive_tract COSM3087186 BAZ1B c.111G>A p.E37E Substitution - coding silent Large_intestine COSM3065117 HDAC10 c.1598delG p.G533fs*18 Deletion - Frameshift Large_intestine COSM3304684 KMT2C c.891C>T p.C297C Substitution - coding silent Soft_tissue COSM3353991 CDYL c.1541C>T p.A514V Substitution - Missense Large_intestine COSM3501040 RTF1 c.207C>T p.A69A Substitution - coding silent Skin COSM3418913 KDM1A c.2233G>A p.D745N Substitution - Missense Large_intestine COSM3434295 TDRD1 c.1636G>A p.D546N Substitution - Missense Skin COSM3451768 DPF2 c.190C>T p.P64S Substitution - Missense Skin COSM3578891 SP140_ENST00000392045 c.733G>A p.D245N Substitution - Missense Skin COSM3600230 PHF17 c.88C>T p.Q30* Substitution - Nonsense Skin COSM3596272 SFMBT1 c.2594C>T p.A865V Substitution - Missense Skin COSM3547824 PCNA c.216C>T p.L72L Substitution - coding silent Skin COSM3546360 CHD6 c.4474G>A p.D1492N Substitution - Missense Skin COSM3703936 SETD8 c.290-3C>A p.? Unknown Liver COSM3706555 MGA c.2606A>G p.D869G Substitution - Missense Liver COSM3719946 DNMT3A c.1123-1_1144del23 p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3723031 PHF14 c.344A>G p.K115R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3724864 KDM6A c.2807T>C p.L936S Substitution - Missense Lung COSM3740306 PRDM15 c.3865G>A p.E1289K Substitution - Missense Liver COSM3752792 TRIM66 c.1397A>G p.H466R Substitution - Missense Upper_aerodigestive_tract COSM3751678 TRDMT1 c.301C>T p.H101Y Substitution - Missense Large_intestine COSM3800270 BRD1 c.2175C>T p.L725L Substitution - coding silent Urinary_tract COSM3807730 KAT6B c.1131G>C p.K377N Substitution - Missense Breast COSM3829021 L3MBTL3 c.1417C>T p.H473Y Substitution - Missense Breast COSM3955899 CHD8 c.1649C>A p.S550Y Substitution - Missense Lung COSM3979605 RAG2 c.1502C>A p.P501Q Substitution - Missense Lung COSM4021545 PRDM2 c.1564G>C p.E522Q Substitution - Missense Stomach COSM4010585 BRDT c.338A>T p.D113V Substitution - Missense Stomach COSM3992877 ACTL6A c.919G>T p.G307* Substitution - Nonsense Kidney COSM4099098 NCOA3 c.2321T>G p.I774S Substitution - Missense Stomach COSM4092798 HDAC4 c.598C>T p.R200C Substitution - Missense Stomach COSM4101712 PRDM15 c.2584T>C p.F862L Substitution - Missense Stomach COSM4101716 PRDM15 c.1475C>T p.A492V Substitution - Missense Stomach COSM4097547 ASXL1 c.1646G>A p.R549H Substitution - Missense Stomach COSM4061082 BRD7 c.1046C>T p.T349M Substitution - Missense Stomach COSM4127675 KDM4A c.2842-3C>T p.? Unknown Oesophagus COSM4162014 KMT2C c.2534G>A p.G845E Substitution - Missense Upper_aerodigestive_tract COSM4165568 BTAF1 c.4487T>C p.V1496A Substitution - Missense Kidney COSM4188466 PBRM1 c.3491T>G p.V1164G Substitution - Missense Kidney COSM4389277 HDAC4 c.230C>T p.A77V Substitution - Missense Pancreas COSM4408969 SMARCA2 c.4638C>G p.D1546E Substitution - Missense Soft_tissue COSM4416669 ACTA1 c.130-5T>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4500735 TCF20 c.5725C>T p.H1909Y Substitution - Missense Skin COSM4460430 KAT2B c.1165C>T p.P389S Substitution - Missense Skin COSM4457771 KDM4B c.1059C>T p.P353P Substitution - coding silent Large_intestine COSM4468069 HDAC5 c.1521C>T p.A507A Substitution - coding silent Skin COSM4464441 ASXL3 c.455C>T p.P152L Substitution - Missense Skin COSM4410937 BAP1 c.553G>A p.G185R Substitution - Missense Kidney COSM4717883 PRMT5 c.927G>A p.Q309Q Substitution - coding silent Large_intestine COSM4729926 SRCAP c.436T>C p.W146R Substitution - Missense Large_intestine COSM4681604 ERCC6 c.401G>A p.R134Q Substitution - Missense Large_intestine COSM4685918 FXR1 c.1289G>A p.R430Q Substitution - Missense Large_intestine COSM4714053 PHIP c.190G>A p.V64M Substitution - Missense Large_intestine COSM4682156 EZH1 c.2029G>A p.D677N Substitution - Missense Large_intestine COSM4771207 ARID2 c.2086C>T p.Q696* Substitution - Nonsense Pleura COSM4753570 INOC1 c.106C>T p.R36* Substitution - Nonsense Stomach COSM4801637 PHC1 c.2505C>A p.F835L Substitution - Missense Liver COSM4798861 HDGFL1 c.5C>A p.S2* Substitution - Nonsense Liver COSM4888895 TAF1 c.5447G>T p.S1816I Substitution - Missense Upper_aerodigestive_tract COSM4847236 RBBP4 c.1231G>C p.D411H Substitution - Missense Cervix COSM4844710 DIDO1 c.2362G>A p.E788K Substitution - Missense Cervix COSM4952964 MTA2 c.685A>G p.I229V Substitution - Missense Liver COSM5024176 BAZ1B c.1363C>T p.R455W Substitution - Missense Bone COSM5019544 KDM6B c.234A>G p.P78P Substitution - coding silent Soft_tissue COSM5016740 TRIM33 c.3160_3161insA p.I1054fs*2 Insertion - Frameshift Kidney COSM5021552 KMT2C c.2532+6G>T p.? Unknown Large_intestine COSM5069339 FMR1 c.1551A>G p.P517P Substitution - coding silent Large_intestine COSM5410671 BRD3 c.1143G>A p.R381R Substitution - coding silent Skin COSM5372889 GLYATL1 c.968G>A p.W323* Substitution - Nonsense Skin COSM5392938 PRDM15 c.527C>T p.P176L Substitution - Missense Skin COSM5361805 KMT2D c.12493G>A p.A4165T Substitution - Missense Large_intestine COSM5474297 DIDO1 c.6177C>T p.P2059P Substitution - coding silent Large_intestine COSM5449882 DHX30 c.3450G>A p.E1150E Substitution - coding silent Large_intestine COSM5424043 BRWD1 c.2004G>T p.Q668H Substitution - Missense Prostate COSM5642743 SMYD4 c.393A>T p.R131S Substitution - Missense Oesophagus COSM5627435 KDM2A c.10G>A p.E4K Substitution - Missense Oesophagus COSM5625968 BRWD1 c.5841T>C p.D1947D Substitution - coding silent Oesophagus COSM5650912 EPC1 c.606C>A p.S202S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5724482 HCFC1 c.5666G>A p.R1889H Substitution - Missense Skin COSM5739558 CHD4 c.4177C>T p.R1393W Substitution - Missense Small_intestine COSM5593367 TAF1 c.4988C>T p.S1663F Substitution - Missense Skin COSM5670366 EZH1 c.1855C>G p.P619A Substitution - Missense Soft_tissue COSM5762853 CREBBP c.4459C>A p.H1487N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5763385 KMT2C c.14586T>G p.F4862L Substitution - Missense Large_intestine COSM5762262 ATRX c.1436_1436delC p.P479fs*35 Deletion - Frameshift Central_nervous_system COSM5779948 BPTF c.8282G>A p.R2761Q Substitution - Missense Breast COSM5809483 TAF1L c.4425T>C p.S1475S Substitution - coding silent Liver COSM5820627 PHF14 c.2103A>C p.R701R Substitution - coding silent Liver COSM5944806 EP300 c.5009_5010insG p.C1670fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5950336 BAZ2B c.3198G>A p.M1066I Substitution - Missense Prostate COSM5898332 JHDM1D c.1484C>T p.S495L Substitution - Missense Skin COSM5925290 L3MBTL3 c.2124G>A p.W708* Substitution - Nonsense Skin COSM5912408 EYA4 c.1738+6G>A p.? Unknown Skin COSM5892643 PRDM16 c.1450G>A p.G484S Substitution - Missense Skin COSM5984832 EYA1 c.1051G>A p.D351N Substitution - Missense Upper_aerodigestive_tract COSM5995589 PHF17 c.2374A>G p.S792G Substitution - Missense Prostate COSM5969913 KAT6B c.3289_3294delGAAGAA p.E1103_E1104delEE Deletion - In frame Upper_aerodigestive_tract COSM52003 TET2 c.? p.V1199I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53171 TET2 c.? p.Q910* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM85769 EZH2 c.? p.Y646? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM1716772 TET2 c.? p.Q916* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Central_nervous_system COSM210738 MSH6 c.? p.V509A Substitution - Missense Skin COSM35861 HNF1A c.60delG p.L21fs*1 Deletion - Frameshift Liver COSM4428872 BAZ1B c.2418A>G p.K806K Substitution - coding silent Oesophagus COSM5993374 TDRD5 c.51A>T p.S17S Substitution - coding silent Prostate COSM5352318 ARID1A c.? p.? Unknown Endometrium COSM1364814 PHC1 c.2648delG p.G884fs*21 Deletion - Frameshift Large_intestine COSM251424 ARID2 c.1802G>A p.R601Q Substitution - Missense Liver COSM5878750 DNMT3A c.2415G>C p.L805F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM21481 HNF1A c.872_873insC p.G292fs*25 Insertion - Frameshift Liver COSM51991 BAP1 c.516C>G p.S172R Substitution - Missense Eye COSM4543936 TDRD7 c.346G>A p.E116K Substitution - Missense Skin COSM216867 KDM6A c.1819G>A p.V607M Substitution - Missense Pancreas COSM3991222 DNMT3A c.1226G>A p.W409* Substitution - Nonsense Kidney COSM1187875 EHMT1 c.3677G>T p.R1226L Substitution - Missense Lung COSM1225385 SETD7 c.763-2A>G p.? Unknown Large_intestine COSM1613551 BAZ2B c.5614A>G p.I1872V Substitution - Missense Liver COSM4467933 TP53BP1 c.1500C>T p.S500S Substitution - coding silent Skin COSM1618132 SETD5_ENST00000402198 c.359T>C p.L120P Substitution - Missense Liver COSM4776257 INO80B c.56G>A p.G19D Substitution - Missense Soft_tissue COSM1316876 BAZ2B c.3957A>T p.E1319D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1751407 NCOA6 c.652G>A p.D218N Substitution - Missense Urinary_tract COSM97171 PRDM1 c.1706G>A p.C569Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4904579 KDM3B c.3725C>T p.S1242F Substitution - Missense Skin COSM4022286 TDRKH c.1092A>G p.L364L Substitution - coding silent Stomach COSM684728 JMJD1C c.3338G>C p.R1113T Substitution - Missense Lung COSM362528 HDAC9 c.553C>A p.H185N Substitution - Missense Lung COSM3413593 TAF1L c.3391A>G p.K1131E Substitution - Missense Stomach COSM330230 KMT2A c.203delG p.G68fs*82 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Small_intestine COSM2183875 TDRKH c.716_717insA p.N239fs*5 Insertion - Frameshift Large_intestine COSM1169690 TET2 c.? p.N1156I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3402319 CREBBP c.3575T>C p.V1192A Substitution - Missense Central_nervous_system COSM4660054 ADNP c.2715C>T p.N905N Substitution - coding silent Large_intestine COSM5417529 ATRX c.2720G>A p.R907Q Substitution - Missense Endometrium COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM3731429 SMARCC2 c.3128_3129insC p.G1044fs*33 Insertion - Frameshift Breast COSM4648102 BAHCC1 c.369C>T p.Y123Y Substitution - coding silent Large_intestine COSM5692049 PHF20 c.2593G>T p.D865Y Substitution - Missense Soft_tissue COSM1671592 NIPBL c.7333G>C p.E2445Q Substitution - Missense Lung COSM4990252 KMT2D c.6720C>T p.V2240V Substitution - coding silent Skin COSM4166111 ATF7IP c.1856T>C p.L619S Substitution - Missense Kidney COSM3937541 PHF23 c.975C>T p.D325D Substitution - coding silent Oesophagus COSM470606 RTF1 c.723G>A p.R241R Substitution - coding silent Central_nervous_system COSM1026063 NCOA6 c.5189G>A p.R1730Q Substitution - Missense Peritoneum COSM5358420 KMT2C c.14530G>A p.A4844T Substitution - Missense Large_intestine COSM4572729 ATAT1 c.845T>A p.L282H Substitution - Missense Skin COSM1186203 HDAC11 c.793G>C p.G265R Substitution - Missense Lung COSM1257793 KMT2C c.7397A>G p.Y2466C Substitution - Missense Oesophagus COSM4146786 SETD8 c.364G>C p.G122R Substitution - Missense Bone COSM4726209 SIRT5 c.460C>A p.L154I Substitution - Missense Large_intestine COSM4597500 CREBBP c.6146C>A p.A2049D Substitution - Missense Upper_aerodigestive_tract COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM20551 TRRAP c.5117G>A p.R1706H Substitution - Missense Large_intestine COSM895018 PRDM2 c.3173C>A p.S1058Y Substitution - Missense Endometrium COSM5010035 TRRAP c.2794A>G p.K932E Substitution - Missense Large_intestine COSM5801450 CHD6 c.2574_2575insA p.T859fs*14 Insertion - Frameshift Breast COSM4746677 SMARCA4 c.3363_3366delTAAA p.K1122fs*17 Deletion - Frameshift Stomach COSM5623122 KDM2B c.2731delG p.E911fs*29 Deletion - Frameshift Oesophagus COSM5757615 BAP1 c.? p.C91F Substitution - Missense Kidney COSM238817 APOBEC1 c.304G>C p.E102Q Substitution - Missense Prostate COSM268716 ASH1L c.5943C>A p.P1981P Substitution - coding silent Large_intestine COSM5693415 SMEK1 c.1358_1359+8delATGTAAGCCA p.? Unknown Soft_tissue COSM1109681 KDM4C c.2885T>C p.I962T Substitution - Missense Endometrium COSM1663468 PHC3 c.2531C>T p.A844V Substitution - Missense Kidney COSM4661143 ALKBH3 c.17G>A p.R6Q Substitution - Missense Large_intestine COSM1034513 EP300 c.746A>G p.N249S Substitution - Missense Endometrium COSM3734554 NCOA6 c.2825_2828delAGGC p.E942fs*91 Deletion - Frameshift Pancreas COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3430899 PHIP c.3928C>T p.R1310C Substitution - Missense Skin COSM3707845 ADNP c.332A>G p.Y111C Substitution - Missense Liver COSM1381129 NCOR1 c.3098C>T p.P1033L Substitution - Missense Large_intestine COSM1344510 RERE c.4019C>T p.A1340V Substitution - Missense Large_intestine COSM1454649 ATAD2 c.1590_1591insT p.D531fs*1 Insertion - Frameshift Large_intestine COSM1635108 SND1 c.510A>T p.S170S Substitution - coding silent Liver COSM3525422 ASXL3 c.529C>T p.H177Y Substitution - Missense Skin COSM4829132 AIRE c.946C>T p.R316W Substitution - Missense Cervix COSM4169295 ARID1A c.? p.A134fs*266 Unknown Biliary_tract COSM5785203 BRWD3 c.331+5G>T p.? Unknown Breast COSM4991531 EP300 c.4136A>G p.Q1379R Substitution - Missense Skin COSM87008 DNMT3A c.2210T>G p.L737R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5795354 MEN1 c.800T>G p.L267R Substitution - Missense Breast COSM3406619 BRWD3 c.4252C>T p.R1418* Substitution - Nonsense Large_intestine COSM5707674 EP300 c.1933G>T p.E645* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3774230 BAG6 c.1855T>C p.S619P Substitution - Missense Soft_tissue COSM4135442 BRD8 c.809T>G p.L270R Substitution - Missense Pancreas COSM5725490 ZBTB4 c.181A>C p.T61P Substitution - Missense Skin COSM1391828 GATAD2A c.1406G>A p.R469H Substitution - Missense Large_intestine COSM5439017 EYA1 c.1096A>C p.I366L Substitution - Missense Oesophagus COSM981685 AKAP1 c.1740C>T p.S580S Substitution - coding silent Endometrium COSM5793928 CHD8 c.3541G>A p.G1181R Substitution - Missense Breast COSM983299 BPTF c.2168G>C p.R723P Substitution - Missense Endometrium COSM4595316 RING1 c.1008T>G p.G336G Substitution - coding silent Upper_aerodigestive_tract COSM51464 ARID1A c.1627C>T p.Q543* Substitution - Nonsense Ovary COSM1311074 PRDM9 c.1377G>A p.R459R Substitution - coding silent Urinary_tract COSM4162002 KMT2C c.2656C>T p.R886C Substitution - Missense Thyroid COSM3629176 PHF3 c.1256C>T p.S419L Substitution - Missense Skin COSM4488995 EHMT2 c.3417C>T p.F1139F Substitution - coding silent Skin COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3582346 SMEK2 c.1305T>A p.V435V Substitution - coding silent Skin COSM3430824 PHF3 c.2833G>T p.D945Y Substitution - Missense Large_intestine COSM5430456 PHF14 c.532A>G p.S178G Substitution - Missense Oesophagus COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1260672 ORC1 c.1777A>G p.T593A Substitution - Missense Oesophagus COSM3717093 CDYL2 c.1000G>T p.A334S Substitution - Missense Liver COSM132884 EZH2 c.2152_2153delAA p.K718fs*12 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3349889 PHF1 c.307C>T p.R103W Substitution - Missense Skin COSM3861742 BAG6 c.2618T>C p.L873P Substitution - Missense Stomach COSM5921324 CXXC1 c.1367C>T p.A456V Substitution - Missense Skin COSM4694959 KDM4B c.170G>A p.R57Q Substitution - Missense Large_intestine COSM2067821 ARID2 c.1900C>G p.P634A Substitution - Missense Skin COSM1465254 ZBTB33 c.1955T>A p.I652N Substitution - Missense Large_intestine COSM4438089 PRDM16 c.1509G>A p.A503A Substitution - coding silent Oesophagus COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4826018 PRMT7 c.392-1G>A p.? Unknown Cervix COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM961531 MGA c.7420C>T p.R2474C Substitution - Missense Endometrium COSM1308216 L3MBTL2 c.1938G>A p.K646K Substitution - coding silent Urinary_tract COSM1087570 KMT2C c.7571G>A p.R2524K Substitution - Missense Endometrium COSM914342 ASXL1 c.? p.Y591* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM683491 RNF134 c.4G>C p.E2Q Substitution - Missense Lung COSM5754841 SRCAP c.5263G>A p.A1755T Substitution - Missense Large_intestine COSM377727 SND1 c.377C>T p.S126L Substitution - Missense Lung COSM3747935 AICDA c.431A>T p.Y144F Substitution - Missense Central_nervous_system COSM3755439 PCGF2 c.435C>T p.D145D Substitution - coding silent Large_intestine COSM724354 NCOA3 c.2410C>T p.L804F Substitution - Missense Lung COSM2095561 TDRD5 c.2260G>A p.G754R Substitution - Missense Skin COSM5355832 PRDM5 c.981G>T p.K327N Substitution - Missense Large_intestine COSM1462656 KIAA2026_ENST00000399933 c.1025C>A p.S342* Substitution - Nonsense Large_intestine COSM5595598 ZMYM4 c.2077C>T p.L693F Substitution - Missense Skin COSM4003461 NSD1 c.6829T>C p.L2277L Substitution - coding silent Soft_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52894 PBRM1 c.253delT p.Y85fs*10 Deletion - Frameshift Kidney COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM226129 PRDM9 c.2358A>C p.R786S Substitution - Missense Skin COSM5747873 MYST2 c.262A>G p.T88A Substitution - Missense Pancreas COSM1701032 TAF1L c.3772G>A p.E1258K Substitution - Missense Skin COSM3801356 TRIM33 c.570G>T p.Q190H Substitution - Missense Breast COSM51200 ASXL1 c.1888_1910del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM236711 CHD2 c.2782C>T p.R928W Substitution - Missense Prostate COSM1245623 ATAD2B_ENST00000238789 c.3264A>G p.S1088S Substitution - coding silent Stomach COSM2036988 PHRF1 c.2840C>T p.S947F Substitution - Missense Liver COSM445987 TBL1XR1 c.422_423delTA p.I141fs*3 Deletion - Frameshift Breast COSM1109441 KIAA2026_ENST00000399933 c.4507G>A p.A1503T Substitution - Missense Endometrium COSM5774004 KDM5A c.3330G>A p.L1110L Substitution - coding silent Breast COSM5700957 KIAA2026_ENST00000399933 c.2519A>G p.Y840C Substitution - Missense Soft_tissue COSM4949786 ARID2 c.4031_4032ins68 p.I1344fs*5 Insertion - Frameshift Liver COSM5721616 PHRF1 c.2982C>T p.S994S Substitution - coding silent Skin COSM3387481 FTO c.1477G>A p.V493I Substitution - Missense Pancreas COSM4601501 TTF2 c.914A>G p.Q305R Substitution - Missense Upper_aerodigestive_tract COSM4839351 HDAC3 c.803G>A p.C268Y Substitution - Missense Cervix COSM96922 IDH1 c.367G>A p.G123R Substitution - Missense Thyroid COSM5346996 ARID1A c.4811C>A p.S1604Y Substitution - Missense Endometrium COSM5349624 KMT2A c.8793G>T p.L2931L Substitution - coding silent Lung COSM99742 DNMT3A c.2191_2193delTTC p.F731del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM3741395 RERE c.4406C>A p.P1469H Substitution - Missense Liver COSM180750 SMARCA4 c.1142G>A p.R381Q Substitution - Missense Large_intestine COSM211728 TET2 c.3965T>A p.L1322Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM317186 CREBBP c.1157_1158insCATTGTCG p.T387fs*5 Insertion - Frameshift Lung COSM3679915 CHD9 c.4065G>A p.L1355L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4704133 MUM1 c.979_980insC p.G329fs*55 Insertion - Frameshift Large_intestine COSM3805963 RERE c.2113G>A p.D705N Substitution - Missense Breast COSM4884549 PRDM9 c.652G>T p.A218S Substitution - Missense Upper_aerodigestive_tract COSM4471800 GATAD2B c.1742C>G p.P581R Substitution - Missense Skin COSM1627248 BRDT c.1908A>T p.R636R Substitution - coding silent Liver COSM4155170 BAG6 c.1891C>A p.P631T Substitution - Missense Kidney COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4679195 DOT1L c.956G>A p.R319H Substitution - Missense Large_intestine COSM3885454 TDRD3 c.1178C>T p.P393L Substitution - Missense Skin COSM1186626 TET2 c.2703T>G p.N901K Substitution - Missense Lung COSM1342117 ZMYM1 c.2365C>T p.R789* Substitution - Nonsense Large_intestine COSM133126 DNMT3A c.2204A>G p.Y735C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM137856 SFMBT1 c.2461G>A p.E821K Substitution - Missense Skin COSM384371 NCOA1 c.4184A>T p.D1395V Substitution - Missense Lung COSM4618043 PCNA c.400A>G p.S134G Substitution - Missense Large_intestine COSM4479057 AICDA c.228C>T p.Y76Y Substitution - coding silent Skin COSM4002747 PBRM1 c.3597A>T p.P1199P Substitution - coding silent Soft_tissue COSM4656640 PRDM16 c.2468G>C p.R823P Substitution - Missense Large_intestine COSM159181 ARID4A c.3763G>C p.E1255Q Substitution - Missense Cervix COSM1054442 WHSC1 c.2802G>A p.A934A Substitution - coding silent Endometrium COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM4926479 KIAA2026_ENST00000399933 c.2061G>T p.K687N Substitution - Missense Liver COSM302446 JMJD1C c.2830A>G p.I944V Substitution - Missense Central_nervous_system COSM993 SMARCB1 c.601C>T p.R201* Substitution - Nonsense Central_nervous_system COSM5014970 PHRF1 c.1346C>A p.S449Y Substitution - Missense Kidney COSM437697 KDM6B c.753_761delACCACCACC p.P262_P264delPPP Deletion - In frame Upper_aerodigestive_tract COSM3362396 KDM6B c.3652C>A p.L1218M Substitution - Missense Kidney COSM3901330 PRDM14 c.276G>T p.L92L Substitution - coding silent Stomach COSM4092802 ATAD2B_ENST00000238789 c.2416T>C p.S806P Substitution - Missense Stomach COSM1262043 PHF19 c.780G>A p.W260* Substitution - Nonsense Stomach COSM1626097 TAF1 c.226A>G p.S76G Substitution - Missense Liver COSM1109468 KIAA2026_ENST00000399933 c.2383G>C p.G795R Substitution - Missense Endometrium COSM2230146 PRDM2 c.4066G>A p.A1356T Substitution - Missense Large_intestine COSM3751454 BRDT c.1230C>G p.N410K Substitution - Missense Large_intestine COSM220419 L3MBTL4 c.50G>A p.R17H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5784133 SIRT5 c.167T>A p.I56N Substitution - Missense Breast COSM1406755 HDAC4 c.898C>T p.P300S Substitution - Missense Large_intestine COSM4040540 ATF7IP c.2448C>A p.F816L Substitution - Missense Stomach COSM5551382 PCGF1 c.210C>T p.C70C Substitution - coding silent Prostate COSM4044331 CHD4 c.3314G>A p.R1105Q Substitution - Missense Ovary COSM1460904 WDR5 c.641_642insC p.V217fs*42 Insertion - Frameshift Large_intestine COSM224593 NCOA6 c.361G>A p.D121N Substitution - Missense Skin COSM88741 CREBBP c.4444T>C p.Y1482H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4548353 NCOA6 c.4452G>A p.M1484I Substitution - Missense Skin COSM4169530 TET2 c.? p.R1359C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4650517 KDM4B c.1197G>A p.A399A Substitution - coding silent Large_intestine COSM3935777 HNF1A c.1772C>A p.S591Y Substitution - Missense Oesophagus COSM4414904 SP100 c.1766-4G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM97131 IDH1 c.532G>A p.V178I Substitution - Missense Thyroid COSM255810 SMARCA1 c.1714C>T p.L572L Substitution - coding silent Central_nervous_system COSM5765927 PRDM9 c.1696C>G p.H566D Substitution - Missense Large_intestine COSM1470609 HNF1A c.1014C>T p.G338G Substitution - coding silent Stomach COSM3376272 KMT2D c.14187C>T p.G4729G Substitution - coding silent Pancreas COSM4470200 JARID2 c.1647C>T p.A549A Substitution - coding silent Skin COSM4804589 UHRF2 c.621T>C p.V207V Substitution - coding silent Liver COSM126316 SMARCA2 c.2542A>T p.M848L Substitution - Missense Upper_aerodigestive_tract COSM5752471 KMT2C c.1193delG p.G398fs*7 Deletion - Frameshift Breast COSM1235456 BAP1 c.568_569CC>T p.P190fs*41 Deletion - Frameshift Skin COSM3753060 EP400 c.7905C>T p.P2635P Substitution - coding silent Large_intestine COSM4681087 EP300 c.1369A>G p.S457G Substitution - Missense Large_intestine COSM4702428 KMT2D c.9386A>C p.Q3129P Substitution - Missense Large_intestine COSM43493 TET2 c.? p.G1361S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1073182 L3MBTL3 c.1571C>A p.S524Y Substitution - Missense Endometrium COSM4383758 TET2 c.397delC p.P133fs*12 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5791039 FXR1 c.1714G>A p.E572K Substitution - Missense Breast COSM1568481 HDAC9 c.2909C>A p.A970D Substitution - Missense Large_intestine COSM4677497 DIDO1 c.6249C>T p.F2083F Substitution - coding silent Large_intestine COSM932710 EED c.607C>A p.P203T Substitution - Missense Endometrium COSM696351 TDRD3 c.610G>T p.E204* Substitution - Nonsense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5345394 BAZ1B c.607A>T p.T203S Substitution - Missense Large_intestine COSM3710804 MBD6 c.2466C>T p.L822L Substitution - coding silent Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2178792 TTF2 c.1033C>T p.R345C Substitution - Missense Skin COSM955465 BAZ1A c.2406C>A p.I802I Substitution - coding silent Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5573305 EYA1 c.1475+1G>A p.? Unknown Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM138478 NIPBL c.3451C>T p.P1151S Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4547931 MGA c.434G>A p.S145N Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM22576 MEN1 c.654+3A>G p.? Unknown Lung COSM3604590 CLOCK c.616G>A p.E206K Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3360866 ZMYM1 c.627A>C p.K209N Substitution - Missense Kidney COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1158713 CTCF c.3G>T p.M1I Substitution - Missense Pancreas COSM4894748 KDM3B c.4636T>C p.L1546L Substitution - coding silent Skin COSM292731 CHD1 c.3960delA p.E1321fs*22 Deletion - Frameshift Large_intestine COSM3465560 APOBEC1 c.55G>A p.E19K Substitution - Missense Skin COSM30577 SMARCA4 c.2653C>T p.R885C Substitution - Missense Large_intestine COSM404209 KDM5D c.379G>T p.A127S Substitution - Missense Lung COSM5987480 BAZ2A_ENST00000379441 c.2034G>C p.K678N Substitution - Missense Salivary_gland COSM211627 TET2 c.4714C>T p.R1572W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4475323 LMNA c.197C>T p.S66F Substitution - Missense Skin COSM4429891 ALKBH1 c.1000T>C p.L334L Substitution - coding silent Oesophagus COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM4574654 DPF2 c.219C>T p.S73S Substitution - coding silent Bone COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM751051 CHD7 c.4837C>T p.L1613L Substitution - coding silent Lung COSM1080974 PHF3 c.5806G>T p.E1936* Substitution - Nonsense Endometrium COSM51981 BAP1 c.2015A>G p.D672G Substitution - Missense Eye COSM1100806 CHD7 c.3475G>T p.E1159* Substitution - Nonsense Endometrium COSM320131 EP300 c.4364A>G p.Q1455R Substitution - Missense Lung COSM1614666 DNMT3A c.2530A>G p.K844E Substitution - Missense Liver COSM251399 ARID1A c.2632C>T p.Q878* Substitution - Nonsense Biliary_tract COSM5519754 DIDO1 c.2237G>A p.R746H Substitution - Missense Biliary_tract COSM745477 TIF1 c.1772C>T p.P591L Substitution - Missense Skin COSM5715555 SRCAP c.4123C>T p.L1375F Substitution - Missense Skin COSM4590338 SIRT6 c.671A>C p.N224T Substitution - Missense Upper_aerodigestive_tract COSM21039 TAF1L c.219G>T p.L73L Substitution - coding silent Skin COSM3467888 RNF17 c.997G>A p.E333K Substitution - Missense Skin COSM1682351 BRD1 c.94A>G p.T32A Substitution - Missense Large_intestine COSM3735023 SMARCA4 c.2838_2838delC p.F947fs*3 Deletion - Frameshift Ovary COSM52996 EZH2 c.619C>T p.R207* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5384870 CREBBP c.2961G>A p.Q987Q Substitution - coding silent Skin COSM3829228 SHPRH c.2853G>A p.K951K Substitution - coding silent Breast COSM1356352 KDM2A c.443T>G p.F148C Substitution - Missense Large_intestine COSM5946752 PHF8 c.1133T>G p.I378S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Biliary_tract COSM29148 KDM6A c.2312G>A p.G771D Substitution - Missense Kidney COSM33091 EYA4 c.455T>G p.L152R Substitution - Missense Stomach COSM37030 EZH2 c.1936T>C p.Y646H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43442 TET2 c.5104C>T p.Q1702* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41875 IDH2 c.419G>T p.R140L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM79961 HDAC11 c.288C>T p.P96P Substitution - coding silent Ovary COSM74021 CBX3 c.2T>G p.M1R Substitution - Missense Ovary COSM98347 BAZ1B c.3946C>T p.Q1316* Substitution - Nonsense Upper_aerodigestive_tract COSM109363 MTA2 c.299C>T p.T100I Substitution - Missense Skin COSM133672 IDH2 c.516G>C p.R172S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM221104 KMT2D c.2371_2372insG p.V791fs*4 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Soft_tissue COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Soft_tissue COSM218987 SMARCA2 c.2759C>T p.T920I Substitution - Missense Pancreas COSM211736 TET2 c.4636C>T p.Q1546* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM234232 EYA1 c.264C>A p.Y88* Substitution - Nonsense Stomach COSM254672 EP300 c.4352A>T p.H1451L Substitution - Missense Urinary_tract COSM269013 DIDO1 c.633C>T p.G211G Substitution - coding silent Large_intestine COSM252981 CREBBP c.3370-4delT p.? Unknown Ovary COSM286724 ZMYM6 c.428+7A>C p.? Unknown Large_intestine COSM302352 HDAC2 c.1364_1365delAG p.E455fs*7 Deletion - Frameshift Central_nervous_system COSM309526 BRDT c.115G>T p.V39F Substitution - Missense Soft_tissue COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Large_intestine COSM303613 ZMYM3 c.120C>A p.A40A Substitution - coding silent Central_nervous_system COSM307325 BAZ2B c.1277A>G p.E426G Substitution - Missense Liver COSM429447 MTA2 c.1068G>A p.M356I Substitution - Missense Breast COSM435529 CTCF c.573G>A p.W191* Substitution - Nonsense Breast COSM438074 ASXL3 c.2066T>A p.I689K Substitution - Missense Breast COSM431538 BAZ2A c.1073T>G p.L358R Substitution - Missense Breast COSM458787 KAT6B c.4041C>T p.L1347L Substitution - coding silent Cervix COSM466406 KMT2A c.11261A>G p.N3754S Substitution - Missense Kidney COSM478584 BRWD1 c.6641G>T p.S2214I Substitution - Missense Kidney COSM486575 CHD7 c.7892G>A p.R2631Q Substitution - Missense Skin COSM537895 PWWP2B c.303A>C p.P101P Substitution - coding silent Thyroid COSM1023490 KDM3A c.561C>A p.D187E Substitution - Missense Upper_aerodigestive_tract COSM1026314 PHF20 c.2601G>A p.A867A Substitution - coding silent Stomach COSM1027968 ADNP c.2196A>T p.L732F Substitution - Missense Endometrium COSM745825 KMT2C c.915G>C p.M305I Substitution - Missense Lung COSM896907 ASH1L c.7731C>T p.D2577D Substitution - coding silent Endometrium COSM896922 ASH1L c.4568C>T p.A1523V Substitution - Missense Endometrium COSM926019 SIRT3 c.366G>T p.K122N Substitution - Missense Endometrium COSM958936 UBR7 c.1012G>A p.V338I Substitution - Missense Endometrium COSM958937 UBR7 c.1024G>T p.E342* Substitution - Nonsense Endometrium COSM961351 INOC1 c.3226C>A p.L1076M Substitution - Missense Endometrium COSM1045421 SETD2 c.6058T>C p.Y2020H Substitution - Missense Endometrium COSM1075348 ARID1B c.3510C>A p.S1170S Substitution - coding silent Endometrium COSM1067060 PRDM9 c.272C>A p.S91Y Substitution - Missense Endometrium COSM1125438 ATRX c.4389G>A p.E1463E Substitution - coding silent Endometrium COSM1125497 ATRX c.1821A>C p.E607D Substitution - Missense Endometrium COSM1137064 PBRM1 c.4387C>T p.Q1463* Substitution - Nonsense Kidney COSM1099917 MYST3 c.4651A>G p.S1551G Substitution - Missense Endometrium COSM1081846 PHIP c.4486G>A p.G1496S Substitution - Missense Endometrium COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1166773 PRDM2 c.849_850delTG p.D283fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1163731 ADNP c.3047delA p.K1016fs*11 Deletion - Frameshift Large_intestine COSM1265349 SETD6 c.1128G>C p.L376L Substitution - coding silent Oesophagus COSM1192907 ZMYM6 c.2405_2406insT p.E805fs*1 Insertion - Frameshift Lung COSM1158616 TAF1 c.4665+1G>A p.? Unknown Pancreas COSM1315707 ATRX c.796T>A p.Y266N Substitution - Missense Urinary_tract COSM1295856 SMYD2 c.955G>A p.E319K Substitution - Missense Urinary_tract COSM1303245 BPTF c.7450C>T p.H2484Y Substitution - Missense Urinary_tract COSM1390291 SMARCA4 c.4887T>C p.D1629D Substitution - coding silent Large_intestine COSM1371930 SETD3 c.1378C>T p.R460C Substitution - Missense Large_intestine COSM1416625 TCF20 c.1775C>T p.S592L Substitution - Missense Large_intestine COSM1427324 SMARCA5 c.3118G>A p.A1040T Substitution - Missense Large_intestine COSM1457142 MYST3 c.1041G>A p.T347T Substitution - coding silent Large_intestine COSM1440683 SIRT5 c.657C>T p.H219H Substitution - coding silent Large_intestine COSM1342104 ZMYM6 c.925G>T p.V309F Substitution - Missense Large_intestine COSM1353171 PRMT3 c.1149G>T p.W383C Substitution - Missense Large_intestine COSM1569705 SMARCA1 c.608A>G p.N203S Substitution - Missense Large_intestine COSM1610986 SIRT7 c.613G>T p.V205L Substitution - Missense Liver COSM1615601 CHD6 c.1837G>C p.G613R Substitution - Missense Liver COSM1614600 HDAC4 c.1144C>A p.Q382K Substitution - Missense Liver COSM1615523 PHF20 c.2896G>A p.V966M Substitution - Missense Liver COSM1623989 WHSC1L1 c.977G>C p.R326P Substitution - Missense Liver COSM1683028 HCFC1 c.5665C>T p.R1889C Substitution - Missense Large_intestine COSM1725124 PBRM1 c.3530G>T p.G1177V Substitution - Missense Liver COSM1737875 ASXL1 c.3595G>A p.A1199T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1757092 SMARCC1 c.2476G>A p.E826K Substitution - Missense Urinary_tract COSM1739488 NCOA2 c.79G>A p.G27R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2029974 CHD8 c.5998C>T p.R2000C Substitution - Missense Large_intestine COSM2171221 KDM4A c.1945C>T p.P649S Substitution - Missense Oesophagus COSM2772177 TAF1L c.5330G>A p.G1777E Substitution - Missense Large_intestine COSM2828731 SETD5_ENST00000402198 c.267A>T p.V89V Substitution - coding silent Upper_aerodigestive_tract COSM2874569 NCOA2 c.3718A>G p.R1240G Substitution - Missense Large_intestine COSM3053443 SMEK2 c.1116G>T p.M372I Substitution - Missense Large_intestine COSM3206335 FXR1 c.1298G>A p.R433Q Substitution - Missense Large_intestine COSM3296309 EPC2 c.2109C>T p.T703T Substitution - coding silent Upper_aerodigestive_tract COSM3365424 TET2 c.949C>A p.Q317K Substitution - Missense Kidney COSM3392494 BAP1 c.1526C>A p.S509* Substitution - Nonsense Pancreas COSM3379184 BRWD1 c.5427T>C p.N1809N Substitution - coding silent Pancreas COSM3469193 SETDB2 c.1074C>T p.N358N Substitution - coding silent Skin COSM3447091 RAG2 c.892G>A p.E298K Substitution - Missense Skin COSM3614490 NSD1 c.56C>T p.P19L Substitution - Missense Skin COSM3598257 BRPF1 c.2715G>A p.P905P Substitution - coding silent Skin COSM3608873 BRD8 c.3559C>T p.H1187Y Substitution - Missense Skin COSM3545565 NCOA6 c.1249C>T p.P417S Substitution - Missense Skin COSM3545805 PHF20 c.2634C>T p.S878S Substitution - coding silent Skin COSM3554481 CBX7 c.650C>T p.S217L Substitution - Missense Skin COSM3736947 BAP1 c.155G>A p.W52* Substitution - Nonsense Skin COSM3723185 PRDM14 c.958G>A p.G320S Substitution - Missense Upper_aerodigestive_tract COSM3713462 MBD5 c.2884C>T p.Q962* Substitution - Nonsense Upper_aerodigestive_tract COSM3795754 MYST2 c.261G>A p.V87V Substitution - coding silent Urinary_tract COSM3792641 KMT2D c.2410A>T p.K804* Substitution - Nonsense Urinary_tract COSM3861638 TCF19 c.373C>T p.R125* Substitution - Nonsense Stomach COSM3920950 JARID2 c.1772C>T p.P591L Substitution - Missense Skin COSM3915324 MECOM c.772C>T p.P258S Substitution - Missense Skin COSM3901374 EYA1 c.1395G>T p.L465L Substitution - coding silent Stomach COSM3876898 MLL5 c.457C>T p.H153Y Substitution - Missense Stomach COSM3899932 ASH2L c.384A>T p.T128T Substitution - coding silent Stomach COSM4015503 SFMBT2 c.1639A>C p.R547R Substitution - coding silent Stomach COSM4040549 ATF7IP c.3390T>C p.H1130H Substitution - coding silent Stomach COSM3994208 NSD1 c.5349C>T p.N1783N Substitution - coding silent Kidney COSM3999038 ZMYM5 c.691A>G p.T231A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3986926 ARID2 c.3010A>T p.S1004C Substitution - Missense Kidney COSM4113233 RUVBL1 c.860T>C p.I287T Substitution - Missense Stomach COSM4092803 ATAD2B_ENST00000238789 c.2377A>C p.R793R Substitution - coding silent Stomach COSM4106229 ZBTB33 c.1529G>A p.R510Q Substitution - Missense Stomach COSM4077676 DPF1 c.481G>A p.D161N Substitution - Missense Stomach COSM4151719 BPTF c.6260-10G>C p.? Unknown Kidney COSM4156381 PHF21B c.418G>A p.A140T Substitution - Missense Thyroid COSM4156402 BRD1 c.3023C>G p.P1008R Substitution - Missense Thyroid COSM4170171 TET2 c.2147_2148delCA p.H717fs*5 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4187742 SMARCA4 c.2717G>T p.R906L Substitution - Missense Kidney COSM4384590 KMT2A c.3810G>C p.K1270N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4409674 CHD2 c.2937C>T p.L979L Substitution - coding silent Oesophagus COSM4517377 MYST3 c.3305_3306GG>AA p.R1102K Substitution - Missense Skin COSM4517775 CBX2 c.417_418CC>TT p.H140Y Substitution - Missense Skin COSM4508580 EYA2 c.780C>T p.S260S Substitution - coding silent Skin COSM4590278 KDM2A c.310A>G p.S104G Substitution - Missense Soft_tissue COSM4493971 DNMT1 c.4200C>T p.L1400L Substitution - coding silent Skin COSM4591270 KMT2C c.2512G>A p.G838S Substitution - Missense Upper_aerodigestive_tract COSM4678911 DNMT3B c.474G>A p.W158* Substitution - Nonsense Large_intestine COSM4769354 LMNB1 c.269G>A p.R90Q Substitution - Missense Cervix COSM4730997 SUV420H1 c.694G>A p.A232T Substitution - Missense Large_intestine COSM4762576 SETDB1 c.2885C>G p.S962* Substitution - Nonsense Liver COSM4764961 SMYD3 c.925G>A p.V309I Substitution - Missense Stomach COSM4641562 RSF1 c.2506A>G p.K836E Substitution - Missense Large_intestine COSM4643774 RNF17 c.1901A>G p.D634G Substitution - Missense Large_intestine COSM4613504 SUV420H2 c.335delC p.T112fs*42 Deletion - Frameshift Large_intestine COSM4881208 SRCAP c.3499C>T p.Q1167* Substitution - Nonsense Upper_aerodigestive_tract COSM4944233 PHC1 c.456+8A>G p.? Unknown Liver COSM4829436 PRDM9 c.14A>T p.K5M Substitution - Missense Cervix COSM4835468 BPTF c.4690G>A p.E1564K Substitution - Missense Cervix COSM4832150 PHF8 c.1255G>A p.E419K Substitution - Missense Cervix COSM5002347 TET2 c.1310A>C p.Y437S Substitution - Missense Pancreas COSM5019449 ERCC6 c.411G>A p.L137L Substitution - coding silent Soft_tissue COSM5020218 KMT2C c.12099G>A p.P4033P Substitution - coding silent Soft_tissue COSM5020442 CREBBP c.4280+8T>C p.? Unknown Soft_tissue COSM5055570 MYST2 c.1586G>A p.R529H Substitution - Missense Stomach COSM5355593 ATXN7 c.243C>T p.R81R Substitution - coding silent Large_intestine COSM5512490 CHD7 c.7958G>A p.R2653Q Substitution - Missense Skin COSM5473397 KMT2D c.4973-10C>T p.? Unknown Large_intestine COSM5454593 BPTF c.2464T>C p.L822L Substitution - coding silent Large_intestine COSM5417365 BRDT c.1390G>T p.V464F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5420659 BTAF1 c.3666C>T p.G1222G Substitution - coding silent Prostate COSM5628149 TRRAP c.22G>A p.G8R Substitution - Missense Oesophagus COSM5634482 EP400 c.5635C>T p.R1879C Substitution - Missense Oesophagus COSM5633801 PHRF1 c.516G>C p.E172D Substitution - Missense Oesophagus COSM5636077 BPTF c.3931A>G p.S1311G Substitution - Missense Oesophagus COSM5653293 SMARCA2 c.597C>A p.P199P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5720733 PRDM1 c.1513C>T p.P505S Substitution - Missense Skin COSM5722492 CDYL2 c.62G>A p.G21E Substitution - Missense Skin COSM5723194 AIRE c.1038G>A p.Q346Q Substitution - coding silent Skin COSM5721606 PWWP2B c.1096C>T p.P366S Substitution - Missense Skin COSM5594271 BRPF3 c.2555C>A p.S852Y Substitution - Missense Skin COSM5690184 PHF11 c.690T>G p.L230L Substitution - coding silent Soft_tissue COSM5711664 KDM6A c.3589C>A p.L1197I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5952682 ASH1L c.2120A>G p.K707R Substitution - Missense Oesophagus COSM5945632 HNF1A c.917G>T p.G306V Substitution - Missense Central_nervous_system COSM5942476 MBD6 c.632C>T p.S211F Substitution - Missense Skin COSM5968754 TTF2 c.3448A>G p.K1150E Substitution - Missense Upper_aerodigestive_tract COSM6016883 CBX2 c.1098C>A p.P366P Substitution - coding silent Skin COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM166348 DNMT3A c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52012 TET2 c.? p.Q548L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716177 EZH2 c.? p.Y646H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1121686 PHF16 c.43G>A p.E15K Substitution - Missense Endometrium COSM2889582 DNMT3B c.1613G>A p.R538H Substitution - Missense Large_intestine COSM4627174 RNF17 c.552A>G p.E184E Substitution - coding silent Large_intestine COSM5027167 EHMT1 c.3177C>G p.L1059L Substitution - coding silent Breast COSM364119 SMARCA2 c.4025G>T p.R1342L Substitution - Missense Prostate COSM3877919 SND1 c.2505C>T p.A835A Substitution - coding silent Stomach COSM4789020 MSH6 c.1235A>C p.K412T Substitution - Missense Liver COSM4982236 BRD4 c.2046A>T p.Q682H Substitution - Missense Oesophagus COSM136514 NSD1 c.6542C>T p.S2181F Substitution - Missense Skin COSM36248 IDH1 c.? p.R132? Substitution - Missense Bone COSM3214183 WDR5 c.736G>A p.G246R Substitution - Missense Central_nervous_system COSM4821445 SUV39H2 c.81G>A p.P27P Substitution - coding silent Cervix COSM894484 TTF2 c.577G>T p.E193* Substitution - Nonsense Endometrium COSM1293059 ZMYM3 c.159delC p.S54fs*59 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5134105 PHF19 c.884T>A p.L295H Substitution - Missense Large_intestine COSM5907086 TCF20 c.3793C>T p.P1265S Substitution - Missense Skin COSM52870 PBRM1 c.3625_3642del18 p.M1209_E1214delMFYKKE Deletion - In frame Kidney COSM1676472 KMT2A c.7383G>T p.K2461N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4958552 DIDO1 c.1478G>A p.G493E Substitution - Missense Liver COSM328986 POGZ c.1960C>A p.L654M Substitution - Missense Liver COSM431585 MBD6 c.2632C>T p.R878* Substitution - Nonsense Oesophagus COSM316705 ZMYND8 c.77G>C p.R26P Substitution - Missense Lung COSM4500531 CHD4 c.5682C>T p.S1894S Substitution - coding silent Skin COSM4776070 SMARCA2 c.3605G>T p.G1202V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2909106 HDAC4 c.3017A>G p.Q1006R Substitution - Missense Stomach COSM3369269 SETDB1 c.3610G>A p.E1204K Substitution - Missense Thyroid COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM1732119 PBRM1 c.184G>T p.D62Y Substitution - Missense Kidney COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Biliary_tract COSM1169571 PBRM1 c.4566_4576del11 p.Q1522fs*59 Deletion - Frameshift Kidney COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM255313 SMARCA4 c.2651A>C p.H884P Substitution - Missense Central_nervous_system COSM3362762 GATAD2A c.1346G>T p.G449V Substitution - Missense Kidney COSM1262945 PRDM13 c.73G>A p.G25R Substitution - Missense Oesophagus COSM4635043 ATXN7 c.433T>C p.F145L Substitution - Missense Large_intestine COSM43417 TET2 c.2746C>T p.Q916* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM2820631 AIRE c.947G>A p.R316Q Substitution - Missense Large_intestine COSM4159839 PRDM9 c.2042C>G p.T681S Substitution - Missense Upper_aerodigestive_tract COSM133138 DNMT3A c.2729C>T p.A910V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5569219 SETMAR c.438G>A p.T146T Substitution - coding silent Prostate COSM416942 MGA c.736C>G p.Q246E Substitution - Missense Urinary_tract COSM85916 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM26303 CHD8 c.2504C>T p.A835V Substitution - Missense Skin COSM2041354 KDM2A c.1244C>T p.P415L Substitution - Missense Large_intestine COSM78298 PHF20 c.905G>A p.R302Q Substitution - Missense Ovary COSM5466910 PHF3 c.3205G>T p.E1069* Substitution - Nonsense Large_intestine COSM3619181 PRDM1 c.846C>T p.I282I Substitution - coding silent Skin COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1291512 MSH6 c.4000C>T p.R1334W Substitution - Missense Breast COSM4912906 BAZ1A c.1624T>C p.L542L Substitution - coding silent Liver COSM3361598 CHD2 c.1502A>C p.K501T Substitution - Missense Kidney COSM150428 KMT2C c.2958A>G p.P986P Substitution - coding silent Central_nervous_system COSM3443963 KMT2A c.4791C>T p.S1597S Substitution - coding silent Skin COSM5891176 NCOA6 c.1696C>T p.P566S Substitution - Missense Skin COSM2151577 SMARCD2 c.529C>T p.R177* Substitution - Nonsense Central_nervous_system COSM3718572 KDM3A c.2656C>T p.R886W Substitution - Missense Upper_aerodigestive_tract COSM1318847 ASXL1 c.2197C>T p.Q733* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3724485 ARID1A c.3199-1G>T p.? Unknown Large_intestine COSM2151925 CREBBP c.1256G>A p.W419* Substitution - Nonsense Central_nervous_system COSM1305746 BAZ2B c.3052A>G p.M1018V Substitution - Missense Urinary_tract COSM5930767 TDRD5 c.731C>T p.S244L Substitution - Missense Skin COSM350878 SETD2 c.5509C>T p.H1837Y Substitution - Missense Lung COSM976120 RAI1 c.2200G>A p.A734T Substitution - Missense Endometrium COSM2164481 MEN1 c.939T>A p.Y313* Substitution - Nonsense Prostate COSM4742988 ZMYND8 c.1261T>A p.F421I Substitution - Missense Large_intestine COSM4702430 KMT2D c.9021_9023delGCA p.Q3012delQ Deletion - In frame Large_intestine COSM4073746 DNMT1 c.3691G>T p.G1231C Substitution - Missense Stomach COSM3878496 TRIM24 c.3137G>A p.R1046H Substitution - Missense Stomach COSM1017633 SP100 c.236G>A p.R79H Substitution - Missense Stomach COSM4054578 MGA c.9181C>T p.P3061S Substitution - Missense Skin COSM3362487 AP001011.3_ENST00000320876 c.5879G>A p.G1960D Substitution - Missense Kidney COSM5985454 ASXL1 c.2281G>A p.A761T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4162024 KMT2C c.946A>T p.T316S Substitution - Missense Upper_aerodigestive_tract COSM4957471 INTS12 c.21G>A p.L7L Substitution - coding silent Liver COSM4060396 MYST1 c.1272G>A p.E424E Substitution - coding silent Stomach COSM3878482 TRIM24 c.819A>G p.L273L Substitution - coding silent Stomach COSM3473683 POGZ c.1034C>T p.A345V Substitution - Missense Skin COSM4099062 ZMYND8 c.2891C>T p.A964V Substitution - Missense Stomach COSM5519532 BAHCC1 c.3645C>T p.D1215D Substitution - coding silent Biliary_tract COSM1360183 EP400 c.7129C>T p.R2377* Substitution - Nonsense Large_intestine COSM1645446 MSH6 c.2764C>T p.R922* Substitution - Nonsense Breast COSM3615218 PRDM9 c.1516C>T p.P506S Substitution - Missense Skin COSM5661668 PRDM13 c.150C>A p.R50R Substitution - coding silent Soft_tissue COSM1610663 BPTF c.5429-10A>G p.? Unknown Liver COSM1698225 ARID1B c.3481C>T p.Q1161* Substitution - Nonsense Skin COSM4591167 CBX2 c.1570G>C p.V524L Substitution - Missense Upper_aerodigestive_tract COSM5894679 PRMT1 c.586T>A p.Y196N Substitution - Missense Skin COSM753851 PHF2 c.1084C>G p.Q362E Substitution - Missense Lung COSM3703908 KDM2B c.2140A>T p.S714C Substitution - Missense Liver COSM4835560 NCOR1 c.3602G>A p.R1201K Substitution - Missense Cervix COSM6004417 ZMYND8 c.3228C>T p.S1076S Substitution - coding silent Prostate COSM5566138 SMYD1 c.1384C>T p.R462C Substitution - Missense Prostate COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5589528 ACTL6B c.814G>A p.D272N Substitution - Missense Skin COSM1232743 WHSC1 c.1201C>T p.R401W Substitution - Missense Large_intestine COSM3417981 PRDM2 c.5059C>T p.R1687* Substitution - Nonsense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1685364 SETBP1 c.2612T>C p.I871T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1067089 PRDM9 c.1781T>A p.V594D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1609324 CREBBP c.234C>T p.S78S Substitution - coding silent Liver COSM5055362 SUZ12 c.1722C>A p.L574L Substitution - coding silent Stomach COSM4666107 BRD4 c.1895G>A p.R632H Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3409071 SMARCA5 c.1894A>T p.I632F Substitution - Missense Central_nervous_system COSM921422 BTAF1 c.977G>A p.S326N Substitution - Missense Endometrium COSM3397154 ERCC6 c.2099T>C p.L700S Substitution - Missense Central_nervous_system COSM5797854 SRCAP c.9311T>A p.L3104* Substitution - Nonsense Breast COSM927112 PHF21A c.1111G>C p.V371L Substitution - Missense Endometrium COSM5599096 ASH1L c.8072G>A p.R2691Q Substitution - Missense Skin COSM4702398 KMT2A c.7581delA p.M2529fs*11 Deletion - Frameshift Large_intestine COSM4793490 KAT6B c.3954G>T p.L1318L Substitution - coding silent Liver COSM4933842 BRWD1 c.3474T>C p.G1158G Substitution - coding silent Liver COSM726782 BRD1 c.2109G>T p.L703F Substitution - Missense Lung COSM693908 ARID2 c.1561G>T p.E521* Substitution - Nonsense Lung COSM4890006 GATAD2A c.383C>A p.A128D Substitution - Missense Upper_aerodigestive_tract COSM4156648 FMR1 c.1233T>A p.A411A Substitution - coding silent Thyroid COSM4003461 NSD1 c.6829T>C p.L2277L Substitution - coding silent Soft_tissue COSM4736016 TRIM28 c.1873G>C p.A625P Substitution - Missense Large_intestine COSM1307766 SETD4 c.94G>C p.E32Q Substitution - Missense Urinary_tract COSM1166702 KMT2C c.13432C>T p.R4478* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5892588 HDAC1 c.50G>A p.G17E Substitution - Missense Skin COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5906584 ACTR5 c.907C>T p.R303W Substitution - Missense Skin COSM1076156 PHF10 c.692C>T p.S231L Substitution - Missense Endometrium COSM4773191 SMEK1 c.198G>T p.Q66H Substitution - Missense Stomach COSM5616476 JMJD1C c.6189C>T p.A2063A Substitution - coding silent Lung COSM435317 GLYR1 c.1357G>A p.E453K Substitution - Missense Breast COSM1663889 RERE c.1205A>G p.K402R Substitution - Missense Kidney COSM4096110 KDM3A c.114C>T p.V38V Substitution - coding silent Stomach COSM4725909 SHPRH c.2390A>G p.N797S Substitution - Missense Large_intestine COSM979608 EZH1 c.74G>A p.R25Q Substitution - Missense Endometrium COSM1642887 SHPRH c.277delT p.S93fs*5 Deletion - Frameshift Large_intestine COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4655208 KMT2D c.593C>T p.A198V Substitution - Missense Small_intestine COSM1246242 BRPF3 c.2561C>T p.P854L Substitution - Missense Oesophagus COSM1386959 CBX4 c.690_691insC p.N231fs*81 Insertion - Frameshift Large_intestine COSM3888289 GTF3C1 c.103T>C p.F35L Substitution - Missense Skin COSM1124877 TAF1 c.1610A>G p.K537R Substitution - Missense Endometrium COSM3399266 MPHOSPH8 c.1900G>A p.G634R Substitution - Missense Central_nervous_system COSM4589172 SMARCA1 c.2013T>G p.H671Q Substitution - Missense Bone COSM5719629 SMYD1 c.1242G>A p.G414G Substitution - coding silent Skin COSM5829045 NCOA3 c.3805_3813delCAGCAACAG p.Q1274_Q1276delQQQ Deletion - In frame Large_intestine COSM1365143 ACTR6 c.936delT p.F314fs*6 Deletion - Frameshift Breast COSM5944627 KMT2D c.8882_8883insG p.D2961fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5815849 CHD7 c.1541G>C p.C514S Substitution - Missense Liver COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM912515 RERE c.3574C>A p.R1192R Substitution - coding silent Kidney COSM480289 BAP1 c.509T>G p.F170C Substitution - Missense Kidney COSM1615671 NCOA5 c.1138G>A p.D380N Substitution - Missense Liver COSM479023 TCF20 c.4150G>A p.D1384N Substitution - Missense Kidney COSM3823576 KAT2B c.1704C>T p.F568F Substitution - coding silent Breast COSM3508931 SRCAP c.9068C>T p.P3023L Substitution - Missense Skin COSM589600 PHF15 c.1438A>G p.R480G Substitution - Missense Urinary_tract COSM5381974 MTA1 c.311G>A p.R104Q Substitution - Missense Skin COSM3805350 KDM4A c.3035A>G p.K1012R Substitution - Missense Breast COSM4525232 PRDM13 c.1318G>A p.D440N Substitution - Missense Skin COSM315517 SP100 c.36G>A p.R12R Substitution - coding silent Soft_tissue COSM4399722 DOT1L c.3913G>A p.G1305R Substitution - Missense Skin COSM448655 KDM3B c.5257G>A p.A1753T Substitution - Missense Breast COSM241864 TDRD7 c.2863C>T p.R955C Substitution - Missense Prostate COSM276245 MYST3 c.1990G>A p.D664N Substitution - Missense Large_intestine COSM248397 YY1 c.127_129delGAG p.E43delE Deletion - In frame Large_intestine COSM993 SMARCB1 c.601C>T p.R201* Substitution - Nonsense Central_nervous_system COSM5979002 C5orf35 c.868_869insT p.S292fs*>9 Insertion - Frameshift Upper_aerodigestive_tract COSM5058122 MBD5 c.3778C>A p.L1260I Substitution - Missense Stomach COSM219973 CHD1 c.3238-1G>C p.? Unknown Prostate COSM317902 PRDM9 c.697G>T p.G233W Substitution - Missense Lung COSM452730 KMT2C c.2165G>A p.G722E Substitution - Missense Breast COSM276245 MYST3 c.1990G>A p.D664N Substitution - Missense Large_intestine COSM3982070 KMT2C c.850C>G p.R284G Substitution - Missense Oesophagus COSM1316476 SETBP1 c.4132T>G p.L1378V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4635492 KMT2C c.7746A>G p.V2582V Substitution - coding silent Large_intestine COSM4795043 JMJD1C c.5802G>A p.K1934K Substitution - coding silent Liver COSM3969590 FTO c.932C>T p.A311V Substitution - Missense Central_nervous_system COSM5720885 HDAC9 c.1162G>A p.G388R Substitution - Missense Skin COSM1204475 DPF1 c.815G>A p.R272Q Substitution - Missense Large_intestine COSM5724186 RTF1 c.632C>T p.S211L Substitution - Missense Skin COSM307747 PBRM1 c.4123G>T p.E1375* Substitution - Nonsense Kidney COSM2252223 UBR7 c.292C>T p.R98C Substitution - Missense Skin COSM4119144 PBRM1 c.3388-2A>C p.? Unknown Stomach COSM1270992 ZMYM4 c.1447A>C p.M483L Substitution - Missense Stomach COSM1109603 KDM4C c.2343G>A p.A781A Substitution - coding silent Endometrium COSM1620728 PRDM1 c.1261C>T p.P421S Substitution - Missense Liver COSM248812 SCMH1 c.1651-4C>T p.? Unknown Pancreas COSM1565849 ASXL1 c.3195G>A p.W1065* Substitution - Nonsense Large_intestine COSM937187 EP400 c.7859C>T p.S2620L Substitution - Missense Endometrium COSM4677950 DMAP1 c.193delA p.K65fs*19 Deletion - Frameshift Large_intestine COSM1138007 KIAA2026_ENST00000399933 c.5481T>C p.A1827A Substitution - coding silent Kidney COSM3841215 NCOA3 c.2709T>G p.G903G Substitution - coding silent Breast COSM4383833 TET2 c.2153delT p.L719fs*32 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5929691 SRCAP c.3118C>T p.P1040S Substitution - Missense Skin COSM2828892 SETD5_ENST00000402198 c.4178G>A p.S1393N Substitution - Missense Upper_aerodigestive_tract COSM552603 PRMT5 c.15G>T p.A5A Substitution - coding silent Lung COSM146934 ERCC6 c.2751C>T p.G917G Substitution - coding silent Soft_tissue COSM4604696 PRDM9 c.2081G>T p.C694F Substitution - Missense Upper_aerodigestive_tract COSM3753948 BAZ1A c.1335A>G p.Q445Q Substitution - coding silent Large_intestine COSM4167259 TET2 c.? p.K1171N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4570917 TDRD1 c.3482T>A p.L1161H Substitution - Missense Skin COSM907705 ARID1A c.2999_3000insT p.S1001fs*6 Insertion - Frameshift Endometrium COSM4652882 AKAP1 c.859G>A p.A287T Substitution - Missense Large_intestine COSM5976621 ATAD2 c.2057T>A p.M686K Substitution - Missense Upper_aerodigestive_tract COSM5878988 TET2 c.2725C>T p.Q909* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4728467 SMEK2 c.2005+1G>C p.? Unknown Large_intestine COSM1258845 NCOA7 c.2046C>T p.Y682Y Substitution - coding silent Oesophagus COSM4791908 ZMYM3 c.2261A>C p.Q754P Substitution - Missense Liver COSM2149056 JHDM1D c.938G>A p.R313H Substitution - Missense Central_nervous_system COSM3746940 PHC2 c.760C>T p.P254S Substitution - Missense Liver COSM356149 MECOM c.1795A>C p.K599Q Substitution - Missense Lung COSM1425730 SETD5_ENST00000402198 c.568-1G>T p.? Unknown Large_intestine COSM3874517 TDRD6 c.1298G>A p.R433H Substitution - Missense Stomach COSM478552 SETD4 c.419C>T p.P140L Substitution - Missense Kidney COSM42039 TET2 c.3866G>T p.C1289F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4385689 ASXL1 c.1633_1634insC p.R545fs*6 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5483622 MTA2 c.692T>C p.L231P Substitution - Missense Large_intestine COSM1169692 TET2 c.? p.R1214Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1667388 ZMYM1 c.2599C>T p.R867* Substitution - Nonsense Large_intestine COSM5732506 PHF10 c.526G>T p.E176* Substitution - Nonsense Pancreas COSM3754330 TP53BP1 c.3406A>C p.K1136Q Substitution - Missense Large_intestine COSM6002295 GTF3C1 c.5640G>A p.M1880I Substitution - Missense Prostate COSM3880292 STK31 c.33C>G p.S11S Substitution - coding silent Stomach COSM961415 RTF1 c.712C>T p.R238* Substitution - Nonsense Endometrium COSM2812088 SETBP1 c.2601C>T p.S867S Substitution - coding silent Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1225798 SIRT4 c.694G>A p.V232I Substitution - Missense Large_intestine COSM5833465 BAHCC1 c.1602delC p.P536fs*15 Deletion - Frameshift Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4766076 DNMT3A c.1015-1G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5574666 HDAC10 c.1015G>C p.A339P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4586614 EHMT2 c.1455C>T p.R485R Substitution - coding silent Bone COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3392504 PBRM1 c.403A>G p.K135E Substitution - Missense Pancreas COSM375438 NCOA5 c.1022C>T p.A341V Substitution - Missense Lung COSM921439 BTAF1 c.4310_4311insG p.N1438fs*11 Insertion - Frameshift Endometrium COSM1169672 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM3723035 PHF2 c.2955T>C p.S985S Substitution - coding silent Thyroid COSM211645 TET2 c.?_?del? p.Y1608fs*47 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1723480 BRD3 c.1154C>T p.S385L Substitution - Missense Skin COSM4501631 RAI1 c.594C>T p.A198A Substitution - coding silent Skin COSM373251 EYA4 c.1175C>A p.A392E Substitution - Missense Lung COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM1287367 PRDM2 c.980C>A p.S327* Substitution - Nonsense Autonomic_ganglia COSM189262 ZMYND8 c.2564C>T p.T855M Substitution - Missense Stomach COSM4146787 SETD8 c.995T>C p.L332P Substitution - Missense Large_intestine COSM4956210 PHF15 c.1756C>T p.R586* Substitution - Nonsense Liver COSM251399 ARID1A c.2632C>T p.Q878* Substitution - Nonsense Urinary_tract COSM3721996 GTF3C1 c.2080C>A p.P694T Substitution - Missense Upper_aerodigestive_tract COSM6001022 ZMYM2 c.3538C>T p.R1180* Substitution - Nonsense Prostate COSM1221903 PRDM9 c.664C>T p.P222S Substitution - Missense Large_intestine COSM5009237 EP400 c.6934G>A p.A2312T Substitution - Missense Large_intestine COSM375390 EP400 c.5923G>A p.G1975R Substitution - Missense Lung COSM3545559 NCOA6 c.3593C>T p.P1198L Substitution - Missense Skin COSM1663344 PBRM1 c.842A>T p.Y281F Substitution - Missense Kidney COSM3514785 RAI1 c.5301C>T p.G1767G Substitution - coding silent Skin COSM5054604 CHD2 c.3941C>T p.A1314V Substitution - Missense Stomach COSM971437 CHD9 c.8092G>A p.G2698S Substitution - Missense Endometrium COSM5985259 JHDM1D c.856G>A p.G286S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM132968 ASXL1 c.? p.E635fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM133001 ARID1A c.5548_5548delG p.D1850fs*33 Deletion - Frameshift Large_intestine COSM4092260 SP140_ENST00000392045 c.1614C>T p.N538N Substitution - coding silent Prostate COSM3887207 PYGO1 c.331C>T p.P111S Substitution - Missense Skin COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM30414 KDM3B c.1378G>A p.E460K Substitution - Missense Lung COSM23306 HDAC9 c.1594A>C p.S532R Substitution - Missense Lung COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM29495 SMARCB1 c.1145delC p.P383fs*4 Deletion - Frameshift Central_nervous_system COSM49152 EZH2 c.703_703G>AA p.G235fs*11 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM87164 TET2 c.4167_4168insGA p.N1390fs*59 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM159771 CBX1 c.318+10G>C p.? Unknown Breast COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Central_nervous_system COSM213881 RSF1 c.3695G>A p.R1232H Substitution - Missense Biliary_tract COSM222862 ZBTB38 c.2318G>A p.S773N Substitution - Missense Skin COSM247771 TDRD1 c.3256C>A p.L1086I Substitution - Missense Prostate COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Bone COSM267171 PHF19 c.69G>A p.K23K Substitution - coding silent Large_intestine COSM255075 KDM6A c.2104_2105insA p.H702fs*28 Insertion - Frameshift Urinary_tract COSM276884 PRDM1 c.119C>T p.S40L Substitution - Missense Large_intestine COSM297068 PHF2 c.2961C>A p.T987T Substitution - coding silent Kidney COSM297068 PHF2 c.2961C>A p.T987T Substitution - coding silent Thyroid COSM297923 ZMYM6 c.1100C>T p.A367V Substitution - Missense Kidney COSM296008 KDM4B c.705C>T p.C235C Substitution - coding silent Large_intestine COSM293686 SP140_ENST00000392045 c.2008delA p.K672fs*4 Deletion - Frameshift Large_intestine COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Large_intestine COSM307108 RAI1 c.2760C>G p.L920L Substitution - coding silent Central_nervous_system COSM330655 MSH6 c.3254delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM355510 KDM6A c.2889G>C p.P963P Substitution - coding silent Lung COSM400110 SMARCA2 c.2110G>A p.V704M Substitution - Missense Lung COSM426826 BRDT c.1193G>A p.G398D Substitution - Missense Breast COSM427094 TDRD1 c.2777C>G p.S926C Substitution - Missense Breast COSM433832 MGA c.2789C>G p.S930C Substitution - Missense Breast COSM979863 HDAC5 c.2129G>A p.R710Q Substitution - Missense Large_intestine COSM987398 AP001011.3_ENST00000320876 c.2472G>T p.E824D Substitution - Missense Endometrium COSM983295 BPTF c.2033A>C p.K678T Substitution - Missense Endometrium COSM483732 HDGFL1 c.61G>T p.G21C Substitution - Missense Kidney COSM484285 PHF3 c.4187A>G p.N1396S Substitution - Missense Kidney COSM1000724 EZH2 c.949_950delGA p.E317fs*29 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1047223 SFMBT1 c.1364G>A p.R455Q Substitution - Missense Breast COSM941735 BAZ2A_ENST00000379441 c.4287G>A p.Q1429Q Substitution - coding silent Endometrium COSM700915 PYGO1 c.1182C>A p.T394T Substitution - coding silent Lung COSM895918 TDRKH c.173G>A p.R58Q Substitution - Missense Endometrium COSM1629538 MGA c.1277A>G p.Q426R Substitution - Missense Liver COSM1012899 ASXL1 c.2113G>T p.E705* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1078485 BRPF3 c.1242G>T p.K414N Substitution - Missense Endometrium COSM1123036 SMC1A c.1548C>T p.Y516Y Substitution - coding silent Endometrium COSM1125836 BRWD3 c.3319G>T p.E1107* Substitution - Nonsense Endometrium COSM1080965 PHF3 c.4785A>G p.R1595R Substitution - coding silent Endometrium COSM1230392 TRIM66 c.3359C>T p.A1120V Substitution - Missense Large_intestine COSM1166773 PRDM2 c.849_850delTG p.D283fs*2 Deletion - Frameshift Large_intestine COSM1197404 ASH1L c.8134G>T p.A2712S Substitution - Missense Lung COSM1583146 DNMT3A c.2504C>T p.T835M Substitution - Missense Kidney COSM1211750 KDM4D c.386G>A p.R129H Substitution - Missense Large_intestine COSM1406106 SP140 c.412T>G p.L138V Substitution - Missense Large_intestine COSM1406114 SP140_ENST00000392045 c.2007_2008insA p.R673fs*9 Insertion - Frameshift Large_intestine COSM1363776 CHD4 c.417G>T p.E139D Substitution - Missense Soft_tissue COSM1583107 DNMT3A c.2317C>A p.L773I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1469596 BRWD3 c.1980G>T p.L660L Substitution - coding silent Large_intestine COSM1583137 DNMT3A c.1527_1528insT p.V510fs*36 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1629739 IDH2 c.153G>T p.V51V Substitution - coding silent Liver COSM1626990 ARID1A c.4060delT p.F1354fs*127 Deletion - Frameshift Liver COSM1680364 CXXC1 c.1565G>A p.R522H Substitution - Missense Large_intestine COSM1644360 ACTB c.1033A>G p.I345V Substitution - Missense Salivary_gland COSM1672249 JARID2 c.1577C>G p.S526C Substitution - Missense Large_intestine COSM1681632 NCOA6 c.4772C>T p.P1591L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1697958 L3MBTL3 c.272C>T p.P91L Substitution - Missense Skin COSM1711243 SETBP1 c.3985T>C p.S1329P Substitution - Missense Skin COSM1665666 PBRM1 c.3054_3056delTAA p.F1018_K1019>L Complex - deletion inframe Kidney COSM1744141 POGZ c.2043C>T p.G681G Substitution - coding silent Biliary_tract COSM1732443 NIPBL c.4677A>T p.R1559S Substitution - Missense Bone COSM2064408 TDG c.30C>T p.S10S Substitution - coding silent Skin COSM2105648 KMT2A c.11469delA p.K3825fs*31 Deletion - Frameshift Large_intestine COSM2777774 UHRF2 c.1923C>T p.Y641Y Substitution - coding silent Large_intestine COSM2889296 ASXL1 c.3151C>T p.R1051C Substitution - Missense Large_intestine COSM3097118 ATRX c.2265T>G p.N755K Substitution - Missense Autonomic_ganglia COSM3075977 BRPF3 c.1935C>T p.S645S Substitution - coding silent Upper_aerodigestive_tract COSM3255761 PHF14 c.1296C>T p.N432N Substitution - coding silent Large_intestine COSM3304213 KMT2C c.4750G>A p.G1584R Substitution - Missense Large_intestine COSM3380607 SMARCC1 c.2845T>C p.Y949H Substitution - Missense Pancreas COSM3413974 EZH2 c.2000T>C p.M667T Substitution - Missense Oesophagus COSM3410645 SHPRH c.4640T>C p.I1547T Substitution - Missense Central_nervous_system COSM3494924 CHD8 c.4442C>T p.T1481I Substitution - Missense Skin COSM3422107 SMCHD1 c.151G>T p.E51* Substitution - Nonsense Large_intestine COSM3443947 KMT2A c.2233C>T p.R745* Substitution - Nonsense Skin COSM3590019 PHC3 c.1466C>T p.S489F Substitution - Missense Skin COSM3525867 SETBP1 c.2775C>A p.D925E Substitution - Missense Skin COSM3697621 JARID2 c.1665C>T p.D555D Substitution - coding silent Large_intestine COSM3735043 TET2 c.3409+1G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3711336 ZMYM4 c.1178C>A p.S393* Substitution - Nonsense Upper_aerodigestive_tract COSM3736917 NIPBL c.2021A>G p.N674S Substitution - Missense Soft_tissue COSM3779872 EHMT1 c.1441G>C p.D481H Substitution - Missense Urinary_tract COSM3805346 KDM4A c.1284G>A p.T428T Substitution - coding silent Breast COSM3807735 KAT6B c.4051G>C p.E1351Q Substitution - Missense Breast COSM3929285 TRRAP c.784G>T p.V262L Substitution - Missense Central_nervous_system COSM3839173 DNMT3A c.138G>A p.R46R Substitution - coding silent Breast COSM3948047 EYA4 c.1167G>A p.G389G Substitution - coding silent Lung COSM3954840 KMT2D c.8053C>G p.P2685A Substitution - Missense Lung COSM4107991 HCFC1 c.532G>A p.V178I Substitution - Missense Stomach COSM4152463 SETD2 c.3038G>A p.C1013Y Substitution - Missense Kidney COSM4385248 EP300 c.2668A>C p.T890P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4402835 KAT2B c.2172C>T p.D724D Substitution - coding silent Skin COSM4407756 KDM4C c.348C>T p.Y116Y Substitution - coding silent Pancreas COSM4573644 ERCC6 c.1347G>A p.V449V Substitution - coding silent Bone COSM4518663 KMT2A c.72_73CC>TT p.R25W Substitution - Missense Skin COSM4672007 CHD4 c.2507G>A p.R836H Substitution - Missense Prostate COSM4705942 NCOA2 c.2475G>C p.T825T Substitution - coding silent Large_intestine COSM4732664 TCF19 c.1019G>A p.R340Q Substitution - Missense Large_intestine COSM4766094 TET2 c.3443A>G p.Y1148C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4713955 PHF17 c.148A>T p.T50S Substitution - Missense Large_intestine COSM4698227 LMNA c.1718C>T p.S573L Substitution - Missense Large_intestine COSM4647154 TRDMT1 c.1038A>G p.K346K Substitution - coding silent Large_intestine COSM4610823 CHD4 c.1097_1098insTGA p.Y365_E366insD Insertion - In frame Large_intestine COSM4652144 SIRT4 c.847G>A p.A283T Substitution - Missense Large_intestine COSM4766117 TET2 c.2557_2558insT p.A855fs*17 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4772840 SMCHD1 c.655A>T p.K219* Substitution - Nonsense Stomach COSM4788404 SUZ12 c.1018G>A p.G340R Substitution - Missense Liver COSM4884102 SETD1A c.4551G>T p.S1517S Substitution - coding silent Upper_aerodigestive_tract COSM4918936 RAI1 c.510C>T p.S170S Substitution - coding silent Liver COSM4935916 SCML2 c.835C>G p.Q279E Substitution - Missense Liver COSM4879803 BPTF c.4162A>G p.K1388E Substitution - Missense Prostate COSM4990554 ARID1A c.2380G>A p.G794R Substitution - Missense Skin COSM4977548 HCFC2 c.25T>A p.W9R Substitution - Missense Oesophagus COSM5012941 CHD2 c.2095C>T p.R699W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5054841 SRCAP c.7270A>G p.T2424A Substitution - Missense Stomach COSM5153826 MTA1 c.1344+4_1344+5insG p.? Unknown Large_intestine COSM5175404 ATRX c.3145_3146insA p.I1049fs*4 Insertion - Frameshift Large_intestine COSM5154636 CDYL2 c.1363-8C>T p.? Unknown Skin COSM5347142 ARID1A c.1390C>T p.Q464* Substitution - Nonsense Endometrium COSM5418323 ATF2 c.59G>C p.S20T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5486159 C20orf20 c.434C>T p.S145L Substitution - Missense Large_intestine COSM5633044 MTA1 c.973G>C p.E325Q Substitution - Missense Oesophagus COSM5625709 FMR1 c.1782A>G p.T594T Substitution - coding silent Oesophagus COSM5722305 TP53BP1 c.1809T>C p.G603G Substitution - coding silent Skin COSM5609104 IDH2 c.523C>T p.H175Y Substitution - Missense Skin COSM5590774 EPC2 c.1135C>T p.P379S Substitution - Missense Skin COSM5615241 FXR1 c.212C>T p.A71V Substitution - Missense Lung COSM5610618 SMARCA4 c.3705C>G p.D1235E Substitution - Missense Skin COSM5596361 BRDT c.39C>T p.N13N Substitution - coding silent Skin COSM5610833 TET2 c.2854C>T p.L952L Substitution - coding silent Skin COSM5686145 SETD2 c.1259A>T p.H420L Substitution - Missense Soft_tissue COSM5698714 PRMT6 c.349A>T p.K117* Substitution - Nonsense Soft_tissue COSM5708584 TBL1XR1 c.931G>C p.A311P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5553760 SFMBT2 c.2303A>G p.E768G Substitution - Missense Prostate COSM5560695 NCOA2 c.3644A>G p.N1215S Substitution - Missense Prostate COSM5781552 SUV420H1 c.1937T>A p.M646K Substitution - Missense Breast COSM5944377 ASXL1 c.1888_1892delCACCA p.H630fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5892682 ZMYM4 c.1588C>T p.P530S Substitution - Missense Skin COSM5920387 CHD4 c.4426G>T p.E1476* Substitution - Nonsense Skin COSM5934145 TCF20 c.4279G>A p.E1427K Substitution - Missense Skin COSM5953784 TDRD3 c.1714-3C>T p.? Unknown Upper_aerodigestive_tract COSM6002964 NCOR1 c.2981G>A p.C994Y Substitution - Missense Prostate COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716177 EZH2 c.? p.Y646H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Bone COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1685350 EZH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM307764 TET2 c.? p.M1388I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43413 TET2 c.?_?ins? p.?fs Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1666676 SETBP1 c.? p.I871T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4606780 ASH1L c.6136C>T p.Q2046* Substitution - Nonsense Adrenal_gland COSM146266 CHD2 c.2094delC p.R699fs*35 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM86082 KMT2C c.2418C>G p.S806S Substitution - coding silent Soft_tissue COSM2002823 ATF7IP c.953delA p.N320fs*7 Deletion - Frameshift Large_intestine COSM3112846 SRCAP c.1950C>T p.T650T Substitution - coding silent Skin COSM278970 ARID1A c.3667C>T p.R1223C Substitution - Missense Large_intestine COSM5725087 RAI1 c.671C>T p.S224F Substitution - Missense Skin COSM5726146 ATAD2B_ENST00000238789 c.3591G>A p.E1197E Substitution - coding silent Skin COSM3729906 MBD4 c.939delA p.E314fs*4 Deletion - Frameshift Large_intestine COSM4070397 CHD3 c.5842G>A p.A1948T Substitution - Missense Stomach COSM1008140 BAZ2B c.6300T>G p.V2100V Substitution - coding silent Endometrium COSM3487578 ARID1A c.2292C>T p.S764S Substitution - coding silent Skin COSM5424041 BRWD1 c.2072G>A p.G691D Substitution - Missense Prostate COSM5834036 PRDM15 c.3890_3891insA p.R1298fs*57 Insertion - Frameshift Breast COSM1190947 ADNP c.47delG p.T18fs*2 Deletion - Frameshift Lung COSM4924783 STK31 c.269C>T p.S90F Substitution - Missense Liver COSM3711479 CHD8 c.6248C>T p.S2083F Substitution - Missense Upper_aerodigestive_tract COSM1383978 CBX1 c.12delA p.K4fs*11 Deletion - Frameshift Large_intestine COSM4590380 KMT2C c.7443A>T p.R2481S Substitution - Missense Upper_aerodigestive_tract COSM1642603 BRD8 c.440+1G>A p.? Unknown Stomach COSM4537058 ACTL6B c.237G>A p.A79A Substitution - coding silent Skin COSM5028762 PRDM15 c.1446G>C p.W482C Substitution - Missense Breast COSM3883746 TRRAP c.6595T>C p.S2199P Substitution - Missense Stomach COSM5802332 ZMYM4 c.4369_4370insGA p.E1457fs*11 Insertion - Frameshift Breast COSM717731 HAT1 c.1053C>G p.Y351* Substitution - Nonsense Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1034544 EP300 c.3560G>A p.R1187H Substitution - Missense Endometrium COSM3539439 SUV420H2 c.369C>T p.I123I Substitution - coding silent Skin COSM5979286 ARID1B c.3742A>G p.M1248V Substitution - Missense Upper_aerodigestive_tract COSM4677376 DHX30 c.2697A>G p.L899L Substitution - coding silent Large_intestine COSM4920448 TDRD5 c.2751T>C p.A917A Substitution - coding silent Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM4448225 UHRF1 c.2022C>T p.P674P Substitution - coding silent Skin COSM1075350 ARID1B c.3865C>T p.Q1289* Substitution - Nonsense Endometrium COSM3412965 ELP3 c.48G>A p.M16I Substitution - Missense Central_nervous_system COSM349033 TP53BP1 c.3128G>T p.R1043M Substitution - Missense Lung COSM5741009 HDAC5 c.2185C>T p.R729W Substitution - Missense Small_intestine COSM753649 TAF1L c.5354C>A p.P1785H Substitution - Missense Lung COSM299130 CHD9 c.1954A>C p.K652Q Substitution - Missense Large_intestine COSM4169955 DNMT3A c.2395C>G p.P799A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3390706 KDM5C c.202C>T p.R68* Substitution - Nonsense Pancreas COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM5595296 SETBP1 c.3725G>A p.W1242* Substitution - Nonsense Skin COSM480282 BAP1 c.1881C>G p.Y627* Substitution - Nonsense Kidney COSM3424622 HCFC1 c.3633G>A p.S1211S Substitution - coding silent Large_intestine COSM3697414 PRDM13 c.603G>A p.A201A Substitution - coding silent Large_intestine COSM2210751 ASH1L c.1097G>A p.G366E Substitution - Missense Upper_aerodigestive_tract COSM4760503 TTF2 c.2125G>T p.E709* Substitution - Nonsense Stomach COSM4425802 SIRT3 c.969+7C>T p.? Unknown Oesophagus COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM452876 STK31 c.1622C>T p.S541L Substitution - Missense Breast COSM284974 SHPRH c.3478G>T p.E1160* Substitution - Nonsense Large_intestine COSM5648275 EPC2 c.1202G>A p.R401K Substitution - Missense Oesophagus COSM1625051 KDM4C c.3146A>C p.Q1049P Substitution - Missense Liver COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5786438 SETDB1 c.3594C>A p.R1198R Substitution - coding silent Breast COSM4401043 STK31 c.1401C>T p.R467R Substitution - coding silent Skin COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Endometrium COSM5894123 EP300 c.724C>T p.L242F Substitution - Missense Skin COSM479096 BRD1 c.1878G>C p.E626D Substitution - Missense Kidney COSM4816597 NCOA6 c.5773G>A p.E1925K Substitution - Missense Cervix COSM5927241 NCOA1 c.3201G>A p.Q1067Q Substitution - coding silent Skin COSM3866156 RERE c.4077C>T p.A1359A Substitution - coding silent Skin COSM290301 BRDT c.1107C>T p.F369F Substitution - coding silent Lung COSM3830718 CDYL c.1228C>T p.R410* Substitution - Nonsense Breast COSM5058812 NCOA1 c.1548C>T p.S516S Substitution - coding silent Stomach COSM1041558 ACTL6A c.769T>C p.C257R Substitution - Missense Endometrium COSM348473 GLYATL1 c.926G>T p.G309V Substitution - Missense Lung COSM166309 ARID1A c.3854_3861ATGACAGA>T p.Y1285fs*2 Deletion - Frameshift Breast COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5967296 MSH6 c.2223_2241del19 p.N741fs*13 Deletion - Frameshift Salivary_gland COSM4162000 KMT2C c.2706G>A p.S902S Substitution - coding silent Biliary_tract COSM5696753 SUV39H1 c.532G>A p.A178T Substitution - Missense Soft_tissue COSM4837620 AIRE c.1455G>T p.E485D Substitution - Missense Cervix COSM3755970 KDM6B c.4044G>A p.L1348L Substitution - coding silent Large_intestine COSM4409712 TAF1L c.1284T>C p.H428H Substitution - coding silent Oesophagus COSM5681062 SMARCA1 c.2710G>A p.E904K Substitution - Missense Soft_tissue COSM1685364 SETBP1 c.2612T>C p.I871T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1103 SMARCB1 c.?_?del? p.?del Deletion - In frame Soft_tissue COSM747179 BAZ1B c.4015C>T p.R1339W Substitution - Missense Lung COSM2002845 ATF7IP c.1983G>T p.K661N Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3717147 PRDM7 c.414G>T p.T138T Substitution - coding silent Liver COSM4725325 SFMBT2 c.1106T>C p.L369P Substitution - Missense Large_intestine COSM2854238 PBRM1 c.196A>G p.R66G Substitution - Missense Large_intestine COSM23037 MEN1 c.? p.R98* Substitution - Nonsense Parathyroid COSM94149 DUSP1 c.488C>T p.S163F Substitution - Missense Breast COSM268707 ARID2 c.521A>G p.D174G Substitution - Missense Large_intestine COSM3589903 MECOM c.380G>A p.S127N Substitution - Missense Skin COSM4448138 BAHCC1 c.6133C>T p.P2045S Substitution - Missense Skin COSM5444389 ALKBH3 c.215T>C p.I72T Substitution - Missense Oesophagus COSM4606365 PHF6 c.737C>A p.S246Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM215940 WHSC1 c.3448A>G p.T1150A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1122149 SUV39H1 c.273G>A p.K91K Substitution - coding silent Endometrium COSM1283594 ATRX c.4934T>G p.L1645* Substitution - Nonsense Autonomic_ganglia COSM937178 EP400 c.6877C>T p.R2293C Substitution - Missense Endometrium COSM1605324 TRIM66 c.940G>A p.A314T Substitution - Missense Liver COSM1362025 KMT2D c.6860C>T p.P2287L Substitution - Missense Soft_tissue COSM2732578 PHF2 c.234C>T p.D78D Substitution - coding silent Large_intestine COSM227115 TP53BP1 c.4439C>T p.S1480F Substitution - Missense Skin COSM4110090 KDM5C c.242T>C p.V81A Substitution - Missense Stomach COSM5794111 ARID2 c.3500C>T p.T1167I Substitution - Missense Breast COSM4384086 NSD1 c.5198G>A p.C1733Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5995792 NIPBL c.4797G>A p.K1599K Substitution - coding silent Prostate COSM4790413 NCOA6 c.5495G>A p.C1832Y Substitution - Missense Liver COSM5576053 WHSC1 c.3235G>A p.A1079T Substitution - Missense Stomach COSM315437 SMARCC1 c.2021C>T p.S674L Substitution - Missense Lung COSM2772288 TAF1L c.606C>T p.F202F Substitution - coding silent Skin COSM3812840 CHD4 c.3048G>C p.K1016N Substitution - Missense Breast COSM4844872 MPHOSPH8 c.2062G>C p.E688Q Substitution - Missense Cervix COSM4833910 SMARCA2 c.3583G>C p.D1195H Substitution - Missense Cervix COSM1716912 TET2 c.4678_4679insA p.Y1560fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3458526 ATF7IP c.1195G>A p.E399K Substitution - Missense Skin COSM147497 KMT2D c.2015-8C>T p.? Unknown Soft_tissue COSM3900860 CHD7 c.1746G>A p.K582K Substitution - coding silent Stomach COSM5574220 SETD1A c.1783C>T p.P595S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5987139 ZMYND11 c.663C>G p.C221W Substitution - Missense Salivary_gland COSM5009667 KMT2C c.6729C>T p.L2243L Substitution - coding silent Large_intestine COSM3560212 SCML2 c.840C>T p.V280V Substitution - coding silent Skin COSM333021 PRDM13 c.1692C>T p.S564S Substitution - coding silent Lung COSM427630 ERCC6 c.4238A>G p.Q1413R Substitution - Missense Thyroid COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM932195 RSF1 c.3263G>A p.R1088H Substitution - Missense Endometrium COSM4057844 IDH2 c.1124G>A p.W375* Substitution - Nonsense Stomach COSM255218 PHF6 c.123_124insAGGCA p.H42fs*41 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4878610 CHD8 c.2515G>A p.G839R Substitution - Missense Prostate COSM5451839 EYA4 c.1374A>C p.A458A Substitution - coding silent Large_intestine COSM1716951 ARID1B c.5181delG p.E1728fs*20 Deletion - Frameshift Ovary COSM3746263 TDG c.793-1G>T p.? Unknown Liver COSM1684566 SMARCA4 c.809_810delCC p.P270fs*16 Deletion - Frameshift Lung COSM1111304 PHF2 c.2614G>A p.D872N Substitution - Missense Endometrium COSM4385495 PHF6 c.418G>A p.A140T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1361702 ARID2 c.3806C>T p.P1269L Substitution - Missense Large_intestine COSM4101709 PRDM15 c.3317A>G p.H1106R Substitution - Missense Stomach COSM435537 CTCF c.1132C>G p.P378A Substitution - Missense Breast COSM363027 SMARCA1 c.2754A>T p.Q918H Substitution - Missense Lung COSM2177142 TRIM33 c.3258C>T p.F1086F Substitution - coding silent Stomach COSM4043658 BAZ2A c.5006+1G>A p.? Unknown Stomach COSM1106537 BRD3 c.1781G>A p.R594Q Substitution - Missense Endometrium COSM5768831 WHSC1L1 c.17C>A p.S6Y Substitution - Missense Breast COSM1457692 CHD7 c.1566C>T p.G522G Substitution - coding silent Large_intestine COSM264223 TRRAP c.5274C>A p.I1758I Substitution - coding silent Large_intestine COSM5025111 KMT2D c.14629A>G p.S4877G Substitution - Missense Breast COSM5724226 CREBBP c.2867C>T p.P956L Substitution - Missense Skin COSM4993643 PHC3 c.1447_1449delCCT p.P484delP Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM5345794 KIAA2026_ENST00000399933 c.802G>T p.E268* Substitution - Nonsense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM273289 SP110 c.1611C>T p.C537C Substitution - coding silent Large_intestine COSM720951 HDAC4 c.2042G>A p.R681K Substitution - Missense Lung COSM4725132 SETBP1 c.2969T>G p.F990C Substitution - Missense Large_intestine COSM96927 TET2 c.2095T>A p.L699M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2818092 BRWD1 c.6239C>T p.T2080I Substitution - Missense Large_intestine COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4162521 TRRAP c.1587G>A p.K529K Substitution - coding silent Thyroid COSM4099354 ADNP c.1478A>G p.Y493C Substitution - Missense Stomach COSM1632994 TBL1XR1 c.227G>C p.R76P Substitution - Missense Liver COSM5560241 SMCHD1 c.1706T>C p.M569T Substitution - Missense Prostate COSM1086203 JHDM1D c.1551T>C p.H517H Substitution - coding silent Endometrium COSM5427004 PRDM13 c.1946T>C p.V649A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4002747 PBRM1 c.3597A>T p.P1199P Substitution - coding silent Soft_tissue COSM5708568 TBL1XR1 c.1388A>T p.D463V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3380602 SETD2 c.1861G>T p.A621S Substitution - Missense Pancreas COSM51470 ARID1A c.2910_2911insG p.D972fs*35 Insertion - Frameshift Ovary COSM1684671 ATRX c.4583_4585delCCA p.T1529delT Deletion - In frame Large_intestine COSM5708596 TBL1XR1 c.793C>G p.H265D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2948439 KAT2B c.811C>T p.P271S Substitution - Missense Skin COSM3852231 HDAC3 c.317G>A p.R106H Substitution - Missense Stomach COSM5695353 INO80B c.676A>G p.I226V Substitution - Missense Soft_tissue COSM1172138 ZMYM4 c.3482G>A p.R1161Q Substitution - Missense Oesophagus COSM42084 TET2 c.1924C>T p.Q642* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5419569 PRDM9 c.2455C>G p.L819V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1621136 ARID1B c.3348A>G p.S1116S Substitution - coding silent Liver COSM5772530 NCOA2 c.2227G>A p.A743T Substitution - Missense Breast COSM4071899 ASXL3 c.1289C>A p.P430H Substitution - Missense Stomach COSM317902 PRDM9 c.697G>T p.G233W Substitution - Missense Skin COSM3902425 TDRD7 c.2683G>A p.A895T Substitution - Missense Stomach COSM1406751 HDAC4 c.1868G>A p.G623D Substitution - Missense Large_intestine COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1087564 KMT2C c.8297T>C p.M2766T Substitution - Missense Endometrium COSM1168024 TET2 c.3737C>A p.S1246* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3853988 NSD1 c.7635G>T p.K2545N Substitution - Missense Stomach COSM939553 KDM5A c.851G>A p.G284D Substitution - Missense Endometrium COSM2008693 SMARCD1 c.128G>A p.G43E Substitution - Missense Large_intestine COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM52834 PBRM1 c.941C>A p.S314* Substitution - Nonsense Kidney COSM4445428 BRD1 c.2360-6C>G p.? Unknown Skin COSM215591 ARID4A c.3037C>A p.Q1013K Substitution - Missense Central_nervous_system COSM1685937 MECOM c.692C>T p.S231F Substitution - Missense Skin COSM1100858 CHD7 c.6410C>T p.A2137V Substitution - Missense Endometrium COSM1583134 DNMT3A c.2696G>A p.R899H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24898 HNF1A c.196G>T p.E66* Substitution - Nonsense Liver COSM216993 KDM4D c.1010A>G p.K337R Substitution - Missense Liver COSM1219730 PCGF2 c.850C>A p.H284N Substitution - Missense Large_intestine COSM5607854 ARID1B c.1839C>T p.S613S Substitution - coding silent Skin COSM227275 PRDM1 c.101G>A p.G34D Substitution - Missense Skin COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Soft_tissue COSM1360187 EP400 c.8184G>A p.Q2728Q Substitution - coding silent Large_intestine COSM1756984 SMARCA4 c.3470G>A p.R1157Q Substitution - Missense Urinary_tract COSM4833856 SMARCA2 c.3940G>A p.V1314M Substitution - Missense Cervix COSM4040525 ATF7IP c.361C>T p.P121S Substitution - Missense Stomach COSM1451628 ACTB c.162G>T p.V54V Substitution - coding silent Large_intestine COSM3706537 BAHD1 c.980A>C p.E327A Substitution - Missense Liver COSM4936144 DOT1L c.4196C>G p.P1399R Substitution - Missense Liver COSM3423731 PCNA c.731T>G p.M244R Substitution - Missense Large_intestine COSM1285328 HDAC10 c.1414delG p.D472fs*4 Deletion - Frameshift Autonomic_ganglia COSM4383799 TET2 c.1267A>T p.K423* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5595406 TAF1L c.2852G>A p.W951* Substitution - Nonsense Skin COSM33237 CHD5 c.1999A>G p.R667G Substitution - Missense Breast COSM97186 ASXL1 c.(2250_2252)insC p.V751fs*23 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3906844 TAF1L c.2663G>A p.R888H Substitution - Missense Stomach COSM5710464 KMT2C c.2509C>A p.P837T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM123202 FMR1 c.387C>G p.I129M Substitution - Missense Upper_aerodigestive_tract COSM3747843 ARID1A c.5787T>G p.S1929R Substitution - Missense Central_nervous_system COSM4767659 NCOR1 c.2616G>T p.E872D Substitution - Missense Biliary_tract COSM4038332 PRDM4 c.255A>G p.L85L Substitution - coding silent Stomach COSM2153377 SRCAP c.891G>A p.E297E Substitution - coding silent Central_nervous_system COSM196962 BRWD3 c.2359C>T p.R787C Substitution - Missense Large_intestine COSM2246010 ARID4A c.1562G>T p.R521I Substitution - Missense Large_intestine COSM3596046 PHF7 c.839G>A p.G280E Substitution - Missense Skin COSM473416 JMJD6 c.711T>A p.N237K Substitution - Missense Kidney COSM3188396 KAT2A c.905C>T p.P302L Substitution - Missense Bone COSM4570301 ELP3 c.255T>G p.S85R Substitution - Missense Skin COSM4987391 KDM6B c.2254A>G p.T752A Substitution - Missense Soft_tissue COSM3913273 ZBTB33 c.1163C>T p.S388F Substitution - Missense Skin COSM5916361 MTA1 c.242-3C>T p.? Unknown Skin COSM4665032 BAG6 c.1342G>A p.V448M Substitution - Missense Large_intestine COSM314619 PWWP2B c.1128G>A p.G376G Substitution - coding silent Lung COSM2027705 MTA1 c.1906_1907insG p.S639fs*18 Insertion - Frameshift Large_intestine COSM13305 BRD2 c.273G>A p.W91* Substitution - Nonsense Central_nervous_system COSM4150366 SETD5_ENST00000402198 c.524G>A p.S175N Substitution - Missense Ovary COSM3578910 SP140_ENST00000392045 c.1969-1G>A p.? Unknown Skin COSM1078484 BRPF3 c.832G>A p.A278T Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1685371 SETBP1 c.? p.D874N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3514566 NCOR1 c.865C>T p.L289F Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5879648 ASXL1 c.1748G>A p.W583* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5384767 SETD1A c.2352C>T p.T784T Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1742336 KMT2D c.14332C>T p.R4778C Substitution - Missense Oesophagus COSM312892 KMT2C c.7807A>G p.R2603G Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2175490 HNF1A c.1539C>A p.T513T Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3960294 KDM4B c.147C>G p.I49M Substitution - Missense Lung COSM2006671 KMT2D c.14278C>T p.R4760C Substitution - Missense Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4596765 SMARCB1 c.1130G>T p.R377L Substitution - Missense Upper_aerodigestive_tract COSM3703321 TRRAP c.8008A>G p.I2670V Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3657068 KIAA1045 c.436C>T p.P146S Substitution - Missense Skin COSM471261 CHD2 c.1241T>C p.L414P Substitution - Missense Kidney COSM5457947 HDAC6 c.2783C>T p.A928V Substitution - Missense Large_intestine COSM294928 UHRF2 c.1106A>T p.Y369F Substitution - Missense Large_intestine COSM3742853 DOT1L c.1156G>A p.V386M Substitution - Missense Liver COSM4838327 PCNA c.574G>T p.E192* Substitution - Nonsense Cervix COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM3432439 MYST3 c.896G>A p.R299H Substitution - Missense Large_intestine COSM3233474 FMR1 c.1378A>G p.S460G Substitution - Missense Upper_aerodigestive_tract COSM1476850 CHD4 c.269C>A p.P90Q Substitution - Missense Breast COSM1457755 CHD7 c.8956delG p.D2988fs*3 Deletion - Frameshift Large_intestine COSM164776 TAF1 c.2062G>T p.G688* Substitution - Nonsense Breast COSM1034524 EP300 c.1778C>A p.P593H Substitution - Missense Endometrium COSM30570 SMARCA4 c.2184_2206del23 p.Q729fs*4 Deletion - Frameshift Lung COSM4470505 PRDM15 c.1664C>T p.P555L Substitution - Missense Skin COSM5421036 SMARCA1 c.1997_1998insA p.Q667fs*14 Insertion - Frameshift Prostate COSM1716610 ATRX c.613delA p.M205fs*1 Deletion - Frameshift Central_nervous_system COSM304647 RTF1 c.496A>T p.K166* Substitution - Nonsense Large_intestine COSM146125 ZMYM3 c.2542G>A p.V848M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144605 KMT2D c.631C>T p.Q211* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM256614 CHD2 c.4229A>C p.D1410A Substitution - Missense Large_intestine COSM5817966 LBR c.396T>C p.Y132Y Substitution - coding silent Liver COSM4424566 EZH2 c.522G>T p.L174F Substitution - Missense Oesophagus COSM3597975 SETD5_ENST00000402198 c.2875C>T p.P959S Substitution - Missense Skin COSM2813388 CARM1 c.1813C>T p.H605Y Substitution - Missense Prostate COSM5815273 AICDA c.412A>T p.I138F Substitution - Missense Liver COSM250047 ATRX c.3904_3905insA p.R1302fs*7 Insertion - Frameshift Central_nervous_system COSM29384 SMARCB1 c.356_360delACCTC p.Y119fs*1 Deletion - Frameshift Soft_tissue COSM4590631 GLYR1 c.1377C>G p.H459Q Substitution - Missense Upper_aerodigestive_tract COSM255312 SMARCA4 c.3727C>T p.R1243W Substitution - Missense Pancreas COSM3709467 SP100 c.1367C>G p.S456* Substitution - Nonsense Liver COSM4082474 TRIM28 c.670T>C p.C224R Substitution - Missense Stomach COSM30429 KMT2D c.13405C>T p.P4469S Substitution - Missense Skin COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41717 ASXL1 c.2302C>T p.Q768* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM46435 HNF1A c.1441C>T p.Q481* Substitution - Nonsense Liver COSM80969 CBX7 c.615C>A p.A205A Substitution - coding silent Ovary COSM87134 TET2 c.3812_3813insG p.C1271fs*29 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM88746 CREBBP c.5035_5037delTCC p.S1680delS Deletion - In frame Lung COSM110748 TET2 c.3813_3813delC p.C1271fs*92 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM110777 TET2 c.2003_2003delT p.L668fs*32 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM112121 PRDM2 c.2104_2105insCTC p.P703_A704insP Insertion - In frame Upper_aerodigestive_tract COSM137781 TTF2 c.895C>T p.P299S Substitution - Missense Skin COSM136112 HDAC1 c.1108C>T p.L370F Substitution - Missense Skin COSM211719 TET2 c.3764_3765insA p.Y1255fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM211772 ARID1A c.2368C>T p.Q790* Substitution - Nonsense Large_intestine COSM234084 RERE c.3618+10G>A p.? Unknown Skin COSM249538 BAP1 c.299_315del17 p.L100fs*20 Deletion - Frameshift Kidney COSM245711 KMT2C c.10951G>T p.E3651* Substitution - Nonsense Prostate COSM254974 TDRD1 c.2792G>A p.W931* Substitution - Nonsense Urinary_tract COSM268533 ZMYM6 c.1364G>A p.G455D Substitution - Missense Large_intestine COSM255130 MEN1 c.550_550delG p.V184fs*1 Deletion - Frameshift Parathyroid COSM256045 DNMT3A c.1990G>A p.E664K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM275434 HDAC9 c.1988G>A p.R663Q Substitution - Missense Skin COSM314850 RNF2 c.136C>G p.H46D Substitution - Missense Lung COSM309270 ARID4A c.2551A>G p.K851E Substitution - Missense Lung COSM323279 SFMBT2 c.722G>A p.R241Q Substitution - Missense Lung COSM341803 TRIM28 c.1216+2T>A p.? Unknown Lung COSM350020 SMYD3 c.466G>T p.V156L Substitution - Missense Lung COSM367573 SMC1A c.232G>A p.A78T Substitution - Missense Lung COSM400525 PHF12 c.921C>T p.A307A Substitution - coding silent Lung COSM395888 DIDO1 c.5872G>T p.G1958C Substitution - Missense Lung COSM396785 KMT2C c.2674G>A p.G892R Substitution - Missense Lung COSM455832 TAF1L c.760C>T p.R254* Substitution - Nonsense Skin COSM469004 AICDA c.221G>A p.R74H Substitution - Missense Large_intestine COSM487367 TAF1L c.5467G>T p.G1823W Substitution - Missense Kidney COSM485014 EZH2 c.182A>G p.K61R Substitution - Missense Kidney COSM693698 KMT2D c.9268C>T p.Q3090* Substitution - Nonsense Oesophagus COSM919509 JMJD1C c.787G>A p.E263K Substitution - Missense Endometrium COSM745873 KMT2C c.6244A>G p.I2082V Substitution - Missense Lung COSM756946 KDM5C c.202C>A p.R68R Substitution - coding silent Lung COSM717733 HAT1 c.535C>T p.Q179* Substitution - Nonsense Lung COSM696922 RNF17 c.532C>A p.Q178K Substitution - Missense Lung COSM708661 BAHCC1 c.7625C>T p.A2542V Substitution - Missense Lung COSM1067661 NIPBL c.2022T>C p.N674N Substitution - coding silent Endometrium COSM961347 INOC1 c.3550A>G p.N1184D Substitution - Missense Endometrium COSM961981 TP53BP1 c.1746T>C p.N582N Substitution - coding silent Endometrium COSM1055643 GABRG1 c.756G>A p.T252T Substitution - coding silent Endometrium COSM1125422 ATRX c.5216G>A p.R1739Q Substitution - Missense Endometrium COSM1085205 SND1 c.2391C>A p.A797A Substitution - coding silent Endometrium COSM1163731 ADNP c.3047delA p.K1016fs*11 Deletion - Frameshift Large_intestine COSM1266270 SMEK1 c.789G>C p.Q263H Substitution - Missense Oesophagus COSM1236043 GTF3C1 c.466G>A p.A156T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1211786 KDM5C c.1810G>A p.G604S Substitution - Missense Kidney COSM1211786 KDM5C c.1810G>A p.G604S Substitution - Missense Large_intestine COSM1211254 JARID2 c.497C>A p.S166Y Substitution - Missense Large_intestine COSM1315857 EZH2 c.2232_2233insATC p.I744_E745insI Insertion - In frame Haematopoietic_and_lymphoid_tissue COSM1605867 ATF7IP c.3336C>A p.T1112T Substitution - coding silent Liver COSM1375556 CHD2 c.4969T>C p.W1657R Substitution - Missense Stomach COSM1425796 BRPF1 c.3572G>A p.R1191H Substitution - Missense Large_intestine COSM1404899 IDH1 c.974C>T p.T325M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1426604 PRDM5 c.479G>A p.R160H Substitution - Missense Large_intestine COSM1420535 PHC3 c.1817G>A p.G606E Substitution - Missense Large_intestine COSM1363057 SMARCC2 c.1424T>C p.L475P Substitution - Missense Large_intestine COSM1611470 DNMT1 c.4273A>G p.M1425V Substitution - Missense Liver COSM1623359 TRRAP c.7040G>T p.R2347L Substitution - Missense Liver COSM1637808 PHF19 c.246C>G p.V82V Substitution - coding silent Bone COSM1673697 KMT2C c.12955G>A p.E4319K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1679094 FTO c.181C>T p.L61F Substitution - Missense Central_nervous_system COSM1673517 SND1 c.182G>A p.R61H Substitution - Missense Large_intestine COSM1708714 GLYR1 c.557C>T p.S186F Substitution - Missense Skin COSM1716700 ATRX c.4510C>T p.R1504* Substitution - Nonsense Central_nervous_system COSM1745838 JMJD1C c.4027G>A p.D1343N Substitution - Missense Urinary_tract COSM1750376 CBX2 c.1567A>T p.S523C Substitution - Missense Urinary_tract COSM2065407 KDM5A c.4710G>A p.K1570K Substitution - coding silent Large_intestine COSM2175810 KDM2B c.2381T>C p.V794A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2270762 MGA c.827G>T p.S276I Substitution - Missense Large_intestine COSM2828798 SETD5_ENST00000402198 c.1853G>A p.R618Q Substitution - Missense Large_intestine COSM3142385 PRDM13 c.595T>C p.F199L Substitution - Missense Large_intestine COSM3206335 FXR1 c.1298G>A p.R433Q Substitution - Missense Large_intestine COSM3359735 ARID2 c.963T>C p.H321H Substitution - coding silent Kidney COSM3382654 PCGF6 c.478G>A p.V160I Substitution - Missense Pancreas COSM3408705 SETD2 c.4856G>A p.R1619Q Substitution - Missense Central_nervous_system COSM3495809 BAZ1A c.1231C>T p.P411S Substitution - Missense Skin COSM3492907 RERE c.1905G>A p.K635K Substitution - coding silent Skin COSM3418048 TDRKH c.975C>T p.I325I Substitution - coding silent Breast COSM3433182 KIAA2026_ENST00000399933 c.2398C>T p.R800W Substitution - Missense Large_intestine COSM3473718 TDRKH c.907C>T p.H303Y Substitution - Missense Skin COSM3474979 ASH1L c.1713C>T p.P571P Substitution - coding silent Skin COSM3625711 DAXX c.838C>T p.P280S Substitution - Missense Skin COSM3627959 TDRD6 c.3797C>T p.P1266L Substitution - Missense Skin COSM3551339 AIRE c.985G>A p.E329K Substitution - Missense Skin COSM3517753 EZH1 c.831C>T p.I277I Substitution - coding silent Skin COSM3531068 GATAD2A c.1211C>T p.P404L Substitution - Missense Large_intestine COSM3518948 MYST2 c.867C>T p.T289T Substitution - coding silent Skin COSM3692781 SIRT6 c.937G>T p.A313S Substitution - Missense Large_intestine COSM3702194 CAMKMT c.958A>G p.T320A Substitution - Missense Liver COSM3732864 SP100 c.2617A>G p.N873D Substitution - Missense Stomach COSM3739966 KDM3A c.3500A>C p.K1167T Substitution - Missense Liver COSM3753058 EP400 c.7137C>T p.Y2379Y Substitution - coding silent Large_intestine COSM3821362 ASXL3 c.967G>C p.E323Q Substitution - Missense Breast COSM3848237 SMARCA2 c.553C>T p.Q185* Substitution - Nonsense Breast COSM3871681 HDAC7 c.2228C>T p.A743V Substitution - Missense Skin COSM3901341 NCOA2 c.2236C>T p.R746C Substitution - Missense Stomach COSM3977548 ARID1A c.5219G>T p.G1740V Substitution - Missense Lung COSM4021556 PRDM2 c.3995C>T p.A1332V Substitution - Missense Stomach COSM4006289 ATAT1 c.169-6C>T p.? Unknown Urinary_tract COSM4007353 ZMYM4 c.3296T>C p.V1099A Substitution - Missense Stomach COSM3993218 BAP1 c.580G>A p.G194R Substitution - Missense Kidney COSM3989520 SMCHD1 c.643C>T p.Q215* Substitution - Nonsense Kidney COSM4097551 ASXL1 c.1803G>A p.T601T Substitution - coding silent Stomach COSM4115104 MECOM c.1414G>C p.D472H Substitution - Missense Stomach COSM4060197 SRCAP c.3503G>A p.R1168H Substitution - Missense Stomach COSM4144781 JMJD1C c.5712A>T p.E1904D Substitution - Missense Thyroid COSM4384868 CREBBP c.5234G>A p.W1745* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4405250 EYA1 c.1307T>C p.F436S Substitution - Missense Skin COSM4604033 KMT2D c.9935G>A p.R3312Q Substitution - Missense Oesophagus COSM4415236 DNMT1 c.931A>G p.I311V Substitution - Missense Oesophagus COSM4568192 KAT5 c.1020T>C p.R340R Substitution - coding silent Skin COSM4494090 BRD1 c.426C>T p.F142F Substitution - coding silent Skin COSM4663695 ASH1L c.8450A>G p.K2817R Substitution - Missense Large_intestine COSM4717491 PRDM16 c.2699C>T p.A900V Substitution - Missense Large_intestine COSM4695018 KDM5C c.2178C>T p.D726D Substitution - coding silent Large_intestine COSM4767451 KMT2C c.2769+5G>T p.? Unknown Biliary_tract COSM4616417 TRIM33 c.1837A>G p.M613V Substitution - Missense Large_intestine COSM4622919 PRMT5 c.1338G>A p.S446S Substitution - coding silent Large_intestine COSM4770477 ZMYM6 c.3256C>T p.R1086* Substitution - Nonsense Adrenal_gland COSM4611655 HDAC2 c.33delA p.V12fs*20 Deletion - Frameshift Large_intestine COSM4763650 NSD1 c.6886G>C p.V2296L Substitution - Missense Stomach COSM4612157 PBRM1 c.4472delC p.P1491fs*14 Deletion - Frameshift Large_intestine COSM4778073 SETBP1 c.1673C>A p.P558H Substitution - Missense Prostate COSM4926770 TRRAP c.6771C>A p.L2257L Substitution - coding silent Liver COSM4941769 PHC2 c.959A>G p.H320R Substitution - Missense Liver COSM4829447 JMJD1C c.5205+1G>C p.? Unknown Cervix COSM5031047 KDM6A c.3701G>A p.C1234Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5018280 SCMH1 c.1410delC p.N471fs*46 Deletion - Frameshift Soft_tissue COSM5013063 SMYD4 c.1090C>A p.R364S Substitution - Missense Kidney COSM5023180 AKAP1 c.931G>A p.D311N Substitution - Missense Bone COSM5009570 TAF1L c.857G>A p.R286H Substitution - Missense Stomach COSM5075570 SETD2 c.3305A>G p.Y1102C Substitution - Missense Breast COSM5037288 CDYL2 c.1506A>C p.K502N Substitution - Missense Oesophagus COSM5346964 ARID1A c.4549_4550insC p.Q1519fs*13 Insertion - Frameshift Endometrium COSM5372422 RAG2 c.1511C>T p.S504F Substitution - Missense Skin COSM5368920 CHD9 c.1130A>T p.H377L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5385753 NCOR1 c.2697T>G p.F899L Substitution - Missense Skin COSM5384613 GTF3C1 c.1752C>T p.V584V Substitution - coding silent Skin COSM5485076 TAF1L c.1500G>T p.E500D Substitution - Missense Large_intestine COSM5485235 CHD9 c.4651G>A p.G1551S Substitution - Missense Large_intestine COSM5432726 PRDM10 c.3201G>A p.Q1067Q Substitution - coding silent Oesophagus COSM5440487 SETD1A c.4230A>C p.P1410P Substitution - coding silent Oesophagus COSM5436962 DIDO1 c.1625C>A p.A542E Substitution - Missense Oesophagus COSM5453043 KMT2C c.6311C>T p.A2104V Substitution - Missense Large_intestine COSM5419956 YY1 c.176_177insCGG p.G64_H65insG Insertion - In frame Pancreas COSM5575837 EZH2 c.596A>C p.K199T Substitution - Missense Stomach COSM5585564 KDM3B c.4330G>A p.D1444N Substitution - Missense Skin COSM5672127 NCOR1 c.1257C>A p.N419K Substitution - Missense Soft_tissue COSM5563126 EYA1 c.27G>A p.P9P Substitution - coding silent Prostate COSM5567466 CHD3 c.4586C>G p.S1529C Substitution - Missense Prostate COSM5773154 ATAD2 c.2286A>G p.G762G Substitution - coding silent Breast COSM5802307 ARID1A c.3163_3164insT p.Y1055fs*50 Insertion - Frameshift Breast COSM5883416 ATAD2B_ENST00000238789 c.3473A>T p.K1158I Substitution - Missense Large_intestine COSM5944485 DNMT3A c.999_1000insCGGACCT p.G334fs*11 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5945621 PHF6 c.834+2T>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5894868 JHDM1D c.725C>T p.P242L Substitution - Missense Skin COSM5943039 KMT2C c.2818_2819insT p.M940fs*10 Insertion - Frameshift Skin COSM5918521 SMARCA5 c.621+5G>T p.? Unknown Skin COSM5917003 BRDT c.112G>A p.V38I Substitution - Missense Skin COSM5956806 BAHCC1 c.2243C>T p.A748V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5982786 KDM6A c.3565C>T p.L1189L Substitution - coding silent Upper_aerodigestive_tract COSM6000164 PRDM10 c.1255G>A p.E419K Substitution - Missense Prostate COSM5975875 ARID1B c.3606C>T p.H1202H Substitution - coding silent Upper_aerodigestive_tract COSM52005 TET2 c.? p.C1271W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM1018636 HDAC4 c.851C>T p.P284L Substitution - Missense Skin COSM4403229 MBD5 c.433C>T p.P145S Substitution - Missense Skin COSM455881 KIAA1045 c.138C>G p.G46G Substitution - coding silent Breast COSM4123657 ING2 c.778G>T p.G260* Substitution - Nonsense Stomach COSM5007843 ZMYM4 c.1548G>T p.S516S Substitution - coding silent Large_intestine COSM4636497 PHIP c.1833T>C p.N611N Substitution - coding silent Large_intestine COSM253005 HNF1A c.1131delC p.P379fs*5 Deletion - Frameshift Large_intestine COSM1292530 ACTB c.164G>C p.G55A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3563683 BRWD3 c.2418T>A p.N806K Substitution - Missense Skin COSM4168281 PHF6 c.968+1_968+2delGT p.? Unknown Haematopoietic_and_lymphoid_tissue COSM344582 BPTF c.6199C>T p.P2067S Substitution - Missense Lung COSM3474950 ASH1L c.8269T>C p.L2757L Substitution - coding silent Skin COSM1615120 PCGF1 c.705T>C p.P235P Substitution - coding silent Liver COSM451304 DAXX c.1215T>C p.S405S Substitution - coding silent Breast COSM687269 PRDM10 c.2257G>A p.E753K Substitution - Missense Lung COSM1386953 CBX8 c.215G>A p.R72H Substitution - Missense Large_intestine COSM269404 JARID2 c.2020C>T p.L674F Substitution - Missense Large_intestine COSM4603373 EP400 c.8156_8157insGCA p.Q2748_T2749insQ Insertion - In frame Haematopoietic_and_lymphoid_tissue COSM84488 SMARCA4 c.3229C>T p.R1077* Substitution - Nonsense Pancreas COSM1716870 SETBP1 c.2602G>T p.D868Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM238984 BRDT c.1036A>C p.M346L Substitution - Missense Prostate COSM1577233 MEN1 c.936C>G p.Y312* Substitution - Nonsense Lung COSM211625 TET2 c.4457C>G p.S1486* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5662242 CHD6 c.7426delA p.M2476fs*4 Deletion - Frameshift Soft_tissue COSM211643 TET2 c.3782G>A p.R1261H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4126226 PRDM8 c.343C>T p.R115C Substitution - Missense Stomach COSM376258 SETD1A c.280A>G p.K94E Substitution - Missense Lung COSM6001464 MTA1 c.1193-5C>T p.? Unknown Prostate COSM4654544 RBBP7 c.625G>T p.G209* Substitution - Nonsense Large_intestine COSM3975181 BRD8 c.1198A>G p.M400V Substitution - Missense Central_nervous_system COSM3955999 BAZ1A c.572A>G p.K191R Substitution - Missense Lung COSM4155426 TRIM24 c.1844T>A p.V615E Substitution - Missense Kidney COSM1049103 MINA c.379G>T p.D127Y Substitution - Missense Endometrium COSM51993 BAP1 c.106C>T p.Q36* Substitution - Nonsense Eye COSM5879658 ASXL1 c.1934_1935insT p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1732148 KDM5C c.1864T>C p.W622R Substitution - Missense Kidney COSM3821834 DNMT1 c.2353G>A p.D785N Substitution - Missense Breast COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4754823 ADNP c.2071G>T p.G691* Substitution - Nonsense Stomach COSM2965409 KDM6A c.2553A>G p.L851L Substitution - coding silent Upper_aerodigestive_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM4877797 KMT2D c.15468C>G p.Y5156* Substitution - Nonsense Prostate COSM4708353 NSD1 c.5918G>A p.G1973D Substitution - Missense Large_intestine COSM5980245 CHD4 c.3497A>G p.N1166S Substitution - Missense Upper_aerodigestive_tract COSM3733523 NCOR1 c.14G>T p.G5V Substitution - Missense Upper_aerodigestive_tract COSM3755969 KDM6B c.2172G>A p.P724P Substitution - coding silent Breast COSM5823554 NIPBL c.640G>A p.G214S Substitution - Missense Liver COSM1614495 SP140_ENST00000392045 c.1919G>A p.W640* Substitution - Nonsense Liver COSM26961 ZBTB33 c.598G>A p.E200K Substitution - Missense Skin COSM990763 SMARCA4 c.4315A>C p.K1439Q Substitution - Missense Endometrium COSM3947398 PRDM9 c.1803A>T p.T601T Substitution - coding silent Lung COSM4934816 HDAC8 c.221C>G p.A74G Substitution - Missense Liver COSM5112788 WHSC1 c.2323C>T p.P775S Substitution - Missense Skin COSM480298 BAP1 c.1A>G p.M1V Substitution - Missense Kidney COSM5789312 EP300 c.4228A>T p.R1410W Substitution - Missense Breast COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM4504299 MGA c.661C>G p.P221A Substitution - Missense Skin COSM3756294 SMARCA4 c.4584C>T p.D1528D Substitution - coding silent Soft_tissue COSM5494220 EP300 c.5931_5932insT p.G1978fs*95 Insertion - Frameshift Biliary_tract COSM4110884 TAF1 c.1516G>A p.D506N Substitution - Missense Stomach COSM4768594 CHD8 c.2911C>A p.H971N Substitution - Missense Biliary_tract COSM5641406 PRDM2 c.4234A>G p.M1412V Substitution - Missense Oesophagus COSM1368973 CHD8 c.7148C>T p.P2383L Substitution - Missense Large_intestine COSM909540 SCMH1 c.1578C>T p.V526V Substitution - coding silent Endometrium COSM459606 EP400 c.6713C>T p.P2238L Substitution - Missense Cervix COSM468467 KMT2D c.785C>A p.A262D Substitution - Missense Kidney COSM4856888 CXXC1 c.1021-1G>T p.? Unknown Cervix COSM1720799 TRRAP c.5114G>A p.G1705D Substitution - Missense Skin COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1075 SMARCB1 c.617G>A p.W206* Substitution - Nonsense Central_nervous_system COSM5944385 ASXL1 c.2263delG p.D756fs*16 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4819838 BRWD3 c.161G>A p.R54Q Substitution - Missense Cervix COSM5960014 SIRT1 c.40T>C p.S14P Substitution - Missense Thyroid COSM5634124 KMT2D c.2878G>T p.E960* Substitution - Nonsense Oesophagus COSM1331613 SMARCA2 c.782G>A p.R261K Substitution - Missense Ovary COSM1600922 ASH1L c.5945delC p.P1982fs*27 Deletion - Frameshift Liver COSM4611398 ZMYM2 c.3124delA p.K1044fs*33 Deletion - Frameshift Large_intestine COSM5683138 CARM1 c.1349T>A p.I450N Substitution - Missense Soft_tissue COSM255112 MEN1 c.230_230delA p.Y77fs*42 Deletion - Frameshift Parathyroid COSM359206 SETBP1 c.262G>T p.E88* Substitution - Nonsense Lung COSM5359456 KIAA1045 c.778C>T p.R260* Substitution - Nonsense Large_intestine COSM1458065 NCOA2 c.3766C>T p.Q1256* Substitution - Nonsense Large_intestine COSM4789438 TTF2 c.1524A>T p.L508L Substitution - coding silent Liver COSM3390770 ZMYM3 c.1739G>A p.R580H Substitution - Missense Pancreas COSM5435309 MGA c.7622G>A p.R2541Q Substitution - Missense Oesophagus COSM1392035 DOT1L c.798C>T p.I266I Substitution - coding silent Large_intestine COSM5483477 JMJD1C c.2697C>T p.Y899Y Substitution - coding silent Large_intestine COSM3777801 PHF3 c.1688C>A p.S563Y Substitution - Missense Urinary_tract COSM971428 CHD9 c.4839T>G p.D1613E Substitution - Missense Endometrium COSM5039232 MGA c.5801C>A p.S1934* Substitution - Nonsense Liver COSM4135693 MEN1 c.1241T>C p.L414P Substitution - Missense Pancreas COSM1756774 KDM5A c.4362G>A p.M1454I Substitution - Missense Urinary_tract COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3994915 BRPF3 c.3055A>G p.S1019G Substitution - Missense Kidney COSM1673209 BAZ1B c.3320A>C p.K1107T Substitution - Missense Large_intestine COSM4788471 HDAC9 c.375G>A p.Q125Q Substitution - coding silent Liver COSM3804873 EYA3 c.393T>G p.S131R Substitution - Missense Breast COSM5429141 ASH1L c.7677G>A p.E2559E Substitution - coding silent Oesophagus COSM3379658 PHF8 c.3026G>A p.R1009K Substitution - Missense Pancreas COSM940012 KMT2D c.10366C>T p.Q3456* Substitution - Nonsense Endometrium COSM3570156 ATF2 c.779G>A p.G260E Substitution - Missense Skin COSM1623361 TRRAP c.7249C>T p.L2417L Substitution - coding silent Liver COSM4577262 ZMYM4 c.408A>C p.K136N Substitution - Missense Bone COSM4725182 SETDB1 c.198A>G p.T66T Substitution - coding silent Large_intestine COSM4442502 SETD2 c.2300C>T p.T767M Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5708483 HDAC11 c.436A>G p.S146G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4424470 EP400 c.4141G>A p.G1381S Substitution - Missense Oesophagus COSM2105372 KMT2A c.2162G>A p.R721Q Substitution - Missense Large_intestine COSM5930026 NCOA3 c.2863G>A p.G955S Substitution - Missense Skin COSM1671343 SMARCA5 c.893A>C p.K298T Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1616091 PRDM15 c.4404G>T p.T1468T Substitution - coding silent Liver COSM3995868 PHF20L1 c.167A>G p.E56G Substitution - Missense Kidney COSM216839 TAF1L c.1873C>G p.H625D Substitution - Missense Pancreas COSM384248 KMT2A c.6696C>T p.T2232T Substitution - coding silent Prostate COSM4574819 RSF1 c.1039G>A p.E347K Substitution - Missense Bone COSM5880164 RUVBL1 c.214C>T p.P72S Substitution - Missense Skin COSM3467861 RNF17 c.298G>A p.E100K Substitution - Missense Skin COSM4110217 PHF8 c.1889C>T p.A630V Substitution - Missense Stomach COSM1179724 RSF1 c.2598C>A p.G866G Substitution - coding silent Prostate COSM207998 MECOM c.1839delA p.G614fs*30 Deletion - Frameshift Breast COSM1443784 DAXX c.1884delC p.C629fs*16 Deletion - Frameshift Large_intestine COSM5995401 SETD7 c.981C>T p.A327A Substitution - coding silent Prostate COSM85986 ATRX c.2692G>C p.D898H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6019050 EP300 c.730-20_730-10delCTTTTGTTTCT p.? Unknown Skin COSM1694318 GABRG1 c.98G>A p.G33E Substitution - Missense Skin COSM912525 RERE c.1613A>T p.K538I Substitution - Missense Endometrium COSM4942471 KDM1B c.1473C>A p.T491T Substitution - coding silent Liver COSM4073756 DNMT1 c.1054A>G p.K352E Substitution - Missense Stomach COSM423039 PBRM1 c.215_219delTCATT p.F72fs*1 Deletion - Frameshift Kidney COSM4836063 KDM4B c.3031G>C p.E1011Q Substitution - Missense Cervix COSM4469696 KMT2C c.1614C>T p.L538L Substitution - coding silent Skin COSM4725321 SFMBT2 c.2572C>G p.L858V Substitution - Missense Large_intestine COSM5709787 PRDM1 c.1260_1261insCC p.H422fs*49 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34192 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM2158575 JMJD1C c.1020_1021insA p.D341fs*3 Insertion - Frameshift Large_intestine COSM1123270 PHF8 c.2046T>C p.L682L Substitution - coding silent Endometrium COSM1733218 BRD8 c.531_532insCC p.R178fs*7 Insertion - Frameshift Pancreas COSM87110 TET2 c.2862G>A p.W954* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5751709 CREBBP c.2272_2273insA p.S758fs*74 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3420981 CREBBP c.3832G>A p.E1278K Substitution - Missense Large_intestine COSM3874514 TDRD6 c.873G>A p.T291T Substitution - coding silent Stomach COSM4754811 KMT2D c.10769A>G p.Q3590R Substitution - Missense Stomach COSM1128983 SRCAP c.2952A>C p.P984P Substitution - coding silent Prostate COSM1342960 DMAP1 c.904C>G p.P302A Substitution - Missense Large_intestine COSM276284 NCOA6 c.6056G>A p.R2019Q Substitution - Missense Large_intestine COSM1201016 CHD8 c.2820T>G p.I940M Substitution - Missense Large_intestine COSM3923210 KMT2C c.1068G>A p.Q356Q Substitution - coding silent Skin COSM4385250 EP300 c.3127C>T p.Q1043* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5726267 ASXL1 c.862C>T p.L288L Substitution - coding silent Skin COSM4711395 PBRM1 c.1248_1249insA p.Y417fs*3 Insertion - Frameshift Large_intestine COSM5774265 SMCHD1 c.1470C>G p.F490L Substitution - Missense Breast COSM1228963 TET2 c.3444T>A p.Y1148* Substitution - Nonsense Large_intestine COSM421118 PRDM1 c.1003C>A p.R335R Substitution - coding silent Endometrium COSM739332 NCOA7 c.700G>T p.G234C Substitution - Missense Lung COSM3412539 TRRAP c.2935G>C p.D979H Substitution - Missense Central_nervous_system COSM2022692 MGMT c.163G>T p.G55C Substitution - Missense Large_intestine COSM1755319 ACTB c.373G>A p.E125K Substitution - Missense Urinary_tract COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1209433 HDGFL1 c.446C>T p.A149V Substitution - Missense Large_intestine COSM4435801 KAT6B c.3134A>G p.Y1045C Substitution - Missense Oesophagus COSM1600768 SETDB1 c.2560T>G p.F854V Substitution - Missense Liver COSM1309340 BAP1 c.1968G>C p.K656N Substitution - Missense Urinary_tract COSM4591901 NCOR1 c.618+6T>A p.? Unknown Upper_aerodigestive_tract COSM5736835 ACTL6A c.634G>T p.E212* Substitution - Nonsense Small_intestine COSM436682 HDAC5 c.1700G>A p.G567E Substitution - Missense Breast COSM4016596 BTAF1 c.461G>A p.G154D Substitution - Missense Stomach COSM1192753 CBX5 c.317delA p.K106fs*31 Deletion - Frameshift Large_intestine COSM5566044 CXXC1 c.1294C>T p.R432C Substitution - Missense Prostate COSM5610842 TET2 c.1364C>T p.P455L Substitution - Missense Skin COSM4098439 CHD6 c.6751G>A p.A2251T Substitution - Missense Stomach COSM5585402 HDAC1 c.1386G>A p.E462E Substitution - coding silent Skin COSM5548638 TDRD6 c.421G>A p.A141T Substitution - Missense Prostate COSM1179669 KMT2C c.943G>A p.G315S Substitution - Missense Central_nervous_system COSM1449852 HDAC9 c.3170+1G>A p.? Unknown Large_intestine COSM302644 KMT2D c.15550C>T p.R5184* Substitution - Nonsense Endometrium COSM1966238 TAF3 c.465G>T p.Q155H Substitution - Missense Large_intestine COSM4061902 CTCF c.981C>T p.C327C Substitution - coding silent Stomach COSM5482583 RERE c.2474C>A p.P825Q Substitution - Missense Large_intestine COSM5802215 HAT1 c.89_90delAC p.T31fs*3 Deletion - Frameshift Breast COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM51430 ARID1A c.2424_2425insT p.Y809fs*8 Insertion - Frameshift Ovary COSM3488239 PRDM16 c.2727G>C p.E909D Substitution - Missense Skin COSM4981436 PSIP1 c.928G>A p.E310K Substitution - Missense Oesophagus COSM4072231 SETBP1 c.987T>C p.P329P Substitution - coding silent Stomach COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM4987362 ELP3 c.1619C>T p.P540L Substitution - Missense Soft_tissue COSM3668741 SUV39H1 c.301C>T p.H101Y Substitution - Missense Liver COSM13857 CHD6 c.5860G>A p.E1954K Substitution - Missense Lung COSM1704247 KAT5 c.1132G>A p.D378N Substitution - Missense Skin COSM426827 BRDT c.1625C>G p.P542R Substitution - Missense Breast COSM1027510 EYA2 c.1147C>T p.R383C Substitution - Missense Endometrium COSM3377366 CHD8 c.3533G>A p.R1178H Substitution - Missense Pancreas COSM1321119 ZMYM4 c.1169C>T p.S390L Substitution - Missense Ovary COSM1162899 TDRD1 c.416_417insA p.L142fs*13 Insertion - Frameshift Pancreas COSM4925669 SETDB2 c.907A>G p.T303A Substitution - Missense Liver COSM1083678 MLL5 c.2704G>A p.D902N Substitution - Missense Large_intestine COSM2965387 KDM6A c.2364C>T p.A788A Substitution - coding silent Upper_aerodigestive_tract COSM1469476 ATRX c.2899A>T p.K967* Substitution - Nonsense Large_intestine COSM1093618 TRRAP c.4161C>T p.I1387I Substitution - coding silent Endometrium COSM1738286 HDAC9 c.1757G>A p.R586H Substitution - Missense Ovary COSM1714508 BRD1 c.429C>G p.I143M Substitution - Missense Skin COSM907756 ARID1A c.6624delC p.Q2209fs*22 Deletion - Frameshift Endometrium COSM2152566 TTF2 c.57C>T p.V19V Substitution - coding silent Central_nervous_system COSM4383940 TET2 c.4136C>T p.A1379V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4437503 KMT2C c.14682_14684delGCA p.Q4894delQ Deletion - In frame Oesophagus COSM608358 TAF1L c.3239G>A p.R1080H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5376548 RNF17 c.17C>T p.S6L Substitution - Missense Skin COSM451360 BRPF3 c.1903G>A p.D635N Substitution - Missense Breast COSM1025733 ASXL1 c.3682G>T p.E1228* Substitution - Nonsense Large_intestine COSM5625721 ASH1L c.7307G>C p.R2436P Substitution - Missense Oesophagus COSM5038377 UHRF1 c.372T>C p.G124G Substitution - coding silent Skin COSM1755349 BAZ1B c.1449A>T p.K483N Substitution - Missense Urinary_tract COSM907725 ARID1A c.4225C>T p.Q1409* Substitution - Nonsense Endometrium COSM4396343 PRDM9 c.112G>A p.E38K Substitution - Missense Skin COSM3967937 TDG c.590C>T p.T197M Substitution - Missense Central_nervous_system COSM1640439 GTF3C1 c.4580delT p.L1527fs*46 Deletion - Frameshift Stomach COSM5978391 INO80B c.775A>G p.M259V Substitution - Missense Upper_aerodigestive_tract COSM5945066 TET2 c.4889C>G p.S1630* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1716573 BAP1 c.38-?_122+?del p.? Unknown Pleura COSM203096 ATAD2 c.354delA p.E119fs*8 Deletion - Frameshift Large_intestine COSM1484685 ZBTB38 c.780G>A p.P260P Substitution - coding silent Breast COSM5501016 RNF17 c.484T>C p.F162L Substitution - Missense Biliary_tract COSM1114785 SMARCA1 c.2147G>T p.R716I Substitution - Missense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4936826 BAG6 c.2994A>T p.S998S Substitution - coding silent Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM466004 TAF3 c.2400G>T p.A800A Substitution - coding silent Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1607480 CHD8 c.6906A>T p.E2302D Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5347464 DNMT3A c.2718_2721delGGAG p.K906fs*>6 Deletion - Frameshift Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM250045 ATRX c.2210_2216delTCCTCAA p.I737fs*3 Deletion - Frameshift Central_nervous_system COSM1158910 BRD9 c.378G>A p.L126L Substitution - coding silent Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1289009 ZBTB4 c.1010A>C p.Y337S Substitution - Missense Central_nervous_system COSM4094351 CAMKMT c.214T>C p.S72P Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5366488 EP300 c.454G>T p.G152C Substitution - Missense Large_intestine COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM3390649 KDM6A c.3646G>A p.D1216N Substitution - Missense Oesophagus COSM1087568 KMT2C c.7769A>G p.H2590R Substitution - Missense Endometrium COSM1484684 ZBTB38 c.426A>C p.G142G Substitution - coding silent Breast COSM4094919 SMEK2 c.1565G>A p.R522H Substitution - Missense Stomach COSM5452096 GATAD2B c.71G>A p.R24Q Substitution - Missense Large_intestine COSM1051604 SMARCA5 c.894A>C p.K298N Substitution - Missense Endometrium COSM1626156 BRWD3 c.3146A>G p.Q1049R Substitution - Missense Liver COSM132968 ASXL1 c.? p.E635fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM694445 BAZ2A_ENST00000379441 c.4541A>T p.D1514V Substitution - Missense Lung COSM132968 ASXL1 c.? p.E635fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM5686474 CHD8 c.4286G>T p.R1429L Substitution - Missense Soft_tissue COSM4826639 ATAD2 c.2163G>A p.Q721Q Substitution - coding silent Cervix COSM1227529 SRCAP c.7787C>T p.S2596L Substitution - Missense Large_intestine COSM360592 MSL3 c.1474G>T p.A492S Substitution - Missense Lung COSM4442943 ZBTB38 c.1801G>T p.G601C Substitution - Missense Large_intestine COSM743364 PHF3 c.1675C>T p.Q559* Substitution - Nonsense Lung COSM1186023 MBD5 c.3253G>C p.V1085L Substitution - Missense Lung COSM1009807 ATF2 c.799C>T p.P267S Substitution - Missense Endometrium COSM1609210 SRCAP c.5894G>T p.R1965L Substitution - Missense Liver COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Liver COSM35337 ASXL1 c.1830C>T p.G610G Substitution - coding silent Oesophagus COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM51483 ARID1A c.4624G>T p.E1542* Substitution - Nonsense Liver COSM80333 PHF3 c.3561A>T p.P1187P Substitution - coding silent Ovary COSM71633 MGA c.7451G>A p.R2484Q Substitution - Missense Ovary COSM108512 MBD5 c.3043C>T p.Q1015* Substitution - Nonsense Skin COSM97191 TET2 c.4893T>A p.Y1631* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM133033 ASXL1 c.4189G>A p.G1397S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM137044 JMJD5 c.46G>A p.G16S Substitution - Missense Skin COSM187620 CHD6 c.198G>T p.E66D Substitution - Missense Large_intestine COSM218274 ERCC6 c.2204G>A p.R735Q Substitution - Missense Pancreas COSM229269 TP53BP1 c.1499C>T p.S500F Substitution - Missense Skin COSM241240 PRDM14 c.1586A>G p.H529R Substitution - Missense Prostate COSM255588 KDM4C c.843delT p.F281fs*35 Deletion - Frameshift Central_nervous_system COSM260531 DNMT1 c.1453G>A p.E485K Substitution - Missense Large_intestine COSM263782 AP001011.3_ENST00000320876 c.3781G>T p.D1261Y Substitution - Missense Large_intestine COSM263788 AP001011.3_ENST00000320876 c.5602C>T p.R1868* Substitution - Nonsense Large_intestine COSM299064 ASXL3 c.1722C>T p.S574S Substitution - coding silent Large_intestine COSM326247 PRMT8 c.319A>C p.K107Q Substitution - Missense Lung COSM393568 HDAC4 c.2784G>T p.L928L Substitution - coding silent Lung COSM452726 KMT2C c.2722G>T p.G908C Substitution - Missense Soft_tissue COSM598367 PHF14 c.1342C>T p.R448C Substitution - Missense Skin COSM483939 DAXX c.2045C>G p.S682C Substitution - Missense Kidney COSM693643 KMT2D c.1113-2A>T p.? Unknown Lung COSM688159 ALKBH3 c.499G>C p.E167Q Substitution - Missense Lung COSM942090 MBD6 c.1843T>C p.S615P Substitution - Missense Endometrium COSM937152 EP400 c.2766G>T p.E922D Substitution - Missense Endometrium COSM939972 KMT2D c.15369C>T p.T5123T Substitution - coding silent Endometrium COSM1019168 NCOA1 c.2894G>A p.G965E Substitution - Missense Endometrium COSM921440 BTAF1 c.4472C>T p.A1491V Substitution - Missense Endometrium COSM734368 GABRG1 c.497G>A p.R166H Substitution - Missense Lung COSM928935 GLYATL1 c.913C>T p.R305C Substitution - Missense Oesophagus COSM957493 EZH2 c.450_450delA p.N152fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1067095 PRDM9 c.2516G>A p.R839Q Substitution - Missense Skin COSM1066218 NSD1 c.1837C>A p.L613M Substitution - Missense Endometrium COSM1061359 KDM3B c.4253C>T p.S1418L Substitution - Missense Endometrium COSM1114016 ZBTB33 c.13A>C p.K5Q Substitution - Missense Endometrium COSM1114020 ZBTB33 c.335T>A p.F112Y Substitution - Missense Endometrium COSM1125463 ATRX c.3664G>A p.D1222N Substitution - Missense Endometrium COSM1114787 SMARCA1 c.1852C>T p.R618C Substitution - Missense Endometrium COSM1109583 KDM4C c.1136C>T p.T379I Substitution - Missense Endometrium COSM1117773 HCFC1 c.37G>A p.E13K Substitution - Missense Endometrium COSM1131333 SETD5_ENST00000402198 c.682G>A p.D228N Substitution - Missense Prostate COSM1243336 KDM5A c.820G>A p.A274T Substitution - Missense Oesophagus COSM1165282 KIAA2026_ENST00000399933 c.4999G>A p.V1667M Substitution - Missense Large_intestine COSM1161463 DHX30 c.2210C>A p.S737Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1394641 KDM4B c.1712C>T p.T571M Substitution - Missense Large_intestine COSM1386958 CBX4 c.816C>T p.N272N Substitution - coding silent Large_intestine COSM1447864 SND1 c.1535delA p.A514fs*156 Deletion - Frameshift Pancreas COSM1364339 APOBEC1 c.352C>T p.R118W Substitution - Missense Large_intestine COSM1608849 CHD2 c.500A>G p.E167G Substitution - Missense Liver COSM1580323 SETD2 c.2866C>T p.R956* Substitution - Nonsense Central_nervous_system COSM1580343 TP53BP1 c.3026-1G>A p.? Unknown Central_nervous_system COSM1667287 ARID1A c.1756C>T p.Q586* Substitution - Nonsense Ovary COSM1675220 ERCC6 c.3844G>A p.V1282M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1736492 SP100 c.724G>A p.A242T Substitution - Missense Central_nervous_system COSM1727958 PHF10 c.275A>G p.Y92C Substitution - Missense Liver COSM1757128 NIPBL c.2228G>A p.R743H Substitution - Missense Urinary_tract COSM1751636 BRWD1 c.5745G>C p.K1915N Substitution - Missense Urinary_tract COSM1756702 UTY c.2479C>T p.Q827* Substitution - Nonsense Urinary_tract COSM1734831 PHF7 c.559C>T p.R187C Substitution - Missense Pancreas COSM1970728 HELLS c.1095T>G p.R365R Substitution - coding silent Upper_aerodigestive_tract COSM1965153 KAT6B c.3984A>G p.E1328E Substitution - coding silent Large_intestine COSM2030058 CHD8 c.3765C>T p.Y1255Y Substitution - coding silent Large_intestine COSM2145532 ERCC6 c.560delA p.K187fs*18 Deletion - Frameshift Large_intestine COSM2804925 BAHCC1 c.1340A>G p.E447G Substitution - Missense Large_intestine COSM2853464 BAP1 c.1518A>G p.P506P Substitution - coding silent Large_intestine COSM3296115 MBD5 c.882G>A p.R294R Substitution - coding silent Upper_aerodigestive_tract COSM3296310 EPC2 c.2124A>G p.L708L Substitution - coding silent Upper_aerodigestive_tract COSM3402361 CHD9 c.8645C>A p.S2882Y Substitution - Missense Central_nervous_system COSM3484908 ACTA1 c.341C>T p.P114L Substitution - Missense Skin COSM3421676 MYST2 c.266C>T p.P89L Substitution - Missense Large_intestine COSM3467259 ING1 c.273C>T p.I91I Substitution - coding silent Skin COSM3445290 PRDM10 c.2940C>T p.I980I Substitution - coding silent Skin COSM3622984 PHF10 c.613C>T p.P205S Substitution - Missense Skin COSM3662678 PHF3 c.151G>A p.D51N Substitution - Missense Liver COSM3692116 SETBP1 c.1491G>A p.P497P Substitution - coding silent Large_intestine COSM3688407 CHD4 c.3448C>T p.P1150S Substitution - Missense Large_intestine COSM3720051 TET2 c.2113C>T p.Q705* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3733684 KMT2C c.10659_10660insT p.T3554fs*12 Insertion - Frameshift Pancreas COSM3754930 CHD9 c.3849G>A p.Q1283Q Substitution - coding silent Large_intestine COSM3764436 CHD4 c.3598C>T p.R1200W Substitution - Missense Central_nervous_system COSM3778213 EZH2 c.1368C>T p.F456F Substitution - coding silent Oesophagus COSM3842811 TCF20 c.2063C>G p.A688G Substitution - Missense Breast COSM3945767 BRPF1 c.2316C>T p.A772A Substitution - coding silent Lung COSM3974504 PBRM1 c.4080C>T p.P1360P Substitution - coding silent Central_nervous_system COSM4018349 KMT2A c.11462G>A p.R3821Q Substitution - Missense Stomach COSM4006758 BAZ1B c.2987G>C p.S996T Substitution - Missense Urinary_tract COSM4041748 KDM5A c.3122C>T p.P1041L Substitution - Missense Stomach COSM3984985 PRDM16 c.2751C>T p.D917D Substitution - coding silent Kidney COSM3993484 SMARCA5 c.424C>T p.R142* Substitution - Nonsense Kidney COSM4107271 FMR1 c.300T>C p.D100D Substitution - coding silent Stomach COSM4069237 PHF23 c.353G>A p.R118H Substitution - Missense Stomach COSM4073757 DNMT1 c.898G>A p.E300K Substitution - Missense Stomach COSM4164673 DNMT3B c.2188C>T p.H730Y Substitution - Missense Kidney COSM4164740 ZMYND8 c.2281G>T p.D761Y Substitution - Missense Kidney COSM4163146 TDRD7 c.266G>C p.R89P Substitution - Missense Biliary_tract COSM4168310 KDM6A c.3337_3338insAT p.V1113fs*8 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4171674 ACTB c.33C>G p.D11E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4383544 DNMT3A c.2194T>C p.F732L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4401837 ATF2 c.1248A>G p.K416K Substitution - coding silent Skin COSM4603241 KDM6B c.761_762insACCACC p.P264_L265insPP Insertion - In frame Upper_aerodigestive_tract COSM4414653 SMARCA5 c.1415A>C p.Y472S Substitution - Missense Kidney COSM4516403 BAZ1A c.1893_1894GG>AA p.D632N Substitution - Missense Skin COSM4583907 RUVBL1 c.883G>T p.V295F Substitution - Missense Bone COSM4590278 KDM2A c.310A>G p.S104G Substitution - Missense Soft_tissue COSM4702913 MORF4L1 c.897G>A p.A299A Substitution - coding silent Large_intestine COSM4666312 BTAF1 c.2403_2404delAA p.L801fs*6 Deletion - Frameshift Large_intestine COSM4671960 CHD2 c.297G>A p.M99I Substitution - Missense Large_intestine COSM4694063 KAT6B c.105G>A p.A35A Substitution - coding silent Large_intestine COSM4632806 KDM4B c.1332G>A p.K444K Substitution - coding silent Large_intestine COSM4611655 HDAC2 c.33delA p.V12fs*20 Deletion - Frameshift Stomach COSM4617689 CTCF c.638G>A p.R213H Substitution - Missense Large_intestine COSM4752034 SRCAP c.9298G>A p.G3100R Substitution - Missense Pancreas COSM4796745 BAZ2A c.2389G>A p.G797R Substitution - Missense Liver COSM4920313 TCF20 c.4954G>C p.A1652P Substitution - Missense Liver COSM4903174 MBD1 c.851C>T p.P284L Substitution - Missense Skin COSM4849276 KDM6A c.748+1G>A p.? Unknown Cervix COSM4949437 SETD6 c.1334T>G p.L445W Substitution - Missense Liver COSM4949832 POGZ c.1463C>G p.P488R Substitution - Missense Liver COSM5025123 KMT2D c.1996C>T p.P666S Substitution - Missense Breast COSM5009363 TAF1 c.2103G>T p.K701N Substitution - Missense Large_intestine COSM5225393 SUV420H1 c.2090_2092delAGA p.K697delK Deletion - In frame Breast COSM5048190 ATRX c.55C>T p.H19Y Substitution - Missense Oesophagus COSM5396712 DNMT3A c.1228G>A p.A410T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5483808 ARID1A c.6259G>T p.G2087* Substitution - Nonsense Large_intestine COSM5487560 SMYD5 c.695G>C p.C232S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5432726 PRDM10 c.3201G>A p.Q1067Q Substitution - coding silent Breast COSM5450158 PRDM13 c.598G>A p.A200T Substitution - Missense Large_intestine COSM5634420 KDM4C c.2487C>G p.Y829* Substitution - Nonsense Oesophagus COSM5574750 MGA c.3224_3240del17 p.C1076fs*10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5576079 KAT6B c.1549C>G p.P517A Substitution - Missense Stomach COSM5717170 WHSC1 c.3039C>T p.I1013I Substitution - coding silent Skin COSM5719265 KDM4A c.683C>T p.P228L Substitution - Missense Skin COSM5608702 EZH2 c.1504C>T p.R502W Substitution - Missense Skin COSM5680489 CHD8 c.3977G>T p.C1326F Substitution - Missense Soft_tissue COSM5556004 PHRF1 c.2285G>C p.G762A Substitution - Missense Prostate COSM5814711 CTCF c.967A>T p.K323* Substitution - Nonsense Liver COSM5807737 NSD1 c.5960A>G p.Y1987C Substitution - Missense Upper_aerodigestive_tract COSM5933803 DNMT1 c.1559C>T p.S520F Substitution - Missense Skin COSM5988642 DNMT1 c.1720C>T p.P574S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5985973 NCOR1 c.3685C>T p.R1229* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5998656 TAF1L c.1832C>A p.S611* Substitution - Nonsense Prostate COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM42003 TET2 c.4019T>C p.L1340P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53169 TET2 c.? p.S1303fs*58 Frameshift Haematopoietic_and_lymphoid_tissue COSM144629 PHF6 c.? p.R274* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM132980 ASXL1 c.? p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4169842 BAP1 c.? p.E54* Substitution - Nonsense Adrenal_gland COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53114 TET2 c.? p.Q1529* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM97048 IDH2 c.? p.R140? Unknown Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM86966 IKZF1 c.? p.G158S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3727849 TRIM66 c.1888C>G p.L630V Substitution - Missense Upper_aerodigestive_tract COSM3969840 NCOR1 c.6725C>G p.T2242S Substitution - Missense Central_nervous_system COSM5054795 GTF3C1 c.688C>T p.R230* Substitution - Nonsense Stomach COSM1482847 SP110 c.470G>A p.S157N Substitution - Missense Meninges COSM4989969 ERCC6 c.2013C>T p.I671I Substitution - coding silent Skin COSM3729124 ZMYM1 c.1361G>A p.R454Q Substitution - Missense Stomach COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM382493 TRRAP c.5197G>T p.A1733S Substitution - Missense Lung COSM1257396 MBD1 c.1327G>C p.A443P Substitution - Missense Stomach COSM5987891 BAZ1A c.4207G>A p.E1403K Substitution - Missense Salivary_gland COSM4999664 TDRD5 c.2663C>A p.A888E Substitution - Missense Pancreas COSM122851 EP300 c.4195G>A p.D1399N Substitution - Missense Central_nervous_system COSM3727849 TRIM66 c.1888C>G p.L630V Substitution - Missense Upper_aerodigestive_tract COSM3728525 KMT2C c.8244C>A p.L2748L Substitution - coding silent Stomach COSM4120751 BRPF1 c.3504G>C p.L1168L Substitution - coding silent Stomach COSM4106105 MSL3 c.614A>G p.N205S Substitution - Missense Stomach COSM4543247 PRDM10 c.3332G>A p.G1111D Substitution - Missense Skin COSM144613 KMT2D c.13324G>T p.E4442* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1196531 KDM4A c.1529C>G p.S510C Substitution - Missense Lung COSM3510035 BRD7 c.1400T>G p.L467* Substitution - Nonsense Skin COSM1100888 CHD7 c.7381C>T p.L2461F Substitution - Missense Endometrium COSM2813352 CARM1 c.778G>T p.G260C Substitution - Missense Large_intestine COSM5780956 MGA c.7871G>C p.R2624T Substitution - Missense Breast COSM4994310 SMCHD1 c.2923A>C p.N975H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM675212 GATAD2B c.485G>T p.R162L Substitution - Missense Lung COSM22575 MEN1 c.1539_1540insC p.R516fs*15 Insertion - Frameshift Parathyroid COSM4608349 KMT2A c.500C>A p.S167* Substitution - Nonsense Adrenal_gland COSM1746181 SIRT3 c.1037A>T p.D346V Substitution - Missense Urinary_tract COSM24937 HNF1A c.1108-2A>G p.? Unknown Liver COSM4853260 KDM6A c.2441C>T p.S814F Substitution - Missense Cervix COSM3733522 NCOR1 c.59A>C p.Y20S Substitution - Missense Upper_aerodigestive_tract COSM5825383 MORF4L1 c.343C>A p.L115I Substitution - Missense Pancreas COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM3033660 MECP2 c.1135C>T p.P379S Substitution - Missense Large_intestine COSM5631242 RNF134 c.414A>G p.K138K Substitution - coding silent Oesophagus COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM4768020 DNMT3A c.2350G>A p.E784K Substitution - Missense Biliary_tract COSM299325 MBD5 c.208C>A p.L70I Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM254973 TDRD1 c.2005G>C p.D669H Substitution - Missense Urinary_tract COSM985855 BAHCC1 c.5470C>T p.R1824C Substitution - Missense Endometrium COSM5430872 TIF1 c.2376G>A p.E792E Substitution - coding silent Oesophagus COSM1030717 BRWD1 c.1516C>T p.H506Y Substitution - Missense Endometrium COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM5990193 HNF1A c.34_35insAG p.L12fs*11 Insertion - Frameshift Liver COSM1684657 HDAC10 c.1595delG p.G533fs*18 Deletion - Frameshift Large_intestine COSM5352128 PHF2 c.2242G>A p.G748S Substitution - Missense Kidney COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM431138 KDM5A c.735G>A p.G245G Substitution - coding silent Breast COSM1617674 SETD2 c.3809G>T p.R1270L Substitution - Missense Liver COSM981690 AKAP1 c.2131G>A p.E711K Substitution - Missense Endometrium COSM998 SMARCB1 c.1121G>A p.R374Q Substitution - Missense Skin COSM21251 TAF1L c.5472C>A p.H1824Q Substitution - Missense Lung COSM4501354 PHF17 c.586C>T p.L196L Substitution - coding silent Skin COSM255980 TDRD6 c.1028T>C p.V343A Substitution - Missense Central_nervous_system COSM4817457 KDM1B c.1480G>A p.D494N Substitution - Missense Cervix COSM1051860 PRMT10 c.702G>A p.T234T Substitution - coding silent Endometrium COSM5893089 ARID1B c.6116T>G p.V2039G Substitution - Missense Skin COSM5739641 KMT2D c.7615C>T p.P2539S Substitution - Missense Small_intestine COSM756937 SMC1A c.1025C>T p.S342L Substitution - Missense Lung COSM5975955 BRPF3 c.2875T>C p.S959P Substitution - Missense Upper_aerodigestive_tract COSM3604094 GABRG1 c.613G>A p.E205K Substitution - Missense Skin COSM741032 KDM1B c.1064C>T p.A355V Substitution - Missense Lung COSM5961399 CHD2 c.2357T>C p.L786P Substitution - Missense Adrenal_gland COSM1666833 CBX4 c.1514T>C p.V505A Substitution - Missense Liver COSM4890855 ERCC6 c.4450G>C p.G1484R Substitution - Missense Upper_aerodigestive_tract COSM5802743 TDRD1 c.6T>A p.S2R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3420288 RTF1 c.713G>A p.R238Q Substitution - Missense Large_intestine COSM4232590 LBR c.902C>T p.A301V Substitution - Missense Upper_aerodigestive_tract COSM1692153 SP100 c.1721G>A p.G574E Substitution - Missense Skin COSM1480846 DOT1L c.186C>A p.D62E Substitution - Missense Breast COSM370389 PHRF1 c.2553C>T p.P851P Substitution - coding silent Lung COSM308044 HDAC2 c.232C>T p.R78W Substitution - Missense Biliary_tract COSM3505525 CHD2 c.1621C>T p.P541S Substitution - Missense Skin COSM3596168 PBRM1 c.4570C>T p.L1524L Substitution - coding silent Skin COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4232590 LBR c.902C>T p.A301V Substitution - Missense Upper_aerodigestive_tract COSM85831 MEN1 c.547T>C p.W183R Substitution - Missense Pancreas COSM3053489 SMEK2 c.580T>C p.L194L Substitution - coding silent Upper_aerodigestive_tract COSM4793228 SETD2 c.4477C>T p.Q1493* Substitution - Nonsense Liver COSM1331835 HDAC6 c.3244G>A p.G1082R Substitution - Missense Ovary COSM5993143 ARID1A c.1309C>T p.R437W Substitution - Missense Prostate COSM4426054 GLYATL1 c.627T>C p.Y209Y Substitution - coding silent Oesophagus COSM4843638 ZMYND11 c.592G>T p.A198S Substitution - Missense Cervix COSM4508870 AIRE c.78C>A p.F26L Substitution - Missense Skin COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Biliary_tract COSM3528106 DNMT1 c.2268C>T p.T756T Substitution - coding silent Skin COSM2739012 NCOR1 c.3405C>T p.T1135T Substitution - coding silent Thyroid COSM300697 GLYR1 c.511C>G p.R171G Substitution - Missense Large_intestine COSM4400131 MTA2 c.1176T>G p.A392A Substitution - coding silent Skin COSM1620722 PRDM1 c.756C>T p.S252S Substitution - coding silent Liver COSM432869 PRMT5 c.115G>C p.D39H Substitution - Missense Breast COSM4820051 CBX1 c.465G>A p.K155K Substitution - coding silent Cervix COSM5424431 TAF1L c.4677T>C p.Y1559Y Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4136069 MBD5 c.4422A>G p.Q1474Q Substitution - coding silent Ovary COSM1633461 SETD7 c.684A>G p.E228E Substitution - coding silent Liver COSM4789290 SFMBT1 c.159G>A p.G53G Substitution - coding silent Liver COSM1422293 ZCWPW2 c.583G>T p.E195* Substitution - Nonsense Large_intestine COSM1071564 PRDM13 c.592G>A p.D198N Substitution - Missense Endometrium COSM684472 EPC1 c.616G>A p.D206N Substitution - Missense Lung COSM150849 JMJD1C c.2816_2821delGTTTAG p.G939_L940delGL Deletion - In frame Pancreas COSM1124887 TAF1 c.2286C>A p.F762L Substitution - Missense Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4987287 WHSC1 c.1364A>G p.D455G Substitution - Missense Soft_tissue COSM745889 KMT2C c.10356C>T p.P3452P Substitution - coding silent Lung COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3596278 SFMBT1 c.1438C>T p.H480Y Substitution - Missense Skin COSM1383595 HDAC5 c.2763C>T p.N921N Substitution - coding silent Large_intestine COSM4595578 CHD1 c.2302C>T p.P768S Substitution - Missense Upper_aerodigestive_tract COSM5714267 ACTB c.142G>A p.G48S Substitution - Missense Skin COSM4410278 KMT2D c.9765G>A p.L3255L Substitution - coding silent Oesophagus COSM3656086 EHMT1 c.1214C>T p.P405L Substitution - Missense Skin COSM1717900 ASXL1 c.2598A>G p.L866L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1717900 ASXL1 c.2598A>G p.L866L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM87783 KAT2B c.409C>T p.R137W Substitution - Missense Pancreas COSM4467754 ZMYM6 c.1506C>T p.L502L Substitution - coding silent Skin COSM4498259 SRCAP c.5169C>T p.S1723S Substitution - coding silent Skin COSM1748819 BAZ1A c.1651G>C p.E551Q Substitution - Missense Urinary_tract COSM4929541 BAZ2B c.2062G>C p.G688R Substitution - Missense Liver COSM3676520 CHD4 c.526A>C p.T176P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5730603 SETD2 c.3512_3514delAAG p.E1171delE Deletion - In frame Breast COSM1746135 PRDM10 c.1736C>A p.S579* Substitution - Nonsense Urinary_tract COSM5631206 KDM6A c.600C>A p.C200* Substitution - Nonsense Oesophagus COSM1716412 CTCF c.422_426AAGTG>T p.E141fs*12 Complex - frameshift Endometrium COSM5945247 KDM5A c.1329G>A p.W443* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4580201 KDM6B c.2559G>A p.A853A Substitution - coding silent Bone COSM5966647 KMT2D c.62C>T p.A21V Substitution - Missense Adrenal_gland COSM1619761 HDAC3 c.476+10C>A p.? Unknown Liver COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5413321 ARID2 c.5065A>T p.K1689* Substitution - Nonsense Skin COSM5902855 ZCWPW1 c.452C>T p.S151F Substitution - Missense Skin COSM236027 ARID1A c.3223delG p.E1075fs*18 Deletion - Frameshift Autonomic_ganglia COSM86913 SP140_ENST00000392045 c.1563T>C p.N521N Substitution - coding silent Ovary COSM5575746 ASXL1 c.4391C>G p.P1464R Substitution - Missense Stomach COSM4551505 TAF1L c.5305G>A p.G1769R Substitution - Missense Skin COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1166698 DNMT1 c.4309C>T p.R1437C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4833129 SMYD1 c.1353C>T p.F451F Substitution - coding silent Cervix COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1095751 ATAD2 c.2613G>A p.P871P Substitution - coding silent Endometrium COSM3950358 STK31 c.1372G>T p.E458* Substitution - Nonsense Lung COSM205721 SHPRH c.3181C>T p.R1061C Substitution - Missense Large_intestine COSM4969702 ATAD2B_ENST00000238789 c.2492T>C p.V831A Substitution - Missense Central_nervous_system COSM3910745 SMYD1 c.53G>A p.G18E Substitution - Missense Skin COSM1644335 ARID1A c.5541_5542insG p.D1850fs*4 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1645266 PRDM16 c.1982G>T p.S661I Substitution - Missense Large_intestine COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4833060 DHX30 c.2401G>C p.E801Q Substitution - Missense Cervix COSM5620226 AICDA c.86T>C p.L29P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3950213 KMT2C c.442G>A p.G148R Substitution - Missense Lung COSM5980013 PHRF1 c.3488G>A p.R1163Q Substitution - Missense Upper_aerodigestive_tract COSM253734 HDAC4 c.591C>T p.S197S Substitution - coding silent Urinary_tract COSM4655208 KMT2D c.593C>T p.A198V Substitution - Missense Large_intestine COSM5023363 L3MBTL3 c.1957G>A p.E653K Substitution - Missense Oesophagus COSM1049107 MINA c.61C>T p.Q21* Substitution - Nonsense Endometrium COSM5511530 MTF2 c.1012_1014delAAG p.K341delK Deletion - In frame Biliary_tract COSM3494946 CHD8 c.2347C>T p.P783S Substitution - Missense Skin COSM97181 PRDM1 c.37_183+46del193 p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3307052 HDAC9 c.542+1G>A p.? Unknown Upper_aerodigestive_tract COSM251158 TAF1L c.3782A>T p.K1261M Substitution - Missense Liver COSM4549924 PHF15 c.486G>A p.L162L Substitution - coding silent Skin COSM96927 TET2 c.2095T>A p.L699M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5881810 BRDT c.418G>T p.V140L Substitution - Missense Skin COSM1257619 MEN1 c.871C>T p.P291S Substitution - Missense Stomach COSM5697454 KMT2D c.10141C>T p.Q3381* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1284111 CHD8 c.1138C>T p.Q380* Substitution - Nonsense Autonomic_ganglia COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1639855 ZMYM4 c.591_592insT p.D200fs*1 Insertion - Frameshift Small_intestine COSM5809846 PYGO2 c.326G>A p.G109D Substitution - Missense Liver COSM1067082 PRDM9 c.1284G>T p.E428D Substitution - Missense Endometrium COSM28788 KDM6A c.3445_3446delAA p.N1149fs*1 Deletion - Frameshift Kidney COSM1190280 NCOA3 c.3889G>C p.A1297P Substitution - Missense Lung COSM2077913 HDAC1 c.199T>C p.Y67H Substitution - Missense Large_intestine COSM908642 ZMYM1 c.1631C>T p.S544L Substitution - Missense Stomach COSM3771451 TDRKH c.457G>T p.A153S Substitution - Missense Pancreas COSM5995331 GABRG1 c.1383C>T p.G461G Substitution - coding silent Prostate COSM5358112 TIF1 c.767A>G p.Y256C Substitution - Missense Large_intestine COSM1246253 BRWD1 c.5446_5447insA p.T1816fs*6 Insertion - Frameshift Oesophagus COSM4607987 KMT2C c.5290C>A p.Q1764K Substitution - Missense Adrenal_gland COSM87297 IKZF1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5600714 TP53BP1 c.3266C>T p.P1089L Substitution - Missense Skin COSM895000 PRDM2 c.121C>T p.R41W Substitution - Missense Endometrium COSM133463 SHPRH c.2829_2830GG>AT p.D944Y Substitution - Missense Ovary COSM4134608 NCOA3 c.3563G>A p.R1188Q Substitution - Missense Thyroid COSM1468236 SUV39H1 c.588delG p.A198fs*140 Deletion - Frameshift Large_intestine COSM5894445 SND1 c.122G>A p.G41D Substitution - Missense Skin COSM1298643 RSF1 c.4250C>G p.A1417G Substitution - Missense Urinary_tract COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM138508 PHF15 c.1528C>T p.L510F Substitution - Missense Skin COSM4614308 RAI1 c.3097delC p.Q1035fs*29 Deletion - Frameshift Large_intestine COSM4802290 KDM5D c.2502G>T p.Q834H Substitution - Missense Liver COSM2976776 PHF23 c.1125C>T p.V375V Substitution - coding silent Upper_aerodigestive_tract COSM84864 PRDM5 c.253G>A p.V85I Substitution - Missense Large_intestine COSM3515527 PHF12 c.2307A>T p.S769S Substitution - coding silent Skin COSM127627 CHD5 c.108C>T p.F36F Substitution - coding silent Upper_aerodigestive_tract COSM3359764 KMT2D c.3306A>G p.L1102L Substitution - coding silent Kidney COSM1583133 DNMT3A c.2710C>G p.P904A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4732879 TDG c.184A>G p.K62E Substitution - Missense Large_intestine COSM5075568 SETD2 c.2150C>T p.T717I Substitution - Missense Kidney COSM4514578 DHX30 c.97C>T p.P33S Substitution - Missense Skin COSM1677488 EP400 c.3301G>A p.E1101K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4406882 ARID1B c.4578G>A p.P1526P Substitution - coding silent Soft_tissue COSM969922 SRCAP c.1489T>C p.S497P Substitution - Missense Endometrium COSM226200 EYA1 c.752C>T p.S251F Substitution - Missense Skin COSM5444054 EP300 c.4576G>A p.E1526K Substitution - Missense Oesophagus COSM1176754 BRD7 c.1652G>A p.R551K Substitution - Missense Endometrium COSM5960673 KMT2C c.12887C>G p.P4296R Substitution - Missense Breast COSM5903033 SMARCD1 c.1100C>T p.S367F Substitution - Missense Skin COSM5606488 DOT1L c.4392C>T p.F1464F Substitution - coding silent Skin COSM146934 ERCC6 c.2751C>T p.G917G Substitution - coding silent Large_intestine COSM4968344 TRIM66 c.3479A>T p.D1160V Substitution - Missense Adrenal_gland COSM5835374 KMT2C c.1484_1485insCC p.E495fs*42 Insertion - Frameshift Breast COSM3546371 CHD6 c.2569C>T p.L857L Substitution - coding silent Skin COSM1262958 PRDM9 c.724C>A p.L242M Substitution - Missense Oesophagus COSM3508232 GTF3C1 c.2186C>T p.P729L Substitution - Missense Skin COSM203096 ATAD2 c.354delA p.E119fs*8 Deletion - Frameshift Large_intestine COSM4991930 BAP1 c.103C>T p.L35F Substitution - Missense Skin COSM186813 NIPBL c.3659C>T p.A1220V Substitution - Missense Large_intestine COSM3618489 BRD9 c.864C>T p.S288S Substitution - coding silent Skin COSM5513819 ZMYM3 c.1433G>A p.R478Q Substitution - Missense Biliary_tract COSM1035250 BRD1 c.1213G>A p.E405K Substitution - Missense Large_intestine COSM217218 HAT1 c.717T>G p.S239R Substitution - Missense Liver COSM1180774 KDM5A c.3597delA p.G1200fs*9 Deletion - Frameshift Large_intestine COSM4761493 EP400 c.9173C>T p.T3058I Substitution - Missense Stomach COSM1047217 SFMBT1 c.1733A>C p.Y578S Substitution - Missense Endometrium COSM1627595 SFMBT2 c.1497delC p.T500fs*44 Deletion - Frameshift Liver COSM1610669 BPTF c.7760A>T p.K2587I Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3376317 BAZ2A c.4903C>T p.R1635W Substitution - Missense Pancreas COSM110820 BAP1 c.634_634delG p.E212fs*19 Deletion - Frameshift Eye COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4385501 PHF6 c.596C>G p.S199C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3048327 SP140_ENST00000392045 c.865C>A p.Q289K Substitution - Missense Large_intestine COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM255184 PHF6 c.673C>T p.R225* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3438381 ERCC6 c.2505G>A p.W835* Substitution - Nonsense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3376317 BAZ2A c.4903C>T p.R1635W Substitution - Missense Pancreas COSM289244 TDRKH c.442C>T p.R148C Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4506928 KDM1B c.733C>T p.P245S Substitution - Missense Skin COSM5948359 MSH6 c.110C>G p.A37G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1466712 HCFC1 c.96G>C p.G32G Substitution - coding silent Large_intestine COSM1605810 EP400 c.6224A>G p.E2075G Substitution - Missense Liver COSM242793 ACTB c.400G>A p.V134I Substitution - Missense Prostate COSM246568 PHIP c.5054A>C p.E1685A Substitution - Missense Prostate COSM220522 EP300 c.4399T>C p.Y1467H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5588781 RAI1 c.4679G>A p.R1560Q Substitution - Missense Skin COSM1015786 TET2 c.73T>C p.C25R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4633195 SFMBT2 c.2135C>A p.T712N Substitution - Missense Large_intestine COSM211627 TET2 c.4714C>T p.R1572W Substitution - Missense Biliary_tract COSM70170 CHD7 c.8686T>C p.S2896P Substitution - Missense Ovary COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1074186 SHPRH c.3859C>T p.R1287* Substitution - Nonsense Endometrium COSM4689698 HDAC7 c.2644C>T p.R882C Substitution - Missense Large_intestine COSM257380 MBD2 c.677G>A p.R226Q Substitution - Missense Large_intestine COSM3727108 SMYD3 c.143G>A p.R48K Substitution - Missense Skin COSM5719080 NCOA2 c.4384-2A>G p.? Unknown Skin COSM3644827 ATAD2 c.3019C>T p.R1007* Substitution - Nonsense Skin COSM3514742 RAI1 c.1834C>T p.L612L Substitution - coding silent Skin COSM3824337 PBRM1 c.3111C>T p.V1037V Substitution - coding silent Breast COSM5945829 ARID1A c.? p.E602* Substitution - Nonsense Pleura COSM4593941 L3MBTL2 c.697G>C p.A233P Substitution - Missense Upper_aerodigestive_tract COSM32481 VPS72 c.952A>G p.I318V Substitution - Missense Breast COSM26946 DOT1L c.2544+5G>T p.? Unknown Upper_aerodigestive_tract COSM1002 SMARCB1 c.118C>T p.R40* Substitution - Nonsense Soft_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM78991 KMT2D c.4507C>T p.Q1503* Substitution - Nonsense Ovary COSM72499 RSF1 c.4100A>G p.D1367G Substitution - Missense Ovary COSM87074 TET2 c.640_641insT p.S214fs*11 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM121965 STK31 c.135A>T p.V45V Substitution - coding silent Upper_aerodigestive_tract COSM133672 IDH2 c.516G>C p.R172S Substitution - Missense Liver COSM221070 KMT2D c.7994C>G p.S2665* Substitution - Nonsense Pancreas COSM159404 BPTF c.6448G>C p.A2150P Substitution - Missense Breast COSM159422 BRWD3 c.3403G>C p.E1135Q Substitution - Missense Breast COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Soft_tissue COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Central_nervous_system COSM181884 RBBP7 c.382C>T p.R128C Substitution - Missense Large_intestine COSM253278 PHF20 c.1981G>T p.E661* Substitution - Nonsense Ovary COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Central_nervous_system COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Central_nervous_system COSM253896 ZMYND8 c.2028G>A p.E676E Substitution - coding silent Urinary_tract COSM292453 SETD3 c.954C>T p.N318N Substitution - coding silent Large_intestine COSM312888 KMT2C c.12138A>T p.K4046N Substitution - Missense Soft_tissue COSM315435 SMARCA4 c.2687T>A p.V896E Substitution - Missense Lung COSM305992 EP300 c.4916T>C p.L1639P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM370937 CHD7 c.4608G>T p.K1536N Substitution - Missense Lung COSM373246 PRDM13 c.1554C>T p.I518I Substitution - coding silent Lung COSM391601 SUV420H1 c.2087_2088insA p.K697fs*8 Insertion - Frameshift Lung COSM447196 TET2 c.264T>C p.C88C Substitution - coding silent Breast COSM455666 EHMT1 c.2237T>G p.L746R Substitution - Missense Breast COSM473778 ASXL3 c.553G>A p.E185K Substitution - Missense Kidney COSM480379 PBRM1 c.1906T>C p.S636P Substitution - Missense Kidney COSM691761 HNF1A c.306C>A p.A102A Substitution - coding silent Lung COSM1049757 TET2 c.3045C>T p.S1015S Substitution - coding silent Endometrium COSM1030709 BRWD1 c.2526G>T p.E842D Substitution - Missense Endometrium COSM753633 TAF1L c.2054G>T p.R685L Substitution - Missense Lung COSM703463 CHD9 c.8227A>T p.K2743* Substitution - Nonsense Lung COSM896928 ASH1L c.3962G>A p.R1321Q Substitution - Missense Stomach COSM896951 ASH1L c.229G>T p.E77* Substitution - Nonsense Endometrium COSM1200969 CHD3 c.3421C>A p.L1141M Substitution - Missense Large_intestine COSM1267357 TAF1L c.351A>G p.E117E Substitution - coding silent Oesophagus COSM1176648 L3MBTL3 c.2286T>G p.I762M Substitution - Missense Endometrium COSM1225438 SFMBT2 c.1850G>A p.R617Q Substitution - Missense Skin COSM1316858 ZMYM3 c.1477A>T p.T493S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1393037 SIRT6 c.483C>T p.A161A Substitution - coding silent Large_intestine COSM1385425 BPTF c.3159G>T p.K1053N Substitution - Missense Large_intestine COSM1343129 RAD54L c.557G>A p.G186D Substitution - Missense Large_intestine COSM1351607 KMT2A c.2311_2312insC p.S774fs*12 Insertion - Frameshift Large_intestine COSM1351607 KMT2A c.2311_2312insC p.S774fs*12 Insertion - Frameshift Large_intestine COSM1520915 KAT2A c.2414G>A p.R805H Substitution - Missense Urinary_tract COSM1472589 SETDB1 c.2536G>T p.G846C Substitution - Missense Breast COSM1611513 CARM1 c.1449C>G p.P483P Substitution - coding silent Liver COSM1583401 SETDB1 c.1938C>T p.F646F Substitution - coding silent Endometrium COSM1627024 PRDM16 c.2177C>G p.P726R Substitution - Missense Liver COSM1620732 PRDM1 c.1515C>A p.P505P Substitution - coding silent Liver COSM1625903 KDM6A c.963G>A p.W321* Substitution - Nonsense Liver COSM1676668 CHD4 c.3250G>A p.D1084N Substitution - Missense Large_intestine COSM1670725 FXR1 c.1411G>T p.D471Y Substitution - Missense Large_intestine COSM1675221 ERCC6 c.2569C>T p.R857* Substitution - Nonsense Large_intestine COSM1675368 KAT6B c.4904C>T p.A1635V Substitution - Missense Large_intestine COSM1714068 DNMT3L c.304G>A p.G102R Substitution - Missense Skin COSM1737945 TET2 c.3809_3810insC p.C1271fs*29 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1734695 KMT2D c.12631G>A p.E4211K Substitution - Missense Pancreas COSM1936694 BAZ2A c.785T>C p.V262A Substitution - Missense Large_intestine COSM2166352 KAT5 c.573T>C p.T191T Substitution - coding silent Upper_aerodigestive_tract COSM2828731 SETD5_ENST00000402198 c.267A>T p.V89V Substitution - coding silent Upper_aerodigestive_tract COSM3300316 BAZ2B c.635G>A p.C212Y Substitution - Missense Large_intestine COSM3375227 TAF1L c.4123C>T p.R1375W Substitution - Missense Thyroid COSM3384358 ARID2 c.1715+5G>C p.? Unknown Pancreas COSM3408051 KDM5D c.919A>T p.S307C Substitution - Missense Central_nervous_system COSM3416864 ARID2 c.4068G>A p.P1356P Substitution - coding silent Large_intestine COSM3447389 PRDM11 c.154G>T p.D52Y Substitution - Missense Skin COSM3466322 PHC1 c.118C>T p.L40L Substitution - coding silent Skin COSM3450144 GLYATL1 c.586G>A p.E196K Substitution - Missense Stomach COSM3636505 KMT2C c.5744C>T p.S1915F Substitution - Missense Skin COSM3629174 PHF3 c.1034C>T p.S345F Substitution - Missense Skin COSM3631920 PHF14 c.1681C>T p.P561S Substitution - Missense Skin COSM3615191 PRDM9 c.353G>A p.G118E Substitution - Missense Skin COSM3592025 KAT2B c.1026C>T p.I342I Substitution - coding silent Skin COSM3656861 TAF1L c.1962A>G p.S654S Substitution - coding silent Skin COSM3655145 GTF3C4 c.2275C>T p.R759C Substitution - Missense Skin COSM3675146 CHD7 c.6169C>A p.R2057S Substitution - Missense Prostate COSM3714315 KDM3A c.30G>C p.P10P Substitution - coding silent Upper_aerodigestive_tract COSM3765375 TRRAP c.2878C>T p.R960W Substitution - Missense Central_nervous_system COSM3782695 HCFC2 c.690G>C p.M230I Substitution - Missense Prostate COSM3841923 BRWD1 c.3245G>C p.W1082S Substitution - Missense Breast COSM3905148 GTF3C4 c.1001G>T p.G334V Substitution - Missense Stomach COSM3911510 EYA2 c.664G>A p.E222K Substitution - Missense Skin COSM3894921 EPC2 c.661C>T p.R221* Substitution - Nonsense Skin COSM3957610 GLYR1 c.66G>C p.W22C Substitution - Missense Lung COSM4023060 ASH1L c.3022T>C p.S1008P Substitution - Missense Stomach COSM4035527 KAT5 c.1398C>T p.S466S Substitution - coding silent Stomach COSM4080154 PRMT1 c.988G>C p.D330H Substitution - Missense Stomach COSM4109783 SUV39H1 c.646G>A p.G216R Substitution - Missense Stomach COSM4097804 NCOA6 c.3549A>G p.Q1183Q Substitution - coding silent Stomach COSM4064162 NCOR1 c.2746G>A p.V916I Substitution - Missense Stomach COSM4055773 PYGO1 c.403C>T p.P135S Substitution - Missense Stomach COSM4129609 NCOR1 c.568C>T p.R190* Substitution - Nonsense Upper_aerodigestive_tract COSM4156876 HDAC6 c.1504G>T p.E502* Substitution - Nonsense Thyroid COSM4159920 C5orf35 c.625A>G p.K209E Substitution - Missense Thyroid COSM4170095 TET2 c.1379delC p.Q461fs*25 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4171255 BAP1 c.1116G>T p.Q372H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4564620 KMT2C c.13099_13100CC>TT p.P4367F Substitution - Missense Skin COSM4461152 MPHOSPH8 c.1194C>T p.L398L Substitution - coding silent Skin COSM4702506 KMT2C c.5346_5351delGCAGCA p.Q1786_Q1787delQQ Deletion - In frame Large_intestine COSM4716354 POGZ c.3377A>C p.D1126A Substitution - Missense Large_intestine COSM4725216 SETMAR c.4T>A p.F2I Substitution - Missense Large_intestine COSM4741194 WHSC1 c.289delA p.K97fs*9 Deletion - Frameshift Large_intestine COSM4677375 DHX30 c.2390G>A p.R797Q Substitution - Missense Skin COSM4613273 KDM2A c.2616delG p.G874fs*5 Deletion - Frameshift Large_intestine COSM4609928 PHIP c.1911C>A p.N637K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4770775 TRIM24 c.3055_3058delTCAG p.S1019fs*>31 Deletion - Frameshift Pleura COSM4754634 SUV39H1 c.174A>C p.E58D Substitution - Missense Stomach COSM4927869 ARID2 c.1086T>C p.C362C Substitution - coding silent Liver COSM4934931 ATAD2 c.817G>C p.D273H Substitution - Missense Liver COSM4901991 SETBP1 c.4141C>T p.L1381F Substitution - Missense Skin COSM4839643 JARID2 c.2873A>G p.N958S Substitution - Missense Cervix COSM4850108 POGZ c.367C>T p.Q123* Substitution - Nonsense Cervix COSM4957033 CHD4 c.1421A>G p.H474R Substitution - Missense Liver COSM4985747 DHX30 c.3461G>A p.R1154H Substitution - Missense Soft_tissue COSM4987392 KDM6B c.2257A>G p.T753A Substitution - Missense Soft_tissue COSM5019408 DNMT1 c.1584C>A p.I528I Substitution - coding silent Soft_tissue COSM5023729 PRMT10 c.705G>A p.K235K Substitution - coding silent Bone COSM5060295 WHSC1 c.2491G>A p.V831M Substitution - Missense Stomach COSM5042875 HDAC4 c.2558G>A p.S853N Substitution - Missense Liver COSM5347581 ARID2 c.5391_5392delAT p.L1797fs*6 Deletion - Frameshift Liver COSM5368779 NCOA2 c.4255G>A p.V1419M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5385780 SMYD4 c.2079A>C p.A693A Substitution - coding silent Skin COSM5370948 JMJD1C c.3835A>G p.N1279D Substitution - Missense Skin COSM5510434 JMJD1C c.289G>A p.G97S Substitution - Missense Biliary_tract COSM5504312 EZH1 c.1204+4C>T p.? Unknown Biliary_tract COSM5501364 BTAF1 c.807A>G p.P269P Substitution - coding silent Biliary_tract COSM5476734 TIF1 c.1980A>G p.R660R Substitution - coding silent Large_intestine COSM5486788 HCFC1 c.447C>T p.S149S Substitution - coding silent Large_intestine COSM5623107 PHC1 c.1794G>C p.V598V Substitution - coding silent Oesophagus COSM5629966 ATF7IP c.2231C>T p.S744L Substitution - Missense Oesophagus COSM5645483 TET2 c.3785G>T p.R1262L Substitution - Missense Oesophagus COSM5769948 SIRT3 c.24C>T p.A8A Substitution - coding silent Breast COSM5721443 EHMT1 c.344C>T p.S115L Substitution - Missense Skin COSM5729977 SND1 c.1856C>T p.S619F Substitution - Missense Skin COSM5576437 BAZ2A_ENST00000379441 c.567C>T p.S189S Substitution - coding silent Skin COSM5696992 CHD3 c.4737G>T p.Q1579H Substitution - Missense Soft_tissue COSM5713965 RNF17 c.1765G>A p.G589S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5749662 KAT6B c.5992T>C p.S1998P Substitution - Missense Genital_tract COSM5785156 ELP3 c.680G>C p.C227S Substitution - Missense Breast COSM5808170 TAF1L c.1223A>T p.E408V Substitution - Missense Liver COSM5896371 DOT1L c.947C>T p.T316I Substitution - Missense Skin COSM253322 ASXL1 c.? p.G966_G967del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM328501 IKZF1 c.161-31337_850+4069del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3738493 TET2 c.? p.P1271fs*29 Frameshift Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM1716178 EZH2 c.? p.K634E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM4167238 TET2 c.? p.L206R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM42025 TET2 c.? p.R1465* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM166348 DNMT3A c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716786 TET2 c.? p.Q635* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM43507 TET2 c.? p.Y1255* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM211539 EZH2 c.? p.Y731* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1717431 BAP1 c.? p.L35R Substitution - Missense Biliary_tract COSM269424 KDM2B c.285C>A p.A95A Substitution - coding silent Large_intestine COSM5005863 KAT6B c.3275A>G p.E1092G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3461597 KMT2D c.2543A>C p.D848A Substitution - Missense Skin COSM4489889 MYST3 c.3548C>T p.S1183F Substitution - Missense Skin COSM1075260 JARID2 c.3041C>T p.S1014F Substitution - Missense Endometrium COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM4714010 PHF3 c.3088G>T p.E1030* Substitution - Nonsense Large_intestine COSM1638291 PHF3 c.3767A>T p.D1256V Substitution - Missense Bone COSM3821461 SETBP1 c.335G>A p.R112Q Substitution - Missense Pancreas COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM4540573 SETD5_ENST00000402198 c.2865G>A p.E955E Substitution - coding silent Skin COSM1081848 PHIP c.4382A>C p.K1461T Substitution - Missense Endometrium COSM278970 ARID1A c.3667C>T p.R1223C Substitution - Missense Kidney COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Soft_tissue COSM3818884 NCOR1 c.5725C>T p.P1909S Substitution - Missense Breast COSM3937064 CREBBP c.1873C>T p.R625C Substitution - Missense Stomach COSM22604 MEN1 c.1177C>T p.Q393* Substitution - Nonsense Thymus COSM4625003 MECOM c.1173T>C p.S391S Substitution - coding silent Large_intestine COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Thyroid COSM5752645 SETD2 c.2660C>G p.S887* Substitution - Nonsense Breast COSM443954 NCOA3 c.3762A>G p.Q1254Q Substitution - coding silent Large_intestine COSM327312 PHF6 c.631A>G p.K211E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4035923 KDM2A c.3352A>G p.I1118V Substitution - Missense Stomach COSM271318 INOC1 c.3896G>A p.R1299Q Substitution - Missense Large_intestine COSM1083684 MLL5 c.3298C>T p.R1100* Substitution - Nonsense Breast COSM1441832 ARID1B c.5872G>T p.G1958W Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85128 NCOA2 c.4017A>G p.Q1339Q Substitution - coding silent Pancreas COSM4958514 SMARCA4 c.2676G>A p.K892K Substitution - coding silent Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3724470 ARID1A c.4555_4556insC p.Q1519fs*13 Insertion - Frameshift Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1049767 TET2 c.5538C>A p.V1846V Substitution - coding silent Endometrium COSM4590120 KDM4B c.2128A>G p.K710E Substitution - Missense Upper_aerodigestive_tract COSM3827759 NSD1 c.5932G>A p.E1978K Substitution - Missense Breast COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43520 TET2 c.1378_1378delT p.S460fs*26 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1426209 TET2 c.2639A>G p.H880R Substitution - Missense Large_intestine COSM3798180 HAT1 c.607C>G p.L203V Substitution - Missense Urinary_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4949780 BAZ2A_ENST00000379441 c.5053G>T p.G1685C Substitution - Missense Liver COSM5054960 SETD6 c.818A>G p.Y273C Substitution - Missense Stomach COSM5636697 RAI1 c.3277A>T p.K1093* Substitution - Nonsense Oesophagus COSM4904763 BRPF1 c.1412A>G p.E471G Substitution - Missense Skin COSM1082910 ACTL6B c.1156C>T p.R386C Substitution - Missense Endometrium COSM3294848 ZMYND8 c.2651A>G p.N884S Substitution - Missense Prostate COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM941747 BAZ2A_ENST00000379441 c.3427T>C p.L1143L Substitution - coding silent Endometrium COSM1085203 SND1 c.1982A>G p.Y661C Substitution - Missense Endometrium COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM356281 EHMT1 c.2297C>T p.A766V Substitution - Missense Lung COSM4956297 ZMYM1 c.1022C>T p.T341M Substitution - Missense Liver COSM43417 TET2 c.2746C>T p.Q916* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM328125 PBRM1 c.1479C>T p.I493I Substitution - coding silent Pancreas COSM4385435 ATRX c.1057A>T p.I353F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2178774 TTF2 c.51C>T p.T17T Substitution - coding silent Large_intestine COSM4659180 ACTR8 c.215C>A p.P72H Substitution - Missense Large_intestine COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4607943 EHMT2 c.338C>A p.T113K Substitution - Missense Adrenal_gland COSM110770 TET2 c.5594C>G p.A1865G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1756657 ZMYM3 c.3297C>T p.I1099I Substitution - coding silent Urinary_tract COSM3827747 NSD1 c.2049G>T p.K683N Substitution - Missense Breast COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4942496 SRCAP c.2140A>T p.K714* Substitution - Nonsense Liver COSM1645086 TRRAP c.6952G>T p.A2318S Substitution - Missense Salivary_gland COSM5818110 EP300 c.3052G>T p.E1018* Substitution - Nonsense Liver COSM3808471 KMT2A c.1325G>A p.R442Q Substitution - Missense Breast COSM1677487 EP400 c.2483G>A p.S828N Substitution - Missense Large_intestine COSM4591233 NCOR1 c.534G>C p.K178N Substitution - Missense Upper_aerodigestive_tract COSM1312867 KMT2C c.9638C>T p.S3213L Substitution - Missense Thyroid COSM4717489 PRDM16 c.1893C>T p.S631S Substitution - coding silent Large_intestine COSM5374382 SIRT4 c.840C>T p.L280L Substitution - coding silent Skin COSM1017602 SP140_ENST00000392045 c.1080C>A p.T360T Substitution - coding silent Endometrium COSM46445 HNF1A c.629C>T p.S210F Substitution - Missense Liver COSM5579539 SETBP1 c.1474G>A p.G492R Substitution - Missense Skin COSM4719998 RAD54L c.1907G>A p.S636N Substitution - Missense Large_intestine COSM437198 BPTF c.5295C>A p.I1765I Substitution - coding silent Breast COSM1131311 INTS12 c.785T>C p.F262S Substitution - Missense Prostate COSM4031021 ARID1A c.5202T>C p.Y1734Y Substitution - coding silent Stomach COSM4120739 BRPF1 c.2772G>T p.Q924H Substitution - Missense Stomach COSM5224678 BRD4 c.1715delA p.K572fs*12 Deletion - Frameshift Breast COSM5191946 UHRF2 c.92G>A p.R31Q Substitution - Missense Large_intestine COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4411268 PBRM1 c.3920delA p.K1307fs*6 Deletion - Frameshift Kidney COSM254632 CREBBP c.3689A>G p.Y1230C Substitution - Missense Urinary_tract COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM94276 KDM2A c.2501G>A p.R834H Substitution - Missense Ovary COSM3432895 SET c.509C>T p.S170L Substitution - Missense Stomach COSM4435124 EP300 c.4505C>G p.P1502R Substitution - Missense Oesophagus COSM1679612 RAI1 c.2854G>T p.G952C Substitution - Missense Large_intestine COSM3728132 KDM6B c.4174G>T p.E1392* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1472437 TRIM33 c.2923T>C p.C975R Substitution - Missense Breast COSM5939782 CHD7 c.530C>T p.P177L Substitution - Missense Skin COSM5802745 TDRD1 c.5G>A p.S2N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM77601 DNMT3B c.1209C>G p.C403W Substitution - Missense Ovary COSM3416435 PRDM4 c.1616C>A p.P539H Substitution - Missense Large_intestine COSM4913637 ZBTB38 c.957C>T p.S319S Substitution - coding silent Liver COSM1560693 ARID1A c.3784C>T p.R1262C Substitution - Missense Skin COSM4060716 CREBBP c.1893C>A p.A631A Substitution - coding silent Stomach COSM27395 HNF1A c.502C>T p.R168C Substitution - Missense Endometrium COSM5780602 KMT2A c.4909G>A p.E1637K Substitution - Missense Salivary_gland COSM4685909 FXR1 c.198+2T>C p.? Unknown Large_intestine COSM3439742 SIRT1 c.987C>T p.F329F Substitution - coding silent Skin COSM5916620 RAI1 c.4058C>T p.P1353L Substitution - Missense Skin COSM4837040 TCF20 c.3048G>C p.L1016F Substitution - Missense Cervix COSM3376252 ARID2 c.588T>C p.D196D Substitution - coding silent Pancreas COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4411250 DPF1 c.739A>T p.I247F Substitution - Missense Kidney COSM1493625 MYST1 c.879G>A p.R293R Substitution - coding silent Kidney COSM1228746 TCF20 c.5042C>T p.A1681V Substitution - Missense Large_intestine COSM3757070 KDM4B c.1080A>G p.A360A Substitution - coding silent Large_intestine COSM3578969 SP100 c.2289C>T p.F763F Substitution - coding silent Skin COSM2879337 CXXC1 c.289C>T p.R97W Substitution - Missense Large_intestine COSM284225 PRDM9 c.2338G>T p.E780* Substitution - Nonsense Large_intestine COSM108141 CHD6 c.4419G>A p.K1473K Substitution - coding silent Skin COSM5946034 KDM6A c.3422_3423insC p.R1142fs*9 Insertion - Frameshift Urinary_tract COSM5014335 SMARCC1 c.2320+1G>T p.? Unknown Kidney COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2952796 TET2 c.3985C>A p.L1329M Substitution - Missense Large_intestine COSM1108241 TAF1L c.2218G>A p.E740K Substitution - Missense Endometrium COSM3511213 PRMT7 c.1452C>T p.S484S Substitution - coding silent Skin COSM4640174 DNMT1 c.529A>C p.K177Q Substitution - Missense Large_intestine COSM4774720 ARID4A c.3212-7A>T p.? Unknown Stomach COSM1097 SMARCB1 c.?del? p.?fs Deletion - Frameshift Soft_tissue COSM1515705 ARID4A c.2851C>G p.L951V Substitution - Missense Urinary_tract COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3859988 ARID1B c.4687C>T p.Q1563* Substitution - Nonsense Stomach COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2176193 SETD1B c.1877G>A p.S626N Substitution - Missense Large_intestine COSM4144478 MGMT c.114G>T p.T38T Substitution - coding silent Thyroid COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM41293 IDH1 c.? p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM5930312 PRDM4 c.1300C>T p.P434S Substitution - Missense Skin COSM96385 ASXL1 c.2331_2332insGGAG p.Q778fs*10 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM252547 INOC1 c.3995C>T p.S1332L Substitution - Missense Ovary COSM5797555 SETD5_ENST00000402198 c.4305C>G p.V1435V Substitution - coding silent Breast COSM3528394 CARM1 c.762C>T p.I254I Substitution - coding silent Skin COSM82286 PHF20L1 c.279T>C p.V93V Substitution - coding silent Ovary COSM1726890 ASXL3 c.1483G>A p.A495T Substitution - Missense Liver COSM1225370 SETD5_ENST00000402198 c.3389T>G p.F1130C Substitution - Missense Large_intestine COSM5412843 SMC1A c.1534C>T p.P512S Substitution - Missense Skin COSM5374677 EP400 c.9090T>C p.A3030A Substitution - coding silent Skin COSM758299 BRWD3 c.772G>T p.A258S Substitution - Missense Lung COSM5738894 ERCC6 c.2626A>G p.R876G Substitution - Missense Small_intestine COSM1341426 ARID1A c.5542delG p.D1850fs*33 Deletion - Frameshift Breast COSM4064164 NCOR1 c.1903G>A p.V635I Substitution - Missense Stomach COSM688158 ALKBH3 c.564G>A p.V188V Substitution - coding silent Lung COSM1190035 SIRT2 c.1156G>T p.E386* Substitution - Nonsense Lung COSM1618334 PRDM5 c.1041delC p.Y348fs*21 Deletion - Frameshift Liver COSM221192 EPC2 c.1379T>C p.V460A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM42055 TET2 c.4076G>A p.R1359H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2139738 IDH2 c.528C>T p.G176G Substitution - coding silent Large_intestine COSM5651302 CREBBP c.4451T>G p.F1484C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3764422 KMT2D c.14671G>T p.E4891* Substitution - Nonsense Central_nervous_system COSM3888577 GLYR1 c.521C>T p.P174L Substitution - Missense Skin COSM3778261 KMT2C c.1851A>G p.K617K Substitution - coding silent Urinary_tract COSM144617 KMT2D c.1940_1940delC p.P647fs*38 Deletion - Frameshift Stomach COSM1955350 EPC1 c.106A>C p.R36R Substitution - coding silent Upper_aerodigestive_tract COSM5510943 BAHCC1 c.6824C>T p.A2275V Substitution - Missense Biliary_tract COSM5126807 CHD2 c.2842C>T p.R948W Substitution - Missense Large_intestine COSM5477717 PHRF1 c.1175G>A p.R392Q Substitution - Missense Large_intestine COSM5053857 CHD8 c.2748C>T p.G916G Substitution - coding silent Stomach COSM4014444 ERCC6 c.2838G>T p.E946D Substitution - Missense Stomach COSM353978 ASXL3 c.1678C>T p.P560S Substitution - Missense Lung COSM306040 AICDA c.383G>A p.R128Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM972484 CTCF c.1061C>T p.S354F Substitution - Missense Endometrium COSM940028 KMT2D c.8234G>A p.G2745D Substitution - Missense Endometrium COSM4625770 RING1 c.1065C>T p.G355G Substitution - coding silent Large_intestine COSM1579628 EP400 c.4447+7T>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4694946 KDM3B c.4504T>C p.F1502L Substitution - Missense Large_intestine COSM1681679 CHD6 c.7381C>T p.P2461S Substitution - Missense Skin COSM1682350 BRD1 c.451G>A p.D151N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5572299 TDRD6 c.3256T>C p.Y1086H Substitution - Missense Prostate COSM963069 PYGO1 c.1213C>T p.R405C Substitution - Missense Endometrium COSM1132511 TAF1L c.2605G>A p.A869T Substitution - Missense Breast COSM4700969 MBD2 c.471delC p.G158fs*7 Deletion - Frameshift Large_intestine COSM238159 SFMBT1 c.957A>T p.A319A Substitution - coding silent Prostate COSM985409 CBX4 c.916G>A p.A306T Substitution - Missense Endometrium COSM4465156 MGMT c.43C>T p.P15S Substitution - Missense Skin COSM4147936 MTA1 c.1834G>A p.A612T Substitution - Missense Thyroid COSM445525 RUVBL1 c.1272C>T p.S424S Substitution - coding silent Breast COSM4383966 TET2 c.5447T>G p.L1816* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4847113 ACTR6 c.1136G>A p.R379K Substitution - Missense Cervix COSM1228834 TDRD6 c.203C>T p.S68L Substitution - Missense Large_intestine COSM5424819 BRD7 c.190A>G p.K64E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM399362 AP001011.3_ENST00000320876 c.563G>A p.G188E Substitution - Missense Lung COSM5025241 ZMYM6 c.3262G>A p.E1088K Substitution - Missense Breast COSM53168 TET2 c.? p.P1629fs*31 Frameshift Haematopoietic_and_lymphoid_tissue COSM5060001 BRPF1 c.3615C>T p.R1205R Substitution - coding silent Stomach COSM935975 HNF1A c.1501G>A p.A501T Substitution - Missense Endometrium COSM955460 BAZ1A c.2941G>T p.D981Y Substitution - Missense Endometrium COSM4825539 FMR1 c.1666C>T p.H556Y Substitution - Missense Cervix COSM4004759 PRDM2 c.3225A>C p.P1075P Substitution - coding silent Ovary COSM4643150 KMT2C c.7146A>G p.R2382R Substitution - coding silent Large_intestine COSM1183563 ARID1B c.3349A>C p.S1117R Substitution - Missense Large_intestine COSM110492 SMARCA4 c.2300C>T p.S767F Substitution - Missense Skin COSM5882538 UBR7 c.961-1G>A p.? Unknown Large_intestine COSM5564106 ARID1B c.3170G>A p.R1057Q Substitution - Missense Prostate COSM1347627 EPC1 c.829G>A p.D277N Substitution - Missense Large_intestine COSM4396417 MGMT c.132G>A p.V44V Substitution - coding silent Skin COSM4962342 SIRT1 c.1523C>T p.S508L Substitution - Missense Pancreas COSM3060119 MBD4 c.105-4C>T p.? Unknown Skin COSM1726277 SETDB1 c.2609A>G p.Y870C Substitution - Missense Liver COSM4432507 CHD3 c.1290G>T p.W430C Substitution - Missense Oesophagus COSM5964996 CHD8 c.1702G>C p.E568Q Substitution - Missense Breast COSM4592311 JARID2 c.2084C>G p.A695G Substitution - Missense Upper_aerodigestive_tract COSM1071546 CHD1 c.4146G>T p.K1382N Substitution - Missense Endometrium COSM5725715 ACTB c.189C>T p.G63G Substitution - coding silent Skin COSM414733 MTF2 c.331G>C p.E111Q Substitution - Missense Urinary_tract COSM1640116 ARID4A c.1259delA p.D423fs*2 Deletion - Frameshift Large_intestine COSM1084041 PHF14 c.806A>C p.K269T Substitution - Missense Endometrium COSM5927495 CHD7 c.3008C>T p.S1003F Substitution - Missense Skin COSM4702911 MORF4L1 c.811C>T p.Q271* Substitution - Nonsense Large_intestine COSM1757178 MLL5 c.4486C>A p.Q1496K Substitution - Missense Urinary_tract COSM3501038 RTF1 c.72C>T p.A24A Substitution - coding silent Skin COSM1663785 PYGO1 c.25C>T p.P9S Substitution - Missense Kidney COSM1719608 MYST1 c.1143C>T p.S381S Substitution - coding silent Skin COSM2976812 PHF23 c.366C>T p.P122P Substitution - coding silent Large_intestine COSM1180918 ASXL1 c.1927delG p.G645fs*58 Deletion - Frameshift Large_intestine COSM4039427 HNF1A c.1335T>G p.S445R Substitution - Missense Stomach COSM1622671 HDAC9 c.2636G>A p.G879D Substitution - Missense Liver COSM4031537 PRDM16 c.1989C>T p.A663A Substitution - coding silent Stomach COSM4883814 KMT2A c.4592T>C p.V1531A Substitution - Missense Upper_aerodigestive_tract COSM341532 CHD7 c.5124G>T p.Q1708H Substitution - Missense Lung COSM4170752 CREBBP c.5040_5042delCTT p.L1681delL Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM1087499 KMT2C c.14549C>T p.S4850L Substitution - Missense Endometrium COSM5015998 SETD2 c.1842delT p.F614fs*4 Deletion - Frameshift Kidney COSM4633918 ARID4A c.2257C>T p.Q753* Substitution - Nonsense Large_intestine COSM1416626 TCF20 c.1707delC p.R570fs*37 Deletion - Frameshift Large_intestine COSM5753450 BMI1 c.930T>G p.N310K Substitution - Missense Large_intestine COSM927030 PRDM11 c.1348C>T p.R450C Substitution - Missense Skin COSM26722 MSH6 c.2815C>T p.Q939* Substitution - Nonsense Skin COSM315688 SUV420H1 c.1891C>G p.P631A Substitution - Missense Lung COSM3738475 TET2 c.? p.Q705* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM2152842 BRD9 c.1311C>G p.D437E Substitution - Missense Central_nervous_system COSM1583058 DNMT3A c.1339_1339delG p.A447fs*204 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1600688 PRDM2 c.1794A>G p.I598M Substitution - Missense Liver COSM1602331 MEAF6 c.224A>G p.N75S Substitution - Missense Liver COSM1377017 GTF3C1 c.5963G>A p.R1988H Substitution - Missense Stomach COSM106761 ARID2 c.430C>T p.Q144* Substitution - Nonsense Breast COSM4022227 POGZ c.3117C>T p.R1039R Substitution - coding silent Stomach COSM27529 MSH6 c.? p.T1189T Substitution - coding silent Central_nervous_system COSM4489147 CHD9 c.3439C>T p.P1147S Substitution - Missense Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1228435 TAF3 c.1274G>T p.R425I Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1616517 TCF20 c.5454A>G p.E1818E Substitution - coding silent Liver COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5607870 ARID1B c.2456C>T p.P819L Substitution - Missense Skin COSM1583097 DNMT3A c.2147T>A p.V716D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM285876 TP53BP1 c.1071-1G>T p.? Unknown Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1187942 ERCC6 c.1970C>T p.A657V Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4941810 SETD1B c.1359C>T p.S453S Substitution - coding silent Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM312892 KMT2C c.7807A>G p.R2603G Substitution - Missense Soft_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4101923 AIRE c.1301G>A p.C434Y Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3394837 ACTB c.978G>A p.K326K Substitution - coding silent Pancreas COSM5607832 ARID1A c.2586C>T p.S862S Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1616598 HDAC10 c.1365G>T p.E455D Substitution - Missense Liver COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4755336 ORC1 c.1006C>T p.L336F Substitution - Missense Stomach COSM3724474 ARID1A c.6694C>T p.R2232W Substitution - Missense Endometrium COSM5925784 CHD8 c.5116C>T p.Q1706* Substitution - Nonsense Skin COSM13869 ERCC6 c.3355_3356GA>CT p.E1119L Substitution - Missense Breast COSM1159120 SETBP1 c.3973_3981delAGTTCTTAT p.S1325_Y1327delSSY Deletion - In frame Pancreas COSM220522 EP300 c.4399T>C p.Y1467H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM315105 SETBP1 c.4244G>T p.C1415F Substitution - Missense Lung COSM1381126 NCOR1 c.4195A>G p.I1399V Substitution - Missense Large_intestine COSM685463 SFMBT2 c.1637G>A p.G546E Substitution - Missense Lung COSM5621066 JMJD1C c.5000A>G p.Y1667C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5806939 KMT2C c.10855A>G p.T3619A Substitution - Missense Liver COSM1447554 ING3 c.542A>C p.K181T Substitution - Missense Large_intestine COSM1479275 NCOR1 c.1573_1574insA p.T525fs*11 Insertion - Frameshift Breast COSM4150715 YY1 c.117A>G p.T39T Substitution - coding silent Kidney COSM1107166 EHMT1 c.241G>A p.D81N Substitution - Missense Endometrium COSM4746111 FTO c.1247C>T p.A416V Substitution - Missense Central_nervous_system COSM4610704 EP300 c.4606G>A p.E1536K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM433782 BAHD1 c.103G>A p.E35K Substitution - Missense Breast COSM354919 BRDT c.899A>G p.D300G Substitution - Missense Lung COSM4818078 PHF15 c.2211G>C p.E737D Substitution - Missense Cervix COSM2720055 CHD7 c.3696C>T p.G1232G Substitution - coding silent Stomach COSM328031 PRDM16 c.1134C>G p.S378S Substitution - coding silent Pancreas COSM5596081 TCF20 c.5476C>T p.P1826S Substitution - Missense Skin COSM3777927 ZCWPW1 c.683G>A p.R228Q Substitution - Missense Urinary_tract COSM3514774 RAI1 c.4519G>T p.A1507S Substitution - Missense Skin COSM132968 ASXL1 c.? p.E635fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM2159029 SIRT1 c.1147G>A p.V383I Substitution - Missense Large_intestine COSM699048 UBR7 c.1116C>G p.L372L Substitution - coding silent Lung COSM1100779 CHD7 c.803C>T p.S268F Substitution - Missense Endometrium COSM451292 RING1 c.1004A>G p.E335G Substitution - Missense Upper_aerodigestive_tract COSM1363346 MBD6 c.2193_2194insC p.Q734fs*4 Insertion - Frameshift Large_intestine COSM1333113 TTF2 c.1593C>T p.H531H Substitution - coding silent Large_intestine COSM24923 HNF1A c.779C>T p.T260M Substitution - Missense Liver COSM25822 MEN1 c.631G>T p.V211F Substitution - Missense Parathyroid COSM12931 TAF1L c.2382A>C p.E794D Substitution - Missense Lung COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM36205 ASXL1 c.3306G>T p.E1102D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM29382 SMARCB1 c.1143delG p.A382fs*5 Deletion - Frameshift Central_nervous_system COSM43428 TET2 c.238C>T p.Q80* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM43436 TET2 c.973C>T p.Q325* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM46426 HNF1A c.711T>G p.N237K Substitution - Missense Liver COSM76637 SUV420H1 c.2283G>T p.K761N Substitution - Missense Ovary COSM100067 TET2 c.783_783delC p.C262fs*31 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM124345 MBD1 c.863C>T p.P288L Substitution - Missense Upper_aerodigestive_tract COSM133582 ASXL1 c.3416C>A p.T1139K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM142953 ZBTB4 c.620_621CC>TT p.P207L Substitution - Missense Skin COSM144609 KMT2D c.6418C>T p.R2140* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Upper_aerodigestive_tract COSM162838 NCOA3 c.2178G>T p.Q726H Substitution - Missense Breast COSM181360 PRDM2 c.5055G>A p.A1685A Substitution - coding silent Stomach COSM224172 POGZ c.338C>T p.P113L Substitution - Missense Skin COSM227366 IDH2 c.415A>T p.I139F Substitution - Missense Skin COSM249465 SETD2 c.3409-2A>G p.? Unknown Kidney COSM247699 TAF1L c.4186C>T p.R1396C Substitution - Missense Prostate COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Prostate COSM269879 PHIP c.3288T>C p.P1096P Substitution - coding silent Breast COSM282813 KMT2A c.5927G>A p.R1976Q Substitution - Missense Large_intestine COSM298997 HDAC4 c.705C>T p.A235A Substitution - coding silent Large_intestine COSM314120 PHF2 c.2683delA p.R896fs*64 Deletion - Frameshift Lung COSM307642 ATF7IP c.713A>G p.D238G Substitution - Missense Kidney COSM343599 EPC2 c.788A>G p.H263R Substitution - Missense Lung COSM374287 SMARCA4 c.3745G>T p.A1249S Substitution - Missense Lung COSM384618 CREBBP c.424G>C p.G142R Substitution - Missense Lung COSM424705 TDRD5 c.2437G>C p.E813Q Substitution - Missense Breast COSM419792 ZBTB38 c.1017T>G p.P339P Substitution - coding silent Urinary_tract COSM419310 C20orf20 c.243G>C p.L81L Substitution - coding silent Urinary_tract COSM416981 BRD7 c.506C>G p.S169C Substitution - Missense Urinary_tract COSM460409 NCOR1 c.2034C>T p.L678L Substitution - coding silent Cervix COSM979879 HDAC5 c.420G>A p.E140E Substitution - coding silent Endometrium COSM480426 PBRM1 c.898A>G p.R300G Substitution - Missense Kidney COSM565277 GATAD2A c.786G>A p.S262S Substitution - coding silent Stomach COSM916612 SUV39H2 c.572C>T p.S191L Substitution - Missense Skin COSM693643 KMT2D c.1113-2A>T p.? Unknown Oesophagus COSM913231 BRDT c.959G>T p.G320V Substitution - Missense Endometrium COSM907726 ARID1A c.4336C>T p.R1446* Substitution - Nonsense Stomach COSM900899 RNF2 c.11C>T p.A4V Substitution - Missense Endometrium COSM896435 GATAD2B c.791G>A p.R264H Substitution - Missense Endometrium COSM996181 SIRT2 c.557C>T p.A186V Substitution - Missense Endometrium COSM1034767 TCF20 c.2940G>A p.P980P Substitution - coding silent Endometrium COSM1075359 ARID1B c.5298C>T p.F1766F Substitution - coding silent Skin COSM971410 CHD9 c.1080C>A p.N360K Substitution - Missense Endometrium COSM1087033 EZH2 c.2233G>A p.E745K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1088808 CBX3 c.546T>A p.A182A Substitution - coding silent Endometrium COSM1207955 GATAD2B c.982A>T p.T328S Substitution - Missense Large_intestine COSM1205377 EP400 c.8456C>T p.P2819L Substitution - Missense Large_intestine COSM1257665 MGA c.4563C>A p.L1521L Substitution - coding silent Oesophagus COSM1180098 KMT2C c.1005T>A p.P335P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1177130 TDRD1 c.3404-1G>A p.? Unknown Endometrium COSM1189780 UHRF1 c.412G>T p.D138Y Substitution - Missense Lung COSM1312555 MLL5 c.4099C>G p.Q1367E Substitution - Missense Urinary_tract COSM1283531 ASH1L c.971A>G p.K324R Substitution - Missense Autonomic_ganglia COSM1285322 HCFC2 c.1955G>A p.R652K Substitution - Missense Autonomic_ganglia COSM1295051 POGZ c.3005G>A p.R1002H Substitution - Missense Urinary_tract COSM1302078 SETD6 c.637G>C p.E213Q Substitution - Missense Urinary_tract COSM1390291 SMARCA4 c.4887T>C p.D1629D Substitution - coding silent Soft_tissue COSM1381139 NCOR1 c.963delA p.V322fs*4 Deletion - Frameshift Large_intestine COSM1413972 SETD4 c.1288G>A p.E430K Substitution - Missense Large_intestine COSM1449839 HDAC9 c.1791G>A p.A597A Substitution - coding silent Large_intestine COSM1443800 PHF1 c.10delC p.R6fs*2 Deletion - Frameshift Prostate COSM1363776 CHD4 c.417G>T p.E139D Substitution - Missense Soft_tissue COSM1341430 ARID1A c.6415delC p.F2141fs*59 Deletion - Frameshift Endometrium COSM1638979 RSF1 c.1158delA p.K386fs*6 Deletion - Frameshift Large_intestine COSM1678015 ARID4A c.3060A>C p.K1020N Substitution - Missense Large_intestine COSM1681681 CHD6 c.4105G>T p.E1369* Substitution - Nonsense Large_intestine COSM1721156 BPTF c.6666_6668delCAC p.T2227delT Deletion - In frame Skin COSM1700823 KDM4C c.2767C>T p.P923S Substitution - Missense Skin COSM1703303 SIRT3 c.292G>A p.G98R Substitution - Missense Skin COSM1719479 MECOM c.2550C>T p.F850F Substitution - coding silent Skin COSM1662787 KMT2C c.12914C>G p.P4305R Substitution - Missense Kidney COSM1717560 BRWD3 c.974C>G p.S325C Substitution - Missense Ovary COSM1752704 KDM3A c.469C>T p.R157* Substitution - Nonsense Urinary_tract COSM1735405 BAHCC1 c.3118_3119insG p.E1041fs*39 Insertion - Frameshift Pancreas COSM2805724 SIRT7 c.27C>T p.S9S Substitution - coding silent Large_intestine COSM2848389 GABRG1 c.821C>T p.T274I Substitution - Missense Large_intestine COSM2848429 GABRG1 c.11delT p.L4fs*1 Deletion - Frameshift Large_intestine COSM2952825 TET2 c.5841A>C p.K1947N Substitution - Missense Large_intestine COSM2961758 MYST3 c.472G>A p.G158S Substitution - Missense Large_intestine COSM3140025 BRD9 c.1266C>T p.D422D Substitution - coding silent Large_intestine COSM3349897 PHF1 c.674A>G p.Y225C Substitution - Missense Large_intestine COSM3361783 GLYR1 c.1659C>G p.H553Q Substitution - Missense Kidney COSM3374386 PHIP c.2095C>T p.R699W Substitution - Missense Thyroid COSM3402318 CREBBP c.4039C>T p.R1347W Substitution - Missense Central_nervous_system COSM3504375 MORF4L1 c.660C>T p.L220L Substitution - coding silent Skin COSM3496560 ARID4A c.799G>A p.D267N Substitution - Missense Skin COSM3501117 MGA c.8961C>T p.L2987L Substitution - coding silent Skin COSM3454099 EED c.674T>C p.L225P Substitution - Missense Skin COSM3630733 ZCWPW1 c.1230G>A p.E410E Substitution - coding silent Skin COSM3559636 HCFC1 c.2099C>T p.T700I Substitution - Missense Skin COSM3531065 GATAD2A c.266C>T p.S89L Substitution - Missense Skin COSM3656090 EHMT1 c.2455G>A p.G819S Substitution - Missense Skin COSM3781259 SND1 c.93C>T p.C31C Substitution - coding silent Pancreas COSM3817824 SRCAP c.5839A>C p.T1947P Substitution - Missense Breast COSM3799906 BRWD1 c.989C>T p.S330F Substitution - Missense Urinary_tract COSM3807277 ERCC6 c.4193A>C p.H1398P Substitution - Missense Breast COSM3859826 JARID2 c.1349C>T p.A450V Substitution - Missense Stomach COSM3934122 ASH1L c.6722C>T p.A2241V Substitution - Missense Biliary_tract COSM3831279 ZCWPW1 c.55T>G p.F19V Substitution - Missense Breast COSM3925327 MYST3 c.734C>T p.S245F Substitution - Missense Skin COSM3873185 PHF1 c.111G>A p.V37V Substitution - coding silent Stomach COSM3952564 EHMT1 c.1636G>A p.D546N Substitution - Missense Lung COSM3999533 TP53BP1 c.177+7G>A p.? Unknown Oesophagus COSM4107973 HCFC1 c.3535G>A p.E1179K Substitution - Missense Stomach COSM4102328 PRMT2 c.1259C>G p.T420R Substitution - Missense Stomach COSM4122219 PHF17 c.625T>C p.C209R Substitution - Missense Stomach COSM4072253 SETBP1 c.4005G>T p.M1335I Substitution - Missense Stomach COSM4070280 KDM6B c.339T>C p.L113L Substitution - coding silent Stomach COSM4061903 CTCF c.1016G>A p.R339Q Substitution - Missense Stomach COSM4064145 NCOR1 c.6190G>A p.A2064T Substitution - Missense Stomach COSM4129608 NCOR1 c.571G>A p.E191K Substitution - Missense Upper_aerodigestive_tract COSM4146003 MTA2 c.1916A>C p.K639T Substitution - Missense Thyroid COSM4161255 TDRD6 c.599T>G p.V200G Substitution - Missense Upper_aerodigestive_tract COSM4169780 ASXL1 c.2883_2884delTG p.V962fs*7 Deletion - Frameshift Biliary_tract COSM4604106 PRDM11 c.1147A>G p.M383V Substitution - Missense Upper_aerodigestive_tract COSM4593308 CREBBP c.6682C>G p.H2228D Substitution - Missense Upper_aerodigestive_tract COSM4591270 KMT2C c.2512G>A p.G838S Substitution - Missense Upper_aerodigestive_tract COSM4464994 KDM1B c.1361C>T p.P454L Substitution - Missense Skin COSM4467040 RSF1 c.1467C>T p.S489S Substitution - coding silent Skin COSM4771425 PBRM1 c.2155C>T p.Q719* Substitution - Nonsense Kidney COSM4720058 RAI1 c.2005G>A p.D669N Substitution - Missense Large_intestine COSM4694934 KDM3A c.1995C>T p.C665C Substitution - coding silent Large_intestine COSM4694949 KDM4A c.283C>T p.R95* Substitution - Nonsense Large_intestine COSM4689964 HELLS c.1224delG p.S410fs*35 Deletion - Frameshift Large_intestine COSM4665230 BAZ2A_ENST00000379441 c.298T>C p.S100P Substitution - Missense Large_intestine COSM4637317 MTA1 c.689G>A p.S230N Substitution - Missense Large_intestine COSM4646570 BAHCC1 c.4917G>A p.R1639R Substitution - coding silent Large_intestine COSM4776295 MBD6 c.150C>A p.T50T Substitution - coding silent Soft_tissue COSM4749436 ZBTB4 c.119A>G p.K40R Substitution - Missense Stomach COSM4804013 LBR c.550G>T p.E184* Substitution - Nonsense Liver COSM4806128 PHC2 c.1798A>T p.K600* Substitution - Nonsense Liver COSM4929032 PHF8 c.410T>G p.L137R Substitution - Missense Liver COSM4832665 BAG6 c.2114C>T p.S705F Substitution - Missense Cervix COSM4838065 L3MBTL3 c.1114C>A p.R372R Substitution - coding silent Cervix COSM4876608 SIRT5 c.411C>A p.V137V Substitution - coding silent Prostate COSM4951544 ZBTB4 c.2653G>T p.E885* Substitution - Nonsense Liver COSM4967970 ARID1A c.5653G>T p.A1885S Substitution - Missense Adrenal_gland COSM4992830 TIF1 c.1492C>T p.P498S Substitution - Missense Skin COSM5004404 TRIM66 c.1575C>T p.L525L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4975355 MBD5 c.2701C>A p.P901T Substitution - Missense Oesophagus COSM5013223 BPTF c.8302G>A p.G2768R Substitution - Missense Kidney COSM5007377 CDYL2 c.281C>T p.S94L Substitution - Missense Skin COSM5086782 METTL21D c.538A>G p.K180E Substitution - Missense Breast COSM5347129 ARID1A c.1762C>T p.Q588* Substitution - Nonsense Skin COSM5345618 CHD7 c.6453C>T p.V2151V Substitution - coding silent Large_intestine COSM5412316 HCFC1 c.4134C>T p.T1378T Substitution - coding silent Skin COSM5513795 HDAC6 c.2967A>G p.T989T Substitution - coding silent Biliary_tract COSM5470501 SRCAP c.773G>A p.S258N Substitution - Missense Large_intestine COSM5486726 BRD3 c.1780C>T p.R594W Substitution - Missense Large_intestine COSM5459336 ATAD2 c.568G>A p.D190N Substitution - Missense Large_intestine COSM5424675 DNMT3A c.2636A>G p.N879S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5756218 FXR1 c.1787G>A p.R596H Substitution - Missense Large_intestine COSM5736505 SETD5_ENST00000402198 c.2908G>A p.V970M Substitution - Missense Small_intestine COSM5581290 HDAC9 c.2630G>A p.W877* Substitution - Nonsense Skin COSM5700899 TDRD6 c.2871A>C p.A957A Substitution - coding silent Soft_tissue COSM5659472 KMT2D c.6863C>T p.P2288L Substitution - Missense Soft_tissue COSM5709783 PRDM1 c.363_393del31 p.W122fs*13 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5949992 CREBBP c.1792C>T p.Q598* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5910602 CHD7 c.1292C>T p.P431L Substitution - Missense Skin COSM5967274 KMT2D c.5527_5542del16 p.L1843fs*26 Deletion - Frameshift Salivary_gland COSM5985942 CREBBP c.7257G>A p.A2419A Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5996129 NIPBL c.7410+6T>G p.? Unknown Prostate COSM6011186 RUVBL1 c.912C>T p.V304V Substitution - coding silent Skin COSM52854 PBRM1 c.363_364delCA p.N121fs*7 Deletion - Frameshift Kidney COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5982033 DNMT3A c.? p.C562Y Substitution - Missense Pancreas COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM5880080 BAP1 c.? p.R385* Substitution - Nonsense Meninges COSM166348 DNMT3A c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1098 SMARCB1 c.?del? p.?fs Deletion - Frameshift Soft_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52820 PBRM1 c.4589delA p.D1530fs*17 Deletion - Frameshift Kidney COSM51384 IDH1 c.? p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM96447 CREBBP c.? p.G2229S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144585 DNMT3A c.?_?del646 p.G646fs*? Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5635581 INOC1 c.2232G>T p.L744L Substitution - coding silent Oesophagus COSM1355079 PHRF1 c.3013A>C p.K1005Q Substitution - Missense Large_intestine COSM21286 BRD2 c.550_552delGAA p.E184_Q185>Q Deletion - In frame Stomach COSM3614198 DUSP1 c.1074G>A p.Q358Q Substitution - coding silent Skin COSM216867 KDM6A c.1819G>A p.V607M Substitution - Missense Large_intestine COSM4487792 KDM5A c.322C>T p.P108S Substitution - Missense Skin COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM122851 EP300 c.4195G>A p.D1399N Substitution - Missense Lung COSM1644263 ACTR5 c.205C>G p.R69G Substitution - Missense Urinary_tract COSM3897163 CHRAC1 c.215T>C p.L72P Substitution - Missense Stomach COSM4028649 LBR c.1745A>G p.H582R Substitution - Missense Stomach COSM4590343 SETBP1 c.3806A>G p.D1269G Substitution - Missense Upper_aerodigestive_tract COSM3483231 SMYD2 c.577C>T p.H193Y Substitution - Missense Skin COSM4645851 KDM5A c.3862G>A p.A1288T Substitution - Missense Large_intestine COSM1248196 CHD1 c.2227G>C p.G743R Substitution - Missense Oesophagus COSM4645064 MEN1 c.1439G>A p.R480Q Substitution - Missense Large_intestine COSM5396689 NCOA1 c.2165C>T p.T722I Substitution - Missense Skin COSM4991291 DOT1L c.4092C>T p.A1364A Substitution - coding silent Skin COSM5504100 MGA c.3943G>T p.E1315* Substitution - Nonsense Biliary_tract COSM443634 ASXL1 c.1534C>T p.Q512* Substitution - Nonsense Breast COSM3364051 SMC1A c.1524G>A p.K508K Substitution - coding silent Kidney COSM4150020 ACTR8 c.1789A>G p.T597A Substitution - Missense Ovary COSM277265 SHPRH c.595A>C p.K199Q Substitution - Missense Large_intestine COSM4605091 NCOR1 c.3102C>T p.P1034P Substitution - coding silent Upper_aerodigestive_tract COSM5428709 TIF1 c.276C>A p.P92P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4603373 EP400 c.8156_8157insGCA p.Q2748_T2749insQ Insertion - In frame Large_intestine COSM1360182 EP400 c.7017G>A p.A2339A Substitution - coding silent Large_intestine COSM4531467 DNMT3A c.1790G>A p.R597Q Substitution - Missense Skin COSM1235257 TBL1XR1 c.562T>A p.S188T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4766128 TET2 c.4121G>A p.C1374Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM40167 GTF3C4 c.1979G>A p.G660E Substitution - Missense Central_nervous_system COSM5962523 KMT2D c.5311C>G p.R1771G Substitution - Missense Breast COSM4728293 SMARCA4 c.2730G>A p.T910T Substitution - coding silent Large_intestine COSM5347216 ARID1A c.?_?del? p.A1539fs*? Deletion - Frameshift Endometrium COSM1693768 MECOM c.2437G>A p.E813K Substitution - Missense Skin COSM3013853 PRDM9 c.2188A>C p.S730R Substitution - Missense Large_intestine COSM1356508 SUV420H1 c.904G>T p.E302* Substitution - Nonsense Large_intestine COSM87192 TET2 c.5885C>T p.P1962L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4637168 TIF1 c.1426C>T p.Q476* Substitution - Nonsense Large_intestine COSM985383 KDM6B c.3503C>A p.P1168Q Substitution - Missense Endometrium COSM4680494 EHMT1 c.2697C>T p.C899C Substitution - coding silent Large_intestine COSM1185555 TTF2 c.1015C>T p.L339F Substitution - Missense Lung COSM5394459 MBD5 c.3845A>G p.N1282S Substitution - Missense Skin COSM4559561 NCOA2 c.80G>A p.G27E Substitution - Missense Skin COSM1684826 PRDM1 c.1708C>T p.Q570* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3294962 ZMYND8 c.648T>C p.C216C Substitution - coding silent Large_intestine COSM1179107 KMT2C c.851G>A p.R284Q Substitution - Missense Soft_tissue COSM5574010 KMT2D c.5761_5762insC p.A1922fs*10 Insertion - Frameshift Prostate COSM1179107 KMT2C c.851G>A p.R284Q Substitution - Missense Soft_tissue COSM4942478 CHD4 c.689C>T p.A230V Substitution - Missense Liver COSM592268 NIPBL c.8270G>A p.R2757H Substitution - Missense Kidney COSM3440107 SFMBT2 c.1786C>T p.Q596* Substitution - Nonsense Skin COSM480623 SETD5_ENST00000402198 c.1026T>C p.T342T Substitution - coding silent Kidney COSM4980670 SETD2 c.3655C>G p.L1219V Substitution - Missense Oesophagus COSM1310489 LMNB1 c.817G>C p.E273Q Substitution - Missense Urinary_tract COSM41292 IDH1 c.? p.R132G Substitution - Missense Biliary_tract COSM132977 ASXL1 c.? p.N986S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3978450 EPC1 c.614A>G p.N205S Substitution - Missense Lung COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM147495 KMT2D c.11700A>G p.P3900P Substitution - coding silent Soft_tissue COSM4550247 DIDO1 c.4968G>A p.R1656R Substitution - coding silent Skin COSM1605660 HNF1A c.1767A>G p.T589T Substitution - coding silent Liver COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4163947 UHRF2 c.1479T>G p.G493G Substitution - coding silent Oesophagus COSM4616574 MSH6 c.3024C>T p.T1008T Substitution - coding silent Large_intestine COSM4853408 SMARCA2 c.3186G>C p.L1062F Substitution - Missense Cervix COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM270408 TRRAP c.6973C>T p.R2325W Substitution - Missense Large_intestine COSM5563456 KMT2C c.7191G>T p.Q2397H Substitution - Missense Prostate COSM5809210 SMYD1 c.375C>T p.C125C Substitution - coding silent Liver COSM3869749 MTA2 c.1718C>T p.S573F Substitution - Missense Skin COSM5454178 EYA3 c.1086G>C p.E362D Substitution - Missense Large_intestine COSM5610598 SMARCA2 c.958C>T p.Q320* Substitution - Nonsense Skin COSM1336717 TDRD5 c.1927G>A p.E643K Substitution - Missense Skin COSM5380516 ARID1A c.3408G>A p.A1136A Substitution - coding silent Skin COSM52789 PBRM1 c.4087-3C>G p.? Unknown Kidney COSM5974891 ATXN7 c.1002G>A p.K334K Substitution - coding silent Upper_aerodigestive_tract COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM431203 KMT2D c.10026G>A p.Q3342Q Substitution - coding silent Soft_tissue COSM4426335 PHIP c.5052T>C p.D1684D Substitution - coding silent Oesophagus COSM5171177 EHMT2 c.2425G>A p.A809T Substitution - Missense Large_intestine COSM3422494 BRD4 c.1919G>A p.R640Q Substitution - Missense Large_intestine COSM3551837 PRMT2 c.362G>T p.R121L Substitution - Missense Skin COSM1364804 PHC1 c.427A>G p.N143D Substitution - Missense Large_intestine COSM1338150 RBBP5 c.1558G>T p.V520L Substitution - Missense Large_intestine COSM1666930 TET2 c.? p.S733F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3259673 EZH2 c.835C>T p.H279Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1733634 TDRD5 c.1483T>C p.S495P Substitution - Missense Pancreas COSM1012896 DNMT3A c.2731T>C p.C911R Substitution - Missense Lung COSM3696409 PRDM5 c.1558C>T p.P520S Substitution - Missense Large_intestine COSM4015920 KAT6B c.4080A>G p.E1360E Substitution - coding silent Stomach COSM28801 KDM6A c.226-?_654+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3967695 MTA2 c.889T>C p.W297R Substitution - Missense Central_nervous_system COSM97177 PRDM1 c.578_579insA p.Q194fs*5 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3754994 PRMT7 c.1638C>T p.D546D Substitution - coding silent Large_intestine COSM3517617 KAT2A c.1039G>A p.E347K Substitution - Missense Skin COSM302658 KMT2C c.11110G>T p.V3704L Substitution - Missense Central_nervous_system COSM423080 PBRM1 c.2068delA p.R690fs*9 Deletion - Frameshift Kidney COSM1298844 HCFC2 c.826C>T p.H276Y Substitution - Missense Urinary_tract COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1108530 KIAA1045 c.317G>A p.R106H Substitution - Missense Ovary COSM245194 KDM5A c.1703G>A p.R568H Substitution - Missense Prostate COSM5574530 CREBBP c.5888A>G p.E1963G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5944524 TET2 c.5669_5670insA p.N1890fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1319151 EYA4 c.963C>A p.N321K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3501113 MGA c.7964C>T p.T2655I Substitution - Missense Skin COSM1124808 ZMYM3 c.2638C>T p.H880Y Substitution - Missense Oesophagus COSM1211257 JHDM1D c.2543G>A p.S848N Substitution - Missense Large_intestine COSM4022225 POGZ c.3191G>A p.G1064E Substitution - Missense Stomach COSM5985642 KMT2C c.? p.T180fs*10 Frameshift Salivary_gland COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3719743 CHD9 c.8433A>C p.P2811P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1743003 CHD2 c.2798T>C p.M933T Substitution - Missense Biliary_tract COSM4725128 SETBP1 c.1863G>C p.K621N Substitution - Missense Large_intestine COSM1122194 HDAC6 c.1761C>T p.C587C Substitution - coding silent Endometrium COSM3416863 ARID2 c.4017G>T p.Q1339H Substitution - Missense Large_intestine COSM5563114 CREBBP c.2962C>A p.P988T Substitution - Missense Prostate COSM3892132 DOT1L c.4475C>T p.S1492F Substitution - Missense Skin COSM4766131 TET2 c.3954+1G>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1023508 KDM3A c.2951A>C p.K984T Substitution - Missense Endometrium COSM4015527 SFMBT2 c.1121G>T p.G374V Substitution - Missense Stomach COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM252979 CLOCK c.368delT p.L123fs*1 Deletion - Frameshift Large_intestine COSM1285332 HDAC6 c.3606C>A p.A1202A Substitution - coding silent Autonomic_ganglia COSM4970529 PRDM2 c.849T>A p.D283E Substitution - Missense Central_nervous_system COSM3858415 EYA4 c.1501+2T>C p.? Unknown Stomach COSM4401144 TP53BP1 c.2916A>C p.K972N Substitution - Missense Skin COSM473480 KDM6B c.2635G>T p.A879S Substitution - Missense Upper_aerodigestive_tract COSM1387283 BAHCC1 c.2544_2545insC p.G851fs*229 Insertion - Frameshift Large_intestine COSM3729846 KMT2A c.11265_11266insC p.N3759fs*9 Insertion - Frameshift Stomach COSM1703829 ALKBH3 c.604C>T p.P202S Substitution - Missense Skin COSM3720942 BAHCC1 c.5595C>T p.S1865S Substitution - coding silent Upper_aerodigestive_tract COSM3423188 SUV420H2 c.1050C>T p.H350H Substitution - coding silent Large_intestine COSM1750613 DNMT1 c.504A>G p.T168T Substitution - coding silent Urinary_tract COSM5361839 KMT2D c.12793T>C p.S4265P Substitution - Missense Large_intestine COSM386424 GLYATL1 c.707T>G p.L236R Substitution - Missense Lung COSM5367731 CBX3 c.35_36insA p.Q15fs*6 Insertion - Frameshift Large_intestine COSM1329302 EYA4 c.107C>G p.A36G Substitution - Missense Ovary COSM4765130 SRCAP c.5626_5627insC p.P1879fs*21 Insertion - Frameshift Biliary_tract COSM3059447 RUVBL1 c.949C>T p.R317C Substitution - Missense Stomach COSM162843 NCOA7 c.997C>A p.R333R Substitution - coding silent Breast COSM107100 RNF17 c.966G>A p.Q322Q Substitution - coding silent Endometrium COSM3805027 ZMYM6 c.2551G>T p.E851* Substitution - Nonsense Breast COSM437780 BAHCC1 c.4053C>T p.A1351A Substitution - coding silent Thyroid COSM1602149 ARID1A c.4258_4259insA p.P1421fs*24 Insertion - Frameshift Liver COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5704132 DPF2 c.904G>C p.G302R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM988847 MBD1 c.54C>T p.R18R Substitution - coding silent Endometrium COSM1583046 TET2 c.? p.R1161fs*64 Frameshift Haematopoietic_and_lymphoid_tissue COSM3859854 JARID2 c.3172A>G p.M1058V Substitution - Missense Stomach COSM2739002 NCOR1 c.4224G>T p.T1408T Substitution - coding silent Liver COSM107135 PRDM4 c.445C>T p.P149S Substitution - Missense Skin COSM1661670 EP300 c.4519G>A p.D1507N Substitution - Missense Oesophagus COSM4697164 L3MBTL4 c.461-3_461-2insT p.? Unknown Large_intestine COSM1115431 PHF6 c.5C>G p.S2* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3126284 SMARCA5 c.2988G>T p.E996D Substitution - Missense Large_intestine COSM4494074 BAZ2A c.4374C>T p.Y1458Y Substitution - coding silent Skin COSM1155826 ASXL1 c.2123A>T p.Q708L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5476357 NCOA1 c.1924G>A p.E642K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2151451 SMARCA2 c.3292G>A p.G1098S Substitution - Missense Central_nervous_system COSM4130750 KDM6B c.2145C>T p.H715H Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1559373 HNF1A c.1545G>A p.T515T Substitution - coding silent Central_nervous_system COSM5549586 PRDM8 c.1028C>T p.A343V Substitution - Missense Prostate COSM1444083 BRPF3 c.2625A>C p.R875S Substitution - Missense Large_intestine COSM1604306 PRDM10 c.2671A>G p.T891A Substitution - Missense Liver COSM1615492 NCOA6 c.2909C>G p.P970R Substitution - Missense Liver COSM3188406 KAT2A c.223delG p.D75fs*7 Deletion - Frameshift Biliary_tract COSM2910879 ING5 c.315G>A p.A105A Substitution - coding silent Pancreas COSM3905440 WDR5 c.456C>T p.S152S Substitution - coding silent Stomach COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM42016 TET2 c.4393C>T p.R1465* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5423558 KMT2D c.7802delC p.P2601fs*39 Deletion - Frameshift Prostate COSM88025 SMARCA4 c.2729C>T p.T910M Substitution - Missense Central_nervous_system COSM1168674 ARID1A c.6785C>A p.S2262* Substitution - Nonsense Pancreas COSM3545802 PHF20 c.1695C>T p.S565S Substitution - coding silent Skin COSM5508847 WHSC1L1 c.545C>G p.A182G Substitution - Missense Biliary_tract COSM2773708 KIAA1045 c.700G>A p.G234R Substitution - Missense Stomach COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5967273 KMT2D c.13138_13138delG p.E4380fs*16 Deletion - Frameshift Salivary_gland COSM1017644 SP100 c.544C>T p.R182* Substitution - Nonsense Endometrium COSM5986175 SETD2 c.6019C>G p.R2007G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4728659 SND1 c.1112C>G p.S371C Substitution - Missense Large_intestine COSM913233 BRDT c.1108G>A p.E370K Substitution - Missense Oesophagus COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3431348 EZH2 c.1038G>A p.E346E Substitution - coding silent Large_intestine COSM263223 RAI1 c.1745A>C p.D582A Substitution - Missense Large_intestine COSM4002747 PBRM1 c.3597A>T p.P1199P Substitution - coding silent Soft_tissue COSM1109601 KDM4C c.2249C>T p.A750V Substitution - Missense Endometrium COSM4622784 ZMYM2 c.1255G>A p.A419T Substitution - Missense Large_intestine COSM4497402 SMARCA4 c.4870C>T p.P1624S Substitution - Missense Skin COSM3307028 HDAC9 c.480G>A p.T160T Substitution - coding silent Skin COSM3733336 KMT2C c.2263C>T p.Q755* Substitution - Nonsense Oesophagus COSM4637864 MBD5 c.3252C>T p.S1084S Substitution - coding silent Large_intestine COSM3900866 CHD7 c.3714A>G p.V1238V Substitution - coding silent Stomach COSM5772690 BRWD3 c.2618G>C p.R873T Substitution - Missense Breast COSM1324407 CHD9 c.4048A>T p.K1350* Substitution - Nonsense Ovary COSM267174 PHF23 c.768G>A p.E256E Substitution - coding silent Large_intestine COSM1406107 SP140 c.484G>T p.A162S Substitution - Missense Large_intestine COSM5471298 BRWD1 c.3039A>G p.E1013E Substitution - coding silent Large_intestine COSM1341817 HDAC1 c.570G>A p.T190T Substitution - coding silent Large_intestine COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM5069474 JHDM1D c.1101_1102insG p.N368fs*7 Insertion - Frameshift Large_intestine COSM5752973 PHF2 c.2256_2257ins13 p.G758fs*19 Insertion - Frameshift Pancreas COSM5053406 RBBP4 c.808G>A p.D270N Substitution - Missense Stomach COSM5958890 ARID2 c.1211delT p.C405fs*11 Deletion - Frameshift Thyroid COSM357692 ARID1A c.5172G>C p.L1724L Substitution - coding silent Lung COSM5917791 SP100 c.1450G>A p.E484K Substitution - Missense Skin COSM1757016 DIDO1 c.3809C>T p.P1270L Substitution - Missense Urinary_tract COSM1751914 PHF21B c.973G>T p.A325S Substitution - Missense Urinary_tract COSM5916156 ATF7IP c.1744C>T p.Q582* Substitution - Nonsense Skin COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1263123 PRMT10 c.56C>T p.A19V Substitution - Missense Oesophagus COSM1568039 SHPRH c.425G>T p.S142I Substitution - Missense Large_intestine COSM76399 SFMBT2 c.2656G>T p.V886L Substitution - Missense Ovary COSM3846715 PHC3 c.1545C>A p.G515G Substitution - coding silent Breast COSM5492125 PRDM1 c.1920G>A p.L640L Substitution - coding silent Biliary_tract COSM254627 CREBBP c.310C>T p.Q104* Substitution - Nonsense Urinary_tract COSM3844856 HDAC6 c.1889C>T p.A630V Substitution - Missense Breast COSM3583876 SMYD1 c.1459C>T p.H487Y Substitution - Missense Skin COSM6005444 KDM5D c.352-3C>T p.? Unknown Prostate COSM4728323 SMARCC1 c.3077G>C p.G1026A Substitution - Missense Large_intestine COSM1100867 CHD7 c.7013A>C p.Q2338P Substitution - Missense Endometrium COSM895013 PRDM2 c.2390C>A p.P797H Substitution - Missense Endometrium COSM4977126 SCML2 c.528G>A p.M176I Substitution - Missense Oesophagus COSM4486963 NCOA3 c.3121C>T p.P1041S Substitution - Missense Skin COSM4590784 ATF7IP c.2647C>A p.Q883K Substitution - Missense Upper_aerodigestive_tract COSM1636387 PHF6 c.1088A>G p.N363S Substitution - Missense Liver COSM166345 DNMT3A c.? p.? Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5104043 SMARCC2 c.881delG p.G294fs*46 Deletion - Frameshift Large_intestine COSM3357176 PRMT1 c.1026C>T p.T342T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4805580 MECOM c.1948G>C p.D650H Substitution - Missense Liver COSM5602861 ASXL3 c.259G>C p.G87R Substitution - Missense Skin COSM1047213 SFMBT1 c.2041C>T p.R681C Substitution - Missense Large_intestine COSM1609409 CHD9 c.1845A>G p.I615M Substitution - Missense Liver COSM5056424 GATAD2A c.856C>T p.R286W Substitution - Missense Stomach COSM1257772 KMT2A c.448G>C p.G150R Substitution - Missense Oesophagus COSM6000432 HDAC7 c.1570T>G p.Y524D Substitution - Missense Prostate COSM3758531 NCOA6 c.2247A>G p.P749P Substitution - coding silent Large_intestine COSM3810591 TRIM66 c.3650G>A p.*1217* Substitution - coding silent Breast COSM756017 FMR1 c.201G>T p.V67V Substitution - coding silent Lung COSM203096 ATAD2 c.354delA p.E119fs*8 Deletion - Frameshift Large_intestine COSM4099350 ADNP c.2356A>C p.I786L Substitution - Missense Stomach COSM5115534 UHRF2 c.1285-9G>A p.? Unknown Large_intestine COSM4702522 KMT2C c.511_513delAAG p.K171delK Deletion - In frame Small_intestine COSM4521034 PRDM9 c.1090G>A p.E364K Substitution - Missense Skin COSM1037965 RUVBL1 c.1107G>T p.Q369H Substitution - Missense Endometrium COSM1749566 SETD1A c.513C>G p.I171M Substitution - Missense Urinary_tract COSM5347194 ARID1A c.?_?del? p.Y2254fs*? Deletion - Frameshift Endometrium COSM1399853 MBD5 c.3983C>A p.S1328Y Substitution - Missense Large_intestine COSM5964961 HDAC2 c.770C>T p.A257V Substitution - Missense Breast COSM3705047 ASH1L c.8120+5G>T p.? Unknown Liver COSM3805034 ZMYM4 c.949C>G p.Q317E Substitution - Missense Breast COSM5484157 ZBTB4 c.521G>A p.R174H Substitution - Missense Large_intestine COSM5006578 BAP1 c.? p.? Unknown Kidney COSM96433 EP300 c.5095delA p.N1700fs*9 Deletion - Frameshift Large_intestine COSM1204292 DNMT1 c.3937G>A p.A1313T Substitution - Missense Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1173291 TRIM24 c.1718G>T p.S573I Substitution - Missense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1067685 NIPBL c.4917A>G p.K1639K Substitution - coding silent Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM187703 MGA c.7450C>T p.R2484W Substitution - Missense Prostate COSM5708673 ZCWPW2 c.963T>G p.Y321* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4521980 PRDM9 c.1139G>A p.G380E Substitution - Missense Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1158910 BRD9 c.378G>A p.L126L Substitution - coding silent Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM692640 KDM2B c.2158G>C p.D720H Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3724484 ARID1A c.3524_3524delC p.P1175fs*5 Deletion - Frameshift Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM274042 ARID4A c.3483G>A p.P1161P Substitution - coding silent Large_intestine COSM3363362 DIDO1 c.2301T>C p.L767L Substitution - coding silent Kidney COSM3479267 TDRD5 c.115G>A p.V39I Substitution - Missense Skin COSM3707009 SETD1A c.1769G>A p.R590Q Substitution - Missense Liver COSM99740 DNMT3A c.2645G>C p.R882P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1072321 HDAC2 c.601A>G p.K201E Substitution - Missense Endometrium COSM211044 TTF2 c.1493G>A p.R498H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3615954 NIPBL c.4822G>C p.A1608P Substitution - Missense Skin COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM319436 CHD8 c.3818T>G p.L1273R Substitution - Missense Lung COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1108535 KIAA1045 c.816G>T p.E272D Substitution - Missense Endometrium COSM1363344 MBD6 c.2006delC p.P671fs*4 Deletion - Frameshift Prostate COSM5583139 ZMYM4 c.3225C>T p.L1075L Substitution - coding silent Skin COSM5658885 PHF1 c.772G>T p.V258F Substitution - Missense Soft_tissue COSM3294864 ZMYND8 c.2433C>T p.A811A Substitution - coding silent Skin COSM3663865 NCOA2 c.266C>T p.A89V Substitution - Missense Liver COSM3906188 EHMT1 c.3325G>A p.V1109M Substitution - Missense Stomach COSM2813361 CARM1 c.1281C>T p.F427F Substitution - coding silent Large_intestine COSM5552908 SUV420H1 c.481G>A p.E161K Substitution - Missense Prostate COSM240082 HDAC11 c.448G>A p.G150R Substitution - Missense Prostate COSM1321732 SIRT3 c.1168G>A p.E390K Substitution - Missense Ovary COSM3365022 ZBTB38 c.2325G>A p.K775K Substitution - coding silent Kidney COSM1196685 CHD6 c.2322G>T p.Q774H Substitution - Missense Lung COSM3399286 RNF17 c.900C>A p.N300K Substitution - Missense Central_nervous_system COSM2157116 EPC1 c.964A>G p.K322E Substitution - Missense Central_nervous_system COSM1311076 PRDM9 c.1886G>C p.R629T Substitution - Missense Skin COSM997 SMARCB1 c.1102C>T p.Q368* Substitution - Nonsense Skin COSM24911 HNF1A c.686G>A p.R229Q Substitution - Missense Breast COSM30579 SMARCA4 c.3557C>T p.A1186V Substitution - Missense Large_intestine COSM13391 MSH6 c.1438G>T p.V480L Substitution - Missense Endometrium COSM21759 ARID1A c.2064C>T p.H688H Substitution - coding silent Skin COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM36205 ASXL1 c.3306G>T p.E1102D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43006 EYA1 c.1460C>T p.S487L Substitution - Missense Central_nervous_system COSM85851 MEN1 c.561_561delG p.N189fs*35 Deletion - Frameshift Pancreas COSM116139 EPC1 c.853G>C p.E285Q Substitution - Missense Ovary COSM121913 SMYD1 c.513G>A p.S171S Substitution - coding silent Upper_aerodigestive_tract COSM125328 PHC2 c.1299G>C p.Q433H Substitution - Missense Upper_aerodigestive_tract COSM131034 ARID2 c.4065delA p.K1355fs*3 Deletion - Frameshift Liver COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Soft_tissue COSM255189 PHF6 c.968+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41850 TET2 c.1630C>T p.R544* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM373211 JARID2 c.209G>T p.G70V Substitution - Missense Lung COSM383935 DNMT1 c.3480C>T p.I1160I Substitution - coding silent Lung COSM421834 TRRAP c.9615G>T p.W3205C Substitution - Missense Urinary_tract COSM417448 MBTD1 c.416G>A p.R139Q Substitution - Missense Urinary_tract COSM422802 PBRM1 c.3028C>T p.R1010* Substitution - Nonsense Kidney COSM429390 PHRF1 c.3609G>A p.A1203A Substitution - coding silent Large_intestine COSM455828 TAF1L c.2495G>A p.R832H Substitution - Missense Breast COSM987921 ASXL3 c.2057G>T p.R686I Substitution - Missense Endometrium COSM1049739 TET2 c.241G>T p.E81* Substitution - Nonsense Endometrium COSM906838 SMYD3 c.98G>T p.S33I Substitution - Missense Endometrium COSM895025 PRDM2 c.4686G>A p.S1562S Substitution - coding silent Endometrium COSM1034530 EP300 c.2789C>T p.P930L Substitution - Missense Endometrium COSM1063499 HDAC3 c.750G>A p.T250T Substitution - coding silent Endometrium COSM1060225 LMNB1 c.1558T>C p.S520P Substitution - Missense Endometrium COSM1124909 TAF1 c.3678G>T p.R1226S Substitution - Missense Endometrium COSM1101414 NCOA2 c.2593delA p.I865fs*49 Deletion - Frameshift Endometrium COSM1084073 PHF14 c.2396G>A p.R799Q Substitution - Missense Endometrium COSM1169644 KDM5C c.704_705insA p.L236fs*27 Insertion - Frameshift Kidney COSM1295218 LMNA c.456C>G p.L152L Substitution - coding silent Urinary_tract COSM1318176 MBD5 c.2940G>A p.Q980Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1268374 TP53BP1 c.1402G>T p.E468* Substitution - Nonsense Oesophagus COSM1318624 TET2 c.2870_2871insA p.Q958fs*14 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1324135 RAI1 c.840G>A p.Q280Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1399866 EPC2 c.2361C>T p.H787H Substitution - coding silent Large_intestine COSM1406759 HDAC4 c.312C>T p.H104H Substitution - coding silent Large_intestine COSM1425751 SETD5_ENST00000402198 c.3382delA p.K1129fs*15 Deletion - Frameshift Large_intestine COSM1449846 HDAC9 c.2494C>T p.Q832* Substitution - Nonsense Large_intestine COSM1342112 ZMYM1 c.1510delA p.T506fs*15 Deletion - Frameshift Large_intestine COSM1362029 KMT2D c.6653C>T p.S2218L Substitution - Missense Large_intestine COSM1615456 DNMT3B c.1641G>A p.Q547Q Substitution - coding silent Liver COSM1626435 TDRKH c.350A>T p.Q117L Substitution - Missense Liver COSM1680488 DOT1L c.3609A>C p.K1203N Substitution - Missense Large_intestine COSM1643233 SND1 c.2657A>G p.K886R Substitution - Missense Stomach COSM1729945 KMT2C c.569G>C p.R190P Substitution - Missense Liver COSM1742397 SP140_ENST00000392045 c.997G>T p.E333* Substitution - Nonsense Urinary_tract COSM42037 TET2 c.4210C>T p.R1404* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1740615 NCOA6 c.458T>G p.M153R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1979511 PRDM11 c.797G>A p.R266H Substitution - Missense Thyroid COSM2006831 KMT2D c.11606T>C p.V3869A Substitution - Missense Large_intestine COSM2149248 EYA3 c.342G>A p.T114T Substitution - coding silent Central_nervous_system COSM2209134 TDRD10 c.288C>T p.H96H Substitution - coding silent Large_intestine COSM2819119 PRDM15 c.2207G>T p.R736L Substitution - Missense Large_intestine COSM2833298 GLYR1 c.1282G>T p.G428C Substitution - Missense Lung COSM3373201 SETD2 c.1905G>C p.E635D Substitution - Missense Thyroid COSM3443961 KMT2A c.4786C>T p.H1596Y Substitution - Missense Skin COSM3423985 DNMT3L c.715G>A p.D239N Substitution - Missense Large_intestine COSM3624641 BAG6 c.2787C>T p.A929A Substitution - coding silent Skin COSM3642753 TRRAP c.1845C>T p.I615I Substitution - coding silent Skin COSM3637032 HDAC9 c.1301C>T p.S434L Substitution - Missense Skin COSM3615189 PRDM9 c.310C>T p.P104S Substitution - Missense Skin COSM3576958 IDH1 c.520+2T>C p.? Unknown Skin COSM3670320 SETMAR c.271C>T p.R91C Substitution - Missense Central_nervous_system COSM3708734 ATRX c.5661G>A p.W1887* Substitution - Nonsense Liver COSM3710912 KMT2D c.6745G>T p.V2249F Substitution - Missense Upper_aerodigestive_tract COSM3759723 MBD4 c.1413C>T p.G471G Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3783025 RAI1 c.834G>C p.Q278H Substitution - Missense Pancreas COSM3817863 MYST1 c.1369A>G p.K457E Substitution - Missense Breast COSM3855025 NIPBL c.4907G>A p.R1636H Substitution - Missense Stomach COSM3829022 L3MBTL3 c.1875C>T p.S625S Substitution - coding silent Breast COSM3827745 NSD1 c.26G>A p.R9K Substitution - Missense Breast COSM3905418 BRD3 c.1662C>T p.G554G Substitution - coding silent Stomach COSM3873108 RING1 c.238G>A p.G80R Substitution - Missense Large_intestine COSM3879577 KMT2C c.5792C>A p.S1931* Substitution - Nonsense Stomach COSM4008807 ORC1 c.2509A>G p.S837G Substitution - Missense Stomach COSM3998641 TDG c.1099G>A p.V367M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4070288 KDM6B c.3337G>A p.G1113S Substitution - Missense Stomach COSM4152829 HDAC7 c.590C>T p.S197F Substitution - Missense Kidney COSM4383932 TET2 c.3995T>C p.L1332P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4385123 ASXL1 c.3139A>T p.N1047Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4385265 EP300 c.6796_6798delCAG p.Q2268delQ Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM4406870 PRDM1 c.953G>A p.S318N Substitution - Missense Liver COSM4413397 BAZ2B c.5015A>G p.N1672S Substitution - Missense Genital_tract COSM4491264 MGA c.3779C>T p.P1260L Substitution - Missense Skin COSM4501673 GTF3C1 c.5956C>T p.P1986S Substitution - Missense Skin COSM4426957 TCF20 c.5726A>G p.H1909R Substitution - Missense Oesophagus COSM4496047 POGZ c.466C>T p.P156S Substitution - Missense Skin COSM4428267 SMEK2 c.1033C>G p.Q345E Substitution - Missense Oesophagus COSM4464630 HDAC9 c.1343C>T p.P448L Substitution - Missense Skin COSM4410937 BAP1 c.553G>A p.G185R Substitution - Missense Kidney COSM4767597 KDM6A c.901C>T p.Q301* Substitution - Nonsense Biliary_tract COSM4682159 EZH2 c.937C>T p.R313W Substitution - Missense Large_intestine COSM4665179 BAP1 c.449G>A p.R150H Substitution - Missense Large_intestine COSM4663218 ARID1A c.1638_1639insC p.S547fs*76 Insertion - Frameshift Large_intestine COSM4629063 BRWD3 c.1191A>G p.E397E Substitution - coding silent Large_intestine COSM4646096 PBRM1 c.1577T>A p.L526* Substitution - Nonsense Large_intestine COSM4747906 PHF15 c.570delG p.L192fs*73 Deletion - Frameshift Stomach COSM4757072 TAF1 c.3790T>C p.C1264R Substitution - Missense Stomach COSM4803668 JMJD1C c.4143T>C p.S1381S Substitution - coding silent Liver COSM4891222 PHF8 c.767G>T p.W256L Substitution - Missense Upper_aerodigestive_tract COSM4990887 CREBBP c.3004C>T p.Q1002* Substitution - Nonsense Skin COSM4995722 PHF12 c.2947G>T p.V983F Substitution - Missense Upper_aerodigestive_tract COSM4979514 PRDM1 c.532G>T p.G178* Substitution - Nonsense Oesophagus COSM4973373 SETBP1 c.1889C>T p.A630V Substitution - Missense Oesophagus COSM4970858 KDM2A c.2386G>A p.G796R Substitution - Missense Central_nervous_system COSM5036447 ZMYM6 c.2198C>T p.S733L Substitution - Missense Oesophagus COSM5041063 HDAC3 c.338A>G p.Q113R Substitution - Missense Liver COSM5046903 SMARCB1 c.712G>A p.A238T Substitution - Missense Oesophagus COSM5377350 TTF2 c.2768T>C p.L923P Substitution - Missense Skin COSM5413152 BRWD3 c.2515G>A p.D839N Substitution - Missense Skin COSM5374415 KDM2B c.19G>A p.E7K Substitution - Missense Skin COSM5426311 C5orf35 c.590G>A p.R197K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5450157 CHD1 c.330G>A p.Q110Q Substitution - coding silent Large_intestine COSM5456485 TP53BP1 c.4635G>A p.T1545T Substitution - coding silent Large_intestine COSM5434407 CHD9 c.3811G>T p.D1271Y Substitution - Missense Oesophagus COSM5629828 PHF12 c.552C>T p.D184D Substitution - coding silent Oesophagus COSM5718761 BPTF c.3304C>T p.L1102F Substitution - Missense Skin COSM5720727 PRDM13 c.391G>A p.E131K Substitution - Missense Skin COSM5720825 ARID1B c.2861C>T p.P954L Substitution - Missense Skin COSM5689219 PHF20 c.1769G>A p.S590N Substitution - Missense Soft_tissue COSM5611451 BAP1 c.40C>T p.L14F Substitution - Missense Pleura COSM5809017 PHF14 c.1482T>G p.Y494* Substitution - Nonsense Liver COSM5809260 BRWD1 c.5915C>A p.A1972D Substitution - Missense Liver COSM5812481 ORC1 c.1253A>T p.D418V Substitution - Missense Liver COSM5920470 KMT2D c.14977G>C p.V4993L Substitution - Missense Skin COSM5910979 AP001011.3_ENST00000320876 c.3089T>C p.L1030S Substitution - Missense Skin COSM5965719 RERE c.4138G>A p.A1380T Substitution - Missense Breast COSM5954428 CHD8 c.6885+4A>C p.? Unknown Upper_aerodigestive_tract COSM1169681 TET2 c.? p.Q803* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM52954 DNMT3A c.? p.R882P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5766181 ATRX c.?_?del? p.? Unknown Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1162160 ATRX c.? p.R781* Substitution - Nonsense Central_nervous_system COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4440696 TBL1XR1 c.1256C>T p.S419F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM377975 HDAC9 c.3080G>C p.G1027A Substitution - Missense Lung COSM976134 RAI1 c.5398G>A p.D1800N Substitution - Missense Large_intestine COSM1017654 SP100 c.1143G>A p.E381E Substitution - coding silent Endometrium COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM1674942 BRD3 c.833G>A p.R278Q Substitution - Missense Large_intestine COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM1071553 CHD1 c.986A>G p.H329R Substitution - Missense Endometrium COSM4054571 MGA c.6055A>G p.R2019G Substitution - Missense Stomach COSM4888087 CREBBP c.5440G>A p.G1814R Substitution - Missense Upper_aerodigestive_tract COSM1081861 PHIP c.3182C>T p.A1061V Substitution - Missense Endometrium COSM5752534 KMT2C c.4853C>G p.S1618* Substitution - Nonsense Breast COSM956526 ARID4A c.1171A>C p.K391Q Substitution - Missense Endometrium COSM3153122 EP300 c.2671A>C p.T891P Substitution - Missense Soft_tissue COSM1605105 KDM2A c.2416C>T p.P806S Substitution - Missense Liver COSM429983 EED c.619C>T p.L207L Substitution - coding silent Soft_tissue COSM2042526 SUV420H1 c.2054C>T p.T685I Substitution - Missense Large_intestine COSM1303767 CXXC1 c.326G>A p.R109H Substitution - Missense Urinary_tract COSM1362027 KMT2D c.6665G>T p.G2222V Substitution - Missense Large_intestine COSM3652164 TDRD7 c.317G>A p.R106K Substitution - Missense Skin COSM988370 SETBP1 c.559A>G p.K187E Substitution - Missense Endometrium COSM920708 TAF3 c.2572C>T p.R858* Substitution - Nonsense Endometrium COSM3668455 PHF20 c.1032G>C p.L344F Substitution - Missense Liver COSM4803863 RUVBL1 c.193G>T p.A65S Substitution - Missense Liver COSM4702534 MLL5 c.4655_4657delCTT p.S1555delS Deletion - In frame Large_intestine COSM3546384 CHD6 c.136G>A p.E46K Substitution - Missense Skin COSM13835 ARID1A c.2834delG p.G945fs*23 Deletion - Frameshift Lung COSM1076383 KDM1B c.996C>A p.F332L Substitution - Missense Endometrium COSM1557353 SCML2 c.1360C>T p.H454Y Substitution - Missense Central_nervous_system COSM1026057 NCOA6 c.5530G>T p.E1844* Substitution - Nonsense Endometrium COSM1685379 TET2 c.5569C>T p.P1857S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96390 ASXL1 c.1915_1932>19 p.T639fs*19 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM1583071 DNMT3A c.1502A>C p.N501T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3508218 GTF3C1 c.3923C>T p.S1308F Substitution - Missense Skin COSM1622600 KMT2C c.4093-10C>G p.? Unknown Liver COSM2145457 ERCC6 c.2230C>T p.R744W Substitution - Missense Skin COSM5421073 SFMBT1 c.1295T>G p.V432G Substitution - Missense Prostate COSM1635196 KMT2C c.2304A>G p.S768S Substitution - coding silent Large_intestine COSM3715667 PHF14 c.145G>T p.A49S Substitution - Missense Upper_aerodigestive_tract COSM1757130 NIPBL c.3379G>A p.D1127N Substitution - Missense Urinary_tract COSM5020318 ASXL1 c.2513A>G p.K838R Substitution - Missense Soft_tissue COSM4681603 ERCC6 c.856A>T p.K286* Substitution - Nonsense Large_intestine COSM5406229 PHF14 c.1210G>A p.V404I Substitution - Missense Skin COSM4945207 SETDB1 c.1712T>G p.L571R Substitution - Missense Testis COSM5885148 KDM6A c.3877_3878insAG p.Y1294fs*5 Insertion - Frameshift Urinary_tract COSM4442365 SMARCC2 c.2665G>A p.A889T Substitution - Missense Large_intestine COSM2210735 ASH1L c.2494A>G p.K832E Substitution - Missense Lung COSM5919501 CHD7 c.2044G>A p.E682K Substitution - Missense Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4794483 SND1 c.2576G>A p.G859E Substitution - Missense Liver COSM3185387 CAMKMT c.613A>G p.I205V Substitution - Missense Large_intestine COSM692227 EP400 c.4021C>T p.R1341W Substitution - Missense Lung COSM1190357 BRWD1 c.2436G>T p.W812C Substitution - Missense Lung COSM5996430 NSD1 c.4580C>T p.A1527V Substitution - Missense Prostate COSM4147100 KMT2D c.8223C>G p.H2741Q Substitution - Missense Thyroid COSM5405455 TDRD6 c.4846G>A p.A1616T Substitution - Missense Skin COSM4956768 TET2 c.749A>G p.N250S Substitution - Missense Liver COSM5547844 CHD6 c.3882_3885delTGAA p.Y1294fs*1 Deletion - Frameshift Prostate COSM4844932 MBD5 c.635C>G p.S212C Substitution - Missense Cervix COSM5452730 SETBP1 c.508G>A p.A170T Substitution - Missense Large_intestine COSM969264 GTF3C1 c.1264C>T p.R422W Substitution - Missense Liver COSM681094 RBBP4 c.847C>T p.P283S Substitution - Missense Lung COSM228564 KMT2A c.6905C>T p.S2302F Substitution - Missense Skin COSM5005285 NCOA7 c.2136C>T p.P712P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5701461 BPTF c.8053_8054insGCC p.P2684_P2685insR Insertion - In frame Soft_tissue COSM981384 MBTD1 c.700C>A p.L234I Substitution - Missense Endometrium COSM1494001 BPTF c.8691C>A p.F2897L Substitution - Missense Kidney COSM3381976 BAZ1B c.1792A>G p.T598A Substitution - Missense Pancreas COSM5744358 SFMBT2 c.133A>T p.N45Y Substitution - Missense Small_intestine COSM1236472 NCOA3 c.3100C>A p.L1034M Substitution - Missense Autonomic_ganglia COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4441508 KDM3B c.2767C>T p.R923W Substitution - Missense Large_intestine COSM2952696 TET2 c.679_680insA p.T229fs*25 Insertion - Frameshift Large_intestine COSM4848341 BRWD3 c.1977C>T p.D659D Substitution - coding silent Cervix COSM3421024 BRD7 c.1923G>A p.T641T Substitution - coding silent Large_intestine COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1026841 CHD6 c.7706C>T p.A2569V Substitution - Missense Endometrium COSM976126 RAI1 c.3567C>A p.V1189V Substitution - coding silent Endometrium COSM1187770 PHF2 c.2986A>T p.T996S Substitution - Missense Lung COSM5400378 PRDM5 c.933G>A p.Q311Q Substitution - coding silent Skin COSM254632 CREBBP c.3689A>G p.Y1230C Substitution - Missense Urinary_tract COSM1067709 NIPBL c.6522T>C p.L2174L Substitution - coding silent Endometrium COSM4694058 MYST3 c.2977_2979delGAG p.E993delE Deletion - In frame Large_intestine COSM252858 TAF3 c.1318G>A p.A440T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3741227 PRDM16 c.661C>T p.P221S Substitution - Missense Liver COSM694433 BAZ2A_ENST00000379441 c.736+1G>T p.? Unknown Lung COSM1638654 KAT6B c.5856G>A p.M1952I Substitution - Missense Stomach COSM4596479 BAHCC1 c.5240A>C p.N1747T Substitution - Missense Upper_aerodigestive_tract COSM4791702 ARID4A c.3403C>G p.Q1135E Substitution - Missense Liver COSM4510558 EP400 c.8411C>T p.P2804L Substitution - Missense Skin COSM478051 NCOA6 c.4331T>C p.V1444A Substitution - Missense Kidney COSM3378717 DPF1 c.831G>A p.Q277Q Substitution - coding silent Pancreas COSM1615693 NCOA3 c.3212A>C p.E1071A Substitution - Missense Liver COSM1480015 ZBTB4 c.1678C>T p.R560W Substitution - Missense Breast COSM221795 ACTR6 c.422C>G p.S141C Substitution - Missense Skin COSM1756492 SCML2 c.1155G>A p.P385P Substitution - coding silent Urinary_tract COSM693164 KDM5A c.3721C>T p.P1241S Substitution - Missense Lung COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1468088 PHF16 c.919C>T p.R307W Substitution - Missense Large_intestine COSM479737 TBL1XR1 c.531G>T p.W177C Substitution - Missense Kidney COSM5775359 SCMH1 c.526G>C p.G176R Substitution - Missense Breast COSM4059646 GTF3C1 c.4562C>T p.T1521M Substitution - Missense Stomach COSM5718730 RTF1 c.256C>T p.R86C Substitution - Missense Skin COSM171460 POGZ c.3220C>T p.R1074C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3849335 TDRD5 c.1583C>T p.P528L Substitution - Missense Pancreas COSM5388753 MUM1 c.1135_1136insC p.M380fs*4 Insertion - Frameshift Skin COSM5724750 PRDM9 c.268G>A p.D90N Substitution - Missense Skin COSM3153256 L3MBTL2 c.799G>A p.V267I Substitution - Missense Large_intestine COSM711658 DPF1 c.227G>T p.R76L Substitution - Missense Lung COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1215174 KMT2A c.2797C>T p.R933W Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1386346 ZBTB4 c.294C>A p.S98S Substitution - coding silent Large_intestine COSM4736019 TRIM28 c.2358C>T p.I786I Substitution - coding silent Large_intestine COSM1235471 TET2 c.744C>A p.H248Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1107173 EHMT1 c.1012G>A p.A338T Substitution - Missense Endometrium COSM1038798 HDAC11 c.233G>A p.R78H Substitution - Missense Stomach COSM436086 NCOR1 c.5521G>C p.E1841Q Substitution - Missense Breast COSM4064363 RAI1 c.4294C>A p.P1432T Substitution - Missense Stomach COSM1716779 TET2 c.? p.Q1654* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3634203 JHDM1D c.882C>T p.V294V Substitution - coding silent Skin COSM5920959 CHD9 c.2099C>T p.T700I Substitution - Missense Skin COSM1095774 ATAD2 c.467G>A p.R156Q Substitution - Missense Large_intestine COSM5932246 MYST3 c.4483C>T p.R1495C Substitution - Missense Skin COSM1756932 NCOR1 c.2080C>T p.R694* Substitution - Nonsense Oesophagus COSM3885866 PRMT5 c.443C>T p.S148F Substitution - Missense Skin COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM1416321 CBX7 c.508C>T p.R170W Substitution - Missense Large_intestine COSM4540196 BRWD3 c.2801G>A p.R934Q Substitution - Missense Skin COSM97162 PRDM1 c.183G>A p.E62fs Unknown Haematopoietic_and_lymphoid_tissue COSM85913 IKZF1 c.1-?_160+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1079 SMARCB1 c.691_692ins19 p.L231fs*56 Insertion - Frameshift Central_nervous_system COSM1217932 NSD1 c.3512G>A p.R1171H Substitution - Missense Large_intestine COSM4770921 SMARCA1 c.705C>T p.H235H Substitution - coding silent Pleura COSM3545270 ASXL1 c.4175C>T p.P1392L Substitution - Missense Skin COSM1390285 SMARCA4 c.4105C>A p.R1369S Substitution - Missense Large_intestine COSM2158589 JMJD1C c.679G>A p.A227T Substitution - Missense Lung COSM4385252 EP300 c.3566C>T p.A1189V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4717867 PRMT10 c.2004G>C p.G668G Substitution - coding silent Large_intestine COSM1665870 ZMYM4 c.2116delA p.M707fs*16 Deletion - Frameshift Kidney COSM4983194 KMT2C c.12415C>T p.R4139* Substitution - Nonsense Oesophagus COSM4855721 LBR c.606C>T p.I202I Substitution - coding silent Cervix COSM1027518 ZMYND8 c.2668G>A p.A890T Substitution - Missense Endometrium COSM4854509 KDM2A c.3477G>A p.Q1159Q Substitution - coding silent Cervix COSM3536903 PRMT1 c.402C>T p.I134I Substitution - coding silent Skin COSM4171968 TAF1 c.2063G>A p.G688E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3746938 PRDM16 c.444C>T p.S148S Substitution - coding silent Biliary_tract COSM484896 TRIM24 c.1661A>C p.N554T Substitution - Missense Kidney COSM3760179 ACTR8 c.1200C>T p.I400I Substitution - coding silent Large_intestine COSM2834150 BRD7 c.850G>A p.A284T Substitution - Missense Large_intestine COSM88792 EP300 c.4025+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4975597 KMT2C c.734C>T p.S245F Substitution - Missense Oesophagus COSM5904320 NCOA2 c.3916+1G>A p.? Unknown Skin COSM3991696 ACTR5 c.801T>C p.D267D Substitution - coding silent Kidney COSM914320 PCGF6 c.273G>T p.E91D Substitution - Missense Endometrium COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM355869 PHF15 c.117G>T p.S39S Substitution - coding silent Lung COSM4958522 SUZ12 c.1202-1G>A p.? Unknown Liver COSM1096255 PHF20L1 c.377G>A p.R126H Substitution - Missense Endometrium COSM1186313 BAP1 c.680G>C p.R227P Substitution - Missense Lung COSM988394 SETBP1 c.3860C>T p.S1287L Substitution - Missense Skin COSM5970021 KMT2A c.2409G>C p.L803L Substitution - coding silent Upper_aerodigestive_tract COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1292468 KMT2C c.7455A>G p.P2485P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3171677 NCOA7 c.814A>G p.M272V Substitution - Missense Large_intestine COSM1266320 SMYD3 c.724+1G>T p.? Unknown Stomach COSM5597738 TP53BP1 c.1604G>A p.R535K Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4580205 CHD3 c.1776C>T p.P592P Substitution - coding silent Bone COSM1203595 DIDO1 c.5533C>T p.R1845C Substitution - Missense Large_intestine COSM908677 ZMYM4 c.2500G>A p.E834K Substitution - Missense Endometrium COSM4119800 ATXN7 c.1561T>C p.F521L Substitution - Missense Stomach COSM1087560 KMT2C c.9157C>A p.L3053I Substitution - Missense Endometrium COSM1318626 TET2 c.2839C>T p.Q947* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM907760 ARID1A c.6707G>C p.R2236P Substitution - Missense Endometrium COSM1158854 EPC1 c.1273T>G p.W425G Substitution - Missense Pancreas COSM1187529 MYST3 c.4576A>C p.N1526H Substitution - Missense Lung COSM258152 TCF20 c.912G>T p.K304N Substitution - Missense Large_intestine COSM3864236 RBBP5 c.779C>T p.S260F Substitution - Missense Skin COSM4672069 CHD6 c.3229G>A p.E1077K Substitution - Missense Large_intestine COSM21486 HNF1A c.872delC p.P291fs*51 Deletion - Frameshift Large_intestine COSM4605718 MTA1 c.639C>T p.F213F Substitution - coding silent Upper_aerodigestive_tract COSM5559608 KDM6B c.1375C>A p.L459I Substitution - Missense Prostate COSM2820586 DNMT3L c.93C>T p.P31P Substitution - coding silent Large_intestine COSM5060964 NSD1 c.5741G>A p.R1914H Substitution - Missense Stomach COSM5747142 KAT6B c.5785T>A p.S1929T Substitution - Missense Pancreas COSM5493056 SETD8 c.789A>T p.A263A Substitution - coding silent Biliary_tract COSM725896 AIRE c.807T>C p.G269G Substitution - coding silent Lung COSM1296735 RERE c.2877G>A p.M959I Substitution - Missense Urinary_tract COSM1677494 EP400 c.8756C>T p.T2919I Substitution - Missense Breast COSM3822540 DOT1L c.3574G>A p.E1192K Substitution - Missense Breast COSM3452412 SUV420H1 c.397A>C p.R133R Substitution - coding silent Skin COSM5006580 SETD2 c.?_?del? p.?fs Deletion - Frameshift Kidney COSM3356318 KMT2D c.10576C>T p.Q3526* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1316877 BAZ2B c.3952G>A p.E1318K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM988845 MBD1 c.64C>T p.R22C Substitution - Missense Kidney COSM5940039 JMJD1C c.5606C>T p.P1869L Substitution - Missense Skin COSM4043884 MBD6 c.838G>A p.A280T Substitution - Missense Large_intestine COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM142310 ASXL1 c.1927_1928insA p.G643fs*15 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM365942 PRDM16 c.360G>A p.A120A Substitution - coding silent Lung COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM464485 ZMYM1 c.1536G>A p.K512K Substitution - coding silent Kidney COSM3946380 GABRG1 c.1385A>T p.Y462F Substitution - Missense Lung COSM3963186 KDM3A c.1006G>C p.G336R Substitution - Missense Lung COSM88763 CREBBP c.4078C>T p.R1360* Substitution - Nonsense Skin COSM1618332 PRDM5 c.1554A>G p.Q518Q Substitution - coding silent Liver COSM387825 SND1 c.2133G>T p.M711I Substitution - Missense Lung COSM1061234 BRD8 c.2995G>A p.E999K Substitution - Missense Endometrium COSM5999292 KAT6B c.1688C>T p.P563L Substitution - Missense Prostate COSM1017583 SP110 c.1512C>T p.V504V Substitution - coding silent Large_intestine COSM1017583 SP110 c.1512C>T p.V504V Substitution - coding silent Endometrium COSM1187925 EPC1 c.1201C>G p.P401A Substitution - Missense Lung COSM4000331 CHD3 c.3462T>C p.F1154F Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1177280 TDRD6 c.819G>A p.S273S Substitution - coding silent Biliary_tract COSM3804984 PRDM16 c.2280C>T p.D760D Substitution - coding silent Breast COSM5746873 CHD7 c.467T>C p.I156T Substitution - Missense Pancreas COSM379628 ASXL3 c.1865C>G p.P622R Substitution - Missense Lung COSM5483340 PHC3 c.1539C>T p.S513S Substitution - coding silent Large_intestine COSM1028995 DIDO1 c.1271C>T p.A424V Substitution - Missense Endometrium COSM4523036 EPC1 c.1195G>A p.D399N Substitution - Missense Skin COSM4450845 SP140_ENST00000392045 c.892+2T>C p.? Unknown Skin COSM225885 KMT2C c.1139G>T p.R380L Substitution - Missense Pancreas COSM1577224 MEN1 c.415C>T p.H139Y Substitution - Missense Parathyroid COSM296455 BRD9 c.739G>A p.E247K Substitution - Missense Large_intestine COSM1055653 GABRG1 c.70G>A p.V24I Substitution - Missense Endometrium COSM4618070 ZGPAT c.623G>A p.R208H Substitution - Missense Large_intestine COSM3724508 DNMT3A c.? p.G673S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5992207 ARID1A c.2812G>A p.A938T Substitution - Missense Prostate COSM3363249 CHD6 c.3220G>C p.D1074H Substitution - Missense Kidney COSM264225 TRRAP c.8422C>T p.R2808* Substitution - Nonsense Pituitary COSM1469597 BRWD3 c.1565C>T p.S522L Substitution - Missense Large_intestine COSM5481436 SMCHD1 c.2705C>A p.P902H Substitution - Missense Large_intestine COSM88749 CREBBP c.4336C>T p.R1446C Substitution - Missense Cervix COSM1756087 PSIP1 c.56C>T p.P19L Substitution - Missense Urinary_tract COSM1600688 PRDM2 c.1794A>G p.I598M Substitution - Missense Liver COSM5693541 BAZ2B c.5899A>G p.T1967A Substitution - Missense Soft_tissue COSM170344 ASH1L c.6217C>T p.R2073C Substitution - Missense Skin COSM1476760 BAZ2A c.3176G>A p.R1059Q Substitution - Missense Breast COSM1025807 DNMT3B c.1879G>A p.D627N Substitution - Missense Endometrium COSM1327173 HDAC10 c.1657G>A p.G553S Substitution - Missense Ovary COSM29149 KDM6A c.2929C>A p.L977I Substitution - Missense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4384255 EZH2 c.1981A>G p.K661E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3407643 SP110 c.1393C>A p.P465T Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1718089 ARID1A c.6416C>A p.P2139H Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5039783 ING3 c.787G>A p.G263R Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1411072 ASXL1 c.1698G>A p.E566E Substitution - coding silent Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM389580 PHIP c.1987G>T p.V663F Substitution - Missense Lung COSM88748 CREBBP c.4337G>A p.R1446H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1009 SMARCB1 c.897G>A p.S299S Substitution - coding silent Soft_tissue COSM2834946 CHD9 c.7938A>T p.A2646A Substitution - coding silent Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1416320 CBX7 c.555G>A p.A185A Substitution - coding silent Large_intestine COSM24904 HNF1A c.653A>G p.Y218C Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1049151 BRPF1 c.3075G>T p.T1025T Substitution - coding silent Endometrium COSM1018600 ATAD2B_ENST00000238789 c.4338G>T p.E1446D Substitution - Missense Endometrium COSM4960038 SMYD3 c.564G>A p.E188E Substitution - coding silent Liver COSM1607642 BAZ1A c.165T>C p.A55A Substitution - coding silent Liver COSM3858400 EYA4 c.340G>A p.D114N Substitution - Missense Stomach COSM1621420 TCF19 c.987C>A p.A329A Substitution - coding silent Liver COSM3784000 PHF3 c.2556G>A p.Q852Q Substitution - coding silent Prostate COSM5879005 TET2 c.3247C>T p.Q1083* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4626377 BRD3 c.849C>G p.G283G Substitution - coding silent Large_intestine COSM1303091 AKAP1 c.2501-1G>T p.? Unknown Urinary_tract COSM158615 DNMT3A c.2168delT p.L723fs*56 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1446614 ACTL6B c.135C>T p.A45A Substitution - coding silent Large_intestine COSM4566713 PCGF1 c.415_416CC>TT p.P139F Substitution - Missense Skin COSM22040 NCOA5 c.1682C>T p.T561I Substitution - Missense Skin COSM396358 ERCC6 c.871A>T p.N291Y Substitution - Missense Lung COSM1413976 SETD4 c.172A>G p.T58A Substitution - Missense Large_intestine COSM3875087 PHF3 c.3099T>C p.H1033H Substitution - coding silent Stomach COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM46456 TET2 c.1669C>T p.Q557* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM6018269 EP300 c.3259C>T p.P1087S Substitution - Missense Skin COSM87007 DNMT3A c.2711C>T p.P904L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5451149 ASH1L c.773G>A p.G258D Substitution - Missense Large_intestine COSM5731415 NIPBL c.6556_6558delGAA p.E2187delE Deletion - In frame Central_nervous_system COSM1583104 DNMT3A c.2120G>T p.G707V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM267251 PRDM16 c.1719G>T p.A573A Substitution - coding silent Large_intestine COSM4383970 TET2 c.5641C>T p.H1881Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4140766 TTF2 c.2979T>A p.I993I Substitution - coding silent Kidney COSM80758 ZBTB4 c.1917C>T p.D639D Substitution - coding silent Ovary COSM907950 EYA3 c.1044T>G p.F348L Substitution - Missense Endometrium COSM372008 TIF1 c.1481G>A p.G494E Substitution - Missense Lung COSM723885 PHF20 c.1122G>T p.L374F Substitution - Missense Lung COSM3619209 PRDM1 c.2164G>A p.E722K Substitution - Missense Skin COSM1319763 ATAD2 c.2770C>T p.P924S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3092504 PHF8 c.1528G>C p.E510Q Substitution - Missense Upper_aerodigestive_tract COSM678671 SMYD2 c.197G>T p.G66V Substitution - Missense Lung COSM4963432 BRWD3 c.2472A>T p.S824S Substitution - coding silent Pancreas COSM339037 MUM1 c.755C>A p.A252E Substitution - Missense Lung COSM4700979 MBD5 c.751A>G p.T251A Substitution - Missense Large_intestine COSM2064411 TDG c.246delA p.K84fs*21 Deletion - Frameshift Large_intestine COSM4767393 ATRX c.6253C>T p.R2085C Substitution - Missense Adrenal_gland COSM1109453 KIAA2026_ENST00000399933 c.3430A>C p.N1144H Substitution - Missense Endometrium COSM979411 KAT2A c.1993T>C p.S665P Substitution - Missense Endometrium COSM149089 SP110 c.383C>T p.A128V Substitution - Missense Prostate COSM367932 BRWD3 c.3956G>T p.R1319L Substitution - Missense Prostate COSM1625942 HDAC6 c.1973A>T p.H658L Substitution - Missense Liver COSM4856350 AP001011.3_ENST00000320876 c.1233T>C p.F411F Substitution - coding silent Cervix COSM1053 SMARCB1 c.146C>A p.S49* Substitution - Nonsense Prostate COSM1209425 HDGF c.400G>A p.D134N Substitution - Missense Liver COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM22570 MEN1 c.266T>G p.L89R Substitution - Missense Lung COSM37030 EZH2 c.1936T>C p.Y646H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43499 TET2 c.5693C>T p.S1898F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41716 ASXL1 c.1888_1909del22 p.H630fs*66 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53200 ASXL1 c.1773C>G p.Y591* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM48571 KMT2A c.8017A>T p.T2673S Substitution - Missense Lung COSM81846 TRRAP c.9987G>T p.V3329V Substitution - coding silent Ovary COSM87138 TET2 c.3893G>A p.C1298Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM100060 TET2 c.1033_1036delAAGC p.K345fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM112121 PRDM2 c.2104_2105insCTC p.P703_A704insP Insertion - In frame Central_nervous_system COSM96934 ATRX c.5408G>A p.R1803H Substitution - Missense Central_nervous_system COSM122020 TDG c.387C>A p.T129T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM122355 CREBBP c.2849C>T p.T950M Substitution - Missense Upper_aerodigestive_tract COSM130346 ZMYM1 c.3426A>G p.I1142M Substitution - Missense Upper_aerodigestive_tract COSM144627 PHF6 c.600_600delA p.H201fs*17 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM166405 CREBBP c.4232G>A p.G1411E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM184628 ZCWPW2 c.429C>T p.G143G Substitution - coding silent Stomach COSM250043 ATRX c.4145_4146delCT p.S1382fs*1 Deletion - Frameshift Central_nervous_system COSM226478 TDRD5 c.1663G>A p.E555K Substitution - Missense Skin COSM265913 PHF17 c.1560C>G p.C520W Substitution - Missense Large_intestine COSM277233 SETBP1 c.2816A>T p.K939M Substitution - Missense Large_intestine COSM271570 TIF1 c.2429G>A p.C810Y Substitution - Missense Large_intestine COSM299127 CHD7 c.3791A>C p.K1264T Substitution - Missense Large_intestine COSM306815 ARID2 c.4573_4576GAAA>GAA p.E1525fs Complex Central_nervous_system COSM318347 CREBBP c.4232G>T p.G1411V Substitution - Missense Lung COSM321332 L3MBTL3 c.1129C>A p.L377I Substitution - Missense Lung COSM326329 RBBP5 c.1105G>C p.A369P Substitution - Missense Lung COSM347790 KMT2A c.2854G>C p.D952H Substitution - Missense Lung COSM363221 MTA2 c.1375A>G p.T459A Substitution - Missense Lung COSM428707 PRDM10 c.3227C>T p.A1076V Substitution - Missense Breast COSM460904 ZBTB38 c.1430G>C p.R477T Substitution - Missense Cervix COSM488456 KDM5C c.3329C>G p.S1110* Substitution - Nonsense Kidney COSM529268 ASH1L c.2902A>T p.K968* Substitution - Nonsense Adrenal_gland COSM693712 KMT2D c.13900C>T p.R4634* Substitution - Nonsense Large_intestine COSM1012902 ASXL1 c.1855_1865del11 p.R620fs*11 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM921722 HELLS c.2291A>C p.N764T Substitution - Missense Endometrium COSM920537 KAT6B c.5117A>G p.Y1706C Substitution - Missense Endometrium COSM709525 SETBP1 c.2180G>T p.R727L Substitution - Missense Lung COSM708168 AP001011.3_ENST00000320876 c.4008G>T p.R1336S Substitution - Missense Lung COSM910655 ORC1 c.1001G>T p.R334I Substitution - Missense Endometrium COSM924942 PRDM10 c.3103_3105delCAG p.Q1035delQ Deletion - In frame Endometrium COSM935974 HNF1A c.862delG p.P291fs*51 Deletion - Frameshift Endometrium COSM1101420 NCOA2 c.1008C>A p.I336I Substitution - coding silent Endometrium COSM1162748 BRD9 c.928A>T p.M310L Substitution - Missense Central_nervous_system COSM1216518 MYST1 c.20C>A p.A7D Substitution - Missense Large_intestine COSM1221878 PRDM14 c.795T>G p.H265Q Substitution - Missense Large_intestine COSM1161162 CREBBP c.4508A>C p.Y1503S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1300265 TDRD3 c.224C>G p.S75* Substitution - Nonsense Urinary_tract COSM1290503 SRCAP c.311C>T p.A104V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1325378 GATAD2A c.97G>A p.A33T Substitution - Missense Ovary COSM1331398 MORF4L2 c.722A>C p.Y241S Substitution - Missense Ovary COSM1375558 CHD2 c.5008T>C p.Y1670H Substitution - Missense Large_intestine COSM1348072 ERCC6 c.3042G>T p.Q1014H Substitution - Missense Large_intestine COSM1518572 GTF3C1 c.3573G>A p.W1191* Substitution - Nonsense Skin COSM1624022 MYST3 c.4772G>T p.G1591V Substitution - Missense Liver COSM1705491 ARID2 c.3298C>T p.Q1100* Substitution - Nonsense Skin COSM1660109 KAT2A c.1237G>A p.G413R Substitution - Missense Kidney COSM1665076 ZCWPW2 c.516G>C p.K172N Substitution - Missense Kidney COSM1728167 PHF16 c.2131C>T p.H711Y Substitution - Missense Liver COSM1748567 PHF13 c.600C>T p.I200I Substitution - coding silent Urinary_tract COSM2739021 NCOR1 c.2833C>T p.P945S Substitution - Missense Large_intestine COSM2819129 PRDM15 c.1837delG p.E613fs*35 Deletion - Frameshift Large_intestine COSM2874517 PRDM14 c.1250A>C p.K417T Substitution - Missense Large_intestine COSM3017626 SHPRH c.1987T>C p.C663R Substitution - Missense Large_intestine COSM3138105 PHF15 c.1177C>T p.R393C Substitution - Missense Central_nervous_system COSM3172762 L3MBTL3 c.426T>C p.N142N Substitution - coding silent Large_intestine COSM3255761 PHF14 c.1296C>T p.N432N Substitution - coding silent Large_intestine COSM3344886 C5orf35 c.640A>G p.T214A Substitution - Missense Stomach COSM3422598 DOT1L c.1260G>A p.A420A Substitution - coding silent Large_intestine COSM3439573 JMJD1C c.5653C>T p.P1885S Substitution - Missense Skin COSM3465559 APOBEC1 c.126C>T p.I42I Substitution - coding silent Skin COSM3458226 EP400 c.2950C>T p.P984S Substitution - Missense Skin COSM3464576 YEATS4 c.407C>T p.S136L Substitution - Missense Skin COSM3512612 CDYL2 c.336C>T p.P112P Substitution - coding silent Skin COSM3660036 UTY c.3671T>A p.M1224K Substitution - Missense Liver COSM3711336 ZMYM4 c.1178C>A p.S393* Substitution - Nonsense Upper_aerodigestive_tract COSM3713445 BRWD1 c.2867C>T p.P956L Substitution - Missense Upper_aerodigestive_tract COSM3738180 SMARCA1 c.1449C>A p.S483R Substitution - Missense Soft_tissue COSM3746025 KDM4C c.1203T>A p.P401P Substitution - coding silent Liver COSM3781541 L3MBTL3 c.348G>A p.G116G Substitution - coding silent Pancreas COSM3811286 SETD1B c.2298G>A p.Q766Q Substitution - coding silent Breast COSM3936745 MGA c.5428C>T p.R1810* Substitution - Nonsense Oesophagus COSM3925532 PRDM14 c.1156G>A p.G386R Substitution - Missense Skin COSM3883764 TRRAP c.8895C>T p.D2965D Substitution - coding silent Stomach COSM3873165 DAXX c.1615G>C p.A539P Substitution - Missense Stomach COSM3974723 PHF17 c.1038C>T p.G346G Substitution - coding silent Central_nervous_system COSM4021542 PRDM2 c.1217G>A p.R406Q Substitution - Missense Stomach COSM4095553 SMYD5 c.249T>C p.N83N Substitution - coding silent Stomach COSM4061908 CTCF c.1951C>T p.R651W Substitution - Missense Stomach COSM4163688 SMARCA2 c.699G>A p.Q233Q Substitution - coding silent Thyroid COSM42038 TET2 c.3579T>G p.C1193W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4170044 TET2 c.4100C>G p.P1367R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4170439 KMT2D c.4973-2A>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4385237 EP300 c.764C>T p.S255L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4398980 DNMT1 c.1941C>T p.A647A Substitution - coding silent Skin COSM4593164 EP400 c.6637A>C p.T2213P Substitution - Missense Upper_aerodigestive_tract COSM4469298 TRIM28 c.1592C>T p.T531I Substitution - Missense Skin COSM4476608 SIRT5 c.207C>T p.T69T Substitution - coding silent Skin COSM4410937 BAP1 c.553G>A p.G185R Substitution - Missense Kidney COSM4666091 BRD3 c.899A>C p.Q300P Substitution - Missense Large_intestine COSM4694876 KDM2A c.3181C>T p.R1061C Substitution - Missense Large_intestine COSM4664726 ATXN7 c.2246C>T p.T749M Substitution - Missense Large_intestine COSM4689675 HDAC4 c.2430-1G>A p.? Unknown Large_intestine COSM4694075 MYST1 c.741C>T p.S247S Substitution - coding silent Large_intestine COSM4620318 KDM2B c.831C>A p.G277G Substitution - coding silent Large_intestine COSM4776823 NCOA7 c.1882G>A p.E628K Substitution - Missense Breast COSM4610146 ZBTB33 c.1262C>T p.A421V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4606367 PHF6 c.385C>T p.R129* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4761254 MBD4 c.1437G>T p.W479C Substitution - Missense Stomach COSM4797487 KDM6A c.3725G>A p.G1242D Substitution - Missense Liver COSM4794725 TRIM66 c.1753G>A p.A585T Substitution - Missense Liver COSM4891264 DIDO1 c.6297G>T p.P2099P Substitution - coding silent Upper_aerodigestive_tract COSM4917486 KMT2A c.10709C>T p.P3570L Substitution - Missense Liver COSM4913154 DIDO1 c.5487T>C p.S1829S Substitution - coding silent Liver COSM4940440 TCF20 c.3322G>C p.V1108L Substitution - Missense Liver COSM4961422 ASXL3 c.355G>A p.A119T Substitution - Missense Liver COSM4951062 MBD1 c.995G>A p.R332H Substitution - Missense Liver COSM5002693 SFMBT2 c.479G>A p.R160H Substitution - Missense Pancreas COSM4974705 SMARCA4 c.1908C>T p.A636A Substitution - coding silent Oesophagus COSM5004450 CREBBP c.4322G>C p.R1441P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5023360 L3MBTL3 c.1933G>A p.E645K Substitution - Missense Bone COSM5051296 PRDM4 c.836G>T p.G279V Substitution - Missense Stomach COSM5221050 SETD2 c.5095C>T p.P1699S Substitution - Missense Skin COSM5047700 PBRM1 c.3328G>T p.E1110* Substitution - Nonsense Oesophagus COSM5039695 ARID2 c.3458G>A p.G1153D Substitution - Missense Liver COSM5347715 PCGF1 c.403_408delAACCTC p.N135_L136delNL Deletion - In frame Liver COSM5370104 TDRD1 c.2474G>A p.G825E Substitution - Missense Skin COSM5510125 JARID2 c.664G>A p.G222R Substitution - Missense Biliary_tract COSM5486397 TET2 c.2642G>T p.R881M Substitution - Missense Large_intestine COSM5481657 BAZ2B c.1926T>C p.D642D Substitution - coding silent Large_intestine COSM5431629 KMT2D c.13770delT p.F4590fs*10 Deletion - Frameshift Oesophagus COSM5458876 MBD5 c.2457C>T p.S819S Substitution - coding silent Large_intestine COSM5416802 PYGO2 c.711G>A p.L237L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5645099 ASH1L c.4333A>T p.K1445* Substitution - Nonsense Oesophagus COSM5751937 IDH2 c.222_223insA p.V75fs*9 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5656299 KMT2D c.12968G>A p.G4323E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5756751 EYA4 c.91G>C p.E31Q Substitution - Missense Large_intestine COSM5735452 RAD54L c.835C>T p.R279C Substitution - Missense Small_intestine COSM5719279 RAD54L c.160C>T p.P54S Substitution - Missense Skin COSM5617402 KMT2C c.3842-5G>C p.? Unknown Lung COSM5609215 KDM6A c.777G>T p.L259L Substitution - coding silent Skin COSM5615287 SETD2 c.2726_2729delAGAG p.E909fs*19 Deletion - Frameshift Breast COSM5595488 TRRAP c.6507C>T p.L2169L Substitution - coding silent Skin COSM5609775 PBRM1 c.3957A>G p.L1319L Substitution - coding silent Skin COSM5585481 INOC1 c.2847C>T p.F949F Substitution - coding silent Skin COSM5674971 ATRX c.2923G>A p.D975N Substitution - Missense Soft_tissue COSM5749229 RUVBL1 c.1259A>G p.N420S Substitution - Missense Genital_tract COSM5706756 CXXC1 c.1030C>T p.R344* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5878759 DNMT3A c.2278delG p.A760fs*19 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5944310 KMT2C c.2506delT p.S836fs*18 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5891647 ZMYM1 c.1792G>A p.G598R Substitution - Missense Skin COSM5886572 ATAD2 c.2447C>T p.A816V Substitution - Missense Skin COSM5921048 SRCAP c.1019C>T p.P340L Substitution - Missense Skin COSM5986584 BRWD1 c.5438_5439insA p.F1813fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM6011189 MBD4 c.173G>T p.S58I Substitution - Missense Skin COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM914371 ASXL1 c.? p.(574_1542)fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM4169392 ARID1A c.? p.P1569L Substitution - Missense Skin COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5182457 ING1 c.409G>A p.E137K Substitution - Missense Large_intestine COSM4403288 UHRF1 c.383C>T p.A128V Substitution - Missense Skin COSM5718770 ASXL3 c.1090G>A p.E364K Substitution - Missense Skin COSM5894078 DIDO1 c.4072C>T p.P1358S Substitution - Missense Skin COSM5048169 L3MBTL3 c.2270G>A p.G757D Substitution - Missense Oesophagus COSM3665403 ARID2 c.2292_2313del22 p.H765fs*20 Deletion - Frameshift Liver COSM5019040 ERCC6 c.1196G>A p.G399D Substitution - Missense Soft_tissue COSM4993884 BAHCC1 c.5491G>A p.V1831M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM464625 SCMH1 c.399C>A p.N133K Substitution - Missense Kidney COSM122851 EP300 c.4195G>A p.D1399N Substitution - Missense Large_intestine COSM3547335 EYA2 c.687T>G p.P229P Substitution - coding silent Skin COSM3508224 GTF3C1 c.3040C>T p.L1014L Substitution - coding silent Skin COSM4605535 PBRM1 c.519G>A p.V173V Substitution - coding silent Upper_aerodigestive_tract COSM896936 ASH1L c.2538T>A p.T846T Substitution - coding silent Endometrium COSM4843980 SETBP1 c.2875G>A p.E959K Substitution - Missense Cervix COSM4794860 SETD2 c.5922+1G>A p.? Unknown Liver COSM3523214 KDM6B c.2513C>T p.S838F Substitution - Missense Skin COSM1329576 PHF3 c.1022C>A p.S341Y Substitution - Missense Ovary COSM5986983 VPS72 c.843G>C p.G281G Substitution - coding silent Salivary_gland COSM5613457 RSF1 c.1760A>T p.K587M Substitution - Missense Lung COSM696354 TDRD3 c.76C>T p.L26L Substitution - coding silent Lung COSM249560 KMT2C c.5053G>T p.A1685S Substitution - Missense Prostate COSM1716777 TET2 c.? p.Q324* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1241759 SMARCA4 c.2654G>A p.R885H Substitution - Missense Pancreas COSM430521 HNF1A c.51C>G p.L17L Substitution - coding silent Liver COSM119878 ACTR6 c.176C>A p.P59H Substitution - Missense Ovary COSM1720211 RAG2 c.1118G>A p.G373E Substitution - Missense Skin COSM87011 DNMT3A c.2141C>G p.S714C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4147408 CHD4 c.1006A>C p.T336P Substitution - Missense Upper_aerodigestive_tract COSM1125489 ATRX c.2407A>C p.I803L Substitution - Missense Endometrium COSM4146851 EP400 c.6582C>A p.S2194R Substitution - Missense Thyroid COSM1726117 MYST2 c.1480A>G p.S494G Substitution - Missense Liver COSM5748999 PBRM1 c.2005G>C p.V669L Substitution - Missense Pancreas COSM4706982 NIPBL c.4660G>A p.G1554S Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4822266 TCF20 c.2113C>G p.L705V Substitution - Missense Cervix COSM2265135 ZMYM5 c.553C>T p.Q185* Substitution - Nonsense Upper_aerodigestive_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM4904923 TAF1L c.2065G>A p.D689N Substitution - Missense Skin COSM1722309 MYST3 c.5079A>C p.P1693P Substitution - coding silent Urinary_tract COSM3631661 MLL5 c.5244A>G p.P1748P Substitution - coding silent Skin COSM87153 TET2 c.4097G>A p.R1366H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Biliary_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Small_intestine COSM3718058 SMARCA4 c.3910C>T p.Q1304* Substitution - Nonsense Liver COSM3370164 MGA c.9209T>G p.V3070G Substitution - Missense Thyroid COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM5626250 TFPT c.477G>A p.E159E Substitution - coding silent Oesophagus COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5037511 KDM3B c.2698C>T p.Q900* Substitution - Nonsense Skin COSM1027520 ZMYND8 c.2440G>A p.A814T Substitution - Missense Endometrium COSM1738321 RAI1 c.825C>G p.S275R Substitution - Missense Ovary COSM5942972 LBR c.893-4_893-3insT p.? Unknown Skin COSM3803010 TDRD5 c.1247C>T p.P416L Substitution - Missense Breast COSM5619284 ASH1L c.4629C>G p.L1543L Substitution - coding silent Breast COSM954433 CHD8 c.4009C>T p.R1337* Substitution - Nonsense Endometrium COSM3972136 ATAD2B_ENST00000238789 c.3306G>C p.R1102R Substitution - coding silent Central_nervous_system COSM1026707 ACTR5 c.1580C>T p.S527L Substitution - Missense Endometrium COSM352463 BAZ2A c.503A>T p.Q168L Substitution - Missense Lung COSM5062072 MLL5 c.2514C>A p.P838P Substitution - coding silent Stomach COSM1363345 MBD6 c.2074delC p.Q694fs*5 Deletion - Frameshift Large_intestine COSM3808471 KMT2A c.1325G>A p.R442Q Substitution - Missense Pancreas COSM3664321 KIAA1045 c.411G>A p.E137E Substitution - coding silent Liver COSM369425 PRMT7 c.464C>T p.A155V Substitution - Missense Stomach COSM1239175 JARID2 c.1266delG p.R425fs*36 Deletion - Frameshift Oesophagus COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1748363 PHC2 c.6G>C p.E2D Substitution - Missense Urinary_tract COSM1682739 ATRX c.6938T>G p.L2313W Substitution - Missense Large_intestine COSM4591233 NCOR1 c.534G>C p.K178N Substitution - Missense Upper_aerodigestive_tract COSM1465521 SMARCA1 c.169_171delAAG p.K57delK Deletion - In frame Biliary_tract COSM21190 TAF1 c.1951G>A p.E651K Substitution - Missense Skin COSM71772 MYST3 c.1753G>A p.V585M Substitution - Missense Ovary COSM3828971 NCOA7 c.810C>T p.C270C Substitution - coding silent Breast COSM5577582 MECOM c.1568C>T p.P523L Substitution - Missense Skin COSM5775422 MORF4L1 c.259C>T p.L87F Substitution - Missense Breast COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM907734 ARID1A c.5138T>C p.L1713P Substitution - Missense Endometrium COSM3483229 SMYD2 c.120C>T p.A40A Substitution - coding silent Skin COSM5581149 FTO c.1384C>T p.R462* Substitution - Nonsense Skin COSM472369 RAI1 c.451G>A p.V151M Substitution - Missense Kidney COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1624905 TAF1L c.2848C>A p.P950T Substitution - Missense Liver COSM3525414 ASXL3 c.442G>A p.D148N Substitution - Missense Skin COSM1666862 ARID1A c.? p.? Unknown Endometrium COSM1341891 PRDM16 c.3283C>T p.R1095W Substitution - Missense Large_intestine COSM4837479 PRMT5 c.792C>T p.F264F Substitution - coding silent Cervix COSM2164481 MEN1 c.939T>A p.Y313* Substitution - Nonsense Prostate COSM5800280 SMARCD1 c.730A>T p.T244S Substitution - Missense Breast COSM2154961 HDAC4 c.583A>C p.I195L Substitution - Missense Central_nervous_system COSM1583044 TET2 c.? p.N535fs*6 Frameshift Haematopoietic_and_lymphoid_tissue COSM5572838 SETDB1 c.2337T>A p.Y779* Substitution - Nonsense Prostate COSM4532396 APOBEC1 c.187G>A p.E63K Substitution - Missense Skin COSM5967516 MSH6 c.? p.K247fs*32 Frameshift Endometrium COSM4732907 TDRD6 c.432C>T p.G144G Substitution - coding silent Large_intestine COSM4411250 DPF1 c.739A>T p.I247F Substitution - Missense Kidney COSM4099356 ADNP c.790C>A p.R264R Substitution - coding silent Stomach COSM4766172 TET2 c.2578C>T p.Q860* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4494732 SIRT7 c.438C>T p.T146T Substitution - coding silent Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM303879 CTCF c.1130G>A p.R377H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM345782 PRDM13 c.214C>A p.R72R Substitution - coding silent Lung COSM1107173 EHMT1 c.1012G>A p.A338T Substitution - Missense Endometrium COSM3828013 NIPBL c.5926G>C p.D1976H Substitution - Missense Breast COSM5599939 KMT2D c.1855C>T p.P619S Substitution - Missense Skin COSM3981068 JMJD1C c.3481G>C p.V1161L Substitution - Missense Ovary COSM4085350 MBD5 c.3633G>A p.K1211K Substitution - coding silent Stomach COSM1741513 KDM6A c.384+1G>A p.? Unknown Urinary_tract COSM3405019 DNMT3B c.129C>T p.T43T Substitution - coding silent Central_nervous_system COSM3885737 MTA1 c.2122G>A p.D708N Substitution - Missense Skin COSM4694073 MYST1 c.508C>G p.H170D Substitution - Missense Large_intestine COSM5658694 TAF3 c.1868G>T p.R623I Substitution - Missense Soft_tissue COSM5700093 KDM5C c.229-1G>A p.? Unknown Soft_tissue COSM1632327 EYA2 c.1199G>A p.G400E Substitution - Missense Liver COSM970588 CREBBP c.3114A>G p.I1038M Substitution - Missense Endometrium COSM355023 KDM2B c.317G>A p.R106Q Substitution - Missense Lung COSM3589875 MECOM c.1474G>A p.G492R Substitution - Missense Skin COSM3841205 EYA2 c.190A>C p.T64P Substitution - Missense Breast COSM3525416 ASXL3 c.478G>A p.E160K Substitution - Missense Skin COSM3824895 TET2 c.4045-1G>C p.? Unknown Breast COSM4852539 PHF20 c.271G>C p.E91Q Substitution - Missense Cervix COSM5605103 TDRD5 c.1057C>T p.H353Y Substitution - Missense Skin COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4564660 ZMYND8 c.1334_1335CC>TT p.S445F Substitution - Missense Skin COSM3358841 SFMBT2 c.1671G>T p.P557P Substitution - coding silent Kidney COSM52915 BAP1 c.573_580+15del8 p.? Unknown Eye COSM5016009 BAP1 c.1984-3_1984delCAGA p.? Unknown Kidney COSM3642818 TRRAP c.8204C>T p.S2735F Substitution - Missense Skin COSM5689218 PHF20 c.1767G>T p.M589I Substitution - Missense Liver COSM3754135 ALKBH1 c.996C>T p.S332S Substitution - coding silent Large_intestine COSM328564 NIPBL c.423T>A p.N141K Substitution - Missense Kidney COSM5026461 NSD1 c.3781G>A p.E1261K Substitution - Missense Breast COSM4505872 SIRT6 c.703C>T p.R235C Substitution - Missense Skin COSM6008817 PRMT2 c.180delG p.R61fs*49 Deletion - Frameshift Prostate COSM1314713 SMARCA2 c.1680G>T p.R560S Substitution - Missense Urinary_tract COSM1685363 SETBP1 c.2618C>G p.T873R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4008296 KDM4A c.666C>T p.L222L Substitution - coding silent Stomach COSM3821368 ASXL3 c.2577G>T p.M859I Substitution - Missense Breast COSM4433254 KDM6A c.3060C>G p.I1020M Substitution - Missense Oesophagus COSM100082 KMT2C c.8390_8390delA p.K2797fs*26 Deletion - Frameshift Large_intestine COSM4574633 MEN1 c.868G>C p.E290Q Substitution - Missense Bone COSM4536357 PRDM1 c.2183G>A p.R728K Substitution - Missense Skin COSM226845 EYA2 c.878G>A p.R293K Substitution - Missense Skin COSM748319 TRRAP c.10308C>A p.C3436* Substitution - Nonsense Lung COSM426009 ARID1A c.5747C>G p.S1916C Substitution - Missense Breast COSM1159235 SHPRH c.2313C>T p.T771T Substitution - coding silent Pancreas COSM4383865 TET2 c.2665delA p.K889fs*32 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5992312 BRDT c.2288-8G>A p.? Unknown Prostate COSM5878503 ARID2 c.2324T>A p.L775* Substitution - Nonsense Liver COSM85803 DAXX c.2120_2120delC p.Q708fs*34 Deletion - Frameshift Pancreas COSM3672753 BRD4 c.912C>A p.H304Q Substitution - Missense Prostate COSM1074180 SHPRH c.4608C>T p.L1536L Substitution - coding silent Endometrium COSM255035 ZMYND8 c.1175A>C p.N392T Substitution - Missense Urinary_tract COSM918657 ERCC6 c.2944T>G p.L982V Substitution - Missense Endometrium COSM5704469 KMT2D c.14251C>T p.R4751* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4570742 BAZ1B c.312T>G p.D104E Substitution - Missense Skin COSM328978 KMT2C c.8390delA p.K2797fs*26 Deletion - Frameshift Stomach COSM4746225 ORC1 c.917A>G p.D306G Substitution - Missense Central_nervous_system COSM252994 EPC1 c.1243-4delT p.? Unknown Ovary COSM3856797 BRD9 c.658C>T p.R220W Substitution - Missense Stomach COSM330640 EZH2 c.? p.S76* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2965442 KDM6A c.3331C>T p.R1111C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3615948 NIPBL c.3172G>A p.E1058K Substitution - Missense Skin COSM1301912 MYST1 c.1077C>T p.L359L Substitution - coding silent Urinary_tract COSM1072916 NCOA7 c.644A>G p.E215G Substitution - Missense Endometrium COSM4965766 ARID1A c.5848C>T p.R1950W Substitution - Missense Pancreas COSM5711700 KDM5C c.4441A>G p.R1481G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM136774 BMI1 c.782C>T p.P261L Substitution - Missense Skin COSM4579468 NCOR1 c.3504C>T p.G1168G Substitution - coding silent Bone COSM1284109 CHD6 c.3477C>T p.I1159I Substitution - coding silent Autonomic_ganglia COSM3378086 NCOR1 c.2249C>T p.A750V Substitution - Missense Pancreas COSM5484689 WHSC1 c.3474C>T p.D1158D Substitution - coding silent Large_intestine COSM3357449 KDM5C c.2721G>A p.R907R Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1684498 SUZ12 c.2148_2154delCTCAAAA p.N716fs*>22 Deletion - Frameshift Lung COSM1685867 NCOA1 c.3715C>T p.P1239S Substitution - Missense Skin COSM3973067 MORF4L2 c.100A>G p.M34V Substitution - Missense Central_nervous_system COSM5702627 BAP1 c.?_?del? p.? Unknown Eye COSM1732390 KDM4A c.1885G>C p.E629Q Substitution - Missense Bone COSM3608990 KDM3B c.5039C>T p.A1680V Substitution - Missense Skin COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Biliary_tract COSM4111152 ATRX c.2567G>A p.S856N Substitution - Missense Stomach COSM5608369 EP300 c.7048G>C p.G2350R Substitution - Missense Skin COSM993 SMARCB1 c.601C>T p.R201* Substitution - Nonsense Central_nervous_system COSM480347 PBRM1 c.2578G>A p.E860K Substitution - Missense Kidney COSM4043660 BAZ2A_ENST00000379441 c.4817T>C p.L1606P Substitution - Missense Stomach COSM4833953 CHD7 c.2221G>A p.E741K Substitution - Missense Cervix COSM2965373 KDM6A c.2171T>C p.I724T Substitution - Missense Upper_aerodigestive_tract COSM3870928 HNF1A c.1019C>T p.P340L Substitution - Missense Skin COSM1719633 NCOR1 c.3485_3486GG>AA p.R1162Q Substitution - Missense Skin COSM1955327 EPC1 c.1038A>G p.P346P Substitution - coding silent Large_intestine COSM4967885 ATRX c.2431C>T p.Q811* Substitution - Nonsense Adrenal_gland COSM1167660 SP100 c.1188_1195+17del25 p.? Unknown Skin COSM5356977 NIPBL c.610+1G>T p.? Unknown Large_intestine COSM52999 EZH2 c.2187_2188insT p.D730fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1756984 SMARCA4 c.3470G>A p.R1157Q Substitution - Missense Urinary_tract COSM1051640 SMARCA5 c.3131G>A p.R1044Q Substitution - Missense Endometrium COSM3460960 ARID2 c.366T>G p.L122L Substitution - coding silent Skin COSM5990099 TET2 c.5542delT p.S1848fs*39 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4383831 TET2 c.2068C>T p.Q690* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1109561 KDM4C c.180C>T p.C60C Substitution - coding silent Endometrium COSM3667191 MBD6 c.830A>G p.N277S Substitution - Missense Liver COSM1180918 ASXL1 c.1927delG p.G645fs*58 Deletion - Frameshift Stomach COSM4978446 CHD9 c.4697G>T p.R1566L Substitution - Missense Oesophagus COSM5889577 PRDM2 c.2899C>T p.P967S Substitution - Missense Skin COSM4000327 CBX4 c.871T>C p.S291P Substitution - Missense Soft_tissue COSM225885 KMT2C c.1139G>T p.R380L Substitution - Missense Soft_tissue COSM120499 DNMT3A c.2638A>G p.M880V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5912252 KDM3B c.1388G>A p.R463K Substitution - Missense Skin COSM140099 CTCF c.1369C>T p.R457* Substitution - Nonsense Endometrium COSM4929589 NIPBL c.4894G>C p.G1632R Substitution - Missense Liver COSM4536847 SMYD4 c.2350G>T p.E784* Substitution - Nonsense Skin COSM3022409 ARID1B c.4857G>A p.W1619* Substitution - Nonsense Stomach COSM4447864 BAHCC1 c.5645G>A p.G1882E Substitution - Missense Skin COSM211692 TET2 c.2552_2552delC p.P851fs*22 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4538288 TAF1L c.2529G>A p.R843R Substitution - coding silent Skin COSM166345 DNMT3A c.? p.? Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5882692 GTF3C1 c.2462A>G p.E821G Substitution - Missense Breast COSM693684 KMT2D c.5840G>A p.R1947H Substitution - Missense Lung COSM4977962 KMT2D c.3394C>T p.H1132Y Substitution - Missense Oesophagus COSM1422142 KAT2B c.1907A>T p.Y636F Substitution - Missense Large_intestine COSM419988 SETD2 c.4462G>T p.E1488* Substitution - Nonsense Urinary_tract COSM53279 TET2 c.5449C>A p.H1817N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM21474 HNF1A c.710A>G p.N237S Substitution - Missense Liver COSM88208 IDH1 c.299G>A p.R100Q Substitution - Missense Central_nervous_system COSM4951286 WHSC1L1 c.800A>C p.K267T Substitution - Missense Liver COSM3859976 ARID1B c.3699G>T p.R1233R Substitution - coding silent Stomach COSM1685372 TET2 c.1259C>G p.S420* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1662349 KAT2A c.1400C>G p.T467S Substitution - Missense Kidney COSM1714901 KDM6A c.1789C>T p.H597Y Substitution - Missense Skin COSM4404560 EP300 c.3360T>C p.D1120D Substitution - coding silent Skin COSM5801188 SETD5_ENST00000402198 c.389-8_389-7insT p.? Unknown Breast COSM3421707 MBTD1 c.915C>T p.Y305Y Substitution - coding silent Large_intestine COSM4666141 BRDT c.2351C>T p.T784M Substitution - Missense Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1124805 ZMYM3 c.3011C>A p.P1004H Substitution - Missense Endometrium COSM5760720 ARID1A c.4050_4051ins13 p.P1355fs*94 Insertion - Frameshift Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM51998 TET2 c.? p.A1355* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4742889 ZMYM1 c.1772A>G p.E591G Substitution - Missense Large_intestine COSM5925333 BAZ1B c.1907C>T p.S636F Substitution - Missense Skin COSM4476764 BRD3 c.2095C>T p.P699S Substitution - Missense Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5048906 CHD2 c.2767G>T p.E923* Substitution - Nonsense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1752570 CAMKMT c.196G>C p.E66Q Substitution - Missense Urinary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM228110 KMT2C c.1042G>A p.D348N Substitution - Missense Soft_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM961212 BAHD1 c.1629C>T p.S543S Substitution - coding silent Endometrium COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3883714 TRRAP c.2918C>T p.A973V Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM488632 ATRX c.4709T>G p.F1570C Substitution - Missense Kidney COSM1045507 SETD2 c.60A>C p.E20D Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3943667 ALKBH3 c.501G>A p.E167E Substitution - coding silent Ovary COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM945770 MPHOSPH8 c.1973C>T p.A658V Substitution - Missense Endometrium COSM5347590 SETD2 c.5172_5178delACATGTG p.H1725fs*18 Deletion - Frameshift Liver COSM5512162 HDAC3 c.445G>A p.D149N Substitution - Missense Biliary_tract COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1132172 PRDM9 c.1162C>T p.H388Y Substitution - Missense Prostate COSM53023 EZH2 c.1712G>A p.C571Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM255445 CHD6 c.1640A>C p.Q547P Substitution - Missense Central_nervous_system COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1586684 CHD4 c.913C>T p.R305C Substitution - Missense Endometrium COSM4979130 RAD54L c.1000G>C p.E334Q Substitution - Missense Oesophagus COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM244265 EP400 c.6119C>T p.P2040L Substitution - Missense Prostate COSM3555055 TCF20 c.2444C>T p.P815L Substitution - Missense Skin COSM1158713 CTCF c.3G>T p.M1I Substitution - Missense Pancreas COSM4170077 ARID1B c.188_189insGC p.Q64fs*59 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3424853 KDM5C c.259G>A p.D87N Substitution - Missense Large_intestine COSM2188303 TP53BP1 c.3770T>C p.V1257A Substitution - Missense Large_intestine COSM2812130 SETBP1 c.3801C>T p.G1267G Substitution - coding silent Breast COSM3808055 HELLS c.151A>C p.K51Q Substitution - Missense Breast COSM4720042 RAG2 c.473G>A p.G158E Substitution - Missense Large_intestine COSM480367 PBRM1 c.2128C>T p.R710* Substitution - Nonsense Large_intestine COSM4824099 KMT2C c.6658C>T p.Q2220* Substitution - Nonsense Cervix COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Biliary_tract COSM132968 ASXL1 c.? p.E635fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM5887590 LMNA c.1720G>A p.G574R Substitution - Missense Upper_aerodigestive_tract COSM5357147 BAG6 c.904G>A p.D302N Substitution - Missense Large_intestine COSM131496 SMARCA4 c.4471C>T p.R1491* Substitution - Nonsense Central_nervous_system COSM5667467 TP53BP1 c.479C>T p.A160V Substitution - Missense Soft_tissue COSM1437307 NIPBL c.6513T>G p.D2171E Substitution - Missense Large_intestine COSM3362496 ASXL3 c.51A>T p.E17D Substitution - Missense Kidney COSM5593220 SND1 c.1576C>T p.R526C Substitution - Missense Skin COSM4612069 KAT2A c.928delC p.R310fs*110 Deletion - Frameshift Large_intestine COSM724841 DIDO1 c.5299C>T p.H1767Y Substitution - Missense Lung COSM23374 EED c.508G>A p.G170S Substitution - Missense Skin COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM30414 KDM3B c.1378G>A p.E460K Substitution - Missense Lung COSM33038 HDAC7 c.127G>A p.V43M Substitution - Missense Breast COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM76238 RING1 c.329T>G p.I110S Substitution - Missense Ovary COSM110414 SMARCB1 c.563C>T p.P188L Substitution - Missense Skin COSM87100 TET2 c.2305_2305delC p.Q769fs*44 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM96934 ATRX c.5408G>A p.R1803H Substitution - Missense Small_intestine COSM130067 UHRF1 c.14C>T p.A5V Substitution - Missense Upper_aerodigestive_tract COSM133017 ARID1A c.6420_6420delC p.F2141fs*59 Deletion - Frameshift Large_intestine COSM133027 ARID1A c.1585C>T p.Q529* Substitution - Nonsense Pancreas COSM133033 ASXL1 c.4189G>A p.G1397S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM145694 NSD1 c.6085A>G p.T2029A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM139093 SETBP1 c.2530G>A p.E844K Substitution - Missense Skin COSM229797 CHD8 c.3545G>A p.R1182Q Substitution - Missense Skin COSM230182 TAF3 c.1969C>G p.P657A Substitution - Missense Skin COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Skin COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Large_intestine COSM248902 TRRAP c.2446C>T p.R816W Substitution - Missense Large_intestine COSM255017 KDM6A c.1663C>T p.Q555* Substitution - Nonsense Urinary_tract COSM263601 SETBP1 c.3022C>T p.R1008C Substitution - Missense Large_intestine COSM303906 ASXL1 c.2389G>T p.E797* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM376841 PHF15 c.2137G>A p.E713K Substitution - Missense Lung COSM374587 ACTL6B c.780G>T p.Q260H Substitution - Missense Lung COSM381791 TAF3 c.612G>T p.T204T Substitution - coding silent Lung COSM379334 WHSC1 c.3295G>A p.E1099K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM400690 KMT2C c.944G>A p.G315D Substitution - Missense Lung COSM423089 PBRM1 c.2214_2222delCAATGAGCC p.Y738_P741>* Complex - deletion inframe Kidney COSM446045 FXR1 c.1388_1391delCCTC p.I465fs*52 Deletion - Frameshift Breast COSM458603 VPS72 c.218G>C p.G73A Substitution - Missense Cervix COSM987377 AP001011.3_ENST00000320876 c.911G>T p.R304I Substitution - Missense Endometrium COSM484379 PHIP c.4792T>C p.S1598P Substitution - Missense Kidney COSM1646550 CHD4 c.3775G>C p.D1259H Substitution - Missense Lung COSM690575 RSF1 c.1783T>C p.F595L Substitution - Missense Lung COSM954438 CHD8 c.3628C>T p.R1210W Substitution - Missense Endometrium COSM1027426 NCOA5 c.544C>T p.R182C Substitution - Missense Skin COSM937494 ATF7IP c.676G>A p.A226T Substitution - Missense Endometrium COSM1026885 CHD6 c.117C>T p.D39D Substitution - coding silent Endometrium COSM751039 CHD7 c.6804T>A p.F2268L Substitution - Missense Lung COSM710130 SMARCA4 c.1562G>C p.R521P Substitution - Missense Lung COSM739991 SIRT5 c.405C>T p.V135V Substitution - coding silent Lung COSM1601714 LBR c.695T>C p.M232T Substitution - Missense Liver COSM908420 PHC2 c.2501T>C p.L834P Substitution - Missense Endometrium COSM934217 HCFC2 c.82G>T p.A28S Substitution - Missense Endometrium COSM936040 KDM2B c.1557G>A p.A519A Substitution - coding silent Endometrium COSM1602152 ARID1A c.4984delA p.D1663fs*10 Deletion - Frameshift Liver COSM961210 BAHD1 c.1401C>A p.G467G Substitution - coding silent Endometrium COSM1040963 MECOM c.2249G>A p.R750Q Substitution - Missense Endometrium COSM1072920 NCOA7 c.884+1G>A p.? Unknown Endometrium COSM1012899 ASXL1 c.2113G>T p.E705* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1075343 ARID1B c.186G>A p.Q62Q Substitution - coding silent Biliary_tract COSM1108247 TAF1L c.1255G>A p.E419K Substitution - Missense Stomach COSM1245948 BAP1 c.368G>C p.S123T Substitution - Missense Oesophagus COSM1180829 CREBBP c.3250delA p.I1084fs*15 Deletion - Frameshift Large_intestine COSM1162748 BRD9 c.928A>T p.M310L Substitution - Missense Upper_aerodigestive_tract COSM1256214 L3MBTL4 c.1805T>C p.L602P Substitution - Missense Oesophagus COSM1223023 RAD54L c.1468C>A p.L490M Substitution - Missense Large_intestine COSM1216870 NCOR1 c.929G>A p.R310H Substitution - Missense Large_intestine COSM1186320 PBRM1 c.1744G>A p.G582S Substitution - Missense Lung COSM1303442 CHD3 c.19G>A p.V7M Substitution - Missense Urinary_tract COSM1317088 SP140_ENST00000392045 c.1431G>C p.A477A Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1328194 SMARCC1 c.2242T>C p.S748P Substitution - Missense Ovary COSM1375536 CHD2 c.515delA p.V175fs*1 Deletion - Frameshift Stomach COSM1375556 CHD2 c.4969T>C p.W1657R Substitution - Missense Large_intestine COSM1378074 GLYR1 c.1188C>T p.D396D Substitution - coding silent Large_intestine COSM1388726 SETBP1 c.3312C>T p.S1104S Substitution - coding silent Large_intestine COSM1432771 LMNB1 c.431C>T p.S144L Substitution - Missense Large_intestine COSM1356504 SUV420H1 c.1044A>C p.K348N Substitution - Missense Large_intestine COSM1479268 NCOR1 c.3522G>C p.Q1174H Substitution - Missense Breast COSM1614970 SMEK2 c.525A>G p.L175L Substitution - coding silent Liver COSM1621249 HDGFL1 c.739G>T p.D247Y Substitution - Missense Liver COSM1580154 BRPF3 c.3428G>C p.R1143P Substitution - Missense Central_nervous_system COSM1675221 ERCC6 c.2569C>T p.R857* Substitution - Nonsense Large_intestine COSM1665535 KDM5C c.1984delC p.L662fs*102 Deletion - Frameshift Kidney COSM1745342 ACTA1 c.709_711delTCC p.S237delS Deletion - In frame Urinary_tract COSM1724237 PRMT8 c.91T>C p.S31P Substitution - Missense Stomach COSM2007136 KMT2D c.5278A>C p.N1760H Substitution - Missense Large_intestine COSM2723132 MSL3 c.865delA p.K289fs*27 Deletion - Frameshift Large_intestine COSM2741618 ZBTB4 c.1953_1955delTGA p.D651delD Deletion - In frame Upper_aerodigestive_tract COSM2797898 BPTF c.8209_8211delAAG p.K2738delK Deletion - In frame Large_intestine COSM2793023 TDRD7 c.1086G>A p.P362P Substitution - coding silent Large_intestine COSM2931068 DIDO1 c.6088C>T p.P2030S Substitution - Missense Skin COSM3062881 PHF21B c.745C>T p.R249W Substitution - Missense Lung COSM3075977 BRPF3 c.1935C>T p.S645S Substitution - coding silent Upper_aerodigestive_tract COSM3266876 ACTB c.1014C>T p.S338S Substitution - coding silent Large_intestine COSM3257619 ING3 c.215_216insT p.L73fs*6 Insertion - Frameshift Large_intestine COSM3370731 KAT2A c.933C>T p.Y311Y Substitution - coding silent Thyroid COSM3410539 HDAC2 c.1171C>G p.H391D Substitution - Missense Central_nervous_system COSM3479283 TDRD5 c.878G>A p.G293E Substitution - Missense Skin COSM3446226 PRMT3 c.1326C>T p.I442I Substitution - coding silent Skin COSM3457090 HNF1A c.462G>A p.M154I Substitution - Missense Skin COSM3461474 KDM5A c.342C>T p.I114I Substitution - coding silent Skin COSM3447396 PRDM11 c.1292C>T p.S431F Substitution - Missense Skin COSM3622289 ARID1B c.4632C>T p.S1544S Substitution - coding silent Skin COSM3633861 TIF1 c.2210C>T p.S737F Substitution - Missense Skin COSM3631931 PHF14 c.2548G>A p.E850K Substitution - Missense Skin COSM3626160 BRPF3 c.1045C>T p.H349Y Substitution - Missense Skin COSM3628243 CDYL c.1136T>C p.L379P Substitution - Missense Skin COSM3578906 SP140_ENST00000392045 c.1809G>A p.K603K Substitution - coding silent Skin COSM3594681 SETD2 c.1141C>T p.Q381* Substitution - Nonsense Skin COSM3580227 NCOA1 c.2331G>A p.K777K Substitution - coding silent Skin COSM3663120 CBX3 c.421A>G p.K141E Substitution - Missense Liver COSM3669743 ACTB c.124-1G>T p.? Unknown Liver COSM3717864 AP001011.3_ENST00000320876 c.5029A>G p.I1677V Substitution - Missense Liver COSM3731369 ZMYM4 c.1281_1282insA p.P431fs*9 Insertion - Frameshift Stomach COSM3728169 MSH6 c.1325T>C p.I442T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3715605 SND1 c.2098G>A p.D700N Substitution - Missense Upper_aerodigestive_tract COSM3737036 DNMT3A c.1151_1152insT p.V386fs*7 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3781547 EYA4 c.1625G>T p.C542F Substitution - Missense Pancreas COSM3815976 BAHD1 c.1573A>C p.T525P Substitution - Missense Breast COSM3811572 ATF7IP c.2140C>T p.Q714* Substitution - Nonsense Breast COSM3906274 PSIP1 c.946C>T p.R316C Substitution - Missense Stomach COSM3950203 KMT2C c.10054C>T p.Q3352* Substitution - Nonsense Lung COSM3970659 DNMT1 c.3532C>T p.R1178W Substitution - Missense Central_nervous_system COSM4027381 RBBP5 c.1187C>G p.S396* Substitution - Nonsense Stomach COSM4074016 SMARCA4 c.784C>T p.P262S Substitution - Missense Stomach COSM4141289 SMYD1 c.380T>C p.V127A Substitution - Missense Ovary COSM4157331 ZBTB38 c.2787A>T p.R929S Substitution - Missense Thyroid COSM4188777 KDM6B c.46delG p.A16fs*7 Deletion - Frameshift Kidney COSM4384740 KMT2D c.4187C>T p.P1396L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4598375 NSD1 c.6062A>G p.H2021R Substitution - Missense Upper_aerodigestive_tract COSM4443459 TBL1XR1 c.202G>A p.E68K Substitution - Missense Large_intestine COSM4442338 DPF2 c.26T>C p.V9A Substitution - Missense Large_intestine COSM4444424 BAZ2A_ENST00000379441 c.2168G>A p.R723Q Substitution - Missense Large_intestine COSM4562896 HDAC7 c.831G>A p.R277R Substitution - coding silent Skin COSM4550299 PRDM9 c.497G>A p.R166K Substitution - Missense Skin COSM4537684 CHD8 c.2449G>A p.E817K Substitution - Missense Skin COSM4542657 TET2 c.3227G>C p.S1076T Substitution - Missense Skin COSM4587330 STK31 c.2863A>T p.I955L Substitution - Missense Bone COSM4458271 ATXN7 c.1078C>T p.R360W Substitution - Missense Skin COSM4732897 TDRD3 c.7C>T p.R3* Substitution - Nonsense Large_intestine COSM4677529 DIDO1 c.575G>A p.R192H Substitution - Missense Large_intestine COSM4766165 TET2 c.2089C>A p.P697T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4801613 KMT2D c.9630G>T p.Q3210H Substitution - Missense Liver COSM4931429 PHIP c.433A>T p.S145C Substitution - Missense Liver COSM4849375 SFMBT1 c.1035C>T p.I345I Substitution - coding silent Oesophagus COSM4833419 EHMT2 c.3072G>C p.W1024C Substitution - Missense Cervix COSM4880242 PRDM2 c.2302C>T p.L768L Substitution - coding silent Prostate COSM4835905 KDM4B c.2775C>T p.V925V Substitution - coding silent Cervix COSM4819635 BRWD1 c.1405G>A p.D469N Substitution - Missense Cervix COSM4957961 PRDM16 c.3155C>T p.A1052V Substitution - Missense Liver COSM5018880 PRDM4 c.2126delA p.K709fs*4 Deletion - Frameshift Soft_tissue COSM5139608 BRDT c.1459_1460+2delAAGT p.? Unknown Large_intestine COSM5346771 ARID2 c.604T>C p.L202L Substitution - coding silent Urinary_tract COSM5370106 TDRD1 c.2881_2882GG>AA p.G961K Substitution - Missense Skin COSM5362733 CHD8 c.696G>A p.Q232Q Substitution - coding silent Large_intestine COSM5366325 PRDM15 c.4325C>T p.A1442V Substitution - Missense Large_intestine COSM5356561 NIPBL c.5628T>C p.C1876C Substitution - coding silent Large_intestine COSM5434284 CREBBP c.4303G>C p.D1435H Substitution - Missense Oesophagus COSM5623817 MGA c.3574G>T p.E1192* Substitution - Nonsense Oesophagus COSM5722579 RAI1 c.292C>T p.P98S Substitution - Missense Skin COSM5729064 KMT2A c.2796G>A p.G932G Substitution - coding silent Skin COSM5723508 TDRD5 c.2092C>T p.Q698* Substitution - Nonsense Skin COSM5607055 SND1 c.2198G>A p.G733E Substitution - Missense Skin COSM5597709 TDRD1 c.3083G>A p.G1028E Substitution - Missense Skin COSM5715005 PRDM15 c.2205G>C p.K735N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5752237 KMT2C c.8797_8812del16 p.R2933fs*21 Deletion - Frameshift Breast COSM5698054 TAF1L c.3396C>A p.T1132T Substitution - coding silent Soft_tissue COSM5574218 SETD1A c.1832C>T p.P611L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5790588 BAZ1B c.2740C>T p.L914F Substitution - Missense Breast COSM5802780 ZBTB4 c.1847G>A p.R616H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5931747 PRDM9 c.1580G>A p.G527E Substitution - Missense Skin COSM5890202 EYA4 c.606C>T p.I202I Substitution - coding silent Skin COSM5968225 KMT2D c.8049G>T p.K2683N Substitution - Missense Genital_tract COSM5985425 DOT1L c.4135C>A p.L1379M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6002473 NCOR1 c.4294C>T p.R1432W Substitution - Missense Prostate COSM6008131 GTF3C1 c.4870G>A p.E1624K Substitution - Missense Prostate COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM131566 IDH2 c.? p.R172G Substitution - Missense Central_nervous_system COSM132980 ASXL1 c.? p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4169555 DNMT3A c.? p.K589fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM53153 TET2 c.? p.T1393P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1737972 BAP1 c.? p.L97P Substitution - Missense Eye COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM961493 MGA c.1054A>T p.I352F Substitution - Missense Endometrium COSM86082 KMT2C c.2418C>G p.S806S Substitution - coding silent Soft_tissue COSM1969472 BTAF1 c.2801C>T p.T934I Substitution - Missense Large_intestine COSM4949692 YEATS4 c.624A>G p.I208M Substitution - Missense Liver COSM430543 KDM2B c.1576C>T p.R526W Substitution - Missense Breast COSM122851 EP300 c.4195G>A p.D1399N Substitution - Missense Cervix COSM3546376 CHD6 c.935C>T p.P312L Substitution - Missense Skin COSM37033 EZH2 c.1920T>A p.N640K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1723605 KMT2D c.1498G>T p.E500* Substitution - Nonsense Skin COSM6000869 ZMYM2 c.3454-6T>A p.? Unknown Prostate COSM1601635 SMYD2 c.300G>T p.W100C Substitution - Missense Liver COSM4777829 PRDM2 c.1476_1477insT p.G493fs*5 Insertion - Frameshift Prostate COSM3676771 PRDM2 c.4357T>C p.S1453P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4590380 KMT2C c.7443A>T p.R2481S Substitution - Missense Upper_aerodigestive_tract COSM4754375 PHF16 c.2203A>C p.K735Q Substitution - Missense Stomach COSM51992 BAP1 c.2080_2105del26 p.Q694fs*14 Deletion - Frameshift Eye COSM5352946 TDRD10 c.577C>T p.R193C Substitution - Missense Large_intestine COSM4610015 TET2 c.629G>A p.G210D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2001154 EP400 c.7947C>T p.G2649G Substitution - coding silent Large_intestine COSM41644 TET2 c.1648C>T p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5691401 INO80B c.118C>A p.Q40K Substitution - Missense Soft_tissue COSM40582 SETD7 c.916G>A p.D306N Substitution - Missense Central_nervous_system COSM1215188 KMT2D c.15157C>T p.R5053C Substitution - Missense Large_intestine COSM277586 TAF1L c.2534G>A p.R845Q Substitution - Missense Large_intestine COSM1472613 TDRKH c.717C>T p.N239N Substitution - coding silent Breast COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4660054 ADNP c.2715C>T p.N905N Substitution - coding silent Biliary_tract COSM128141 HDAC4 c.414C>T p.R138R Substitution - coding silent Upper_aerodigestive_tract COSM1251232 EP400 c.8176_8181delCAACAA p.Q2747_Q2748delQQ Deletion - In frame Oesophagus COSM4385117 ASXL1 c.2919delT p.Y974fs*10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM144626 PHF6 c.955C>T p.R319* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5619842 BRD7 c.1397T>G p.V466G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5357317 HDGFL1 c.609C>T p.N203N Substitution - coding silent Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM4801391 SMARCC2 c.1741A>T p.M581L Substitution - Missense Liver COSM1256220 L3MBTL4 c.834T>C p.T278T Substitution - coding silent Stomach COSM41294 IDH1 c.? p.R132C Substitution - Missense Biliary_tract COSM4791266 LMNB2 c.141G>A p.L47L Substitution - coding silent Liver COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4163947 UHRF2 c.1479T>G p.G493G Substitution - coding silent Thyroid COSM187606 CHD6 c.664C>T p.R222W Substitution - Missense Stomach COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3450142 GLYATL1 c.562C>T p.H188Y Substitution - Missense Skin COSM5731551 SMARCB1 c.146C>G p.S49* Substitution - Nonsense Central_nervous_system COSM41294 IDH1 c.? p.R132C Substitution - Missense Bone COSM4449805 TDRD1 c.3363delA p.N1123fs*10 Deletion - Frameshift Large_intestine COSM3368819 ARID2 c.3091C>T p.Q1031* Substitution - Nonsense Biliary_tract COSM41294 IDH1 c.? p.R132C Substitution - Missense Soft_tissue COSM1368977 CHD8 c.7112delA p.N2371fs*6 Deletion - Frameshift Large_intestine COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1966258 TAF3 c.1433A>C p.K478T Substitution - Missense Large_intestine COSM85916 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1745900 KAT6B c.5010G>A p.L1670L Substitution - coding silent Urinary_tract COSM3376708 SETDB1 c.2500G>T p.G834C Substitution - Missense Pancreas COSM3615932 NIPBL c.1068T>C p.T356T Substitution - coding silent Skin COSM258233 TP53BP1 c.847G>T p.E283* Substitution - Nonsense Large_intestine COSM3531632 DOT1L c.5075A>G p.H1692R Substitution - Missense Skin COSM1989230 MBD6 c.1195T>C p.F399L Substitution - Missense Large_intestine COSM5559904 KDM1A c.2062T>G p.L688V Substitution - Missense Prostate COSM3578960 SP100 c.787G>A p.E263K Substitution - Missense Skin COSM3846387 ZBTB38 c.1144A>C p.T382P Substitution - Missense Breast COSM4153871 TIF1 c.833T>A p.M278K Substitution - Missense Ovary COSM34212 ASXL1 c.2385delC p.W796fs*22 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1197069 BAZ2B c.4960C>G p.L1654V Substitution - Missense Lung COSM4548228 BPTF c.4044G>A p.R1348R Substitution - coding silent Skin COSM469531 TDRD3 c.922C>T p.Q308* Substitution - Nonsense Kidney COSM1169513 KDM5C c.93delC p.I31fs*42 Deletion - Frameshift Kidney COSM923585 KMT2A c.6224G>A p.R2075H Substitution - Missense Small_intestine COSM5765264 NCOR1 c.2938C>G p.Q980E Substitution - Missense Large_intestine COSM1677967 METTL21D c.320A>G p.N107S Substitution - Missense Large_intestine COSM4632731 BAHCC1 c.580G>T p.G194C Substitution - Missense Large_intestine COSM1041420 TBL1XR1 c.496C>T p.R166W Substitution - Missense Endometrium COSM51863 ARID1A c.3059G>A p.R1020K Substitution - Missense Pancreas COSM5459709 EYA1 c.172G>A p.D58N Substitution - Missense Large_intestine COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3749702 ACTR5 c.18C>T p.F6F Substitution - coding silent Large_intestine COSM251160 TBL1XR1 c.832G>A p.G278R Substitution - Missense Liver COSM367813 SMARCA1 c.149C>A p.T50K Substitution - Missense Lung COSM3341163 NSD1 c.4774A>G p.T1592A Substitution - Missense Large_intestine COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Central_nervous_system COSM1437309 NIPBL c.6655_6656insT p.L2220fs*3 Insertion - Frameshift Large_intestine COSM4000524 MUM1 c.135T>C p.S45S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM51450 ARID1A c.6139G>T p.E2047* Substitution - Nonsense Ovary COSM734380 GABRG1 c.1303C>T p.R435C Substitution - Missense Central_nervous_system COSM5939161 SFMBT1 c.700+6G>A p.? Unknown Skin COSM3578914 SP140_ENST00000392045 c.2594G>A p.G865E Substitution - Missense Skin COSM6014859 ATF7IP c.3394-6C>G p.? Unknown Skin COSM4169908 IDH1 c.233C>A p.P78H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1679612 RAI1 c.2854G>T p.G952C Substitution - Missense Large_intestine COSM5478839 ORC1 c.1709G>T p.G570V Substitution - Missense Large_intestine COSM243166 BAP1 c.508T>G p.F170V Substitution - Missense Prostate COSM734126 CLOCK c.1954C>G p.Q652E Substitution - Missense Lung COSM4461064 LMNB2 c.1131C>T p.G377G Substitution - coding silent Skin COSM96513 EP300 c.5188delT p.S1730fs*4 Deletion - Frameshift Ovary COSM350019 SMYD3 c.1078G>C p.E360Q Substitution - Missense Lung COSM220455 TAF1 c.2999T>C p.L1000P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM464488 ZMYM1 c.2577C>A p.V859V Substitution - coding silent Kidney COSM5938235 PHF2 c.836C>A p.S279Y Substitution - Missense Skin COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Central_nervous_system COSM3487582 ARID1A c.3057G>A p.E1019E Substitution - coding silent Skin COSM4824592 HCFC1 c.5450C>T p.S1817F Substitution - Missense Cervix COSM119031 HDAC11 c.489+1G>C p.? Unknown Ovary COSM4041796 KDM5A c.2139G>T p.K713N Substitution - Missense Stomach COSM1045696 DHX30 c.2940G>T p.K980N Substitution - Missense Endometrium COSM4159579 HDAC3 c.685G>T p.D229Y Substitution - Missense Thyroid COSM3578866 SP110 c.949C>T p.Q317* Substitution - Nonsense Skin COSM212646 SETBP1 c.2591C>T p.T864M Substitution - Missense Large_intestine COSM3968241 KMT2D c.12608A>C p.Q4203P Substitution - Missense Central_nervous_system COSM5726386 BRPF3 c.1954G>A p.E652K Substitution - Missense Skin COSM3726571 PHRF1 c.2212C>G p.R738G Substitution - Missense Lung COSM1025727 ASXL1 c.1932G>T p.G644G Substitution - coding silent Endometrium COSM5051646 KMT2D c.1966delC p.L656fs*29 Deletion - Frameshift Stomach COSM5977364 MORF4L2 c.233A>G p.N78S Substitution - Missense Upper_aerodigestive_tract COSM158724 GATAD2B c.535C>T p.R179* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM131511 PHF10 c.475C>T p.R159* Substitution - Nonsense Liver COSM272842 KDM3A c.993delA p.I333fs*18 Deletion - Frameshift Large_intestine COSM914342 ASXL1 c.? p.Y591* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5600534 SMYD1 c.290G>A p.G97E Substitution - Missense Skin COSM1680029 BPTF c.3069A>C p.K1023N Substitution - Missense Large_intestine COSM4104159 CBX6 c.395G>A p.R132H Substitution - Missense Stomach COSM3733923 KMT2D c.6868delC p.H2290fs*23 Deletion - Frameshift Pancreas COSM5421846 PHRF1 c.3703G>A p.D1235N Substitution - Missense Prostate COSM4106231 ZBTB33 c.1814G>A p.S605N Substitution - Missense Stomach COSM1341426 ARID1A c.5542delG p.D1850fs*33 Deletion - Frameshift Stomach COSM4052631 ALKBH1 c.505C>T p.R169C Substitution - Missense Oesophagus COSM34192 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM5549930 ARID1B c.1205C>G p.A402G Substitution - Missense Prostate COSM99134 PRDM1 c.183+2T>G p.E61fs Unknown Haematopoietic_and_lymphoid_tissue COSM2949965 BRPF1 c.470G>A p.R157H Substitution - Missense Large_intestine COSM2098599 CHD4 c.1579C>T p.P527S Substitution - Missense Skin COSM4170086 EP300 c.6626_6637del12 p.N2209_Q2213>K Complex - deletion inframe Haematopoietic_and_lymphoid_tissue COSM3171700 NCOA7 c.2231C>G p.T744S Substitution - Missense Large_intestine COSM1227874 STK31 c.1760A>G p.Q587R Substitution - Missense Large_intestine COSM5360799 KDM4D c.1377A>C p.K459N Substitution - Missense Large_intestine COSM1726212 KDM5D c.1891G>C p.V631L Substitution - Missense Liver COSM4645132 HDAC7 c.1661G>T p.R554L Substitution - Missense Large_intestine COSM985850 BAHCC1 c.3544C>T p.R1182* Substitution - Nonsense Endometrium COSM3474951 ASH1L c.8232C>T p.I2744I Substitution - coding silent Skin COSM444026 ADNP c.2860G>C p.D954H Substitution - Missense Breast COSM915026 TDRD1 c.2693C>T p.A898V Substitution - Missense Endometrium COSM1478999 CTCF c.862C>G p.H288D Substitution - Missense Breast COSM4074004 CARM1 c.1707T>C p.S569S Substitution - coding silent Stomach COSM5826522 PHF2 c.2955_2956ins15 p.T996_S997insTPAST Insertion - In frame Large_intestine COSM4013848 EPC1 c.1169C>T p.S390L Substitution - Missense Stomach COSM5429866 BAZ1A c.3274G>C p.E1092Q Substitution - Missense Oesophagus COSM4383946 TET2 c.4312A>T p.K1438* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3655408 BRD3 c.1960G>A p.A654T Substitution - Missense Skin COSM5795490 BAZ1A c.4616C>A p.P1539H Substitution - Missense Breast COSM3510232 CHD9 c.3802A>T p.T1268S Substitution - Missense Skin COSM4039396 SIRT4 c.908G>A p.R303H Substitution - Missense Stomach COSM1747727 SETDB1 c.2527G>A p.D843N Substitution - Missense Urinary_tract COSM1363065 SMARCC2 c.575G>A p.R192Q Substitution - Missense Large_intestine COSM22844 ARID4B c.1770T>C p.A590A Substitution - coding silent Lung COSM216318 CHD8 c.1424G>A p.R475H Substitution - Missense Pancreas COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM315855 TDRD3 c.345G>T p.L115F Substitution - Missense Soft_tissue COSM110721 BAP1 c.178C>T p.R60* Substitution - Nonsense Meninges COSM1257991 MSL3 c.1372C>A p.R458R Substitution - coding silent Stomach COSM328978 KMT2C c.8390delA p.K2797fs*26 Deletion - Frameshift Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4725190 SETDB1 c.699_700insT p.D235fs*1 Insertion - Frameshift Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM480176 SETD2 c.1531G>T p.G511C Substitution - Missense Kidney COSM1169689 TET2 c.? p.D1242fs*11 Frameshift Haematopoietic_and_lymphoid_tissue COSM2874641 NCOA2 c.1338A>C p.G446G Substitution - coding silent Upper_aerodigestive_tract COSM3710910 KMT2D c.7417C>T p.Q2473* Substitution - Nonsense Upper_aerodigestive_tract COSM1221907 PRDM9 c.2506G>A p.E836K Substitution - Missense Large_intestine COSM314407 PRDM14 c.1005G>T p.K335N Substitution - Missense Lung COSM1581240 KMT2C c.7846C>T p.P2616S Substitution - Missense Skin COSM1179669 KMT2C c.943G>A p.G315S Substitution - Missense Soft_tissue COSM970544 CREBBP c.6424C>A p.L2142M Substitution - Missense Endometrium COSM4568691 MSH6 c.1279T>G p.Y427D Substitution - Missense Skin COSM1755183 KMT2C c.10647G>T p.V3549V Substitution - coding silent Urinary_tract COSM3788686 POGZ c.2925G>A p.V975V Substitution - coding silent Urinary_tract COSM5447220 EZH1 c.1716T>C p.C572C Substitution - coding silent Large_intestine COSM4791545 MUM1 c.1819C>T p.L607L Substitution - coding silent Liver COSM86973 IKZF1 c.161-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5557998 PHF20 c.1087A>C p.K363Q Substitution - Missense Prostate COSM4384084 NSD1 c.4858G>A p.V1620I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144496 IDH2 c.? p.R172S Substitution - Missense Central_nervous_system COSM1045459 SETD2 c.3321G>T p.K1107N Substitution - Missense Endometrium COSM219078 ASXL1 c.? p.R404* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1069067 C5orf35 c.838G>A p.A280T Substitution - Missense Biliary_tract COSM4564844 BAG6 c.1481_1482CC>TT p.T494I Substitution - Missense Skin COSM5979002 C5orf35 c.868_869insT p.S292fs*>9 Insertion - Frameshift Upper_aerodigestive_tract COSM1581234 KMT2C c.10763C>T p.S3588L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM255201 SMARCB1 c.197_198insA p.S67fs*4 Insertion - Frameshift Soft_tissue COSM3810040 DPF2 c.33-1G>T p.? Unknown Breast COSM1067077 PRDM9 c.1030T>C p.C344R Substitution - Missense Endometrium COSM4991534 EP300 c.4511T>C p.F1504S Substitution - Missense Skin COSM5642948 HDAC2 c.216G>C p.E72D Substitution - Missense Oesophagus COSM1984230 HDGF c.402C>T p.D134D Substitution - coding silent Large_intestine COSM3754995 PRMT7 c.1797C>T p.T599T Substitution - coding silent Large_intestine COSM5987482 BAZ2A c.2142G>C p.K714N Substitution - Missense Salivary_gland COSM1620728 PRDM1 c.1261C>T p.P421S Substitution - Missense Liver COSM190399 BRD7 c.1834C>T p.R612* Substitution - Nonsense Large_intestine COSM5985272 KMT2C c.5259T>G p.F1753L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1476831 CHD4 c.3484C>T p.R1162W Substitution - Missense Large_intestine COSM131314 MECOM c.1283G>T p.G428V Substitution - Missense Liver COSM1583106 DNMT3A c.2309C>A p.S770* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM717302 BAZ2B c.856G>A p.D286N Substitution - Missense Lung COSM4990227 ARID2 c.1581-1G>A p.? Unknown Skin COSM4526891 KDM4B c.1426G>A p.E476K Substitution - Missense Skin COSM1660293 SETD2 c.3485A>T p.D1162V Substitution - Missense Kidney COSM1390025 DNMT1 c.2152delA p.M718fs*59 Deletion - Frameshift Stomach COSM5135067 ATXN7 c.538G>A p.V180I Substitution - Missense Upper_aerodigestive_tract COSM329669 KDM6A c.226-6delT p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5503828 KMT2A c.8811G>T p.R2937R Substitution - coding silent Biliary_tract COSM5801956 NCOA2 c.4383+8_4383+11delAGAA p.? Unknown Breast COSM1688028 BRDT c.979G>A p.D327N Substitution - Missense Skin COSM211731 TET2 c.4133G>A p.C1378Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3788655 SETDB1 c.2018A>G p.Y673C Substitution - Missense Urinary_tract COSM1735694 KMT2D c.? p.? Substitution - Missense Central_nervous_system COSM2001122 EP400 c.6628C>A p.P2210T Substitution - Missense Upper_aerodigestive_tract COSM1021297 MSH6 c.3227G>A p.R1076H Substitution - Missense Large_intestine COSM1301954 CREBBP c.7302G>A p.T2434T Substitution - coding silent Urinary_tract COSM5787046 CREBBP c.4277C>T p.T1426M Substitution - Missense Breast COSM543942 PHRF1 c.1934C>T p.A645V Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM989 SMARCB1 c.1130G>A p.R377H Substitution - Missense Small_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4391264 TAF1 c.4612C>T p.P1538S Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4951616 ZMYND8 c.1053T>A p.S351S Substitution - coding silent Liver COSM1666617 ARID1A c.? p.G1137* Substitution - Nonsense Ovary COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3899965 WHSC1L1 c.959C>T p.A320V Substitution - Missense Stomach COSM3069057 SETD2 c.2301G>A p.T767T Substitution - coding silent Large_intestine COSM5020249 TET2 c.86C>G p.P29R Substitution - Missense Soft_tissue COSM5517537 SMC1A c.801G>T p.K267N Substitution - Missense Biliary_tract COSM3722015 HDAC9 c.1656G>C p.E552D Substitution - Missense Upper_aerodigestive_tract COSM5019668 KAT6B c.4078_4086delGAAGAGGAA p.E1366_E1368delEEE Deletion - In frame Soft_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM4954995 HNF1A c.724A>T p.I242F Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4504257 CHD8 c.6602C>T p.P2201L Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM80030 JMJD5 c.204C>T p.S68S Substitution - coding silent Ovary COSM5509938 SFMBT1 c.2432C>T p.A811V Substitution - Missense Biliary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1289315 TDRD1 c.267G>T p.P89P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM211720 TET2 c.3812G>A p.C1271Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1319939 GATAD2B c.1335G>A p.M445I Substitution - Missense Ovary COSM1363037 SMARCC2 c.3274_3276delCCT p.P1092delP Deletion - In frame Large_intestine COSM1411824 CHD6 c.7987delG p.D2663fs*>53 Deletion - Frameshift Large_intestine COSM3579790 ATAD2B_ENST00000238789 c.3262T>A p.S1088T Substitution - Missense Skin COSM1054440 WHSC1 c.2580C>T p.I860I Substitution - coding silent Endometrium COSM3739527 ATF7IP c.2558C>T p.P853L Substitution - Missense Liver COSM3959130 ASXL3 c.311A>T p.Q104L Substitution - Missense Lung COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4385603 TET2 c.4311_4312insA p.R1440fs*38 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5643609 TRRAP c.6090A>T p.R2030S Substitution - Missense Oesophagus COSM4694971 KDM4B c.3155G>T p.G1052V Substitution - Missense Large_intestine COSM145956 SMARCD3 c.1012G>A p.D338N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1055646 GABRG1 c.422G>A p.G141E Substitution - Missense Skin COSM3366037 PRDM9 c.1701C>T p.L567L Substitution - coding silent Kidney COSM3473716 TDRKH c.1152G>A p.L384L Substitution - coding silent Skin COSM5058174 BAZ2B c.3019C>T p.R1007* Substitution - Nonsense Stomach COSM5986515 KMT2D c.14160_14161insCG p.L4722fs*4 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM271712 MBD6 c.2073_2074insC p.Q694fs*23 Insertion - Frameshift Breast COSM5399743 BAP1 c.1063C>T p.Q355* Substitution - Nonsense Skin COSM3522201 ZBTB4 c.2941C>T p.P981S Substitution - Missense Skin COSM1184886 BRD1 c.121G>T p.E41* Substitution - Nonsense Large_intestine COSM1093687 TRRAP c.8577G>A p.P2859P Substitution - coding silent Endometrium COSM3615930 NIPBL c.979A>G p.K327E Substitution - Missense Skin COSM356556 KDM5C c.1494G>T p.K498N Substitution - Missense Lung COSM944336 PHC1 c.1287G>A p.Q429Q Substitution - coding silent Large_intestine COSM3501427 TP53BP1 c.2002C>T p.P668S Substitution - Missense Skin COSM41741 TET2 c.5618T>C p.I1873T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1318929 DNMT3A c.1843C>T p.Q615* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5900918 KMT2D c.10084C>T p.P3362S Substitution - Missense Skin COSM5726715 KMT2D c.2731G>A p.E911K Substitution - Missense Skin COSM5916241 KMT2D c.14941G>A p.E4981K Substitution - Missense Skin COSM693680 KMT2D c.4625C>G p.S1542* Substitution - Nonsense Lung COSM2719978 CHD7 c.825C>A p.F275L Substitution - Missense Large_intestine COSM544448 MEN1 c.1064G>T p.R355L Substitution - Missense Skin COSM5350420 CBX4 c.972G>A p.P324P Substitution - coding silent Lung COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Endometrium COSM1184478 BAZ2A_ENST00000379441 c.2155C>T p.Q719* Substitution - Nonsense Large_intestine COSM4950821 ATAD2 c.3987T>A p.D1329E Substitution - Missense Liver COSM1101397 PRDM14 c.631C>A p.P211T Substitution - Missense Endometrium COSM1375534 CHD2 c.514_515insA p.V175fs*18 Insertion - Frameshift Large_intestine COSM2810356 ASXL3 c.1739delA p.V583fs*59 Deletion - Frameshift Large_intestine COSM1602135 ARID1A c.927G>T p.Q309H Substitution - Missense Liver COSM29385 SMARCB1 c.425T>G p.L142* Substitution - Nonsense Central_nervous_system COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM37030 EZH2 c.1936T>C p.Y646H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53300 SMARCB1 c.556_557insGAGGTGC p.L186fs*27 Insertion - Frameshift Soft_tissue COSM75246 LMNA c.628A>G p.I210V Substitution - Missense Ovary COSM75577 NCOA3 c.3593C>G p.P1198R Substitution - Missense Ovary COSM96531 IDH1 c.209G>A p.G70D Substitution - Missense Thyroid COSM86960 IDH2 c.512G>A p.G171D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM112087 TDG c.286_287insA p.I98fs*6 Insertion - Frameshift Skin COSM118310 SIRT6 c.789C>T p.T263T Substitution - coding silent Ovary COSM141233 MYST3 c.4499C>T p.P1500L Substitution - Missense Upper_aerodigestive_tract COSM194209 DPF2 c.1077G>A p.P359P Substitution - coding silent Breast COSM218274 ERCC6 c.2204G>A p.R735Q Substitution - Missense Skin COSM199451 ZCWPW1 c.50G>T p.R17I Substitution - Missense Large_intestine COSM204207 PRDM12 c.540C>T p.I180I Substitution - coding silent Skin COSM215644 SETD1A c.1787C>T p.P596L Substitution - Missense Central_nervous_system COSM212182 KAT6B c.3761G>A p.R1254H Substitution - Missense Stomach COSM243157 BAHD1 c.977C>T p.P326L Substitution - Missense Prostate COSM251347 HNF1A c.340_343delCGTG p.R114fs*40 Deletion - Frameshift Liver COSM262336 NCOR1 c.3338G>A p.R1113Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM276083 MLL5 c.2621G>A p.R874Q Substitution - Missense Endometrium COSM294513 L3MBTL2 c.214C>T p.L72F Substitution - Missense Large_intestine COSM427248 MGMT c.287G>A p.R96K Substitution - Missense Breast COSM439143 LMNB2 c.1356T>C p.G452G Substitution - coding silent Liver COSM455883 KIAA1045 c.1050_1052delCAG p.S354delS Deletion - In frame Soft_tissue COSM459262 ZMYM1 c.1808G>A p.R603Q Substitution - Missense Cervix COSM980860 MYST2 c.1278A>T p.K426N Substitution - Missense Endometrium COSM985406 CBX8 c.520C>T p.R174C Substitution - Missense Endometrium COSM675116 TTF2 c.2151C>T p.L717L Substitution - coding silent Oesophagus COSM1049000 SETD5_ENST00000402198 c.2645G>A p.R882Q Substitution - Missense Endometrium COSM1017607 SP140_ENST00000392045 c.1933C>T p.R645C Substitution - Missense Endometrium COSM936101 SETD1B c.2005C>T p.R669W Substitution - Missense Endometrium COSM743052 PHIP c.2202-3C>T p.? Unknown Lung COSM707524 BPTF c.7933C>A p.L2645M Substitution - Missense Lung COSM732954 ING2 c.610G>C p.E204Q Substitution - Missense Lung COSM1693057 MINA c.850G>C p.V284L Substitution - Missense Skin COSM930383 DPF2 c.959A>G p.Y320C Substitution - Missense Endometrium COSM900307 TDRD5 c.2452C>T p.Q818* Substitution - Nonsense Endometrium COSM912510 RERE c.4165G>A p.E1389K Substitution - Missense Endometrium COSM1602146 ARID1A c.3909G>T p.G1303G Substitution - coding silent Liver COSM1067659 NIPBL c.1942A>G p.T648A Substitution - Missense Endometrium COSM969484 CCDC101 c.178C>T p.R60C Substitution - Missense Large_intestine COSM1063491 HDAC3 c.1041G>T p.E347D Substitution - Missense Endometrium COSM1060893 PHF15 c.1272C>T p.V424V Substitution - coding silent Endometrium COSM969917 SRCAP c.578G>A p.R193Q Substitution - Missense Endometrium COSM1125828 BRWD3 c.3719G>A p.R1240Q Substitution - Missense Endometrium COSM1240362 TAF1L c.2524C>T p.R842W Substitution - Missense Oesophagus COSM1183580 ARID4A c.1889G>A p.W630* Substitution - Nonsense Large_intestine COSM1188973 MGA c.8683G>A p.E2895K Substitution - Missense Lung COSM1311013 NSD1 c.5951G>T p.R1984L Substitution - Missense Urinary_tract COSM1289803 BAZ2A_ENST00000379441 c.2098+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1298310 MTA2 c.790G>A p.E264K Substitution - Missense Urinary_tract COSM1463737 PHF2 c.2949A>T p.P983P Substitution - coding silent Thyroid COSM1443312 BAG6 c.756C>T p.G252G Substitution - coding silent Large_intestine COSM1468553 SMC1A c.1472G>A p.R491H Substitution - Missense Large_intestine COSM1353170 PRMT3 c.772G>A p.V258I Substitution - Missense Large_intestine COSM1361981 KMT2D c.12065C>T p.P4022L Substitution - Missense Large_intestine COSM1469182 ZMYM3 c.2530G>A p.V844I Substitution - Missense Large_intestine COSM1620269 NIPBL c.3929C>T p.A1310V Substitution - Missense Skin COSM1620720 PRDM1 c.661G>T p.D221Y Substitution - Missense Liver COSM1632487 BRWD1 c.350-9A>G p.? Unknown Liver COSM1642188 FXR1 c.891T>C p.I297I Substitution - coding silent Stomach COSM1676888 ARID2 c.551C>A p.S184* Substitution - Nonsense Large_intestine COSM1679022 SRCAP c.8306A>G p.Q2769R Substitution - Missense Stomach COSM1668543 ACTA1 c.766C>T p.R256C Substitution - Missense Large_intestine COSM1698742 BAZ1B c.3350A>G p.Q1117R Substitution - Missense Skin COSM1730030 CHD2 c.3239C>G p.A1080G Substitution - Missense Liver COSM1747322 ACTR6 c.957G>C p.L319F Substitution - Missense Urinary_tract COSM2199997 SETD3 c.352G>T p.E118* Substitution - Nonsense Breast COSM2688034 NIPBL c.7133C>T p.P2378L Substitution - Missense Skin COSM2812150 SETBP1 c.4434C>T p.C1478C Substitution - coding silent Large_intestine COSM3089671 EHMT1 c.1919C>T p.T640M Substitution - Missense Large_intestine COSM3206359 FXR1 c.1666G>T p.E556* Substitution - Nonsense Large_intestine COSM3304578 KMT2C c.1121C>T p.A374V Substitution - Missense Liver COSM3347147 EHMT2 c.2563delC p.L855fs*36 Deletion - Frameshift Biliary_tract COSM3450224 PHRF1 c.431C>T p.S144F Substitution - Missense Skin COSM3611756 HDAC3 c.292C>T p.P98S Substitution - Missense Skin COSM3618957 CHD1 c.2479C>T p.R827C Substitution - Missense Skin COSM3546357 CHD6 c.6427C>T p.P2143S Substitution - Missense Skin COSM3523220 KDM6B c.4370G>A p.R1457Q Substitution - Missense Skin COSM3529833 MBD3 c.611C>T p.P204L Substitution - Missense Skin COSM3697557 SHPRH c.3228+1G>T p.? Unknown Large_intestine COSM3691900 CBX2 c.940G>A p.G314S Substitution - Missense Large_intestine COSM3668126 ASXL3 c.1461C>T p.S487S Substitution - coding silent Skin COSM3704481 ARID1A c.2272C>T p.Q758* Substitution - Nonsense Skin COSM3707008 SETD1A c.1654G>C p.A552P Substitution - Missense Liver COSM3719987 KDM5C c.1678C>A p.Q560K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3710701 HNF1A c.1270C>A p.P424T Substitution - Missense Upper_aerodigestive_tract COSM3762194 PHIP c.3278T>C p.L1093P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3793018 AICDA c.237C>T p.T79T Substitution - coding silent Urinary_tract COSM3839169 DNMT3A c.793G>A p.V265M Substitution - Missense Liver COSM3845342 HDAC8 c.867G>A p.K289K Substitution - coding silent Breast COSM3838800 SP110 c.958C>G p.Q320E Substitution - Missense Breast COSM3920818 SHPRH c.2644C>G p.R882G Substitution - Missense Skin COSM3877894 SND1 c.1170G>A p.L390L Substitution - coding silent Stomach COSM3900850 CHD7 c.309G>A p.S103S Substitution - coding silent Stomach COSM3973225 SMARCA1 c.1270C>T p.R424* Substitution - Nonsense Central_nervous_system COSM4002191 EP300 c.3348G>A p.Q1116Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4111266 BRWD3 c.2932A>T p.M978L Substitution - Missense Stomach COSM4100189 DIDO1 c.3911C>T p.A1304V Substitution - Missense Stomach COSM4124003 WHSC1 c.2478C>T p.H826H Substitution - coding silent Stomach COSM4128198 SP140_ENST00000392045 c.1018C>A p.P340T Substitution - Missense Ovary COSM4134607 EYA2 c.1593C>T p.H531H Substitution - coding silent Breast COSM4129608 NCOR1 c.571G>A p.E191K Substitution - Missense Upper_aerodigestive_tract COSM4147098 KMT2D c.8229T>A p.G2743G Substitution - coding silent Thyroid COSM4143992 KDM4A c.1445C>A p.A482E Substitution - Missense Breast COSM4168765 BAHCC1 c.5596G>A p.A1866T Substitution - Missense Peritoneum COSM4385368 KDM6A c.890T>C p.I297T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4444003 SP100 c.282T>A p.D94E Substitution - Missense Large_intestine COSM4500998 FXR1 c.577C>T p.R193C Substitution - Missense Skin COSM4436869 MINA c.1164G>C p.K388N Substitution - Missense Oesophagus COSM4487385 TCF20 c.3180C>T p.A1060A Substitution - coding silent Skin COSM4678882 DNMT1 c.2817G>A p.V939V Substitution - coding silent Large_intestine COSM4711401 PBRM1 c.835_836insAA p.I279fs*5 Insertion - Frameshift Large_intestine COSM4694974 KDM4C c.574G>A p.E192K Substitution - Missense Large_intestine COSM4765397 TTF2 c.3392_3393insA p.K1134fs*22 Insertion - Frameshift Stomach COSM4694060 MYST3 c.1813A>C p.T605P Substitution - Missense Large_intestine COSM4626412 EHMT1 c.1643G>A p.R548Q Substitution - Missense Large_intestine COSM4639470 DIDO1 c.6523C>A p.R2175R Substitution - coding silent Large_intestine COSM4634341 L3MBTL4 c.964G>A p.D322N Substitution - Missense Large_intestine COSM4775097 KMT2D c.1931T>C p.M644T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4790209 EP300 c.5638C>A p.P1880T Substitution - Missense Liver COSM4881850 HDGFL1 c.334G>T p.A112S Substitution - Missense Upper_aerodigestive_tract COSM4913881 BPTF c.512A>G p.D171G Substitution - Missense Liver COSM4912122 L3MBTL3 c.557A>C p.D186A Substitution - Missense Liver COSM4940528 ASH1L c.8612A>C p.N2871T Substitution - Missense Liver COSM4849165 NSD1 c.2017G>C p.E673Q Substitution - Missense Cervix COSM4831739 KDM4C c.3140C>G p.S1047C Substitution - Missense Cervix COSM4989967 ERCC6 c.2073C>T p.F691F Substitution - coding silent Skin COSM4990130 KMT2A c.6854C>T p.S2285F Substitution - Missense Skin COSM5022486 SP140_ENST00000392045 c.1726A>T p.R576* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5170293 MPHOSPH8 c.594G>A p.R198R Substitution - coding silent Large_intestine COSM5347001 ARID1A c.2686G>T p.E896* Substitution - Nonsense Endometrium COSM5348060 HDAC9 c.1543delG p.D515fs*34 Deletion - Frameshift Liver COSM5400379 PRDM5 c.171G>A p.M57I Substitution - Missense Skin COSM5365821 CHD6 c.2595delG p.I866fs*31 Deletion - Frameshift Large_intestine COSM5355468 ZCWPW2 c.630C>A p.D210E Substitution - Missense Large_intestine COSM5482141 TRRAP c.5752G>A p.E1918K Substitution - Missense Large_intestine COSM5467676 TAF1L c.3249G>T p.E1083D Substitution - Missense Large_intestine COSM5439802 INO80C c.380-3_380-2insC p.? Unknown Oesophagus COSM5641246 KMT2D c.5094G>A p.E1698E Substitution - coding silent Oesophagus COSM5716913 POGZ c.3153C>T p.F1051F Substitution - coding silent Skin COSM5733287 MINA c.1135C>G p.Q379E Substitution - Missense Pancreas COSM5736078 SMYD5 c.55C>A p.L19M Substitution - Missense Small_intestine COSM5606947 PRDM15 c.3124C>T p.H1042Y Substitution - Missense Skin COSM5609406 KMT2A c.5720C>T p.S1907L Substitution - Missense Skin COSM5585777 KMT2A c.5527C>T p.P1843S Substitution - Missense Skin COSM5600202 PHF21B c.438G>A p.A146A Substitution - coding silent Skin COSM5611040 TRRAP c.388C>T p.L130F Substitution - Missense Skin COSM5688138 TRIM24 c.1748G>T p.S583I Substitution - Missense Soft_tissue COSM5684504 KMT2D c.1397G>T p.R466L Substitution - Missense Soft_tissue COSM5666476 CREBBP c.4473A>T p.Q1491H Substitution - Missense Soft_tissue COSM5780034 EPC1 c.2286A>G p.S762S Substitution - coding silent Breast COSM5944521 TET2 c.5451_5452insA p.L1819fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5944541 KMT2C c.8002_8003insG p.S2668fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5945631 SETD2 c.392C>G p.P131R Substitution - Missense Central_nervous_system COSM5939517 EHMT2 c.3145G>A p.G1049S Substitution - Missense Skin COSM5916544 SRCAP c.1832C>T p.P611L Substitution - Missense Skin COSM5942191 CHD7 c.5359G>A p.D1787N Substitution - Missense Skin COSM5980283 ARID2 c.3389T>C p.V1130A Substitution - Missense Upper_aerodigestive_tract COSM5969361 RBBP4 c.84C>T p.T28T Substitution - coding silent Upper_aerodigestive_tract COSM5996591 PHIP c.2935C>T p.R979W Substitution - Missense Prostate COSM23058 MEN1 c.? p.E473* Substitution - Nonsense Gastrointestinal_tract_(site_indeterminate) COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4169391 ARID1A c.? p.G800E Substitution - Missense Skin COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM51384 IDH1 c.? p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1738132 TET2 c.? p.S315fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1333459 PRDM2 c.4270delA p.N1426fs*3 Deletion - Frameshift Large_intestine COSM1071542 CHD1 c.4721G>T p.R1574I Substitution - Missense Endometrium COSM4753726 SETBP1 c.595C>T p.Q199* Substitution - Nonsense Stomach COSM1309966 WHSC1 c.1574A>G p.K525R Substitution - Missense Urinary_tract COSM162502 KMT2C c.7442+1G>A p.? Unknown Breast COSM4128570 IDH2 c.996C>T p.S332S Substitution - coding silent Soft_tissue COSM4767765 SMARCA4 c.2743C>T p.Q915* Substitution - Nonsense Biliary_tract COSM39432 PCGF2 c.190C>T p.R64W Substitution - Missense Central_nervous_system COSM939992 KMT2D c.13938G>A p.P4646P Substitution - coding silent Endometrium COSM4432309 TP53BP1 c.4313G>A p.R1438H Substitution - Missense Oesophagus COSM254611 CHD6 c.7155G>C p.Q2385H Substitution - Missense Urinary_tract COSM22381 TIF1 c.2769C>T p.S923S Substitution - coding silent Breast COSM5725087 RAI1 c.671C>T p.S224F Substitution - Missense Skin COSM1472098 PRDM14 c.957A>G p.G319G Substitution - coding silent Prostate COSM144694 PHF6 c.? p.R116* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1678809 CREBBP c.2678C>A p.S893* Substitution - Nonsense Ovary COSM431197 KMT2D c.12897C>A p.I4299I Substitution - coding silent Breast COSM1107705 SMARCA2 c.1399C>T p.R467W Substitution - Missense Endometrium COSM1716170 ASXL1 c.2640_2640delT p.R881fs*5 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4069627 ZBTB4 c.1661C>T p.T554M Substitution - Missense Stomach COSM3399235 ING1 c.230C>T p.A77V Substitution - Missense Central_nervous_system COSM5700089 SMARCA2 c.1066C>T p.H356Y Substitution - Missense Soft_tissue COSM1378656 SETD6 c.1221delA p.T409fs*31 Deletion - Frameshift Large_intestine COSM2965457 KDM6A c.3666A>T p.A1222A Substitution - coding silent Upper_aerodigestive_tract COSM4489885 PRDM16 c.3547C>T p.L1183L Substitution - coding silent Skin COSM5944305 EZH2 c.2196-1_2198delGATA p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4840400 NIPBL c.6337T>G p.Y2113D Substitution - Missense Cervix COSM1228428 TAF1L c.2038G>T p.E680* Substitution - Nonsense Large_intestine COSM1183885 ATF7IP c.2087G>A p.R696K Substitution - Missense Large_intestine COSM51421 ARID1A c.5953T>C p.S1985P Substitution - Missense Endometrium COSM961353 INOC1 c.3046C>T p.R1016* Substitution - Nonsense Biliary_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM4898666 KMT2C c.898G>A p.E300K Substitution - Missense Skin COSM3979606 RAG2 c.99A>T p.Q33H Substitution - Missense Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1688024 BRDT c.347T>C p.V116A Substitution - Missense Skin COSM1179107 KMT2C c.851G>A p.R284Q Substitution - Missense Upper_aerodigestive_tract COSM41296 IDH2 c.? p.R172W Substitution - Missense Central_nervous_system COSM87928 KMT2D c.6128_6129insCATCCAC p.T2044fs*14 Insertion - Frameshift Central_nervous_system COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM282799 MINA c.1164G>T p.K388N Substitution - Missense Large_intestine COSM4645299 BAHCC1 c.6911C>A p.A2304D Substitution - Missense Large_intestine COSM4169955 DNMT3A c.2395C>G p.P799A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4625679 SHPRH c.1268A>G p.K423R Substitution - Missense Large_intestine COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1624855 SMARCA2 c.3502G>A p.E1168K Substitution - Missense Liver COSM4413592 YY1 c.1106A>G p.N369S Substitution - Missense Central_nervous_system COSM2965438 KDM6A c.3304G>A p.E1102K Substitution - Missense Biliary_tract COSM1690771 SMYD1 c.1240G>A p.G414R Substitution - Missense Stomach COSM1161941 SETD2 c.2900C>T p.P967L Substitution - Missense Kidney COSM42005 TET2 c.3954+2T>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4803568 PRDM13 c.698C>A p.S233Y Substitution - Missense Liver COSM5557389 PRDM2 c.1837A>G p.I613V Substitution - Missense Prostate COSM4616712 PRDM4 c.353A>C p.D118A Substitution - Missense Large_intestine COSM5998947 BTAF1 c.740G>A p.R247Q Substitution - Missense Prostate COSM2723766 ZBTB33 c.1323T>G p.T441T Substitution - coding silent Large_intestine COSM1718106 ATF7IP c.3398_3399CC>TT p.P1133L Substitution - Missense Skin COSM5784678 SIRT3 c.198C>T p.P66P Substitution - coding silent Breast COSM730420 KAT2B c.1757G>T p.G586V Substitution - Missense Lung COSM5465116 MBD5 c.1246C>A p.H416N Substitution - Missense Large_intestine COSM5720544 HDGFL1 c.682G>A p.E228K Substitution - Missense Skin COSM3823999 SETD2 c.4562G>A p.R1521Q Substitution - Missense Breast COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1159250 ARID2 c.1716-1G>A p.? Unknown Pancreas COSM23512 DHX30 c.632C>T p.T211I Substitution - Missense Skin COSM1458069 NCOA2 c.2847G>A p.M949I Substitution - Missense Large_intestine COSM1729110 CDYL2 c.1006A>T p.R336W Substitution - Missense Liver COSM4954415 FXR1 c.1468G>T p.D490Y Substitution - Missense Liver COSM4989870 SETD2 c.? p.D894G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5566657 BAHD1 c.2033G>A p.R678H Substitution - Missense Prostate COSM5717849 GTF3C1 c.6085C>T p.L2029L Substitution - coding silent Skin COSM326754 TRIM24 c.706G>A p.E236K Substitution - Missense Lung COSM3374915 WHSC1L1 c.1391C>T p.P464L Substitution - Missense Thyroid COSM3973452 HCFC1 c.254T>G p.V85G Substitution - Missense Central_nervous_system COSM4093264 DNMT3A c.1574C>T p.A525V Substitution - Missense Stomach COSM1162051 SETD2 c.3456_3457insGAAG p.V1153fs*11 Insertion - Frameshift Kidney COSM1101391 PRDM14 c.1202G>T p.R401I Substitution - Missense Endometrium COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Central_nervous_system COSM5994888 ZCWPW2 c.188A>G p.N63S Substitution - Missense Prostate COSM5607142 TRIM66 c.2578C>T p.P860S Substitution - Missense Skin COSM2740253 RAI1 c.4779C>T p.P1593P Substitution - coding silent Large_intestine COSM3669152 SETD2 c.411T>C p.F137F Substitution - coding silent Liver COSM2848386 GABRG1 c.839C>T p.P280L Substitution - Missense Skin COSM51475 ARID1A c.4582C>T p.R1528* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1994686 AICDA c.22C>T p.R8W Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5599939 KMT2D c.1855C>T p.P619S Substitution - Missense Skin COSM5565983 LMNA c.1256G>A p.R419H Substitution - Missense Prostate COSM1707264 BAZ1A c.1768C>T p.R590C Substitution - Missense Skin COSM743054 PHIP c.3424G>T p.G1142C Substitution - Missense Lung COSM5003686 BAHCC1 c.4714G>A p.G1572R Substitution - Missense Pancreas COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87162 TET2 c.4144C>T p.H1382Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4515725 ZBTB38 c.1273_1274CC>TT p.P425L Substitution - Missense Skin COSM96361 BAP1 c.118C>T p.Q40* Substitution - Nonsense Kidney COSM4491465 ATF2 c.380C>T p.S127F Substitution - Missense Skin COSM5073880 CHD9 c.3680G>A p.R1227Q Substitution - Missense Large_intestine COSM1738957 ING2 c.120C>G p.H40Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1363039 SMARCC2 c.3128delC p.P1043fs*18 Deletion - Frameshift Large_intestine COSM5406436 SND1 c.2663C>T p.A888V Substitution - Missense Skin COSM1380021 CDYL2 c.743G>A p.R248Q Substitution - Missense Oesophagus COSM4171996 EP300 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4792069 PHF19 c.590A>G p.Y197C Substitution - Missense Liver COSM5378669 TDRD5 c.1425C>T p.V475V Substitution - coding silent Skin COSM459146 ARID4A c.1525A>G p.T509A Substitution - Missense Cervix COSM3551329 DNMT3L c.83C>T p.S28F Substitution - Missense Skin COSM4877001 SRCAP c.6157C>T p.R2053W Substitution - Missense Prostate COSM4153292 RING1 c.745C>T p.P249S Substitution - Missense Ovary COSM5462950 ASXL1 c.1496G>A p.R499H Substitution - Missense Prostate COSM4628427 NIPBL c.6982A>G p.T2328A Substitution - Missense Large_intestine COSM164199 SCMH1 c.1243C>G p.L415V Substitution - Missense Breast COSM4513019 TBL1XR1 c.923C>T p.S308L Substitution - Missense Skin COSM4570863 ZMYM2 c.3364T>C p.L1122L Substitution - coding silent Skin COSM25441 BAZ1A c.4241C>T p.P1414L Substitution - Missense Lung COSM241242 PRDM2 c.4444C>T p.P1482S Substitution - Missense Prostate COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1730122 CHD9 c.7890G>T p.R2630S Substitution - Missense Liver COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1450086 STK31 c.2761-1G>A p.? Unknown Large_intestine COSM5944238 TET2 c.209_213delAGAAT p.N71fs*5 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4892745 SMARCA1 c.955G>A p.E319K Substitution - Missense Skin COSM5833066 SRCAP c.3764delC p.H1256fs*48 Deletion - Frameshift Breast COSM5417869 CHD2 c.3635T>C p.I1212T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3988961 PCGF2 c.883A>C p.T295P Substitution - Missense Kidney COSM5945135 EZH2 c.386A>G p.H129R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3431514 STK31 c.135A>C p.V45V Substitution - coding silent Large_intestine COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1124883 TAF1 c.2003C>T p.P668L Substitution - Missense Endometrium COSM3901365 EYA1 c.1641A>G p.R547R Substitution - coding silent Stomach COSM4665231 BAZ2A c.406T>C p.S136P Substitution - Missense Large_intestine COSM1718381 CDYL c.253_254GG>AA p.G85N Substitution - Missense Skin COSM5348560 ARID1A c.5511_5512insT p.D1838fs*1 Insertion - Frameshift Liver COSM5031162 SMARCA4 c.? p.? Substitution - Missense Thymus COSM2688006 NIPBL c.6228C>T p.L2076L Substitution - coding silent Skin COSM1616069 BRWD1 c.4350T>C p.P1450P Substitution - coding silent Liver COSM4150511 ATAD2 c.298G>C p.A100P Substitution - Missense Ovary COSM5454765 KDM4B c.1196C>T p.A399V Substitution - Missense Large_intestine COSM4060198 SRCAP c.3598A>T p.N1200Y Substitution - Missense Stomach COSM4979210 KDM4B c.55C>T p.R19C Substitution - Missense Oesophagus COSM3727708 PHF21A c.1891G>T p.E631* Substitution - Nonsense Skin COSM4603233 DIDO1 c.4878_4879insC p.A1627fs*53 Insertion - Frameshift Upper_aerodigestive_tract COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM22588 MEN1 c.1505A>T p.K502M Substitution - Missense Pituitary COSM1386954 CBX8 c.214C>T p.R72C Substitution - Missense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3815993 INOC1 c.3023C>G p.S1008C Substitution - Missense Breast COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM71234 JMJD1C c.6584A>G p.N2195S Substitution - Missense Ovary COSM88767 CREBBP c.1407delT p.L470fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM954421 CHD8 c.6435G>A p.L2145L Substitution - coding silent Endometrium COSM693295 PRMT8 c.261+1G>A p.? Unknown Lung COSM5491234 TDRD5 c.2616G>A p.Q872Q Substitution - coding silent Biliary_tract COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4603233 DIDO1 c.4878_4879insC p.A1627fs*53 Insertion - Frameshift Upper_aerodigestive_tract COSM4170045 TET2 c.4884T>G p.Y1628* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5415419 ATAD2B_ENST00000238789 c.3159T>A p.C1053* Substitution - Nonsense Prostate COSM5878990 TET2 c.2740_2741ins41 p.F928fs*7 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM383720 POGZ c.2772G>C p.P924P Substitution - coding silent Lung COSM4170151 TET2 c.3763_3764insA p.Y1255fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4439945 MBD4 c.992G>A p.G331D Substitution - Missense Thyroid COSM4993550 KDM5C c.4193C>T p.P1398L Substitution - Missense Skin COSM5731841 ATRX c.4543G>T p.E1515* Substitution - Nonsense Soft_tissue COSM1736225 SMARCD3 c.1000G>A p.V334M Substitution - Missense Central_nervous_system COSM931218 SUV420H1 c.659G>A p.R220Q Substitution - Missense Endometrium COSM4747822 KDM2B c.1520delA p.K507fs*66 Deletion - Frameshift Large_intestine COSM5136784 UHRF2 c.1067C>A p.P356H Substitution - Missense Large_intestine COSM1225386 SETD7 c.209G>A p.G70D Substitution - Missense Large_intestine COSM474220 MUM1 c.70C>T p.R24* Substitution - Nonsense Kidney COSM929456 PHRF1 c.4944C>A p.G1648G Substitution - coding silent Endometrium COSM3390544 RBBP7 c.1039A>T p.S347C Substitution - Missense Pancreas COSM1166319 TDRD5 c.301C>T p.R101* Substitution - Nonsense Large_intestine COSM4577840 BAZ1A c.2514G>A p.L838L Substitution - coding silent Bone COSM1686954 RERE c.1343G>A p.R448Q Substitution - Missense Skin COSM5996929 ARID1B c.6042C>G p.S2014S Substitution - coding silent Prostate COSM3255866 PHF14 c.2137G>A p.G713R Substitution - Missense Large_intestine COSM13393 MSH6 c.2836G>T p.E946* Substitution - Nonsense Endometrium COSM3317983 PHF20L1 c.512G>A p.S171N Substitution - Missense Large_intestine COSM2780437 SFMBT1 c.2406G>A p.V802V Substitution - coding silent Large_intestine COSM5465134 BAZ2B c.485G>A p.R162Q Substitution - Missense Large_intestine COSM2758127 NCOA6 c.5981C>T p.A1994V Substitution - Missense Large_intestine COSM4789947 ZGPAT c.509T>A p.L170Q Substitution - Missense Liver COSM1734585 NCOA5 c.1359delC p.S454fs*69 Deletion - Frameshift Pancreas COSM4169556 DNMT3A c.? p.Q231L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5770709 PHF3 c.2545A>T p.K849* Substitution - Nonsense Breast COSM3376006 ASH1L c.4792G>C p.A1598P Substitution - Missense Pancreas COSM1047226 SFMBT1 c.862T>C p.S288P Substitution - Missense Endometrium COSM255213 MEN1 c.1621A>G p.T541A Substitution - Missense Soft_tissue COSM4592007 RAI1 c.841_843delCAG p.Q291delQ Deletion - In frame Upper_aerodigestive_tract COSM3699938 KAT6B c.815G>A p.C272Y Substitution - Missense Liver COSM1316525 ATRX c.655C>A p.Q219K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3655418 WDR5 c.512C>T p.S171L Substitution - Missense Skin COSM429376 PHRF1 c.1716G>A p.P572P Substitution - coding silent Thyroid COSM1183841 ASXL3 c.1723G>A p.V575I Substitution - Missense Large_intestine COSM4385362 KDM6A c.233G>A p.R78H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM220419 L3MBTL4 c.50G>A p.R17H Substitution - Missense Endometrium COSM1619516 BRD8 c.2990C>A p.T997N Substitution - Missense Liver COSM5601087 BAZ2B c.2631C>T p.F877F Substitution - coding silent Skin COSM349281 NCOR1 c.6279G>A p.V2093V Substitution - coding silent Lung COSM919467 JMJD1C c.4729G>A p.E1577K Substitution - Missense Endometrium COSM4788734 TDRD5 c.1955G>A p.R652K Substitution - Missense Liver COSM5898292 BAG6 c.2228-5C>T p.? Unknown Skin COSM4590050 PRDM10 c.1332A>C p.E444D Substitution - Missense Upper_aerodigestive_tract COSM4614201 IDH1 c.13_14insA p.I5fs*13 Insertion - Frameshift Large_intestine COSM5715134 BAZ2A_ENST00000379441 c.526T>C p.F176L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5558507 GLYR1 c.386T>A p.L129H Substitution - Missense Prostate COSM4043541 SMARCC2 c.846C>T p.N282N Substitution - coding silent Stomach COSM3523588 BAHCC1 c.2859G>A p.L953L Substitution - coding silent Skin COSM5805455 BAZ2B c.715A>T p.M239L Substitution - Missense Liver COSM3780816 BRD9 c.1402C>G p.L468V Substitution - Missense Pancreas COSM437699 KDM6B c.4036G>A p.E1346K Substitution - Missense Breast COSM458122 BRWD3 c.5314G>A p.E1772K Substitution - Missense Breast COSM4398567 ZCWPW1 c.800G>A p.W267* Substitution - Nonsense Skin COSM1088613 STK31 c.91G>A p.D31N Substitution - Missense Endometrium COSM1087637 KMT2C c.2976+4A>C p.? Unknown Endometrium COSM1342105 ZMYM6 c.883_884insA p.T295fs*8 Insertion - Frameshift Large_intestine COSM42092 MEN1 c.237_237delC p.V80fs*39 Deletion - Frameshift Pituitary COSM42002 TET2 c.694C>T p.Q232* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4698235 LMNB1 c.1358T>G p.F453C Substitution - Missense Large_intestine COSM4659177 ACTR6 c.261delT p.L89fs*1 Deletion - Frameshift Prostate COSM208001 MECOM c.10G>A p.E4K Substitution - Missense Lung COSM3420290 MGA c.5783T>C p.V1928A Substitution - Missense Large_intestine COSM52788 PBRM1 c.1273A>T p.K425* Substitution - Nonsense Kidney COSM6008926 ARID2 c.3739G>C p.E1247Q Substitution - Missense Large_intestine COSM4573921 HELLS c.1531C>A p.R511R Substitution - coding silent Bone COSM4600861 TAF3 c.581G>A p.R194Q Substitution - Missense Upper_aerodigestive_tract COSM3666007 KMT2A c.6800A>G p.Q2267R Substitution - Missense Liver COSM1233255 ZCWPW2 c.226G>T p.E76* Substitution - Nonsense Large_intestine COSM3579797 HDAC4 c.1966C>T p.L656F Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3596165 PBRM1 c.4693T>A p.L1565M Substitution - Missense Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3793567 CHD8 c.3805G>C p.D1269H Substitution - Missense Urinary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5925175 KDM3B c.3526G>A p.D1176N Substitution - Missense Skin COSM5381200 ORC1 c.217G>A p.E73K Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM480438 PBRM1 c.715-1G>A p.? Unknown Oesophagus COSM2698450 MYST2 c.61T>C p.S21P Substitution - Missense Large_intestine COSM4775163 PHF6 c.66_69delAAAT p.N23fs*9 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2777617 KIAA2026_ENST00000399933 c.1116G>A p.A372A Substitution - coding silent Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM51432 ARID1A c.6472C>T p.R2158* Substitution - Nonsense Skin COSM144491 DNMT3A c.2058_2064delCGTCCGC p.D686fs*17 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3360014 ARID1A c.3472G>A p.G1158R Substitution - Missense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3918693 BRD8 c.2249+2T>G p.? Unknown Skin COSM2931339 DIDO1 c.248G>A p.R83H Substitution - Missense Stomach COSM1114767 SMARCA1 c.2978G>A p.R993Q Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM421511 HDAC9 c.2813A>T p.H938L Substitution - Missense Urinary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4761976 JHDM1D c.1558C>T p.R520* Substitution - Nonsense Stomach COSM4741203 WHSC1 c.3207G>T p.K1069N Substitution - Missense Large_intestine COSM5359494 TAF1L c.2494C>T p.R832C Substitution - Missense Large_intestine COSM5387544 KDM6B c.2236G>A p.A746T Substitution - Missense Skin COSM4456620 SMARCA2 c.1016C>T p.P339L Substitution - Missense Skin COSM1965088 KAT6B c.1246A>T p.T416S Substitution - Missense Upper_aerodigestive_tract COSM5025147 MSH6 c.2629G>T p.E877* Substitution - Nonsense Large_intestine COSM1177924 CHD1 c.3177A>G p.E1059E Substitution - coding silent Endometrium COSM5897892 CHD2 c.1604C>T p.P535L Substitution - Missense Skin COSM2042533 SUV420H1 c.1815T>C p.S605S Substitution - coding silent Large_intestine COSM1172714 NCOA6 c.3194C>T p.S1065F Substitution - Missense Oesophagus COSM1075252 JARID2 c.2657C>T p.S886L Substitution - Missense Endometrium COSM2061639 KDM4D c.749C>T p.S250L Substitution - Missense Ovary COSM3743929 BAZ2B c.1397G>C p.S466T Substitution - Missense Liver COSM993748 DOT1L c.1565A>G p.N522S Substitution - Missense Endometrium COSM753636 TAF1L c.3403C>G p.Q1135E Substitution - Missense Cervix COSM724827 DIDO1 c.2553C>T p.L851L Substitution - coding silent Lung COSM4413600 JMJD1C c.1980_1981TT>GC p.S661P Substitution - Missense Genital_tract COSM308282 KMT2C c.13080G>A p.W4360* Substitution - Nonsense Biliary_tract COSM1336707 TDRD5 c.452C>A p.S151Y Substitution - Missense Large_intestine COSM895835 POGZ c.1522C>T p.R508* Substitution - Nonsense Endometrium COSM450225 CHD1 c.932A>G p.K311R Substitution - Missense Breast COSM134102 NSD1 c.7322C>T p.P2441L Substitution - Missense Skin COSM1071541 CHD1 c.4847G>T p.R1616M Substitution - Missense Endometrium COSM4021558 PRDM2 c.4049A>G p.K1350R Substitution - Missense Stomach COSM4795908 TDRD6 c.652G>A p.A218T Substitution - Missense Liver COSM4044506 YEATS4 c.156A>G p.K52K Substitution - coding silent Stomach COSM3734328 CREBBP c.6484G>C p.G2162R Substitution - Missense Pancreas COSM1444077 BRPF3 c.1162C>T p.P388S Substitution - Missense Large_intestine COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Bone COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24915 HNF1A c.607C>T p.R203C Substitution - Missense Liver COSM30574 SMARCA4 c.589C>T p.P197S Substitution - Missense Meninges COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM46436 HNF1A c.108C>A p.Y36* Substitution - Nonsense Liver COSM50914 KDM5B c.1993G>T p.E665* Substitution - Nonsense Breast COSM71633 MGA c.7451G>A p.R2484Q Substitution - Missense Ovary COSM71279 KDM3B c.2543A>G p.N848S Substitution - Missense Ovary COSM96444 CREBBP c.5660C>G p.S1887* Substitution - Nonsense Oesophagus COSM107494 TRRAP c.2165C>T p.S722F Substitution - Missense Skin COSM218775 SFMBT1 c.1235C>A p.S412Y Substitution - Missense Pancreas COSM203727 PRDM10 c.543G>A p.A181A Substitution - coding silent Endometrium COSM235699 EZH2 c.324_324delC p.I109fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM240083 HDAC9 c.2795C>T p.T932M Substitution - Missense Prostate COSM240083 HDAC9 c.2795C>T p.T932M Substitution - Missense Breast COSM254833 MYST1 c.419G>A p.R140H Substitution - Missense Central_nervous_system COSM254839 NCOR1 c.733-1G>C p.? Unknown Urinary_tract COSM255052 EP300 c.4372_4377delCCCAAG p.P1460_K1461delPK Deletion - In frame Urinary_tract COSM263763 SMARCA4 c.4200C>T p.I1400I Substitution - coding silent Skin COSM312991 MUM1 c.1455C>A p.D485E Substitution - Missense Lung COSM309432 BAG6 c.344delC p.P115fs*53 Deletion - Frameshift Lung COSM323542 SP140 c.60-2A>T p.? Unknown Lung COSM326647 TCF20 c.1433C>T p.A478V Substitution - Missense Lung COSM347002 ARID2 c.700G>A p.V234I Substitution - Missense Lung COSM345166 ZGPAT c.613G>A p.D205N Substitution - Missense Lung COSM362944 PHF20 c.614A>T p.K205M Substitution - Missense Lung COSM379857 ARID2 c.1719G>T p.T573T Substitution - coding silent Lung COSM421528 KMT2C c.1483G>C p.E495Q Substitution - Missense Urinary_tract COSM425436 LBR c.1112G>A p.G371D Substitution - Missense Breast COSM447433 SMARCA5 c.1759C>A p.L587I Substitution - Missense Breast COSM451576 TDRD6 c.1240T>A p.S414T Substitution - Missense Breast COSM465484 SUV39H2 c.809A>G p.N270S Substitution - Missense Kidney COSM987424 SMCHD1 c.2991T>C p.T997T Substitution - coding silent Endometrium COSM914346 ASXL1 c.1935_1936insT p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1049096 MINA c.1393T>C p.*465Q Nonstop extension Endometrium COSM1026067 NCOA6 c.4901C>T p.A1634V Substitution - Missense Endometrium COSM745819 KMT2C c.166C>T p.R56* Substitution - Nonsense Lung COSM758308 BRWD3 c.3728G>T p.G1243V Substitution - Missense Lung COSM1692724 DHX30 c.1945G>A p.A649T Substitution - Missense Liver COSM905240 ACTA1 c.592C>T p.R198C Substitution - Missense Endometrium COSM894183 TRIM33 c.1870C>T p.P624S Substitution - Missense Endometrium COSM1034767 TCF20 c.2940G>A p.P980P Substitution - coding silent Stomach COSM1071738 PRDM1 c.371G>T p.R124L Substitution - Missense Endometrium COSM971993 SETD6 c.639G>A p.E213E Substitution - coding silent Endometrium COSM1060892 PHF15 c.1131C>A p.P377P Substitution - coding silent Endometrium COSM1124885 TAF1 c.2235C>G p.N745K Substitution - Missense Endometrium COSM1116471 FMR1 c.1424C>T p.P475L Substitution - Missense Endometrium COSM1128704 KAT2A c.370A>G p.K124E Substitution - Missense Prostate COSM1184483 BAZ2A c.4583G>T p.R1528M Substitution - Missense Large_intestine COSM1257664 MGA c.587C>T p.S196F Substitution - Missense Oesophagus COSM1193063 MGA c.6229delA p.R2077fs*74 Deletion - Frameshift Lung COSM1187969 KAT6B c.4940G>C p.S1647T Substitution - Missense Lung COSM1166023 KDM4B c.1631A>G p.H544R Substitution - Missense Large_intestine COSM1158616 TAF1 c.4665+1G>A p.? Unknown Pancreas COSM1606206 KMT2D c.7170A>G p.E2390E Substitution - coding silent Liver COSM1292392 MLL5 c.2627T>G p.F876C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1311636 SHPRH c.2658G>C p.K886N Substitution - Missense Urinary_tract COSM1285103 GABRG1 c.546G>A p.L182L Substitution - coding silent Autonomic_ganglia COSM1296222 ARID1A c.1901C>G p.S634* Substitution - Nonsense Breast COSM1301786 GTF3C1 c.1281G>C p.K427N Substitution - Missense Urinary_tract COSM1406114 SP140_ENST00000392045 c.2007_2008insA p.R673fs*9 Insertion - Frameshift Large_intestine COSM1424529 PBRM1 c.4590C>T p.D1530D Substitution - coding silent Large_intestine COSM1444906 TDRD6 c.5117C>T p.A1706V Substitution - Missense Skin COSM1357570 TRIM66 c.887C>T p.P296L Substitution - Missense Large_intestine COSM1511960 PRMT8 c.462G>A p.K154K Substitution - coding silent Skin COSM1552808 PRDM14 c.1574C>G p.S525C Substitution - Missense Cervix COSM1611194 ASXL3 c.323C>A p.A108E Substitution - Missense Liver COSM1623571 ATAD2 c.2587C>A p.H863N Substitution - Missense Liver COSM1639808 ARID1A c.822delG p.G276fs*87 Deletion - Frameshift Biliary_tract COSM1667708 BRDT c.1696G>T p.E566* Substitution - Nonsense Large_intestine COSM1669952 BRPF1 c.3368G>A p.G1123E Substitution - Missense Ovary COSM1677406 SIRT4 c.404G>T p.G135V Substitution - Missense Skin COSM1722544 PRDM9 c.2568G>A p.G856G Substitution - coding silent Skin COSM1742553 VPS72 c.270+6G>C p.? Unknown Urinary_tract COSM1745351 ATAD2 c.831_833delTGA p.D277delD Deletion - In frame Large_intestine COSM1724237 PRMT8 c.91T>C p.S31P Substitution - Missense Large_intestine COSM2059758 PCGF6 c.297_299delGGA p.E99delE Deletion - In frame Large_intestine COSM2098420 CHD4 c.3909T>A p.I1303I Substitution - coding silent Upper_aerodigestive_tract COSM3061781 TCF20 c.2838A>C p.K946N Substitution - Missense Large_intestine COSM3092184 SMARCA2 c.4027C>A p.L1343I Substitution - Missense Large_intestine COSM3069703 DHX30 c.966C>T p.N322N Substitution - coding silent Large_intestine COSM3296310 EPC2 c.2124A>G p.L708L Substitution - coding silent Upper_aerodigestive_tract COSM3489649 SCMH1 c.337C>T p.P113S Substitution - Missense Skin COSM3432136 PHF20L1 c.196C>T p.R66* Substitution - Nonsense Stomach COSM3454804 KDM4D c.694C>T p.P232S Substitution - Missense Skin COSM3467892 RNF17 c.1189G>A p.G397R Substitution - Missense Skin COSM3632987 SND1 c.864C>T p.L288L Substitution - coding silent Skin COSM3633848 TRIM24 c.1377C>T p.F459F Substitution - coding silent Skin COSM3540826 TRIM28 c.1128C>T p.L376L Substitution - coding silent Skin COSM3525845 SETBP1 c.360G>A p.L120L Substitution - coding silent Skin COSM3711920 SRCAP c.8679C>A p.D2893E Substitution - Missense Upper_aerodigestive_tract COSM3756114 SMCHD1 c.1872A>G p.T624T Substitution - coding silent Kidney COSM3755299 SMYD4 c.392G>T p.R131I Substitution - Missense Large_intestine COSM3793336 PHF11 c.151G>A p.D51N Substitution - Missense Urinary_tract COSM3788238 SMARCA2 c.1935+2T>C p.? Unknown Pancreas COSM3849779 LMNB1 c.1349A>G p.D450G Substitution - Missense Stomach COSM3850436 KDM3B c.1757G>T p.G586V Substitution - Missense Stomach COSM3825187 PHF17 c.1238T>G p.V413G Substitution - Missense Breast COSM3834739 MYST3 c.334G>C p.E112Q Substitution - Missense Breast COSM3873502 BRPF3 c.1232A>G p.E411G Substitution - Missense Stomach COSM3880295 STK31 c.1638C>T p.D546D Substitution - coding silent Stomach COSM3974417 SETMAR c.366C>T p.C122C Substitution - coding silent Central_nervous_system COSM4022665 GATAD2B c.207C>T p.G69G Substitution - coding silent Stomach COSM4042348 KMT2D c.12640C>T p.R4214* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3985518 SUV39H2 c.490A>T p.T164S Substitution - Missense Kidney COSM4104560 TCF20 c.1557A>G p.L519L Substitution - coding silent Stomach COSM4118021 SETD2 c.345A>G p.S115S Substitution - coding silent Stomach COSM4122626 PRMT10 c.1868C>T p.S623F Substitution - Missense Stomach COSM4077678 DPF1 c.167T>C p.M56T Substitution - Missense Stomach COSM4057174 MORF4L1 c.152A>C p.K51T Substitution - Missense Stomach COSM4385670 KMT2D c.10391_10392insGCA p.Q3475_H3476insQ Insertion - In frame Haematopoietic_and_lymphoid_tissue COSM4384092 NSD1 c.6673C>T p.P2225S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4390886 SETD2 c.4846G>A p.E1616K Substitution - Missense Breast COSM4605118 NCOR1 c.3227A>C p.Q1076P Substitution - Missense Upper_aerodigestive_tract COSM4603241 KDM6B c.761_762insACCACC p.P264_L265insPP Insertion - In frame Upper_aerodigestive_tract COSM4496099 SETBP1 c.4680C>T p.P1560P Substitution - coding silent Skin COSM4592047 AKAP1 c.1597A>C p.T533P Substitution - Missense Upper_aerodigestive_tract COSM4671297 CDYL2 c.1466C>A p.S489Y Substitution - Missense Large_intestine COSM4663694 ASH1L c.8460G>A p.S2820S Substitution - coding silent Large_intestine COSM4624314 DIDO1 c.3689A>C p.K1230T Substitution - Missense Large_intestine COSM4653354 BAZ2B c.1762G>A p.V588M Substitution - Missense Large_intestine COSM4633730 ARID1A c.804G>A p.Q268Q Substitution - coding silent Large_intestine COSM4656950 TCF20 c.4778C>T p.P1593L Substitution - Missense Large_intestine COSM4623897 DOT1L c.986T>C p.L329P Substitution - Missense Large_intestine COSM4630362 BAHCC1 c.4602G>T p.Q1534H Substitution - Missense Large_intestine COSM4774980 EZH2 c.2188_2189insT p.D730fs*8 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4761798 BRD8 c.245G>C p.R82P Substitution - Missense Stomach COSM4884355 KMT2D c.11011C>T p.Q3671* Substitution - Nonsense Upper_aerodigestive_tract COSM4887723 TRRAP c.3011C>T p.S1004L Substitution - Missense Upper_aerodigestive_tract COSM4934908 ZMYM5 c.122C>G p.P41R Substitution - Missense Liver COSM4840028 PHF8 c.2902C>T p.R968C Substitution - Missense Cervix COSM4949583 KDM6B c.3458G>A p.G1153E Substitution - Missense Liver COSM4953511 TBL1XR1 c.595A>G p.S199G Substitution - Missense Liver COSM4957961 PRDM16 c.3155C>T p.A1052V Substitution - Missense Liver COSM4990128 KMT2A c.6462G>A p.Q2154Q Substitution - coding silent Skin COSM5028761 PRDM15 c.1506C>T p.H502H Substitution - coding silent Breast COSM5048636 PRDM9 c.63G>T p.K21N Substitution - Missense Oesophagus COSM5342305 RNF17 c.1267C>T p.H423Y Substitution - Missense Large_intestine COSM5414958 TBL1XR1 c.563C>T p.S188F Substitution - Missense Endometrium COSM5370972 SIRT1 c.622G>A p.E208K Substitution - Missense Skin COSM5493650 CBX4 c.772_777delAAGAAC p.K258_N259delKN Deletion - In frame Biliary_tract COSM5518713 ARID1B c.1421G>A p.G474D Substitution - Missense Biliary_tract COSM5496141 PHF3 c.4696G>T p.D1566Y Substitution - Missense Biliary_tract COSM5476925 UTY c.1113C>T p.C371C Substitution - coding silent Large_intestine COSM5431104 BRDT c.1824T>G p.D608E Substitution - Missense Oesophagus COSM5455843 FMR1 c.779G>T p.C260F Substitution - Missense Large_intestine COSM5629546 KDM6B c.4683C>A p.I1561I Substitution - coding silent Oesophagus COSM5702524 BAP1 c.161_167delAAGAGCG p.E54fs*16 Deletion - Frameshift Eye COSM5770160 IDH1 c.49G>A p.E17K Substitution - Missense Breast COSM5755763 TCF20 c.1994G>A p.G665E Substitution - Missense Large_intestine COSM5737538 EHMT2 c.1637T>C p.V546A Substitution - Missense Small_intestine COSM5721858 PRDM10 c.170C>T p.S57F Substitution - Missense Skin COSM5696232 PRDM9 c.1198C>A p.Q400K Substitution - Missense Soft_tissue COSM5672661 BPTF c.5710G>T p.V1904L Substitution - Missense Soft_tissue COSM5566182 GATAD2A c.994C>T p.R332W Substitution - Missense Prostate COSM5611459 BAP1 c.1301delA p.D434fs*137 Deletion - Frameshift Pleura COSM5569690 BPTF c.8400G>A p.T2800T Substitution - coding silent Prostate COSM5776402 DIDO1 c.5962C>A p.Q1988K Substitution - Missense Breast COSM5777339 DIDO1 c.2332G>C p.V778L Substitution - Missense Breast COSM5789573 ZMYM3 c.3871A>C p.N1291H Substitution - Missense Breast COSM5833949 ASXL1 c.1851_1852insA p.A619fs*16 Insertion - Frameshift Breast COSM5820673 TDRD5 c.117T>A p.V39V Substitution - coding silent Liver COSM5945662 TET2 c.3803+2T>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5944907 DNMT3A c.2391C>A p.N797K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5948931 CREBBP c.4943_4944insC p.I1649fs*11 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5932224 ELP3 c.1001C>T p.S334L Substitution - Missense Skin COSM5936762 BRWD3 c.3602+3C>T p.? Unknown Skin COSM5909223 EP400 c.4418C>T p.A1473V Substitution - Missense Skin COSM5921219 RAI1 c.3505C>T p.P1169S Substitution - Missense Skin COSM6004560 ASXL1 c.2151G>T p.R717S Substitution - Missense Prostate COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85769 EZH2 c.? p.Y646? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM303909 IKZF1 c.?_?del? p.?fs Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5762253 ATRX c.?_?del? p.? Unknown Central_nervous_system COSM43409 TET2 c.? p.?fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Bone COSM1716776 TET2 c.? p.T313fs*18 Frameshift Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1628156 MEN1 c.972G>A p.L324L Substitution - coding silent Liver COSM1429101 WHSC1 c.2233delA p.K746fs*4 Deletion - Frameshift Large_intestine COSM1027529 ZMYND8 c.998G>T p.R333M Substitution - Missense Endometrium COSM1382745 PCGF2 c.346G>A p.E116K Substitution - Missense Large_intestine COSM5752274 DNMT3A c.851_855+2delACGAGGT p.? Unknown Breast COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM5782382 PBRM1 c.3692-7C>G p.? Unknown Breast COSM923577 KMT2A c.3517T>C p.C1173R Substitution - Missense Endometrium COSM473829 SETBP1 c.1601G>A p.C534Y Substitution - Missense Kidney COSM371186 KMT2C c.6517C>T p.P2173S Substitution - Missense Lung COSM36248 IDH1 c.? p.R132? Substitution - Missense Bone COSM474400 GATAD2A c.650T>C p.L217P Substitution - Missense Kidney COSM4833838 MBD5 c.3727G>A p.E1243K Substitution - Missense Cervix COSM1242202 DNMT3B c.1125C>T p.Y375Y Substitution - coding silent Oesophagus COSM4099092 NCOA3 c.355C>T p.Q119* Substitution - Nonsense Stomach COSM121293 NCOA3 c.1711C>T p.L571L Substitution - coding silent Upper_aerodigestive_tract COSM4423237 ATRX c.5722delG p.D1908fs*4 Deletion - Frameshift Central_nervous_system COSM5672443 TRIM33 c.100G>T p.A34S Substitution - Missense Soft_tissue COSM5041931 RBBP7 c.1098+1G>A p.? Unknown Liver COSM1936500 BAZ2A c.3686G>A p.R1229Q Substitution - Missense Large_intestine COSM4579029 CREBBP c.6933G>A p.P2311P Substitution - coding silent Bone COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Central_nervous_system COSM5735259 PRDM2 c.32C>T p.A11V Substitution - Missense Small_intestine COSM425842 SMYD3 c.443G>T p.S148I Substitution - Missense Breast COSM3845416 ATRX c.124C>G p.Q42E Substitution - Missense Breast COSM53206 ASXL1 c.2324_2324delT p.L775fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM5944936 DNMT3A c.2041A>T p.I681F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM1049132 BRPF1 c.1840C>T p.L614F Substitution - Missense Endometrium COSM1692722 SMARCC1 c.2059_2060CC>TT p.P687F Substitution - Missense Skin COSM1643444 TRRAP c.9772+4C>T p.? Unknown Stomach COSM1215176 KMT2A c.2798G>A p.R933Q Substitution - Missense Large_intestine COSM1048972 SETD5_ENST00000402198 c.560A>G p.K187R Substitution - Missense Endometrium COSM3490659 ORC1 c.1826G>A p.G609E Substitution - Missense Skin COSM1751406 NCOA6 c.3158A>G p.N1053S Substitution - Missense Urinary_tract COSM224027 ASXL1 c.2314G>A p.A772T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3300263 BAZ2B c.3354G>C p.L1118L Substitution - coding silent Upper_aerodigestive_tract COSM3026867 CBX3 c.21A>G p.T7T Substitution - coding silent Large_intestine COSM3733523 NCOR1 c.14G>T p.G5V Substitution - Missense Upper_aerodigestive_tract COSM1225670 SHPRH c.3983C>A p.S1328* Substitution - Nonsense Large_intestine COSM255163 MEN1 c.? p.? Unknown Parathyroid COSM4808151 CHD7 c.8838C>G p.P2946P Substitution - coding silent Pancreas COSM291627 SMARCC2 c.2263G>T p.G755W Substitution - Missense Large_intestine COSM4923121 PHRF1 c.3539G>T p.R1180L Substitution - Missense Liver COSM5791146 PHF1 c.944+1G>C p.? Unknown Breast COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1673589 JHDM1D c.2263C>T p.Q755* Substitution - Nonsense Lung COSM4488605 BRWD1 c.3353C>T p.P1118L Substitution - Missense Skin COSM5444257 DIDO1 c.345G>A p.V115V Substitution - coding silent Oesophagus COSM5015127 BAZ2A_ENST00000379441 c.2167C>T p.R723W Substitution - Missense Kidney COSM3717858 AP001011.3_ENST00000320876 c.3087G>T p.K1029N Substitution - Missense Liver COSM3948542 CREBBP c.7215G>T p.Q2405H Substitution - Missense Ovary COSM87141 TET2 c.3954+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3906172 EHMT1 c.1909G>A p.D637N Substitution - Missense Stomach COSM4533064 UHRF2 c.1944G>A p.K648K Substitution - coding silent Skin COSM5588631 PHIP c.2169G>T p.V723V Substitution - coding silent Skin COSM171193 TRIM28 c.2116C>T p.R706C Substitution - Missense Large_intestine COSM4978916 ZCWPW2 c.424C>G p.L142V Substitution - Missense Oesophagus COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM3589856 MECOM c.2016C>T p.F672F Substitution - coding silent Skin COSM1008154 BAZ2B c.3858A>G p.P1286P Substitution - coding silent Endometrium COSM1560994 RNF134 c.83_84insGCCTCC p.P28_V29insPP Insertion - In frame Large_intestine COSM5899504 ARID1B c.2452C>T p.Q818* Substitution - Nonsense Skin COSM3519943 AKAP1 c.2374C>T p.R792* Substitution - Nonsense Skin COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1589614 L3MBTL4 c.178G>T p.E60* Substitution - Nonsense Endometrium COSM1443747 RING1 c.511delG p.E173fs*14 Deletion - Frameshift Large_intestine COSM1026083 NCOA6 c.3090_3092delGCA p.Q1032delQ Deletion - In frame Large_intestine COSM1684217 KAT6B c.3929_3931delAGG p.E1310delE Deletion - In frame Central_nervous_system COSM1386947 CBX8 c.1077G>A p.E359E Substitution - coding silent Large_intestine COSM6003166 CBX2 c.402C>T p.P134P Substitution - coding silent Prostate COSM87001 DNMT3A c.2644C>A p.R882S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5827144 EP400 c.8182_8184delCAG p.Q2748delQ Deletion - In frame Large_intestine COSM423272 PBRM1 c.1713_1714insTT p.E572fs*16 Insertion - Frameshift Kidney COSM4761085 LMNB1 c.634T>C p.Y212H Substitution - Missense Stomach COSM1454662 ATAD2 c.392G>A p.R131Q Substitution - Missense Large_intestine COSM1122943 KDM5C c.3076C>T p.L1026F Substitution - Missense Endometrium COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Prostate COSM392424 CHD8 c.4710delG p.K1571fs*17 Deletion - Frameshift Lung COSM1245635 ATF7IP c.1764A>T p.K588N Substitution - Missense Oesophagus COSM1063505 HDAC3 c.328G>A p.A110T Substitution - Missense Endometrium COSM4694067 MYST2 c.468C>T p.D156D Substitution - coding silent Large_intestine COSM1123042 SMC1A c.169C>T p.R57W Substitution - Missense Endometrium COSM4837198 MGA c.1529C>T p.T510I Substitution - Missense Cervix COSM4596479 BAHCC1 c.5240A>C p.N1747T Substitution - Missense Upper_aerodigestive_tract COSM1641364 ZMYND8 c.1964delA p.K655fs*14 Deletion - Frameshift Prostate COSM3928840 TIF1 c.2830G>A p.E944K Substitution - Missense Central_nervous_system COSM3446227 PRMT3 c.1571C>T p.S524L Substitution - Missense Skin COSM5878670 CREBBP c.6087G>T p.Q2029H Substitution - Missense Liver COSM5466838 BRPF3 c.844A>G p.T282A Substitution - Missense Large_intestine COSM4383001 KIAA1045 c.508G>T p.A170S Substitution - Missense Large_intestine COSM1049097 MINA c.1354G>A p.V452I Substitution - Missense Endometrium COSM4497546 UBR7 c.499C>T p.L167F Substitution - Missense Skin COSM1999687 KDM1A c.2326C>T p.R776C Substitution - Missense Stomach COSM288033 NCOA3 c.438A>G p.Q146Q Substitution - coding silent Large_intestine COSM4061079 BRD7 c.1526G>A p.R509H Substitution - Missense Stomach COSM88747 CREBBP c.4304A>G p.D1435G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5573359 SUV39H2 c.816+1G>A p.? Unknown Prostate COSM5562083 ZMYND11 c.763C>T p.P255S Substitution - Missense Prostate COSM3634202 JHDM1D c.981C>T p.F327F Substitution - coding silent Skin COSM4491131 NCOA1 c.3752C>T p.P1251L Substitution - Missense Skin COSM254613 CHD6 c.3404G>A p.R1135H Substitution - Missense Urinary_tract COSM6018837 HCFC1 c.228C>T p.I76I Substitution - coding silent Skin COSM1054 SMARCB1 c.869delC p.P290fs*6 Deletion - Frameshift Soft_tissue COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Biliary_tract COSM1100907 CHD7 c.8245C>A p.L2749M Substitution - Missense Endometrium COSM3672272 CHD9 c.8139C>A p.P2713P Substitution - coding silent Prostate COSM3364983 RUVBL1 c.1014C>A p.I338I Substitution - coding silent Kidney COSM5812236 CHD8 c.472A>C p.K158Q Substitution - Missense Liver COSM3142264 CHD1 c.3960_3961insA p.E1321fs*17 Insertion - Frameshift Breast COSM1412249 NCOA3 c.1395delC p.P467fs*15 Deletion - Frameshift Large_intestine COSM3555043 TCF20 c.5526C>T p.I1842I Substitution - coding silent Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5039317 HDAC6 c.3580-1G>A p.? Unknown Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM25183 CHD9 c.2676T>A p.T892T Substitution - coding silent Kidney COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5922927 RAG2 c.880G>A p.D294N Substitution - Missense Skin COSM1448535 JHDM1D c.2805C>T p.G935G Substitution - coding silent Large_intestine COSM4387388 ARID1A c.6776_6783delTGGACATC p.L2259fs*16 Deletion - Frameshift Lung COSM1362057 KMT2D c.2885delG p.G962fs*95 Deletion - Frameshift Large_intestine COSM3993990 KDM3B c.758A>C p.D253A Substitution - Missense Kidney COSM5566948 CHD6 c.2555G>T p.R852L Substitution - Missense Prostate COSM919521 JMJD1C c.284G>A p.R95K Substitution - Missense Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4492929 RERE c.4068C>T p.P1356P Substitution - coding silent Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1286114 MBD1 c.327G>T p.K109N Substitution - Missense Autonomic_ganglia COSM402811 PRDM13 c.2110G>A p.E704K Substitution - Missense Lung COSM5473865 PHF12 c.1544C>T p.P515L Substitution - Missense Large_intestine COSM2810303 ASXL3 c.919G>A p.E307K Substitution - Missense Skin COSM4383596 DNMT3A c.1000_1007delGGCAAATT p.G334fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4460446 PRDM9 c.1166C>T p.P389L Substitution - Missense Liver COSM4441520 CHD1 c.4574C>G p.P1525R Substitution - Missense Large_intestine COSM4997656 PRDM13 c.1181T>C p.V394A Substitution - Missense Large_intestine COSM4725338 SFMBT2 c.8G>T p.S3I Substitution - Missense Large_intestine COSM100064 TET2 c.1664_1664delC p.P555fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1034581 EP300 c.6950G>T p.R2317L Substitution - Missense Endometrium COSM1287658 RNF17 c.1147G>A p.A383T Substitution - Missense Autonomic_ganglia COSM1128962 CREBBP c.6795G>A p.A2265A Substitution - coding silent Prostate COSM28803 KDM6A c.1-?_225+?del p.? Unknown Oesophagus COSM431495 SMARCC2 c.2752G>A p.E918K Substitution - Missense Breast COSM1621744 CDYL c.763G>A p.G255R Substitution - Missense Liver COSM4383845 TET2 c.2309_2310delAA p.E772fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1125495 ATRX c.1841G>A p.G614D Substitution - Missense Endometrium COSM2265229 ZMYM2 c.1653T>C p.C551C Substitution - coding silent Upper_aerodigestive_tract COSM1286216 MLL5 c.5276C>A p.P1759Q Substitution - Missense Autonomic_ganglia COSM1569324 SMARCA2 c.1489C>T p.R497W Substitution - Missense Large_intestine COSM3189314 EZH1 c.573G>T p.E191D Substitution - Missense Large_intestine COSM5517511 DPF1 c.1018C>T p.R340W Substitution - Missense Biliary_tract COSM3203615 MECOM c.1530A>G p.P510P Substitution - coding silent Upper_aerodigestive_tract COSM730723 SETD2 c.5599G>T p.V1867F Substitution - Missense Lung COSM3713703 EP300 c.6856C>A p.P2286T Substitution - Missense Upper_aerodigestive_tract COSM51200 ASXL1 c.1888_1910del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM126806 KMT2C c.12835C>T p.Q4279* Substitution - Nonsense Large_intestine COSM1580014 ACTR5 c.1208T>C p.L403S Substitution - Missense Central_nervous_system COSM4689715 HDAC8 c.490C>T p.R164* Substitution - Nonsense Large_intestine COSM3548802 DIDO1 c.1770C>T p.F590F Substitution - coding silent Skin COSM3631924 PHF14 c.1781C>T p.P594L Substitution - Missense Skin COSM5074322 CHD8 c.7493_7495delACC p.H2498delH Deletion - In frame Large_intestine COSM4950811 NCOR1 c.6050A>G p.Y2017C Substitution - Missense Liver COSM164342 SIRT7 c.499C>G p.Q167E Substitution - Missense Breast COSM4681222 EPC1 c.558_559delAG p.G187fs*19 Deletion - Frameshift Large_intestine COSM3439583 JMJD1C c.2443C>T p.P815S Substitution - Missense Skin COSM3402355 CHD9 c.2942G>T p.G981V Substitution - Missense Central_nervous_system COSM1027546 NCOA3 c.3786G>A p.Q1262Q Substitution - coding silent Endometrium COSM942095 MBD6 c.2888G>T p.S963I Substitution - Missense Endometrium COSM3392518 ACTR8 c.1358G>T p.G453V Substitution - Missense Pancreas COSM84489 SMARCA4 c.3469C>T p.R1157W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4440699 TBL1XR1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5781143 DNMT1 c.1951C>T p.R651W Substitution - Missense Breast COSM5427839 ACTL6B c.793C>T p.Q265* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3463364 SMARCC2 c.3382G>A p.G1128S Substitution - Missense Skin COSM941721 BAZ2A_ENST00000379441 c.5548G>T p.G1850* Substitution - Nonsense Endometrium COSM1188631 KDM2B c.365C>G p.S122C Substitution - Missense Lung COSM985965 SIRT7 c.729G>A p.G243G Substitution - coding silent Endometrium COSM4046338 ZMYM5 c.179T>A p.V60D Substitution - Missense Stomach COSM5727564 SETD1B c.608G>A p.G203D Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM264851 ZMYND11 c.602C>T p.A201V Substitution - Missense Stomach COSM1470865 CHD2 c.275G>A p.R92Q Substitution - Missense Prostate COSM6012491 EYA4 c.1569T>C p.D523D Substitution - coding silent Skin COSM5719369 ASH1L c.2433C>T p.S811S Substitution - coding silent Skin COSM4058025 CHD2 c.2706T>C p.H902H Substitution - coding silent Stomach COSM72635 SHPRH c.2149G>A p.A717T Substitution - Missense Ovary COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3812151 KMT2D c.15494T>G p.V5165G Substitution - Missense Breast COSM4474799 KDM6B c.1942C>T p.P648S Substitution - Missense Skin COSM4625770 RING1 c.1065C>T p.G355G Substitution - coding silent Large_intestine COSM3712655 ASXL3 c.1244C>G p.S415C Substitution - Missense Upper_aerodigestive_tract COSM5944530 EZH2 c.2227_2228insGGT p.G743_I744insC Insertion - In frame Haematopoietic_and_lymphoid_tissue COSM1330434 TRRAP c.7583C>G p.P2528R Substitution - Missense Ovary COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3871165 ATF7IP c.902C>T p.P301L Substitution - Missense Skin COSM254904 PRDM10 c.82C>G p.P28A Substitution - Missense Urinary_tract COSM1125883 BRWD3 c.919C>T p.R307C Substitution - Missense Breast COSM3466329 PHC1 c.1978C>T p.P660S Substitution - Missense Skin COSM144589 DNMT3A c.? p.F751L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1472097 PRDM14 c.335C>T p.P112L Substitution - Missense Prostate COSM21486 HNF1A c.872delC p.P291fs*51 Deletion - Frameshift Large_intestine COSM6012206 HDGFL1 c.83G>A p.R28K Substitution - Missense Skin COSM5976267 EZH2 c.1230G>A p.S410S Substitution - coding silent Upper_aerodigestive_tract COSM5903259 BRWD1 c.796C>T p.L266F Substitution - Missense Skin COSM961980 TP53BP1 c.1887G>A p.P629P Substitution - coding silent Endometrium COSM4654698 LBR c.1505G>A p.R502Q Substitution - Missense Large_intestine COSM5944119 ASXL1 c.2950A>T p.K984* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1424600 SFMBT1 c.6C>T p.N2N Substitution - coding silent Large_intestine COSM5487220 SETD2 c.4187_4188insC p.E1396fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4493099 BRWD1 c.409C>T p.P137S Substitution - Missense Skin COSM4186698 ARID1B c.5110C>A p.Q1704K Substitution - Missense Kidney COSM4115537 FXR1 c.357A>G p.K119K Substitution - coding silent Stomach COSM3791466 RAG2 c.1044G>C p.L348F Substitution - Missense Cervix COSM1339917 ACTA1 c.401T>C p.M134T Substitution - Missense Large_intestine COSM697926 BAZ1A c.4292G>A p.G1431E Substitution - Missense Lung COSM1630550 SMCHD1 c.760G>C p.G254R Substitution - Missense Liver COSM5656347 KMT2D c.10927_10929delCAG p.Q3649delQ Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM4820115 SUV39H1 c.397C>A p.Q133K Substitution - Missense Cervix COSM162837 NCOA3 c.2222T>C p.L741P Substitution - Missense Breast COSM3404179 DPF1 c.215C>T p.T72M Substitution - Missense Central_nervous_system COSM4058027 CHD2 c.2977A>G p.M993V Substitution - Missense Stomach COSM1465506 SMARCA1 c.2783G>A p.R928Q Substitution - Missense Large_intestine COSM1353244 SIRT3 c.455G>A p.S152N Substitution - Missense Large_intestine COSM1195640 AKAP1 c.371G>A p.R124H Substitution - Missense Lung COSM21483 HNF1A c.379A>T p.N127Y Substitution - Missense Liver COSM1211269 JMJD1C c.6214C>T p.R2072C Substitution - Missense Large_intestine COSM1169641 DNMT3A c.2242G>A p.D748N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5975571 PRDM9 c.783G>A p.W261* Substitution - Nonsense Upper_aerodigestive_tract COSM3296296 EPC2 c.1613G>T p.S538I Substitution - Missense Upper_aerodigestive_tract COSM1635255 STK31 c.86A>C p.H29P Substitution - Missense Liver COSM927107 PHF21A c.1839G>A p.T613T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5602772 AKAP1 c.713C>T p.S238F Substitution - Missense Skin COSM6010016 NCOA1 c.333C>T p.S111S Substitution - coding silent Skin COSM254631 CREBBP c.6983C>T p.S2328L Substitution - Missense Skin COSM1163361 WHSC1 c.4020_4021insC p.E1344fs*>23 Insertion - Frameshift Large_intestine COSM5629598 PRDM9 c.2127T>A p.T709T Substitution - coding silent Oesophagus COSM225885 KMT2C c.1139G>T p.R380L Substitution - Missense Soft_tissue COSM3889377 RAI1 c.2779C>T p.L927L Substitution - coding silent Skin COSM1220352 PHF2 c.2099C>T p.P700L Substitution - Missense Stomach COSM985423 CHD3 c.307C>T p.R103* Substitution - Nonsense Endometrium COSM225885 KMT2C c.1139G>T p.R380L Substitution - Missense Large_intestine COSM4490384 ATF7IP c.3630C>T p.P1210P Substitution - coding silent Skin COSM258115 SUZ12 c.920G>A p.R307H Substitution - Missense Large_intestine COSM51442 ARID1A c.5566C>T p.Q1856* Substitution - Nonsense Endometrium COSM309521 BRD9 c.1318G>T p.E440* Substitution - Nonsense Soft_tissue COSM111693 KAT6B c.3289_3291delGAA p.E1097delE Deletion - In frame Upper_aerodigestive_tract COSM3691909 CHD3 c.5556G>A p.A1852A Substitution - coding silent Large_intestine COSM4927424 KDM5C c.2267T>A p.L756H Substitution - Missense Liver COSM5053535 DMAP1 c.1067C>A p.P356H Substitution - Missense Stomach COSM3604097 GABRG1 c.542+1G>A p.? Unknown Skin COSM318104 TET2 c.1578G>T p.Q526H Substitution - Missense Soft_tissue COSM5599122 BAP1 c.819C>T p.T273T Substitution - coding silent Skin COSM4993837 JARID2 c.39G>T p.K13N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3092510 PHF8 c.1497A>T p.E499D Substitution - Missense Upper_aerodigestive_tract COSM3786754 PHF8 c.1352C>T p.T451M Substitution - Missense Pancreas COSM3715610 TRIM24 c.2717G>A p.R906K Substitution - Missense Upper_aerodigestive_tract COSM417628 PHF12 c.314G>C p.R105P Substitution - Missense Urinary_tract COSM76665 TAF1 c.1877G>A p.G626D Substitution - Missense Ovary COSM5708604 TBL1XR1 c.419_423delCTATA p.T140fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1080961 PHF3 c.4352A>C p.E1451A Substitution - Missense Endometrium COSM232660 L3MBTL4 c.1258C>T p.R420C Substitution - Missense Large_intestine COSM971994 SETD6 c.730C>T p.R244W Substitution - Missense Endometrium COSM1361280 PRMT8 c.356G>T p.G119V Substitution - Missense Large_intestine COSM956527 ARID4A c.1223G>A p.R408K Substitution - Missense Endometrium COSM5944391 ASXL1 c.2473delA p.G826fs*12 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3959197 SETBP1 c.3108A>T p.Q1036H Substitution - Missense Lung COSM4643892 INOC1 c.4219G>A p.V1407I Substitution - Missense Large_intestine COSM250045 ATRX c.2210_2216delTCCTCAA p.I737fs*3 Deletion - Frameshift Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM689656 MEN1 c.1310C>A p.A437D Substitution - Missense Lung COSM3437325 EPC1 c.2336G>A p.R779K Substitution - Missense Skin COSM3752612 MEN1 c.1254C>T p.D418D Substitution - coding silent Liver COSM5000182 EHMT2 c.2077G>T p.A693S Substitution - Missense Pancreas COSM4794800 TDRD6 c.3834G>A p.E1278E Substitution - coding silent Liver COSM4854457 KDM6A c.2021C>A p.S674Y Substitution - Missense Cervix COSM300111 RBBP7 c.1019G>A p.R340H Substitution - Missense Large_intestine COSM280852 ERCC6 c.1345G>A p.V449M Substitution - Missense Large_intestine COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM5978651 ACTR8 c.1194T>G p.F398L Substitution - Missense Upper_aerodigestive_tract COSM710124 SMARCA4 c.2581G>A p.E861K Substitution - Missense Skin COSM1021311 MSH6 c.3852G>A p.T1284T Substitution - coding silent Endometrium COSM5729719 KDM5C c.147C>T p.P49P Substitution - coding silent Skin COSM1075246 JARID2 c.1557C>T p.S519S Substitution - coding silent Endometrium COSM5463562 TDRD6 c.847A>G p.M283V Substitution - Missense Large_intestine COSM1124901 TAF1 c.3488G>A p.R1163H Substitution - Missense Endometrium COSM4072009 INO80C c.224A>G p.E75G Substitution - Missense Stomach COSM4031004 ARID1A c.2060C>A p.P687H Substitution - Missense Stomach COSM5344223 MSH6 c.3800T>C p.M1267T Substitution - Missense Large_intestine COSM4918157 PHF17 c.2012G>C p.G671A Substitution - Missense Liver COSM1412245 NCOA3 c.122A>G p.E41G Substitution - Missense Large_intestine COSM1724609 PHF8 c.2383_2385delGAG p.E795delE Deletion - In frame Large_intestine COSM5989543 RBBP4 c.846T>A p.N282K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4702496 KMT2C c.8525delA p.N2842fs*21 Deletion - Frameshift Large_intestine COSM5789270 PYGO1 c.1029T>A p.C343* Substitution - Nonsense Breast COSM4186157 EP400 c.1929G>T p.Q643H Substitution - Missense Kidney COSM4820572 BRWD3 c.5130G>C p.G1710G Substitution - coding silent Cervix COSM4590631 GLYR1 c.1377C>G p.H459Q Substitution - Missense Upper_aerodigestive_tract COSM3802113 ASH1L c.4970T>C p.V1657A Substitution - Missense Breast COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Biliary_tract COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM87182 TET2 c.5482C>T p.Q1828* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM144490 DNMT3A c.1604_1605ins21 p.S535>YDDDGYQS Complex - insertion inframe Haematopoietic_and_lymphoid_tissue COSM188275 MYST3 c.3201C>T p.I1067I Substitution - coding silent Stomach COSM214066 TDRD6 c.4823T>A p.I1608N Substitution - Missense Breast COSM232386 GATAD2B c.1696C>T p.P566S Substitution - Missense Skin COSM268076 KMT2D c.7955G>A p.R2652Q Substitution - Missense Prostate COSM287889 FMR1 c.1452C>T p.R484R Substitution - coding silent Breast COSM312426 L3MBTL3 c.827A>T p.E276V Substitution - Missense Soft_tissue COSM305592 SMARCC2 c.3478G>A p.G1160R Substitution - Missense Soft_tissue COSM317903 PRDM9 c.2515C>A p.R839R Substitution - coding silent Soft_tissue COSM379334 WHSC1 c.3295G>A p.E1099K Substitution - Missense Large_intestine COSM397894 CHD7 c.3320C>T p.A1107V Substitution - Missense Lung COSM399610 JMJD1C c.2173C>G p.P725A Substitution - Missense Lung COSM441297 BAZ2B c.2875C>G p.L959V Substitution - Missense Breast COSM442599 ATAD2B_ENST00000238789 c.1827T>A p.C609* Substitution - Nonsense Breast COSM482699 PRDM9 c.569C>A p.A190E Substitution - Missense Kidney COSM685451 SFMBT2 c.1214G>T p.S405I Substitution - Missense Lung COSM1049114 BRPF1 c.85C>T p.R29* Substitution - Nonsense Endometrium COSM939998 KMT2D c.12533A>G p.H4178R Substitution - Missense Endometrium COSM940020 KMT2D c.9961C>T p.L3321F Substitution - Missense Endometrium COSM940297 SMARCD1 c.599C>T p.S200F Substitution - Missense Endometrium COSM1019144 NCOA1 c.2064A>C p.K688N Substitution - Missense Endometrium COSM921426 BTAF1 c.1731G>T p.Q577H Substitution - Missense Endometrium COSM757236 KDM6A c.649A>G p.T217A Substitution - Missense Lung COSM703029 CREBBP c.2827C>T p.Q943* Substitution - Nonsense Breast COSM913244 BRDT c.2227G>T p.E743* Substitution - Nonsense Endometrium COSM927029 PRDM11 c.1049C>T p.A350V Substitution - Missense Endometrium COSM948230 TDRD3 c.965G>A p.R322Q Substitution - Missense Endometrium COSM990443 DNMT1 c.2787C>T p.N929N Substitution - coding silent Endometrium COSM999077 UHRF1 c.382G>A p.A128T Substitution - Missense Stomach COSM961203 BAHD1 c.559C>T p.P187S Substitution - Missense Endometrium COSM1074221 SHPRH c.273T>G p.I91M Substitution - Missense Endometrium COSM1095756 ATAD2 c.2375G>A p.R792Q Substitution - Missense Large_intestine COSM1209431 HDGFL1 c.199G>A p.G67S Substitution - Missense Large_intestine COSM1180961 ATXN7 c.2334delC p.T781fs*11 Deletion - Frameshift Large_intestine COSM1254830 ING1 c.767G>A p.C256Y Substitution - Missense Oesophagus COSM1193019 ACTL6A c.487delG p.G163fs*6 Deletion - Frameshift Lung COSM1297351 JMJD1C c.3031C>A p.P1011T Substitution - Missense Urinary_tract COSM1319427 SMC1A c.1757G>A p.R586Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM42029 TET2 c.3646C>T p.R1216* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1512055 KMT2D c.11782C>T p.R3928* Substitution - Nonsense Pancreas COSM1587027 ZMYM2 c.1291_1292insT p.T432fs*2 Insertion - Frameshift Endometrium COSM1581242 KMT2C c.7829G>A p.R2610Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1669834 SP100 c.194C>A p.S65* Substitution - Nonsense Large_intestine COSM1640700 EZH1 c.1898_1899delTG p.V633fs*8 Deletion - Frameshift Stomach COSM1719036 HDAC3 c.1098G>T p.L366L Substitution - coding silent Skin COSM1717664 KMT2D c.13784C>T p.P4595L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1732045 KDM5C c.2962C>T p.H988Y Substitution - Missense Kidney COSM1982996 LMNA c.181C>A p.L61I Substitution - Missense Large_intestine COSM2022710 MGMT c.431C>T p.P144L Substitution - Missense Large_intestine COSM2068743 HDAC7 c.2049C>T p.N683N Substitution - coding silent Central_nervous_system COSM2157190 VPS72 c.1035T>A p.P345P Substitution - coding silent Central_nervous_system COSM2889544 DNMT3B c.1156G>A p.D386N Substitution - Missense Skin COSM2965391 KDM6A c.2416G>A p.A806T Substitution - Missense Upper_aerodigestive_tract COSM3112801 SRCAP c.261G>A p.P87P Substitution - coding silent Central_nervous_system COSM3089681 EHMT1 c.2114G>A p.R705H Substitution - Missense Large_intestine COSM3615950 NIPBL c.3912T>A p.V1304V Substitution - coding silent Skin COSM3598272 BRPF1 c.3174C>T p.S1058S Substitution - coding silent Skin COSM3580215 NCOA1 c.1163C>T p.P388L Substitution - Missense Skin COSM3689039 ASH1L c.1046G>T p.G349V Substitution - Missense Large_intestine COSM3702708 KDM3B c.2832-5C>G p.? Unknown Liver COSM3722549 KMT2D c.3022G>T p.G1008* Substitution - Nonsense Soft_tissue COSM3715045 NSD1 c.1549C>T p.Q517* Substitution - Nonsense Upper_aerodigestive_tract COSM3711800 INOC1 c.250A>G p.T84A Substitution - Missense Upper_aerodigestive_tract COSM3785510 SMARCB1 c.226A>G p.T76A Substitution - Missense Pancreas COSM3799438 ASXL1 c.3835G>A p.V1279M Substitution - Missense Urinary_tract COSM3816024 MGA c.350C>G p.S117* Substitution - Nonsense Soft_tissue COSM3850429 KDM3B c.460T>C p.L154L Substitution - coding silent Stomach COSM3821891 CARM1 c.1560G>C p.L520F Substitution - Missense Breast COSM3899365 ELP3 c.1563A>G p.I521M Substitution - Missense Stomach COSM3872539 APOBEC1 c.462G>A p.R154R Substitution - coding silent Skin COSM3958883 KDM6B c.4334A>G p.Y1445C Substitution - Missense Lung COSM4032866 PRDM11 c.487G>A p.V163M Substitution - Missense Stomach COSM4023189 LMNA c.1871G>A p.R624H Substitution - Missense Stomach COSM4003637 CHD1 c.4335G>A p.E1445E Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4005985 NSD1 c.776C>T p.S259L Substitution - Missense Urinary_tract COSM4049867 CHD8 c.1349G>A p.R450H Substitution - Missense Stomach COSM4044282 CHD4 c.5354G>T p.R1785M Substitution - Missense Stomach COSM4115157 PHC3 c.234G>A p.L78L Substitution - coding silent Stomach COSM4115540 FXR1 c.1182T>C p.N394N Substitution - coding silent Stomach COSM4065088 PHF12 c.2268G>A p.Q756Q Substitution - coding silent Stomach COSM4063039 CDYL2 c.1287G>A p.S429S Substitution - coding silent Stomach COSM4064324 RAI1 c.1018C>T p.P340S Substitution - Missense Stomach COSM4145728 PHF21A c.975C>A p.S325R Substitution - Missense Upper_aerodigestive_tract COSM4154038 SMARCA4 c.1055T>C p.I352T Substitution - Missense Kidney COSM4383919 TET2 c.3788delG p.C1263fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4385141 ACTR5 c.410C>T p.A137V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384722 KMT2D c.8752A>G p.T2918A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4603934 EP300 c.4617+1_4617+2insT p.? Unknown Upper_aerodigestive_tract COSM4598330 BAHCC1 c.5215A>C p.T1739P Substitution - Missense Upper_aerodigestive_tract COSM4575436 KMT2D c.14784_14785insA p.F4929fs*3 Insertion - Frameshift Bone COSM4511718 KMT2D c.7979C>T p.P2660L Substitution - Missense Skin COSM4514077 PHC2 c.961C>T p.P321S Substitution - Missense Skin COSM4582062 SETD4 c.1075A>G p.K359E Substitution - Missense Bone COSM4590278 KDM2A c.310A>G p.S104G Substitution - Missense Upper_aerodigestive_tract COSM4590278 KDM2A c.310A>G p.S104G Substitution - Missense Upper_aerodigestive_tract COSM4591258 PHF3 c.236G>T p.C79F Substitution - Missense Upper_aerodigestive_tract COSM4411402 BRPF3 c.2653A>G p.K885E Substitution - Missense Kidney COSM4725901 SHPRH c.4816G>T p.V1606L Substitution - Missense Large_intestine COSM4770177 PBRM1 c.4576+5_4576+6insGAG p.? Unknown Soft_tissue COSM4671984 CHD3 c.4254G>T p.K1418N Substitution - Missense Large_intestine COSM4672074 CHD6 c.1528G>A p.G510S Substitution - Missense Large_intestine COSM4672100 CHD8 c.3393A>C p.S1131S Substitution - coding silent Large_intestine COSM4672113 CHD9 c.3956G>A p.R1319Q Substitution - Missense Large_intestine COSM4665225 BAZ2A c.4785C>T p.S1595S Substitution - coding silent Large_intestine COSM4611054 ASXL1 c.1935delT p.G646fs*57 Deletion - Frameshift Large_intestine COSM4612057 CHD9 c.7287_7288insA p.R2432fs*12 Insertion - Frameshift Prostate COSM4648938 CHD1 c.1162T>C p.Y388H Substitution - Missense Large_intestine COSM4798619 RSF1 c.2712G>A p.E904E Substitution - coding silent Liver COSM4781527 CHD1 c.1451A>G p.Y484C Substitution - Missense Pancreas COSM4909506 RUVBL1 c.330G>A p.E110E Substitution - coding silent Liver COSM4830895 FXR1 c.298G>C p.D100H Substitution - Missense Cervix COSM4836089 ATAT1 c.66G>C p.L22L Substitution - coding silent Cervix COSM4991202 DNMT1 c.844G>A p.D282N Substitution - Missense Skin COSM4975315 MYST1 c.220G>A p.E74K Substitution - Missense Oesophagus COSM5404071 CHD1 c.83C>T p.S28L Substitution - Missense Skin COSM5407037 KMT2C c.12908C>T p.A4303V Substitution - Missense Skin COSM5355608 PBRM1 c.3645A>G p.V1215V Substitution - coding silent Large_intestine COSM5357385 DAXX c.1486C>A p.P496T Substitution - Missense Large_intestine COSM5451404 PHF13 c.875C>T p.T292M Substitution - Missense Large_intestine COSM5428940 NIPBL c.2134G>T p.E712* Substitution - Nonsense Oesophagus COSM5442217 CHD7 c.7348G>C p.E2450Q Substitution - Missense Oesophagus COSM5441067 BRD4 c.431A>G p.D144G Substitution - Missense Oesophagus COSM5756382 BRPF1 c.2146A>G p.K716E Substitution - Missense Large_intestine COSM5720733 PRDM1 c.1513C>T p.P505S Substitution - Missense Skin COSM5731036 SETD2 c.5904delA p.E1969fs*15 Deletion - Frameshift Breast COSM5597069 MBD5 c.37G>A p.E13K Substitution - Missense Skin COSM5606356 BRD3 c.220C>T p.H74Y Substitution - Missense Skin COSM5752793 KDM6A c.1630_1631insA p.L545fs*8 Insertion - Frameshift Breast COSM5708971 TET2 c.4264_4265delAA p.K1422fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5557844 SETDB1 c.699A>C p.K233N Substitution - Missense Prostate COSM5767436 KAT6B c.2642C>G p.S881C Substitution - Missense Breast COSM5776430 DIDO1 c.1880A>T p.K627M Substitution - Missense Breast COSM5879051 TET2 c.5720T>C p.M1907T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5813288 NIPBL c.6992A>C p.E2331A Substitution - Missense Liver COSM5944252 TET2 c.942delT p.S315fs*32 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5944292 TET2 c.4505delC p.T1502fs*69 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5952634 EP400 c.3468C>T p.H1156H Substitution - coding silent Oesophagus COSM5935751 MTA2 c.190+3G>A p.? Unknown Skin COSM6017864 NCOA6 c.3169C>T p.P1057S Substitution - Missense Skin COSM6013365 KIAA2026_ENST00000399933 c.5182C>T p.Q1728* Substitution - Nonsense Skin COSM5985330 ARID2 c.2939C>G p.T980S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM5006581 PBRM1 c.?ins? p.?fs*? Insertion - Frameshift Kidney COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM53140 TET2 c.? p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4167250 TET2 c.? p.S890A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Bone COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Pancreas COSM52893 PBRM1 c.2616_2617insT p.I873fs*2 Insertion - Frameshift Kidney COSM96543 EP300 c.? p.Q2210_Q2213del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM3738472 TET2 c.? p.P413fs*14 Frameshift Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5596152 ZBTB38 c.2910C>T p.P970P Substitution - coding silent Skin COSM2152702 PRDM9 c.1760G>A p.R587Q Substitution - Missense Central_nervous_system COSM5048887 KMT2C c.3587G>T p.R1196I Substitution - Missense Oesophagus COSM24928 HNF1A c.1072_1073CC>NNNNNNNNNNN p.P358>XXXX Complex - insertion inframe Liver COSM80009 INOC1 c.4137C>T p.D1379D Substitution - coding silent Ovary COSM3508969 SETD1A c.731C>T p.S244F Substitution - Missense Skin COSM3953540 PHRF1 c.1667G>T p.G556V Substitution - Missense Lung COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM918654 ERCC6 c.3437G>T p.S1146I Substitution - Missense Endometrium COSM3522228 ZBTB4 c.1693G>A p.G565R Substitution - Missense Skin COSM4665206 BAZ1A c.2568C>A p.S856S Substitution - coding silent Large_intestine COSM488405 HDAC6 c.1519A>G p.I507V Substitution - Missense Kidney COSM5443630 KMT2D c.2518G>A p.D840N Substitution - Missense Oesophagus COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Upper_aerodigestive_tract COSM5979533 CHD7 c.8428T>A p.F2810I Substitution - Missense Upper_aerodigestive_tract COSM1737774 TAF1L c.4183C>T p.R1395* Substitution - Nonsense Central_nervous_system COSM5720515 NSD1 c.6635C>T p.P2212L Substitution - Missense Skin COSM4771399 KMT2C c.4406C>T p.S1469F Substitution - Missense Breast COSM32682 SETD4 c.1259A>G p.E420G Substitution - Missense Large_intestine COSM1446615 ACTL6B c.73G>A p.A25T Substitution - Missense Large_intestine COSM202338 ZBTB33 c.1048G>A p.V350I Substitution - Missense Central_nervous_system COSM5718949 HELLS c.344C>T p.S115L Substitution - Missense Skin COSM3523214 KDM6B c.2513C>T p.S838F Substitution - Missense Skin COSM4031538 PRDM16 c.2214C>A p.Y738* Substitution - Nonsense Stomach COSM5951052 SMARCA1 c.193C>T p.Q65* Substitution - Nonsense Prostate COSM1315529 PHF16 c.1372G>C p.V458L Substitution - Missense Urinary_tract COSM1179107 KMT2C c.851G>A p.R284Q Substitution - Missense Upper_aerodigestive_tract COSM3642771 TRRAP c.4260C>T p.V1420V Substitution - coding silent Skin COSM4626000 STK31 c.855T>A p.A285A Substitution - coding silent Large_intestine COSM4470171 PHRF1 c.1644C>T p.S548S Substitution - coding silent Skin COSM5752476 ARID1A c.537_546del10 p.G180fs*49 Deletion - Frameshift Breast COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4805288 KMT2A c.10244C>T p.P3415L Substitution - Missense Liver COSM4590120 KDM4B c.2128A>G p.K710E Substitution - Missense Upper_aerodigestive_tract COSM3957392 GTF3C1 c.5816G>T p.G1939V Substitution - Missense Lung COSM5755167 CHD3 c.4210G>A p.G1404R Substitution - Missense Large_intestine COSM4636702 CBX7 c.678C>T p.T226T Substitution - coding silent Large_intestine COSM357048 EYA4 c.1108C>T p.R370C Substitution - Missense Lung COSM4981692 TET2 c.456T>A p.S152R Substitution - Missense Oesophagus COSM726740 HDAC10 c.1626C>G p.F542L Substitution - Missense Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4417676 CHD9 c.2251T>A p.L751M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3663014 EZH2 c.728+7A>G p.? Unknown Liver COSM1662403 KDM4C c.2386A>G p.I796V Substitution - Missense Kidney COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5699788 SETBP1 c.443G>T p.S148I Substitution - Missense Soft_tissue COSM4587051 PHF14 c.1608G>A p.R536R Substitution - coding silent Bone COSM4917942 KDM4C c.135T>C p.G45G Substitution - coding silent Liver COSM221796 TDG c.602A>C p.K201T Substitution - Missense Thyroid COSM4806297 ZMYM3 c.3593A>T p.K1198M Substitution - Missense Liver COSM913240 BRDT c.1543A>G p.K515E Substitution - Missense Endometrium COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1045451 SETD2 c.3809G>A p.R1270H Substitution - Missense Endometrium COSM966696 CHD2 c.855G>A p.A285A Substitution - coding silent Endometrium COSM3805042 ZMYM4 c.3177G>A p.E1059E Substitution - coding silent Breast COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM125564 PRDM5 c.961G>T p.D321Y Substitution - Missense Upper_aerodigestive_tract COSM87001 DNMT3A c.2644C>A p.R882S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5561801 SRCAP c.5804C>T p.P1935L Substitution - Missense Prostate COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM737594 NSD1 c.4919G>C p.C1640S Substitution - Missense Lung COSM1285330 HDAC2 c.941C>A p.T314K Substitution - Missense Autonomic_ganglia COSM5761705 ARID1A c.1882delA p.M628fs*1 Deletion - Frameshift Pancreas COSM730719 SETD2 c.4537T>C p.W1513R Substitution - Missense Lung COSM3749702 ACTR5 c.18C>T p.F6F Substitution - coding silent Large_intestine COSM4926417 DMAP1 c.845G>A p.R282Q Substitution - Missense Liver COSM1364807 PHC1 c.2281T>C p.S761P Substitution - Missense Large_intestine COSM485097 KMT2C c.1299+1G>A p.? Unknown Kidney COSM4666142 BRDT c.2403G>T p.K801N Substitution - Missense Large_intestine COSM302527 L3MBTL4 c.1101G>A p.T367T Substitution - coding silent Skin COSM3636475 KMT2C c.11080C>T p.P3694S Substitution - Missense Skin COSM5904797 SETD7 c.1015C>T p.H339Y Substitution - Missense Skin COSM70507 DNMT1 c.1567A>G p.T523A Substitution - Missense Ovary COSM1348065 ERCC6 c.4203G>A p.L1401L Substitution - coding silent Large_intestine COSM5770075 EP400 c.9216G>T p.Q3072H Substitution - Missense Breast COSM4582113 DNMT3L c.1071G>A p.A357A Substitution - coding silent Bone COSM1348076 ERCC6 c.2124C>T p.S708S Substitution - coding silent Large_intestine COSM1307790 BRWD1 c.2092G>C p.D698H Substitution - Missense Urinary_tract COSM21288 BRD3 c.71delC p.P24fs*24 Deletion - Frameshift Large_intestine COSM27528 MSH6 c.? p.K247I Substitution - Missense Central_nervous_system COSM735575 BRD8 c.1234G>C p.D412H Substitution - Missense Lung COSM4188505 PBRM1 c.102_103delAA p.R35fs*17 Deletion - Frameshift Kidney COSM1311074 PRDM9 c.1377G>A p.R459R Substitution - coding silent Skin COSM5753791 SUV420H1 c.1159G>A p.E387K Substitution - Missense Large_intestine COSM4459116 PHF21B c.1112C>T p.P371L Substitution - Missense Skin COSM139956 ARID2 c.1499-1G>A p.? Unknown Skin COSM3944001 ZMYM4 c.1570-6T>G p.? Unknown Ovary COSM4383807 TET2 c.1480delG p.T495fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3092580 PHF8 c.128C>T p.A43V Substitution - Missense Large_intestine COSM1101406 NCOA2 c.3891G>A p.Q1297Q Substitution - coding silent Endometrium COSM1495694 TET2 c.1800G>A p.M600I Substitution - Missense Kidney COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5984460 SCMH1 c.948G>C p.L316F Substitution - Missense Upper_aerodigestive_tract COSM303879 CTCF c.1130G>A p.R377H Substitution - Missense Breast COSM26906 SMARCB1 c.725G>A p.R242K Substitution - Missense Skin COSM3705051 ASH1L c.4550A>G p.Y1517C Substitution - Missense Liver COSM1377486 SRCAP c.8861T>G p.I2954S Substitution - Missense Large_intestine COSM5210976 MBD1 c.1592delA p.D531fs*7 Deletion - Frameshift Breast COSM4110919 TAF1 c.4778C>T p.A1593V Substitution - Missense Stomach COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM255543 CHD7 c.5307delC p.D1770fs*26 Deletion - Frameshift Central_nervous_system COSM87078 TET2 c.942T>A p.C314* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM987404 AP001011.3_ENST00000320876 c.2729G>A p.G910D Substitution - Missense Endometrium COSM3578911 SP140_ENST00000392045 c.2007G>A p.R669R Substitution - coding silent Skin COSM4916502 MSL3 c.949C>A p.P317T Substitution - Missense Liver COSM347443 TDRD5 c.1985A>G p.E662G Substitution - Missense Lung COSM4499181 ING3 c.536C>T p.A179V Substitution - Missense Skin COSM1329756 DAXX c.895C>T p.R299* Substitution - Nonsense Ovary COSM4527902 TRIM28 c.1498G>C p.D500H Substitution - Missense Skin COSM255049 ARID1A c.5216_5249del34 p.G1740fs*19 Deletion - Frameshift Urinary_tract COSM4139488 KDM4C c.2981T>A p.V994E Substitution - Missense Lung COSM3414373 ATAD2B_ENST00000238789 c.2974-7G>C p.? Unknown Oesophagus COSM3840207 SMYD1 c.771C>A p.N257K Substitution - Missense Breast COSM930495 KAT5 c.975G>T p.E325D Substitution - Missense Endometrium COSM1930657 SMYD2 c.131C>A p.T44K Substitution - Missense Large_intestine COSM121828 SETDB2 c.414G>A p.S138S Substitution - coding silent Endometrium COSM3903660 PHF19 c.1593C>A p.S531S Substitution - coding silent Stomach COSM5802638 NSD1 c.113A>G p.N38S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5652439 TET2 c.4962G>A p.Q1654Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4796063 CHD7 c.3399G>A p.T1133T Substitution - coding silent Liver COSM21887 SMARCC2 c.2703C>G p.I901M Substitution - Missense Stomach COSM5641942 TET2 c.1161C>T p.F387F Substitution - coding silent Oesophagus COSM3451772 DPF2 c.1149C>T p.S383S Substitution - coding silent Skin COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3859824 JARID2 c.1299G>T p.L433L Substitution - coding silent Stomach COSM220393 INOC1 c.526A>T p.K176* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM20659 TAF1L c.2553delA p.A852fs*14 Deletion - Frameshift Large_intestine COSM254837 NCOR1 c.1446G>C p.K482N Substitution - Missense Urinary_tract COSM3832338 KMT2C c.9831A>C p.P3277P Substitution - coding silent Breast COSM1474788 KAT6B c.1786C>G p.R596G Substitution - Missense Breast COSM3879439 SMARCD3 c.1369C>T p.R457C Substitution - Missense Stomach COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM757659 ZMYM3 c.1509C>G p.T503T Substitution - coding silent Lung COSM3095590 ZMYM3 c.2391G>T p.E797D Substitution - Missense Large_intestine COSM4663268 ARID2 c.1795G>A p.V599I Substitution - Missense Large_intestine COSM4952066 EP400 c.8812G>C p.V2938L Substitution - Missense Liver COSM3824905 INTS12 c.66A>G p.S22S Substitution - coding silent Breast COSM5037010 ZCWPW1 c.1170+3G>A p.? Unknown Oesophagus COSM1248223 CHD7 c.3774C>G p.I1258M Substitution - Missense Oesophagus COSM4491774 BAZ1B c.3861C>T p.T1287T Substitution - coding silent Skin COSM994275 LMNB2 c.1494G>A p.T498T Substitution - coding silent Endometrium COSM166283 TET2 c.4661_4664delCAGA p.T1554fs*16 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5998629 KDM4C c.1551G>T p.V517V Substitution - coding silent Prostate COSM693064 ATF7IP c.2132C>A p.P711Q Substitution - Missense Lung COSM1676474 KMT2A c.9457T>G p.L3153V Substitution - Missense Large_intestine COSM908643 ZMYM1 c.1833C>A p.F611L Substitution - Missense Endometrium COSM4400930 BRD9 c.1253A>G p.E418G Substitution - Missense Skin COSM1067093 PRDM9 c.2379T>A p.S793R Substitution - Missense Endometrium COSM1493880 KAT2A c.1973G>A p.R658H Substitution - Missense Kidney COSM982726 SMARCD2 c.1323C>G p.F441L Substitution - Missense Endometrium COSM5754122 PRMT6 c.832G>T p.V278F Substitution - Missense Large_intestine COSM1747727 SETDB1 c.2527G>A p.D843N Substitution - Missense Urinary_tract COSM1243108 BRWD3 c.3364T>C p.S1122P Substitution - Missense Oesophagus COSM5798901 NCOR1 c.7253G>A p.R2418K Substitution - Missense Breast COSM4849089 BPTF c.3170C>A p.S1057* Substitution - Nonsense Cervix COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM39802 ACTR8 c.1190C>T p.T397I Substitution - Missense Central_nervous_system COSM119642 DIDO1 c.6175C>G p.P2059A Substitution - Missense Ovary COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1735242 ZMYM3 c.143delC p.P48fs*65 Deletion - Frameshift Biliary_tract COSM3148799 DNMT1 c.1809C>T p.T603T Substitution - coding silent Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5549138 HDAC7 c.545C>T p.A182V Substitution - Missense Prostate COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3650066 CHD7 c.1060C>T p.P354S Substitution - Missense Skin COSM5784256 CBX5 c.388A>C p.T130P Substitution - Missense Breast COSM198796 PHF2 c.1468delA p.K492fs*6 Deletion - Frameshift Stomach COSM1639855 ZMYM4 c.591_592insT p.D200fs*1 Insertion - Frameshift Stomach COSM5661322 TTF2 c.172G>T p.V58L Substitution - Missense Soft_tissue COSM1209376 HDAC3 c.71T>C p.M24T Substitution - Missense Large_intestine COSM1181044 KMT2C c.13488delT p.F4496fs*21 Deletion - Frameshift Oesophagus COSM4614789 PHF13 c.406_407insG p.L140fs*7 Insertion - Frameshift Large_intestine COSM3637000 HDAC9 c.767C>T p.S256L Substitution - Missense Skin COSM1192753 CBX5 c.317delA p.K106fs*31 Deletion - Frameshift Large_intestine COSM5553517 KMT2D c.14212G>T p.E4738* Substitution - Nonsense Prostate COSM1632263 PHF20 c.1869G>T p.W623C Substitution - Missense Liver COSM5342373 ZMYM4 c.3031-9G>T p.? Unknown Large_intestine COSM4574724 SUV420H1 c.1619G>A p.R540Q Substitution - Missense Bone COSM313085 MYST3 c.2439G>T p.V813V Substitution - coding silent Lung COSM5352412 HNF1A c.712_713ins65 p.R238fs*126 Insertion - Frameshift Liver COSM171492 BRDT c.934G>A p.V312I Substitution - Missense Large_intestine COSM219679 NCOA6 c.5423G>A p.R1808Q Substitution - Missense Large_intestine COSM2155743 HDAC4 c.530A>C p.E177A Substitution - Missense Central_nervous_system COSM1756601 SUV39H1 c.1164C>T p.L388L Substitution - coding silent Urinary_tract COSM431086 KDM5A c.2815G>C p.E939Q Substitution - Missense Breast COSM1580705 CHD3 c.861G>T p.K287N Substitution - Missense Large_intestine COSM4387728 SETD1A c.2517C>T p.N839N Substitution - coding silent Pancreas COSM4634364 MUM1 c.271T>C p.S91P Substitution - Missense Large_intestine COSM5399494 SMARCC1 c.3127C>T p.P1043S Substitution - Missense Skin COSM1197284 ASH1L c.4171C>T p.L1391F Substitution - Missense Lung COSM5459193 NSD1 c.7562C>T p.A2521V Substitution - Missense Large_intestine COSM4805301 SMYD5 c.82C>T p.P28S Substitution - Missense Liver COSM1341566 EYA3 c.1505T>C p.F502S Substitution - Missense Large_intestine COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1730339 PRDM5 c.1747A>T p.S583C Substitution - Missense Liver COSM4603616 EZH2 c.? p.V447D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1666277 MLL5 c.3860G>A p.C1287Y Substitution - Missense Eye COSM1484263 EP300 c.2498C>T p.S833L Substitution - Missense Breast COSM3856749 BRD9 c.1392C>T p.D464D Substitution - coding silent Stomach COSM1067713 NIPBL c.6869T>G p.F2290C Substitution - Missense Endometrium COSM4410460 TRIM33 c.1041-8T>G p.? Unknown Oesophagus COSM929374 PHRF1 c.3011C>T p.A1004V Substitution - Missense Endometrium COSM690313 SUV420H1 c.2551C>T p.P851S Substitution - Missense Skin COSM3875085 PHF3 c.3038T>C p.M1013T Substitution - Missense Stomach COSM77056 ZBTB38 c.1955G>A p.G652D Substitution - Missense Ovary COSM3915312 MECOM c.2191G>A p.E731K Substitution - Missense Skin COSM5789893 CHD3 c.4978G>A p.E1660K Substitution - Missense Breast COSM1756582 PHF16 c.2408C>G p.S803C Substitution - Missense Urinary_tract COSM5758391 TDRD7 c.1554G>A p.Q518Q Substitution - coding silent Bone COSM1239635 NSD1 c.2850A>G p.V950V Substitution - coding silent Oesophagus COSM4730991 SUV420H1 c.1791delA p.E599fs*22 Deletion - Frameshift Large_intestine COSM4014443 ERCC6 c.2856C>T p.G952G Substitution - coding silent Stomach COSM3888646 CHD9 c.6682C>T p.Q2228* Substitution - Nonsense Skin COSM4993948 NCOR1 c.2014C>T p.R672* Substitution - Nonsense Large_intestine COSM3427500 ZCWPW2 c.990G>A p.G330G Substitution - coding silent Large_intestine COSM961508 MGA c.3313C>T p.H1105Y Substitution - Missense Endometrium COSM4590784 ATF7IP c.2647C>A p.Q883K Substitution - Missense Upper_aerodigestive_tract COSM23519 DHX30 c.2280G>A p.K760K Substitution - coding silent Skin COSM5654544 SIRT4 c.586G>T p.A196S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1565938 SMYD1 c.275C>G p.A92G Substitution - Missense Large_intestine COSM225885 KMT2C c.1139G>T p.R380L Substitution - Missense Soft_tissue COSM3758929 AIRE c.681C>T p.G227G Substitution - coding silent Breast COSM5009916 EP400 c.1347C>T p.L449L Substitution - coding silent Large_intestine COSM1051618 SMARCA5 c.2467G>A p.A823T Substitution - Missense Endometrium COSM5897927 GTF3C1 c.742C>T p.H248Y Substitution - Missense Skin COSM693639 KMT2D c.400+1G>A p.? Unknown Liver COSM5963978 PHF16 c.2389G>A p.E797K Substitution - Missense Breast COSM932206 RSF1 c.550G>T p.D184Y Substitution - Missense Endometrium COSM5694278 TET2 c.412C>T p.Q138* Substitution - Nonsense Soft_tissue COSM3731914 MTA1 c.1344+5delG p.? Unknown Stomach COSM1220352 PHF2 c.2099C>T p.P700L Substitution - Missense Large_intestine COSM4949888 ARID1A c.128_129insGGC p.A45_E46insA Insertion - In frame Liver COSM5968690 TET2 c.4298A>G p.E1433G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4383550 DNMT3A c.2158C>G p.R720G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5026968 ATAD2 c.2889A>G p.P963P Substitution - coding silent Breast COSM690581 RSF1 c.3425A>G p.D1142G Substitution - Missense Lung COSM4822220 ATRX c.7033G>A p.V2345M Substitution - Missense Cervix COSM5419972 AP001011.3_ENST00000320876 c.729C>T p.V243V Substitution - coding silent Pancreas COSM707534 BPTF c.5308A>G p.R1770G Substitution - Missense Lung COSM72737 SMARCA4 c.2896C>T p.R966W Substitution - Missense Oesophagus COSM3996118 EYA1 c.1275G>C p.R425R Substitution - coding silent Kidney COSM4855895 KDM2A c.3297C>A p.L1099L Substitution - coding silent Cervix COSM4482429 AKAP1 c.2605C>T p.L869L Substitution - coding silent Skin COSM3421675 MYST2 c.182A>C p.N61T Substitution - Missense Large_intestine COSM4665222 BAZ2A c.5032C>T p.R1678C Substitution - Missense Large_intestine COSM1093710 TRRAP c.9876C>T p.I3292I Substitution - coding silent Stomach COSM4487564 SMARCC2 c.3109C>T p.P1037S Substitution - Missense Skin COSM3432438 MYST3 c.932G>A p.R311Q Substitution - Missense Large_intestine COSM1205622 ERCC6 c.437C>T p.S146F Substitution - Missense Large_intestine COSM3021820 JARID2 c.1388C>T p.A463V Substitution - Missense Large_intestine COSM1642874 EYA4 c.1570T>C p.S524P Substitution - Missense Stomach COSM337287 DPF2 c.794G>C p.G265A Substitution - Missense Lung COSM1616090 PRDM15 c.4470G>A p.A1490A Substitution - coding silent Stomach COSM1637533 PRMT5 c.23delG p.G8fs*13 Deletion - Frameshift Bone COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1209389 HDAC6 c.1514A>C p.Q505P Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1245999 BAZ2B c.5589A>T p.E1863D Substitution - Missense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3358923 HELLS c.2154T>G p.V718V Substitution - coding silent Kidney COSM4808559 SFMBT2 c.36C>T p.D12D Substitution - coding silent Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM983875 PHF23 c.548G>A p.R183Q Substitution - Missense Endometrium COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM469789 CHD8 c.1791A>T p.E597D Substitution - Missense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4681123 EP400 c.4319G>A p.R1440H Substitution - Missense Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2270923 MGA c.8294C>T p.T2765M Substitution - Missense Small_intestine COSM52845 PBRM1 c.1620A>C p.R540S Substitution - Missense Kidney COSM4717501 PRDM2 c.2714A>C p.N905T Substitution - Missense Large_intestine COSM5117217 ZMYM1 c.1376C>A p.S459Y Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM674889 PRDM2 c.1221A>C p.R407R Substitution - coding silent Stomach COSM1169698 TET2 c.2131_2131delG p.E711fs*40 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5430096 RUVBL1 c.1354G>A p.D452N Substitution - Missense Oesophagus COSM88007 KMT2A c.4995+1G>A p.? Unknown Central_nervous_system COSM4837668 HDAC6 c.2984C>T p.S995L Substitution - Missense Cervix COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM700641 MGA c.56G>C p.G19A Substitution - Missense Lung COSM1711831 SMARCA4 c.4030C>T p.P1344S Substitution - Missense Skin COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM4967702 TRIM66 c.1981A>C p.N661H Substitution - Missense Pancreas COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM302137 EP400 c.8181A>G p.Q2727Q Substitution - coding silent Stomach COSM86978 IKZF1 c.41-?_715+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1101450 EYA1 c.1217C>T p.T406I Substitution - Missense Endometrium COSM1716583 BAP1 c.2057-?_2190+?del p.? Unknown Eye COSM5555410 MBD6 c.1133G>T p.G378V Substitution - Missense Prostate COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM1045690 DHX30 c.1515C>T p.H505H Substitution - coding silent Endometrium COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM2195863 BAZ1A c.4578delT p.H1527fs*>30 Deletion - Frameshift Large_intestine COSM41741 TET2 c.5618T>C p.I1873T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5025370 PYGO2 c.1200G>C p.L400L Substitution - coding silent Breast COSM480367 PBRM1 c.2128C>T p.R710* Substitution - Nonsense Large_intestine COSM5444039 DIDO1 c.1326G>C p.K442N Substitution - Missense Oesophagus COSM1478798 SRCAP c.8538A>T p.G2846G Substitution - coding silent Breast COSM5814256 KDM4B c.1465G>A p.V489M Substitution - Missense Liver COSM88500 AICDA c.532C>T p.R178C Substitution - Missense Ovary COSM1673582 TIF1 c.2804T>G p.F935C Substitution - Missense Large_intestine COSM1063503 HDAC3 c.510C>T p.D170D Substitution - coding silent Endometrium COSM3818948 RAI1 c.225C>G p.A75A Substitution - coding silent Breast COSM3598858 TET2 c.2044C>T p.H682Y Substitution - Missense Skin COSM1726172 PRDM5 c.1491A>C p.K497N Substitution - Missense Liver COSM3472823 PRDM2 c.2690A>T p.N897I Substitution - Missense Skin COSM1713475 CHD6 c.7985G>A p.G2662E Substitution - Missense Skin COSM297164 BTAF1 c.1907delA p.T638fs*36 Deletion - Frameshift Large_intestine COSM144711 PHF6 c.? p.A311P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1131651 KMT2C c.13319A>G p.Y4440C Substitution - Missense Prostate COSM3373205 DHX30 c.3134G>T p.S1045I Substitution - Missense Thyroid COSM5432101 PRMT7 c.400A>T p.M134L Substitution - Missense Oesophagus COSM471815 CHD9 c.8549T>C p.I2850T Substitution - Missense Kidney COSM12932 TAF1L c.2250G>T p.L750F Substitution - Missense Lung COSM13340 MSH6 c.1453C>T p.Q485* Substitution - Nonsense Central_nervous_system COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM77390 C5orf35 c.871T>A p.F291I Substitution - Missense Ovary COSM72613 SFMBT2 c.164C>T p.A55V Substitution - Missense Ovary COSM87079 TET2 c.945_945delC p.Q317fs*30 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM88606 MYST3 c.2392G>C p.E798Q Substitution - Missense Ovary COSM97046 ASXL1 c.3935C>T p.A1312V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87302 IKZF1 c.308_309ins23 p.R111fs*15 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM87995 PRMT8 c.707T>C p.I236T Substitution - Missense Central_nervous_system COSM110785 TET2 c.4736A>C p.Y1579S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87130 TET2 c.3781C>T p.R1261C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM111631 CREBBP c.2978delC p.P993fs*5 Deletion - Frameshift Ovary COSM112121 PRDM2 c.2104_2105insCTC p.P703_A704insP Insertion - In frame Upper_aerodigestive_tract COSM118136 CHRAC1 c.39G>A p.E13E Substitution - coding silent Ovary COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Central_nervous_system COSM148423 SETBP1 c.3301G>A p.V1101I Substitution - Missense Large_intestine COSM211716 TET2 c.3622A>T p.K1208* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM219097 ASXL1 c.1902_1923del22 p.A636fs*60 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM233335 SFMBT2 c.23C>T p.S8F Substitution - Missense Skin COSM261649 KIAA2026_ENST00000399933 c.3841C>T p.L1281F Substitution - Missense Large_intestine COSM282812 KMT2A c.3180G>T p.E1060D Substitution - Missense Large_intestine COSM307120 SETD8 c.267C>T p.A89A Substitution - coding silent Prostate COSM319438 CHD8 c.3863G>T p.R1288L Substitution - Missense Biliary_tract COSM337316 TDG c.208C>A p.P70T Substitution - Missense Lung COSM377529 SMARCA4 c.4233G>A p.R1411R Substitution - coding silent Lung COSM378816 SND1 c.2604G>T p.E868D Substitution - Missense Lung COSM422553 HDAC6 c.707G>T p.R236L Substitution - Missense Urinary_tract COSM432863 PRMT5 c.1582C>T p.P528S Substitution - Missense Breast COSM470058 ARID4A c.2745A>C p.I915I Substitution - coding silent Kidney COSM979881 HDAC5 c.178C>T p.R60W Substitution - Missense Endometrium COSM750799 NCOA2 c.771C>A p.P257P Substitution - coding silent Lung COSM709184 L3MBTL4 c.1606C>T p.R536W Substitution - Missense Lung COSM703266 SRCAP c.63G>A p.S21S Substitution - coding silent Lung COSM1045654 SMARCC1 c.2518G>T p.E840* Substitution - Nonsense Large_intestine COSM969924 SRCAP c.1896G>A p.M632I Substitution - Missense Endometrium COSM1122947 KDM5C c.2516G>T p.G839V Substitution - Missense Endometrium COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1184953 BRPF1 c.1321A>T p.T441S Substitution - Missense Large_intestine COSM1184486 BAZ2A c.472C>A p.P158T Substitution - Missense Stomach COSM1190245 NCOA6 c.2143C>A p.Q715K Substitution - Missense Lung COSM1190533 PHF16 c.1066G>A p.V356M Substitution - Missense Lung COSM1603701 SFMBT2 c.320G>A p.R107H Substitution - Missense Liver COSM1375536 CHD2 c.515delA p.V175fs*1 Deletion - Frameshift Stomach COSM1375546 CHD2 c.2911_2912insT p.L972fs*26 Insertion - Frameshift Large_intestine COSM1387287 BAHCC1 c.3110A>T p.E1037V Substitution - Missense Large_intestine COSM1416632 TCF20 c.364_365insC p.Q122fs*12 Insertion - Frameshift Large_intestine COSM1411330 NCOA6 c.810G>A p.Q270Q Substitution - coding silent Large_intestine COSM1437262 NIPBL c.1801delA p.K603fs*11 Deletion - Frameshift Breast COSM1465103 MSL3 c.867A>T p.K289N Substitution - Missense Large_intestine COSM1442328 PHF10 c.161G>A p.R54H Substitution - Missense Large_intestine COSM1363123 BAZ2A c.4626_4627insC p.K1543fs*26 Insertion - Frameshift Large_intestine COSM1358323 HCFC2 c.977G>A p.R326Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1489854 EHMT1 c.3043G>A p.V1015M Substitution - Missense Breast COSM1625436 MSL3 c.258G>T p.L86F Substitution - Missense Liver COSM1637747 CHD2 c.3896T>A p.V1299E Substitution - Missense Bone COSM1704624 KMT2A c.905G>A p.R302Q Substitution - Missense Skin COSM1694319 GABRG1 c.7C>T p.P3S Substitution - Missense Skin COSM1748330 EYA3 c.307C>G p.Q103E Substitution - Missense Urinary_tract COSM2036602 PHRF1 c.1591A>G p.S531G Substitution - Missense Large_intestine COSM2059759 RNF134 c.297_299delGGA p.E99delE Deletion - In frame Large_intestine COSM2725350 SMARCA1 c.2852G>A p.R951H Substitution - Missense Large_intestine COSM2738945 NCOR1 c.6397C>T p.P2133S Substitution - Missense Large_intestine COSM2828730 SETD5_ENST00000402198 c.261A>G p.E87E Substitution - coding silent Upper_aerodigestive_tract COSM3089711 EHMT1 c.2877G>T p.Q959H Substitution - Missense Upper_aerodigestive_tract COSM3185390 CAMKMT c.726C>T p.S242S Substitution - coding silent Large_intestine COSM3380118 DNMT3A c.448+7C>T p.? Unknown Pancreas COSM3368235 KMT2A c.4721A>G p.K1574R Substitution - Missense Thyroid COSM3391915 KDM5D c.2174A>G p.N725S Substitution - Missense Pancreas COSM3398028 MEN1 c.465C>T p.S155S Substitution - coding silent Central_nervous_system COSM3509552 CREBBP c.6055G>T p.G2019W Substitution - Missense Skin COSM3434293 TDRD1 c.1369G>A p.E457K Substitution - Missense Skin COSM3461547 KMT2D c.9606C>T p.N3202N Substitution - coding silent Skin COSM3458236 EP400 c.3316C>T p.P1106S Substitution - Missense Skin COSM3474968 ASH1L c.4183C>T p.P1395S Substitution - Missense Skin COSM3642753 TRRAP c.1845C>T p.I615I Substitution - coding silent Skin COSM3567455 MBD5 c.2933C>T p.P978L Substitution - Missense Skin COSM3525458 ASXL3 c.2283C>T p.L761L Substitution - coding silent Skin COSM3663120 CBX3 c.421A>G p.K141E Substitution - Missense Liver COSM3667104 HNF1A c.426C>T p.S142S Substitution - coding silent Liver COSM3800272 BRD1 c.1154G>A p.C385Y Substitution - Missense Urinary_tract COSM3831524 MLL5 c.653C>G p.S218* Substitution - Nonsense Breast COSM3849112 PHF2 c.3240G>C p.Q1080H Substitution - Missense Breast COSM3822597 LMNB2 c.993G>C p.K331N Substitution - Missense Breast COSM3848335 TAF1L c.2028A>G p.S676S Substitution - coding silent Breast COSM3945112 MECOM c.1851C>A p.V617V Substitution - coding silent Lung COSM4020856 TRIM33 c.2184G>T p.P728P Substitution - coding silent Stomach COSM4006667 KMT2C c.3340T>C p.C1114R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4104948 BRD1 c.332C>T p.P111L Substitution - Missense Stomach COSM4093268 DNMT3A c.1307A>G p.Y436C Substitution - Missense Stomach COSM4097609 DNMT3B c.2086T>C p.F696L Substitution - Missense Stomach COSM4061084 BRD7 c.447-1G>T p.? Unknown Stomach COSM4065903 PCGF2 c.781G>A p.D261N Substitution - Missense Stomach COSM4162020 KMT2C c.2189C>A p.S730Y Substitution - Missense Upper_aerodigestive_tract COSM4171093 EP300 c.4347T>G p.H1449Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4288486 TRIM28 c.2433G>C p.E811D Substitution - Missense Large_intestine COSM4385064 ASXL1 c.1123G>A p.V375M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4400291 ASXL3 c.2644C>T p.L882F Substitution - Missense Skin COSM4441775 WHSC1 c.277G>A p.A93T Substitution - Missense Large_intestine COSM4575599 BAZ2A c.4108G>T p.A1370S Substitution - Missense Bone COSM4489369 BAZ1B c.3469C>T p.R1157W Substitution - Missense Skin COSM4456172 SETDB1 c.486_487AG>TA p.Q162_D163>HN Complex - compound substitution Skin COSM4423933 DIDO1 c.6122G>T p.W2041L Substitution - Missense Prostate COSM4411409 POLE3 c.43A>T p.I15F Substitution - Missense Kidney COSM4770177 PBRM1 c.4576+5_4576+6insGAG p.? Unknown Soft_tissue COSM4671980 CHD3 c.2750A>C p.N917T Substitution - Missense Large_intestine COSM4671981 CHD3 c.3548G>A p.R1183Q Substitution - Missense Large_intestine COSM4689727 HDAC9 c.1995G>A p.Q665Q Substitution - coding silent Large_intestine COSM4767987 TTF2 c.117C>T p.F39F Substitution - coding silent Biliary_tract COSM4612443 KAT2B c.2297_2298insC p.M768fs*8 Insertion - Frameshift Large_intestine COSM4633721 CHD4 c.2522C>T p.A841V Substitution - Missense Large_intestine COSM4791080 MECOM c.1527C>G p.L509L Substitution - coding silent Liver COSM4909995 TCF20 c.1283C>G p.P428R Substitution - Missense Liver COSM4920748 PHRF1 c.4872C>A p.D1624E Substitution - Missense Liver COSM4927297 ACTR8 c.1359G>A p.G453G Substitution - coding silent Liver COSM4940319 EYA1 c.405C>A p.G135G Substitution - coding silent Liver COSM4849375 SFMBT1 c.1035C>T p.I345I Substitution - coding silent Cervix COSM4960371 BPTF c.2150G>A p.G717D Substitution - Missense Liver COSM5001990 ATRX c.5579A>G p.N1860S Substitution - Missense Soft_tissue COSM4996602 EYA4 c.55T>A p.S19T Substitution - Missense Upper_aerodigestive_tract COSM4998896 ARID1A c.6301G>A p.D2101N Substitution - Missense Pancreas COSM5024939 EP300 c.6114C>G p.I2038M Substitution - Missense Breast COSM5059332 HDAC11 c.284_285insC p.V98fs*70 Insertion - Frameshift Breast COSM5410986 TAF1L c.933G>A p.W311* Substitution - Nonsense Skin COSM5366485 EP300 c.4351C>A p.H1451N Substitution - Missense Large_intestine COSM5419561 ZMYM3 c.2579_2580GG>AA p.W860* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5499258 MYST1 c.798G>T p.L266L Substitution - coding silent Biliary_tract COSM5507798 ING3 c.565_567delAAT p.N191delN Deletion - In frame Biliary_tract COSM5656043 EPC1 c.1523A>C p.K508T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5728797 BAZ1B c.4109G>A p.R1370K Substitution - Missense Skin COSM5738141 SND1 c.623T>C p.V208A Substitution - Missense Small_intestine COSM5736503 SETD5_ENST00000402198 c.776C>T p.A259V Substitution - Missense Small_intestine COSM5607856 ARID1B c.3488C>T p.P1163L Substitution - Missense Skin COSM5708603 TBL1XR1 c.424_425insTA p.A142fs*8 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5781830 BAP1 c.755G>A p.R252H Substitution - Missense Breast COSM5782331 HCFC2 c.1711G>A p.E571K Substitution - Missense Breast COSM5792554 ATAD2 c.3147T>G p.Y1049* Substitution - Nonsense Breast COSM5801013 SRCAP c.1137_1138insAA p.P381fs*38 Insertion - Frameshift Breast COSM5808776 KDM6B c.314C>T p.A105V Substitution - Missense Liver COSM5944490 TET2 c.836_837insAGAC p.S280fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5945019 TET2 c.1471C>T p.Q491* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5898747 PYGO2 c.178G>A p.E60K Substitution - Missense Skin COSM5894190 ZMYM3 c.1735C>T p.Q579* Substitution - Nonsense Skin COSM5946014 KMT2D c.8830G>C p.E2944Q Substitution - Missense Urinary_tract COSM6001722 TP53BP1 c.320T>C p.V107A Substitution - Missense Prostate COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM4169588 EZH2 c.? p.S624F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5985630 KMT2C c.? p.G148A Substitution - Missense Salivary_gland COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1169685 TET2 c.? p.S1525fs*53 Frameshift Haematopoietic_and_lymphoid_tissue COSM1716785 TET2 c.? p.A1224fs*2 Frameshift Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM133004 ARID1A c.5548_5549insG p.D1850fs*4 Insertion - Frameshift Prostate COSM1716674 ATRX c.3133_3137delAAAAG p.K1045fs*1 Deletion - Frameshift Central_nervous_system COSM164472 SMARCD1 c.958C>T p.Q320* Substitution - Nonsense Breast COSM5642758 ASXL3 c.1735A>G p.T579A Substitution - Missense Oesophagus COSM3854560 PRDM9 c.48G>A p.E16E Substitution - coding silent Stomach COSM5442103 NCOR1 c.2295C>G p.P765P Substitution - coding silent Oesophagus COSM5642737 GTF3C1 c.3204C>T p.S1068S Substitution - coding silent Oesophagus COSM28800 KDM6A c.444-?_564+?del p.? Unknown Breast COSM4617049 TAF3 c.2782G>A p.A928T Substitution - Missense Large_intestine COSM4118105 DHX30 c.645C>A p.S215S Substitution - coding silent Stomach COSM5000119 MECOM c.1913A>G p.D638G Substitution - Missense Pancreas COSM2759336 PHF20 c.1176C>T p.S392S Substitution - coding silent Stomach COSM3487583 ARID1A c.3368C>T p.S1123F Substitution - Missense Skin COSM5970408 TRIM66 c.154C>A p.P52T Substitution - Missense Upper_aerodigestive_tract COSM1472585 SETDB1 c.2288C>G p.S763C Substitution - Missense Breast COSM1355072 PHRF1 c.2003C>A p.P668Q Substitution - Missense Large_intestine COSM4074003 CARM1 c.1675A>G p.I559V Substitution - Missense Stomach COSM1262938 PRDM10 c.2254G>C p.E752Q Substitution - Missense Oesophagus COSM3742264 HDAC5 c.1873G>T p.G625* Substitution - Nonsense Liver COSM3259661 EZH2 c.1184delG p.G395fs*29 Deletion - Frameshift Large_intestine COSM429983 EED c.619C>T p.L207L Substitution - coding silent Soft_tissue COSM20436 TAF1L c.1994delA p.K665fs*4 Deletion - Frameshift Large_intestine COSM5572758 DNMT3A c.1776C>T p.Y592Y Substitution - coding silent Prostate COSM4127485 DPF2 c.194-1G>A p.? Unknown Oesophagus COSM1312895 KMT2C c.1102G>C p.G368R Substitution - Missense Urinary_tract COSM4169264 TDRKH c.1409A>T p.Y470F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6006004 SMARCA2 c.1884A>T p.E628D Substitution - Missense Small_intestine COSM3907698 KDM4C c.3058A>T p.R1020* Substitution - Nonsense Stomach COSM1383978 CBX1 c.12delA p.K4fs*11 Deletion - Frameshift Large_intestine COSM3685189 ACTB c.124-1G>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5702536 BAP1 c.1984-?_2056+?del p.? Unknown Eye COSM398971 SMARCD2 c.1191G>C p.Q397H Substitution - Missense Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM3625709 DAXX c.1233C>T p.A411A Substitution - coding silent Skin COSM3710581 ATF7IP c.665G>C p.G222A Substitution - Missense Upper_aerodigestive_tract COSM3395782 TAF1L c.4963C>G p.P1655A Substitution - Missense Pancreas COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1179107 KMT2C c.851G>A p.R284Q Substitution - Missense Soft_tissue COSM1222837 PYGO1 c.7G>A p.A3T Substitution - Missense Large_intestine COSM5049526 KDM6A c.2450C>T p.S817F Substitution - Missense Oesophagus COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM3664530 ATAD2B_ENST00000238789 c.1591G>T p.A531S Substitution - Missense Breast COSM395486 SETD1B c.946C>T p.L316F Substitution - Missense Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM3411843 KMT2C c.1087G>T p.G363C Substitution - Missense Central_nervous_system COSM1685352 IDH2 c.? p.? Unknown Central_nervous_system COSM4788383 PRMT2 c.427G>T p.D143Y Substitution - Missense Liver COSM1246285 BTAF1 c.4391G>A p.R1464Q Substitution - Missense Oesophagus COSM3578970 SP100 c.2396T>C p.V799A Substitution - Missense Skin COSM4766065 PBRM1 c.4066_4067ins? p.M1356fs Insertion - Frameshift Soft_tissue COSM96458 CREBBP c.7105C>A p.P2369T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41292 IDH1 c.? p.R132G Substitution - Missense Biliary_tract COSM3602825 WHSC1 c.1255G>A p.G419R Substitution - Missense Skin COSM1239175 JARID2 c.1266delG p.R425fs*36 Deletion - Frameshift Prostate COSM3907635 KDM4C c.2169A>G p.V723V Substitution - coding silent Stomach COSM5707466 EYA2 c.546C>A p.Y182* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4590719 KAT2A c.1583C>T p.S528F Substitution - Missense Upper_aerodigestive_tract COSM3382655 RNF134 c.478G>A p.V160I Substitution - Missense Pancreas COSM1363345 MBD6 c.2074delC p.Q694fs*5 Deletion - Frameshift Pancreas COSM1737881 TET2 c.2285_2285delA p.H762fs*51 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3517615 KAT2A c.1471C>T p.R491C Substitution - Missense Skin COSM5472881 KDM6A c.1972C>T p.R658* Substitution - Nonsense Large_intestine COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4018341 KMT2A c.10220C>T p.P3407L Substitution - Missense Stomach COSM4018306 KMT2A c.4373T>C p.F1458S Substitution - Missense Stomach COSM918678 ERCC6 c.880G>A p.A294T Substitution - Missense Endometrium COSM3594658 SETD2 c.4426C>T p.P1476S Substitution - Missense Skin COSM4915640 CBX3 c.232A>G p.N78D Substitution - Missense Liver COSM4094435 MSH6 c.1349T>C p.V450A Substitution - Missense Stomach COSM3701882 TAF1 c.1715A>G p.Y572C Substitution - Missense Liver COSM1307339 PHF20 c.2301-1G>T p.? Unknown Urinary_tract COSM1645006 SMARCA2 c.3490G>T p.G1164W Substitution - Missense Salivary_gland COSM1161386 CHD6 c.3404G>C p.R1135P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM362993 MLL5 c.1225C>G p.R409G Substitution - Missense Lung COSM1730599 CLOCK c.1234A>G p.I412V Substitution - Missense Liver COSM374920 ARID1A c.5578G>T p.E1860* Substitution - Nonsense Stomach COSM3750243 TRIM33 c.1146A>G p.Q382Q Substitution - coding silent Soft_tissue COSM4728275 SMARCA2 c.1572G>A p.R524R Substitution - coding silent Large_intestine COSM6008962 ARID2 c.3754G>T p.E1252* Substitution - Nonsense Large_intestine COSM4000524 MUM1 c.135T>C p.S45S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM22621 MEN1 c.218_228>CCT p.G73fs*41 Complex - frameshift Pancreas COSM5690585 AIRE c.521G>C p.R174P Substitution - Missense Soft_tissue COSM4405943 PRDM15 c.2853C>T p.H951H Substitution - coding silent Skin COSM415826 KMT2D c.13093C>T p.Q4365* Substitution - Nonsense Urinary_tract COSM5364512 L3MBTL4 c.461-3delT p.? Unknown Large_intestine COSM3401705 BAHD1 c.154C>T p.R52C Substitution - Missense Central_nervous_system COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3625725 PHF1 c.799A>T p.K267* Substitution - Nonsense Skin COSM4512857 BRD8 c.700C>T p.L234L Substitution - coding silent Skin COSM5654080 PHF3 c.1294G>A p.E432K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5405698 PHF3 c.5611C>T p.P1871S Substitution - Missense Skin COSM5893921 JMJD6 c.725G>A p.R242Q Substitution - Missense Skin COSM985470 CHD3 c.2773C>T p.L925F Substitution - Missense Endometrium COSM5403150 NSD1 c.3345G>A p.K1115K Substitution - coding silent Skin COSM1161251 SMARCA4 c.2917C>T p.R973W Substitution - Missense Large_intestine COSM5631391 HDAC1 c.394G>A p.A132T Substitution - Missense Oesophagus COSM3781825 DHX30 c.653C>T p.P218L Substitution - Missense Pancreas COSM1039193 ZBTB38 c.715G>T p.E239* Substitution - Nonsense Endometrium COSM5794798 RTF1 c.248T>C p.L83P Substitution - Missense Breast COSM3463560 BAZ2A c.379T>G p.C127G Substitution - Missense Skin COSM4689970 HELLS c.1528C>T p.R510* Substitution - Nonsense Large_intestine COSM3935122 JMJD1C c.3965C>A p.T1322K Substitution - Missense Oesophagus COSM400066 HDAC9 c.54G>C p.L18L Substitution - coding silent Lung COSM1172257 INOC1 c.2909C>G p.S970C Substitution - Missense Oesophagus COSM444235 ZGPAT c.183C>G p.S61R Substitution - Missense Thyroid COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM738846 CHD1 c.1A>G p.M1V Substitution - Missense Lung COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5778688 BRD8 c.1223G>A p.G408D Substitution - Missense Breast COSM1332873 TRIM33 c.2864C>T p.A955V Substitution - Missense Liver COSM4560257 SRCAP c.8366G>T p.G2789V Substitution - Missense Skin COSM5372042 PRDM10 c.2375C>T p.P792L Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4568477 MBD4 c.116T>C p.V39A Substitution - Missense Skin COSM4016036 TAF3 c.291G>A p.P97P Substitution - coding silent Stomach COSM336015 HNF1A c.757G>T p.G253W Substitution - Missense Lung COSM42013 TET2 c.5456T>G p.L1819* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5448170 PRDM2 c.4095G>A p.T1365T Substitution - coding silent Large_intestine COSM423284 PBRM1 c.3881_3882insC p.I1295fs*21 Insertion - Frameshift Kidney COSM438318 L3MBTL4 c.984T>C p.V328V Substitution - coding silent Breast COSM3394268 PHF3 c.3139C>T p.R1047* Substitution - Nonsense Pancreas COSM4096134 KDM3A c.2803A>G p.S935G Substitution - Missense Stomach COSM5946117 SND1 c.? p.S578N Substitution - Missense Pituitary COSM5517029 SMARCA4 c.4602G>A p.Q1534Q Substitution - coding silent Biliary_tract COSM1365734 ZMYM2 c.3472C>T p.R1158* Substitution - Nonsense Endometrium COSM1360186 EP400 c.8178A>G p.Q2726Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM369651 CREBBP c.4132C>T p.R1378W Substitution - Missense Lung COSM1728358 ARID4A c.2974C>T p.P992S Substitution - Missense Liver COSM4478266 DIDO1 c.2224C>T p.H742Y Substitution - Missense Skin COSM4146853 EP400 c.6646A>C p.T2216P Substitution - Missense Upper_aerodigestive_tract COSM1696224 KDM3B c.4888C>T p.R1630* Substitution - Nonsense Skin COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5396454 SP140_ENST00000392045 c.1255G>A p.E419K Substitution - Missense Skin COSM34192 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM2983318 ZCWPW2 c.73T>C p.Y25H Substitution - Missense Large_intestine COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96419 EP300 c.4195G>T p.D1399Y Substitution - Missense Urinary_tract COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1168035 TET2 c.4053T>G p.Y1351* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5716478 PCGF2 c.351C>T p.V117V Substitution - coding silent Skin COSM1121581 KDM6A c.1246C>T p.L416F Substitution - Missense Endometrium COSM1084547 ING3 c.49G>T p.D17Y Substitution - Missense Endometrium COSM3919885 PRDM9 c.277G>A p.E93K Substitution - Missense Skin COSM85847 MEN1 c.548G>A p.W183* Substitution - Nonsense Skin COSM4574282 SIRT3 c.552C>T p.F184F Substitution - coding silent Bone COSM5770369 SIRT6 c.299A>G p.Q100R Substitution - Missense Breast COSM1108222 TAF1L c.4190G>A p.R1397H Substitution - Missense Endometrium COSM1661670 EP300 c.4519G>A p.D1507N Substitution - Missense Oesophagus COSM896930 ASH1L c.3645G>T p.E1215D Substitution - Missense Endometrium COSM4689594 HCFC1 c.1126C>T p.P376S Substitution - Missense Large_intestine COSM1186267 SETD2 c.3937G>T p.E1313* Substitution - Nonsense Breast COSM2195898 BAZ1A c.1808C>T p.T603I Substitution - Missense Large_intestine COSM1108234 TAF1L c.2778C>A p.S926S Substitution - coding silent Endometrium COSM3053494 SMEK2 c.456G>T p.V152V Substitution - coding silent Upper_aerodigestive_tract COSM3471963 TTF2 c.1310C>T p.P437L Substitution - Missense Skin COSM4793138 ARID1B c.3285G>A p.L1095L Substitution - coding silent Liver COSM996185 SIRT2 c.94G>A p.A32T Substitution - Missense Large_intestine COSM723115 ASXL1 c.3934G>T p.A1312S Substitution - Missense Lung COSM3415211 SFMBT2 c.2085G>A p.R695R Substitution - coding silent Large_intestine COSM23505 RNF134 c.652A>G p.R218G Substitution - Missense Kidney COSM5672569 KMT2D c.14151G>A p.W4717* Substitution - Nonsense Soft_tissue COSM3650679 PRDM14 c.315C>T p.P105P Substitution - coding silent Skin COSM3528096 DNMT1 c.3831C>T p.S1277S Substitution - coding silent Skin COSM4713922 PHF12 c.1163A>C p.Q388P Substitution - Missense Large_intestine COSM4702046 MGMT c.294G>T p.V98V Substitution - coding silent Oesophagus COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3296142 MBD5 c.1599A>C p.L533L Substitution - coding silent Upper_aerodigestive_tract COSM3866547 TDRD1 c.1282G>A p.E428K Substitution - Missense Skin COSM4989124 KDM1A c.1735G>C p.D579H Substitution - Missense Soft_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM908324 PRDM16 c.588C>T p.V196V Substitution - coding silent Endometrium COSM3878701 JHDM1D c.2558T>G p.L853R Substitution - Missense Stomach COSM1587016 ZMYM2 c.3583C>T p.R1195* Substitution - Nonsense Central_nervous_system COSM1680199 L3MBTL4 c.1729C>T p.L577F Substitution - Missense Large_intestine COSM5913428 KMT2D c.15418G>A p.G5140R Substitution - Missense Skin COSM1187970 KAT6B c.5411G>T p.G1804V Substitution - Missense Lung COSM3089768 EHMT1 c.3736G>A p.A1246T Substitution - Missense Large_intestine COSM1756980 SMARCA4 c.1926G>C p.W642C Substitution - Missense Urinary_tract COSM1468492 KDM5C c.3177G>T p.R1059R Substitution - coding silent Large_intestine COSM3774596 ZBTB38 c.2320A>G p.I774V Substitution - Missense Urinary_tract COSM4118019 SETD2 c.1190G>A p.C397Y Substitution - Missense Stomach COSM3608877 BRD8 c.3193C>T p.P1065S Substitution - Missense Skin COSM238022 PRMT2 c.570C>T p.T190T Substitution - coding silent Large_intestine COSM5415248 KMT2C c.5825C>T p.T1942I Substitution - Missense Ovary COSM3365023 ZBTB38 c.2385T>C p.V795V Substitution - coding silent Kidney COSM933550 KDM4D c.1378C>T p.L460L Substitution - coding silent Endometrium COSM5040129 ACTA1 c.367C>T p.Q123* Substitution - Nonsense Liver COSM1108252 TAF1L c.445G>T p.D149Y Substitution - Missense Endometrium COSM5645847 TP53BP1 c.3590_3591insC p.Q1197fs*3 Insertion - Frameshift Oesophagus COSM3720079 EYA2 c.1054G>T p.A352S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4408554 SRCAP c.5280G>T p.V1760V Substitution - coding silent Oesophagus COSM3964350 EP300 c.2830G>T p.A944S Substitution - Missense Lung COSM4499038 RBBP5 c.532C>T p.L178L Substitution - coding silent Skin COSM6002727 EZH1 c.1205-2A>G p.? Unknown Prostate COSM4672070 CHD6 c.3031A>C p.N1011H Substitution - Missense Large_intestine COSM5607848 ARID1B c.1907G>A p.S636N Substitution - Missense Skin COSM255213 MEN1 c.1621A>G p.T541A Substitution - Missense Soft_tissue COSM4918010 BRD7 c.1388T>A p.L463* Substitution - Nonsense Liver COSM4592007 RAI1 c.841_843delCAG p.Q291delQ Deletion - In frame Upper_aerodigestive_tract COSM1162899 TDRD1 c.416_417insA p.L142fs*13 Insertion - Frameshift Large_intestine COSM5550598 ZMYND8 c.2492C>T p.A831V Substitution - Missense Prostate COSM2965361 KDM6A c.1940A>C p.Q647P Substitution - Missense Upper_aerodigestive_tract COSM4915589 AP001011.3_ENST00000320876 c.5752A>T p.K1918* Substitution - Nonsense Liver COSM3758609 EYA2 c.738C>T p.D246D Substitution - coding silent Large_intestine COSM5039643 RTF1 c.1618G>A p.D540N Substitution - Missense Liver COSM4961954 JARID2 c.522G>A p.V174V Substitution - coding silent Pancreas COSM1606150 ARID2 c.5110G>T p.E1704* Substitution - Nonsense Liver COSM5503216 HDAC9 c.1316G>T p.G439V Substitution - Missense Biliary_tract COSM3701800 SMARCA1 c.2443-6T>G p.? Unknown Liver COSM5802772 PHF3 c.3713A>C p.D1238A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1204300 DNMT3B c.1647C>A p.F549L Substitution - Missense Large_intestine COSM268339 SFMBT2 c.211C>A p.Q71K Substitution - Missense Large_intestine COSM3411150 TDRD6 c.2978C>T p.T993M Substitution - Missense Stomach COSM5721127 KMT2C c.5475C>T p.F1825F Substitution - coding silent Skin COSM307105 PRMT8 c.597G>A p.T199T Substitution - coding silent Stomach COSM4614201 IDH1 c.13_14insA p.I5fs*13 Insertion - Frameshift Large_intestine COSM1567726 PRDM9 c.2190C>A p.S730R Substitution - Missense Thyroid COSM225885 KMT2C c.1139G>T p.R380L Substitution - Missense Liver COSM166345 DNMT3A c.? p.? Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4591023 KMT2C c.871C>T p.L291F Substitution - Missense Upper_aerodigestive_tract COSM43407 SETD2 c.2637T>C p.A879A Substitution - coding silent Kidney COSM1560993 PCGF6 c.83_84insGCCTCC p.P28_V29insPP Insertion - In frame Large_intestine COSM4666119 BRD4 c.350A>G p.N117S Substitution - Missense Large_intestine COSM3390469 FMR1 c.1597C>T p.R533W Substitution - Missense Pancreas COSM5205845 SMYD4 c.1919delG p.C640fs*34 Deletion - Frameshift Breast COSM4622112 GATAD2B c.1467G>A p.T489T Substitution - coding silent Large_intestine COSM3113063 SRCAP c.9566G>A p.R3189Q Substitution - Missense Large_intestine COSM4805141 ATXN7 c.589G>A p.G197R Substitution - Missense Liver COSM4166534 TET2 c.? p.F1706fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM5487582 NCOR1 c.3082C>T p.R1028* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM21487 HNF1A c.526+1G>A p.? Unknown Liver COSM2768793 SND1 c.2456G>A p.R819Q Substitution - Missense Large_intestine COSM4603937 NSD1 c.5391_5392insT p.G1800fs*3 Insertion - Frameshift Upper_aerodigestive_tract COSM4991533 EP300 c.4213C>T p.R1405C Substitution - Missense Skin COSM4524184 BRDT c.1246G>A p.E416K Substitution - Missense Skin COSM1732093 SETD2 c.819delA p.E274fs*21 Deletion - Frameshift Kidney COSM1586679 CHD4 c.151C>A p.L51I Substitution - Missense Endometrium COSM487987 PHF6 c.356C>A p.P119H Substitution - Missense Kidney COSM3916904 TET2 c.274G>A p.G92R Substitution - Missense Skin COSM1019243 DNMT3A c.899T>C p.L300P Substitution - Missense Endometrium COSM5572897 DNMT1 c.2971T>C p.Y991H Substitution - Missense Prostate COSM110714 ASXL1 c.3379G>A p.D1127N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4015088 JMJD1C c.6273T>C p.H2091H Substitution - coding silent Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1718089 ARID1A c.6416C>A p.P2139H Substitution - Missense Skin COSM485218 STK31 c.1399C>T p.R467C Substitution - Missense Large_intestine COSM1307480 ZMYND8 c.3186G>T p.G1062G Substitution - coding silent Urinary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1363349 MBD6 c.2337_2338insG p.A783fs*10 Insertion - Frameshift Breast COSM3382279 CHD7 c.3531A>G p.K1177K Substitution - coding silent Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1753556 SMARCA5 c.2565A>T p.K855N Substitution - Missense Urinary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5792857 BRWD3 c.129G>A p.P43P Substitution - coding silent Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM228233 DNMT3L c.61_62GG>AA p.G21>? Complex Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3969772 PRDM7 c.503C>T p.A168V Substitution - Missense Central_nervous_system COSM5998819 ZMYND11 c.1515G>A p.K505K Substitution - coding silent Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5429967 ASXL3 c.2492C>G p.S831C Substitution - Missense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3955837 MTA1 c.676G>T p.A226S Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5361536 KMT2D c.3548G>A p.C1183Y Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3723522 SETD5_ENST00000402198 c.3267T>C p.S1089S Substitution - coding silent Upper_aerodigestive_tract COSM5341468 TTF2 c.2672-7T>G p.? Unknown Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5938513 KDM5C c.4190C>T p.A1397V Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM27522 MSH6 c.? p.E201Q Substitution - Missense Central_nervous_system COSM5714191 EP300 c.1741A>C p.N581H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1636667 ARID1A c.? p.R1637W Substitution - Missense Urinary_tract COSM5064853 ZMYM3 c.583G>A p.V195M Substitution - Missense Stomach COSM325774 MBD6 c.2316G>T p.Q772H Substitution - Missense Pancreas COSM1124901 TAF1 c.3488G>A p.R1163H Substitution - Missense Endometrium COSM1071539 CHD1 c.5085T>C p.V1695V Substitution - coding silent Endometrium COSM1662106 HDAC4 c.2828T>C p.L943P Substitution - Missense Kidney COSM1599757 TAF1 c.1616G>A p.R539Q Substitution - Missense Large_intestine COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4878684 EYA2 c.166C>T p.R56C Substitution - Missense Thyroid COSM4185679 TDRD5 c.2193G>C p.E731D Substitution - Missense Kidney COSM1084050 PHF14 c.1429_1431delCTG p.L478delL Deletion - In frame Endometrium COSM2909135 HDAC4 c.2063G>A p.R688H Substitution - Missense Large_intestine COSM5752245 ARID1A c.6533delA p.D2178fs*22 Deletion - Frameshift Breast COSM4102323 PRMT2 c.489+2T>C p.? Unknown Stomach COSM5748877 BAZ2B c.1291C>T p.R431W Substitution - Missense Pancreas COSM3909973 HDAC4 c.2222C>T p.S741L Substitution - Missense Adrenal_gland COSM4770510 CHD1 c.2915G>T p.G972V Substitution - Missense Autonomic_ganglia COSM4123982 WHSC1 c.428T>G p.I143S Substitution - Missense Stomach COSM3253984 MLL5 c.4569C>A p.P1523P Substitution - coding silent Large_intestine COSM3705751 ARID1A c.5958T>G p.N1986K Substitution - Missense Liver COSM915010 TDRD1 c.659C>A p.S220* Substitution - Nonsense Endometrium COSM1430229 CLOCK c.368_369insT p.L123fs*14 Insertion - Frameshift Large_intestine COSM21039 TAF1L c.219G>T p.L73L Substitution - coding silent Skin COSM5031083 KDM6A c.3337_3338insCTACC p.V1113fs*9 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1167991 ARID2 c.890C>T p.S297F Substitution - Missense Skin COSM3022248 ARID1B c.1592T>C p.V531A Substitution - Missense Large_intestine COSM219133 DNMT3A c.2245C>T p.R749C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3622277 ARID1B c.3722C>T p.P1241L Substitution - Missense Skin COSM5038326 ATAT1 c.798A>C p.P266P Substitution - coding silent Skin COSM745599 HDAC9 c.1916C>T p.A639V Substitution - Missense Lung COSM1388391 SMCHD1 c.3050C>T p.S1017L Substitution - Missense Large_intestine COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1001 SMARCB1 c.517C>T p.P173S Substitution - Missense Soft_tissue COSM23372 EZH2 c.625+1G>A p.? Unknown Skin COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM20440 TAF1 c.1937delA p.K646fs*4 Deletion - Frameshift Large_intestine COSM85090 KMT2C c.13297G>A p.A4433T Substitution - Missense Pancreas COSM78383 PYGO1 c.118C>T p.R40C Substitution - Missense Ovary COSM97180 PRDM1 c.76_95del20 p.V26fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM96383 ASXL1 c.2957A>G p.N986S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM119900 EYA1 c.1009C>T p.H337Y Substitution - Missense Ovary COSM133737 DNMT3A c.2207G>A p.R736H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Upper_aerodigestive_tract COSM148892 KDM3A c.1560C>T p.L520L Substitution - coding silent Stomach COSM41706 TET2 c.4354C>T p.R1452* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM165143 TRIM66 c.1834G>C p.D612H Substitution - Missense Breast COSM201010 ING1 c.586C>T p.R196* Substitution - Nonsense Central_nervous_system COSM225109 TAF1 c.2527C>T p.R843W Substitution - Missense Endometrium COSM227525 KMT2C c.2294A>G p.E765G Substitution - Missense Upper_aerodigestive_tract COSM268311 IDH2 c.950C>G p.S317* Substitution - Nonsense Large_intestine COSM258157 TDRD6 c.1102C>T p.R368* Substitution - Nonsense Large_intestine COSM283259 NIPBL c.7315C>T p.P2439S Substitution - Missense Large_intestine COSM288216 HDAC5 c.1140C>A p.V380V Substitution - coding silent Large_intestine COSM291267 GATAD2B c.424A>T p.M142L Substitution - Missense Large_intestine COSM294807 SFMBT2 c.2044G>A p.D682N Substitution - Missense Pancreas COSM309264 ARID1B c.2693A>C p.Q898P Substitution - Missense Soft_tissue COSM330979 CREBBP c.7285G>T p.D2429Y Substitution - Missense Lung COSM354503 BRD9 c.259G>C p.A87P Substitution - Missense Lung COSM357592 SMARCC1 c.1176G>T p.K392N Substitution - Missense Stomach COSM392205 INO80C c.303_305delGAA p.K101delK Deletion - In frame Large_intestine COSM416496 INOC1 c.236C>T p.S79L Substitution - Missense Urinary_tract COSM450794 ARID1B c.1959G>A p.A653A Substitution - coding silent Large_intestine COSM452672 KMT2C c.13273G>T p.D4425Y Substitution - Missense Kidney COSM469995 METTL21D c.615A>G p.K205K Substitution - coding silent Kidney COSM462387 UHRF2 c.584C>T p.T195M Substitution - Missense Cervix COSM480359 PBRM1 c.2363C>A p.S788* Substitution - Nonsense Kidney COSM1651571 EP300 c.6970_6971insC p.H2324fs*55 Insertion - Frameshift Large_intestine COSM3724528 SMARCA4 c.3168+1G>A p.? Unknown Ovary COSM1017648 SP100 c.755C>T p.A252V Substitution - Missense Endometrium COSM1027537 NCOA3 c.1110G>C p.Q370H Substitution - Missense Endometrium COSM940080 KMT2D c.2918C>T p.T973M Substitution - Missense Endometrium COSM738837 PRDM13 c.2038A>G p.K680E Substitution - Missense Lung COSM908671 ZMYM4 c.1292C>A p.P431H Substitution - Missense Endometrium COSM969215 JMJD5 c.1063C>T p.H355Y Substitution - Missense Endometrium COSM1124869 TAF1 c.670C>T p.P224S Substitution - Missense Endometrium COSM1130419 TCF20 c.417T>C p.F139F Substitution - coding silent Prostate COSM1079915 TDRD6 c.5473G>T p.E1825* Substitution - Nonsense Endometrium COSM1242919 TDRD6 c.2742G>T p.W914C Substitution - Missense Oesophagus COSM1168055 MEN1 c.115_163del49 p.V40fs*63 Deletion - Frameshift Parathyroid COSM1211267 JMJD1C c.3976A>C p.N1326H Substitution - Missense Large_intestine COSM1225376 SETD5_ENST00000402198 c.1040C>A p.A347D Substitution - Missense Large_intestine COSM1299446 KMT2D c.3723C>A p.Y1241* Substitution - Nonsense Urinary_tract COSM1382256 SUZ12 c.427A>G p.K143E Substitution - Missense Large_intestine COSM1419554 ZBTB38 c.2606A>G p.Q869R Substitution - Missense Large_intestine COSM1450168 CBX3 c.26delA p.M11fs*26 Deletion - Frameshift Large_intestine COSM1462174 KIAA1045 c.554G>T p.C185F Substitution - Missense Large_intestine COSM1339915 ACTA1 c.681C>T p.N227N Substitution - coding silent Large_intestine COSM1348877 SFMBT2 c.1794G>T p.E598D Substitution - Missense Large_intestine COSM1342907 KDM4A c.2484+2T>C p.? Unknown Large_intestine COSM1353725 RAG2 c.589C>T p.L197F Substitution - Missense Large_intestine COSM1566684 PBRM1 c.2211A>G p.T737T Substitution - coding silent Soft_tissue COSM1608355 MGA c.9026G>T p.S3009I Substitution - Missense Liver COSM1486703 PRDM9 c.2126C>G p.T709S Substitution - Missense Liver COSM1610924 CBX2 c.236G>C p.R79P Substitution - Missense Liver COSM1580527 ARID1A c.5216C>G p.P1739R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1634392 CHD1 c.114delC p.S38fs*211 Deletion - Frameshift Liver COSM1706820 TDRD3 c.802T>C p.S268P Substitution - Missense Skin COSM1753302 BAP1 c.505C>T p.H169Y Substitution - Missense Urinary_tract COSM42037 TET2 c.4210C>T p.R1404* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM2154706 PCGF6 c.553A>G p.I185V Substitution - Missense Central_nervous_system COSM2099790 YEATS4 c.427-8C>T p.? Unknown Skin COSM2210638 ASH1L c.7597C>T p.R2533C Substitution - Missense Stomach COSM2965389 KDM6A c.2380A>C p.T794P Substitution - Missense Upper_aerodigestive_tract COSM2974780 TRIM28 c.1474C>T p.R492C Substitution - Missense Skin COSM3296311 EPC2 c.2133A>G p.A711A Substitution - coding silent Kidney COSM3294965 ZMYND8 c.588C>T p.P196P Substitution - coding silent Large_intestine COSM3341247 NSD1 c.7067C>T p.T2356M Substitution - Missense Stomach COSM3365348 SETD2 c.4473G>C p.R1491S Substitution - Missense Kidney COSM3393133 PHF15 c.406C>T p.R136C Substitution - Missense Pancreas COSM3479283 TDRD5 c.878G>A p.G293E Substitution - Missense Skin COSM3501102 MGA c.4352C>T p.P1451L Substitution - Missense Skin COSM3463408 SMARCC2 c.67C>T p.Q23* Substitution - Nonsense Skin COSM3630732 ZCWPW1 c.1313G>A p.R438K Substitution - Missense Skin COSM3592024 KAT2B c.833A>T p.Y278F Substitution - Missense Skin COSM3650731 EYA1 c.614C>T p.S205F Substitution - Missense Skin COSM3741396 RERE c.1892A>G p.K631R Substitution - Missense Liver COSM3777099 L3MBTL3 c.1149G>C p.K383N Substitution - Missense Urinary_tract COSM3773833 BAHCC1 c.4960C>T p.L1654L Substitution - coding silent Kidney COSM3817107 CHD2 c.3237G>A p.K1079K Substitution - coding silent Breast COSM3807074 EPC1 c.927A>T p.Q309H Substitution - Missense Breast COSM4018351 KMT2A c.11524G>A p.G3842S Substitution - Missense Stomach COSM4079921 UHRF1 c.451A>G p.N151D Substitution - Missense Stomach COSM4092253 SP140_ENST00000392045 c.884G>C p.R295T Substitution - Missense Stomach COSM4061909 CTCF c.1983G>A p.Q661Q Substitution - coding silent Stomach COSM4129609 NCOR1 c.568C>T p.R190* Substitution - Nonsense Upper_aerodigestive_tract COSM4139341 KMT2C c.9354G>T p.M3118I Substitution - Missense Pancreas COSM4385602 TET2 c.4250_4251insTCTG p.P1419fs*8 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4391383 MPHOSPH8 c.2431G>A p.D811N Substitution - Missense Breast COSM4594560 KMT2C c.2591A>G p.E864G Substitution - Missense Upper_aerodigestive_tract COSM4429239 DNMT3A c.248G>A p.G83D Substitution - Missense Oesophagus COSM4520702 SUV420H2 c.106G>T p.V36F Substitution - Missense Skin COSM4456772 CBX4 c.1020C>T p.P340P Substitution - coding silent Skin COSM4410866 KDM2B c.2805delT p.H936fs*4 Deletion - Frameshift Kidney COSM4702532 MLL5 c.4353A>G p.P1451P Substitution - coding silent Large_intestine COSM4672104 CHD8 c.1008G>T p.K336N Substitution - Missense Large_intestine COSM4732669 TCF20 c.2771A>T p.Q924L Substitution - Missense Large_intestine COSM4682130 EYA2 c.1184A>G p.K395R Substitution - Missense Large_intestine COSM4677373 DHX30 c.1620G>A p.L540L Substitution - coding silent Large_intestine COSM4849319 KDM6B c.4667G>T p.R1556L Substitution - Missense Cervix COSM4826237 TDRD1 c.3337G>C p.D1113H Substitution - Missense Cervix COSM4959104 BTAF1 c.2027G>A p.R676Q Substitution - Missense Liver COSM5000813 SRCAP c.4958C>G p.P1653R Substitution - Missense Pancreas COSM4984989 HNF1A c.1460G>A p.S487N Substitution - Missense Liver COSM5025143 BAP1 c.1993C>T p.Q665* Substitution - Nonsense Eye COSM5017419 HAT1 c.815A>T p.D272V Substitution - Missense Soft_tissue COSM5019699 HNF1A c.864G>C p.G288G Substitution - coding silent Soft_tissue COSM5047351 EP300 c.3806+1G>A p.? Unknown Oesophagus COSM5347142 ARID1A c.1390C>T p.Q464* Substitution - Nonsense Ovary COSM5343620 NCOA3 c.892C>T p.R298* Substitution - Nonsense Large_intestine COSM5345628 EYA1 c.556+6T>C p.? Unknown Large_intestine COSM5414983 APOBEC1 c.1A>G p.M1V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5510244 MLL5 c.1994G>A p.R665H Substitution - Missense Biliary_tract COSM5519850 SCML2 c.1154C>T p.P385L Substitution - Missense Biliary_tract COSM5436904 SETDB1 c.583G>A p.D195N Substitution - Missense Oesophagus COSM5575609 TRIM33 c.1231C>T p.H411Y Substitution - Missense Stomach COSM5758773 BAZ2A_ENST00000379441 c.768C>T p.V256V Substitution - coding silent Bone COSM5720880 HDAC9 c.500G>A p.G167E Substitution - Missense Skin COSM5657201 DUSP1 c.521C>T p.P174L Substitution - Missense Soft_tissue COSM5551436 CHD8 c.3108T>G p.D1036E Substitution - Missense Prostate COSM5571539 KMT2D c.14364G>A p.V4788V Substitution - coding silent Prostate COSM5784431 KMT2A c.928G>A p.E310K Substitution - Missense Breast COSM5879665 ASXL1 c.2118_2119insAC p.Q708fs*18 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5834208 BRD1 c.2358delA p.V787fs*106 Deletion - Frameshift Breast COSM5879948 KDM6A c.3626_3627insTCTGCA p.R1209>SLQ Complex - insertion inframe Haematopoietic_and_lymphoid_tissue COSM5835370 KMT2C c.1942_1943insTTTT p.E648fs*8 Insertion - Frameshift Breast COSM5945646 DNMT3A c.1803G>A p.W601* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5913537 ZMYM5 c.467C>T p.S156F Substitution - Missense Skin COSM5922854 SFMBT2 c.890G>A p.S297N Substitution - Missense Skin COSM5903638 HDAC9 c.2249C>T p.S750L Substitution - Missense Skin COSM5905359 ASH1L c.7370C>T p.S2457F Substitution - Missense Skin COSM5911208 ASH1L c.7075C>T p.H2359Y Substitution - Missense Skin COSM5985863 KMT2D c.4341G>A p.V1447V Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5999139 KAT6B c.6200A>G p.N2067S Substitution - Missense Prostate COSM6005437 HCFC1 c.4301C>A p.S1434Y Substitution - Missense Prostate COSM5969391 ZMYM6 c.1511C>T p.A504V Substitution - Missense Upper_aerodigestive_tract COSM5974153 DIDO1 c.3375C>A p.A1125A Substitution - coding silent Upper_aerodigestive_tract COSM5982483 HAT1 c.645C>T p.L215L Substitution - coding silent Upper_aerodigestive_tract COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM1169665 SMARCB1 c.1_362del362 p.? Unknown Soft_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM523140 IDH2 c.? p.R172L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53310 IDH2 c.? p.R140L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52784 PBRM1 c.1818+1G>A p.? Unknown Kidney COSM1133056 SMARCB1 c.1_986del986 p.? Unknown Central_nervous_system COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5888782 TBL1XR1 c.1382C>T p.S461F Substitution - Missense Skin COSM3727849 TRIM66 c.1888C>G p.L630V Substitution - Missense Upper_aerodigestive_tract COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM4664613 ATRX c.6960T>C p.S2320S Substitution - coding silent Large_intestine COSM4384586 KMT2A c.2557A>C p.K853Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3424624 HCFC1 c.2853C>A p.F951L Substitution - Missense Large_intestine COSM4156878 HDAC6 c.1538G>A p.R513H Substitution - Missense Thyroid COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM397002 BRD4 c.984G>A p.V328V Substitution - coding silent Lung COSM1051610 SMARCA5 c.1756G>A p.D586N Substitution - Missense Endometrium COSM250046 ATRX c.496_496delC p.H166fs*4 Deletion - Frameshift Central_nervous_system COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM3203687 MECOM c.834T>G p.L278L Substitution - coding silent Upper_aerodigestive_tract COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM1343372 ORC1 c.1867G>A p.D623N Substitution - Missense Large_intestine COSM1333454 PRDM2 c.2862C>A p.P954P Substitution - coding silent Large_intestine COSM424062 ASH1L c.4486G>C p.E1496Q Substitution - Missense Breast COSM148008 CREBBP c.3900C>A p.I1300I Substitution - coding silent Oesophagus COSM5915780 ELP3 c.974G>A p.G325E Substitution - Missense Skin COSM3627963 TDRD6 c.4496C>T p.S1499F Substitution - Missense Skin COSM5878972 TET2 c.2397delT p.H800fs*13 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3431515 STK31 c.174C>A p.I58I Substitution - coding silent Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4411949 KDM6A c.? p.S1284* Substitution - Nonsense Urinary_tract COSM1635198 KMT2C c.2185A>G p.N729D Substitution - Missense Skin COSM4442208 EHMT2 c.2196G>T p.E732D Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM211746 TET2 c.5203G>T p.G1735* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5647905 NIPBL c.7532C>G p.S2511* Substitution - Nonsense Oesophagus COSM287712 HELLS c.2061T>C p.D687D Substitution - coding silent Large_intestine COSM325925 NCOA6 c.3238G>C p.V1080L Substitution - Missense Lung COSM5056195 CARM1 c.1061A>G p.K354R Substitution - Missense Stomach COSM5399020 ZCWPW2 c.170C>T p.P57L Substitution - Missense Skin COSM1316759 PRDM10 c.3464A>G p.K1155R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5466444 NIPBL c.2253T>G p.N751K Substitution - Missense Large_intestine COSM3927263 PHF2 c.1176C>T p.P392P Substitution - coding silent Skin COSM896945 ASH1L c.575C>T p.T192M Substitution - Missense Endometrium COSM3464408 CHD4 c.1487C>T p.P496L Substitution - Missense Skin COSM699896 INOC1 c.792G>T p.K264N Substitution - Missense Lung COSM5983818 CHD8 c.4690G>A p.E1564K Substitution - Missense Upper_aerodigestive_tract COSM306072 EZH2 c.2051G>A p.R684H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM76389 SETD6 c.983G>A p.G328E Substitution - Missense Ovary COSM1411087 ASXL1 c.2530_2531insC p.S846fs*5 Insertion - Frameshift Large_intestine COSM1633196 SETD2 c.5736T>G p.T1912T Substitution - coding silent Liver COSM4123997 WHSC1 c.1799G>A p.R600Q Substitution - Missense Stomach COSM5888882 PRDM9 c.1193C>G p.S398* Substitution - Nonsense Skin COSM5368899 RNF17 c.1484A>G p.N495S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM110768 TET2 c.2596C>T p.Q866* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3069687 SMARCC1 c.135C>T p.S45S Substitution - coding silent Bone COSM1167930 ARID2 c.1758C>T p.S586S Substitution - coding silent Skin COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1117755 HCFC1 c.1763C>T p.S588L Substitution - Missense Endometrium COSM5466926 PHIP c.2467G>A p.E823K Substitution - Missense Large_intestine COSM3718650 PRDM9 c.2274C>A p.R758R Substitution - coding silent Upper_aerodigestive_tract COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3357961 SHPRH c.1239G>A p.P413P Substitution - coding silent Stomach COSM3598203 MINA c.324G>A p.G108G Substitution - coding silent Skin COSM4389505 SMARCA4 c.1907C>T p.A636V Substitution - Missense Pancreas COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4109782 SUV39H1 c.431G>A p.R144H Substitution - Missense Stomach COSM5008118 EP400 c.4022G>A p.R1341Q Substitution - Missense Stomach COSM740274 ARID1B c.6018G>T p.T2006T Substitution - coding silent Lung COSM4385264 EP300 c.6266C>G p.A2089G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Endometrium COSM3942126 KMT2C c.10319A>G p.E3440G Substitution - Missense Oesophagus COSM3877889 SND1 c.403C>A p.R135R Substitution - coding silent Stomach COSM4635326 SIRT5 c.618G>A p.R206R Substitution - coding silent Pancreas COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3416638 EP400 c.6432A>C p.E2144D Substitution - Missense Large_intestine COSM1088175 HDAC9 c.1476G>A p.S492S Substitution - coding silent Skin COSM4482106 BRPF3 c.2575C>T p.L859L Substitution - coding silent Skin COSM4766072 DNMT3A c.1239_1240insG p.F414fs*7 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM260044 CDYL c.951C>T p.D317D Substitution - coding silent Large_intestine COSM3622175 JARID2 c.1492C>T p.R498W Substitution - Missense Skin COSM1337079 RNF2 c.924delT p.S310fs*12 Deletion - Frameshift Large_intestine COSM4886769 PRDM12 c.145C>A p.L49I Substitution - Missense Upper_aerodigestive_tract COSM483380 L3MBTL3 c.977G>A p.G326D Substitution - Missense Kidney COSM30592 SMARCA4 c.169delC p.T58fs*36 Deletion - Frameshift Lung COSM4131185 SMARCA4 c.1524T>C p.H508H Substitution - coding silent Soft_tissue COSM1622579 SMARCD3 c.857C>A p.S286Y Substitution - Missense Liver COSM1137503 TCF19 c.138C>T p.P46P Substitution - coding silent Kidney COSM1026079 NCOA6 c.3353C>T p.P1118L Substitution - Missense Endometrium COSM5906208 HCFC1 c.3857C>T p.S1286F Substitution - Missense Skin COSM24596 SMARCB1 c.978C>A p.Y326* Substitution - Nonsense Central_nervous_system COSM5611390 SMARCA2 c.1459_1460AC>TT p.T487F Substitution - Missense Skin COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Central_nervous_system COSM3580253 DNMT3A c.2037G>C p.G679G Substitution - coding silent Skin COSM4839330 ASH1L c.184A>G p.K62E Substitution - Missense Cervix COSM1569747 MSL3 c.956C>T p.T319M Substitution - Missense Large_intestine COSM745827 KMT2C c.945C>T p.G315G Substitution - coding silent Lung COSM1136651 NCOA1 c.354+2T>C p.? Unknown Kidney COSM84115 KMT2A c.6820G>C p.G2274R Substitution - Missense Pancreas COSM1266275 SMEK2 c.2276G>C p.R759T Substitution - Missense Oesophagus COSM3189289 EZH1 c.1473G>A p.Q491Q Substitution - coding silent Large_intestine COSM1994686 AICDA c.22C>T p.R8W Substitution - Missense Liver COSM1196472 CHD6 c.7213G>C p.E2405Q Substitution - Missense Lung COSM3807281 ERCC6 c.2467C>A p.P823T Substitution - Missense Breast COSM4013116 TRDMT1 c.515A>G p.E172G Substitution - Missense Stomach COSM3802049 PYGO2 c.488C>T p.P163L Substitution - Missense Breast COSM1205370 EP300 c.1651C>T p.P551S Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3859988 ARID1B c.4687C>T p.Q1563* Substitution - Nonsense Skin COSM3390707 SMC1A c.2317G>A p.E773K Substitution - Missense Pancreas COSM4827992 PHF21B c.379G>A p.G127S Substitution - Missense Cervix COSM3845308 ZMYM3 c.1172C>T p.A391V Substitution - Missense Breast COSM3922424 MLL5 c.284C>T p.P95L Substitution - Missense Skin COSM3637543 STK31 c.1581C>T p.F527F Substitution - coding silent Skin COSM2965383 KDM6A c.2260A>G p.M754V Substitution - Missense Upper_aerodigestive_tract COSM88743 CREBBP c.4507T>G p.Y1503D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM305571 JHDM1D c.2738G>A p.R913H Substitution - Missense Central_nervous_system COSM223275 NCOA2 c.3416C>T p.S1139F Substitution - Missense Skin COSM5729060 TTF2 c.2446C>T p.L816F Substitution - Missense Skin COSM1364803 PHC1 c.399A>T p.L133L Substitution - coding silent Large_intestine COSM1682427 SCML2 c.1906G>A p.V636M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1706467 EP400 c.8854_8855CC>TT p.P2952L Substitution - Missense Skin COSM971424 CHD9 c.4189C>T p.R1397C Substitution - Missense Endometrium COSM5017959 PRDM2 c.2438C>T p.S813F Substitution - Missense Soft_tissue COSM356706 KDM4D c.79G>A p.E27K Substitution - Missense Lung COSM5607220 ZBTB33 c.1942G>A p.E648K Substitution - Missense Skin COSM5622043 TRIM28 c.845G>A p.R282H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1226914 SMYD1 c.575C>T p.A192V Substitution - Missense Large_intestine COSM4729939 SRCAP c.4462C>T p.P1488S Substitution - Missense Large_intestine COSM1321107 MEAF6 c.238C>T p.R80W Substitution - Missense Ovary COSM3909804 SP140_ENST00000392045 c.811G>A p.E271K Substitution - Missense Skin COSM5889509 EYA3 c.664C>T p.Q222* Substitution - Nonsense Skin COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1719632 NCOA2 c.1506C>T p.I502I Substitution - coding silent Skin COSM693674 KMT2D c.3862G>C p.V1288L Substitution - Missense Lung COSM990437 DNMT1 c.3620G>A p.R1207H Substitution - Missense Endometrium COSM5050674 PRDM10 c.2141C>T p.T714M Substitution - Missense Stomach COSM3931546 HNF1A c.1375C>T p.L459L Substitution - coding silent Liver COSM3554902 L3MBTL2 c.2044G>A p.A682T Substitution - Missense Skin COSM682685 MTF2 c.1178T>C p.I393T Substitution - Missense Lung COSM5611676 HDAC4 c.2164C>T p.L722L Substitution - coding silent Adrenal_gland COSM1465246 ZBTB33 c.563_564insTGA p.D194_V195insD Insertion - In frame Upper_aerodigestive_tract COSM1623574 ATAD2 c.104G>A p.G35D Substitution - Missense Liver COSM1093584 TRRAP c.2368C>A p.L790M Substitution - Missense Endometrium COSM1757208 TRRAP c.6348G>T p.L2116F Substitution - Missense Urinary_tract COSM211679 TET2 c.1157_1157delT p.V386fs*41 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3307242 HDAC9 c.2189C>T p.S730F Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4035914 KDM2A c.2250T>C p.S750S Substitution - coding silent Stomach COSM1297292 ERCC6 c.3877G>A p.A1293T Substitution - Missense Urinary_tract COSM5752832 KMT2C c.9798_9799insG p.I3267fs*59 Insertion - Frameshift Breast COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5368953 HDAC9 c.267G>T p.L89F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM78095 KMT2C c.8911T>G p.S2971A Substitution - Missense Ovary COSM1211253 JARID2 c.146C>T p.A49V Substitution - Missense Large_intestine COSM896913 ASH1L c.6706C>T p.R2236W Substitution - Missense Adrenal_gland COSM1670987 GABRG1 c.1087G>T p.G363* Substitution - Nonsense Large_intestine COSM5816392 KMT2A c.5287G>T p.E1763* Substitution - Nonsense Liver COSM133126 DNMT3A c.2204A>G p.Y735C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5574751 MGA c.6449_6452delTAAG p.S2151fs*10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4384326 KMT2C c.7523C>T p.S2508F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1075191 JARID2 c.147G>A p.A49A Substitution - coding silent Endometrium COSM3963628 EYA2 c.356A>G p.Y119C Substitution - Missense Lung COSM144549 DNMT3A c.? p.P799R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1494075 SIRT7 c.41C>T p.A14V Substitution - Missense Kidney COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Liver COSM1232734 WHSC1 c.275G>A p.G92D Substitution - Missense Large_intestine COSM3600234 PHF17 c.1065G>A p.E355E Substitution - coding silent Skin COSM241864 TDRD7 c.2863C>T p.R955C Substitution - Missense Prostate COSM3160333 PHF3 c.5326C>T p.P1776S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4470392 KMT2D c.1658C>T p.P553L Substitution - Missense Skin COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Bone COSM3461535 KMT2D c.12181C>T p.P4061S Substitution - Missense Skin COSM5062322 KMT2C c.5036C>T p.A1679V Substitution - Missense Stomach COSM5721869 KDM5A c.2979C>T p.S993S Substitution - coding silent Skin COSM4805223 HDAC4 c.2929G>T p.D977Y Substitution - Missense Liver COSM5498465 ATRX c.5698-7delT p.? Unknown Breast COSM289477 PHIP c.3326A>C p.N1109T Substitution - Missense Large_intestine COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM4586872 PHF3 c.2079C>T p.N693N Substitution - coding silent Bone COSM446300 KAT2B c.1536G>T p.L512L Substitution - coding silent Breast COSM1506159 KAT6B c.1966G>A p.G656R Substitution - Missense Prostate COSM3376238 KDM5A c.4592A>C p.E1531A Substitution - Missense Pancreas COSM4051443 ARID4A c.962A>C p.K321T Substitution - Missense Stomach COSM97921 NCOR1 c.2411G>A p.S804N Substitution - Missense Upper_aerodigestive_tract COSM1627645 TAF3 c.439G>A p.G147R Substitution - Missense Liver COSM87172 TET2 c.4824T>G p.Y1608* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4472809 DOT1L c.1807C>T p.R603C Substitution - Missense Skin COSM3204044 PHC3 c.2067C>T p.G689G Substitution - coding silent Large_intestine COSM379127 NCOR1 c.6390A>G p.G2130G Substitution - coding silent Lung COSM5790693 DPF2 c.834G>T p.G278G Substitution - coding silent Breast COSM1292466 KMT2C c.14720G>A p.R4907Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4598734 DOT1L c.3160G>T p.G1054C Substitution - Missense Upper_aerodigestive_tract COSM255454 EHMT1 c.3402C>T p.A1134A Substitution - coding silent Large_intestine COSM3649290 MYST3 c.5427C>T p.T1809T Substitution - coding silent Skin COSM1687525 SCMH1 c.593C>T p.P198L Substitution - Missense Skin COSM1342961 DMAP1 c.1103G>A p.R368Q Substitution - Missense Large_intestine COSM5232762 ARID1A c.1844delC p.S617fs*2 Deletion - Frameshift Breast COSM3567460 MBD5 c.3210G>A p.Q1070Q Substitution - coding silent Skin COSM276281 NCOA3 c.3272A>C p.K1091T Substitution - Missense Large_intestine COSM4553690 PRDM14 c.598G>A p.E200K Substitution - Missense Skin COSM41649 TET2 c.4075C>T p.R1359C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5945426 ASXL1 c.2880G>A p.W960* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1750765 DOT1L c.1369C>G p.H457D Substitution - Missense Urinary_tract COSM3906569 SMARCA2 c.3557C>T p.A1186V Substitution - Missense Stomach COSM2866927 TRRAP c.11461C>T p.R3821C Substitution - Missense Stomach COSM6003109 SMARCD2 c.435G>A p.T145T Substitution - coding silent Prostate COSM4603245 PCGF6 c.84_85insGCCTCC p.P28_V29insAS Insertion - In frame Upper_aerodigestive_tract COSM254631 CREBBP c.6983C>T p.S2328L Substitution - Missense Urinary_tract COSM3376345 YEATS4 c.449T>C p.M150T Substitution - Missense Pancreas COSM748317 TRRAP c.10328C>A p.S3443* Substitution - Nonsense Lung COSM2198254 METTL21D c.138C>T p.A46A Substitution - coding silent Skin COSM4170848 KDM6B c.2251G>A p.V751I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1030719 BRWD1 c.1083C>T p.I361I Substitution - coding silent Endometrium COSM3563669 BRWD3 c.4918C>T p.H1640Y Substitution - Missense Skin COSM5787046 CREBBP c.4277C>T p.T1426M Substitution - Missense Breast COSM118072 WHSC1 c.1017G>A p.E339E Substitution - coding silent Ovary COSM5495849 SND1 c.88delG p.C31fs*60 Deletion - Frameshift Biliary_tract COSM42036 TET2 c.3571C>T p.Q1191* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM377731 TRIM24 c.532G>C p.E178Q Substitution - Missense Lung COSM4960324 LMNB1 c.1021G>A p.D341N Substitution - Missense Liver COSM1375540 CHD2 c.951C>A p.I317I Substitution - coding silent Large_intestine COSM4634327 RERE c.4391A>G p.H1464R Substitution - Missense Large_intestine COSM2068210 KDM5A c.659G>A p.R220H Substitution - Missense Large_intestine COSM170344 ASH1L c.6217C>T p.R2073C Substitution - Missense Large_intestine COSM5021075 MSH6 c.3306T>A p.T1102T Substitution - coding silent Soft_tissue COSM4520984 GABRG1 c.1087G>A p.G363R Substitution - Missense Skin COSM3704282 SMARCC2 c.373A>T p.M125L Substitution - Missense Liver COSM751077 CHD7 c.1245G>A p.P415P Substitution - coding silent Lung COSM979410 KAT2A c.2249C>T p.A750V Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM211721 TET2 c.3812G>C p.C1271S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5098232 ZMYM1 c.1032T>C p.V344V Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM210977 HDAC9 c.1948G>A p.V650I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM921437 BTAF1 c.4093G>A p.E1365K Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3510230 CHD9 c.2815C>T p.H939Y Substitution - Missense Skin COSM218493 CREBBP c.2950A>C p.N984H Substitution - Missense Pancreas COSM3520811 SMARCD2 c.1298C>T p.P433L Substitution - Missense Skin COSM3744615 TP53BP1 c.1059C>G p.D353E Substitution - Missense Large_intestine COSM2952823 TET2 c.5839delA p.V1949fs*1 Deletion - Frameshift Large_intestine COSM3829234 SHPRH c.1175G>A p.R392Q Substitution - Missense Breast COSM3508207 GTF3C1 c.5493C>T p.D1831D Substitution - coding silent Skin COSM5045208 PHF3 c.2275G>A p.E759K Substitution - Missense Oesophagus COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM131570 ASXL1 c.? p.R634fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM292731 CHD1 c.3960delA p.E1321fs*22 Deletion - Frameshift Large_intestine COSM3386059 ARID1A c.6251T>G p.V2084G Substitution - Missense Pancreas COSM4385137 ASXL1 c.3988C>T p.P1330S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1699623 KMT2C c.9376T>C p.F3126L Substitution - Missense Skin COSM4472937 LMNA c.1815C>T p.A605A Substitution - coding silent Skin COSM1226761 SMARCA4 c.3967C>T p.R1323C Substitution - Missense Large_intestine COSM1106571 WDR5 c.834A>G p.S278S Substitution - coding silent Endometrium COSM3919994 NIPBL c.3433C>T p.R1145C Substitution - Missense Skin COSM4125217 CLOCK c.188G>A p.G63D Substitution - Missense Stomach COSM423147 PBRM1 c.3898_3900delGAG p.E1300delE Deletion - In frame Kidney COSM423110 PBRM1 c.2864delA p.N955fs*59 Deletion - Frameshift Large_intestine COSM99740 DNMT3A c.2645G>C p.R882P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1965087 KAT6B c.1238T>C p.I413T Substitution - Missense Upper_aerodigestive_tract COSM4966861 SUV420H1 c.745G>C p.D249H Substitution - Missense Prostate COSM5731423 NSD1 c.4012A>G p.T1338A Substitution - Missense Central_nervous_system COSM1609210 SRCAP c.5894G>T p.R1965L Substitution - Missense Liver COSM5695839 TAF1L c.1531C>T p.P511S Substitution - Missense Soft_tissue COSM3381209 NSD1 c.2309G>A p.G770D Substitution - Missense Pancreas COSM1583114 DNMT3A c.2203T>A p.Y735N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4411410 EPC1 c.2204T>A p.L735Q Substitution - Missense Kidney COSM4170137 TET2 c.2254_2257delAATA p.N752fs*60 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1422292 ZCWPW2 c.471A>G p.G157G Substitution - coding silent Large_intestine COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM27399 HNF1A c.1_173del173 p.? Unknown Endometrium COSM43440 TET2 c.1061C>G p.S354* Substitution - Nonsense Skin COSM41990 ASXL1 c.4183C>G p.L1395V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51542 IDH1 c.368G>A p.G123E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85838 MEN1 c.203_203delC p.D70fs*49 Deletion - Frameshift Pancreas COSM78388 RAD54L c.155G>A p.R52Q Substitution - Missense Ovary COSM75655 NSD1 c.5027C>A p.A1676D Substitution - Missense Ovary COSM110625 EYA3 c.522G>A p.L174L Substitution - coding silent Skin COSM146701 TDRD5 c.2164G>A p.E722K Substitution - Missense Thyroid COSM186829 NIPBL c.5680C>T p.R1894C Substitution - Missense Large_intestine COSM219638 PHF19 c.779+3G>C p.? Unknown Breast COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Liver COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Central_nervous_system COSM267922 TRRAP c.5467G>T p.E1823* Substitution - Nonsense Large_intestine COSM253111 TET2 c.983delT p.F329fs*18 Deletion - Frameshift Ovary COSM283997 PHIP c.2755G>T p.E919* Substitution - Nonsense Large_intestine COSM287292 GLYR1 c.1140_1141insG p.R381fs*15 Insertion - Frameshift Stomach COSM276101 MORF4L2 c.504G>A p.S168S Substitution - coding silent Large_intestine COSM271520 SETD3 c.1493C>T p.P498L Substitution - Missense Large_intestine COSM300498 SETBP1 c.456G>T p.K152N Substitution - Missense Large_intestine COSM328308 PHC1 c.36C>A p.T12T Substitution - coding silent Pancreas COSM330199 HDAC2 c.323_324delTT p.F108fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM376876 EYA4 c.240C>T p.D80D Substitution - coding silent Lung COSM392100 ARID1A c.1338_1339delTT p.Q449fs*173 Deletion - Frameshift Lung COSM414451 ASH1L c.2994G>C p.L998F Substitution - Missense Urinary_tract COSM430522 HNF1A c.79A>C p.I27L Substitution - Missense Prostate COSM457979 ZMYM3 c.2041_2044delTACT p.Y681fs*89 Deletion - Frameshift Breast COSM456777 PHF6 c.347G>A p.R116Q Substitution - Missense Breast COSM470838 PYGO1 c.489T>C p.N163N Substitution - coding silent Kidney COSM988951 MBD2 c.1190A>G p.D397G Substitution - Missense Endometrium COSM975854 NCOR1 c.7264C>T p.R2422* Substitution - Nonsense Endometrium COSM985486 CHD3 c.3367A>G p.N1123D Substitution - Missense Endometrium COSM689614 GLYATL1 c.458C>A p.S153* Substitution - Nonsense Lung COSM1049760 TET2 c.4048G>C p.E1350Q Substitution - Missense Endometrium COSM1017589 SP110 c.692A>G p.Q231R Substitution - Missense Endometrium COSM1027538 NCOA3 c.1285A>C p.S429R Substitution - Missense Endometrium COSM937514 ATF7IP c.3662C>T p.A1221V Substitution - Missense Endometrium COSM907702 ARID1A c.2773G>T p.G925* Substitution - Nonsense Endometrium COSM908295 HDAC1 c.206G>A p.S69N Substitution - Missense Endometrium COSM908434 PHC2 c.169G>A p.V57M Substitution - Missense Endometrium COSM934207 TDG c.1098C>T p.S366S Substitution - coding silent Endometrium COSM993838 DOT1L c.3425C>A p.A1142D Substitution - Missense Endometrium COSM1000961 TFPT c.12G>A p.E4E Substitution - coding silent Endometrium COSM1041036 PHC3 c.2487G>A p.A829A Substitution - coding silent Prostate COSM3724491 SMARCA4 c.3496C>T p.Q1166* Substitution - Nonsense Ovary COSM1122935 KDM5C c.3640G>A p.V1214M Substitution - Missense Endometrium COSM1130328 ZBTB38 c.113T>C p.I38T Substitution - Missense Prostate COSM1093669 TRRAP c.7998G>A p.P2666P Substitution - coding silent Endometrium COSM1093713 TRRAP c.10254C>A p.I3418I Substitution - coding silent Endometrium COSM1101407 NCOA2 c.3782G>A p.R1261Q Substitution - Missense Endometrium COSM1252999 GABRG1 c.907A>C p.T303P Substitution - Missense Oesophagus COSM1169595 PBRM1 c.3052_3054delTTT p.F1018del Deletion - In frame Kidney COSM1220381 PHF3 c.5263C>T p.R1755* Substitution - Nonsense Large_intestine COSM1211714 KDM2B c.1666G>A p.A556T Substitution - Missense Large_intestine COSM1161163 CREBBP c.4243C>T p.Q1415* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1172443 AKAP1 c.831_832delAG p.E278fs*20 Deletion - Frameshift Oesophagus COSM1331527 KIAA2026_ENST00000399933 c.4152C>A p.H1384Q Substitution - Missense Ovary COSM42029 TET2 c.3646C>T p.R1216* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1394637 KDM4B c.1375T>G p.F459V Substitution - Missense Large_intestine COSM1406740 ATAD2B_ENST00000238789 c.1833C>T p.A611A Substitution - coding silent Large_intestine COSM1412151 NCOA5 c.719A>G p.Q240R Substitution - Missense Large_intestine COSM1437262 NIPBL c.1801delA p.K603fs*11 Deletion - Frameshift Large_intestine COSM1462650 KIAA2026_ENST00000399933 c.2187delA p.A730fs*26 Deletion - Frameshift Large_intestine COSM1462650 KIAA2026_ENST00000399933 c.2187delA p.A730fs*26 Deletion - Frameshift Stomach COSM1453185 TRRAP c.5238C>T p.F1746F Substitution - coding silent Skin COSM1341842 RBBP4 c.1108C>A p.H370N Substitution - Missense Large_intestine COSM1363350 MBD6 c.2338delG p.G782fs*13 Deletion - Frameshift Stomach COSM1344943 MTF2 c.1181delA p.G397fs*6 Deletion - Frameshift Large_intestine COSM1617434 KAT2B c.2378A>T p.Q793L Substitution - Missense Liver COSM1623357 TRRAP c.6768C>T p.I2256I Substitution - coding silent Oesophagus COSM1671891 BRD8 c.3194C>T p.P1065L Substitution - Missense Large_intestine COSM1681681 CHD6 c.4105G>T p.E1369* Substitution - Nonsense Large_intestine COSM1711241 SETBP1 c.3227C>T p.S1076L Substitution - Missense Skin COSM1665112 ZMYM4 c.2752A>T p.K918* Substitution - Nonsense Kidney COSM1736638 CLOCK c.1007C>T p.S336L Substitution - Missense Central_nervous_system COSM1736930 IDH2 c.484C>T p.P162S Substitution - Missense Central_nervous_system COSM1751422 PHF20 c.741G>C p.K247N Substitution - Missense Urinary_tract COSM1741153 ZBTB33 c.574_575insAAT p.D192>EY Complex - insertion inframe Haematopoietic_and_lymphoid_tissue COSM1750376 CBX2 c.1567A>T p.S523C Substitution - Missense Urinary_tract COSM1994677 AICDA c.264C>T p.Y88Y Substitution - coding silent Large_intestine COSM2023472 PWWP2B c.922G>A p.A308T Substitution - Missense Large_intestine COSM2152687 AIRE c.416_418delGAG p.R139_A140>P Complex - deletion inframe Central_nervous_system COSM2151157 ATRX c.3510A>G p.Q1170Q Substitution - coding silent Central_nervous_system COSM2828729 SETD5_ENST00000402198 c.219T>C p.P73P Substitution - coding silent Upper_aerodigestive_tract COSM2919930 CREBBP c.5410C>T p.H1804Y Substitution - Missense Large_intestine COSM2992795 SETD6 c.1007A>C p.E336A Substitution - Missense Large_intestine COSM3069727 DHX30 c.2107C>A p.P703T Substitution - Missense Large_intestine COSM3296312 EPC2 c.2184A>C p.T728T Substitution - coding silent Upper_aerodigestive_tract COSM3373261 PHF7 c.453A>G p.Q151Q Substitution - coding silent Thyroid COSM3379678 ZMYM3 c.1097C>T p.S366L Substitution - Missense Pancreas COSM3508165 JMJD5 c.115G>A p.E39K Substitution - Missense Skin COSM3494922 CHD8 c.5542C>T p.H1848Y Substitution - Missense Skin COSM3415167 JMJD1C c.5968G>T p.D1990Y Substitution - Missense Large_intestine COSM3443939 KMT2A c.1150C>T p.Q384* Substitution - Nonsense Skin COSM3446224 PRMT3 c.1226C>T p.P409L Substitution - Missense Skin COSM3463564 BAZ2A_ENST00000379441 c.77C>T p.S26F Substitution - Missense Skin COSM3642778 TRRAP c.4823C>T p.P1608L Substitution - Missense Skin COSM3631657 MLL5 c.3254G>A p.R1085K Substitution - Missense Skin COSM3514554 NCOR1 c.5533G>T p.E1845* Substitution - Nonsense Skin COSM3525869 SETBP1 c.2825G>A p.R942Q Substitution - Missense Skin COSM3649301 MYST3 c.2724C>T p.A908A Substitution - coding silent Skin COSM3694704 ZMYM3 c.2555C>G p.S852C Substitution - Missense Large_intestine COSM3680850 DOT1L c.4500T>G p.S1500S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3685904 PHF2 c.1239+8T>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3701236 MYST2 c.1155+8G>T p.? Unknown Liver COSM3716559 BAZ2B c.457C>T p.H153Y Substitution - Missense Prostate COSM3720588 TET2 c.3364_3365insCT p.P1123fs*15 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3817109 CHD2 c.3473G>A p.R1158H Substitution - Missense Breast COSM3811504 EP400 c.4761G>A p.E1587E Substitution - coding silent Breast COSM3862919 ASH1L c.4139C>T p.P1380L Substitution - Missense Skin COSM4018314 KMT2A c.5047C>T p.R1683C Substitution - Missense Stomach COSM4006667 KMT2C c.3340T>C p.C1114R Substitution - Missense Urinary_tract COSM4040277 EP400 c.5483G>A p.G1828D Substitution - Missense Stomach COSM3993234 PBRM1 c.1542-1G>A p.? Unknown Kidney COSM4104947 BRD1 c.350T>G p.L117R Substitution - Missense Stomach COSM4068049 AKAP1 c.1002T>C p.N334N Substitution - coding silent Stomach COSM4161994 KMT2C c.2917A>G p.R973G Substitution - Missense Large_intestine COSM4161998 KMT2C c.2726G>A p.R909K Substitution - Missense Upper_aerodigestive_tract COSM4158847 PRMT10 c.834T>C p.L278L Substitution - coding silent Thyroid COSM4169226 SUZ12 c.283C>A p.Q95K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4383774 TET2 c.974_975delAA p.K326fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4383939 TET2 c.4130T>C p.F1377S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4379280 KDM6A c.1792A>G p.I598V Substitution - Missense Soft_tissue COSM4575442 KMT2D c.13392C>T p.D4464D Substitution - coding silent Bone COSM4433393 TDG c.698-1G>T p.? Unknown Oesophagus COSM4507228 SRCAP c.7406C>G p.S2469* Substitution - Nonsense Skin COSM4433521 RNF134 c.720delG p.Q240fs*5 Deletion - Frameshift Oesophagus COSM4591270 KMT2C c.2512G>A p.G838S Substitution - Missense Upper_aerodigestive_tract COSM4675724 CXXC1 c.1651G>T p.E551* Substitution - Nonsense Large_intestine COSM4678917 DNMT3B c.995T>C p.M332T Substitution - Missense Large_intestine COSM4728357 SMARCD3 c.916C>T p.R306W Substitution - Missense Large_intestine COSM4713920 PHF12 c.1869C>T p.S623S Substitution - coding silent Large_intestine COSM4765760 KMT2D c.1941_1942insC p.E649fs*1 Insertion - Frameshift Stomach COSM4654444 GTF3C4 c.167C>T p.P56L Substitution - Missense Large_intestine COSM4771548 ATRX c.5972C>G p.S1991C Substitution - Missense Breast COSM4752834 RAG2 c.1388A>G p.E463G Substitution - Missense Stomach COSM4753391 CHD6 c.5147A>C p.E1716A Substitution - Missense Stomach COSM4789789 SP140_ENST00000392045 c.1476G>T p.L492F Substitution - Missense Liver COSM4804748 KDM3B c.13G>A p.A5T Substitution - Missense Liver COSM4878275 AKAP1 c.2310G>A p.A770A Substitution - coding silent Prostate COSM4879869 RERE c.4020C>G p.A1340A Substitution - coding silent Prostate COSM4826005 PRMT7 c.430G>C p.E144Q Substitution - Missense Cervix COSM4993090 MYST3 c.189C>T p.V63V Substitution - coding silent Skin COSM5024898 KMT2C c.12808A>T p.R4270* Substitution - Nonsense Breast COSM5019449 ERCC6 c.411G>A p.L137L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5231159 SETD1B c.1852delC p.A620fs*6 Deletion - Frameshift Breast COSM5049700 PHF17 c.2192A>G p.N731S Substitution - Missense Oesophagus COSM5418427 BRD3 c.322A>T p.M108L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5480110 ZBTB4 c.2184C>T p.C728C Substitution - coding silent Large_intestine COSM5462601 NCOR1 c.5272T>C p.S1758P Substitution - Missense Large_intestine COSM5429018 KMT2D c.671_672insATCT p.E225fs*10 Insertion - Frameshift Oesophagus COSM5442352 MLL5 c.42G>A p.T14T Substitution - coding silent Oesophagus COSM5446285 CLOCK c.2262_2264delGCA p.Q760delQ Deletion - In frame Thyroid COSM5647008 DPF2 c.103C>T p.R35C Substitution - Missense Oesophagus COSM5647360 NCOA6 c.946C>T p.P316S Substitution - Missense Oesophagus COSM5609450 MSH6 c.4003G>A p.E1335K Substitution - Missense Skin COSM5619414 JARID2 c.597C>G p.T199T Substitution - coding silent Breast COSM5593391 TCF20 c.1864G>A p.G622R Substitution - Missense Skin COSM5591869 KMT2C c.332C>T p.S111F Substitution - Missense Skin COSM5698158 EPC1 c.1759C>G p.Q587E Substitution - Missense Soft_tissue COSM5752181 NCOR1 c.1879delC p.R627fs*14 Deletion - Frameshift Breast COSM5549257 SND1 c.742G>T p.A248S Substitution - Missense Prostate COSM5560792 TDRD6 c.5345A>G p.N1782S Substitution - Missense Prostate COSM5569988 BRD7 c.1352C>T p.T451M Substitution - Missense Prostate COSM5878805 DNMT3A c.1851+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5797989 EZH1 c.1961G>T p.R654L Substitution - Missense Breast COSM5945513 KDM6A c.3832G>A p.A1278T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5914020 SETBP1 c.146C>T p.P49L Substitution - Missense Skin COSM5914261 ASXL1 c.883-8C>T p.? Unknown Skin COSM5893824 INOC1 c.1639C>T p.L547F Substitution - Missense Skin COSM5921223 RAI1 c.4742C>T p.S1581F Substitution - Missense Skin COSM5964059 ARID2 c.5062-7C>G p.? Unknown Breast COSM5988978 PHC2 c.212C>A p.A71D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5986191 SETD2 c.863C>T p.S288L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6013895 JMJD1C c.2558G>A p.R853H Substitution - Missense Skin COSM5970278 MEN1 c.162C>T p.I54I Substitution - coding silent Upper_aerodigestive_tract COSM4127678 SMARCB1 c.? p.R40* Substitution - Nonsense Bone COSM52954 DNMT3A c.? p.R882P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM166348 DNMT3A c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Central_nervous_system COSM41891 TET2 c.? p.R1261L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1742431 SMCHD1 c.109delC p.P37fs*14 Deletion - Frameshift Urinary_tract COSM1166774 EP300 c.5056_5057delTG p.C1686fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1714478 PHF21B c.812C>T p.P271L Substitution - Missense Pancreas COSM211668 TET2 c.4990C>T p.Q1664* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1611159 SMCHD1 c.1197G>T p.V399V Substitution - coding silent Liver COSM5358304 BAZ1B c.3765A>C p.E1255D Substitution - Missense Large_intestine COSM4583564 SMEK2 c.2281C>T p.R761C Substitution - Missense Bone COSM5355202 MECOM c.785C>T p.A262V Substitution - Missense Large_intestine COSM85241 ZBTB33 c.954T>C p.S318S Substitution - coding silent Breast COSM948234 TDRD3 c.1140G>A p.P380P Substitution - coding silent Large_intestine COSM371827 MBD5 c.2207A>T p.Q736L Substitution - Missense Lung COSM2067866 ARID2 c.4390C>T p.R1464C Substitution - Missense Stomach COSM1692708 SETD2 c.3178G>A p.G1060S Substitution - Missense Skin COSM95872 MECOM c.855T>C p.N285N Substitution - coding silent Lung COSM4791792 SMARCC1 c.366T>A p.L122L Substitution - coding silent Liver COSM1238435 CBX2 c.853G>A p.G285S Substitution - Missense Oesophagus COSM5623423 SUV420H1 c.860A>G p.D287G Substitution - Missense Oesophagus COSM430521 HNF1A c.51C>G p.L17L Substitution - coding silent Liver COSM5945043 TET2 c.3590A>G p.K1197R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM250086 EZH2 c.? p.L674fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM3458245 EP400 c.4872C>T p.I1624I Substitution - coding silent Skin COSM1502573 ARID1A c.5680C>T p.Q1894* Substitution - Nonsense Skin COSM1495568 SETD2 c.3112A>C p.N1038H Substitution - Missense Kidney COSM5758431 EPC2 c.1886A>C p.K629T Substitution - Missense Bone COSM5038064 CBX7 c.54G>C p.K18N Substitution - Missense Skin COSM5504835 KDM4A c.1207C>G p.L403V Substitution - Missense Biliary_tract COSM4010584 BRDT c.80G>A p.R27Q Substitution - Missense Large_intestine COSM1456900 WHSC1L1 c.115G>A p.D39N Substitution - Missense Large_intestine COSM3528102 DNMT1 c.3271G>T p.A1091S Substitution - Missense Skin COSM1093657 TRRAP c.7100A>G p.Q2367R Substitution - Missense Endometrium COSM1448993 EZH2 c.1100G>A p.S367N Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3370459 CHD9 c.2221A>G p.R741G Substitution - Missense Thyroid COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Biliary_tract COSM87153 TET2 c.4097G>A p.R1366H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM253004 HCFC2 c.919delA p.N309fs*32 Deletion - Frameshift Liver COSM5165386 PHF1 c.1404_1405insC p.D471fs*17 Insertion - Frameshift Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM1161991 SETD2 c.5923-2A>T p.? Unknown Kidney COSM4540640 BAZ1A c.2873G>A p.G958E Substitution - Missense Skin COSM4953357 TRIM28 c.610G>T p.E204* Substitution - Nonsense Liver COSM1619760 HDAC3 c.980-3A>T p.? Unknown Liver COSM3514699 SMYD4 c.2194C>T p.R732C Substitution - Missense Skin COSM1644206 KIAA2026_ENST00000399933 c.2433G>C p.L811F Substitution - Missense Urinary_tract COSM5442418 RBBP5 c.1286A>G p.D429G Substitution - Missense Oesophagus COSM3033660 MECP2 c.1135C>T p.P379S Substitution - Missense Large_intestine COSM4016855 HELLS c.682G>A p.V228I Substitution - Missense Stomach COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM4913591 PRDM15 c.504G>A p.A168A Substitution - coding silent Liver COSM3824314 PHF7 c.919+2T>G p.? Unknown Breast COSM4160094 PRDM1 c.501C>G p.D167E Substitution - Missense Soft_tissue COSM3724523 SMARCA4 c.2001_2001delG p.E668fs*106 Deletion - Frameshift Ovary COSM5141037 BAZ2A_ENST00000379441 c.1925C>T p.P642L Substitution - Missense Large_intestine COSM1738265 SETMAR c.677G>C p.C226S Substitution - Missense Ovary COSM110745 TET2 c.1799_1799delT p.M600fs*39 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4832356 PRDM4 c.2094-1G>C p.? Unknown Cervix COSM4725167 SETD4 c.685G>A p.A229T Substitution - Missense Upper_aerodigestive_tract COSM5801177 ZMYM2 c.2546_2581del36 p.V850_T861del12 Deletion - In frame Breast COSM4159839 PRDM9 c.2042C>G p.T681S Substitution - Missense Upper_aerodigestive_tract COSM4841123 TDRD5 c.550G>A p.D184N Substitution - Missense Cervix COSM979598 EZH1 c.1964G>A p.R655H Substitution - Missense Endometrium COSM1012898 ASXL1 c.2654_2655insGAAAACTT p.K888fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1121693 PHF16 c.956C>T p.T319M Substitution - Missense Cervix COSM4074986 BRD4 c.587T>C p.V196A Substitution - Missense Stomach COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3755282 NCOR1 c.6544G>A p.A2182T Substitution - Missense Large_intestine COSM5450938 PHF2 c.2723-3C>T p.? Unknown Large_intestine COSM13341 MSH6 c.3907G>A p.A1303T Substitution - Missense Central_nervous_system COSM1341386 ARID1A c.540C>T p.G180G Substitution - coding silent Large_intestine COSM1315586 SMC1A c.1463G>A p.R488H Substitution - Missense Urinary_tract COSM1318901 MSH6 c.2418C>T p.S806S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM745883 KMT2C c.9278C>T p.T3093I Substitution - Missense Lung COSM2007148 KMT2D c.4982C>A p.P1661H Substitution - Missense Large_intestine COSM4002744 PBRM1 c.4335A>G p.P1445P Substitution - coding silent Soft_tissue COSM4049833 CHD8 c.7001G>A p.R2334Q Substitution - Missense Pancreas COSM4639631 KIAA2026_ENST00000399933 c.6006A>G p.S2002S Substitution - coding silent Large_intestine COSM4788394 PHF21A c.1852C>A p.P618T Substitution - Missense Liver COSM6010697 SP110 c.327C>T p.S109S Substitution - coding silent Skin COSM4041989 ARID2 c.2649C>G p.V883V Substitution - coding silent Stomach COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Large_intestine COSM4490948 SETD1A c.3719C>T p.T1240I Substitution - Missense Skin COSM1318617 TET2 c.4060_4061delAG p.R1354fs*46 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM150428 KMT2C c.2958A>G p.P986P Substitution - coding silent Central_nervous_system COSM5517174 PRDM10 c.2430G>A p.E810E Substitution - coding silent Biliary_tract COSM4549061 TCF20 c.463G>A p.D155N Substitution - Missense Skin COSM3358110 KMT2C c.13507T>C p.C4503R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3750192 PHF2 c.2964G>T p.P988P Substitution - coding silent Lung COSM1117799 MECP2 c.427G>A p.E143K Substitution - Missense Endometrium COSM1667915 SETDB1 c.796G>A p.A266T Substitution - Missense Large_intestine COSM1623076 BAZ1B c.3193A>G p.R1065G Substitution - Missense Liver COSM4991939 PBRM1 c.1653C>T p.S551S Substitution - coding silent Skin COSM5010099 EP400 c.9233C>T p.S3078L Substitution - Missense Large_intestine COSM5353025 BRDT c.1142T>G p.V381G Substitution - Missense Large_intestine COSM3779946 TAF1L c.1320C>G p.I440M Substitution - Missense Urinary_tract COSM4970923 MGA c.3611_3614delCTGG p.T1204fs*15 Deletion - Frameshift Central_nervous_system COSM1753989 BRD8 c.671C>T p.S224F Substitution - Missense Thyroid COSM1242508 MGMT c.597G>A p.S199S Substitution - coding silent Oesophagus COSM5342432 CHD8 c.5051+8T>G p.? Unknown Large_intestine COSM3744829 PRDM9 c.1649A>T p.K550M Substitution - Missense Liver COSM312135 KAT5 c.493C>G p.Q165E Substitution - Missense Lung COSM1228745 TCF20 c.5182G>T p.D1728Y Substitution - Missense Large_intestine COSM21288 BRD3 c.71delC p.P24fs*24 Deletion - Frameshift Large_intestine COSM1453229 TRRAP c.10854G>A p.P3618P Substitution - coding silent Large_intestine COSM961524 MGA c.6177A>C p.Q2059H Substitution - Missense Endometrium COSM1168804 MGA c.597T>C p.R199R Substitution - coding silent Pancreas COSM1369031 CHD8 c.1988C>T p.T663I Substitution - Missense Large_intestine COSM4162024 KMT2C c.946A>T p.T316S Substitution - Missense Upper_aerodigestive_tract COSM5464120 AKAP1 c.2150A>G p.Q717R Substitution - Missense Large_intestine COSM4140039 SMCHD1 c.194C>T p.T65I Substitution - Missense Ovary COSM3555547 BRD1 c.756C>T p.P252P Substitution - coding silent Breast COSM1731940 KMT2D c.1306G>A p.E436K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM920202 SFMBT2 c.344G>A p.R115H Substitution - Missense Endometrium COSM1698225 ARID1B c.3481C>T p.Q1161* Substitution - Nonsense Skin COSM377524 ASXL3 c.164C>T p.P55L Substitution - Missense Lung COSM4953469 SMYD3 c.602A>T p.E201V Substitution - Missense Liver COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Bone COSM2270795 MGA c.2686C>T p.R896* Substitution - Nonsense Prostate COSM3729513 RAG2 c.67A>G p.N23D Substitution - Missense Stomach COSM1215202 KMT2D c.2953C>T p.R985W Substitution - Missense Large_intestine COSM549397 MBD6 c.842A>C p.H281P Substitution - Missense Lung COSM3412545 TRRAP c.7539C>T p.H2513H Substitution - coding silent Central_nervous_system COSM4949455 AP001011.3_ENST00000320876 c.499A>G p.I167V Substitution - Missense Liver COSM3548821 DIDO1 c.440A>G p.D147G Substitution - Missense Skin COSM3669920 EYA1 c.78T>C p.G26G Substitution - coding silent Liver COSM36166 ASXL1 c.1772_1773insA p.Y591fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1476839 CHD4 c.2574C>T p.D858D Substitution - coding silent Breast COSM288679 MSH6 c.3964G>T p.E1322* Substitution - Nonsense Endometrium COSM4984799 BAP1 c.561_562insTGAA p.V188fs*1 Insertion - Frameshift Oesophagus COSM961519 MGA c.4878C>T p.V1626V Substitution - coding silent Upper_aerodigestive_tract COSM3942416 TRRAP c.2587G>A p.D863N Substitution - Missense Oesophagus COSM5675585 KMT2D c.14844C>G p.S4948R Substitution - Missense Soft_tissue COSM277385 SMCHD1 c.2152C>T p.P718S Substitution - Missense Large_intestine COSM3397905 GLYATL1 c.762G>A p.M254I Substitution - Missense Central_nervous_system COSM3953891 TRIM66 c.2702C>G p.T901S Substitution - Missense Lung COSM972504 CTCF c.1810delT p.S604fs*27 Deletion - Frameshift Endometrium COSM3253958 MLL5 c.2713C>T p.P905S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5011629 TDRD6 c.3121C>A p.L1041I Substitution - Missense Kidney COSM5754684 MGA c.7133A>G p.E2378G Substitution - Missense Large_intestine COSM5717798 TP53BP1 c.4050C>T p.A1350A Substitution - coding silent Skin COSM307760 TET2 c.? p.Q403* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM132879 ASXL1 c.2555C>A p.S852* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1360186 EP400 c.8178A>G p.Q2726Q Substitution - coding silent Large_intestine COSM5468033 EYA2 c.748C>T p.R250* Substitution - Nonsense Large_intestine COSM3925540 NCOA2 c.1843C>T p.P615S Substitution - Missense Skin COSM3189287 EZH1 c.1572C>T p.C524C Substitution - coding silent Large_intestine COSM254667 EP300 c.4454A>T p.D1485V Substitution - Missense Urinary_tract COSM896906 ASH1L c.7744C>T p.R2582C Substitution - Missense Skin COSM3804082 LBR c.756G>C p.E252D Substitution - Missense Breast COSM4790562 JMJD1C c.5162A>G p.N1721S Substitution - Missense Liver COSM4383953 TET2 c.4662_4663delAG p.E1555fs*22 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM983279 BPTF c.1061A>T p.Y354F Substitution - Missense Endometrium COSM5563453 KMT2C c.7153C>T p.Q2385* Substitution - Nonsense Prostate COSM4823406 TDRD10 c.703G>A p.E235K Substitution - Missense Cervix COSM4006008 PRDM9 c.2188A>G p.S730G Substitution - Missense Urinary_tract COSM3796347 SMCHD1 c.1558C>G p.Q520E Substitution - Missense Urinary_tract COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM221761 KAT6B c.2315G>A p.G772E Substitution - Missense Skin COSM1689316 TDRD5 c.2254G>A p.G752R Substitution - Missense Skin COSM308681 MSH6 c.3253_3254insC p.F1088fs*5 Insertion - Frameshift Large_intestine COSM1412239 ZMYND8 c.1341G>A p.S447S Substitution - coding silent Large_intestine COSM3729658 CDYL2 c.592G>A p.A198T Substitution - Missense Stomach COSM985531 CHD3 c.5183G>T p.R1728L Substitution - Missense Endometrium COSM4980121 BAHCC1 c.3565G>A p.E1189K Substitution - Missense Oesophagus COSM5354125 SP110 c.1526G>T p.R509M Substitution - Missense Large_intestine COSM5004253 TRRAP c.4570A>C p.T1524P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4704134 MUM1 c.1353G>A p.P451P Substitution - coding silent Large_intestine COSM3865336 PRDM16 c.2398G>A p.E800K Substitution - Missense Skin COSM145232 CHD2 c.3810G>T p.L1270F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4753614 MYST3 c.1139A>C p.E380A Substitution - Missense Large_intestine COSM4982033 CREBBP c.3198C>T p.S1066S Substitution - coding silent Oesophagus COSM4166737 DNMT1 c.2520C>T p.S840S Substitution - coding silent Pituitary COSM1359417 HNF1A c.865delC p.P291fs*51 Deletion - Frameshift Large_intestine COSM5571297 TAF1L c.1048G>A p.V350M Substitution - Missense Prostate COSM4921308 SMEK1 c.1614G>T p.L538F Substitution - Missense Liver COSM1681679 CHD6 c.7381C>T p.P2461S Substitution - Missense Skin COSM3850169 PHF15 c.17G>A p.R6Q Substitution - Missense Stomach COSM1680469 MUM1 c.181G>T p.E61* Substitution - Nonsense Large_intestine COSM268762 BRD1 c.616G>A p.E206K Substitution - Missense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1614884 MSH6 c.2436A>G p.L812L Substitution - coding silent Liver COSM4593173 CBX4 c.691A>C p.N231H Substitution - Missense Upper_aerodigestive_tract COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3921594 BRPF3 c.2537C>T p.S846F Substitution - Missense Skin COSM4614865 PHF20 c.787delC p.P264fs*3 Deletion - Frameshift Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3568263 BAZ2B c.2539A>G p.R847G Substitution - Missense Skin COSM4646143 RING1 c.545A>G p.D182G Substitution - Missense Large_intestine COSM1068 SMARCB1 c.354delC p.T118fs*25 Deletion - Frameshift Soft_tissue COSM5719629 SMYD1 c.1242G>A p.G414G Substitution - coding silent Skin COSM380041 TAF1 c.4942G>T p.D1648Y Substitution - Missense Lung COSM5799162 L3MBTL3 c.556G>A p.D186N Substitution - Missense Breast COSM3767821 WHSC1 c.2029G>A p.G677S Substitution - Missense Liver COSM732254 BRPF1 c.3584A>T p.Q1195L Substitution - Missense Lung COSM5815455 NCOR1 c.2821-2A>G p.? Unknown Liver COSM4118092 SMARCC1 c.3252A>G p.P1084P Substitution - coding silent Stomach COSM379677 HDAC4 c.481G>T p.G161C Substitution - Missense Lung COSM895011 PRDM2 c.2240G>T p.S747I Substitution - Missense Endometrium COSM5992039 AP001011.3_ENST00000320876 c.4719+6delT p.? Unknown Prostate COSM1680199 L3MBTL4 c.1729C>T p.L577F Substitution - Missense Large_intestine COSM755703 MECP2 c.1309C>G p.Q437E Substitution - Missense Lung COSM1714630 MSL3 c.877C>T p.P293S Substitution - Missense Skin COSM370636 KDM5C c.3635G>T p.R1212L Substitution - Missense Lung COSM229421 ZMYM1 c.529C>T p.P177S Substitution - Missense Skin COSM3943500 LBR c.235C>T p.R79* Substitution - Nonsense Ovary COSM4548066 PHC1 c.438G>A p.Q146Q Substitution - coding silent Skin COSM703193 MYST1 c.325C>T p.L109L Substitution - coding silent Lung COSM4390868 SP100 c.225C>G p.L75L Substitution - coding silent Breast COSM758296 BRWD3 c.347T>A p.L116Q Substitution - Missense Lung COSM693653 KMT2D c.2432C>T p.P811L Substitution - Missense Lung COSM4387345 KDM4A c.503T>C p.I168T Substitution - Missense Lung COSM895831 POGZ c.1654G>A p.V552I Substitution - Missense Endometrium COSM698265 ARID4A c.2219C>G p.S740C Substitution - Missense Lung COSM3728527 ASXL1 c.4482T>C p.T1494T Substitution - coding silent Stomach COSM3764549 GTF3C1 c.3328C>A p.P1110T Substitution - Missense Central_nervous_system COSM1167553 HDAC11 c.197delC p.S67fs*45 Deletion - Frameshift Skin COSM5583137 ZMYM4 c.2994T>C p.T998T Substitution - coding silent Skin COSM5046122 SMYD4 c.2054G>A p.R685H Substitution - Missense Oesophagus COSM1361967 KMT2D c.13074_13075insC p.T4359fs*18 Insertion - Frameshift Large_intestine COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM2788381 ELP3 c.319A>C p.N107H Substitution - Missense Large_intestine COSM5687995 PRDM8 c.821G>C p.G274A Substitution - Missense Soft_tissue COSM420764 NSD1 c.6850G>C p.E2284Q Substitution - Missense Urinary_tract COSM52947 IDH2 c.? p.R172? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1506159 KAT6B c.1966G>A p.G656R Substitution - Missense Prostate COSM1180005 KMT2C c.8519A>G p.E2840G Substitution - Missense Prostate COSM3370431 CREBBP c.2018T>A p.L673* Substitution - Nonsense Thyroid COSM915018 TDRD1 c.1818G>A p.K606K Substitution - coding silent Endometrium COSM5701170 PHF2 c.2962_2963ins15 p.P988_A989insCLHHT Insertion - In frame Pancreas COSM299754 MTA2 c.1142G>A p.W381* Substitution - Nonsense Large_intestine COSM4891300 DAXX c.1927C>A p.P643T Substitution - Missense Upper_aerodigestive_tract COSM5951965 KMT2A c.4686C>T p.L1562L Substitution - coding silent Oesophagus COSM1444982 CDYL c.216_217insA p.G75fs*13 Insertion - Frameshift Large_intestine COSM476080 BAZ2B c.3190G>C p.E1064Q Substitution - Missense Kidney COSM5440266 DIDO1 c.2063A>C p.D688A Substitution - Missense Oesophagus COSM140099 CTCF c.1369C>T p.R457* Substitution - Nonsense Large_intestine COSM5986133 ASXL1 c.1564C>T p.Q522* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4070292 KDM6B c.4696C>A p.R1566S Substitution - Missense Stomach COSM5793343 KMT2A c.4366C>G p.H1456D Substitution - Missense Breast COSM5095169 ASH1L c.4280T>C p.M1427T Substitution - Missense Thymus COSM1602161 ARID1A c.6765A>C p.E2255D Substitution - Missense Liver COSM4494739 PHF3 c.4393C>T p.P1465S Substitution - Missense Skin COSM478055 NCOA6 c.2213C>A p.P738Q Substitution - Missense Kidney COSM4584570 ACTR8 c.1275G>C p.L425L Substitution - coding silent Bone COSM4719547 PWWP2B c.250_251insC p.P87fs*93 Insertion - Frameshift Large_intestine COSM5788550 BAZ1B c.2232G>C p.E744D Substitution - Missense Breast COSM3725818 EZH2 c.729-3C>T p.? Unknown Lung COSM120499 DNMT3A c.2638A>G p.M880V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4644140 MBD1 c.1106G>A p.R369H Substitution - Missense Large_intestine COSM87002 DNMT3A c.1627G>T p.G543C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1548348 SND1 c.2554G>T p.G852W Substitution - Missense Biliary_tract COSM4936562 ORC1 c.752C>A p.T251N Substitution - Missense Liver COSM5725279 MORF4L2 c.11G>A p.R4K Substitution - Missense Skin COSM4816705 NCOA6 c.2494C>T p.H832Y Substitution - Missense Cervix COSM3498275 ALKBH1 c.484C>T p.R162* Substitution - Nonsense Skin COSM3618483 BRD9 c.1077G>A p.T359T Substitution - coding silent Skin COSM4502495 ING4 c.611C>T p.S204F Substitution - Missense Skin COSM88208 IDH1 c.299G>A p.R100Q Substitution - Missense Central_nervous_system COSM1178301 DHX30 c.843C>T p.T281T Substitution - coding silent Prostate COSM5880141 UHRF2 c.2163+7G>A p.? Unknown Skin COSM3705047 ASH1L c.8120+5G>T p.? Unknown Liver COSM3053492 SMEK2 c.492C>G p.L164L Substitution - coding silent Upper_aerodigestive_tract COSM1687684 ORC1 c.58C>G p.P20A Substitution - Missense Skin COSM111693 KAT6B c.3289_3291delGAA p.E1097delE Deletion - In frame Breast COSM4040241 EP400 c.2600C>T p.A867V Substitution - Missense Stomach COSM46428 HNF1A c.695_697delTAG p.V233delV Deletion - In frame Liver COSM5457325 STK31 c.1292T>C p.V431A Substitution - Missense Large_intestine COSM3375505 JMJD1C c.1898C>T p.A633V Substitution - Missense Pancreas COSM84135 AICDA c.331G>A p.A111T Substitution - Missense Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4606069 MTA2 c.881T>C p.F294S Substitution - Missense Upper_aerodigestive_tract COSM4169557 ASXL1 c.? p.R661fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM144494 DNMT3A c.2284_2285insCCATGG p.G762>AMG Complex - insertion inframe Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM86942 IKZF1 c.1-?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4808576 CBX6 c.271C>T p.R91C Substitution - Missense Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM383345 PBRM1 c.1376C>G p.A459G Substitution - Missense Lung COSM51416 ARID1A c.5518_5518delG p.G1840fs*43 Deletion - Frameshift Ovary COSM4776587 UHRF2 c.1604+1G>A p.? Unknown Breast COSM360871 MSH6 c.697C>T p.P233S Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5725099 SIRT7 c.1117G>A p.G373S Substitution - Missense Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5899033 KDM2A c.242C>T p.S81F Substitution - Missense Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4949880 ARID1A c.5504A>G p.Q1835R Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4970175 PHF11 c.311G>A p.R104K Substitution - Missense Central_nervous_system COSM218493 CREBBP c.2950A>C p.N984H Substitution - Missense Pancreas COSM5472912 TAF1 c.3996-9T>C p.? Unknown Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1460304 SET c.518C>T p.T173M Substitution - Missense Large_intestine COSM5568383 CDYL2 c.1394G>A p.S465N Substitution - Missense Prostate COSM4837698 HDAC9 c.2358C>T p.H786H Substitution - coding silent Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2027706 MTA1 c.1907delG p.G638fs*11 Deletion - Frameshift Large_intestine COSM1460903 WDR5 c.529-2A>G p.? Unknown Large_intestine COSM4498378 PHIP c.5194C>T p.P1732S Substitution - Missense Skin COSM4018310 KMT2A c.4978T>C p.L1660L Substitution - coding silent Stomach COSM302137 EP400 c.8181A>G p.Q2727Q Substitution - coding silent Thyroid COSM1015786 TET2 c.73T>C p.C25R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1358489 PRDM4 c.224G>A p.G75D Substitution - Missense Large_intestine COSM4399468 EP400 c.2505C>T p.A835A Substitution - coding silent Skin COSM1599757 TAF1 c.1616G>A p.R539Q Substitution - Missense Endometrium COSM3508219 GTF3C1 c.3781C>T p.L1261F Substitution - Missense Skin COSM4506263 HDAC5 c.711C>T p.S237S Substitution - coding silent Skin COSM166748 PRDM9 c.2295A>T p.R765S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3763857 SMARCA2 c.3672G>A p.E1224E Substitution - coding silent Large_intestine COSM988372 SETBP1 c.642C>A p.S214R Substitution - Missense Endometrium COSM120174 TET2 c.3578G>T p.C1193F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3774903 ZCWPW2 c.793G>A p.E265K Substitution - Missense Urinary_tract COSM4475513 KAT2A c.1996C>T p.H666Y Substitution - Missense Skin COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM429982 EED c.230A>G p.K77R Substitution - Missense Breast COSM4975665 KMT2D c.10156C>T p.R3386C Substitution - Missense Oesophagus COSM5508678 MBD4 c.1141G>A p.E381K Substitution - Missense Biliary_tract COSM1701348 PHF2 c.1616C>T p.S539L Substitution - Missense Skin COSM320192 EYA3 c.1295A>T p.N432I Substitution - Missense Lung COSM4049857 CHD8 c.1885A>G p.M629V Substitution - Missense Stomach COSM4385255 EP300 c.3788A>T p.E1263V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Endometrium COSM4401003 CHD6 c.773A>T p.D258V Substitution - Missense Skin COSM2069253 RNF17 c.1399+6G>A p.? Unknown Pancreas COSM37030 EZH2 c.1936T>C p.Y646H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43445 TET2 c.5642A>G p.H1881R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM81915 WHSC1 c.4000A>C p.R1334R Substitution - coding silent Ovary COSM85823 ATRX c.4221_4224delAAAG p.K1409fs*80 Deletion - Frameshift Pancreas COSM96064 NCOA2 c.933T>C p.H311H Substitution - coding silent Lung COSM133014 ARID1A c.4972C>T p.R1658W Substitution - Missense Stomach COSM221377 DPF2 c.455G>A p.R152Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM188275 MYST3 c.3201C>T p.I1067I Substitution - coding silent Large_intestine COSM211610 TET2 c.1318C>T p.Q440* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM211666 TET2 c.1960C>T p.Q654* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM216496 DIDO1 c.2647T>C p.L883L Substitution - coding silent Pancreas COSM216271 SMARCD1 c.1241A>G p.N414S Substitution - Missense Pancreas COSM251051 NCOA5 c.610G>A p.V204M Substitution - Missense Liver COSM312833 MEN1 c.1287G>A p.T429T Substitution - coding silent Lung COSM315433 SMARCA2 c.3201C>A p.H1067Q Substitution - Missense Lung COSM304330 JMJD1C c.6784C>A p.L2262I Substitution - Missense Large_intestine COSM330655 MSH6 c.3254delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM458088 ATRX c.415delG p.D139fs*14 Deletion - Frameshift Breast COSM450797 ARID1B c.3670G>C p.D1224H Substitution - Missense Breast COSM468656 SMARCC2 c.2396A>G p.E799G Substitution - Missense Kidney COSM565877 DOT1L c.2732C>T p.S911L Substitution - Missense Thyroid COSM589516 BRD8 c.3488G>A p.R1163H Substitution - Missense Large_intestine COSM557558 SRCAP c.905C>T p.T302M Substitution - Missense Oesophagus COSM1054437 WHSC1 c.2271C>T p.F757F Substitution - coding silent Soft_tissue COSM1028117 PCNA c.54A>G p.A18A Substitution - coding silent Endometrium COSM1019241 DNMT3A c.919C>T p.P307S Substitution - Missense Endometrium COSM921440 BTAF1 c.4472C>T p.A1491V Substitution - Missense Stomach COSM734370 GABRG1 c.608C>T p.P203L Substitution - Missense Liver COSM907726 ARID1A c.4336C>T p.R1446* Substitution - Nonsense Stomach COSM934520 PRDM4 c.1932G>A p.K644K Substitution - coding silent Endometrium COSM895021 PRDM2 c.3850G>T p.D1284Y Substitution - Missense Endometrium COSM1001482 SUV420H2 c.356A>G p.N119S Substitution - Missense Endometrium COSM961972 TP53BP1 c.4788G>C p.L1596L Substitution - coding silent Endometrium COSM1108219 TAF1L c.4305C>A p.D1435E Substitution - Missense Endometrium COSM1121694 PHF16 c.1063G>A p.E355K Substitution - Missense Pancreas COSM1135040 JMJD1C c.4987+2T>G p.? Unknown Kidney COSM1081868 PHIP c.1330A>C p.N444H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1245911 BAHCC1 c.3411C>T p.T1137T Substitution - coding silent Oesophagus COSM1221896 PRDM7 c.317C>A p.S106* Substitution - Nonsense Large_intestine COSM1225369 SETD3 c.22A>C p.K8Q Substitution - Missense Large_intestine COSM1211750 KDM4D c.386G>A p.R129H Substitution - Missense Large_intestine COSM1157748 MBD5 c.923C>T p.P308L Substitution - Missense Pancreas COSM1603247 SUV39H2 c.843T>C p.N281N Substitution - coding silent Liver COSM1312863 KMT2C c.12035G>C p.G4012A Substitution - Missense Urinary_tract COSM1377484 SRCAP c.8258G>A p.R2753Q Substitution - Missense Large_intestine COSM1412229 ZMYND8 c.3420delC p.A1141fs*>48 Deletion - Frameshift Large_intestine COSM1437262 NIPBL c.1801delA p.K603fs*11 Deletion - Frameshift Large_intestine COSM1443310 BAG6 c.1243G>A p.E415K Substitution - Missense Large_intestine COSM1458104 EYA1 c.1032C>T p.Y344Y Substitution - coding silent Prostate COSM1338727 SMYD2 c.306C>A p.P102P Substitution - coding silent Large_intestine COSM1361699 ARID2 c.3319G>A p.A1107T Substitution - Missense Large_intestine COSM1478797 SRCAP c.6517G>T p.E2173* Substitution - Nonsense Breast COSM1581802 TAF1L c.5057A>G p.D1686G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1679022 SRCAP c.8306A>G p.Q2769R Substitution - Missense Large_intestine COSM1710948 L3MBTL4 c.658G>A p.D220N Substitution - Missense Skin COSM1660378 ACTB c.770G>C p.C257S Substitution - Missense Kidney COSM1741423 ACTB c.757G>A p.E253K Substitution - Missense Urinary_tract COSM1753006 MECOM c.1264G>C p.E422Q Substitution - Missense Urinary_tract COSM1755317 ACTB c.669C>A p.F223L Substitution - Missense Urinary_tract COSM1738950 PRDM5 c.895G>A p.V299M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2158413 JMJD1C c.4778A>C p.K1593T Substitution - Missense Stomach COSM2158499 JMJD1C c.2557C>T p.R853C Substitution - Missense Lung COSM2214921 RBBP5 c.1567G>T p.E523* Substitution - Nonsense Large_intestine COSM2739025 NCOR1 c.2665G>A p.V889M Substitution - Missense Large_intestine COSM2834963 CHD9 c.8588C>A p.P2863H Substitution - Missense Large_intestine COSM3206321 FXR1 c.1032T>C p.I344I Substitution - coding silent Large_intestine COSM3370952 CHD3 c.1196G>A p.R399H Substitution - Missense Thyroid COSM3368162 HELLS c.2466A>G p.I822M Substitution - Missense Thyroid COSM3505541 CHD2 c.2743T>C p.L915L Substitution - coding silent Skin COSM3451581 MEN1 c.1270G>T p.E424* Substitution - Nonsense Skin COSM3458220 EP400 c.1687C>T p.P563S Substitution - Missense Skin COSM3568272 BAZ2B c.1210C>T p.P404S Substitution - Missense Skin COSM3545796 PHF20 c.198C>T p.R66R Substitution - coding silent Skin COSM3648829 WHSC1L1 c.923A>T p.Y308F Substitution - Missense Skin COSM3778873 ATAD2 c.1186G>A p.E396K Substitution - Missense Urinary_tract COSM3782871 MGA c.5024C>T p.T1675I Substitution - Missense Prostate COSM3806098 BRDT c.633G>A p.V211V Substitution - coding silent Breast COSM3928839 TRIM24 c.2932G>A p.E978K Substitution - Missense Central_nervous_system COSM3841214 NCOA3 c.2456C>G p.S819* Substitution - Nonsense Breast COSM3822596 LMNB2 c.1122C>G p.L374L Substitution - coding silent Breast COSM3906540 SMARCA2 c.2883+2T>C p.? Unknown Stomach COSM3911290 ACTR5 c.1612C>T p.R538C Substitution - Missense Skin COSM3877188 PHF14 c.1211T>A p.V404D Substitution - Missense Stomach COSM3878707 JHDM1D c.518C>A p.P173H Substitution - Missense Stomach COSM3978332 TRDMT1 c.605A>T p.E202V Substitution - Missense Lung COSM3983366 SUZ12 c.184G>C p.A62P Substitution - Missense Ovary COSM4011356 RNF134 c.381G>C p.E127D Substitution - Missense Stomach COSM4031510 PRDM16 c.831C>T p.S277S Substitution - coding silent Large_intestine COSM4015919 KAT6B c.3511C>T p.Q1171* Substitution - Nonsense Stomach COSM4005655 TET2 c.1001C>T p.S334F Substitution - Missense Urinary_tract COSM4054500 RTF1 c.901C>G p.L301V Substitution - Missense Stomach COSM4054562 MGA c.4441G>A p.G1481S Substitution - Missense Stomach COSM4114053 ZBTB38 c.1690A>G p.K564E Substitution - Missense Stomach COSM4093213 NCOA1 c.2163G>T p.V721V Substitution - coding silent Stomach COSM4149437 TRRAP c.2485G>C p.D829H Substitution - Missense Ovary COSM4150246 SMARCC2 c.1287C>T p.Y429Y Substitution - coding silent Ovary COSM4162014 KMT2C c.2534G>A p.G845E Substitution - Missense Thyroid COSM4162020 KMT2C c.2189C>A p.S730Y Substitution - Missense Thyroid COSM4156733 HCFC1 c.1025C>T p.T342I Substitution - Missense Thyroid COSM4188098 SMARCA4 c.3580G>T p.G1194W Substitution - Missense Kidney COSM4383863 TET2 c.2646C>A p.C882* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4383912 TET2 c.3703G>A p.G1235R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4416808 PHF15 c.192G>A p.P64P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4494999 PHF20 c.443C>T p.P148L Substitution - Missense Skin COSM4497222 TRRAP c.4872C>T p.A1624A Substitution - coding silent Skin COSM4569288 MBD5 c.1647T>C p.S549S Substitution - coding silent Skin COSM4592106 PRDM16 c.3461A>C p.E1154A Substitution - Missense Upper_aerodigestive_tract COSM4467584 KMT2A c.1498C>T p.P500S Substitution - Missense Skin COSM4732889 TDRD1 c.438C>T p.V146V Substitution - coding silent Large_intestine COSM4714187 PHRF1 c.4929G>A p.T1643T Substitution - coding silent Large_intestine COSM4663220 ARID1A c.1748A>G p.Q583R Substitution - Missense Large_intestine COSM4663248 ARID1B c.3586A>G p.T1196A Substitution - Missense Large_intestine COSM4766071 DNMT3A c.1945G>T p.V649L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4763219 BAZ2B c.6433G>A p.D2145N Substitution - Missense Stomach COSM4773729 ARID1A c.2180_2189del10 p.R727fs*12 Deletion - Frameshift Stomach COSM4792357 CREBBP c.3719G>A p.C1240Y Substitution - Missense Liver COSM4788451 CREBBP c.4157C>G p.S1386C Substitution - Missense Liver COSM4901049 SMARCA1 c.3076G>A p.E1026K Substitution - Missense Skin COSM4846536 MTA2 c.1197G>C p.K399N Substitution - Missense Cervix COSM4951733 BAHCC1 c.1539C>T p.G513G Substitution - coding silent Liver COSM4945215 SMARCA5 c.1730A>G p.Y577C Substitution - Missense Testis COSM5019408 DNMT1 c.1584C>A p.I528I Substitution - coding silent Soft_tissue COSM5051889 CHD4 c.288_290delGGA p.E98delE Deletion - In frame Stomach COSM5364094 KDM6B c.3487G>A p.A1163T Substitution - Missense Large_intestine COSM5508588 BAP1 c.359delA p.K120fs*67 Deletion - Frameshift Biliary_tract COSM5432379 NSD1 c.6023A>T p.D2008V Substitution - Missense Oesophagus COSM5453929 ASH1L c.7820A>G p.D2607G Substitution - Missense Large_intestine COSM5629420 MINA c.759C>T p.H253H Substitution - coding silent Oesophagus COSM5747393 KMT2D c.11217_11218delTT p.S3740fs*1 Deletion - Frameshift Pancreas COSM5744037 NCOA6 c.830_831insGCA p.Q285_L286insQ Insertion - In frame Small_intestine COSM5615049 HDAC4 c.1721G>C p.R574P Substitution - Missense Lung COSM5615719 PHF3 c.2089A>T p.I697L Substitution - Missense Lung COSM5600202 PHF21B c.438G>A p.A146A Substitution - coding silent Skin COSM5574127 EED c.267+8_267+9insA p.? Unknown Prostate COSM5566822 HDAC9 c.230G>A p.R77Q Substitution - Missense Prostate COSM5772868 SETBP1 c.1554G>C p.L518L Substitution - coding silent Breast COSM5789075 CHD4 c.3840C>G p.F1280L Substitution - Missense Breast COSM5931748 PRDM9 c.740G>A p.R247K Substitution - Missense Skin COSM5928930 HDAC9 c.2555A>G p.N852S Substitution - Missense Skin COSM5960899 PRDM2 c.4092C>G p.Y1364* Substitution - Nonsense Breast COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM1716808 TET2 c.? p.R1261H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41708 TET2 c.4570C>T p.Q1524* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4169396 PBRM1 c.? p.P1174fs*? Unknown Skin COSM5006576 BAP1 c.?_?ins? p.?fs*? Insertion - Frameshift Kidney COSM53047 TET2 c.? p.V218fs*34 Frameshift Haematopoietic_and_lymphoid_tissue COSM3900886 CHD7 c.8559G>A p.E2853E Substitution - coding silent Stomach COSM1732172 PBRM1 c.3091delA p.I1031fs*2 Deletion - Frameshift Kidney COSM253005 HNF1A c.1131delC p.P379fs*5 Deletion - Frameshift Large_intestine COSM21481 HNF1A c.872_873insC p.G292fs*25 Insertion - Frameshift Liver COSM1315717 BRWD3 c.4514G>C p.G1505A Substitution - Missense Urinary_tract COSM122851 EP300 c.4195G>A p.D1399N Substitution - Missense Oesophagus COSM930491 KAT5 c.498G>A p.P166P Substitution - coding silent Endometrium COSM427938 KAT6B c.801C>G p.I267M Substitution - Missense Breast COSM1255503 KDM6B c.985C>T p.L329L Substitution - coding silent Oesophagus COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM4767397 ATRX c.4535G>A p.R1512H Substitution - Missense Adrenal_gland COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM5737463 CDYL c.700G>A p.E234K Substitution - Missense Small_intestine COSM3853984 NSD1 c.7180A>G p.I2394V Substitution - Missense Stomach COSM5789420 SRCAP c.614T>G p.F205C Substitution - Missense Breast COSM5451235 LBR c.24T>C p.D8D Substitution - coding silent Large_intestine COSM727028 EP300 c.4241A>G p.Y1414C Substitution - Missense Oesophagus COSM230133 KMT2C c.1173C>A p.C391* Substitution - Nonsense Soft_tissue COSM5361753 ACTR6 c.217C>T p.Q73* Substitution - Nonsense Large_intestine COSM5622779 CREBBP c.1909G>C p.E637Q Substitution - Missense Oesophagus COSM5944970 DNMT3A c.1429+2T>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4603373 EP400 c.8156_8157insGCA p.Q2748_T2749insQ Insertion - In frame Upper_aerodigestive_tract COSM4595129 C20orf20 c.72G>C p.P24P Substitution - coding silent Upper_aerodigestive_tract COSM3733522 NCOR1 c.59A>C p.Y20S Substitution - Missense Kidney COSM141377 ARID2 c.5272-1G>A p.? Unknown Upper_aerodigestive_tract COSM249136 DNMT3A c.1685G>A p.C562Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4736015 TRIM28 c.1853C>T p.P618L Substitution - Missense Large_intestine COSM5459446 KDM4C c.2260-9T>C p.? Unknown Large_intestine COSM3253647 BAG6 c.2887C>T p.R963W Substitution - Missense Large_intestine COSM738851 CHD1 c.4654C>A p.Q1552K Substitution - Missense Lung COSM4689578 HCFC1 c.4619C>T p.A1540V Substitution - Missense Large_intestine COSM3650085 CHD7 c.6786C>T p.V2262V Substitution - coding silent Skin COSM284132 POLE3 c.181C>T p.R61W Substitution - Missense Large_intestine COSM5520024 SP140_ENST00000392045 c.1947G>A p.W649* Substitution - Nonsense Biliary_tract COSM5573833 TCF20 c.2208_2209insT p.T737fs*9 Insertion - Frameshift Prostate COSM3733395 SMC1A c.2911A>G p.S971G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM5879962 SMC1A c.2420+3A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5773756 ELP3 c.1119A>C p.L373F Substitution - Missense Breast COSM1600279 BAG6 c.103G>A p.A35T Substitution - Missense Central_nervous_system COSM720751 DNMT3A c.1455G>C p.Q485H Substitution - Missense Lung COSM5555776 ASXL3 c.880G>T p.G294* Substitution - Nonsense Prostate COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Skin COSM1158181 PRDM14 c.1247A>C p.D416A Substitution - Missense Pancreas COSM87141 TET2 c.3954+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM220499 CREBBP c.4444T>A p.Y1482N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5663929 ATRX c.3145A>T p.I1049L Substitution - Missense Soft_tissue COSM4654038 L3MBTL3 c.824C>T p.P275L Substitution - Missense Large_intestine COSM4835800 ZMYM3 c.1338G>C p.L446L Substitution - coding silent Cervix COSM1757210 TRRAP c.7009A>G p.I2337V Substitution - Missense Urinary_tract COSM79348 CREBBP c.4021C>T p.R1341* Substitution - Nonsense Central_nervous_system COSM3487925 PRDM16 c.72C>T p.P24P Substitution - coding silent Skin COSM5945058 TET2 c.4247A>G p.H1416R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1184980 BRWD3 c.334T>C p.C112R Substitution - Missense Large_intestine COSM2171230 KDM4A c.2583C>T p.A861A Substitution - coding silent Large_intestine COSM4603590 KMT2C c.2448_2449insA p.I817fs*11 Insertion - Frameshift Upper_aerodigestive_tract COSM1041698 FXR1 c.1319G>T p.R440I Substitution - Missense Skin COSM1180166 GABRG1 c.32C>T p.P11L Substitution - Missense Prostate COSM5363055 MGA c.9281C>T p.T3094I Substitution - Missense Large_intestine COSM4529406 MTA2 c.1609G>A p.G537S Substitution - Missense Skin COSM3402287 SETD1A c.1931C>G p.P644R Substitution - Missense Central_nervous_system COSM3845462 BRWD3 c.5359A>G p.K1787E Substitution - Missense Breast COSM1560994 RNF134 c.83_84insGCCTCC p.P28_V29insPP Insertion - In frame Large_intestine COSM5686429 TRIM66 c.2010A>T p.V670V Substitution - coding silent Soft_tissue COSM1228049 SUV420H2 c.1192C>A p.L398M Substitution - Missense Large_intestine COSM954419 CHD8 c.6705G>A p.A2235A Substitution - coding silent Endometrium COSM1483713 NCOA3 c.3741_3749delGCAGCAGCA p.Q1274_Q1276delQQQ Deletion - In frame Stomach COSM1664283 SMNDC1 c.388A>G p.K130E Substitution - Missense Kidney COSM4384710 KMT2D c.11413C>T p.L3805F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4731988 TAF1L c.1525G>A p.A509T Substitution - Missense Large_intestine COSM3583869 SMYD1 c.926C>T p.S309F Substitution - Missense Skin COSM301383 NCOA2 c.1110A>G p.L370L Substitution - coding silent Large_intestine COSM1344641 RERE c.146delA p.N49fs*46 Deletion - Frameshift Large_intestine COSM4059659 GTF3C1 c.1213C>T p.R405* Substitution - Nonsense Stomach COSM5006541 KMT2C c.1191G>A p.S397S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM167143 RNF2 c.77G>A p.R26Q Substitution - Missense Large_intestine COSM5485919 KDM6B c.2867C>T p.A956V Substitution - Missense Large_intestine COSM3900863 CHD7 c.3627G>T p.E1209D Substitution - Missense Stomach COSM1182310 AICDA c.382C>T p.R128W Substitution - Missense Large_intestine COSM4682143 EYA4 c.1425T>C p.V475V Substitution - coding silent Large_intestine COSM3935120 JMJD1C c.4618C>T p.R1540W Substitution - Missense Oesophagus COSM3750243 TRIM33 c.1146A>G p.Q382Q Substitution - coding silent Soft_tissue COSM3555261 PHF21B c.1528G>A p.G510R Substitution - Missense Skin COSM3377112 EYA3 c.586-3C>T p.? Unknown Pancreas COSM1087546 KMT2C c.10418C>A p.P3473Q Substitution - Missense Endometrium COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4411956 SMARCA4 c.1757_1757delA p.K586fs*27 Deletion - Frameshift Ovary COSM5730048 PYGO2 c.365G>A p.G122D Substitution - Missense Skin COSM5948642 ARID1A c.1003C>T p.Q335* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM704901 NCOR1 c.530C>G p.S177* Substitution - Nonsense Lung COSM398975 CHD3 c.188G>A p.G63E Substitution - Missense Lung COSM2811999 SETBP1 c.106G>T p.E36* Substitution - Nonsense Large_intestine COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3858043 NCOA7 c.997C>T p.R333* Substitution - Nonsense Prostate COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3865451 ZMYM1 c.2006C>T p.S669L Substitution - Missense Skin COSM1348871 SFMBT2 c.2193C>T p.T731T Substitution - coding silent Stomach COSM3212692 GTF3C4 c.75delG p.G27fs*25 Deletion - Frameshift Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3362543 MBD1 c.1683A>T p.P561P Substitution - coding silent Kidney COSM4547241 KDM5C c.4187G>C p.R1396P Substitution - Missense Skin COSM1480312 INO80C c.575C>T p.P192L Substitution - Missense Breast COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5031084 KDM6A c.3338_3339ins10 p.S1114fs*40 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM299129 CHD8 c.5600-9C>A p.? Unknown Large_intestine COSM6004417 ZMYND8 c.3228C>T p.S1076S Substitution - coding silent Prostate COSM1406128 SP100 c.1246G>A p.A416T Substitution - Missense Central_nervous_system COSM2235438 ARID1A c.1921-2A>G p.? Unknown Pancreas COSM1423177 SETMAR c.344delT p.F116fs*58 Deletion - Frameshift Large_intestine COSM1602995 TDRD1 c.1469T>A p.L490* Substitution - Nonsense Liver COSM96348 ASXL1 c.2423_2424insC p.A809fs*13 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1716623 ATRX c.874C>T p.Q292* Substitution - Nonsense Central_nervous_system COSM6000398 KDM5A c.277C>G p.Q93E Substitution - Missense Prostate COSM3474773 PYGO2 c.446C>T p.P149L Substitution - Missense Skin COSM377392 TAF3 c.2640G>C p.M880I Substitution - Missense Lung COSM1716657 ATRX c.2341C>T p.R781* Substitution - Nonsense Central_nervous_system COSM4522820 SMYD4 c.1181G>A p.G394D Substitution - Missense Skin COSM289961 PHF12 c.1185A>G p.A395A Substitution - coding silent Large_intestine COSM743360 PHF3 c.2755G>T p.A919S Substitution - Missense Lung COSM2161499 SFMBT2 c.296C>T p.T99M Substitution - Missense Large_intestine COSM46461 TET2 c.2044_2045insC p.H682fs*11 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM145919 SETD1A c.1109A>G p.Y370C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2966531 SUV39H1 c.673C>T p.R225C Substitution - Missense Stomach COSM4954760 TRIM66 c.1158G>T p.W386C Substitution - Missense Liver COSM1244844 ALKBH3 c.511C>A p.H171N Substitution - Missense Stomach COSM480172 SETD2 c.2455C>T p.R819* Substitution - Nonsense Skin COSM4753615 MYST3 c.1138G>T p.E380* Substitution - Nonsense Large_intestine COSM5935743 KMT2A c.3011C>T p.S1004F Substitution - Missense Skin COSM133734 DNMT3A c.2191T>C p.F731L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1184214 ATRX c.7076A>G p.K2359R Substitution - Missense Large_intestine COSM4788228 SFMBT1 c.2306A>G p.D769G Substitution - Missense Liver COSM1478720 GTF3C1 c.4192G>T p.A1398S Substitution - Missense Breast COSM3737458 PHF15 c.1218G>A p.E406E Substitution - coding silent Soft_tissue COSM1732179 SETD2 c.2365C>T p.Q789* Substitution - Nonsense Kidney COSM5880253 KAT5 c.1615G>A p.D539N Substitution - Missense Skin COSM5607220 ZBTB33 c.1942G>A p.E648K Substitution - Missense Skin COSM3525416 ASXL3 c.478G>A p.E160K Substitution - Missense Skin COSM1360186 EP400 c.8178A>G p.Q2726Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5455921 ATRX c.2841G>A p.K947K Substitution - coding silent Large_intestine COSM5358743 PHF20L1 c.83+1G>T p.? Unknown Large_intestine COSM2952793 TET2 c.3887A>G p.N1296S Substitution - Missense Large_intestine COSM5630943 KMT2C c.10519C>T p.R3507* Substitution - Nonsense Oesophagus COSM3452408 SUV420H1 c.2439G>A p.M813I Substitution - Missense Skin COSM1742376 TDG c.859C>T p.H287Y Substitution - Missense Urinary_tract COSM3421307 NCOR1 c.2416G>T p.E806* Substitution - Nonsense Large_intestine COSM368736 CAMKMT c.763-1G>T p.? Unknown Lung COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4043688 BAZ2A c.1544C>A p.A515E Substitution - Missense Stomach COSM96419 EP300 c.4195G>T p.D1399Y Substitution - Missense Upper_aerodigestive_tract COSM1025793 DNMT3B c.895C>T p.R299* Substitution - Nonsense Endometrium COSM4883931 PHIP c.2923G>A p.V975I Substitution - Missense Upper_aerodigestive_tract COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1380022 CDYL2 c.605A>G p.E202G Substitution - Missense Large_intestine COSM473897 CXXC1 c.1962C>T p.A654A Substitution - coding silent Kidney COSM94733 MSH6 c.3146C>T p.S1049F Substitution - Missense Breast COSM3710769 KMT2D c.8112C>A p.G2704G Substitution - coding silent Upper_aerodigestive_tract COSM5722747 SETBP1 c.2717C>T p.P906L Substitution - Missense Skin COSM1087566 KMT2C c.7821C>T p.P2607P Substitution - coding silent Endometrium COSM3719083 ASXL1 c.1438G>T p.E480* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5628153 KMT2C c.1342C>T p.Q448* Substitution - Nonsense Breast COSM4396197 EP300 c.656T>C p.L219P Substitution - Missense Skin COSM1083 SMARCB1 c.?_?del? p.?del Deletion - In frame Central_nervous_system COSM446611 SETD2 c.5616C>T p.L1872L Substitution - coding silent Breast COSM5782861 BRPF3 c.56C>G p.S19C Substitution - Missense Breast COSM3555047 TCF20 c.4709C>T p.S1570F Substitution - Missense Skin COSM3959094 AP001011.3_ENST00000320876 c.2817A>C p.L939F Substitution - Missense Lung COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4725136 SETD1A c.653G>A p.R218H Substitution - Missense Large_intestine COSM4732921 TDRD7 c.2501G>A p.R834H Substitution - Missense Large_intestine COSM3843510 SMARCA1 c.2542G>C p.E848Q Substitution - Missense Breast COSM995 SMARCB1 c.138_139insTACC p.R46fs*25 Insertion - Frameshift Central_nervous_system COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5946055 ARID1A c.2989-1G>A p.? Unknown Pancreas COSM4064146 NCOR1 c.5949G>A p.A1983A Substitution - coding silent Stomach COSM4488817 KDM4D c.338C>T p.P113L Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM462206 SMC1A c.3609C>G p.V1203V Substitution - coding silent Cervix COSM4586871 PHF3 c.1332T>C p.P444P Substitution - coding silent Bone COSM4397799 NSD1 c.1191C>T p.V397V Substitution - coding silent Skin COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM234202 ARID1A c.3391C>T p.Q1131* Substitution - Nonsense Endometrium COSM969205 JMJD5 c.615C>T p.P205P Substitution - coding silent Endometrium COSM1717902 ASXL1 c.2498_2501delGTCA p.S833fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5033627 JMJD1C c.6320A>G p.N2107S Substitution - Missense Skin COSM1704238 DPF2 c.281C>T p.S94F Substitution - Missense Skin COSM41710 TET2 c.4723_4745del23 p.P1575fs*31 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4169705 EP300 c.? p.P925T Substitution - Missense Adrenal_gland COSM3492897 RERE c.4083C>T p.P1361P Substitution - coding silent Skin COSM5929716 CHD3 c.2626C>T p.R876C Substitution - Missense Skin COSM318185 TRRAP c.7938G>A p.Q2646Q Substitution - coding silent Lung COSM4702404 KMT2A c.10752A>G p.P3584P Substitution - coding silent Large_intestine COSM1184879 BRD1 c.2066C>T p.A689V Substitution - Missense Large_intestine COSM231338 CREBBP c.7088C>T p.P2363L Substitution - Missense Prostate COSM72739 SMC1A c.1535C>A p.P512H Substitution - Missense Ovary COSM4736763 TRRAP c.647C>T p.P216L Substitution - Missense Large_intestine COSM1221907 PRDM9 c.2506G>A p.E836K Substitution - Missense Skin COSM69716 ARID4A c.2605A>G p.I869V Substitution - Missense Ovary COSM3508204 GTF3C1 c.5785C>T p.Q1929* Substitution - Nonsense Skin COSM1258620 MYST3 c.2242C>T p.R748C Substitution - Missense Oesophagus COSM5717499 GTF3C4 c.477A>G p.P159P Substitution - coding silent Skin COSM3844987 KDM5C c.3883G>C p.A1295P Substitution - Missense Breast COSM5158008 CXXC1 c.640-7G>A p.? Unknown Large_intestine COSM4778906 MSH6 c.4083G>C p.*1361Y Nonstop extension Liver COSM4878427 PWWP2B c.867C>T p.D289D Substitution - coding silent Prostate COSM4403073 CCDC101 c.203C>T p.A68V Substitution - Missense Skin COSM1716586 BAP1 c.1117-?_1250+?del p.? Unknown Pleura COSM142310 ASXL1 c.1927_1928insA p.G643fs*15 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Liver COSM241864 TDRD7 c.2863C>T p.R955C Substitution - Missense Prostate COSM4431226 PRDM1 c.1246G>A p.G416S Substitution - Missense Oesophagus COSM4818531 ACTL6B c.271G>A p.E91K Substitution - Missense Cervix COSM3723034 PHF2 c.2976C>A p.T992T Substitution - coding silent Thyroid COSM4644500 ZBTB38 c.2723A>G p.D908G Substitution - Missense Large_intestine COSM87167 TET2 c.4183-1G>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1699540 EZH2 c.1040G>A p.R347Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3764719 DOT1L c.355G>T p.V119L Substitution - Missense Central_nervous_system COSM5621072 MYST3 c.2021G>T p.G674V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM4821111 KDM5A c.2344C>T p.R782* Substitution - Nonsense Cervix COSM1702078 SUV39H2 c.29G>A p.G10E Substitution - Missense Skin COSM979600 EZH1 c.1402-1G>T p.? Unknown Endometrium COSM3988428 SRCAP c.7802C>G p.S2601C Substitution - Missense Kidney COSM88760 CREBBP c.3517C>T p.R1173* Substitution - Nonsense Urinary_tract COSM5515518 EP400 c.4168G>A p.E1390K Substitution - Missense Biliary_tract COSM5463789 SMARCA2 c.2193C>T p.G731G Substitution - coding silent Large_intestine COSM487988 PHF6 c.875G>C p.C292S Substitution - Missense Kidney COSM3166328 ATAD2 c.2969G>A p.R990K Substitution - Missense Large_intestine COSM5724047 TDRD1 c.3203C>T p.S1068F Substitution - Missense Skin COSM4680496 EHMT1 c.2869G>A p.A957T Substitution - Missense Large_intestine COSM3746281 SETD8 c.713G>C p.R238P Substitution - Missense Large_intestine COSM4955686 GATAD2A c.167A>G p.N56S Substitution - Missense Liver COSM1672694 HDAC2 c.461T>C p.V154A Substitution - Missense Large_intestine COSM3444003 KMT2A c.8801T>A p.L2934* Substitution - Nonsense Skin COSM5413341 ARID1A c.4477C>A p.Q1493K Substitution - Missense Skin COSM1318632 TET2 c.822delC p.N275fs*18 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4978134 LMNB2 c.659G>A p.R220H Substitution - Missense Large_intestine COSM211603 TET2 c.3735C>G p.Y1245* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1306528 SP100 c.275C>T p.S92F Substitution - Missense Urinary_tract COSM5364517 AP001011.3_ENST00000320876 c.829delA p.N278fs*34 Deletion - Frameshift Large_intestine COSM915013 TDRD1 c.1082G>T p.R361I Substitution - Missense Endometrium COSM1746178 PRMT3 c.90G>A p.E30E Substitution - coding silent Urinary_tract COSM95816 CREBBP c.3546A>G p.A1182A Substitution - coding silent Lung COSM4960544 MPHOSPH8 c.1148C>T p.A383V Substitution - Missense Liver COSM5447266 SMCHD1 c.4087T>C p.S1363P Substitution - Missense Large_intestine COSM3492910 RERE c.1579C>T p.L527L Substitution - coding silent Skin COSM5944717 ASXL1 c.2085_2086insG p.L696fs*22 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3686130 HDAC5 c.1165-3delC p.? Unknown Large_intestine COSM1066296 NSD1 c.5982T>G p.T1994T Substitution - coding silent Endometrium COSM4620279 JMJD1C c.6879C>T p.H2293H Substitution - coding silent Large_intestine COSM88741 CREBBP c.4444T>C p.Y1482H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5547271 BAHCC1 c.1334_1335delAG p.K445fs*13 Deletion - Frameshift Prostate COSM5809938 TDRD7 c.128A>T p.Q43L Substitution - Missense Liver COSM1568547 EZH2 c.849G>A p.T283T Substitution - coding silent Large_intestine COSM1124891 TAF1 c.2548G>A p.A850T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3835431 KDM4B c.735C>T p.L245L Substitution - coding silent Breast COSM4133739 NCOA1 c.462G>C p.T154T Substitution - coding silent Thyroid COSM415946 EP400 c.2613G>T p.Q871H Substitution - Missense Urinary_tract COSM4440403 FTO c.673delA p.M226fs*3 Deletion - Frameshift Thyroid COSM3488868 ZMYM1 c.397A>C p.R133R Substitution - coding silent Skin COSM5724114 ATF7IP c.1749A>G p.V583V Substitution - coding silent Skin COSM5687122 BRWD3 c.4398-2A>T p.? Unknown Soft_tissue COSM274975 EP300 c.1739G>A p.R580Q Substitution - Missense Stomach COSM4745792 HDAC9 c.1987C>T p.R663* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4767367 KMT2D c.7930_7930delC p.H2644fs*29 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM682380 PHF13 c.629G>T p.R210L Substitution - Missense Lung COSM1244701 AICDA c.545C>G p.P182R Substitution - Missense Oesophagus COSM1458084 NCOA2 c.37A>T p.R13W Substitution - Missense Large_intestine COSM13446 SMARCB1 c.363_628del266 p.? Deletion - Frameshift Soft_tissue COSM3108905 GTF3C1 c.2739C>T p.P913P Substitution - coding silent Large_intestine COSM5990112 TET2 c.5454delA p.K1818fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4474213 RSF1 c.1902C>T p.I634I Substitution - coding silent Skin COSM3596198 PBRM1 c.1082T>A p.L361* Substitution - Nonsense Skin COSM5878801 DNMT3A c.1888_1889ins13 p.K630fs*4 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3619207 PRDM1 c.2066G>A p.R689Q Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3716229 PRDM12 c.840C>T p.F280F Substitution - coding silent Upper_aerodigestive_tract COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3548771 DIDO1 c.5996C>T p.S1999F Substitution - Missense Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5602271 SETD5_ENST00000402198 c.3098T>C p.L1033S Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM983874 PHF23 c.682C>T p.R228W Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5572781 SMARCA4 c.192C>G p.Y64* Substitution - Nonsense Prostate COSM5751611 SUZ12 c.1582_1583delAT p.I528fs*14 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM87007 DNMT3A c.2711C>T p.P904L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5620485 CHD7 c.8297C>T p.S2766L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1034198 CBX6 c.1085T>A p.M362K Substitution - Missense Endometrium COSM41741 TET2 c.5618T>C p.I1873T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4601556 DOT1L c.1513C>A p.P505T Substitution - Missense Upper_aerodigestive_tract COSM5758229 CHD2 c.2189+1G>A p.? Unknown Bone COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM5031077 KDM6A c.3336_3342CGTATCA>GGCTAATAG p.V1113fs*8 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM1716415 CTCF c.610delA p.T204fs*18 Deletion - Frameshift Endometrium COSM4656465 POLE3 c.45C>T p.I15I Substitution - coding silent Large_intestine COSM5776178 ATAD2B_ENST00000238789 c.593A>T p.Q198L Substitution - Missense Breast COSM4428229 ZMYND8 c.375C>G p.L125L Substitution - coding silent Oesophagus COSM4599986 PRDM9 c.1213C>A p.Q405K Substitution - Missense Upper_aerodigestive_tract COSM5990196 HNF1A c.68_69insCTGATCCA p.K23fs*2 Insertion - Frameshift Liver COSM3640354 BAZ1B c.239T>G p.F80C Substitution - Missense Skin COSM1355930 DPF2 c.930C>T p.T310T Substitution - coding silent Large_intestine COSM3925543 EYA1 c.1199+2T>A p.? Unknown Skin COSM5047036 BAP1 c.304A>G p.N102D Substitution - Missense Oesophagus COSM5942084 TDRD6 c.5158C>T p.L1720F Substitution - Missense Skin COSM4705975 NCOA6 c.1895A>G p.Q632R Substitution - Missense Large_intestine COSM1364810 PHC1 c.2518delA p.M842fs*1 Deletion - Frameshift Large_intestine COSM5787481 SMARCD1 c.248+8G>A p.? Unknown Breast COSM1051624 SMARCA5 c.2572G>A p.E858K Substitution - Missense Endometrium COSM132968 ASXL1 c.? p.E635fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM4031000 ARID1A c.526C>T p.Q176* Substitution - Nonsense Liver COSM78096 MLL5 c.4411T>A p.S1471T Substitution - Missense Ovary COSM5031076 KDM6A c.3337_3338insGGTGTCG p.V1113fs*40 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM190065 MSH6 c.3284G>A p.R1095H Substitution - Missense Large_intestine COSM2952950 INTS12 c.41delT p.L14fs*1 Deletion - Frameshift Large_intestine COSM3772717 YEATS4 c.300C>G p.I100M Substitution - Missense Pancreas COSM3703902 HNF1A c.1781G>T p.S594I Substitution - Missense Liver COSM1002 SMARCB1 c.118C>T p.R40* Substitution - Nonsense Central_nervous_system COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM83884 ARID1A c.3826C>T p.R1276* Substitution - Nonsense Endometrium COSM80174 MGMT c.228C>T p.I76I Substitution - coding silent Skin COSM98867 BRDT c.2705C>T p.S902F Substitution - Missense Stomach COSM87113 TET2 c.2918_2919insG p.C973fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM87130 TET2 c.3781C>T p.R1261C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96376 BAP1 c.966_978del13 p.P324fs*7 Deletion - Frameshift Pleura COSM112087 TDG c.286_287insA p.I98fs*6 Insertion - Frameshift Upper_aerodigestive_tract COSM112087 TDG c.286_287insA p.I98fs*6 Insertion - Frameshift Upper_aerodigestive_tract COSM144215 ATRX c.5215C>T p.R1739* Substitution - Nonsense Central_nervous_system COSM221112 KMT2D c.7556+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM147408 APOBEC1 c.534C>T p.Y178Y Substitution - coding silent Large_intestine COSM177325 PRDM10 c.3448G>A p.E1150K Substitution - Missense Skin COSM187721 EP300 c.4886C>T p.A1629V Substitution - Missense Large_intestine COSM196570 RSF1 c.3805C>T p.R1269W Substitution - Missense Large_intestine COSM201010 ING1 c.586C>T p.R196* Substitution - Nonsense Large_intestine COSM249590 SETD1B c.119_120insT p.S41fs*5 Insertion - Frameshift Kidney COSM243238 BRPF3 c.569G>A p.R190Q Substitution - Missense Prostate COSM41850 TET2 c.1630C>T p.R544* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM262333 NCOA6 c.5126C>A p.S1709Y Substitution - Missense Large_intestine COSM279019 ATAD2B_ENST00000238789 c.670G>T p.E224* Substitution - Nonsense Large_intestine COSM323725 TAF1L c.5314G>A p.D1772N Substitution - Missense Lung COSM340121 DPF1 c.545G>A p.R182H Substitution - Missense Large_intestine COSM347432 TFPT c.341A>G p.Q114R Substitution - Missense Lung COSM356742 EP400 c.5248C>T p.R1750C Substitution - Missense Large_intestine COSM383937 SMARCA4 c.4936G>A p.E1646K Substitution - Missense Skin COSM379581 KDM5A c.1864G>T p.A622S Substitution - Missense Lung COSM392601 NCOA6 c.5636delC p.P1879fs*9 Deletion - Frameshift Lung COSM984760 JMJD6 c.386C>T p.P129L Substitution - Missense Skin COSM483609 ARID1B c.3708G>A p.M1236I Substitution - Missense Kidney COSM1691148 MBD5 c.3652C>T p.H1218Y Substitution - Missense Skin COSM564791 CARM1 c.605C>T p.A202V Substitution - Missense Skin COSM1017642 SP100 c.539C>A p.S180Y Substitution - Missense Endometrium COSM937191 EP400 c.8925C>T p.Y2975Y Substitution - coding silent Oesophagus COSM937491 ATF7IP c.43C>T p.R15* Substitution - Nonsense Endometrium COSM935974 HNF1A c.862delG p.P291fs*51 Deletion - Frameshift Large_intestine COSM1008158 BAZ2B c.3145C>T p.R1049* Substitution - Nonsense Endometrium COSM1045697 DHX30 c.3039G>T p.E1013D Substitution - Missense Endometrium COSM1077620 BAG6 c.3242G>A p.R1081Q Substitution - Missense Endometrium COSM971263 BRD7 c.892G>C p.D298H Substitution - Missense Endometrium COSM4032942 PHF21A c.1279C>T p.R427W Substitution - Missense Stomach COSM1125513 ATRX c.1032C>T p.S344S Substitution - coding silent Lung COSM1112288 MORF4L2 c.509G>A p.G170E Substitution - Missense Endometrium COSM1123035 SMC1A c.1756C>T p.R586W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1116477 FMR1 c.1731C>T p.S577S Substitution - coding silent Endometrium COSM1249688 DAXX c.208-4C>T p.? Unknown Oesophagus COSM1168007 MGA c.2282C>T p.P761L Substitution - Missense Skin COSM1181743 ACTR5 c.1349G>A p.R450Q Substitution - Missense Large_intestine COSM1182082 ADNP c.1585G>A p.A529T Substitution - Missense Large_intestine COSM1313691 ATAD2 c.1318G>C p.E440Q Substitution - Missense Urinary_tract COSM42029 TET2 c.3646C>T p.R1216* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1385412 BPTF c.1376A>G p.E459G Substitution - Missense Large_intestine COSM1412222 EYA2 c.358G>T p.G120C Substitution - Missense Large_intestine COSM1446053 PHIP c.3148G>A p.D1050N Substitution - Missense Large_intestine COSM1363776 CHD4 c.417G>T p.E139D Substitution - Missense Soft_tissue COSM1613552 BAZ2B c.3330T>C p.D1110D Substitution - coding silent Liver COSM1684490 NCOR1 c.2463_2464delTG p.V822fs*3 Deletion - Frameshift Large_intestine COSM1679093 FTO c.148A>T p.I50F Substitution - Missense Large_intestine COSM1726436 METTL21D c.568G>T p.E190* Substitution - Nonsense Liver COSM1748820 BAZ1A c.1467A>G p.E489E Substitution - coding silent Urinary_tract COSM1756380 SMARCA1 c.92C>G p.P31R Substitution - Missense Urinary_tract COSM2080391 ZMYM4 c.4609G>T p.A1537S Substitution - Missense Large_intestine COSM2078744 PHC2 c.1765C>T p.R589C Substitution - Missense Large_intestine COSM2759313 PHF20 c.76A>C p.K26Q Substitution - Missense Large_intestine COSM2773720 KIAA1045 c.1174G>A p.A392T Substitution - Missense Large_intestine COSM2889600 DNMT3B c.1803C>T p.Y601Y Substitution - coding silent Stomach COSM3296137 MBD5 c.1536C>T p.S512S Substitution - coding silent Upper_aerodigestive_tract COSM3296279 EPC2 c.1234C>T p.R412C Substitution - Missense Skin COSM3381198 DUSP1 c.157C>G p.R53G Substitution - Missense Pancreas COSM3377121 HDAC1 c.449T>G p.F150C Substitution - Missense Pancreas COSM3457032 SIRT4 c.389C>T p.T130I Substitution - Missense Skin COSM3551000 PRDM15 c.383C>T p.P128L Substitution - Missense Skin COSM3528403 SMARCA4 c.66T>A p.P22P Substitution - coding silent Skin COSM3514551 NCOR1 c.6640C>T p.R2214C Substitution - Missense Skin COSM3523297 CHD3 c.4073-1G>A p.? Unknown Skin COSM3657698 KIAA2026_ENST00000399933 c.2728A>G p.S910G Substitution - Missense Skin COSM3730910 INTS12 c.409G>C p.D137H Substitution - Missense Stomach COSM3736831 GABRG1 c.121G>A p.D41N Substitution - Missense Skin COSM3749047 ARID1A c.4160A>G p.E1387G Substitution - Missense Large_intestine COSM3792374 EP400 c.6120G>A p.P2040P Substitution - coding silent Urinary_tract COSM3843402 ZBTB33 c.1009G>A p.D337N Substitution - Missense Breast COSM3825896 GABRG1 c.1318G>A p.D440N Substitution - Missense Breast COSM3947390 PRDM9 c.831G>T p.E277D Substitution - Missense Lung COSM3944536 KDM5D c.899T>C p.M300T Substitution - Missense Lung COSM3951829 PRDM14 c.147C>A p.D49E Substitution - Missense Lung COSM3965482 ZMYM3 c.3312C>T p.L1104L Substitution - coding silent Lung COSM4041999 ARID2 c.5272-1G>T p.? Unknown Stomach COSM3988553 SETD6 c.86G>T p.C29F Substitution - Missense Oesophagus COSM3985631 ERCC6 c.2744G>A p.R915Q Substitution - Missense Kidney COSM4097814 NCOA6 c.828G>A p.Q276Q Substitution - coding silent Biliary_tract COSM4121135 TET2 c.2094G>T p.V698V Substitution - coding silent Stomach COSM4130749 KDM6B c.807T>C p.A269A Substitution - coding silent Thyroid COSM4152486 PBRM1 c.4120A>T p.K1374* Substitution - Nonsense Kidney COSM4170634 ARID1A c.646T>C p.Y216H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384961 PHF12 c.2360T>G p.V787G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4387838 SND1 c.39A>G p.G13G Substitution - coding silent Pancreas COSM4382884 MBD1 c.1481C>G p.A494G Substitution - Missense Large_intestine COSM4366919 ELP3 c.641A>C p.K214T Substitution - Missense Large_intestine COSM4442342 SUV420H1 c.658C>T p.R220* Substitution - Nonsense Large_intestine COSM4438782 HDAC4 c.2490C>T p.S830S Substitution - coding silent Oesophagus COSM4541313 TDRD5 c.2819G>A p.C940Y Substitution - Missense Skin COSM4495381 SETBP1 c.4527C>T p.I1509I Substitution - coding silent Skin COSM4511038 MGA c.8712C>T p.F2904F Substitution - coding silent Skin COSM4479899 ZMYM1 c.236C>T p.S79L Substitution - Missense Skin COSM4678887 DNMT1 c.1480G>C p.E494Q Substitution - Missense Large_intestine COSM4770177 PBRM1 c.4576+5_4576+6insGAG p.? Unknown Bone COSM4774845 SMARCB1 c.528_528delC p.H177fs*32 Deletion - Frameshift Soft_tissue COSM4663981 ATF7IP c.608A>G p.D203G Substitution - Missense Large_intestine COSM4728441 SMCHD1 c.2860C>T p.R954C Substitution - Missense Large_intestine COSM4765107 ARID1A c.5542_5543insG p.D1850fs*4 Insertion - Frameshift Stomach COSM4767954 SETD1A c.1519G>A p.A507T Substitution - Missense Biliary_tract COSM4617457 PHC2 c.325G>A p.V109I Substitution - Missense Large_intestine COSM4617827 CHD3 c.5494C>T p.R1832C Substitution - Missense Large_intestine COSM4791582 ATXN7 c.2549G>A p.S850N Substitution - Missense Liver COSM4789700 JMJD1C c.3212A>T p.H1071L Substitution - Missense Liver COSM4792357 CREBBP c.3719G>A p.C1240Y Substitution - Missense Liver COSM4904940 ATRX c.3124G>A p.G1042R Substitution - Missense Skin COSM4838686 GTF3C1 c.1202G>C p.R401T Substitution - Missense Cervix COSM4830570 TDRD1 c.2137G>A p.D713N Substitution - Missense Cervix COSM5018604 SMARCA4 c.2563G>A p.V855I Substitution - Missense Soft_tissue COSM5017567 SMARCA4 c.2969delA p.K991fs*28 Deletion - Frameshift Soft_tissue COSM5015992 SETD2 c.4979_4980delCC p.P1660fs*20 Deletion - Frameshift Kidney COSM5052436 TTF2 c.925C>T p.P309S Substitution - Missense Stomach COSM5415001 RAI1 c.4129G>A p.G1377R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5521449 TRIM28 c.2193+3G>T p.? Unknown Prostate COSM5474327 PRDM15 c.3448G>A p.A1150T Substitution - Missense Large_intestine COSM5485073 EHMT1 c.888+10G>A p.? Unknown Large_intestine COSM5632680 SUV420H1 c.2151A>G p.K717K Substitution - coding silent Oesophagus COSM5631941 PBRM1 c.4289-1G>A p.? Unknown Oesophagus COSM5752102 PHF6 c.729+1_729+2insACCCATG p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5719265 KDM4A c.683C>T p.P228L Substitution - Missense Skin COSM5721606 PWWP2B c.1096C>T p.P366S Substitution - Missense Skin COSM5594751 KDM4A c.2512A>G p.K838E Substitution - Missense Skin COSM5591231 HCFC1 c.2853C>T p.F951F Substitution - coding silent Skin COSM5597711 TDRD5 c.141C>T p.I47I Substitution - coding silent Skin COSM5673765 EYA4 c.1902G>T p.L634L Substitution - coding silent Soft_tissue COSM5688893 PRDM9 c.1481T>C p.M494T Substitution - Missense Soft_tissue COSM5749361 CLOCK c.1868T>C p.I623T Substitution - Missense Genital_tract COSM5772290 BAHD1 c.291C>A p.P97P Substitution - coding silent Breast COSM5787483 HCFC1 c.1475C>T p.A492V Substitution - Missense Breast COSM5880072 PHF6 c.711_712insTC p.A238fs*42 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5820232 CHD6 c.17A>C p.Q6P Substitution - Missense Liver COSM5935593 HELLS c.889-3C>T p.? Unknown Skin COSM5893638 CHD4 c.4150C>T p.P1384S Substitution - Missense Skin COSM5896166 HCFC2 c.474-5C>T p.? Unknown Skin COSM5903797 PHRF1 c.2552C>T p.P851L Substitution - Missense Skin COSM5960244 KDM1B c.1191delG p.A398fs*19 Deletion - Frameshift Thyroid COSM5962009 MINA c.134T>C p.L45S Substitution - Missense Breast COSM5988563 KDM5A c.868T>C p.F290L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5981417 KDM4B c.3134C>T p.P1045L Substitution - Missense Upper_aerodigestive_tract COSM5985551 KMT2C c.177delG p.T61fs*44 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM42010 TET2 c.2053C>T p.Q685* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM255124 MEN1 c.? p.V161F Substitution - Missense Parathyroid COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716177 EZH2 c.? p.Y646H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4767346 IDH1 c.? p.G105G Substitution - coding silent Central_nervous_system COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM480854 PHF17 c.1558T>A p.C520S Substitution - Missense Kidney COSM3471573 TRIM33 c.3084C>T p.V1028V Substitution - coding silent Skin COSM914355 ASXL1 c.? p.Q748* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5509685 ZMYM4 c.4060+10delT p.? Unknown Biliary_tract COSM3727849 TRIM66 c.1888C>G p.L630V Substitution - Missense Upper_aerodigestive_tract COSM934521 PRDM4 c.1776C>A p.C592* Substitution - Nonsense Endometrium COSM3936999 GTF3C1 c.6052G>A p.E2018K Substitution - Missense Oesophagus COSM3358570 PBRM1 c.324delT p.D108fs*5 Deletion - Frameshift Kidney COSM1118757 SCML2 c.1736G>A p.G579D Substitution - Missense Endometrium COSM4464072 CHD7 c.1317C>T p.P439P Substitution - coding silent Skin COSM3685189 ACTB c.124-1G>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM6006145 SETD1A c.1918G>C p.G640R Substitution - Missense Small_intestine COSM5585477 ING3 c.385C>T p.P129S Substitution - Missense Skin COSM1079902 TDRD6 c.3631G>A p.E1211K Substitution - Missense Endometrium COSM6007794 KMT2A c.3008C>A p.T1003N Substitution - Missense Prostate COSM4573326 PCGF6 c.379G>A p.E127K Substitution - Missense Bone COSM5614076 MTF2 c.1487T>C p.L496S Substitution - Missense Lung COSM4492871 TP53BP1 c.4037C>T p.P1346L Substitution - Missense Skin COSM2154642 EYA4 c.867G>A p.T289T Substitution - coding silent Central_nervous_system COSM4702531 MLL5 c.3445C>G p.Q1149E Substitution - Missense Large_intestine COSM5367565 ARID1A c.3030_3031insT p.L1011fs*3 Insertion - Frameshift Large_intestine COSM4991220 SMARCA4 c.809C>T p.P270L Substitution - Missense Skin COSM4171641 JHDM1D c.1625G>A p.C542Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4755389 KDM5C c.1646T>G p.M549R Substitution - Missense Stomach COSM1178926 ZMYM3 c.143_144insC p.G49fs*13 Insertion - Frameshift Breast COSM3918636 PHF15 c.2146G>T p.V716L Substitution - Missense Skin COSM1226781 SMARCC1 c.1954C>T p.R652C Substitution - Missense Large_intestine COSM4168263 PHF6 c.407delA p.H136fs*7 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1088652 STK31 c.2182C>T p.R728* Substitution - Nonsense Stomach COSM5445872 ARID1B c.897_898insGGC p.G299_Y300insG Insertion - In frame Thyroid COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5438232 KDM4D c.1223G>A p.R408Q Substitution - Missense Oesophagus COSM1179107 KMT2C c.851G>A p.R284Q Substitution - Missense Central_nervous_system COSM4838115 ZBTB33 c.1398G>T p.T466T Substitution - coding silent Cervix COSM4554287 MPHOSPH8 c.616G>C p.A206P Substitution - Missense Skin COSM251383 ARID2 c.3987_3988ins16 p.L1330fs*3 Insertion - Frameshift Liver COSM5727601 NCOA7 c.1377G>A p.V459V Substitution - coding silent Skin COSM5569480 CHD8 c.666A>G p.T222T Substitution - coding silent Prostate COSM5067886 CHD7 c.8955_8956insG p.D2988fs*2 Insertion - Frameshift Large_intestine COSM5951321 ARID2 c.284+4_284+5insT p.? Unknown Oesophagus COSM5501513 KDM3B c.715A>G p.I239V Substitution - Missense Biliary_tract COSM4408938 SMARCA4 c.2738C>T p.P913L Substitution - Missense Oesophagus COSM221796 TDG c.602A>C p.K201T Substitution - Missense Prostate COSM5038731 SMEK1 c.1497delA p.L500fs*4 Deletion - Frameshift Liver COSM4717505 PRDM2 c.4891_4893delAAG p.K1632delK Deletion - In frame Large_intestine COSM3733350 KMT2D c.8887delC p.L2963fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM41294 IDH1 c.? p.R132C Substitution - Missense Bone COSM211540 TET2 c.? p.T1078P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3403703 DNMT1 c.447T>C p.P149P Substitution - coding silent Central_nervous_system COSM2153691 KMT2C c.12897T>G p.A4299A Substitution - coding silent Central_nervous_system COSM5921950 SCML2 c.764C>A p.S255Y Substitution - Missense Skin COSM3294866 ZMYND8 c.2418C>T p.T806T Substitution - coding silent Skin COSM4414581 MBD1 c.758G>A p.R253H Substitution - Missense Kidney COSM3875677 PHIP c.1406T>C p.V469A Substitution - Missense Stomach COSM257720 PHF21A c.1536C>T p.Y512Y Substitution - coding silent Large_intestine COSM4797226 TAF1L c.3447G>A p.R1149R Substitution - coding silent Liver COSM1117743 HCFC1 c.2827C>T p.H943Y Substitution - Missense Endometrium COSM4794523 TAF1 c.1032G>A p.G344G Substitution - coding silent Liver COSM250040 ATRX c.2656_2659delGAGA p.E886fs*18 Deletion - Frameshift Central_nervous_system COSM4170464 KMT2D c.687T>A p.C229* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3726492 PRDM1 c.131A>T p.E44V Substitution - Missense Lung COSM1563143 SRCAP c.3615_3624del10 p.K1205fs*9 Deletion - Frameshift Large_intestine COSM908294 HDAC1 c.101G>A p.R34Q Substitution - Missense Large_intestine COSM4664728 ATXN7 c.2333_2334insC p.T781fs*6 Insertion - Frameshift Large_intestine COSM4666123 BRD8 c.3597A>T p.E1199D Substitution - Missense Large_intestine COSM4381519 PBRM1 c.3838T>C p.S1280P Substitution - Missense Large_intestine COSM3589866 MECOM c.1643G>A p.G548D Substitution - Missense Skin COSM2183882 TDRKH c.433G>A p.E145K Substitution - Missense Skin COSM5623388 SHPRH c.873C>T p.I291I Substitution - coding silent Oesophagus COSM4767396 ATRX c.915_918delTAAT p.S305fs*26 Deletion - Frameshift Autonomic_ganglia COSM5882251 ARID2 c.3048A>T p.Q1016H Substitution - Missense Skin COSM4060702 CREBBP c.4948G>A p.V1650I Substitution - Missense Stomach COSM3718881 PCNA c.291delT p.D97fs*5 Deletion - Frameshift Upper_aerodigestive_tract COSM4500563 SMARCB1 c.568C>T p.R190W Substitution - Missense Skin COSM5514012 ARID1A c.5827delA p.I1943fs*13 Deletion - Frameshift Biliary_tract COSM1561936 TRIM66 c.971A>G p.H324R Substitution - Missense Large_intestine COSM5417285 CHD2 c.1880C>T p.S627F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1441792 JARID2 c.1497G>A p.P499P Substitution - coding silent Large_intestine COSM1177044 PHC3 c.599G>A p.R200H Substitution - Missense Endometrium COSM159339 BAZ2B c.3255C>T p.L1085L Substitution - coding silent Breast COSM1184376 KMT2C c.11728C>T p.P3910S Substitution - Missense Large_intestine COSM5812577 EP400 c.5873A>T p.D1958V Substitution - Missense Liver COSM5014181 SMYD2 c.1297C>G p.H433D Substitution - Missense Kidney COSM921428 BTAF1 c.2286A>G p.L762L Substitution - coding silent Endometrium COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4672105 CHD9 c.690A>G p.Q230Q Substitution - coding silent Large_intestine COSM1083693 MLL5 c.4932G>A p.P1644P Substitution - coding silent Endometrium COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4584412 DHX30 c.1287G>A p.Q429Q Substitution - coding silent Bone COSM5784956 ZMYND8 c.1108G>A p.V370M Substitution - Missense Breast COSM302527 L3MBTL4 c.1101G>A p.T367T Substitution - coding silent Large_intestine COSM3429421 NIPBL c.6480T>G p.D2160E Substitution - Missense Large_intestine COSM4645107 SETD1B c.853G>A p.V285I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5569839 KMT2C c.10927A>G p.T3643A Substitution - Missense Prostate COSM354889 ACTL6B c.859C>T p.P287S Substitution - Missense Lung COSM4847594 FXR1 c.411G>C p.L137F Substitution - Missense Cervix COSM3789927 ZMYM1 c.2199C>G p.F733L Substitution - Missense Urinary_tract COSM5504101 MGA c.5879G>A p.S1960N Substitution - Missense Biliary_tract COSM1476340 EP400 c.9363G>A p.P3121P Substitution - coding silent Breast COSM3365422 TET2 c.582C>A p.D194E Substitution - Missense Kidney COSM4766070 DNMT3A c.2206C>G p.R736G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4169569 MSH6 c.? p.A555V Substitution - Missense Central_nervous_system COSM1341874 PRDM16 c.1384C>T p.P462S Substitution - Missense Large_intestine COSM4748045 ARID1B c.3527delC p.Q1178fs*15 Deletion - Frameshift Stomach COSM3399697 TDRKH c.1207A>G p.R403G Substitution - Missense Central_nervous_system COSM280912 EZH1 c.1909G>A p.E637K Substitution - Missense Large_intestine COSM386878 ASXL3 c.1334C>A p.S445Y Substitution - Missense Lung COSM367730 BRPF3 c.1096C>T p.R366C Substitution - Missense Lung COSM5020351 KAT6B c.3717C>T p.P1239P Substitution - coding silent Soft_tissue COSM3670094 SETD2 c.1244_1245delCA p.S415fs*1 Deletion - Frameshift Central_nervous_system COSM1266218 SMARCA2 c.669G>A p.Q223Q Substitution - coding silent Oesophagus COSM4717484 PRDM15 c.746C>T p.T249M Substitution - Missense Large_intestine COSM176178 MTF2 c.59G>A p.R20Q Substitution - Missense Large_intestine COSM961519 MGA c.4878C>T p.V1626V Substitution - coding silent Endometrium COSM3479303 TDRD5 c.1876G>A p.E626K Substitution - Missense Skin COSM5655288 KAT6B c.4812C>A p.H1604Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM255284 CHD7 c.2368G>T p.E790* Substitution - Nonsense Central_nervous_system COSM4189111 PBRM1 c.377_384+1delATTATAAGG p.? Unknown Kidney COSM5433330 CHD2 c.1769A>G p.N590S Substitution - Missense Oesophagus COSM1681379 SUV420H2 c.56C>A p.T19N Substitution - Missense Large_intestine COSM3755973 CBX4 c.480C>T p.H160H Substitution - coding silent Large_intestine COSM1325748 ATF2 c.248G>A p.G83D Substitution - Missense Ovary COSM1666931 TET2 c.? p.M1293I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5445554 PRDM15 c.4147A>C p.T1383P Substitution - Missense Oesophagus COSM2780436 SFMBT1 c.2408G>A p.R803Q Substitution - Missense Large_intestine COSM459202 CHD8 c.4030G>A p.E1344K Substitution - Missense Cervix COSM5600200 PHF17 c.984C>T p.C328C Substitution - coding silent Skin COSM3952587 PSIP1 c.595A>G p.M199V Substitution - Missense Lung COSM5926580 ACTB c.133G>A p.V45M Substitution - Missense Skin COSM5409826 NCOA2 c.2208C>T p.S736S Substitution - coding silent Skin COSM4949663 SETD2 c.6049_6050insAGGA p.L2018fs*6 Insertion - Frameshift Liver COSM4607492 BTAF1 c.3259C>A p.Q1087K Substitution - Missense Adrenal_gland COSM96933 ATRX c.6457C>T p.R2153C Substitution - Missense Skin COSM4584404 SETD2 c.1470T>G p.S490S Substitution - coding silent Bone COSM5824840 SETBP1 c.2246C>A p.P749H Substitution - Missense Pancreas COSM5807969 DIDO1 c.334G>T p.E112* Substitution - Nonsense Liver COSM716467 MBD5 c.4099C>G p.P1367A Substitution - Missense Lung COSM4044269 CHD4 c.5671A>G p.N1891D Substitution - Missense Stomach COSM459874 KDM4B c.2240C>G p.S747C Substitution - Missense Cervix COSM259658 BPTF c.2455G>T p.E819* Substitution - Nonsense Large_intestine COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM100082 KMT2C c.8390_8390delA p.K2797fs*26 Deletion - Frameshift Large_intestine COSM308046 HDAC4 c.1633C>T p.P545S Substitution - Missense Biliary_tract COSM240690 KMT2D c.4285C>T p.R1429* Substitution - Nonsense Central_nervous_system COSM221012 KMT2D c.15401C>T p.S5134F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3947396 PRDM9 c.1338C>A p.S446R Substitution - Missense Lung COSM2153202 AKAP1 c.2068T>A p.S690T Substitution - Missense Central_nervous_system COSM53296 SMARCB1 c.774_775ins13 p.D259fs*26 Insertion - Frameshift Soft_tissue COSM4910423 KMT2D c.13848A>G p.P4616P Substitution - coding silent Liver COSM111747 KAT2A c.2236-24_2236-2del23 p.? Unknown Ovary COSM1681682 CHD6 c.2709G>T p.K903N Substitution - Missense Large_intestine COSM52905 PBRM1 c.3199delA p.T1067fs*92 Deletion - Frameshift Kidney COSM4622205 PHRF1 c.4442C>A p.P1481Q Substitution - Missense Large_intestine COSM1027546 NCOA3 c.3786G>A p.Q1262Q Substitution - coding silent Urinary_tract COSM21739 SIRT6 c.23G>A p.G8E Substitution - Missense Skin COSM1433180 PHF15 c.1549C>T p.R517* Substitution - Nonsense Large_intestine COSM4072232 SETBP1 c.1170C>T p.A390A Substitution - coding silent Stomach COSM198796 PHF2 c.1468delA p.K492fs*6 Deletion - Frameshift Large_intestine COSM323611 SRCAP c.6625C>G p.L2209V Substitution - Missense Lung COSM95403 TRIM33 c.1812G>T p.R604S Substitution - Missense Lung COSM255568 KDM4C c.845A>T p.N282I Substitution - Missense Central_nervous_system COSM1034589 L3MBTL2 c.1255C>T p.R419* Substitution - Nonsense Endometrium COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3547325 EYA2 c.126C>T p.A42A Substitution - coding silent Skin COSM30426 KMT2D c.4368G>A p.E1456E Substitution - coding silent Skin COSM4659175 ACTR5 c.1521G>T p.M507I Substitution - Missense Large_intestine COSM3798727 SP110 c.2028+1G>A p.? Unknown Urinary_tract COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1107411 PSIP1 c.940C>T p.R314* Substitution - Nonsense Endometrium COSM4877169 PHF15 c.592G>A p.E198K Substitution - Missense Prostate COSM4433182 CREBBP c.5278C>T p.Q1760* Substitution - Nonsense Oesophagus COSM5484128 AKAP1 c.1165T>G p.C389G Substitution - Missense Large_intestine COSM3829520 ARID1B c.3409A>T p.K1137* Substitution - Nonsense Breast COSM5878780 DNMT3A c.2107C>G p.L703V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4803088 PHRF1 c.3650C>G p.T1217S Substitution - Missense Liver COSM4817411 ARID4A c.126G>C p.L42L Substitution - coding silent Cervix COSM53006 EZH2 c.1200_1203delAGAA p.E401fs*22 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM158743 PHF6 c.860G>T p.G287V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1936564 BAZ2A_ENST00000379441 c.2601G>A p.V867V Substitution - coding silent Large_intestine COSM2007418 KMT2D c.1350C>T p.S450S Substitution - coding silent Large_intestine COSM5676643 TAF1L c.3445C>T p.R1149W Substitution - Missense Soft_tissue COSM4982254 SP140 c.154G>C p.E52Q Substitution - Missense Oesophagus COSM3712160 SETD6 c.1309C>T p.Q437* Substitution - Nonsense Upper_aerodigestive_tract COSM255240 GABRG1 c.143C>T p.T48M Substitution - Missense Central_nervous_system COSM4622411 HCFC2 c.5C>G p.A2G Substitution - Missense Large_intestine COSM5777338 PCNA c.375A>C p.Q125H Substitution - Missense Breast COSM1165381 PRDM14 c.1315C>T p.R439* Substitution - Nonsense Large_intestine COSM4713904 PHC2 c.237C>T p.Y79Y Substitution - coding silent Large_intestine COSM1342908 KDM4A c.2778C>A p.T926T Substitution - coding silent Large_intestine COSM5820700 ATXN7 c.613C>T p.R205C Substitution - Missense Liver COSM1030934 PRDM15 c.3713C>T p.A1238V Substitution - Missense Endometrium COSM4663897 ASXL1 c.3941delT p.Q1315fs*135 Deletion - Frameshift Large_intestine COSM1716180 EZH2 c.? p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1027975 ADNP c.916C>T p.R306* Substitution - Nonsense Endometrium COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM1196473 ZMYND8 c.2423C>T p.T808M Substitution - Missense Lung COSM4129113 CHD9 c.7594C>A p.Q2532K Substitution - Missense Thyroid COSM4420258 ACTL6B c.609C>A p.C203* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM1100870 CHD7 c.7145C>T p.T2382M Substitution - Missense Endometrium COSM365942 PRDM16 c.360G>A p.A120A Substitution - coding silent Liver COSM4014442 ERCC6 c.3157C>T p.R1053C Substitution - Missense Stomach COSM482773 NIPBL c.5011-1G>T p.? Unknown Kidney COSM5948523 TDRD6 c.1855_1856insT p.K621fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM231560 DNMT3A c.2206C>T p.R736C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4486813 TDRD1 c.3101C>T p.P1034L Substitution - Missense Skin COSM1195376 PRDM15 c.1901G>A p.R634K Substitution - Missense Lung COSM1682943 FMR1 c.590C>A p.S197Y Substitution - Missense Large_intestine COSM5979590 ATAD2 c.584G>A p.R195H Substitution - Missense Upper_aerodigestive_tract COSM2965387 KDM6A c.2364C>T p.A788A Substitution - coding silent Lung COSM3626159 BRPF3 c.888C>T p.I296I Substitution - coding silent Skin COSM5997325 KMT2C c.6868G>T p.V2290F Substitution - Missense Prostate COSM3934775 ORC1 c.216C>T p.F72F Substitution - coding silent Skin COSM3620800 EYA4 c.872G>A p.G291E Substitution - Missense Skin COSM4592311 JARID2 c.2084C>G p.A695G Substitution - Missense Upper_aerodigestive_tract COSM1049128 BRPF1 c.1239C>T p.C413C Substitution - coding silent Endometrium COSM110747 TET2 c.3762_3763insA p.Y1255fs*13 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4592007 RAI1 c.841_843delCAG p.Q291delQ Deletion - In frame Upper_aerodigestive_tract COSM1668063 HDGF c.198C>A p.Y66* Substitution - Nonsense Lung COSM4059649 GTF3C1 c.3656G>A p.R1219Q Substitution - Missense Stomach COSM5796890 BRWD1 c.23G>A p.R8Q Substitution - Missense Breast COSM37029 EZH2 c.1937A>C p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM464493 ZMYM4 c.46C>T p.Q16* Substitution - Nonsense Kidney COSM4920715 INOC1 c.2813A>T p.E938V Substitution - Missense Liver COSM4558519 BPTF c.7704G>A p.M2568I Substitution - Missense Skin COSM5487399 CREBBP c.5436C>T p.T1812T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1209177 GTF3C4 c.1832C>T p.S611L Substitution - Missense Large_intestine COSM4721046 RERE c.3685C>T p.R1229W Substitution - Missense Large_intestine COSM213599 KDM1B c.466G>A p.E156K Substitution - Missense Breast COSM5645296 HCFC1 c.5500A>G p.S1834G Substitution - Missense Oesophagus COSM4703003 MPHOSPH8 c.1351T>C p.F451L Substitution - Missense Large_intestine COSM4842090 KAT6B c.4462G>C p.E1488Q Substitution - Missense Cervix COSM1100828 CHD7 c.4974G>A p.E1658E Substitution - coding silent Endometrium COSM4576211 PRDM2 c.1801C>T p.L601L Substitution - coding silent Bone COSM1055 SMARCB1 c.793A>T p.K265* Substitution - Nonsense Central_nervous_system COSM5944986 DNMT3A c.802G>C p.D268H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1124913 TAF1 c.3940G>T p.E1314* Substitution - Nonsense Endometrium COSM3936404 YY1 c.498G>T p.S166S Substitution - coding silent Oesophagus COSM52891 PBRM1 c.2662_2663insA p.S888fs*13 Insertion - Frameshift Kidney COSM1717550 SIRT4 c.914G>A p.G305E Substitution - Missense Ovary COSM2961755 MYST3 c.575C>T p.S192F Substitution - Missense Large_intestine COSM4728291 SMARCA4 c.2372C>T p.A791V Substitution - Missense Large_intestine COSM3811506 EP400 c.5445A>C p.P1815P Substitution - coding silent Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM30358 KMT2D c.7495G>A p.D2499N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4713944 PHF15 c.1944A>G p.P648P Substitution - coding silent Large_intestine COSM3634196 JHDM1D c.1639-1G>A p.? Unknown Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3659715 PHF2 c.1718G>A p.S573N Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3727315 DNMT3B c.2339C>T p.S780L Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1607480 CHD8 c.6906A>T p.E2302D Substitution - Missense Liver COSM3749492 DOT1L c.4156G>A p.G1386S Substitution - Missense Large_intestine COSM5970600 EP400 c.5529C>A p.T1843T Substitution - coding silent Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3948418 GTF3C1 c.1618G>T p.E540* Substitution - Nonsense Ovary COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4400068 ORC1 c.184A>C p.N62H Substitution - Missense Skin COSM1054432 WHSC1 c.1577G>T p.R526I Substitution - Missense Endometrium COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM99740 DNMT3A c.2645G>C p.R882P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1172714 NCOA6 c.3194C>T p.S1065F Substitution - Missense Skin COSM1625983 KDM5C c.1861G>T p.D621Y Substitution - Missense Liver COSM4146787 SETD8 c.995T>C p.L332P Substitution - Missense Bone COSM124346 MBD3 c.372G>C p.K124N Substitution - Missense Upper_aerodigestive_tract COSM33732 IDH2 c.515G>T p.R172M Substitution - Missense Biliary_tract COSM1173588 HDAC6 c.1924C>T p.R642W Substitution - Missense Oesophagus COSM5599298 CHD6 c.7853C>T p.S2618F Substitution - Missense Skin COSM3525851 SETBP1 c.1471C>T p.P491S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5796076 TET2 c.3750G>C p.E1250D Substitution - Missense Breast COSM3622183 JARID2 c.2881G>A p.E961K Substitution - Missense Skin COSM53157 TET2 c.? p.A1876G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4844452 ZCWPW1 c.1231G>A p.A411T Substitution - Missense Cervix COSM4605514 KMT2C c.5028G>A p.K1676K Substitution - coding silent Upper_aerodigestive_tract COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Endometrium COSM381614 TRRAP c.9558G>A p.L3186L Substitution - coding silent Lung COSM5019110 MECOM c.2472G>A p.S824S Substitution - coding silent Soft_tissue COSM5445130 KMT2C c.2306C>A p.S769* Substitution - Nonsense Oesophagus COSM3492896 RERE c.4119C>T p.P1373P Substitution - coding silent Skin COSM242083 TRRAP c.2213A>C p.K738T Substitution - Missense Prostate COSM5901700 ALKBH3 c.769-8C>T p.? Unknown Skin COSM3381209 NSD1 c.2309G>A p.G770D Substitution - Missense Pancreas COSM5762115 HDAC5 c.3208C>T p.R1070W Substitution - Missense Pancreas COSM1305743 BAZ2B c.6107G>T p.R2036I Substitution - Missense Urinary_tract COSM2810356 ASXL3 c.1739delA p.V583fs*59 Deletion - Frameshift Large_intestine COSM4920173 PHF10 c.1078A>G p.M360V Substitution - Missense Liver COSM22620 MEN1 c.989G>C p.R330P Substitution - Missense Pancreas COSM22600 MEN1 c.1606C>T p.Q536* Substitution - Nonsense Parathyroid COSM22608 MEN1 c.292C>T p.R98* Substitution - Nonsense Parathyroid COSM991 SMARCB1 c.141C>A p.Y47* Substitution - Nonsense Soft_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM27612 KDM5C c.3664T>C p.S1222P Substitution - Missense Kidney COSM35821 TRIM24 c.1172G>A p.R391H Substitution - Missense Central_nervous_system COSM40504 ZMYND8 c.2176G>A p.D726N Substitution - Missense Central_nervous_system COSM42902 CLOCK c.716G>A p.R239H Substitution - Missense Large_intestine COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53267 TET2 c.2149_2150insA p.H717fs*6 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Pancreas COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Central_nervous_system COSM48559 MEN1 c.884G>T p.R295L Substitution - Missense Lung COSM94799 KAT6B c.1981G>T p.D661Y Substitution - Missense Breast COSM110726 BAP1 c.58G>T p.E20* Substitution - Nonsense Kidney COSM110790 TET2 c.1602_1605delAAAC p.N535fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM145776 PHF1 c.330T>A p.C110* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM189021 ARID2 c.853C>T p.R285W Substitution - Missense Large_intestine COSM218775 SFMBT1 c.1235C>A p.S412Y Substitution - Missense Pancreas COSM211619 TET2 c.3619G>T p.E1207* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM217157 SMARCA4 c.3531C>A p.D1177E Substitution - Missense Liver COSM240809 KAT6B c.4501G>T p.E1501* Substitution - Nonsense Prostate COSM295638 ASH1L c.7833G>T p.V2611V Substitution - coding silent Large_intestine COSM298273 ASXL1 c.3933_3934insG p.A1312fs*17 Insertion - Frameshift Large_intestine COSM287889 FMR1 c.1452C>T p.R484R Substitution - coding silent Large_intestine COSM288694 SETD2 c.1768A>C p.S590R Substitution - Missense Large_intestine COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Upper_aerodigestive_tract COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Large_intestine COSM346896 STK31 c.536T>G p.I179S Substitution - Missense Endometrium COSM369111 ORC1 c.400C>T p.R134W Substitution - Missense Large_intestine COSM422781 PBRM1 c.1962C>G p.Y654* Substitution - Nonsense Kidney COSM438522 SMARCA4 c.4735G>T p.E1579* Substitution - Nonsense Breast COSM430522 HNF1A c.79A>C p.I27L Substitution - Missense Prostate COSM478588 BRWD1 c.6300A>G p.R2100R Substitution - coding silent Kidney COSM985468 CHD3 c.2582C>T p.S861L Substitution - Missense Oesophagus COSM976125 RAI1 c.3513C>T p.C1171C Substitution - coding silent Endometrium COSM973979 CDYL2 c.1212C>T p.V404V Substitution - coding silent Endometrium COSM988826 MBD1 c.1758T>C p.D586D Substitution - coding silent Endometrium COSM942088 MBD6 c.1565G>A p.S522N Substitution - Missense Endometrium COSM942092 MBD6 c.2697C>A p.F899L Substitution - Missense Endometrium COSM1051612 SMARCA5 c.2022C>T p.I674I Substitution - coding silent Endometrium COSM1049135 BRPF1 c.2219G>A p.R740H Substitution - Missense Endometrium COSM745835 KMT2C c.1103G>T p.G368V Substitution - Missense Lung COSM707756 KDM6B c.1196G>C p.S399T Substitution - Missense Lung COSM1040963 MECOM c.2249G>A p.R750Q Substitution - Missense Endometrium COSM1038804 HDAC11 c.781G>A p.D261N Substitution - Missense Endometrium COSM1087535 KMT2C c.11761G>A p.A3921T Substitution - Missense Endometrium COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1196468 TAF3 c.221G>T p.G74V Substitution - Missense Lung COSM1200966 CHD3 c.5701C>T p.R1901C Substitution - Missense Stomach COSM1184386 KMT2C c.14074G>A p.G4692S Substitution - Missense Large_intestine COSM1225434 SFMBT1 c.841T>G p.L281V Substitution - Missense Large_intestine COSM1161253 SMARCA4 c.2918G>A p.R973Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1292358 PHF3 c.3349_3355delAACTGCA p.N1117fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1319701 CHD7 c.7199_7201delGGA p.R2405delR Deletion - In frame Upper_aerodigestive_tract COSM1268524 TRIM28 c.2196C>A p.D732E Substitution - Missense Oesophagus COSM1457740 CHD7 c.6773A>G p.E2258G Substitution - Missense Large_intestine COSM1366030 RNF17 c.1012G>A p.D338N Substitution - Missense Skin COSM1511174 EP400 c.8260C>T p.Q2754* Substitution - Nonsense Breast COSM1482942 HDAC4 c.2238C>A p.F746L Substitution - Missense Cervix COSM1622716 STK31 c.977C>T p.A326V Substitution - Missense Liver COSM1623077 BAZ1B c.2727_2728insT p.N910fs*1 Insertion - Frameshift Liver COSM1634390 CHD1 c.4358A>T p.K1453I Substitution - Missense Liver COSM1674463 KIAA1045 c.256C>T p.R86C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1641464 PRDM15 c.1783G>T p.G595C Substitution - Missense Stomach COSM1719609 KAT6B c.4957C>T p.P1653S Substitution - Missense Skin COSM1729964 ING5 c.301G>A p.D101N Substitution - Missense Liver COSM1756033 BRD3 c.1186G>A p.E396K Substitution - Missense Urinary_tract COSM2006647 KMT2D c.14480G>A p.R4827Q Substitution - Missense Breast COSM2145451 ERCC6 c.2538T>C p.S846S Substitution - coding silent Central_nervous_system COSM2859781 TIF1 c.150C>G p.L50L Substitution - coding silent Bone COSM2853451 BAP1 c.1939G>T p.E647* Substitution - Nonsense Pleura COSM2879280 MBD1 c.151C>T p.R51* Substitution - Nonsense Central_nervous_system COSM2960114 ASH2L c.1841T>C p.V614A Substitution - Missense Large_intestine COSM3237296 KDM3B c.1475C>G p.S492C Substitution - Missense Liver COSM3363712 EP300 c.1836T>C p.A612A Substitution - coding silent Kidney COSM3364329 BAZ2B c.1437C>T p.H479H Substitution - coding silent Kidney COSM3378480 ASXL3 c.1593G>A p.P531P Substitution - coding silent Stomach COSM3381445 SHPRH c.1101T>C p.L367L Substitution - coding silent Pancreas COSM3382951 JMJD1C c.617A>G p.E206G Substitution - Missense Pancreas COSM3413406 GTF3C4 c.160C>T p.R54W Substitution - Missense Central_nervous_system COSM3401223 CHD8 c.3565C>T p.Q1189* Substitution - Nonsense Central_nervous_system COSM3508978 SETD1A c.1951C>T p.P651S Substitution - Missense Skin COSM3443945 KMT2A c.2046C>T p.L682L Substitution - coding silent Skin COSM3473718 TDRKH c.907C>T p.H303Y Substitution - Missense Skin COSM3640341 BAZ1B c.4138A>G p.I1380V Substitution - Missense Skin COSM3634204 JHDM1D c.366C>T p.F122F Substitution - coding silent Skin COSM3578884 SP140_ENST00000392045 c.351G>A p.R117R Substitution - coding silent Skin COSM3600575 SMARCA5 c.2393A>C p.Y798S Substitution - Missense Skin COSM3525466 ASXL3 c.2774C>T p.S925L Substitution - Missense Skin COSM3716950 CHD9 c.8294A>G p.N2765S Substitution - Missense Liver COSM3719516 TET2 c.3730_3731delCT p.Y1245fs*22 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3737955 UHRF2 c.2315G>A p.R772Q Substitution - Missense Soft_tissue COSM3752792 TRIM66 c.1397A>G p.H466R Substitution - Missense Thyroid COSM3819903 MYST2 c.1632C>G p.I544M Substitution - Missense Breast COSM3848239 SMARCA2 c.705G>A p.Q235Q Substitution - coding silent Large_intestine COSM3879517 KMT2C c.11790C>T p.A3930A Substitution - coding silent Stomach COSM3875675 PHIP c.1910A>C p.N637T Substitution - Missense Stomach COSM3872285 CHD4 c.4890T>C p.P1630P Substitution - coding silent Skin COSM3872288 CHD4 c.4109C>T p.S1370L Substitution - Missense Skin COSM4049851 CHD8 c.3535A>G p.I1179V Substitution - Missense Stomach COSM3996422 BRD3 c.511G>C p.V171L Substitution - Missense Kidney COSM4111268 BRWD3 c.2351G>A p.R784H Substitution - Missense Stomach COSM4060190 SRCAP c.2688G>A p.Q896Q Substitution - coding silent Stomach COSM4129608 NCOR1 c.571G>A p.E191K Substitution - Missense Upper_aerodigestive_tract COSM4171525 ARID1B c.5758C>T p.Q1920* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4605243 NCOA3 c.3823C>T p.Q1275* Substitution - Nonsense Upper_aerodigestive_tract COSM4414821 MGA c.3254G>C p.R1085T Substitution - Missense Kidney COSM4593164 EP400 c.6637A>C p.T2213P Substitution - Missense Upper_aerodigestive_tract COSM4495380 SETD1B c.1168C>T p.L390L Substitution - coding silent Skin COSM4497627 TCF20 c.5014C>T p.P1672S Substitution - Missense Skin COSM4585818 PRDM9 c.2071delC p.Y692fs*>203 Deletion - Frameshift Bone COSM4591270 KMT2C c.2512G>A p.G838S Substitution - Missense Upper_aerodigestive_tract COSM4717529 PRDM9 c.2557_2558delAC p.T855fs*15 Deletion - Frameshift Large_intestine COSM4722040 RNF17 c.448G>T p.E150* Substitution - Nonsense Large_intestine COSM4725143 SETD1A c.3143C>T p.S1048L Substitution - Missense Large_intestine COSM4766127 TET2 c.4133G>T p.C1378F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4777238 MBD3 c.414C>G p.F138L Substitution - Missense Breast COSM4611655 HDAC2 c.33delA p.V12fs*20 Deletion - Frameshift Large_intestine COSM4630185 JMJD5 c.810C>T p.V270V Substitution - coding silent Large_intestine COSM4772077 HDAC6 c.1402G>C p.V468L Substitution - Missense Stomach COSM4802025 TDRD1 c.1603C>A p.P535T Substitution - Missense Liver COSM4919125 SMYD2 c.663G>T p.L221L Substitution - coding silent Liver COSM4838602 DHX30 c.849C>G p.L283L Substitution - coding silent Cervix COSM4828188 ALKBH1 c.643G>A p.E215K Substitution - Missense Cervix COSM4991287 DOT1L c.2709C>T p.P903P Substitution - coding silent Skin COSM5005736 ARID1B c.6073A>C p.S2025R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5094936 MSH6 c.685G>C p.E229Q Substitution - Missense Thymus COSM5217545 SMYD5 c.220_221delTT p.S75fs*4 Deletion - Frameshift Breast COSM5347065 ARID1A c.359C>G p.P120R Substitution - Missense Endometrium COSM5350808 SP140_ENST00000392045 c.2370G>C p.E790D Substitution - Missense Lung COSM5407049 KMT2C c.4897C>T p.Q1633* Substitution - Nonsense Skin COSM5371765 KMT2A c.1187G>A p.G396E Substitution - Missense Skin COSM5353431 PRDM16 c.639C>T p.G213G Substitution - coding silent Large_intestine COSM5507046 GTF3C1 c.3767A>T p.Q1256L Substitution - Missense Biliary_tract COSM5479106 MYST1 c.836A>G p.D279G Substitution - Missense Large_intestine COSM5438347 ATF7IP c.1043A>T p.N348I Substitution - Missense Oesophagus COSM5456652 CBX4 c.585C>T p.P195P Substitution - coding silent Large_intestine COSM5724742 INTS12 c.1310C>T p.S437L Substitution - Missense Skin COSM5590196 CHD9 c.1217C>T p.P406L Substitution - Missense Skin COSM5598489 MECOM c.2306C>T p.S769L Substitution - Missense Skin COSM5662699 KMT2D c.12327C>T p.P4109P Substitution - coding silent Soft_tissue COSM5681638 UBR7 c.1199A>G p.E400G Substitution - Missense Soft_tissue COSM5878504 ARID2 c.1084_1110del27 p.C362_L370delCLMSRDRFL Deletion - In frame Liver COSM5878739 DNMT3A c.2720A>T p.E907V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5950525 PRDM5 c.744-8T>G p.? Unknown Prostate COSM5893601 PHRF1 c.621-7C>T p.? Unknown Skin COSM5986697 TBL1XR1 c.980_994del15 p.T327_H332>N Complex - deletion inframe Haematopoietic_and_lymphoid_tissue COSM5982661 TAF3 c.111G>C p.V37V Substitution - coding silent Upper_aerodigestive_tract COSM5991666 ASH1L c.869delA p.K290fs*8 Deletion - Frameshift Prostate COSM5994494 BRPF1 c.2984G>A p.R995H Substitution - Missense Prostate COSM5972362 BPTF c.5368A>T p.S1790C Substitution - Missense Upper_aerodigestive_tract COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM1666932 TET2 c.? p.P174H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716178 EZH2 c.? p.K634E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM166348 DNMT3A c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4972326 ASXL1 c.? p.L764fs*5 Frameshift Haematopoietic_and_lymphoid_tissue COSM4167240 TET2 c.? p.A295fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM1716584 BAP1 c.660-?_783+?del p.? Unknown Pleura COSM3738479 TET2 c.? p.C1221fs*5 Frameshift Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5003014 TRIM33 c.2714G>T p.C905F Substitution - Missense Pancreas COSM1001480 SUV420H2 c.9C>T p.P3P Substitution - coding silent Large_intestine COSM4383975 TET2 c.5824C>T p.Q1942* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5019040 ERCC6 c.1196G>A p.G399D Substitution - Missense Soft_tissue COSM3738744 TAF3 c.1251A>G p.G417G Substitution - coding silent Liver COSM714032 TRIM28 c.2181C>T p.S727S Substitution - coding silent Lung COSM4955813 PRDM15 c.1398C>T p.D466D Substitution - coding silent Liver COSM5819450 CHD6 c.8084A>T p.E2695V Substitution - Missense Liver COSM961984 TP53BP1 c.751G>T p.E251* Substitution - Nonsense Endometrium COSM200503 TET2 c.2391C>T p.F797F Substitution - coding silent Large_intestine COSM1121686 PHF16 c.43G>A p.E15K Substitution - Missense Thyroid COSM421346 BRPF3 c.559C>T p.L187L Substitution - coding silent Urinary_tract COSM1622164 MLL5 c.2775T>C p.N925N Substitution - coding silent Liver COSM23017 MEN1 c.398_430del33 p.Y133_L143del Deletion - In frame Parathyroid COSM1543420 PRDM9 c.129G>T p.M43I Substitution - Missense Central_nervous_system COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Central_nervous_system COSM5944150 DAXX c.603G>C p.E201D Substitution - Missense Bone COSM110703 ASXL1 c.2026G>T p.E676* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM53295 SMARCB1 c.1_628del628 p.? Unknown Soft_tissue COSM3417077 CHD4 c.1621C>T p.R541W Substitution - Missense Large_intestine COSM132897 TET2 c.2982_2982delC p.H994fs*13 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3816386 PYGO1 c.368C>T p.S123L Substitution - Missense Breast COSM295405 PRMT8 c.385G>A p.A129T Substitution - Missense Large_intestine COSM4385419 ATRX c.4775T>A p.L1592H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4603154 KMT2C c.3610_3611insA p.L1204fs*10 Insertion - Frameshift Upper_aerodigestive_tract COSM4831595 EP300 c.3849G>T p.R1283S Substitution - Missense Cervix COSM41644 TET2 c.1648C>T p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1626136 ATRX c.4721G>A p.C1574Y Substitution - Missense Liver COSM4791497 SFMBT2 c.1324C>G p.L442V Substitution - Missense Liver COSM3433842 PCGF6 c.736C>T p.R246C Substitution - Missense Skin COSM254546 ARID1A c.3743C>A p.S1248* Substitution - Nonsense Urinary_tract COSM4910156 SMYD1 c.814T>A p.F272I Substitution - Missense Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Biliary_tract COSM1697312 TDRD6 c.4633C>T p.Q1545* Substitution - Nonsense Skin COSM1184889 BRD1 c.776G>A p.R259H Substitution - Missense Large_intestine COSM916615 SUV39H2 c.931G>T p.D311Y Substitution - Missense Endometrium COSM4877446 CREBBP c.5147C>T p.T1716M Substitution - Missense Prostate COSM1424540 PBRM1 c.2973delA p.K991fs*23 Deletion - Frameshift Kidney COSM4611727 ARID4A c.2329_2330insA p.T779fs*5 Insertion - Frameshift Upper_aerodigestive_tract COSM1722309 MYST3 c.5079A>C p.P1693P Substitution - coding silent Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4951262 ARID2 c.4169_4170insT p.S1391fs*20 Insertion - Frameshift Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM46424 HNF1A c.788G>T p.R263L Substitution - Missense Liver COSM914368 ASXL1 c.? p.R1415* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5880187 KMT2C c.8453T>C p.V2818A Substitution - Missense Skin COSM739795 PRDM1 c.1051G>T p.G351C Substitution - Missense Lung COSM908335 PRDM16 c.709G>A p.E237K Substitution - Missense Endometrium COSM41292 IDH1 c.? p.R132G Substitution - Missense Bone COSM2820661 AIRE c.1579G>A p.G527S Substitution - Missense Lung COSM5040587 TAF1L c.4238A>T p.N1413I Substitution - Missense Liver COSM2965438 KDM6A c.3304G>A p.E1102K Substitution - Missense Stomach COSM5904121 RAD54L c.418C>T p.P140S Substitution - Missense Skin COSM1296226 ARID1A c.4087C>T p.Q1363* Substitution - Nonsense Cervix COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM911676 PHF13 c.571G>T p.E191* Substitution - Nonsense Endometrium COSM3860528 PHF10 c.8A>G p.Q3R Substitution - Missense Stomach COSM4608206 TTF2 c.2714C>A p.A905E Substitution - Missense Adrenal_gland COSM125342 PHIP c.5401A>G p.T1801A Substitution - Missense Upper_aerodigestive_tract COSM42028 TET2 c.3640C>T p.R1214W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1285703 KDM5A c.3219G>T p.V1073V Substitution - coding silent Autonomic_ganglia COSM3461521 KMT2D c.13356C>T p.F4452F Substitution - coding silent Skin COSM3756294 SMARCA4 c.4584C>T p.D1528D Substitution - coding silent Large_intestine COSM1123030 SMC1A c.2131C>T p.R711W Substitution - Missense Endometrium COSM4150127 KMT2D c.13981G>A p.E4661K Substitution - Missense Ovary COSM4061078 BRD7 c.1563G>T p.L521L Substitution - coding silent Stomach COSM1633471 SMARCA5 c.1506A>G p.V502V Substitution - coding silent Liver COSM3750192 PHF2 c.2964G>T p.P988P Substitution - coding silent Large_intestine COSM4897736 KMT2D c.13644G>A p.L4548L Substitution - coding silent Skin COSM4671985 CHD3 c.4358+2T>C p.? Unknown Large_intestine COSM5031080 KDM6A c.335-8_335-7CC>GA p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4825977 TP53BP1 c.3376G>C p.E1126Q Substitution - Missense Cervix COSM1630066 NCOR1 c.515C>T p.S172L Substitution - Missense Central_nervous_system COSM1230114 TP53BP1 c.5449C>A p.L1817M Substitution - Missense Large_intestine COSM1661941 GABRG1 c.814T>A p.Y272N Substitution - Missense Kidney COSM4575587 SMARCC2 c.339T>C p.N113N Substitution - coding silent Bone COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM80460 RNF17 c.1590A>T p.G530G Substitution - coding silent Ovary COSM5918682 KDM3B c.479G>A p.G160E Substitution - Missense Skin COSM5346915 ARID1A c.2193delC p.Q732fs*10 Deletion - Frameshift Endometrium COSM3913643 HCFC1 c.2375C>T p.T792I Substitution - Missense Skin COSM4787586 PHC2 c.1930C>A p.L644I Substitution - Missense Liver COSM5383267 MGA c.2281C>T p.P761S Substitution - Missense Skin COSM1055650 GABRG1 c.253+1G>A p.? Unknown Endometrium COSM1725258 SETDB2 c.989A>C p.K330T Substitution - Missense Large_intestine COSM5730563 PRDM5 c.1443A>T p.K481N Substitution - Missense Breast COSM3156876 HDAC2 c.1125T>A p.P375P Substitution - coding silent Large_intestine COSM3661808 NIPBL c.819A>T p.R273S Substitution - Missense Liver COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1462698 KDM4C c.1148C>A p.P383H Substitution - Missense Large_intestine COSM5944473 DNMT3A c.2309_2310insCG p.R771fs*9 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1124910 TAF1 c.3694A>G p.R1232G Substitution - Missense Endometrium COSM2813374 CARM1 c.1549G>A p.A517T Substitution - Missense Upper_aerodigestive_tract COSM3526972 L3MBTL4 c.1338C>T p.F446F Substitution - coding silent Skin COSM5947659 KMT2D c.9689delG p.G3230fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3010243 PHF17 c.824C>A p.T275N Substitution - Missense Upper_aerodigestive_tract COSM4044314 CHD4 c.4104G>T p.V1368V Substitution - coding silent Stomach COSM5399495 SMARCC1 c.2988C>T p.P996P Substitution - coding silent Skin COSM1464313 TDRD7 c.2792C>A p.P931H Substitution - Missense Large_intestine COSM1121596 KDM6A c.2911C>T p.R971C Substitution - Missense Prostate COSM4574549 PHRF1 c.3008A>C p.K1003T Substitution - Missense Bone COSM3600226 PHF17 c.80C>T p.S27F Substitution - Missense Skin COSM1681967 BRWD1 c.584A>G p.D195G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM76529 SMC1A c.2684G>A p.R895H Substitution - Missense Large_intestine COSM53210 ASXL1 c.2921_2922insTCTT p.C975fs*8 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3928196 ARID1B c.4678A>G p.M1560V Substitution - Missense Central_nervous_system COSM3408415 MECOM c.9C>T p.S3S Substitution - coding silent Central_nervous_system COSM3779230 MYST3 c.5221G>T p.A1741S Substitution - Missense Urinary_tract COSM1713595 EYA2 c.683G>A p.G228E Substitution - Missense Skin COSM133580 ASXL1 c.2222A>T p.D741V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384700 KMT2D c.13664G>A p.R4555Q Substitution - Missense Upper_aerodigestive_tract COSM3855033 NIPBL c.5167C>T p.R1723* Substitution - Nonsense Stomach COSM4680488 EHMT1 c.2034C>T p.P678P Substitution - coding silent Large_intestine COSM3364326 BAZ2B c.2230G>C p.E744Q Substitution - Missense Kidney COSM24617 SMARCB1 c.1_628del628 p.? Unknown Soft_tissue COSM3620780 EYA4 c.71C>T p.S24F Substitution - Missense Skin COSM1645715 CHD4 c.2108C>T p.T703M Substitution - Missense Kidney COSM4383631 IDH1 c.1021G>T p.A341S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5596496 CHD7 c.673C>T p.P225S Substitution - Missense Skin COSM1524017 SMARCA4 c.2539C>T p.Q847* Substitution - Nonsense Ovary COSM204731 BRD8 c.2962G>A p.E988K Substitution - Missense Pancreas COSM1492016 SMYD3 c.79G>A p.E27K Substitution - Missense Kidney COSM144220 ATRX c.6761A>G p.H2254R Substitution - Missense Central_nervous_system COSM3365354 SETD2 c.3335T>C p.I1112T Substitution - Missense Kidney COSM5919067 PHIP c.1083G>C p.L361F Substitution - Missense Skin COSM4791972 RBBP4 c.178G>C p.D60H Substitution - Missense Liver COSM1628643 KMT2D c.5299+3A>T p.? Unknown Liver COSM5075571 SETD2 c.6020G>T p.R2007L Substitution - Missense Kidney COSM5618049 ARID1A c.3895A>T p.N1299Y Substitution - Missense Breast COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5686157 PRDM5 c.889T>C p.C297R Substitution - Missense Soft_tissue COSM4456952 TRIM66 c.1028C>T p.P343L Substitution - Missense Skin COSM4517560 KIAA2026_ENST00000399933 c.3731_3732GG>AA p.G1244E Substitution - Missense Skin COSM5049061 CREBBP c.3414C>G p.I1138M Substitution - Missense Oesophagus COSM124693 NCOA6 c.4742G>A p.R1581K Substitution - Missense Upper_aerodigestive_tract COSM4954408 BAZ1B c.2595G>A p.V865V Substitution - coding silent Liver COSM21478 HNF1A c.618G>T p.W206C Substitution - Missense Liver COSM1341426 ARID1A c.5542delG p.D1850fs*33 Deletion - Frameshift Biliary_tract COSM421132 CHD1 c.2080C>T p.L694L Substitution - coding silent Urinary_tract COSM1025811 DNMT3B c.2340G>A p.S780S Substitution - coding silent Endometrium COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3412551 TRRAP c.11236C>T p.R3746W Substitution - Missense Central_nervous_system COSM4424971 SIRT1 c.2199G>A p.V733V Substitution - coding silent Oesophagus COSM70300 CREBBP c.4358T>C p.I1453T Substitution - Missense Ovary COSM4804090 EP300 c.1401C>G p.A467A Substitution - coding silent Liver COSM1244198 ACTR6 c.973C>T p.L325F Substitution - Missense Oesophagus COSM5197730 DNMT3L c.963C>A p.V321V Substitution - coding silent Upper_aerodigestive_tract COSM211728 TET2 c.3965T>A p.L1322Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4506650 EHMT1 c.632C>T p.S211F Substitution - Missense Skin COSM1684722 SETBP1 c.2608G>C p.G870R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4847231 KDM5A c.4513G>C p.D1505H Substitution - Missense Cervix COSM3795307 SMYD4 c.1764G>T p.K588N Substitution - Missense Urinary_tract COSM5819940 DNMT1 c.3023G>A p.R1008K Substitution - Missense Liver COSM5756893 PHF3 c.4276G>A p.E1426K Substitution - Missense Large_intestine COSM3730437 ACTA1 c.963G>A p.A321A Substitution - coding silent Stomach COSM198796 PHF2 c.1468delA p.K492fs*6 Deletion - Frameshift Prostate COSM1666806 BAP1 c.518A>G p.Y173C Substitution - Missense Biliary_tract COSM984401 ZBTB4 c.2912C>T p.A971V Substitution - Missense Endometrium COSM4834465 CHD4 c.5259G>A p.Q1753Q Substitution - coding silent Cervix COSM5392258 ZMYND8 c.1405G>A p.D469N Substitution - Missense Skin COSM1071 SMARCB1 c.838G>T p.E280* Substitution - Nonsense Soft_tissue COSM1051599 SMARCA5 c.205A>C p.K69Q Substitution - Missense Endometrium COSM1336718 TDRD5 c.2182C>A p.P728T Substitution - Missense Large_intestine COSM4773885 ZMYND8 c.883_884delAG p.S295fs*24 Deletion - Frameshift Stomach COSM1202569 CTCF c.2077G>A p.D693N Substitution - Missense Large_intestine COSM304591 NCOA2 c.4382G>A p.R1461Q Substitution - Missense Large_intestine COSM1636385 PHF6 c.418+8A>G p.? Unknown Liver COSM1027503 EYA2 c.529_530delTA p.Y177fs*45 Deletion - Frameshift Endometrium COSM4801878 DAXX c.872G>T p.R291L Substitution - Missense Liver COSM4771393 PBRM1 c.? p.K414* Substitution - Nonsense Kidney COSM1088807 CBX3 c.218T>A p.I73N Substitution - Missense Endometrium COSM1747182 MBD6 c.2545C>A p.L849I Substitution - Missense Urinary_tract COSM4766167 TET2 c.5298C>G p.Y1766* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM34090 IDH2 c.516G>T p.R172S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5805568 KDM3A c.40G>T p.G14W Substitution - Missense Liver COSM5490615 KMT2A c.3310A>G p.I1104V Substitution - Missense Biliary_tract COSM1331674 BRWD3 c.4901A>T p.D1634V Substitution - Missense Ovary COSM3874532 TDRD6 c.3586A>C p.S1196R Substitution - Missense Stomach COSM993 SMARCB1 c.601C>T p.R201* Substitution - Nonsense Central_nervous_system COSM41843 TET2 c.? p.T1372I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1316066 KMT2D c.7591C>T p.R2531* Substitution - Nonsense Oesophagus COSM1373625 PYGO1 c.538C>T p.P180S Substitution - Missense Large_intestine COSM4918276 KMT2C c.9968A>C p.H3323P Substitution - Missense Liver COSM5814758 PRDM8 c.263G>T p.W88L Substitution - Missense Liver COSM3377366 CHD8 c.3533G>A p.R1178H Substitution - Missense Pancreas COSM265920 TAF1L c.2842G>A p.A948T Substitution - Missense Large_intestine COSM4891471 MTA1 c.1169G>A p.G390D Substitution - Missense Upper_aerodigestive_tract COSM4386857 KMT2A c.1000A>G p.R334G Substitution - Missense Lung COSM1416292 CBX6 c.484C>T p.R162C Substitution - Missense Large_intestine COSM6014803 CHD4 c.2226T>C p.A742A Substitution - coding silent Skin COSM3567430 MBD5 c.354C>T p.A118A Substitution - coding silent Skin COSM931210 SUV420H1 c.1844G>A p.R615Q Substitution - Missense Endometrium COSM4385269 EP300 c.7126C>A p.L2376I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1620275 NIPBL c.7352A>G p.H2451R Substitution - Missense Liver COSM1680361 MBD1 c.1075A>G p.K359E Substitution - Missense Large_intestine COSM41894 TET2 c.? p.P1962L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1495575 SETD2 c.4704T>A p.N1568K Substitution - Missense Kidney COSM1331707 TAF1 c.3319A>C p.M1107L Substitution - Missense Ovary COSM4590784 ATF7IP c.2647C>A p.Q883K Substitution - Missense Upper_aerodigestive_tract COSM5418157 MECOM c.1772G>T p.S591I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1694772 TET2 c.2920C>T p.H974Y Substitution - Missense Skin COSM1236142 SETBP1 c.1879C>T p.R627C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1440971 SHPRH c.1371delA p.G458fs*26 Deletion - Frameshift Large_intestine COSM4829504 SRCAP c.5322G>A p.S1774S Substitution - coding silent Cervix COSM3675144 CHD7 c.337G>C p.V113L Substitution - Missense Prostate COSM5888301 SETD1A c.2929-6C>T p.? Unknown Upper_aerodigestive_tract COSM28793 KDM6A c.4161_4162delTG p.Y1387fs*1 Deletion - Frameshift Kidney COSM144702 PHF6 c.? p.C283R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5882433 TDRD3 c.1328G>C p.R443T Substitution - Missense Large_intestine COSM3758929 AIRE c.681C>T p.G227G Substitution - coding silent Large_intestine COSM1161417 SMARCB1 c.1126A>G p.R376G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1041037 PHC3 c.2461C>T p.R821C Substitution - Missense Endometrium COSM2151713 CHD9 c.480T>A p.H160Q Substitution - Missense Central_nervous_system COSM4880444 PHIP c.4155C>T p.V1385V Substitution - coding silent Prostate COSM1625590 FMR1 c.616A>G p.S206G Substitution - Missense Liver COSM1183764 ASH2L c.377C>T p.A126V Substitution - Missense Large_intestine COSM242597 PHF10 c.467C>T p.P156L Substitution - Missense Prostate COSM3982985 PHF2 c.1122G>A p.G374G Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1717671 ZMYND8 c.2373delC p.A792fs*28 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM186813 NIPBL c.3659C>T p.A1220V Substitution - Missense Large_intestine COSM51427 ARID1A c.3211_3211delA p.K1072fs*21 Deletion - Frameshift Endometrium COSM4840743 SET c.604G>T p.D202Y Substitution - Missense Cervix COSM4060956 GLYR1 c.505C>T p.R169W Substitution - Missense Stomach COSM1624857 SMARCA2 c.3559G>C p.A1187P Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1114767 SMARCA1 c.2978G>A p.R993Q Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4385423 ATRX c.2770C>A p.L924I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM308640 BRD8 c.532_533insC p.R178fs*20 Insertion - Frameshift Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM187703 MGA c.7450C>T p.R2484W Substitution - Missense Large_intestine COSM1363037 SMARCC2 c.3274_3276delCCT p.P1092delP Deletion - In frame Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1381178 SMYD4 c.742G>A p.V248I Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3736439 STK31 c.1863T>G p.N621K Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1177184 NSD1 c.1810C>T p.R604* Substitution - Nonsense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Bone COSM4666262 BRWD3 c.4253G>A p.R1418Q Substitution - Missense Large_intestine COSM76526 SMARCB1 c.784G>A p.V262I Substitution - Missense Breast COSM75578 NCOA6 c.5408C>A p.S1803Y Substitution - Missense Ovary COSM3983563 AKAP1 c.562G>A p.E188K Substitution - Missense Ovary COSM4494644 MGA c.4372C>T p.P1458S Substitution - Missense Skin COSM3848247 SMARCA2 c.3036G>A p.L1012L Substitution - coding silent Breast COSM956519 ARID4A c.43G>A p.D15N Substitution - Missense Endometrium COSM76060 PRMT8 c.740T>G p.M247R Substitution - Missense Ovary COSM4753745 SETBP1 c.4052A>C p.N1351T Substitution - Missense Stomach COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5704654 MPHOSPH8 c.2249C>A p.P750Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1055646 GABRG1 c.422G>A p.G141E Substitution - Missense Endometrium COSM3939031 NCOA1 c.3010C>T p.L1004F Substitution - Missense Oesophagus COSM3822594 LMNB2 c.1620C>T p.F540F Substitution - coding silent Breast COSM53527 TRRAP c.8591G>T p.W2864L Substitution - Missense Liver COSM3471577 TRIM33 c.1963C>G p.R655G Substitution - Missense Skin COSM2965370 KDM6A c.2040C>T p.N680N Substitution - coding silent Upper_aerodigestive_tract COSM453255 ACTB c.1004G>C p.R335P Substitution - Missense Breast COSM2810356 ASXL3 c.1739delA p.V583fs*59 Deletion - Frameshift Large_intestine COSM4488667 GTF3C1 c.3362C>T p.S1121F Substitution - Missense Skin COSM4589653 CHD8 c.3800_3801insGA p.F1268fs*19 Insertion - Frameshift Skin COSM4961363 KDM3B c.2630-1G>A p.? Unknown Liver COSM438457 DNMT1 c.2505C>T p.I835I Substitution - coding silent Breast COSM414471 PRDM16 c.2807C>T p.P936L Substitution - Missense Urinary_tract COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1094 SMARCB1 c.1158+145C>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM40058 EPC1 c.2035G>A p.V679M Substitution - Missense Central_nervous_system COSM43485 TET2 c.490_491delAC p.T164fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM146277 RAI1 c.840delG p.Q280fs*84 Deletion - Frameshift Ovary COSM144224 ATRX c.4745_4746insA p.K1584fs*17 Insertion - Frameshift Central_nervous_system COSM178098 BRD9 c.885G>A p.S295S Substitution - coding silent Endometrium COSM190062 MSH6 c.1082G>A p.R361H Substitution - Missense Large_intestine COSM211616 TET2 c.3054_3066del13 p.N1018fs*11 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM216431 SETBP1 c.147G>A p.P49P Substitution - coding silent Pancreas COSM225883 KMT2C c.2968A>G p.S990G Substitution - Missense Skin COSM243249 BRWD3 c.799A>C p.I267L Substitution - Missense Prostate COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Prostate COSM249142 DNMT3A c.2185C>T p.R729W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM249142 DNMT3A c.2185C>T p.R729W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM254543 ARID1A c.5698G>A p.D1900N Substitution - Missense Urinary_tract COSM254840 NCOR1 c.197G>A p.R66Q Substitution - Missense Urinary_tract COSM272362 ATF7IP c.2247A>G p.A749A Substitution - coding silent Large_intestine COSM273327 TAF1L c.1907G>A p.R636H Substitution - Missense Endometrium COSM291792 BRWD1 c.3937T>C p.Y1313H Substitution - Missense Large_intestine COSM315769 TAF1 c.4517C>T p.A1506V Substitution - Missense Large_intestine COSM324797 BAZ1B c.2518A>T p.S840C Substitution - Missense Lung COSM337650 ACTA1 c.74G>T p.G25V Substitution - Missense Lung COSM384452 PHF17 c.1178C>T p.P393L Substitution - Missense Lung COSM382737 HCFC1 c.1353C>T p.A451A Substitution - coding silent Lung COSM424710 TDRD5 c.2758T>C p.L920L Substitution - coding silent Breast COSM430522 HNF1A c.79A>C p.I27L Substitution - Missense Soft_tissue COSM458498 PHRF1 c.2749G>C p.E917Q Substitution - Missense Cervix COSM474149 SMARCA4 c.3379G>T p.D1127Y Substitution - Missense Pancreas COSM979849 HDAC5 c.3028G>A p.A1010T Substitution - Missense Endometrium COSM979877 HDAC5 c.588G>T p.K196N Substitution - Missense Endometrium COSM985419 CHD3 c.107A>G p.D36G Substitution - Missense Endometrium COSM973981 CDYL2 c.42C>A p.D14E Substitution - Missense Endometrium COSM1021299 MSH6 c.3300G>A p.T1100T Substitution - coding silent Large_intestine COSM741398 TCF19 c.600G>C p.K200N Substitution - Missense Lung COSM745839 KMT2C c.1804C>G p.L602V Substitution - Missense Lung COSM704683 CDYL2 c.1439T>C p.L480P Substitution - Missense Lung COSM907726 ARID1A c.4336C>T p.R1446* Substitution - Nonsense Stomach COSM933792 ACTR6 c.319G>T p.E107* Substitution - Nonsense Endometrium COSM946202 RNF17 c.1297C>T p.R433W Substitution - Missense Endometrium COSM1071556 CHD1 c.256-1G>T p.? Unknown Endometrium COSM969246 GTF3C1 c.5697C>T p.P1899P Substitution - coding silent Endometrium COSM1078481 BRPF3 c.273G>T p.K91N Substitution - Missense Endometrium COSM1135800 CHD9 c.6936C>T p.S2312S Substitution - coding silent Kidney COSM1081870 PHIP c.1136G>T p.R379M Substitution - Missense Endometrium COSM1230645 TRRAP c.10853C>T p.P3618L Substitution - Missense Large_intestine COSM1183543 ARID1A c.3325C>T p.R1109W Substitution - Missense Large_intestine COSM1163714 AKAP1 c.720delG p.E242fs*22 Deletion - Frameshift Pancreas COSM1163731 ADNP c.3047delA p.K1016fs*11 Deletion - Frameshift Large_intestine COSM1583136 DNMT3A c.2644C>G p.R882G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1220321 PHC2 c.1082C>A p.P361Q Substitution - Missense Large_intestine COSM1333992 POGZ c.2203C>T p.R735C Substitution - Missense Large_intestine COSM1323751 CHD2 c.221A>G p.K74R Substitution - Missense Ovary COSM1427200 SETD7 c.460G>A p.A154T Substitution - Missense Large_intestine COSM1416490 EP300 c.5193C>T p.R1731R Substitution - coding silent Large_intestine COSM1453213 TRRAP c.9187G>A p.V3063I Substitution - Missense Large_intestine COSM1365736 ZMYM2 c.3742delA p.N1250fs*3 Deletion - Frameshift Large_intestine COSM1349127 KAT6B c.3270T>G p.D1090E Substitution - Missense Large_intestine COSM1620896 L3MBTL3 c.1340_1341insT p.S449fs*4 Insertion - Frameshift Liver COSM1578688 BRWD3 c.3144G>C p.W1048C Substitution - Missense Meninges COSM1668543 ACTA1 c.766C>T p.R256C Substitution - Missense Large_intestine COSM1675577 TDRD1 c.2499A>G p.I833M Substitution - Missense Large_intestine COSM1688381 TTF2 c.71A>T p.N24I Substitution - Missense Skin COSM1703073 TDRD1 c.2105C>T p.P702L Substitution - Missense Skin COSM1664526 TET2 c.2744C>T p.A915V Substitution - Missense Kidney COSM1660731 BAZ1B c.3970G>T p.D1324Y Substitution - Missense Kidney COSM1737890 TET2 c.3845G>A p.G1282D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1943922 TDRD3 c.673G>A p.A225T Substitution - Missense Large_intestine COSM1753245 DHX30 c.2550G>A p.E850E Substitution - coding silent Urinary_tract COSM2006647 KMT2D c.14480G>A p.R4827Q Substitution - Missense Large_intestine COSM2151099 DAXX c.1759T>C p.S587P Substitution - Missense Central_nervous_system COSM2720111 CHD7 c.5912A>C p.E1971A Substitution - Missense Large_intestine COSM2739021 NCOR1 c.2833C>T p.P945S Substitution - Missense Large_intestine COSM2777600 KIAA2026_ENST00000399933 c.2340C>T p.I780I Substitution - coding silent Skin COSM2853478 BAP1 c.1120_1126delGAAGAAG p.E374fs*54 Deletion - Frameshift Oesophagus COSM2866899 TRRAP c.11108C>T p.T3703M Substitution - Missense Large_intestine COSM2866823 TRRAP c.9441C>T p.G3147G Substitution - coding silent Stomach COSM2911483 NCOA1 c.3954C>T p.T1318T Substitution - coding silent Large_intestine COSM3010212 PHF17 c.50G>A p.G17D Substitution - Missense Large_intestine COSM3095682 TAF1 c.229C>T p.L77L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3291676 CHD6 c.4199G>A p.R1400H Substitution - Missense Liver COSM3365442 TET2 c.976A>T p.K326* Substitution - Nonsense Kidney COSM3410219 PRDM9 c.1553T>A p.I518N Substitution - Missense Central_nervous_system COSM3406473 SMC1A c.854+1G>A p.? Unknown Central_nervous_system COSM3397611 PRMT3 c.987G>A p.E329E Substitution - coding silent Central_nervous_system COSM3443957 KMT2A c.4219-2A>G p.? Unknown Skin COSM3460981 ARID2 c.4509T>G p.V1503V Substitution - coding silent Skin COSM3618960 CHD1 c.1894G>A p.D632N Substitution - Missense Skin COSM3615205 PRDM9 c.925G>A p.D309N Substitution - Missense Skin COSM3589864 MECOM c.1756G>A p.D586N Substitution - Missense Skin COSM3555058 TCF20 c.1509C>T p.G503G Substitution - coding silent Skin COSM3524746 AP001011.3_ENST00000320876 c.2506C>T p.R836C Substitution - Missense Skin COSM3662395 EHMT2 c.1365+9G>A p.? Unknown Liver COSM3664380 KIAA2026_ENST00000399933 c.1390G>T p.D464Y Substitution - Missense Liver COSM3686825 SIRT1 c.341C>A p.P114Q Substitution - Missense Large_intestine COSM3717555 BPTF c.8022A>T p.T2674T Substitution - coding silent Liver COSM3709083 ATF2 c.228G>A p.L76L Substitution - coding silent Liver COSM3752792 TRIM66 c.1397A>G p.H466R Substitution - Missense Upper_aerodigestive_tract COSM3783196 MBD3 c.193C>A p.R65S Substitution - Missense Prostate COSM3798859 NCOA1 c.395G>A p.R132K Substitution - Missense Urinary_tract COSM3942706 CHD7 c.8424C>T p.N2808N Substitution - coding silent Oesophagus COSM3881871 ACTB c.864C>T p.D288D Substitution - coding silent Stomach COSM4015481 SFMBT2 c.2337A>G p.R779R Substitution - coding silent Stomach COSM4006007 PRDM9 c.1718T>C p.I573T Substitution - Missense Urinary_tract COSM3998641 TDG c.1099G>A p.V367M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4099058 ZMYND8 c.3108C>A p.C1036* Substitution - Nonsense Stomach COSM4126228 PRDM8 c.858T>C p.G286G Substitution - coding silent Stomach COSM4064167 NCOR1 c.1768A>G p.T590A Substitution - Missense Stomach COSM4134597 NCOA5 c.1257C>A p.P419P Substitution - coding silent Thyroid COSM4156642 FMR1 c.357A>C p.K119N Substitution - Missense Upper_aerodigestive_tract COSM4383890 TET2 c.3160delG p.V1054fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4384246 EZH2 c.2084C>T p.S695L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4400909 SMYD4 c.1480A>G p.R494G Substitution - Missense Skin COSM4596520 NCOA7 c.2723A>T p.D908V Substitution - Missense Upper_aerodigestive_tract COSM4602848 BPTF c.8028_8029insCCTCCAGCC p.P2684_P2685insAPP Insertion - In frame Lung COSM4606140 KMT2D c.8539G>T p.E2847* Substitution - Nonsense Upper_aerodigestive_tract COSM4547315 IDH1 c.419G>A p.R140K Substitution - Missense Skin COSM4575616 MBD6 c.551delT p.F185fs*83 Deletion - Frameshift Bone COSM4563108 SRCAP c.958G>C p.E320Q Substitution - Missense Skin COSM4584646 SETD5_ENST00000402198 c.2050A>G p.I684V Substitution - Missense Bone COSM4532583 PRDM16 c.189G>A p.K63K Substitution - coding silent Skin COSM4509099 PHRF1 c.796C>T p.R266* Substitution - Nonsense Skin COSM4483906 HDAC4 c.2749C>T p.P917S Substitution - Missense Skin COSM4717447 PRDM10 c.2100C>T p.A700A Substitution - coding silent Large_intestine COSM4703530 MTF2 c.216G>T p.L72F Substitution - Missense Large_intestine COSM4730999 SUV420H1 c.281G>A p.G94D Substitution - Missense Large_intestine COSM4731005 SUV420H2 c.118delC p.L42fs*15 Deletion - Frameshift Large_intestine COSM4766111 TET2 c.5621A>G p.E1874G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4625408 BRD8 c.717C>T p.V239V Substitution - coding silent Large_intestine COSM4747396 BPTF c.2590delA p.E867fs*16 Deletion - Frameshift Biliary_tract COSM4791756 CHD8 c.2436G>A p.R812R Substitution - coding silent Liver COSM4895809 CHD8 c.5725C>T p.R1909W Substitution - Missense Skin COSM4908593 DNMT3A c.2204A>C p.Y735S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4954000 SMARCA1 c.95C>A p.S32Y Substitution - Missense Liver COSM4954673 BRD1 c.1078C>T p.L360L Substitution - coding silent Liver COSM4950095 EPC1 c.313+2T>A p.? Unknown Liver COSM4986331 SETD8 c.47C>A p.A16E Substitution - Missense Soft_tissue COSM5369488 SETMAR c.367C>T p.R123* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5365808 DIDO1 c.6497delG p.G2166fs*>75 Deletion - Frameshift Large_intestine COSM5353399 ARID1A c.1153G>T p.D385Y Substitution - Missense Large_intestine COSM5490841 TDRD6 c.261C>T p.V87V Substitution - coding silent Biliary_tract COSM5759006 BRWD3 c.1189G>C p.E397Q Substitution - Missense Bone COSM5747919 SMCHD1 c.2060G>A p.R687H Substitution - Missense Pancreas COSM5738178 TIF1 c.2507G>A p.C836Y Substitution - Missense Small_intestine COSM5721606 PWWP2B c.1096C>T p.P366S Substitution - Missense Skin COSM5610629 SMARCA4 c.547C>T p.Q183* Substitution - Nonsense Skin COSM5600632 TCF20 c.4975A>T p.K1659* Substitution - Nonsense Skin COSM5750556 ATRX c.3925G>A p.E1309K Substitution - Missense Stomach COSM5555348 SFMBT1 c.1048G>T p.G350C Substitution - Missense Prostate COSM5611441 BAP1 c.676_679delATCC p.I226fs*4 Deletion - Frameshift Pleura COSM5781969 CHD9 c.4784A>T p.D1595V Substitution - Missense Breast COSM5779646 DHX30 c.3156A>G p.S1052S Substitution - coding silent Breast COSM5833098 CHD9 c.159_160insTT p.N54fs*13 Insertion - Frameshift Breast COSM5830029 BRD8 c.2250-3delT p.? Unknown Large_intestine COSM5821854 KMT2D c.7317A>T p.A2439A Substitution - coding silent Liver COSM5919601 PHF20L1 c.149G>A p.W50* Substitution - Nonsense Skin COSM6006422 SMARCB1 c.726_727delAC p.Q243fs*37 Deletion - Frameshift Central_nervous_system COSM5996575 PHF3 c.2578G>A p.G860R Substitution - Missense Prostate COSM5349512 ARID1A c.?_?ins? p.G1847fs*? Insertion - Frameshift Endometrium COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41882 TET2 c.2525C>A p.S842* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1666619 ARID1A c.? p.R2153fs*65 Unknown Ovary COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4411948 KDM6A c.? p.N1070fs*13 Unknown Urinary_tract COSM1034591 L3MBTL2 c.1497G>A p.P499P Substitution - coding silent Endometrium COSM2149381 DNMT3B c.1634G>A p.R545H Substitution - Missense Central_nervous_system COSM3987929 BAHD1 c.2308T>C p.F770L Substitution - Missense Kidney COSM1329893 STK31 c.1228G>T p.G410* Substitution - Nonsense Ovary COSM1631924 HDAC4 c.541A>G p.N181D Substitution - Missense Liver COSM4914896 KMT2A c.572C>G p.S191* Substitution - Nonsense Liver COSM3376723 POGZ c.478G>A p.V160I Substitution - Missense Pancreas COSM259537 ATAD2B_ENST00000238789 c.4126A>C p.K1376Q Substitution - Missense Large_intestine COSM2931315 DIDO1 c.418G>C p.E140Q Substitution - Missense Upper_aerodigestive_tract COSM1061361 KDM3B c.4378C>T p.R1460W Substitution - Missense Large_intestine COSM365624 RAG2 c.1335C>A p.Y445* Substitution - Nonsense Lung COSM5727191 BAHCC1 c.5837C>T p.P1946L Substitution - Missense Skin COSM3402317 CREBBP c.5986G>A p.A1996T Substitution - Missense Central_nervous_system COSM1205372 EP300 c.5807C>T p.A1936V Substitution - Missense Large_intestine COSM1485511 SETD5_ENST00000402198 c.2377A>G p.M793V Substitution - Missense Breast COSM727028 EP300 c.4241A>G p.Y1414C Substitution - Missense Oesophagus COSM1109605 KDM4C c.2356C>T p.R786* Substitution - Nonsense Skin COSM5454911 MBD5 c.3684T>C p.H1228H Substitution - coding silent Large_intestine COSM1638241 CHD9 c.3234G>A p.M1078I Substitution - Missense Bone COSM2152568 KAT5 c.876C>T p.V292V Substitution - coding silent Central_nervous_system COSM5346192 ARID2 c.598A>C p.I200L Substitution - Missense Urinary_tract COSM1238710 DNMT1 c.1696G>A p.E566K Substitution - Missense Oesophagus COSM12939 TRIM33 c.2431G>A p.E811K Substitution - Missense Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4717893 PRMT6 c.412A>G p.S138G Substitution - Missense Large_intestine COSM1568040 SHPRH c.1895G>C p.C632S Substitution - Missense Large_intestine COSM3578881 SP140 c.267C>T p.V89V Substitution - coding silent Skin COSM43504 TET2 c.2290_2291insC p.Q764fs*5 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM907736 ARID1A c.5197G>T p.E1733* Substitution - Nonsense Urinary_tract COSM1645445 CREBBP c.2455G>A p.V819M Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM1060 SMARCB1 c.1144delG p.A382fs*4 Deletion - Frameshift Central_nervous_system COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM463110 ASH1L c.578C>A p.P193Q Substitution - Missense Kidney COSM3710745 KDM5A c.3061G>T p.E1021* Substitution - Nonsense Upper_aerodigestive_tract COSM3661810 NIPBL c.4040C>T p.T1347I Substitution - Missense Liver COSM2968167 SMC1A c.2701G>A p.A901T Substitution - Missense Liver COSM931015 KDM2A c.984C>T p.F328F Substitution - coding silent Endometrium COSM3989659 CARM1 c.531G>A p.L177L Substitution - coding silent Kidney COSM1226795 SMARCD2 c.700C>T p.R234W Substitution - Missense Large_intestine COSM5723824 TDRD6 c.5198G>T p.S1733I Substitution - Missense Skin COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM472344 NCOR1 c.5798T>C p.I1933T Substitution - Missense Kidney COSM1757212 TRRAP c.7624G>A p.E2542K Substitution - Missense Urinary_tract COSM6000730 KMT2D c.7684G>A p.A2562T Substitution - Missense Prostate COSM4165663 KMT2A c.393C>A p.A131A Substitution - coding silent Kidney COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM211711 TET2 c.3453_3454insA p.G1152fs*5 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4939227 KDM6B c.3227A>G p.E1076G Substitution - Missense Liver COSM3668615 TCF20 c.3563G>T p.C1188F Substitution - Missense Liver COSM4836883 NCOA2 c.33C>T p.P11P Substitution - coding silent Cervix COSM4023045 ASH1L c.5472C>T p.D1824D Substitution - coding silent Stomach COSM1299330 PRMT8 c.154C>G p.Q52E Substitution - Missense Urinary_tract COSM4590719 KAT2A c.1583C>T p.S528F Substitution - Missense Upper_aerodigestive_tract COSM1716631 ATRX c.1074_1077delACTG p.I360fs*6 Deletion - Frameshift Central_nervous_system COSM1239175 JARID2 c.1266delG p.R425fs*36 Deletion - Frameshift Large_intestine COSM4113234 RUVBL1 c.756G>A p.G252G Substitution - coding silent Stomach COSM400390 SND1 c.612C>A p.D204E Substitution - Missense Lung COSM331277 ATF2 c.317A>G p.K106R Substitution - Missense Lung COSM4383963 TET2 c.5254A>T p.K1752* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5945679 ASXL1 c.2129_2129delG p.G710fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM97081 TET2 c.? p.T1114fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM5025519 LBR c.810C>G p.V270V Substitution - coding silent Breast COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM150428 KMT2C c.2958A>G p.P986P Substitution - coding silent Soft_tissue COSM4153117 TRRAP c.5790G>T p.K1930N Substitution - Missense Kidney COSM3386597 ARID4A c.907-8C>A p.? Unknown Pancreas COSM4004962 HDAC10 c.1757A>G p.Q586R Substitution - Missense Urinary_tract COSM5442112 HDAC5 c.2268C>T p.P756P Substitution - coding silent Oesophagus COSM120135 SETD2 c.2026G>C p.D676H Substitution - Missense Ovary COSM897120 LMNA c.1201C>T p.R401C Substitution - Missense Endometrium COSM4079927 UHRF1 c.791C>A p.T264K Substitution - Missense Stomach COSM4771210 BPTF c.3296C>T p.S1099L Substitution - Missense Skin COSM4021543 PRDM2 c.1498C>T p.R500W Substitution - Missense Stomach COSM3984155 PRDM2 c.265G>T p.D89Y Substitution - Missense Kidney COSM4137506 PHF21B c.1068C>A p.A356A Substitution - coding silent Ovary COSM5504880 SRCAP c.474_475insAC p.R159fs*12 Insertion - Frameshift Biliary_tract COSM1107186 EHMT1 c.3149G>A p.R1050H Substitution - Missense Endometrium COSM5064753 KDM5C c.3079G>A p.A1027T Substitution - Missense Stomach COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1733387 KMT2C c.12040G>T p.E4014* Substitution - Nonsense Pancreas COSM3796182 CHD3 c.1071G>T p.K357N Substitution - Missense Urinary_tract COSM3738950 PRDM10 c.2061G>A p.M687I Substitution - Missense Liver COSM740286 ARID1B c.1519C>T p.R507W Substitution - Missense Lung COSM79048 SETD2 c.5019T>A p.Y1673* Substitution - Nonsense Ovary COSM3875676 PHIP c.1824C>T p.G608G Substitution - coding silent Stomach COSM959475 SETD3 c.1445C>T p.A482V Substitution - Missense Endometrium COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5666902 SMC1A c.1609delG p.V537fs*42 Deletion - Frameshift Soft_tissue COSM3488225 PRDM16 c.2094C>T p.S698S Substitution - coding silent Skin COSM4106535 SMARCA1 c.2384G>A p.R795H Substitution - Missense Stomach COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Skin COSM5782802 L3MBTL3 c.1632G>C p.L544F Substitution - Missense Breast COSM3422497 BRD4 c.15C>T p.S5S Substitution - coding silent Large_intestine COSM5665615 ERCC6 c.4150delC p.L1384fs*10 Deletion - Frameshift Soft_tissue COSM4387034 MEN1 c.654+1G>A p.? Unknown Lung COSM360239 EYA4 c.193A>C p.T65P Substitution - Missense Lung COSM928849 PHRF1 c.183G>A p.A61A Substitution - coding silent Endometrium COSM415319 KMT2A c.9838C>T p.R3280* Substitution - Nonsense Urinary_tract COSM2732635 PHF2 c.3242G>T p.R1081M Substitution - Missense Large_intestine COSM4383533 DNMT3A c.2483G>A p.S828N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3873507 BRPF3 c.3233A>T p.E1078V Substitution - Missense Stomach COSM5627972 ZMYM6 c.1691G>A p.R564Q Substitution - Missense Oesophagus COSM69798 BAZ1B c.2696G>A p.R899H Substitution - Missense Ovary COSM921419 BTAF1 c.685G>T p.E229* Substitution - Nonsense Endometrium COSM1311009 NSD1 c.3388G>C p.E1130Q Substitution - Missense Urinary_tract COSM4404941 PBRM1 c.2886T>C p.D962D Substitution - coding silent Skin COSM4163052 NCOA2 c.2112C>A p.A704A Substitution - coding silent Thyroid COSM4883745 PRDM16 c.815G>T p.G272V Substitution - Missense Upper_aerodigestive_tract COSM570599 BAZ2B c.4171C>T p.Q1391* Substitution - Nonsense Skin COSM1103 SMARCB1 c.?_?del? p.?del Deletion - In frame Soft_tissue COSM1101389 PRDM14 c.1342C>T p.R448W Substitution - Missense Skin COSM3937590 JMJD6 c.1196G>A p.R399H Substitution - Missense Oesophagus COSM4186223 SETD8 c.464A>C p.Q155P Substitution - Missense Kidney COSM1446608 ACTL6B c.1200+1G>A p.? Unknown Large_intestine COSM1678412 TP53BP1 c.2810G>A p.S937N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3716029 CHD7 c.6163C>A p.L2055M Substitution - Missense Upper_aerodigestive_tract COSM4725177 SETD6 c.840T>C p.P280P Substitution - coding silent Large_intestine COSM41736 TET2 c.1526C>G p.S509* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4551900 DIDO1 c.543G>A p.L181L Substitution - coding silent Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5624372 INO80C c.337G>C p.A113P Substitution - Missense Oesophagus COSM256416 BRD8 c.2758G>T p.E920* Substitution - Nonsense Large_intestine COSM1716184 EZH2 c.? p.A682G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM462952 TDRKH c.825T>C p.S275S Substitution - coding silent Kidney COSM5725276 BRWD3 c.3635A>G p.Y1212C Substitution - Missense Skin COSM3372338 ATRX c.895A>G p.K299E Substitution - Missense Thyroid COSM4085891 BAZ2B c.1499G>T p.S500I Substitution - Missense Stomach COSM5734682 PHF7 c.700G>A p.E234K Substitution - Missense Pancreas COSM3820664 JMJD6 c.754T>A p.F252I Substitution - Missense Breast COSM1966248 TAF3 c.980C>T p.T327M Substitution - Missense Large_intestine COSM3727322 CHD6 c.7199C>T p.S2400F Substitution - Missense Skin COSM423836 TDRKH c.1200G>A p.K400K Substitution - coding silent Breast COSM4421186 NCOA2 c.3946A>C p.T1316P Substitution - Missense Pleura COSM309542 BRWD3 c.3446G>A p.R1149Q Substitution - Missense Lung COSM1245607 ASXL3 c.2410A>G p.R804G Substitution - Missense Oesophagus COSM1179001 KDM6A c.4034delC p.T1345fs*11 Deletion - Frameshift Prostate COSM312543 LMNB2 c.1682C>T p.S561L Substitution - Missense Soft_tissue COSM4507980 NSD1 c.7627C>T p.P2543S Substitution - Missense Skin COSM4942622 RNF2 c.476G>T p.G159V Substitution - Missense Liver COSM431201 KMT2D c.10066C>T p.R3356W Substitution - Missense Breast COSM1245458 ARID2 c.3445C>T p.Q1149* Substitution - Nonsense Oesophagus COSM1087588 KMT2C c.6082C>T p.R2028* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4003461 NSD1 c.6829T>C p.L2277L Substitution - coding silent Soft_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4840557 GLYR1 c.1550T>G p.V517G Substitution - Missense Cervix COSM698269 ARID4A c.1144T>G p.S382A Substitution - Missense Lung COSM3701163 PHF12 c.2754G>C p.G918G Substitution - coding silent Liver COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3418911 KDM1A c.944G>A p.R315Q Substitution - Missense Large_intestine COSM5377093 PRMT6 c.643C>T p.R215C Substitution - Missense Skin COSM254837 NCOR1 c.1446G>C p.K482N Substitution - Missense Urinary_tract COSM34192 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM23398 MEN1 c.249_252delGTCT p.I85fs*33 Deletion - Frameshift Pancreas COSM3704307 MBD6 c.930G>A p.V310V Substitution - coding silent Liver COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4106228 ZBTB33 c.1105G>T p.G369* Substitution - Nonsense Stomach COSM5407158 HDAC9 c.986C>T p.S329F Substitution - Missense Skin COSM3973906 ATRX c.5289T>G p.N1763K Substitution - Missense Central_nervous_system COSM5606937 POGZ c.1417T>A p.Y473N Substitution - Missense Skin COSM5974577 ZBTB38 c.2665C>T p.L889F Substitution - Missense Upper_aerodigestive_tract COSM308681 MSH6 c.3253_3254insC p.F1088fs*5 Insertion - Frameshift Large_intestine COSM2069259 RNF17 c.1608G>A p.V536V Substitution - coding silent Large_intestine COSM3719865 ASXL1 c.2160delC p.L721fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM6013462 TAF1L c.5474G>A p.G1825E Substitution - Missense Skin COSM4971706 SMARCB1 c.726_729delACAG p.R242fs*24 Deletion - Frameshift Central_nervous_system COSM5880750 PHF1 c.491A>G p.K164R Substitution - Missense Soft_tissue COSM4383938 TET2 c.4128C>A p.D1376E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1023030 PCGF1 c.283A>G p.I95V Substitution - Missense Endometrium COSM4922419 JARID2 c.574A>T p.T192S Substitution - Missense Liver COSM3754332 TP53BP1 c.1234G>A p.G412S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5752091 EP300 c.4879_4880insT p.R1627fs*46 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4169852 DNMT3A c.1_2739del2739 p.0? Whole gene deletion Adrenal_gland COSM4169948 DNMT3A c.2084T>C p.I695T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3963188 KDM3A c.1188C>T p.N396N Substitution - coding silent Lung COSM150424 KMT2C c.5068A>C p.R1690R Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3455601 PRDM4 c.987C>T p.V329V Substitution - coding silent Skin COSM3487585 ARID1A c.4062C>T p.F1354F Substitution - coding silent Skin COSM5013003 SRCAP c.5771A>C p.D1924A Substitution - Missense Kidney COSM1095761 ATAD2 c.1810C>T p.R604* Substitution - Nonsense Endometrium COSM4489575 TRDMT1 c.349C>T p.L117F Substitution - Missense Skin COSM146123 ZMYM1 c.347C>G p.P116R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3695549 SMEK2 c.473G>A p.R158H Substitution - Missense Large_intestine COSM3190638 HDAC5 c.688G>C p.G230R Substitution - Missense Large_intestine COSM4717485 PRDM16 c.113C>A p.A38D Substitution - Missense Large_intestine COSM5925410 CHD7 c.664C>T p.Q222* Substitution - Nonsense Skin COSM106672 RAG2 c.968G>A p.G323E Substitution - Missense Skin COSM5772386 INOC1 c.257G>C p.G86A Substitution - Missense Breast COSM1091563 BAZ1B c.1976T>C p.L659S Substitution - Missense Endometrium COSM1471961 ACTL6B c.551T>A p.V184D Substitution - Missense Prostate COSM4978327 MBD4 c.458C>G p.S153* Substitution - Nonsense Oesophagus COSM4853428 PRDM5 c.458C>G p.S153* Substitution - Nonsense Cervix COSM5002406 CHD4 c.414G>T p.E138D Substitution - Missense Large_intestine COSM908642 ZMYM1 c.1631C>T p.S544L Substitution - Missense Endometrium COSM5910760 PHRF1 c.2639C>T p.S880F Substitution - Missense Skin COSM5776840 WHSC1 c.3630G>A p.T1210T Substitution - coding silent Breast COSM1056167 CLOCK c.2017G>A p.G673R Substitution - Missense Large_intestine COSM3663765 MYST3 c.3798G>A p.K1266K Substitution - coding silent Liver COSM4635720 PSIP1 c.274T>A p.F92I Substitution - Missense Large_intestine COSM126321 SMC1A c.104G>T p.G35V Substitution - Missense Upper_aerodigestive_tract COSM1179138 MYST3 c.2237T>G p.I746S Substitution - Missense Prostate COSM4487080 CHD7 c.3139C>T p.H1047Y Substitution - Missense Skin COSM941096 CBX5 c.296A>C p.D99A Substitution - Missense Endometrium COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM907719 ARID1A c.3959C>A p.S1320Y Substitution - Missense Endometrium COSM1681610 ASXL1 c.2388G>T p.W796C Substitution - Missense Large_intestine COSM5700588 CHD7 c.1714C>G p.Q572E Substitution - Missense Soft_tissue COSM487371 TAF1L c.3731G>A p.R1244Q Substitution - Missense Kidney COSM311723 HDAC6 c.2800C>T p.L934L Substitution - coding silent Lung COSM1644128 TET2 c.? p.P411del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM985489 CHD3 c.3628C>T p.R1210W Substitution - Missense Endometrium COSM2965373 KDM6A c.2171T>C p.I724T Substitution - Missense Upper_aerodigestive_tract COSM3064156 BRD1 c.2382T>A p.L794L Substitution - coding silent Upper_aerodigestive_tract COSM3381616 TDRD6 c.5802C>T p.S1934S Substitution - coding silent Pancreas COSM1061335 KDM3B c.2054C>A p.S685Y Substitution - Missense Endometrium COSM2006635 KMT2D c.14662G>T p.E4888* Substitution - Nonsense Upper_aerodigestive_tract COSM4934721 MBD1 c.882A>G p.P294P Substitution - coding silent Liver COSM740322 JARID2 c.2634A>C p.P878P Substitution - coding silent Lung COSM1600770 SETDB1 c.2779A>C p.T927P Substitution - Missense Liver COSM3703125 SND1 c.315G>A p.Q105Q Substitution - coding silent Liver COSM5879007 TET2 c.3368C>A p.P1123H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1677492 EP400 c.6014G>A p.R2005Q Substitution - Missense Large_intestine COSM927107 PHF21A c.1839G>A p.T613T Substitution - coding silent Endometrium COSM5587970 HDAC9 c.871G>A p.E291K Substitution - Missense Skin COSM5985374 IDH2 c.568G>A p.G190S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4586238 EYA4 c.1248T>C p.L416L Substitution - coding silent Bone COSM5684625 BPTF c.910A>G p.T304A Substitution - Missense Soft_tissue COSM1659998 TCF20 c.3662A>T p.H1221L Substitution - Missense Kidney COSM4590050 PRDM10 c.1332A>C p.E444D Substitution - Missense Upper_aerodigestive_tract COSM5686256 TRRAP c.2257C>T p.P753S Substitution - Missense Soft_tissue COSM972486 CTCF c.1094A>C p.K365T Substitution - Missense Endometrium COSM225885 KMT2C c.1139G>T p.R380L Substitution - Missense Skin COSM1621859 PHF3 c.4440A>G p.V1480V Substitution - coding silent Liver COSM4473501 KMT2D c.1854C>T p.S618S Substitution - coding silent Skin COSM1401269 HAT1 c.106A>C p.K36Q Substitution - Missense Large_intestine COSM1349130 KAT6B c.3288G>A p.E1096E Substitution - coding silent Large_intestine COSM488644 ATRX c.128A>G p.N43S Substitution - Missense Kidney COSM3304642 KMT2C c.954G>A p.Q318Q Substitution - coding silent Skin COSM4800243 KDM4A c.2239G>T p.A747S Substitution - Missense Liver COSM4460889 CLOCK c.1183C>T p.L395F Substitution - Missense Skin COSM4840285 MBD5 c.788C>A p.S263Y Substitution - Missense Cervix COSM4427435 GATAD2A c.733G>T p.V245F Substitution - Missense Oesophagus COSM28789 KDM6A c.869_870insT p.G291fs*22 Insertion - Frameshift Lung COSM3642800 TRRAP c.6615C>T p.F2205F Substitution - coding silent Skin COSM5991513 SMARCB1 c.1148C>T p.P383L Substitution - Missense Skin COSM211717 TET2 c.3662G>A p.C1221Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM383201 BAHCC1 c.2852A>G p.Q951R Substitution - Missense Lung COSM1028989 DIDO1 c.1992G>A p.S664S Substitution - coding silent Endometrium COSM2175825 KDM2B c.2251T>C p.S751P Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5416366 BAZ2A_ENST00000379441 c.2445delG p.M815fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4483707 KAT6B c.2727C>T p.V909V Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4694992 KDM5A c.3596_3597delAA p.K1199fs*7 Deletion - Frameshift Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4554081 BAZ2B c.6102G>A p.K2034K Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2160385 SFMBT2 c.2586G>A p.T862T Substitution - coding silent Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5627391 KMT2C c.10560A>T p.P3520P Substitution - coding silent Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1257789 KMT2C c.9037delA p.T3013fs*19 Deletion - Frameshift Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5503188 ARID1B c.6165C>T p.N2055N Substitution - coding silent Biliary_tract COSM4444411 ARID2 c.2681A>G p.Q894R Substitution - Missense Large_intestine COSM5765199 LMNB2 c.1452G>T p.K484N Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM675748 ASH1L c.3123G>A p.K1041K Substitution - coding silent Lung COSM3378318 ZBTB4 c.493G>C p.A165P Substitution - Missense Pancreas COSM745476 TRIM24 c.1874C>T p.P625L Substitution - Missense Skin COSM5439742 HDAC4 c.313G>A p.E105K Substitution - Missense Oesophagus COSM4064351 RAI1 c.3361A>G p.S1121G Substitution - Missense Stomach COSM1312743 JHDM1D c.272C>A p.S91Y Substitution - Missense Urinary_tract COSM3416640 EP400 c.7849C>T p.R2617C Substitution - Missense Large_intestine COSM133031 ARID1A c.2988+1G>A p.? Unknown Pancreas COSM4799980 KDM4A c.2833G>C p.D945H Substitution - Missense Liver COSM4778349 TP53BP1 c.2960T>C p.L987P Substitution - Missense Liver COSM323276 SETD1A c.764A>C p.D255A Substitution - Missense Lung COSM5816574 SMYD3 c.803A>T p.Q268L Substitution - Missense Liver COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM907751 ARID1A c.6248C>A p.P2083H Substitution - Missense Endometrium COSM1238061 IKZF1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5989790 DNMT1 c.382C>A p.P128T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5599760 KDM6B c.3860C>T p.S1287F Substitution - Missense Skin COSM4856857 BTAF1 c.223G>A p.E75K Substitution - Missense Cervix COSM177163 JARID2 c.490C>T p.R164* Substitution - Nonsense Endometrium COSM3757702 BAZ2B c.6071G>A p.S2024N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5442012 FMR1 c.132T>A p.F44L Substitution - Missense Oesophagus COSM3589897 MECOM c.518C>T p.S173L Substitution - Missense Skin COSM234454 BRWD3 c.651A>T p.T217T Substitution - coding silent Skin COSM5715603 BRPF3 c.2489C>T p.S830F Substitution - Missense Skin COSM3807280 ERCC6 c.2645A>C p.Y882S Substitution - Missense Breast COSM4977894 DIDO1 c.2316G>C p.E772D Substitution - Missense Oesophagus COSM1311076 PRDM9 c.1886G>C p.R629T Substitution - Missense Thyroid COSM2210714 ASH1L c.3838C>T p.R1280* Substitution - Nonsense Skin COSM4791259 KDM1A c.1193A>G p.K398R Substitution - Missense Liver COSM1737144 CBX2 c.1402G>A p.D468N Substitution - Missense Central_nervous_system COSM110735 BAP1 c.1379C>G p.S460* Substitution - Nonsense Kidney COSM919450 JMJD1C c.6361C>A p.L2121I Substitution - Missense Endometrium COSM5825291 KMT2C c.11693C>A p.P3898Q Substitution - Missense Pancreas COSM4022231 POGZ c.3023G>A p.R1008Q Substitution - Missense Stomach COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM21711 CREBBP c.248A>C p.N83T Substitution - Missense Lung COSM28779 KDM6A c.2029C>T p.Q677* Substitution - Nonsense Cervix COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM49151 EZH2 c.1119_1120insC p.T374fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM79693 CREBBP c.4401G>C p.V1467V Substitution - coding silent Ovary COSM76701 TDRD6 c.2926T>C p.F976L Substitution - Missense Ovary COSM86993 IDH1 c.395_396GT>AC p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM162849 NCOR1 c.937C>T p.Q313* Substitution - Nonsense Breast COSM218772 DHX30 c.2003C>T p.P668L Substitution - Missense Pancreas COSM201010 ING1 c.586C>T p.R196* Substitution - Nonsense Stomach COSM233449 SMARCA4 c.4271C>T p.P1424L Substitution - Missense Skin COSM226648 TAF1L c.2662C>T p.R888C Substitution - Missense Skin COSM249465 SETD2 c.3409-2A>G p.? Unknown Kidney COSM252734 PRDM2 c.1519G>A p.E507K Substitution - Missense Ovary COSM271048 PRDM9 c.1383A>T p.K461N Substitution - Missense Large_intestine COSM268512 PHF8 c.1918C>T p.R640W Substitution - Missense Large_intestine COSM260969 FMR1 c.991G>A p.E331K Substitution - Missense Large_intestine COSM314413 PRDM9 c.2290C>T p.L764F Substitution - Missense Lung COSM331349 MBD4 c.1168_1169AG>TT p.R390>? Complex Lung COSM317302 EYA4 c.49A>T p.T17S Substitution - Missense Soft_tissue COSM359684 PHF20 c.759G>A p.L253L Substitution - coding silent Lung COSM446617 SETD2 c.227A>G p.N76S Substitution - Missense Breast COSM460546 CREBBP c.182C>T p.P61L Substitution - Missense Cervix COSM458125 BRWD3 c.1489C>T p.R497W Substitution - Missense Large_intestine COSM464483 ZMYM6 c.529A>G p.K177E Substitution - Missense Kidney COSM473727 SMCHD1 c.1744T>C p.S582P Substitution - Missense Kidney COSM471646 SRCAP c.9507A>G p.V3169V Substitution - coding silent Kidney COSM988954 MBD2 c.797A>C p.K266T Substitution - Missense Endometrium COSM985502 CHD3 c.4024C>T p.R1342W Substitution - Missense Endometrium COSM488224 SCML2 c.91G>C p.D31H Substitution - Missense Kidney COSM941780 BAZ2A_ENST00000379441 c.1657C>T p.R553C Substitution - Missense Endometrium COSM1023554 SMYD1 c.958C>T p.R320C Substitution - Missense Liver COSM939275 KDM5A c.2086C>T p.R696W Substitution - Missense Stomach COSM757655 ZMYM3 c.364G>A p.E122K Substitution - Missense Lung COSM920004 SFMBT2 c.2112G>A p.R704R Substitution - coding silent Endometrium COSM907682 ARID1A c.1274delA p.Q425fs*8 Deletion - Frameshift Endometrium COSM925905 PRMT3 c.952C>A p.L318I Substitution - Missense Endometrium COSM923576 KMT2A c.3455C>T p.S1152L Substitution - Missense Endometrium COSM1075356 ARID1B c.4945A>T p.T1649S Substitution - Missense Endometrium COSM1078019 DAXX c.1318G>A p.D440N Substitution - Missense Endometrium COSM1088189 HDAC9 c.2222G>C p.S741T Substitution - Missense Endometrium COSM1093575 TRRAP c.2004T>G p.L668L Substitution - coding silent Endometrium COSM1095773 ATAD2 c.585T>C p.R195R Substitution - coding silent Endometrium COSM1237938 SMARCA4 c.3230G>T p.R1077L Substitution - Missense Thyroid COSM1184899 BRD4 c.1680T>A p.N560K Substitution - Missense Oesophagus COSM1266216 SMARCA2 c.666A>G p.Q222Q Substitution - coding silent Prostate COSM1220386 PHF8 c.2318G>A p.R773H Substitution - Missense Large_intestine COSM1215196 KMT2D c.11509C>A p.L3837M Substitution - Missense Large_intestine COSM1214643 MBD5 c.990C>A p.H330Q Substitution - Missense Large_intestine COSM1186020 MBD5 c.664C>T p.P222S Substitution - Missense Lung COSM1328261 KDM3B c.5274G>A p.L1758L Substitution - coding silent Ovary COSM1322837 TDRD3 c.110C>T p.S37L Substitution - Missense Ovary COSM1427018 PHF17 c.2276G>A p.R759Q Substitution - Missense Large_intestine COSM1342906 KDM4A c.1699G>A p.A567T Substitution - Missense Large_intestine COSM1349251 TAF3 c.981G>A p.T327T Substitution - coding silent Large_intestine COSM1357569 TRIM66 c.1647_1648insG p.Q550fs*26 Insertion - Frameshift Large_intestine COSM1563161 GTF3C1 c.2048G>A p.G683D Substitution - Missense Large_intestine COSM1568251 PHIP c.4081A>G p.M1361V Substitution - Missense Large_intestine COSM1494088 CHD3 c.5117G>A p.R1706Q Substitution - Missense Kidney COSM1669834 SP100 c.194C>A p.S65* Substitution - Nonsense Large_intestine COSM1679022 SRCAP c.8306A>G p.Q2769R Substitution - Missense Large_intestine COSM2078415 PRDM16 c.1951G>T p.G651C Substitution - Missense Large_intestine COSM2078415 PRDM16 c.1951G>T p.G651C Substitution - Missense Large_intestine COSM2153367 AICDA c.232G>A p.V78I Substitution - Missense Central_nervous_system COSM2098420 CHD4 c.3909T>A p.I1303I Substitution - coding silent Upper_aerodigestive_tract COSM2270913 MGA c.7772C>T p.P2591L Substitution - Missense Skin COSM2848390 GABRG1 c.819C>T p.F273F Substitution - coding silent Skin COSM2961642 MYST3 c.5964C>T p.N1988N Substitution - coding silent Upper_aerodigestive_tract COSM3127162 PRMT10 c.2229C>T p.S743S Substitution - coding silent Large_intestine COSM3370867 BPTF c.1756G>C p.D586H Substitution - Missense Thyroid COSM3370887 PHF23 c.616C>G p.P206A Substitution - Missense Thyroid COSM3376181 EP400 c.2985C>T p.L995L Substitution - coding silent Pancreas COSM3487747 EYA3 c.1688C>T p.S563F Substitution - Missense Skin COSM3443959 KMT2A c.4396C>T p.P1466S Substitution - Missense Skin COSM3604087 GABRG1 c.838C>T p.P280S Substitution - Missense Skin COSM3546382 CHD6 c.367G>A p.E123K Substitution - Missense Skin COSM3537169 KDM4B c.817C>T p.P273S Substitution - Missense Skin COSM3661432 KDM3B c.3113T>G p.L1038R Substitution - Missense Liver COSM3716319 PHF2 c.1969G>T p.G657C Substitution - Missense Upper_aerodigestive_tract COSM3710969 CHD4 c.4058G>A p.R1353Q Substitution - Missense Upper_aerodigestive_tract COSM3750649 TDRD5 c.378G>C p.R126S Substitution - Missense Large_intestine COSM3750310 PRDM2 c.4824A>G p.S1608S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3808473 KMT2A c.1782A>C p.S594S Substitution - coding silent Breast COSM3792374 EP400 c.6120G>A p.P2040P Substitution - coding silent Biliary_tract COSM3844999 KDM5C c.3000C>T p.A1000A Substitution - coding silent Breast COSM3820845 CBX2 c.862C>T p.L288L Substitution - coding silent Breast COSM3899363 ELP3 c.1100+2T>C p.? Unknown Stomach COSM4044308 CHD4 c.4216C>T p.R1406C Substitution - Missense Stomach COSM4042361 KMT2D c.9836C>T p.A3279V Substitution - Missense Stomach COSM3985270 RERE c.460T>A p.S154T Substitution - Missense Kidney COSM4085880 BAZ2B c.5720G>A p.R1907H Substitution - Missense Stomach COSM4107282 FMR1 c.1685G>A p.R562H Substitution - Missense Stomach COSM4097549 ASXL1 c.1710G>A p.P570P Substitution - coding silent Stomach COSM4129609 NCOR1 c.568C>T p.R190* Substitution - Nonsense Upper_aerodigestive_tract COSM4129610 NCOR1 c.528C>T p.L176L Substitution - coding silent Thyroid COSM4134427 ASXL1 c.481C>A p.Q161K Substitution - Missense Thyroid COSM4385486 PHF6 c.61delA p.K21fs*12 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4384243 EZH2 c.2191T>A p.Y731N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4387477 EP300 c.4724_4759del36 p.N1575_A1586del Deletion - In frame Oesophagus COSM4401914 MGMT c.430C>T p.P144S Substitution - Missense Skin COSM4444529 CCDC101 c.736C>T p.R246C Substitution - Missense Large_intestine COSM4486288 PHF8 c.2925C>G p.P975P Substitution - coding silent Skin COSM4565139 ERCC6 c.1771_1772CC>TT p.P591L Substitution - Missense Skin COSM4538033 SETD1A c.2496G>A p.E832E Substitution - coding silent Skin COSM4591270 KMT2C c.2512G>A p.G838S Substitution - Missense Prostate COSM4592047 AKAP1 c.1597A>C p.T533P Substitution - Missense Upper_aerodigestive_tract COSM4592047 AKAP1 c.1597A>C p.T533P Substitution - Missense Upper_aerodigestive_tract COSM4721055 RERE c.447C>T p.D149D Substitution - coding silent Large_intestine COSM4732002 TAF3 c.2040T>A p.S680S Substitution - coding silent Large_intestine COSM4679193 DOT1L c.705G>A p.T235T Substitution - coding silent Large_intestine COSM4694940 KDM3B c.1873delC p.K627fs*60 Deletion - Frameshift Large_intestine COSM4703378 MSH6 c.2231A>T p.E744V Substitution - Missense Large_intestine COSM4701394 MECOM c.686delC p.T229fs*4 Deletion - Frameshift Large_intestine COSM4693864 JMJD6 c.748C>T p.P250S Substitution - Missense Large_intestine COSM4767768 SMARCB1 c.320A>G p.Y107C Substitution - Missense Biliary_tract COSM4627945 ATF2 c.656T>C p.L219S Substitution - Missense Large_intestine COSM4777698 NCOA2 c.541delG p.V181fs*1 Deletion - Frameshift Prostate COSM4778225 SETD5_ENST00000402198 c.2251A>G p.T751A Substitution - Missense Prostate COSM4799970 PRMT10 c.2462A>C p.Q821P Substitution - Missense Liver COSM4794577 BRD1 c.2516G>A p.G839D Substitution - Missense Liver COSM4917274 SMARCA2 c.1309A>G p.K437E Substitution - Missense Liver COSM4932366 PRDM16 c.251T>A p.F84Y Substitution - Missense Liver COSM4928766 SIRT4 c.51C>T p.I17I Substitution - coding silent Liver COSM4932954 PRDM16 c.791T>A p.L264Q Substitution - Missense Liver COSM4939389 ATAD2B_ENST00000238789 c.3607A>G p.M1203V Substitution - Missense Liver COSM4856274 TP53BP1 c.2635G>A p.A879T Substitution - Missense Cervix COSM4840266 ARID1A c.5975C>A p.S1992* Substitution - Nonsense Cervix COSM4848107 CHD4 c.1063+1G>A p.? Unknown Cervix COSM4953200 LBR c.843A>G p.V281V Substitution - coding silent Liver COSM4950448 CHD7 c.2666A>C p.D889A Substitution - Missense Liver COSM4946383 AP001011.3_ENST00000320876 c.5522A>C p.D1841A Substitution - Missense Liver COSM4991199 DNMT1 c.2341G>A p.A781T Substitution - Missense Skin COSM5036383 CHD6 c.6886G>A p.G2296R Substitution - Missense Oesophagus COSM5020527 EP300 c.1168+7G>C p.? Unknown Soft_tissue COSM5051642 KMT2D c.3145C>T p.R1049C Substitution - Missense Stomach COSM5055890 SIRT7 c.624C>T p.F208F Substitution - coding silent Stomach COSM5096636 SMEK2 c.1551T>C p.D517D Substitution - coding silent Large_intestine COSM5147938 CBX5 c.423A>G p.K141K Substitution - coding silent Large_intestine COSM5346389 NCOA2 c.4094G>A p.S1365N Substitution - Missense Urinary_tract COSM5404098 PRDM1 c.88C>T p.P30S Substitution - Missense Skin COSM5406605 TRIM24 c.632-1G>A p.? Unknown Skin COSM5407257 STK31 c.2690C>T p.P897L Substitution - Missense Skin COSM5477692 GLYATL1 c.475T>C p.S159P Substitution - Missense Large_intestine COSM5444798 TAF3 c.1744G>A p.E582K Substitution - Missense Oesophagus COSM5576195 DNMT3A c.2059G>A p.V687I Substitution - Missense Stomach COSM5643050 TCF20 c.489G>A p.G163G Substitution - coding silent Oesophagus COSM5580314 ATXN7 c.2150C>T p.S717F Substitution - Missense Skin COSM5660789 KMT2D c.820A>G p.K274E Substitution - Missense Soft_tissue COSM5563712 PRDM13 c.1266G>A p.Q422Q Substitution - coding silent Prostate COSM5554535 BAZ1B c.375G>C p.G125G Substitution - coding silent Prostate COSM5784785 EYA2 c.1569C>G p.H523Q Substitution - Missense Breast COSM5825379 MEN1 c.535G>T p.E179* Substitution - Nonsense Pancreas COSM5923364 PHF20 c.2111G>A p.R704K Substitution - Missense Skin COSM5902840 HDAC9 c.2450T>A p.I817K Substitution - Missense Skin COSM5916229 KDM5A c.1784G>A p.G595E Substitution - Missense Skin COSM5926700 TAF1L c.5161G>A p.E1721K Substitution - Missense Skin COSM5966171 PHRF1 c.3454G>T p.A1152S Substitution - Missense Adrenal_gland COSM6011943 KDM3B c.2344G>A p.D782N Substitution - Missense Skin COSM5999090 TAF3 c.61C>G p.L21V Substitution - Missense Prostate COSM5983474 GTF3C1 c.6228C>A p.D2076E Substitution - Missense Upper_aerodigestive_tract COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM256006 PHF6 c.? p.S193fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM957513 ARID2 c.1_5508del5508 p.0? Whole gene deletion Lung COSM219091 TET2 c.? p.S1494* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5347198 ARID1A c.?_?del? p.G2087fs*? Deletion - Frameshift Endometrium COSM5415916 TET2 c.? p.R1896M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4140201 DNMT1 c.3951C>T p.A1317A Substitution - coding silent Ovary COSM5611255 DOT1L c.4096_4097CC>AT p.P1366I Substitution - Missense Skin COSM5611461 BAP1 c.256-1G>T p.? Unknown Pleura COSM4495202 RTF1 c.73C>T p.P25S Substitution - Missense Skin COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM686089 BTAF1 c.4002G>A p.P1334P Substitution - coding silent Lung COSM3403702 DNMT1 c.2982C>T p.G994G Substitution - coding silent Central_nervous_system COSM3396517 MBD4 c.1311A>G p.K437K Substitution - coding silent Prostate COSM4383527 DNMT3A c.2569G>A p.D857N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5954530 ING3 c.1170C>T p.C390C Substitution - coding silent Upper_aerodigestive_tract COSM243222 BPTF c.5223T>A p.P1741P Substitution - coding silent Prostate COSM4487506 CBX8 c.319C>T p.P107S Substitution - Missense Skin COSM5666922 BRWD3 c.3442G>T p.E1148* Substitution - Nonsense Soft_tissue COSM5628715 ELP3 c.805G>C p.E269Q Substitution - Missense Oesophagus COSM4578070 UBR7 c.466G>A p.V156I Substitution - Missense Upper_aerodigestive_tract COSM96926 TET2 c.4854C>G p.Y1618* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM87011 DNMT3A c.2141C>G p.S714C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Soft_tissue COSM1443311 BAG6 c.1169_1170insC p.T391fs*29 Insertion - Frameshift Large_intestine COSM4170676 CHD8 c.3520T>A p.Y1174N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5594491 DHX30 c.2927_2929delACG p.H976_G977>R Complex - deletion inframe Skin COSM3589905 MECOM c.267-1G>A p.? Unknown Skin COSM3724078 UHRF2 c.2204G>T p.C735F Substitution - Missense Upper_aerodigestive_tract COSM4968462 NCOA2 c.3159-8C>G p.? Unknown Adrenal_gland COSM4611727 ARID4A c.2329_2330insA p.T779fs*5 Insertion - Frameshift Large_intestine COSM1470256 LBR c.1840A>G p.I614V Substitution - Missense Prostate COSM3017610 SHPRH c.2416A>G p.S806G Substitution - Missense Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM894490 TTF2 c.1887G>A p.T629T Substitution - coding silent Endometrium COSM131189 SRCAP c.2143C>T p.P715S Substitution - Missense Liver COSM3360636 SMYD2 c.266A>C p.E89A Substitution - Missense Kidney COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5731549 SMARCB1 c.628+2T>G p.? Unknown Central_nervous_system COSM3514706 SMYD4 c.712T>A p.C238S Substitution - Missense Skin COSM687400 RAG2 c.145G>C p.D49H Substitution - Missense Lung COSM4446970 PRMT8 c.76-3C>G p.? Unknown Skin COSM3720430 ZBTB33 c.110T>C p.I37T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM369181 WHSC1 c.108G>A p.P36P Substitution - coding silent Lung COSM1179107 KMT2C c.851G>A p.R284Q Substitution - Missense Large_intestine COSM5573336 PHF2 c.2833-1G>T p.? Unknown Prostate COSM3917051 PRDM5 c.247C>T p.R83C Substitution - Missense Cervix COSM311820 HNF1A c.980C>T p.T327I Substitution - Missense Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM211634 TET2 c.5713A>G p.K1905E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1123029 SMC1A c.2368C>T p.R790W Substitution - Missense Endometrium COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM1745900 KAT6B c.5010G>A p.L1670L Substitution - coding silent Urinary_tract COSM221079 KMT2D c.3316_3317delAT p.M1106fs*52 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5970023 KMT2A c.3907C>G p.L1303V Substitution - Missense Upper_aerodigestive_tract COSM221585 TET2 c.1326_1327delCA p.T443fs*11 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3706558 MGA c.4435-3C>T p.? Unknown Liver COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM1218898 ORC1 c.1553T>C p.V518A Substitution - Missense Large_intestine COSM5809913 WHSC1 c.519A>C p.I173I Substitution - coding silent Liver COSM3666446 PHRF1 c.706G>T p.V236F Substitution - Missense Liver COSM5574303 ASXL1 c.? p.Q768* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM948227 TDRD3 c.506G>A p.R169Q Substitution - Missense Large_intestine COSM4540267 HDAC4 c.2812G>A p.G938S Substitution - Missense Skin COSM3578864 SP110 c.953T>C p.V318A Substitution - Missense Skin COSM5963220 ARID1A c.4221A>T p.P1407P Substitution - coding silent Breast COSM76530 SMC1A c.1877G>A p.R626H Substitution - Missense Ovary COSM3742794 BRD4 c.1351G>A p.E451K Substitution - Missense Liver COSM4465350 GTF3C1 c.1379C>T p.S460F Substitution - Missense Skin COSM1336717 TDRD5 c.1927G>A p.E643K Substitution - Missense Skin COSM4002744 PBRM1 c.4335A>G p.P1445P Substitution - coding silent Soft_tissue COSM5476726 PHF14 c.506C>T p.T169M Substitution - Missense Large_intestine COSM362826 ARID1A c.5999A>T p.E2000V Substitution - Missense Lung COSM4778200 PHF14 c.463A>C p.T155P Substitution - Missense Prostate COSM5975877 ARID1B c.3663A>G p.P1221P Substitution - coding silent Upper_aerodigestive_tract COSM22630 MEN1 c.?_?del? p.?fs Deletion - Frameshift Pancreas COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Prostate COSM3750192 PHF2 c.2964G>T p.P988P Substitution - coding silent Large_intestine COSM21740 SMARCA1 c.1815+1G>A p.? Unknown Skin COSM3525468 ASXL3 c.2781C>T p.T927T Substitution - coding silent Skin COSM1746650 KDM4D c.760C>G p.L254V Substitution - Missense Urinary_tract COSM166346 DNMT3A c.? p.?fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM4949789 ARID1A c.1228G>A p.G410R Substitution - Missense Liver COSM4104557 TCF20 c.3064C>T p.R1022W Substitution - Missense Stomach COSM970125 MYST1 c.418C>T p.R140C Substitution - Missense Endometrium COSM919616 SIRT1 c.1558G>T p.E520* Substitution - Nonsense Endometrium COSM4162024 KMT2C c.946A>T p.T316S Substitution - Missense Thyroid COSM2221776 TRIM66 c.3073G>A p.D1025N Substitution - Missense Large_intestine COSM225605 ING3 c.503C>T p.S168F Substitution - Missense Skin COSM4795027 MTA1 c.631G>A p.D211N Substitution - Missense Liver COSM3970686 SMARCA4 c.2650C>A p.H884N Substitution - Missense Central_nervous_system COSM5388250 MBD2 c.1038G>A p.K346K Substitution - coding silent Skin COSM3954838 KMT2D c.9389A>T p.Q3130L Substitution - Missense Lung COSM972739 PRMT7 c.1545C>T p.A515A Substitution - coding silent Endometrium COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5020860 DOT1L c.2478C>T p.S826S Substitution - coding silent Soft_tissue COSM144510 TET2 c.3234_3235ins58 p.P1079fs*8 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4856607 NSD1 c.3439G>A p.E1147K Substitution - Missense Cervix COSM4427079 PHRF1 c.1469C>T p.A490V Substitution - Missense Bone COSM1333117 TTF2 c.2927G>A p.G976D Substitution - Missense Large_intestine COSM6013732 EHMT1 c.3448-10C>T p.? Unknown Skin COSM4186816 SMYD1 c.435G>C p.K145N Substitution - Missense Kidney COSM131032 ARID2 c.2438delC p.S813fs*9 Deletion - Frameshift Liver COSM903695 SMYD2 c.895C>T p.R299C Substitution - Missense Large_intestine COSM5351706 KDM6A c.3022G>T p.A1008S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM584258 BAP1 c.535C>T p.R179W Substitution - Missense Kidney COSM5439144 EP300 c.4076C>T p.A1359V Substitution - Missense Oesophagus COSM5944258 TET2 c.1266delA p.S424fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM920541 KAT6B c.6094C>T p.P2032S Substitution - Missense Endometrium COSM1184492 BAZ2B c.4150C>T p.R1384C Substitution - Missense Large_intestine COSM4466377 PRDM9 c.1430C>T p.S477F Substitution - Missense Skin COSM4952486 ASXL1 c.144-2A>G p.? Unknown Liver COSM4752320 TAF1L c.2672C>T p.T891M Substitution - Missense Stomach COSM5753271 SRCAP c.3467delC p.T1157fs*34 Deletion - Frameshift Pancreas COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM423160 PBRM1 c.4377_4378delTC p.P1460fs*48 Deletion - Frameshift Kidney COSM23013 MEN1 c.754_761delGACTCGCT p.D252fs*15 Deletion - Frameshift Parathyroid COSM4109558 KDM6A c.1961C>G p.P654R Substitution - Missense Stomach COSM1266218 SMARCA2 c.669G>A p.Q223Q Substitution - coding silent Ovary COSM2929532 TFPT c.223C>T p.R75W Substitution - Missense Oesophagus COSM1387264 KDM6B c.1531delC p.R513fs*69 Deletion - Frameshift Large_intestine COSM3816025 MGA c.383C>A p.S128Y Substitution - Missense Breast COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM238933 BAHCC1 c.2242G>A p.A748T Substitution - Missense Prostate COSM77463 CHD6 c.3272G>A p.R1091H Substitution - Missense Ovary COSM5764441 TP53BP1 c.2724G>T p.L908F Substitution - Missense Large_intestine COSM464489 ZMYM1 c.3256T>A p.S1086T Substitution - Missense Kidney COSM4797201 MORF4L1 c.518G>A p.R173Q Substitution - Missense Liver COSM3904790 PRDM12 c.300C>A p.L100L Substitution - coding silent Stomach COSM4073745 DNMT1 c.3701G>A p.R1234H Substitution - Missense Stomach COSM691762 HNF1A c.281C>A p.P94H Substitution - Missense Lung COSM346558 TDRD5 c.544G>T p.A182S Substitution - Missense Lung COSM52803 PBRM1 c.384+3A>T p.? Unknown Kidney COSM30242 MGA c.2355_2356delAA p.K785fs*3 Deletion - Frameshift Kidney COSM2890642 PRMT2 c.177C>T p.I59I Substitution - coding silent Skin COSM307377 ARID1A c.1508_1509insAAGGCCCCAGCGGGTATGGTCAACAGGGC p.P504fs*125 Insertion - Frameshift Kidney COSM4075946 GATAD2A c.1284C>T p.T428T Substitution - coding silent Stomach COSM3596183 PBRM1 c.3185G>A p.R1062Q Substitution - Missense Central_nervous_system COSM913368 MTF2 c.1045C>T p.R349C Substitution - Missense Endometrium COSM3738678 JMJD1C c.4013G>T p.R1338I Substitution - Missense Liver COSM926921 ALKBH3 c.760G>A p.D254N Substitution - Missense Endometrium COSM1075247 JARID2 c.1727C>T p.S576L Substitution - Missense Endometrium COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4061188 CHD9 c.245T>C p.V82A Substitution - Missense Stomach COSM1989222 MBD6 c.901_915del15 p.L301_G305delLGPLG Deletion - In frame Large_intestine COSM5607862 ARID1B c.6168G>A p.S2056S Substitution - coding silent Skin COSM3700713 ZMYM6 c.2919A>T p.K973N Substitution - Missense Liver COSM1341426 ARID1A c.5542delG p.D1850fs*33 Deletion - Frameshift Stomach COSM1569324 SMARCA2 c.1489C>T p.R497W Substitution - Missense Stomach COSM427630 ERCC6 c.4238A>G p.Q1413R Substitution - Missense Soft_tissue COSM934225 HCFC2 c.1284+2T>C p.? Unknown Endometrium COSM110772 TET2 c.4474G>T p.E1492* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM51200 ASXL1 c.1888_1910del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4937719 KIAA2026_ENST00000399933 c.2971T>C p.L991L Substitution - coding silent Liver COSM235065 NSD1 c.6795C>T p.S2265S Substitution - coding silent Skin COSM4789742 PRMT2 c.406C>G p.L136V Substitution - Missense Liver COSM3519935 AKAP1 c.1408C>T p.P470S Substitution - Missense Skin COSM332939 PRDM5 c.770G>T p.R257L Substitution - Missense Lung COSM751035 CHD7 c.7896C>T p.N2632N Substitution - coding silent Lung COSM444024 ADNP c.3087G>C p.K1029N Substitution - Missense Breast COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3366844 EZH2 c.1633C>T p.Q545* Substitution - Nonsense Kidney COSM4974377 SETD2 c.2834C>T p.S945F Substitution - Missense Oesophagus COSM254551 ARID1A c.1897C>T p.Q633* Substitution - Nonsense Urinary_tract COSM1581867 TRRAP c.2715G>T p.M905I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4042328 KMT2D c.15061G>A p.E5021K Substitution - Missense Stomach COSM4605276 NSD1 c.3921+2T>C p.? Unknown Upper_aerodigestive_tract COSM4641210 SETD2 c.5063C>T p.T1688I Substitution - Missense Large_intestine COSM391230 HDAC9 c.2383delT p.F795fs*14 Deletion - Frameshift Lung COSM217018 ARID2 c.2134G>T p.E712* Substitution - Nonsense Liver COSM6008652 L3MBTL2 c.1223G>T p.C408F Substitution - Missense Prostate COSM5719423 TDRD5 c.2007C>T p.F669F Substitution - coding silent Skin COSM248492 ZMYND8 c.1173C>T p.P391P Substitution - coding silent Prostate COSM6001453 YY1 c.745C>T p.P249S Substitution - Missense Prostate COSM5878955 TET2 c.1659_1660insC p.T556fs*11 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM347798 SIRT3 c.1080G>T p.V360V Substitution - coding silent Lung COSM182711 KDM5D c.341G>A p.S114N Substitution - Missense Large_intestine COSM4940605 SETD2 c.1175T>C p.L392P Substitution - Missense Liver COSM1302079 SETD6 c.1114G>A p.E372K Substitution - Missense Urinary_tract COSM1383594 HDAC5 c.2793delC p.I932fs*14 Deletion - Frameshift Large_intestine COSM4713994 PHF21A c.1600C>T p.R534* Substitution - Nonsense Pancreas COSM1017644 SP100 c.544C>T p.R182* Substitution - Nonsense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3528396 CARM1 c.1388C>T p.S463F Substitution - Missense Skin COSM4593173 CBX4 c.691A>C p.N231H Substitution - Missense Upper_aerodigestive_tract COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5380672 PRDM16 c.2692-1G>A p.? Unknown Skin COSM5674582 MLL5 c.379C>G p.H127D Substitution - Missense Soft_tissue COSM43508 TET2 c.961C>T p.Q321* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5036337 DNMT3B c.1909G>C p.E637Q Substitution - Missense Oesophagus COSM3420982 CREBBP c.1990G>T p.E664* Substitution - Nonsense Large_intestine COSM1026114 NCOA6 c.319C>T p.R107W Substitution - Missense Endometrium COSM3652172 TDRD7 c.3121C>G p.R1041G Substitution - Missense Skin COSM71284 KDM5C c.2735G>A p.G912E Substitution - Missense Ovary COSM4791015 ATF7IP c.517G>T p.D173Y Substitution - Missense Liver COSM3349519 RING1 c.998G>A p.G333D Substitution - Missense Large_intestine COSM1179669 KMT2C c.943G>A p.G315S Substitution - Missense Central_nervous_system COSM3724469 ARID1A c.4098G>A p.Q1366Q Substitution - coding silent Large_intestine COSM1739318 STK31 c.1713+1G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5721663 TRIM66 c.3380C>T p.S1127F Substitution - Missense Skin COSM4603617 EZH2 c.?_?ins? p.F728fs*? Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM377081 ATRX c.6892C>T p.P2298S Substitution - Missense Lung COSM255015 KDM6A c.378C>G p.Y126* Substitution - Nonsense Urinary_tract COSM3640349 BAZ1B c.1291C>T p.P431S Substitution - Missense Skin COSM5430448 DAXX c.1112G>A p.R371Q Substitution - Missense Oesophagus COSM1732016 PBRM1 c.2466delT p.F822fs*3 Deletion - Frameshift Kidney COSM1424600 SFMBT1 c.6C>T p.N2N Substitution - coding silent Large_intestine COSM4667488 C20orf20 c.565G>A p.A189T Substitution - Missense Large_intestine COSM4796011 SMARCA2 c.3780G>A p.R1260R Substitution - coding silent Liver COSM993 SMARCB1 c.601C>T p.R201* Substitution - Nonsense Central_nervous_system COSM4884330 UHRF2 c.79G>A p.E27K Substitution - Missense Upper_aerodigestive_tract COSM4387031 BAZ1B c.3854G>A p.R1285Q Substitution - Missense Lung COSM3751836 ERCC6 c.3637A>G p.R1213G Substitution - Missense Soft_tissue COSM3203677 MECOM c.922C>T p.P308S Substitution - Missense Skin COSM750811 PRDM14 c.655C>T p.L219L Substitution - coding silent Lung COSM753647 TAF1L c.4867A>G p.I1623V Substitution - Missense Lung COSM969916 SRCAP c.571C>T p.L191L Substitution - coding silent Endometrium COSM1087056 EZH2 c.721A>C p.K241Q Substitution - Missense Endometrium COSM1586686 CHD4 c.1040G>A p.R347Q Substitution - Missense Endometrium COSM4989484 KDM3B c.3622A>G p.I1208V Substitution - Missense Soft_tissue COSM3602804 WHSC1 c.215C>T p.P72L Substitution - Missense Skin COSM4931806 PCGF2 c.843C>A p.T281T Substitution - coding silent Liver COSM4542486 TET2 c.3195G>C p.L1065F Substitution - Missense Skin COSM3924313 TRRAP c.5139C>T p.F1713F Substitution - coding silent Skin COSM110791 TET2 c.3824G>A p.G1275E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5890072 CHD1 c.5068C>T p.P1690S Substitution - Missense Skin COSM52999 EZH2 c.2187_2188insT p.D730fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3712444 ZBTB4 c.580G>A p.A194T Substitution - Missense Upper_aerodigestive_tract COSM322940 PYGO1 c.1247G>A p.G416D Substitution - Missense Lung COSM221582 DNMT3A c.2678G>C p.W893S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5898333 JHDM1D c.2180C>T p.S727L Substitution - Missense Skin COSM5878841 DNMT3A c.1430-3C>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1035239 BRD1 c.1939G>A p.V647M Substitution - Missense Endometrium COSM3659711 PHF2 c.388C>T p.P130S Substitution - Missense Skin COSM4485006 DNMT1 c.2835C>T p.A945A Substitution - coding silent Skin COSM133038 EZH2 c.2035G>A p.V679M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5714324 PRDM10 c.2669T>C p.V890A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3523234 CBX8 c.1116C>T p.T372T Substitution - coding silent Skin COSM3869124 RAG2 c.1506G>A p.M502I Substitution - Missense Skin COSM4474080 SMARCC1 c.1893C>T p.L631L Substitution - coding silent Skin COSM3735018 SMARCA4 c.561C>G p.Y187* Substitution - Nonsense Ovary COSM5651204 L3MBTL2 c.336_337insT p.S113fs*18 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM398477 SETD1A c.4347G>T p.R1449R Substitution - coding silent Lung COSM21487 HNF1A c.526+1G>A p.? Unknown Liver COSM339753 ASXL1 c.3598C>T p.P1200S Substitution - Missense Skin COSM5973646 SP110 c.32C>A p.A11D Substitution - Missense Upper_aerodigestive_tract COSM2158569 JMJD1C c.1043G>T p.S348I Substitution - Missense Large_intestine COSM5485345 KDM5C c.2783C>T p.A928V Substitution - Missense Biliary_tract COSM353435 BAG6 c.903G>T p.T301T Substitution - coding silent Lung COSM4061231 FTO c.1391T>A p.L464* Substitution - Nonsense Stomach COSM2029928 CHD8 c.6727C>T p.R2243C Substitution - Missense Large_intestine COSM3464383 CHD4 c.2528T>C p.V843A Substitution - Missense Skin COSM4725201 SETDB1 c.1784G>A p.R595Q Substitution - Missense Large_intestine COSM5596312 ASXL3 c.2059G>A p.A687T Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5005952 EZH2 c.1596G>A p.R532R Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1075238 JARID2 c.515G>T p.S172I Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1127789 ALKBH3 c.684C>G p.D228E Substitution - Missense Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3838806 SP140_ENST00000392045 c.1812G>T p.K604N Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5900366 MBD1 c.340G>A p.D114N Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5600455 SETD2 c.3866G>A p.S1289N Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4909469 KDM5D c.556A>G p.K186E Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2844361 SETD4 c.669G>A p.P223P Substitution - coding silent Stomach COSM3669422 HDAC3 c.489G>A p.R163R Substitution - coding silent Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3142291 CHD1 c.2058T>C p.L686L Substitution - coding silent Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM908676 ZMYM4 c.2002C>T p.R668C Substitution - Missense Endometrium COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM896949 ASH1L c.417A>G p.K139K Substitution - coding silent Endometrium COSM941783 BAZ2A_ENST00000379441 c.1366G>A p.A456T Substitution - Missense Liver COSM4929790 SUV420H1 c.299T>G p.M100R Substitution - Missense Liver COSM5415729 KMT2D c.3791delT p.L1264fs*25 Deletion - Frameshift Prostate COSM30752 MEN1 c.734delC p.P245fs*36 Deletion - Frameshift Pancreas COSM3795662 HDAC5 c.263A>T p.Q88L Substitution - Missense Urinary_tract COSM4069631 ZBTB4 c.773G>A p.R258Q Substitution - Missense Stomach COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM4635435 PHIP c.1613T>C p.L538P Substitution - Missense Large_intestine COSM426006 ARID1A c.2542C>T p.P848S Substitution - Missense Breast COSM438515 SMARCA4 c.254C>T p.S85L Substitution - Missense Upper_aerodigestive_tract COSM4958128 SMARCA4 c.1251C>T p.R417R Substitution - coding silent Liver COSM753636 TAF1L c.3403C>G p.Q1135E Substitution - Missense Lung COSM3848332 TAF1L c.3533C>T p.S1178F Substitution - Missense Breast COSM3843331 MSL3 c.394T>C p.S132P Substitution - Missense Breast COSM87968 SMC1A c.1295A>C p.Q432P Substitution - Missense Central_nervous_system COSM5719080 NCOA2 c.4384-2A>G p.? Unknown Skin COSM1169634 PBRM1 c.? p.? Unknown Kidney COSM5719080 NCOA2 c.4384-2A>G p.? Unknown Skin COSM4411954 KDM6A c.3434-1G>A p.? Unknown Urinary_tract COSM219133 DNMT3A c.2245C>T p.R749C Substitution - Missense Skin COSM2802758 CBX2 c.651C>T p.H217H Substitution - coding silent Prostate COSM3726511 TRRAP c.1445C>G p.A482G Substitution - Missense Lung COSM2759359 PHF20 c.1950C>T p.F650F Substitution - coding silent Skin COSM338875 ASH2L c.682-1G>T p.? Unknown Lung COSM26904 SMARCA4 c.1419+5G>T p.? Unknown Pancreas COSM1704821 PRDM10 c.2797C>T p.Q933* Substitution - Nonsense Skin COSM4383835 TET2 c.2207C>G p.S736* Substitution - Nonsense Cervix COSM181348 PRDM2 c.846A>T p.E282D Substitution - Missense Large_intestine COSM3672554 PHF23 c.497C>A p.P166H Substitution - Missense Prostate COSM27394 HNF1A c.465G>T p.K155N Substitution - Missense Endometrium COSM22646 MEN1 c.322C>T p.R108* Substitution - Nonsense Parathyroid COSM22608 MEN1 c.292C>T p.R98* Substitution - Nonsense Gastrointestinal_tract_(site_indeterminate) COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28795 KDM6A c.975-1G>T p.? Unknown Kidney COSM53276 TET2 c.2198_2199insT p.Q734fs*20 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM83884 ARID1A c.3826C>T p.R1276* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM53016 EZH2 c.763G>A p.A255T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM78094 KMT2D c.12418G>T p.A4140S Substitution - Missense Ovary COSM95400 TRIM28 c.252G>C p.L84F Substitution - Missense Ovary COSM110803 BAP1 c.1497_1497delC p.I499fs*72 Deletion - Frameshift Pleura COSM145233 CHD2 c.3438T>G p.F1146L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM211702 TET2 c.3176C>G p.S1059* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM222542 TRIM33 c.847C>T p.Q283* Substitution - Nonsense Skin COSM220389 BRD4 c.2008T>C p.Y670H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM247460 SMARCA2 c.495C>T p.S165S Substitution - coding silent Prostate COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Bone COSM267250 PRDM11 c.501C>T p.N167N Substitution - coding silent Large_intestine COSM254816 KMT2C c.5287C>T p.Q1763* Substitution - Nonsense Urinary_tract COSM255131 MEN1 c.628_631delACAG p.T210fs*13 Deletion - Frameshift Parathyroid COSM261994 MGA c.2105G>T p.R702I Substitution - Missense Large_intestine COSM257479 MYST2 c.515G>A p.R172H Substitution - Missense Large_intestine COSM282822 MLL5 c.3494G>T p.R1165I Substitution - Missense Large_intestine COSM298325 ARID1A c.3978_3980delGCA p.Q1334delQ Deletion - In frame Large_intestine COSM297202 PRDM2 c.4459delA p.V1490fs*74 Deletion - Frameshift Large_intestine COSM297202 PRDM2 c.4459delA p.V1490fs*74 Deletion - Frameshift Stomach COSM326931 ZMYM4 c.2518A>T p.N840Y Substitution - Missense Lung COSM378381 MINA c.29G>T p.S10I Substitution - Missense Lung COSM400848 ASH1L c.2899G>T p.D967Y Substitution - Missense Lung COSM399954 PBRM1 c.3347C>G p.S1116* Substitution - Nonsense Lung COSM395238 SP140_ENST00000392045 c.665-1G>T p.? Unknown Lung COSM416130 MBD6 c.1570G>A p.E524K Substitution - Missense Urinary_tract COSM433839 MGA c.8414A>G p.Y2805C Substitution - Missense Breast COSM690809 ACTR6 c.1150G>A p.E384K Substitution - Missense Lung COSM683951 PWWP2B c.1577C>T p.A526V Substitution - Missense Large_intestine COSM1023500 KDM3A c.2533A>C p.I845L Substitution - Missense Endometrium COSM1026071 NCOA6 c.4352T>C p.M1451T Substitution - Missense Endometrium COSM753322 GTF3C4 c.1527G>C p.Q509H Substitution - Missense Lung COSM919495 JMJD1C c.2147C>T p.P716L Substitution - Missense Endometrium COSM707544 BPTF c.2282G>A p.G761E Substitution - Missense Lung COSM930223 MEN1 c.287A>C p.Q96P Substitution - Missense Endometrium COSM929396 PHRF1 c.4237G>A p.A1413T Substitution - Missense Endometrium COSM989555 L3MBTL4 c.461-1G>T p.? Unknown Endometrium COSM1045501 SETD2 c.406G>A p.E136K Substitution - Missense Endometrium COSM1067095 PRDM9 c.2516G>A p.R839Q Substitution - Missense Endometrium COSM1109427 KIAA2026_ENST00000399933 c.5906C>A p.S1969Y Substitution - Missense Endometrium COSM1083670 MLL5 c.970A>C p.N324H Substitution - Missense Endometrium COSM1238325 BRPF1 c.3187C>T p.R1063C Substitution - Missense Oesophagus COSM1163731 ADNP c.3047delA p.K1016fs*11 Deletion - Frameshift Large_intestine COSM1197183 CHD6 c.268A>G p.T90A Substitution - Missense Lung COSM1159121 SETBP1 c.3973_3981delAGTTCTTAT p.S1325_YdelSSY Deletion - In frame Pancreas COSM1172530 CBX2 c.1219G>A p.D407N Substitution - Missense Oesophagus COSM1173303 KMT2C c.10741A>T p.S3581C Substitution - Missense Oesophagus COSM1309204 DHX30 c.1018G>T p.E340* Substitution - Nonsense Urinary_tract COSM1311838 KDM1B c.1233G>A p.L411L Substitution - coding silent Urinary_tract COSM1297353 JMJD1C c.2422C>T p.Q808* Substitution - Nonsense Urinary_tract COSM1284412 DAXX c.1927C>T p.P643S Substitution - Missense Autonomic_ganglia COSM1330631 EHMT1 c.3045G>C p.V1015V Substitution - coding silent Ovary COSM1383305 KAT2A c.1598G>A p.R533H Substitution - Missense Large_intestine COSM1427319 SMARCA5 c.520+2T>C p.? Unknown Large_intestine COSM1409594 PCGF1 c.64G>T p.V22F Substitution - Missense Large_intestine COSM1411730 ACTR5 c.1134G>A p.A378A Substitution - coding silent Large_intestine COSM1353724 RAG2 c.1029C>A p.F343L Substitution - Missense Large_intestine COSM1481993 MBD5 c.3374C>T p.A1125V Substitution - Missense Breast COSM1610667 BPTF c.6530G>C p.G2177A Substitution - Missense Liver COSM1612208 SIRT2 c.226+8C>T p.? Unknown Liver COSM1614883 MSH6 c.1629A>G p.K543K Substitution - coding silent Liver COSM1617221 TBL1XR1 c.585A>G p.I195M Substitution - Missense Liver COSM1676676 ING4 c.695C>A p.P232H Substitution - Missense Large_intestine COSM1697961 L3MBTL3 c.2024C>T p.S675F Substitution - Missense Skin COSM1706466 EP400 c.3719C>T p.S1240F Substitution - Missense Skin COSM1716663 ATRX c.2422C>T p.R808* Substitution - Nonsense Central_nervous_system COSM1711825 SMARCA4 c.2260C>T p.L754F Substitution - Missense Skin COSM1714018 PRDM15 c.2842A>T p.I948F Substitution - Missense Skin COSM1717326 ALKBH3 c.552G>C p.E184D Substitution - Missense Ovary COSM2235544 ARID1A c.5560C>T p.H1854Y Substitution - Missense Large_intestine COSM2879326 CXXC1 c.887C>T p.A296V Substitution - Missense Large_intestine COSM2965351 KDM6A c.1780G>T p.G594C Substitution - Missense Endometrium COSM3203708 MECOM c.612C>T p.C204C Substitution - coding silent Upper_aerodigestive_tract COSM3384093 HNF1A c.854C>T p.T285M Substitution - Missense Breast COSM3590427 ACTL6A c.450C>T p.F150F Substitution - coding silent Skin COSM3580215 NCOA1 c.1163C>T p.P388L Substitution - Missense Skin COSM3554482 CBX7 c.629C>T p.P210L Substitution - Missense Skin COSM3555042 TCF20 c.5527C>T p.P1843S Substitution - Missense Skin COSM3519939 AKAP1 c.1660G>A p.D554N Substitution - Missense Skin COSM3662941 TIF1 c.1777-2A>T p.? Unknown Liver COSM3662598 TDRD6 c.2792A>G p.N931S Substitution - Missense Liver COSM3694442 MECP2 c.1330G>A p.A444T Substitution - Missense Large_intestine COSM3717443 MYST2 c.179G>T p.R60L Substitution - Missense Liver COSM3722549 KMT2D c.3022G>T p.G1008* Substitution - Nonsense Upper_aerodigestive_tract COSM3723842 TET2 c.5203G>A p.G1735R Substitution - Missense Upper_aerodigestive_tract COSM3712648 AP001011.3_ENST00000320876 c.4178G>T p.S1393I Substitution - Missense Upper_aerodigestive_tract COSM3760036 ZCWPW2 c.651G>A p.K217K Substitution - coding silent Thyroid COSM3772693 BAZ2A_ENST00000379441 c.1336T>C p.S446P Substitution - Missense Pancreas COSM3783607 PHF16 c.673G>A p.V225I Substitution - Missense Stomach COSM3792592 KDM5A c.1583C>G p.S528C Substitution - Missense Urinary_tract COSM3869126 RAG2 c.962A>G p.N321S Substitution - Missense Skin COSM3860675 KDM1B c.1546G>A p.D516N Substitution - Missense Stomach COSM3840820 NCOA6 c.3909C>T p.H1303H Substitution - coding silent Breast COSM3820562 ZBTB4 c.2244C>T p.H748H Substitution - coding silent Breast COSM3926622 SMARCA2 c.4140C>T p.P1380P Substitution - coding silent Skin COSM3879573 KMT2C c.6196C>T p.R2066* Substitution - Nonsense Stomach COSM3964001 DNMT3L c.216C>T p.I72I Substitution - coding silent Lung COSM3980927 EP400 c.5767A>T p.S1923C Substitution - Missense Ovary COSM3983290 RAI1 c.5635C>A p.H1879N Substitution - Missense Ovary COSM4022229 POGZ c.3099G>A p.E1033E Substitution - coding silent Stomach COSM3985556 BMI1 c.756C>G p.D252E Substitution - Missense Kidney COSM4114047 ZBTB38 c.690A>C p.E230D Substitution - Missense Stomach COSM4110221 PHF8 c.1827C>T p.D609D Substitution - coding silent Stomach COSM4110887 TAF1 c.1850G>A p.R617H Substitution - Missense Large_intestine COSM4121654 PRDM5 c.1169T>A p.V390D Substitution - Missense Stomach COSM4139920 CBX4 c.1298T>C p.I433T Substitution - Missense Ovary COSM4144039 RAD54L c.895C>T p.H299Y Substitution - Missense Thyroid COSM4162014 KMT2C c.2534G>A p.G845E Substitution - Missense Upper_aerodigestive_tract COSM4162022 KMT2C c.1131A>T p.P377P Substitution - coding silent Thyroid COSM4156642 FMR1 c.357A>C p.K119N Substitution - Missense Upper_aerodigestive_tract COSM4170032 TET2 c.2245C>T p.Q749* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4383562 DNMT3A c.1640T>G p.L547R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4604564 NSD1 c.1828C>T p.Q610* Substitution - Nonsense Upper_aerodigestive_tract COSM4435528 KDM3B c.538G>T p.A180S Substitution - Missense Oesophagus COSM4526942 HNF1A c.142G>A p.E48K Substitution - Missense Skin COSM4425905 SND1 c.2395G>A p.A799T Substitution - Missense Oesophagus COSM4425061 KDM3B c.1273A>C p.T425P Substitution - Missense Oesophagus COSM4493454 CHD8 c.4159C>T p.L1387L Substitution - coding silent Skin COSM4538488 STK31 c.2558G>A p.G853E Substitution - Missense Skin COSM4592047 AKAP1 c.1597A>C p.T533P Substitution - Missense Upper_aerodigestive_tract COSM4490186 ARID1A c.3597C>T p.F1199F Substitution - coding silent Skin COSM4766061 SMARCB1 c.178_179delAG p.R60fs*10 Deletion - Frameshift Soft_tissue COSM4611655 HDAC2 c.33delA p.V12fs*20 Deletion - Frameshift Large_intestine COSM4611777 ADNP c.3047_3048insA p.A1017fs*6 Insertion - Frameshift Bone COSM4632419 SMARCD3 c.238G>C p.A80P Substitution - Missense Large_intestine COSM4752034 SRCAP c.9298G>A p.G3100R Substitution - Missense Stomach COSM4943270 EP300 c.7192G>A p.D2398N Substitution - Missense Breast COSM4905215 PRDM9 c.346C>T p.Q116* Substitution - Nonsense Skin COSM4935602 TAF1L c.5089A>G p.T1697A Substitution - Missense Liver COSM4943507 KDM6B c.3290A>T p.E1097V Substitution - Missense Liver COSM4850710 PHF16 c.2296G>A p.G766S Substitution - Missense Cervix COSM4827617 KIAA2026_ENST00000399933 c.2840T>C p.L947P Substitution - Missense Cervix COSM4829498 ARID2 c.3926C>G p.S1309* Substitution - Nonsense Upper_aerodigestive_tract COSM4822576 AIRE c.948G>T p.R316R Substitution - coding silent Cervix COSM4951716 SCML2 c.430T>G p.F144V Substitution - Missense Liver COSM4984989 HNF1A c.1460G>A p.S487N Substitution - Missense Soft_tissue COSM5024945 CHD1 c.3881A>C p.D1294A Substitution - Missense Breast COSM4970359 EHMT2 c.2424C>T p.G808G Substitution - coding silent Central_nervous_system COSM5019387 KMT2D c.10002_10022del21 p.Q3336_Q3342delQQQQQQQ Deletion - In frame Soft_tissue COSM5015280 MGA c.301G>A p.G101R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5016514 MYST1 c.985delG p.K330fs*41 Deletion - Frameshift Kidney COSM5057639 PRMT2 c.807C>T p.Y269Y Substitution - coding silent Stomach COSM5101420 ACTB c.363+2T>C p.? Unknown Large_intestine COSM5045256 RERE c.4486G>A p.G1496S Substitution - Missense Oesophagus COSM5392254 EYA2 c.490C>T p.P164S Substitution - Missense Skin COSM5625613 KMT2D c.12637_12638insG p.L4213fs*4 Insertion - Frameshift Oesophagus COSM5770802 NCOR1 c.395C>G p.P132R Substitution - Missense Breast COSM5719961 BRPF1 c.3146C>T p.T1049I Substitution - Missense Skin COSM5729915 TET2 c.3595G>A p.V1199M Substitution - Missense Skin COSM5599757 KDM3A c.1219C>T p.P407S Substitution - Missense Skin COSM5585431 HNF1A c.1395C>T p.S465S Substitution - coding silent Skin COSM5617203 SETD7 c.927C>T p.V309V Substitution - coding silent Lung COSM5608366 EP300 c.930C>T p.V310V Substitution - coding silent Skin COSM5689336 RERE c.365A>G p.Y122C Substitution - Missense Soft_tissue COSM5704094 PHRF1 c.1394G>A p.R465Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5551463 BRPF1 c.3251A>T p.D1084V Substitution - Missense Prostate COSM5560176 ARID4A c.2869T>A p.L957M Substitution - Missense Prostate COSM5558416 ARID4A c.3349C>T p.L1117L Substitution - coding silent Prostate COSM5563671 KAT2A c.1162C>T p.Q388* Substitution - Nonsense Prostate COSM5878500 ARID2 c.1120+5G>C p.? Unknown Liver COSM5802110 LBR c.330_343del14 p.R110fs*2 Deletion - Frameshift Breast COSM5811085 KDM1A c.1691A>G p.N564S Substitution - Missense Liver COSM5803183 MBD5 c.1525T>A p.S509T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5797725 RERE c.1226G>C p.R409T Substitution - Missense Breast COSM5912455 L3MBTL3 c.1465C>T p.P489S Substitution - Missense Skin COSM5890609 KMT2A c.5863C>T p.H1955Y Substitution - Missense Skin COSM5988960 SETD5_ENST00000402198 c.774G>T p.L258F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5990080 ASXL1 c.2127delC p.G710fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM6006762 KDM3A c.1936C>T p.H646Y Substitution - Missense Prostate COSM5971612 CHD2 c.1195C>T p.P399S Substitution - Missense Upper_aerodigestive_tract COSM27523 MSH6 c.? p.G932D Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM53144 TET2 c.? p.A707fs*9 Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52794 PBRM1 c.1455delA p.E486fs*14 Deletion - Frameshift Kidney COSM5347222 ARID1A c.?_?del? p.A1466fs*? Deletion - Frameshift Endometrium COSM5718770 ASXL3 c.1090G>A p.E364K Substitution - Missense Skin COSM972497 CTCF c.1584C>A p.C528* Substitution - Nonsense Endometrium COSM5367631 MECOM c.1536_1537insT p.P513fs*12 Insertion - Frameshift Large_intestine COSM1723605 KMT2D c.1498G>T p.E500* Substitution - Nonsense Skin COSM4969042 PRDM16 c.1715delC p.A572fs*20 Deletion - Frameshift Central_nervous_system COSM4972673 PHF10 c.371G>C p.S124T Substitution - Missense Oesophagus COSM123304 GABRG1 c.1044G>C p.L348F Substitution - Missense Upper_aerodigestive_tract COSM5759737 SRCAP c.2479A>G p.K827E Substitution - Missense Bone COSM3174041 EYA4 c.15G>A p.Q5Q Substitution - coding silent Skin COSM1716674 ATRX c.3133_3137delAAAAG p.K1045fs*1 Deletion - Frameshift Central_nervous_system COSM1236445 ING3 c.1154G>T p.W385L Substitution - Missense Autonomic_ganglia COSM1311579 EYA4 c.267T>A p.S89S Substitution - coding silent Urinary_tract COSM1610770 ZBTB4 c.454G>T p.G152C Substitution - Missense Liver COSM4893054 SHPRH c.2665C>T p.P889S Substitution - Missense Skin COSM485539 BAZ1B c.3100C>G p.L1034V Substitution - Missense Breast COSM4510858 SIRT4 c.84C>T p.S28S Substitution - coding silent Skin COSM4589639 HDAC1 c.839-2_839-1insG p.? Unknown Skin COSM5392256 EYA2 c.790G>A p.D264N Substitution - Missense Skin COSM43444 TET2 c.1354_1354delG p.E452fs*34 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM985860 BAHCC1 c.7069C>T p.L2357L Substitution - coding silent Endometrium COSM1061361 KDM3B c.4378C>T p.R1460W Substitution - Missense Endometrium COSM4614530 BRPF1 c.2806delC p.Q938fs*5 Deletion - Frameshift Large_intestine COSM3716168 SMARCA2 c.1989T>G p.D663E Substitution - Missense Upper_aerodigestive_tract COSM4666125 BRD8 c.2751G>A p.P917P Substitution - coding silent Large_intestine COSM4430175 PHF12 c.2923G>A p.D975N Substitution - Missense Oesophagus COSM3424961 ATRX c.2697G>A p.T899T Substitution - coding silent Large_intestine COSM4968570 PHC3 c.629C>T p.S210L Substitution - Missense Adrenal_gland COSM1351609 KMT2A c.2312delC p.P773fs*8 Deletion - Frameshift Large_intestine COSM230133 KMT2C c.1173C>A p.C391* Substitution - Nonsense Soft_tissue COSM4467576 KMT2A c.1498C>A p.P500T Substitution - Missense Skin COSM4410659 MYST2 c.326A>G p.D109G Substitution - Missense Kidney COSM4399886 MECOM c.1636C>A p.Q546K Substitution - Missense Skin COSM1027548 NCOA3 c.4016G>T p.R1339I Substitution - Missense Endometrium COSM12803 BRDT c.862C>T p.H288Y Substitution - Missense Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Biliary_tract COSM5368979 ATF7IP c.1108A>T p.K370* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1225433 SFMBT1 c.1937G>T p.R646I Substitution - Missense Large_intestine COSM5928354 SMYD1 c.110G>A p.R37Q Substitution - Missense Skin COSM4590120 KDM4B c.2128A>G p.K710E Substitution - Missense Upper_aerodigestive_tract COSM917512 ZMYND11 c.810C>A p.F270L Substitution - Missense Endometrium COSM4171368 BRD8 c.268G>A p.E90K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4100478 ZGPAT c.848C>T p.T283M Substitution - Missense Stomach COSM5616642 GATAD2B c.1698C>T p.P566P Substitution - coding silent Lung COSM1724665 TCF20 c.5320_5322delCAG p.Q1774delQ Deletion - In frame Skin COSM5762894 KMT2A c.3770G>T p.S1257I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4428763 VPS72 c.1007C>A p.A336D Substitution - Missense Oesophagus COSM988864 CXXC1 c.462T>A p.H154Q Substitution - Missense Endometrium COSM4951262 ARID2 c.4169_4170insT p.S1391fs*20 Insertion - Frameshift Liver COSM1324408 CHD9 c.2226C>G p.I742M Substitution - Missense Ovary COSM276728 PHF3 c.562T>C p.S188P Substitution - Missense Large_intestine COSM4137241 BRWD1 c.5106G>A p.V1702V Substitution - coding silent Ovary COSM757509 ATRX c.4834C>G p.L1612V Substitution - Missense Lung COSM3135584 LMNB1 c.636T>C p.Y212Y Substitution - coding silent Large_intestine COSM1188108 PHRF1 c.3154C>T p.R1052W Substitution - Missense Lung COSM1716585 BAP1 c.256-?_375+?del p.? Unknown Pleura COSM4643537 PRDM11 c.749G>A p.R250Q Substitution - Missense Large_intestine COSM333298 ASXL3 c.423G>T p.M141I Substitution - Missense Lung COSM5594957 NCOA3 c.1211C>T p.S404L Substitution - Missense Skin COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52868 PBRM1 c.2126_2127insA p.R710fs*13 Insertion - Frameshift Stomach COSM3845090 PHF8 c.466G>C p.E156Q Substitution - Missense Breast COSM41292 IDH1 c.? p.R132G Substitution - Missense Biliary_tract COSM422799 PBRM1 c.2779+1G>A p.? Unknown Kidney COSM1223041 RAI1 c.1603G>A p.A535T Substitution - Missense Large_intestine COSM455830 TAF1L c.1660C>G p.L554V Substitution - Missense Breast COSM1169361 ADNP c.2405C>T p.S802F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5448555 PHC1 c.2760A>G p.P920P Substitution - coding silent Large_intestine COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4014459 ERCC6 c.630C>T p.H210H Substitution - coding silent Stomach COSM314410 PRDM9 c.2138C>G p.T713R Substitution - Missense Large_intestine COSM3928343 EHMT2 c.3207G>A p.G1069G Substitution - coding silent Central_nervous_system COSM2175146 SIRT4 c.872G>A p.R291Q Substitution - Missense Large_intestine COSM1075354 ARID1B c.4571C>T p.T1524M Substitution - Missense Endometrium COSM3361051 BRDT c.719T>C p.V240A Substitution - Missense Kidney COSM5818501 SRCAP c.5503G>T p.V1835F Substitution - Missense Liver COSM5558484 AIRE c.366G>C p.L122F Substitution - Missense Prostate COSM87001 DNMT3A c.2644C>A p.R882S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4149840 ZCWPW2 c.328C>G p.P110A Substitution - Missense Ovary COSM1104690 PHF19 c.1453C>A p.L485M Substitution - Missense Endometrium COSM3398729 ARID2 c.4043A>T p.D1348V Substitution - Missense Central_nervous_system COSM280130 CREBBP c.4166T>C p.F1389S Substitution - Missense Large_intestine COSM255112 MEN1 c.230_230delA p.Y77fs*42 Deletion - Frameshift Parathyroid COSM4164840 BRWD1 c.3208+2T>A p.? Unknown Kidney COSM4652316 MBD6 c.2734C>A p.H912N Substitution - Missense Large_intestine COSM1364813 PHC1 c.2635G>T p.E879* Substitution - Nonsense Large_intestine COSM4134548 CHD6 c.5457T>C p.N1819N Substitution - coding silent Thyroid COSM235025 NCOA6 c.2904C>T p.N968N Substitution - coding silent Skin COSM3393996 HDGFL1 c.130G>A p.G44R Substitution - Missense Pancreas COSM3663039 KMT2C c.8391G>A p.K2797K Substitution - coding silent Liver COSM5108260 ACTL6B c.695_696insC p.N233fs*17 Insertion - Frameshift Breast COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3414025 SMARCA4 c.3493C>T p.L1165F Substitution - Missense Oesophagus COSM4849743 KMT2D c.3214G>C p.D1072H Substitution - Missense Cervix COSM290301 BRDT c.1107C>T p.F369F Substitution - coding silent Large_intestine COSM307572 TAF1L c.1765G>A p.D589N Substitution - Missense Skin COSM3863729 TDRD5 c.1184C>T p.S395L Substitution - Missense Skin COSM5016971 POLE3 c.428A>T p.E143V Substitution - Missense Kidney COSM5613010 DIDO1 c.4086G>T p.P1362P Substitution - coding silent Adrenal_gland COSM3717948 MBD2 c.493A>G p.I165V Substitution - Missense Liver COSM1255156 JARID2 c.1456A>T p.K486* Substitution - Nonsense Stomach COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3990638 MBD5 c.526A>G p.N176D Substitution - Missense Kidney COSM5813424 MINA c.48G>T p.P16P Substitution - coding silent Liver COSM5906208 HCFC1 c.3857C>T p.S1286F Substitution - Missense Skin COSM5901274 SETD5_ENST00000402198 c.2923C>T p.Q975* Substitution - Nonsense Skin COSM4131185 SMARCA4 c.1524T>C p.H508H Substitution - coding silent Soft_tissue COSM1570146 HDAC6 c.2076C>A p.G692G Substitution - coding silent Large_intestine COSM5656311 CREBBP c.4788delC p.N1596fs*39 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4995653 SRCAP c.1082delC p.R362fs*18 Deletion - Frameshift Upper_aerodigestive_tract COSM1622309 SND1 c.520C>T p.R174W Substitution - Missense Pancreas COSM1406128 SP100 c.1246G>A p.A416T Substitution - Missense Large_intestine COSM4800598 BAZ1A c.3297A>C p.P1099P Substitution - coding silent Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM452716 KMT2C c.4141A>G p.I1381V Substitution - Missense Breast COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2688102 NIPBL c.8217G>A p.W2739* Substitution - Nonsense Adrenal_gland COSM360444 CHD7 c.1072G>T p.G358C Substitution - Missense Lung COSM5621239 MEAF6 c.149A>T p.D50V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3775755 WHSC1 c.1743C>G p.L581L Substitution - coding silent Urinary_tract COSM87263 IKZF1 c.1-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM468076 ATF7IP c.2287G>C p.A763P Substitution - Missense Kidney COSM5782954 MLL5 c.139A>C p.T47P Substitution - Missense Breast COSM5574231 TET2 c.521C>A p.P174H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4717452 PRDM11 c.1188delG p.D398fs*54 Deletion - Frameshift Large_intestine COSM5055623 AKAP1 c.1693G>A p.A565T Substitution - Missense Stomach COSM1114775 SMARCA1 c.2673C>A p.S891S Substitution - coding silent Endometrium COSM3126275 SMARCA5 c.2607A>C p.A869A Substitution - coding silent Prostate COSM1158367 PRMT3 c.571C>T p.Q191* Substitution - Nonsense Pancreas COSM5782731 TAF3 c.403C>G p.Q135E Substitution - Missense Breast COSM5944117 ASXL1 c.1907C>T p.A636V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3650080 CHD7 c.5945G>A p.G1982E Substitution - Missense Skin COSM1328193 DHX30 c.2493delG p.A832fs*21 Deletion - Frameshift Ovary COSM897119 LMNA c.1184C>T p.S395L Substitution - Missense Endometrium COSM4476800 PRDM14 c.209C>T p.P70L Substitution - Missense Skin COSM1329959 SMARCD3 c.942G>T p.Q314H Substitution - Missense Ovary COSM1614670 DNMT3A c.1531G>T p.G511* Substitution - Nonsense Liver COSM679387 LBR c.1234G>T p.D412Y Substitution - Missense Lung COSM4070660 BAHCC1 c.7696C>T p.R2566C Substitution - Missense Stomach COSM2229055 EP400 c.1818G>A p.P606P Substitution - coding silent Breast COSM923587 KMT2A c.6562C>T p.R2188* Substitution - Nonsense Endometrium COSM4443092 ELP3 c.1549A>G p.K517E Substitution - Missense Large_intestine COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1087501 KMT2C c.14416C>T p.R4806* Substitution - Nonsense Upper_aerodigestive_tract COSM1159410 CREBBP c.1216G>C p.V406L Substitution - Missense Pancreas COSM4981007 HDAC9 c.2828T>A p.L943* Substitution - Nonsense Oesophagus COSM28815 KDM6A c.1_4206del4206 p.0? Whole gene deletion Breast COSM4495979 SETD1A c.4652C>T p.A1551V Substitution - Missense Skin COSM3615184 PRDM9 c.10G>A p.E4K Substitution - Missense Skin COSM3736847 BRD8 c.673G>T p.G225C Substitution - Missense Upper_aerodigestive_tract COSM2820557 DNMT3L c.740C>T p.P247L Substitution - Missense Skin COSM3599583 PRDM5 c.1691A>G p.K564R Substitution - Missense Skin COSM1494006 BPTF c.2341A>G p.R781G Substitution - Missense Kidney COSM4071710 SMCHD1 c.2722T>C p.Y908H Substitution - Missense Stomach COSM4930769 SIRT6 c.664A>T p.S222C Substitution - Missense Liver COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5672284 PRDM8 c.1834C>T p.L612L Substitution - coding silent Soft_tissue COSM322808 PRDM9 c.1377G>T p.R459S Substitution - Missense Lung COSM1377534 SETD1A c.3141C>G p.S1047S Substitution - coding silent Prostate COSM4167284 TET2 c.? p.H1893Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM415994 KDM2B c.1161C>G p.L387L Substitution - coding silent Urinary_tract COSM1470852 GTF3C1 c.2493G>A p.T831T Substitution - coding silent Prostate COSM1684722 SETBP1 c.2608G>C p.G870R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1123269 PHF8 c.2083C>T p.L695F Substitution - Missense Endometrium COSM935906 SIRT4 c.843G>A p.P281P Substitution - coding silent Endometrium COSM954449 CHD8 c.1757C>A p.T586K Substitution - Missense Endometrium COSM3939502 BRWD1 c.717G>A p.E239E Substitution - coding silent Oesophagus COSM1181044 KMT2C c.13488delT p.F4496fs*21 Deletion - Frameshift Large_intestine COSM1717192 BAHD1 c.1958G>T p.W653L Substitution - Missense Ovary COSM2153781 KMT2C c.12898T>G p.S4300A Substitution - Missense Central_nervous_system COSM5455463 ARID1B c.4349G>A p.R1450H Substitution - Missense Large_intestine COSM97940 SETBP1 c.2843G>A p.R948H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1131647 KMT2C c.2755G>C p.V919L Substitution - Missense Soft_tissue COSM1733132 EP400 c.6650C>T p.P2217L Substitution - Missense Pancreas COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5925951 SUZ12 c.1917T>A p.F639L Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM438076 ASXL3 c.2074G>A p.D692N Substitution - Missense Breast COSM3517750 EZH1 c.1675C>T p.P559S Substitution - Missense Skin COSM3589879 MECOM c.1183G>A p.D395N Substitution - Missense Skin COSM277022 RBBP7 c.820G>A p.E274K Substitution - Missense Large_intestine COSM3790057 KDM4A c.1396G>C p.E466Q Substitution - Missense Urinary_tract COSM3795986 BPTF c.4474G>A p.D1492N Substitution - Missense Urinary_tract COSM5001972 LBR c.562G>A p.V188I Substitution - Missense Pancreas COSM1107696 SMARCA2 c.1132G>T p.V378L Substitution - Missense Stomach COSM3636451 KMT2C c.14185T>G p.L4729V Substitution - Missense Skin COSM53145 TET2 c.? p.L1360R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1130817 DNMT3A c.336C>T p.G112G Substitution - coding silent Prostate COSM1673057 STK31 c.1688G>C p.C563S Substitution - Missense Prostate COSM4141005 DNMT3A c.192C>T p.D64D Substitution - coding silent Ovary COSM13343 MSH6 c.2425delG p.V809fs*1 Deletion - Frameshift Central_nervous_system COSM4020107 PRMT6 c.236G>T p.G79V Substitution - Missense Stomach COSM3398540 EP400 c.3095T>G p.L1032R Substitution - Missense Central_nervous_system COSM4117703 SETMAR c.47A>G p.E16G Substitution - Missense Stomach COSM3738480 TET2 c.? p.M804fs*9 Frameshift Haematopoietic_and_lymphoid_tissue COSM3488869 ZMYM1 c.1112C>T p.S371F Substitution - Missense Skin COSM430523 HNF1A c.360G>T p.K120N Substitution - Missense Breast COSM5752198 KMT2C c.5422_5423delAG p.P1809fs*18 Deletion - Frameshift Breast COSM941549 SMARCC2 c.2839C>T p.R947W Substitution - Missense Endometrium COSM1579311 MYST2 c.1517C>T p.S506F Substitution - Missense Fallopian_tube COSM110492 SMARCA4 c.2300C>T p.S767F Substitution - Missense Central_nervous_system COSM4603421 CREBBP c.586_587insT p.S196fs*4 Insertion - Frameshift Upper_aerodigestive_tract COSM1315841 ASXL1 c.2577_2577delC p.N859fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3738229 SP110 c.1880C>A p.P627Q Substitution - Missense Soft_tissue COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Biliary_tract COSM2006615 KMT2D c.14850C>T p.R4950R Substitution - coding silent Large_intestine COSM4984100 EP300 c.512C>T p.A171V Substitution - Missense Oesophagus COSM1627593 SFMBT2 c.2493G>A p.R831R Substitution - coding silent Liver COSM1440583 EYA4 c.903T>C p.D301D Substitution - coding silent Large_intestine COSM77521 CREBBP c.4135T>G p.F1379V Substitution - Missense Ovary COSM405183 PRDM12 c.570+1_570+2delGT p.? Unknown Stomach COSM164294 SFMBT2 c.1849C>G p.R617G Substitution - Missense Breast COSM5388046 ASXL3 c.2128C>T p.P710S Substitution - Missense Skin COSM4767796 EP300 c.3183T>A p.T1061T Substitution - coding silent Biliary_tract COSM3369724 ZMYM1 c.2447T>A p.L816* Substitution - Nonsense Thyroid COSM4403325 EP400 c.1686C>T p.P562P Substitution - coding silent Skin COSM5024830 MORF4L1 c.284G>T p.W95L Substitution - Missense Large_intestine COSM5620487 CHD8 c.7198A>G p.T2400A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5019889 SETBP1 c.3388C>A p.P1130T Substitution - Missense Soft_tissue COSM5671634 BAHD1 c.358G>A p.A120T Substitution - Missense Soft_tissue COSM942094 MBD6 c.2852G>A p.R951H Substitution - Missense Endometrium COSM1412231 ZMYND8 c.3026C>T p.A1009V Substitution - Missense Large_intestine COSM5620775 EZH2 c.347T>C p.L116P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4590050 PRDM10 c.1332A>C p.E444D Substitution - Missense Upper_aerodigestive_tract COSM266551 FMR1 c.1292G>A p.R431H Substitution - Missense Large_intestine COSM3048579 SP100 c.2075A>G p.N692S Substitution - Missense Prostate COSM4847658 PHF17 c.493G>A p.E165K Substitution - Missense Cervix COSM2158569 JMJD1C c.1043G>T p.S348I Substitution - Missense Large_intestine COSM40207 KDM3A c.1400G>A p.C467Y Substitution - Missense Central_nervous_system COSM312283 KIAA1045 c.131G>A p.R44H Substitution - Missense Lung COSM133736 DNMT3A c.1792C>T p.R598* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4391359 HDAC1 c.286G>A p.V96I Substitution - Missense Breast COSM932707 EED c.121G>A p.A41T Substitution - Missense Endometrium COSM315688 SUV420H1 c.1891C>G p.P631A Substitution - Missense Lung COSM3296176 MBD5 c.2324T>C p.V775A Substitution - Missense Large_intestine COSM5725279 MORF4L2 c.11G>A p.R4K Substitution - Missense Skin COSM3796554 DNMT1 c.4485C>T p.L1495L Substitution - coding silent Urinary_tract COSM1238724 DPF2 c.857C>T p.T286M Substitution - Missense Prostate COSM4780477 MYST1 c.642C>T p.L214L Substitution - coding silent Liver COSM5879089 EZH2 c.1768_1769insT p.C590fs*8 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5443741 TFPT c.513G>C p.R171S Substitution - Missense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5966022 TAF1L c.643C>G p.Q215E Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM144494 DNMT3A c.2284_2285insCCATGG p.G762>AMG Complex - insertion inframe Haematopoietic_and_lymphoid_tissue COSM5412833 KDM5C c.3548C>T p.S1183F Substitution - Missense Skin COSM274042 ARID4A c.3483G>A p.P1161P Substitution - coding silent Large_intestine COSM4604020 KMT2D c.9764T>C p.L3255P Substitution - Missense Upper_aerodigestive_tract COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM220523 EP300 c.4492G>A p.A1498T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4475489 KDM6A c.1993C>T p.P665S Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1075239 JARID2 c.553G>T p.V185F Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM273788 POGZ c.3637_3638delTG p.W1213fs*31 Deletion - Frameshift Large_intestine COSM4833926 PHF21A c.1874C>T p.A625V Substitution - Missense Cervix COSM1368704 MTA1 c.1243C>T p.R415C Substitution - Missense Large_intestine COSM1381235 RAI1 c.2391delC p.P799fs*20 Deletion - Frameshift Stomach COSM5884869 UHRF2 c.1399G>A p.E467K Substitution - Missense Breast COSM748323 TRRAP c.9531G>C p.L3177F Substitution - Missense Lung COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM5730756 KMT2D c.5545delG p.A1849fs*25 Deletion - Frameshift Breast COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM5550665 PRMT7 c.253G>A p.A85T Substitution - Missense Prostate COSM1315741 UTY c.1719G>A p.L573L Substitution - coding silent Urinary_tract COSM3833571 TRRAP c.516C>T p.Y172Y Substitution - coding silent Breast COSM1169672 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM1716878 TET2 c.3700G>T p.E1234* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4570254 SHPRH c.249T>C p.I83I Substitution - coding silent Skin COSM4911735 SRCAP c.9005C>G p.P3002R Substitution - Missense Liver COSM4713926 PHF14 c.1445C>T p.A482V Substitution - Missense Large_intestine COSM4937498 SUV420H1 c.103A>T p.T35S Substitution - Missense Liver COSM186976 CBX6 c.1173C>T p.F391F Substitution - coding silent Skin COSM87072 TET2 c.521_521delC p.P174fs*9 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3068886 SETD2 c.5194G>C p.V1732L Substitution - Missense Skin COSM49153 EZH2 c.1983_1983delA p.V662fs*13 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4386508 KDM5D c.407G>A p.R136Q Substitution - Missense Large_intestine COSM4772838 AP001011.3_ENST00000320876 c.2311A>T p.K771* Substitution - Nonsense Stomach COSM4590631 GLYR1 c.1377C>G p.H459Q Substitution - Missense Upper_aerodigestive_tract COSM5496565 JMJD1C c.2470G>A p.E824K Substitution - Missense Biliary_tract COSM3579801 HDAC4 c.1854C>T p.P618P Substitution - coding silent Stomach COSM4839009 TAF1L c.4907A>G p.D1636G Substitution - Missense Cervix COSM30618 SMARCA4 c.3478G>C p.G1160R Substitution - Missense Lung COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM30574 SMARCA4 c.589C>T p.P197S Substitution - Missense Breast COSM35337 ASXL1 c.1830C>T p.G610G Substitution - coding silent Central_nervous_system COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51418 ARID1A c.5164C>T p.R1722* Substitution - Nonsense Large_intestine COSM51386 SMARCB1 c.566_567ins19 p.L191fs*26 Insertion - Frameshift Soft_tissue COSM51441 ARID1A c.5161C>T p.R1721* Substitution - Nonsense Endometrium COSM53200 ASXL1 c.1773C>G p.Y591* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM72032 ORC1 c.951C>G p.I317M Substitution - Missense Ovary COSM95398 TIF1 c.2017G>C p.D673H Substitution - Missense Ovary COSM133127 DNMT3A c.1743G>T p.W581C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM147696 TDRD3 c.1943G>A p.R648Q Substitution - Missense Stomach COSM167069 MECOM c.2341C>T p.R781C Substitution - Missense Oesophagus COSM235738 EP300 c.3442_3447delGTCTTT p.V1148_F1149delVF Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM236057 ASH1L c.4769G>T p.G1590V Substitution - Missense Autonomic_ganglia COSM255406 NCOR1 c.4996C>T p.H1666Y Substitution - Missense Central_nervous_system COSM302483 KIAA2026_ENST00000399933 c.2187_2188insA p.A730fs*15 Insertion - Frameshift Oesophagus COSM291954 ASXL1 c.1492G>T p.A498S Substitution - Missense Kidney COSM312766 MBD5 c.547G>T p.V183L Substitution - Missense Lung COSM304519 PRMT8 c.127G>A p.V43M Substitution - Missense Large_intestine COSM354780 DHX30 c.196G>T p.G66C Substitution - Missense Lung COSM385771 PHF6 c.565G>A p.E189K Substitution - Missense Lung COSM379334 WHSC1 c.3295G>A p.E1099K Substitution - Missense Kidney COSM421509 HDAC9 c.2883C>G p.L961L Substitution - coding silent Urinary_tract COSM423113 PBRM1 c.2944_2951delAGACTGTG p.R982fs*6 Deletion - Frameshift Kidney COSM430522 HNF1A c.79A>C p.I27L Substitution - Missense Soft_tissue COSM430522 HNF1A c.79A>C p.I27L Substitution - Missense Prostate COSM972507 CTCF c.1891G>T p.E631* Substitution - Nonsense Endometrium COSM987400 SMCHD1 c.816G>T p.E272D Substitution - Missense Endometrium COSM480353 PBRM1 c.2548C>T p.R850* Substitution - Nonsense Oesophagus COSM944341 PHC1 c.2495G>A p.S832N Substitution - Missense Endometrium COSM939246 KDM5A c.2821G>A p.A941T Substitution - Missense Endometrium COSM745871 KMT2C c.6136C>A p.P2046T Substitution - Missense Lung COSM756951 KDM5C c.1840G>T p.A614S Substitution - Missense Lung COSM703848 CTCF c.2166C>G p.L722L Substitution - coding silent Lung COSM731348 BRPF1 c.1659G>T p.G553G Substitution - coding silent Lung COSM1074192 SHPRH c.3514C>T p.R1172* Substitution - Nonsense Endometrium COSM1108533 KIAA1045 c.761C>T p.A254V Substitution - Missense Endometrium COSM1114030 ZBTB33 c.1172T>G p.I391S Substitution - Missense Endometrium COSM1121690 PHF16 c.535T>C p.C179R Substitution - Missense Endometrium COSM1116459 FMR1 c.338G>A p.R113K Substitution - Missense Endometrium COSM1087058 EZH2 c.697G>T p.D233Y Substitution - Missense Endometrium COSM1106564 BRD3 c.482C>T p.A161V Substitution - Missense Endometrium COSM1080953 PHF3 c.2597G>A p.R866Q Substitution - Missense Endometrium COSM1166763 DNMT3A c.2706delC p.F902fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1169570 PBRM1 c.3335_3335delA p.N1112fs*47 Deletion - Frameshift Kidney COSM1180737 SIRT1 c.760delA p.I256fs*2 Deletion - Frameshift Large_intestine COSM1211759 KDM5A c.4537C>T p.R1513W Substitution - Missense Large_intestine COSM1190579 TAF1 c.3580T>G p.Y1194D Substitution - Missense Lung COSM1313190 ACTB c.472G>A p.G158R Substitution - Missense Urinary_tract COSM1319912 ASH1L c.6236_6238delATG p.D2079delD Deletion - In frame Ovary COSM1270302 VPS72 c.1073G>A p.R358H Substitution - Missense Stomach COSM1386330 ZBTB4 c.2020C>T p.R674C Substitution - Missense Large_intestine COSM1387293 BAHCC1 c.5178C>T p.G1726G Substitution - coding silent Large_intestine COSM1387351 CHD3 c.1612delC p.R540fs*16 Deletion - Frameshift Stomach COSM1412236 ZMYND8 c.2097A>C p.A699A Substitution - coding silent Large_intestine COSM1490969 KDM6A c.4176+1G>C p.? Unknown Breast COSM1485398 ACTR8 c.997C>A p.Q333K Substitution - Missense Breast COSM1579331 UHRF2 c.2020G>T p.A674S Substitution - Missense Fallopian_tube COSM1644381 AICDA c.160G>A p.G54S Substitution - Missense Salivary_gland COSM1643595 ASH2L c.1565_1566insA p.D524fs*5 Insertion - Frameshift Stomach COSM1681632 NCOA6 c.4772C>T p.P1591L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1675362 KAT6B c.2397T>G p.I799M Substitution - Missense Large_intestine COSM1682027 AIRE c.230T>A p.F77Y Substitution - Missense Large_intestine COSM1702653 KAT6B c.670G>A p.E224K Substitution - Missense Skin COSM1660427 ADNP c.1700C>T p.T567I Substitution - Missense Kidney COSM1733389 KMT2C c.10507C>G p.Q3503E Substitution - Missense Pancreas COSM2158503 JMJD1C c.2429G>C p.S810T Substitution - Missense Large_intestine COSM2139737 IDH2 c.569G>A p.G190D Substitution - Missense Large_intestine COSM2834923 CHD9 c.6660C>T p.S2220S Substitution - coding silent Upper_aerodigestive_tract COSM2920000 CREBBP c.3250_3250+1insA p.I1084fs*3 Unknown Large_intestine COSM3113521 SETD1A c.1926G>A p.P642P Substitution - coding silent Oesophagus COSM3153141 EP300 c.3648G>T p.G1216G Substitution - coding silent Upper_aerodigestive_tract COSM3160292 PHF3 c.3064G>T p.E1022* Substitution - Nonsense Large_intestine COSM3180213 SUZ12 c.1522C>T p.R508C Substitution - Missense Large_intestine COSM3361607 MGA c.1353A>G p.S451S Substitution - coding silent Kidney COSM3381535 KDM1B c.536C>A p.P179H Substitution - Missense Pancreas COSM3387514 SETD6 c.604C>T p.Q202* Substitution - Nonsense Pancreas COSM3418913 KDM1A c.2233G>A p.D745N Substitution - Missense Large_intestine COSM3467904 RNF17 c.1399G>A p.G467S Substitution - Missense Skin COSM3472827 PRDM2 c.2954C>T p.P985L Substitution - Missense Skin COSM3630861 ACTL6B c.1052A>G p.N351S Substitution - Missense Skin COSM3627958 TDRD6 c.3778G>T p.E1260* Substitution - Nonsense Skin COSM3596048 PHF7 c.900T>C p.C300C Substitution - coding silent Skin COSM3590007 PHC3 c.2500C>T p.L834F Substitution - Missense Skin COSM3561982 HDAC6 c.2850G>A p.Q950Q Substitution - coding silent Skin COSM3526905 L3MBTL4 c.1778C>T p.P593L Substitution - Missense Skin COSM3697890 TDRD6 c.454G>A p.A152T Substitution - Missense Large_intestine COSM3666559 HNF1A c.812_813insCGG p.R271_R272insG Insertion - In frame Liver COSM3704147 ARID2 c.3648G>A p.T1216T Substitution - coding silent Liver COSM3749370 SETD6 c.193T>C p.L65L Substitution - coding silent Large_intestine COSM3762594 STK31 c.213G>C p.Q71H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3794909 CHD9 c.7610G>A p.R2537K Substitution - Missense Urinary_tract COSM3799657 ADNP c.342C>T p.F114F Substitution - coding silent Urinary_tract COSM3831986 TIF1 c.3025A>G p.I1009V Substitution - Missense Breast COSM3881870 ACTB c.881A>G p.Y294C Substitution - Missense Stomach COSM3900876 CHD7 c.6158G>A p.R2053Q Substitution - Missense Oesophagus COSM4023186 LMNA c.1488+2T>G p.? Unknown Stomach COSM4041995 ARID2 c.4511G>A p.R1504Q Substitution - Missense Stomach COSM4104450 L3MBTL2 c.2056A>G p.K686E Substitution - Missense Stomach COSM4075109 MBD3 c.194G>A p.R65H Substitution - Missense Stomach COSM4162006 KMT2C c.2645T>C p.I882T Substitution - Missense Thyroid COSM4161727 PHF14 c.456A>C p.T152T Substitution - coding silent Thyroid COSM4385407 ATRX c.6955delA p.M2319fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4387449 BAP1 c.37+1_37+7delGTGAGGA p.? Unknown Eye COSM4405938 KDM4C c.629+2C>T p.? Unknown Skin COSM4415607 WDR5 c.150C>T p.S50S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4420798 ACTB c.145C>T p.Q49* Substitution - Nonsense Prostate COSM4426650 PRDM13 c.779A>C p.D260A Substitution - Missense Oesophagus COSM4580732 MBD3 c.837G>A p.E279E Substitution - coding silent Bone COSM4586193 NCOA7 c.650G>A p.G217D Substitution - Missense Bone COSM4478694 PRDM11 c.327C>T p.F109F Substitution - coding silent Skin COSM4411041 ZMYM5 c.530T>C p.M177T Substitution - Missense Kidney COSM4411501 DIDO1 c.5523A>G p.Q1841Q Substitution - coding silent Oesophagus COSM4732673 TCF20 c.971C>A p.P324H Substitution - Missense Large_intestine COSM4768972 KAT2B c.1301C>T p.S434F Substitution - Missense Biliary_tract COSM4611197 PHF3 c.2621delA p.I876fs*26 Deletion - Frameshift Large_intestine COSM4771400 PBRM1 c.3640_3641delGA p.E1214fs*5 Deletion - Frameshift Kidney COSM4791756 CHD8 c.2436G>A p.R812R Substitution - coding silent Liver COSM4796076 PRMT8 c.834G>A p.V278V Substitution - coding silent Liver COSM4804476 SRCAP c.4477T>C p.L1493L Substitution - coding silent Liver COSM4889039 SETD1A c.928T>C p.S310P Substitution - Missense Upper_aerodigestive_tract COSM4892791 CDYL2 c.979G>A p.E327K Substitution - Missense Skin COSM4919103 KAT6B c.5282G>A p.S1761N Substitution - Missense Liver COSM4940188 SMARCA4 c.3203G>T p.G1068V Substitution - Missense Liver COSM4842665 PRDM7 c.428C>G p.S143* Substitution - Nonsense Cervix COSM4832084 MEN1 c.432C>T p.F144F Substitution - coding silent Cervix COSM4832459 SMC1A c.731C>G p.S244* Substitution - Nonsense Cervix COSM4949635 ARID1A c.31_56del26 p.S11fs*91 Deletion - Frameshift Liver COSM4998374 CHD9 c.2832C>A p.S944R Substitution - Missense Pancreas COSM5003431 PBRM1 c.1891G>A p.D631N Substitution - Missense Pancreas COSM4976592 KMT2D c.9682_9683insC p.Q3229fs*6 Insertion - Frameshift Oesophagus COSM5005633 SETD2 c.4039_4040insGG p.A1348fs*15 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4986791 CHD8 c.380A>G p.E127G Substitution - Missense Soft_tissue COSM4986792 CHD9 c.1943A>G p.D648G Substitution - Missense Soft_tissue COSM5066858 TDG c.408+1_409-1del820 p.? Unknown Large_intestine COSM5177046 ZMYM4 c.3660_3661insA p.N1222fs*15 Insertion - Frameshift Large_intestine COSM5393003 AIRE c.106G>A p.D36N Substitution - Missense Skin COSM5517835 MYST3 c.1563C>G p.T521T Substitution - coding silent Biliary_tract COSM5486212 IDH1 c.643A>T p.I215F Substitution - Missense Large_intestine COSM5487440 SUV420H1 c.2434C>T p.R812* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5487571 TRIM24 c.2729G>T p.R910L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5678985 EPC2 c.1669G>T p.V557F Substitution - Missense Soft_tissue COSM5693708 GABRG1 c.1303C>G p.R435G Substitution - Missense Soft_tissue COSM5703707 KAT6B c.4994G>A p.S1665N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5551436 CHD8 c.3108T>G p.D1036E Substitution - Missense Prostate COSM5762870 DNMT3A c.1312G>A p.D438N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5791566 BRWD3 c.5132G>C p.R1711T Substitution - Missense Breast COSM5878766 DNMT3A c.2193delC p.F732fs*47 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5878776 DNMT3A c.2116G>T p.G706W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5878788 DNMT3A c.1933A>G p.T645A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5879019 TET2 c.3729_3733delACTCT p.Y1245fs*21 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5805683 SMARCA2 c.674A>T p.Q225L Substitution - Missense Liver COSM5812511 BAZ2B c.365A>T p.H122L Substitution - Missense Liver COSM5945613 PHF6 c.730-2A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5919467 TRRAP c.6371C>T p.S2124F Substitution - Missense Skin COSM5955949 TDRD7 c.2802G>A p.E934E Substitution - coding silent Upper_aerodigestive_tract COSM5968605 TRRAP c.6866C>A p.P2289H Substitution - Missense Genital_tract COSM5995868 PHF15 c.1371G>A p.Q457Q Substitution - coding silent Prostate COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM51384 IDH1 c.? p.R132L Substitution - Missense Central_nervous_system COSM144696 PHF6 c.? p.Y303fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM210738 MSH6 c.? p.V509A Substitution - Missense Lung COSM1684832 SETBP1 c.? p.S869N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3515533 PHF12 c.1488C>T p.C496C Substitution - coding silent Skin COSM3738012 PHF12 c.970-6C>T p.? Unknown Soft_tissue COSM1489304 MYST3 c.3908A>G p.D1303G Substitution - Missense Breast COSM3831101 PHIP c.4513C>T p.R1505* Substitution - Nonsense Breast COSM2149381 DNMT3B c.1634G>A p.R545H Substitution - Missense Stomach COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM5569364 PRDM9 c.52A>G p.T18A Substitution - Missense Prostate COSM1615122 PCGF1 c.419T>G p.F140C Substitution - Missense Liver COSM1757204 TRRAP c.2600C>T p.P867L Substitution - Missense Urinary_tract COSM2866658 TRRAP c.5472C>T p.H1824H Substitution - coding silent Large_intestine COSM2808690 SMCHD1 c.3619G>A p.A1207T Substitution - Missense Prostate COSM1093651 TRRAP c.6717C>T p.Y2239Y Substitution - coding silent Endometrium COSM5597642 SMYD4 c.1024C>T p.L342F Substitution - Missense Skin COSM5671149 MBD3 c.92G>T p.R31M Substitution - Missense Soft_tissue COSM5879028 TET2 c.3955-2A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM2112141 PRMT3 c.692A>C p.E231A Substitution - Missense Large_intestine COSM1169520 KDM5C c.1880G>C p.R627P Substitution - Missense Kidney COSM30385 SETD2 c.4841delC p.S1614fs*30 Deletion - Frameshift Kidney COSM4834573 SETDB1 c.1753C>A p.R585R Substitution - coding silent Cervix COSM1193141 ASH1L c.3814C>T p.R1272W Substitution - Missense Cervix COSM3733426 KMT2D c.9010_9039>27 p.Q3012delQ Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM429983 EED c.619C>T p.L207L Substitution - coding silent Soft_tissue COSM5416717 PHF12 c.591G>A p.A197A Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM87011 DNMT3A c.2141C>G p.S714C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87192 TET2 c.5885C>T p.P1962L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3413593 TAF1L c.3391A>G p.K1131E Substitution - Missense Central_nervous_system COSM1107817 SMARCA2 c.3925C>T p.R1309C Substitution - Missense Breast COSM6006959 PBRM1 c.2066C>T p.S689F Substitution - Missense Prostate COSM1354944 PHRF1 c.512T>C p.V171A Substitution - Missense Large_intestine COSM4838891 PRDM9 c.1022A>T p.Y341F Substitution - Missense Cervix COSM4890940 BRD8 c.69G>C p.E23D Substitution - Missense Upper_aerodigestive_tract COSM1067063 PRDM9 c.366G>A p.A122A Substitution - coding silent Endometrium COSM695871 MPHOSPH8 c.707G>C p.R236T Substitution - Missense Lung COSM5940153 MTA2 c.594-7C>T p.? Unknown Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM148009 CREBBP c.3837-8C>T p.? Unknown Stomach COSM42069 TET2 c.4474_4474delG p.E1492fs*79 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4731983 TAF1L c.3757C>G p.L1253V Substitution - Missense Large_intestine COSM364122 TAF1L c.3962A>T p.E1321V Substitution - Missense Lung COSM5607881 ARID2 c.3431C>T p.P1144L Substitution - Missense Skin COSM1179107 KMT2C c.851G>A p.R284Q Substitution - Missense Upper_aerodigestive_tract COSM1606136 ARID2 c.2392C>T p.Q798* Substitution - Nonsense Liver COSM5990194 HNF1A c.476G>C p.R159P Substitution - Missense Liver COSM4619669 TDRD5 c.2675C>G p.S892C Substitution - Missense Large_intestine COSM481352 CLOCK c.1267A>G p.R423G Substitution - Missense Kidney COSM3974918 GABRG1 c.703T>C p.L235L Substitution - coding silent Central_nervous_system COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM5607842 ARID1A c.3329G>A p.G1110E Substitution - Missense Skin COSM5051003 MEN1 c.1011C>T p.A337A Substitution - coding silent Stomach COSM4531498 MGA c.1795G>A p.V599I Substitution - Missense Skin COSM3717858 AP001011.3_ENST00000320876 c.3087G>T p.K1029N Substitution - Missense Liver COSM4949463 TBL1XR1 c.1109_1121del13 p.D370fs*5 Deletion - Frameshift Liver COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4386065 CHD2 c.3878C>A p.T1293N Substitution - Missense Large_intestine COSM1490974 PHF16 c.974G>A p.C325Y Substitution - Missense Breast COSM3385047 TRIM33 c.2525C>T p.P842L Substitution - Missense Pancreas COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1239602 NIPBL c.133C>T p.R45* Substitution - Nonsense Oesophagus COSM906836 SMYD3 c.381T>C p.C127C Substitution - coding silent Endometrium COSM4926728 KDM4A c.749T>C p.L250P Substitution - Missense Liver COSM2230150 PRDM2 c.4323G>T p.K1441N Substitution - Missense Large_intestine COSM318951 BRWD3 c.2590G>A p.A864T Substitution - Missense Lung COSM147495 KMT2D c.11700A>G p.P3900P Substitution - coding silent Soft_tissue COSM1312867 KMT2C c.9638C>T p.S3213L Substitution - Missense Skin COSM1235310 UHRF1 c.1_193-7069del11307 p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5734595 PHIP c.1511C>G p.S504C Substitution - Missense Pancreas COSM1383604 HDAC5 c.923C>T p.S308L Substitution - Missense Oesophagus COSM292454 SETD7 c.874G>T p.G292* Substitution - Nonsense Large_intestine COSM4496896 DIDO1 c.4854C>T p.P1618P Substitution - coding silent Skin COSM4516467 TTF2 c.1953_1954CC>TT p.(=) Unknown Skin COSM3411148 TDRD6 c.872C>T p.T291M Substitution - Missense Central_nervous_system COSM5059521 FXR1 c.1789A>G p.T597A Substitution - Missense Stomach COSM1310087 GABRG1 c.1037C>T p.A346V Substitution - Missense Urinary_tract COSM73349 ZCWPW2 c.137G>T p.S46I Substitution - Missense Ovary COSM1048014 ATXN7 c.1262C>T p.T421M Substitution - Missense Endometrium COSM433905 TP53BP1 c.4850T>G p.I1617S Substitution - Missense Breast COSM3307315 HDAC9 c.2820G>A p.T940T Substitution - coding silent Stomach COSM1375552 CHD2 c.3725delA p.K1245fs*4 Deletion - Frameshift Large_intestine COSM4060692 CREBBP c.6621A>G p.Q2207Q Substitution - coding silent Stomach COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM294684 RNF134 c.281A>C p.E94A Substitution - Missense Large_intestine COSM3807278 ERCC6 c.4062G>T p.Q1354H Substitution - Missense Breast COSM3440911 TAF3 c.1723C>T p.P575S Substitution - Missense Skin COSM43412 TET2 c.?_?del? p.?fs Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5894925 PCGF6 c.178C>T p.R60W Substitution - Missense Skin COSM4685173 FMR1 c.1412G>A p.R471Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1705205 ATF7IP c.937G>A p.D313N Substitution - Missense Skin COSM1235374 ARID1A c.942C>G p.G314G Substitution - coding silent Breast COSM5027498 KMT2A c.9871T>C p.S3291P Substitution - Missense Breast COSM720758 DNMT3A c.2039A>G p.K680R Substitution - Missense Lung COSM1679025 SETD1A c.122G>A p.R41H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM255295 KMT2D c.3655C>T p.Q1219* Substitution - Nonsense Central_nervous_system COSM4596479 BAHCC1 c.5240A>C p.N1747T Substitution - Missense Upper_aerodigestive_tract COSM255214 MEN1 c.427_427delC p.L143fs*42 Deletion - Frameshift Lung COSM920698 TAF3 c.638G>A p.R213Q Substitution - Missense Endometrium COSM3861636 TCF19 c.26G>A p.R9H Substitution - Missense Stomach COSM5353077 SETDB1 c.3569G>A p.S1190N Substitution - Missense Large_intestine COSM1715185 ATRX c.248C>T p.P83L Substitution - Missense Skin COSM3626165 BRPF3 c.1551C>T p.V517V Substitution - coding silent Skin COSM4158094 SMARCC1 c.2425G>T p.D809Y Substitution - Missense Thyroid COSM3488860 ZMYM6 c.1060C>T p.Q354* Substitution - Nonsense Skin COSM3359277 MTA2 c.1832A>T p.K611M Substitution - Missense Kidney COSM5392549 DIDO1 c.3905C>T p.S1302F Substitution - Missense Skin COSM5617513 SMARCA1 c.3129T>G p.T1043T Substitution - coding silent Lung COSM4650423 KDM6B c.4897G>A p.A1633T Substitution - Missense Large_intestine COSM3514786 RAI1 c.5546T>G p.M1849R Substitution - Missense Skin COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM306845 SETD2 c.5629_5635CCCCCCT>CCCCCCCT p.P1877fs Complex Central_nervous_system COSM4940877 ADNP c.1521G>A p.M507I Substitution - Missense Liver COSM454520 ASH2L c.1749G>T p.K583N Substitution - Missense Breast COSM3578873 SP140 c.75C>T p.I25I Substitution - coding silent Skin COSM1328890 NSD1 c.290T>A p.F97Y Substitution - Missense Ovary COSM1670988 GABRG1 c.1034T>G p.F345C Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5752047 TDRD6 c.4954_4955insT p.D1652fs*5 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5724750 PRDM9 c.268G>A p.D90N Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3416667 ATF7IP c.3293G>A p.R1098Q Substitution - Missense Large_intestine COSM41888 TET2 c.? p.R1214W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5945039 TET2 c.2983A>C p.T995P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3753974 METTL21D c.188C>A p.A63D Substitution - Missense Large_intestine COSM207998 MECOM c.1839delA p.G614fs*30 Deletion - Frameshift Large_intestine COSM41293 IDH1 c.? p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4012679 MGMT c.350T>C p.L117S Substitution - Missense Stomach COSM5735853 LBR c.1814G>A p.R605H Substitution - Missense Small_intestine COSM4940014 PRDM15 c.2475G>T p.T825T Substitution - coding silent Liver COSM5803882 ZMYM4 c.175C>A p.Q59K Substitution - Missense Liver COSM4395199 KDM2A c.2869C>T p.L957F Substitution - Missense Skin COSM3775274 ACTR8 c.1054C>G p.H352D Substitution - Missense Urinary_tract COSM32444 KMT2C c.1198G>A p.D400N Substitution - Missense Large_intestine COSM240280 JMJD1C c.4292A>G p.Y1431C Substitution - Missense Endometrium COSM34192 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM87110 TET2 c.2862G>A p.W954* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM51200 ASXL1 c.1888_1910del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34192 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM231546 TET2 c.65C>T p.P22L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716807 TET2 c.? p.Q1547* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM234681 MECOM c.1629G>A p.K543K Substitution - coding silent Skin COSM4991362 ASXL1 c.1707C>T p.V569V Substitution - coding silent Skin COSM341412 PRDM9 c.2651G>T p.G884V Substitution - Missense Lung COSM1520559 NCOR1 c.470C>T p.S157F Substitution - Missense Skin COSM147497 KMT2D c.2015-8C>T p.? Unknown Soft_tissue COSM1288192 SRCAP c.2023C>A p.P675T Substitution - Missense Autonomic_ganglia COSM4146853 EP400 c.6646A>C p.T2216P Substitution - Missense Upper_aerodigestive_tract COSM3633851 TRIM24 c.1378C>T p.P460S Substitution - Missense Skin COSM300572 BRWD3 c.4944C>A p.T1648T Substitution - coding silent Large_intestine COSM1118560 RBBP7 c.1132G>A p.D378N Substitution - Missense Endometrium COSM3360373 ASH1L c.7428T>A p.A2476A Substitution - coding silent Kidney COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4932643 BPTF c.3751A>G p.S1251G Substitution - Missense Liver COSM1412225 EYA2 c.1108G>A p.V370M Substitution - Missense Liver COSM972484 CTCF c.1061C>T p.S354F Substitution - Missense Breast COSM3589842 MECOM c.2668G>A p.D890N Substitution - Missense Skin COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM138175 RERE c.2138C>T p.P713L Substitution - Missense Skin COSM4495329 TAF1L c.4515C>A p.D1505E Substitution - Missense Skin COSM4502002 LBR c.602C>T p.P201L Substitution - Missense Skin COSM4545139 KMT2A c.3711G>T p.V1237V Substitution - coding silent Skin COSM4427355 TDRD7 c.1591C>T p.R531W Substitution - Missense Oesophagus COSM4489517 PHF23 c.348C>T p.F116F Substitution - coding silent Skin COSM5347136 ARID1A c.1413C>A p.Y471* Substitution - Nonsense Endometrium COSM3578876 SP140_ENST00000392045 c.244C>T p.Q82* Substitution - Nonsense Skin COSM3909081 PHF2 c.2402T>C p.M801T Substitution - Missense Stomach COSM3487580 ARID1A c.2605G>A p.G869S Substitution - Missense Skin COSM3777066 NCOA7 c.1536C>T p.N512N Substitution - coding silent Urinary_tract COSM110721 BAP1 c.178C>T p.R60* Substitution - Nonsense Biliary_tract COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4603246 RNF134 c.84_85insGCCTCC p.P28_V29insAS Insertion - In frame Upper_aerodigestive_tract COSM4960601 ELP3 c.1271G>A p.R424K Substitution - Missense Liver COSM1717192 BAHD1 c.1958G>T p.W653L Substitution - Missense Ovary COSM2270982 ASXL1 c.1249C>T p.R417* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM123824 JMJD1C c.4444G>A p.D1482N Substitution - Missense Upper_aerodigestive_tract COSM4918422 MBD5 c.2034T>C p.S678S Substitution - coding silent Liver COSM4385129 ASXL1 c.3518T>C p.L1173S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5416448 PYGO1 c.725C>A p.T242N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3416665 ATF7IP c.2158+2T>C p.? Unknown Large_intestine COSM3664561 BRWD1 c.1434C>A p.P478P Substitution - coding silent Breast COSM1334447 TDRD10 c.741C>T p.R247R Substitution - coding silent Central_nervous_system COSM693694 KMT2D c.8802A>T p.P2934P Substitution - coding silent Lung COSM1479581 KAT2A c.471C>T p.H157H Substitution - coding silent Breast COSM5899608 TDRD1 c.1753C>T p.L585F Substitution - Missense Skin COSM1470336 RERE c.4301C>T p.S1434F Substitution - Missense Prostate COSM1287106 PHF10 c.178G>C p.D60H Substitution - Missense Autonomic_ganglia COSM757220 PHF16 c.822G>T p.W274C Substitution - Missense Lung COSM3744347 METTL21D c.14T>C p.L5P Substitution - Missense Liver COSM3696119 SETD2 c.6115G>C p.E2039Q Substitution - Missense Large_intestine COSM5134608 TDRD6 c.1488_1489insA p.N498fs*4 Insertion - Frameshift Large_intestine COSM5560163 EHMT2 c.2668C>A p.L890M Substitution - Missense Prostate COSM3008221 PRDM5 c.1139T>G p.L380R Substitution - Missense Stomach COSM993 SMARCB1 c.601C>T p.R201* Substitution - Nonsense Soft_tissue COSM1286176 MGA c.9202G>T p.A3068S Substitution - Missense Autonomic_ganglia COSM4515917 WHSC1 c.1425_1426CC>TT p.P476S Substitution - Missense Skin COSM756953 KDM5C c.2266C>A p.L756I Substitution - Missense Lung COSM400815 BRDT c.1047C>A p.Y349* Substitution - Nonsense Lung COSM1315513 KDM6A c.571C>T p.Q191* Substitution - Nonsense Urinary_tract COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Biliary_tract COSM3368367 PHF21A c.1469T>C p.M490T Substitution - Missense Thyroid COSM5384769 SETD1A c.3234C>T p.S1078S Substitution - coding silent Skin COSM42073 TET2 c.5738G>T p.G1913V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2008693 SMARCD1 c.128G>A p.G43E Substitution - Missense Skin COSM430252 PRDM4 c.1950G>C p.L650F Substitution - Missense Breast COSM5451568 PHF20 c.1437G>A p.M479I Substitution - Missense Large_intestine COSM4022071 SETDB1 c.1853A>G p.N618S Substitution - Missense Stomach COSM1124864 TAF1 c.334G>T p.D112Y Substitution - Missense Endometrium COSM3598846 TET2 c.44G>T p.S15I Substitution - Missense Skin COSM3665149 FTO c.268C>T p.L90L Substitution - coding silent Oesophagus COSM5679514 CREBBP c.4237C>T p.H1413Y Substitution - Missense Soft_tissue COSM427943 KAT6B c.4128A>G p.G1376G Substitution - coding silent Breast COSM2965373 KDM6A c.2171T>C p.I724T Substitution - Missense Upper_aerodigestive_tract COSM1709074 SRCAP c.2960C>T p.P987L Substitution - Missense Skin COSM394227 CHD6 c.288G>T p.R96R Substitution - coding silent Lung COSM52947 IDH2 c.? p.R172? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM211738 TET2 c.4807C>T p.Q1603* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4101601 BRWD1 c.2618G>A p.G873D Substitution - Missense Stomach COSM5944163 KMT2C c.329G>A p.R110Q Substitution - Missense Bone COSM3665503 TDRD1 c.1292A>T p.N431I Substitution - Missense Liver COSM3741942 CHD9 c.2434C>T p.L812L Substitution - coding silent Liver COSM4118003 SETD2 c.3628G>T p.D1210Y Substitution - Missense Stomach COSM3148771 DNMT1 c.3419G>A p.R1140Q Substitution - Missense Stomach COSM3033674 MECP2 c.920A>G p.K307R Substitution - Missense Large_intestine COSM3975486 PRDM9 c.1675C>T p.R559W Substitution - Missense Central_nervous_system COSM971407 CHD9 c.566G>A p.G189E Substitution - Missense Endometrium COSM5998236 TAF1L c.1526C>T p.A509V Substitution - Missense Prostate COSM97160 PRDM1 c.1747C>T p.Q583* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4990126 KMT2A c.5138G>A p.R1713K Substitution - Missense Skin COSM1162657 SIRT5 c.714G>C p.E238D Substitution - Missense Pancreas COSM433836 MGA c.7354C>G p.L2452V Substitution - Missense Breast COSM97131 IDH1 c.532G>A p.V178I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM735548 KDM3B c.4347G>C p.R1449S Substitution - Missense Lung COSM3883728 TRRAP c.4637G>A p.R1546Q Substitution - Missense Stomach COSM3380797 PRDM5 c.865+5G>T p.? Unknown Pancreas COSM4725913 SHPRH c.1563T>A p.D521E Substitution - Missense Large_intestine COSM1610669 BPTF c.7760A>T p.K2587I Substitution - Missense Liver COSM4838596 INO80B c.562G>A p.E188K Substitution - Missense Cervix COSM1266934 STK31 c.1031C>A p.A344D Substitution - Missense Oesophagus COSM329440 KDM2A c.2124C>T p.C708C Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5352416 HNF1A c.1309_1309+1ins300 p.G437_L438ins100 Insertion - In frame Liver COSM380490 SMYD1 c.579G>T p.V193V Substitution - coding silent Lung COSM4490130 NIPBL c.3585C>T p.D1195D Substitution - coding silent Skin COSM228090 EYA4 c.16G>A p.D6N Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM258903 PCNA c.506T>G p.F169C Substitution - Missense Large_intestine COSM4615077 ATRX c.6896delC p.P2299fs*21 Deletion - Frameshift Large_intestine COSM308640 BRD8 c.532_533insC p.R178fs*20 Insertion - Frameshift Lung COSM336558 DOT1L c.2043C>T p.R681R Substitution - coding silent Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM382268 TCF20 c.2994G>T p.R998R Substitution - coding silent Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4016600 BTAF1 c.1662T>G p.S554S Substitution - coding silent Stomach COSM3618958 CHD1 c.2088C>T p.R696R Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM86942 IKZF1 c.1-?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM987379 AP001011.3_ENST00000320876 c.1031G>A p.R344Q Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM253895 ZMYND8 c.2074G>C p.E692Q Substitution - Missense Urinary_tract COSM3547351 ZMYND8 c.2155C>T p.P719S Substitution - Missense Skin COSM2777617 KIAA2026_ENST00000399933 c.1116G>A p.A372A Substitution - coding silent Large_intestine COSM5934222 ASH1L c.3271C>T p.P1091S Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM907684 ARID1A c.1351-1G>T p.? Unknown Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4085896 BAZ2B c.562G>C p.V188L Substitution - Missense Stomach COSM4169395 PBRM1 c.? p.R1173C Substitution - Missense Skin COSM5788984 MYST2 c.508C>T p.P170S Substitution - Missense Breast COSM4389056 CHD6 c.4105G>A p.E1369K Substitution - Missense Pancreas COSM5907361 NSD1 c.7097G>A p.G2366D Substitution - Missense Skin COSM1363344 MBD6 c.2006delC p.P671fs*4 Deletion - Frameshift Large_intestine COSM3596985 ATXN7 c.851C>T p.S284F Substitution - Missense Skin COSM1307310 NCOA6 c.13G>C p.D5H Substitution - Missense Urinary_tract COSM4972145 SMARCD1 c.296G>A p.R99H Substitution - Missense Thyroid COSM1732159 PBRM1 c.773A>T p.N258I Substitution - Missense Kidney COSM5443581 SIRT1 c.1607A>T p.E536V Substitution - Missense Oesophagus COSM302137 EP400 c.8181A>G p.Q2727Q Substitution - coding silent Kidney COSM3823625 ZCWPW2 c.94C>T p.Q32* Substitution - Nonsense Breast COSM3686205 NCOA3 c.3740_3741insGCA p.Q1276_T1277insQ Insertion - In frame Large_intestine COSM4732668 TCF20 c.3083delG p.G1028fs*6 Deletion - Frameshift Biliary_tract COSM1716598 TET2 c.4879C>T p.Q1627* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4735452 TP53BP1 c.2176G>T p.D726Y Substitution - Missense Large_intestine COSM4383717 MECOM c.2062G>A p.A688T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4714173 PHRF1 c.1681C>T p.R561* Substitution - Nonsense Large_intestine COSM4116592 KAT2B c.1667G>A p.G556D Substitution - Missense Stomach COSM161471 HDAC1 c.468C>T p.I156I Substitution - coding silent Skin COSM303846 CREBBP c.5712G>C p.Q1904H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1665792 TAF1L c.5002_5003delAT p.M1668fs*2 Deletion - Frameshift Kidney COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Pancreas COSM78623 TDRD7 c.109G>C p.D37H Substitution - Missense Ovary COSM69123 L3MBTL3 c.2241_2270del30 p.I748_G757del Deletion - In frame Ovary COSM110802 BAP1 c.700_700delG p.V234fs*15 Deletion - Frameshift Pleura COSM87140 TET2 c.3921_3921delG p.K1308fs*55 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM96392 ASXL1 c.1915_1978>13 p.T639_G659>PPWD Complex - deletion inframe Haematopoietic_and_lymphoid_tissue COSM133013 ARID1A c.4743_4744delCA p.I1582fs*20 Deletion - Frameshift Stomach COSM144171 ARID1A c.4270C>T p.Q1424* Substitution - Nonsense Large_intestine COSM144223 ATRX c.4276C>T p.R1426* Substitution - Nonsense Central_nervous_system COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Central_nervous_system COSM41706 TET2 c.4354C>T p.R1452* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM211633 TET2 c.5686A>G p.R1896G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM234249 HDAC3 c.820C>T p.R274* Substitution - Nonsense Liver COSM239627 DNMT1 c.4039G>A p.D1347N Substitution - Missense Prostate COSM254670 EP300 c.6883C>A p.Q2295K Substitution - Missense Urinary_tract COSM302448 JMJD5 c.569C>A p.P190Q Substitution - Missense Central_nervous_system COSM306061 PHF6 c.821G>A p.R274Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM303465 TRRAP c.7294G>A p.A2432T Substitution - Missense Central_nervous_system COSM327313 PHF6 c.346C>T p.R116* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM329606 WHSC1 c.1356G>A p.R452R Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM345104 BRDT c.1736C>A p.P579Q Substitution - Missense Lung COSM386551 HCFC2 c.785G>T p.G262V Substitution - Missense Lung COSM403929 SMYD2 c.297C>A p.N99K Substitution - Missense Lung COSM427842 SFMBT2 c.1449A>C p.Q483H Substitution - Missense Breast COSM430522 HNF1A c.79A>C p.I27L Substitution - Missense Prostate COSM983331 BPTF c.5054G>A p.R1685Q Substitution - Missense Endometrium COSM972740 PRMT7 c.2037C>T p.G679G Substitution - coding silent Endometrium COSM488472 SMC1A c.761A>G p.K254R Substitution - Missense Kidney COSM480625 SETD5_ENST00000402198 c.2398C>A p.P800T Substitution - Missense Kidney COSM684730 JMJD1C c.4517G>T p.G1506V Substitution - Missense Lung COSM1026873 CHD6 c.2862C>T p.D954D Substitution - coding silent Endometrium COSM742195 BRPF3 c.1685C>T p.A562V Substitution - Missense Lung COSM704911 NCOR1 c.6441C>A p.Y2147* Substitution - Nonsense Lung COSM707743 CBX2 c.453G>T p.V151V Substitution - coding silent Lung COSM1602155 ARID1A c.5975C>T p.S1992L Substitution - Missense Liver COSM1107731 SMARCA2 c.2659A>G p.K887E Substitution - Missense Endometrium COSM1131918 EHMT2 c.50C>A p.A17D Substitution - Missense Skin COSM1128960 CREBBP c.4455T>C p.H1485H Substitution - coding silent Prostate COSM1093536 TRRAP c.30G>A p.T10T Substitution - coding silent Endometrium COSM1093690 TRRAP c.8792T>A p.I2931N Substitution - Missense Endometrium COSM1100803 CHD7 c.3398C>T p.T1133M Substitution - Missense Endometrium COSM1180827 GTF3C1 c.2299delA p.S767fs*7 Deletion - Frameshift Large_intestine COSM1163731 ADNP c.3047delA p.K1016fs*11 Deletion - Frameshift Large_intestine COSM1180418 HDAC5 c.2306-1G>A p.? Unknown Prostate COSM1226776 SMARCB1 c.934G>A p.A312T Substitution - Missense Stomach COSM1171779 RAG2 c.406G>T p.A136S Substitution - Missense Oesophagus COSM1315854 EZH2 c.1588C>A p.H530N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1309596 TET2 c.3316G>C p.E1106Q Substitution - Missense Urinary_tract COSM1284496 DIDO1 c.5200G>T p.A1734S Substitution - Missense Autonomic_ganglia COSM1321379 EPC1 c.851C>G p.S284C Substitution - Missense Ovary COSM1388970 MBD1 c.1303A>G p.T435A Substitution - Missense Stomach COSM1421142 FXR1 c.1022A>C p.K341T Substitution - Missense Large_intestine COSM1423638 DHX30 c.161A>G p.K54R Substitution - Missense Large_intestine COSM1433315 BRD8 c.3120+2T>C p.? Unknown Large_intestine COSM1461443 EHMT1 c.3368A>T p.E1123V Substitution - Missense Large_intestine COSM1449442 KMT2C c.4929G>T p.E1643D Substitution - Missense Large_intestine COSM1341909 PHC2 c.771C>T p.G257G Substitution - coding silent Large_intestine COSM1351669 KMT2A c.10266G>A p.A3422A Substitution - coding silent Large_intestine COSM1559374 HNF1A c.1545G>C p.T515T Substitution - coding silent Central_nervous_system COSM1490466 SMARCA1 c.2665G>T p.G889C Substitution - Missense Breast COSM1611528 SMARCA4 c.3574C>G p.R1192G Substitution - Missense Liver COSM1631779 IDH1 c.145C>T p.R49C Substitution - Missense Liver COSM1632322 NCOA5 c.629+4A>G p.? Unknown Liver COSM1680761 BRD4 c.359G>A p.W120* Substitution - Nonsense Large_intestine COSM1644699 KDM6A c.4124T>C p.L1375P Substitution - Missense Salivary_gland COSM1716678 ATRX c.3147_3148delAA p.I1049fs*3 Deletion - Frameshift Central_nervous_system COSM1757273 SMC1A c.2266C>T p.Q756* Substitution - Nonsense Urinary_tract COSM1743816 MSL3 c.520A>G p.I174V Substitution - Missense Biliary_tract COSM2156715 PRDM13 c.1992C>T p.D664D Substitution - coding silent Central_nervous_system COSM2874597 NCOA2 c.2808C>T p.S936S Substitution - coding silent Large_intestine COSM2874656 NCOA2 c.847C>T p.L283L Substitution - coding silent Large_intestine COSM2909113 HDAC4 c.2804C>T p.A935V Substitution - Missense Large_intestine COSM2950140 BRPF1 c.3227G>A p.R1076Q Substitution - Missense Large_intestine COSM3108944 GTF3C1 c.1011G>T p.K337N Substitution - Missense Large_intestine COSM3358948 KAT6B c.3798G>C p.K1266N Substitution - Missense Kidney COSM3365445 TET2 c.5142T>G p.N1714K Substitution - Missense Kidney COSM3377999 CDYL2 c.1308G>A p.T436T Substitution - coding silent Pancreas COSM3383472 PRDM11 c.282C>T p.R94R Substitution - coding silent Pancreas COSM3423806 DIDO1 c.5440C>T p.Q1814* Substitution - Nonsense Large_intestine COSM3438379 ERCC6 c.3168C>T p.F1056F Substitution - coding silent Skin COSM3469195 SETDB2 c.1836T>C p.D612D Substitution - coding silent Skin COSM3464424 ING4 c.576C>T p.P192P Substitution - coding silent Skin COSM3458224 EP400 c.2112C>T p.S704S Substitution - coding silent Skin COSM3622982 PHF10 c.808C>T p.P270S Substitution - Missense Skin COSM3615227 PRDM9 c.2569G>A p.E857K Substitution - Missense Skin COSM3523282 CHD3 c.3408C>T p.T1136T Substitution - coding silent Skin COSM3694652 PHF8 c.1599G>T p.L533L Substitution - coding silent Large_intestine COSM3704481 ARID1A c.2272C>T p.Q758* Substitution - Nonsense Liver COSM3717557 BPTF c.8262-10G>T p.? Unknown Liver COSM3731965 EYA2 c.805C>T p.R269C Substitution - Missense Stomach COSM3736917 NIPBL c.2021A>G p.N674S Substitution - Missense Breast COSM3785863 ATAD2 c.488G>A p.R163H Substitution - Missense Pancreas COSM3832368 KMT2C c.4174C>T p.Q1392* Substitution - Nonsense Breast COSM3909082 PHF2 c.2687G>T p.R896M Substitution - Missense Stomach COSM3925753 TDRD7 c.2001C>T p.L667L Substitution - coding silent Skin COSM3874515 TDRD6 c.1063A>G p.S355G Substitution - Missense Stomach COSM4029313 ACTA1 c.738C>T p.D246D Substitution - coding silent Stomach COSM4015549 SFMBT2 c.600T>C p.P200P Substitution - coding silent Stomach COSM4013510 ZMYND11 c.270G>C p.E90D Substitution - Missense Stomach COSM4008365 DMAP1 c.857G>A p.R286H Substitution - Missense Stomach COSM4043664 BAZ2A c.4652T>C p.L1551P Substitution - Missense Stomach COSM4054577 MGA c.8280G>A p.V2760V Substitution - coding silent Stomach COSM4110127 SMC1A c.1486C>T p.R496C Substitution - Missense Stomach COSM4120707 MINA c.290G>A p.G97E Substitution - Missense Stomach COSM4060701 CREBBP c.4981A>G p.M1661V Substitution - Missense Stomach COSM4059645 GTF3C1 c.4591C>T p.R1531W Substitution - Missense Stomach COSM4169721 DNMT3A c.976C>T p.R326C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4186696 ARID1B c.2265delT p.G756fs*18 Deletion - Frameshift Kidney COSM4383525 DNMT3A c.2576delT p.L859fs*22 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4389565 KMT2C c.10112C>A p.S3371* Substitution - Nonsense Pancreas COSM4529345 KMT2A c.1603G>A p.E535K Substitution - Missense Skin COSM4579032 CREBBP c.3611A>T p.Y1204F Substitution - Missense Bone COSM4427091 BAZ2A_ENST00000379441 c.2179C>G p.Q727E Substitution - Missense Oesophagus COSM4573885 BTAF1 c.5268C>T p.T1756T Substitution - coding silent Bone COSM4717870 PRMT2 c.495C>T p.Y165Y Substitution - coding silent Prostate COSM4726196 SIRT2 c.906C>T p.G302G Substitution - coding silent Large_intestine COSM4694046 KAT5 c.197G>A p.S66N Substitution - Missense Large_intestine COSM4616445 EP400 c.4229C>T p.S1410L Substitution - Missense Large_intestine COSM4637900 KDM3A c.3919G>A p.A1307T Substitution - Missense Large_intestine COSM4793547 MECOM c.132C>T p.C44C Substitution - coding silent Liver COSM4800152 DIDO1 c.2959G>C p.D987H Substitution - Missense Liver COSM4789955 TDG c.69A>T p.Q23H Substitution - Missense Liver COSM4932888 ATRX c.2503A>T p.R835* Substitution - Nonsense Liver COSM4916107 DPF2 c.536G>A p.R179H Substitution - Missense Liver COSM4855999 KDM4A c.2807C>A p.S936Y Substitution - Missense Cervix COSM4822333 POGZ c.2321C>G p.S774C Substitution - Missense Cervix COSM4819243 TRIM33 c.3363G>C p.E1121D Substitution - Missense Cervix COSM4949832 POGZ c.1463C>G p.P488R Substitution - Missense Liver COSM5036521 NIPBL c.3139G>T p.V1047L Substitution - Missense Oesophagus COSM5009880 NCOA6 c.2602T>C p.C868R Substitution - Missense Large_intestine COSM5037529 BAZ2B c.5537A>T p.E1846V Substitution - Missense Skin COSM5392254 EYA2 c.490C>T p.P164S Substitution - Missense Skin COSM5394608 BAZ2B c.4112C>A p.S1371* Substitution - Nonsense Skin COSM5410983 TAF1L c.3359G>A p.G1120E Substitution - Missense Skin COSM5501626 KMT2C c.14416C>A p.R4806R Substitution - coding silent Biliary_tract COSM5472894 PHF8 c.2457G>T p.L819L Substitution - coding silent Large_intestine COSM5477276 JMJD1C c.4662C>A p.F1554L Substitution - Missense Large_intestine COSM5623110 KMT2D c.10685C>T p.S3562F Substitution - Missense Oesophagus COSM5751935 TDRD6 c.151C>AC p.Q51fs*109 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM5724815 HDAC9 c.491C>T p.P164L Substitution - Missense Skin COSM5721608 PWWP2B c.1669C>T p.R557C Substitution - Missense Skin COSM5583436 DIDO1 c.1527C>A p.H509Q Substitution - Missense Skin COSM5694858 KMT2C c.4547delG p.G1516fs*47 Deletion - Frameshift Soft_tissue COSM5701331 SMCHD1 c.3843_3844insCACC p.T1282fs*7 Insertion - Frameshift Soft_tissue COSM5666120 CDYL c.1690G>T p.E564* Substitution - Nonsense Soft_tissue COSM5708961 TET2 c.2798_2801delAGGG p.G934fs*18 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5778581 CAMKMT c.85G>T p.G29W Substitution - Missense Breast COSM5878796 DNMT3A c.1906G>T p.V636L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5799663 ZMYND11 c.1006G>T p.E336* Substitution - Nonsense Breast COSM5803110 KDM4A c.1856-2A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5811451 KDM2A c.49A>G p.T17A Substitution - Missense Liver COSM5797666 BRPF3 c.929T>C p.I310T Substitution - Missense Breast COSM5945313 IDH2 c.407A>G p.N136S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5937538 EP400 c.7096G>T p.D2366Y Substitution - Missense Skin COSM5899415 SP110 c.236C>T p.S79F Substitution - Missense Skin COSM5955855 MUM1 c.60+1G>A p.? Unknown Upper_aerodigestive_tract COSM5954856 CTCF c.934C>T p.H312Y Substitution - Missense Upper_aerodigestive_tract COSM5986590 SETD2 c.4662_4663insAT p.N1555fs*90 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5999734 KDM2A c.2607T>C p.S869S Substitution - coding silent Prostate COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM1738032 ASXL1 c.? p.S852* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM4989856 IKZF1 c.? p.R143Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM166348 DNMT3A c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM41648 TET2 c.? p.N1641I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM3727926 ARID1A c.4716C>G p.Y1572* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5435222 ATRX c.1227G>T p.L409F Substitution - Missense Oesophagus COSM5002949 PRMT1 c.412G>A p.E138K Substitution - Missense Pancreas COSM4436350 SUV420H1 c.1184G>C p.R395P Substitution - Missense Oesophagus COSM915022 TDRD1 c.2039T>C p.V680A Substitution - Missense Endometrium COSM2909078 ATAD2B_ENST00000238789 c.4331T>C p.V1444A Substitution - Missense Large_intestine COSM925902 PRMT3 c.834G>A p.A278A Substitution - coding silent Endometrium COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM123565 HELLS c.1136T>G p.L379R Substitution - Missense Upper_aerodigestive_tract COSM4006946 CHD7 c.1383T>A p.F461L Substitution - Missense Urinary_tract COSM438302 L3MBTL4 c.1259G>A p.R420H Substitution - Missense Soft_tissue COSM937188 EP400 c.8152C>T p.L2718F Substitution - Missense Endometrium COSM3961341 BAZ2B c.1879G>C p.E627Q Substitution - Missense Lung COSM5136933 CREBBP c.3307C>T p.R1103* Substitution - Nonsense Skin COSM4610547 PRMT8 c.787G>A p.V263M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5960569 KDM5A c.879C>T p.L293L Substitution - coding silent Breast COSM4384158 MLL5 c.3443C>T p.P1148L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM324831 BRWD1 c.4486A>T p.I1496F Substitution - Missense Lung COSM5024259 ATRX c.638C>G p.S213* Substitution - Nonsense Bone COSM5504009 TDRD3 c.1523G>T p.G508V Substitution - Missense Biliary_tract COSM41644 TET2 c.1648C>T p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3662908 SND1 c.527T>G p.L176R Substitution - Missense Liver COSM4605375 EP300 c.4368G>C p.K1456N Substitution - Missense Upper_aerodigestive_tract COSM5347106 ARID1A c.4432C>T p.P1478S Substitution - Missense Endometrium COSM5052541 SETDB1 c.1028_1029insC p.M345fs*13 Insertion - Frameshift Stomach COSM1659603 SMARCA2 c.624G>C p.G208G Substitution - coding silent Kidney COSM4518557 CREBBP c.6967_6968GG>AA p.G2323K Substitution - Missense Skin COSM230133 KMT2C c.1173C>A p.C391* Substitution - Nonsense Bone COSM2801190 PHF12 c.1653C>T p.H551H Substitution - coding silent Large_intestine COSM5719425 TDRD5 c.2886G>T p.R962R Substitution - coding silent Skin COSM1491237 ZMYM3 c.3634C>G p.L1212V Substitution - Missense Breast COSM1414362 DNMT3L c.547C>T p.P183S Substitution - Missense Large_intestine COSM4020860 TRIM33 c.1696-1G>A p.? Unknown Stomach COSM5719425 TDRD5 c.2886G>T p.R962R Substitution - coding silent Skin COSM1103012 TDRD7 c.1950C>T p.D650D Substitution - coding silent Endometrium COSM1017663 SP100 c.2242G>T p.E748* Substitution - Nonsense Endometrium COSM1685689 ARID2 c.1651delT p.S551fs*6 Deletion - Frameshift Skin COSM4411206 SCMH1 c.1058C>T p.A353V Substitution - Missense Kidney COSM1469431 ATRX c.7053G>T p.E2351D Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM255216 MEN1 c.? p.G99S Substitution - Missense Lung COSM5369010 ZMYM2 c.1134-1delG p.? Unknown Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM1095776 ATAD2 c.415G>A p.V139I Substitution - Missense Endometrium COSM4980160 BRD1 c.80C>T p.T27M Substitution - Missense Oesophagus COSM3691040 CHD9 c.76G>A p.A26T Substitution - Missense Large_intestine COSM43417 TET2 c.2746C>T p.Q916* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3722547 KMT2D c.1111A>G p.R371G Substitution - Missense Upper_aerodigestive_tract COSM41292 IDH1 c.? p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4426175 PRDM2 c.3623A>G p.Q1208R Substitution - Missense Oesophagus COSM957509 ARID2 c.2833C>T p.Q945* Substitution - Nonsense Lung COSM3686845 SFMBT2 c.2273G>A p.R758Q Substitution - Missense Large_intestine COSM5799002 ACTR8 c.1145G>A p.G382E Substitution - Missense Breast COSM360815 GTF3C1 c.3763C>T p.L1255L Substitution - coding silent Lung COSM5985560 SRCAP c.5598_5600delGTT p.F1867delF Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM53019 EZH2 c.1967C>T p.A656V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4002744 PBRM1 c.4335A>G p.P1445P Substitution - coding silent Soft_tissue COSM4169849 DAXX c.? p.H620fs*37 Unknown Adrenal_gland COSM144632 PHF6 c.? p.A40G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1099591 WHSC1L1 c.1168T>C p.Y390H Substitution - Missense Endometrium COSM478004 ASXL1 c.4622G>C p.R1541T Substitution - Missense Kidney COSM2909160 HDAC4 c.998T>C p.L333P Substitution - Missense Lung COSM3951681 MYST3 c.4790G>A p.S1597N Substitution - Missense Lung COSM4791692 HNF1A c.590A>C p.K197T Substitution - Missense Liver COSM3750192 PHF2 c.2964G>T p.P988P Substitution - coding silent Large_intestine COSM1239175 JARID2 c.1266delG p.R425fs*36 Deletion - Frameshift Large_intestine COSM4643745 BAZ2A c.5502T>G p.D1834E Substitution - Missense Large_intestine COSM3780043 KDM4C c.807C>T p.F269F Substitution - coding silent Urinary_tract COSM5990554 NCOA3 c.3947-10delT p.? Unknown Liver COSM1194937 HDAC1 c.229C>T p.R77C Substitution - Missense Lung COSM1084039 PHF14 c.514G>A p.A172T Substitution - Missense Endometrium COSM50664 PRDM9 c.1567A>G p.K523E Substitution - Missense Large_intestine COSM4072477 CXXC1 c.493T>A p.S165T Substitution - Missense Stomach COSM5737495 HDGFL1 c.91C>T p.H31Y Substitution - Missense Small_intestine COSM5615702 CDYL c.95G>T p.R32I Substitution - Missense Lung COSM255112 MEN1 c.230_230delA p.Y77fs*42 Deletion - Frameshift Parathyroid COSM3918708 KDM3B c.3015G>A p.E1005E Substitution - coding silent Skin COSM743053 PHIP c.2873C>A p.P958Q Substitution - Missense Lung COSM703021 CREBBP c.682A>G p.T228A Substitution - Missense Lung COSM988390 SETBP1 c.3367A>G p.M1123V Substitution - Missense Endometrium COSM3808493 KMT2A c.9855C>T p.I3285I Substitution - coding silent Breast COSM3866849 PWWP2B c.352C>T p.P118S Substitution - Missense Skin COSM4848070 ARID1A c.1528C>T p.Q510* Substitution - Nonsense Cervix COSM205448 ZBTB38 c.36C>T p.D12D Substitution - coding silent Large_intestine COSM4080505 KDM4B c.1862G>A p.R621Q Substitution - Missense Stomach COSM5882746 CTCF c.912A>T p.R304S Substitution - Missense Breast COSM4970520 PHIP c.5227C>T p.R1743* Substitution - Nonsense Central_nervous_system COSM5455343 BRD8 c.160C>T p.R54C Substitution - Missense Large_intestine COSM135770 BPTF c.647C>T p.S216F Substitution - Missense Skin COSM3953717 SUV420H1 c.730A>G p.R244G Substitution - Missense Lung COSM3359626 EP400 c.2142C>A p.P714P Substitution - coding silent Kidney COSM1606148 ARID2 c.4938C>T p.P1646P Substitution - coding silent Liver COSM42986 TRRAP c.5805G>A p.E1935E Substitution - coding silent Central_nervous_system COSM4889661 SMYD1 c.174G>T p.R58S Substitution - Missense Upper_aerodigestive_tract COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5818631 BAZ2B c.5796+2T>C p.? Unknown Liver COSM4852756 CHRAC1 c.367G>C p.E123Q Substitution - Missense Cervix COSM5429861 SCMH1 c.1615C>G p.Q539E Substitution - Missense Oesophagus COSM4172497 TET2 c.? p.P1723S Substitution - Missense Skin COSM744135 PHF14 c.2004A>G p.L668L Substitution - coding silent Lung COSM248024 TRRAP c.8842G>T p.D2948Y Substitution - Missense Prostate COSM5353160 PRMT6 c.387C>T p.S129S Substitution - coding silent Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4159840 PRDM9 c.2191A>G p.N731D Substitution - Missense Thyroid COSM1755792 EYA1 c.230G>A p.R77Q Substitution - Missense Urinary_tract COSM3985520 SUV39H2 c.491C>T p.T164I Substitution - Missense Kidney COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4679238 DPF2 c.238C>T p.R80W Substitution - Missense Large_intestine COSM4508185 CHD9 c.7736C>T p.P2579L Substitution - Missense Skin COSM4770328 SMARCA4 c.1583G>A p.R528Q Substitution - Missense Adrenal_gland COSM215429 SIRT1 c.1945C>T p.R649C Substitution - Missense Central_nervous_system COSM4571035 MECOM c.3143T>C p.I1048T Substitution - Missense Skin COSM750345 MYST3 c.4532A>T p.Q1511L Substitution - Missense Lung COSM1201019 CHD9 c.5381G>A p.R1794H Substitution - Missense Prostate COSM4541967 BRPF3 c.30G>A p.Q10Q Substitution - coding silent Cervix COSM4938823 SHPRH c.2228T>C p.L743P Substitution - Missense Liver COSM2161491 SFMBT2 c.375C>T p.I125I Substitution - coding silent Skin COSM937175 EP400 c.6314C>T p.P2105L Substitution - Missense Endometrium COSM4943594 DNMT3A c.325G>T p.G109W Substitution - Missense Liver COSM463501 TDRD5 c.2596C>T p.P866S Substitution - Missense Kidney COSM1694318 GABRG1 c.98G>A p.G33E Substitution - Missense Skin COSM975874 NCOR1 c.3932G>A p.G1311D Substitution - Missense Endometrium COSM1361136 KDM5A c.3982G>A p.V1328M Substitution - Missense Large_intestine COSM3954022 ACTR6 c.790G>A p.G264R Substitution - Missense Lung COSM4832131 SMARCB1 c.52C>T p.Q18* Substitution - Nonsense Cervix COSM4769597 AP001011.3_ENST00000320876 c.4312G>C p.D1438H Substitution - Missense Biliary_tract COSM473480 KDM6B c.2635G>T p.A879S Substitution - Missense Kidney COSM2781081 ACTR8 c.456G>A p.S152S Substitution - coding silent Large_intestine COSM4161996 KMT2C c.2763A>G p.L921L Substitution - coding silent Liver COSM109835 MECOM c.64C>T p.R22C Substitution - Missense Skin COSM41293 IDH1 c.? p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM415945 EP400 c.2985C>G p.L995L Substitution - coding silent Urinary_tract COSM1370238 ARID4A c.2607A>T p.I869I Substitution - coding silent Upper_aerodigestive_tract COSM5891807 GABRG1 c.659G>A p.W220* Substitution - Nonsense Skin COSM87161 TET2 c.4138C>T p.H1380Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5152315 EHMT2 c.2772G>A p.R924R Substitution - coding silent Large_intestine COSM1441812 ARID1B c.1934C>T p.A645V Substitution - Missense Large_intestine COSM1677121 MBD6 c.347G>T p.S116I Substitution - Missense Large_intestine COSM4140070 INO80C c.576C>A p.P192P Substitution - coding silent Ovary COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM287590 TIF1 c.3002C>T p.P1001L Substitution - Missense Large_intestine COSM1209179 GTF3C4 c.507G>A p.W169* Substitution - Nonsense Large_intestine COSM452674 KMT2C c.13168delC p.K4391fs*22 Deletion - Frameshift Breast COSM403944 RTF1 c.827G>T p.R276L Substitution - Missense Soft_tissue COSM445983 TBL1XR1 c.1145A>G p.N382S Substitution - Missense Breast COSM4717526 PRDM9 c.1667A>G p.E556G Substitution - Missense Large_intestine COSM86979 IKZF1 c.41-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM255008 KDM6A c.1528-1G>C p.? Unknown Urinary_tract COSM3033690 MECP2 c.342C>T p.G114G Substitution - coding silent Large_intestine COSM5933479 PRDM7 c.441G>A p.R147R Substitution - coding silent Skin COSM3821364 ASXL3 c.2122C>T p.Q708* Substitution - Nonsense Breast COSM347611 BRWD1 c.5327C>T p.S1776L Substitution - Missense Lung COSM1502574 ARID1A c.4735C>T p.Q1579* Substitution - Nonsense Endometrium COSM1671588 NIPBL c.5668G>T p.V1890L Substitution - Missense Central_nervous_system COSM5644974 CHD3 c.3564G>A p.A1188A Substitution - coding silent Oesophagus COSM3911154 NCOA6 c.2851G>A p.E951K Substitution - Missense Skin COSM1073481 EYA4 c.454C>A p.L152I Substitution - Missense Endometrium COSM3622287 ARID1B c.4631C>T p.S1544F Substitution - Missense Skin COSM3402638 RAI1 c.1558G>A p.G520S Substitution - Missense Central_nervous_system COSM308046 HDAC4 c.1633C>T p.P545S Substitution - Missense Skin COSM3568260 BAZ2B c.3477A>C p.K1159N Substitution - Missense Skin COSM42016 TET2 c.4393C>T p.R1465* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5416367 BAZ2A c.2553delG p.M851fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3660042 UTY c.1525C>A p.P509T Substitution - Missense Liver COSM5549122 CBX4 c.650C>T p.A217V Substitution - Missense Prostate COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1107167 EHMT1 c.244G>A p.D82N Substitution - Missense Endometrium COSM3551835 PRMT2 c.337T>C p.L113L Substitution - coding silent Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4790088 CHD7 c.1124A>G p.Q375R Substitution - Missense Liver COSM3844200 RBBP7 c.88C>A p.L30I Substitution - Missense Breast COSM5804801 RERE c.570A>T p.Q190H Substitution - Missense Liver COSM76638 SUV420H1 c.2008C>A p.P670T Substitution - Missense Ovary COSM5547541 KMT2C c.6125_6134del10 p.P2042fs*33 Deletion - Frameshift Prostate COSM3370749 HDAC5 c.964C>G p.P322A Substitution - Missense Thyroid COSM370296 TAF1L c.262_263GG>TC p.G88>? Complex Lung COSM3430714 TDRD6 c.5000T>G p.I1667R Substitution - Missense Large_intestine COSM3087117 BAZ1B c.4346A>G p.Y1449C Substitution - Missense Large_intestine COSM3912232 DNMT3L c.208G>A p.G70R Substitution - Missense Skin COSM4393836 MBD5 c.2839G>A p.G947R Substitution - Missense Skin COSM255050 ARID1A c.5606delG p.P1870fs*13 Deletion - Frameshift Urinary_tract COSM486472 MYST3 c.1988T>C p.I663T Substitution - Missense Kidney COSM3704693 TDRD3 c.1467T>C p.S489S Substitution - coding silent Liver COSM5638764 ZMYM6 c.1063-1G>C p.? Unknown Oesophagus COSM4119247 SFMBT1 c.2331G>T p.K777N Substitution - Missense Stomach COSM5597078 MECOM c.1240G>A p.E414K Substitution - Missense Skin COSM3400685 PRDM16 c.2067C>T p.A689A Substitution - coding silent Central_nervous_system COSM88673 SMARCA4 c.3306C>G p.F1102L Substitution - Missense Ovary COSM107151 BRWD1 c.4795C>T p.R1599* Substitution - Nonsense Skin COSM1027549 NCOA3 c.4172G>A p.S1391N Substitution - Missense Endometrium COSM4059638 GTF3C1 c.5587C>T p.R1863C Substitution - Missense Stomach COSM319437 CHD8 c.6289G>A p.E2097K Substitution - Missense Lung COSM4884937 BAHD1 c.178C>A p.R60S Substitution - Missense Upper_aerodigestive_tract COSM2848367 GABRG1 c.1277C>A p.S426Y Substitution - Missense Large_intestine COSM4725326 SFMBT2 c.713A>G p.Y238C Substitution - Missense Large_intestine COSM1983008 LMNA c.858G>A p.G286G Substitution - coding silent Stomach COSM1630720 MUM1 c.1150T>G p.S384A Substitution - Missense Liver COSM4098440 CHD6 c.6640G>A p.E2214K Substitution - Missense Stomach COSM1602148 ARID1A c.3972delC p.P1326fs*155 Deletion - Frameshift Large_intestine COSM231554 DNMT3A c.1741T>C p.W581R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4385661 KDM5A c.3363_3364insAGA p.R1121_D1122insR Insertion - In frame Haematopoietic_and_lymphoid_tissue COSM5377351 TTF2 c.3301C>G p.R1101G Substitution - Missense Skin COSM240808 KAT6B c.2629A>T p.S877C Substitution - Missense Prostate COSM5570403 PHF8 c.2554A>G p.T852A Substitution - Missense Prostate COSM5599661 HDAC1 c.234C>T p.S78S Substitution - coding silent Skin COSM4732000 TAF3 c.1503T>C p.T501T Substitution - coding silent Large_intestine COSM52947 IDH2 c.? p.R172? Substitution - Missense Bone COSM5729596 PHF20 c.472T>G p.S158A Substitution - Missense Skin COSM118124 BAG6 c.3204C>T p.A1068A Substitution - coding silent Ovary COSM4425450 SETBP1 c.3774A>T p.S1258S Substitution - coding silent Oesophagus COSM5740650 CHD9 c.1619G>A p.R540H Substitution - Missense Small_intestine COSM88763 CREBBP c.4078C>T p.R1360* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4496811 TET2 c.4832C>T p.S1611F Substitution - Missense Skin COSM1732193 PBRM1 c.715-1G>C p.? Unknown Kidney COSM5943473 TRIM28 c.1445delT p.M482fs*7 Deletion - Frameshift Skin COSM969938 SRCAP c.5995C>T p.L1999L Substitution - coding silent Endometrium COSM5991798 PHF10 c.291_293delACA p.Q98delQ Deletion - In frame Prostate COSM3996044 ASH2L c.163C>T p.P55S Substitution - Missense Kidney COSM576304 SMYD1 c.1368C>A p.F456L Substitution - Missense Large_intestine COSM4533201 SP140_ENST00000392045 c.1955G>A p.R652Q Substitution - Missense Skin COSM3923212 KMT2C c.983C>T p.P328L Substitution - Missense Skin COSM4642983 NSD1 c.5580C>T p.D1860D Substitution - coding silent Large_intestine COSM1107699 SMARCA2 c.1150C>T p.R384W Substitution - Missense Endometrium COSM1644510 CREBBP c.1187C>G p.T396R Substitution - Missense Salivary_gland COSM940299 SMARCD1 c.974T>C p.L325S Substitution - Missense Endometrium COSM1293702 AP001011.3_ENST00000320876 c.2104G>C p.E702Q Substitution - Missense Cervix COSM464628 SCMH1 c.157G>A p.D53N Substitution - Missense Kidney COSM5998104 ASH2L c.916G>T p.G306W Substitution - Missense Prostate COSM5792644 SP140_ENST00000392045 c.715C>T p.P239S Substitution - Missense Breast COSM1255154 JARID2 c.880C>T p.R294W Substitution - Missense Pancreas COSM1116470 FMR1 c.1324C>T p.R442* Substitution - Nonsense Central_nervous_system COSM88749 CREBBP c.4336C>T p.R1446C Substitution - Missense Lung COSM3214149 BRD3 c.101G>A p.R34H Substitution - Missense Stomach COSM3639802 ACTB c.340G>A p.A114T Substitution - Missense Skin COSM5371777 KMT2A c.6392C>T p.S2131F Substitution - Missense Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1377474 SRCAP c.5625_5626insC p.P1879fs*21 Insertion - Frameshift Large_intestine COSM912522 RERE c.1825A>G p.S609G Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1362212 SMARCD1 c.879C>T p.H293H Substitution - coding silent Large_intestine COSM1635382 BAZ1B c.3317A>T p.K1106M Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4433200 BRWD1 c.3111A>G p.K1037K Substitution - coding silent Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM228110 KMT2C c.1042G>A p.D348N Substitution - Missense Soft_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM53311 IDH2 c.? p.R140W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5455167 ACTL6A c.950T>C p.L317S Substitution - Missense Large_intestine COSM1969487 BTAF1 c.3430_3431insT p.L1146fs*12 Insertion - Frameshift Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM208335 TBL1XR1 c.1177G>T p.E393* Substitution - Nonsense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM452875 STK31 c.290G>A p.R97K Substitution - Missense Breast COSM1623573 ATAD2 c.843A>T p.E281D Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM271007 ARID1A c.2306C>A p.S769* Substitution - Nonsense Large_intestine COSM3596985 ATXN7 c.851C>T p.S284F Substitution - Missense Skin COSM245703 KMT2A c.11521C>T p.R3841W Substitution - Missense Prostate COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3675996 KMT2A c.2331T>C p.S777S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5611986 GTF3C1 c.2429T>A p.L810H Substitution - Missense Adrenal_gland COSM1342127 ZMYM4 c.1282delA p.K430fs*6 Deletion - Frameshift Large_intestine COSM228521 TAF3 c.211C>T p.Q71* Substitution - Nonsense Skin COSM76526 SMARCB1 c.784G>A p.V262I Substitution - Missense Ovary COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM1407122 DNMT3A c.274G>A p.D92N Substitution - Missense Large_intestine COSM302137 EP400 c.8181A>G p.Q2727Q Substitution - coding silent Kidney COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM5915567 PHIP c.2440A>T p.N814Y Substitution - Missense Skin COSM3954777 ARID2 c.400C>T p.Q134* Substitution - Nonsense Lung COSM5988348 GATAD2B c.568C>G p.Q190E Substitution - Missense Salivary_gland COSM4042354 KMT2D c.11741G>A p.G3914D Substitution - Missense Stomach COSM1245454 ARID2 c.1624C>T p.R542* Substitution - Nonsense Central_nervous_system COSM4110225 PHF8 c.1660G>A p.D554N Substitution - Missense Stomach COSM4531832 TDRD1 c.182G>A p.G61E Substitution - Missense Skin COSM1187988 BTAF1 c.1333G>T p.D445Y Substitution - Missense Lung COSM4694961 KDM4B c.177G>A p.T59T Substitution - coding silent Large_intestine COSM219133 DNMT3A c.2245C>T p.R749C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3848656 KDM4C c.438T>G p.G146G Substitution - coding silent Breast COSM88777 EP300 c.1519A>G p.S507G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3620905 SIRT5 c.895G>A p.E299K Substitution - Missense Skin COSM1449831 HDAC9 c.1661_1667delCAGTGGA p.D556fs*46 Deletion - Frameshift Large_intestine COSM3614518 NSD1 c.7519G>A p.G2507S Substitution - Missense Skin COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43420 TET2 c.4546C>T p.R1516* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM85911 IKZF1 c.161-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM46457 TET2 c.3708_3716del9 p.P1237_S1239del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM83884 ARID1A c.3826C>T p.R1276* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM51418 ARID1A c.5164C>T p.R1722* Substitution - Nonsense Endometrium COSM50881 BAP1 c.781C>T p.Q261* Substitution - Nonsense Eye COSM96511 EP300 c.3040G>T p.E1014* Substitution - Nonsense Large_intestine COSM112087 TDG c.286_287insA p.I98fs*6 Insertion - Frameshift Upper_aerodigestive_tract COSM96442 EP300 c.4401_4402insA p.M1470fs*3 Insertion - Frameshift Large_intestine COSM137783 VPS72 c.436C>T p.L146F Substitution - Missense Skin COSM177558 ASH1L c.161G>A p.R54Q Substitution - Missense Large_intestine COSM211670 TET2 c.1756_1757insT p.P587fs*51 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM215433 SFMBT2 c.2071C>T p.R691W Substitution - Missense Central_nervous_system COSM213006 TAF1L c.5070G>T p.L1690F Substitution - Missense Breast COSM287385 MGA c.7423C>G p.R2475G Substitution - Missense Large_intestine COSM302662 KMT2C c.4793+1G>C p.? Unknown Central_nervous_system COSM315861 TDRD7 c.1297G>T p.E433* Substitution - Nonsense Lung COSM325479 HDAC4 c.2635G>A p.E879K Substitution - Missense Lung COSM341551 KIAA1045 c.414C>A p.V138V Substitution - coding silent Lung COSM352712 SMARCA4 c.1812+1G>T p.? Unknown Lung COSM386047 ZMYM4 c.3780A>G p.S1260S Substitution - coding silent Lung COSM381882 HDAC7 c.1028G>T p.R343L Substitution - Missense Lung COSM420283 SETD5_ENST00000402198 c.922C>T p.R308* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM457717 KDM5C c.2955G>A p.E985E Substitution - coding silent Breast COSM468844 YEATS4 c.66T>G p.V22V Substitution - coding silent Kidney COSM479396 MBD4 c.1709T>C p.L570P Substitution - Missense Kidney COSM488408 HDAC6 c.2562G>A p.K854K Substitution - coding silent Kidney COSM480290 BAP1 c.233A>G p.N78S Substitution - Missense Upper_aerodigestive_tract COSM486561 CHD7 c.2662A>T p.M888L Substitution - Missense Kidney COSM1054416 WHSC1 c.205G>A p.D69N Substitution - Missense Endometrium COSM1030947 PRDM15 c.1512C>T p.S504S Substitution - coding silent Endometrium COSM1025785 DNMT3B c.317G>A p.R106Q Substitution - Missense Biliary_tract COSM725153 BRWD1 c.4694G>T p.G1565V Substitution - Missense Lung COSM731062 PBRM1 c.1782C>T p.F594F Substitution - coding silent Lung COSM913245 BRDT c.2274T>C p.I758I Substitution - coding silent Endometrium COSM907715 ARID1A c.3762C>T p.G1254G Substitution - coding silent Endometrium COSM913369 MTF2 c.1160+2T>C p.? Unknown Endometrium COSM905723 KDM1A c.2455C>T p.R819* Substitution - Nonsense Endometrium COSM1008150 BAZ2B c.4863G>T p.Q1621H Substitution - Missense Endometrium COSM1040970 MECOM c.622C>T p.R208C Substitution - Missense Endometrium COSM1114017 ZBTB33 c.42C>A p.Y14* Substitution - Nonsense Endometrium COSM1134719 ASH1L c.7733A>G p.D2578G Substitution - Missense Kidney COSM1131106 CLOCK c.1764T>C p.N588N Substitution - coding silent Prostate COSM4032949 PHF21A c.315C>T p.H105H Substitution - coding silent Stomach COSM1103015 TDRD7 c.2850C>T p.S950S Substitution - coding silent Endometrium COSM1087438 SMARCD3 c.428A>C p.K143T Substitution - Missense Endometrium COSM1087596 KMT2C c.5717G>A p.R1906Q Substitution - Missense Endometrium COSM1101387 PRDM14 c.1710C>G p.D570E Substitution - Missense Endometrium COSM1240901 BPTF c.5710G>A p.V1904M Substitution - Missense Oesophagus COSM1248199 CHD2 c.3569A>G p.E1190G Substitution - Missense Oesophagus COSM1266235 SMARCA4 c.4243C>T p.R1415* Substitution - Nonsense Biliary_tract COSM1225436 SFMBT2 c.376G>A p.A126T Substitution - Missense Large_intestine COSM1159327 EPC1 c.544A>G p.R182G Substitution - Missense Pancreas COSM1312271 TDRD6 c.5052G>C p.L1684F Substitution - Missense Urinary_tract COSM1299679 BAZ2A_ENST00000379441 c.3409G>T p.E1137* Substitution - Nonsense Urinary_tract COSM1419213 HDAC11 c.1019C>T p.P340L Substitution - Missense Large_intestine COSM1429109 WHSC1 c.3905C>T p.S1302L Substitution - Missense Skin COSM1466690 HCFC1 c.3927G>A p.A1309A Substitution - coding silent Large_intestine COSM1440683 SIRT5 c.657C>T p.H219H Substitution - coding silent Urinary_tract COSM1341895 PRDM16 c.3589G>A p.D1197N Substitution - Missense Large_intestine COSM1339913 ACTA1 c.808G>A p.G270S Substitution - Missense Large_intestine COSM1352573 PRDM10 c.857T>G p.F286C Substitution - Missense Large_intestine COSM1348888 SFMBT2 c.1680C>T p.C560C Substitution - coding silent Biliary_tract COSM1363744 CHD4 c.4214C>T p.A1405V Substitution - Missense Large_intestine COSM1363779 CHD4 c.218delA p.K73fs*129 Deletion - Frameshift Large_intestine COSM1344942 MTF2 c.805A>C p.I269L Substitution - Missense Large_intestine COSM1337078 RNF2 c.587G>A p.R196Q Substitution - Missense Large_intestine COSM1491701 GATAD2B c.1311T>G p.G437G Substitution - coding silent Kidney COSM1489405 PRDM14 c.593C>T p.T198M Substitution - Missense Breast COSM1620267 NIPBL c.2965A>G p.I989V Substitution - Missense Liver COSM1581655 SETD2 c.3488A>G p.Y1163C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1706501 ZMYM5 c.1090A>G p.T364A Substitution - Missense Skin COSM1716414 CTCF c.610_611insA p.T204fs*26 Insertion - Frameshift Endometrium COSM1666057 NIPBL c.3743_3744insA p.A1250fs*7 Insertion - Frameshift Kidney COSM1717326 ALKBH3 c.552G>C p.E184D Substitution - Missense Ovary COSM1751890 L3MBTL2 c.1056C>A p.R352R Substitution - coding silent Urinary_tract COSM1750252 BPTF c.8674G>C p.E2892Q Substitution - Missense Urinary_tract COSM2150889 SMEK2 c.1986G>A p.K662K Substitution - coding silent Central_nervous_system COSM2229163 EP400 c.5561T>C p.L1854P Substitution - Missense Large_intestine COSM2235522 ARID1A c.4684delC p.M1564fs*1 Deletion - Frameshift Large_intestine COSM2777774 UHRF2 c.1923C>T p.Y641Y Substitution - coding silent Large_intestine COSM2879319 CXXC1 c.1087A>G p.R363G Substitution - Missense Large_intestine COSM2960281 WHSC1L1 c.1919T>A p.I640N Substitution - Missense Upper_aerodigestive_tract COSM3069705 DHX30 c.972G>A p.P324P Substitution - coding silent Large_intestine COSM3205534 TBL1XR1 c.971_973delCTT p.S324delS Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM3296120 MBD5 c.1171A>G p.M391V Substitution - Missense Upper_aerodigestive_tract COSM3356316 KMT2D c.14726G>A p.R4909H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3393519 PRDM9 c.509-5C>A p.? Unknown Pancreas COSM3488896 ZMYM4 c.3387C>T p.F1129F Substitution - coding silent Skin COSM3501000 INOC1 c.4116C>T p.P1372P Substitution - coding silent Skin COSM3447496 PHF21A c.652C>A p.Q218K Substitution - Missense Skin COSM3578859 SP110 c.1868T>C p.F623S Substitution - Missense Skin COSM3596277 SFMBT1 c.1447C>T p.L483L Substitution - coding silent Skin COSM3547384 NCOA3 c.3647C>T p.S1216F Substitution - Missense Skin COSM3546242 ACTR5 c.1542G>T p.M514I Substitution - Missense Skin COSM3531633 DOT1L c.5130C>T p.A1710A Substitution - coding silent Ovary COSM3687568 KDM2A c.1079G>A p.S360N Substitution - Missense Large_intestine COSM3667019 ASH1L c.6346G>T p.E2116* Substitution - Nonsense Liver COSM3715051 NSD1 c.5732G>T p.C1911F Substitution - Missense Upper_aerodigestive_tract COSM3708518 HCFC1 c.951G>C p.P317P Substitution - coding silent Liver COSM3734981 ARID1B c.5941G>T p.E1981* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3785126 RBBP5 c.167G>A p.R56K Substitution - Missense Pancreas COSM3816133 TP53BP1 c.4673T>G p.V1558G Substitution - Missense Breast COSM3858845 SHPRH c.3306C>T p.G1102G Substitution - coding silent Stomach COSM3923314 HDAC9 c.1844C>T p.S615F Substitution - Missense Skin COSM3926683 TAF1L c.3627C>T p.V1209V Substitution - coding silent Skin COSM3872347 YEATS4 c.63C>T p.I21I Substitution - coding silent Skin COSM3946381 GABRG1 c.916+9T>C p.? Unknown Lung COSM4031014 ARID1A c.4024C>T p.Q1342* Substitution - Nonsense Endometrium COSM4011746 TDRD1 c.966G>C p.K322N Substitution - Missense Stomach COSM3995464 KMT2C c.3564G>T p.Q1188H Substitution - Missense Kidney COSM4099075 ZMYND8 c.1677G>A p.Q559Q Substitution - coding silent Stomach COSM4115473 ACTL6A c.752A>G p.H251R Substitution - Missense Stomach COSM4065095 PHF12 c.512C>T p.A171V Substitution - Missense Stomach COSM4076316 DOT1L c.4002T>C p.G1334G Substitution - coding silent Stomach COSM4068054 AKAP1 c.2128G>A p.V710M Substitution - Missense Stomach COSM4129609 NCOR1 c.568C>T p.R190* Substitution - Nonsense Upper_aerodigestive_tract COSM4130749 KDM6B c.807T>C p.A269A Substitution - coding silent Thyroid COSM4162018 KMT2C c.2315C>T p.S772L Substitution - Missense Upper_aerodigestive_tract COSM4419124 HDAC6 c.2265A>G p.S755S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4560779 VPS72 c.823G>A p.E275K Substitution - Missense Skin COSM4518337 EP400 c.6098_6099CC>TT p.P2033L Substitution - Missense Skin COSM4500169 BPTF c.5212C>T p.R1738* Substitution - Nonsense Skin COSM4460695 JARID2 c.1176C>T p.S392S Substitution - coding silent Skin COSM4457754 SRCAP c.1058C>T p.T353I Substitution - Missense Skin COSM4422813 ARID1A c.6659A>G p.N2220S Substitution - Missense Kidney COSM4663705 ASH1L c.1823G>A p.S608N Substitution - Missense Large_intestine COSM4717868 PRMT10 c.701C>T p.T234M Substitution - Missense Large_intestine COSM4666198 BRPF3 c.43C>T p.R15W Substitution - Missense Large_intestine COSM4766078 DNMT3A c.2478+1delG p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4741216 WHSC1L1 c.1255_1256insA p.T419fs*28 Insertion - Frameshift Large_intestine COSM4689745 HDGFL1 c.643G>A p.E215K Substitution - Missense Large_intestine COSM4769396 WHSC1 c.1675-9A>T p.? Unknown Biliary_tract COSM4732901 TDRD5 c.1093G>A p.V365M Substitution - Missense Large_intestine COSM4732919 TDRD7 c.2192C>T p.A731V Substitution - Missense Large_intestine COSM4677375 DHX30 c.2390G>A p.R797Q Substitution - Missense Large_intestine COSM4649443 ATRX c.4897A>G p.N1633D Substitution - Missense Large_intestine COSM4633787 ZMYM2 c.3673A>G p.K1225E Substitution - Missense Large_intestine COSM4606374 PHF6 c.890G>A p.C297Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4773652 EYA4 c.880A>T p.M294L Substitution - Missense Stomach COSM4799615 ADNP c.3162T>A p.D1054E Substitution - Missense Liver COSM4780422 HDAC5 c.1297G>T p.E433* Substitution - Nonsense Liver COSM4911605 KDM2A c.571A>T p.M191L Substitution - Missense Liver COSM4916431 ERCC6 c.3949C>T p.H1317Y Substitution - Missense Liver COSM4920857 GTF3C1 c.2427C>T p.Y809Y Substitution - coding silent Liver COSM4925706 PHC2 c.1587C>T p.T529T Substitution - coding silent Liver COSM4987204 NSD1 c.1840G>T p.V614L Substitution - Missense Soft_tissue COSM5020404 KMT2A c.7245C>T p.N2415N Substitution - coding silent Soft_tissue COSM5044556 PHF15 c.85A>T p.R29* Substitution - Nonsense Kidney COSM5094786 KDM6A c.2084_2099del16 p.N697fs*13 Deletion - Frameshift Thymus COSM5224054 ASH1L c.6427delG p.E2143fs*18 Deletion - Frameshift Breast COSM5041340 ERCC6 c.1568G>C p.C523S Substitution - Missense Liver COSM5043604 TDRD10 c.772G>A p.G258R Substitution - Missense Liver COSM5346290 PBRM1 c.3387+1G>T p.? Unknown Urinary_tract COSM5351187 PRDM9 c.2528A>G p.N843S Substitution - Missense Lung COSM5391020 TRIM28 c.649C>T p.L217F Substitution - Missense Skin COSM5352751 DMAP1 c.905C>T p.P302L Substitution - Missense Large_intestine COSM5418634 CLOCK c.290G>A p.R97Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5637511 DIDO1 c.6590G>A p.R2197Q Substitution - Missense Oesophagus COSM5715563 MYST1 c.13G>A p.G5R Substitution - Missense Skin COSM5745704 TRIM33 c.3304A>G p.T1102A Substitution - Missense Pancreas COSM5723194 AIRE c.1038G>A p.Q346Q Substitution - coding silent Skin COSM5558155 MGA c.1572G>T p.K524N Substitution - Missense Prostate COSM5800895 MYST3 c.4639G>T p.D1547Y Substitution - Missense Breast COSM5819388 PHF2 c.2128A>T p.K710* Substitution - Nonsense Liver COSM5948687 TAF1L c.5132T>A p.L1711Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5887731 SP100 c.1346-6C>T p.? Unknown Skin COSM5902802 PHF3 c.3560C>T p.P1187L Substitution - Missense Skin COSM5967059 BRD1 c.2695G>A p.G899R Substitution - Missense Pituitary COSM5956671 SRCAP c.480T>C p.G160G Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5990769 KMT2A c.1269G>C p.K423N Substitution - Missense Liver COSM5981148 NCOR1 c.5225C>T p.S1742L Substitution - Missense Upper_aerodigestive_tract COSM6012189 CDYL c.1521G>A p.R507R Substitution - coding silent Skin COSM5993875 SMYD1 c.844A>C p.K282Q Substitution - Missense Prostate COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM51384 IDH1 c.? p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1169665 SMARCB1 c.1_362del362 p.? Unknown Soft_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4167250 TET2 c.? p.S890A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5760568 ATRX c.? p.D2082_Y2083delins* Unknown Central_nervous_system COSM4501340 SRCAP c.5868C>T p.H1956H Substitution - coding silent Skin COSM1107174 EHMT1 c.1067G>A p.R356H Substitution - Missense Endometrium COSM955452 BAZ1A c.4509G>A p.S1503S Substitution - coding silent Endometrium COSM4775623 EYA4 c.1015C>T p.L339F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5945050 TET2 c.3954+1G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4054564 MGA c.4635T>G p.P1545P Substitution - coding silent Stomach COSM4794479 CHD6 c.7634C>T p.T2545I Substitution - Missense Liver COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM4694990 KDM5A c.4265G>A p.R1422K Substitution - Missense Large_intestine COSM3666005 KMT2A c.4702T>G p.F1568V Substitution - Missense Liver COSM133004 ARID1A c.5548_5549insG p.D1850fs*4 Insertion - Frameshift Pancreas COSM5945658 TET2 c.4035T>G p.Y1345* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3628242 CDYL c.319C>T p.H107Y Substitution - Missense Skin COSM3839132 NCOA1 c.258G>C p.E86D Substitution - Missense Breast COSM450360 HDAC2 c.523G>A p.D175N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41644 TET2 c.1648C>T p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3061733 TCF20 c.5362C>T p.R1788W Substitution - Missense Large_intestine COSM5893656 EP400 c.8993G>A p.G2998E Substitution - Missense Skin COSM3765021 KDM5C c.632G>A p.R211Q Substitution - Missense Skin COSM3512611 CDYL2 c.459G>A p.Q153Q Substitution - coding silent Skin COSM87076 TET2 c.816_817insCTCAGGG p.Q273fs*11 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM127449 BRPF1 c.1362C>G p.R454R Substitution - coding silent Upper_aerodigestive_tract COSM4830999 SMEK1 c.961G>A p.E321K Substitution - Missense Cervix COSM41644 TET2 c.1648C>T p.R550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1522883 KDM6B c.1231C>T p.R411W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1297171 BMI1 c.212C>G p.S71* Substitution - Nonsense Urinary_tract COSM4941156 JARID2 c.443C>G p.S148C Substitution - Missense Liver COSM4523419 TP53BP1 c.1198G>A p.E400K Substitution - Missense Skin COSM1715926 SMARCA4 c.3993_3993delC p.K1332fs*26 Deletion - Frameshift Liver COSM4404432 KDM4A c.1500C>G p.V500V Substitution - coding silent Skin COSM3587201 MBD4 c.1324C>T p.R442W Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Skin COSM5417181 SETD2 c.716C>G p.S239* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM2156052 ARID1A c.3795C>T p.G1265G Substitution - coding silent Central_nervous_system COSM3733523 NCOR1 c.14G>T p.G5V Substitution - Missense Upper_aerodigestive_tract COSM5966149 ATRX c.2486G>C p.S829T Substitution - Missense Adrenal_gland COSM4130754 CHD3 c.1098C>A p.A366A Substitution - coding silent Thyroid COSM1583095 DNMT3A c.2056G>T p.D686Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1629136 PHF11 c.104A>G p.Q35R Substitution - Missense Liver COSM1018320 TET2 c.4817G>C p.G1606A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5835360 KMT2C c.9444delC p.I3149fs*7 Deletion - Frameshift Breast COSM3488858 ZMYM6 c.1503C>T p.F501F Substitution - coding silent Skin COSM1324566 MBD1 c.309G>A p.Q103Q Substitution - coding silent Ovary COSM1341860 PRDM16 c.868T>C p.F290L Substitution - Missense Large_intestine COSM3974445 DHX30 c.3499G>C p.E1167Q Substitution - Missense Central_nervous_system COSM41292 IDH1 c.? p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM685462 SFMBT2 c.1630A>G p.N544D Substitution - Missense Lung COSM444188 DIDO1 c.4516G>A p.A1506T Substitution - Missense Breast COSM3561749 KDM6A c.3319C>T p.P1107S Substitution - Missense Skin COSM3844849 SUV39H1 c.308G>A p.R103Q Substitution - Missense Breast COSM4383114 MECOM c.1865C>A p.A622D Substitution - Missense Large_intestine COSM4689693 HDAC6 c.3091_3092insC p.T1034fs*55 Insertion - Frameshift Large_intestine COSM5571619 CTCF c.1651G>A p.V551I Substitution - Missense Prostate COSM1190258 ACTR5 c.629G>C p.R210P Substitution - Missense Lung COSM3736438 STK31 c.804G>T p.K268N Substitution - Missense Large_intestine COSM1668272 RNF2 c.224G>T p.C75F Substitution - Missense Prostate COSM3091901 SMARCA2 c.3637C>T p.R1213W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1035247 BRD1 c.1468G>C p.A490P Substitution - Missense Endometrium COSM3879974 HDAC9 c.396C>A p.G132G Substitution - coding silent Stomach COSM1264361 RNF17 c.219T>C p.D73D Substitution - coding silent Oesophagus COSM3891703 BRD4 c.906C>T p.P302P Substitution - coding silent Skin COSM421526 KMT2C c.1121C>A p.A374E Substitution - Missense Urinary_tract COSM1045425 SETD2 c.5877C>A p.T1959T Substitution - coding silent Large_intestine COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5808872 KAT2B c.1489C>T p.H497Y Substitution - Missense Liver COSM2077942 HDAC1 c.1264G>A p.D422N Substitution - Missense Large_intestine COSM1630066 NCOR1 c.515C>T p.S172L Substitution - Missense Upper_aerodigestive_tract COSM1336717 TDRD5 c.1927G>A p.E643K Substitution - Missense Skin COSM30424 KMT2D c.15480C>G p.I5160M Substitution - Missense Lung COSM5976136 ACTL6B c.1029G>C p.G343G Substitution - coding silent Upper_aerodigestive_tract COSM2833320 GLYR1 c.581C>T p.A194V Substitution - Missense Large_intestine COSM150428 KMT2C c.2958A>G p.P986P Substitution - coding silent Soft_tissue COSM3568267 BAZ2B c.2186C>T p.P729L Substitution - Missense Skin COSM4893782 TTF2 c.2918C>T p.S973F Substitution - Missense Skin COSM88779 EP300 c.2773C>A p.P925T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3124636 ZBTB38 c.374G>A p.R125H Substitution - Missense Large_intestine COSM4933708 MYST2 c.322G>T p.V108F Substitution - Missense Liver COSM4040249 EP400 c.3927T>C p.T1309T Substitution - coding silent Stomach COSM3615942 NIPBL c.2875C>T p.P959S Substitution - Missense Skin COSM3798731 SP100 c.992C>G p.S331C Substitution - Missense Urinary_tract COSM690379 KDM2A c.2258G>A p.R753H Substitution - Missense Lung COSM959474 SETD3 c.1457G>A p.R486Q Substitution - Missense Endometrium COSM195396 PRDM14 c.1514G>A p.R505H Substitution - Missense Large_intestine COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM80429 RBBP7 c.936C>T p.F312F Substitution - coding silent Ovary COSM5020312 PRDM1 c.2204G>A p.G735D Substitution - Missense Soft_tissue COSM5878786 DNMT3A c.1935_1936insA p.G646fs*22 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM231553 DNMT3A c.2378A>C p.Y793S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM222683 ATAD2B_ENST00000238789 c.289G>A p.D97N Substitution - Missense Skin COSM5731029 SETD2 c.3680_3681delCT p.S1227fs*1 Deletion - Frameshift Breast COSM5433384 KMT2D c.10567C>T p.Q3523* Substitution - Nonsense Oesophagus COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5394610 BAZ2B c.2194+1G>A p.? Unknown Skin COSM52813 PBRM1 c.1925-3delTAGGTAGGAAGAGTGGCATTTCTCCTAAAAAATCAAAA p.? Unknown Kidney COSM134251 EYA1 c.1382G>A p.R461K Substitution - Missense Skin COSM4685915 FXR1 c.990C>A p.D330E Substitution - Missense Large_intestine COSM5031051 KDM6A c.3336_3337ins10 p.V1113fs*41 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3881872 ACTB c.658G>A p.A220T Substitution - Missense Large_intestine COSM1381227 RAI1 c.77G>A p.R26H Substitution - Missense Large_intestine COSM3911518 NCOA3 c.2545C>T p.R849C Substitution - Missense Oesophagus COSM3834736 MYST3 c.3758C>T p.S1253F Substitution - Missense Breast COSM3581882 MSH6 c.3366G>A p.Q1122Q Substitution - coding silent Skin COSM3814728 BAZ1A c.1384G>C p.V462L Substitution - Missense Breast COSM4455828 ERCC6 c.916G>A p.A306T Substitution - Missense Skin COSM2909158 HDAC4 c.1041A>C p.T347T Substitution - coding silent Large_intestine COSM3368923 CHD4 c.4475T>G p.V1492G Substitution - Missense Thyroid COSM254841 NCOR1 c.4349C>T p.S1450L Substitution - Missense Urinary_tract COSM3964140 SMARCB1 c.855G>C p.E285D Substitution - Missense Lung COSM4694896 KDM2B c.1933delC p.R645fs*37 Deletion - Frameshift Large_intestine COSM5487620 EP300 c.3805G>T p.G1269* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM943593 APOBEC1 c.391C>A p.L131I Substitution - Missense Endometrium COSM41715 ASXL1 c.3202C>T p.R1068* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1109477 KIAA2026_ENST00000399933 c.1258G>A p.E420K Substitution - Missense Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM263778 SMCHD1 c.1913C>A p.S638Y Substitution - Missense Large_intestine COSM1048986 SETD5_ENST00000402198 c.1366G>A p.E456K Substitution - Missense Endometrium COSM5912055 CLOCK c.1366C>T p.P456S Substitution - Missense Skin COSM2960303 WHSC1L1 c.1531A>G p.N511D Substitution - Missense Large_intestine COSM3525873 SETBP1 c.3589C>T p.L1197F Substitution - Missense Skin COSM4793343 SMARCA2 c.3401A>C p.N1134T Substitution - Missense Liver COSM3734212 SFMBT1 c.752T>A p.V251E Substitution - Missense Pancreas COSM129888 TRIM24 c.2320G>C p.E774Q Substitution - Missense Upper_aerodigestive_tract COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5653376 BPTF c.2883A>G p.I961M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2235456 ARID1A c.2291delC p.Q766fs*67 Deletion - Frameshift Endometrium COSM207998 MECOM c.1839delA p.G614fs*30 Deletion - Frameshift Large_intestine COSM4606116 TRRAP c.917C>G p.S306C Substitution - Missense Upper_aerodigestive_tract COSM937178 EP400 c.6877C>T p.R2293C Substitution - Missense Endometrium COSM1040972 MECOM c.613C>A p.R205S Substitution - Missense Endometrium COSM4390185 DPF1 c.313C>T p.L105L Substitution - coding silent Urinary_tract COSM5445905 BPTF c.8052_8053insGCCCCTCCA p.P2684_P2685insAPP Insertion - In frame Thyroid COSM1245450 ARID1B c.3463A>T p.K1155* Substitution - Nonsense Oesophagus COSM3785061 HDAC9 c.2050C>A p.Q684K Substitution - Missense Pancreas COSM5905590 PRDM5 c.1030+7T>C p.? Unknown Skin COSM4019734 DIDO1 c.4548G>T p.V1516V Substitution - coding silent Oesophagus COSM1360186 EP400 c.8178A>G p.Q2726Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3510040 BRD7 c.575C>T p.S192F Substitution - Missense Skin COSM4385258 EP300 c.4183_4184delAT p.S1396fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4579131 SETD6 c.301C>T p.L101L Substitution - coding silent Bone COSM30580 SMARCA4 c.4007G>A p.R1336H Substitution - Missense Large_intestine COSM4186536 NIPBL c.3697delT p.L1233fs*1 Deletion - Frameshift Kidney COSM51200 ASXL1 c.1888_1910del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4542915 ZMYM2 c.327G>A p.Q109Q Substitution - coding silent Skin COSM3704307 MBD6 c.930G>A p.V310V Substitution - coding silent Liver COSM3654708 SET c.395C>T p.P132L Substitution - Missense Skin COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5586739 TAF1L c.1590G>A p.L530L Substitution - coding silent Skin COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM484167 CDYL c.184C>G p.Q62E Substitution - Missense Kidney COSM427630 ERCC6 c.4238A>G p.Q1413R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1099599 WHSC1L1 c.747A>G p.P249P Substitution - coding silent Endometrium COSM5784352 BRDT c.1061C>T p.P354L Substitution - Missense Breast COSM144567 PHF6 c.820C>T p.R274* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM221060 KMT2D c.9151C>T p.R3051* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5025262 KDM4A c.2039T>C p.V680A Substitution - Missense Breast COSM4969838 TAF3 c.1437G>C p.L479L Substitution - coding silent Central_nervous_system COSM3675003 TRRAP c.3332G>T p.G1111V Substitution - Missense Prostate COSM1255490 KDM3B c.3363A>C p.K1121N Substitution - Missense Oesophagus COSM30583 SMARCA4 c.?_?del? p.? Unknown Lung COSM487287 PSIP1 c.731C>A p.P244Q Substitution - Missense Kidney COSM5824235 PHF8 c.976G>T p.D326Y Substitution - Missense Liver COSM4072252 SETBP1 c.3792T>G p.S1264S Substitution - coding silent Stomach COSM1027546 NCOA3 c.3786G>A p.Q1262Q Substitution - coding silent Kidney COSM1609127 GTF3C1 c.5543A>G p.E1848G Substitution - Missense Liver COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5964263 PHC2 c.770G>T p.G257V Substitution - Missense Breast COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1473987 SCMH1 c.1284C>G p.L428L Substitution - coding silent Breast COSM2848377 GABRG1 c.984T>G p.S328S Substitution - coding silent Stomach COSM467636 ACTR6 c.313A>G p.I105V Substitution - Missense Kidney COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5499155 ZMYM2 c.769G>T p.G257* Substitution - Nonsense Biliary_tract COSM5719369 ASH1L c.2433C>T p.S811S Substitution - coding silent Skin COSM1433179 PHF15 c.1394G>A p.R465H Substitution - Missense Large_intestine COSM4593173 CBX4 c.691A>C p.N231H Substitution - Missense Upper_aerodigestive_tract COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3692394 MUM1 c.1540G>A p.A514T Substitution - Missense Large_intestine COSM5413319 ARID2 c.3492C>T p.F1164F Substitution - coding silent Skin COSM2739032 NCOR1 c.2357A>G p.D786G Substitution - Missense Large_intestine COSM5737955 BAZ1B c.82A>G p.T28A Substitution - Missense Small_intestine COSM1342666 SCMH1 c.1065C>T p.I355I Substitution - coding silent Large_intestine COSM4421159 DOT1L c.901G>C p.G301R Substitution - Missense Pleura COSM5815026 ARID1A c.2879-2A>T p.? Unknown Liver COSM5035375 PRDM11 c.1500G>A p.S500S Substitution - coding silent Oesophagus COSM2802614 KDM6B c.2546C>T p.P849L Substitution - Missense Central_nervous_system COSM5878820 DNMT3A c.1667+1G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1013372 TET2 c.4070_4071delAG p.E1357fs*43 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1391092 BRD4 c.756_759delAGTG p.V253fs*29 Deletion - Frameshift Large_intestine COSM5062318 KMT2C c.9671G>A p.R3224H Substitution - Missense Stomach COSM3637095 HDAC9 c.3125C>T p.S1042F Substitution - Missense Skin COSM5459885 LMNA c.1663G>T p.D555Y Substitution - Missense Large_intestine COSM3144756 L3MBTL4 c.1007A>C p.K336T Substitution - Missense Oesophagus COSM4062127 PRMT7 c.561C>T p.S187S Substitution - coding silent Stomach COSM4890032 PRDM15 c.3578G>T p.G1193V Substitution - Missense Upper_aerodigestive_tract COSM4750867 KAT2B c.821A>G p.D274G Substitution - Missense Stomach COSM1624023 MYST3 c.4504G>A p.V1502M Substitution - Missense Liver COSM5918164 MECOM c.2279C>T p.P760L Substitution - Missense Skin COSM756953 KDM5C c.2266C>A p.L756I Substitution - Missense Endometrium COSM51978 BAP1 c.757C>T p.Q253* Substitution - Nonsense Eye COSM84842 WHSC1 c.3873T>G p.P1291P Substitution - coding silent Pancreas COSM4517780 PHC1 c.418_419CC>TT p.P140L Substitution - Missense Skin COSM5047451 EP300 c.4527G>C p.W1509C Substitution - Missense Oesophagus COSM5558087 BPTF c.1352A>C p.K451T Substitution - Missense Prostate COSM4747145 ARID2 c.1201_1202delAG p.E402fs*9 Deletion - Frameshift Stomach COSM4564771 FTO c.1434_1435GG>AA p.D479N Substitution - Missense Skin COSM3394090 BAG6 c.1296C>T p.T432T Substitution - coding silent Pancreas COSM301072 TDRD3 c.1721G>A p.R574Q Substitution - Missense Large_intestine COSM1462014 TAF1L c.1616C>T p.A539V Substitution - Missense Large_intestine COSM149088 SP110 c.619G>A p.E207K Substitution - Missense Prostate COSM41894 TET2 c.? p.P1962L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5961795 DOT1L c.1340_1348delCCTCACCCC p.S447_Q450>* Complex - deletion inframe Adrenal_gland COSM3842764 EP300 c.5528A>C p.Q1843P Substitution - Missense Breast COSM267409 SFMBT2 c.2097C>T p.F699F Substitution - coding silent Endometrium COSM2741651 ZBTB4 c.884delG p.G295fs*6 Deletion - Frameshift Large_intestine COSM2996506 PRMT7 c.1828G>A p.A610T Substitution - Missense Large_intestine COSM3807285 ERCC6 c.919C>G p.P307A Substitution - Missense Breast COSM6002326 MYST1 c.1151A>T p.D384V Substitution - Missense Prostate COSM3780039 KIAA2026_ENST00000399933 c.1183G>A p.E395K Substitution - Missense Urinary_tract COSM3845019 SMC1A c.3270C>T p.R1090R Substitution - coding silent Breast COSM1622166 MLL5 c.3336T>G p.T1112T Substitution - coding silent Liver COSM5801867 KAT2A c.2317_2320+2delATTGGT p.? Unknown Breast COSM3974444 SMARCC1 c.1957A>G p.T653A Substitution - Missense Central_nervous_system COSM107550 STK31 c.2647G>A p.A883T Substitution - Missense Skin COSM257994 SETBP1 c.2422C>A p.L808I Substitution - Missense Large_intestine COSM1605658 HNF1A c.365A>G p.Y122C Substitution - Missense Liver COSM5777255 TRIM24 c.1416T>C p.H472H Substitution - coding silent Breast COSM71166 ING3 c.809G>C p.R270T Substitution - Missense Ovary COSM1051601 SMARCA5 c.425G>A p.R142Q Substitution - Missense Endometrium COSM1616545 PHF21B c.1531C>T p.P511S Substitution - Missense Liver COSM1034772 TCF20 c.2156G>A p.R719Q Substitution - Missense Endometrium COSM1737384 ASXL1 c.2561C>A p.T854N Substitution - Missense Central_nervous_system COSM1082840 ZCWPW1 c.714G>T p.Q238H Substitution - Missense Endometrium COSM2157779 BRD8 c.673_674insT p.G225fs*67 Insertion - Frameshift Central_nervous_system COSM5952623 PHF14 c.1080T>C p.I360I Substitution - coding silent Oesophagus COSM683247 TDRD1 c.3303G>T p.E1101D Substitution - Missense Lung COSM3522207 ZBTB4 c.2612C>T p.P871L Substitution - Missense Skin COSM427353 TRDMT1 c.604G>C p.E202Q Substitution - Missense Breast COSM1021297 MSH6 c.3227G>A p.R1076H Substitution - Missense Large_intestine COSM4554471 BAZ2B c.6229G>A p.E2077K Substitution - Missense Skin COSM1268525 TRIM28 c.426T>G p.A142A Substitution - coding silent Oesophagus COSM914348 ASXL1 c.? p.E657* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1689317 TDRD5 c.2410G>A p.G804R Substitution - Missense Skin COSM3602380 ING2 c.309T>A p.I103I Substitution - coding silent Skin COSM3394630 KMT2C c.3046G>A p.A1016T Substitution - Missense Pancreas COSM2859873 TRIM24 c.1596T>A p.P532P Substitution - coding silent Large_intestine COSM3773771 NCOR1 c.549G>A p.Q183Q Substitution - coding silent Kidney COSM480341 PBRM1 c.2627G>T p.R876L Substitution - Missense Kidney COSM4614450 ZMYM4 c.590_591insT p.D200fs*1 Insertion - Frameshift Large_intestine COSM1128811 RAI1 c.4891G>A p.A1631T Substitution - Missense Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4826402 TCF20 c.809C>G p.S270C Substitution - Missense Cervix COSM4714005 PHF23 c.640C>T p.R214* Substitution - Nonsense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5615992 MYST3 c.5659G>T p.G1887C Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1707388 ARID4A c.1485T>G p.D495E Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM480154 SETD2 c.3440T>C p.F1147S Substitution - Missense Kidney COSM1009 SMARCB1 c.897G>A p.S299S Substitution - coding silent Soft_tissue COSM343232 SRCAP c.1456G>T p.E486* Substitution - Nonsense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2777604 KIAA2026_ENST00000399933 c.2069_2070insA p.K691fs*8 Insertion - Frameshift Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1666616 ARID1A c.? p.S157fs*236 Unknown Ovary COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5024877 SMARCA4 c.2505G>A p.K835K Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1051608 SMARCA5 c.1607A>C p.D536A Substitution - Missense Endometrium COSM910654 ORC1 c.1160C>A p.T387N Substitution - Missense Endometrium COSM3871169 ATF7IP c.3772C>T p.P1258S Substitution - Missense Skin COSM4074066 SMARCA4 c.4543C>T p.R1515C Substitution - Missense Stomach COSM2965494 KDM6A c.4160A>G p.Y1387C Substitution - Missense Soft_tissue COSM200504 TET2 c.2866C>A p.L956I Substitution - Missense Endometrium COSM3431462 HDAC9 c.2797G>T p.A933S Substitution - Missense Large_intestine COSM4767176 SFMBT2 c.380A>C p.D127A Substitution - Missense Stomach COSM325774 MBD6 c.2316G>T p.Q772H Substitution - Missense Lung COSM99740 DNMT3A c.2645G>C p.R882P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM726951 TCF20 c.5602G>T p.V1868F Substitution - Missense Lung COSM4381993 ZMYM3 c.1300G>C p.D434H Substitution - Missense Large_intestine COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM932709 EED c.535A>G p.T179A Substitution - Missense Endometrium COSM423110 PBRM1 c.2864delA p.N955fs*59 Deletion - Frameshift Kidney COSM5023753 PCGF2 c.996G>A p.K332K Substitution - coding silent Bone COSM5632437 PHIP c.2905C>T p.Q969* Substitution - Nonsense Oesophagus COSM37032 EZH2 c.1937A>G p.Y646C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5511332 AIRE c.977C>T p.P326L Substitution - Missense Biliary_tract COSM3615219 PRDM9 c.1643G>A p.G548E Substitution - Missense Skin COSM1632296 CHD6 c.7851A>G p.V2617V Substitution - coding silent Liver COSM263785 AP001011.3_ENST00000320876 c.5126C>T p.S1709L Substitution - Missense Large_intestine COSM30577 SMARCA4 c.2653C>T p.R885C Substitution - Missense Large_intestine COSM3841929 BRWD1 c.614C>T p.S205L Substitution - Missense Breast COSM1221869 PRDM11 c.428C>T p.A143V Substitution - Missense Large_intestine COSM1176879 TRRAP c.3251C>T p.S1084L Substitution - Missense Endometrium COSM149089 SP110 c.383C>T p.A128V Substitution - Missense Large_intestine COSM1492957 SMARCC2 c.1352A>T p.N451I Substitution - Missense Kidney COSM234447 BRD8 c.1362C>T p.S454S Substitution - coding silent Skin COSM3536905 PRMT1 c.737C>G p.P246R Substitution - Missense Skin COSM5017067 INO80C c.499T>C p.F167L Substitution - Missense Kidney COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Large_intestine COSM96443 CREBBP c.4499A>C p.Q1500P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM742193 BRPF3 c.2917C>T p.R973W Substitution - Missense Lung COSM1732066 PBRM1 c.2639G>A p.C880Y Substitution - Missense Kidney COSM4849569 HCFC2 c.733C>T p.R245* Substitution - Nonsense Cervix COSM4795908 TDRD6 c.652G>A p.A218T Substitution - Missense Liver COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13837 ATRX c.2719C>T p.R907* Substitution - Nonsense Lung COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM88086 KMT2D c.15485G>A p.R5162Q Substitution - Missense Large_intestine COSM99133 PRDM1 c.124_127delCAGG p.Q42fs*23 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM99760 IDH2 c.516G>A p.R172R Substitution - coding silent Central_nervous_system COSM121632 PRDM9 c.321C>T p.A107A Substitution - coding silent Prostate COSM133737 DNMT3A c.2207G>A p.R736H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144223 ATRX c.4276C>T p.R1426* Substitution - Nonsense Central_nervous_system COSM144600 KMT2D c.13166G>C p.R4389P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM221052 KMT2D c.9187C>T p.Q3063* Substitution - Nonsense Lung COSM144175 EZH2 c.1742C>T p.A581V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Soft_tissue COSM146933 ERCC6 c.3689G>C p.R1230P Substitution - Missense Large_intestine COSM147382 PRDM10 c.339T>C p.S113S Substitution - coding silent Stomach COSM166408 CREBBP c.4471C>A p.Q1491K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM186384 ZMYM4 c.854G>A p.G285D Substitution - Missense Large_intestine COSM186745 ACTR5 c.531G>T p.K177N Substitution - Missense Endometrium COSM218388 LBR c.589T>G p.F197V Substitution - Missense Pancreas COSM211636 TET2 c.3525_3525delT p.R1176fs*50 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM211642 TET2 c.3895_3896insT p.K1299fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM249612 RTF1 c.888_891delAACA p.N298fs*16 Deletion - Frameshift Kidney COSM230811 BRWD1 c.380_381CC>TT p.A127>? Complex Skin COSM245966 NCOA3 c.3756G>A p.Q1252Q Substitution - coding silent Prostate COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Kidney COSM249224 TIF1 c.2965A>C p.K989Q Substitution - Missense Kidney COSM231556 DNMT3A c.1640T>A p.L547H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM263770 AP001011.3_ENST00000320876 c.208G>T p.E70* Substitution - Nonsense Large_intestine COSM285219 SMEK2 c.1031C>A p.S344Y Substitution - Missense Large_intestine COSM356049 MYST2 c.1118A>C p.K373T Substitution - Missense Lung COSM377624 SETD2 c.2281C>G p.Q761E Substitution - Missense Lung COSM405181 PRDM9 c.1548_1557del10 p.G517fs*>375 Deletion - Frameshift Lung COSM435531 CTCF c.781+2T>G p.? Unknown Breast COSM465843 JMJD1C c.5497C>T p.L1833L Substitution - coding silent Large_intestine COSM574588 NCOA1 c.2517G>A p.A839A Substitution - coding silent Large_intestine COSM982732 SMARCD2 c.143G>A p.R48Q Substitution - Missense Endometrium COSM977553 SUZ12 c.646A>C p.N216H Substitution - Missense Endometrium COSM692226 EP400 c.4042G>C p.V1348L Substitution - Missense Lung COSM690030 DPF2 c.777C>G p.S259S Substitution - coding silent Lung COSM694495 SMARCC2 c.1452C>T p.T484T Substitution - coding silent Lung COSM679183 ACTA1 c.69C>T p.F23F Substitution - coding silent Cervix COSM941761 BAZ2A c.2745G>A p.L915L Substitution - coding silent Endometrium COSM1027523 ZMYND8 c.1914G>T p.E638D Substitution - Missense Endometrium COSM1018608 ATAD2B_ENST00000238789 c.3582T>C p.N1194N Substitution - coding silent Endometrium COSM734368 GABRG1 c.497G>A p.R166H Substitution - Missense Pancreas COSM729161 PHC3 c.2474C>T p.P825L Substitution - Missense Lung COSM729201 MECOM c.2559C>G p.N853K Substitution - Missense Lung COSM896941 ASH1L c.2193A>G p.P731P Substitution - coding silent Endometrium COSM1000723 EZH2 c.1876G>A p.V626M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1073488 EYA4 c.1132G>T p.E378* Substitution - Nonsense Endometrium COSM1124822 ZMYM3 c.136G>C p.A46P Substitution - Missense Endometrium COSM1093542 TRRAP c.112A>C p.K38Q Substitution - Missense Endometrium COSM1093684 TRRAP c.8511C>T p.C2837C Substitution - coding silent Large_intestine COSM1080065 CDYL c.1380C>T p.C460C Substitution - coding silent Large_intestine COSM1081873 PHIP c.822+1G>A p.? Unknown Endometrium COSM1080967 PHF3 c.4973G>A p.R1658Q Substitution - Missense Breast COSM1163731 ADNP c.3047delA p.K1016fs*11 Deletion - Frameshift Large_intestine COSM1163731 ADNP c.3047delA p.K1016fs*11 Deletion - Frameshift Stomach COSM1583091 DNMT3A c.2062C>A p.R688S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1188491 SMARCD1 c.413A>G p.K138R Substitution - Missense Lung COSM1305687 MBD5 c.1484C>G p.S495* Substitution - Nonsense Urinary_tract COSM1290325 ALKBH1 c.17C>G p.A6G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1302020 CHD9 c.6403G>C p.D2135H Substitution - Missense Urinary_tract COSM1321725 SIRT3 c.120T>A p.L40L Substitution - coding silent Ovary COSM1388287 AP001011.3_ENST00000320876 c.2172_2173insA p.G727fs*21 Insertion - Frameshift Large_intestine COSM1433318 BRD8 c.2442G>A p.T814T Substitution - coding silent Large_intestine COSM1468059 KDM6A c.1364_1365insG p.S456fs*29 Insertion - Frameshift Large_intestine COSM1351649 KMT2A c.7444G>A p.V2482I Substitution - Missense Large_intestine COSM1512174 ARID2 c.820C>T p.R274* Substitution - Nonsense Skin COSM1554706 TAF1L c.189G>A p.K63K Substitution - coding silent Large_intestine COSM1491239 ZMYM3 c.3111G>A p.K1037K Substitution - coding silent Breast COSM1626101 TAF1 c.1684A>T p.K562* Substitution - Nonsense Liver COSM1682624 SMC1A c.2559A>C p.K853N Substitution - Missense Large_intestine COSM1670145 DHX30 c.2608C>A p.L870M Substitution - Missense Large_intestine COSM1717602 KMT2D c.7390C>T p.R2464* Substitution - Nonsense Skin COSM1730145 CHD7 c.6403A>G p.R2135G Substitution - Missense Liver COSM1751636 BRWD1 c.5745G>C p.K1915N Substitution - Missense Urinary_tract COSM1744856 ARID1A c.649_653delCCCAA p.N218fs*180 Deletion - Frameshift Biliary_tract COSM2051925 SMYD3 c.908delT p.F303fs*12 Deletion - Frameshift Large_intestine COSM2154644 SETD8 c.803C>A p.T268K Substitution - Missense Central_nervous_system COSM2235544 ARID1A c.5560C>T p.H1854Y Substitution - Missense Large_intestine COSM2720051 CHD7 c.3609A>G p.E1203E Substitution - coding silent Upper_aerodigestive_tract COSM3095785 TAF1 c.3106C>T p.Q1036* Substitution - Nonsense Large_intestine COSM3209040 HDAC3 c.837C>T p.C279C Substitution - coding silent Large_intestine COSM3304376 KMT2C c.2769+1G>T p.? Unknown Breast COSM3296139 MBD5 c.1574T>A p.L525* Substitution - Nonsense Large_intestine COSM3349517 RING1 c.984A>C p.G328G Substitution - coding silent Large_intestine COSM3397019 SUV39H2 c.33G>T p.W11C Substitution - Missense Central_nervous_system COSM3502555 PYGO1 c.671C>T p.P224L Substitution - Missense Skin COSM3493331 BRDT c.1372G>A p.E458K Substitution - Missense Skin COSM3458232 EP400 c.2988C>T p.I996I Substitution - coding silent Skin COSM3562279 KDM5C c.3792C>T p.A1264A Substitution - coding silent Skin COSM3527175 L3MBTL4 c.398C>T p.S133F Substitution - Missense Skin COSM3523219 KDM6B c.4318A>G p.I1440V Substitution - Missense Skin COSM3690998 CREBBP c.1229C>T p.A410V Substitution - Missense Large_intestine COSM3757249 SUV420H2 c.669C>T p.G223G Substitution - coding silent Large_intestine COSM3777349 KDM1B c.27G>C p.K9N Substitution - Missense Urinary_tract COSM3853948 NSD1 c.1405G>T p.D469Y Substitution - Missense Stomach COSM3820882 CHD3 c.5278T>G p.W1760G Substitution - Missense Breast COSM3912954 PHF21B c.1500G>A p.T500T Substitution - coding silent Skin COSM3907053 KIAA1045 c.625C>T p.R209W Substitution - Missense Stomach COSM3889352 NCOR1 c.4375C>T p.L1459F Substitution - Missense Skin COSM3946384 GABRG1 c.30C>G p.S10S Substitution - coding silent Lung COSM4031566 PRDM16 c.2986C>T p.R996W Substitution - Missense Stomach COSM4107281 FMR1 c.1558G>A p.E520K Substitution - Missense Stomach COSM4072217 SETBP1 c.158A>G p.E53G Substitution - Missense Stomach COSM4063719 PRDM7 c.420A>G p.S140S Substitution - coding silent Stomach COSM4072851 L3MBTL4 c.1617A>G p.Q539Q Substitution - coding silent Stomach COSM4139921 CHD3 c.55A>G p.R19G Substitution - Missense Ovary COSM4171895 UHRF2 c.1230A>C p.K410N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4356183 TDRD6 c.5764C>T p.P1922S Substitution - Missense Skin COSM4403215 SETD2 c.2306A>C p.Q769P Substitution - Missense Skin COSM4389717 NCOA2 c.4185G>A p.A1395A Substitution - coding silent Pancreas COSM4408969 SMARCA2 c.4638C>G p.D1546E Substitution - Missense Liver COSM4588162 CHD7 c.6353A>G p.N2118S Substitution - Missense Bone COSM4573477 MGMT c.489C>T p.A163A Substitution - coding silent Bone COSM4429770 SMEK1 c.1598C>A p.S533* Substitution - Nonsense Oesophagus COSM4553255 SMNDC1 c.585G>A p.K195K Substitution - coding silent Skin COSM4494081 NCOA3 c.4269C>T p.Y1423Y Substitution - coding silent Skin COSM4466146 ZBTB38 c.1418C>T p.S473F Substitution - Missense Skin COSM4717527 PRDM9 c.1958C>G p.T653S Substitution - Missense Large_intestine COSM4736797 TRRAP c.11045G>A p.R3682Q Substitution - Missense Large_intestine COSM4689607 HCFC2 c.1695G>A p.T565T Substitution - coding silent Large_intestine COSM4694070 MYST2 c.1559G>A p.R520H Substitution - Missense Large_intestine COSM4611221 TRRAP c.8346_8347insA p.E2785fs*3 Insertion - Frameshift Large_intestine COSM4763094 ARID1B c.2922+1G>A p.? Unknown Stomach COSM4770500 KMT2C c.11594C>G p.S3865* Substitution - Nonsense Autonomic_ganglia COSM4619512 BRWD1 c.5617G>A p.D1873N Substitution - Missense Large_intestine COSM4629874 PRDM4 c.2147A>T p.H716L Substitution - Missense Large_intestine COSM4789201 TRIM66 c.819C>A p.S273S Substitution - coding silent Liver COSM4791594 AP001011.3_ENST00000320876 c.939G>A p.E313E Substitution - coding silent Liver COSM4803519 CHD7 c.6087C>T p.P2029P Substitution - coding silent Liver COSM4898793 CBX7 c.311C>T p.S104F Substitution - Missense Skin COSM4949583 KDM6B c.3458G>A p.G1153E Substitution - Missense Liver COSM4955315 PRDM5 c.1777A>G p.M593V Substitution - Missense Liver COSM4960802 PRDM10 c.2467G>A p.G823S Substitution - Missense Liver COSM4982476 SRCAP c.1585G>A p.E529K Substitution - Missense Oesophagus COSM4970220 SETD1A c.2626G>T p.E876* Substitution - Nonsense Central_nervous_system COSM5018196 HDAC9 c.1461G>T p.M487I Substitution - Missense Soft_tissue COSM5019722 KMT2C c.850-7C>T p.? Unknown Soft_tissue COSM5020752 KMT2C c.10979C>T p.S3660L Substitution - Missense Soft_tissue COSM5060161 PRMT10 c.364G>A p.G122R Substitution - Missense Stomach COSM5065697 BRD9 c.257A>G p.K86R Substitution - Missense Large_intestine COSM5368939 ARID1A c.6383_6403del21 p.Q2128_I2135>L Complex - deletion inframe Haematopoietic_and_lymphoid_tissue COSM5407163 HDAC9 c.1163G>A p.G388E Substitution - Missense Skin COSM5384610 GTF3C1 c.5586G>A p.R1862R Substitution - coding silent Skin COSM5469715 KAT5 c.484G>A p.E162K Substitution - Missense Large_intestine COSM5437043 TAF3 c.612G>A p.T204T Substitution - coding silent Oesophagus COSM5419689 SHPRH c.2515A>T p.S839C Substitution - Missense Liver COSM5575648 NCOA2 c.2267A>T p.D756V Substitution - Missense Stomach COSM5631215 SCMH1 c.606C>T p.S202S Substitution - coding silent Oesophagus COSM5724322 SMARCA4 c.233C>T p.S78F Substitution - Missense Skin COSM5724742 INTS12 c.1310C>T p.S437L Substitution - Missense Skin COSM5740243 MTA1 c.391C>T p.L131F Substitution - Missense Small_intestine COSM5736262 ATF2 c.1005G>T p.Q335H Substitution - Missense Small_intestine COSM5748960 ZMYM3 c.2206C>T p.R736C Substitution - Missense Pancreas COSM5615672 DAXX c.809G>A p.R270H Substitution - Missense Lung COSM5607880 ARID2 c.3912A>T p.L1304L Substitution - coding silent Skin COSM5702112 SIRT1 c.828_829GG>TT p.R276_D277>SY Complex - compound substitution Soft_tissue COSM5713680 RERE c.1597C>T p.R533C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5659802 GATAD2B c.336-1G>T p.? Unknown Soft_tissue COSM5553910 KAT5 c.309C>T p.F103F Substitution - coding silent Prostate COSM5568784 ARID4A c.212C>T p.S71F Substitution - Missense Prostate COSM5879667 ASXL1 c.2280delG p.A761fs*11 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5945510 KDM6A c.2503C>T p.Q835* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5936584 CHD6 c.2860G>A p.D954N Substitution - Missense Skin COSM5960522 KDM5C c.3341A>G p.K1114R Substitution - Missense Thyroid COSM5990104 TET2 c.1958delT p.F653fs*47 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM6006594 TTF2 c.1430G>T p.S477I Substitution - Missense Prostate COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM5880301 ATRX c.? p.R2197L Substitution - Missense Central_nervous_system COSM5347190 ARID1A c.?_?del? p.G1847fs*? Deletion - Frameshift Endometrium COSM4169551 DNMT3A c.? p.N797* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM52833 PBRM1 c.715-2A>G p.? Unknown Kidney COSM42019 TET2 c.5647_5648insC p.T1884fs*8 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1666676 SETBP1 c.? p.I871T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716786 TET2 c.? p.Q635* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM53239 TET2 c.? p.Q1348R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53109 TET2 c.? p.A1344E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5940145 KMT2A c.5960C>T p.P1987L Substitution - Missense Skin COSM3259695 EZH2 c.261T>C p.S87S Substitution - coding silent Large_intestine COSM1372826 MGA c.5890delA p.T1965fs*7 Deletion - Frameshift Large_intestine COSM5725087 RAI1 c.671C>T p.S224F Substitution - Missense Skin COSM4511309 SMYD1 c.864C>T p.F288F Substitution - coding silent Skin COSM54434 MBD1 c.1644G>T p.K548N Substitution - Missense Central_nervous_system COSM86082 KMT2C c.2418C>G p.S806S Substitution - coding silent Soft_tissue COSM4169302 BAP1 c.? p.I87fs*71 Unknown Biliary_tract COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM1387259 KDM6B c.161C>A p.P54H Substitution - Missense Large_intestine COSM1605476 TDG c.1001A>G p.Y334C Substitution - Missense Liver COSM5770983 PHF21B c.1214A>C p.E405A Substitution - Missense Breast COSM1440429 L3MBTL3 c.1741G>A p.A581T Substitution - Missense Large_intestine COSM5711895 SP100 c.1720+2_1720+3insA p.? Unknown Upper_aerodigestive_tract COSM3635744 EZH2 c.683C>T p.S228F Substitution - Missense Skin COSM1262937 PRDM1 c.640G>A p.V214M Substitution - Missense Large_intestine COSM4383821 TET2 c.1677T>A p.Y559* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3928932 KMT2C c.2344T>C p.S782P Substitution - Missense Central_nervous_system COSM732500 SMARCA5 c.1276C>A p.R426R Substitution - coding silent Lung COSM3717866 SMCHD1 c.3373A>G p.I1125V Substitution - Missense Liver COSM1443307 BAG6 c.2845A>G p.M949V Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4441850 UHRF2 c.190G>T p.G64* Substitution - Nonsense Large_intestine COSM5921708 NCOA6 c.1939C>T p.P647S Substitution - Missense Skin COSM1060889 PHF15 c.475A>G p.R159G Substitution - Missense Endometrium COSM1717620 RNF17 c.1298G>A p.R433Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM379497 EHMT1 c.3737C>T p.A1246V Substitution - Missense Lung COSM5424295 ZMYM1 c.1147-3A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4048188 TDRD3 c.1107A>T p.V369V Substitution - coding silent Stomach COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Soft_tissue COSM5978716 RUVBL1 c.151G>A p.V51I Substitution - Missense Upper_aerodigestive_tract COSM3761008 HDAC3 c.165A>G p.Q55Q Substitution - coding silent Large_intestine COSM977049 PHF12 c.2625G>T p.E875D Substitution - Missense Endometrium COSM5791321 KMT2C c.13739A>C p.Y4580S Substitution - Missense Breast COSM4511419 KMT2D c.7871C>T p.P2624L Substitution - Missense Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Soft_tissue COSM39331 PHIP c.4031C>T p.P1344L Substitution - Missense Central_nervous_system COSM41294 IDH1 c.? p.R132C Substitution - Missense Biliary_tract COSM1713781 DIDO1 c.4220G>A p.R1407H Substitution - Missense Skin COSM4440022 KDM3B c.3946delC p.P1317fs*10 Deletion - Frameshift Large_intestine COSM3294761 EYA2 c.236A>T p.Q79L Substitution - Missense Large_intestine COSM4932256 AKAP1 c.1735G>T p.D579Y Substitution - Missense Liver COSM1071548 CHD1 c.3658G>T p.E1220* Substitution - Nonsense Endometrium COSM3714152 SP140_ENST00000392045 c.1621C>T p.L541L Substitution - coding silent Upper_aerodigestive_tract COSM164201 SCML2 c.93T>C p.D31D Substitution - coding silent Breast COSM4569556 KMT2D c.1845T>G p.S615S Substitution - coding silent Skin COSM947864 SETDB2 c.433C>A p.H145N Substitution - Missense Endometrium COSM5519818 CBX7 c.477C>T p.R159R Substitution - coding silent Biliary_tract COSM1109461 KIAA2026_ENST00000399933 c.3084A>C p.T1028T Substitution - coding silent Endometrium COSM4576253 VPS72 c.323C>T p.S108F Substitution - Missense Bone COSM4774852 EP300 c.3667C>T p.Q1223* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM122594 DMAP1 c.622G>C p.V208L Substitution - Missense Upper_aerodigestive_tract COSM235026 NCOA6 c.4503C>T p.P1501P Substitution - coding silent Skin COSM5047739 ATRX c.3475G>C p.E1159Q Substitution - Missense Oesophagus COSM5393820 PHF21B c.332C>T p.P111L Substitution - Missense Skin COSM4155649 EZH2 c.2111-1G>A p.? Unknown Kidney COSM94715 MLLT6 c.979G>A p.A327T Substitution - Missense Lung COSM1744082 PHF17 c.1688G>A p.G563D Substitution - Missense Biliary_tract COSM2803082 CHD3 c.3563C>A p.A1188E Substitution - Missense Upper_aerodigestive_tract COSM3474976 ASH1L c.2123C>T p.P708L Substitution - Missense Skin COSM5746207 MECOM c.1127C>T p.S376F Substitution - Missense Pancreas COSM404319 EP400 c.7473+1G>T p.? Unknown Lung COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1753416 BRPF1 c.3483G>A p.Q1161Q Substitution - coding silent Urinary_tract COSM43414 TET2 c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1566693 BAP1 c.2149C>T p.R717W Substitution - Missense Large_intestine COSM1679019 SRCAP c.6086G>A p.R2029H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2801192 PHF12 c.1574G>A p.C525Y Substitution - Missense Large_intestine COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Bone COSM1676468 KMT2A c.4678G>A p.A1560T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM296624 RAI1 c.4707T>C p.D1569D Substitution - coding silent Large_intestine COSM4074044 SMARCA4 c.2967C>T p.P989P Substitution - coding silent Stomach COSM4411951 KDM6A c.? p.F289fs*36 Unknown Urinary_tract COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3942420 TRRAP c.9649G>C p.E3217Q Substitution - Missense Oesophagus COSM750344 MYST3 c.3576C>T p.I1192I Substitution - coding silent Lung COSM3849283 TDRD10 c.77C>A p.S26Y Substitution - Missense Pancreas COSM3757070 KDM4B c.1080A>G p.A360A Substitution - coding silent Oesophagus COSM1406135 SP100 c.2628T>A p.D876E Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1364684 AICDA c.159C>T p.N53N Substitution - coding silent Large_intestine COSM5020129 KMT2D c.3202-11_3202-10delCT p.? Unknown Soft_tissue COSM4453609 ARID4A c.3218A>T p.K1073M Substitution - Missense Skin COSM1610766 ZBTB4 c.2559A>T p.S853S Substitution - coding silent Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1661121 CHD1 c.1728G>T p.W576C Substitution - Missense Kidney COSM1684830 SETBP1 c.? p.D868Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4111154 ATRX c.2347A>C p.S783R Substitution - Missense Stomach COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1678807 CREBBP c.3478A>G p.M1160V Substitution - Missense Ovary COSM1716657 ATRX c.2341C>T p.R781* Substitution - Nonsense Central_nervous_system COSM252979 CLOCK c.368delT p.L123fs*1 Deletion - Frameshift Stomach COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4654986 EHMT1 c.812A>G p.K271R Substitution - Missense Large_intestine COSM256036 DNMT3A c.1979A>G p.Y660C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3973836 ZMYM3 c.3080C>G p.T1027S Substitution - Missense Central_nervous_system COSM5924742 DNMT3B c.2459A>G p.N820S Substitution - Missense Skin COSM5997381 ZCWPW1 c.1699A>G p.T567A Substitution - Missense Prostate COSM1034774 TCF20 c.1534A>G p.K512E Substitution - Missense Endometrium COSM5358232 KMT2C c.11049A>C p.K3683N Substitution - Missense Large_intestine COSM1316124 KDM1A c.1665G>T p.W555C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5944625 KMT2D c.11855_11856insAGC p.L3952_Q3953insA Insertion - In frame Haematopoietic_and_lymphoid_tissue COSM3153139 EP300 c.3602G>A p.C1201Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4571353 EZH1 c.438T>C p.F146F Substitution - coding silent Skin COSM5715604 BRPF3 c.3343C>T p.P1115S Substitution - Missense Skin COSM23004 MEN1 c.? p.E378V Substitution - Missense Parathyroid COSM3819167 PHF12 c.2539G>A p.E847K Substitution - Missense Breast COSM468037 EP400 c.8226A>G p.Q2742Q Substitution - coding silent Prostate COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34192 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1128983 SRCAP c.2952A>C p.P984P Substitution - coding silent Breast COSM4134435 ASXL1 c.3759T>C p.S1253S Substitution - coding silent Soft_tissue COSM4260619 CHD9 c.7941T>A p.A2647A Substitution - coding silent Stomach COSM4694069 MYST2 c.1501G>A p.E501K Substitution - Missense Large_intestine COSM1754579 SHPRH c.681G>C p.L227F Substitution - Missense Urinary_tract COSM1166109 CBX3 c.25-2A>T p.? Unknown Kidney COSM1117757 HCFC1 c.1551C>T p.A517A Substitution - coding silent Endometrium COSM4524226 RAI1 c.125G>A p.R42Q Substitution - Missense Skin COSM4930011 NIPBL c.1352C>T p.S451F Substitution - Missense Liver COSM128695 KMT2D c.14025_14026insC p.V4676fs*12 Insertion - Frameshift Upper_aerodigestive_tract COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4530510 KMT2C c.1703G>A p.G568D Substitution - Missense Skin COSM4596262 NCOA3 c.1462G>A p.G488R Substitution - Missense Upper_aerodigestive_tract COSM1209386 HDAC5 c.3330-2A>G p.? Unknown Large_intestine COSM1228963 TET2 c.3444T>A p.Y1148* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM167206 HCFC2 c.2338C>T p.R780W Substitution - Missense Skin COSM5708569 TBL1XR1 c.1388A>C p.D463A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5957640 ZMYM5 c.671G>T p.R224L Substitution - Missense Thyroid COSM4416679 TDRD6 c.3040C>G p.Q1014E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4154040 SMARCA4 c.1118+1G>A p.? Unknown Kidney COSM335240 DAXX c.202G>C p.E68Q Substitution - Missense Lung COSM5441323 NCOA5 c.350G>A p.R117Q Substitution - Missense Oesophagus COSM985462 CHD3 c.2550G>T p.E850D Substitution - Missense Stomach COSM1359417 HNF1A c.865delC p.P291fs*51 Deletion - Frameshift Large_intestine COSM3364107 ATRX c.1864C>A p.P622T Substitution - Missense Kidney COSM438076 ASXL3 c.2074G>A p.D692N Substitution - Missense Prostate COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4755337 ORC1 c.982A>G p.I328V Substitution - Missense Stomach COSM5495155 CHD8 c.339G>C p.S113S Substitution - coding silent Biliary_tract COSM255855 CTCF c.1253A>G p.Q418R Substitution - Missense Liver COSM5901105 ZMYM6 c.604-5C>T p.? Unknown Skin COSM4731940 TAF1 c.2987G>A p.R996H Substitution - Missense Large_intestine COSM231557 DNMT3A c.1711_1711delG p.A571fs*80 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4956155 GTF3C1 c.3682A>C p.I1228L Substitution - Missense Liver COSM43508 TET2 c.961C>T p.Q321* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM221066 KMT2D c.15484C>T p.R5162W Substitution - Missense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4989968 ERCC6 c.2046C>T p.L682L Substitution - coding silent Skin COSM3560202 SCML2 c.2090G>A p.G697E Substitution - Missense Skin COSM4681597 ERCC6 c.2461G>T p.G821C Substitution - Missense Large_intestine COSM1738135 TET2 c.? p.S1611fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM4642835 TET2 c.5890T>C p.Y1964H Substitution - Missense Large_intestine COSM1066215 NSD1 c.1832G>T p.R611L Substitution - Missense Endometrium COSM4418678 TDRD5 c.2052G>A p.G684G Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4515667 SETD1A c.1241_1242CC>TT p.P414L Substitution - Missense Skin COSM4065907 PCGF2 c.63C>T p.C21C Substitution - coding silent Stomach COSM2183548 POGZ c.3483A>G p.L1161L Substitution - coding silent Large_intestine COSM336571 KDM4B c.1036C>T p.R346W Substitution - Missense Lung COSM5708581 TBL1XR1 c.974G>T p.C325F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3829526 ARID1B c.6386G>C p.R2129T Substitution - Missense Breast COSM3866546 TDRD1 c.1082G>A p.R361K Substitution - Missense Skin COSM4920493 PHF15 c.1822C>T p.P608S Substitution - Missense Liver COSM5941791 DHX30 c.67C>T p.P23S Substitution - Missense Skin COSM1239953 PRMT6 c.316T>C p.S106P Substitution - Missense Oesophagus COSM931218 SUV420H1 c.659G>A p.R220Q Substitution - Missense Endometrium COSM1125853 BRWD3 c.2372G>A p.R791H Substitution - Missense Endometrium COSM1107170 EHMT1 c.745G>T p.V249F Substitution - Missense Endometrium COSM51488 ARID1A c.1007_1007delG p.C336fs*27 Deletion - Frameshift Ovary COSM4796216 WHSC1L1 c.1843G>A p.G615R Substitution - Missense Liver COSM737608 NSD1 c.2620G>T p.E874* Substitution - Nonsense Lung COSM1609363 GLYR1 c.1A>G p.M1V Substitution - Missense Liver COSM87150 TET2 c.4082G>A p.G1361D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3896561 ATAD2 c.1269A>G p.V423V Substitution - coding silent Stomach COSM5552303 EYA2 c.1574A>G p.D525G Substitution - Missense Prostate COSM2098491 CHD4 c.3202C>T p.R1068C Substitution - Missense Oesophagus COSM2067871 ARID2 c.4819C>T p.P1607S Substitution - Missense Large_intestine COSM3698630 TRRAP c.8797G>A p.A2933T Substitution - Missense Cervix COSM5723576 KDM3A c.436C>T p.L146F Substitution - Missense Skin COSM1074207 SHPRH c.1540T>G p.Y514D Substitution - Missense Endometrium COSM971435 CHD9 c.7374A>G p.L2458L Substitution - coding silent Endometrium COSM4960473 HDGFL1 c.673C>T p.R225W Substitution - Missense Liver COSM4997885 TDRD10 c.643G>A p.V215I Substitution - Missense Pancreas COSM5575643 MYST3 c.830A>G p.N277S Substitution - Missense Stomach COSM5509348 TBL1XR1 c.477T>C p.P159P Substitution - coding silent Biliary_tract COSM348548 EED c.690A>T p.G230G Substitution - coding silent Lung COSM5559386 PRDM9 c.1061T>G p.L354R Substitution - Missense Prostate COSM487371 TAF1L c.3731G>A p.R1244Q Substitution - Missense Pancreas COSM255213 MEN1 c.1621A>G p.T541A Substitution - Missense Soft_tissue COSM4794469 SETD1A c.1038G>A p.S346S Substitution - coding silent Liver COSM1737226 ING1 c.492C>A p.S164R Substitution - Missense Central_nervous_system COSM983344 BPTF c.6722G>A p.S2241N Substitution - Missense Endometrium COSM5762951 TET2 c.1334_1335delTT p.L446fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM87002 DNMT3A c.1627G>T p.G543C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4590050 PRDM10 c.1332A>C p.E444D Substitution - Missense Upper_aerodigestive_tract COSM96347 ASXL1 c.? p.G646fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM2911775 DNMT3A c.1827C>T p.F609F Substitution - coding silent Skin COSM5827142 EP400 c.8181_8182insCAGCAG p.Q2748_T2749insQQ Insertion - In frame Large_intestine COSM937505 ATF7IP c.2098G>T p.E700* Substitution - Nonsense Endometrium COSM4023055 ASH1L c.3889C>T p.R1297C Substitution - Missense Stomach COSM3731914 MTA1 c.1344+5delG p.? Unknown Large_intestine COSM453345 BAZ1B c.1476G>T p.R492S Substitution - Missense Breast COSM1602154 ARID1A c.5683G>T p.E1895* Substitution - Nonsense Liver COSM2949900 MINA c.550G>A p.E184K Substitution - Missense Upper_aerodigestive_tract COSM74853 GTF3C1 c.2198G>A p.G733E Substitution - Missense Ovary COSM4753990 ALKBH3 c.52G>A p.V18I Substitution - Missense Stomach COSM4748966 CREBBP c.761C>T p.A254V Substitution - Missense Stomach COSM4731917 TAF1 c.151C>A p.Q51K Substitution - Missense Large_intestine COSM3563245 HDAC8 c.1112G>A p.G371E Substitution - Missense Skin COSM1187547 CHD7 c.1234C>T p.Q412* Substitution - Nonsense Lung COSM1202275 CREBBP c.5720C>T p.A1907V Substitution - Missense Large_intestine COSM3359357 KDM2A c.2208G>A p.V736V Substitution - coding silent Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM21477 HNF1A c.817A>G p.K273E Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1664345 SRCAP c.7834G>T p.E2612* Substitution - Nonsense Kidney COSM5708578 TBL1XR1 c.1059T>A p.N353K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96360 BAP1 c.784-2A>C p.? Unknown Pleura COSM1363349 MBD6 c.2337_2338insG p.A783fs*10 Insertion - Frameshift Large_intestine COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM228110 KMT2C c.1042G>A p.D348N Substitution - Missense Soft_tissue COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5894871 KMT2C c.900G>T p.E300D Substitution - Missense Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2834956 CHD9 c.8262A>G p.K2754K Substitution - coding silent Large_intestine COSM4589128 MSL3 c.119T>C p.V40A Substitution - Missense Bone COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3568273 BAZ2B c.658C>T p.Q220* Substitution - Nonsense Skin COSM1027424 NCOA5 c.1525T>G p.F509V Substitution - Missense Endometrium COSM1731816 HDAC10 c.1747C>A p.H583N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3424854 SMC1A c.1162A>G p.T388A Substitution - Missense Large_intestine COSM75373 MBD1 c.1211G>A p.R404H Substitution - Missense Ovary COSM5985423 DOT1L c.164T>C p.M55T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM2949878 MINA c.905T>C p.V302A Substitution - Missense Large_intestine COSM1158713 CTCF c.3G>T p.M1I Substitution - Missense Pancreas COSM46456 TET2 c.1669C>T p.Q557* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5508064 L3MBTL3 c.2136+10A>C p.? Unknown Biliary_tract COSM3624649 BAG6 c.1872C>G p.P624P Substitution - coding silent Skin COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM4060710 CREBBP c.3836C>T p.P1279L Substitution - Missense Stomach COSM724839 DIDO1 c.4707G>A p.E1569E Substitution - coding silent Lung COSM3650718 EYA1 c.1228C>T p.P410S Substitution - Missense Skin COSM302137 EP400 c.8181A>G p.Q2727Q Substitution - coding silent Skin COSM1416465 EP300 c.444G>A p.T148T Substitution - coding silent Large_intestine COSM4647708 PHC2 c.236A>G p.Y79C Substitution - Missense Large_intestine COSM3952655 TAF1L c.2467C>A p.R823R Substitution - coding silent Lung COSM383674 ZBTB33 c.432C>T p.D144D Substitution - coding silent Lung COSM5575223 EP300 c.5006C>T p.T1669I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5796665 BRDT c.1521T>A p.A507A Substitution - coding silent Breast COSM1363346 MBD6 c.2193_2194insC p.Q734fs*4 Insertion - Frameshift Large_intestine COSM3598858 TET2 c.2044C>T p.H682Y Substitution - Missense Skin COSM1256218 L3MBTL4 c.1172G>A p.R391H Substitution - Missense Oesophagus COSM147987 CHD2 c.4623A>G p.T1541T Substitution - coding silent Stomach COSM1067647 NIPBL c.981G>T p.K327N Substitution - Missense Endometrium COSM3386851 BAHD1 c.1985T>A p.M662K Substitution - Missense Pancreas COSM1109595 KDM4C c.1869G>A p.T623T Substitution - coding silent Endometrium COSM991 SMARCB1 c.141C>A p.Y47* Substitution - Nonsense Central_nervous_system COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43416 TET2 c.2368C>T p.Q790* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM51441 ARID1A c.5161C>T p.R1721* Substitution - Nonsense Endometrium COSM79351 DAXX c.1601C>A p.S534* Substitution - Nonsense Ovary COSM78389 RAG2 c.1153T>C p.C385R Substitution - Missense Ovary COSM88684 TAF1 c.4531C>G p.L1511V Substitution - Missense Ovary COSM96442 EP300 c.4401_4402insA p.M1470fs*3 Insertion - Frameshift Large_intestine COSM124865 NSD1 c.5177C>A p.P1726H Substitution - Missense Upper_aerodigestive_tract COSM133000 ARID1A c.3344_3344delC p.P1115fs*46 Deletion - Frameshift Large_intestine COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Soft_tissue COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Upper_aerodigestive_tract COSM184380 GTF3C1 c.3733C>T p.R1245C Substitution - Missense Liver COSM186745 ACTR5 c.531G>T p.K177N Substitution - Missense Large_intestine COSM242538 HDAC2 c.1240C>T p.R414W Substitution - Missense Prostate COSM226978 PRDM9 c.1802C>G p.T601R Substitution - Missense Lung COSM254626 CREBBP c.3874C>T p.Q1292* Substitution - Nonsense Urinary_tract COSM301463 NSD1 c.5996_5997TC>GT p.L1999R Substitution - Missense Large_intestine COSM310145 CLOCK c.1371G>A p.T457T Substitution - coding silent Lung COSM319975 DNMT3A c.76G>T p.G26* Substitution - Nonsense Lung COSM324785 ATRX c.481G>T p.G161* Substitution - Nonsense Lung COSM367777 HDAC8 c.132G>T p.L44F Substitution - Missense Lung COSM379334 WHSC1 c.3295G>A p.E1099K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM439143 LMNB2 c.1356T>C p.G452G Substitution - coding silent Prostate COSM438025 SMCHD1 c.2118C>T p.L706L Substitution - coding silent Breast COSM595959 BAG6 c.1329G>A p.Q443Q Substitution - coding silent Kidney COSM481296 GABRG1 c.1139C>A p.P380H Substitution - Missense Kidney COSM1025740 ASXL1 c.4471C>T p.Q1491* Substitution - Nonsense Endometrium COSM720800 NCOA1 c.1458C>T p.F486F Substitution - coding silent Lung COSM895821 POGZ c.1953A>G p.K651K Substitution - coding silent Endometrium COSM1602159 ARID1A c.6706_6707delCG p.L2238fs*39 Deletion - Frameshift Liver COSM1034573 EP300 c.5014G>T p.E1672* Substitution - Nonsense Endometrium COSM1116475 FMR1 c.1613G>A p.G538E Substitution - Missense Endometrium COSM1131649 KMT2C c.13254G>T p.R4418S Substitution - Missense Prostate COSM1080065 CDYL c.1380C>T p.C460C Substitution - coding silent Large_intestine COSM1081840 PHIP c.5185C>A p.L1729I Substitution - Missense Endometrium COSM1083669 MLL5 c.921A>G p.L307L Substitution - coding silent Endometrium COSM1083682 MLL5 c.2980G>T p.E994* Substitution - Nonsense Endometrium COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1200988 CHD6 c.7300C>A p.L2434I Substitution - Missense Large_intestine COSM1184220 ATRX c.137A>C p.K46T Substitution - Missense Large_intestine COSM1235811 SMARCA4 c.416C>T p.P139L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1220350 PHF16 c.1271C>T p.T424M Substitution - Missense Large_intestine COSM1605514 PRDM4 c.1035A>G p.V345V Substitution - coding silent Liver COSM1287937 SIRT6 c.15C>T p.Y5Y Substitution - coding silent Autonomic_ganglia COSM1307792 BRWD1 c.1790G>T p.G597V Substitution - Missense Urinary_tract COSM42029 TET2 c.3646C>T p.R1216* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1324484 MYST1 c.288T>A p.F96L Substitution - Missense Ovary COSM1441796 JARID2 c.2022_2023insA p.W677fs*133 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1450168 CBX3 c.26delA p.M11fs*26 Deletion - Frameshift Large_intestine COSM1443396 EHMT2 c.1635G>T p.E545D Substitution - Missense Large_intestine COSM1439346 CHD1 c.665_666insTGA p.D221_E222insD Insertion - In frame Large_intestine COSM1363771 CHD4 c.1039C>T p.R347* Substitution - Nonsense Pancreas COSM1351659 KMT2A c.9301A>C p.K3101Q Substitution - Missense Large_intestine COSM1472083 HDAC9 c.1074G>A p.T358T Substitution - coding silent Prostate COSM1610926 CBX8 c.486A>C p.R162R Substitution - coding silent Liver COSM1622513 EZH2 c.492G>T p.G164G Substitution - coding silent Soft_tissue COSM1633358 SETD5_ENST00000402198 c.328A>G p.R110G Substitution - Missense Large_intestine COSM1715921 KDM5D c.2165C>T p.S722F Substitution - Missense Skin COSM1747667 TTF2 c.1126C>A p.L376M Substitution - Missense Urinary_tract COSM1746851 EP400 c.7748C>T p.S2583L Substitution - Missense Urinary_tract COSM1756380 SMARCA1 c.92C>G p.P31R Substitution - Missense Urinary_tract COSM1756765 EP400 c.1836C>T p.P612P Substitution - coding silent Urinary_tract COSM1724237 PRMT8 c.91T>C p.S31P Substitution - Missense Skin COSM2041370 KDM2A c.1887T>C p.N629N Substitution - coding silent Large_intestine COSM2259829 BRDT c.245G>A p.R82H Substitution - Missense Large_intestine COSM2819130 PRDM15 c.1832G>A p.R611Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2889288 ASXL1 c.2813C>G p.P938R Substitution - Missense Large_intestine COSM3033647 MECP2 c.1392C>T p.S464S Substitution - coding silent Upper_aerodigestive_tract COSM3092486 PHF8 c.1725C>T p.N575N Substitution - coding silent Large_intestine COSM3296246 EPC2 c.54T>C p.P18P Substitution - coding silent Upper_aerodigestive_tract COSM3389752 CHD6 c.5215A>G p.I1739V Substitution - Missense Pancreas COSM3412593 ZCWPW1 c.1845G>A p.E615E Substitution - coding silent Central_nervous_system COSM3474700 TDRD10 c.621C>T p.T207T Substitution - coding silent Skin COSM3578863 SP110 c.1668C>T p.F556F Substitution - coding silent Skin COSM3548770 DIDO1 c.6020C>T p.S2007L Substitution - Missense Skin COSM3650725 EYA1 c.863A>G p.K288R Substitution - Missense Skin COSM3697338 BRD9 c.952G>A p.G318R Substitution - Missense Large_intestine COSM3683876 SMN2 c.591A>C p.P197P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3700360 PHC1 c.225+6A>T p.? Unknown Liver COSM3712394 AKAP1 c.1842G>T p.V614V Substitution - coding silent Upper_aerodigestive_tract COSM3766569 DNMT3A c.27C>T p.P9P Substitution - coding silent Liver COSM3791028 BTAF1 c.3842A>G p.N1281S Substitution - Missense Urinary_tract COSM3787346 HDAC5 c.738C>T p.Y246Y Substitution - coding silent Pancreas COSM3839026 HDAC4 c.981G>A p.T327T Substitution - coding silent Large_intestine COSM3842810 TCF20 c.2116C>T p.R706C Substitution - Missense Breast COSM3871644 ARID2 c.4487C>T p.S1496F Substitution - Missense Skin COSM3876905 MLL5 c.1988A>G p.Q663R Substitution - Missense Stomach COSM3945533 DHX30 c.682G>A p.E228K Substitution - Missense Liver COSM3977547 ARID1A c.3820G>T p.G1274* Substitution - Nonsense Lung COSM4015930 KAT6B c.5218A>C p.I1740L Substitution - Missense Stomach COSM4043523 SMARCC2 c.2430C>T p.S810S Substitution - coding silent Stomach COSM4043544 SMARCC2 c.272G>T p.C91F Substitution - Missense Stomach COSM3991130 SP140_ENST00000392045 c.2576C>T p.A859V Substitution - Missense Kidney COSM4090677 IDH1 c.941G>A p.R314H Substitution - Missense Stomach COSM4129610 NCOR1 c.528C>T p.L176L Substitution - coding silent Upper_aerodigestive_tract COSM4129608 NCOR1 c.571G>A p.E191K Substitution - Missense Upper_aerodigestive_tract COSM4274746 ASXL3 c.344T>C p.M115T Substitution - Missense Large_intestine COSM4385391 KDM6A c.3827A>G p.N1276S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384167 MLL5 c.5423C>T p.A1808V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4604912 TET2 c.2601T>A p.Y867* Substitution - Nonsense Upper_aerodigestive_tract COSM4419702 NSD1 c.1482C>T p.C494C Substitution - coding silent Soft_tissue COSM4579399 PRDM7 c.113C>T p.P38L Substitution - Missense Bone COSM4568032 KMT2D c.9004_9005CC>TT p.P3002F Substitution - Missense Skin COSM4590278 KDM2A c.310A>G p.S104G Substitution - Missense Upper_aerodigestive_tract COSM4492249 KDM3B c.3942C>T p.P1314P Substitution - coding silent Skin COSM4421767 NCOA2 c.3340C>G p.P1114A Substitution - Missense Pleura COSM4725172 SETD5_ENST00000402198 c.1762C>A p.R588R Substitution - coding silent Large_intestine COSM4639123 HDAC4 c.1118C>T p.A373V Substitution - Missense Large_intestine COSM4647600 KDM5A c.4317G>A p.V1439V Substitution - coding silent Large_intestine COSM4654235 STK31 c.2170A>G p.M724V Substitution - Missense Large_intestine COSM4763475 MECOM c.652A>T p.K218* Substitution - Nonsense Stomach COSM4611777 ADNP c.3047_3048insA p.A1017fs*6 Insertion - Frameshift Large_intestine COSM4753999 ALKBH3 c.490C>A p.R164S Substitution - Missense Stomach COSM4804004 SMYD2 c.978G>T p.E326D Substitution - Missense Liver COSM4938865 EP400 c.6356T>C p.F2119S Substitution - Missense Liver COSM4959260 HDAC6 c.2917G>A p.G973R Substitution - Missense Liver COSM4951085 ARID1A c.1114_1115insG p.Q372fs*28 Insertion - Frameshift Liver COSM4962523 L3MBTL3 c.740C>T p.P247L Substitution - Missense Pancreas COSM4969186 SETD2 c.6026T>C p.L2009P Substitution - Missense Central_nervous_system COSM5026920 CHD7 c.2250C>T p.S750S Substitution - coding silent Breast COSM5348584 EPC1 c.1772_1773insT p.Q592fs*22 Insertion - Frameshift Liver COSM5412314 HCFC1 c.4703C>T p.A1568V Substitution - Missense Skin COSM5402188 KDM3B c.238G>A p.V80I Substitution - Missense Skin COSM5366840 ATRX c.2519G>T p.R840I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5355729 GABRG1 c.764-8delT p.? Unknown Large_intestine COSM5518961 EPC1 c.699_700insA p.M234fs*3 Insertion - Frameshift Biliary_tract COSM5635244 PHF1 c.987T>G p.F329L Substitution - Missense Oesophagus COSM5645484 INTS12 c.137G>A p.S46N Substitution - Missense Oesophagus COSM5757016 KMT2C c.12906_12907insT p.A4303fs*12 Insertion - Frameshift Large_intestine COSM5755321 DOT1L c.629G>A p.G210E Substitution - Missense Large_intestine COSM5726012 ATF7IP c.3225C>T p.P1075P Substitution - coding silent Skin COSM5582100 PHF15 c.1106C>T p.P369L Substitution - Missense Skin COSM5752283 KMT2C c.1796_1799delATAG p.D599fs*12 Deletion - Frameshift Breast COSM5662051 KMT2C c.2455G>T p.V819F Substitution - Missense Soft_tissue COSM5668628 TAF1L c.4411A>T p.I1471F Substitution - Missense Soft_tissue COSM5556171 SETD5_ENST00000402198 c.3135T>C p.G1045G Substitution - coding silent Prostate COSM5569690 BPTF c.8400G>A p.T2800T Substitution - coding silent Prostate COSM5816170 ARID4A c.275-2A>T p.? Unknown Liver COSM5820859 JMJD1C c.5123A>G p.Y1708C Substitution - Missense Liver COSM5965175 PRDM2 c.3707A>G p.D1236G Substitution - Missense Breast COSM5986169 BRPF1 c.3151G>T p.G1051C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4171997 EP300 c.? p.R2263* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5347203 ARID1A c.?_?del? p.Q920fs*? Deletion - Frameshift Endometrium COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3656855 TAF1L c.2436G>A p.G812G Substitution - coding silent Skin COSM5607850 ARID1B c.5063C>A p.P1688H Substitution - Missense Skin COSM1215018 MGA c.7016G>T p.G2339V Substitution - Missense Large_intestine COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM983335 BPTF c.5437G>A p.E1813K Substitution - Missense Endometrium COSM1028974 DIDO1 c.4216C>T p.R1406W Substitution - Missense Endometrium COSM3936743 MGA c.3128G>A p.R1043Q Substitution - Missense Oesophagus COSM4992926 KMT2C c.8081C>T p.P2694L Substitution - Missense Skin COSM344349 INOC1 c.81G>A p.R27R Substitution - coding silent Lung COSM429983 EED c.619C>T p.L207L Substitution - coding silent Soft_tissue COSM2687986 NIPBL c.5681G>A p.R1894H Substitution - Missense Stomach COSM2780455 SFMBT1 c.1030C>T p.H344Y Substitution - Missense Large_intestine COSM130216 WHSC1L1 c.1910C>T p.S637F Substitution - Missense Upper_aerodigestive_tract COSM4728368 SMC1A c.2239C>T p.R747C Substitution - Missense Large_intestine COSM211752 TET2 c.5735A>C p.H1912P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM468654 SMARCC2 c.3225T>G p.G1075G Substitution - coding silent Kidney COSM85250 FMR1 c.1848G>T p.E616D Substitution - Missense Pancreas COSM3678192 TP53BP1 c.2487T>G p.D829E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3013871 PRDM9 c.2452C>G p.H818D Substitution - Missense Large_intestine COSM1308208 EP300 c.4578G>C p.E1526D Substitution - Missense Urinary_tract COSM4843943 ZBTB33 c.1673C>T p.S558F Substitution - Missense Cervix COSM373220 DAXX c.1214C>G p.S405C Substitution - Missense Lung COSM2929521 TFPT c.362T>C p.M121T Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM5711949 HDAC6 c.3245G>C p.G1082A Substitution - Missense Soft_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM403343 KDM5A c.3660G>T p.R1220S Substitution - Missense Lung COSM1190909 RAI1 c.866_871delAGCAGC p.Q290_Q291delQQ Deletion - In frame Lung COSM3733523 NCOR1 c.14G>T p.G5V Substitution - Missense Upper_aerodigestive_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM947871 SETDB2 c.715G>T p.E239* Substitution - Nonsense Endometrium COSM5982818 NSD1 c.2610A>T p.R870S Substitution - Missense Upper_aerodigestive_tract COSM5982221 KDM6A c.2232C>T p.V744V Substitution - coding silent Upper_aerodigestive_tract COSM992160 BRD4 c.87A>G p.T29T Substitution - coding silent Endometrium COSM110804 BAP1 c.1023_1023delC p.S341fs*21 Deletion - Frameshift Pleura COSM1619760 HDAC3 c.980-3A>T p.? Unknown Liver COSM1121693 PHF16 c.956C>T p.T319M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3419136 PHC2 c.584T>C p.F195S Substitution - Missense Large_intestine COSM905242 ACTA1 c.492C>T p.N164N Substitution - coding silent Stomach COSM2768721 SND1 c.1599C>T p.Y533Y Substitution - coding silent Large_intestine COSM1685352 IDH2 c.? p.? Unknown Bone COSM4603590 KMT2C c.2448_2449insA p.I817fs*11 Insertion - Frameshift Upper_aerodigestive_tract COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3968736 PRMT5 c.1861G>A p.V621I Substitution - Missense Central_nervous_system COSM4888093 CTCF c.2180G>T p.R727L Substitution - Missense Upper_aerodigestive_tract COSM327350 CHD1 c.5050_5052delCCT p.P1684delP Deletion - In frame Central_nervous_system COSM729198 MECOM c.2037T>C p.T679T Substitution - coding silent Lung COSM3402623 NCOR1 c.658G>A p.E220K Substitution - Missense Central_nervous_system COSM1381234 RAI1 c.2246delA p.N750fs*69 Deletion - Frameshift Large_intestine COSM5656589 TDRD5 c.1519C>T p.R507W Substitution - Missense Soft_tissue COSM3951826 PRDM14 c.1335C>A p.D445E Substitution - Missense Lung COSM1226757 SMARCA4 c.3380A>G p.D1127G Substitution - Missense Large_intestine COSM5654800 KMT2C c.446A>T p.D149V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5493520 CHD3 c.644C>T p.A215V Substitution - Missense Biliary_tract COSM378822 ELP3 c.635T>A p.L212H Substitution - Missense Lung COSM3833587 TRRAP c.7418G>T p.W2473L Substitution - Missense Breast COSM4665020 BAG6 c.2420C>T p.T807M Substitution - Missense Large_intestine COSM3878706 JHDM1D c.555T>C p.Y185Y Substitution - coding silent Stomach COSM1073485 EYA4 c.949C>T p.P317S Substitution - Missense Endometrium COSM3381976 BAZ1B c.1792A>G p.T598A Substitution - Missense Pancreas COSM1237697 TDG c.287_288insA p.I98fs*6 Insertion - Frameshift Thyroid COSM1108255 TAF1L c.98G>A p.G33D Substitution - Missense Endometrium COSM243092 ATAD2 c.3331A>C p.R1111R Substitution - coding silent Prostate COSM4958210 EP300 c.2109G>A p.M703I Substitution - Missense Liver COSM4706998 NIPBL c.7795A>G p.S2599G Substitution - Missense Large_intestine COSM4802586 BAHCC1 c.2785C>T p.R929W Substitution - Missense Liver COSM1093548 TRRAP c.183C>T p.F61F Substitution - coding silent Endometrium COSM1604169 KMT2A c.7094T>C p.L2365P Substitution - Missense Liver COSM3608572 PHF15 c.1498C>T p.Q500* Substitution - Nonsense Skin COSM3667690 SMEK1 c.1183A>C p.M395L Substitution - Missense Liver COSM4018355 KMT2A c.11893C>T p.R3965W Substitution - Missense Stomach COSM4824594 PRDM2 c.1143C>T p.I381I Substitution - coding silent Cervix COSM211718 TET2 c.3743T>C p.L1248P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5344450 ZCWPW2 c.121T>A p.W41R Substitution - Missense Large_intestine COSM3794132 INOC1 c.2901G>C p.L967F Substitution - Missense Urinary_tract COSM3968243 KMT2D c.10413A>G p.Q3471Q Substitution - coding silent Central_nervous_system COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4694976 KDM4C c.1545_1546insTC p.V517fs*9 Insertion - Frameshift Large_intestine COSM5986521 KMT2D c.7248_7249ins15 p.L2416_R2417insTGTEL Insertion - In frame Haematopoietic_and_lymphoid_tissue COSM3755970 KDM6B c.4044G>A p.L1348L Substitution - coding silent Thyroid COSM3615213 PRDM9 c.1368C>T p.I456I Substitution - coding silent Skin COSM3521175 BPTF c.1804C>T p.L602F Substitution - Missense Skin COSM1041688 FXR1 c.337C>T p.R113W Substitution - Missense Endometrium COSM1125881 BRWD3 c.960G>T p.Q320H Substitution - Missense Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5705989 CHD2 c.62G>C p.S21T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3294809 ZMYND8 c.3531C>T p.L1177L Substitution - coding silent Breast COSM5603283 CREBBP c.6080C>T p.P2027L Substitution - Missense Skin COSM215940 WHSC1 c.3448A>G p.T1150A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5689050 EPC1 c.1062A>G p.Q354Q Substitution - coding silent Soft_tissue COSM1087554 KMT2C c.9454G>T p.D3152Y Substitution - Missense Endometrium COSM3714467 ZBTB38 c.3277C>T p.R1093C Substitution - Missense Upper_aerodigestive_tract COSM3717744 CHD3 c.5928G>A p.M1976I Substitution - Missense Liver COSM3441505 BTAF1 c.3757T>C p.L1253L Substitution - coding silent Skin COSM4787650 BRWD1 c.4298G>T p.R1433L Substitution - Missense Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM252979 CLOCK c.368delT p.L123fs*1 Deletion - Frameshift Large_intestine COSM3954778 ARID2 c.2310A>T p.P770P Substitution - coding silent Lung COSM427936 KAT6B c.452G>A p.R151Q Substitution - Missense Breast COSM3984294 ASH1L c.7636T>C p.S2546P Substitution - Missense Kidney COSM5762953 TET2 c.1452T>A p.C484* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1125085 HDAC8 c.667C>T p.R223W Substitution - Missense Large_intestine COSM5678839 RNF17 c.498C>G p.S166R Substitution - Missense Soft_tissue COSM3747935 AICDA c.431A>T p.Y144F Substitution - Missense Upper_aerodigestive_tract COSM3419157 ZMYM1 c.2318C>T p.S773F Substitution - Missense Large_intestine COSM75922 PHF21B c.838G>A p.A280T Substitution - Missense Kidney COSM1378310 CHD9 c.1583G>A p.R528H Substitution - Missense Large_intestine COSM3358523 PBRM1 c.2507_2528del22 p.R836fs*12 Deletion - Frameshift Kidney COSM3600232 PHF17 c.920C>T p.P307L Substitution - Missense Skin COSM1099961 MYST3 c.876T>C p.C292C Substitution - coding silent Endometrium COSM1021289 MSH6 c.2927G>A p.R976H Substitution - Missense Stomach COSM4134435 ASXL1 c.3759T>C p.S1253S Substitution - coding silent Soft_tissue COSM1253884 GTF3C4 c.2176A>G p.T726A Substitution - Missense Oesophagus COSM5590195 CHD7 c.4058C>T p.S1353F Substitution - Missense Skin COSM4818723 KDM3B c.2286C>G p.L762L Substitution - coding silent Cervix COSM4384068 NSD1 c.2893T>G p.S965A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1465246 ZBTB33 c.563_564insTGA p.D194_V195insD Insertion - In frame Upper_aerodigestive_tract COSM231549 DNMT3A c.2309C>T p.S770L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5651311 CBX2 c.587C>T p.P196L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM84489 SMARCA4 c.3469C>T p.R1157W Substitution - Missense Central_nervous_system COSM4427954 DHX30 c.1648C>A p.L550M Substitution - Missense Oesophagus COSM1469470 ATRX c.3490G>A p.D1164N Substitution - Missense Large_intestine COSM1004 SMARCB1 c.646G>T p.E216* Substitution - Nonsense Soft_tissue COSM1301093 INOC1 c.3721A>C p.K1241Q Substitution - Missense Urinary_tract COSM416564 UBR7 c.1278G>C p.*426Y Nonstop extension Urinary_tract COSM240690 KMT2D c.4285C>T p.R1429* Substitution - Nonsense Urinary_tract COSM3075953 BRPF3 c.359G>A p.R120H Substitution - Missense Large_intestine COSM3417928 TTF2 c.643G>T p.D215Y Substitution - Missense Large_intestine COSM140376 TDRD10 c.325C>T p.P109S Substitution - Missense Skin COSM3817964 CREBBP c.3860G>A p.G1287D Substitution - Missense Breast COSM433831 MGA c.2526delG p.G843fs*30 Deletion - Frameshift Breast COSM1021105 CAMKMT c.685A>G p.M229V Substitution - Missense Endometrium COSM1377534 SETD1A c.3141C>G p.S1047S Substitution - coding silent Large_intestine COSM985382 KDM6B c.2253_2258delCACCAC p.T761_T762delTT Deletion - In frame Upper_aerodigestive_tract COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1182542 ALKBH3 c.503A>C p.N168T Substitution - Missense Large_intestine COSM3501421 TP53BP1 c.3917C>T p.S1306F Substitution - Missense Skin COSM3922649 SND1 c.761C>T p.S254L Substitution - Missense Skin COSM971413 CHD9 c.1269C>T p.F423F Substitution - coding silent Endometrium COSM1075245 JARID2 c.1158C>G p.T386T Substitution - coding silent Endometrium COSM1026089 NCOA6 c.2762G>A p.R921Q Substitution - Missense Endometrium COSM5719369 ASH1L c.2433C>T p.S811S Substitution - coding silent Skin COSM4620116 AIRE c.278T>C p.L93P Substitution - Missense Large_intestine COSM1709990 RAI1 c.3649C>T p.R1217W Substitution - Missense Skin COSM212823 PRDM8 c.23G>C p.R8P Substitution - Missense Breast COSM4110871 TAF1 c.169G>A p.V57I Substitution - Missense Stomach COSM5964647 SUV39H2 c.351A>C p.P117P Substitution - coding silent Breast COSM1365143 ACTR6 c.936delT p.F314fs*6 Deletion - Frameshift Large_intestine COSM49157 EZH2 c.1505+1G>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3365844 BRD8 c.2742A>G p.E914E Substitution - coding silent Kidney COSM380717 KDM5C c.3820G>A p.E1274K Substitution - Missense Breast COSM3986938 KDM5A c.671A>G p.Q224R Substitution - Missense Kidney COSM4602358 ASXL3 c.1282G>C p.D428H Substitution - Missense Upper_aerodigestive_tract COSM926761 RAG2 c.449A>G p.K150R Substitution - Missense Endometrium COSM3794807 SETD1A c.4995G>A p.K1665K Substitution - coding silent Urinary_tract COSM2952721 TET2 c.1394C>T p.P465L Substitution - Missense Skin COSM442597 HDAC4 c.2306G>A p.G769E Substitution - Missense Breast COSM3401219 CHD8 c.4058C>G p.A1353G Substitution - Missense Central_nervous_system COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Biliary_tract COSM394345 HDAC9 c.1006G>T p.G336W Substitution - Missense Lung COSM4850058 KMT2D c.6199C>G p.Q2067E Substitution - Missense Cervix COSM41742 TET2 c.5152G>T p.V1718L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3644834 ATAD2 c.109A>C p.R37R Substitution - coding silent Skin COSM689352 PHRF1 c.3050G>T p.R1017L Substitution - Missense Lung COSM405183 PRDM12 c.570+1_570+2delGT p.? Unknown Central_nervous_system COSM4573059 PHF3 c.953T>C p.V318A Substitution - Missense Skin COSM96358 BAP1 c.2050C>T p.Q684* Substitution - Nonsense Kidney COSM41742 TET2 c.5152G>T p.V1718L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96515 CREBBP c.? p.? Unknown Ovary COSM5003825 SIRT1 c.800C>A p.S267* Substitution - Nonsense Pancreas COSM297688 KDM5C c.2662_2663insCC p.R888fs*48 Insertion - Frameshift Large_intestine COSM5468592 PRDM2 c.2497A>G p.K833E Substitution - Missense Large_intestine COSM4469901 POGZ c.1626C>T p.P542P Substitution - coding silent Skin COSM115931 NCOA1 c.391G>T p.G131W Substitution - Missense Ovary COSM4801866 SP140_ENST00000392045 c.1008T>C p.D336D Substitution - coding silent Liver COSM4528582 TDRKH c.1549G>A p.D517N Substitution - Missense Skin COSM221386 RBBP4 c.596A>G p.D199G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Central_nervous_system COSM255097 MEN1 c.272_275delCCCG p.R92fs*26 Deletion - Frameshift Parathyroid COSM4941174 EYA4 c.1744G>A p.E582K Substitution - Missense Liver COSM433415 ALKBH1 c.946G>C p.D316H Substitution - Missense Breast COSM4124017 WHSC1 c.3892C>A p.L1298I Substitution - Missense Stomach COSM4133536 SP140_ENST00000392045 c.2391G>A p.E797E Substitution - coding silent Thyroid COSM443930 NCOA5 c.35G>A p.R12Q Substitution - Missense Breast COSM43505 TET2 c.? p.R1516* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3691044 CHD9 c.5095C>T p.R1699* Substitution - Nonsense Large_intestine COSM1716637 ATRX c.1432delG p.V478fs*36 Deletion - Frameshift Central_nervous_system COSM2889312 ASXL1 c.4514A>T p.Q1505L Substitution - Missense Large_intestine COSM6008957 ARID2 c.2377C>T p.Q793* Substitution - Nonsense Large_intestine COSM1483848 ZGPAT c.226G>A p.D76N Substitution - Missense Breast COSM225885 KMT2C c.1139G>T p.R380L Substitution - Missense Soft_tissue COSM976121 RAI1 c.2639G>A p.S880N Substitution - Missense Endometrium COSM3494942 CHD8 c.3034C>T p.L1012F Substitution - Missense Skin COSM1195461 ATXN7 c.1787C>T p.A596V Substitution - Missense Lung COSM1464310 TDRD7 c.1985G>A p.C662Y Substitution - Missense Large_intestine COSM5346989 ARID1A c.6289G>T p.A2097S Substitution - Missense Endometrium COSM1469592 BRWD3 c.3061T>C p.S1021P Substitution - Missense Large_intestine COSM2879338 CXXC1 c.247C>T p.R83C Substitution - Missense Skin COSM1750346 JMJD6 c.219G>A p.L73L Substitution - coding silent Urinary_tract COSM135925 EP300 c.4355C>A p.P1452H Substitution - Missense Skin COSM462283 MECP2 c.666C>T p.V222V Substitution - coding silent Cervix COSM265774 BRPF1 c.1652G>A p.R551Q Substitution - Missense Large_intestine COSM97131 IDH1 c.532G>A p.V178I Substitution - Missense Thyroid COSM4807121 TRIM24 c.374T>C p.I125T Substitution - Missense Pancreas COSM3786741 HDAC6 c.976G>A p.V326I Substitution - Missense Pancreas COSM1190780 EHMT2 c.1034delA p.K345fs*9 Deletion - Frameshift Lung COSM422738 BAP1 c.430C>A p.H144N Substitution - Missense Kidney COSM3846389 ZBTB38 c.3508G>A p.E1170K Substitution - Missense Breast COSM1660732 BAZ1B c.2419G>C p.E807Q Substitution - Missense Kidney COSM4385262 EP300 c.4714G>A p.G1572R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM704904 NCOR1 c.1684G>A p.E562K Substitution - Missense Lung COSM3467598 ZMYM2 c.3405G>T p.E1135D Substitution - Missense Skin COSM4731011 SUZ12 c.2087_2088insA p.A697fs*7 Insertion - Frameshift Large_intestine COSM4666194 BRPF1 c.1805G>A p.R602Q Substitution - Missense Large_intestine COSM3380951 CLOCK c.136C>T p.R46C Substitution - Missense Pancreas COSM3809263 PHF21A c.988G>C p.E330Q Substitution - Missense Breast COSM1494003 BPTF c.7953T>A p.I2651I Substitution - coding silent Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4086765 HAT1 c.470T>G p.F157C Substitution - Missense Stomach COSM4674657 CREBBP c.536C>T p.A179V Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1683446 RAG2 c.508_509insA p.W172fs*3 Insertion - Frameshift Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1087659 KMT2C c.947C>G p.T316S Substitution - Missense Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5825604 ARID1A c.5040C>G p.L1680L Substitution - coding silent Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5607574 POGZ c.968C>T p.T323I Substitution - Missense Skin COSM3749492 DOT1L c.4156G>A p.G1386S Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5191454 SIRT5 c.314G>A p.R105Q Substitution - Missense Large_intestine COSM228110 KMT2C c.1042G>A p.D348N Substitution - Missense Large_intestine COSM1377459 SRCAP c.1800G>A p.T600T Substitution - coding silent Pancreas COSM4578096 SETD3 c.1512G>A p.E504E Substitution - coding silent Bone COSM448643 BRD8 c.3482G>A p.R1161Q Substitution - Missense Bone COSM3416253 RSF1 c.1648C>A p.L550I Substitution - Missense Large_intestine COSM3522598 JMJD6 c.663C>T p.T221T Substitution - coding silent Skin COSM23008 MEN1 c.194_219del26 p.P65fs*43 Deletion - Frameshift Parathyroid COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM4499739 C5orf35 c.549C>G p.L183L Substitution - coding silent Skin COSM385751 BRWD3 c.3267G>T p.W1089C Substitution - Missense Lung COSM3548809 DIDO1 c.1525C>T p.H509Y Substitution - Missense Skin COSM1440427 L3MBTL3 c.1483G>A p.A495T Substitution - Missense Large_intestine COSM5731839 ATRX c.3064C>T p.R1022* Substitution - Nonsense Soft_tissue COSM1457755 CHD7 c.8956delG p.D2988fs*3 Deletion - Frameshift Large_intestine COSM13398 MSH6 c.1168G>A p.D390N Substitution - Missense Large_intestine COSM3800514 RBBP7 c.1106A>T p.H369L Substitution - Missense Urinary_tract COSM3752612 MEN1 c.1254C>T p.D418D Substitution - coding silent Large_intestine COSM1299398 HDAC7 c.315C>G p.V105V Substitution - coding silent Urinary_tract COSM5613271 KAT6B c.5070G>T p.M1690I Substitution - Missense Lung COSM389573 PHF3 c.2760C>T p.S920S Substitution - coding silent Lung COSM5977857 PRDM2 c.159_160insA p.F56fs*7 Insertion - Frameshift Upper_aerodigestive_tract COSM4785701 BRD3 c.38C>T p.P13L Substitution - Missense Large_intestine COSM4443477 SMARCA5 c.2230G>A p.V744I Substitution - Missense Large_intestine COSM1267590 TDRD7 c.2356G>C p.D786H Substitution - Missense Oesophagus COSM5622205 ZBTB33 c.1129A>G p.I377V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4672072 CHD6 c.2151G>T p.K717N Substitution - Missense Large_intestine COSM115803 DIDO1 c.5435C>T p.S1812L Substitution - Missense Ovary COSM5987797 NSD1 c.2546C>T p.S849L Substitution - Missense Salivary_gland COSM86579 BAHCC1 c.7686G>T p.Q2562H Substitution - Missense Ovary COSM164494 SMYD1 c.1074G>A p.S358S Substitution - coding silent Pancreas COSM21300 TRRAP c.7323C>T p.F2441F Substitution - coding silent Skin COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Bone COSM30369 SETD2 c.2965C>T p.R989* Substitution - Nonsense Skin COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43007 EYA1 c.1082G>T p.R361L Substitution - Missense Central_nervous_system COSM85090 KMT2C c.13297G>A p.A4433T Substitution - Missense Stomach COSM51423 ARID1A c.1644_1645insC p.Y551fs*72 Insertion - Frameshift Endometrium COSM51446 ARID1A c.1177C>T p.Q393* Substitution - Nonsense Urinary_tract COSM51452 ARID1A c.5294_5294delA p.E1766fs*4 Deletion - Frameshift Ovary COSM51242 ARID1A c.2868_2868delC p.N956fs*12 Deletion - Frameshift Ovary COSM75542 KAT6B c.4118A>G p.E1373G Substitution - Missense Large_intestine COSM96297 ZMYM2 c.3018C>T p.I1006I Substitution - coding silent Prostate COSM96413 CREBBP c.2678C>T p.S893L Substitution - Missense Lung COSM131572 ASXL1 c.(2896_2901)del3 p.G967del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM162685 MUM1 c.76G>A p.A26T Substitution - Missense Breast COSM168758 TIF1 c.2059C>T p.R687* Substitution - Nonsense Endometrium COSM229114 ATAD2 c.2518G>A p.E840K Substitution - Missense Skin COSM227628 CXXC1 c.436C>T p.P146S Substitution - Missense Skin COSM241326 PYGO1 c.683C>A p.T228N Substitution - Missense Prostate COSM231559 DNMT3A c.1994T>G p.V665G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM255003 KDM6A c.3517T>A p.Y1173N Substitution - Missense Urinary_tract COSM41850 TET2 c.1630C>T p.R544* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM262472 NSD1 c.4366G>T p.D1456Y Substitution - Missense Stomach COSM310077 CHD3 c.3097T>C p.Y1033H Substitution - Missense Lung COSM400690 KMT2C c.944G>A p.G315D Substitution - Missense Thyroid COSM979847 HDAC5 c.3154G>A p.E1052K Substitution - Missense Endometrium COSM976129 RAI1 c.4032C>T p.F1344F Substitution - coding silent Endometrium COSM694493 SMARCC2 c.1258C>T p.Q420* Substitution - Nonsense Lung COSM679183 ACTA1 c.69C>T p.F23F Substitution - coding silent Oesophagus COSM938880 PRMT8 c.1144C>A p.L382M Substitution - Missense Endometrium COSM757507 ATRX c.4716G>A p.W1572* Substitution - Nonsense Lung COSM758047 UTY c.3846G>T p.E1282D Substitution - Missense Lung COSM704851 RAI1 c.3515G>T p.R1172L Substitution - Missense Lung COSM708195 AP001011.3_ENST00000320876 c.85T>A p.Y29N Substitution - Missense Lung COSM740192 L3MBTL3 c.701G>T p.W234L Substitution - Missense Lung COSM928931 GLYATL1 c.842G>A p.R281Q Substitution - Missense Skin COSM894482 TTF2 c.200A>G p.Q67R Substitution - Missense Endometrium COSM1067715 NIPBL c.6939T>C p.L2313L Substitution - coding silent Endometrium COSM1076451 HDGFL1 c.355C>T p.P119S Substitution - Missense Endometrium COSM1055643 GABRG1 c.756G>A p.T252T Substitution - coding silent Skin COSM3724491 SMARCA4 c.3496C>T p.Q1166* Substitution - Nonsense Ovary COSM1118573 RBBP7 c.25G>T p.D9Y Substitution - Missense Endometrium COSM1130117 BAHCC1 c.1246G>A p.V416M Substitution - Missense Prostate COSM1093716 TRRAP c.10314C>T p.F3438F Substitution - coding silent Endometrium COSM1228656 TBL1XR1 c.1186A>G p.T396A Substitution - Missense Large_intestine COSM1197180 JARID2 c.1364C>T p.S455L Substitution - Missense Lung COSM1256215 L3MBTL4 c.1343G>T p.G448V Substitution - Missense Oesophagus COSM1257663 MGA c.6402A>C p.E2134D Substitution - Missense Oesophagus COSM1606131 ARID2 c.799G>T p.E267* Substitution - Nonsense Liver COSM1284744 EP300 c.2743C>T p.R915C Substitution - Missense Oesophagus COSM1295051 POGZ c.3005G>A p.R1002H Substitution - Missense Large_intestine COSM1301885 SRCAP c.8278G>A p.E2760K Substitution - Missense Urinary_tract COSM1387299 BAHCC1 c.7221C>T p.S2407S Substitution - coding silent Large_intestine COSM1437262 NIPBL c.1801delA p.K603fs*11 Deletion - Frameshift Large_intestine COSM1439501 PRDM1 c.748C>T p.R250C Substitution - Missense Large_intestine COSM1463737 PHF2 c.2949A>T p.P983P Substitution - coding silent Liver COSM1355054 PHRF1 c.1438G>A p.V480M Substitution - Missense Large_intestine COSM1341399 ARID1A c.1800G>A p.P600P Substitution - coding silent Large_intestine COSM1608853 CHD2 c.1202A>G p.H401R Substitution - Missense Liver COSM1482078 BAZ2B c.6427G>A p.D2143N Substitution - Missense Breast COSM1614601 HDAC4 c.942C>T p.N314N Substitution - coding silent Liver COSM1625903 KDM6A c.963G>A p.W321* Substitution - Nonsense Breast COSM1732182 PBRM1 c.1843G>T p.E615* Substitution - Nonsense Kidney COSM1744912 KMT2C c.13549delA p.S4517fs*109 Deletion - Frameshift Biliary_tract COSM1745405 CREBBP c.2685delC p.Q897fs*30 Deletion - Frameshift Urinary_tract COSM2042555 SUV420H1 c.735T>C p.H245H Substitution - coding silent Upper_aerodigestive_tract COSM2209150 TDRD10 c.733G>A p.V245I Substitution - Missense Pancreas COSM2199999 SETD3 c.256G>A p.A86T Substitution - Missense Skin COSM2772191 TAF1L c.4772T>C p.V1591A Substitution - Missense Stomach COSM2919923 CREBBP c.5552G>A p.R1851H Substitution - Missense Large_intestine COSM3021602 JARID2 c.231G>T p.Q77H Substitution - Missense Large_intestine COSM3048244 SP110 c.1334A>G p.N445S Substitution - Missense Large_intestine COSM3142338 PRDM13 c.46T>A p.C16S Substitution - Missense Lung COSM3135588 LMNB1 c.1221T>C p.R407R Substitution - coding silent Stomach COSM3237273 KDM3B c.845A>G p.K282R Substitution - Missense Upper_aerodigestive_tract COSM3359768 KMT2D c.344T>A p.L115Q Substitution - Missense Kidney COSM3378263 AKAP1 c.2453C>T p.P818L Substitution - Missense Pancreas COSM3388565 SMARCA4 c.3236C>T p.S1079L Substitution - Missense Pancreas COSM3488222 PRDM16 c.1562C>T p.S521F Substitution - Missense Skin COSM3424202 EP300 c.97T>G p.F33V Substitution - Missense Large_intestine COSM3430488 EHMT2 c.2060C>T p.T687M Substitution - Missense Large_intestine COSM3626170 BRPF3 c.2330C>T p.A777V Substitution - Missense Skin COSM3606399 PRDM8 c.783C>T p.F261F Substitution - coding silent Skin COSM3608878 BRD8 c.3017C>T p.P1006L Substitution - Missense Skin COSM3608980 KDM3B c.2133C>T p.T711T Substitution - coding silent Skin COSM3557678 SMARCA1 c.2490A>G p.E830E Substitution - coding silent Skin COSM3523216 KDM6B c.2600C>T p.S867L Substitution - Missense Skin COSM3660364 FXR1 c.1568A>C p.E523A Substitution - Missense Liver COSM3717402 HDAC5 c.1317C>T p.H439H Substitution - coding silent Liver COSM3712014 SETD1A c.1280C>A p.P427H Substitution - Missense Upper_aerodigestive_tract COSM3712764 DNMT1 c.2813G>T p.G938V Substitution - Missense Upper_aerodigestive_tract COSM3759544 ATRX c.2785C>G p.Q929E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3749088 PWWP2B c.1032G>A p.E344E Substitution - coding silent Large_intestine COSM3781953 PRDM1 c.1489G>A p.A497T Substitution - Missense Pancreas COSM3846780 TBL1XR1 c.3G>C p.M1I Substitution - Missense Breast COSM3844199 RBBP7 c.1255G>A p.E419K Substitution - Missense Breast COSM3883758 TRRAP c.8067G>A p.T2689T Substitution - coding silent Stomach COSM4031010 ARID1A c.3469G>T p.G1157* Substitution - Nonsense Stomach COSM4021108 TTF2 c.1237C>T p.R413W Substitution - Missense Stomach COSM4008811 ORC1 c.1483C>T p.L495L Substitution - coding silent Stomach COSM4007131 TAF1L c.1647G>C p.K549N Substitution - Missense Urinary_tract COSM4107280 FMR1 c.1314T>C p.D438D Substitution - coding silent Stomach COSM4097557 ASXL1 c.2484C>T p.G828G Substitution - coding silent Stomach COSM4108014 MECP2 c.1456A>C p.S486R Substitution - Missense Stomach COSM4106532 SMARCA1 c.2774G>A p.R925K Substitution - Missense Stomach COSM4096114 KDM3A c.293A>G p.E98G Substitution - Missense Stomach COSM4119796 ATXN7 c.1276C>T p.H426Y Substitution - Missense Stomach COSM4138926 TAF1L c.2835A>T p.E945D Substitution - Missense Kidney COSM4147292 SMARCC2 c.3577A>C p.T1193P Substitution - Missense Prostate COSM4143992 KDM4A c.1445C>A p.A482E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4162018 KMT2C c.2315C>T p.S772L Substitution - Missense Upper_aerodigestive_tract COSM52840 PBRM1 c.4520T>A p.I1507N Substitution - Missense Kidney COSM4384861 IDH2 c.676G>A p.E226K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4401384 DIDO1 c.2581C>T p.P861S Substitution - Missense Skin COSM4413605 ARID1A c.4096C>T p.Q1366* Substitution - Nonsense Endometrium COSM4594560 KMT2C c.2591A>G p.E864G Substitution - Missense Upper_aerodigestive_tract COSM4549968 AKAP1 c.487G>T p.E163* Substitution - Nonsense Skin COSM4579719 EZH1 c.1146G>A p.E382E Substitution - coding silent Bone COSM4528347 ATF7IP c.152G>A p.G51E Substitution - Missense Skin COSM4508811 ATXN7 c.787C>T p.P263S Substitution - Missense Skin COSM4496191 DNMT3L c.469C>T p.R157W Substitution - Missense Skin COSM4592612 KAT2A c.1561G>C p.V521L Substitution - Missense Oesophagus COSM4475770 SUV420H1 c.2015C>T p.P672L Substitution - Missense Skin COSM4411130 PBRM1 c.4232G>TT p.R1411fs*11 Complex - frameshift Kidney COSM4663708 ASH2L c.1601A>C p.K534T Substitution - Missense Large_intestine COSM4770177 PBRM1 c.4576+5_4576+6insGAG p.? Unknown Soft_tissue COSM4767639 KMT2C c.8756C>G p.S2919* Substitution - Nonsense Biliary_tract COSM4725162 SETD2 c.522T>C p.P174P Substitution - coding silent Large_intestine COSM4768124 PRDM9 c.2380C>T p.H794Y Substitution - Missense Biliary_tract COSM4643066 JARID2 c.3500G>A p.R1167H Substitution - Missense Large_intestine COSM4653532 BRD1 c.2351G>A p.G784D Substitution - Missense Large_intestine COSM4610998 CREBBP c.4680_4682delAGA p.E1562delE Deletion - In frame Large_intestine COSM4654659 TRIM33 c.1842G>A p.Q614Q Substitution - coding silent Large_intestine COSM4888808 PHF2 c.818C>A p.P273Q Substitution - Missense Upper_aerodigestive_tract COSM4844906 STK31 c.2314G>A p.E772K Substitution - Missense Cervix COSM5019221 TRIM33 c.1303-10delT p.? Unknown Soft_tissue COSM5009480 KMT2C c.8040G>A p.Q2680Q Substitution - coding silent Large_intestine COSM5037485 YY1 c.345C>T p.G115G Substitution - coding silent Large_intestine COSM5162544 KDM4B c.150C>T p.P50P Substitution - coding silent Large_intestine COSM5346917 ARID1A c.6704_6719del16 p.R2236fs*26 Deletion - Frameshift Endometrium COSM5406606 TIF1 c.632-1G>A p.? Unknown Skin COSM5392889 BRWD1 c.5419C>T p.H1807Y Substitution - Missense Skin COSM5374396 HNF1A c.1841A>G p.N614S Substitution - Missense Skin COSM5359647 KIAA2026_ENST00000399933 c.5562G>A p.S1854S Substitution - coding silent Large_intestine COSM5495753 MTF2 c.1507C>G p.L503V Substitution - Missense Biliary_tract COSM5478707 ARID4A c.117+3A>C p.? Unknown Large_intestine COSM5628428 FTO c.384C>A p.T128T Substitution - coding silent Oesophagus COSM5633083 DOT1L c.2343G>C p.L781L Substitution - coding silent Oesophagus COSM5721608 PWWP2B c.1669C>T p.R557C Substitution - Missense Skin COSM5578517 EYA4 c.1255A>C p.T419P Substitution - Missense Skin COSM5599045 AIRE c.623G>A p.G208E Substitution - Missense Skin COSM5593051 SETD4 c.1158C>T p.F386F Substitution - coding silent Skin COSM5613502 HNF1A c.1378C>A p.Q460K Substitution - Missense Lung COSM5581669 KMT2D c.14298delT p.H4766fs*15 Deletion - Frameshift Skin COSM5751083 TDRD6 c.5612C>T p.P1871L Substitution - Missense Stomach COSM5767281 PHC1 c.1194G>A p.Q398Q Substitution - coding silent Breast COSM5774044 TRDMT1 c.968T>C p.L323P Substitution - Missense Breast COSM5796587 PHF16 c.394G>T p.A132S Substitution - Missense Breast COSM5925807 PRMT5 c.1018-7C>T p.? Unknown Skin COSM5956210 GLYR1 c.1556A>G p.H519R Substitution - Missense Upper_aerodigestive_tract COSM5954882 SCMH1 c.1622G>A p.G541E Substitution - Missense Upper_aerodigestive_tract COSM5967644 SND1 c.2455C>T p.R819W Substitution - Missense Autonomic_ganglia COSM5996766 TDRD6 c.2801T>C p.L934P Substitution - Missense Prostate COSM5984476 SETD1A c.279G>A p.L93L Substitution - coding silent Upper_aerodigestive_tract COSM1169704 TET2 c.? p.N275fs*18 Frameshift Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM166348 DNMT3A c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM250088 EZH2 c.? p.L727fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM5006576 BAP1 c.?_?ins? p.?fs*? Insertion - Frameshift Kidney COSM723116 ASXL1 c.3633C>A p.D1211E Substitution - Missense Lung COSM4677374 DHX30 c.2374T>G p.Y792D Substitution - Missense Large_intestine COSM1726779 PRDM10 c.1075G>T p.E359* Substitution - Nonsense Liver COSM947884 PHF11 c.445C>T p.R149* Substitution - Nonsense Endometrium COSM36248 IDH1 c.? p.R132? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4806006 MEN1 c.22A>T p.K8* Substitution - Nonsense Liver COSM1169636 DNMT3A c.914G>A p.W305* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4172553 MSH6 c.? p.S394F Substitution - Missense Skin COSM282742 MEAF6 c.516G>T p.K172N Substitution - Missense Large_intestine COSM3909075 PHF2 c.649T>C p.W217R Substitution - Missense Stomach COSM3774469 RERE c.2343C>T p.A781A Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1737876 ASXL1 c.2125G>A p.A709T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1355397 MTA2 c.307C>T p.R103W Substitution - Missense Large_intestine COSM4720044 RAI1 c.877C>A p.L293I Substitution - Missense Large_intestine COSM5928110 MTF2 c.919G>A p.E307K Substitution - Missense Skin COSM4047973 PHF11 c.619G>T p.E207* Substitution - Nonsense Stomach COSM3733522 NCOR1 c.59A>C p.Y20S Substitution - Missense Large_intestine COSM3376429 KMT2D c.8641G>A p.G2881S Substitution - Missense Pancreas COSM314669 RAG2 c.1246T>A p.W416R Substitution - Missense Soft_tissue COSM5735623 SETDB1 c.1001A>G p.E334G Substitution - Missense Small_intestine COSM51465 ARID1A c.6196A>G p.N2066D Substitution - Missense Ovary COSM4476095 BRPF3 c.2040C>T p.V680V Substitution - coding silent Skin COSM3488230 PRDM16 c.2351C>T p.P784L Substitution - Missense Skin COSM3510233 CHD9 c.5675C>T p.S1892F Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Skin COSM1088804 CBX3 c.93C>T p.V31V Substitution - coding silent Prostate COSM1100785 CHD7 c.1155G>A p.Q385Q Substitution - coding silent Endometrium COSM241717 SP110 c.1400C>A p.T467N Substitution - Missense Prostate COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Skin COSM456021 KIAA2026_ENST00000399933 c.553C>T p.L185L Substitution - coding silent Breast COSM1378353 FTO c.278C>T p.P93L Substitution - Missense Large_intestine COSM1179107 KMT2C c.851G>A p.R284Q Substitution - Missense Prostate COSM1737964 TET2 c.3765C>G p.Y1255* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM94115 TET1 c.5143G>A p.D1715N Substitution - Missense Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM1076383 KDM1B c.996C>A p.F332L Substitution - Missense Endometrium COSM3385155 SETDB1 c.1783C>T p.R595W Substitution - Missense Pancreas COSM5799798 SCML2 c.1327T>G p.S443A Substitution - Missense Breast COSM4040266 EP400 c.4767G>A p.P1589P Substitution - coding silent Stomach COSM3643072 ZCWPW1 c.1759G>A p.E587K Substitution - Missense Skin COSM4080142 PRMT1 c.135C>T p.D45D Substitution - coding silent Stomach COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4160047 BRD9 c.902T>C p.V301A Substitution - Missense Genital_tract COSM3800395 SMARCA1 c.1099-2A>G p.? Unknown Urinary_tract COSM110706 ASXL1 c.1969G>T p.E657* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4442255 CHD7 c.5539G>T p.E1847* Substitution - Nonsense Large_intestine COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4099055 EYA2 c.1461A>G p.I487M Substitution - Missense Stomach COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM85916 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4618925 SMC1A c.3316C>T p.P1106S Substitution - Missense Large_intestine COSM3958886 CHD3 c.31G>T p.A11S Substitution - Missense Lung COSM1383604 HDAC5 c.923C>T p.S308L Substitution - Missense Large_intestine COSM5785290 BRPF3 c.2810G>A p.G937E Substitution - Missense Breast COSM4649340 UHRF2 c.351C>T p.A117A Substitution - coding silent Large_intestine COSM246560 PHC2 c.2298G>T p.Q766H Substitution - Missense Prostate COSM2153019 TFPT c.218G>A p.R73H Substitution - Missense Central_nervous_system COSM5819272 BPTF c.874A>T p.K292* Substitution - Nonsense Liver COSM3425268 EPC2 c.235G>A p.A79T Substitution - Missense Large_intestine COSM145111 ARID1A c.1223C>T p.P408L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1315852 EZH2 c.1487A>G p.K496R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM468038 EP400 c.8229G>A p.Q2743Q Substitution - coding silent Thyroid COSM5881277 BTAF1 c.578C>T p.A193V Substitution - Missense Soft_tissue COSM150918 EP300 c.5030_5036delTGGAGAC p.V1677fs*30 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4728335 SMARCC2 c.2710C>T p.R904W Substitution - Missense Large_intestine COSM755438 SMARCA1 c.513T>A p.F171L Substitution - Missense Lung COSM1177037 TBL1XR1 c.1387G>A p.D463N Substitution - Missense Endometrium COSM2848366 GABRG1 c.1292G>A p.R431K Substitution - Missense Pancreas COSM3555272 PHF21B c.549C>T p.I183I Substitution - coding silent Skin COSM3294352 NCOA5 c.95G>A p.R32Q Substitution - Missense Pancreas COSM5399497 SMARCC1 c.1120C>T p.P374S Substitution - Missense Skin COSM1385435 BPTF c.6156C>T p.I2052I Substitution - coding silent Large_intestine COSM4891252 SMARCA4 c.2573C>T p.T858M Substitution - Missense Upper_aerodigestive_tract COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5643547 SMARCA4 c.1961G>A p.R654K Substitution - Missense Oesophagus COSM437713 CHD3 c.664G>C p.E222Q Substitution - Missense Breast COSM4681107 EP400 c.1732G>A p.A578T Substitution - Missense Large_intestine COSM1579153 BMI1 c.971C>A p.S324Y Substitution - Missense Breast COSM3307087 HDAC9 c.932G>A p.R311H Substitution - Missense Large_intestine COSM5439312 SMCHD1 c.1339C>G p.Q447E Substitution - Missense Oesophagus COSM4767296 ADNP c.3205A>T p.I1069F Substitution - Missense Stomach COSM3555049 TCF20 c.4584C>T p.F1528F Substitution - coding silent Skin COSM1722783 TCF20 c.2443C>T p.P815S Substitution - Missense Skin COSM1296220 ARID1A c.1696C>T p.Q566* Substitution - Nonsense Cervix COSM421603 SND1 c.943G>C p.E315Q Substitution - Missense Urinary_tract COSM4170441 KMT2D c.3814C>T p.Q1272* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4383762 TET2 c.510delC p.C171fs*12 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2154557 PRDM9 c.710G>A p.R237H Substitution - Missense Central_nervous_system COSM1245988 BAG6 c.553-10C>T p.? Unknown Oesophagus COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5878799 DNMT3A c.1898C>A p.P633H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM166410 CREBBP c.1744_1745CC>TTT p.P582fs*4 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM319394 CDYL c.143T>C p.V48A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1479018 PRMT7 c.1359C>G p.N453K Substitution - Missense Breast COSM5499263 CHD9 c.8194C>T p.L2732L Substitution - coding silent Biliary_tract COSM4104931 BRD1 c.2819A>G p.Y940C Substitution - Missense Stomach COSM3933907 DIDO1 c.4351G>C p.D1451H Substitution - Missense Urinary_tract COSM3399118 APOBEC1 c.73G>A p.V25I Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5786038 TP53BP1 c.1374+1G>A p.? Unknown Breast COSM4728271 SMARCA2 c.708A>G p.Q236Q Substitution - coding silent Large_intestine COSM2068407 KDM5A c.417G>A p.W139* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4770791 BAP1 c.1957G>T p.E653* Substitution - Nonsense Pleura COSM5991599 PHF6 c.904_904delC p.H302fs*49 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4920514 SETDB1 c.810T>C p.D270D Substitution - coding silent Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4040256 EP400 c.4400G>A p.R1467Q Substitution - Missense Urinary_tract COSM3629180 PHF3 c.4021C>T p.L1341L Substitution - coding silent Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1065 SMARCB1 c.950delG p.G317fs*3 Deletion - Frameshift Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1308230 TCF20 c.720C>T p.S240S Substitution - coding silent Thyroid COSM402552 BRD9 c.700G>T p.G234W Substitution - Missense Lung COSM4512261 TDRD6 c.897C>T p.T299T Substitution - coding silent Skin COSM1239414 MBD3 c.302T>C p.V101A Substitution - Missense Oesophagus COSM42013 TET2 c.5456T>G p.L1819* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1019171 NCOA1 c.2946G>A p.L982L Substitution - coding silent Endometrium COSM355879 MSL3 c.1058G>C p.R353P Substitution - Missense Lung COSM259539 ATAD2B_ENST00000238789 c.1733G>T p.R578I Substitution - Missense Thyroid COSM1360186 EP400 c.8178A>G p.Q2726Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5880164 RUVBL1 c.214C>T p.P72S Substitution - Missense Skin COSM119968 MEN1 c.1073A>G p.E358G Substitution - Missense Ovary COSM1626374 PRDM2 c.3564G>T p.G1188G Substitution - coding silent Large_intestine COSM147497 KMT2D c.2015-8C>T p.? Unknown Soft_tissue COSM6011567 TET2 c.4818T>C p.G1606G Substitution - coding silent Skin COSM4512961 KMT2D c.8414C>T p.S2805L Substitution - Missense Skin COSM3713936 BRWD3 c.3352G>T p.G1118C Substitution - Missense Upper_aerodigestive_tract COSM422497 TAF1 c.1417G>C p.E473Q Substitution - Missense Urinary_tract COSM4032782 ALKBH3 c.296T>C p.V99A Substitution - Missense Stomach COSM4311375 HDAC4 c.412C>T p.R138C Substitution - Missense Cervix COSM1606145 ARID2 c.4427_4428insT p.V1477fs*26 Insertion - Frameshift Liver COSM5893977 ASXL3 c.2470C>T p.R824* Substitution - Nonsense Skin COSM1502574 ARID1A c.4735C>T p.Q1579* Substitution - Nonsense Oesophagus COSM5048801 KMT2A c.1948A>C p.N650H Substitution - Missense Oesophagus COSM1184489 BAZ2A c.5485C>T p.R1829W Substitution - Missense Large_intestine COSM1624851 SMARCA2 c.2983G>C p.D995H Substitution - Missense Liver COSM5416067 CHD8 c.3216T>C p.L1072L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM338257 ORC1 c.2086C>A p.H696N Substitution - Missense Lung COSM1074190 SHPRH c.3570G>T p.E1190D Substitution - Missense Endometrium COSM4819888 NSD1 c.3522G>A p.M1174I Substitution - Missense Cervix COSM4185990 KDM5C c.2347G>T p.V783L Substitution - Missense Kidney COSM1308859 FXR1 c.272T>A p.F91Y Substitution - Missense Urinary_tract COSM4802409 SRCAP c.8848A>G p.I2950V Substitution - Missense Liver COSM3933225 TRIM28 c.1752T>G p.G584G Substitution - coding silent Urinary_tract COSM4969648 NCOA2 c.3347A>G p.Q1116R Substitution - Missense Central_nervous_system COSM1682288 EP300 c.4319C>T p.P1440L Substitution - Missense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1284111 CHD8 c.1138C>T p.Q380* Substitution - Nonsense Autonomic_ganglia COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3785385 NCOA6 c.1831G>A p.G611S Substitution - Missense Pancreas COSM1169639 DNMT3A c.55C>T p.R19W Substitution - Missense Soft_tissue COSM1377475 SRCAP c.5626delC p.P1878fs*89 Deletion - Frameshift Stomach COSM1049746 TET2 c.1299A>G p.E433E Substitution - coding silent Endometrium COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM198796 PHF2 c.1468delA p.K492fs*6 Deletion - Frameshift Large_intestine COSM1709080 SRCAP c.7223G>A p.G2408E Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3392199 MECOM c.914G>C p.G305A Substitution - Missense Pancreas COSM1581043 IDH1 c.94T>G p.F32V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4949469 ARID2 c.3277C>T p.P1093S Substitution - Missense Liver COSM5631384 ZMYM3 c.2637G>A p.M879I Substitution - Missense Oesophagus COSM5404294 NCOA7 c.2076G>A p.W692* Substitution - Nonsense Skin COSM336559 DOT1L c.4328G>T p.G1443V Substitution - Missense Lung COSM4804454 TRRAP c.9925A>T p.R3309W Substitution - Missense Liver COSM4895916 BRDT c.892C>T p.P298S Substitution - Missense Skin COSM3820851 CBX4 c.530A>G p.H177R Substitution - Missense Breast COSM315773 TAF3 c.175A>G p.T59A Substitution - Missense Lung COSM4097815 NCOA6 c.781C>T p.Q261* Substitution - Nonsense Stomach COSM4993701 ARID1B c.780_782delAGG p.G261delG Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM96434 EP300 c.? p.E1014* Substitution - Nonsense Large_intestine COSM5944515 TET2 c.4009_4010insA p.Y1337fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5043313 TCF20 c.859C>A p.Q287K Substitution - Missense Liver COSM244329 EYA1 c.1702G>A p.A568T Substitution - Missense Prostate COSM480388 PBRM1 c.1840C>G p.L614V Substitution - Missense Kidney COSM5721663 TRIM66 c.3380C>T p.S1127F Substitution - Missense Skin COSM3413502 EHMT1 c.1071C>A p.A357A Substitution - coding silent Central_nervous_system COSM3950205 KMT2C c.7443-6T>A p.? Unknown Lung COSM3531403 DOT1L c.674C>T p.S225L Substitution - Missense Skin COSM4610436 TBL1XR1 c.920A>T p.H307L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM126803 KMT2D c.3385C>T p.Q1129* Substitution - Nonsense Upper_aerodigestive_tract COSM740323 JARID2 c.2078G>A p.R693Q Substitution - Missense Lung COSM2156567 PRDM9 c.2348G>A p.R783Q Substitution - Missense Central_nervous_system COSM252643 NCOA5 c.1004G>A p.R335H Substitution - Missense Ovary COSM756013 FMR1 c.1361G>C p.R454P Substitution - Missense Lung COSM125571 PRDM9 c.2273G>A p.R758H Substitution - Missense Upper_aerodigestive_tract COSM6004914 BRD1 c.2342C>G p.P781R Substitution - Missense Prostate COSM4921149 ARID2 c.4245T>G p.I1415M Substitution - Missense Liver COSM5013946 MGA c.5977T>C p.F1993L Substitution - Missense Kidney COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM1168673 ARID1A c.2465_2466insT p.Y823fs*49 Insertion - Frameshift Pancreas COSM5620346 BAZ2B c.4780T>C p.S1594P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4480836 GTF3C1 c.245C>G p.T82S Substitution - Missense Skin COSM3816387 PYGO1 c.290G>A p.G97D Substitution - Missense Breast COSM1935761 SMARCC2 c.2431G>T p.E811* Substitution - Nonsense Lung COSM5030943 KDM6A c.1124A>G p.Y375C Substitution - Missense Kidney COSM2038978 MTA2 c.1438C>T p.R480* Substitution - Nonsense Skin COSM310683 DNMT3L c.999C>G p.S333R Substitution - Missense Lung COSM3422108 AP001011.3_ENST00000320876 c.4957G>T p.E1653* Substitution - Nonsense Large_intestine COSM3873503 BRPF3 c.1270G>A p.E424K Substitution - Missense Stomach COSM366610 TDRD6 c.5154G>T p.Q1718H Substitution - Missense Lung COSM250959 GABRG1 c.580A>T p.N194Y Substitution - Missense Liver COSM5736590 SETD2 c.5869G>A p.A1957T Substitution - Missense Small_intestine COSM240701 MLL5 c.4193_4194delAG p.E1398fs*9 Deletion - Frameshift Prostate COSM2812144 SETBP1 c.4329delA p.T1445fs*6 Deletion - Frameshift Large_intestine COSM346809 PRDM9 c.2469G>T p.Q823H Substitution - Missense Lung COSM4915111 PRDM16 c.3095A>T p.H1032L Substitution - Missense Liver COSM302379 HNF1A c.153C>A p.G51G Substitution - coding silent Central_nervous_system COSM3341175 NSD1 c.4966G>T p.G1656C Substitution - Missense Upper_aerodigestive_tract COSM3405288 ZGPAT c.1470G>A p.A490A Substitution - coding silent Central_nervous_system COSM4951169 ARID2 c.5131C>T p.Q1711* Substitution - Nonsense Liver COSM4135815 CLOCK c.1283C>G p.P428R Substitution - Missense Ovary COSM5559562 BAP1 c.1286T>G p.L429W Substitution - Missense Prostate COSM3661226 PRDM8 c.1620C>T p.A540A Substitution - coding silent Liver COSM27948 SMARCB1 c.564_565insGGTCCCC p.I189fs*24 Insertion - Frameshift Central_nervous_system COSM972486 CTCF c.1094A>C p.K365T Substitution - Missense Endometrium COSM1750346 JMJD6 c.219G>A p.L73L Substitution - coding silent Urinary_tract COSM2866516 TRRAP c.2021C>T p.S674F Substitution - Missense Skin COSM4590784 ATF7IP c.2647C>A p.Q883K Substitution - Missense Upper_aerodigestive_tract COSM37029 EZH2 c.1937A>C p.Y646S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3751149 PHC2 c.2547C>T p.Y849Y Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3419900 ARID4A c.2427T>G p.I809M Substitution - Missense Large_intestine COSM4831808 ZMYM3 c.186C>A p.T62T Substitution - coding silent Cervix COSM3523239 CBX8 c.144C>T p.I48I Substitution - coding silent Skin COSM3833178 BAZ1B c.393G>A p.K131K Substitution - coding silent Breast COSM1124801 ZMYM3 c.3239C>T p.A1080V Substitution - Missense Endometrium COSM86083 KMT2C c.5823A>T p.T1941T Substitution - coding silent Breast COSM1196158 KDM5C c.938G>A p.R313Q Substitution - Missense Skin COSM5789205 JARID2 c.1941C>T p.L647L Substitution - coding silent Breast COSM4618206 L3MBTL2 c.1015C>T p.R339C Substitution - Missense Large_intestine COSM1355929 DPF2 c.892_893delTG p.C298fs*41 Deletion - Frameshift Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1495573 SETD2 c.3420C>T p.N1140N Substitution - coding silent Kidney COSM213224 JARID2 c.1858C>T p.R620C Substitution - Missense Breast COSM3796177 KDM6B c.2239C>G p.P747A Substitution - Missense Urinary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4147094 KMT2D c.13512G>A p.W4504* Substitution - Nonsense Thyroid COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5958221 SRCAP c.806C>T p.S269F Substitution - Missense Thyroid COSM4639415 NCOR1 c.1049G>A p.R350Q Substitution - Missense Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4732908 TDRD6 c.576G>T p.R192R Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3153135 EP300 c.3241C>T p.P1081S Substitution - Missense Oesophagus COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5497008 SMEK2 c.22G>C p.V8L Substitution - Missense Biliary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4636980 L3MBTL4 c.1361A>C p.N454T Substitution - Missense Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3662137 L3MBTL3 c.2028T>G p.F676L Substitution - Missense Liver COSM1936430 BAZ2A_ENST00000379441 c.5663G>A p.R1888H Substitution - Missense Large_intestine COSM446860 SFMBT1 c.1293T>G p.S431R Substitution - Missense Breast COSM270200 SMCHD1 c.2080C>T p.R694* Substitution - Nonsense Large_intestine COSM2758212 NCOA6 c.1464C>T p.N488N Substitution - coding silent Upper_aerodigestive_tract COSM85598 MLL5 c.1661delC p.P554fs*6 Deletion - Frameshift Pancreas COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM3547197 NCOA5 c.1397C>T p.S466F Substitution - Missense Skin COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2206333 PRMT8 c.306C>T p.S102S Substitution - coding silent Skin COSM1716415 CTCF c.610delA p.T204fs*18 Deletion - Frameshift Endometrium COSM1243704 TRRAP c.7891G>A p.A2631T Substitution - Missense Large_intestine COSM33732 IDH2 c.515G>T p.R172M Substitution - Missense Central_nervous_system COSM4592287 SP140_ENST00000392045 c.1948C>G p.P650A Substitution - Missense Upper_aerodigestive_tract COSM4768617 KMT2C c.1038G>A p.V346V Substitution - coding silent Oesophagus COSM4622623 ARID2 c.966T>C p.S322S Substitution - coding silent Large_intestine COSM4095563 SMYD5 c.899C>T p.T300I Substitution - Missense Stomach COSM4054561 MGA c.4297C>T p.Q1433* Substitution - Nonsense Stomach COSM3487926 PRDM16 c.274C>T p.P92S Substitution - Missense Skin COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Cervix COSM3153115 EP300 c.2182C>T p.R728W Substitution - Missense Stomach COSM5025065 BPTF c.1742_1743insA p.N581fs*2 Insertion - Frameshift Breast COSM3669687 SND1 c.2477G>T p.C826F Substitution - Missense Liver COSM5444955 SETBP1 c.699G>A p.Q233Q Substitution - coding silent Oesophagus COSM2076867 PRDM16 c.109G>A p.E37K Substitution - Missense Skin COSM2965370 KDM6A c.2040C>T p.N680N Substitution - coding silent Upper_aerodigestive_tract COSM3389753 CHD6 c.2158T>G p.S720A Substitution - Missense Pancreas COSM1167991 ARID2 c.890C>T p.S297F Substitution - Missense Skin COSM20550 TRRAP c.477A>G p.K159K Substitution - coding silent Stomach COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Skin COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41716 ASXL1 c.1888_1909del22 p.H630fs*66 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM51420 ARID1A c.5540_5541insG p.G1848fs*6 Insertion - Frameshift Ovary COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Pancreas COSM53207 ASXL1 c.2387G>A p.W796* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM72934 TCF20 c.3640C>T p.P1214S Substitution - Missense Ovary COSM97085 ASXL1 c.2388G>A p.W796* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM109923 TCF20 c.4682C>T p.P1561L Substitution - Missense Skin COSM87130 TET2 c.3781C>T p.R1261C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Skin COSM146933 ERCC6 c.3689G>C p.R1230P Substitution - Missense Soft_tissue COSM146944 JMJD1C c.890C>G p.T297S Substitution - Missense Stomach COSM169326 NCOA2 c.926C>T p.A309V Substitution - Missense Endometrium COSM174860 ARID1B c.6328C>T p.R2110* Substitution - Nonsense Stomach COSM211719 TET2 c.3764_3765insA p.Y1255fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM211756 TET2 c.3243_3243delA p.E1082fs*24 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM216053 KMT2C c.2961C>G p.Y987* Substitution - Nonsense Thyroid COSM222651 LBR c.730C>T p.P244S Substitution - Missense Skin COSM239317 CHD8 c.4906G>A p.G1636R Substitution - Missense Prostate COSM267026 NIPBL c.2128C>T p.R710W Substitution - Missense Large_intestine COSM269996 RAI1 c.904A>C p.T302P Substitution - Missense Large_intestine COSM41850 TET2 c.1630C>T p.R544* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM356820 SRCAP c.2841C>T p.D947D Substitution - coding silent Lung COSM419518 TCF20 c.1427C>A p.S476Y Substitution - Missense Urinary_tract COSM428502 KMT2A c.9168G>A p.P3056P Substitution - coding silent Breast COSM430755 EP400 c.3646C>T p.H1216Y Substitution - Missense Breast COSM1015577 IDH1 c.753C>T p.I251I Substitution - coding silent Skin COSM940026 KMT2D c.8786G>A p.S2929N Substitution - Missense Endometrium COSM746377 STK31 c.3026A>T p.K1009M Substitution - Missense Lung COSM757642 TAF1 c.2032C>G p.L678V Substitution - Missense Lung COSM753637 TAF1L c.3433C>T p.R1145W Substitution - Missense Large_intestine COSM726779 BRD1 c.1098C>A p.P366P Substitution - coding silent Lung COSM1000958 TFPT c.444G>A p.T148T Substitution - coding silent Endometrium COSM1067074 PRDM9 c.907G>T p.E303* Substitution - Nonsense Endometrium COSM1076160 PHF10 c.648C>T p.G216G Substitution - coding silent Endometrium COSM1066203 NSD1 c.1452A>G p.E484E Substitution - coding silent Endometrium COSM3724471 ARID1A c.5186G>A p.G1729D Substitution - Missense Large_intestine COSM1128821 NCOR1 c.3696T>G p.T1232T Substitution - coding silent Prostate COSM1088167 HDAC9 c.1352G>A p.R451Q Substitution - Missense Prostate COSM1194640 KDM5A c.1917G>T p.L639F Substitution - Missense Lung COSM1235024 PHF6 c.807_808insGGCCCCTC p.Q270fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1267544 TCF19 c.696G>A p.A232A Substitution - coding silent Breast COSM1221890 PRDM2 c.1220G>A p.R407Q Substitution - Missense Large_intestine COSM1226805 SMC1A c.1526G>A p.R509H Substitution - Missense Large_intestine COSM1188596 PRDM4 c.610A>G p.I204V Substitution - Missense Lung COSM1326697 NCOA3 c.2154C>T p.D718D Substitution - coding silent Ovary COSM1423176 SETMAR c.96C>T p.C32C Substitution - coding silent Large_intestine COSM1429112 WHSC1 c.4021delC p.P1343fs*>23 Deletion - Frameshift Large_intestine COSM1449454 KMT2C c.3292G>T p.D1098Y Substitution - Missense Large_intestine COSM1363342 MBD6 c.1531C>A p.P511T Substitution - Missense Large_intestine COSM1609459 SETD6 c.901+2T>C p.? Unknown Liver COSM1609222 MYST1 c.132G>T p.P44P Substitution - coding silent Liver COSM1627220 RERE c.999A>T p.A333A Substitution - coding silent Liver COSM1583064 DNMT3A c.1489T>G p.C497G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1623570 ATAD2 c.3478+8C>T p.? Unknown Liver COSM1673019 ACTB c.776A>C p.E259A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1673371 ZCWPW1 c.1348G>T p.G450* Substitution - Nonsense Large_intestine COSM1713335 DNMT3B c.1750A>T p.I584F Substitution - Missense Skin COSM1699617 KMT2C c.13016A>G p.H4339R Substitution - Missense Skin COSM1728784 ARID2 c.1716-2A>T p.? Unknown Liver COSM1743611 KDM2A c.1144C>G p.P382A Substitution - Missense Biliary_tract COSM1749559 SRCAP c.6G>A p.Q2Q Substitution - coding silent Urinary_tract COSM1756430 FMR1 c.581C>T p.T194I Substitution - Missense Urinary_tract COSM1741154 ZBTB33 c.580_581insTAT p.D194>VY Complex - insertion inframe Haematopoietic_and_lymphoid_tissue COSM42037 TET2 c.4210C>T p.R1404* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1756794 CHD4 c.5516C>G p.S1839* Substitution - Nonsense Urinary_tract COSM2150848 GLYATL1 c.994C>T p.P332S Substitution - Missense Central_nervous_system COSM2153462 CDY1B c.1213G>A p.V405M Substitution - Missense Central_nervous_system COSM2909113 HDAC4 c.2804C>T p.A935V Substitution - Missense Large_intestine COSM3307232 HDAC9 c.2009G>A p.R670Q Substitution - Missense Skin COSM3376076 ACTR6 c.1061+5G>A p.? Unknown Pancreas COSM3410253 NIPBL c.8067A>G p.K2689K Substitution - coding silent Central_nervous_system COSM3487579 ARID1A c.2327C>T p.P776L Substitution - Missense Skin COSM3494954 CHD8 c.1109C>T p.T370I Substitution - Missense Skin COSM3500904 BAHD1 c.2325C>T p.I775I Substitution - coding silent Skin COSM3431092 PHF14 c.643C>T p.R215* Substitution - Nonsense Large_intestine COSM3460343 PRMT8 c.1057G>A p.E353K Substitution - Missense Skin COSM3604090 GABRG1 c.742G>A p.E248K Substitution - Missense Skin COSM3527178 L3MBTL4 c.264G>A p.M88I Substitution - Missense Skin COSM3525869 SETBP1 c.2825G>A p.R942Q Substitution - Missense Skin COSM3697357 CHD1 c.397G>A p.D133N Substitution - Missense Large_intestine COSM3735016 SMARCA4 c.1378C>T p.Q460* Substitution - Nonsense Ovary COSM3741053 LBR c.996G>A p.A332A Substitution - coding silent Liver COSM3841211 ZMYND8 c.119G>T p.R40I Substitution - Missense Breast COSM3912913 TCF20 c.4174C>T p.P1392S Substitution - Missense Skin COSM3874621 CDYL c.1057A>G p.T353A Substitution - Missense Stomach COSM3975520 NIPBL c.4328C>G p.S1443* Substitution - Nonsense Central_nervous_system COSM3956640 TP53BP1 c.5243G>A p.R1748H Substitution - Missense Skin COSM4015918 KAT6B c.3502C>T p.P1168S Substitution - Missense Stomach COSM3988469 CREBBP c.3512C>T p.T1171I Substitution - Missense Kidney COSM3984936 ARID1A c.3037G>A p.E1013K Substitution - Missense Kidney COSM4099091 NCOA3 c.295G>A p.D99N Substitution - Missense Stomach COSM4130749 KDM6B c.807T>C p.A269A Substitution - coding silent Thyroid COSM4599296 EP300 c.1192C>T p.Q398* Substitution - Nonsense Upper_aerodigestive_tract COSM4490425 PHF1 c.363C>A p.P121P Substitution - coding silent Skin COSM4556296 CHD7 c.6874G>C p.G2292R Substitution - Missense Skin COSM4591270 KMT2C c.2512G>A p.G838S Substitution - Missense Upper_aerodigestive_tract COSM4458645 TRIM33 c.1094C>T p.A365V Substitution - Missense Skin COSM4770177 PBRM1 c.4576+5_4576+6insGAG p.? Unknown Soft_tissue COSM4669567 CBX4 c.1561G>A p.E521K Substitution - Missense Large_intestine COSM4677496 DIDO1 c.6317A>G p.Q2106R Substitution - Missense Large_intestine COSM4614229 BAG6 c.344_345insC p.G116fs*11 Insertion - Frameshift Large_intestine COSM4637511 TIF1 c.1349G>T p.G450V Substitution - Missense Large_intestine COSM4631594 SETD3 c.406A>C p.N136H Substitution - Missense Large_intestine COSM4641805 HDAC1 c.813A>G p.L271L Substitution - coding silent Large_intestine COSM4632317 PHF21B c.1041C>T p.N347N Substitution - coding silent Large_intestine COSM4778144 TDRD7 c.580T>C p.S194P Substitution - Missense Prostate COSM4805985 SMARCC1 c.1816T>G p.Y606D Substitution - Missense Liver COSM4802394 CHD3 c.2364C>T p.F788F Substitution - coding silent Liver COSM4789899 AP001011.3_ENST00000320876 c.5497G>A p.D1833N Substitution - Missense Liver COSM4896637 HDAC4 c.612-1G>A p.? Unknown Skin COSM4880425 KDM2B c.1569G>A p.K523K Substitution - coding silent Prostate COSM4910051 NCOA3 c.2795C>G p.P932R Substitution - Missense Liver COSM4843204 KMT2D c.6163G>A p.D2055N Substitution - Missense Cervix COSM4837208 PRDM16 c.687G>A p.T229T Substitution - coding silent Cervix COSM4824318 ARID1A c.2686G>C p.E896Q Substitution - Missense Cervix COSM4951733 BAHCC1 c.1539C>T p.G513G Substitution - coding silent Liver COSM4991927 SETD2 c.4237C>T p.P1413S Substitution - Missense Skin COSM4999276 PHRF1 c.3445G>T p.E1149* Substitution - Nonsense Pancreas COSM4974558 PHF7 c.161A>G p.N54S Substitution - Missense Oesophagus COSM4984989 HNF1A c.1460G>A p.S487N Substitution - Missense Liver COSM4980264 SMARCA4 c.609G>A p.A203A Substitution - coding silent Oesophagus COSM5368243 CDYL c.67G>A p.G23S Substitution - Missense Lung COSM5399740 BAP1 c.2014G>A p.D672N Substitution - Missense Skin COSM5392041 ACTR5 c.1476C>T p.F492F Substitution - coding silent Skin COSM5408856 PHF20L1 c.649C>T p.H217Y Substitution - Missense Skin COSM5508250 ARID1A c.702G>A p.P234P Substitution - coding silent Biliary_tract COSM5497847 PRDM1 c.1498G>A p.A500T Substitution - Missense Biliary_tract COSM5438389 TDG c.116A>T p.Q39L Substitution - Missense Oesophagus COSM5449059 CBX2 c.883C>T p.Q295* Substitution - Nonsense Large_intestine COSM5724482 HCFC1 c.5666G>A p.R1889H Substitution - Missense Skin COSM5739643 KMT2D c.7090C>T p.Q2364* Substitution - Nonsense Small_intestine COSM5721817 KMT2A c.4522G>A p.E1508K Substitution - Missense Skin COSM5725636 PHC2 c.1741G>A p.G581R Substitution - Missense Skin COSM5589420 ZMYM3 c.110C>T p.S37F Substitution - Missense Skin COSM5671505 TDRKH c.814G>T p.E272* Substitution - Nonsense Soft_tissue COSM5674461 TET2 c.3348A>G p.I1116M Substitution - Missense Soft_tissue COSM5749548 MGA c.9046C>A p.L3016I Substitution - Missense Genital_tract COSM5546862 L3MBTL3 c.2131_2136+25del31 p.? Unknown Prostate COSM5569242 AIRE c.452C>A p.T151N Substitution - Missense Prostate COSM5559444 HDAC2 c.1112T>C p.L371S Substitution - Missense Prostate COSM5786446 TRDMT1 c.852G>T p.Q284H Substitution - Missense Breast COSM5883920 PRDM5 c.1812C>A p.C604* Substitution - Nonsense Large_intestine COSM5944883 DNMT3A c.2640G>C p.M880I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5945233 KDM5A c.3044G>A p.S1015N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5945680 ASXL1 c.2999A>G p.D1000G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5909846 DNMT3L c.1111C>T p.P371S Substitution - Missense Skin COSM5891995 TRRAP c.3176-7C>T p.? Unknown Skin COSM5945994 ARID1A c.5989A>G p.N1997D Substitution - Missense Urinary_tract COSM5990631 ARID1A c.386G>A p.S129N Substitution - Missense Liver COSM6013953 KAT6B c.2116-5G>T p.? Unknown Skin COSM6005260 ATRX c.996T>C p.D332D Substitution - coding silent Prostate COSM5972366 BPTF c.8056T>G p.S2686A Substitution - Missense Upper_aerodigestive_tract COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM5369879 KMT2D c.? p.A4592G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52856 PBRM1 c.484delG p.D162fs*12 Deletion - Frameshift Kidney COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM122851 EP300 c.4195G>A p.D1399N Substitution - Missense Cervix COSM2034961 GLYATL1 c.375C>T p.I125I Substitution - coding silent Skin COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM1238789 EP300 c.5587C>T p.P1863S Substitution - Missense Oesophagus COSM4590343 SETBP1 c.3806A>G p.D1269G Substitution - Missense Upper_aerodigestive_tract COSM1087550 KMT2C c.10236G>A p.R3412R Substitution - coding silent Endometrium COSM2007377 KMT2D c.1940delC p.P647fs*38 Deletion - Frameshift Large_intestine COSM3650674 PRDM14 c.666G>A p.A222A Substitution - coding silent Breast COSM52859 PBRM1 c.232_236delCGAAG p.R78fs*7 Deletion - Frameshift Kidney COSM941741 BAZ2A_ENST00000379441 c.3710T>G p.L1237R Substitution - Missense Endometrium COSM5500341 PHF3 c.2983-8C>T p.? Unknown Biliary_tract COSM5888083 HELLS c.1770C>T p.I590I Substitution - coding silent Upper_aerodigestive_tract COSM5794295 HDAC6 c.1599G>A p.E533E Substitution - coding silent Breast COSM1669319 BAZ2B c.419T>G p.F140C Substitution - Missense Large_intestine COSM4410659 MYST2 c.326A>G p.D109G Substitution - Missense Kidney COSM4551565 BAZ2B c.5320G>A p.E1774K Substitution - Missense Skin COSM4603373 EP400 c.8156_8157insGCA p.Q2748_T2749insQ Insertion - In frame Upper_aerodigestive_tract COSM4570719 DOT1L c.3100T>G p.F1034V Substitution - Missense Skin COSM253290 SRCAP c.2833C>T p.R945* Substitution - Nonsense Ovary COSM4384158 MLL5 c.3443C>T p.P1148L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3624504 TCF19 c.60C>T p.T20T Substitution - coding silent Skin COSM245709 KMT2C c.13645C>T p.R4549C Substitution - Missense Large_intestine COSM133131 DNMT3A c.2254T>C p.F752L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM3144788 L3MBTL4 c.541A>G p.N181D Substitution - Missense Upper_aerodigestive_tract COSM3733523 NCOR1 c.14G>T p.G5V Substitution - Missense Upper_aerodigestive_tract COSM5621502 PHF15 c.1609T>C p.S537P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Biliary_tract COSM985491 CHD3 c.3723C>T p.N1241N Substitution - coding silent Endometrium COSM458127 BRWD3 c.923C>G p.P308R Substitution - Missense Breast COSM1700240 EYA1 c.1408G>A p.E470K Substitution - Missense Skin COSM42045 TET2 c.4258_4261delTTAT p.L1420fs*27 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM110786 TET2 c.4884T>A p.Y1628* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5774365 NCOA3 c.532+3A>C p.? Unknown Breast COSM290903 CDYL c.1167_1168GG>TT p.L389>? Complex Large_intestine COSM206745 ASH1L c.6826C>T p.R2276* Substitution - Nonsense Liver COSM4408938 SMARCA4 c.2738C>T p.P913L Substitution - Missense Large_intestine COSM3523597 BAHCC1 c.6465C>T p.A2155A Substitution - coding silent Skin COSM1307484 ZMYND8 c.80C>T p.S27F Substitution - Missense Urinary_tract COSM2738961 NCOR1 c.5764A>C p.R1922R Substitution - coding silent Upper_aerodigestive_tract COSM4062129 PRMT7 c.801T>C p.F267F Substitution - coding silent Stomach COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM417508 EZH1 c.1003A>G p.T335A Substitution - Missense Urinary_tract COSM4795580 ASH2L c.1585G>A p.A529T Substitution - Missense Liver COSM1169361 ADNP c.2405C>T p.S802F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4188700 CCDC101 c.555T>G p.H185Q Substitution - Missense Kidney COSM41294 IDH1 c.? p.R132C Substitution - Missense Soft_tissue COSM5796161 WDR5 c.905-8G>A p.? Unknown Breast COSM5751635 EZH2 c.878_879insA p.D293fs*7 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM998 SMARCB1 c.1121G>A p.R374Q Substitution - Missense Large_intestine COSM3912895 L3MBTL2 c.1362C>T p.L454L Substitution - coding silent Skin COSM1002783 TRIM28 c.1926G>A p.Q642Q Substitution - coding silent Endometrium COSM3368638 PRDM4 c.1852C>T p.H618Y Substitution - Missense Thyroid COSM4397536 ASXL3 c.1673C>T p.S558L Substitution - Missense Skin COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Stomach COSM1427011 PHF17 c.380_381delGC p.G127fs*9 Deletion - Frameshift Large_intestine COSM4387439 BAP1 c.1147C>T p.R383C Substitution - Missense Eye COSM394149 GTF3C1 c.3556G>T p.E1186* Substitution - Nonsense Lung COSM248484 ZMYM3 c.3407A>C p.Y1136S Substitution - Missense Prostate COSM4591233 NCOR1 c.534G>C p.K178N Substitution - Missense Upper_aerodigestive_tract COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5400129 MINA c.1017C>T p.P339P Substitution - coding silent Skin COSM1270787 ZCWPW1 c.1080G>A p.V360V Substitution - coding silent Oesophagus COSM87001 DNMT3A c.2644C>A p.R882S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM166407 CREBBP c.4262G>A p.C1421Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1756455 MECP2 c.1243G>C p.E415Q Substitution - Missense Urinary_tract COSM934523 PRDM4 c.1442A>G p.E481G Substitution - Missense Endometrium COSM233368 SIRT2 c.697G>A p.V233I Substitution - Missense Skin COSM4048195 TDRD3 c.1604C>G p.S535C Substitution - Missense Stomach COSM4847915 MGA c.1715C>T p.S572L Substitution - Missense Cervix COSM5191510 PHF1 c.89G>A p.R30Q Substitution - Missense Oesophagus COSM1303440 CBX4 c.759C>G p.V253V Substitution - coding silent Urinary_tract COSM5579993 WHSC1L1 c.99C>T p.A33A Substitution - coding silent Skin COSM1080956 PHF3 c.2990T>A p.F997Y Substitution - Missense Endometrium COSM4492096 HDAC6 c.390C>T p.S130S Substitution - coding silent Skin COSM315438 SMARCC2 c.30delC p.N11fs*2 Deletion - Frameshift Lung COSM1041425 TBL1XR1 c.113A>G p.N38S Substitution - Missense Endometrium COSM4119165 PBRM1 c.1727G>A p.R576H Substitution - Missense Stomach COSM5723832 PRDM1 c.1618G>A p.E540K Substitution - Missense Skin COSM1733075 SND1 c.782T>C p.V261A Substitution - Missense Pancreas COSM1183551 ARID1B c.797G>C p.G266A Substitution - Missense Large_intestine COSM211673 TET2 c.1658_1659insG p.P554fs*13 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1698227 ARID1B c.3887C>T p.P1296L Substitution - Missense Skin COSM1753989 BRD8 c.671C>T p.S224F Substitution - Missense Upper_aerodigestive_tract COSM1388274 SMCHD1 c.101C>T p.P34L Substitution - Missense Large_intestine COSM23010 MEN1 c.221delG p.G74fs*45 Deletion - Frameshift Parathyroid COSM3825996 CLOCK c.49G>T p.D17Y Substitution - Missense Breast COSM5941155 ZMYM3 c.1737+7C>T p.? Unknown Skin COSM2909111 HDAC4 c.2900G>A p.R967Q Substitution - Missense Large_intestine COSM3720311 MECOM c.981A>G p.L327L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1449816 HDAC9 c.1041G>A p.S347S Substitution - coding silent Large_intestine COSM5990777 PRDM10 c.383_384GC>CA p.G128A Substitution - Missense Liver COSM2221849 TRIM66 c.1416C>T p.P472P Substitution - coding silent Thyroid COSM4753607 RTF1 c.1258C>T p.R420W Substitution - Missense Stomach COSM5007076 DNMT1 c.2257G>C p.D753H Substitution - Missense Large_intestine COSM1633260 PBRM1 c.1302A>G p.R434R Substitution - coding silent Liver COSM3957719 CTCF c.1598G>T p.R533L Substitution - Missense Lung COSM3501430 TP53BP1 c.1900C>T p.R634* Substitution - Nonsense Skin COSM1368979 CHD8 c.6659G>T p.S2220I Substitution - Missense Large_intestine COSM5435014 PRMT2 c.713G>T p.G238V Substitution - Missense Oesophagus COSM252979 CLOCK c.368delT p.L123fs*1 Deletion - Frameshift Large_intestine COSM324990 CHD2 c.62G>A p.S21N Substitution - Missense Lung COSM480435 PBRM1 c.727A>T p.K243* Substitution - Nonsense Kidney COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5710939 ELP3 c.1239C>G p.H413Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5722703 CBX8 c.1004C>T p.A335V Substitution - Missense Skin COSM1027973 ADNP c.1062C>T p.N354N Substitution - coding silent Endometrium COSM52948 DNMT3A c.? p.R803S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1708693 CREBBP c.3394C>T p.P1132S Substitution - Missense Skin COSM95563 ZMYM2 c.2896A>G p.T966A Substitution - Missense Lung COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5754983 RAI1 c.4678C>T p.R1560* Substitution - Nonsense Large_intestine COSM1372825 MGA c.5690C>T p.P1897L Substitution - Missense Large_intestine COSM145131 BAZ2B c.5227G>A p.A1743T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM417521 KAT2A c.756G>C p.Q252H Substitution - Missense Urinary_tract COSM716477 MBD5 c.956C>G p.T319S Substitution - Missense Lung COSM53161 TET2 c.? p.R1452* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4994275 ASXL1 c.3898C>T p.Q1300* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4653364 HAT1 c.709C>T p.R237C Substitution - Missense Large_intestine COSM5625234 DNMT3A c.2710C>T p.P904S Substitution - Missense Oesophagus COSM5897958 NCOR1 c.3943C>T p.P1315S Substitution - Missense Skin COSM5833227 NCOR1 c.4304_4305delAT p.Y1435fs*1 Deletion - Frameshift Breast COSM5440623 L3MBTL4 c.1105G>T p.D369Y Substitution - Missense Oesophagus COSM53106 TET2 c.? p.T1726fs*18 Frameshift Haematopoietic_and_lymphoid_tissue COSM2155747 SETD6 c.979G>A p.E327K Substitution - Missense Central_nervous_system COSM221138 KMT2D c.4555delC p.L1519fs*13 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM436126 SMYD4 c.1473G>A p.A491A Substitution - coding silent Breast COSM117346 HDAC4 c.578A>C p.H193P Substitution - Missense Ovary COSM1756932 NCOR1 c.2080C>T p.R694* Substitution - Nonsense Urinary_tract COSM1965119 KAT6B c.2753A>G p.H918R Substitution - Missense Stomach COSM5459296 TIF1 c.1740A>G p.P580P Substitution - coding silent Large_intestine COSM3394690 STK31 c.231G>T p.G77G Substitution - coding silent Pancreas COSM5589390 ZBTB4 c.1932_1946del15 p.D644_E648delDEEEE Deletion - In frame Skin COSM1729096 CREBBP c.331A>T p.N111Y Substitution - Missense Liver COSM52838 PBRM1 c.3553C>T p.R1185* Substitution - Nonsense Large_intestine COSM4611662 PHF14 c.540delA p.K182fs*19 Deletion - Frameshift Large_intestine COSM1184400 BAHCC1 c.1583G>A p.G528D Substitution - Missense Large_intestine COSM3735047 TET2 c.4825_4844del20 p.L1609fs*45 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1714017 PRDM15 c.3146_3147CC>TT p.P1049L Substitution - Missense Skin COSM69161 SP100 c.472_474delGAA p.E158del Deletion - In frame Ovary COSM903691 SMYD2 c.516C>T p.L172L Substitution - coding silent Endometrium COSM972735 PRMT7 c.439G>A p.D147N Substitution - Missense Endometrium COSM88784 EP300 c.4879C>T p.R1627W Substitution - Missense Urinary_tract COSM5024522 ATRX c.798C>A p.Y266* Substitution - Nonsense Bone COSM1493694 CREBBP c.2686G>A p.G896R Substitution - Missense Kidney COSM3734202 HDAC4 c.842A>T p.K281I Substitution - Missense Pancreas COSM23308 HDAC7 c.2550C>G p.D850E Substitution - Missense Lung COSM5708833 PBRM1 c.3194C>T p.A1065V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4532299 TAF3 c.1872G>A p.E624E Substitution - coding silent Skin COSM4989769 RERE c.2381C>T p.P794L Substitution - Missense Soft_tissue COSM4071698 SMCHD1 c.90A>G p.V30V Substitution - coding silent Stomach COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1061341 KDM3B c.2302G>A p.V768I Substitution - Missense Endometrium COSM1090 SMARCB1 c.1119-41G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4614779 GTF3C1 c.185delA p.E62fs*41 Deletion - Frameshift Large_intestine COSM4496890 BAZ2B c.484C>T p.R162* Substitution - Nonsense Skin COSM2149969 PRDM15 c.3657C>T p.H1219H Substitution - coding silent Central_nervous_system COSM3973902 ATRX c.5635T>G p.L1879V Substitution - Missense Central_nervous_system COSM5425356 CDYL2 c.172T>C p.L58L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3726206 SETD2 c.1006A>T p.R336* Substitution - Nonsense Lung COSM4076479 LMNB2 c.1403T>C p.L468P Substitution - Missense Stomach COSM146006 TET2 c.4688C>T p.S1563F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM110779 TET2 c.3489_3498CATGGAAGAA>TAAGGT p.M1164fs*61 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM4484953 NCOA3 c.2876C>T p.P959L Substitution - Missense Skin COSM5989596 TET2 c.4284_4285insT p.G1430fs*48 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM328978 KMT2C c.8390delA p.K2797fs*26 Deletion - Frameshift Breast COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3464355 CHD4 c.4190A>T p.D1397V Substitution - Missense Skin COSM1221902 PRDM8 c.1153G>A p.A385T Substitution - Missense Large_intestine COSM4991530 EP300 c.3619G>T p.E1207* Substitution - Nonsense Skin COSM1678013 ARID4A c.163C>T p.Q55* Substitution - Nonsense Lung COSM5758650 CXXC1 c.898G>C p.D300H Substitution - Missense Bone COSM5654762 PHIP c.153G>C p.W51C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96446 CREBBP c.? p.L470* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3578879 SP140 c.255T>A p.F85L Substitution - Missense Skin COSM5931556 TET2 c.2305C>T p.Q769* Substitution - Nonsense Skin COSM132995 ARID1A c.6228C>A p.Y2076* Substitution - Nonsense Breast COSM5392262 ZMYND8 c.556A>G p.K186E Substitution - Missense Skin COSM4648812 PRDM8 c.1622C>A p.A541D Substitution - Missense Large_intestine COSM1618228 INTS12 c.1360A>G p.K454E Substitution - Missense Liver COSM3838805 SP140 c.301G>T p.E101* Substitution - Nonsense Breast COSM4984100 EP300 c.512C>T p.A171V Substitution - Missense Large_intestine COSM328761 ARID2 c.2902A>T p.I968L Substitution - Missense Liver COSM985377 KDM6B c.752_753insACCACC p.P264_L265insPP Insertion - In frame Upper_aerodigestive_tract COSM4677368 DHX30 c.406G>A p.A136T Substitution - Missense Large_intestine COSM2747680 DOT1L c.3623C>T p.S1208F Substitution - Missense Skin COSM4490532 PRDM16 c.3653C>T p.S1218F Substitution - Missense Skin COSM2802646 KDM6B c.4548C>T p.H1516H Substitution - coding silent Large_intestine COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM1087437 SMARCD3 c.486C>T p.S162S Substitution - coding silent Endometrium COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM5833371 BPTF c.8052_8053insGCC p.P2684_P2685insA Insertion - In frame Breast COSM3816141 TP53BP1 c.1087G>T p.V363F Substitution - Missense Breast COSM5033065 ACTR5 c.34C>G p.R12G Substitution - Missense Oesophagus COSM4106230 ZBTB33 c.1753C>G p.R585G Substitution - Missense Stomach COSM708186 AP001011.3_ENST00000320876 c.1937G>A p.G646E Substitution - Missense Lung COSM4119253 SFMBT1 c.1440C>T p.H480H Substitution - coding silent Stomach COSM1045668 SMARCC1 c.1472G>A p.R491Q Substitution - Missense Stomach COSM3461577 KMT2D c.5764G>A p.A1922T Substitution - Missense Skin COSM5955129 DAXX c.274C>T p.Q92* Substitution - Nonsense Upper_aerodigestive_tract COSM305966 EED c.776C>T p.S259F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1433317 BRD8 c.2916C>T p.C972C Substitution - coding silent Large_intestine COSM231560 DNMT3A c.2206C>T p.R736C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5019889 SETBP1 c.3388C>A p.P1130T Substitution - Missense Soft_tissue COSM363532 BRWD3 c.5092G>A p.G1698R Substitution - Missense Lung COSM923588 KMT2A c.6737T>G p.V2246G Substitution - Missense Endometrium COSM3918709 KDM3B c.3724T>G p.S1242A Substitution - Missense Skin COSM5928155 PRDM2 c.5093G>A p.R1698K Substitution - Missense Skin COSM94370 KAT2A c.2129G>C p.G710A Substitution - Missense Lung COSM1672753 L3MBTL3 c.1243T>C p.W415R Substitution - Missense Large_intestine COSM4590784 ATF7IP c.2647C>A p.Q883K Substitution - Missense Upper_aerodigestive_tract COSM4383961 TET2 c.4983T>A p.Y1661* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3426326 DNMT3A c.1575G>A p.A525A Substitution - coding silent Large_intestine COSM2889525 DNMT3B c.906G>A p.M302I Substitution - Missense Large_intestine COSM4000327 CBX4 c.871T>C p.S291P Substitution - Missense Upper_aerodigestive_tract COSM4076481 LMNB2 c.846G>A p.A282A Substitution - coding silent Stomach COSM1602143 ARID1A c.2732+1G>C p.? Unknown Liver COSM4693791 JARID2 c.314C>T p.S105L Substitution - Missense Large_intestine COSM1209342 HCFC1 c.2428G>A p.A810T Substitution - Missense Large_intestine COSM2813595 SMARCA4 c.2085C>T p.S695S Substitution - coding silent Bone COSM3712557 BPTF c.5388G>T p.M1796I Substitution - Missense Upper_aerodigestive_tract COSM3142320 CHD1 c.377C>T p.S126F Substitution - Missense Large_intestine COSM5947371 ACTB c.3G>A p.M1I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM753645 TAF1L c.4564G>T p.D1522Y Substitution - Missense Lung COSM232660 L3MBTL4 c.1258C>T p.R420C Substitution - Missense Skin COSM5809717 UTY c.588A>T p.P196P Substitution - coding silent Liver COSM5368562 TRRAP c.9319G>A p.E3107K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1241435 KMT2D c.190C>T p.R64W Substitution - Missense Oesophagus COSM1615837 DIDO1 c.128C>T p.A43V Substitution - Missense Liver COSM96481 CREBBP c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3458530 ATF7IP c.1227G>A p.T409T Substitution - coding silent Skin COSM5897751 KAT6B c.4696C>T p.Q1566* Substitution - Nonsense Skin COSM1614214 IDH1 c.766G>T p.A256S Substitution - Missense Liver COSM956529 ARID4A c.1483G>T p.D495Y Substitution - Missense Endometrium COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5568383 CDYL2 c.1394G>A p.S465N Substitution - Missense Prostate COSM4993581 ATRX c.1561C>T p.P521S Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM88768 CREBBP c.1718delC p.L574fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM989 SMARCB1 c.1130G>A p.R377H Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM231567 DNMT3A c.2314T>A p.F772I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4719545 PWWP2B c.190G>A p.D64N Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1309737 PHF17 c.956A>G p.N319S Substitution - Missense Urinary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1639819 ARID1A c.4550delC p.Q1519fs*8 Deletion - Frameshift Endometrium COSM5187319 BAHCC1 c.6203-7C>G p.? Unknown Large_intestine COSM1087659 KMT2C c.947C>G p.T316S Substitution - Missense Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3662679 PHF3 c.2601A>G p.R867R Substitution - coding silent Liver COSM1628614 ARID2 c.5260C>T p.R1754* Substitution - Nonsense Upper_aerodigestive_tract COSM166805 SMC1A c.2456T>A p.I819N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM1226854 SMEK2 c.1163C>A p.S388Y Substitution - Missense Large_intestine COSM120174 TET2 c.3578G>T p.C1193F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM235641 TET2 c.? p.Q461* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1178391 KDM5C c.3534G>T p.S1178S Substitution - coding silent Prostate COSM4557872 HDGFL1 c.745G>A p.D249N Substitution - Missense Skin COSM3770093 CREBBP c.5293C>T p.Q1765* Substitution - Nonsense Soft_tissue COSM4663232 ARID1A c.5051G>A p.S1684N Substitution - Missense Large_intestine COSM1238061 IKZF1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1493875 EZH1 c.1243G>T p.A415S Substitution - Missense Kidney COSM99740 DNMT3A c.2645G>C p.R882P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1107180 EHMT1 c.2416G>A p.A806T Substitution - Missense Endometrium COSM144519 TET2 c.4303C>T p.Q1435* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1225384 SETD6 c.91C>T p.R31W Substitution - Missense Large_intestine COSM5631131 KMT2A c.2328C>T p.V776V Substitution - coding silent Oesophagus COSM5944926 DNMT3A c.2131A>T p.N711Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1626218 ATRX c.4036_4039delACTG p.T1346fs*1 Deletion - Frameshift Central_nervous_system COSM3985686 JMJD1C c.2053T>A p.W685R Substitution - Missense Kidney COSM4992380 PRDM1 c.684G>A p.K228K Substitution - coding silent Skin COSM1746980 ARID2 c.4531G>T p.E1511* Substitution - Nonsense Urinary_tract COSM3387927 HDAC5 c.1702G>A p.A568T Substitution - Missense Pancreas COSM939279 KDM5A c.2022G>A p.R674R Substitution - coding silent Endometrium COSM487855 MSL3 c.1308C>T p.D436D Substitution - coding silent Kidney COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM96463 CREBBP c.3246delA p.I1084fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM122020 TDG c.387C>A p.T129T Substitution - coding silent Stomach COSM140187 KDM4B c.1579C>T p.P527S Substitution - Missense Skin COSM139189 CHD6 c.4123C>T p.R1375W Substitution - Missense Skin COSM218772 DHX30 c.2003C>T p.P668L Substitution - Missense Pancreas COSM217035 ARID1A c.1169_1170insT p.M390fs*10 Insertion - Frameshift Liver COSM234298 SFMBT2 c.532C>T p.R178* Substitution - Nonsense Skin COSM231852 BRDT c.869C>T p.S290L Substitution - Missense Skin COSM225883 KMT2C c.2968A>G p.S990G Substitution - Missense Soft_tissue COSM227525 KMT2C c.2294A>G p.E765G Substitution - Missense Thyroid COSM237051 BRDT c.1908A>G p.R636R Substitution - coding silent Prostate COSM255251 KDM6A c.1077_1078insG p.T360fs*4 Insertion - Frameshift Central_nervous_system COSM291298 SMARCA2 c.1057C>T p.R353C Substitution - Missense Large_intestine COSM309889 CCDC101 c.196G>A p.A66T Substitution - Missense Large_intestine COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Large_intestine COSM328005 DNMT1 c.996-9_996-8delTT p.? Unknown Pancreas COSM414073 POGZ c.2724C>T p.L908L Substitution - coding silent Urinary_tract COSM468385 KDM5A c.878T>C p.L293P Substitution - Missense Kidney COSM472970 MYST2 c.1097A>G p.Y366C Substitution - Missense Kidney COSM479112 HDAC10 c.1075C>T p.Q359* Substitution - Nonsense Kidney COSM979419 KAT2A c.1442C>T p.S481L Substitution - Missense Endometrium COSM486419 ASH2L c.778G>T p.D260Y Substitution - Missense Kidney COSM1012904 ASXL1 c.2639C>G p.T880S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1018650 ATAD2B_ENST00000238789 c.2936G>A p.R979H Substitution - Missense Endometrium COSM919611 SIRT1 c.845G>A p.R282H Substitution - Missense Large_intestine COSM743362 PHF3 c.2249G>T p.S750I Substitution - Missense Lung COSM907713 ARID1A c.3562C>T p.Q1188* Substitution - Nonsense Stomach COSM926918 ALKBH3 c.637C>T p.R213C Substitution - Missense Endometrium COSM1129537 BAZ2B c.1907A>G p.D636G Substitution - Missense Prostate COSM1183569 ARID2 c.4510C>T p.R1504W Substitution - Missense Large_intestine COSM1181004 NIPBL c.8320delA p.I2776fs*3 Deletion - Frameshift Large_intestine COSM1235219 ARID1A c.3440C>T p.P1147L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1211802 KDM6B c.355T>C p.S119P Substitution - Missense Large_intestine COSM1307866 DNMT3L c.1095G>A p.V365V Substitution - coding silent Urinary_tract COSM1302021 CHD9 c.7603G>A p.E2535K Substitution - Missense Urinary_tract COSM1377029 GTF3C1 c.2253_2254delTC p.Q752fs*6 Deletion - Frameshift Large_intestine COSM1406108 SP140_ENST00000392045 c.934G>T p.E312* Substitution - Nonsense Large_intestine COSM1427015 PHF17 c.1175delC p.R394fs*20 Deletion - Frameshift Large_intestine COSM1342112 ZMYM1 c.1510delA p.T506fs*15 Deletion - Frameshift Large_intestine COSM1569705 SMARCA1 c.608A>G p.N203S Substitution - Missense Liver COSM1565845 DNMT3B c.1834G>A p.A612T Substitution - Missense Large_intestine COSM1615880 ZGPAT c.980C>T p.A327V Substitution - Missense Liver COSM1616122 DNMT3L c.593A>G p.D198G Substitution - Missense Liver COSM1629279 BAZ1A c.2426G>A p.R809H Substitution - Missense Liver COSM1673334 TRRAP c.662C>T p.S221F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1756702 UTY c.2479C>T p.Q827* Substitution - Nonsense Urinary_tract COSM1965092 KAT6B c.1353A>C p.S451S Substitution - coding silent Upper_aerodigestive_tract COSM1978335 RAG2 c.619C>T p.H207Y Substitution - Missense Skin COSM1992290 APOBEC1 c.184G>A p.V62M Substitution - Missense Prostate COSM2235592 ARID1A c.6789A>G p.V2263V Substitution - coding silent Large_intestine COSM2797922 BPTF c.8592G>T p.T2864T Substitution - coding silent Large_intestine COSM3355896 ASH1L c.4999T>C p.S1667P Substitution - Missense Breast COSM3366677 STK31 c.2531C>G p.T844R Substitution - Missense Kidney COSM3501429 TP53BP1 c.1999A>T p.I667F Substitution - Missense Skin COSM3423189 SUV420H2 c.1146C>A p.A382A Substitution - coding silent Large_intestine COSM3636499 KMT2C c.6606A>T p.P2202P Substitution - coding silent Skin COSM3642794 TRRAP c.6418C>T p.Q2140* Substitution - Nonsense Skin COSM3594802 SMARCC1 c.539T>C p.L180S Substitution - Missense Skin COSM3545289 DNMT3B c.316C>T p.R106* Substitution - Nonsense Liver COSM3562288 KDM5C c.1360C>T p.P454S Substitution - Missense Skin COSM3546354 CHD6 c.7350C>T p.L2450L Substitution - coding silent Skin COSM3521198 BPTF c.5118A>G p.P1706P Substitution - coding silent Skin COSM3525857 SETBP1 c.1889C>G p.A630G Substitution - Missense Skin COSM3692295 DNMT1 c.112G>T p.E38* Substitution - Nonsense Large_intestine COSM3771849 DNMT3A c.510G>T p.L170L Substitution - coding silent Pancreas COSM3795030 PRMT7 c.865G>C p.E289Q Substitution - Missense Urinary_tract COSM3788563 PRDM2 c.3158C>T p.S1053F Substitution - Missense Urinary_tract COSM3845466 BRWD3 c.2776C>T p.Q926* Substitution - Nonsense Breast COSM3883742 TRRAP c.6350G>A p.R2117Q Substitution - Missense Liver COSM4010337 RERE c.373T>C p.C125R Substitution - Missense Stomach COSM4045983 ING1 c.507C>T p.D169D Substitution - coding silent Stomach COSM4054457 INOC1 c.4349G>A p.R1450Q Substitution - Missense Stomach COSM4042401 KMT2D c.2876C>T p.P959L Substitution - Missense Stomach COSM3989667 SMARCA4 c.2971A>G p.K991E Substitution - Missense Kidney COSM3991926 SETD4 c.1119G>C p.K373N Substitution - Missense Kidney COSM4106537 SMARCA1 c.2038A>T p.K680* Substitution - Nonsense Stomach COSM4147994 CHD8 c.172G>A p.V58M Substitution - Missense Thyroid COSM4162014 KMT2C c.2534G>A p.G845E Substitution - Missense Upper_aerodigestive_tract COSM4381931 KMT2C c.943G>T p.G315C Substitution - Missense Upper_aerodigestive_tract COSM4397318 ZMYM6 c.1137G>A p.P379P Substitution - coding silent Large_intestine COSM4399459 BPTF c.2521C>T p.R841* Substitution - Nonsense Skin COSM4495754 SRCAP c.4603C>T p.P1535S Substitution - Missense Skin COSM4410318 KAT2A c.1697G>A p.R566H Substitution - Missense Oesophagus COSM4735448 TP53BP1 c.3083G>T p.S1028I Substitution - Missense Large_intestine COSM4689680 HDAC4 c.2137A>G p.T713A Substitution - Missense Large_intestine COSM4682131 EYA2 c.1365G>A p.L455L Substitution - coding silent Large_intestine COSM4663283 ARID4A c.535_536insTT p.S180fs*1 Insertion - Frameshift Large_intestine COSM4606367 PHF6 c.385C>T p.R129* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4770776 TIF1 c.2953_2956delTCAG p.S985fs*>31 Deletion - Frameshift Pleura COSM4803887 BRD7 c.106G>T p.E36* Substitution - Nonsense Liver COSM4791566 SMARCA2 c.2123T>C p.I708T Substitution - Missense Liver COSM4789763 TDRD10 c.517G>A p.V173M Substitution - Missense Liver COSM4805149 RBBP5 c.925A>G p.I309V Substitution - Missense Liver COSM4938569 BAZ2B c.3363T>G p.L1121L Substitution - coding silent Liver COSM4919311 CHD8 c.2329C>T p.R777W Substitution - Missense Liver COSM4949470 ARID2 c.3276T>A p.A1092A Substitution - coding silent Liver COSM5024929 EZH2 c.1139C>G p.S380* Substitution - Nonsense Breast COSM5014768 KMT2C c.13310C>T p.T4437M Substitution - Missense Kidney COSM5099074 MPHOSPH8 c.670A>G p.T224A Substitution - Missense Large_intestine COSM5413601 KMT2D c.31A>G p.K11E Substitution - Missense Prostate COSM5413155 BRWD3 c.529C>G p.L177V Substitution - Missense Skin COSM5494596 MBD6 c.2829G>C p.P943P Substitution - coding silent Biliary_tract COSM5495747 ZMYM6 c.2911A>C p.N971H Substitution - Missense Biliary_tract COSM5506622 SETDB1 c.3291T>A p.D1097E Substitution - Missense Biliary_tract COSM5485688 CHD8 c.295C>T p.P99S Substitution - Missense Large_intestine COSM5612019 KDM3A c.3259C>A p.L1087M Substitution - Missense Adrenal_gland COSM5715653 INOC1 c.3583G>A p.D1195N Substitution - Missense Skin COSM5724815 HDAC9 c.491C>T p.P164L Substitution - Missense Skin COSM5744481 CHD9 c.5819G>A p.R1940Q Substitution - Missense Small_intestine COSM5721980 BAZ2A_ENST00000379441 c.695C>T p.T232I Substitution - Missense Skin COSM5599022 ACTR5 c.312C>T p.V104V Substitution - coding silent Skin COSM5599757 KDM3A c.1219C>T p.P407S Substitution - Missense Skin COSM5616360 ZMYM3 c.667G>T p.G223* Substitution - Nonsense Lung COSM5606649 MYST3 c.1689C>T p.F563F Substitution - coding silent Skin COSM5572091 DNMT3L c.479G>C p.W160S Substitution - Missense Prostate COSM5818260 SMYD1 c.708C>A p.L236L Substitution - coding silent Liver COSM5984224 KMT2C c.1198G>C p.D400H Substitution - Missense Upper_aerodigestive_tract COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM5031029 KMT2D c.? p.?fs Frameshift Central_nervous_system COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52892 PBRM1 c.1709_1710insT p.I571fs*2 Insertion - Frameshift Kidney COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM971265 BRD7 c.831_832insAG p.D278fs*35 Insertion - Frameshift Endometrium COSM2188354 TP53BP1 c.115C>T p.H39Y Substitution - Missense Large_intestine COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM3203687 MECOM c.834T>G p.L278L Substitution - coding silent Upper_aerodigestive_tract COSM2754926 KDM4B c.1037G>A p.R346Q Substitution - Missense Stomach COSM710854 DOT1L c.1096G>T p.G366C Substitution - Missense Lung COSM4453977 GABRG1 c.380A>T p.N127I Substitution - Missense Skin COSM4689202 GTF3C4 c.1092_1093delAG p.E365fs*22 Deletion - Frameshift Large_intestine COSM1322674 SETD8 c.930C>T p.H310H Substitution - coding silent Ovary COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM5945701 ATRX c.? p.R418* Substitution - Nonsense Central_nervous_system COSM404733 INTS12 c.337G>C p.D113H Substitution - Missense Lung COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM1406743 ATAD2B_ENST00000238789 c.1404delT p.F468fs*9 Deletion - Frameshift Large_intestine COSM1399844 MBD5 c.1427C>T p.P476L Substitution - Missense Skin COSM4005987 NSD1 c.6782T>C p.M2261T Substitution - Missense Soft_tissue COSM452678 KMT2C c.12239_12240insT p.S4081fs*12 Insertion - Frameshift Breast COSM5976977 TDRD7 c.1490A>G p.E497G Substitution - Missense Upper_aerodigestive_tract COSM4402944 RERE c.253C>T p.R85C Substitution - Missense Skin COSM1666637 MSH6 c.3172+1G>T p.? Unknown Ovary COSM5602753 ADNP c.1094C>T p.S365F Substitution - Missense Skin COSM1377845 CREBBP c.3505C>T p.R1169C Substitution - Missense Large_intestine COSM4611384 HNF1A c.864_865insC p.G292fs*25 Insertion - Frameshift Large_intestine COSM4800185 CHD6 c.5495G>T p.C1832F Substitution - Missense Liver COSM1322642 EP400 c.4275C>T p.S1425S Substitution - coding silent Ovary COSM4050621 BAZ1A c.3446C>T p.A1149V Substitution - Missense Large_intestine COSM3461001 KDM5A c.974C>T p.P325L Substitution - Missense Skin COSM3878490 TIF1 c.1574C>T p.A525V Substitution - Missense Stomach COSM4944996 EYA1 c.884T>C p.L295S Substitution - Missense Liver COSM132992 ARID1A c.6259G>A p.G2087R Substitution - Missense Cervix COSM4905015 ZMYM4 c.3371C>T p.S1124L Substitution - Missense Skin COSM1263593 PWWP2B c.897A>G p.R299R Substitution - coding silent Oesophagus COSM5990833 HNF1A c.326+6delG p.? Unknown Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM6005439 HCFC1 c.824G>A p.R275H Substitution - Missense Prostate COSM3942735 PRDM14 c.1027C>T p.Q343* Substitution - Nonsense Oesophagus COSM87153 TET2 c.4097G>A p.R1366H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4023038 ASH1L c.7568G>A p.R2523H Substitution - Missense Stomach COSM133052 EZH2 c.1682G>A p.R561H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4767424 ARID2 c.1715+1G>A p.? Unknown Biliary_tract COSM1301107 RTF1 c.826C>T p.R276W Substitution - Missense Urinary_tract COSM4911568 HDAC9 c.2390T>A p.F797Y Substitution - Missense Liver COSM3622168 JARID2 c.628C>A p.P210T Substitution - Missense Skin COSM273790 PRMT1 c.975_977delCAC p.T326delT Deletion - In frame Large_intestine COSM329084 BAP1 c.179G>A p.R60Q Substitution - Missense Large_intestine COSM285644 TDRD7 c.3122G>A p.R1041Q Substitution - Missense Large_intestine COSM41294 IDH1 c.? p.R132C Substitution - Missense Bone COSM41292 IDH1 c.? p.R132G Substitution - Missense Bone COSM5965419 BPTF c.7335C>G p.L2445L Substitution - coding silent Breast COSM4677500 DIDO1 c.5058G>A p.P1686P Substitution - coding silent Large_intestine COSM3080629 ACTL6B c.467C>G p.A156G Substitution - Missense Large_intestine COSM1936582 BAZ2A_ENST00000379441 c.2142G>C p.K714N Substitution - Missense Upper_aerodigestive_tract COSM5038076 PRDM9 c.2444A>G p.N815S Substitution - Missense Skin COSM1633198 SETD2 c.4849G>T p.E1617* Substitution - Nonsense Liver COSM3395653 BRD3 c.1416C>T p.A472A Substitution - coding silent Pancreas COSM920532 KAT6B c.3719A>G p.E1240G Substitution - Missense Endometrium COSM5048378 PRDM9 c.1661G>A p.C554Y Substitution - Missense Oesophagus COSM4971765 PHF2 c.534G>A p.V178V Substitution - coding silent Central_nervous_system COSM1664114 SETD2 c.1478C>G p.S493* Substitution - Nonsense Kidney COSM214585 TET2 c.3594+2T>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4653025 SMARCA4 c.3998G>A p.R1333Q Substitution - Missense Large_intestine COSM5707676 EP300 c.2061_2077del17 p.L688fs*105 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1630066 NCOR1 c.515C>T p.S172L Substitution - Missense Upper_aerodigestive_tract COSM1158654 NIPBL c.1581G>A p.E527E Substitution - coding silent Pancreas COSM3737792 KDM3B c.3972+9C>G p.? Unknown Soft_tissue COSM4140098 MBD1 c.1334G>C p.G445A Substitution - Missense Ovary COSM1034782 TCF20 c.366G>T p.Q122H Substitution - Missense Endometrium COSM4383805 TET2 c.1399_1402delACAC p.T467fs*18 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM431203 KMT2D c.10026G>A p.Q3342Q Substitution - coding silent Soft_tissue COSM443841 CHD6 c.11A>C p.K4T Substitution - Missense Breast COSM5833447 CBX2 c.977_978insC p.H329fs*84 Insertion - Frameshift Breast COSM4951676 KDM5C c.4250A>G p.H1417R Substitution - Missense Liver COSM5942682 SRCAP c.3052C>T p.P1018S Substitution - Missense Skin COSM1265386 SFMBT2 c.2050G>A p.G684R Substitution - Missense Stomach COSM254610 CHD6 c.6481C>A p.H2161N Substitution - Missense Urinary_tract COSM1606525 CHD4 c.4375T>C p.Y1459H Substitution - Missense Liver COSM5878833 DNMT3A c.1528delG p.V510fs*141 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4300068 EP300 c.1681C>T p.Q561* Substitution - Nonsense Upper_aerodigestive_tract COSM5898080 ASH1L c.5299G>A p.V1767M Substitution - Missense Skin COSM1394661 KDM4B c.2889T>C p.P963P Substitution - coding silent Liver COSM3296286 EPC2 c.1405C>G p.H469D Substitution - Missense Large_intestine COSM1679942 AKAP1 c.2473C>A p.L825I Substitution - Missense Large_intestine COSM1676890 ARID2 c.2817T>G p.Y939* Substitution - Nonsense Central_nervous_system COSM1394661 KDM4B c.2889T>C p.P963P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4908813 ARID4A c.3176G>C p.S1059T Substitution - Missense Central_nervous_system COSM4447734 BAHCC1 c.5067G>A p.E1689E Substitution - coding silent Skin COSM3124646 ZBTB38 c.825G>A p.S275S Substitution - coding silent Large_intestine COSM1124797 ZMYM3 c.3821G>A p.R1274Q Substitution - Missense Endometrium COSM4577241 PHC2 c.37A>G p.S13G Substitution - Missense Bone COSM5376478 MPHOSPH8 c.449C>T p.P150L Substitution - Missense Skin COSM1626159 BRWD3 c.814-4delT p.? Unknown Liver COSM954437 CHD8 c.3804T>A p.F1268L Substitution - Missense Endometrium COSM4833337 BTAF1 c.4819C>G p.L1607V Substitution - Missense Cervix COSM1002778 TRIM28 c.889A>G p.M297V Substitution - Missense Endometrium COSM1265320 SET c.636T>C p.I212I Substitution - coding silent Stomach COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4169860 TET2 c.2230C>T p.Q744* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM79145 BRWD3 c.4499C>G p.S1500* Substitution - Nonsense Ovary COSM5026858 KMT2C c.7171_7175delATTCT p.I2391fs*37 Deletion - Frameshift Breast COSM3739669 ARID2 c.1716-9A>G p.? Unknown Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1730860 TDRD6 c.4327A>T p.S1443C Substitution - Missense Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5363979 SMYD4 c.1515G>A p.A505A Substitution - coding silent Large_intestine COSM5722703 CBX8 c.1004C>T p.A335V Substitution - Missense Skin COSM4663702 ASH1L c.4024C>T p.R1342* Substitution - Nonsense Large_intestine COSM96391 ASXL1 c.2254_2255insG p.A752fs*22 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1609411 CHD9 c.3331C>T p.R1111W Substitution - Missense Liver COSM990764 SMARCA4 c.4559G>A p.R1520H Substitution - Missense Endometrium COSM3453563 RSF1 c.481C>T p.L161F Substitution - Missense Skin COSM5629745 PHF17 c.704_705insT p.G236fs*38 Insertion - Frameshift Oesophagus COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM5744017 SUV420H2 c.1055_1056insC p.R353fs*108 Insertion - Frameshift Small_intestine COSM5878880 DNMT3A c.691C>T p.Q231* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM2720128 CHD7 c.6648T>C p.N2216N Substitution - coding silent Bone COSM1639824 ARID1A c.6641G>C p.S2214T Substitution - Missense Stomach COSM42026 TET2 c.? p.R1366H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2229055 EP400 c.1818G>A p.P606P Substitution - coding silent Large_intestine COSM1318406 SMCHD1 c.2994T>C p.D998D Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM680971 ZMYM6 c.332C>G p.S111C Substitution - Missense Lung COSM52838 PBRM1 c.3553C>T p.R1185* Substitution - Nonsense Large_intestine COSM5609089 HNF1A c.912C>T p.S304S Substitution - coding silent Skin COSM4895822 TP53BP1 c.1003C>T p.P335S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5347043 ARID1A c.4742A>G p.H1581R Substitution - Missense Endometrium COSM2002848 ATF7IP c.2089C>T p.Q697* Substitution - Nonsense Large_intestine COSM5561415 NCOA6 c.3399T>C p.P1133P Substitution - coding silent Prostate COSM4537527 CREBBP c.2431G>A p.G811R Substitution - Missense Skin COSM2152156 ELP3 c.1311G>A p.L437L Substitution - coding silent Central_nervous_system COSM3762398 TIF1 c.2487A>G p.G829G Substitution - coding silent Soft_tissue COSM3545569 NCOA6 c.394G>A p.E132K Substitution - Missense Skin COSM4079957 UHRF1 c.1543A>T p.T515S Substitution - Missense Stomach COSM4959679 BPTF c.6984G>A p.Q2328Q Substitution - coding silent Liver COSM5945269 KMT2D c.1112+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5431400 BRD1 c.2062G>T p.A688S Substitution - Missense Oesophagus COSM49149 EZH2 c.745G>A p.E249K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3440092 SFMBT2 c.1845C>T p.I615I Substitution - coding silent Skin COSM5380678 PRDM16 c.3733C>T p.P1245S Substitution - Missense Skin COSM2725377 SMARCA1 c.1690A>G p.N564D Substitution - Missense Large_intestine COSM5757139 CHRAC1 c.112A>G p.N38D Substitution - Missense Large_intestine COSM1191646 BAZ1B c.1039A>G p.S347G Substitution - Missense Central_nervous_system COSM5943359 SP100 c.1720+3delA p.? Unknown Skin COSM86979 IKZF1 c.41-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5242631 PRDM9 c.1110C>A p.G370G Substitution - coding silent Oesophagus COSM3766011 SMYD4 c.1684C>T p.R562W Substitution - Missense Liver COSM3935422 SIRT3 c.1104C>T p.H368H Substitution - coding silent Oesophagus COSM5781154 RUVBL1 c.744G>C p.A248A Substitution - coding silent Breast COSM4702474 KMT2C c.14068C>T p.R4690* Substitution - Nonsense Large_intestine COSM1640781 BPTF c.1856A>T p.K619I Substitution - Missense Stomach COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1183572 ARID2 c.881G>T p.R294I Substitution - Missense Skin COSM3026298 STK31 c.1452A>C p.Q484H Substitution - Missense Large_intestine COSM4742390 ZCWPW1 c.1435C>T p.R479* Substitution - Nonsense Large_intestine COSM125338 PHF21A c.1729C>T p.R577C Substitution - Missense Upper_aerodigestive_tract COSM1338151 RBBP5 c.140G>A p.R47Q Substitution - Missense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1666806 BAP1 c.518A>G p.Y173C Substitution - Missense Eye COSM5997655 MLL5 c.2735C>T p.T912M Substitution - Missense Prostate COSM1633004 FXR1 c.775A>G p.T259A Substitution - Missense Liver COSM1688721 ASH1L c.7855C>T p.L2619F Substitution - Missense Skin COSM1688032 BRDT c.1727G>A p.R576K Substitution - Missense Skin COSM4957844 EP300 c.6223C>A p.H2075N Substitution - Missense Liver COSM3735006 TET2 c.? p.L1340R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1614885 MSH6 c.3425C>T p.T1142M Substitution - Missense Liver COSM5596056 AP001011.3_ENST00000320876 c.5527G>A p.A1843T Substitution - Missense Skin COSM5897328 SCMH1 c.520C>T p.P174S Substitution - Missense Skin COSM3637063 HDAC9 c.1824C>T p.L608L Substitution - coding silent Skin COSM133050 EZH2 c.434T>C p.F145S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM455766 SMARCA2 c.3680A>G p.N1227S Substitution - Missense Breast COSM282114 KDM3B c.1445C>A p.P482H Substitution - Missense Large_intestine COSM4476186 SFMBT2 c.204C>T p.I68I Substitution - coding silent Skin COSM34090 IDH2 c.516G>T p.R172S Substitution - Missense Bone COSM4831527 BAZ1B c.4306C>G p.L1436V Substitution - Missense Cervix COSM76528 SMARCD3 c.844A>T p.R282W Substitution - Missense Ovary COSM4913959 AKAP1 c.1468T>C p.C490R Substitution - Missense Liver COSM4539235 JARID2 c.2660G>A p.R887K Substitution - Missense Skin COSM913237 BRDT c.1384G>T p.E462* Substitution - Nonsense Large_intestine COSM2151287 BAZ2A_ENST00000379441 c.1487C>T p.S496F Substitution - Missense Central_nervous_system COSM4904692 SIRT4 c.866C>T p.P289L Substitution - Missense Skin COSM3525454 ASXL3 c.2171C>T p.S724F Substitution - Missense Skin COSM4911743 TAF1 c.2264A>G p.H755R Substitution - Missense Liver COSM4066640 EZH1 c.973G>A p.E325K Substitution - Missense Stomach COSM2042562 SUV420H1 c.5A>C p.K2T Substitution - Missense Upper_aerodigestive_tract COSM4489919 MTA2 c.354C>T p.S118S Substitution - coding silent Skin COSM1318632 TET2 c.822delC p.N275fs*18 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4729934 SRCAP c.3262_3263insC p.L1090fs*37 Insertion - Frameshift Large_intestine COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Upper_aerodigestive_tract COSM5944296 TET2 c.5331_5332delTC p.H1778fs*10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM942787 ING4 c.307G>T p.D103Y Substitution - Missense Endometrium COSM5434190 BRPF3 c.2447C>T p.A816V Substitution - Missense Oesophagus COSM5927929 BRWD3 c.4982G>A p.G1661E Substitution - Missense Skin COSM4383831 TET2 c.2068C>T p.Q690* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4689606 HCFC2 c.1009delA p.A339fs*2 Deletion - Frameshift Large_intestine COSM52947 IDH2 c.? p.R172? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1622592 KMT2C c.13349T>C p.V4450A Substitution - Missense Liver COSM4467229 KMT2D c.13972C>T p.P4658S Substitution - Missense Skin COSM749484 ATAD2 c.403G>A p.A135T Substitution - Missense Lung COSM3973879 ATRX c.6539T>C p.V2180A Substitution - Missense Central_nervous_system COSM3952656 TAF1L c.2001G>T p.K667N Substitution - Missense Lung COSM4603245 PCGF6 c.84_85insGCCTCC p.P28_V29insAS Insertion - In frame Upper_aerodigestive_tract COSM5185342 KDM4B c.2220G>A p.T740T Substitution - coding silent Large_intestine COSM5611333 KMT2A c.8221_8222CC>TT p.P2741L Substitution - Missense Skin COSM5760507 CREBBP c.4646T>A p.L1549* Substitution - Nonsense Bone COSM6000432 HDAC7 c.1570T>G p.Y524D Substitution - Missense Prostate COSM222118 HDAC9 c.2045G>A p.R682Q Substitution - Missense Skin COSM4481478 KDM3B c.2512C>T p.P838S Substitution - Missense Skin COSM32310 ERCC6 c.1771C>G p.P591A Substitution - Missense Large_intestine COSM1560993 PCGF6 c.83_84insGCCTCC p.P28_V29insPP Insertion - In frame Large_intestine COSM3645232 PHF20L1 c.22C>T p.R8C Substitution - Missense Skin COSM1195950 KMT2D c.9872C>A p.A3291D Substitution - Missense Lung COSM1737882 TET2 c.3578G>A p.C1193Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4092276 SP100 c.1006G>A p.D336N Substitution - Missense Stomach COSM4887315 CHD8 c.7014G>C p.E2338D Substitution - Missense Upper_aerodigestive_tract COSM1630548 AP001011.3_ENST00000320876 c.2416G>C p.G806R Substitution - Missense Liver COSM920520 KAT6B c.510G>A p.P170P Substitution - coding silent Stomach COSM689655 MEN1 c.1222G>C p.E408Q Substitution - Missense Lung COSM937143 EP400 c.1722G>A p.A574A Substitution - coding silent Endometrium COSM1489872 PSIP1 c.158_159insT p.L53fs*13 Insertion - Frameshift Breast COSM363443 KMT2C c.595C>T p.R199* Substitution - Nonsense Lung COSM1602331 MEAF6 c.224A>G p.N75S Substitution - Missense Liver COSM3563689 BRWD3 c.1153G>A p.D385N Substitution - Missense Skin COSM467316 SUV420H1 c.593T>G p.L198W Substitution - Missense Kidney COSM233662 TRRAP c.11141G>A p.G3714E Substitution - Missense Skin COSM133005 ARID1A c.1848_1848delC p.S617fs*2 Deletion - Frameshift Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3714929 CLOCK c.1408C>T p.H470Y Substitution - Missense Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4954995 HNF1A c.724A>T p.I242F Substitution - Missense Liver COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4982626 EPC2 c.47C>A p.P16Q Substitution - Missense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3300282 BAZ2B c.2236C>T p.R746C Substitution - Missense Large_intestine COSM4429344 UTY c.2689G>A p.D897N Substitution - Missense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5034063 PCGF2 c.887A>C p.H296P Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1025732 ASXL1 c.3626G>A p.S1209N Substitution - Missense Endometrium COSM1492364 TAF3 c.2021T>C p.V674A Substitution - Missense Kidney COSM5823386 KDM3A c.3069C>G p.F1023L Substitution - Missense Liver COSM1747736 POGZ c.3215C>A p.A1072D Substitution - Missense Urinary_tract COSM1615691 NCOA3 c.20A>G p.N7S Substitution - Missense Liver COSM4418369 HDAC9 c.1909+6A>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5779506 CBX4 c.1640C>G p.A547G Substitution - Missense Breast COSM1342127 ZMYM4 c.1282delA p.K430fs*6 Deletion - Frameshift Large_intestine COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4624807 CAMKMT c.763G>A p.G255R Substitution - Missense Large_intestine COSM87007 DNMT3A c.2711C>T p.P904L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM897353 HDGF c.459G>A p.A153A Substitution - coding silent Endometrium COSM41485 KMT2D c.6101C>A p.S2034* Substitution - Nonsense Lung COSM1666643 SMARCA4 c.? p.T910M Substitution - Missense Ovary COSM1315341 HCFC1 c.1311G>T p.V437V Substitution - coding silent Urinary_tract COSM291201 PHF7 c.213G>T p.R71S Substitution - Missense Large_intestine COSM479021 TCF20 c.5567A>T p.E1856V Substitution - Missense Kidney COSM4031017 ARID1A c.4381C>T p.R1461* Substitution - Nonsense Oesophagus COSM3757367 TRIM28 c.1170G>A p.K390K Substitution - coding silent Large_intestine COSM451292 RING1 c.1004A>G p.E335G Substitution - Missense Upper_aerodigestive_tract COSM427852 SFMBT2 c.801A>G p.E267E Substitution - coding silent Breast COSM4791668 TP53BP1 c.3814-1G>T p.? Unknown Liver COSM1167991 ARID2 c.890C>T p.S297F Substitution - Missense Skin COSM1731503 PRDM5 c.1159delC p.H387fs*38 Deletion - Frameshift Liver COSM5019541 DAXX c.2112C>T p.A704A Substitution - coding silent Soft_tissue COSM4385066 ASXL1 c.1205G>A p.R402Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM693632 KDM5A c.190G>C p.E64Q Substitution - Missense Lung COSM5974049 CHD6 c.1488C>T p.S496S Substitution - coding silent Upper_aerodigestive_tract COSM255312 SMARCA4 c.3727C>T p.R1243W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM750471 WHSC1L1 c.1336G>C p.E446Q Substitution - Missense Lung COSM478608 PRDM15 c.3659A>T p.D1220V Substitution - Missense Kidney COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1002 SMARCB1 c.118C>T p.R40* Substitution - Nonsense Soft_tissue COSM24911 HNF1A c.686G>A p.R229Q Substitution - Missense Liver COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43445 TET2 c.5642A>G p.H1881R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85856 MEN1 c.654+1G>T p.? Unknown Pancreas COSM85911 IKZF1 c.161-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53002 EZH2 c.786_787insC p.N263fs*8 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM71633 MGA c.7451G>A p.R2484Q Substitution - Missense Large_intestine COSM87085 TET2 c.1240C>T p.Q414* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM112087 TDG c.286_287insA p.I98fs*6 Insertion - Frameshift Central_nervous_system COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Soft_tissue COSM147298 EED c.1199+10T>C p.? Unknown Stomach COSM243666 CHD1 c.3346C>T p.R1116W Substitution - Missense Prostate COSM231556 DNMT3A c.1640T>A p.L547H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM254818 KMT2C c.658C>T p.Q220* Substitution - Nonsense Urinary_tract COSM287709 DIDO1 c.453C>T p.T151T Substitution - coding silent Large_intestine COSM352355 PRMT3 c.118G>A p.D40N Substitution - Missense Lung COSM367740 ACTB c.272A>G p.Y91C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM392787 KMT2C c.6473delC p.P2158fs*37 Deletion - Frameshift Lung COSM436090 NCOR1 c.3477A>T p.P1159P Substitution - coding silent Breast COSM458069 ATRX c.6589C>T p.R2197C Substitution - Missense Breast COSM452651 SMARCD3 c.1130G>A p.S377N Substitution - Missense Breast COSM464418 PRDM16 c.49G>A p.V17I Substitution - Missense Stomach COSM478050 NCOA6 c.4718C>A p.P1573Q Substitution - Missense Kidney COSM980868 MYST2 c.1643C>T p.T548M Substitution - Missense Prostate COSM480356 PBRM1 c.2536G>T p.E846* Substitution - Nonsense Kidney COSM52842 PBRM1 c.1318C>T p.Q440* Substitution - Nonsense Kidney COSM1028963 DIDO1 c.6579G>A p.R2193R Substitution - coding silent Endometrium COSM755702 MECP2 c.980C>A p.T327N Substitution - Missense Lung COSM920524 KAT6B c.1717C>T p.R573C Substitution - Missense Endometrium COSM708176 SMCHD1 c.2352-1G>T p.? Unknown Lung COSM904641 LBR c.1240G>A p.A414T Substitution - Missense Endometrium COSM896679 PYGO2 c.1101G>A p.G367G Substitution - coding silent Endometrium COSM932193 RSF1 c.3692G>A p.R1231Q Substitution - Missense Endometrium COSM999819 KDM4B c.1524C>T p.V508V Substitution - coding silent Endometrium COSM1045439 SETD2 c.4562G>C p.R1521P Substitution - Missense Endometrium COSM1246251 BRWD1 c.6714_6722delAACGAGAAA p.K2238_R2240delKTR Deletion - In frame Stomach COSM1169585 PBRM1 c.3415_3421delTCCAATG p.S1139fs*18 Deletion - Frameshift Kidney COSM1203536 DHX30 c.887G>A p.R296H Substitution - Missense Large_intestine COSM1181711 ACTA1 c.941G>A p.R314H Substitution - Missense Large_intestine COSM1265343 SETD4 c.890A>G p.Y297C Substitution - Missense Oesophagus COSM1180098 KMT2C c.1005T>A p.P335P Substitution - coding silent Breast COSM1212952 L3MBTL4 c.476A>C p.K159T Substitution - Missense Large_intestine COSM1161253 SMARCA4 c.2918G>A p.R973Q Substitution - Missense Stomach COSM1313463 TRRAP c.4182G>A p.L1394L Substitution - coding silent Urinary_tract COSM1325378 GATAD2A c.97G>A p.A33T Substitution - Missense Bone COSM1329293 SIRT5 c.766C>G p.P256A Substitution - Missense Ovary COSM1427433 PRMT10 c.657C>T p.V219V Substitution - coding silent Large_intestine COSM1468089 PHF16 c.1100delA p.N368fs*58 Deletion - Frameshift Large_intestine COSM1361277 KDM5A c.570A>C p.E190D Substitution - Missense Large_intestine COSM1363776 CHD4 c.417G>T p.E139D Substitution - Missense Soft_tissue COSM1338728 SMYD2 c.591G>A p.A197A Substitution - coding silent Large_intestine COSM1358312 TDG c.245_246insA p.S85fs*19 Insertion - Frameshift Large_intestine COSM1612590 KDM4B c.73T>C p.F25L Substitution - Missense Liver COSM1624177 NCOA2 c.1624G>A p.E542K Substitution - Missense Liver COSM1642932 ARID1B c.6331G>T p.E2111* Substitution - Nonsense Stomach COSM1673858 ASH2L c.1219T>C p.Y407H Substitution - Missense Ovary COSM1643095 TDRD6 c.4550_4551insA p.M1520fs*13 Insertion - Frameshift Stomach COSM1667707 BRDT c.1594C>T p.R532* Substitution - Nonsense Pancreas COSM1659023 SMARCA2 c.4582T>A p.S1528T Substitution - Missense Salivary_gland COSM1757092 SMARCC1 c.2476G>A p.E826K Substitution - Missense Urinary_tract COSM1748818 BAZ1A c.3083T>C p.I1028T Substitution - Missense Urinary_tract COSM1753308 PBRM1 c.4488G>A p.R1496R Substitution - coding silent Urinary_tract COSM1732051 BAP1 c.1558T>C p.S520P Substitution - Missense Kidney COSM1732175 SETD2 c.2420C>A p.S807* Substitution - Nonsense Kidney COSM1936445 BAZ2A_ENST00000379441 c.5365C>T p.R1789* Substitution - Nonsense Stomach COSM2006617 KMT2D c.14831G>A p.R4944H Substitution - Missense Prostate COSM144602 KMT2D c.14357T>C p.L4516P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2153367 AICDA c.232G>A p.V78I Substitution - Missense Oesophagus COSM2229100 EP400 c.3596T>A p.V1199D Substitution - Missense Bone COSM3384360 ARID2 c.3799G>T p.E1267* Substitution - Nonsense Pancreas COSM3384754 ZMYM2 c.3641C>A p.A1214D Substitution - Missense Pancreas COSM3508902 SRCAP c.3750C>T p.L1250L Substitution - coding silent Skin COSM3423807 DIDO1 c.3914C>T p.S1305L Substitution - Missense Stomach COSM3430716 TDRD6 c.5576C>A p.S1859Y Substitution - Missense Large_intestine COSM3450372 PHRF1 c.920C>T p.S307F Substitution - Missense Skin COSM3461563 KMT2D c.6805C>T p.P2269S Substitution - Missense Skin COSM3460329 PRMT8 c.142C>T p.H48Y Substitution - Missense Skin COSM3596989 ATXN7 c.1242G>A p.P414P Substitution - coding silent Kidney COSM3524746 AP001011.3_ENST00000320876 c.2506C>T p.R836C Substitution - Missense Skin COSM3662035 CHD1 c.4501A>G p.I1501V Substitution - Missense Liver COSM3649292 MYST3 c.5377C>T p.Q1793* Substitution - Nonsense Skin COSM3647907 ELP3 c.193C>T p.P65S Substitution - Missense Skin COSM3690709 SETD1A c.3033C>T p.S1011S Substitution - coding silent Large_intestine COSM3673978 SETD2 c.4280C>A p.P1427Q Substitution - Missense Prostate COSM3708071 PRDM15 c.3109G>A p.A1037T Substitution - Missense Liver COSM3736953 BAP1 c.2057-2delA p.? Unknown Skin COSM3722551 KMT2D c.6669G>T p.G2223G Substitution - coding silent Soft_tissue COSM3768142 PHF15 c.642C>T p.N214N Substitution - coding silent Liver COSM3795984 BPTF c.4180G>C p.E1394Q Substitution - Missense Urinary_tract COSM3861750 BAG6 c.1203T>A p.P401P Substitution - coding silent Stomach COSM3942055 TIF1 c.1985G>A p.S662N Substitution - Missense Oesophagus COSM3947395 PRDM9 c.1145-4T>C p.? Unknown Lung COSM3972885 SMARCB1 c.1129C>T p.R377C Substitution - Missense Central_nervous_system COSM3955895 CHD8 c.4874G>T p.W1625L Substitution - Missense Lung COSM4015931 KAT6B c.5279C>T p.P1760L Substitution - Missense Stomach COSM4004383 KMT2C c.9235C>T p.R3079* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4054557 MGA c.2652T>G p.Y884* Substitution - Nonsense Stomach COSM4038327 PRDM4 c.2154G>A p.K718K Substitution - coding silent Stomach COSM3986693 HNF1A c.1589T>C p.L530P Substitution - Missense Kidney COSM4119255 SFMBT1 c.954C>T p.H318H Substitution - coding silent Stomach COSM4143857 ZMYM4 c.961G>T p.A321S Substitution - Missense Thyroid COSM4162010 KMT2C c.2573G>T p.W858L Substitution - Missense Thyroid COSM4383921 TET2 c.3844G>C p.G1282R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384151 MLL5 c.1369G>A p.V457M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4387954 MBD5 c.1084G>C p.D362H Substitution - Missense Pancreas COSM41598 ASXL1 c.1210C>T p.R404* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4405580 SMN1 c.876C>T p.S292S Substitution - coding silent Skin COSM4391736 SMARCA5 c.2348A>T p.E783V Substitution - Missense Prostate COSM4603609 EP300 c.4894_4895insGGACCA p.L1631_T1632insRT Insertion - In frame Haematopoietic_and_lymphoid_tissue COSM4435973 TAF1L c.4601T>C p.V1534A Substitution - Missense Large_intestine COSM4566725 BAP1 c.456_457CC>TT p.P153S Substitution - Missense Skin COSM4593566 PHC1 c.1537_1548del12 p.K514_A517delKMSA Deletion - In frame Upper_aerodigestive_tract COSM4719549 PWWP2B c.304delC p.P103fs*83 Deletion - Frameshift Large_intestine COSM4672026 CHD4 c.1143G>A p.E381E Substitution - coding silent Large_intestine COSM4665024 BAG6 c.2156G>T p.S719I Substitution - Missense Large_intestine COSM4606976 KMT2A c.2887A>T p.K963* Substitution - Nonsense Adrenal_gland COSM4614702 KMT2D c.14080delC p.R4694fs*31 Deletion - Frameshift Large_intestine COSM4750883 PRMT3 c.194C>A p.S65* Substitution - Nonsense Stomach COSM4800872 KMT2C c.1933G>T p.D645Y Substitution - Missense Liver COSM4885274 SMARCA5 c.3029G>C p.R1010T Substitution - Missense Upper_aerodigestive_tract COSM4909438 BTAF1 c.2537A>G p.N846S Substitution - Missense Liver COSM4843733 TET2 c.4591C>G p.L1531V Substitution - Missense Cervix COSM4825673 NCOR1 c.5828C>T p.S1943L Substitution - Missense Cervix COSM5031759 ARID1A c.1624C>T p.Q542* Substitution - Nonsense Pancreas COSM5057595 BRWD1 c.909G>A p.W303* Substitution - Nonsense Stomach COSM5120257 ATRX c.4749G>T p.K1583N Substitution - Missense Large_intestine COSM5037061 SMCHD1 c.1092G>C p.Q364H Substitution - Missense Oesophagus COSM5040490 PRDM14 c.1042A>T p.I348L Substitution - Missense Liver COSM5343485 TRIM28 c.1102-8C>T p.? Unknown Large_intestine COSM5477584 PHF21A c.1115C>A p.S372Y Substitution - Missense Large_intestine COSM5640505 ARID2 c.4258G>A p.V1420I Substitution - Missense Oesophagus COSM5631653 ASH1L c.1641C>T p.F547F Substitution - coding silent Oesophagus COSM5720373 KDM3B c.3621C>T p.A1207A Substitution - coding silent Skin COSM5737540 EHMT2 c.900A>C p.E300D Substitution - Missense Small_intestine COSM5605881 MINA c.897C>T p.S299S Substitution - coding silent Skin COSM5599907 MBD5 c.2762C>T p.S921F Substitution - Missense Skin COSM5610631 SMARCA4 c.3169G>T p.E1057* Substitution - Nonsense Skin COSM5671438 KMT2C c.10699A>C p.S3567R Substitution - Missense Soft_tissue COSM5752283 KMT2C c.1796_1799delATAG p.D599fs*12 Deletion - Frameshift Breast COSM5691614 TDRD7 c.3273G>C p.L1091L Substitution - coding silent Soft_tissue COSM5687575 MBD2 c.255A>C p.G85G Substitution - coding silent Soft_tissue COSM5764947 KDM2A c.1993G>T p.E665* Substitution - Nonsense Large_intestine COSM5553356 BRPF1 c.1107G>C p.E369D Substitution - Missense Prostate COSM5558454 BAZ2B c.3539T>C p.L1180S Substitution - Missense Prostate COSM5782331 HCFC2 c.1711G>A p.E571K Substitution - Missense Breast COSM5878746 DNMT3A c.2544delT p.P849fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5920982 FTO c.1098A>T p.Q366H Substitution - Missense Skin COSM5961578 ARID4A c.2612delT p.I871fs*7 Deletion - Frameshift Adrenal_gland COSM5973803 CAMKMT c.781G>T p.A261S Substitution - Missense Upper_aerodigestive_tract COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1685368 TET2 c.? p.Q769* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5020099 MEN1 c.435C>T p.S145S Substitution - coding silent Soft_tissue COSM5017539 HCFC2 c.331delA p.V113fs*1 Deletion - Frameshift Soft_tissue COSM5945267 KMT2D c.2713C>T p.Q905* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM330639 EZH2 c.? p.E242* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1216523 MYST2 c.786A>T p.E262D Substitution - Missense Large_intestine COSM1238712 DNMT3B c.1183G>A p.A395T Substitution - Missense Prostate COSM1183557 ARID1B c.4250C>T p.P1417L Substitution - Missense Large_intestine COSM253680 BRPF3 c.1555C>G p.L519V Substitution - Missense Urinary_tract COSM216867 KDM6A c.1819G>A p.V607M Substitution - Missense Pancreas COSM86082 KMT2C c.2418C>G p.S806S Substitution - coding silent Soft_tissue COSM5847801 CHD8 c.4418G>A p.R1473H Substitution - Missense Prostate COSM21481 HNF1A c.872_873insC p.G292fs*25 Insertion - Frameshift Liver COSM163441 PHF16 c.862A>G p.I288V Substitution - Missense Breast COSM488487 PHF8 c.428C>A p.T143N Substitution - Missense Kidney COSM3358419 KDM5C c.1915_1916insA p.Y639fs*1 Insertion - Frameshift Kidney COSM108566 TAF1L c.1765G>T p.D589Y Substitution - Missense Skin COSM219174 HDAC9 c.2819C>T p.T940M Substitution - Missense Oesophagus COSM5883548 NCOA6 c.5731C>T p.P1911S Substitution - Missense Skin COSM3821461 SETBP1 c.335G>A p.R112Q Substitution - Missense Breast COSM4121667 PRDM5 c.29T>C p.F10S Substitution - Missense Stomach COSM4404707 SMARCD3 c.1192A>C p.S398R Substitution - Missense Skin COSM1720387 SETD1A c.3889C>T p.L1297F Substitution - Missense Skin COSM1351609 KMT2A c.2312delC p.P773fs*8 Deletion - Frameshift Large_intestine COSM5999828 KAT5 c.211A>G p.S71G Substitution - Missense Prostate COSM86976 IKZF1 c.1-?_40+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM332817 ARID1A c.1435C>T p.Q479* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4076238 DOT1L c.1772C>T p.A591V Substitution - Missense Stomach COSM53130 TET2 c.? p.Y1569fs*1 Frameshift Haematopoietic_and_lymphoid_tissue COSM5825003 ATRX c.6327-9C>A p.? Unknown Pancreas COSM1351609 KMT2A c.2312delC p.P773fs*8 Deletion - Frameshift Soft_tissue COSM1161390 ADNP c.1663C>T p.Q555* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1466702 HCFC1 c.1070delC p.P357fs*34 Deletion - Frameshift Large_intestine COSM4100177 DIDO1 c.6296C>A p.P2099Q Substitution - Missense Stomach COSM3828001 NIPBL c.2250A>C p.K750N Substitution - Missense Breast COSM1080975 PHF3 c.5936G>A p.R1979Q Substitution - Missense Endometrium COSM43427 TET2 c.4609C>T p.Q1537* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5756291 DHX30 c.1394C>T p.T465M Substitution - Missense Large_intestine COSM5822580 JHDM1D c.128G>A p.R43Q Substitution - Missense Liver COSM3733473 KMT2C c.7894_7896delCAA p.Q2633delQ Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM3688234 KMT2D c.5684C>T p.P1895L Substitution - Missense Large_intestine COSM1169481 BAP1 c.2101C>T p.R701C Substitution - Missense Kidney COSM3429898 HDAC2 c.593C>A p.S198* Substitution - Nonsense Large_intestine COSM144626 PHF6 c.955C>T p.R319* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4902487 TRIM24 c.1476T>C p.G492G Substitution - coding silent Skin COSM395880 ADNP c.2028C>T p.T676T Substitution - coding silent Lung COSM5575751 IDH2 c.374-1G>C p.? Unknown Stomach COSM910651 ORC1 c.1439C>A p.A480D Substitution - Missense Endometrium COSM3447093 RAG2 c.661G>A p.G221R Substitution - Missense Skin COSM1472590 SETDB1 c.3176G>A p.R1059Q Substitution - Missense Large_intestine COSM5359843 JMJD1C c.4476T>C p.T1492T Substitution - coding silent Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM4054461 INOC1 c.4023C>T p.D1341D Substitution - coding silent Stomach COSM41296 IDH2 c.? p.R172W Substitution - Missense Bone COSM3717890 ASXL3 c.664A>G p.I222V Substitution - Missense Liver COSM4779912 BAZ2A c.459G>A p.S153S Substitution - coding silent Liver COSM358467 PWWP2B c.241G>T p.G81W Substitution - Missense Lung COSM3434300 TDRD1 c.2799G>A p.T933T Substitution - coding silent Skin COSM4331545 WHSC1 c.1678G>C p.D560H Substitution - Missense Large_intestine COSM1292686 ASH2L c.110C>T p.A37V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4471174 PHF20 c.1703C>T p.P568L Substitution - Missense Skin COSM1936606 BAZ2A_ENST00000379441 c.1867G>T p.E623* Substitution - Nonsense Skin COSM4856161 TDRD1 c.3041G>A p.G1014E Substitution - Missense Cervix COSM2080132 ZMYM1 c.2717A>G p.D906G Substitution - Missense Large_intestine COSM85916 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3631922 PHF14 c.1729C>T p.R577C Substitution - Missense Skin COSM4603590 KMT2C c.2448_2449insA p.I817fs*11 Insertion - Frameshift Upper_aerodigestive_tract COSM1063507 HDAC3 c.295G>A p.G99R Substitution - Missense Endometrium COSM4439733 KAT2B c.2032C>A p.Q678K Substitution - Missense Oesophagus COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM130409 TET2 c.2116C>T p.Q706* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1087649 KMT2C c.2056A>C p.K686Q Substitution - Missense Endometrium COSM4054372 BAHD1 c.2050G>A p.E684K Substitution - Missense Stomach COSM1737571 HAT1 c.823+1G>A p.? Unknown Central_nervous_system COSM4579482 RAI1 c.223G>T p.A75S Substitution - Missense Bone COSM5985546 DNMT3A c.768delC p.T257fs*59 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1630066 NCOR1 c.515C>T p.S172L Substitution - Missense Upper_aerodigestive_tract COSM969949 SRCAP c.8218C>T p.Q2740* Substitution - Nonsense Endometrium COSM431203 KMT2D c.10026G>A p.Q3342Q Substitution - coding silent Soft_tissue COSM961489 MGA c.145G>A p.A49T Substitution - Missense Endometrium COSM1114779 SMARCA1 c.2590G>A p.D864N Substitution - Missense Endometrium COSM731427 SETD5_ENST00000402198 c.751G>A p.D251N Substitution - Missense Lung COSM5968141 HCFC1 c.283G>T p.G95W Substitution - Missense Genital_tract COSM3525862 SETBP1 c.2225C>T p.P742L Substitution - Missense Skin COSM87012 DNMT3A c.1903C>T p.R635W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2837353 PCGF2 c.302A>G p.Y101C Substitution - Missense Large_intestine COSM1189515 AKAP1 c.1558T>G p.C520G Substitution - Missense Lung COSM317183 CREBBP c.3697A>T p.R1233W Substitution - Missense Lung COSM5353940 EPC2 c.811delA p.R272fs*15 Deletion - Frameshift Large_intestine COSM4614825 RERE c.3091delC p.Q1031fs*50 Deletion - Frameshift Large_intestine COSM231550 DNMT3A c.1904G>C p.R635P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3685963 RERE c.3568_3573delAAGGAG p.K1190_E1191delKE Deletion - In frame Large_intestine COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5359456 KIAA1045 c.778C>T p.R260* Substitution - Nonsense Large_intestine COSM2221776 TRIM66 c.3073G>A p.D1025N Substitution - Missense Large_intestine COSM79541 BAZ1B c.2397A>G p.K799K Substitution - coding silent Ovary COSM1666862 ARID1A c.? p.? Unknown Endometrium COSM4574900 KDM4D c.1113G>A p.A371A Substitution - coding silent Liver COSM2270431 RTF1 c.1735delA p.K580fs*>6 Deletion - Frameshift Large_intestine COSM3627960 TDRD6 c.4363C>T p.Q1455* Substitution - Nonsense Skin COSM1583119 DNMT3A c.2409_2422del14 p.R803fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3622265 ARID1B c.1852C>T p.P618S Substitution - Missense Skin COSM24901 HNF1A c.71_82del12 p.I27_L30delIQAL Deletion - In frame Liver COSM5422991 MTA1 c.1925C>T p.P642L Substitution - Missense Prostate COSM5640618 ARID2 c.4675G>T p.G1559* Substitution - Nonsense Oesophagus COSM255965 CREBBP c.1447C>T p.R483* Substitution - Nonsense Central_nervous_system COSM4902902 STK31 c.1833+2T>C p.? Unknown Skin COSM3567471 MBD5 c.4425C>T p.I1475I Substitution - coding silent Skin COSM5715681 PHF21B c.1213G>A p.E405K Substitution - Missense Skin COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Central_nervous_system COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3656854 TAF1L c.2591G>T p.R864M Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5392061 CHD6 c.7768C>T p.P2590S Substitution - Missense Skin COSM435143 SETD1A c.69C>T p.I23I Substitution - coding silent Breast COSM1086207 JHDM1D c.491A>C p.K164T Substitution - Missense Endometrium COSM4920091 PBRM1 c.1414C>T p.R472* Substitution - Nonsense Liver COSM1716657 ATRX c.2341C>T p.R781* Substitution - Nonsense Central_nervous_system COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4119802 ATXN7 c.1765T>C p.C589R Substitution - Missense Stomach COSM3396048 KDM4D c.309T>C p.H103H Substitution - coding silent Prostate COSM25171 CHD9 c.3774C>T p.T1258T Substitution - coding silent Skin COSM1049745 TET2 c.972A>C p.Q324H Substitution - Missense Endometrium COSM4822443 TRRAP c.6394G>A p.D2132N Substitution - Missense Cervix COSM1639822 ARID1A c.5689delC p.P1898fs*25 Deletion - Frameshift Stomach COSM53161 TET2 c.? p.R1452* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4742911 ZMYM2 c.4026G>A p.T1342T Substitution - coding silent Large_intestine COSM5024956 SETD2 c.2085G>T p.Q695H Substitution - Missense Breast COSM4666128 BRD8 c.1567G>A p.E523K Substitution - Missense Large_intestine COSM216212 SMC1A c.2369G>A p.R790Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM122027 TET1 c.5347C>A p.R1783R Substitution - coding silent Upper_aerodigestive_tract COSM2783428 ATXN7 c.2457C>T p.H819H Substitution - coding silent Large_intestine COSM3742614 INO80C c.461A>G p.D154G Substitution - Missense Liver COSM5450533 PRDM12 c.725G>A p.R242H Substitution - Missense Large_intestine COSM1747745 TDRKH c.1560C>T p.L520L Substitution - coding silent Urinary_tract COSM306878 KDM6A c.4134_4138CAAAA>CAAAAA p.Y1378fs Complex Central_nervous_system COSM1677489 EP400 c.3934G>A p.A1312T Substitution - Missense Large_intestine COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5779943 MSL3 c.1165G>C p.E389Q Substitution - Missense Breast COSM4762903 GATAD2B c.983C>T p.T328M Substitution - Missense Stomach COSM1709078 SRCAP c.6563A>G p.D2188G Substitution - Missense Skin COSM4013849 EPC1 c.1048G>A p.A350T Substitution - Missense Stomach COSM4603621 EZH2 c.?_?ins? p.S21fs*? Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5773690 KDM1B c.989A>G p.N330S Substitution - Missense Breast COSM1088801 CBX3 c.28A>C p.K10Q Substitution - Missense Endometrium COSM5016014 PBRM1 c.295delC p.Q99fs*3 Deletion - Frameshift Kidney COSM5835985 SMC1A c.1885_1886insA p.A629fs*30 Insertion - Frameshift Breast COSM4845041 JMJD6 c.355G>A p.E119K Substitution - Missense Cervix COSM4961512 BAHCC1 c.4018G>A p.A1340T Substitution - Missense Liver COSM3719643 PRDM1 c.472C>A p.Q158K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5392257 EYA2 c.1227C>A p.T409T Substitution - coding silent Skin COSM4496155 GTF3C1 c.4690C>T p.P1564S Substitution - Missense Skin COSM1061343 KDM3B c.2340G>A p.P780P Substitution - coding silent Large_intestine COSM1681758 ADNP c.2747T>G p.I916S Substitution - Missense Large_intestine COSM390171 SP140_ENST00000392045 c.1623G>C p.L541L Substitution - coding silent Lung COSM5353473 PHC2 c.919C>T p.R307W Substitution - Missense Large_intestine COSM3545557 NCOA6 c.4145C>T p.A1382V Substitution - Missense Skin COSM1665890 CCDC101 c.224+1G>A p.? Unknown Kidney COSM1462005 TAF1L c.2784delT p.F928fs*13 Deletion - Frameshift Large_intestine COSM1462026 TAF1L c.113C>T p.A38V Substitution - Missense Large_intestine COSM1617684 SETD2 c.1661A>T p.D554V Substitution - Missense Liver COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4525762 EP400 c.1351G>A p.G451R Substitution - Missense Skin COSM2230149 PRDM2 c.4146C>T p.G1382G Substitution - coding silent Stomach COSM5413486 TRRAP c.1197C>T p.V399V Substitution - coding silent Skin COSM1612159 DPF1 c.977C>T p.A326V Substitution - Missense Liver COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1383594 HDAC5 c.2793delC p.I932fs*14 Deletion - Frameshift Large_intestine COSM1183887 ATF7IP c.475C>G p.P159A Substitution - Missense Biliary_tract COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3379218 BAZ2B c.4118G>A p.R1373H Substitution - Missense Pancreas COSM5960270 KDM4B c.2901G>A p.T967T Substitution - coding silent Thyroid COSM1315669 ZMYM3 c.763G>C p.D255H Substitution - Missense Urinary_tract COSM5417528 ATRX c.2863A>C p.K955Q Substitution - Missense Endometrium COSM5095293 PBRM1 c.4702C>T p.R1568W Substitution - Missense Thymus COSM5566044 CXXC1 c.1294C>T p.R432C Substitution - Missense Prostate COSM1044868 SETMAR c.774C>A p.L258L Substitution - coding silent Endometrium COSM4797694 ORC1 c.605G>A p.W202* Substitution - Nonsense Liver COSM160044 CLOCK c.1945C>T p.L649L Substitution - coding silent Breast COSM716474 MBD5 c.2171G>A p.G724E Substitution - Missense Lung COSM674886 PRDM2 c.4239G>A p.S1413S Substitution - coding silent Lung COSM1128042 ERCC6 c.4399C>T p.R1467* Substitution - Nonsense Prostate COSM1114777 SMARCA1 c.2654G>A p.R885Q Substitution - Missense Endometrium COSM4771402 PBRM1 c.3698G>T p.C1233F Substitution - Missense Kidney COSM4459281 SRCAP c.1119C>T p.P373P Substitution - coding silent Skin COSM3061760 TCF20 c.4118C>T p.A1373V Substitution - Missense Prostate COSM88760 CREBBP c.3517C>T p.R1173* Substitution - Nonsense Urinary_tract COSM745597 HDAC9 c.1963A>T p.T655S Substitution - Missense Lung COSM5987525 NCOA2 c.661C>T p.H221Y Substitution - Missense Salivary_gland COSM1677490 EP400 c.4864C>A p.L1622I Substitution - Missense Large_intestine COSM2030150 CHD8 c.1636C>T p.R546C Substitution - Missense Large_intestine COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM4473258 NCOA6 c.1839C>T p.P613P Substitution - coding silent Skin COSM1609408 CHD9 c.1452+3A>G p.? Unknown Liver COSM1135651 MGA c.6617A>G p.E2206G Substitution - Missense Kidney COSM296643 UBR7 c.1161C>T p.L387L Substitution - coding silent Large_intestine COSM961534 MGA c.7453C>T p.R2485C Substitution - Missense Endometrium COSM4426229 SETD1A c.3012G>A p.S1004S Substitution - coding silent Oesophagus COSM1568400 RING1 c.368G>A p.R123Q Substitution - Missense Large_intestine COSM3904540 SET c.313C>T p.H105Y Substitution - Missense Stomach COSM5878837 DNMT3A c.1474+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4754286 ARID2 c.1142T>A p.L381H Substitution - Missense Stomach COSM1682943 FMR1 c.590C>A p.S197Y Substitution - Missense Large_intestine COSM1444988 CDYL c.1625C>T p.S542L Substitution - Missense Large_intestine COSM4826294 NCOA3 c.2012C>G p.S671C Substitution - Missense Cervix COSM894179 TRIM33 c.2605C>T p.H869Y Substitution - Missense Endometrium COSM4000327 CBX4 c.871T>C p.S291P Substitution - Missense Upper_aerodigestive_tract COSM4586098 PRDM13 c.1602C>A p.A534A Substitution - coding silent Bone COSM1732940 KMT2A c.8449G>A p.D2817N Substitution - Missense Pancreas COSM1756618 KDM5C c.1538G>T p.W513L Substitution - Missense Urinary_tract COSM5013006 MYST1 c.109T>A p.S37T Substitution - Missense Kidney COSM1716637 ATRX c.1432delG p.V478fs*36 Deletion - Frameshift Central_nervous_system COSM941762 BAZ2A_ENST00000379441 c.2518C>T p.R840* Substitution - Nonsense Large_intestine COSM5880233 PHIP c.4381A>G p.K1461E Substitution - Missense Skin COSM4823054 AP001011.3_ENST00000320876 c.3604G>A p.D1202N Substitution - Missense Cervix COSM4040548 ATF7IP c.3375A>C p.R1125R Substitution - coding silent Stomach COSM22660 MEN1 c.212_218delCGCCTGG p.P72fs*45 Deletion - Frameshift Pancreas COSM87002 DNMT3A c.1627G>T p.G543C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4839669 TDRD6 c.3456T>G p.I1152M Substitution - Missense Cervix COSM1613720 ATF2 c.33-2A>C p.? Unknown Liver COSM3883997 ZCWPW1 c.1599A>G p.Q533Q Substitution - coding silent Stomach COSM1245439 ARID1A c.6045delC p.L2016fs*14 Deletion - Frameshift Oesophagus COSM5926924 CHD9 c.6836G>A p.G2279E Substitution - Missense Skin COSM1701347 PHF2 c.1000G>A p.G334R Substitution - Missense Skin COSM51977 BAP1 c.588G>A p.W196* Substitution - Nonsense Eye COSM230703 KMT2D c.2242C>T p.P748S Substitution - Missense Skin COSM1663847 RBBP7 c.151G>A p.E51K Substitution - Missense Kidney COSM3657694 KIAA2026_ENST00000399933 c.4825A>T p.K1609* Substitution - Nonsense Skin COSM4964391 SRCAP c.2820G>A p.R940R Substitution - coding silent Pancreas COSM160547 DNMT1 c.3002G>T p.C1001F Substitution - Missense Breast COSM4839425 HDAC9 c.702A>C p.K234N Substitution - Missense Cervix COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM918662 ERCC6 c.2547A>C p.K849N Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM438023 AP001011.3_ENST00000320876 c.3774C>T p.L1258L Substitution - coding silent Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1695619 NIPBL c.6150C>G p.I2050M Substitution - Missense Skin COSM5407258 STK31 c.2820G>A p.Q940Q Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3740295 BRWD1 c.2071+2T>C p.? Unknown Liver COSM4954182 CBX6 c.477C>A p.I159I Substitution - coding silent Liver COSM4431752 TDRD6 c.3895A>C p.K1299Q Substitution - Missense Oesophagus COSM1447865 SND1 c.1577G>A p.R526H Substitution - Missense Large_intestine COSM5009137 MYST3 c.3116C>A p.S1039Y Substitution - Missense Large_intestine COSM4463843 HNF1A c.1308C>T p.I436I Substitution - coding silent Skin COSM2768778 SND1 c.1938C>T p.A646A Substitution - coding silent Large_intestine COSM4432423 SMC1A c.1935A>T p.L645L Substitution - coding silent Oesophagus COSM4383574 DNMT3A c.1344C>A p.Y448* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1681609 ASXL1 c.1773C>A p.Y591* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM740712 SHPRH c.366G>T p.Q122H Substitution - Missense Lung COSM3396079 BAZ2A_ENST00000379441 c.4579C>T p.R1527W Substitution - Missense Prostate COSM5835244 PHF3 c.2169_2170insA p.P726fs*14 Insertion - Frameshift Breast COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM3816129 TP53BP1 c.5451G>T p.L1817L Substitution - coding silent Breast COSM5901770 BAZ2A_ENST00000379441 c.2656C>T p.L886F Substitution - Missense Skin COSM4943430 KDM5C c.2733G>C p.L911L Substitution - coding silent Liver COSM219133 DNMT3A c.2245C>T p.R749C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM746383 STK31 c.1071G>T p.K357N Substitution - Missense Lung COSM4166140 TET2 c.3763_3764insT p.Y1255fs*13 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4574270 PRMT3 c.189A>G p.T63T Substitution - coding silent Bone COSM164496 SMYD4 c.612C>T p.L204L Substitution - coding silent Breast COSM1614666 DNMT3A c.2530A>G p.K844E Substitution - Missense Liver COSM5908013 SETDB1 c.1425-8C>T p.? Unknown Skin COSM352461 BAZ2A_ENST00000379441 c.395A>T p.Q132L Substitution - Missense Lung COSM6005632 EP300 c.5332G>T p.G1778W Substitution - Missense Prostate COSM3817961 CREBBP c.5063C>T p.T1688M Substitution - Missense Stomach COSM690893 KDM4D c.190G>A p.D64N Substitution - Missense Lung COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM39879 BRPF1 c.2355C>T p.H785H Substitution - coding silent Central_nervous_system COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85095 KMT2C c.6070G>C p.D2024H Substitution - Missense Pancreas COSM85097 KMT2C c.5919G>T p.V1973V Substitution - coding silent Pancreas COSM83884 ARID1A c.3826C>T p.R1276* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Pancreas COSM52980 EZH2 c.2069G>A p.R690H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM75467 MSL3 c.757C>T p.L253F Substitution - Missense Ovary COSM100078 TET2 c.2282_2282delC p.P761fs*52 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM221116 KMT2D c.13189+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Upper_aerodigestive_tract COSM216306 ZMYM1 c.1969G>T p.E657* Substitution - Nonsense Pancreas COSM220682 KMT2D c.10927C>T p.Q3643* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Prostate COSM291735 CREBBP c.5039_5041delCCT p.S1680delS Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM362758 MBD6 c.344G>A p.R115H Substitution - Missense Lung COSM380825 RAG2 c.1485A>T p.L495L Substitution - coding silent Lung COSM433034 BAZ1A c.2765T>A p.L922* Substitution - Nonsense Breast COSM458125 BRWD3 c.1489C>T p.R497W Substitution - Missense Breast COSM464704 RAD54L c.2163G>A p.Q721Q Substitution - coding silent Kidney COSM464441 HDAC1 c.921C>T p.N307N Substitution - coding silent Kidney COSM988851 MBD1 c.49C>T p.R17C Substitution - Missense Kidney COSM695537 AICDA c.391C>G p.R131G Substitution - Missense Lung COSM699670 SETD3 c.871G>A p.E291K Substitution - Missense Lung COSM723121 ASXL1 c.3343A>G p.S1115G Substitution - Missense Lung COSM1692148 SP140 c.382G>A p.E128K Substitution - Missense Skin COSM904642 LBR c.1174G>A p.G392R Substitution - Missense Endometrium COSM946197 RNF17 c.855T>C p.P285P Substitution - coding silent Endometrium COSM1039190 ZBTB38 c.7G>A p.V3I Substitution - Missense Urinary_tract COSM961497 MGA c.1484G>A p.R495Q Substitution - Missense Endometrium COSM1061349 KDM3B c.3149T>C p.F1050S Substitution - Missense Endometrium COSM970053 SETD1A c.5086C>T p.L1696L Substitution - coding silent Endometrium COSM1103007 TDRD7 c.1507A>G p.S503G Substitution - Missense Endometrium COSM1101448 EYA1 c.1594A>C p.I532L Substitution - Missense Endometrium COSM1197017 PHRF1 c.1724A>G p.N575S Substitution - Missense Lung COSM1211710 KDM1B c.1459G>A p.A487T Substitution - Missense Large_intestine COSM1321883 KMT2A c.3634G>C p.A1212P Substitution - Missense Ovary COSM1322066 KDM4D c.1289G>C p.S430T Substitution - Missense Ovary COSM1326281 DNMT3A c.226C>T p.P76S Substitution - Missense Ovary COSM1326773 PHF20 c.3015G>C p.Q1005H Substitution - Missense Ovary COSM1397350 TRIM28 c.1459C>T p.R487* Substitution - Nonsense Large_intestine COSM1387351 CHD3 c.1612delC p.R540fs*16 Deletion - Frameshift Large_intestine COSM1387351 CHD3 c.1612delC p.R540fs*16 Deletion - Frameshift Large_intestine COSM1424476 PHF7 c.261A>C p.K87N Substitution - Missense Large_intestine COSM1363776 CHD4 c.417G>T p.E139D Substitution - Missense Soft_tissue COSM1349794 BTAF1 c.1525T>C p.C509R Substitution - Missense Large_intestine COSM1614668 DNMT3A c.1816C>A p.Q606K Substitution - Missense Liver COSM1630570 ASXL3 c.910G>A p.D304N Substitution - Missense Liver COSM1682744 BRWD3 c.2173G>T p.D725Y Substitution - Missense Large_intestine COSM1718608 DIDO1 c.6046C>T p.P2016S Substitution - Missense Skin COSM2067869 ARID2 c.4444C>T p.Q1482* Substitution - Nonsense Stomach COSM2260308 MTF2 c.1779C>A p.S593S Substitution - coding silent Large_intestine COSM2874819 EYA1 c.1746C>T p.A582A Substitution - coding silent Skin COSM3189281 EZH1 c.1786G>A p.D596N Substitution - Missense Large_intestine COSM3254005 MLL5 c.5319G>A p.P1773P Substitution - coding silent Large_intestine COSM3255730 PHF14 c.539_540insA p.W183fs*20 Insertion - Frameshift Large_intestine COSM3304448 KMT2C c.2410C>G p.L804V Substitution - Missense Upper_aerodigestive_tract COSM3296124 MBD5 c.1248C>T p.H416H Substitution - coding silent Upper_aerodigestive_tract COSM3362398 CHD3 c.1138G>A p.D380N Substitution - Missense Kidney COSM3382540 KIAA2026_ENST00000399933 c.1646C>T p.P549L Substitution - Missense Pancreas COSM3396759 KIAA1045 c.998C>T p.S333F Substitution - Missense Prostate COSM3440907 TAF3 c.1173C>T p.I391I Substitution - coding silent Skin COSM3424941 HDAC8 c.1008T>G p.F336L Substitution - Missense Large_intestine COSM3472829 PRDM2 c.3186T>G p.S1062S Substitution - coding silent Skin COSM3547374 NCOA3 c.1078C>G p.R360G Substitution - Missense Skin COSM3656853 TAF1L c.2628G>A p.M876I Substitution - Missense Skin COSM3650711 EYA1 c.1426G>A p.D476N Substitution - Missense Skin COSM3728024 DNMT3B c.592G>C p.G198R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3730600 SP100 c.1858C>T p.R620* Substitution - Nonsense Stomach COSM3739656 KDM5A c.2776A>G p.I926V Substitution - Missense Liver COSM3791224 KMT2A c.5841C>T p.L1947L Substitution - coding silent Urinary_tract COSM3857248 PRDM1 c.2307C>T p.S769S Substitution - coding silent Stomach COSM3934087 VPS72 c.248G>A p.R83Q Substitution - Missense Large_intestine COSM3825232 SETD7 c.127G>A p.G43R Substitution - Missense Breast COSM3842891 BRD1 c.1786-2A>G p.? Unknown Breast COSM3841206 EYA2 c.267T>C p.P89P Substitution - coding silent Breast COSM3824742 MINA c.761T>C p.V254A Substitution - Missense Breast COSM3925538 NCOA2 c.3505C>T p.R1169C Substitution - Missense Bone COSM3880298 STK31 c.2277C>A p.G759G Substitution - coding silent Stomach COSM3968116 ATF7IP c.58G>A p.V20M Substitution - Missense Central_nervous_system COSM4021548 PRDM2 c.2411A>C p.K804T Substitution - Missense Stomach COSM4007328 ZMYM6 c.2085C>T p.P695P Substitution - coding silent Stomach COSM4043166 CBX5 c.88G>A p.V30M Substitution - Missense Stomach COSM4034230 GLYATL1 c.312C>T p.N104N Substitution - coding silent Stomach COSM3992786 ZBTB38 c.1486G>A p.V496I Substitution - Missense Kidney COSM4085894 BAZ2B c.782G>A p.S261N Substitution - Missense Stomach COSM4098974 NCOA5 c.629A>G p.K210R Substitution - Missense Stomach COSM4106097 MSL3 c.307C>T p.R103C Substitution - Missense Stomach COSM4100193 DIDO1 c.2540A>G p.H847R Substitution - Missense Stomach COSM4060213 SRCAP c.8908C>A p.P2970T Substitution - Missense Stomach COSM4068915 BPTF c.2637G>A p.A879A Substitution - coding silent Stomach COSM4072473 CXXC1 c.1088G>T p.R363M Substitution - Missense Stomach COSM4064274 SMYD4 c.431A>T p.K144M Substitution - Missense Stomach COSM4156642 FMR1 c.357A>C p.K119N Substitution - Missense Upper_aerodigestive_tract COSM4166144 TET2 c.5111_5112insA p.D1704fs*9 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4385376 KDM6A c.1859A>T p.N620I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4385238 EP300 c.899C>T p.P300L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4603241 KDM6B c.761_762insACCACC p.P264_L265insPP Insertion - In frame Upper_aerodigestive_tract COSM4494538 SETD1B c.997C>A p.R333S Substitution - Missense Skin COSM4424940 ASH2L c.1053C>T p.H351H Substitution - coding silent Oesophagus COSM4426416 ZMYM6 c.2146+2T>C p.? Unknown Oesophagus COSM4553421 SMYD1 c.58G>A p.G20S Substitution - Missense Liver COSM4433198 NCOA6 c.1676-4delT p.? Unknown Oesophagus COSM4504851 L3MBTL3 c.676C>T p.P226S Substitution - Missense Skin COSM4475407 TET2 c.1988C>T p.S663F Substitution - Missense Skin COSM4694045 KAT2B c.2409delC p.P805fs*25 Deletion - Frameshift Large_intestine COSM4622200 PHRF1 c.2154C>A p.G718G Substitution - coding silent Large_intestine COSM4764783 SP140 c.301G>A p.E101K Substitution - Missense Stomach COSM4801888 EP400 c.9135G>T p.T3045T Substitution - coding silent Liver COSM4787914 ZMYM2 c.1486C>A p.Q496K Substitution - Missense Liver COSM4805311 BRD7 c.1371T>G p.Y457* Substitution - Nonsense Liver COSM4888505 TET2 c.3947C>A p.P1316Q Substitution - Missense Upper_aerodigestive_tract COSM4928749 MGA c.8994G>A p.K2998K Substitution - coding silent Liver COSM4918907 ARID1B c.4589A>G p.N1530S Substitution - Missense Liver COSM4836626 SMARCA4 c.2460C>A p.Y820* Substitution - Nonsense Cervix COSM4856749 INOC1 c.2119G>T p.E707* Substitution - Nonsense Cervix COSM4842789 KDM4D c.672A>G p.E224E Substitution - coding silent Cervix COSM4824049 EP300 c.2221C>T p.Q741* Substitution - Nonsense Cervix COSM4825583 CHD7 c.3232C>T p.H1078Y Substitution - Missense Upper_aerodigestive_tract COSM4955759 RAD54L c.723G>A p.L241L Substitution - coding silent Liver COSM5000709 LBR c.461G>A p.S154N Substitution - Missense Pancreas COSM5019942 SETBP1 c.4000+10T>A p.? Unknown Soft_tissue COSM5091112 SETD5_ENST00000402198 c.1894C>T p.R632C Substitution - Missense Large_intestine COSM5068055 MGA c.5385T>A p.A1795A Substitution - coding silent Large_intestine COSM5046139 PRDM2 c.2017A>G p.T673A Substitution - Missense Oesophagus COSM5362004 CHD4 c.857C>T p.P286L Substitution - Missense Large_intestine COSM5377265 TRIM33 c.1537C>T p.Q513* Substitution - Nonsense Skin COSM5387938 SMCHD1 c.2589G>A p.W863* Substitution - Nonsense Skin COSM5371303 BTAF1 c.3718G>A p.E1240K Substitution - Missense Skin COSM5382221 BAZ1A c.2560C>T p.Q854* Substitution - Nonsense Skin COSM5508191 AKAP1 c.2406G>A p.V802V Substitution - coding silent Biliary_tract COSM5463498 SHPRH c.2661G>T p.K887N Substitution - Missense Large_intestine COSM5443959 KAT5 c.88C>T p.P30S Substitution - Missense Oesophagus COSM5722740 ASXL3 c.2525C>T p.S842L Substitution - Missense Skin COSM5582833 TP53BP1 c.3203C>T p.S1068F Substitution - Missense Skin COSM5694766 DNMT3A c.2174-2A>G p.? Unknown Soft_tissue COSM5707482 ADNP c.1529A>G p.H510R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5553760 SFMBT2 c.2303A>G p.E768G Substitution - Missense Prostate COSM5551859 SETD2 c.5311G>A p.D1771N Substitution - Missense Prostate COSM5782015 SETDB1 c.636T>G p.T212T Substitution - coding silent Breast COSM5801423 BRWD3 c.3845delG p.G1282fs*17 Deletion - Frameshift Breast COSM5803892 KDM1B c.751-3A>G p.? Unknown Liver COSM5945599 PHF6 c.709G>A p.A237T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5913422 KMT2D c.5209G>A p.E1737K Substitution - Missense Skin COSM5921679 DIDO1 c.3413C>T p.S1138F Substitution - Missense Skin COSM5908527 NSD1 c.1067C>T p.S356F Substitution - Missense Skin COSM5967206 BAP1 c.583_608del26 p.P195fs*39 Deletion - Frameshift Salivary_gland COSM5990312 TRIM66 c.3105A>G p.G1035G Substitution - coding silent Liver COSM5978540 SP100 c.1345+1G>A p.? Unknown Upper_aerodigestive_tract COSM5978968 NIPBL c.2245_2246insA p.N751fs*2 Insertion - Frameshift Upper_aerodigestive_tract COSM6000237 HDAC7 c.2816C>T p.P939L Substitution - Missense Prostate COSM6011462 GABRG1 c.1336T>G p.F446V Substitution - Missense Skin COSM6007716 ALKBH3 c.223G>A p.E75K Substitution - Missense Prostate COSM4166535 TET2 c.? p.G1735R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM51384 IDH1 c.? p.R132L Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Skin COSM4169423 ATRX c.? p.V1604M Substitution - Missense Skin COSM5657024 RNF134 c.86T>C p.V29A Substitution - Missense Soft_tissue COSM5136933 CREBBP c.3307C>T p.R1103* Substitution - Nonsense Skin COSM3707814 NCOA3 c.2137A>G p.I713V Substitution - Missense Liver COSM4672878 CLOCK c.2430G>C p.Q810H Substitution - Missense Large_intestine COSM292130 GLYR1 c.990C>T p.C330C Substitution - coding silent Biliary_tract COSM4653520 TCF20 c.2177A>G p.Q726R Substitution - Missense Large_intestine COSM4789020 MSH6 c.1235A>C p.K412T Substitution - Missense Liver COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM295171 PHF2 c.720C>T p.C240C Substitution - coding silent Large_intestine COSM3562432 PHF8 c.1828G>A p.E610K Substitution - Missense Stomach COSM52952 DNMT3A c.? p.E477* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM369578 BAZ2B c.1679A>G p.H560R Substitution - Missense Lung COSM3463521 BAZ2A c.5115C>G p.A1705A Substitution - coding silent Skin COSM1109605 KDM4C c.2356C>T p.R786* Substitution - Nonsense Skin COSM144511 TET2 c.3844_3845insTG p.G1282fs*82 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4582439 EP300 c.1139C>T p.T380I Substitution - Missense Bone COSM2949322 SETD5_ENST00000402198 c.4241A>G p.Y1414C Substitution - Missense Large_intestine COSM3685189 ACTB c.124-1G>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM426004 ARID1A c.1582C>T p.Q528* Substitution - Nonsense Breast COSM4648213 BRD4 c.883A>C p.T295P Substitution - Missense Large_intestine COSM4639546 CHD1 c.3083A>G p.D1028G Substitution - Missense Large_intestine COSM282695 MBD5 c.4183G>T p.G1395* Substitution - Nonsense Large_intestine COSM379629 SETBP1 c.664T>A p.W222R Substitution - Missense Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Skin COSM288587 ASH1L c.6945C>A p.H2315Q Substitution - Missense Large_intestine COSM2819157 PRDM15 c.371delG p.G124fs*32 Deletion - Frameshift Large_intestine COSM1108224 TAF1L c.3755G>A p.R1252Q Substitution - Missense Central_nervous_system COSM251411 ARID2 c.5174C>G p.S1725* Substitution - Nonsense Liver COSM3508235 GTF3C1 c.609G>A p.K203K Substitution - coding silent Skin COSM4939743 TBL1XR1 c.1072G>T p.D358Y Substitution - Missense Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Soft_tissue COSM3986975 KMT2D c.4878G>C p.K1626N Substitution - Missense Kidney COSM5728981 MORF4L2 c.266G>A p.G89D Substitution - Missense Skin COSM3508904 SRCAP c.4604C>T p.P1535L Substitution - Missense Skin COSM969928 SRCAP c.2541G>A p.K847K Substitution - coding silent Endometrium COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3733523 NCOR1 c.14G>T p.G5V Substitution - Missense Upper_aerodigestive_tract COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM427637 ERCC6 c.625G>C p.D209H Substitution - Missense Breast COSM307730 BAP1 c.283G>C p.A95P Substitution - Missense Kidney COSM4466982 LMNA c.1464C>T p.T488T Substitution - coding silent Skin COSM4387445 BAP1 c.1932_1948del17 p.N645fs*13 Deletion - Frameshift Eye COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5756586 HDAC3 c.547C>G p.L183V Substitution - Missense Large_intestine COSM85916 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4159839 PRDM9 c.2042C>G p.T681S Substitution - Missense Upper_aerodigestive_tract COSM3237280 KDM3B c.1008T>G p.D336E Substitution - Missense Upper_aerodigestive_tract COSM5347204 ARID1A c.?_?del? p.T2138fs*? Deletion - Frameshift Endometrium COSM43417 TET2 c.2746C>T p.Q916* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4479361 CHD3 c.2141C>T p.P714L Substitution - Missense Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Large_intestine COSM4372728 EHMT1 c.3265G>A p.V1089I Substitution - Missense Large_intestine COSM4399770 TAF1 c.3182G>A p.R1061H Substitution - Missense Skin COSM486471 MYST3 c.3449A>C p.K1150T Substitution - Missense Kidney COSM1239175 JARID2 c.1266delG p.R425fs*36 Deletion - Frameshift Prostate COSM3396185 BRDT c.1112C>T p.T371M Substitution - Missense Central_nervous_system COSM51471 ARID1A c.214G>T p.E72* Substitution - Nonsense Ovary COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Prostate COSM1239541 KAT6B c.235C>T p.R79C Substitution - Missense Oesophagus COSM4615862 HDGF c.165-1_165insAC p.A56fs*100 Unknown Large_intestine COSM4728438 SMCHD1 c.2612G>A p.R871Q Substitution - Missense Large_intestine COSM1290642 SMYD4 c.676G>C p.E226Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM907729 ARID1A c.4760_4772delGCCCTGCTCCCCT p.A1589fs*19 Deletion - Frameshift Endometrium COSM133579 ASXL1 c.2095_2096insGC p.P699fs*5 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4833968 ASH2L c.1152C>G p.A384A Substitution - coding silent Cervix COSM4695062 JMJD5 c.203G>A p.S68N Substitution - Missense Large_intestine COSM4802046 MBD3 c.646A>G p.K216E Substitution - Missense Liver COSM325375 FTO c.346G>T p.V116F Substitution - Missense Lung COSM1423646 DHX30 c.2638G>A p.D880N Substitution - Missense Large_intestine COSM4752023 SRCAP c.2499G>C p.L833F Substitution - Missense Stomach COSM5886300 SETD5_ENST00000402198 c.329+8C>T p.? Unknown Skin COSM1441798 JARID2 c.2399A>G p.E800G Substitution - Missense Large_intestine COSM4589448 HDAC6 c.3051G>A p.E1017E Substitution - coding silent Bone COSM1629525 BAHD1 c.1873A>G p.T625A Substitution - Missense Liver COSM3900870 CHD7 c.4644+1G>A p.? Unknown Stomach COSM1365484 ING1 c.763A>T p.K255* Substitution - Nonsense Large_intestine COSM1028976 DIDO1 c.4101C>T p.F1367F Substitution - coding silent Endometrium COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1168028 TET2 c.2191C>T p.Q731* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4120723 BRPF1 c.319G>A p.V107I Substitution - Missense Stomach COSM4277292 DNMT1 c.996-8T>C p.? Unknown Skin COSM1623349 TRRAP c.1536A>C p.P512P Substitution - coding silent Liver COSM3858043 NCOA7 c.997C>T p.R333* Substitution - Nonsense Stomach COSM4144076 ORC1 c.2399G>T p.S800I Substitution - Missense Thyroid COSM1026879 CHD6 c.2372T>G p.L791R Substitution - Missense Endometrium COSM4842010 KMT2C c.6074C>G p.S2025* Substitution - Nonsense Cervix COSM3664280 SMARCA2 c.657G>A p.Q219Q Substitution - coding silent Liver COSM1626232 ATRX c.3027_3028insAT p.E1010fs*24 Insertion - Frameshift Central_nervous_system COSM4170141 TET2 c.3480_3481insA p.R1161fs*13 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5034589 C20orf20 c.549C>T p.T183T Substitution - coding silent Oesophagus COSM979859 HDAC5 c.2330C>T p.A777V Substitution - Missense Endometrium COSM5745442 CHD6 c.5963C>T p.P1988L Substitution - Missense Pancreas COSM1716184 EZH2 c.? p.A682G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41991 TET2 c.5695_5695delC p.L1899fs*9 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4384734 KMT2D c.5141C>T p.P1714L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM710261 DNMT1 c.1145C>G p.T382R Substitution - Missense Lung COSM5715695 SETD2 c.5092G>C p.A1698P Substitution - Missense Skin COSM4018298 KMT2A c.3708C>T p.N1236N Substitution - coding silent Stomach COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1737978 BAP1 c.? p.D68G Substitution - Missense Eye COSM5779959 CBX4 c.1486G>C p.E496Q Substitution - Missense Breast COSM258737 BRWD3 c.3751C>G p.L1251V Substitution - Missense Large_intestine COSM1670990 GABRG1 c.711G>C p.Q237H Substitution - Missense Large_intestine COSM3434285 TDRD1 c.309G>A p.R103R Substitution - coding silent Skin COSM488203 RBBP7 c.963+2T>C p.? Unknown Kidney COSM356743 EP400 c.8223G>A p.Q2741Q Substitution - coding silent Large_intestine COSM4400036 TDRD1 c.1628C>T p.A543V Substitution - Missense Skin COSM2080385 ZMYM4 c.4309+4C>T p.? Unknown Biliary_tract COSM1716796 TET2 c.? p.Y380fs*46 Frameshift Haematopoietic_and_lymphoid_tissue COSM4040294 EP400 c.8046C>T p.N2682N Substitution - coding silent Stomach COSM88107 CHD7 c.2498+1G>A p.? Unknown Central_nervous_system COSM1181008 CHD1 c.629delA p.K210fs*39 Deletion - Frameshift Large_intestine COSM1606228 SMARCD1 c.225G>A p.Q75Q Substitution - coding silent Liver COSM141380 SMARCD1 c.631G>A p.G211R Substitution - Missense Upper_aerodigestive_tract COSM5495616 PWWP2B c.124A>T p.K42* Substitution - Nonsense Biliary_tract COSM5894938 KMT2A c.3570-5C>T p.? Unknown Skin COSM3705073 LMNA c.672C>T p.T224T Substitution - coding silent Liver COSM261422 ING2 c.202G>A p.E68K Substitution - Missense Central_nervous_system COSM2948460 KAT2B c.1964C>T p.P655L Substitution - Missense Stomach COSM4933823 CHD2 c.1354A>G p.T452A Substitution - Missense Liver COSM3358558 PBRM1 c.811_813delAAG p.K271delK Deletion - In frame Kidney COSM4210572 CHD4 c.3313C>T p.R1105W Substitution - Missense Prostate COSM4928834 KDM4C c.1043C>T p.P348L Substitution - Missense Liver COSM1184954 BRPF3 c.16C>T p.R6W Substitution - Missense Large_intestine COSM97137 PRDM1 c.183G>C p.E61fs Unknown Haematopoietic_and_lymphoid_tissue COSM3922302 ACTL6B c.890A>G p.E297G Substitution - Missense Skin COSM1220356 PHF2 c.1498C>A p.P500T Substitution - Missense Stomach COSM1629913 BRD7 c.1365T>G p.Y455* Substitution - Nonsense Liver COSM4991355 ASXL1 c.24G>A p.K8K Substitution - coding silent Skin COSM5790396 CHD8 c.3605G>A p.R1202H Substitution - Missense Breast COSM5025451 TDRD5 c.1497C>T p.L499L Substitution - coding silent Breast COSM985382 KDM6B c.2253_2258delCACCAC p.T761_T762delTT Deletion - In frame Oesophagus COSM3401520 SMEK1 c.687T>C p.A229A Substitution - coding silent Central_nervous_system COSM96471 CREBBP c.6938C>T p.P2313L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4437308 CBX8 c.878A>C p.E293A Substitution - Missense Oesophagus COSM88785 EP300 c.5711A>C p.Q1904P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1644335 ARID1A c.5541_5542insG p.D1850fs*4 Insertion - Frameshift Breast COSM2813365 CARM1 c.1343A>G p.Y448C Substitution - Missense Large_intestine COSM1308833 TBL1XR1 c.1087C>G p.L363V Substitution - Missense Urinary_tract COSM1083 SMARCB1 c.?_?del? p.?del Deletion - In frame Central_nervous_system COSM4046674 RNF17 c.1179A>G p.L393L Substitution - coding silent Stomach COSM5607834 ARID1A c.2032C>T p.Q678* Substitution - Nonsense Skin COSM4656857 HDAC7 c.1826C>A p.A609E Substitution - Missense Large_intestine COSM382743 MEAF6 c.278C>T p.S93L Substitution - Missense Prostate COSM342699 DNMT3L c.1021G>C p.E341Q Substitution - Missense Lung COSM487508 KDM4C c.492A>G p.E164E Substitution - coding silent Kidney COSM4720574 RBBP5 c.1096+2T>C p.? Unknown Large_intestine COSM3522205 ZBTB4 c.2844C>T p.L948L Substitution - coding silent Skin COSM3381383 PRDM13 c.1529C>A p.A510D Substitution - Missense Pancreas COSM1377528 SETD1A c.1926_1927insC p.E645fs*1 Insertion - Frameshift Large_intestine COSM1454644 ATAD2 c.4023T>A p.V1341V Substitution - coding silent Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM483940 DAXX c.1370A>T p.E457V Substitution - Missense Kidney COSM133022 ARID1A c.4893_4894insC p.M1634fs*14 Insertion - Frameshift Central_nervous_system COSM3463378 SMARCC2 c.2376G>A p.E792E Substitution - coding silent Skin COSM3414471 SETD7 c.997G>A p.V333I Substitution - Missense Oesophagus COSM4448362 UHRF1 c.302_303CC>TT p.S101F Substitution - Missense Skin COSM434995 GTF3C1 c.5000_5009del10 p.S1667fs*6 Deletion - Frameshift Breast COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716801 TET2 c.? p.P1889L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM29855 SMARCB1 c.?_?del? p.? Unknown Soft_tissue COSM3829236 SHPRH c.528G>A p.L176L Substitution - coding silent Breast COSM479985 KAT2B c.1029C>T p.L343L Substitution - coding silent Kidney COSM1039201 ZBTB38 c.1852T>C p.F618L Substitution - Missense Endometrium COSM328978 KMT2C c.8390delA p.K2797fs*26 Deletion - Frameshift Breast COSM255263 MYST3 c.2981C>T p.P994L Substitution - Missense Large_intestine COSM1733440 LMNA c.356+2T>C p.? Unknown Pancreas COSM4578633 CHD2 c.907G>A p.G303S Substitution - Missense Bone COSM4163285 PHF19 c.407A>C p.D136A Substitution - Missense Upper_aerodigestive_tract COSM447090 SETD5_ENST00000402198 c.2198C>A p.A733E Substitution - Missense Breast COSM457984 TAF1 c.1312C>T p.P438S Substitution - Missense Breast COSM4721053 RERE c.894T>C p.D298D Substitution - coding silent Large_intestine COSM5006566 PBRM1 c.?_?del? p.?fs*? Deletion - Frameshift Kidney COSM4411946 KDM6A c.? p.Q635* Substitution - Nonsense Urinary_tract COSM1169594 PBRM1 c.3255_3255delT p.F1085fs*74 Deletion - Frameshift Kidney COSM3769695 SMARCD1 c.649G>T p.V217L Substitution - Missense Soft_tissue COSM5571025 SETD2 c.5600T>C p.V1867A Substitution - Missense Prostate COSM1307798 BRWD1 c.1706G>A p.R569K Substitution - Missense Urinary_tract COSM5132983 INOC1 c.3419G>T p.R1140M Substitution - Missense Small_intestine COSM1583133 DNMT3A c.2710C>G p.P904A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1717684 YY1 c.1115C>G p.T372R Substitution - Missense Adrenal_gland COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM5949666 ARID1A c.5941T>C p.C1981R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM583933 DHX30 c.281C>T p.P94L Substitution - Missense Skin COSM683248 TDRD1 c.2547G>C p.Q849H Substitution - Missense Lung COSM1677488 EP400 c.3301G>A p.E1101K Substitution - Missense Skin COSM1426203 TET2 c.80C>T p.T27I Substitution - Missense Large_intestine COSM5573647 DOT1L c.5198C>T p.S1733L Substitution - Missense Prostate COSM149088 SP110 c.619G>A p.E207K Substitution - Missense Stomach COSM3620800 EYA4 c.872G>A p.G291E Substitution - Missense Skin COSM420406 KDM3B c.4693G>C p.D1565H Substitution - Missense Urinary_tract COSM5021054 KDM5C c.2292G>A p.K764K Substitution - coding silent Soft_tissue COSM1587015 ZMYM2 c.3691A>G p.T1231A Substitution - Missense Endometrium COSM486559 CHD7 c.2460G>T p.E820D Substitution - Missense Kidney COSM4038172 HCFC2 c.1744G>A p.E582K Substitution - Missense Stomach COSM4788302 KMT2C c.11237G>T p.G3746V Substitution - Missense Liver COSM4418709 NSD1 c.2176T>C p.S726P Substitution - Missense Soft_tissue COSM3704900 PRDM2 c.1681A>T p.N561Y Substitution - Missense Liver COSM4393630 ZCWPW1 c.388G>C p.E130Q Substitution - Missense Prostate COSM87002 DNMT3A c.1627G>T p.G543C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5936198 CREBBP c.4295C>T p.S1432F Substitution - Missense Skin COSM5985615 PBRM1 c.? p.D762H Substitution - Missense Salivary_gland COSM97131 IDH1 c.532G>A p.V178I Substitution - Missense Thyroid COSM3671359 TTF2 c.2237G>A p.R746Q Substitution - Missense Prostate COSM1294090 ZBTB38 c.2554C>G p.H852D Substitution - Missense Cervix COSM337161 NSD1 c.2105C>A p.P702H Substitution - Missense Large_intestine COSM5963350 ASH1L c.5270G>A p.R1757Q Substitution - Missense Breast COSM4072474 CXXC1 c.803A>G p.E268G Substitution - Missense Stomach COSM5823425 CHD4 c.2046A>T p.E682D Substitution - Missense Liver COSM1477119 ZMYM2 c.3143G>A p.R1048K Substitution - Missense Breast COSM4098295 ACTR5 c.421C>T p.P141S Substitution - Missense Stomach COSM4801224 CREBBP c.681T>A p.P227P Substitution - coding silent Liver COSM3296128 MBD5 c.1326C>A p.P442P Substitution - coding silent Upper_aerodigestive_tract COSM2834908 CHD9 c.5779C>T p.R1927C Substitution - Missense Large_intestine COSM252395 ATAT1 c.847C>T p.R283C Substitution - Missense Ovary COSM468921 APOBEC1 c.686T>C p.I229T Substitution - Missense Kidney COSM4548937 INO80B c.421G>A p.D141N Substitution - Missense Skin COSM4430904 SIRT3 c.176A>C p.E59A Substitution - Missense Oesophagus COSM110774 TET2 c.3546_3547insC p.T1183fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3080638 ACTL6B c.138G>A p.A46A Substitution - coding silent Large_intestine COSM5586869 TRRAP c.198C>T p.I66I Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5427613 PRDM9 c.2284C>T p.H762Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4609453 TAF1L c.5362G>T p.A1788S Substitution - Missense Adrenal_gland COSM5518770 TRRAP c.1547C>T p.A516V Substitution - Missense Biliary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3874523 TDRD6 c.2202T>G p.T734T Substitution - coding silent Stomach COSM204002 EP400 c.2989G>A p.D997N Substitution - Missense Large_intestine COSM1604163 KMT2A c.3216C>T p.C1072C Substitution - coding silent Liver COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5263529 SMYD1 c.24C>A p.N8K Substitution - Missense Soft_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4454834 L3MBTL3 c.590A>T p.K197I Substitution - Missense Skin COSM3983237 BAZ1A c.3265C>G p.Q1089E Substitution - Missense Ovary COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1251238 EP400 c.4162C>T p.R1388C Substitution - Missense Oesophagus COSM1291259 PHF21B c.1569C>T p.T523T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5647051 RAI1 c.1701A>T p.K567N Substitution - Missense Oesophagus COSM4387454 BAP1 c.438-2A>G p.? Unknown Eye COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1675891 PRMT3 c.275T>C p.L92P Substitution - Missense Large_intestine COSM4384872 CREBBP c.1594C>A p.P532T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5018595 NIPBL c.1662delG p.A555fs*3 Deletion - Frameshift Soft_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1659156 MEN1 c.496C>T p.Q166* Substitution - Nonsense Pancreas COSM4539978 BRD8 c.2548G>A p.G850S Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3669244 SETD7 c.1045G>A p.A349T Substitution - Missense Liver COSM5599298 CHD6 c.7853C>T p.S2618F Substitution - Missense Skin COSM162501 KMT2D c.9636G>T p.R3212R Substitution - coding silent Breast COSM744289 MLL5 c.4508C>T p.A1503V Substitution - Missense Lung COSM4470498 INOC1 c.1664C>T p.A555V Substitution - Missense Skin COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM1416502 L3MBTL2 c.1089C>T p.D363D Substitution - coding silent Large_intestine COSM4157418 MECOM c.744T>G p.G248G Substitution - coding silent Thyroid COSM4427483 PRDM9 c.653C>A p.A218D Substitution - Missense Oesophagus COSM4407853 PRDM15 c.126G>T p.P42P Substitution - coding silent Pancreas COSM465839 JMJD1C c.5866G>A p.V1956M Substitution - Missense Kidney COSM3509566 CREBBP c.1246A>G p.I416V Substitution - Missense Skin COSM1166762 TET2 c.3593delG p.V1199fs*27 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2235515 ARID1A c.4170C>T p.S1390S Substitution - coding silent Large_intestine COSM4584132 FXR1 c.1062T>C p.H354H Substitution - coding silent Bone COSM1378355 FTO c.964C>T p.R322* Substitution - Nonsense Large_intestine COSM4129611 NCOR1 c.447C>T p.F149F Substitution - coding silent Upper_aerodigestive_tract COSM941718 BAZ2A_ENST00000379441 c.5664C>T p.R1888R Substitution - coding silent Endometrium COSM4169566 MSH6 c.? p.G864E Substitution - Missense Central_nervous_system COSM4121127 TET2 c.1310A>G p.Y437C Substitution - Missense Stomach COSM4411453 BAP1 c.1557delC p.S520fs*51 Deletion - Frameshift Kidney COSM145999 TDRD1 c.195C>A p.N65K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3830717 CDYL c.1085C>T p.S362L Substitution - Missense Breast COSM5718015 BRD4 c.613C>T p.P205S Substitution - Missense Skin COSM1334645 ASH1L c.8014C>T p.R2672C Substitution - Missense Large_intestine COSM148078 CHD9 c.5406G>A p.Q1802Q Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1303975 SMARCA4 c.2427C>T p.I809I Substitution - coding silent Urinary_tract COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13384 MSH6 c.1170T>C p.D390D Substitution - coding silent Urinary_tract COSM25335 DNMT3B c.813+5G>A p.? Unknown Lung COSM29495 SMARCB1 c.1145delC p.P383fs*4 Deletion - Frameshift Central_nervous_system COSM36205 ASXL1 c.3306G>T p.E1102D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43443 TET2 c.5060_5061delAG p.S1688fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Pancreas COSM52997 EZH2 c.1728C>G p.C576W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53094 DNMT3A c.2168_2168delT p.L723fs*56 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM53218 ASXL1 c.4364_4364delA p.N1455fs*20 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM49150 EZH2 c.2020T>G p.L674V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM107494 TRRAP c.2165C>T p.S722F Substitution - Missense Skin COSM88683 TAF1 c.4523C>T p.S1508F Substitution - Missense Ovary COSM110733 BAP1 c.172_179delTCCCGGCG p.S58fs*8 Deletion - Frameshift Eye COSM87130 TET2 c.3781C>T p.R1261C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM211691 TET2 c.2438_2439insAA p.N813fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM212167 ZMYM1 c.3046T>G p.F1016V Substitution - Missense Breast COSM230693 KDM5A c.3781C>T p.R1261W Substitution - Missense Biliary_tract COSM240684 KMT2D c.9830G>A p.R3277H Substitution - Missense Breast COSM269426 KDM5A c.3766T>C p.W1256R Substitution - Missense Large_intestine COSM252960 BRD1 c.77delC p.P26fs*6 Deletion - Frameshift Ovary COSM251401 ARID1A c.1210C>T p.Q404* Substitution - Nonsense Liver COSM262036 MLL5 c.1014G>T p.K338N Substitution - Missense Large_intestine COSM278223 ZMYM5 c.396G>T p.E132D Substitution - Missense Large_intestine COSM291464 DUSP1 c.854T>A p.F285Y Substitution - Missense Large_intestine COSM347557 CHD9 c.5077G>A p.E1693K Substitution - Missense Lung COSM357178 TAF3 c.1604A>G p.K535R Substitution - Missense Lung COSM377128 PRDM10 c.367C>G p.L123V Substitution - Missense Lung COSM403500 HDAC6 c.1381G>A p.E461K Substitution - Missense Lung COSM423037 BAP1 c.2051delA p.Q684fs*8 Deletion - Frameshift Kidney COSM430522 HNF1A c.79A>C p.I27L Substitution - Missense Liver COSM460130 RERE c.3517G>A p.E1173K Substitution - Missense Cervix COSM980856 MYST2 c.1198C>G p.R400G Substitution - Missense Endometrium COSM488466 KDM5C c.865A>T p.K289* Substitution - Nonsense Kidney COSM1651571 EP300 c.6970_6971insC p.H2324fs*55 Insertion - Frameshift Large_intestine COSM676381 HDGF c.526G>A p.E176K Substitution - Missense Lung COSM686167 KMT2A c.5745C>A p.D1915E Substitution - Missense Lung COSM1049787 INTS12 c.791G>T p.R264I Substitution - Missense Endometrium COSM1019132 NCOA1 c.1018G>A p.A340T Substitution - Missense Endometrium COSM709519 SETBP1 c.2848G>A p.D950N Substitution - Missense Lung COSM738285 PRDM9 c.505C>A p.L169M Substitution - Missense Lung COSM912523 RERE c.1760G>T p.G587V Substitution - Missense Endometrium COSM1067693 NIPBL c.5273G>A p.R1758Q Substitution - Missense Endometrium COSM1039209 ZBTB38 c.3334C>A p.H1112N Substitution - Missense Endometrium COSM971409 CHD9 c.781T>C p.S261P Substitution - Missense Endometrium COSM4897672 JMJD1C c.3115A>G p.K1039E Substitution - Missense Skin COSM1101407 NCOA2 c.3782G>A p.R1261Q Substitution - Missense Skin COSM1228830 TDRD5 c.1614G>T p.E538D Substitution - Missense Large_intestine COSM1239928 PRDM8 c.621C>T p.G207G Substitution - coding silent Prostate COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1295177 ASH1L c.3439C>T p.Q1147* Substitution - Nonsense Urinary_tract COSM1327392 PRDM15 c.4374G>T p.G1458G Substitution - coding silent Ovary COSM1415163 SMARCB1 c.197C>T p.S66L Substitution - Missense Large_intestine COSM1407054 NCOA1 c.3987G>T p.Q1329H Substitution - Missense Large_intestine COSM1424677 ACTR8 c.1828C>T p.R610C Substitution - Missense Large_intestine COSM1439493 PRDM1 c.227G>A p.R76H Substitution - Missense Large_intestine COSM1442454 HDGFL1 c.408G>A p.K136K Substitution - coding silent Large_intestine COSM1461691 SMARCA2 c.683A>C p.Q228P Substitution - Missense Upper_aerodigestive_tract COSM1457684 CHD7 c.73G>A p.G25R Substitution - Missense Large_intestine COSM1608857 CHD2 c.1419A>T p.Q473H Substitution - Missense Liver COSM1475830 SUV420H1 c.577A>T p.S193C Substitution - Missense Breast COSM1476600 KMT2D c.10904A>T p.Q3635L Substitution - Missense Breast COSM1583424 SETDB1 c.3609C>T p.G1203G Substitution - coding silent Stomach COSM1625943 HDAC6 c.1974C>A p.H658Q Substitution - Missense Liver COSM1625903 KDM6A c.963G>A p.W321* Substitution - Nonsense Breast COSM1642354 BRPF1 c.1835delA p.K613fs*18 Deletion - Frameshift Stomach COSM1658762 IDH2 c.1054A>C p.T352P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1694316 GABRG1 c.124G>A p.E42K Substitution - Missense Skin COSM1709088 SETD1A c.1046C>T p.S349L Substitution - Missense Skin COSM1723061 DIDO1 c.4927_4928insC p.R1643fs*37 Insertion - Frameshift Large_intestine COSM1660729 BAP1 c.152A>T p.K51I Substitution - Missense Kidney COSM1716237 ATRX c.2971G>A p.E991K Substitution - Missense Central_nervous_system COSM1743479 HDAC9 c.81G>A p.R27R Substitution - coding silent Biliary_tract COSM1749721 PRMT7 c.1368G>C p.E456D Substitution - Missense Urinary_tract COSM1756081 EHMT1 c.1980C>T p.H660H Substitution - coding silent Urinary_tract COSM1747977 TDRD5 c.1172C>T p.P391L Substitution - Missense Urinary_tract COSM1733305 ATF7IP c.1858G>A p.A620T Substitution - Missense Pancreas COSM2155668 BAZ2B c.5123A>G p.K1708R Substitution - Missense Central_nervous_system COSM2153718 BRD1 c.177C>T p.I59I Substitution - coding silent Central_nervous_system COSM2797788 BPTF c.5053C>T p.R1685* Substitution - Nonsense Biliary_tract COSM2828798 SETD5_ENST00000402198 c.1853G>A p.R618Q Substitution - Missense Breast COSM2848372 GABRG1 c.1157C>A p.S386Y Substitution - Missense Liver COSM2911762 DNMT3A c.2096delG p.G699fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3089657 EHMT1 c.1617G>A p.P539P Substitution - coding silent Large_intestine COSM3176010 PHIP c.721G>A p.A241T Substitution - Missense Large_intestine COSM3304426 KMT2C c.2529A>G p.K843K Substitution - coding silent Central_nervous_system COSM3296117 MBD5 c.1120G>A p.V374I Substitution - Missense Upper_aerodigestive_tract COSM3322586 PHF19 c.1523C>A p.S508* Substitution - Nonsense Large_intestine COSM3358502 PBRM1 c.3309_3310insG p.A1104fs*3 Insertion - Frameshift Kidney COSM3376717 POGZ c.3653C>G p.A1218G Substitution - Missense Pancreas COSM3388569 SMARCA4 c.3922C>T p.R1308W Substitution - Missense Pancreas COSM3508237 GTF3C1 c.309C>T p.I103I Substitution - coding silent Skin COSM3434287 TDRD1 c.533C>T p.S178L Substitution - Missense Skin COSM3455599 PRDM4 c.2239C>A p.R747S Substitution - Missense Skin COSM3589862 MECOM c.1832G>A p.G611E Substitution - Missense Skin COSM3589864 MECOM c.1756G>A p.D586N Substitution - Missense Skin COSM3589899 MECOM c.490G>A p.E164K Substitution - Missense Skin COSM3562339 SMC1A c.1145C>G p.A382G Substitution - Missense Skin COSM3517752 EZH1 c.1096C>T p.H366Y Substitution - Missense Skin COSM3521212 BPTF c.5497C>T p.R1833* Substitution - Nonsense Skin COSM3697227 NIPBL c.6956G>A p.C2319Y Substitution - Missense Large_intestine COSM3674065 BRPF1 c.2074C>A p.R692S Substitution - Missense Prostate COSM3752794 TRIM66 c.434G>A p.R145K Substitution - Missense Large_intestine COSM3762397 TRIM24 c.2589A>G p.G863G Substitution - coding silent Soft_tissue COSM3794140 INOC1 c.67C>T p.Q23* Substitution - Nonsense Urinary_tract COSM3809731 PHRF1 c.4018A>C p.T1340P Substitution - Missense Breast COSM3864841 KDM1A c.1021C>T p.R341C Substitution - Missense Skin COSM3838816 SP100 c.2378G>A p.G793D Substitution - Missense Breast COSM3882235 BAZ1B c.2606G>A p.R869H Substitution - Missense Stomach COSM3968118 ATF7IP c.3258T>C p.V1086V Substitution - coding silent Central_nervous_system COSM4045980 ING1 c.485C>T p.A162V Substitution - Missense Stomach COSM3989883 DOT1L c.3674C>T p.A1225V Substitution - Missense Kidney COSM4104946 BRD1 c.439G>A p.A147T Substitution - Missense Stomach COSM4060390 MYST1 c.431G>A p.R144H Substitution - Missense Stomach COSM4074005 CARM1 c.1819G>A p.G607R Substitution - Missense Stomach COSM4055775 PYGO1 c.57T>C p.D19D Substitution - coding silent Stomach COSM4129608 NCOR1 c.571G>A p.E191K Substitution - Missense Upper_aerodigestive_tract COSM4152834 KMT2D c.12971C>G p.A4324G Substitution - Missense Kidney COSM4405311 SETMAR c.59A>C p.K20T Substitution - Missense Skin COSM4403458 SRCAP c.6128-1G>A p.? Unknown Skin COSM4599952 TDRD10 c.35A>C p.D12A Substitution - Missense Upper_aerodigestive_tract COSM4526985 CTCF c.1432G>A p.E478K Substitution - Missense Skin COSM4431627 YY1 c.111G>C p.E37D Substitution - Missense Oesophagus COSM4501602 TDG c.593C>A p.P198H Substitution - Missense Skin COSM4493339 SMARCA2 c.4139C>T p.P1380L Substitution - Missense Skin COSM4499634 CHD9 c.5470C>T p.L1824F Substitution - Missense Skin COSM4536586 PRDM9 c.2317G>A p.E773K Substitution - Missense Skin COSM4553421 SMYD1 c.58G>A p.G20S Substitution - Missense Skin COSM4571930 KMT2D c.5076T>C p.F1692F Substitution - coding silent Skin COSM4717483 PRDM15 c.1046G>A p.S349N Substitution - Missense Large_intestine COSM4729937 SRCAP c.4177G>A p.A1393T Substitution - Missense Large_intestine COSM4728341 SMARCC2 c.2248C>T p.R750W Substitution - Missense Large_intestine COSM4768304 SETD1A c.141C>T p.F47F Substitution - coding silent Biliary_tract COSM4645925 CDYL2 c.6T>G p.A2A Substitution - coding silent Large_intestine COSM4771553 MSH6 c.1811A>G p.E604G Substitution - Missense Breast COSM4746443 BRD9 c.38delT p.F13fs*47 Deletion - Frameshift Large_intestine COSM4798976 CREBBP c.4213G>C p.V1405L Substitution - Missense Liver COSM4778554 LBR c.1477C>A p.L493M Substitution - Missense Liver COSM4911839 KIAA2026_ENST00000399933 c.3393T>C p.G1131G Substitution - coding silent Liver COSM4951278 ARID1A c.320_329del10 p.A107fs*4 Deletion - Frameshift Liver COSM4984989 HNF1A c.1460G>A p.S487N Substitution - Missense Thymus COSM4976891 GTF3C1 c.3150A>T p.L1050L Substitution - coding silent Oesophagus COSM4976384 BRWD3 c.627A>C p.T209T Substitution - coding silent Oesophagus COSM5056326 MBD3 c.486_487insC p.K163fs*13 Insertion - Frameshift Stomach COSM5165179 EHMT2 c.2917-7G>A p.? Unknown Large_intestine COSM5377587 VPS72 c.770C>T p.P257L Substitution - Missense Skin COSM5388376 L3MBTL4 c.810C>T p.S270S Substitution - coding silent Skin COSM5490691 BAP1 c.544G>T p.E182* Substitution - Nonsense Biliary_tract COSM5500904 ZMYM4 c.2342C>A p.T781K Substitution - Missense Biliary_tract COSM5428734 SMEK2 c.1000G>T p.V334F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5440590 TDRD3 c.184G>A p.E62K Substitution - Missense Oesophagus COSM5644956 KMT2D c.12243_12244insT p.E4082fs*1 Insertion - Frameshift Oesophagus COSM5722579 RAI1 c.292C>T p.P98S Substitution - Missense Skin COSM5729433 SMARCA2 c.4199+1G>A p.? Unknown Skin COSM5753171 JARID2 c.2766C>G p.V922V Substitution - coding silent Pancreas COSM5712782 NCOR1 c.84A>G p.T28T Substitution - coding silent Central_nervous_system COSM5566349 BAZ2A c.1802G>A p.R601H Substitution - Missense Prostate COSM5776787 SFMBT2 c.2415+10G>A p.? Unknown Breast COSM5791904 ATRX c.1957C>T p.L653F Substitution - Missense Breast COSM5833524 MBD1 c.1510delG p.D504fs*13 Deletion - Frameshift Breast COSM5937563 KMT2D c.3937C>T p.R1313C Substitution - Missense Skin COSM5920440 KDM5A c.4354G>A p.E1452K Substitution - Missense Skin COSM5930356 AP001011.3_ENST00000320876 c.2866G>A p.E956K Substitution - Missense Skin COSM41901 TET2 c.? p.R1216* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM166348 DNMT3A c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5880326 ATRX c.? p.H2254R Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41163 TET2 c.4010_4025del16 p.Y1337fs*21 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41998 TET2 c.1955_1955delA p.Q652fs*48 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1666672 SETBP1 c.? p.E858K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM144553 DNMT3A c.? p.N501S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM1666858 ARID1A c.? p.W337* Substitution - Nonsense Lung COSM905717 KDM1A c.1926C>T p.C642C Substitution - coding silent Large_intestine COSM3582350 SMEK2 c.58G>C p.D20H Substitution - Missense Skin COSM3547823 PCNA c.310G>A p.E104K Substitution - Missense Skin COSM4610746 KMT2C c.2680C>T p.R894W Substitution - Missense Skin COSM1740355 NCOR1 c.5164A>C p.K1722Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM381598 HDAC9 c.2866G>T p.E956* Substitution - Nonsense Lung COSM99737 KDM6A c.2765G>A p.R922K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5634461 JMJD1C c.5841A>G p.E1947E Substitution - coding silent Oesophagus COSM1333459 PRDM2 c.4270delA p.N1426fs*3 Deletion - Frameshift Large_intestine COSM4169399 IDH2 c.? p.G144R Substitution - Missense Skin COSM3413102 PRDM14 c.1565G>T p.C522F Substitution - Missense Central_nervous_system COSM4076480 LMNB2 c.1335C>T p.A445A Substitution - coding silent Stomach COSM3777253 JARID2 c.461C>T p.T154I Substitution - Missense Urinary_tract COSM4702451 KMT2D c.912delA p.K304fs*30 Deletion - Frameshift Large_intestine COSM5072187 SMARCC2 c.723G>A p.W241* Substitution - Nonsense Large_intestine COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Central_nervous_system COSM1483545 DNMT3B c.687G>A p.V229V Substitution - coding silent Breast COSM3440910 TAF3 c.1531G>C p.E511Q Substitution - Missense Skin COSM313373 NSD1 c.6898G>A p.A2300T Substitution - Missense Soft_tissue COSM5508997 BAZ2B c.5455G>A p.G1819S Substitution - Missense Biliary_tract COSM1746181 SIRT3 c.1037A>T p.D346V Substitution - Missense Urinary_tract COSM3555666 HDAC10 c.1317G>A p.E439E Substitution - coding silent Skin COSM4513079 ARID4A c.926C>T p.P309L Substitution - Missense Skin COSM1372833 MGA c.6824_6825insA p.S2277fs*5 Insertion - Frameshift Large_intestine COSM3411008 DAXX c.164G>A p.G55D Substitution - Missense Central_nervous_system COSM3697432 PRDM1 c.1366C>T p.P456S Substitution - Missense Large_intestine COSM3620160 NCOA7 c.893C>T p.P298L Substitution - Missense Skin COSM3734719 MSH6 c.? p.R1035* Substitution - Nonsense Central_nervous_system COSM907736 ARID1A c.5197G>T p.E1733* Substitution - Nonsense Large_intestine COSM4982901 KDM6A c.2909T>A p.I970K Substitution - Missense Oesophagus COSM4451715 EYA2 c.1369A>T p.K457* Substitution - Nonsense Skin COSM1288664 TRRAP c.5532G>C p.M1844I Substitution - Missense Autonomic_ganglia COSM1179107 KMT2C c.851G>A p.R284Q Substitution - Missense Upper_aerodigestive_tract COSM4603809 NSD1 c.4359delT p.S1454fs*33 Deletion - Frameshift Upper_aerodigestive_tract COSM3341123 NSD1 c.3598C>T p.R1200W Substitution - Missense Stomach COSM5793311 GTF3C4 c.2331C>T p.Y777Y Substitution - coding silent Breast COSM214077 ING2 c.278G>C p.S93T Substitution - Missense Breast COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM466117 HELLS c.1700T>C p.L567P Substitution - Missense Kidney COSM4399331 SMEK2 c.472C>A p.R158S Substitution - Missense Skin COSM3668822 EPC2 c.1069T>C p.L357L Substitution - coding silent Liver COSM4618518 NIPBL c.5047G>A p.D1683N Substitution - Missense Large_intestine COSM2061624 KDM4D c.176C>T p.A59V Substitution - Missense Large_intestine COSM5607883 ARID2 c.1209C>T p.I403I Substitution - coding silent Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM1262044 PHF2 c.2488G>A p.A830T Substitution - Missense Oesophagus COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Skin COSM1383433 EZH1 c.1794G>T p.K598N Substitution - Missense Large_intestine COSM5970710 HDAC7 c.957C>A p.A319A Substitution - coding silent Upper_aerodigestive_tract COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM3668615 TCF20 c.3563G>T p.C1188F Substitution - Missense Liver COSM3926682 TAF1L c.3635C>T p.A1212V Substitution - Missense Skin COSM937179 EP400 c.6926T>C p.V2309A Substitution - Missense Endometrium COSM458126 BRWD3 c.980G>A p.S327N Substitution - Missense Breast COSM3650088 CHD7 c.8717C>T p.S2906F Substitution - Missense Skin COSM452278 SND1 c.2661C>T p.S887S Substitution - coding silent Endometrium COSM4397710 CHD2 c.2497C>T p.P833S Substitution - Missense Skin COSM5949818 CHD7 c.5006C>T p.T1669I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4952925 CREBBP c.1620G>T p.Q540H Substitution - Missense Liver COSM1738051 TET2 c.? p.I340fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM4023071 ASH1L c.312G>A p.E104E Substitution - coding silent Stomach COSM4694890 KDM2B c.1943G>A p.R648Q Substitution - Missense Large_intestine COSM5608145 CREBBP c.690C>T p.A230A Substitution - coding silent Skin COSM4663216 ARID1A c.1496C>T p.S499L Substitution - Missense Large_intestine COSM1318847 ASXL1 c.2197C>T p.Q733* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM261588 KIAA1045 c.331C>A p.L111M Substitution - Missense Large_intestine COSM1583153 DNMT3A c.? p.?fs Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM716178 BAZ2B c.1157C>A p.P386H Substitution - Missense Lung COSM2098811 ING4 c.493C>T p.R165C Substitution - Missense Small_intestine COSM4702414 KMT2D c.14362G>A p.V4788M Substitution - Missense Large_intestine COSM4097571 ASXL1 c.4399C>A p.L1467I Substitution - Missense Stomach COSM5786248 HCFC1 c.1362C>T p.A454A Substitution - coding silent Breast COSM1007250 EPC2 c.2351_2351+1insGT p.E785fs*1 Unknown Endometrium COSM4584998 WHSC1 c.509A>C p.K170T Substitution - Missense Bone COSM5347833 SETDB1 c.1424+4_1424+7delAGTG p.? Unknown Liver COSM5805873 SP140_ENST00000392045 c.2279A>T p.Q760L Substitution - Missense Liver COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4454674 CHD9 c.554A>T p.N185I Substitution - Missense Skin COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4832530 BAHD1 c.568G>A p.D190N Substitution - Missense Cervix COSM4465755 NCOA1 c.1399C>T p.P467S Substitution - Missense Skin COSM754387 UHRF2 c.807C>A p.T269T Substitution - coding silent Lung COSM724832 DIDO1 c.3534G>T p.E1178D Substitution - Missense Lung COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM87003 DNMT3A c.1432C>T p.R478W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5795354 MEN1 c.800T>G p.L267R Substitution - Missense Breast COSM1199740 CBX8 c.965G>A p.R322Q Substitution - Missense Large_intestine COSM4943957 TDRD5 c.774T>A p.T258T Substitution - coding silent Liver COSM4421413 ARID1B c.6111G>C p.W2037C Substitution - Missense Pleura COSM5880081 BAP1 c.? p.D663fs*? Frameshift Meninges COSM1209432 HDGFL1 c.217C>T p.R73C Substitution - Missense Large_intestine COSM41715 ASXL1 c.3202C>T p.R1068* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4732913 TDRD6 c.1473G>A p.A491A Substitution - coding silent Soft_tissue COSM4532584 PRMT8 c.189G>A p.K63K Substitution - coding silent Skin COSM1082838 ZCWPW1 c.1103C>A p.S368Y Substitution - Missense Endometrium COSM5731085 KMT2C c.3989delT p.L1330fs*1 Deletion - Frameshift Breast COSM1196237 KDM4B c.2957G>T p.R986L Substitution - Missense Lung COSM1254834 ING3 c.96G>T p.V32V Substitution - coding silent Oesophagus COSM5462555 GLYR1 c.1029C>T p.G343G Substitution - coding silent Large_intestine COSM36167 ASXL1 c.2423delC p.P808fs*10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM143600 PCGF1 c.416_417CC>TT p.P139L Substitution - Missense Skin COSM1242397 JMJD1C c.127C>T p.R43C Substitution - Missense Large_intestine COSM3926293 PRDM12 c.18C>T p.L6L Substitution - coding silent Skin COSM51976 BAP1 c.507C>G p.H169Q Substitution - Missense Eye COSM301933 CHD7 c.8268G>A p.T2756T Substitution - coding silent Central_nervous_system COSM5048070 NCOA2 c.280A>G p.I94V Substitution - Missense Oesophagus COSM726780 BRD1 c.1947T>C p.Y649Y Substitution - coding silent Lung COSM5930415 ARID1A c.2360C>T p.S787F Substitution - Missense Skin COSM373421 KDM6A c.2938_2938+1GG>TT p.? Unknown Lung COSM221587 TET2 c.452_453delTG p.V151fs*10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1158877 MORF4L2 c.615C>T p.P205P Substitution - coding silent Pancreas COSM3416048 PHRF1 c.2520C>T p.S840S Substitution - coding silent Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1723867 BRD7 c.1859C>T p.P620L Substitution - Missense Skin COSM2155837 HDAC4 c.528A>G p.Q176Q Substitution - coding silent Central_nervous_system COSM1184957 BRPF3 c.2909G>A p.R970H Substitution - Missense Stomach COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5443437 JHDM1D c.1523G>A p.R508Q Substitution - Missense Oesophagus COSM1289811 MBD6 c.1156C>T p.R386W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM282449 LMNB1 c.1036A>C p.M346L Substitution - Missense Large_intestine COSM4060386 MYST1 c.406C>T p.R136C Substitution - Missense Stomach COSM88808 TET2 c.? p.G1288D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5592680 PRDM9 c.636C>T p.F212F Substitution - coding silent Skin COSM3375511 SIRT1 c.1095C>A p.S365S Substitution - coding silent Pancreas COSM3721998 GTF3C4 c.1713C>G p.T571T Substitution - coding silent Upper_aerodigestive_tract COSM1125824 BRWD3 c.3784C>T p.R1262* Substitution - Nonsense Endometrium COSM5725619 ARID2 c.992G>A p.G331D Substitution - Missense Skin COSM1181008 CHD1 c.629delA p.K210fs*39 Deletion - Frameshift Large_intestine COSM5364059 RAI1 c.942C>T p.Y314Y Substitution - coding silent Large_intestine COSM5691982 SUV420H2 c.1243G>T p.A415S Substitution - Missense Soft_tissue COSM1018633 ATAD2B_ENST00000238789 c.3065A>C p.D1022A Substitution - Missense Endometrium COSM25423 PHF3 c.13G>A p.D5N Substitution - Missense Lung COSM5782323 SND1 c.2067G>A p.E689E Substitution - coding silent Breast COSM1437258 NIPBL c.1507delA p.R505fs*35 Deletion - Frameshift Large_intestine COSM227040 ZCWPW1 c.1858G>A p.D620N Substitution - Missense Skin COSM3762398 TIF1 c.2487A>G p.G829G Substitution - coding silent Large_intestine COSM3749716 NCOA3 c.3753G>A p.Q1251Q Substitution - coding silent Large_intestine COSM3649297 MYST3 c.3586C>T p.P1196S Substitution - Missense Skin COSM4143736 ARID1A c.1567T>C p.S523P Substitution - Missense Thyroid COSM4659113 ACTL6B c.1030A>G p.S344G Substitution - Missense Large_intestine COSM3687908 TDG c.268A>G p.K90E Substitution - Missense Breast COSM3393521 PRDM9 c.610+7G>T p.? Unknown Pancreas COSM51200 ASXL1 c.1888_1910del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM455834 TAF1L c.692T>C p.L231S Substitution - Missense Breast COSM589489 KDM3B c.3076G>T p.G1026C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4753741 TCF20 c.3659G>A p.G1220E Substitution - Missense Stomach COSM4115476 ACTL6A c.976A>C p.S326R Substitution - Missense Stomach COSM5811205 PRDM13 c.788G>T p.G263V Substitution - Missense Liver COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM88784 EP300 c.4879C>T p.R1627W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5977433 HCFC1 c.4002C>T p.H1334H Substitution - coding silent Upper_aerodigestive_tract COSM52897 PBRM1 c.836_838>AA p.I279fs*4 Complex - frameshift Kidney COSM1377534 SETD1A c.3141C>G p.S1047S Substitution - coding silent Stomach COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5980013 PHRF1 c.3488G>A p.R1163Q Substitution - Missense Upper_aerodigestive_tract COSM3987078 BAZ2A_ENST00000379441 c.1298C>T p.T433I Substitution - Missense Kidney COSM308681 MSH6 c.3253_3254insC p.F1088fs*5 Insertion - Frameshift Stomach COSM4981673 NCOA3 c.3655G>A p.G1219S Substitution - Missense Oesophagus COSM896908 ASH1L c.7638A>G p.S2546S Substitution - coding silent Endometrium COSM3583113 SMYD5 c.205C>T p.R69C Substitution - Missense Skin COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5491999 JARID2 c.2594G>A p.C865Y Substitution - Missense Biliary_tract COSM5704467 KMT2D c.14725C>T p.R4909C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM703251 SRCAP c.8209C>T p.R2737W Substitution - Missense Lung COSM5356198 TET2 c.3252A>G p.Q1084Q Substitution - coding silent Large_intestine COSM3858857 SHPRH c.2138T>C p.V713A Substitution - Missense Stomach COSM5751924 PHF6 c.839G>A p.C280Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1377475 SRCAP c.5626delC p.P1878fs*89 Deletion - Frameshift Breast COSM110715 ASXL1 c.? p.? Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4694052 MYST3 c.5327C>T p.A1776V Substitution - Missense Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3780474 KDM6A c.3498G>A p.W1166* Substitution - Nonsense Pancreas COSM5575149 GABRG1 c.307G>C p.D103H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1125481 ATRX c.2599A>C p.N867H Substitution - Missense Endometrium COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM431207 KMT2D c.9934C>T p.R3312W Substitution - Missense Breast COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM97156 PRDM1 c.632_633delAG p.E211fs*23 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5920138 KDM2A c.2488C>T p.R830C Substitution - Missense Skin COSM403719 SETBP1 c.1127G>T p.S376I Substitution - Missense Lung COSM3733336 KMT2C c.2263C>T p.Q755* Substitution - Nonsense Upper_aerodigestive_tract COSM3294775 EYA2 c.755G>A p.R252Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM162848 NCOR1 c.6899C>G p.S2300* Substitution - Nonsense Breast COSM1480506 DNMT1 c.2575G>A p.D859N Substitution - Missense Bone COSM4923148 NSD1 c.215T>G p.L72R Substitution - Missense Liver COSM5722287 INOC1 c.2013C>T p.F671F Substitution - coding silent Skin COSM5355895 WHSC1 c.3951G>A p.P1317P Substitution - coding silent Large_intestine COSM5917536 BAZ2B c.2365-3C>T p.? Unknown Skin COSM3447098 RAG2 c.446G>A p.G149E Substitution - Missense Skin COSM4101599 BRWD1 c.2656C>T p.R886* Substitution - Nonsense Stomach COSM3799545 CHD6 c.7716G>C p.K2572N Substitution - Missense Urinary_tract COSM4798304 BAHCC1 c.931G>A p.G311S Substitution - Missense Liver COSM28365 KMT2C c.4549G>A p.G1517R Substitution - Missense Large_intestine COSM132975 ASXL1 c.? p.L775* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4115475 ACTL6A c.947G>A p.G316E Substitution - Missense Stomach COSM1302460 SMYD4 c.1335C>G p.L445L Substitution - coding silent Urinary_tract COSM456033 KDM4C c.1888G>T p.A630S Substitution - Missense Breast COSM2762673 ADNP c.3166C>T p.R1056C Substitution - Missense Large_intestine COSM5614177 SMEK1 c.35C>T p.T12M Substitution - Missense Lung COSM4186810 NCOA1 c.3062T>C p.M1021T Substitution - Missense Kidney COSM1087668 KMT2C c.569G>A p.R190Q Substitution - Missense Endometrium COSM5962807 BAG6 c.1741G>A p.A581T Substitution - Missense Breast COSM206276 KMT2C c.1966G>A p.V656I Substitution - Missense Prostate COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Upper_aerodigestive_tract COSM4401613 ARID1A c.2758C>T p.Q920* Substitution - Nonsense Upper_aerodigestive_tract COSM683635 BMI1 c.15G>T p.T5T Substitution - coding silent Lung COSM3988787 NCOR1 c.7171C>G p.R2391G Substitution - Missense Kidney COSM3419584 MTF2 c.133A>C p.K45Q Substitution - Missense Large_intestine COSM5422866 SUV39H1 c.917A>G p.D306G Substitution - Missense Pleura COSM1451968 BAZ1B c.3911G>A p.R1304H Substitution - Missense Large_intestine COSM1469442 ATRX c.6001T>C p.W2001R Substitution - Missense Large_intestine COSM254614 CHD6 c.64C>T p.P22S Substitution - Missense Urinary_tract COSM1315839 ASXL1 c.2355_2355delT p.R786fs*32 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM281635 HDAC9 c.219G>T p.E73D Substitution - Missense Large_intestine COSM687755 PRMT3 c.1366G>T p.D456Y Substitution - Missense Lung COSM4950810 PHF21A c.702G>A p.Q234Q Substitution - coding silent Liver COSM4098298 ACTR5 c.856G>A p.G286S Substitution - Missense Stomach COSM5063275 CHD7 c.2675G>A p.R892H Substitution - Missense Stomach COSM5654282 ARID4A c.457G>C p.D153H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM211601 HNF1A c.713+8_713+9insAGT p.? Unknown Liver COSM4991936 PBRM1 c.2521C>T p.Q841* Substitution - Nonsense Skin COSM5721127 KMT2C c.5475C>T p.F1825F Substitution - coding silent Skin COSM5628924 SMCHD1 c.1718A>T p.Q573L Substitution - Missense Oesophagus COSM5913333 ARID2 c.2009C>T p.P670L Substitution - Missense Skin COSM317632 KMT2A c.4268T>C p.L1423S Substitution - Missense Lung COSM5007144 PHF2 c.442G>A p.D148N Substitution - Missense Large_intestine COSM1312267 TDRD6 c.2124G>A p.Q708Q Substitution - coding silent Urinary_tract COSM3972513 DNMT3B c.251C>G p.T84S Substitution - Missense Central_nervous_system COSM907749 ARID1A c.5980delG p.V1994fs*21 Deletion - Frameshift Endometrium COSM5714704 TDRD6 c.265C>T p.R89W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4939284 PRDM9 c.1332A>G p.P444P Substitution - coding silent Liver COSM2965365 KDM6A c.1980C>A p.L660L Substitution - coding silent Upper_aerodigestive_tract COSM5932443 PHF19 c.130C>T p.Q44* Substitution - Nonsense Skin COSM414947 KAT6B c.3244G>C p.E1082Q Substitution - Missense Urinary_tract COSM1667387 ZMYM1 c.1699C>T p.Q567* Substitution - Nonsense Large_intestine COSM2208072 GATAD2B c.992G>A p.R331K Substitution - Missense Oesophagus COSM1662351 MYST3 c.2626C>A p.Q876K Substitution - Missense Kidney COSM363443 KMT2C c.595C>T p.R199* Substitution - Nonsense Lung COSM439947 UHRF1 c.2209A>G p.I737V Substitution - Missense Breast COSM5520109 HDAC4 c.2498A>C p.K833T Substitution - Missense Biliary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5016577 MYST2 c.104_122del19 p.T35fs*9 Deletion - Frameshift Kidney COSM110818 BAP1 c.1_2190del2190 p.0? Whole gene deletion Pleura COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4506631 BPTF c.7253C>T p.P2418L Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM276400 NSD1 c.1176C>T p.F392F Substitution - coding silent Endometrium COSM1568458 STK31 c.1401C>G p.R467R Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM312119 KDM4D c.640G>T p.V214L Substitution - Missense Lung COSM308469 SETD2 c.5551A>G p.T1851A Substitution - Missense Kidney COSM5407035 KMT2C c.14403C>T p.I4801I Substitution - coding silent Skin COSM85814 DAXX c.102_102delT p.A36fs*108 Deletion - Frameshift Pancreas COSM3952460 BRD3 c.265A>G p.R89G Substitution - Missense Lung COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4545126 ZGPAT c.370G>A p.E124K Substitution - Missense Skin COSM3972385 SMYD1 c.324G>A p.A108A Substitution - coding silent Central_nervous_system COSM4527635 HNF1A c.1479G>A p.M493I Substitution - Missense Skin COSM4984088 PHF12 c.2532C>T p.F844F Substitution - coding silent Oesophagus COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM1677694 TDRD3 c.1143T>A p.Y381* Substitution - Nonsense Ovary COSM1158133 CHD7 c.3208G>A p.V1070M Substitution - Missense Pancreas COSM459064 ORC1 c.509C>T p.S170L Substitution - Missense Cervix COSM1606377 SMARCC2 c.2204T>A p.L735Q Substitution - Missense Liver COSM3555548 BRD1 c.753C>T p.I251I Substitution - coding silent Skin COSM1268754 TRRAP c.679G>C p.E227Q Substitution - Missense Stomach COSM5353779 RAD54L c.185C>T p.P62L Substitution - Missense Large_intestine COSM5880079 PHF6 c.914G>A p.C305Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5880079 PHF6 c.914G>A p.C305Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Pancreas COSM5490530 KMT2A c.1430C>T p.S477F Substitution - Missense Biliary_tract COSM3441886 HELLS c.1444G>A p.A482T Substitution - Missense Skin COSM3941815 PHF3 c.2903C>G p.S968C Substitution - Missense Oesophagus COSM1713475 CHD6 c.7985G>A p.G2662E Substitution - Missense Liver COSM269299 HDAC2 c.284-2A>G p.? Unknown Large_intestine COSM4837807 PHF21A c.501T>C p.A167A Substitution - coding silent Cervix COSM3615946 NIPBL c.3078T>G p.S1026R Substitution - Missense Skin COSM5475818 INOC1 c.2612A>G p.Y871C Substitution - Missense Large_intestine COSM3421314 SMYD4 c.2315C>T p.S772L Substitution - Missense Large_intestine COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM35337 ASXL1 c.1830C>T p.G610G Substitution - coding silent Central_nervous_system COSM24938 HNF1A c.527-2A>G p.? Unknown Liver COSM29729 MSH6 c.868delC p.L290fs*1 Deletion - Frameshift Large_intestine COSM43499 TET2 c.5693C>T p.S1898F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM122020 TDG c.387C>A p.T129T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM127888 EP300 c.924G>A p.P308P Substitution - coding silent Upper_aerodigestive_tract COSM133737 DNMT3A c.2207G>A p.R736H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM250079 EZH2 c.1477C>T p.P493S Substitution - Missense Oesophagus COSM238866 ASXL1 c.2250delC p.V751fs*21 Deletion - Frameshift Prostate COSM252981 CREBBP c.3370-4delT p.? Unknown Skin COSM250932 EZH2 c.2024A>G p.N675S Substitution - Missense Liver COSM262333 NCOA6 c.5126C>A p.S1709Y Substitution - Missense Large_intestine COSM258059 SMARCA5 c.799A>C p.R267R Substitution - coding silent Large_intestine COSM280913 EZH2 c.507A>C p.E169D Substitution - Missense Large_intestine COSM302996 PRMT10 c.1786G>A p.V596I Substitution - Missense Central_nervous_system COSM308335 KMT2C c.11906_11907insAA p.D3970fs*18 Insertion - Frameshift Biliary_tract COSM334955 PHF2 c.2700C>T p.D900D Substitution - coding silent Lung COSM379334 WHSC1 c.3295G>A p.E1099K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM405092 KMT2D c.3471_3472delTG p.C1157fs*1 Deletion - Frameshift Lung COSM416993 GLYR1 c.1171C>T p.Q391* Substitution - Nonsense Urinary_tract COSM426749 RERE c.2041T>C p.S681P Substitution - Missense Breast COSM431043 PRMT8 c.1180C>T p.R394C Substitution - Missense Autonomic_ganglia COSM458300 RBBP5 c.219-3C>T p.? Unknown Oesophagus COSM452672 KMT2C c.13273G>T p.D4425Y Substitution - Missense Breast COSM452708 KMT2C c.5974G>C p.E1992Q Substitution - Missense Breast COSM480356 PBRM1 c.2536G>T p.E846* Substitution - Nonsense Kidney COSM954441 CHD8 c.3236C>T p.T1079I Substitution - Missense Endometrium COSM753631 TAF1L c.1937C>A p.A646E Substitution - Missense Lung COSM1692494 ZCWPW2 c.289C>T p.P97S Substitution - Missense Skin COSM932714 EED c.1077C>T p.S359S Substitution - coding silent Endometrium COSM894496 TTF2 c.2863C>A p.L955I Substitution - Missense Endometrium COSM1007226 MBD5 c.2105C>A p.S702Y Substitution - Missense Endometrium COSM1045489 SETD2 c.1598A>C p.E533A Substitution - Missense Endometrium COSM3724472 ARID1A c.5336A>G p.E1779G Substitution - Missense Large_intestine COSM1122177 HDAC6 c.92C>T p.S31L Substitution - Missense Endometrium COSM1108221 TAF1L c.4208C>T p.T1403M Substitution - Missense Liver COSM1093615 TRRAP c.4103C>T p.A1368V Substitution - Missense Endometrium COSM1201017 CHD9 c.4126G>A p.E1376K Substitution - Missense Large_intestine COSM1199734 CBX4 c.822G>A p.M274I Substitution - Missense Large_intestine COSM1184472 BAZ1A c.1725A>C p.K575N Substitution - Missense Large_intestine COSM1214637 MBD2 c.586T>C p.Y196H Substitution - Missense Large_intestine COSM1190968 HDAC6 c.546_547delCT p.A184fs*18 Deletion - Frameshift Lung COSM1605805 EP400 c.92A>C p.H31P Substitution - Missense Liver COSM1285331 HDAC4 c.2750C>T p.P917L Substitution - Missense Autonomic_ganglia COSM1285404 HNF1A c.1011C>T p.S337S Substitution - coding silent Autonomic_ganglia COSM1306902 SMEK2 c.1904A>T p.D635V Substitution - Missense Urinary_tract COSM1325519 CARM1 c.630C>G p.I210M Substitution - Missense Ovary COSM1386949 CBX8 c.956delG p.G319fs*37 Deletion - Frameshift Large_intestine COSM1386949 CBX8 c.956delG p.G319fs*37 Deletion - Frameshift Stomach COSM1408703 SMEK2 c.2262G>A p.S754S Substitution - coding silent Large_intestine COSM1425742 SETD5_ENST00000402198 c.1797A>C p.E599D Substitution - Missense Large_intestine COSM1453144 TRRAP c.1339C>T p.R447W Substitution - Missense Small_intestine COSM1363776 CHD4 c.417G>T p.E139D Substitution - Missense Soft_tissue COSM1358321 HCFC2 c.408T>C p.G136G Substitution - coding silent Large_intestine COSM1545496 ARID1B c.4217C>T p.P1406L Substitution - Missense Large_intestine COSM1475831 SUV420H1 c.309C>T p.S103S Substitution - coding silent Bone COSM1478091 INOC1 c.934C>T p.H312Y Substitution - Missense Skin COSM1476838 CHD4 c.2629C>T p.R877W Substitution - Missense Kidney COSM1609406 CHD9 c.969G>T p.Q323H Substitution - Missense Liver COSM1615454 DNMT3B c.96C>T p.S32S Substitution - coding silent Liver COSM1583401 SETDB1 c.1938C>T p.F646F Substitution - coding silent Breast COSM1620693 CHD1 c.4902C>G p.H1634Q Substitution - Missense Liver COSM1626323 TRIM33 c.2127A>T p.L709L Substitution - coding silent Liver COSM1628576 KDM5A c.4395C>A p.D1465E Substitution - Missense Liver COSM1634486 L3MBTL3 c.1034A>G p.Y345C Substitution - Missense Liver COSM1688026 BRDT c.544C>T p.P182S Substitution - Missense Skin COSM1713602 ZMYND8 c.3104C>T p.S1035F Substitution - Missense Skin COSM1703819 RAG2 c.1120G>A p.D374N Substitution - Missense Skin COSM1704051 GLYATL1 c.71G>A p.G24E Substitution - Missense Skin COSM1662782 KMT2A c.3139G>T p.D1047Y Substitution - Missense Kidney COSM1753998 KDM3B c.1809A>T p.P603P Substitution - coding silent Urinary_tract COSM1741198 PRDM2 c.849_850insAGA p.D283_D284insR Insertion - In frame Haematopoietic_and_lymphoid_tissue COSM1739055 GABRG1 c.59G>T p.G20V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2209484 PYGO2 c.326delG p.G109fs*52 Deletion - Frameshift Large_intestine COSM2965485 KDM6A c.3941_3942insA p.E1316fs*17 Insertion - Frameshift Large_intestine COSM3097102 ATRX c.2556T>A p.D852E Substitution - Missense Large_intestine COSM3294987 ZMYND8 c.312T>C p.D104D Substitution - coding silent Upper_aerodigestive_tract COSM3376276 KMT2D c.8392G>T p.E2798* Substitution - Nonsense Pancreas COSM3508918 SRCAP c.7577C>T p.P2526L Substitution - Missense Skin COSM3434286 TDRD1 c.446C>T p.S149F Substitution - Missense Skin COSM3545552 NCOA6 c.5240C>T p.P1747L Substitution - Missense Skin COSM3563128 TAF1 c.82G>A p.E28K Substitution - Missense Skin COSM3522232 ZBTB4 c.1175C>A p.P392Q Substitution - Missense Skin COSM3525430 ASXL3 c.921A>G p.E307E Substitution - coding silent Skin COSM3528100 DNMT1 c.3526G>A p.A1176T Substitution - Missense Skin COSM3647910 ELP3 c.931C>T p.R311C Substitution - Missense Skin COSM3650737 EYA1 c.477A>T p.G159G Substitution - coding silent Skin COSM3710797 BAZ2A_ENST00000379441 c.3199G>T p.G1067C Substitution - Missense Upper_aerodigestive_tract COSM3710797 BAZ2A_ENST00000379441 c.3199G>T p.G1067C Substitution - Missense Upper_aerodigestive_tract COSM3736917 NIPBL c.2021A>G p.N674S Substitution - Missense Soft_tissue COSM3798865 NCOA1 c.3945G>C p.M1315I Substitution - Missense Urinary_tract COSM3794906 CHD9 c.4411G>A p.E1471K Substitution - Missense Urinary_tract COSM3854561 PRDM9 c.279A>C p.E93D Substitution - Missense Stomach COSM3820861 CHD3 c.2284G>A p.E762K Substitution - Missense Breast COSM3887816 CHD2 c.3381C>T p.L1127L Substitution - coding silent Skin COSM4054506 RTF1 c.1741C>T p.R581* Substitution - Nonsense Large_intestine COSM4040306 EP400 c.9044T>C p.V3015A Substitution - Missense Stomach COSM4098463 CHD6 c.2194C>T p.P732S Substitution - Missense Stomach COSM4125214 CLOCK c.1024C>T p.L342L Substitution - coding silent Stomach COSM4068931 BPTF c.5633C>A p.T1878N Substitution - Missense Stomach COSM4065904 PCGF2 c.341G>A p.R114H Substitution - Missense Stomach COSM4129608 NCOR1 c.571G>A p.E191K Substitution - Missense Upper_aerodigestive_tract COSM4162018 KMT2C c.2315C>T p.S772L Substitution - Missense Upper_aerodigestive_tract COSM4385600 TET2 c.4018_4019insT p.A1341fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4384616 KMT2A c.9107C>A p.S3036Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4602070 HDGFL1 c.350A>T p.D117V Substitution - Missense Upper_aerodigestive_tract COSM4494447 HDAC7 c.315C>T p.V105V Substitution - coding silent Skin COSM4529345 KMT2A c.1603G>A p.E535K Substitution - Missense Skin COSM4440460 SMYD4 c.2338G>T p.D780Y Substitution - Missense Thyroid COSM4463418 SMYD1 c.1290C>T p.S430S Substitution - coding silent Skin COSM4717876 PRMT2 c.1159G>A p.D387N Substitution - Missense Large_intestine COSM4678909 DNMT3B c.348G>A p.R116R Substitution - coding silent Large_intestine COSM4741928 YY1 c.1128C>T p.I376I Substitution - coding silent Large_intestine COSM4713946 PHF15 c.2014_2015insC p.S672fs*8 Insertion - Frameshift Large_intestine COSM4686162 GABRG1 c.1270A>C p.T424P Substitution - Missense Large_intestine COSM4766066 PBRM1 c.1922_1922delT p.L641fs*15 Deletion - Frameshift Soft_tissue COSM4770929 TCF20 c.322C>T p.Q108* Substitution - Nonsense Pleura COSM4774110 BAZ1B c.4431G>A p.R1477R Substitution - coding silent Stomach COSM4795433 DNMT3A c.513G>A p.R171R Substitution - coding silent Liver COSM4794194 BAZ2A_ENST00000379441 c.3636G>A p.Q1212Q Substitution - coding silent Liver COSM4817009 ZMYND8 c.2983G>A p.E995K Substitution - Missense Cervix COSM4958728 PRMT8 c.193C>T p.L65L Substitution - coding silent Liver COSM4960634 NCOR1 c.2549G>A p.S850N Substitution - Missense Liver COSM4960889 NCOR1 c.1095G>A p.R365R Substitution - coding silent Liver COSM4996388 TET2 c.1970C>G p.S657* Substitution - Nonsense Upper_aerodigestive_tract COSM5005897 KDM2B c.2094T>C p.D698D Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5006238 PYGO2 c.304G>A p.G102R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5005067 PHRF1 c.856G>A p.V286M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4971496 ATRX c.5449-1G>A p.? Unknown Central_nervous_system COSM5016920 SMYD2 c.670G>T p.V224F Substitution - Missense Kidney COSM5009094 TRRAP c.1713T>G p.G571G Substitution - coding silent Large_intestine COSM5055243 NCOR1 c.1089G>A p.G363G Substitution - coding silent Stomach COSM5153041 UHRF2 c.2271A>G p.L757L Substitution - coding silent Large_intestine COSM5046513 GTF3C4 c.478C>A p.P160T Substitution - Missense Oesophagus COSM5348489 L3MBTL3 c.1736+4_1736+5insT p.? Unknown Liver COSM5350603 CHD6 c.2614G>A p.D872N Substitution - Missense Lung COSM5404407 EYA4 c.1068G>A p.R356R Substitution - coding silent Skin COSM5404407 EYA4 c.1068G>A p.R356R Substitution - coding silent Skin COSM5404409 EYA4 c.1192G>A p.D398N Substitution - Missense Skin COSM5393100 PRMT2 c.857C>T p.S286L Substitution - Missense Skin COSM5401234 GABRG1 c.1261G>A p.D421N Substitution - Missense Skin COSM5464377 DNMT1 c.1293C>T p.I431I Substitution - coding silent Large_intestine COSM5470620 RAI1 c.2737G>A p.G913S Substitution - Missense Large_intestine COSM5430093 KDM3A c.320G>A p.R107Q Substitution - Missense Oesophagus COSM5428677 PHIP c.709A>T p.N237Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5454627 BAHCC1 c.1083C>T p.A361A Substitution - coding silent Large_intestine COSM5457615 SETD2 c.399T>A p.F133L Substitution - Missense Large_intestine COSM5649856 TDG c.370C>G p.L124V Substitution - Missense Oesophagus COSM5751348 MSH6 c.197delC p.P66fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5724968 ARID2 c.4795C>T p.P1599S Substitution - Missense Skin COSM5748960 ZMYM3 c.2206C>T p.R736C Substitution - Missense Pancreas COSM5716641 L3MBTL3 c.499C>T p.P167S Substitution - Missense Skin COSM5691922 ZBTB4 c.884G>T p.G295V Substitution - Missense Soft_tissue COSM5702251 CHD6 c.1681-1_1681GG>TT p.? Unknown Soft_tissue COSM5752160 KMT2C c.1863_1887del25 p.N621fs*6 Deletion - Frameshift Breast COSM5704663 RNF17 c.1124A>C p.N375T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5551196 MSH6 c.1278T>C p.C426C Substitution - coding silent Prostate COSM5611434 BAP1 c.40delC p.L14fs*58 Deletion - Frameshift Pleura COSM5779885 UHRF1 c.1720-8C>G p.? Unknown Breast COSM5791642 CBX4 c.768G>C p.K256N Substitution - Missense Breast COSM5794879 BRDT c.2489G>C p.R830T Substitution - Missense Breast COSM5879678 ASXL1 c.4116_4117delTT p.F1373fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5835180 BAG6 c.2127_2128insT p.L710fs*9 Insertion - Frameshift Breast COSM5882266 KMT2D c.4138G>C p.G1380R Substitution - Missense Skin COSM5940591 CDYL2 c.464G>A p.G155E Substitution - Missense Skin COSM5965362 EHMT2 c.2603+3G>C p.? Unknown Breast COSM5990202 HNF1A c.202_234del33 p.R68_G78del Deletion - In frame Liver COSM5975151 GABRG1 c.291C>T p.N97N Substitution - coding silent Upper_aerodigestive_tract COSM6008658 HDAC10 c.1012A>G p.S338G Substitution - Missense Prostate COSM1738147 EZH2 c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM21287 BRD3 c.481G>A p.A161T Substitution - Missense Stomach COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41729 TET2 c.3928_3929insT p.K1310fs*6 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1162160 ATRX c.? p.R781* Substitution - Nonsense Central_nervous_system COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM445940 PHC3 c.854C>G p.S285C Substitution - Missense Breast COSM4689590 HCFC1 c.2979C>A p.T993T Substitution - coding silent Large_intestine COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM5361289 ARID2 c.2607delT p.Q871fs*2 Deletion - Frameshift Large_intestine COSM3604593 CLOCK c.346G>T p.E116* Substitution - Nonsense Skin COSM6002627 CBX4 c.827C>T p.A276V Substitution - Missense Prostate COSM5027774 SETDB2 c.1460C>T p.S487L Substitution - Missense Breast COSM742763 TDRD6 c.5658C>T p.G1886G Substitution - coding silent Lung COSM3447301 ALKBH3 c.376A>G p.T126A Substitution - Missense Skin COSM1679533 KDM6B c.1033G>A p.E345K Substitution - Missense Large_intestine COSM2919990 CREBBP c.3506G>A p.R1169H Substitution - Missense Stomach COSM4987829 BAHCC1 c.6272G>A p.R2091H Substitution - Missense Soft_tissue COSM3447390 PRDM11 c.510C>T p.I170I Substitution - coding silent Skin COSM4018321 KMT2A c.6637A>G p.M2213V Substitution - Missense Stomach COSM4663933 ATAD2B_ENST00000238789 c.2730G>T p.L910F Substitution - Missense Large_intestine COSM4753460 BRWD1 c.4375C>T p.P1459S Substitution - Missense Stomach COSM3685189 ACTB c.124-1G>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4714020 PHF8 c.2796C>T p.S932S Substitution - coding silent Large_intestine COSM4533947 ASH1L c.2030G>A p.S677N Substitution - Missense Skin COSM1290518 CREBBP c.6952C>G p.Q2318E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1352572 PRDM10 c.1129C>T p.H377Y Substitution - Missense Large_intestine COSM4807461 MYST1 c.450C>A p.N150K Substitution - Missense Pancreas COSM1054430 WHSC1 c.1249G>A p.D417N Substitution - Missense Endometrium COSM1049755 TET2 c.2441G>A p.R814H Substitution - Missense Endometrium COSM5614597 SMARCA4 c.2878G>T p.E960* Substitution - Nonsense Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4492677 KDM4D c.401C>G p.P134R Substitution - Missense Skin COSM1040975 MECOM c.503C>T p.T168M Substitution - Missense Endometrium COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM393608 ZCWPW2 c.42C>T p.N14N Substitution - coding silent Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM1615722 ADNP c.2990C>G p.S997C Substitution - Missense Liver COSM4532776 AP001011.3_ENST00000320876 c.1918G>A p.E640K Substitution - Missense Skin COSM5753891 SETD1B c.1933C>T p.Q645* Substitution - Nonsense Large_intestine COSM4500168 KMT2A c.5581C>T p.L1861L Substitution - coding silent Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3203522 MECOM c.2933A>C p.Q978P Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41296 IDH2 c.? p.R172W Substitution - Missense Central_nervous_system COSM1087672 KMT2C c.403G>A p.A135T Substitution - Missense Endometrium COSM2160705 SFMBT2 c.1173G>A p.A391A Substitution - coding silent Prostate COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4766090 TET2 c.3312_3313insT p.I1105fs*25 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1123030 SMC1A c.2131C>T p.R711W Substitution - Missense Large_intestine COSM1682289 EP300 c.4751T>G p.L1584R Substitution - Missense Large_intestine COSM1423650 DHX30 c.3110G>A p.R1037Q Substitution - Missense Large_intestine COSM5596957 L3MBTL2 c.847C>T p.P283S Substitution - Missense Skin COSM41292 IDH1 c.? p.R132G Substitution - Missense Biliary_tract COSM1716183 EZH2 c.? p.V679M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5498709 BRWD3 c.814-5_814-4delTT p.? Unknown Biliary_tract COSM3668468 ADNP c.1401A>T p.K467N Substitution - Missense Liver COSM85916 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5893352 EHMT1 c.3259C>T p.R1087C Substitution - Missense Skin COSM1631885 SP110 c.850A>G p.I284V Substitution - Missense Liver COSM42042 TET2 c.5163_5163delG p.L1721fs*24 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3434302 TDRD1 c.3145C>T p.P1049S Substitution - Missense Skin COSM3594173 SETMAR c.962C>T p.P321L Substitution - Missense Skin COSM3594796 SMARCC1 c.1250C>T p.T417I Substitution - Missense Skin COSM908426 PHC2 c.1719C>T p.I573I Substitution - coding silent Large_intestine COSM4752497 PHC2 c.2153G>T p.G718V Substitution - Missense Stomach COSM4682121 EYA1 c.1389C>T p.A463A Substitution - coding silent Large_intestine COSM4383529 DNMT3A c.2546C>T p.P849L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4692527 INO80B c.932G>T p.R311L Substitution - Missense Large_intestine COSM485079 KMT2C c.9181C>A p.Q3061K Substitution - Missense Kidney COSM3749702 ACTR5 c.18C>T p.F6F Substitution - coding silent Large_intestine COSM144566 PHF6 c.808C>T p.Q270* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4504755 KAT2A c.673C>T p.P225S Substitution - Missense Skin COSM3867353 ERCC6 c.2345C>T p.S782F Substitution - Missense Skin COSM4961132 KMT2D c.299G>A p.G100E Substitution - Missense Liver COSM2950081 BRPF1 c.2806C>G p.P936A Substitution - Missense Prostate COSM452696 KMT2C c.10571T>C p.V3524A Substitution - Missense Breast COSM3408409 MECOM c.1227G>A p.S409S Substitution - coding silent Central_nervous_system COSM1255501 KDM6A c.4176+1G>A p.? Unknown Prostate COSM4096122 KDM3A c.1333T>C p.S445P Substitution - Missense Stomach COSM1618924 CLOCK c.1397A>T p.H466L Substitution - Missense Liver COSM4896296 ELP3 c.970C>T p.R324C Substitution - Missense Skin COSM3650072 CHD7 c.3196C>T p.P1066S Substitution - Missense Skin COSM1087 SMARCB1 c.?del? p.?fs Deletion - Frameshift Soft_tissue COSM3774230 BAG6 c.1855T>C p.S619P Substitution - Missense Soft_tissue COSM1716775 TET2 c.? p.A1512fs*59 Frameshift Haematopoietic_and_lymphoid_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM480166 SETD2 c.2945+1G>C p.? Unknown Kidney COSM314463 PRMT3 c.916A>T p.I306F Substitution - Missense Lung COSM4965512 SETDB1 c.1483C>G p.R495G Substitution - Missense Pancreas COSM907698 ARID1A c.2248C>T p.R750* Substitution - Nonsense Endometrium COSM110268 L3MBTL4 c.809C>T p.S270F Substitution - Missense Skin COSM4787722 BAZ2A_ENST00000379441 c.2981A>G p.K994R Substitution - Missense Liver COSM1625908 PHF16 c.1126G>A p.E376K Substitution - Missense Liver COSM5912837 PRDM14 c.595G>A p.E199K Substitution - Missense Skin COSM3833581 TRRAP c.6139A>C p.T2047P Substitution - Missense Breast COSM1627981 PHF21A c.814C>G p.P272A Substitution - Missense Liver COSM422814 PBRM1 c.3534-1G>T p.? Unknown Kidney COSM3600226 PHF17 c.80C>T p.S27F Substitution - Missense Skin COSM4735986 TRIM24 c.835_836insA p.T281fs*17 Insertion - Frameshift Large_intestine COSM5935650 TDRD1 c.130C>T p.P44S Substitution - Missense Skin COSM5628756 BAZ2A c.4128_4129insC p.A1377fs*4 Insertion - Frameshift Oesophagus COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM224749 ASXL3 c.2482T>G p.F828V Substitution - Missense Skin COSM464664 KDM4A c.1935G>C p.Q645H Substitution - Missense Kidney COSM3905433 BRD3 c.338A>G p.Y113C Substitution - Missense Stomach COSM5807888 MECP2 c.1436C>T p.T479M Substitution - Missense Liver COSM907764 ARID1A c.6761_6767delACGAATC p.E2255fs*10 Deletion - Frameshift Endometrium COSM1716125 BAHCC1 c.6943T>G p.S2315A Substitution - Missense Small_intestine COSM1643498 ATAD2 c.1957C>T p.R653* Substitution - Nonsense Stomach COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3390704 KDM5C c.1601G>T p.W534L Substitution - Missense Pancreas COSM4680845 ELP3 c.909_910insT p.E306fs*1 Insertion - Frameshift Large_intestine COSM1623364 TRRAP c.10468C>T p.R3490W Substitution - Missense Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM914351 ASXL1 c.? p.T707fs*21 Unknown Haematopoietic_and_lymphoid_tissue COSM4957277 SETD5_ENST00000402198 c.2648A>G p.N883S Substitution - Missense Liver COSM3524743 AP001011.3_ENST00000320876 c.2480C>T p.S827L Substitution - Missense Skin COSM4990266 KMT2D c.4093G>A p.D1365N Substitution - Missense Skin COSM3763347 MYST3 c.4455C>T p.S1485S Substitution - coding silent Soft_tissue COSM4041980 ARID2 c.484G>T p.V162L Substitution - Missense Stomach COSM4100199 DIDO1 c.1804G>A p.A602T Substitution - Missense Stomach COSM215940 WHSC1 c.3448A>G p.T1150A Substitution - Missense Central_nervous_system COSM3368460 PHRF1 c.2613G>A p.T871T Substitution - coding silent Thyroid COSM3358427 KDM5C c.167_168delTT p.F56fs*18 Deletion - Frameshift Kidney COSM5945659 TET2 c.5633_5634insCG p.E1879fs*9 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4622412 HCFC2 c.582A>G p.T194T Substitution - coding silent Large_intestine COSM473480 KDM6B c.2635G>T p.A879S Substitution - Missense Upper_aerodigestive_tract COSM2889502 DNMT3B c.516C>T p.D172D Substitution - coding silent Stomach COSM3390274 PHF21B c.213+5G>A p.? Unknown Pancreas COSM3747935 AICDA c.431A>T p.Y144F Substitution - Missense Upper_aerodigestive_tract COSM235573 WHSC1 c.141C>T p.F47F Substitution - coding silent Skin COSM144640 ASXL1 c.? p.E1192* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1753008 MECOM c.1234G>A p.D412N Substitution - Missense Urinary_tract COSM963068 PYGO1 c.1222G>T p.E408* Substitution - Nonsense Endometrium COSM5719121 NCOA3 c.1750A>T p.M584L Substitution - Missense Skin COSM3879553 KMT2C c.8602A>G p.T2868A Substitution - Missense Stomach COSM3736847 BRD8 c.673G>T p.G225C Substitution - Missense Upper_aerodigestive_tract COSM4134435 ASXL1 c.3759T>C p.S1253S Substitution - coding silent Soft_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5937112 SETD5_ENST00000402198 c.3200C>T p.S1067F Substitution - Missense Skin COSM51200 ASXL1 c.1888_1910del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3650671 PRDM14 c.925G>A p.G309S Substitution - Missense Skin COSM1602141 ARID1A c.2179_2194del16 p.R727fs*10 Deletion - Frameshift Liver COSM5054849 SETD1A c.164T>C p.I55T Substitution - Missense Stomach COSM3957080 CHD2 c.2551G>T p.D851Y Substitution - Missense Lung COSM3841921 BRWD1 c.3436G>C p.E1146Q Substitution - Missense Breast COSM1076162 PHF10 c.548C>A p.P183Q Substitution - Missense Endometrium COSM720753 DNMT3A c.1596C>T p.G532G Substitution - coding silent Lung COSM162772 MYST3 c.2302G>C p.D768H Substitution - Missense Breast COSM4060280 SETD1A c.3144G>A p.S1048S Substitution - coding silent Stomach COSM215880 MSH6 c.3611C>A p.A1204E Substitution - Missense Central_nervous_system COSM4052631 ALKBH1 c.505C>T p.R169C Substitution - Missense Stomach COSM1367372 SETDB2 c.665T>G p.F222C Substitution - Missense Large_intestine COSM5940560 TP53BP1 c.113C>T p.S38F Substitution - Missense Skin COSM5944477 DNMT3A c.1921_1922insT p.D641fs*27 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1085998 TIF1 c.1673C>T p.T558M Substitution - Missense Endometrium COSM96422 EP300 c.2480T>C p.L827P Substitution - Missense Breast COSM1969489 BTAF1 c.3537T>C p.G1179G Substitution - coding silent Large_intestine COSM286649 ZCWPW1 c.1818C>T p.D606D Substitution - coding silent Large_intestine COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3949746 PHF14 c.1054G>T p.G352* Substitution - Nonsense Lung COSM478087 PHF20 c.1441A>T p.K481* Substitution - Nonsense Kidney COSM1344509 RERE c.4070_4071insC p.T1358fs*37 Insertion - Frameshift Large_intestine COSM110721 BAP1 c.178C>T p.R60* Substitution - Nonsense Meninges COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3988424 SRCAP c.327G>T p.R109R Substitution - coding silent Kidney COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5611226 ARID1A c.2499_2500CC>TT p.P834S Substitution - Missense Skin COSM1179489 SRCAP c.6083T>G p.M2028R Substitution - Missense Prostate COSM69849 BRPF1 c.1623C>G p.H541Q Substitution - Missense Ovary COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM42016 TET2 c.4393C>T p.R1465* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3474699 TDRD10 c.613C>T p.P205S Substitution - Missense Skin COSM1581803 TAF1L c.4765G>A p.D1589N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4106533 SMARCA1 c.2773A>G p.R925G Substitution - Missense Stomach COSM4386171 KMT2C c.2228C>T p.P743L Substitution - Missense Upper_aerodigestive_tract COSM87103 TET2 c.2450_2454delCCCCT p.S817fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1114037 ZBTB33 c.1887C>T p.T629T Substitution - coding silent Endometrium COSM5363418 SRCAP c.8876A>G p.D2959G Substitution - Missense Large_intestine COSM3035784 SCML2 c.1406C>A p.S469Y Substitution - Missense Large_intestine COSM100051 PRDM1 c.1_2370del2370 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM5391880 NCOA6 c.3195C>T p.S1065S Substitution - coding silent Skin COSM4468532 KMT2D c.14685C>T p.I4895I Substitution - coding silent Skin COSM4746675 PHF14 c.1181delT p.F395fs*21 Deletion - Frameshift Stomach COSM1030657 BRWD1 c.6731G>T p.R2244I Substitution - Missense Endometrium COSM46444 HNF1A c.1274_1275delCG p.T425fs*123 Deletion - Frameshift Liver COSM1470199 RAD54L c.1138C>T p.R380W Substitution - Missense Prostate COSM3733336 KMT2C c.2263C>T p.Q755* Substitution - Nonsense Upper_aerodigestive_tract COSM5773061 PHRF1 c.4195G>C p.V1399L Substitution - Missense Breast COSM488458 KDM5C c.2392G>T p.E798* Substitution - Nonsense Kidney COSM3953823 RSF1 c.4079C>A p.P1360Q Substitution - Missense Lung COSM3784069 STK31 c.2475T>A p.P825P Substitution - coding silent Prostate COSM3666463 PHRF1 c.4358C>T p.P1453L Substitution - Missense Liver COSM4384084 NSD1 c.4858G>A p.V1620I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4139282 DAXX c.1411C>T p.Q471* Substitution - Nonsense Pancreas COSM144610 KMT2D c.7648C>T p.Q2550* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5612201 TDRD5 c.1435T>C p.Y479H Substitution - Missense Adrenal_gland COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM724388 NCOA5 c.1589C>G p.S530C Substitution - Missense Lung COSM4014442 ERCC6 c.3157C>T p.R1053C Substitution - Missense Large_intestine COSM903688 SMYD2 c.203G>A p.C68Y Substitution - Missense Endometrium COSM3304106 KMT2C c.7959A>G p.L2653L Substitution - coding silent Large_intestine COSM4010588 BRDT c.835A>G p.I279V Substitution - Missense Stomach COSM681942 RERE c.3778G>A p.A1260T Substitution - Missense Lung COSM4804714 EPC2 c.2394A>G p.A798A Substitution - coding silent Liver COSM4574277 SIRT3 c.985A>G p.S329G Substitution - Missense Bone COSM4478256 SUV420H1 c.2222C>T p.S741F Substitution - Missense Skin COSM1602148 ARID1A c.3972delC p.P1326fs*155 Deletion - Frameshift Liver COSM4794469 SETD1A c.1038G>A p.S346S Substitution - coding silent Liver COSM1288137 SP100 c.2086G>T p.D696Y Substitution - Missense Autonomic_ganglia COSM255454 EHMT1 c.3402C>T p.A1134A Substitution - coding silent Skin COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Soft_tissue COSM3660588 DHX30 c.278G>A p.W93* Substitution - Nonsense Liver COSM5858040 NCOA3 c.3445C>T p.P1149S Substitution - Missense Oesophagus COSM4705969 NCOA6 c.5273C>T p.P1758L Substitution - Missense Large_intestine COSM971039 GLYR1 c.1607C>T p.A536V Substitution - Missense Endometrium COSM3860708 HDGFL1 c.29A>T p.K10M Substitution - Missense Stomach COSM3667926 CHD9 c.4511T>G p.V1504G Substitution - Missense Liver COSM326327 RBBP4 c.1156G>A p.E386K Substitution - Missense Lung COSM4110859 ZMYM3 c.1695A>C p.T565T Substitution - coding silent Stomach COSM1031238 AIRE c.207G>T p.Q69H Substitution - Missense Endometrium COSM1034764 TCF20 c.3229G>A p.A1077T Substitution - Missense Endometrium COSM4167271 TET2 c.? p.Y1421* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4735995 TIF1 c.2917_2918insA p.R975fs*10 Insertion - Frameshift Large_intestine COSM5737776 EYA4 c.539C>T p.A180V Substitution - Missense Small_intestine COSM3525872 SETBP1 c.3534C>T p.A1178A Substitution - coding silent Skin COSM5730162 EYA2 c.396_397insTACACC p.Y135_Q136insTY Insertion - In frame Skin COSM5892071 EPC1 c.1246C>T p.H416Y Substitution - Missense Skin COSM377741 PRDM14 c.1435C>G p.H479D Substitution - Missense Lung COSM5583140 ZMYM5 c.389G>A p.G130E Substitution - Missense Skin COSM912518 RERE c.2083G>A p.D695N Substitution - Missense Endometrium COSM41649 TET2 c.4075C>T p.R1359C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5360570 RSF1 c.1003G>C p.D335H Substitution - Missense Large_intestine COSM23021 MEN1 c.1327T>C p.S443P Substitution - Missense Parathyroid COSM5945691 ATRX c.? p.E1702* Substitution - Nonsense Central_nervous_system COSM4502369 DIDO1 c.6118C>T p.R2040C Substitution - Missense Skin COSM1621962 PHIP c.4643C>G p.S1548C Substitution - Missense Liver COSM3528392 CARM1 c.450C>T p.F150F Substitution - coding silent Skin COSM5669574 BAHD1 c.923T>C p.L308S Substitution - Missense Soft_tissue COSM4792958 PRDM2 c.682C>A p.Q228K Substitution - Missense Liver COSM333350 TDRD5 c.1724G>A p.R575K Substitution - Missense Lung COSM5565077 PRDM13 c.687C>T p.R229R Substitution - coding silent Prostate COSM1377485 SRCAP c.8815C>T p.R2939* Substitution - Nonsense Large_intestine COSM1716651 ATRX c.2239_2240delAG p.S747fs*6 Deletion - Frameshift Central_nervous_system COSM3911839 ZGPAT c.1543C>A p.L515M Substitution - Missense Skin COSM206739 ASH1L c.8212C>T p.R2738W Substitution - Missense Endometrium COSM972489 CTCF c.1168_1169insGT p.D390fs*6 Insertion - Frameshift Endometrium COSM1735694 KMT2D c.? p.? Substitution - Missense Central_nervous_system COSM4022217 POGZ c.3257G>A p.R1086Q Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4429937 BAP1 c.1161_1162insCA p.V388fs*43 Insertion - Frameshift Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5688056 PRDM13 c.919G>T p.A307S Substitution - Missense Soft_tissue COSM4334453 ARID2 c.103delA p.I37fs*21 Deletion - Frameshift Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5561233 EPC2 c.2241T>A p.N747K Substitution - Missense Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3562428 PHF8 c.2204C>T p.S735L Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM910000 DMAP1 c.1036C>G p.L346V Substitution - Missense Endometrium COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM211720 TET2 c.3812G>A p.C1271Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1367547 TDRD3 c.1456C>T p.R486* Substitution - Nonsense Stomach COSM973980 CDYL2 c.1052T>C p.V351A Substitution - Missense Endometrium COSM3855009 NIPBL c.2035T>A p.S679T Substitution - Missense Stomach COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3091747 SMARCA2 c.2345T>C p.L782P Substitution - Missense Large_intestine COSM5993051 PRDM16 c.2306C>T p.A769V Substitution - Missense Prostate COSM30577 SMARCA4 c.2653C>T p.R885C Substitution - Missense Large_intestine COSM5643079 PHF8 c.966G>T p.L322L Substitution - coding silent Oesophagus COSM33732 IDH2 c.515G>T p.R172M Substitution - Missense Central_nervous_system COSM3964352 EP300 c.4256T>C p.I1419T Substitution - Missense Lung COSM4871687 CHD4 c.3485G>A p.R1162Q Substitution - Missense Endometrium COSM1538540 MINA c.866G>A p.G289D Substitution - Missense Central_nervous_system COSM133001 ARID1A c.5548_5548delG p.D1850fs*33 Deletion - Frameshift Stomach COSM3203540 MECOM c.2535A>C p.T845T Substitution - coding silent Large_intestine COSM3296114 MBD5 c.852T>C p.P284P Substitution - coding silent Upper_aerodigestive_tract COSM3656843 TAF1L c.3598C>T p.R1200C Substitution - Missense Skin COSM5752306 NCOR1 c.1576_1577delGA p.E526fs*9 Deletion - Frameshift Breast COSM3495811 BAZ1A c.744G>A p.T248T Substitution - coding silent Stomach COSM52798 PBRM1 c.169_171delATC p.I57del Deletion - In frame Kidney COSM3732277 KAT2A c.1021_1023delAAG p.K341delK Deletion - In frame Stomach COSM3398048 KAT5 c.1288G>A p.G430R Substitution - Missense Central_nervous_system COSM4975354 MBD5 c.2644C>T p.Q882* Substitution - Nonsense Oesophagus COSM3374656 ACTB c.598T>G p.F200V Substitution - Missense Thyroid COSM1581322 NIPBL c.2785G>C p.D929H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5771759 CHD6 c.3226G>C p.D1076H Substitution - Missense Breast COSM4031000 ARID1A c.526C>T p.Q176* Substitution - Nonsense Stomach COSM3958678 BPTF c.5342G>A p.S1781N Substitution - Missense Lung COSM3946383 GABRG1 c.811G>T p.G271* Substitution - Nonsense Ovary COSM1424478 PHF7 c.397delT p.F134fs*85 Deletion - Frameshift Large_intestine COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM22061 NCOA1 c.2079_2080CT>TC p.(=) Unknown Lung COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM29382 SMARCB1 c.1143delG p.A382fs*5 Deletion - Frameshift Central_nervous_system COSM83884 ARID1A c.3826C>T p.R1276* Substitution - Nonsense Endometrium COSM51424 ARID1A c.1029_1043del15 p.A344_A348del Deletion - In frame Liver COSM46435 HNF1A c.1441C>T p.Q481* Substitution - Nonsense Liver COSM85812 DAXX c.1393G>T p.E465* Substitution - Nonsense Pancreas COSM73811 BAZ2B c.3687T>A p.S1229R Substitution - Missense Ovary COSM98838 TRRAP c.10031A>G p.K3344R Substitution - Missense Stomach COSM86960 IDH2 c.512G>A p.G171D Substitution - Missense Skin COSM112087 TDG c.286_287insA p.I98fs*6 Insertion - Frameshift Skin COSM131514 ARID2 c.5281G>T p.E1761* Substitution - Nonsense Liver COSM142973 TRRAP c.10919_10920GG>AA p.R3640Q Substitution - Missense Skin COSM137679 KDM4B c.2933C>T p.S978F Substitution - Missense Skin COSM139439 HDAC4 c.490+1G>A p.? Unknown Skin COSM221229 ZMYM6 c.1667T>A p.M556K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM167903 TP53BP1 c.670G>A p.E224K Substitution - Missense Endometrium COSM176860 SMARCA4 c.1959G>A p.P653P Substitution - coding silent Large_intestine COSM219638 PHF19 c.779+3G>C p.? Unknown Breast COSM243668 CHD3 c.5793C>T p.Y1931Y Substitution - coding silent Prostate COSM266413 DOT1L c.691C>T p.R231* Substitution - Nonsense Large_intestine COSM255880 TRRAP c.3682G>A p.E1228K Substitution - Missense Central_nervous_system COSM287292 GLYR1 c.1140_1141insG p.R381fs*15 Insertion - Frameshift Large_intestine COSM272930 MBD5 c.3720G>A p.L1240L Substitution - coding silent Large_intestine COSM277376 SMARCA2 c.3490G>A p.G1164R Substitution - Missense Large_intestine COSM276282 NCOA5 c.94C>T p.R32* Substitution - Nonsense Skin COSM298325 ARID1A c.3978_3980delGCA p.Q1334delQ Deletion - In frame Large_intestine COSM299362 NCOA1 c.1761G>T p.E587D Substitution - Missense Large_intestine COSM316562 WHSC1 c.1596A>G p.I532M Substitution - Missense Soft_tissue COSM307120 SETD8 c.267C>T p.A89A Substitution - coding silent Biliary_tract COSM308080 KMT2C c.14641G>T p.E4881* Substitution - Nonsense Biliary_tract COSM330755 ERCC6 c.2388C>T p.F796F Substitution - coding silent Lung COSM326565 SRCAP c.1085G>A p.R362Q Substitution - Missense Cervix COSM340212 BAP1 c.419C>T p.A140V Substitution - Missense Lung COSM335127 NCOA6 c.427C>T p.R143* Substitution - Nonsense Endometrium COSM345125 ASXL1 c.2655G>A p.L885L Substitution - coding silent Lung COSM402953 KMT2C c.1067A>T p.Q356L Substitution - Missense Lung COSM416503 BAHD1 c.2331G>C p.K777N Substitution - Missense Urinary_tract COSM422756 PBRM1 c.237-3C>A p.? Unknown Kidney COSM426159 ZMYM4 c.3596C>T p.S1199L Substitution - Missense Breast COSM446613 SETD2 c.3495C>G p.F1165L Substitution - Missense Breast COSM456029 KDM4C c.362G>A p.R121H Substitution - Missense Stomach COSM452726 KMT2C c.2722G>T p.G908C Substitution - Missense Soft_tissue COSM472342 NCOR1 c.6411A>C p.P2137P Substitution - coding silent Kidney COSM988834 MBD1 c.648C>T p.L216L Substitution - coding silent Endometrium COSM480934 PRMT10 c.1330+1G>A p.? Unknown Kidney COSM480294 BAP1 c.67+1G>A p.? Unknown Eye COSM1600797 POGZ c.1414T>G p.F472V Substitution - Missense Liver COSM916361 PWWP2B c.1452C>T p.D484D Substitution - coding silent Endometrium COSM685312 KAT6B c.5794C>A p.L1932M Substitution - Missense Lung COSM685412 SFMBT2 c.333C>T p.Y111Y Substitution - coding silent Oesophagus COSM694435 BAZ2A c.844+1G>T p.? Unknown Lung COSM674887 PRDM2 c.3595G>C p.E1199Q Substitution - Missense Lung COSM955471 BAZ1A c.1145G>A p.R382H Substitution - Missense Endometrium COSM1030468 SETD4 c.763G>A p.E255K Substitution - Missense Endometrium COSM758038 KDM5D c.934-1G>T p.? Unknown Lung COSM707552 BPTF c.427G>T p.E143* Substitution - Nonsense Lung COSM703032 CREBBP c.4223G>A p.C1408Y Substitution - Missense Soft_tissue COSM912607 RERE c.1174A>G p.I392V Substitution - Missense Endometrium COSM1044866 SETMAR c.460C>T p.R154C Substitution - Missense Endometrium COSM1071561 PRDM13 c.149G>A p.R50H Substitution - Missense Endometrium COSM971431 CHD9 c.5665G>A p.A1889T Substitution - Missense Endometrium COSM1240077 RNF2 c.900C>T p.G300G Substitution - coding silent Oesophagus COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1230621 TRRAP c.6580G>A p.V2194I Substitution - Missense Large_intestine COSM1209429 HDGF c.505C>T p.P169S Substitution - Missense Large_intestine COSM1184241 ATXN7 c.2642A>G p.N881S Substitution - Missense Large_intestine COSM1266233 SMARCA4 c.1352G>A p.R451H Substitution - Missense Stomach COSM1187901 TRDMT1 c.644G>T p.S215I Substitution - Missense Lung COSM1159590 PHF6 c.2T>A p.M1K Substitution - Missense Pancreas COSM1333982 POGZ c.3695G>A p.R1232H Substitution - Missense Large_intestine COSM1324594 SETBP1 c.109C>A p.P37T Substitution - Missense Ovary COSM1361975 KMT2D c.12448C>T p.R4150W Substitution - Missense Upper_aerodigestive_tract COSM1489303 MYST3 c.5133C>T p.F1711F Substitution - coding silent Breast COSM1494799 SP140_ENST00000392045 c.1610C>T p.A537V Substitution - Missense Central_nervous_system COSM1627814 KMT2A c.2599A>G p.S867G Substitution - Missense Liver COSM1626142 ATRX c.1907A>C p.N636T Substitution - Missense Liver COSM1628605 ARID2 c.1095delA p.R366fs*5 Deletion - Frameshift Liver COSM1633358 SETD5_ENST00000402198 c.328A>G p.R110G Substitution - Missense Liver COSM1716414 CTCF c.610_611insA p.T204fs*26 Insertion - Frameshift Endometrium COSM1697062 BRPF3 c.1302A>T p.Q434H Substitution - Missense Skin COSM1716903 ASXL1 c.2384delC p.W796fs*22 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1755451 TRRAP c.4381G>C p.D1461H Substitution - Missense Urinary_tract COSM1745213 KMT2D c.3961_3962delGA p.E1321fs*8 Deletion - Frameshift Urinary_tract COSM2006831 KMT2D c.11606T>C p.V3869A Substitution - Missense Large_intestine COSM2687924 NIPBL c.4399A>G p.K1467E Substitution - Missense Central_nervous_system COSM2768725 SND1 c.1694G>A p.R565Q Substitution - Missense Central_nervous_system COSM2931126 DIDO1 c.3999A>G p.R1333R Substitution - coding silent Oesophagus COSM2965375 KDM6A c.2199C>A p.H733Q Substitution - Missense Upper_aerodigestive_tract COSM2965434 KDM6A c.3150A>G p.E1050E Substitution - coding silent Large_intestine COSM3237279 KDM3B c.981G>T p.G327G Substitution - coding silent Upper_aerodigestive_tract COSM3296105 MBD5 c.591C>A p.V197V Substitution - coding silent Large_intestine COSM3296181 MBD5 c.2418C>A p.S806S Substitution - coding silent Upper_aerodigestive_tract COSM3438378 ERCC6 c.4098C>T p.V1366V Substitution - coding silent Skin COSM3458540 ATF7IP c.2146C>G p.P716A Substitution - Missense Skin COSM3458247 EP400 c.5073C>T p.A1691A Substitution - coding silent Skin COSM3594679 SETD2 c.2108C>T p.S703F Substitution - Missense Skin COSM3545803 PHF20 c.1699G>A p.E567K Substitution - Missense Skin COSM3548793 DIDO1 c.3165C>T p.T1055T Substitution - coding silent Skin COSM3526236 MBD1 c.219C>T p.A73A Substitution - coding silent Skin COSM3514764 RAI1 c.3498C>T p.G1166G Substitution - coding silent Skin COSM3709875 JMJD1C c.4987+1G>T p.? Unknown Upper_aerodigestive_tract COSM3783607 PHF16 c.673G>A p.V225I Substitution - Missense Prostate COSM3807462 JMJD1C c.4887A>C p.A1629A Substitution - coding silent Breast COSM3790753 EPC1 c.1288G>A p.D430N Substitution - Missense Urinary_tract COSM3932917 MBD3 c.719A>G p.E240G Substitution - Missense Urinary_tract COSM3907607 UHRF2 c.2199C>T p.C733C Substitution - coding silent Stomach COSM3916385 BAP1 c.969C>T p.A323A Substitution - coding silent Skin COSM3900241 MYST3 c.3661G>A p.E1221K Substitution - Missense Stomach COSM3877895 SND1 c.1174C>T p.P392S Substitution - Missense Stomach COSM3901382 EYA1 c.783G>A p.P261P Substitution - coding silent Stomach COSM3968400 CHD4 c.2761C>T p.P921S Substitution - Missense Central_nervous_system COSM3981075 SIRT1 c.1208C>G p.P403R Substitution - Missense Ovary COSM4051440 ARID4A c.502C>T p.R168C Substitution - Missense Stomach COSM4101925 AIRE c.1348G>A p.A450T Substitution - Missense Stomach COSM4104448 L3MBTL2 c.1355A>G p.K452R Substitution - Missense Stomach COSM4075937 GATAD2A c.821G>A p.C274Y Substitution - Missense Stomach COSM4134606 EYA2 c.1160T>G p.V387G Substitution - Missense Upper_aerodigestive_tract COSM4140084 SETBP1 c.3514G>C p.G1172R Substitution - Missense Ovary COSM4162014 KMT2C c.2534G>A p.G845E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4175565 PWWP2B c.789G>T p.K263N Substitution - Missense Large_intestine COSM4386298 SUV39H2 c.611G>C p.G204A Substitution - Missense Large_intestine COSM4391987 NCOA6 c.2324A>G p.N775S Substitution - Missense Prostate COSM4602848 BPTF c.8028_8029insCCTCCAGCC p.P2684_P2685insAPP Insertion - In frame Upper_aerodigestive_tract COSM4419702 NSD1 c.1482C>T p.C494C Substitution - coding silent Soft_tissue COSM4525169 HDAC9 c.1313G>A p.R438K Substitution - Missense Skin COSM4541321 BRWD1 c.2982G>A p.W994* Substitution - Nonsense Skin COSM4548914 HDGF c.45G>C p.L15L Substitution - coding silent Skin COSM4526464 PRDM9 c.1398G>A p.R466R Substitution - coding silent Skin COSM4459584 NCOA7 c.1130C>T p.S377F Substitution - Missense Skin COSM4705986 NCOR1 c.2099A>G p.E700G Substitution - Missense Large_intestine COSM4660716 AKAP1 c.2T>C p.M1T Substitution - Missense Large_intestine COSM4685913 FXR1 c.957A>G p.E319E Substitution - coding silent Large_intestine COSM4611054 ASXL1 c.1935delT p.G646fs*57 Deletion - Frameshift Large_intestine COSM4766125 TET2 c.4193_4194insT p.T1399fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4800499 KDM6A c.1024A>T p.I342F Substitution - Missense Liver COSM4808648 SMC1A c.2109T>G p.S703S Substitution - coding silent Pancreas COSM4883987 SMARCA5 c.418G>T p.D140Y Substitution - Missense Upper_aerodigestive_tract COSM4913236 JMJD5 c.1240T>C p.W414R Substitution - Missense Liver COSM4937362 ARID1A c.1350G>A p.Q450Q Substitution - coding silent Liver COSM4923499 KMT2D c.8306A>G p.D2769G Substitution - Missense Liver COSM4842473 CHD4 c.3880-9C>T p.? Unknown Cervix COSM4824787 KMT2D c.7471C>T p.L2491L Substitution - coding silent Cervix COSM4954396 IDH2 c.178C>G p.R60G Substitution - Missense Liver COSM5024310 TCF20 c.1628G>A p.S543N Substitution - Missense Bone COSM5012580 MBD6 c.1832T>A p.L611H Substitution - Missense Kidney COSM5019408 DNMT1 c.1584C>A p.I528I Substitution - coding silent Soft_tissue COSM5064453 FMR1 c.568C>T p.R190W Substitution - Missense Skin COSM5347143 ARID1A c.4518T>G p.Y1506* Substitution - Nonsense Endometrium COSM5348366 CHD3 c.1618delC p.R540fs*16 Deletion - Frameshift Liver COSM5375645 BAZ2A_ENST00000379441 c.4797G>A p.R1599R Substitution - coding silent Skin COSM5418028 TBL1XR1 c.702+8T>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5499565 ORC1 c.1560C>A p.S520R Substitution - Missense Biliary_tract COSM5479222 CDYL2 c.559G>T p.E187* Substitution - Nonsense Large_intestine COSM5751883 PHF6 c.955_956insT p.R319fs*9 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5754694 TP53BP1 c.3574C>T p.Q1192* Substitution - Nonsense Large_intestine COSM5716284 DPF2 c.203C>T p.S68F Substitution - Missense Skin COSM5608143 CREBBP c.4732A>T p.S1578C Substitution - Missense Skin COSM5697689 SMYD3 c.79G>T p.E27* Substitution - Nonsense Soft_tissue COSM5550643 DNMT3B c.2530G>A p.A844T Substitution - Missense Prostate COSM5779931 UHRF1 c.1890C>G p.N630K Substitution - Missense Breast COSM5949094 KMT2D c.9419delC p.T3140fs*23 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5904636 CHD3 c.3679G>T p.D1227Y Substitution - Missense Skin COSM6002140 CHD9 c.5382T>C p.R1794R Substitution - coding silent Prostate COSM6005260 ATRX c.996T>C p.D332D Substitution - coding silent Prostate COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1737974 BAP1 c.? p.P42S Substitution - Missense Eye COSM4989869 SETD2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1685350 EZH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1978311 RAG2 c.1429T>A p.Y477N Substitution - Missense Large_intestine COSM4168279 PHF6 c.953delC p.S318fs*33 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM5755008 SUZ12 c.598A>T p.S200C Substitution - Missense Large_intestine COSM1682304 TCF20 c.1816G>A p.V606M Substitution - Missense Large_intestine COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM5417715 ATF2 c.88C>A p.P30T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM23305 HDAC2 c.1225C>T p.R409* Substitution - Nonsense Large_intestine COSM5436342 KMT2D c.3524G>A p.C1175Y Substitution - Missense Oesophagus COSM754400 KIAA2026_ENST00000399933 c.794+1G>C p.? Unknown Lung COSM4941272 PHRF1 c.1513C>T p.L505L Substitution - coding silent Liver COSM3594685 SETD2 c.760C>T p.Q254* Substitution - Nonsense Skin COSM74563 EYA3 c.335C>A p.T112N Substitution - Missense Ovary COSM1676466 KMT2A c.4234G>A p.E1412K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5766131 PRDM10 c.2072A>G p.H691R Substitution - Missense Large_intestine COSM1158936 SUV420H1 c.2418T>C p.L806L Substitution - coding silent Pancreas COSM3717866 SMCHD1 c.3373A>G p.I1125V Substitution - Missense Liver COSM43427 TET2 c.4609C>T p.Q1537* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3547379 NCOA3 c.2743C>T p.P915S Substitution - Missense Skin COSM374027 PHF21A c.1410C>T p.D470D Substitution - coding silent Large_intestine COSM1101454 EYA1 c.994A>G p.T332A Substitution - Missense Endometrium COSM4390899 MGA c.1663G>A p.D555N Substitution - Missense Breast COSM3973926 ATRX c.2848A>T p.K950* Substitution - Nonsense Central_nervous_system COSM442610 ATAD2B_ENST00000238789 c.335G>T p.R112L Substitution - Missense Breast COSM3108636 JMJD5 c.494C>T p.T165I Substitution - Missense Large_intestine COSM4970825 ATRX c.6334_6337delTTAT p.F2113fs*9 Deletion - Frameshift Central_nervous_system COSM1622170 MLL5 c.5043A>C p.P1681P Substitution - coding silent Thyroid COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM5933983 ACTR5 c.1414C>T p.L472F Substitution - Missense Skin COSM5601590 GTF3C1 c.991C>T p.R331W Substitution - Missense Skin COSM5404532 SHPRH c.559G>A p.E187K Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM6005439 HCFC1 c.824G>A p.R275H Substitution - Missense Prostate COSM106324 RAG2 c.684C>T p.I228I Substitution - coding silent Skin COSM4411206 SCMH1 c.1058C>T p.A353V Substitution - Missense Kidney COSM26961 ZBTB33 c.598G>A p.E200K Substitution - Missense Upper_aerodigestive_tract COSM3731429 SMARCC2 c.3128_3129insC p.G1044fs*33 Insertion - Frameshift Large_intestine COSM2740089 SMYD4 c.156A>T p.L52L Substitution - coding silent Large_intestine COSM3842113 PRMT2 c.147C>A p.L49L Substitution - coding silent Breast COSM5985386 SETD1A c.730T>C p.S244P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM285282 SP140_ENST00000392045 c.2116G>A p.D706N Substitution - Missense Pancreas COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM3637564 STK31 c.2728G>A p.D910N Substitution - Missense Skin COSM1688524 POGZ c.1648G>A p.E550K Substitution - Missense Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM961499 MGA c.2053G>T p.E685* Substitution - Nonsense Endometrium COSM3619181 PRDM1 c.846C>T p.I282I Substitution - coding silent Large_intestine COSM149207 DIDO1 c.1666G>A p.A556T Substitution - Missense Large_intestine COSM4159839 PRDM9 c.2042C>G p.T681S Substitution - Missense Upper_aerodigestive_tract COSM128701 NSD1 c.5502_5503insA p.A1837fs*10 Insertion - Frameshift Upper_aerodigestive_tract COSM1644698 KDM6A c.3799A>G p.I1267V Substitution - Missense Salivary_gland COSM1679027 SETD1A c.4651G>A p.A1551T Substitution - Missense Central_nervous_system COSM202117 KMT2A c.11577C>T p.A3859A Substitution - coding silent Skin COSM254634 CREBBP c.3779+1G>T p.? Unknown Urinary_tract COSM5344222 MSH6 c.1524G>C p.V508V Substitution - coding silent Large_intestine COSM85916 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3714152 SP140_ENST00000392045 c.1621C>T p.L541L Substitution - coding silent Upper_aerodigestive_tract COSM5560297 KMT2C c.4676T>C p.M1559T Substitution - Missense Prostate COSM5715994 MORF4L2 c.660C>T p.S220S Substitution - coding silent Skin COSM3656837 TAF1L c.4218C>T p.S1406S Substitution - coding silent Skin COSM4672879 CLOCK c.1975G>A p.A659T Substitution - Missense Large_intestine COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3999517 BAHD1 c.77A>G p.E26G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM124695 NCOR1 c.509A>G p.N170S Substitution - Missense Upper_aerodigestive_tract COSM4702408 KMT2D c.15148C>T p.R5050C Substitution - Missense Large_intestine COSM3377022 ACTA1 c.906G>A p.S302S Substitution - coding silent Pancreas COSM88744 CREBBP c.4507T>C p.Y1503H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1754516 EYA4 c.508T>C p.S170P Substitution - Missense Urinary_tract COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5945112 EZH2 c.1939T>C p.C647R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5943403 NCOA2 c.3917-4delT p.? Unknown Skin COSM3942073 JHDM1D c.2227G>C p.G743R Substitution - Missense Oesophagus COSM1009805 ATF2 c.1241C>T p.A414V Substitution - Missense Endometrium COSM287235 ATAD2B_ENST00000238789 c.646C>T p.R216* Substitution - Nonsense Large_intestine COSM1318622 TET2 c.3343delC p.P1115fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4957471 INTS12 c.21G>A p.L7L Substitution - coding silent Liver COSM5607836 ARID1A c.1299C>T p.T433T Substitution - coding silent Skin COSM3972556 CHD6 c.6471G>A p.A2157A Substitution - coding silent Central_nervous_system COSM1108209 TAF1L c.5230C>A p.L1744I Substitution - Missense Endometrium COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM219101 ASXL1 c.? p.C856* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4100482 ZGPAT c.1150C>T p.Q384* Substitution - Nonsense Stomach COSM145541 KDM5A c.2758G>T p.D920Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1378190 BRD7 c.831_832insAGAG p.D278fs*19 Insertion - Frameshift Large_intestine COSM5776270 ATAD2 c.3616C>T p.Q1206* Substitution - Nonsense Breast COSM4061192 CHD9 c.1211T>G p.L404R Substitution - Missense Stomach COSM254613 CHD6 c.3404G>A p.R1135H Substitution - Missense Skin COSM1359746 SETD8 c.322G>A p.A108T Substitution - Missense Large_intestine COSM128304 KDM5C c.2559C>T p.L853L Substitution - coding silent Upper_aerodigestive_tract COSM290061 JARID2 c.2507G>C p.C836S Substitution - Missense Large_intestine COSM231527 PRMT10 c.1266_1281del16 p.S423fs*20 Deletion - Frameshift Skin COSM5730760 KMT2D c.3077delG p.R1026fs*31 Deletion - Frameshift Breast COSM5050059 SUV39H2 c.729G>A p.T243T Substitution - coding silent Stomach COSM87276 EZH2 c.2018A>G p.N673S Substitution - Missense Stomach COSM5104116 ZBTB4 c.1950_1952delGGA p.E650delE Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM1756660 TAF1 c.4021C>G p.L1341V Substitution - Missense Urinary_tract COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4071895 ASXL3 c.735A>C p.E245D Substitution - Missense Stomach COSM5352282 ARID1A c.? p.R1989* Substitution - Nonsense Lung COSM1061230 BRD8 c.3313C>A p.H1105N Substitution - Missense Endometrium COSM3691300 CHD9 c.5945C>T p.T1982I Substitution - Missense Large_intestine COSM4424478 KMT2D c.3968G>C p.G1323A Substitution - Missense Oesophagus COSM6017847 ASXL1 c.1873C>T p.R625* Substitution - Nonsense Skin COSM5704353 EP400 c.6881G>A p.R2294K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4798141 MECP2 c.1362G>A p.G454G Substitution - coding silent Liver COSM5907998 RERE c.1591G>A p.D531N Substitution - Missense Skin COSM3669521 RING1 c.394C>T p.H132Y Substitution - Missense Liver COSM150871 CBX8 c.1143_1156del14 p.D381fs*>5 Deletion - Frameshift Stomach COSM5779685 KDM4D c.1215C>T p.L405L Substitution - coding silent Breast COSM3589858 MECOM c.1912G>A p.D638N Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM330642 TET2 c.? p.T665fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM1351673 KMT2A c.11102G>A p.R3701Q Substitution - Missense Large_intestine COSM3763347 MYST3 c.4455C>T p.S1485S Substitution - coding silent Large_intestine COSM1489851 EHMT1 c.2004G>A p.T668T Substitution - coding silent Breast COSM3739846 CHD4 c.3280G>A p.E1094K Substitution - Missense Liver COSM3770817 NCOA5 c.38+6G>A p.? Unknown Pancreas COSM216212 SMC1A c.2369G>A p.R790Q Substitution - Missense Central_nervous_system COSM251076 PHC2 c.2393A>G p.D798G Substitution - Missense Liver COSM1685876 SMYD1 c.829G>A p.E277K Substitution - Missense Skin COSM41293 IDH1 c.? p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5726632 SETD2 c.4762G>A p.G1588R Substitution - Missense Skin COSM1095770 ATAD2 c.1138C>T p.R380C Substitution - Missense Endometrium COSM5706112 SETD1A c.884C>T p.S295F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4053396 SETD3 c.92A>G p.E31G Substitution - Missense Stomach COSM1161539 PRDM9 c.199A>G p.R67G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1318945 DNMT3A c.2478+2T>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5887212 DNMT3A c.1668-4C>T p.? Unknown Skin COSM226363 SETBP1 c.3313G>A p.G1105S Substitution - Missense Upper_aerodigestive_tract COSM1757093 SMARCC1 c.1276C>T p.P426S Substitution - Missense Urinary_tract COSM4855203 KAT2A c.2299G>A p.E767K Substitution - Missense Cervix COSM1436892 PRDM9 c.2264G>A p.R755Q Substitution - Missense Large_intestine COSM1686672 HDAC7 c.233-1G>A p.? Unknown Skin COSM328011 IKZF1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5487434 RERE c.1398C>T p.T466T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5042823 BAZ2A c.3236G>A p.S1079N Substitution - Missense Liver COSM357543 CBX1 c.46G>A p.E16K Substitution - Missense Lung COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5767573 NSD1 c.3875T>G p.F1292C Substitution - Missense Breast COSM965435 MORF4L1 c.46C>T p.R16* Substitution - Nonsense Endometrium COSM3637547 STK31 c.1714G>A p.D572N Substitution - Missense Skin COSM3547327 EYA2 c.193G>A p.A65T Substitution - Missense Skin COSM3582344 SMEK2 c.1481G>T p.G494V Substitution - Missense Skin COSM1965135 KAT6B c.3288_3289insGAA p.E1104_N1105insE Insertion - In frame Large_intestine COSM1183570 ARID2 c.1330G>T p.D444Y Substitution - Missense Liver COSM1045646 SMARCC1 c.2759T>G p.I920S Substitution - Missense Endometrium COSM4134433 ASXL1 c.1565A>T p.Q522L Substitution - Missense Thyroid COSM993744 DOT1L c.1232G>A p.R411H Substitution - Missense Endometrium COSM3378203 EZH1 c.1270G>A p.V424I Substitution - Missense Pancreas COSM2820582 DNMT3L c.184C>T p.H62Y Substitution - Missense Skin COSM4987716 NCOA3 c.1758G>C p.Q586H Substitution - Missense Soft_tissue COSM88179 EZH2 c.1907C>T p.P636L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4758021 PHIP c.3893G>A p.R1298Q Substitution - Missense Stomach COSM4766036 SMYD3 c.106_107insA p.P36fs*34 Insertion - Frameshift Stomach COSM1122945 KDM5C c.2806C>T p.R936C Substitution - Missense Pancreas COSM5775549 FTO c.407G>C p.C136S Substitution - Missense Breast COSM3833569 TRRAP c.207C>T p.F69F Substitution - coding silent Breast COSM255118 MEN1 c.343_356del14 p.R115fs*60 Deletion - Frameshift Parathyroid COSM3995088 PHF3 c.505G>A p.A169T Substitution - Missense Kidney COSM328978 KMT2C c.8390delA p.K2797fs*26 Deletion - Frameshift Large_intestine COSM4977460 CHD7 c.5478C>G p.A1826A Substitution - coding silent Oesophagus COSM3193370 MBTD1 c.765C>T p.I255I Substitution - coding silent Large_intestine COSM4780544 KDM3B c.4736A>G p.E1579G Substitution - Missense Liver COSM1031766 PRMT2 c.1119G>A p.T373T Substitution - coding silent Endometrium COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1606531 CHD4 c.2288T>G p.V763G Substitution - Missense Liver COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM983303 BPTF c.2311G>C p.G771R Substitution - Missense Endometrium COSM4101617 BRWD1 c.287G>C p.S96T Substitution - Missense Stomach COSM5772390 KDM3B c.3308-7T>A p.? Unknown Breast COSM1477120 ZMYM2 c.3371A>G p.H1124R Substitution - Missense Breast COSM5691199 BAZ2A c.199G>A p.E67K Substitution - Missense Soft_tissue COSM5654722 SETD7 c.63A>G p.L21L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM53058 TET2 c.? p.D1376G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4580204 CHD3 c.1156C>G p.Q386E Substitution - Missense Bone COSM681071 PHC2 c.2467G>C p.G823R Substitution - Missense Lung COSM486637 NCOA2 c.3039A>G p.E1013E Substitution - coding silent Kidney COSM2077913 HDAC1 c.199T>C p.Y67H Substitution - Missense Large_intestine COSM1192753 CBX5 c.317delA p.K106fs*31 Deletion - Frameshift Large_intestine COSM2759360 PHF20 c.1961G>A p.R654H Substitution - Missense Stomach COSM4506234 SETD2 c.5636C>T p.S1879F Substitution - Missense Skin COSM3551333 AIRE c.409G>A p.E137K Substitution - Missense Skin COSM377492 GTF3C1 c.2132G>A p.R711H Substitution - Missense Lung COSM5721663 TRIM66 c.3380C>T p.S1127F Substitution - Missense Skin COSM5759405 SUZ12 c.1771T>C p.W591R Substitution - Missense Bone COSM4031166 EYA3 c.737C>T p.A246V Substitution - Missense Bone COSM5976078 PHF3 c.4668G>A p.T1556T Substitution - coding silent Upper_aerodigestive_tract COSM1158959 PRDM1 c.517_523delCACTACC p.H173fs*6 Deletion - Frameshift Pancreas COSM217231 SMARCB1 c.602G>T p.R201L Substitution - Missense Liver COSM1316066 KMT2D c.7591C>T p.R2531* Substitution - Nonsense Upper_aerodigestive_tract COSM5460787 ZBTB4 c.1761G>T p.G587G Substitution - coding silent Large_intestine COSM970040 SETD1A c.1421A>G p.E474G Substitution - Missense Endometrium COSM3676523 CHD4 c.13C>T p.L5L Substitution - coding silent Large_intestine COSM3959465 DNMT1 c.658G>C p.E220Q Substitution - Missense Lung COSM21824 ZMYM4 c.1290_1291insA p.P431fs*9 Insertion - Frameshift Kidney COSM1167994 ARID2 c.2128C>T p.P710S Substitution - Missense Skin COSM24929 HNF1A c.788G>A p.R263H Substitution - Missense Liver COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM13393 MSH6 c.2836G>T p.E946* Substitution - Nonsense Large_intestine COSM423141 PBRM1 c.3869_3875+9del16 p.? Unknown Kidney COSM4842429 BPTF c.1940C>G p.S647* Substitution - Nonsense Cervix COSM5423007 CHD7 c.5243T>C p.L1748P Substitution - Missense Prostate COSM4420258 ACTL6B c.609C>A p.C203* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3739512 EP400 c.7071G>A p.V2357V Substitution - coding silent Liver COSM4043663 BAZ2A_ENST00000379441 c.4544T>C p.L1515P Substitution - Missense Stomach COSM1348589 JMJD1C c.2873C>A p.T958K Substitution - Missense Large_intestine COSM4987867 BAZ2A c.5351G>A p.G1784D Substitution - Missense Soft_tissue COSM3555269 PHF21B c.652C>T p.P218S Substitution - Missense Skin COSM4116759 ZCWPW2 c.1034A>C p.K345T Substitution - Missense Stomach COSM4483000 BRPF3 c.2660C>T p.P887L Substitution - Missense Skin COSM1721319 PHF2 c.1193G>A p.G398E Substitution - Missense Skin COSM5994787 SETD2 c.1566T>G p.G522G Substitution - coding silent Prostate COSM41877 IDH2 c.418C>T p.R140W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4888117 ZMYM3 c.1445C>A p.T482K Substitution - Missense Upper_aerodigestive_tract COSM1257540 MECP2 c.593G>C p.R198T Substitution - Missense Oesophagus COSM1720117 PRDM14 c.1316G>A p.R439Q Substitution - Missense Skin COSM4592007 RAI1 c.841_843delCAG p.Q291delQ Deletion - In frame Upper_aerodigestive_tract COSM1673965 EYA1 c.981G>A p.W327* Substitution - Nonsense Large_intestine COSM4134462 NCOA6 c.5640G>A p.T1880T Substitution - coding silent Thyroid COSM1493074 PHC1 c.2162A>G p.D721G Substitution - Missense Kidney COSM1100821 CHD7 c.4275C>T p.F1425F Substitution - coding silent Endometrium COSM1315087 MORF4L2 c.753A>G p.L251L Substitution - coding silent Urinary_tract COSM1195778 SMARCA5 c.2258G>A p.R753H Substitution - Missense Lung COSM3361800 CHD9 c.7923G>A p.K2641K Substitution - coding silent Kidney COSM3989673 SMARCA4 c.3801C>A p.G1267G Substitution - coding silent Kidney COSM6001690 CHD2 c.1907T>C p.F636S Substitution - Missense Prostate COSM225885 KMT2C c.1139G>T p.R380L Substitution - Missense Prostate COSM1476063 HCFC2 c.1984G>C p.G662R Substitution - Missense Breast COSM5548621 TDRD7 c.38C>T p.A13V Substitution - Missense Prostate COSM988154 INO80C c.333C>A p.I111I Substitution - coding silent Endometrium COSM979418 KAT2A c.1455C>T p.A485A Substitution - coding silent Endometrium COSM5650068 PHF23 c.533_535delCTC p.P178delP Deletion - In frame Oesophagus COSM4580604 SMARCA4 c.2455G>A p.A819T Substitution - Missense Bone COSM1041561 ACTL6A c.1151A>T p.N384I Substitution - Missense Endometrium COSM961527 MGA c.6741C>T p.D2247D Substitution - coding silent Endometrium COSM259529 ASXL3 c.534G>T p.K178N Substitution - Missense Large_intestine COSM3563497 ATRX c.6178G>A p.E2060K Substitution - Missense Skin COSM221263 MUM1 c.2086G>T p.E696* Substitution - Nonsense Large_intestine COSM1177808 SND1 c.1127C>T p.P376L Substitution - Missense Endometrium COSM1215168 KMT2A c.3941C>T p.P1314L Substitution - Missense Large_intestine COSM4385584 TET2 c.2351_2352insA p.C784fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM211731 TET2 c.4133G>A p.C1378Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM212798 MORF4L1 c.202G>A p.E68K Substitution - Missense Breast COSM4823530 MBD3 c.606G>A p.K202K Substitution - coding silent Cervix COSM33281 ERCC6 c.1955G>T p.R652L Substitution - Missense Large_intestine COSM1756789 MBD6 c.1199C>G p.S400C Substitution - Missense Urinary_tract COSM4445248 MEN1 c.1132G>T p.E378* Substitution - Nonsense Adrenal_gland COSM1071749 PRDM1 c.2022C>T p.C674C Substitution - coding silent Endometrium COSM2823099 KDM3A c.2221G>C p.V741L Substitution - Missense Upper_aerodigestive_tract COSM4904658 ASH1L c.6251C>T p.S2084F Substitution - Missense Skin COSM5807416 TRIM24 c.2739A>G p.L913L Substitution - coding silent Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM357514 MTA1 c.772C>T p.L258F Substitution - Missense Pancreas COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM51432 ARID1A c.6472C>T p.R2158* Substitution - Nonsense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5042422 DNMT1 c.1840G>A p.G614R Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1606134 ARID2 c.1125delG p.E376fs*15 Deletion - Frameshift Liver COSM5023333 ZMYM3 c.94G>A p.E32K Substitution - Missense Bone COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5370101 TDRD1 c.165G>A p.L55L Substitution - coding silent Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5656078 SETD1B c.1774C>T p.R592C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4388357 YY1 c.1103T>A p.F368Y Substitution - Missense Pancreas COSM4634316 INO80C c.515G>T p.R172M Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM225589 ACTB c.155C>T p.S52F Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1446059 PHIP c.487C>T p.R163* Substitution - Nonsense Large_intestine COSM1321018 RAD54L c.956G>A p.R319Q Substitution - Missense Ovary COSM940102 KMT2D c.13A>C p.K5Q Substitution - Missense Endometrium COSM3724486 SMARCA4 c.1626_1626delC p.I542fs*71 Deletion - Frameshift Ovary COSM1081844 PHIP c.4790C>T p.A1597V Substitution - Missense Large_intestine COSM2788406 ELP3 c.1193G>T p.C398F Substitution - Missense Large_intestine COSM740041 EYA4 c.619G>C p.G207R Substitution - Missense Lung COSM1363344 MBD6 c.2006delC p.P671fs*4 Deletion - Frameshift Prostate COSM691515 HCFC2 c.990G>T p.W330C Substitution - Missense Lung COSM41741 TET2 c.5618T>C p.I1873T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41741 TET2 c.5618T>C p.I1873T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM462450 ATRX c.? p.? Unknown Central_nervous_system COSM3428019 TET2 c.445G>T p.E149* Substitution - Nonsense Large_intestine COSM96394 ASXL1 c.1850_1851insA p.K618fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM956519 ARID4A c.43G>A p.D15N Substitution - Missense Endometrium COSM4385603 TET2 c.4311_4312insA p.R1440fs*38 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM749486 ATAD2 c.1525T>A p.S509T Substitution - Missense Lung COSM3757367 TRIM28 c.1170G>A p.K390K Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4031599 PHC2 c.116G>A p.R39H Substitution - Missense Stomach COSM1227877 STK31 c.2916C>A p.F972L Substitution - Missense Large_intestine COSM734379 GABRG1 c.1297C>G p.H433D Substitution - Missense Lung COSM219133 DNMT3A c.2245C>T p.R749C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5574203 KMT2D c.5923C>G p.L1975V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4148750 MGA c.7011G>T p.K2337N Substitution - Missense Thyroid COSM4099351 ADNP c.2345C>T p.T782I Substitution - Missense Stomach COSM5881457 KMT2C c.? p.A2456T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3811904 PRMT8 c.222T>G p.D74E Substitution - Missense Breast COSM1196200 EHMT2 c.2617C>T p.R873C Substitution - Missense Large_intestine COSM978479 PCGF2 c.17G>A p.R6Q Substitution - Missense Stomach COSM1245823 ATRX c.1011C>T p.G337G Substitution - coding silent Stomach COSM471948 CTCF c.1548C>T p.T516T Substitution - coding silent Upper_aerodigestive_tract COSM6005133 TAF1 c.2438G>A p.R813H Substitution - Missense Prostate COSM1071057 BRD9 c.1035C>T p.D345D Substitution - coding silent Stomach COSM5590744 ELP3 c.891C>T p.D297D Substitution - coding silent Skin COSM5970914 MPHOSPH8 c.1630A>C p.K544Q Substitution - Missense Upper_aerodigestive_tract COSM4029669 KDM1A c.1563A>G p.L521L Substitution - coding silent Stomach COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Central_nervous_system COSM88008 KMT2A c.2319G>A p.P773P Substitution - coding silent Central_nervous_system COSM96457 CREBBP c.6418C>T p.Q2140* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM221140 KMT2D c.15635_15636delTG p.V5212fs*7 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM166294 TET2 c.2797C>T p.Q933* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM186829 NIPBL c.5680C>T p.R1894C Substitution - Missense Large_intestine COSM219286 GABRG1 c.313A>C p.I105L Substitution - Missense Breast COSM212434 KDM6A c.3763C>T p.R1255W Substitution - Missense Breast COSM249142 DNMT3A c.2185C>T p.R729W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM240682 KMT2D c.11351_11365del15 p.P3785_A3789delPESMA Deletion - In frame Prostate COSM263650 SHPRH c.1288G>A p.E430K Substitution - Missense Large_intestine COSM283998 PHIP c.2390G>A p.R797H Substitution - Missense Large_intestine COSM300837 ACTL6B c.467C>T p.A156V Substitution - Missense Large_intestine COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Large_intestine COSM319438 CHD8 c.3863G>T p.R1288L Substitution - Missense Lung COSM348078 PRDM9 c.799C>G p.L267V Substitution - Missense Lung COSM357695 ARID1A c.5335G>A p.E1779K Substitution - Missense Lung COSM389210 KAT2A c.2457C>T p.S819S Substitution - coding silent Lung COSM456027 KDM4C c.84G>A p.E28E Substitution - coding silent Breast COSM467223 DPF2 c.795A>C p.G265G Substitution - coding silent Kidney COSM674521 PRMT6 c.752C>T p.S251L Substitution - Missense Lung COSM687756 PRMT3 c.1105G>A p.A369T Substitution - Missense Lung COSM942089 MBD6 c.1785T>C p.P595P Substitution - coding silent Endometrium COSM1048024 ATXN7 c.1635C>T p.C545C Substitution - coding silent Endometrium COSM1047106 PBRM1 c.224C>T p.A75V Substitution - Missense Endometrium COSM1023494 KDM3A c.956C>T p.T319I Substitution - Missense Endometrium COSM1030703 BRWD1 c.2660G>A p.R887Q Substitution - Missense Endometrium COSM1021291 MSH6 c.3039G>T p.K1013N Substitution - Missense Endometrium COSM746387 STK31 c.722C>A p.P241H Substitution - Missense Lung COSM753854 PHF2 c.304G>A p.E102K Substitution - Missense Lung COSM673780 ACTA1 c.656G>A p.C219Y Substitution - Missense Endometrium COSM734365 GABRG1 c.209C>T p.S70L Substitution - Missense Skin COSM731730 ATXN7 c.880T>C p.S294P Substitution - Missense Lung COSM1114771 SMARCA1 c.2867C>A p.T956N Substitution - Missense Endometrium COSM1109470 KIAA2026_ENST00000399933 c.2348A>G p.E783G Substitution - Missense Endometrium COSM1162368 KMT2C c.10765C>G p.L3589V Substitution - Missense Pancreas COSM1205369 EP300 c.4397G>T p.W1466L Substitution - Missense Large_intestine COSM1180098 KMT2C c.1005T>A p.P335P Substitution - coding silent Large_intestine COSM1188586 HCFC2 c.662A>G p.D221G Substitution - Missense Lung COSM1165812 MGA c.2877G>A p.L959L Substitution - coding silent Large_intestine COSM1169637 DNMT3A c.2502_2531del30 p.T835_K844del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM1287936 SIRT3 c.793G>T p.G265W Substitution - Missense Autonomic_ganglia COSM1419560 ZBTB38 c.3304A>C p.R1102R Substitution - coding silent Large_intestine COSM1411730 ACTR5 c.1134G>A p.A378A Substitution - coding silent Stomach COSM1468636 PHF8 c.78C>T p.C26C Substitution - coding silent Large_intestine COSM1437262 NIPBL c.1801delA p.K603fs*11 Deletion - Frameshift Pancreas COSM1443800 PHF1 c.10delC p.R6fs*2 Deletion - Frameshift Large_intestine COSM1357572 TRIM66 c.347C>T p.T116I Substitution - Missense Large_intestine COSM1640440 GTF3C1 c.767A>G p.D256G Substitution - Missense Stomach COSM1688026 BRDT c.544C>T p.P182S Substitution - Missense Skin COSM1716602 ATRX c.332_333AT>G p.N111fs*16 Complex - frameshift Central_nervous_system COSM1664110 SETD2 c.3340G>C p.A1114P Substitution - Missense Kidney COSM1663673 PRDM5 c.934G>A p.E312K Substitution - Missense Kidney COSM1745535 PRDM2 c.3670_3671insTTGAAAGC p.G1227fs*6 Insertion - Frameshift Urinary_tract COSM52823 PBRM1 c.3217delA p.I1073fs*86 Deletion - Frameshift Kidney COSM2030029 CHD8 c.4327C>T p.R1443C Substitution - Missense Large_intestine COSM2152856 NSD1 c.2905G>A p.G969R Substitution - Missense Central_nervous_system COSM2861116 JHDM1D c.2776G>C p.G926R Substitution - Missense Upper_aerodigestive_tract COSM3026275 STK31 c.370C>T p.R124* Substitution - Nonsense Skin COSM3124671 ZBTB38 c.2302G>A p.A768T Substitution - Missense Large_intestine COSM3096255 HDAC8 c.258C>T p.G86G Substitution - coding silent Oesophagus COSM3214123 BRD3 c.895C>T p.P299S Substitution - Missense Large_intestine COSM3203708 MECOM c.612C>T p.C204C Substitution - coding silent Upper_aerodigestive_tract COSM3349898 PHF1 c.734G>A p.R245Q Substitution - Missense Large_intestine COSM3383761 KDM2A c.307+1G>T p.? Unknown Pancreas COSM3413596 TAF1L c.1673G>T p.R558L Substitution - Missense Central_nervous_system COSM3398893 SMARCC2 c.483G>C p.K161N Substitution - Missense Central_nervous_system COSM3457113 HNF1A c.1738C>T p.P580S Substitution - Missense Skin COSM3619193 PRDM1 c.1347G>A p.R449R Substitution - coding silent Skin COSM3578954 SP100 c.239A>T p.D80V Substitution - Missense Skin COSM3557308 ZBTB33 c.1175C>T p.S392L Substitution - Missense Skin COSM3729666 SMYD4 c.1196A>C p.E399A Substitution - Missense Stomach COSM3758572 CHD6 c.6852G>A p.T2284T Substitution - coding silent Large_intestine COSM3807978 BTAF1 c.782C>A p.S261Y Substitution - Missense Breast COSM3818945 SMYD4 c.117C>G p.H39Q Substitution - Missense Breast COSM3857056 CHD1 c.3951T>G p.L1317L Substitution - coding silent Stomach COSM3861875 EHMT2 c.1896G>A p.L632L Substitution - coding silent Stomach COSM3859980 ARID1B c.3919C>T p.Q1307* Substitution - Nonsense Stomach COSM3909807 SP140_ENST00000392045 c.1611G>A p.A537A Substitution - coding silent Skin COSM3877915 SND1 c.1825G>A p.G609S Substitution - Missense Stomach COSM3957857 CDYL2 c.118G>C p.E40Q Substitution - Missense Lung COSM3953893 TRIM66 c.366G>C p.K122N Substitution - Missense Lung COSM4023069 ASH1L c.711G>A p.P237P Substitution - coding silent Stomach COSM3984514 TDRD5 c.2126G>T p.S709I Substitution - Missense Kidney COSM4055774 PYGO1 c.101G>A p.S34N Substitution - Missense Stomach COSM4162014 KMT2C c.2534G>A p.G845E Substitution - Missense Thyroid COSM4162319 ACTB c.703T>C p.S235P Substitution - Missense Thyroid COSM4170127 TET2 c.2474delC p.S825fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4560598 HDGFL1 c.84G>A p.R28R Substitution - coding silent Skin COSM4517746 SMCHD1 c.2447_2448CC>TT p.P816L Substitution - Missense Skin COSM4579171 CTCF c.1089C>T p.V363V Substitution - coding silent Bone COSM4555615 PHF10 c.397G>A p.E133K Substitution - Missense Skin COSM4545091 ZMYM4 c.36G>C p.K12N Substitution - Missense Skin COSM4689659 HDAC1 c.540T>C p.G180G Substitution - coding silent Large_intestine COSM4608453 KMT2D c.1417G>T p.E473* Substitution - Nonsense Adrenal_gland COSM4802779 BAZ2A c.3850C>T p.L1284L Substitution - coding silent Liver COSM4807458 DNMT3A c.1263C>T p.G421G Substitution - coding silent Pancreas COSM4885423 ASH1L c.2912C>T p.T971I Substitution - Missense Upper_aerodigestive_tract COSM4839798 KMT2D c.870T>G p.V290V Substitution - coding silent Cervix COSM4845472 PRMT5 c.1433C>T p.S478F Substitution - Missense Cervix COSM4997685 JHDM1D c.2514G>A p.Q838Q Substitution - coding silent Large_intestine COSM5050673 PRDM10 c.3419C>T p.T1140I Substitution - Missense Stomach COSM5165290 UBR7 c.960+4_960+7delAAGT p.? Unknown Large_intestine COSM5344494 SMARCC1 c.1406G>A p.R469H Substitution - Missense Large_intestine COSM5409824 PRDM14 c.459C>T p.P153P Substitution - coding silent Skin COSM5388128 SETBP1 c.2712C>T p.A904A Substitution - coding silent Skin COSM5365591 SMARCA4 c.2616+2T>C p.? Unknown Large_intestine COSM5461498 AIRE c.1095+6G>A p.? Unknown Large_intestine COSM5458225 TDRKH c.1346A>C p.K449T Substitution - Missense Large_intestine COSM5624419 TRIM28 c.1207G>A p.E403K Substitution - Missense Oesophagus COSM5642141 SMC1A c.1405C>T p.R469C Substitution - Missense Oesophagus COSM5627195 CHD2 c.4525A>G p.I1509V Substitution - Missense Oesophagus COSM5639842 CHD7 c.4859G>A p.R1620Q Substitution - Missense Oesophagus COSM5751472 CREBBP c.1527_1528insA p.A510fs*18 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5751675 SETD2 c.1030_1031insC p.F344fs*4 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5736879 WHSC1 c.3664_3666delAAG p.K1224delK Deletion - In frame Small_intestine COSM5722091 EP400 c.3451G>A p.E1151K Substitution - Missense Skin COSM5588825 RNF17 c.60G>A p.R20R Substitution - coding silent Skin COSM5621501 PHF12 c.250A>G p.N84D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5621599 PRDM2 c.763C>T p.R255* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5611030 TRRAP c.9270C>A p.A3090A Substitution - coding silent Skin COSM5673352 PRDM2 c.1141A>C p.I381L Substitution - Missense Soft_tissue COSM5835366 KMT2C c.5359_5360insT p.Q1787fs*18 Insertion - Frameshift Breast COSM5832010 EP400 c.8761_8762insT p.A2922fs*61 Insertion - Frameshift Breast COSM5812914 ARID1A c.2731A>T p.R911W Substitution - Missense Liver COSM5803848 CBX3 c.203A>G p.D68G Substitution - Missense Liver COSM5952649 L3MBTL4 c.1154G>A p.R385Q Substitution - Missense Oesophagus COSM5929159 WDR5 c.529-4C>T p.? Unknown Skin COSM5990924 CREBBP c.4649A>G p.E1550G Substitution - Missense Prostate COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM1169382 EZH2 c.? p.R690H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4169532 TET2 c.? p.Q684E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5881447 ARID1A c.? p.R1950Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1746620 EED c.484C>T p.L162L Substitution - coding silent Urinary_tract COSM4637268 ASH1L c.8288G>A p.C2763Y Substitution - Missense Large_intestine COSM4660680 AIRE c.1078delC p.P360fs*18 Deletion - Frameshift Large_intestine COSM3720979 BPTF c.3658C>T p.L1220L Substitution - coding silent Upper_aerodigestive_tract COSM4735436 TP53BP1 c.5273G>T p.S1758I Substitution - Missense Large_intestine COSM4778489 PBRM1 c.3823A>T p.K1275* Substitution - Nonsense Liver COSM4665047 BAHCC1 c.1969G>A p.G657S Substitution - Missense Large_intestine COSM3888515 CREBBP c.3840C>T p.F1280F Substitution - coding silent Skin COSM4413071 RAG2 c.882C>A p.D294E Substitution - Missense Oesophagus COSM4110213 PHF8 c.2284C>T p.L762L Substitution - coding silent Stomach COSM118019 CHD9 c.688C>T p.Q230* Substitution - Nonsense Ovary COSM22589 MEN1 c.1230C>A p.F410L Substitution - Missense Pituitary COSM249234 BRD4 c.2080A>T p.K694* Substitution - Nonsense Kidney COSM1047216 SFMBT1 c.1827C>T p.C609C Substitution - coding silent Stomach COSM937146 EP400 c.2285G>A p.R762H Substitution - Missense Endometrium COSM26005 KDM6A c.3930C>A p.L1310L Substitution - coding silent Kidney COSM3668614 TCF20 c.5278T>G p.S1760A Substitution - Missense Liver COSM313373 NSD1 c.6898G>A p.A2300T Substitution - Missense Lung COSM1180856 CBX8 c.942delC p.S315fs*41 Deletion - Frameshift Large_intestine COSM166128 NCOR1 c.3323_3324ins13 p.E1109fs*16 Insertion - Frameshift Breast COSM1128024 JMJD1C c.6894G>C p.E2298D Substitution - Missense Prostate COSM1223044 RAI1 c.2414C>T p.S805L Substitution - Missense Large_intestine COSM1716591 BAP1 c.1-?_122+?del p.? Unknown Pleura COSM87192 TET2 c.5885C>T p.P1962L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1989279 MBD6 c.2797G>A p.G933R Substitution - Missense Kidney COSM5708952 TET2 c.553C>T p.Q185* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1744862 BAP1 c.348_350delGGA p.K116_D117>N Complex - deletion inframe Biliary_tract COSM4603373 EP400 c.8156_8157insGCA p.Q2748_T2749insQ Insertion - In frame Large_intestine COSM1425753 SETD5_ENST00000402198 c.3853C>A p.P1285T Substitution - Missense Large_intestine COSM5437798 PRDM10 c.1705A>G p.T569A Substitution - Missense Oesophagus COSM3841925 BRWD1 c.2423G>T p.R808I Substitution - Missense Breast COSM3749667 MSH6 c.116G>A p.G39E Substitution - Missense Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3986927 ARID2 c.5062-1G>A p.? Unknown Skin COSM3639804 ACTB c.99C>T p.S33S Substitution - coding silent Skin COSM50405 MTA1 c.1427C>T p.T476M Substitution - Missense Breast COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM345546 BAP1 c.404C>G p.P135R Substitution - Missense Lung COSM3415079 ERCC6 c.3003C>T p.L1001L Substitution - coding silent Large_intestine COSM4767424 ARID2 c.1715+1G>A p.? Unknown Biliary_tract COSM4841600 SHPRH c.2917C>T p.P973S Substitution - Missense Cervix COSM5002357 BAZ1A c.4098T>A p.N1366K Substitution - Missense Pancreas COSM1444905 TDRD6 c.4550delA p.M1520fs*1 Deletion - Frameshift Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM988832 MBD1 c.1105C>T p.R369C Substitution - Missense Central_nervous_system COSM1056170 CLOCK c.859C>A p.L287M Substitution - Missense Endometrium COSM144706 PHF6 c.? p.Y105fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM5015683 ZGPAT c.1344C>A p.S448R Substitution - Missense Kidney COSM4778087 CHD1 c.622C>A p.Q208K Substitution - Missense Prostate COSM1747002 HDAC7 c.2690G>A p.C897Y Substitution - Missense Urinary_tract COSM5723824 TDRD6 c.5198G>T p.S1733I Substitution - Missense Skin COSM480298 BAP1 c.1A>G p.M1V Substitution - Missense Kidney COSM285644 TDRD7 c.3122G>A p.R1041Q Substitution - Missense Large_intestine COSM1131645 KMT2C c.2710C>T p.R904* Substitution - Nonsense Prostate COSM1210232 IDH2 c.743T>C p.M248T Substitution - Missense Large_intestine COSM4603590 KMT2C c.2448_2449insA p.I817fs*11 Insertion - Frameshift Upper_aerodigestive_tract COSM5998947 BTAF1 c.740G>A p.R247Q Substitution - Missense Prostate COSM1080050 CDYL c.912T>C p.S304S Substitution - coding silent Endometrium COSM3782159 ATAD2B_ENST00000238789 c.628C>T p.R210* Substitution - Nonsense Pancreas COSM1049102 MINA c.402G>A p.T134T Substitution - coding silent Endometrium COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3463548 BAZ2A c.919C>T p.P307S Substitution - Missense Skin COSM5722738 ASXL3 c.544G>A p.E182K Substitution - Missense Skin COSM4042322 KMT2D c.15619T>G p.C5207G Substitution - Missense Stomach COSM1220349 PHF16 c.620G>A p.R207Q Substitution - Missense Large_intestine COSM3488229 PRDM16 c.2278G>A p.D760N Substitution - Missense Skin COSM243224 BPTF c.2441G>T p.C814F Substitution - Missense Prostate COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM480853 PHF17 c.1046T>G p.M349R Substitution - Missense Kidney COSM3379652 SMC1A c.1377G>A p.L459L Substitution - coding silent Pancreas COSM1079889 TDRD6 c.2045A>G p.H682R Substitution - Missense Endometrium COSM750803 NCOA2 c.1151C>T p.P384L Substitution - Missense Lung COSM5956834 CHD3 c.5698G>A p.E1900K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3457521 SETD8 c.162C>T p.I54I Substitution - coding silent Skin COSM1034781 TCF20 c.695G>A p.G232D Substitution - Missense Endometrium COSM3092580 PHF8 c.128C>T p.A43V Substitution - Missense Large_intestine COSM3438393 ERCC6 c.170C>T p.S57F Substitution - Missense Skin COSM4098456 CHD6 c.3170A>G p.Y1057C Substitution - Missense Stomach COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Bone COSM5880270 SMYD3 c.910C>T p.P304S Substitution - Missense Skin COSM370969 KDM5C c.272A>T p.K91I Substitution - Missense Lung COSM3907604 UHRF2 c.1378A>T p.R460* Substitution - Nonsense Stomach COSM5351701 EZH2 c.1945G>T p.E649* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1186510 WHSC1 c.295C>T p.R99C Substitution - Missense Lung COSM1035380 HDAC10 c.818G>A p.G273E Substitution - Missense Endometrium COSM5723872 STK31 c.948G>A p.E316E Substitution - coding silent Skin COSM1098851 ELP3 c.559C>T p.R187* Substitution - Nonsense Endometrium COSM972478 CTCF c.781+1G>A p.? Unknown Endometrium COSM4096130 KDM3A c.2061C>T p.C687C Substitution - coding silent Stomach COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3583865 SMYD1 c.633C>T p.N211N Substitution - coding silent Skin COSM4694930 KDM3A c.1649G>A p.R550H Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1578126 ASXL1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM239172 CBX5 c.523C>T p.H175Y Substitution - Missense Prostate COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4950059 NCOA6 c.413_460del48 p.A138_M153del16 Deletion - In frame Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM548344 HDAC7 c.330C>A p.P110P Substitution - coding silent Soft_tissue COSM1476243 HNF1A c.863_864insC p.P289fs*28 Insertion - Frameshift Breast COSM5588884 SCML2 c.1724G>A p.R575Q Substitution - Missense Skin COSM917532 ZMYND11 c.1093G>T p.E365* Substitution - Nonsense Endometrium COSM3845404 ATRX c.2787G>C p.Q929H Substitution - Missense Breast COSM5516649 EP400 c.6896_6898delAGA p.K2301delK Deletion - In frame Biliary_tract COSM4169920 ARID1A c.598C>T p.Q200* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1169650 PBRM1 c.3620_3621insA p.M1209fs*11 Insertion - Frameshift Kidney COSM213323 PHF14 c.2755G>A p.D919N Substitution - Missense Breast COSM4496201 BAZ2B c.4700C>A p.P1567H Substitution - Missense Skin COSM1936619 BAZ2A c.1826G>A p.W609* Substitution - Nonsense Large_intestine COSM4968391 TAF1L c.3922C>A p.P1308T Substitution - Missense Adrenal_gland COSM1577226 MEN1 c.150_151insC p.N51fs*66 Insertion - Frameshift Parathyroid COSM2192910 ORC1 c.365G>A p.S122N Substitution - Missense Large_intestine COSM3510229 CHD9 c.2302T>C p.F768L Substitution - Missense Skin COSM2221843 TRIM66 c.1647G>A p.G549G Substitution - coding silent Liver COSM1662111 HDAC9 c.2312G>A p.G771E Substitution - Missense Kidney COSM3741944 CHD9 c.6165G>T p.E2055D Substitution - Missense Liver COSM1301879 SRCAP c.1885C>G p.L629V Substitution - Missense Urinary_tract COSM5027171 ZMYND11 c.1139C>T p.S380F Substitution - Missense Breast COSM5945883 KMT2D c.13966G>A p.A4656T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4500233 SETD1B c.2261C>T p.P754L Substitution - Missense Skin COSM5031123 MLL5 c.2645C>T p.S882L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM339664 ASXL3 c.2806A>T p.M936L Substitution - Missense Lung COSM4611662 PHF14 c.540delA p.K182fs*19 Deletion - Frameshift Large_intestine COSM4122630 PRMT10 c.493A>T p.I165F Substitution - Missense Stomach COSM1209344 HCFC1 c.823C>T p.R275C Substitution - Missense Large_intestine COSM51200 ASXL1 c.1888_1910del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4843280 KDM5A c.991C>A p.P331T Substitution - Missense Cervix COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4978221 PHIP c.1402G>T p.E468* Substitution - Nonsense Oesophagus COSM4404339 ASXL3 c.179T>G p.F60C Substitution - Missense Skin COSM4389911 CBX5 c.182A>T p.E61V Substitution - Missense Pancreas COSM480417 PBRM1 c.1302-1G>T p.? Unknown Kidney COSM717300 BAZ2B c.558A>G p.T186T Substitution - coding silent Lung COSM5364359 KAT2A c.2069A>G p.Y690C Substitution - Missense Large_intestine COSM5403156 NSD1 c.5004C>T p.Y1668Y Substitution - coding silent Skin COSM211943 NCOR1 c.6337C>G p.Q2113E Substitution - Missense Breast COSM4610687 BRWD1 c.2393G>A p.C798Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4953747 SETDB1 c.679G>A p.G227R Substitution - Missense Liver COSM3148809 DNMT1 c.1326C>A p.I442I Substitution - coding silent Large_intestine COSM160860 EYA1 c.746C>A p.T249K Substitution - Missense Breast COSM996185 SIRT2 c.94G>A p.A32T Substitution - Missense Endometrium COSM5826522 PHF2 c.2955_2956ins15 p.T996_S997insTPAST Insertion - In frame Large_intestine COSM5788263 NSD1 c.4966+6G>T p.? Unknown Breast COSM1461719 SMARCA2 c.2348C>T p.S783L Substitution - Missense Large_intestine COSM5996480 BAG6 c.305C>T p.T102M Substitution - Missense Prostate COSM1604306 PRDM10 c.2671A>G p.T891A Substitution - Missense Liver COSM4445638 CHD3 c.5590+9C>T p.? Unknown Skin COSM5004624 CBX8 c.662G>A p.G221D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4050624 BAZ1A c.2387C>T p.A796V Substitution - Missense Stomach COSM4432876 RERE c.3342G>A p.P1114P Substitution - coding silent Oesophagus COSM930224 MEN1 c.262G>A p.A88T Substitution - Missense Endometrium COSM436088 NCOR1 c.3823C>T p.R1275* Substitution - Nonsense Breast COSM1633266 SFMBT1 c.1517A>G p.Y506C Substitution - Missense Liver COSM1628607 ARID2 c.1120+8T>G p.? Unknown Liver COSM5640620 KMT2D c.15019G>T p.E5007* Substitution - Nonsense Oesophagus COSM3424379 MSL3 c.167T>G p.F56C Substitution - Missense Large_intestine COSM5581411 KAT2B c.284G>A p.G95E Substitution - Missense Skin COSM3458253 EP400 c.6045C>T p.S2015S Substitution - coding silent Skin COSM5561401 ZCWPW2 c.330A>G p.P110P Substitution - coding silent Prostate COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4092796 HDAC4 c.683C>T p.P228L Substitution - Missense Stomach COSM198796 PHF2 c.1468delA p.K492fs*6 Deletion - Frameshift Large_intestine COSM4591901 NCOR1 c.618+6T>A p.? Unknown Upper_aerodigestive_tract COSM4677502 DIDO1 c.4897G>A p.G1633S Substitution - Missense Large_intestine COSM383332 PRMT2 c.1128G>T p.M376I Substitution - Missense Lung COSM1583159 DNMT3A c.? p.R736A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4591901 NCOR1 c.618+6T>A p.? Unknown Upper_aerodigestive_tract COSM1222120 PRMT8 c.1015G>A p.V339I Substitution - Missense Large_intestine COSM1728870 TRIM33 c.493A>T p.I165F Substitution - Missense Liver COSM1348655 SIRT1 c.2024G>A p.S675N Substitution - Missense Large_intestine COSM4147102 KMT2D c.7444C>G p.P2482A Substitution - Missense Thyroid COSM685483 SFMBT2 c.2197A>G p.S733G Substitution - Missense Lung COSM1008161 BAZ2B c.2227C>T p.R743C Substitution - Missense Endometrium COSM3977557 EYA3 c.716C>T p.S239L Substitution - Missense Lung COSM166461 BPTF c.3983T>G p.V1328G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM730713 SETD2 c.3464C>T p.S1155L Substitution - Missense Lung COSM5978917 PRMT10 c.164C>T p.A55V Substitution - Missense Upper_aerodigestive_tract COSM5903681 MYST3 c.4118C>T p.S1373F Substitution - Missense Skin COSM465849 JMJD1C c.2126C>G p.S709C Substitution - Missense Kidney COSM3740307 PRDM15 c.2732T>C p.F911S Substitution - Missense Liver COSM3907051 KIAA1045 c.383T>A p.V128D Substitution - Missense Stomach COSM893293 PRMT6 c.441_442insT p.W149fs*>169 Insertion - Frameshift Endometrium COSM5585507 JMJD1C c.1559C>T p.P520L Substitution - Missense Skin COSM1716182 EZH2 c.? p.A692V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM993335 GATAD2A c.154C>T p.R52W Substitution - Missense Endometrium COSM3863719 TDRD5 c.88G>A p.E30K Substitution - Missense Skin COSM164777 TAF1L c.3754C>T p.R1252W Substitution - Missense Central_nervous_system COSM96421 EP300 c.1738C>T p.R580* Substitution - Nonsense Oesophagus COSM2813495 SMARCA4 c.500G>A p.R167Q Substitution - Missense Large_intestine COSM3467895 RNF17 c.1190G>A p.G397E Substitution - Missense Skin COSM3259626 EZH2 c.1996T>A p.Y666N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5662286 PRDM9 c.1503delC p.Q502fs*3 Deletion - Frameshift Soft_tissue COSM3751837 ERCC6 c.3289A>G p.M1097V Substitution - Missense Soft_tissue COSM3296240 MBD5 c.4315C>A p.R1439S Substitution - Missense Central_nervous_system COSM4383570 DNMT3A c.1415delA p.D472fs*179 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1116478 FMR1 c.1820C>T p.T607M Substitution - Missense Endometrium COSM3760136 SMARCC1 c.1845A>G p.K615K Substitution - coding silent Large_intestine COSM3069696 DHX30 c.389G>A p.R130Q Substitution - Missense Bone COSM5046338 TAF1L c.1995_1996insA p.A666fs*38 Insertion - Frameshift Oesophagus COSM235444 STK31 c.2451G>A p.L817L Substitution - coding silent Skin COSM2164488 MEN1 c.686G>A p.R229H Substitution - Missense Large_intestine COSM5388046 ASXL3 c.2128C>T p.P710S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5729596 PHF20 c.472T>G p.S158A Substitution - Missense Skin COSM4168150 EZH2 c.1672+5G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4031502 RBBP4 c.418A>G p.I140V Substitution - Missense Stomach COSM138155 PHF8 c.1626+1G>A p.? Unknown Skin COSM3729372 ARID1B c.2720C>T p.P907L Substitution - Missense Stomach COSM30361 KMT2D c.4640T>A p.L1547H Substitution - Missense Kidney COSM3655414 BRD3 c.241A>G p.M81V Substitution - Missense Skin COSM1310574 KDM3B c.4382A>G p.D1461G Substitution - Missense Urinary_tract COSM3710526 RBBP5 c.353G>A p.R118Q Substitution - Missense Upper_aerodigestive_tract COSM1357982 KDM4D c.271delA p.K93fs*4 Deletion - Frameshift Pancreas COSM3431924 TRRAP c.7246G>A p.E2416K Substitution - Missense Large_intestine COSM1476831 CHD4 c.3484C>T p.R1162W Substitution - Missense Endometrium COSM249137 DNMT3A c.2146G>A p.V716I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5683564 APOBEC1 c.173C>G p.T58S Substitution - Missense Soft_tissue COSM3715049 NSD1 c.5431C>T p.R1811* Substitution - Nonsense Upper_aerodigestive_tract COSM3777254 JARID2 c.608C>T p.S203L Substitution - Missense Urinary_tract COSM1978006 PRDM10 c.2440A>C p.M814L Substitution - Missense Large_intestine COSM1643598 WHSC1L1 c.1255delA p.T419fs*8 Deletion - Frameshift Large_intestine COSM5721935 KMT2D c.7901C>T p.P2634L Substitution - Missense Skin COSM945771 MPHOSPH8 c.2055C>T p.L685L Substitution - coding silent Endometrium COSM4591023 KMT2C c.871C>T p.L291F Substitution - Missense Upper_aerodigestive_tract COSM1026107 NCOA6 c.792G>A p.Q264Q Substitution - coding silent Large_intestine COSM2802635 KDM6B c.3626G>A p.R1209Q Substitution - Missense Liver COSM3375974 TRIM66 c.1599A>G p.Q533Q Substitution - coding silent Pancreas COSM4387453 BAP1 c.123-2A>T p.? Unknown Eye COSM2098293 CHD4 c.5326G>C p.E1776Q Substitution - Missense Urinary_tract COSM5550727 CHD1 c.2777C>T p.A926V Substitution - Missense Prostate COSM4775183 DNMT3A c.1670_1671delGC p.C557fs*20 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM251400 ARID1A c.3424C>T p.Q1142* Substitution - Nonsense Liver COSM3650741 EYA1 c.295C>T p.P99S Substitution - Missense Skin COSM1235026 PHF6 c.834+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53127 TET2 c.? p.C1193W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1161850 WHSC1 c.581G>T p.S194I Substitution - Missense Kidney COSM397320 ARID1B c.1973C>T p.S658F Substitution - Missense Lung COSM5186602 MTA1 c.1727delC p.T578fs*18 Deletion - Frameshift Large_intestine COSM933548 KDM4D c.1124G>T p.R375I Substitution - Missense Endometrium COSM2911501 NCOA1 c.4164A>G p.Q1388Q Substitution - coding silent Upper_aerodigestive_tract COSM88208 IDH1 c.299G>A p.R100Q Substitution - Missense Skin COSM4187893 CHD7 c.7988C>T p.A2663V Substitution - Missense Kidney COSM4666113 BRD4 c.541C>T p.R181C Substitution - Missense Large_intestine COSM969485 CCDC101 c.304G>A p.G102S Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5906247 TAF1 c.1821G>A p.M607I Substitution - Missense Skin COSM4166817 CHD2 c.1038C>T p.D346D Substitution - coding silent Pituitary COSM4972976 FTO c.118C>G p.Q40E Substitution - Missense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1447011 MLL5 c.2398_2399insA p.R802fs*8 Insertion - Frameshift Pancreas COSM5794393 CHD8 c.2302G>A p.D768N Substitution - Missense Breast COSM1264620 RSF1 c.948G>T p.K316N Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM110818 BAP1 c.1_2190del2190 p.0? Whole gene deletion Salivary_gland COSM96375 BAP1 c.354_354delC p.F118fs*69 Deletion - Frameshift Pleura COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5746731 BAZ1B c.1493T>C p.V498A Substitution - Missense Pancreas COSM464463 PHC2 c.1994G>A p.C665Y Substitution - Missense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5883584 ZMYND8 c.1090C>A p.Q364K Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1495696 TET2 c.1660C>T p.P554S Substitution - Missense Kidney COSM4789876 UTY c.922A>G p.I308V Substitution - Missense Liver COSM1382743 PCGF2 c.836_840delCAGCC p.P279fs*37 Deletion - Frameshift Large_intestine COSM3854566 PRDM9 c.563G>C p.G188A Substitution - Missense Stomach COSM1349990 HELLS c.2100G>A p.S700S Substitution - coding silent Large_intestine COSM4386240 KDM4D c.791T>A p.I264K Substitution - Missense Large_intestine COSM3957747 PRMT7 c.1569G>T p.E523D Substitution - Missense Pleura COSM3304340 KMT2C c.2895T>C p.S965S Substitution - coding silent Soft_tissue COSM53034 EZH2 c.949G>T p.E317* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM51224 ARID1A c.5202T>A p.Y1734* Substitution - Nonsense Ovary COSM3296318 EPC2 c.2298T>C p.S766S Substitution - coding silent Upper_aerodigestive_tract COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3919994 NIPBL c.3433C>T p.R1145C Substitution - Missense Skin COSM1314879 KDM4C c.2547G>A p.E849E Substitution - coding silent Urinary_tract COSM2002844 ATF7IP c.1915C>T p.L639F Substitution - Missense Large_intestine COSM99740 DNMT3A c.2645G>C p.R882P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3236950 BRD8 c.2328T>C p.I776I Substitution - coding silent Upper_aerodigestive_tract COSM52863 PBRM1 c.835delA p.I279fs*4 Deletion - Frameshift Kidney COSM5755594 ZMYND8 c.725A>C p.H242P Substitution - Missense Large_intestine COSM4167261 TET2 c.? p.C1221S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4447837 BAHCC1 c.2832C>T p.F944F Substitution - coding silent Skin COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM1034587 L3MBTL2 c.630G>T p.V210V Substitution - coding silent Endometrium COSM451292 RING1 c.1004A>G p.E335G Substitution - Missense Upper_aerodigestive_tract COSM3578967 SP100 c.2095G>A p.E699K Substitution - Missense Skin COSM4817315 CHD4 c.4061-1G>C p.? Unknown Cervix COSM227805 ZMYND11 c.881G>A p.R294Q Substitution - Missense Skin COSM3738495 TET2 c.? p.D551fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM5384765 SETD1A c.351C>T p.Y117Y Substitution - coding silent Skin COSM5890943 SRCAP c.3082C>T p.P1028S Substitution - Missense Skin COSM23055 MEN1 c.378G>A p.W126* Substitution - Nonsense Breast COSM110007 MECOM c.1841G>A p.G614E Substitution - Missense Skin COSM4621891 KAT6B c.4056A>T p.E1352D Substitution - Missense Large_intestine COSM1155725 ASXL1 c.? p.(K1302_K1303)L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5415141 TTF2 c.3401A>G p.K1134R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3801956 GATAD2B c.1428A>G p.E476E Substitution - coding silent Breast COSM12932 TAF1L c.2250G>T p.L750F Substitution - Missense Lung COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM51441 ARID1A c.5161C>T p.R1721* Substitution - Nonsense Endometrium COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM53010 EZH2 c.2199C>A p.Y733* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM87138 TET2 c.3893G>A p.C1298Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM115936 GATAD2A c.1009G>C p.G337R Substitution - Missense Ovary COSM100083 KMT2C c.10313G>A p.G3438D Substitution - Missense Large_intestine COSM119905 ATAD2 c.1744C>A p.P582T Substitution - Missense Ovary COSM121309 NIPBL c.7146C>T p.F2382F Substitution - coding silent Upper_aerodigestive_tract COSM213853 HAT1 c.502T>C p.C168R Substitution - Missense Breast COSM220395 TET2 c.2620C>G p.P874A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM222005 ZBTB38 c.3551A>G p.D1184G Substitution - Missense Skin COSM236752 HAT1 c.272A>T p.Y91F Substitution - Missense Prostate COSM227525 KMT2C c.2294A>G p.E765G Substitution - Missense Prostate COSM243049 ARID1B c.1159_1160insCGC p.P392_S393insP Insertion - In frame Prostate COSM242107 TTF2 c.2771G>A p.R924H Substitution - Missense Prostate COSM245966 NCOA3 c.3756G>A p.Q1252Q Substitution - coding silent Prostate COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Prostate COSM238935 BAHD1 c.1894G>A p.V632I Substitution - Missense Prostate COSM255005 KDM6A c.2959A>T p.K987* Substitution - Nonsense Urinary_tract COSM284932 SFMBT2 c.1092A>C p.K364N Substitution - Missense Large_intestine COSM287292 GLYR1 c.1140_1141insG p.R381fs*15 Insertion - Frameshift Large_intestine COSM297219 AICDA c.231C>T p.R77R Substitution - coding silent Large_intestine COSM306061 PHF6 c.821G>A p.R274Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM341088 NCOR1 c.1839G>A p.P613P Substitution - coding silent Lung COSM348655 PRMT8 c.377C>T p.S126F Substitution - Missense Lung COSM378700 SETBP1 c.3718C>G p.Q1240E Substitution - Missense Lung COSM373166 SMARCA5 c.1806C>G p.V602V Substitution - coding silent Lung COSM379083 CREBBP c.1133G>A p.R378Q Substitution - Missense Lung COSM404377 POGZ c.1955G>A p.C652Y Substitution - Missense Lung COSM423077 PBRM1 c.2031_2036delTCGCCG p.R678_R679delRR Deletion - In frame Kidney COSM426157 ZMYM4 c.1813T>G p.Y605D Substitution - Missense Breast COSM458080 ATRX c.1967C>T p.S656F Substitution - Missense Breast COSM458124 BRWD3 c.1771G>C p.D591H Substitution - Missense Breast COSM472348 NCOR1 c.2001T>C p.F667F Substitution - coding silent Kidney COSM981687 AKAP1 c.1837G>A p.E613K Substitution - Missense Endometrium COSM972503 CTCF c.1768G>T p.E590* Substitution - Nonsense Endometrium COSM487367 TAF1L c.5467G>T p.G1823W Substitution - Missense Lung COSM941743 BAZ2A c.3818T>G p.L1273R Substitution - Missense Endometrium COSM1023490 KDM3A c.561C>A p.D187E Substitution - Missense Upper_aerodigestive_tract COSM1692724 DHX30 c.1945G>A p.A649T Substitution - Missense Skin COSM734365 GABRG1 c.209C>T p.S70L Substitution - Missense Skin COSM727024 EP300 c.6375C>A p.H2125Q Substitution - Missense Lung COSM900305 TDRD5 c.2208T>C p.G736G Substitution - coding silent Endometrium COSM904641 LBR c.1240G>A p.A414T Substitution - Missense Urinary_tract COSM895837 POGZ c.1483C>T p.R495* Substitution - Nonsense Endometrium COSM948230 TDRD3 c.965G>A p.R322Q Substitution - Missense Stomach COSM1008170 BAZ2B c.377G>T p.G126V Substitution - Missense Endometrium COSM1067653 NIPBL c.1263G>A p.S421S Substitution - coding silent Endometrium COSM1038800 HDAC11 c.538C>A p.L180I Substitution - Missense Endometrium COSM1012895 DNMT3A c.2704_2706delTTC p.F902del Deletion - In frame Lung COSM1066187 NSD1 c.97G>A p.G33S Substitution - Missense Endometrium COSM971419 CHD9 c.2837A>C p.Q946P Substitution - Missense Endometrium COSM1109559 KDM4C c.173G>T p.R58I Substitution - Missense Upper_aerodigestive_tract COSM1123039 SMC1A c.578C>T p.A193V Substitution - Missense Endometrium COSM1117797 MECP2 c.870G>A p.E290E Substitution - coding silent Endometrium COSM1181747 ACTR6 c.995G>T p.R332L Substitution - Missense Large_intestine COSM1180742 HELLS c.1832_1833insA p.R614fs*33 Insertion - Frameshift Large_intestine COSM1262125 PHRF1 c.2546C>T p.S849F Substitution - Missense Oesophagus COSM1258627 KAT6B c.451C>T p.R151W Substitution - Missense Oesophagus COSM1169484 BAP1 c.239_239delT p.M80fs*7 Deletion - Frameshift Kidney COSM1604809 PHRF1 c.542A>G p.E181G Substitution - Missense Liver COSM1291648 PHC3 c.2219A>T p.D740V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1300091 RNF17 c.694G>C p.E232Q Substitution - Missense Oesophagus COSM1387362 SIRT7 c.952G>A p.V318I Substitution - Missense Large_intestine COSM1409881 SMYD1 c.719G>A p.G240D Substitution - Missense Large_intestine COSM1437316 NIPBL c.8221G>A p.A2741T Substitution - Missense Large_intestine COSM1466700 HCFC1 c.1293G>A p.Q431Q Substitution - coding silent Large_intestine COSM1569705 SMARCA1 c.608A>G p.N203S Substitution - Missense Liver COSM1569061 ASH2L c.1192C>T p.R398W Substitution - Missense Large_intestine COSM1607782 ARID4A c.1655+3A>G p.? Unknown Liver COSM1479897 BPTF c.810T>C p.F270F Substitution - coding silent Breast COSM1475340 SIRT3 c.490C>A p.L164M Substitution - Missense Breast COSM1638639 SFMBT2 c.367G>A p.V123I Substitution - Missense Stomach COSM1679017 SRCAP c.2304G>T p.Q768H Substitution - Missense Large_intestine COSM1659594 CHD1 c.184_187delTCAG p.E63fs*185 Deletion - Frameshift Kidney COSM1716731 ATRX c.6770_6783del14 p.L2257fs*7 Deletion - Frameshift Central_nervous_system COSM1716418 CTCF c.626_627delAG p.S210fs*19 Deletion - Frameshift Endometrium COSM1707920 MTA1 c.1246C>T p.L416F Substitution - Missense Skin COSM1753308 PBRM1 c.4488G>A p.R1496R Substitution - coding silent Urinary_tract COSM2035862 PHRF1 c.749C>T p.S250F Substitution - Missense Skin COSM2834867 CHD9 c.2881C>T p.R961C Substitution - Missense Large_intestine COSM3108917 GTF3C1 c.2348T>C p.V783A Substitution - Missense Large_intestine COSM3153235 EP300 c.6963_6964insC p.H2324fs*55 Insertion - Frameshift Large_intestine COSM3296115 MBD5 c.882G>A p.R294R Substitution - coding silent Upper_aerodigestive_tract COSM3353849 CDYL c.318C>T p.I106I Substitution - coding silent Large_intestine COSM3379186 BRWD1 c.4347G>T p.Q1449H Substitution - Missense Pancreas COSM3404065 LMNB2 c.214A>G p.I72V Substitution - Missense Central_nervous_system COSM3496556 ARID4A c.57G>A p.K19K Substitution - coding silent Skin COSM3501018 INOC1 c.83C>T p.A28V Substitution - Missense Skin COSM3446225 PRMT3 c.1316C>T p.T439I Substitution - Missense Skin COSM3630867 ACTL6B c.301G>A p.D101N Substitution - Missense Skin COSM3637032 HDAC9 c.1301C>T p.S434L Substitution - Missense Skin COSM3637565 STK31 c.2800G>A p.G934R Substitution - Missense Skin COSM3596280 SFMBT1 c.1215C>T p.T405T Substitution - coding silent Skin COSM3600779 PRMT10 c.232G>A p.D78N Substitution - Missense Skin COSM3561752 KDM6A c.3805C>T p.P1269S Substitution - Missense Skin COSM3519937 AKAP1 c.1574C>T p.S525L Substitution - Missense Skin COSM3657756 KDM4C c.1320G>A p.V440V Substitution - coding silent Skin COSM3647910 ELP3 c.931C>T p.R311C Substitution - Missense Skin COSM3665092 TP53BP1 c.2238G>A p.W746* Substitution - Nonsense Oesophagus COSM3697892 TDRD6 c.5578C>T p.L1860L Substitution - coding silent Large_intestine COSM3693968 SMARCB1 c.473G>A p.R158Q Substitution - Missense Large_intestine COSM3691897 KDM6B c.437G>A p.R146H Substitution - Missense Thyroid COSM3701887 ATRX c.1996C>T p.R666* Substitution - Nonsense Liver COSM3729641 GTF3C1 c.1000A>G p.K334E Substitution - Missense Large_intestine COSM3710310 SETDB1 c.700T>C p.F234L Substitution - Missense Upper_aerodigestive_tract COSM3768698 PHF20L1 c.83+3A>G p.? Unknown Liver COSM3804392 KDM1A c.2426C>G p.S809W Substitution - Missense Breast COSM3859839 JARID2 c.2110T>C p.Y704H Substitution - Missense Stomach COSM3831102 PHIP c.2375A>T p.N792I Substitution - Missense Breast COSM4010587 BRDT c.731C>A p.P244H Substitution - Missense Stomach COSM4034234 GLYATL1 c.974G>A p.C325Y Substitution - Missense Stomach COSM3984298 ASH1L c.136G>A p.E46K Substitution - Missense Kidney COSM3989424 BAHCC1 c.2557C>T p.P853S Substitution - Missense Kidney COSM4092247 SP110 c.25G>A p.E9K Substitution - Missense Stomach COSM4115542 FXR1 c.1364G>A p.R455H Substitution - Missense Stomach COSM4129609 NCOR1 c.568C>T p.R190* Substitution - Nonsense Upper_aerodigestive_tract COSM4161992 KMT2C c.10812G>A p.K3604K Substitution - coding silent Thyroid COSM4156642 FMR1 c.357A>C p.K119N Substitution - Missense Upper_aerodigestive_tract COSM4167538 SFMBT2 c.334G>A p.G112R Substitution - Missense Breast COSM4166139 TET2 c.5619_5619delT p.I1873fs*14 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4384058 NSD1 c.1906A>G p.I636V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4444149 ATAD2 c.834A>T p.E278D Substitution - Missense Large_intestine COSM4515956 KDM4B c.1448_1449CC>TT p.S483F Substitution - Missense Skin COSM4541643 SMARCC1 c.3043G>A p.G1015S Substitution - Missense Skin COSM4533665 MPHOSPH8 c.2002G>C p.E668Q Substitution - Missense Skin COSM4432637 KDM3A c.1778A>G p.N593S Substitution - Missense Oesophagus COSM4767440 ATRX c.7090C>T p.L2364F Substitution - Missense Biliary_tract COSM4725160 SETD2 c.1757G>A p.R586Q Substitution - Missense Large_intestine COSM4665177 BAP1 c.1497C>T p.I499I Substitution - coding silent Large_intestine COSM4629063 BRWD3 c.1191A>G p.E397E Substitution - coding silent Skin COSM4617165 MTA2 c.1923G>A p.T641T Substitution - coding silent Large_intestine COSM4644598 WHSC1 c.2521G>T p.G841W Substitution - Missense Large_intestine COSM4799861 RAG2 c.99A>G p.Q33Q Substitution - coding silent Liver COSM4901200 EP400 c.5835C>T p.N1945N Substitution - coding silent Skin COSM4949635 ARID1A c.31_56del26 p.S11fs*91 Deletion - Frameshift Liver COSM4952317 SMARCB1 c.276A>C p.K92N Substitution - Missense Liver COSM4958897 TDRD6 c.661G>A p.G221S Substitution - Missense Liver COSM4960400 RTF1 c.269G>A p.R90K Substitution - Missense Liver COSM4969952 KDM5C c.2332C>T p.R778* Substitution - Nonsense Pancreas COSM4971639 PHF17 c.697G>T p.A233S Substitution - Missense Central_nervous_system COSM5013863 ATAD2B_ENST00000238789 c.3249A>G p.I1083M Substitution - Missense Kidney COSM5019449 ERCC6 c.411G>A p.L137L Substitution - coding silent Soft_tissue COSM5044483 EPC1 c.224C>G p.P75R Substitution - Missense Kidney COSM5126216 PSIP1 c.158delT p.L53fs*1 Deletion - Frameshift Breast COSM5154441 ZMYM1 c.1467C>T p.S489S Substitution - coding silent Large_intestine COSM5353944 BAZ2B c.146-10delT p.? Unknown Large_intestine COSM5516622 MBD6 c.1988T>C p.L663P Substitution - Missense Biliary_tract COSM5487572 TIF1 c.2627G>T p.R876L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5429853 PRDM16 c.2378C>A p.S793* Substitution - Nonsense Oesophagus COSM5457887 PRDM8 c.195G>C p.K65N Substitution - Missense Large_intestine COSM5715829 ZMYM3 c.3450C>T p.N1150N Substitution - coding silent Skin COSM5730716 CHD8 c.3500A>G p.D1167G Substitution - Missense Breast COSM5712353 JARID2 c.85G>C p.V29L Substitution - Missense Central_nervous_system COSM5657023 PCGF6 c.86T>C p.V29A Substitution - Missense Skin COSM5666092 EYA4 c.371-3C>T p.? Unknown Soft_tissue COSM5713901 MYST3 c.5404G>A p.G1802R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5549924 CXXC1 c.1368C>T p.A456A Substitution - coding silent Prostate COSM5777380 LMNA c.973G>A p.D325N Substitution - Missense Breast COSM5785350 BRPF1 c.2030A>G p.K677R Substitution - Missense Breast COSM5878974 TET2 c.2482delT p.C828fs*13 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5803946 JMJD1C c.5818A>T p.S1940C Substitution - Missense Liver COSM5927256 SP100 c.1816C>T p.P606S Substitution - Missense Skin COSM5886537 KMT2C c.11947C>T p.Q3983* Substitution - Nonsense Skin COSM5990199 HNF1A c.614A>T p.K205M Substitution - Missense Liver COSM6005517 EP300 c.6390G>A p.M2130I Substitution - Missense Prostate COSM5968806 SETDB1 c.3555G>A p.V1185V Substitution - coding silent Upper_aerodigestive_tract COSM5985563 ASXL1 c.2594delA p.E865fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34201 MSH6 c.? p.? Unknown Endometrium COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM1169382 EZH2 c.? p.R690H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM132980 ASXL1 c.? p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Bone COSM41883 TET2 c.1516A>T p.R506* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM1666933 TET2 c.? p.T1007A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3784471 KDM1B c.629G>A p.R210H Substitution - Missense Pancreas COSM75924 PHF3 c.296A>G p.N99S Substitution - Missense Ovary COSM1186432 ZBTB38 c.1016C>G p.P339R Substitution - Missense Lung COSM5990919 HDAC4 c.2854+2T>G p.? Unknown Prostate COSM2188354 TP53BP1 c.115C>T p.H39Y Substitution - Missense Large_intestine COSM5019205 PBRM1 c.996-4delG p.? Unknown Soft_tissue COSM1238712 DNMT3B c.1183G>A p.A395T Substitution - Missense Oesophagus COSM4608193 ZMYM3 c.962G>A p.G321E Substitution - Missense Adrenal_gland COSM4995028 KAT5 c.668C>T p.S223L Substitution - Missense Upper_aerodigestive_tract COSM3712507 HDAC5 c.2327A>G p.Y776C Substitution - Missense Upper_aerodigestive_tract COSM125329 PHC3 c.1790C>T p.S597F Substitution - Missense Upper_aerodigestive_tract COSM30428 KMT2D c.12706C>T p.P4236S Substitution - Missense Skin COSM211643 TET2 c.3782G>A p.R1261H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3859866 JARID2 c.3688C>T p.P1230S Substitution - Missense Stomach COSM230133 KMT2C c.1173C>A p.C391* Substitution - Nonsense Soft_tissue COSM481349 CLOCK c.1539+2T>C p.? Unknown Kidney COSM1123041 SMC1A c.533C>T p.A178V Substitution - Missense Endometrium COSM249136 DNMT3A c.1685G>A p.C562Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4824462 KMT2C c.1767G>C p.K589N Substitution - Missense Cervix COSM4588769 TAF1L c.3367A>G p.I1123V Substitution - Missense Bone COSM1493631 SRCAP c.8984C>G p.T2995S Substitution - Missense Kidney COSM218910 KMT2C c.12507_12508delAT p.F4170fs*11 Deletion - Frameshift Pancreas COSM5789387 HDAC9 c.730C>A p.P244T Substitution - Missense Breast COSM5377564 SETDB1 c.9C>T p.S3S Substitution - coding silent Skin COSM1267588 TDRD6 c.841G>A p.E281K Substitution - Missense Skin COSM3357401 MECP2 c.622C>A p.Q208K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5067886 CHD7 c.8955_8956insG p.D2988fs*2 Insertion - Frameshift Large_intestine COSM1602215 HDAC1 c.49+1G>C p.? Unknown Liver COSM303361 TDRD6 c.4467C>A p.T1489T Substitution - coding silent Central_nervous_system COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM249685 NCOR1 c.448G>A p.G150R Substitution - Missense Upper_aerodigestive_tract COSM3487584 ARID1A c.3961C>T p.P1321S Substitution - Missense Skin COSM5058254 HAT1 c.244A>G p.S82G Substitution - Missense Stomach COSM4903351 EP400 c.8918T>C p.V2973A Substitution - Missense Skin COSM5611412 TRRAP c.4149_4150GG>AA p.E1384K Substitution - Missense Skin COSM1057 SMARCB1 c.1148delC p.P383fs*>3 Deletion - Frameshift Central_nervous_system COSM222053 PRDM9 c.1119G>A p.W373* Substitution - Nonsense Skin COSM4590120 KDM4B c.2128A>G p.K710E Substitution - Missense Upper_aerodigestive_tract COSM1319617 SMARCA2 c.2257C>T p.L753F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1018653 ATAD2B_ENST00000238789 c.2444C>G p.S815* Substitution - Nonsense Endometrium COSM296120 PRDM9 c.1855C>T p.R619W Substitution - Missense Ovary COSM1307867 DNMT3L c.77C>G p.S26* Substitution - Nonsense Urinary_tract COSM144626 PHF6 c.955C>T p.R319* Substitution - Nonsense Stomach COSM2192895 ORC1 c.886delA p.T296fs*21 Deletion - Frameshift Large_intestine COSM3875090 PHF3 c.5262T>A p.F1754L Substitution - Missense Stomach COSM3596195 PBRM1 c.1134C>T p.S378S Substitution - coding silent Skin COSM5358032 PHF14 c.1636G>A p.A546T Substitution - Missense Large_intestine COSM220293 KDM4C c.2380A>G p.T794A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4713975 PHF20 c.2173G>A p.A725T Substitution - Missense Large_intestine COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1746864 ATF7IP c.3198T>A p.T1066T Substitution - coding silent Urinary_tract COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5405449 TDRD6 c.808C>T p.R270C Substitution - Missense Skin COSM1230635 TRRAP c.3656C>T p.T1219M Substitution - Missense Large_intestine COSM3378378 KDM6B c.2547G>A p.P849P Substitution - coding silent Biliary_tract COSM3963202 SMYD1 c.679A>T p.M227L Substitution - Missense Lung COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5769134 TDRD1 c.1669C>G p.Q557E Substitution - Missense Breast COSM2245992 ARID4A c.1230T>C p.V410V Substitution - coding silent Large_intestine COSM4068645 SMARCD2 c.263T>C p.V88A Substitution - Missense Stomach COSM5342366 ZMYM1 c.2527G>A p.A843T Substitution - Missense Large_intestine COSM3387385 SRCAP c.2864T>A p.V955D Substitution - Missense Pancreas COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Central_nervous_system COSM3928345 EHMT2 c.1193G>A p.G398E Substitution - Missense Central_nervous_system COSM5971162 METTL21D c.98A>G p.Y33C Substitution - Missense Upper_aerodigestive_tract COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1348078 ERCC6 c.1955G>A p.R652Q Substitution - Missense Large_intestine COSM4010187 RERE c.2819C>T p.P940L Substitution - Missense Stomach COSM4465036 KMT2D c.12831C>T p.A4277A Substitution - coding silent Skin COSM5573950 KMT2D c.1584_1585insC p.S529fs*5 Insertion - Frameshift Prostate COSM4547695 PRDM15 c.4299G>A p.P1433P Substitution - coding silent Skin COSM477719 KDM3A c.3639T>C p.Y1213Y Substitution - coding silent Kidney COSM1125879 BRWD3 c.1127G>A p.S376N Substitution - Missense Endometrium COSM5635105 GTF3C1 c.26A>G p.D9G Substitution - Missense Oesophagus COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Large_intestine COSM2952696 TET2 c.679_680insA p.T229fs*25 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM431213 KMT2D c.5050G>C p.D1684H Substitution - Missense Breast COSM3750192 PHF2 c.2964G>T p.P988P Substitution - coding silent Thyroid COSM1187092 PHIP c.1712A>G p.N571S Substitution - Missense Lung COSM1184404 BAHD1 c.514C>T p.R172W Substitution - Missense Large_intestine COSM3376714 VPS72 c.574C>T p.R192W Substitution - Missense Pancreas COSM377622 SETD2 c.5737C>G p.Q1913E Substitution - Missense Lung COSM1349791 BTAF1 c.431G>A p.R144H Substitution - Missense Large_intestine COSM1738263 TAF1 c.4325G>A p.R1442Q Substitution - Missense Ovary COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4823449 GTF3C1 c.75G>C p.W25C Substitution - Missense Cervix COSM5593231 SP140_ENST00000392045 c.1859G>A p.G620E Substitution - Missense Skin COSM1183251 APOBEC1 c.223G>A p.D75N Substitution - Missense Skin COSM4059655 GTF3C1 c.3205G>A p.D1069N Substitution - Missense Stomach COSM4949522 CHD7 c.4353G>C p.G1451G Substitution - coding silent Liver COSM5094765 CREBBP c.1040_1041delAT p.D347fs*2 Deletion - Frameshift Thymus COSM1134968 TDRD1 c.766A>T p.R256* Substitution - Nonsense Kidney COSM4022247 POGZ c.1374C>T p.G458G Substitution - coding silent Stomach COSM996182 SIRT2 c.457C>T p.R153C Substitution - Missense Endometrium COSM424058 ASH1L c.8223C>T p.L2741L Substitution - coding silent Breast COSM5945714 IDH2 c.424A>C p.I142L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144704 PHF6 c.? p.H43fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4384865 CREBBP c.6364C>T p.Q2122* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4168679 KMT2D c.14812G>A p.V4938M Substitution - Missense Stomach COSM5879105 EZH2 c.312delT p.A105fs*5 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1623349 TRRAP c.1536A>C p.P512P Substitution - coding silent Liver COSM4163509 BRD3 c.702G>A p.P234P Substitution - coding silent Thyroid COSM4071911 ASXL3 c.2413A>C p.T805P Substitution - Missense Stomach COSM2874534 PRDM14 c.594G>A p.T198T Substitution - coding silent Oesophagus COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5507373 APOBEC1 c.656C>T p.P219L Substitution - Missense Biliary_tract COSM2818170 BRWD1 c.3919delA p.S1307fs*19 Deletion - Frameshift Large_intestine COSM1018613 HDAC4 c.2874G>T p.K958N Substitution - Missense Endometrium COSM3452409 SUV420H1 c.2427G>A p.L809L Substitution - coding silent Skin COSM1680157 SIRT7 c.644C>T p.A215V Substitution - Missense Large_intestine COSM4825854 SMEK1 c.355G>C p.E119Q Substitution - Missense Cervix COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3578911 SP140_ENST00000392045 c.2007G>A p.R669R Substitution - coding silent Skin COSM4889842 MBD1 c.823G>A p.D275N Substitution - Missense Upper_aerodigestive_tract COSM4799044 SHPRH c.2363A>G p.N788S Substitution - Missense Liver COSM4144507 PWWP2B c.900G>T p.E300D Substitution - Missense Thyroid COSM1076386 KDM1B c.1426G>A p.V476M Substitution - Missense Endometrium COSM4041993 ARID2 c.4328G>A p.S1443N Substitution - Missense Stomach COSM88808 TET2 c.? p.G1288D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM295027 KDM2A c.2422A>G p.K808E Substitution - Missense Large_intestine COSM1682287 EP300 c.4066C>T p.R1356* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4749524 CHD3 c.4265A>G p.N1422S Substitution - Missense Stomach COSM4580012 BPTF c.8214G>A p.K2738K Substitution - coding silent Bone COSM241837 TAF3 c.1461_1462insC p.N488fs*23 Insertion - Frameshift Prostate COSM5411850 MSL3 c.238C>T p.R80C Substitution - Missense Skin COSM3691375 NCOR1 c.3406G>A p.A1136T Substitution - Missense Large_intestine COSM1727361 NSD1 c.2465C>T p.S822F Substitution - Missense Liver COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM240280 JMJD1C c.4292A>G p.Y1431C Substitution - Missense Prostate COSM1377846 CREBBP c.3493T>C p.W1165R Substitution - Missense Large_intestine COSM4771726 SRCAP c.7489_7490insG p.P2497fs*46 Insertion - Frameshift Stomach COSM5570309 NCOA1 c.2165C>A p.T722N Substitution - Missense Prostate COSM52907 PBRM1 c.3712_3733del22 p.F1238fs*24 Deletion - Frameshift Kidney COSM445987 TBL1XR1 c.422_423delTA p.I141fs*3 Deletion - Frameshift Prostate COSM1713460 ACTR5 c.1222A>G p.S408G Substitution - Missense Skin COSM1696224 KDM3B c.4888C>T p.R1630* Substitution - Nonsense Skin COSM4895822 TP53BP1 c.1003C>T p.P335S Substitution - Missense Skin COSM743358 PHF3 c.4514C>G p.S1505* Substitution - Nonsense Lung COSM1363747 CHD4 c.3822T>C p.N1274N Substitution - coding silent Large_intestine COSM6004489 PCNA c.579A>C p.E193D Substitution - Missense Prostate COSM52778 PBRM1 c.4499C>G p.S1500* Substitution - Nonsense Kidney COSM431586 MBD6 c.2662C>T p.R888* Substitution - Nonsense Skin COSM221160 KMT2D c.9518G>TA p.S3173fs Complex Haematopoietic_and_lymphoid_tissue COSM4843573 ATF7IP c.2663C>T p.S888F Substitution - Missense Cervix COSM5920559 TDG c.1039G>A p.G347R Substitution - Missense Skin COSM4697160 L3MBTL3 c.168A>G p.K56K Substitution - coding silent Large_intestine COSM1214801 MECOM c.928G>A p.G310S Substitution - Missense Large_intestine COSM3667364 ASH1L c.4053G>A p.G1351G Substitution - coding silent Liver COSM80391 PRDM16 c.1953C>T p.G651G Substitution - coding silent Ovary COSM1333462 PRDM2 c.4665G>A p.Q1555Q Substitution - coding silent Large_intestine COSM140059 INOC1 c.781C>T p.P261S Substitution - Missense Skin COSM4050624 BAZ1A c.2387C>T p.A796V Substitution - Missense Skin COSM1047221 SFMBT1 c.1428G>A p.S476S Substitution - coding silent Endometrium COSM416888 PYGO1 c.284A>G p.Y95C Substitution - Missense Urinary_tract COSM3932816 AP001011.3_ENST00000320876 c.2122G>A p.V708I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3822595 LMNB2 c.1466A>G p.E489G Substitution - Missense Breast COSM1436283 NSD1 c.6430G>A p.A2144T Substitution - Missense Stomach COSM5384993 FTO c.754C>T p.P252S Substitution - Missense Skin COSM213721 SUV420H1 c.2627G>C p.R876T Substitution - Missense Breast COSM3460985 ARID2 c.5042C>T p.S1681F Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM920528 KAT6B c.2068G>A p.E690K Substitution - Missense Endometrium COSM5752819 CREBBP c.3623_3624insC p.Q1209fs*25 Insertion - Frameshift Breast COSM1735242 ZMYM3 c.143delC p.P48fs*65 Deletion - Frameshift Large_intestine COSM4468601 PRDM16 c.1551C>T p.I517I Substitution - coding silent Skin COSM4480017 HDAC1 c.237C>T p.I79I Substitution - coding silent Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2810406 ASXL3 c.2695C>T p.P899S Substitution - Missense Skin COSM5812901 KAT6B c.4726A>T p.T1576S Substitution - Missense Liver COSM5430246 SCML2 c.1665G>C p.L555F Substitution - Missense Oesophagus COSM4387423 BAP1 c.133G>A p.G45R Substitution - Missense Eye COSM5610604 SMARCA2 c.4589C>T p.S1530F Substitution - Missense Skin COSM4165974 TRIM66 c.2553-7G>A p.? Unknown Kidney COSM3932913 BRD4 c.668A>C p.H223P Substitution - Missense Urinary_tract COSM4850992 C5orf35 c.185C>T p.A62V Substitution - Missense Cervix COSM2140812 CHD2 c.192G>A p.S64S Substitution - coding silent Biliary_tract COSM88014 TAF1L c.390G>T p.L130F Substitution - Missense Central_nervous_system COSM956525 ARID4A c.1169G>A p.R390K Substitution - Missense Endometrium COSM2961689 MYST3 c.4183G>A p.D1395N Substitution - Missense Large_intestine COSM21486 HNF1A c.872delC p.P291fs*51 Deletion - Frameshift Large_intestine COSM742333 DAXX c.305C>T p.S102L Substitution - Missense Lung COSM969268 GTF3C1 c.1093G>A p.E365K Substitution - Missense Endometrium COSM1169197 HDAC6 c.144G>A p.A48A Substitution - coding silent Pancreas COSM3791466 RAG2 c.1044G>C p.L348F Substitution - Missense Urinary_tract COSM5520012 EP300 c.3591-7C>T p.? Unknown Biliary_tract COSM4394334 CHD7 c.4989C>T p.F1663F Substitution - coding silent Skin COSM4706980 NIPBL c.4263_4264insT p.V1424fs*6 Insertion - Frameshift Breast COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM5977636 ATRX c.3193G>T p.E1065* Substitution - Nonsense Central_nervous_system COSM1754402 PRDM1 c.137C>G p.S46C Substitution - Missense Urinary_tract COSM5902934 TAF1L c.5221G>A p.D1741N Substitution - Missense Skin COSM1641363 EYA2 c.1436-6G>A p.? Unknown Stomach COSM5887518 NCOA6 c.4726C>T p.P1576S Substitution - Missense Skin COSM5024885 ARID1B c.49G>C p.A17P Substitution - Missense Breast COSM4170103 TET2 c.4285delT p.F1429fs*19 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1356360 KDM2A c.2495delC p.R834fs*3 Deletion - Frameshift Large_intestine COSM1672250 JARID2 c.2960C>T p.P987L Substitution - Missense Large_intestine COSM3703175 KMT2C c.14534+5G>T p.? Unknown Liver COSM5701170 PHF2 c.2962_2963ins15 p.P988_A989insCLHHT Insertion - In frame Soft_tissue COSM4443315 KDM6B c.539T>C p.L180P Substitution - Missense Large_intestine COSM5800225 JMJD1C c.1945A>G p.N649D Substitution - Missense Breast COSM1738286 HDAC9 c.1757G>A p.R586H Substitution - Missense Ovary COSM1945470 PRDM4 c.907C>T p.L303F Substitution - Missense Bone COSM4961032 EYA1 c.701C>T p.P234L Substitution - Missense Liver COSM2810334 ASXL3 c.1464G>A p.P488P Substitution - coding silent Pleura COSM1118764 SCML2 c.980C>A p.S327Y Substitution - Missense Endometrium COSM5946761 KMT2D c.9301C>T p.Q3101* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5757631 KMT2D c.9811G>T p.A3271S Substitution - Missense Eye COSM4570178 CHD3 c.2240T>C p.L747P Substitution - Missense Skin COSM5751432 CREBBP c.1108C>CT p.R370fs*57 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM3731812 BPTF c.8058A>C p.S2686S Substitution - coding silent Stomach COSM5926953 CHD3 c.793+5G>A p.? Unknown Skin COSM5458847 DIDO1 c.5065G>A p.A1689T Substitution - Missense Large_intestine COSM4002210 BRD1 c.1212C>T p.V404V Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4065905 PCGF2 c.281G>A p.R94Q Substitution - Missense Stomach COSM961525 MGA c.6322G>T p.D2108Y Substitution - Missense Endometrium COSM4067501 MYST2 c.925C>A p.L309I Substitution - Missense Stomach COSM4653122 DPF1 c.539G>A p.R180Q Substitution - Missense Large_intestine COSM111693 KAT6B c.3289_3291delGAA p.E1097delE Deletion - In frame Soft_tissue COSM416329 TDRD3 c.166G>T p.V56F Substitution - Missense Urinary_tract COSM5612385 TDRD6 c.3211T>G p.Y1071D Substitution - Missense Adrenal_gland COSM4499179 BPTF c.4991C>T p.S1664F Substitution - Missense Skin COSM4487523 PHF2 c.319C>T p.R107C Substitution - Missense Skin COSM3989663 SMARCA4 c.2646A>T p.E882D Substitution - Missense Kidney COSM4113232 RUVBL1 c.908A>G p.E303G Substitution - Missense Stomach COSM5956027 ZGPAT c.370G>C p.E124Q Substitution - Missense Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM110781 TET2 c.987_988insT p.E330fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1205421 EPC1 c.595C>T p.R199* Substitution - Nonsense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4596765 SMARCB1 c.1130G>T p.R377L Substitution - Missense Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1667289 ARID1A c.4367C>T p.P1456L Substitution - Missense Skin COSM5899330 DIDO1 c.4159C>T p.P1387S Substitution - Missense Skin COSM182663 KAT2B c.2045G>A p.R682Q Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4791862 AICDA c.468A>T p.E156D Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM459143 ARID4A c.3324C>T p.S1108S Substitution - coding silent Cervix COSM393983 NCOA3 c.52C>T p.R18C Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1727249 ZMYND11 c.245A>G p.Y82C Substitution - Missense Liver COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1610276 EZH1 c.390C>T p.C130C Substitution - coding silent Liver COSM3948488 SETD1A c.3802C>T p.L1268L Substitution - coding silent Ovary COSM5788984 MYST2 c.508C>T p.P170S Substitution - Missense Breast COSM1082842 ZCWPW1 c.72A>C p.Q24H Substitution - Missense Endometrium COSM373856 PRDM14 c.635G>T p.S212I Substitution - Missense Lung COSM253321 ASXL1 c.? p.R634fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM239942 GABRG1 c.214C>A p.L72I Substitution - Missense Prostate COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM4634066 GTF3C1 c.2484A>G p.E828E Substitution - coding silent Large_intestine COSM3501002 INOC1 c.2597C>T p.P866L Substitution - Missense Skin COSM1188110 PHRF1 c.3524G>A p.R1175K Substitution - Missense Lung COSM720750 DNMT3A c.558G>T p.P186P Substitution - coding silent Lung COSM335837 SMARCA4 c.991C>T p.Q331* Substitution - Nonsense Ovary COSM924941 PRDM10 c.3125C>T p.T1042M Substitution - Missense Endometrium COSM4167432 KMT2C c.370G>A p.G124S Substitution - Missense Central_nervous_system COSM4713948 PHF16 c.49C>A p.P17T Substitution - Missense Large_intestine COSM3341235 NSD1 c.6595C>T p.R2199C Substitution - Missense Large_intestine COSM4065085 PHF12 c.2707G>A p.E903K Substitution - Missense Stomach COSM932764 TRIM66 c.1662C>T p.I554I Substitution - coding silent Endometrium COSM1716588 BAP1 c.1891-?_2056+?del p.? Unknown Pleura COSM245759 MPHOSPH8 c.1842C>T p.D614D Substitution - coding silent Prostate COSM900306 TDRD5 c.2344-1G>T p.? Unknown Endometrium COSM344127 ATF7IP c.424G>T p.G142* Substitution - Nonsense Lung COSM229173 TDRD1 c.2078C>T p.P693L Substitution - Missense Skin COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Endometrium COSM3474966 ASH1L c.4412C>T p.P1471L Substitution - Missense Skin COSM5019110 MECOM c.2472G>A p.S824S Substitution - coding silent Soft_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Liver COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1078 SMARCB1 c.153G>A p.W51* Substitution - Nonsense Central_nervous_system COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Large_intestine COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM106795 DNMT3L c.714C>T p.F238F Substitution - coding silent Pancreas COSM88774 CREBBP c.3059A>T p.E1020V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96442 EP300 c.4401_4402insA p.M1470fs*3 Insertion - Frameshift Large_intestine COSM127503 ATAT1 c.414A>G p.E138E Substitution - coding silent Upper_aerodigestive_tract COSM136615 TRRAP c.3043C>T p.R1015W Substitution - Missense Skin COSM133732 DNMT3A c.2312G>A p.R771Q Substitution - Missense Lung COSM221188 NCOA7 c.1053G>T p.L351F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM185219 MYST1 c.292C>T p.R98W Substitution - Missense Stomach COSM219145 TET2 c.3323_3323delC p.P1108fs*5 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM255003 KDM6A c.3517T>A p.Y1173N Substitution - Missense Urinary_tract COSM286072 TTF2 c.489C>T p.F163F Substitution - coding silent Large_intestine COSM297759 KDM6B c.1955delC p.Q654fs*46 Deletion - Frameshift Large_intestine COSM289591 KMT2A c.2016C>T p.T672T Substitution - coding silent Large_intestine COSM315440 SMC1A c.2563-1G>A p.? Unknown Lung COSM397994 APOBEC1 c.619A>G p.R207G Substitution - Missense Lung COSM436964 AKAP1 c.790G>C p.A264P Substitution - Missense Breast COSM479509 ZBTB38 c.1368G>A p.G456G Substitution - coding silent Kidney COSM486473 MYST3 c.985C>T p.R329W Substitution - Missense Kidney COSM480330 PBRM1 c.3154C>T p.R1052* Substitution - Nonsense Central_nervous_system COSM5702517 BAP1 c.524C>G p.P175R Substitution - Missense Eye COSM675759 ASH1L c.7499A>G p.Y2500C Substitution - Missense Lung COSM1031763 PRMT2 c.280G>A p.E94K Substitution - Missense Endometrium COSM939300 KDM5A c.1790A>C p.Q597P Substitution - Missense Endometrium COSM939509 ARID2 c.3913C>T p.P1305S Substitution - Missense Endometrium COSM1031234 DNMT3L c.726C>T p.Y242Y Substitution - coding silent Pancreas COSM1019235 DNMT3A c.1976G>A p.R659H Substitution - Missense Endometrium COSM703628 GLYR1 c.1053C>T p.I351I Substitution - coding silent Lung COSM732615 PHF17 c.146G>T p.R49M Substitution - Missense Lung COSM720798 NCOA1 c.1800C>G p.N600K Substitution - Missense Lung COSM990730 CARM1 c.1825T>C p.*609Q Nonstop extension Endometrium COSM990750 SMARCA4 c.2758G>A p.E920K Substitution - Missense Stomach COSM1067671 NIPBL c.3440G>A p.R1147Q Substitution - Missense Endometrium COSM1045658 SMARCC1 c.1847G>T p.G616V Substitution - Missense Endometrium COSM969255 GTF3C1 c.3314A>G p.D1105G Substitution - Missense Endometrium COSM970540 CREBBP c.6871C>A p.L2291M Substitution - Missense Endometrium COSM1125843 BRWD3 c.3052G>T p.E1018* Substitution - Nonsense Endometrium COSM1103006 TDRD7 c.1486G>C p.D496H Substitution - Missense Skin COSM1107177 EHMT1 c.1777G>A p.A593T Substitution - Missense Endometrium COSM1100791 CHD7 c.2478C>A p.F826L Substitution - Missense Endometrium COSM1100834 CHD7 c.5428C>T p.R1810* Substitution - Nonsense Prostate COSM1095750 ATAD2 c.2657C>A p.S886* Substitution - Nonsense Endometrium COSM1243529 PRDM16 c.2394C>T p.G798G Substitution - coding silent Breast COSM5766187 ATRX c.1219C>G p.L407V Substitution - Missense Central_nervous_system COSM1247999 CDYL2 c.904G>A p.A302T Substitution - Missense Stomach COSM1196588 PHF17 c.41A>G p.D14G Substitution - Missense Lung COSM1195721 BAZ2A c.1283C>T p.A428V Substitution - Missense Lung COSM1203011 DAXX c.917G>A p.R306Q Substitution - Missense Large_intestine COSM1583136 DNMT3A c.2644C>G p.R882G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1180079 KMT2A c.4087-1G>A p.? Unknown Prostate COSM1334938 HDGF c.149_150insT p.G51fs*63 Insertion - Frameshift Large_intestine COSM1378322 CHD9 c.7288delA p.R2432fs*8 Deletion - Frameshift Prostate COSM1444082 BRPF3 c.2555delC p.P854fs*6 Deletion - Frameshift Large_intestine COSM1462011 TAF1L c.1994_1995insA p.A666fs*38 Insertion - Frameshift Large_intestine COSM1363776 CHD4 c.417G>T p.E139D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1347139 TRDMT1 c.791A>G p.N264S Substitution - Missense Large_intestine COSM1364342 APOBEC1 c.207delA p.K69fs*12 Deletion - Frameshift Large_intestine COSM1563043 UBR7 c.465C>T p.C155C Substitution - coding silent Large_intestine COSM1495070 ZMYND8 c.1348C>T p.P450S Substitution - Missense Kidney COSM1636171 KIAA1045 c.996T>C p.P332P Substitution - coding silent Liver COSM1637772 ZMYM3 c.1287C>T p.H429H Substitution - coding silent Bone COSM1639900 DMAP1 c.687G>A p.Q229Q Substitution - coding silent Stomach COSM1721521 ASXL3 c.607G>A p.E203K Substitution - Missense Skin COSM2006881 KMT2D c.10331G>A p.R3444K Substitution - Missense Stomach COSM2145532 ERCC6 c.560delA p.K187fs*18 Deletion - Frameshift Pancreas COSM2095589 TDRD5 c.2746C>T p.R916C Substitution - Missense Stomach COSM2931064 DIDO1 c.6161C>T p.A2054V Substitution - Missense Stomach COSM2965600 PHF16 c.951G>A p.L317L Substitution - coding silent Thyroid COSM3113592 SETD1A c.4935C>T p.I1645I Substitution - coding silent Large_intestine COSM3304590 KMT2C c.1082C>T p.T361I Substitution - Missense Breast COSM3296309 EPC2 c.2109C>T p.T703T Substitution - coding silent Upper_aerodigestive_tract COSM3356562 ARID1A c.220C>T p.Q74* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3362627 DNMT1 c.887A>G p.K296R Substitution - Missense Kidney COSM3483232 SMYD2 c.626G>A p.C209Y Substitution - Missense Skin COSM3487587 ARID1A c.5239C>T p.P1747S Substitution - Missense Skin COSM3490657 ORC1 c.2153A>G p.D718G Substitution - Missense Skin COSM3488862 ZMYM6 c.743C>T p.P248L Substitution - Missense Skin COSM3501103 MGA c.4988C>T p.P1663L Substitution - Missense Skin COSM3637061 HDAC9 c.1818C>T p.H606H Substitution - coding silent Skin COSM3623162 HDGFL1 c.189G>A p.K63K Substitution - coding silent Skin COSM3639806 ACTB c.77C>T p.A26V Substitution - Missense Skin COSM3630730 ZCWPW1 c.1429C>T p.R477C Substitution - Missense Skin COSM3596174 PBRM1 c.3808A>C p.K1270Q Substitution - Missense Skin COSM3548774 DIDO1 c.5544C>T p.P1848P Substitution - coding silent Skin COSM3664209 BRD3 c.599C>T p.P200L Substitution - Missense Liver COSM3648804 ASH2L c.401C>T p.S134L Substitution - Missense Skin COSM3687997 KDM2B c.746G>A p.R249Q Substitution - Missense Large_intestine COSM3714616 SETD5_ENST00000402198 c.1079T>C p.V360A Substitution - Missense Upper_aerodigestive_tract COSM3736245 SP100 c.46T>C p.C16R Substitution - Missense Skin COSM3775230 BAP1 c.1891G>C p.E631Q Substitution - Missense Urinary_tract COSM3775237 PBRM1 c.3784A>G p.N1262D Substitution - Missense Urinary_tract COSM3799041 MSH6 c.2067C>G p.F689L Substitution - Missense Oesophagus COSM3806034 RERE c.96T>G p.S32R Substitution - Missense Breast COSM3921880 TDRD6 c.2636C>T p.A879V Substitution - Missense Skin COSM3903659 PHF19 c.1642C>T p.R548W Substitution - Missense Stomach COSM3947392 PRDM9 c.1032C>A p.C344* Substitution - Nonsense Lung COSM3948417 GTF3C1 c.2911A>T p.R971W Substitution - Missense Ovary COSM4005062 SCML2 c.1789G>T p.E597* Substitution - Nonsense Urinary_tract COSM4058039 CHD2 c.4434C>T p.P1478P Substitution - coding silent Stomach COSM4129213 CTCF c.41A>G p.E14G Substitution - Missense Thyroid COSM4143992 KDM4A c.1445C>A p.A482E Substitution - Missense Biliary_tract COSM4152465 SMARCC1 c.433A>T p.M145L Substitution - Missense Kidney COSM4162022 KMT2C c.1131A>T p.P377P Substitution - coding silent Thyroid COSM4170053 TET2 c.4954C>T p.Q1652* Substitution - Nonsense Pancreas COSM4386736 EP400 c.7521A>C p.P2507P Substitution - coding silent Lung COSM4424611 KDM6A c.2162delC p.S721fs*1 Deletion - Frameshift Oesophagus COSM4572760 BRDT c.840T>C p.L280L Substitution - coding silent Skin COSM4512202 KMT2A c.8948C>T p.P2983L Substitution - Missense Skin COSM4578216 MGA c.4980T>G p.A1660A Substitution - coding silent Bone COSM4529948 PRDM14 c.1656G>A p.G552G Substitution - coding silent Skin COSM4422536 CHD6 c.6621C>A p.I2207I Substitution - coding silent Kidney COSM4410937 BAP1 c.553G>A p.G185R Substitution - Missense Kidney COSM4725168 SETD5_ENST00000402198 c.900G>T p.E300D Substitution - Missense Large_intestine COSM4736049 TRIM33 c.2132delC p.P711fs*7 Deletion - Frameshift Large_intestine COSM4713891 PHC1 c.2221T>A p.F741I Substitution - Missense Large_intestine COSM4663266 ARID2 c.666_668delAGA p.E224delE Deletion - In frame Large_intestine COSM4669570 CBX5 c.396C>A p.S132S Substitution - coding silent Large_intestine COSM4612692 EP300 c.4564_4565insTGGAAG p.Q1522>LEE Complex - insertion inframe Large_intestine COSM4643066 JARID2 c.3500G>A p.R1167H Substitution - Missense Large_intestine COSM4651785 EPC1 c.2480C>T p.A827V Substitution - Missense Large_intestine COSM4654578 UTY c.2848C>T p.Q950* Substitution - Nonsense Large_intestine COSM4755693 SMEK2 c.505G>A p.E169K Substitution - Missense Stomach COSM4795709 EP400 c.5219C>T p.A1740V Substitution - Missense Liver COSM4802669 ARID1B c.6584C>A p.S2195* Substitution - Nonsense Liver COSM4894215 MYST3 c.4397C>T p.P1466L Substitution - Missense Skin COSM4909142 KMT2C c.1050G>A p.P350P Substitution - coding silent Large_intestine COSM4940739 ERCC6 c.2084G>T p.G695V Substitution - Missense Liver COSM4939027 C5orf35 c.93C>T p.N31N Substitution - coding silent Liver COSM4915142 WHSC1 c.2824G>T p.G942W Substitution - Missense Liver COSM4829739 SMC1A c.2382A>C p.E794D Substitution - Missense Cervix COSM4960320 TDRD10 c.590G>A p.G197E Substitution - Missense Liver COSM4950298 DNMT1 c.844G>T p.D282Y Substitution - Missense Liver COSM4991200 DNMT1 c.2188C>T p.R730C Substitution - Missense Skin COSM5059768 DHX30 c.160A>C p.K54Q Substitution - Missense Stomach COSM5075570 SETD2 c.3305A>G p.Y1102C Substitution - Missense Kidney COSM5041339 CREBBP c.2068G>C p.A690P Substitution - Missense Liver COSM5039895 TDRD1 c.2084G>A p.G695D Substitution - Missense Liver COSM5368355 SETBP1 c.4483G>T p.V1495L Substitution - Missense Lung COSM5408350 TRRAP c.1497C>T p.S499S Substitution - coding silent Skin COSM5404528 SHPRH c.1365A>G p.G455G Substitution - coding silent Skin COSM5375813 CHD4 c.5199T>C p.H1733H Substitution - coding silent Skin COSM5389239 DOT1L c.3570C>T p.G1190G Substitution - coding silent Skin COSM5494620 MEAF6 c.597+7A>G p.? Unknown Biliary_tract COSM5495989 BRD1 c.2380C>G p.L794V Substitution - Missense Biliary_tract COSM5638396 BRWD3 c.5200G>A p.D1734N Substitution - Missense Oesophagus COSM5646511 PRDM16 c.98G>C p.S33T Substitution - Missense Oesophagus COSM5635128 MUM1 c.830C>T p.P277L Substitution - Missense Oesophagus COSM5751150 PHF6 c.385_386insT p.R129fs*9 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5722492 CDYL2 c.62G>A p.G21E Substitution - Missense Skin COSM5611347 PBRM1 c.4703_4704GG>AA p.R1568Q Substitution - Missense Skin COSM5582707 TAF1L c.3218C>T p.S1073F Substitution - Missense Skin COSM5749469 SIRT1 c.1091-2A>G p.? Unknown Genital_tract COSM5707671 EP300 c.1022A>C p.Q341P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5762941 SMC1A c.674T>G p.L225R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5772453 PHC3 c.481-3C>T p.? Unknown Breast COSM5786048 MTF2 c.116C>T p.A39V Substitution - Missense Breast COSM5879678 ASXL1 c.4116_4117delTT p.F1373fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5811728 SIRT3 c.173G>A p.G58D Substitution - Missense Liver COSM6001656 PYGO1 c.1143C>G p.L381L Substitution - coding silent Prostate COSM5996707 ARID1B c.5480G>A p.R1827H Substitution - Missense Prostate COSM5974403 TCF20 c.3088C>A p.P1030T Substitution - Missense Upper_aerodigestive_tract COSM5995013 BRPF1 c.1853C>T p.T618M Substitution - Missense Prostate COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51384 IDH1 c.? p.R132L Substitution - Missense Central_nervous_system COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716774 TET2 c.? p.F1104fs*2 Frameshift Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1666676 SETBP1 c.? p.I871T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM1716571 BAP1 c.1891-?_2190+?del p.? Unknown Pleura COSM1714702 SCML2 c.1714G>A p.D572N Substitution - Missense Skin COSM5393773 TCF20 c.2182C>T p.P728S Substitution - Missense Skin COSM4729243 SP100 c.2629G>A p.D877N Substitution - Missense Large_intestine COSM1583080 DNMT3A c.1698_1700delGGT p.V567del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM314668 RAG2 c.1496delA p.K499fs*4 Deletion - Frameshift Large_intestine COSM1978343 RAG2 c.367C>T p.R123C Substitution - Missense Skin COSM1704964 CHD4 c.4262G>A p.R1421Q Substitution - Missense Skin COSM1051861 PRMT10 c.668A>C p.N223T Substitution - Missense Endometrium COSM3876902 MLL5 c.1655A>C p.K552T Substitution - Missense Stomach COSM5415259 MSH6 c.1292A>C p.K431T Substitution - Missense Endometrium COSM100058 TET2 c.4333C>T p.Q1445* Substitution - Nonsense Upper_aerodigestive_tract COSM3174079 EYA4 c.375T>A p.I125I Substitution - coding silent Large_intestine COSM5449680 HDAC4 c.2393G>A p.R798H Substitution - Missense Large_intestine COSM5021041 BAP1 c.1552C>T p.R518W Substitution - Missense Soft_tissue COSM88612 NIPBL c.862C>A p.P288T Substitution - Missense Ovary COSM1322300 MTA2 c.694-1G>C p.? Unknown Ovary COSM1026708 ACTR5 c.1808C>T p.A603V Substitution - Missense Endometrium COSM4059642 GTF3C1 c.4914G>A p.A1638A Substitution - coding silent Stomach COSM4817469 KIAA2026_ENST00000399933 c.291C>T p.L97L Substitution - coding silent Cervix COSM267253 PRDM9 c.1759C>T p.R587W Substitution - Missense Central_nervous_system COSM933545 KDM4D c.367C>T p.R123* Substitution - Nonsense Endometrium COSM2813607 SMARCA4 c.2184G>A p.L728L Substitution - coding silent Large_intestine COSM697535 CHD8 c.2679G>T p.L893L Substitution - coding silent Lung COSM87011 DNMT3A c.2141C>G p.S714C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1066242 NSD1 c.3484C>T p.R1162C Substitution - Missense Endometrium COSM4169311 SMARCA4 c.? p.L361fs*50 Unknown Biliary_tract COSM5024617 UHRF2 c.1668G>C p.W556C Substitution - Missense Large_intestine COSM5945231 KDM5A c.3146C>T p.A1049V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3737469 PRDM2 c.4239G>C p.S1413S Substitution - coding silent Soft_tissue COSM1643264 JHDM1D c.2696C>T p.S899L Substitution - Missense Stomach COSM1391076 BRD4 c.1957G>T p.E653* Substitution - Nonsense Large_intestine COSM4682157 EZH2 c.1608C>A p.D536E Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1179107 KMT2C c.851G>A p.R284Q Substitution - Missense Soft_tissue COSM4742916 ZMYM3 c.2173C>T p.R725C Substitution - Missense Large_intestine COSM3724470 ARID1A c.4555_4556insC p.Q1519fs*13 Insertion - Frameshift Large_intestine COSM4797776 BRPF3 c.1003G>A p.A335T Substitution - Missense Liver COSM5599706 ING1 c.542C>T p.A181V Substitution - Missense Skin COSM41296 IDH2 c.? p.R172W Substitution - Missense Bone COSM3940551 DHX30 c.3522A>T p.L1174L Substitution - coding silent Oesophagus COSM5053434 ZMYM4 c.2235A>G p.S745S Substitution - coding silent Stomach COSM4586612 EHMT2 c.1972G>A p.V658M Substitution - Missense Bone COSM1617674 SETD2 c.3809G>T p.R1270L Substitution - Missense Liver COSM1757210 TRRAP c.7009A>G p.I2337V Substitution - Missense Urinary_tract COSM4680503 EHMT2 c.2355delG p.W786fs*15 Deletion - Frameshift Large_intestine COSM971438 CHD9 c.8146C>T p.L2716L Substitution - coding silent Endometrium COSM6018602 ATRX c.4434G>A p.K1478K Substitution - coding silent Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM4611948 PWWP2B c.558delC p.P188fs*129 Deletion - Frameshift Large_intestine COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM241694 SMARCA2 c.304C>G p.P102A Substitution - Missense Prostate COSM1187941 ERCC6 c.3842T>C p.L1281P Substitution - Missense Lung COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1735693 KMT2D c.? p.P808Q Substitution - Missense Skin COSM302648 KMT2D c.14272G>T p.D4758Y Substitution - Missense Central_nervous_system COSM1679859 HDAC5 c.3263C>T p.A1088V Substitution - Missense Large_intestine COSM1341884 PRDM16 c.1852A>G p.T618A Substitution - Missense Large_intestine COSM5479024 CHD2 c.2317G>T p.E773* Substitution - Nonsense Large_intestine COSM3769518 ALKBH1 c.450C>T p.F150F Substitution - coding silent Pancreas COSM1085175 SND1 c.139C>T p.R47W Substitution - Missense Endometrium COSM1091570 BAZ1B c.957G>T p.K319N Substitution - Missense Endometrium COSM3962508 SP140 c.424G>T p.A142S Substitution - Missense Lung COSM5606042 SETD5_ENST00000402198 c.3556C>T p.R1186* Substitution - Nonsense Skin COSM5017004 KAT2A c.2401A>G p.I801V Substitution - Missense Kidney COSM1255501 KDM6A c.4176+1G>A p.? Unknown Oesophagus COSM468038 EP400 c.8229G>A p.Q2743Q Substitution - coding silent Prostate COSM4819395 CHD4 c.2256G>C p.E752D Substitution - Missense Cervix COSM2804916 BAHCC1 c.675C>T p.G225G Substitution - coding silent Large_intestine COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Central_nervous_system COSM4590719 KAT2A c.1583C>T p.S528F Substitution - Missense Upper_aerodigestive_tract COSM4006957 NCOA2 c.2063A>G p.K688R Substitution - Missense Urinary_tract COSM21190 TAF1 c.1951G>A p.E651K Substitution - Missense Skin COSM4396124 CREBBP c.798G>A p.K266K Substitution - coding silent Skin COSM1581246 KMT2C c.6965T>C p.V2322A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5560316 HDAC11 c.696T>C p.D232D Substitution - coding silent Prostate COSM5781374 ACTA1 c.697G>T p.A233S Substitution - Missense Breast COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM251142 SMARCA1 c.478G>A p.E160K Substitution - Missense Liver COSM243231 BRD7 c.199A>G p.K67E Substitution - Missense Prostate COSM913246 BRDT c.2352G>A p.T784T Substitution - coding silent Endometrium COSM382943 KMT2C c.2403T>G p.P801P Substitution - coding silent Lung COSM374920 ARID1A c.5578G>T p.E1860* Substitution - Nonsense Lung COSM5347569 KDM6A c.2185_2198del14 p.E729fs*6 Deletion - Frameshift Liver COSM5551884 L3MBTL4 c.693T>C p.D231D Substitution - coding silent Prostate COSM4611398 ZMYM2 c.3124delA p.K1044fs*33 Deletion - Frameshift Large_intestine COSM5031022 KDM6A c.?_?delA p.?fs Deletion - Frameshift Central_nervous_system COSM243166 BAP1 c.508T>G p.F170V Substitution - Missense Liver COSM4824711 KDM5C c.3847G>A p.E1283K Substitution - Missense Cervix COSM4926757 MBD1 c.1300C>A p.H434N Substitution - Missense Liver COSM5665331 SND1 c.2183A>T p.Y728F Substitution - Missense Soft_tissue COSM1458053 PRDM14 c.1513C>T p.R505C Substitution - Missense Skin COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM2996465 PRMT7 c.261C>A p.A87A Substitution - coding silent Large_intestine COSM4080203 KDM4B c.19G>A p.G7S Substitution - Missense Stomach COSM4186138 PHIP c.1937T>C p.M646T Substitution - Missense Kidney COSM1180337 TRRAP c.8219A>G p.E2740G Substitution - Missense Prostate COSM6015340 SETDB2 c.1058G>A p.R353Q Substitution - Missense Skin COSM363480 ATRX c.7054G>T p.D2352Y Substitution - Missense Lung COSM320763 HCFC1 c.5439G>T p.W1813C Substitution - Missense Lung COSM4099102 NCOA3 c.2891G>A p.R964Q Substitution - Missense Large_intestine COSM1194437 L3MBTL2 c.1991C>G p.P664R Substitution - Missense Lung COSM485784 TRRAP c.1096A>G p.T366A Substitution - Missense Kidney COSM4385121 ASXL1 c.3121G>A p.A1041T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1026309 PHF20 c.1581G>T p.K527N Substitution - Missense Endometrium COSM982730 SMARCD2 c.415C>T p.R139W Substitution - Missense Stomach COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM694699 ING4 c.505G>C p.E169Q Substitution - Missense Lung COSM937158 EP400 c.3633C>T p.I1211I Substitution - coding silent Endometrium COSM4528810 SP110 c.1547G>A p.R516Q Substitution - Missense Skin COSM2818170 BRWD1 c.3919delA p.S1307fs*19 Deletion - Frameshift Large_intestine COSM158724 GATAD2B c.535C>T p.R179* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4492873 MBD5 c.4054C>T p.P1352S Substitution - Missense Skin COSM1333119 TTF2 c.3391_3392insA p.K1134fs*22 Insertion - Frameshift Large_intestine COSM5498184 CHD2 c.2908G>A p.A970T Substitution - Missense Biliary_tract COSM330378 SUV420H2 c.642A>G p.T214T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1101417 NCOA2 c.2356A>G p.T786A Substitution - Missense Endometrium COSM3460331 PRMT8 c.500G>A p.G167D Substitution - Missense Skin COSM4555497 SUV420H2 c.657G>A p.E219E Substitution - coding silent Skin COSM4585727 NSD1 c.7696A>G p.T2566A Substitution - Missense Bone COSM1717427 ARID1A c.? p.W2091* Substitution - Nonsense Biliary_tract COSM1747745 TDRKH c.1560C>T p.L520L Substitution - coding silent Urinary_tract COSM5377604 POGZ c.337C>T p.P113S Substitution - Missense Skin COSM4949544 ATRX c.4531G>C p.E1511Q Substitution - Missense Liver COSM4015924 KAT6B c.4862C>T p.A1621V Substitution - Missense Stomach COSM4528650 TDRD1 c.1553G>A p.R518Q Substitution - Missense Skin COSM1752922 HDAC11 c.608T>A p.V203D Substitution - Missense Urinary_tract COSM1695615 NIPBL c.1839G>T p.M613I Substitution - Missense Skin COSM4146853 EP400 c.6646A>C p.T2216P Substitution - Missense Upper_aerodigestive_tract COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5923647 PHF7 c.1049C>T p.S350F Substitution - Missense Skin COSM3769696 SMARCD1 c.648G>T p.L216L Substitution - coding silent Soft_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5017382 DIDO1 c.4928_4929insC p.A1645fs*35 Insertion - Frameshift Soft_tissue COSM49155 EZH2 c.2025C>A p.N675K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3463530 BAZ2A c.3219C>T p.C1073C Substitution - coding silent Skin COSM3912110 BRWD1 c.920C>T p.S307F Substitution - Missense Skin COSM166446 ASXL1 c.4243C>T p.R1415* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1465246 ZBTB33 c.563_564insTGA p.D194_V195insD Insertion - In frame Upper_aerodigestive_tract COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM325481 HDAC7 c.1129C>T p.R377C Substitution - Missense Lung COSM5641107 NCOR1 c.6177C>T p.I2059I Substitution - coding silent Oesophagus COSM4966564 MBD3 c.500-1G>A p.? Unknown Prostate COSM1378308 CHD9 c.1219G>A p.E407K Substitution - Missense Stomach COSM5941197 ACTR8 c.1666C>T p.L556F Substitution - Missense Skin COSM5009621 EP300 c.2989A>G p.I997V Substitution - Missense Large_intestine COSM5028830 PHF21B c.1275C>G p.V425V Substitution - coding silent Breast COSM5792612 POGZ c.1926+6A>G p.? Unknown Breast COSM4072247 SETBP1 c.3180G>A p.M1060I Substitution - Missense Stomach COSM5757633 KMT2D c.4789G>A p.G1597S Substitution - Missense Eye COSM5455701 TDRD7 c.2460T>C p.F820F Substitution - coding silent Large_intestine COSM4508765 ZCWPW1 c.783C>T p.F261F Substitution - coding silent Skin COSM5428098 EED c.211G>T p.G71* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5398119 MBD4 c.447G>A p.R149R Substitution - coding silent Skin COSM4422520 RNF17 c.1589+6A>G p.? Unknown Kidney COSM1447272 PHF14 c.644G>A p.R215Q Substitution - Missense Large_intestine COSM488578 TAF1 c.3146G>A p.R1049H Substitution - Missense Oesophagus COSM4120575 SETD5_ENST00000402198 c.829A>G p.T277A Substitution - Missense Stomach COSM3353149 TDRD6 c.5858G>A p.R1953H Substitution - Missense Stomach COSM1625749 RBBP7 c.142T>C p.W48R Substitution - Missense Liver COSM1400334 BAZ2B c.5842C>A p.L1948I Substitution - Missense Large_intestine COSM687268 PRDM10 c.1467G>A p.E489E Substitution - coding silent Lung COSM5906922 APOBEC1 c.292C>G p.Q98E Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3880297 STK31 c.1879G>A p.D627N Substitution - Missense Stomach COSM4010189 RERE c.2131A>G p.T711A Substitution - Missense Stomach COSM1569293 TAF1L c.2617C>T p.R873C Substitution - Missense Liver COSM3942418 TRRAP c.9285G>A p.L3095L Substitution - coding silent Oesophagus COSM4651916 SIRT3 c.1150C>A p.R384R Substitution - coding silent Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM357352 FXR1 c.29G>T p.G10V Substitution - Missense Lung COSM5232994 KMT2D c.12101C>T p.P4034L Substitution - Missense Lung COSM4613324 KDM5A c.3276delA p.V1093fs*1 Deletion - Frameshift Large_intestine COSM4584415 DHX30 c.1995C>A p.R665R Substitution - coding silent Bone COSM42084 TET2 c.1924C>T p.Q642* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5762879 EZH2 c.1087_1088insACGG p.L363fs*5 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1048016 ATXN7 c.1371C>T p.G457G Substitution - coding silent Endometrium COSM5885054 SMC1A c.229C>T p.R77W Substitution - Missense Large_intestine COSM970548 CREBBP c.6281C>T p.P2094L Substitution - Missense Endometrium COSM5722287 INOC1 c.2013C>T p.F671F Substitution - coding silent Skin COSM4383914 TET2 c.3715_3716delTC p.L1240fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5015177 ZMYM2 c.1409G>A p.C470Y Substitution - Missense Kidney COSM4916059 SMNDC1 c.6A>G p.S2S Substitution - coding silent Liver COSM5516054 PYGO1 c.718G>T p.D240Y Substitution - Missense Biliary_tract COSM1109429 KIAA2026_ENST00000399933 c.5483C>T p.S1828F Substitution - Missense Endometrium COSM173074 KMT2C c.11035G>A p.E3679K Substitution - Missense Kidney COSM5634295 SETD1A c.365A>T p.E122V Substitution - Missense Oesophagus COSM1721015 ZBTB38 c.1448_1449CC>TT p.S483F Substitution - Missense Skin COSM3878495 TIF1 c.2893G>A p.E965K Substitution - Missense Stomach COSM5564287 ARID1B c.3634A>C p.R1212R Substitution - coding silent Prostate COSM3528443 SMARCA4 c.4403C>T p.A1468V Substitution - Missense Skin COSM1040961 MECOM c.2672A>G p.E891G Substitution - Missense Endometrium COSM5730758 KMT2D c.2692delG p.E898fs*41 Deletion - Frameshift Breast COSM4432506 CHD3 c.1289delG p.E431fs*53 Deletion - Frameshift Oesophagus COSM5001526 GLYR1 c.1132delA p.R378fs*23 Deletion - Frameshift Pancreas COSM4817690 KDM2B c.444C>G p.L148L Substitution - coding silent Cervix COSM1099903 MYST3 c.5226C>T p.G1742G Substitution - coding silent Endometrium COSM5722574 NCOR1 c.3450C>T p.T1150T Substitution - coding silent Skin COSM482576 NSD1 c.6576C>T p.F2192F Substitution - coding silent Kidney COSM1019245 DNMT3A c.542G>A p.R181H Substitution - Missense Endometrium COSM3782591 PRDM10 c.1491G>A p.T497T Substitution - coding silent Prostate COSM2252223 UBR7 c.292C>T p.R98C Substitution - Missense Skin COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Central_nervous_system COSM1582448 PHF20 c.1702C>T p.P568S Substitution - Missense Stomach COSM1360187 EP400 c.8184G>A p.Q2728Q Substitution - coding silent Large_intestine COSM2965373 KDM6A c.2171T>C p.I724T Substitution - Missense Upper_aerodigestive_tract COSM5636317 NIPBL c.5106A>G p.E1702E Substitution - coding silent Oesophagus COSM1628637 KMT2D c.13196C>A p.S4399* Substitution - Nonsense Liver COSM255097 MEN1 c.272_275delCCCG p.R92fs*26 Deletion - Frameshift Parathyroid COSM3460969 ARID2 c.2173C>T p.Q725* Substitution - Nonsense Skin COSM1091573 BAZ1B c.694-1G>A p.? Unknown Endometrium COSM4731955 TAF1 c.5443A>G p.T1815A Substitution - Missense Large_intestine COSM3939869 HCFC1 c.1862C>T p.A621V Substitution - Missense Oesophagus COSM1250947 EED c.1118G>A p.W373* Substitution - Nonsense Oesophagus COSM3968250 KMT2D c.1215A>G p.Q405Q Substitution - coding silent Central_nervous_system COSM1673340 TRRAP c.10900A>G p.T3634A Substitution - Missense Large_intestine COSM5365087 DOT1L c.1983C>A p.S661S Substitution - coding silent Large_intestine COSM5916969 ACTA1 c.253G>A p.E85K Substitution - Missense Skin COSM4767415 ARID1A c.1345C>T p.Q449* Substitution - Nonsense Biliary_tract COSM1258846 NCOR1 c.5742A>G p.R1914R Substitution - coding silent Stomach COSM4590784 ATF7IP c.2647C>A p.Q883K Substitution - Missense Upper_aerodigestive_tract COSM87002 DNMT3A c.1627G>T p.G543C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5654542 HCFC2 c.2032C>A p.P678T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5733877 SETD3 c.871G>T p.E291* Substitution - Nonsense Pancreas COSM5494546 BTAF1 c.3449T>C p.L1150P Substitution - Missense Biliary_tract COSM52781 PBRM1 c.3892C>T p.Q1298* Substitution - Nonsense Kidney COSM4448694 KMT2C c.1185-1G>A p.? Unknown Skin COSM923602 KMT2A c.10966C>T p.R3656W Substitution - Missense Endometrium COSM3307139 HDAC9 c.1333C>T p.R445C Substitution - Missense Stomach COSM1299795 CHD4 c.3997C>G p.L1333V Substitution - Missense Urinary_tract COSM3724473 ARID1A c.5715_5715delA p.K1905fs*18 Deletion - Frameshift Large_intestine COSM5731004 KMT2D c.1300delC p.L434fs*1 Deletion - Frameshift Breast COSM4044504 YEATS4 c.28C>T p.P10S Substitution - Missense Stomach COSM1753243 DHX30 c.1018G>A p.E340K Substitution - Missense Urinary_tract COSM282692 MBD1 c.1367T>G p.L456R Substitution - Missense Large_intestine COSM4405321 HDAC2 c.297A>C p.E99D Substitution - Missense Skin COSM458675 TTF2 c.1956G>A p.L652L Substitution - coding silent Cervix COSM1251617 EYA2 c.1537C>T p.H513Y Substitution - Missense Oesophagus COSM5718374 TRRAP c.5964C>T p.A1988A Substitution - coding silent Skin COSM5754869 CHD9 c.2912C>T p.A971V Substitution - Missense Large_intestine COSM4663291 ARID4A c.3470G>C p.R1157T Substitution - Missense Large_intestine COSM3900849 CHD7 c.257C>T p.P86L Substitution - Missense Stomach COSM228090 EYA4 c.16G>A p.D6N Substitution - Missense Skin COSM1292702 MYST3 c.2432T>A p.I811N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM182663 KAT2B c.2045G>A p.R682Q Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1018623 HDAC4 c.2321C>T p.A774V Substitution - Missense Endometrium COSM4916885 AP001011.3_ENST00000320876 c.3097A>T p.S1033C Substitution - Missense Liver COSM1363137 BAZ2A_ENST00000379441 c.2634C>T p.S878S Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1021893 SMEK2 c.666C>T p.V222V Substitution - coding silent Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4717904 PRMT8 c.732C>T p.G244G Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1289009 ZBTB4 c.1010A>C p.Y337S Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4144743 ERCC6 c.2551T>G p.W851G Substitution - Missense Thyroid COSM3789166 TDRD5 c.1110G>A p.K370K Substitution - coding silent Urinary_tract COSM5352420 HNF1A c.1769-3_1769-2ins300 p.? Unknown Liver COSM3416119 DPF2 c.535C>T p.R179C Substitution - Missense Large_intestine COSM3358151 ACTB c.59G>C p.G20A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM323214 SCML2 c.1892G>T p.W631L Substitution - Missense Lung COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM254824 KMT2C c.12221G>T p.G4074V Substitution - Missense Skin COSM37032 EZH2 c.1937A>G p.Y646C Substitution - Missense Salivary_gland COSM1377482 SRCAP c.7721_7723delCCT p.S2576delS Deletion - In frame Large_intestine COSM96943 ARID1A c.? p.R2236C Substitution - Missense Pancreas COSM1095744 ATAD2 c.4099C>T p.R1367C Substitution - Missense Large_intestine COSM1420480 MECOM c.2542C>T p.R848* Substitution - Nonsense Large_intestine COSM1685810 NIPBL c.7480_7482delGAA p.E2496delE Deletion - In frame Skin COSM4735992 TRIM24 c.1455A>G p.Q485Q Substitution - coding silent Large_intestine COSM267632 TRDMT1 c.1059A>G p.G353G Substitution - coding silent Large_intestine COSM5944500 TET2 c.2223_2224insTAAAC p.Q742fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5748877 BAZ2B c.1291C>T p.R431W Substitution - Missense Pancreas COSM3954003 KDM4D c.795T>G p.T265T Substitution - coding silent Lung COSM27526 MSH6 c.? p.W365* Substitution - Nonsense Central_nervous_system COSM5916435 MGA c.860C>T p.S287F Substitution - Missense Skin COSM71282 KDM5B c.2632C>A p.L878I Substitution - Missense Ovary COSM1617697 DHX30 c.2561T>C p.L854S Substitution - Missense Liver COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34039 IDH2 c.514A>T p.R172W Substitution - Missense Central_nervous_system COSM28792 KDM6A c.646G>T p.E216* Substitution - Nonsense Oesophagus COSM40778 ZBTB4 c.2842C>T p.L948F Substitution - Missense Central_nervous_system COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM29387 SMARCB1 c.629_1158del530 p.? Unknown Central_nervous_system COSM53297 SMARCB1 c.565_566ins13 p.I189fs*26 Insertion - Frameshift Central_nervous_system COSM52980 EZH2 c.2069G>A p.R690H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM71280 KDM4C c.2352A>T p.E784D Substitution - Missense Ovary COSM133737 DNMT3A c.2207G>A p.R736H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Soft_tissue COSM146701 TDRD5 c.2164G>A p.E722K Substitution - Missense Large_intestine COSM211621 TET2 c.3697T>G p.W1233G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM201010 ING1 c.586C>T p.R196* Substitution - Nonsense Endometrium COSM250042 ATRX c.4599_4600insT p.T1534fs*8 Insertion - Frameshift Central_nervous_system COSM252480 DOT1L c.146C>T p.P49L Substitution - Missense Ovary COSM276134 MTF2 c.1040G>A p.R347Q Substitution - Missense Large_intestine COSM364871 HCFC1 c.5058A>T p.E1686D Substitution - Missense Lung COSM382395 HDGFL1 c.265C>A p.Q89K Substitution - Missense Lung COSM398906 EED c.1241G>C p.R414P Substitution - Missense Lung COSM417664 DOT1L c.1668G>A p.V556V Substitution - coding silent Urinary_tract COSM415108 MGMT c.436C>G p.H146D Substitution - Missense Urinary_tract COSM471644 SRCAP c.6793G>T p.V2265L Substitution - Missense Kidney COSM693712 KMT2D c.13900C>T p.R4634* Substitution - Nonsense Stomach COSM1026876 CHD6 c.2691C>T p.G897G Substitution - coding silent Endometrium COSM703227 SETD1A c.3883C>T p.H1295Y Substitution - Missense Lung COSM934217 HCFC2 c.82G>T p.A28S Substitution - Missense Large_intestine COSM999380 PRMT1 c.949G>A p.A317T Substitution - Missense Endometrium COSM1075244 JARID2 c.1147A>G p.N383D Substitution - Missense Endometrium COSM1125475 ATRX c.2874G>T p.Q958H Substitution - Missense Endometrium COSM1122962 KDM5C c.1497G>A p.V499V Substitution - coding silent Endometrium COSM1238251 ATAD2 c.3449C>T p.P1150L Substitution - Missense Oesophagus COSM1247996 CDYL2 c.1515_1516AG>CT p.E505_V506>DF Complex - compound substitution Stomach COSM1209388 HDAC5 c.2947T>G p.F983V Substitution - Missense Large_intestine COSM1262952 PRDM2 c.3615T>G p.N1205K Substitution - Missense Oesophagus COSM1220353 PHF2 c.854G>A p.R285Q Substitution - Missense Large_intestine COSM1215210 KMT2D c.3374C>T p.S1125L Substitution - Missense Eye COSM1178128 ZMYM3 c.974A>G p.Y325C Substitution - Missense Prostate COSM1169598 PBRM1 c.1587_1587delT p.V530fs*39 Deletion - Frameshift Kidney COSM1315845 ASXL1 c.4285T>G p.S1429A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1606902 ZMYM2 c.2012A>G p.Y671C Substitution - Missense Liver COSM1307613 DIDO1 c.2239G>C p.E747Q Substitution - Missense Urinary_tract COSM1301145 TP53BP1 c.4544A>C p.Y1515S Substitution - Missense Urinary_tract COSM1296227 ARID1A c.5404G>T p.E1802* Substitution - Nonsense Urinary_tract COSM1411323 NCOA6 c.1997delC p.P666fs*12 Deletion - Frameshift Stomach COSM1433329 BRD8 c.532delC p.R178fs*6 Deletion - Frameshift Large_intestine COSM1462648 KIAA2026_ENST00000399933 c.2437C>T p.R813C Substitution - Missense Large_intestine COSM1453215 TRRAP c.9241T>G p.L3081V Substitution - Missense Large_intestine COSM1352575 PRDM10 c.628delC p.L210fs*5 Deletion - Frameshift Large_intestine COSM1367543 TDRD3 c.607A>C p.T203P Substitution - Missense Large_intestine COSM1349251 TAF3 c.981G>A p.T327T Substitution - coding silent Large_intestine COSM1469599 BRWD3 c.1233-1G>T p.? Unknown Large_intestine COSM1630638 L3MBTL4 c.1199+3A>T p.? Unknown Liver COSM1636929 SETD2 c.3446C>A p.T1149N Substitution - Missense Bone COSM1720119 PRDM8 c.197G>A p.R66K Substitution - Missense Skin COSM1732125 SETD2 c.4784+1G>C p.? Unknown Kidney COSM42037 TET2 c.4210C>T p.R1404* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1734409 CREBBP c.2925delC p.S976fs*22 Deletion - Frameshift Pancreas COSM1997445 ACTA1 c.475G>A p.D159N Substitution - Missense Peritoneum COSM2105644 KMT2A c.11271C>A p.P3757P Substitution - coding silent Large_intestine COSM2221770 TRIM66 c.3438G>C p.E1146D Substitution - Missense Upper_aerodigestive_tract COSM2747705 DOT1L c.3827G>A p.R1276Q Substitution - Missense Large_intestine COSM2965306 KDM6A c.447A>T p.A149A Substitution - coding silent Upper_aerodigestive_tract COSM3013869 PRDM9 c.2442C>A p.S814R Substitution - Missense Large_intestine COSM3214123 BRD3 c.895C>T p.P299S Substitution - Missense Large_intestine COSM3369859 RERE c.239C>T p.P80L Substitution - Missense Skin COSM3409756 BRD8 c.892C>T p.P298S Substitution - Missense Central_nervous_system COSM3434293 TDRD1 c.1369G>A p.E457K Substitution - Missense Skin COSM3421814 BPTF c.2168G>A p.R723H Substitution - Missense Large_intestine COSM3458270 EP400 c.8677C>T p.P2893S Substitution - Missense Skin COSM3615185 PRDM9 c.95C>T p.S32F Substitution - Missense Skin COSM3615189 PRDM9 c.310C>T p.P104S Substitution - Missense Skin COSM3568252 BAZ2B c.5591G>A p.R1864Q Substitution - Missense Skin COSM3548770 DIDO1 c.6020C>T p.S2007L Substitution - Missense Prostate COSM3517981 HDAC5 c.3359C>T p.P1120L Substitution - Missense Skin COSM3528103 DNMT1 c.3124C>T p.L1042F Substitution - Missense Skin COSM3664380 KIAA2026_ENST00000399933 c.1390G>T p.D464Y Substitution - Missense Liver COSM3673160 DIDO1 c.3707A>G p.Q1236R Substitution - Missense Prostate COSM3722551 KMT2D c.6669G>T p.G2223G Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3729642 CCDC101 c.448G>A p.A150T Substitution - Missense Stomach COSM3715611 TIF1 c.2615G>A p.R872K Substitution - Missense Upper_aerodigestive_tract COSM3737038 DNMT3A c.2005T>C p.S669P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3756740 DPF1 c.961C>T p.L321L Substitution - coding silent Large_intestine COSM3755299 SMYD4 c.392G>T p.R131I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3755305 RAI1 c.837G>A p.Q279Q Substitution - coding silent Large_intestine COSM3767704 SETD7 c.542A>G p.H181R Substitution - Missense Liver COSM3783025 RAI1 c.834G>C p.Q278H Substitution - Missense Prostate COSM3801563 PRDM2 c.4396T>C p.Y1466H Substitution - Missense Breast COSM3801776 SETDB1 c.3319G>C p.E1107Q Substitution - Missense Breast COSM3868521 KMT2A c.1728C>T p.S576S Substitution - coding silent Skin COSM3939660 L3MBTL2 c.1915C>T p.R639* Substitution - Nonsense Oesophagus COSM3822191 MBD3 c.530T>A p.L177Q Substitution - Missense Breast COSM3848330 TAF1L c.3643C>T p.R1215C Substitution - Missense Large_intestine COSM3925440 CHD7 c.2345C>T p.S782F Substitution - Missense Skin COSM3919888 PRDM9 c.761C>T p.P254L Substitution - Missense Skin COSM3879504 KMT2C c.13800C>T p.C4600C Substitution - coding silent Stomach COSM3874526 TDRD6 c.2633A>G p.Q878R Substitution - Missense Stomach COSM4015923 KAT6B c.4857C>T p.V1619V Substitution - coding silent Stomach COSM4010652 MTF2 c.1717C>T p.R573C Substitution - Missense Stomach COSM4098437 CHD6 c.7359T>C p.A2453A Substitution - coding silent Stomach COSM4107282 FMR1 c.1685G>A p.R562H Substitution - Missense Stomach COSM4110874 TAF1 c.701G>A p.R234Q Substitution - Missense Stomach COSM4060214 SRCAP c.9069C>T p.P3023P Substitution - coding silent Stomach COSM4065092 PHF12 c.1458A>G p.T486T Substitution - coding silent Stomach COSM4145728 PHF21A c.975C>A p.S325R Substitution - Missense Upper_aerodigestive_tract COSM4161255 TDRD6 c.599T>G p.V200G Substitution - Missense Upper_aerodigestive_tract COSM4384346 KMT2C c.2619delG p.Q873fs*40 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4379352 PHF16 c.747G>T p.L249L Substitution - coding silent Large_intestine COSM4485360 BAZ2B c.2924C>T p.A975V Substitution - Missense Skin COSM4554210 PRDM5 c.615G>A p.G205G Substitution - coding silent Skin COSM4493814 DNMT1 c.4167C>T p.N1389N Substitution - coding silent Skin COSM4551224 APOBEC1 c.522G>A p.W174* Substitution - Nonsense Skin COSM4473871 CHD4 c.187C>T p.P63S Substitution - Missense Skin COSM4722920 RSF1 c.2536A>G p.T846A Substitution - Missense Large_intestine COSM4770177 PBRM1 c.4576+5_4576+6insGAG p.? Unknown Soft_tissue COSM4694872 KDM2A c.1384C>T p.R462C Substitution - Missense Large_intestine COSM4728365 SMC1A c.2878_2879insG p.E960fs*21 Insertion - Frameshift Large_intestine COSM4765977 KMT2C c.8391_8392insA p.E2798fs*11 Insertion - Frameshift Skin COSM4713908 PHC3 c.519G>A p.Q173Q Substitution - coding silent Large_intestine COSM4694056 MYST3 c.3431C>T p.T1144I Substitution - Missense Large_intestine COSM4636755 PRDM1 c.1089G>A p.P363P Substitution - coding silent Large_intestine COSM4767349 TET2 c.2072_2087del16 p.E692fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4803818 MUM1 c.849G>T p.A283A Substitution - coding silent Liver COSM4788054 GABRG1 c.65G>T p.R22M Substitution - Missense Liver COSM4830049 L3MBTL4 c.712G>A p.D238N Substitution - Missense Cervix COSM4828543 KMT2D c.9369G>A p.P3123P Substitution - coding silent Cervix COSM4876871 HDAC5 c.910G>T p.G304W Substitution - Missense Prostate COSM4954000 SMARCA1 c.95C>A p.S32Y Substitution - Missense Liver COSM4945644 EHMT2 c.2345A>G p.D782G Substitution - Missense Liver COSM4998192 GATAD2A c.271C>A p.L91M Substitution - Missense Pancreas COSM4995132 KMT2D c.13339G>T p.E4447* Substitution - Nonsense Upper_aerodigestive_tract COSM4984750 HDAC9 c.2494C>A p.Q832K Substitution - Missense Oesophagus COSM5045735 UHRF1 c.2335G>T p.G779C Substitution - Missense Oesophagus COSM5346907 ARID1A c.2178_2188del11 p.R727fs*86 Deletion - Frameshift Endometrium COSM5377568 SETDB1 c.2212A>T p.K738* Substitution - Nonsense Skin COSM5397076 MSH6 c.412_413CC>TT p.P138L Substitution - Missense Skin COSM5380517 ARID1A c.3913C>T p.P1305S Substitution - Missense Skin COSM5378683 TDRD5 c.2846C>T p.P949L Substitution - Missense Skin COSM5474513 KDM3A c.1622C>G p.A541G Substitution - Missense Large_intestine COSM5482030 ARID1B c.5350C>T p.R1784* Substitution - Nonsense Large_intestine COSM5752057 DNMT3A c.2136delC p.L713fs*66 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5716641 L3MBTL3 c.499C>T p.P167S Substitution - Missense Skin COSM5620935 HDAC1 c.391A>G p.I131V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5607831 ARID1A c.5170C>T p.L1724L Substitution - coding silent Skin COSM5606486 DOT1L c.3889C>T p.P1297S Substitution - Missense Skin COSM5687848 PHF20 c.2577G>C p.T859T Substitution - coding silent Soft_tissue COSM5687562 BAHCC1 c.4782A>C p.P1594P Substitution - coding silent Soft_tissue COSM5763954 BRD3 c.2161G>A p.D721N Substitution - Missense Large_intestine COSM5789965 UHRF2 c.1411C>A p.H471N Substitution - Missense Breast COSM5808405 KMT2C c.5122A>G p.K1708E Substitution - Missense Liver COSM5950618 MBD4 c.1481C>T p.A494V Substitution - Missense Prostate COSM5887884 NIPBL c.5428-6C>T p.? Unknown Upper_aerodigestive_tract COSM5934562 NCOA1 c.2890G>A p.G964S Substitution - Missense Skin COSM5945993 ARID1A c.3453_3454insA p.S1152fs*41 Insertion - Frameshift Urinary_tract COSM5929051 MYST3 c.5978C>T p.P1993L Substitution - Missense Skin COSM6000037 MTA2 c.1889G>A p.R630H Substitution - Missense Prostate COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41709 TET2 c.4317_4318insA p.R1440fs*38 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43413 TET2 c.?_?ins? p.?fs Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM144562 DNMT3A c.? p.A644T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM307759 TET2 c.? p.L34F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1101394 PRDM14 c.1038G>A p.G346G Substitution - coding silent Endometrium COSM755441 SMARCA1 c.1957A>T p.I653F Substitution - Missense Lung COSM4042399 KMT2D c.3049C>T p.R1017W Substitution - Missense Prostate COSM4054465 INOC1 c.3877C>T p.R1293* Substitution - Nonsense Stomach COSM5595471 TP53BP1 c.3480C>T p.S1160S Substitution - coding silent Skin COSM1313693 ATAD2 c.736G>A p.E246K Substitution - Missense Urinary_tract COSM345593 PRMT10 c.2298G>A p.L766L Substitution - coding silent Lung COSM53096 DNMT3A c.2481_2481delC p.F827fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1751939 HDAC10 c.797C>G p.S266* Substitution - Nonsense Urinary_tract COSM4384052 NSD1 c.1126G>T p.A376S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1433365 KDM3B c.853C>T p.R285W Substitution - Missense Large_intestine COSM3560204 SCML2 c.1962C>T p.L654L Substitution - coding silent Skin COSM3563503 ATRX c.4155G>A p.Q1385Q Substitution - coding silent Skin COSM1099901 MYST3 c.5351T>C p.V1784A Substitution - Missense Endometrium COSM460410 NCOR1 c.2779C>T p.L927L Substitution - coding silent Cervix COSM3113024 SRCAP c.8168G>A p.R2723H Substitution - Missense Upper_aerodigestive_tract COSM5727191 BAHCC1 c.5837C>T p.P1946L Substitution - Missense Small_intestine COSM1188671 MPHOSPH8 c.1802G>A p.G601E Substitution - Missense Lung COSM87099 TET2 c.2236C>T p.Q746* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4728318 SMARCB1 c.783C>T p.R261R Substitution - coding silent Large_intestine COSM3825995 CLOCK c.359G>T p.G120V Substitution - Missense Breast COSM3439741 SIRT1 c.942G>A p.K314K Substitution - coding silent Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM4591407 DIDO1 c.4872G>C p.K1624N Substitution - Missense Upper_aerodigestive_tract COSM3388270 CHD3 c.559A>T p.T187S Substitution - Missense Pancreas COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM895849 POGZ c.952G>A p.A318T Substitution - Missense Endometrium COSM3827985 NIPBL c.677C>T p.P226L Substitution - Missense Breast COSM1179107 KMT2C c.851G>A p.R284Q Substitution - Missense Central_nervous_system COSM1378311 CHD9 c.1737_1738insA p.T582fs*6 Insertion - Frameshift Large_intestine COSM2208073 GATAD2B c.929G>A p.R310H Substitution - Missense Large_intestine COSM251411 ARID2 c.5174C>G p.S1725* Substitution - Nonsense Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1722309 MYST3 c.5079A>C p.P1693P Substitution - coding silent Central_nervous_system COSM3733523 NCOR1 c.14G>T p.G5V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1082910 ACTL6B c.1156C>T p.R386C Substitution - Missense Prostate COSM1296229 ARID1A c.6103G>T p.E2035* Substitution - Nonsense Urinary_tract COSM30367 SETD2 c.5540_5555del16 p.A1847fs*17 Deletion - Frameshift Kidney COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Liver COSM1334658 ASH1L c.4086A>G p.E1362E Substitution - coding silent Large_intestine COSM583934 DHX30 c.50G>A p.R17H Substitution - Missense Oesophagus COSM4936675 KMT2C c.8946T>G p.V2982V Substitution - coding silent Liver COSM5375639 BAZ2A_ENST00000379441 c.5469C>T p.N1823N Substitution - coding silent Skin COSM681262 KDM4A c.259A>G p.I87V Substitution - Missense Lung COSM1736949 CHD1 c.2732G>A p.R911H Substitution - Missense Central_nervous_system COSM2909159 HDAC4 c.1017G>A p.S339S Substitution - coding silent Large_intestine COSM4101441 SETD4 c.819C>T p.G273G Substitution - coding silent Stomach COSM5762877 EZH2 c.1998C>A p.Y666* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM94141 DNMT3A c.2687C>T p.P896L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1228844 TDRKH c.844T>C p.S282P Substitution - Missense Large_intestine COSM936441 SETD8 c.931G>T p.D311Y Substitution - Missense Endometrium COSM5895151 AICDA c.428-4_428-3insTT p.? Unknown Skin COSM4486392 TRIM33 c.3046C>A p.Q1016K Substitution - Missense Skin COSM4804719 CBX4 c.1392G>T p.L464L Substitution - coding silent Liver COSM5607378 EPC2 c.1650G>A p.Q550Q Substitution - coding silent Skin COSM1625695 HCFC1 c.1745A>G p.N582S Substitution - Missense Liver COSM4013646 ZMYND11 c.1407G>A p.K469K Substitution - coding silent Stomach COSM1624905 TAF1L c.2848C>A p.P950T Substitution - Missense Liver COSM5341295 SFMBT2 c.1839C>G p.V613V Substitution - coding silent Large_intestine COSM1237697 TDG c.287_288insA p.I98fs*6 Insertion - Frameshift Thyroid COSM1608395 TP53BP1 c.1070+4A>C p.? Unknown Liver COSM2235531 ARID1A c.5013_5034del22 p.M1673fs*9 Deletion - Frameshift Oesophagus COSM1257804 MLL5 c.2888G>A p.R963H Substitution - Missense Stomach COSM1691880 IDH1 c.870G>A p.M290I Substitution - Missense Skin COSM3774230 BAG6 c.1855T>C p.S619P Substitution - Missense Soft_tissue COSM3563680 BRWD3 c.3400C>T p.Q1134* Substitution - Nonsense Skin COSM1686836 KDM6A c.655-1G>A p.? Unknown Skin COSM4031503 RBBP4 c.545G>A p.G182E Substitution - Missense Stomach COSM1641364 ZMYND8 c.1964delA p.K655fs*14 Deletion - Frameshift Large_intestine COSM3417927 TTF2 c.187T>G p.L63V Substitution - Missense Large_intestine COSM2156731 MINA c.147C>A p.I49I Substitution - coding silent Central_nervous_system COSM5657859 PHF21B c.951G>A p.L317L Substitution - coding silent Soft_tissue COSM1473449 LBR c.289T>G p.S97A Substitution - Missense Breast COSM1578825 CHD4 c.2867G>A p.R956Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5639484 SP100 c.482A>G p.E161G Substitution - Missense Oesophagus COSM5970917 ZMYM5 c.173_178delATGATG p.D58_D59delDD Deletion - In frame Upper_aerodigestive_tract COSM5693211 TTF2 c.952G>T p.E318* Substitution - Nonsense Soft_tissue COSM4982894 NCOA7 c.2053C>T p.R685W Substitution - Missense Oesophagus COSM1211733 KDM4B c.1001A>C p.K334T Substitution - Missense Large_intestine COSM5818182 ARID4A c.3679G>T p.A1227S Substitution - Missense Liver COSM300063 HCFC2 c.1916A>C p.K639T Substitution - Missense Large_intestine COSM3748539 KAT5 c.1446C>T p.S482S Substitution - coding silent Stomach COSM3807775 TAF3 c.387A>C p.P129P Substitution - coding silent Breast COSM230085 NSD1 c.1990G>A p.E664K Substitution - Missense Skin COSM4672085 CHD7 c.2819C>T p.P940L Substitution - Missense Large_intestine COSM3554885 EP300 c.2393G>A p.S798N Substitution - Missense Skin COSM4664630 ATRX c.4277G>A p.R1426Q Substitution - Missense Large_intestine COSM4949895 BPTF c.2867_2901del35 p.S957fs*3 Deletion - Frameshift Liver COSM702069 CHD2 c.3582A>T p.E1194D Substitution - Missense Lung COSM435126 SRCAP c.3783G>C p.Q1261H Substitution - Missense Breast COSM5471776 BAP1 c.1890+10C>T p.? Unknown Large_intestine COSM4575961 PHF11 c.420C>T p.D140D Substitution - coding silent Bone COSM4960272 ATRX c.1351G>A p.A451T Substitution - Missense Liver COSM949287 YY1 c.207_209delCCA p.H80delH Deletion - In frame Endometrium COSM963070 PYGO1 c.1105C>T p.R369W Substitution - Missense Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4168480 HDAC9 c.1417C>A p.Q473K Substitution - Missense Stomach COSM744657 SND1 c.1432G>C p.E478Q Substitution - Missense Lung COSM5547068 L3MBTL2 c.1393_1395delGGG p.G466delG Deletion - In frame Prostate COSM1370236 ARID4A c.2599delA p.I869fs*1 Deletion - Frameshift Large_intestine COSM4169860 TET2 c.2230C>T p.Q744* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM941770 BAZ2A c.2406A>C p.E802D Substitution - Missense Endometrium COSM261997 MGA c.8096G>A p.R2699Q Substitution - Missense Large_intestine COSM376123 TIF1 c.1976G>T p.S659I Substitution - Missense Lung COSM1651766 SMARCA4 c.2438+1G>T p.? Unknown Soft_tissue COSM3720479 DPF2 c.902C>T p.S301L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM145115 ASXL1 c.2512A>T p.K838* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1751638 BRWD1 c.4487T>G p.I1496S Substitution - Missense Urinary_tract COSM4169632 PHF6 c.? p.A296fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM5394457 MBD5 c.2378G>C p.C793S Substitution - Missense Skin COSM5809357 TET2 c.5773G>A p.A1925T Substitution - Missense Liver COSM4528614 PWWP2B c.1551G>A p.E517E Substitution - coding silent Skin COSM4013682 ZMYND11 c.1669A>G p.T557A Substitution - Missense Stomach COSM3423188 SUV420H2 c.1050C>T p.H350H Substitution - coding silent Large_intestine COSM5611618 MSL3 c.102G>T p.K34N Substitution - Missense Adrenal_gland COSM4589051 PHF2 c.2003A>G p.D668G Substitution - Missense Bone COSM144181 EZH2 c.? p.C606Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4836021 DNMT3A c.1180G>A p.D394N Substitution - Missense Cervix COSM1443746 RING1 c.221T>C p.V74A Substitution - Missense Large_intestine COSM3113000 SRCAP c.7091C>T p.P2364L Substitution - Missense Stomach COSM3682801 CDY2B c.1110C>A p.I370I Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4383922 TET2 c.3858delT p.F1287fs*76 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5710503 STK31 c.2204C>A p.P735H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4075946 GATAD2A c.1284C>T p.T428T Substitution - coding silent Stomach COSM308288 KMT2C c.250G>T p.E84* Substitution - Nonsense Biliary_tract COSM1015579 IDH1 c.337A>G p.I113V Substitution - Missense Endometrium COSM4404095 HCFC1 c.1121C>T p.S374F Substitution - Missense Skin COSM3472821 PRDM2 c.2344C>T p.P782S Substitution - Missense Skin COSM5945104 EZH2 c.2191T>C p.Y731H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4414552 TP53BP1 c.2554C>T p.Q852* Substitution - Nonsense Kidney COSM4575101 HNF1A c.1727A>C p.Q576P Substitution - Missense Bone COSM3992878 ACTL6A c.1130G>A p.R377Q Substitution - Missense Kidney COSM681088 PRDM16 c.1451G>T p.G484V Substitution - Missense Lung COSM5895283 PRDM1 c.1516_1526del11 p.S507fs*5 Deletion - Frameshift Skin COSM120176 TET2 c.3813C>G p.C1271W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34192 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM596268 DAXX c.1500A>G p.L500L Substitution - coding silent Endometrium COSM473244 BPTF c.5128A>T p.K1710* Substitution - Nonsense Kidney COSM896918 ASH1L c.6045G>A p.K2015K Substitution - coding silent Endometrium COSM5677574 TTF2 c.490G>T p.D164Y Substitution - Missense Soft_tissue COSM4933592 LMNA c.1905C>T p.G635G Substitution - coding silent Liver COSM3132326 WHSC1 c.2445C>A p.A815A Substitution - coding silent Large_intestine COSM4886952 ZMYM3 c.1143C>T p.C381C Substitution - coding silent Upper_aerodigestive_tract COSM3762398 TIF1 c.2487A>G p.G829G Substitution - coding silent Soft_tissue COSM5440315 ARID1B c.3996_3997insCCTA p.P1334fs*108 Insertion - Frameshift Oesophagus COSM3745715 TDRD7 c.136T>C p.F46L Substitution - Missense Liver COSM4665063 BAHD1 c.1575C>A p.T525T Substitution - coding silent Large_intestine COSM1073493 EYA4 c.1670C>T p.A557V Substitution - Missense Endometrium COSM5751254 SETBP1 c.1061_1062insT p.W354fs*10 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3650079 CHD7 c.5533G>C p.G1845R Substitution - Missense Skin COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1377027 GTF3C1 c.3266G>A p.R1089H Substitution - Missense Large_intestine COSM371966 NSD1 c.3010G>T p.D1004Y Substitution - Missense Lung COSM5972469 KDM6B c.147C>T p.A49A Substitution - coding silent Upper_aerodigestive_tract COSM3490664 ORC1 c.451G>A p.E151K Substitution - Missense Skin COSM4406768 INO80B c.408A>T p.E136D Substitution - Missense Pancreas COSM3850188 PHF15 c.1984G>A p.G662R Substitution - Missense Stomach COSM5997655 MLL5 c.2735C>T p.T912M Substitution - Missense Prostate COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4099103 NCOA3 c.3509T>A p.L1170H Substitution - Missense Stomach COSM4505417 NSD1 c.6924C>A p.S2308S Substitution - coding silent Skin COSM221068 KMT2D c.7088C>A p.S2363* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1681679 CHD6 c.7381C>T p.P2461S Substitution - Missense Skin COSM5347066 ARID1A c.3659T>C p.M1220T Substitution - Missense Endometrium COSM42016 TET2 c.4393C>T p.R1465* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1386954 CBX8 c.214C>T p.R72C Substitution - Missense Stomach COSM1355393 MTA2 c.1664_1665insG p.I556fs*8 Insertion - Frameshift Large_intestine COSM127803 DIDO1 c.1740A>C p.T580T Substitution - coding silent Thyroid COSM3656571 SMARCA2 c.3852C>T p.I1284I Substitution - coding silent Skin COSM3712476 BAHCC1 c.3825C>T p.S1275S Substitution - coding silent Upper_aerodigestive_tract COSM5722287 INOC1 c.2013C>T p.F671F Substitution - coding silent Skin COSM4588681 EHMT1 c.345G>A p.S115S Substitution - coding silent Bone COSM1161051 KMT2D c.3416A>G p.K1139R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1644491 CHD9 c.3619A>G p.M1207V Substitution - Missense Salivary_gland COSM4395166 ING4 c.707+2T>C p.? Unknown Skin COSM993 SMARCB1 c.601C>T p.R201* Substitution - Nonsense Central_nervous_system COSM4569841 STK31 c.2098T>C p.F700L Substitution - Missense Skin COSM1166637 NSD1 c.5912A>G p.Y1971C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM326932 ZMYND11 c.461C>T p.S154L Substitution - Missense Lung COSM171629 PHF3 c.2287G>T p.E763* Substitution - Nonsense Large_intestine COSM2270925 MGA c.8388T>G p.I2796M Substitution - Missense Large_intestine COSM3458259 EP400 c.6753G>A p.K2251K Substitution - coding silent Skin COSM3785246 ARID1A c.1138-1G>T p.? Unknown Pancreas COSM3528443 SMARCA4 c.4403C>T p.A1468V Substitution - Missense Skin COSM3793673 BAZ1A c.4365G>C p.L1455F Substitution - Missense Urinary_tract COSM6017986 DIDO1 c.2657A>T p.K886M Substitution - Missense Skin COSM2965385 KDM6A c.2264C>T p.T755M Substitution - Missense Upper_aerodigestive_tract COSM5095473 NIPBL c.6319T>G p.W2107G Substitution - Missense Thymus COSM1476759 BAZ2A_ENST00000379441 c.3068G>A p.R1023Q Substitution - Missense Large_intestine COSM1223543 RERE c.3218C>T p.A1073V Substitution - Missense Liver COSM4592007 RAI1 c.841_843delCAG p.Q291delQ Deletion - In frame Upper_aerodigestive_tract COSM307320 ARID1A c.3137G>A p.R1046K Substitution - Missense Liver COSM5365568 TRIM28 c.2104C>T p.R702W Substitution - Missense Large_intestine COSM4741207 WHSC1 c.3779C>T p.T1260I Substitution - Missense Large_intestine COSM4575461 KMT2D c.571C>T p.R191W Substitution - Missense Bone COSM3668541 BAZ2B c.3831G>T p.E1277D Substitution - Missense Liver COSM3688064 EP400 c.7082A>T p.H2361L Substitution - Missense Large_intestine COSM2777613 KIAA2026_ENST00000399933 c.1528G>A p.E510K Substitution - Missense Large_intestine COSM321080 JHDM1D c.1930C>A p.R644S Substitution - Missense Cervix COSM1609321 CREBBP c.2284-5C>G p.? Unknown Liver COSM1026107 NCOA6 c.792G>A p.Q264Q Substitution - coding silent Large_intestine COSM5725541 TP53BP1 c.4650T>G p.D1550E Substitution - Missense Skin COSM133040 EZH2 c.2110G>C p.V704L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5721935 KMT2D c.7901C>T p.P2634L Substitution - Missense Skin COSM3706537 BAHD1 c.980A>C p.E327A Substitution - Missense Liver COSM3834874 CHD7 c.7295T>G p.V2432G Substitution - Missense Breast COSM3703456 TDRD7 c.1828G>A p.D610N Substitution - Missense Liver COSM1307481 ZMYND8 c.3130C>T p.Q1044* Substitution - Nonsense Urinary_tract COSM4092259 SP140_ENST00000392045 c.1436G>A p.G479D Substitution - Missense Stomach COSM51979 BAP1 c.845_853del9 p.E283_S285del Deletion - In frame Eye COSM3970692 SMARCA4 c.3502G>C p.A1168P Substitution - Missense Central_nervous_system COSM1012910 ASXL1 c.2338C>T p.Q780* Substitution - Nonsense Salivary_gland COSM1716769 TET2 c.? p.Q278* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1220359 PHF2 c.1196C>A p.A399D Substitution - Missense Large_intestine COSM13394 MSH6 c.3261_3262insC p.F1088fs*5 Insertion - Frameshift Stomach COSM1624338 TDRD7 c.2094G>A p.E698E Substitution - coding silent Liver COSM6002295 GTF3C1 c.5640G>A p.M1880I Substitution - Missense Prostate COSM480296 BAP1 c.29G>C p.S10T Substitution - Missense Kidney COSM5902145 ZGPAT c.422C>T p.S141F Substitution - Missense Skin COSM5887821 PBRM1 c.2315C>T p.P772L Substitution - Missense Upper_aerodigestive_tract COSM251400 ARID1A c.3424C>T p.Q1142* Substitution - Nonsense Stomach COSM73728 ARID2 c.2225C>T p.S742F Substitution - Missense Ovary COSM133137 DNMT3A c.? p.G543A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4796950 ARID4A c.907C>T p.P303S Substitution - Missense Liver COSM6016185 BRD7 c.1025G>C p.R342T Substitution - Missense Skin COSM3888411 SRCAP c.2954C>T p.P985L Substitution - Missense Skin COSM4504688 KMT2C c.6727C>T p.L2243F Substitution - Missense Skin COSM3736188 DNMT1 c.3404A>G p.K1135R Substitution - Missense Skin COSM163450 PHF23 c.1146G>A p.Q382Q Substitution - coding silent Breast COSM5494360 KMT2A c.2312_2313insC p.S774fs*12 Insertion - Frameshift Biliary_tract COSM4927832 ATRX c.5567-1G>A p.? Unknown Liver COSM5403154 NSD1 c.4153_4154CC>TT p.P1385F Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM108779 JMJD6 c.775C>A p.Q259K Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5831382 PCGF6 c.68_69delTG p.L23fs*19 Deletion - Frameshift Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4464562 TDRD5 c.133C>G p.L45V Substitution - Missense Skin COSM1351624 KMT2A c.4400T>C p.L1467P Substitution - Missense Central_nervous_system COSM6005460 KMT2D c.? p.L4156fs*6 Frameshift Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3461549 KMT2D c.9458C>T p.P3153L Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4471349 EHMT1 c.1620C>T p.L540L Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4066857 HDAC5 c.2094C>T p.C698C Substitution - coding silent Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM425840 SMYD3 c.1040G>A p.R347K Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM1114029 ZBTB33 c.1060T>C p.S354P Substitution - Missense Endometrium COSM5011974 UHRF2 c.221G>A p.R74H Substitution - Missense Kidney COSM1476743 SMARCC2 c.1121G>A p.G374D Substitution - Missense Breast COSM4921637 JARID2 c.1842C>T p.I614I Substitution - coding silent Liver COSM1245454 ARID2 c.1624C>T p.R542* Substitution - Nonsense Large_intestine COSM5352519 ARID1A c.875delC p.T294fs*69 Deletion - Frameshift Large_intestine COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4846798 BAHCC1 c.667G>C p.E223Q Substitution - Missense Cervix COSM389178 SRCAP c.6729G>C p.Q2243H Substitution - Missense Lung COSM5802394 MBD6 c.600delC p.R202fs*66 Deletion - Frameshift Breast COSM1704628 KMT2A c.4060C>T p.P1354S Substitution - Missense Skin COSM4991527 EP300 c.1535G>A p.S512N Substitution - Missense Skin COSM315458 SMYD4 c.982delG p.E328fs*25 Deletion - Frameshift Lung COSM87119 TET2 c.3500+2T>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Ovary COSM181348 PRDM2 c.846A>T p.E282D Substitution - Missense Large_intestine COSM5890943 SRCAP c.3082C>T p.P1028S Substitution - Missense Skin COSM3353058 TDRD6 c.915G>C p.E305D Substitution - Missense Lung COSM5344812 PHF15 c.605G>A p.C202Y Substitution - Missense Large_intestine COSM1297499 BTAF1 c.2860A>G p.T954A Substitution - Missense Urinary_tract COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Pancreas COSM1394660 KDM4B c.2655C>T p.A885A Substitution - coding silent Large_intestine COSM5003231 TRIM28 c.858C>A p.D286E Substitution - Missense Pancreas COSM419366 NCOA5 c.208C>T p.R70W Substitution - Missense Urinary_tract COSM1602806 MTF2 c.728G>A p.R243K Substitution - Missense Liver COSM753850 PHF2 c.2730C>T p.V910V Substitution - coding silent Lung COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM30425 KMT2D c.12246G>A p.E4082E Substitution - coding silent Oesophagus COSM30578 SMARCA4 c.479A>G p.Q160R Substitution - Missense Pancreas COSM41213 TET2 c.1864C>T p.Q622* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43420 TET2 c.4546C>T p.R1516* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85919 TET2 c.4126G>A p.D1376N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53027 EZH2 c.1978G>C p.G660R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85853 MEN1 c.491C>T p.A164V Substitution - Missense Pancreas COSM100077 TET2 c.1441C>T p.Q481* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM87137 TET2 c.3885_3885delC p.Y1295fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM88745 CREBBP c.4508A>T p.Y1503F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM86960 IDH2 c.512G>A p.G171D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87107 TET2 c.2604T>G p.F868L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM110707 ASXL1 c.1762C>T p.Q588* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM143462 ORC1 c.1501_1502CC>TT p.P501F Substitution - Missense Skin COSM158750 EED c.587T>A p.L196Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM249401 BAP1 c.851_858delAGTCCAAG p.E284fs*20 Deletion - Frameshift Kidney COSM238669 ACTB c.778G>A p.A260T Substitution - Missense Prostate COSM276726 PHF17 c.2457G>T p.K819N Substitution - Missense Endometrium COSM294696 PHC1 c.133C>T p.R45W Substitution - Missense Large_intestine COSM348112 KMT2C c.14270C>G p.S4757C Substitution - Missense Lung COSM374865 BRWD3 c.1592C>T p.T531I Substitution - Missense Lung COSM369092 LMNB1 c.604A>T p.T202S Substitution - Missense Lung COSM379443 SMARCD3 c.669C>T p.D223D Substitution - coding silent Autonomic_ganglia COSM425270 SMYD2 c.870C>T p.A290A Substitution - coding silent Breast COSM435386 CHD9 c.6485G>C p.G2162A Substitution - Missense Breast COSM480364 PBRM1 c.2153A>G p.Y718C Substitution - Missense Kidney COSM486804 TDRD7 c.2189G>A p.R730Q Substitution - Missense Kidney COSM1691146 MBD5 c.1522C>T p.P508S Substitution - Missense Skin COSM690889 KDM4D c.798G>A p.Q266Q Substitution - coding silent Lung COSM1646546 CHD4 c.2197G>T p.G733C Substitution - Missense Lung COSM690381 KDM2A c.1016G>A p.R339H Substitution - Missense Lung COSM689350 PHRF1 c.3369C>T p.S1123S Substitution - coding silent Lung COSM939988 KMT2D c.14506C>T p.R4836C Substitution - Missense Endometrium COSM746381 STK31 c.1214C>A p.P405Q Substitution - Missense Lung COSM756870 PHF8 c.160G>T p.E54* Substitution - Nonsense Lung COSM703627 GLYR1 c.708G>A p.T236T Substitution - coding silent Lung COSM734128 CLOCK c.2482C>A p.Q828K Substitution - Missense Lung COSM722498 INO80B c.251C>T p.S84L Substitution - Missense Lung COSM904644 LBR c.725A>T p.N242I Substitution - Missense Endometrium COSM947881 PHF11 c.156C>T p.V52V Substitution - coding silent Large_intestine COSM990750 SMARCA4 c.2758G>A p.E920K Substitution - Missense Pancreas COSM961349 INOC1 c.3530G>A p.R1177Q Substitution - Missense Urinary_tract COSM961371 INOC1 c.10G>C p.E4Q Substitution - Missense Endometrium COSM1034752 TCF20 c.5769G>T p.E1923D Substitution - Missense Endometrium COSM969948 SRCAP c.8197C>T p.Q2733* Substitution - Nonsense Endometrium COSM1235018 EZH2 c.1991A>G p.D664G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1180961 ATXN7 c.2334delC p.T781fs*11 Deletion - Frameshift Large_intestine COSM1205877 EYA2 c.502G>A p.G168S Substitution - Missense Large_intestine COSM1162138 SETD2 c.2986T>C p.C996R Substitution - Missense Kidney COSM1606741 PHC1 c.1165C>T p.Q389* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1307401 CHD6 c.5752G>C p.E1918Q Substitution - Missense Urinary_tract COSM1307482 ZMYND8 c.3055T>C p.Y1019H Substitution - Missense Urinary_tract COSM1299423 KMT2D c.14775G>C p.Q4925H Substitution - Missense Urinary_tract COSM1316859 ZMYM3 c.1475A>T p.N492I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1433314 BRD8 c.3202G>A p.E1068K Substitution - Missense Large_intestine COSM1437276 NIPBL c.3861C>T p.N1287N Substitution - coding silent Large_intestine COSM1448369 TIF1 c.1275C>T p.I425I Substitution - coding silent Large_intestine COSM1453189 TRRAP c.5650C>A p.L1884M Substitution - Missense Large_intestine COSM1583060 DNMT3A c.1304_1305insT p.Y436fs*9 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1582191 TTF2 c.1798T>A p.L600I Substitution - Missense Stomach COSM1679026 SETD1A c.1123C>T p.R375C Substitution - Missense Ovary COSM1704989 ING4 c.586A>C p.T196P Substitution - Missense Skin COSM1721292 MTA1 c.1637_1638insC p.K549fs*3 Insertion - Frameshift Large_intestine COSM1665681 PBRM1 c.625delC p.Q209fs*15 Deletion - Frameshift Kidney COSM1942683 PHF11 c.913G>A p.D305N Substitution - Missense Skin COSM1754902 PHF3 c.5311T>C p.C1771R Substitution - Missense Urinary_tract COSM42037 TET2 c.4210C>T p.R1404* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1733427 MBD3 c.442G>A p.A148T Substitution - Missense Pancreas COSM1979089 ALKBH3 c.491G>A p.R164H Substitution - Missense Stomach COSM2036974 PHRF1 c.2713C>T p.R905W Substitution - Missense Large_intestine COSM2051925 SMYD3 c.908delT p.F303fs*12 Deletion - Frameshift Large_intestine COSM2067961 KDM5A c.1024G>A p.A342T Substitution - Missense Large_intestine COSM2687787 NIPBL c.1583C>T p.T528M Substitution - Missense Central_nervous_system COSM2753752 KDM4B c.359G>A p.R120H Substitution - Missense Stomach COSM2866564 TRRAP c.2966C>A p.A989E Substitution - Missense Liver COSM2992787 SETD6 c.742A>G p.T248A Substitution - Missense Large_intestine COSM3283989 MBD3 c.742C>A p.L248M Substitution - Missense Large_intestine COSM3388141 ZBTB4 c.2769G>A p.P923P Substitution - coding silent Stomach COSM3413628 KIAA1045 c.80G>T p.G27V Substitution - Missense Central_nervous_system COSM3464411 CHD4 c.1420C>T p.H474Y Substitution - Missense Skin COSM3621294 SHPRH c.3655G>A p.E1219K Substitution - Missense Skin COSM3545566 NCOA6 c.1001C>T p.S334F Substitution - Missense Skin COSM3548779 DIDO1 c.5032G>A p.G1678S Substitution - Missense Skin COSM3529834 MBD3 c.572C>T p.P191L Substitution - Missense Skin COSM3662120 NCOA7 c.1736A>C p.D579A Substitution - Missense Liver COSM3663820 CHD7 c.8439C>T p.G2813G Substitution - coding silent Liver COSM3691392 RAI1 c.3182C>T p.T1061M Substitution - Missense Large_intestine COSM3670990 SIRT4 c.533G>T p.R178L Substitution - Missense Prostate COSM3707843 ADNP c.2038A>G p.I680V Substitution - Missense Liver COSM3728410 ARID1B c.1765G>A p.G589R Substitution - Missense Soft_tissue COSM3710883 ARID2 c.723T>C p.V241V Substitution - coding silent Upper_aerodigestive_tract COSM3737073 SETD1A c.4511_4513delAGA p.K1505delK Deletion - In frame Soft_tissue COSM3752792 TRIM66 c.1397A>G p.H466R Substitution - Missense Upper_aerodigestive_tract COSM3769421 KDM2A c.2365G>T p.V789F Substitution - Missense Pancreas COSM3772196 SETD1A c.3772G>A p.D1258N Substitution - Missense Pancreas COSM3799544 CHD6 c.7859G>T p.G2620V Substitution - Missense Urinary_tract COSM3798733 SP100 c.2203G>A p.E735K Substitution - Missense Urinary_tract COSM3930754 PHC2 c.1936G>T p.G646C Substitution - Missense Urinary_tract COSM3842813 TCF20 c.1863T>G p.G621G Substitution - coding silent Breast COSM3832368 KMT2C c.4174C>T p.Q1392* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3918706 KDM3B c.2076C>T p.L692L Substitution - coding silent Skin COSM4023056 ASH1L c.3617A>T p.D1206V Substitution - Missense Stomach COSM4015665 SFMBT2 c.385C>A p.H129N Substitution - Missense Stomach COSM4007351 ZMYM4 c.2555G>T p.S852I Substitution - Missense Stomach COSM4107279 FMR1 c.1104T>C p.P368P Substitution - coding silent Stomach COSM4093270 DNMT3A c.615G>A p.E205E Substitution - coding silent Stomach COSM4119156 PBRM1 c.2890G>A p.V964I Substitution - Missense Skin COSM4074026 SMARCA4 c.1616G>A p.R539H Substitution - Missense Stomach COSM4074062 SMARCA4 c.4146A>G p.S1382S Substitution - coding silent Stomach COSM4141003 DNMT3A c.1647C>T p.C549C Substitution - coding silent Ovary COSM4145728 PHF21A c.975C>A p.S325R Substitution - Missense Upper_aerodigestive_tract COSM4384294 EZH2 c.745G>T p.E249* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4384336 KMT2C c.4870G>A p.G1624R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384620 KMT2A c.9674G>A p.R3225H Substitution - Missense Large_intestine COSM4407667 SFMBT2 c.1471G>A p.V491M Substitution - Missense Oesophagus COSM4603241 KDM6B c.761_762insACCACC p.P264_L265insPP Insertion - In frame Upper_aerodigestive_tract COSM4419333 ARID2 c.597C>G p.I199M Substitution - Missense Prostate COSM4424696 PRDM1 c.35T>A p.L12Q Substitution - Missense Oesophagus COSM4433731 KDM6A c.2378G>C p.G793A Substitution - Missense Oesophagus COSM4587149 TRIM24 c.2670A>G p.E890E Substitution - coding silent Bone COSM4526552 NCOA2 c.1401G>T p.M467I Substitution - Missense Skin COSM4516944 PHRF1 c.2550_2551CC>TT p.P851S Substitution - Missense Skin COSM4448017 BAHCC1 c.3808C>T p.L1270L Substitution - coding silent Skin COSM4708349 NSD1 c.3035G>A p.R1012H Substitution - Missense Large_intestine COSM4714036 PHF8 c.416C>T p.S139L Substitution - Missense Large_intestine COSM4663267 ARID2 c.1625G>A p.R542Q Substitution - Missense Large_intestine COSM4702410 KMT2D c.14907G>A p.P4969P Substitution - coding silent Large_intestine COSM4611796 BRD1 c.1295delA p.K432fs*26 Deletion - Frameshift Large_intestine COSM4630201 SETD1A c.3694C>T p.R1232W Substitution - Missense Large_intestine COSM4761565 PHF6 c.892G>A p.V298I Substitution - Missense Stomach COSM4750627 KDM1B c.291C>G p.D97E Substitution - Missense Stomach COSM4747854 LMNB1 c.95_97delAGA p.K33delK Deletion - In frame Stomach COSM4797283 KIAA2026_ENST00000399933 c.5125G>A p.A1709T Substitution - Missense Liver COSM4794725 TRIM66 c.1753G>A p.A585T Substitution - Missense Liver COSM4798976 CREBBP c.4213G>C p.V1405L Substitution - Missense Liver COSM4803255 ACTR8 c.1022T>G p.L341R Substitution - Missense Liver COSM4902453 JARID2 c.2188C>T p.L730L Substitution - coding silent Skin COSM4936971 SFMBT2 c.86G>A p.G29E Substitution - Missense Liver COSM4838290 KDM2A c.373C>T p.Q125* Substitution - Nonsense Cervix COSM4854718 RSF1 c.579-1G>C p.? Unknown Cervix COSM4993531 KDM6A c.1334C>T p.T445I Substitution - Missense Skin COSM4976410 BAZ2A_ENST00000379441 c.4023A>G p.A1341A Substitution - coding silent Oesophagus COSM5022011 BRD4 c.138G>C p.P46P Substitution - coding silent Bone COSM5016418 PRDM4 c.1964delT p.F655fs*58 Deletion - Frameshift Kidney COSM5054277 RTF1 c.1429A>G p.T477A Substitution - Missense Stomach COSM5054306 TP53BP1 c.5283_5285delAGA p.E1764delE Deletion - In frame Stomach COSM5094924 ATRX c.6092A>C p.E2031A Substitution - Missense Thymus COSM5375178 ARID2 c.4562A>G p.D1521G Substitution - Missense Skin COSM5365092 CARM1 c.1202C>T p.T401I Substitution - Missense Large_intestine COSM5480214 CHD8 c.4032A>G p.E1344E Substitution - coding silent Large_intestine COSM5435376 PRDM9 c.36A>C p.E12D Substitution - Missense Oesophagus COSM5447891 BAG6 c.813C>T p.V271V Substitution - coding silent Large_intestine COSM5427737 CTCF c.1757A>G p.E586G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5633011 KDM2A c.3401G>C p.R1134P Substitution - Missense Oesophagus COSM5649901 ATF2 c.977C>T p.P326L Substitution - Missense Oesophagus COSM5641201 SCMH1 c.478G>T p.A160S Substitution - Missense Oesophagus COSM5718000 SMARCA4 c.1902C>T p.P634P Substitution - coding silent Skin COSM5748960 ZMYM3 c.2206C>T p.R736C Substitution - Missense Pancreas COSM5729678 HDAC6 c.3635C>T p.P1212L Substitution - Missense Skin COSM5577117 TET2 c.1167G>A p.K389K Substitution - coding silent Skin COSM5620323 ATF2 c.42G>T p.K14N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5692896 CLOCK c.570G>C p.Q190H Substitution - Missense Soft_tissue COSM5552218 SMARCC2 c.1302C>G p.D434E Substitution - Missense Prostate COSM5800103 SETD4 c.92C>T p.S31F Substitution - Missense Breast COSM5817133 TAF1L c.3547T>C p.C1183R Substitution - Missense Liver COSM5883419 ATAD2B_ENST00000238789 c.334C>T p.R112* Substitution - Nonsense Large_intestine COSM5940259 EP400 c.4063C>T p.P1355S Substitution - Missense Skin COSM5916815 CHD6 c.2735C>T p.S912F Substitution - Missense Skin COSM5978099 POGZ c.2194C>T p.P732S Substitution - Missense Upper_aerodigestive_tract COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM27524 MSH6 c.? p.E487D Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM166348 DNMT3A c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM51384 IDH1 c.? p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41735 TET2 c.4099C>T p.P1367S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM219068 TET2 c.? p.N312S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM3713909 HDAC6 c.3095C>T p.P1032L Substitution - Missense Upper_aerodigestive_tract COSM1309528 BRPF1 c.2736G>T p.K912N Substitution - Missense Urinary_tract COSM241852 TBL1XR1 c.234_235delAG p.E79fs*11 Deletion - Frameshift Prostate COSM87889 ARID1A c.1015delG p.A339fs*24 Deletion - Frameshift Liver COSM430197 HCFC2 c.1285-1G>A p.? Unknown Urinary_tract COSM5961992 SETD3 c.1437A>G p.V479V Substitution - coding silent Breast COSM3738469 TET2 c.? p.G1869E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2188354 TP53BP1 c.115C>T p.H39Y Substitution - Missense Large_intestine COSM1383306 KAT2A c.1306C>T p.L436F Substitution - Missense Large_intestine COSM4837393 RAI1 c.601C>G p.L201V Substitution - Missense Cervix COSM1731935 ARID1B c.744_745insGGC p.G261_S262insG Insertion - In frame Haematopoietic_and_lymphoid_tissue COSM5903184 AP001011.3_ENST00000320876 c.557G>A p.G186E Substitution - Missense Skin COSM3413629 KIAA1045 c.154G>A p.V52I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2041402 KDM2A c.2577A>G p.E859E Substitution - coding silent Stomach COSM484286 PHF3 c.5672G>A p.R1891Q Substitution - Missense Kidney COSM5672671 SMCHD1 c.285G>A p.E95E Substitution - coding silent Soft_tissue COSM1312881 KMT2C c.2758G>T p.V920L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4179522 JMJD1C c.2818T>G p.L940V Substitution - Missense Large_intestine COSM4793085 EED c.547A>G p.I183V Substitution - Missense Liver COSM920531 KAT6B c.3219G>A p.E1073E Substitution - coding silent Stomach COSM1317796 MGA c.7162_7163delTG p.V2389fs*4 Deletion - Frameshift Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1230389 TRIM66 c.176G>T p.G59V Substitution - Missense Large_intestine COSM2160710 SFMBT2 c.907G>T p.G303W Substitution - Missense Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM4728614 SMYD3 c.308C>T p.A103V Substitution - Missense Large_intestine COSM5908852 MYST3 c.2437-3C>T p.? Unknown Skin COSM5060646 KDM3B c.1582C>T p.Q528* Substitution - Nonsense Stomach COSM452736 KMT2C c.1897delG p.E633fs*2 Deletion - Frameshift Breast COSM5599706 ING1 c.542C>T p.A181V Substitution - Missense Skin COSM1317446 JMJD1C c.3604T>C p.S1202P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4481351 CCDC101 c.24C>T p.S8S Substitution - coding silent Skin COSM3796439 MBD1 c.1633G>C p.E545Q Substitution - Missense Urinary_tract COSM242792 ACTA1 c.885G>T p.L295L Substitution - coding silent Prostate COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM969939 SRCAP c.6151C>A p.L2051M Substitution - Missense Endometrium COSM5669234 PRDM12 c.599T>G p.V200G Substitution - Missense Soft_tissue COSM5715994 MORF4L2 c.660C>T p.S220S Substitution - coding silent Skin COSM2036785 PHRF1 c.1625G>A p.R542Q Substitution - Missense Large_intestine COSM5711652 KDM6A c.2467_2468insTT p.S824fs*44 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3954824 KMT2D c.14520C>A p.P4840P Substitution - coding silent Lung COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4110043 KDM5C c.2848A>G p.M950V Substitution - Missense Stomach COSM3831529 MLL5 c.5172C>T p.S1724S Substitution - coding silent Breast COSM1462025 TAF1L c.126C>T p.F42F Substitution - coding silent Large_intestine COSM3770766 DNMT3B c.389G>A p.R130H Substitution - Missense Pancreas COSM4050626 BAZ1A c.1139A>G p.K380R Substitution - Missense Stomach COSM907723 ARID1A c.4003C>T p.R1335* Substitution - Nonsense Stomach COSM211696 TET2 c.2864_2865insA p.H955fs*17 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM743715 ACTL6B c.627G>A p.E209E Substitution - coding silent Lung COSM5895151 AICDA c.428-4_428-3insTT p.? Unknown Skin COSM5509718 TDRD10 c.721G>A p.E241K Substitution - Missense Biliary_tract COSM4383721 MECOM c.1555A>G p.M519V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2149450 RAG2 c.820G>T p.V274F Substitution - Missense Central_nervous_system COSM99084 MSH6 c.1870G>A p.G624S Substitution - Missense Stomach COSM3427675 DHX30 c.697G>A p.D233N Substitution - Missense Large_intestine COSM1112289 MORF4L2 c.503C>T p.S168L Substitution - Missense Endometrium COSM758037 KDM5D c.550G>T p.E184* Substitution - Nonsense Lung COSM2153783 KMT2C c.12900T>A p.S4300S Substitution - coding silent Central_nervous_system COSM5433187 JARID2 c.1842C>G p.I614M Substitution - Missense Oesophagus COSM365697 KDM6B c.577G>A p.G193R Substitution - Missense Lung COSM5989388 JHDM1D c.884T>C p.L295P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3990640 MBD5 c.4140A>C p.P1380P Substitution - coding silent Kidney COSM3835481 KDM4B c.2745C>G p.L915L Substitution - coding silent Breast COSM3550995 PRDM15 c.2218T>G p.C740G Substitution - Missense Skin COSM4140037 AP001011.3_ENST00000320876 c.1850C>T p.T617I Substitution - Missense Ovary COSM428500 KMT2A c.8606C>T p.S2869L Substitution - Missense Breast COSM5608146 CREBBP c.2389A>T p.N797Y Substitution - Missense Skin COSM4396858 BRWD3 c.4989A>G p.R1663R Substitution - coding silent Skin COSM1719032 HCFC1 c.2504C>T p.S835L Substitution - Missense Skin COSM2059737 PCGF6 c.674C>T p.A225V Substitution - Missense Bone COSM1378194 BRD7 c.260A>G p.E87G Substitution - Missense Large_intestine COSM26609 KDM3B c.247C>T p.H83Y Substitution - Missense Kidney COSM3844850 SUV39H1 c.1224C>T p.R408R Substitution - coding silent Breast COSM216777 KMT2C c.5065G>T p.E1689* Substitution - Nonsense Prostate COSM3843078 MORF4L2 c.589C>T p.Q197* Substitution - Nonsense Breast COSM4021557 PRDM2 c.4020A>G p.K1340K Substitution - coding silent Stomach COSM4072256 SETBP1 c.4762C>T p.R1588* Substitution - Nonsense Stomach COSM1041044 PHC3 c.494C>T p.P165L Substitution - Missense Endometrium COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Central_nervous_system COSM1360180 EP400 c.5216G>A p.C1739Y Substitution - Missense Large_intestine COSM921443 BTAF1 c.4863+1G>T p.? Unknown Endometrium COSM484583 MLL5 c.4194G>T p.E1398D Substitution - Missense Kidney COSM2154853 HDAC4 c.582C>T p.C194C Substitution - coding silent Central_nervous_system COSM321225 KIAA2026_ENST00000399933 c.3854G>T p.R1285L Substitution - Missense Lung COSM289020 KAT5 c.813C>T p.G271G Substitution - coding silent Large_intestine COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Bone COSM160204 CREBBP c.4686G>A p.E1562E Substitution - coding silent Breast COSM257260 L3MBTL3 c.1015G>T p.E339* Substitution - Nonsense Large_intestine COSM5893414 TAF1L c.158G>A p.G53E Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM36166 ASXL1 c.1772_1773insA p.Y591fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5722289 INOC1 c.721C>T p.P241S Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM150849 JMJD1C c.2816_2821delGTTTAG p.G939_L940delGL Deletion - In frame Stomach COSM23153 MEN1 c.? p.Q166* Substitution - Nonsense Parathyroid COSM5355158 SETD2 c.5946C>A p.C1982* Substitution - Nonsense Large_intestine COSM4598379 PHF14 c.1522A>T p.R508* Substitution - Nonsense Upper_aerodigestive_tract COSM4431023 PSIP1 c.172A>T p.I58L Substitution - Missense Oesophagus COSM5609422 KMT2A c.8485C>T p.L2829L Substitution - coding silent Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1226788 SMARCC2 c.328G>A p.D110N Substitution - Missense Oesophagus COSM4633092 KDM5C c.3921G>A p.R1307R Substitution - coding silent Large_intestine COSM5512370 STK31 c.1552G>A p.A518T Substitution - Missense Biliary_tract COSM1567520 PHF15 c.862G>A p.G288S Substitution - Missense Large_intestine COSM971411 CHD9 c.1164G>T p.E388D Substitution - Missense Large_intestine COSM1109431 KIAA2026_ENST00000399933 c.5129T>C p.I1710T Substitution - Missense Endometrium COSM5758717 EP400 c.6029A>T p.Q2010L Substitution - Missense Bone COSM275725 KIAA2026_ENST00000399933 c.6037C>A p.L2013I Substitution - Missense Large_intestine COSM4602266 DNMT3B c.1555C>T p.Q519* Substitution - Nonsense Upper_aerodigestive_tract COSM5702527 BAP1 c.346_346delA p.K116fs*71 Deletion - Frameshift Eye COSM1315984 PRMT1 c.19G>T p.V7L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM144560 DNMT3A c.? p.Q606* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1747738 POGZ c.1582G>A p.G528S Substitution - Missense Urinary_tract COSM5632139 ASH1L c.327A>C p.R109R Substitution - coding silent Oesophagus COSM5894938 KMT2A c.3570-5C>T p.? Unknown Skin COSM144220 ATRX c.6761A>G p.H2254R Substitution - Missense Central_nervous_system COSM4615864 KDM4A c.1505_1506insTTGTCT p.S502_G503insCL Insertion - In frame Large_intestine COSM207998 MECOM c.1839delA p.G614fs*30 Deletion - Frameshift Large_intestine COSM85913 IKZF1 c.1-?_160+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1122960 KDM5C c.1720A>G p.N574D Substitution - Missense Endometrium COSM3525416 ASXL3 c.478G>A p.E160K Substitution - Missense Skin COSM912559 RERE c.1246_1248delTTC p.F416delF Deletion - In frame Endometrium COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM468037 EP400 c.8226A>G p.Q2742Q Substitution - coding silent Thyroid COSM1658954 SMARCA2 c.2564G>A p.R855Q Substitution - Missense Salivary_gland COSM216343 INOC1 c.4123G>A p.E1375K Substitution - Missense Pancreas COSM2210668 ASH1L c.6091C>T p.P2031S Substitution - Missense Large_intestine COSM449594 NIPBL c.3923C>T p.A1308V Substitution - Missense Breast COSM3710445 RSF1 c.1773C>T p.S591S Substitution - coding silent Upper_aerodigestive_tract COSM4766168 TET2 c.4133_4133delG p.C1378fs*70 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4003461 NSD1 c.6829T>C p.L2277L Substitution - coding silent Soft_tissue COSM1026857 CHD6 c.5069T>G p.I1690S Substitution - Missense Endometrium COSM970610 CREBBP c.1103_1104insA p.R369fs*58 Insertion - Frameshift Endometrium COSM5919341 ING3 c.389C>T p.S130L Substitution - Missense Skin COSM34192 ASXL1 c.? p.G646fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4913547 NSD1 c.60G>A p.V20V Substitution - coding silent Liver COSM3932171 MORF4L1 c.675C>A p.A225A Substitution - coding silent Urinary_tract COSM1490669 HCFC1 c.1238C>T p.A413V Substitution - Missense Breast COSM3763392 PRDM14 c.963G>A p.T321T Substitution - coding silent Large_intestine COSM3814506 PRMT5 c.507G>A p.E169E Substitution - coding silent Breast COSM1083 SMARCB1 c.?_?del? p.?del Deletion - In frame Soft_tissue COSM436133 RAI1 c.493C>A p.P165T Substitution - Missense Thyroid COSM225792 NCOA6 c.6043C>T p.R2015* Substitution - Nonsense Skin COSM3583119 SMYD5 c.404C>T p.T135I Substitution - Missense Skin COSM2001150 EP400 c.7877C>T p.A2626V Substitution - Missense Large_intestine COSM3604083 GABRG1 c.1245C>T p.F415F Substitution - coding silent Skin COSM272705 FXR1 c.364delA p.N124fs*14 Deletion - Frameshift Large_intestine COSM5406008 ACTL6B c.877G>A p.D293N Substitution - Missense Skin COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM994275 LMNB2 c.1494G>A p.T498T Substitution - coding silent Endometrium COSM215911 SETD2 c.5628_5629insC p.S1879fs*47 Insertion - Frameshift Central_nervous_system COSM5979867 EPC1 c.1570T>C p.C524R Substitution - Missense Upper_aerodigestive_tract COSM4957478 ERCC6 c.4401A>G p.R1467R Substitution - coding silent Liver COSM3482143 RBBP5 c.941C>T p.S314F Substitution - Missense Skin COSM6015446 PRMT5 c.875C>T p.P292L Substitution - Missense Skin COSM328978 KMT2C c.8390delA p.K2797fs*26 Deletion - Frameshift Stomach COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM88739 CREBBP c.4349A>G p.Y1450C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4766101 TET2 c.4241A>G p.Q1414R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4414018 HDAC11 c.240T>G p.L80L Substitution - coding silent Kidney COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM13881 MBD4 c.1418T>G p.M473R Substitution - Missense Lung COSM427632 ERCC6 c.3510G>A p.E1170E Substitution - coding silent Breast COSM479506 ZBTB38 c.379T>C p.F127L Substitution - Missense Kidney COSM1716639 ATRX c.1597G>T p.E533* Substitution - Nonsense Central_nervous_system COSM1718013 ALKBH1 c.110C>T p.T37I Substitution - Missense Skin COSM4950574 PRDM1 c.1574C>A p.T525N Substitution - Missense Liver COSM26577 MECOM c.2286-1G>A p.? Unknown Skin COSM5658312 DOT1L c.3996T>C p.S1332S Substitution - coding silent Soft_tissue COSM1665031 WHSC1L1 c.594A>T p.K198N Substitution - Missense Kidney COSM5760240 BRWD1 c.5273A>T p.E1758V Substitution - Missense Bone COSM1667286 ARID1A c.1683G>C p.Q561H Substitution - Missense Large_intestine COSM4766175 TET2 c.1647_1648insA p.R550fs*17 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3858405 EYA4 c.529G>A p.V177I Substitution - Missense Bone COSM3790886 SIRT1 c.1411C>T p.H471Y Substitution - Missense Urinary_tract COSM697914 BAZ1A c.624A>G p.K208K Substitution - coding silent Lung COSM4451536 CHD9 c.1274A>T p.Q425L Substitution - Missense Skin COSM4429728 KDM6A c.3502G>T p.V1168F Substitution - Missense Oesophagus COSM5971823 FTO c.857C>T p.A286V Substitution - Missense Upper_aerodigestive_tract COSM5608700 EZH2 c.924C>A p.P308P Substitution - coding silent Skin COSM1316066 KMT2D c.7591C>T p.R2531* Substitution - Nonsense Oesophagus COSM2802801 CBX8 c.611G>A p.R204Q Substitution - Missense Large_intestine COSM1302460 SMYD4 c.1335C>G p.L445L Substitution - coding silent Cervix COSM4152449 SETD2 c.6029C>T p.T2010I Substitution - Missense Kidney COSM1035231 BRD1 c.2317G>A p.E773K Substitution - Missense Stomach COSM4455179 ZMYND11 c.572A>T p.Y191F Substitution - Missense Skin COSM1060888 PHF15 c.237C>A p.D79E Substitution - Missense Endometrium COSM1088805 CBX3 c.94G>A p.V32M Substitution - Missense Endometrium COSM3528098 DNMT1 c.3671C>T p.P1224L Substitution - Missense Skin COSM3411350 ZCWPW1 c.44C>G p.P15R Substitution - Missense Central_nervous_system COSM4401613 ARID1A c.2758C>T p.Q920* Substitution - Nonsense Skin COSM4689684 HDAC4 c.954C>T p.P318P Substitution - coding silent Large_intestine COSM1604165 KMT2A c.4131G>A p.L1377L Substitution - coding silent Liver COSM1989275 MBD6 c.2679G>A p.W893* Substitution - Nonsense Large_intestine COSM4385599 TET2 c.3545_3546insGAA p.Y1182>* Unknown Haematopoietic_and_lymphoid_tissue COSM5702628 BAP1 c.256-1_256insG p.? Unknown Eye COSM426319 KDM4A c.383A>G p.N128S Substitution - Missense Breast COSM4954343 PRDM2 c.143A>C p.K48T Substitution - Missense Liver COSM1257982 MSH6 c.4070T>A p.I1357N Substitution - Missense Oesophagus COSM85817 DAXX c.1342G>T p.E448* Substitution - Nonsense Pancreas COSM3693690 CHD6 c.2390C>T p.A797V Substitution - Missense Large_intestine COSM5019889 SETBP1 c.3388C>A p.P1130T Substitution - Missense Soft_tissue COSM5053749 BRDT c.2211A>G p.L737L Substitution - coding silent Stomach COSM81804 TET1 c.3621T>G p.P1207P Substitution - coding silent Ovary COSM3022510 ARID1B c.6672A>G p.V2224V Substitution - coding silent Large_intestine COSM5889300 CDYL2 c.380G>A p.G127E Substitution - Missense Skin COSM3735021 SMARCA4 c.3531_3531delC p.W1178fs*38 Deletion - Frameshift Ovary COSM5990636 ARID1A c.2657C>T p.P886L Substitution - Missense Liver COSM221582 DNMT3A c.2678G>C p.W893S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1412231 ZMYND8 c.3026C>T p.A1009V Substitution - Missense Large_intestine COSM4949773 KDM4C c.2068T>C p.C690R Substitution - Missense Liver COSM1640467 MYST1 c.295C>T p.R99W Substitution - Missense Large_intestine COSM4606322 IKZF1 c.551G>C p.R184P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4534317 SFMBT2 c.2075G>A p.R692K Substitution - Missense Skin COSM5599468 EP400 c.5622G>A p.L1874L Substitution - coding silent Skin COSM1453160 TRRAP c.3481G>A p.V1161M Substitution - Missense Large_intestine COSM4642983 NSD1 c.5580C>T p.D1860D Substitution - coding silent Skin COSM3921881 TDRD6 c.2786C>T p.S929L Substitution - Missense Skin COSM3923204 KMT2C c.2905G>A p.G969R Substitution - Missense Soft_tissue COSM96433 EP300 c.5095delA p.N1700fs*9 Deletion - Frameshift Breast COSM432837 CHD8 c.4900C>G p.L1634V Substitution - Missense Breast COSM21471 HNF1A c.617G>T p.W206L Substitution - Missense Liver COSM1667534 RAD54L c.489C>A p.F163L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5051155 RSF1 c.343A>C p.S115R Substitution - Missense Stomach COSM1945455 PRDM4 c.1610-6T>A p.? Unknown Large_intestine COSM1420703 TBL1XR1 c.1183T>C p.Y395H Substitution - Missense Large_intestine COSM184228 ARID1A c.1561C>T p.Q521* Substitution - Nonsense Large_intestine COSM1187515 ELP3 c.1384C>T p.R462C Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM13368 TAF1L c.2625G>A p.G875G Substitution - coding silent Skin COSM940014 KMT2D c.10309C>T p.R3437* Substitution - Nonsense Upper_aerodigestive_tract COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4461677 TET2 c.1216C>T p.L406F Substitution - Missense Skin COSM2834916 CHD9 c.6298A>G p.T2100A Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM13921 SMARCA4 c.2290T>A p.W764R Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4692521 INOC1 c.2638A>G p.K880E Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3251541 ATAT1 c.772C>T p.R258C Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3460961 ARID2 c.647C>T p.S216F Substitution - Missense Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM94806 NCOA2 c.2174G>T p.G725V Substitution - Missense Lung COSM4700954 MBD1 c.962T>C p.V321A Substitution - Missense Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3728228 PHF21B c.760G>A p.E254K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM211720 TET2 c.3812G>A p.C1271Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4851689 CREBBP c.4413C>G p.I1471M Substitution - Missense Cervix COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1742336 KMT2D c.14332C>T p.R4778C Substitution - Missense Urinary_tract COSM3636515 KMT2C c.4784C>T p.P1595L Substitution - Missense Skin COSM51243 ARID1A c.1881_1881delT p.D627fs*2 Deletion - Frameshift Ovary COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3461625 KMT2D c.1588C>T p.P530S Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2919907 CREBBP c.6213G>A p.L2071L Substitution - coding silent Large_intestine COSM462450 ATRX c.? p.? Unknown Adrenal_gland COSM1628164 DPF2 c.686C>T p.A229V Substitution - Missense Liver COSM99740 DNMT3A c.2645G>C p.R882P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3374443 MLL5 c.557-1G>T p.? Unknown Thyroid COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM390152 MBD5 c.3057G>A p.V1019V Substitution - coding silent Lung COSM404889 MLL5 c.847delC p.R283fs*21 Deletion - Frameshift Lung COSM5993052 PRDM16 c.3109+9C>T p.? Unknown Prostate COSM3396079 BAZ2A_ENST00000379441 c.4579C>T p.R1527W Substitution - Missense Prostate COSM4031486 HDAC1 c.685C>T p.R229* Substitution - Nonsense Stomach COSM263785 AP001011.3_ENST00000320876 c.5126C>T p.S1709L Substitution - Missense Large_intestine COSM4529383 BRDT c.1595G>A p.R532Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4680476 EHMT1 c.369C>A p.T123T Substitution - coding silent Large_intestine COSM3786511 MGA c.2061T>C p.S687S Substitution - coding silent Pancreas COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Pancreas COSM4590631 GLYR1 c.1377C>G p.H459Q Substitution - Missense Upper_aerodigestive_tract COSM4831082 SMCHD1 c.448G>A p.E150K Substitution - Missense Cervix COSM126101 SETBP1 c.3056G>A p.R1019H Substitution - Missense Stomach COSM5607876 ARID2 c.3597delA p.G1200fs*4 Deletion - Frameshift Skin COSM2006645 KMT2D c.14493C>T p.T4831T Substitution - coding silent Upper_aerodigestive_tract COSM1483636 CHD6 c.6819C>G p.V2273V Substitution - coding silent Breast COSM4844132 CTCF c.1514G>C p.R505T Substitution - Missense Cervix COSM1007210 MBD5 c.145C>T p.Q49* Substitution - Nonsense Endometrium COSM1381239 RAI1 c.4360delG p.A1455fs*21 Deletion - Frameshift Large_intestine COSM1381776 PHF12 c.1190C>T p.A397V Substitution - Missense Large_intestine COSM3463393 SMARCC2 c.1396C>T p.R466* Substitution - Nonsense Skin COSM1293296 KAT6B c.1799A>G p.H600R Substitution - Missense Cervix COSM716478 MBD5 c.760A>T p.N254Y Substitution - Missense Lung COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM29495 SMARCB1 c.1145delC p.P383fs*4 Deletion - Frameshift Central_nervous_system COSM1105 SMARCB1 c.1-405G>A p.? Unknown Soft_tissue COSM52519 BAP1 c.376-9_416del50 p.? Unknown Eye COSM46330 TET2 c.1973_1974delAC p.H658fs*22 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM106683 ASH1L c.4862C>T p.S1621F Substitution - Missense Skin COSM110708 ASXL1 c.1782C>A p.C594* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM127777 DAXX c.1803A>G p.L601L Substitution - coding silent Upper_aerodigestive_tract COSM133027 ARID1A c.1585C>T p.Q529* Substitution - Nonsense Pancreas COSM136645 KMT2C c.13996C>G p.L4666V Substitution - Missense Skin COSM147293 RSF1 c.3900A>G p.L1300L Substitution - coding silent Stomach COSM165145 TRIM66 c.842G>A p.G281E Substitution - Missense Breast COSM164274 SETD1A c.1072C>T p.Q358* Substitution - Nonsense Breast COSM184236 ARID1A c.2077C>T p.R693* Substitution - Nonsense Endometrium COSM215752 SMARCA4 c.3694G>A p.G1232S Substitution - Missense Kidney COSM223482 RSF1 c.847G>A p.E283K Substitution - Missense Skin COSM253092 RUVBL1 c.514-3delT p.? Unknown Skin COSM273327 TAF1L c.1907G>A p.R636H Substitution - Missense Large_intestine COSM298325 ARID1A c.3978_3980delGCA p.Q1334delQ Deletion - In frame Endometrium COSM344546 MYST2 c.1389A>G p.E463E Substitution - coding silent Lung COSM362758 MBD6 c.344G>A p.R115H Substitution - Missense Endometrium COSM376783 ZGPAT c.21G>A p.E7E Substitution - coding silent Lung COSM397716 SP100 c.435A>T p.E145D Substitution - Missense Lung COSM423050 PBRM1 c.529-16_532del20 p.? Unknown Kidney COSM423104 PBRM1 c.2618_2625delTTAAAATT p.I873fs*2 Deletion - Frameshift Kidney COSM425437 LBR c.900T>C p.Y300Y Substitution - coding silent Breast COSM471812 CHD9 c.4945G>A p.V1649I Substitution - Missense Kidney COSM979423 KAT2A c.753G>A p.R251R Substitution - coding silent Endometrium COSM484586 MLL5 c.5037A>C p.P1679P Substitution - coding silent Thyroid COSM488569 ZMYM3 c.150T>C p.P50P Substitution - coding silent Kidney COSM606052 CHD7 c.7680C>A p.P2560P Substitution - coding silent Skin COSM685446 SFMBT2 c.536G>T p.G179V Substitution - Missense Lung COSM1030472 SETD4 c.148T>C p.L50L Substitution - coding silent Endometrium COSM939706 HDAC7 c.1830G>T p.Q610H Substitution - Missense Endometrium COSM972466 CTCF c.214C>T p.Q72* Substitution - Nonsense Kidney COSM919499 JMJD1C c.1848G>T p.Q616H Substitution - Missense Endometrium COSM923579 KMT2A c.3766A>C p.K1256Q Substitution - Missense Endometrium COSM958211 ALKBH1 c.372G>T p.Q124H Substitution - Missense Endometrium COSM999866 KDM4B c.2680G>A p.D894N Substitution - Missense Stomach COSM1045467 SETD2 c.3170A>G p.K1057R Substitution - Missense Endometrium COSM1114787 SMARCA1 c.1852C>T p.R618C Substitution - Missense Endometrium COSM1105708 SET c.469G>A p.E157K Substitution - Missense Endometrium COSM1096257 PHF20L1 c.389G>T p.R130I Substitution - Missense Endometrium COSM1231711 UHRF2 c.721G>T p.E241* Substitution - Nonsense Large_intestine COSM1246002 BAZ2B c.5813G>A p.R1938Q Substitution - Missense Oesophagus COSM1238711 DNMT1 c.2262G>A p.A754A Substitution - coding silent Oesophagus COSM1252632 FMR1 c.1447A>G p.R483G Substitution - Missense Oesophagus COSM1209380 HDAC4 c.1100C>T p.T367M Substitution - Missense Large_intestine COSM1200990 CHD6 c.7886C>A p.S2629Y Substitution - Missense Large_intestine COSM1195639 BRD7 c.1487C>T p.A496V Substitution - Missense Lung COSM1303967 SMARCA4 c.37C>T p.R13W Substitution - Missense Urinary_tract COSM1425790 BRPF1 c.47C>T p.A16V Substitution - Missense Large_intestine COSM1407050 NCOA1 c.2586T>C p.T862T Substitution - coding silent Large_intestine COSM1411326 NCOA6 c.1316C>T p.S439F Substitution - Missense Large_intestine COSM1440430 L3MBTL3 c.1838G>T p.R613I Substitution - Missense Large_intestine COSM1361683 ARID2 c.1277C>T p.T426M Substitution - Missense Large_intestine COSM1615832 DIDO1 c.3116G>T p.R1039L Substitution - Missense Liver COSM1629915 BRD7 c.470C>G p.S157* Substitution - Nonsense Liver COSM1581871 TRRAP c.8383A>G p.I2795V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1580559 BAZ1A c.3661A>G p.S1221G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1632328 ZMYND8 c.3165A>T p.T1055T Substitution - coding silent Liver COSM1639818 ARID1A c.4350delC p.Q1452fs*29 Deletion - Frameshift Endometrium COSM1682569 KDM6A c.3614T>G p.V1205G Substitution - Missense Large_intestine COSM1643029 DAXX c.1820T>C p.M607T Substitution - Missense Stomach COSM1679022 SRCAP c.8306A>G p.Q2769R Substitution - Missense Large_intestine COSM1718608 DIDO1 c.6046C>T p.P2016S Substitution - Missense Skin COSM1730617 PHRF1 c.2429A>G p.E810G Substitution - Missense Liver COSM1756909 CHD2 c.2338C>T p.Q780* Substitution - Nonsense Urinary_tract COSM1746594 RSF1 c.2069G>A p.G690D Substitution - Missense Urinary_tract COSM1744785 ZMYM2 c.2037A>T p.T679T Substitution - coding silent Biliary_tract COSM1936738 BAZ2A_ENST00000379441 c.333C>T p.P111P Substitution - coding silent Oesophagus COSM2030023 CHD8 c.4419T>C p.R1473R Substitution - coding silent Large_intestine COSM2044778 PHC1 c.1894-8C>T p.? Unknown Prostate COSM2078395 PRDM16 c.1505C>T p.T502M Substitution - Missense Large_intestine COSM2145471 ERCC6 c.1671T>C p.R557R Substitution - coding silent Upper_aerodigestive_tract COSM2834889 CHD9 c.4692G>A p.Q1564Q Substitution - coding silent Stomach COSM3153153 EP300 c.3927T>C p.F1309F Substitution - coding silent Large_intestine COSM3189298 EZH1 c.1015C>T p.L339F Substitution - Missense Large_intestine COSM3402216 JMJD5 c.630C>T p.G210G Substitution - coding silent Central_nervous_system COSM3417479 RNF17 c.696G>T p.E232D Substitution - Missense Large_intestine COSM3458536 ATF7IP c.1535C>T p.S512L Substitution - Missense Skin COSM3622291 ARID1B c.4669C>T p.L1557L Substitution - coding silent Skin COSM3642830 TRRAP c.9497C>T p.S3166L Substitution - Missense Skin COSM3636969 HDAC9 c.43C>T p.P15S Substitution - Missense Skin COSM3635740 EZH2 c.1291C>T p.P431S Substitution - Missense Skin COSM3594687 SETD2 c.237C>T p.I79I Substitution - coding silent Skin COSM3546372 CHD6 c.2159C>T p.S720F Substitution - Missense Skin COSM3546375 CHD6 c.1027C>T p.R343C Substitution - Missense Skin COSM3567450 MBD5 c.2417C>T p.S806F Substitution - Missense Skin COSM3704149 ARID2 c.4888C>T p.Q1630* Substitution - Nonsense Liver COSM3719466 ASXL1 c.2147delC p.A716fs*9 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3762397 TRIM24 c.2589A>G p.G863G Substitution - coding silent Soft_tissue COSM3772330 EP400 c.2311C>T p.R771C Substitution - Missense Pancreas COSM3807283 ERCC6 c.1207G>A p.E403K Substitution - Missense Breast COSM3858847 SHPRH c.3236A>G p.H1079R Substitution - Missense Stomach COSM3857234 PRDM1 c.128C>T p.A43V Substitution - Missense Stomach COSM3869607 GLYATL1 c.82G>A p.E28K Substitution - Missense Skin COSM3854561 PRDM9 c.279A>C p.E93D Substitution - Missense Stomach COSM3844742 KDM6A c.3766T>C p.Y1256H Substitution - Missense Breast COSM3920760 EYA4 c.863C>T p.S288L Substitution - Missense Skin COSM3875670 PHIP c.3728G>A p.S1243N Substitution - Missense Upper_aerodigestive_tract COSM3900884 CHD7 c.8090A>G p.E2697G Substitution - Missense Stomach COSM3899364 ELP3 c.1471A>G p.K491E Substitution - Missense Stomach COSM3973881 ATRX c.6515A>C p.E2172A Substitution - Missense Central_nervous_system COSM3972782 PRDM15 c.3725G>A p.R1242Q Substitution - Missense Central_nervous_system COSM4022053 SETDB1 c.305A>C p.K102T Substitution - Missense Stomach COSM4041991 ARID2 c.3286C>T p.Q1096* Substitution - Nonsense Stomach COSM4053394 SETD3 c.1062C>A p.A354A Substitution - coding silent Stomach COSM3987066 SMARCC2 c.3343A>C p.N1115H Substitution - Missense Kidney COSM4121125 TET2 c.1214T>G p.L405R Substitution - Missense Stomach COSM4121156 INTS12 c.321C>T p.D107D Substitution - coding silent Stomach COSM4119248 SFMBT1 c.2248C>A p.L750M Substitution - Missense Stomach COSM4149821 KAT2B c.2156+5G>A p.? Unknown Ovary COSM4162018 KMT2C c.2315C>T p.S772L Substitution - Missense Upper_aerodigestive_tract COSM4165523 SIRT1 c.874G>T p.D292Y Substitution - Missense Kidney COSM4403075 GATAD2B c.1532C>T p.A511V Substitution - Missense Skin COSM4605380 SETBP1 c.4403C>G p.S1468C Substitution - Missense Upper_aerodigestive_tract COSM4418778 ERCC6 c.3637A>C p.R1213R Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4537128 TRRAP c.2384G>C p.S795T Substitution - Missense Skin COSM4593308 CREBBP c.6682C>G p.H2228D Substitution - Missense Upper_aerodigestive_tract COSM4437840 TBL1XR1 c.232delA p.I78fs*1 Deletion - Frameshift Oesophagus COSM4483256 TRIM66 c.2688C>T p.I896I Substitution - coding silent Skin COSM4666193 BRPF1 c.1087G>A p.A363T Substitution - Missense Large_intestine COSM4679197 DOT1L c.1874C>A p.A625D Substitution - Missense Large_intestine COSM4695064 JMJD5 c.351C>T p.A117A Substitution - coding silent Large_intestine COSM4663233 ARID1A c.5872G>A p.E1958K Substitution - Missense Large_intestine COSM4702438 KMT2D c.4144G>A p.G1382S Substitution - Missense Large_intestine COSM4787724 BAZ2A c.3089A>G p.K1030R Substitution - Missense Liver COSM4888165 SCML2 c.1438C>A p.H480N Substitution - Missense Upper_aerodigestive_tract COSM4904542 SMYD2 c.498C>T p.F166F Substitution - coding silent Skin COSM4935525 BPTF c.5714A>G p.E1905G Substitution - Missense Liver COSM4957707 TDRD3 c.1886G>T p.G629V Substitution - Missense Liver COSM4974566 NCOA2 c.3868C>T p.R1290W Substitution - Missense Oesophagus COSM4985350 EYA1 c.58C>G p.P20A Substitution - Missense Soft_tissue COSM5025104 MEN1 c.655-5delC p.? Unknown Biliary_tract COSM5015390 PRMT7 c.1916G>A p.C639Y Substitution - Missense Kidney COSM5202318 ARID1A c.4768delC p.L1591fs*21 Deletion - Frameshift Breast COSM5399496 SMARCC1 c.1581C>T p.A527A Substitution - coding silent Skin COSM5370433 TRDMT1 c.232_233CC>TT p.P78F Substitution - Missense Skin COSM5358313 TRRAP c.5683G>A p.A1895T Substitution - Missense Large_intestine COSM5490840 JARID2 c.3472G>A p.V1158I Substitution - Missense Biliary_tract COSM5471518 EP300 c.5185G>A p.D1729N Substitution - Missense Large_intestine COSM5470576 CDYL2 c.617-2A>G p.? Unknown Large_intestine COSM5446592 ZBTB33 c.578_579insCGA p.D194_V195insD Insertion - In frame Thyroid COSM5456125 GATAD2B c.1676G>A p.G559D Substitution - Missense Large_intestine COSM5451120 KMT2A c.5447A>T p.Q1816L Substitution - Missense Large_intestine COSM5761400 KDM6A c.2007delC p.Q670fs*21 Deletion - Frameshift Pancreas COSM5755325 DOT1L c.1399G>A p.V467M Substitution - Missense Large_intestine COSM5720373 KDM3B c.3621C>T p.A1207A Substitution - coding silent Skin COSM5720733 PRDM1 c.1513C>T p.P505S Substitution - Missense Skin COSM5621432 ORC1 c.652G>A p.A218T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5711552 MECP2 c.550A>C p.T184P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5703182 NIPBL c.733G>T p.E245* Substitution - Nonsense Autonomic_ganglia COSM5574171 ARID1A c.5779G>C p.A1927P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5550586 KDM2B c.1542C>T p.A514A Substitution - coding silent Prostate COSM5803859 BAZ1A c.685A>G p.K229E Substitution - Missense Liver COSM5913001 BTAF1 c.3983C>T p.P1328L Substitution - Missense Skin COSM6007926 KDM2B c.2719G>A p.D907N Substitution - Missense Prostate COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM5702537 BAP1 c.438-?_2056+?del? p.? Unknown Eye COSM1738141 EZH2 c.? p.D664A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM132990 ASXL1 c.? p.G645fs*12 Frameshift Haematopoietic_and_lymphoid_tissue COSM3735003 TET2 c.? p.N196K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM131566 IDH2 c.? p.R172G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Breast COSM53220 IDH1 c.? p.? Unknown Bone COSM5753360 PBRM1 c.? p.H573fs*? Frameshift Kidney COSM1666676 SETBP1 c.? p.I871T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5576339 SMARCB1 c.796-?_1118+?del p.? Unknown Central_nervous_system COSM294091 ACTR8 c.383G>A p.R128H Substitution - Missense Biliary_tract COSM82288 PHIP c.4746A>G p.E1582E Substitution - coding silent Ovary COSM3370176 TP53BP1 c.2886G>A p.E962E Substitution - coding silent Thyroid COSM3696008 KAT2B c.1274C>A p.P425Q Substitution - Missense Large_intestine COSM1716167 TET2 c.3863G>T p.G1288V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM1194158 HDAC10 c.782C>T p.S261L Substitution - Missense Lung COSM4606361 PHF6 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1245559 ASH1L c.273C>A p.L91L Substitution - coding silent Oesophagus COSM3878489 TRIM24 c.1676C>T p.A559V Substitution - Missense Stomach COSM218525 AKAP1 c.2483G>A p.S828N Substitution - Missense Pancreas COSM4389077 MLL5 c.3523A>G p.K1175E Substitution - Missense Pancreas COSM30571 SMARCA4 c.805delC p.M272fs*31 Deletion - Frameshift Lung COSM384220 MGMT c.545G>A p.G182E Substitution - Missense Lung COSM43489 TET2 c.2540_2543delAGAC p.Q847fs*25 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4434112 KDM6A c.1065G>A p.W355* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4834308 CHD9 c.6848C>G p.S2283* Substitution - Nonsense Cervix COSM5056866 KDM4B c.2162G>A p.R721H Substitution - Missense Stomach COSM3737590 CREBBP c.152T>G p.L51* Substitution - Nonsense Soft_tissue COSM3563687 BRWD3 c.1407C>T p.F469F Substitution - coding silent Skin COSM710135 SMARCA4 c.34C>T p.P12S Substitution - Missense Lung COSM5585565 KDM4A c.767C>T p.P256L Substitution - Missense Skin COSM5038687 HDAC7 c.2756_2758delAAG p.E919delE Deletion - In frame Liver COSM5587487 CHD6 c.2947C>T p.L983L Substitution - coding silent Skin COSM1734086 ARID1A c.4348G>A p.G1450S Substitution - Missense Pancreas COSM52844 PBRM1 c.1569G>T p.M523I Substitution - Missense Kidney COSM5429353 ZGPAT c.422C>G p.S141C Substitution - Missense Oesophagus COSM3760262 SETD5_ENST00000402198 c.3330T>C p.T1110T Substitution - coding silent Large_intestine COSM3654711 SET c.433C>T p.L145L Substitution - coding silent Skin COSM5738177 TRIM24 c.2609G>A p.C870Y Substitution - Missense Small_intestine COSM1702760 BTAF1 c.412C>T p.P138S Substitution - Missense Skin COSM5968098 FTO c.961C>A p.H321N Substitution - Missense Genital_tract COSM1399865 EPC2 c.2351+1_2351+2delGT p.? Unknown Large_intestine COSM1299385 ARID2 c.3617C>T p.T1206M Substitution - Missense Stomach COSM3728120 JMJD6 c.869G>T p.S290I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1331672 BRWD3 c.3481+2T>A p.? Unknown Ovary COSM1087645 KMT2C c.2522G>A p.R841Q Substitution - Missense Endometrium COSM1684652 EP300 c.5099delA p.N1700fs*9 Deletion - Frameshift Large_intestine COSM4162008 KMT2C c.2578C>T p.P860S Substitution - Missense Lung COSM5967144 ARID1A c.964_988del25 p.D322fs*33 Deletion - Frameshift Salivary_gland COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM1041555 ACTL6A c.490C>T p.R164C Substitution - Missense Endometrium COSM387885 ELP3 c.1211G>C p.R404T Substitution - Missense Lung COSM5593217 SMYD1 c.1241G>A p.G414E Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM395880 ADNP c.2028C>T p.T676T Substitution - coding silent Biliary_tract COSM4049921 PRMT5 c.1490A>G p.Q497R Substitution - Missense Stomach COSM5509634 INO80B c.990delG p.E334fs*>10 Deletion - Frameshift Biliary_tract COSM3737224 PHIP c.610_611insACTA p.C205fs*1 Insertion - Frameshift Soft_tissue COSM4421768 NCOA2 c.3628_3629insA p.I1210fs*22 Insertion - Frameshift Pleura COSM450631 SHPRH c.3904G>C p.E1302Q Substitution - Missense Breast COSM3589887 MECOM c.899C>T p.S300F Substitution - Missense Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4163051 NCOA2 c.2524G>T p.D842Y Substitution - Missense Thyroid COSM43417 TET2 c.2746C>T p.Q916* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5728546 TDRD6 c.101G>A p.G34E Substitution - Missense Skin COSM5548327 DOT1L c.3046G>A p.A1016T Substitution - Missense Prostate COSM1117733 HCFC1 c.3415G>T p.A1139S Substitution - Missense Endometrium COSM41292 IDH1 c.? p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4826422 RTF1 c.1176G>A p.L392L Substitution - coding silent Cervix COSM4922793 PRDM2 c.798G>T p.L266F Substitution - Missense Liver COSM5801997 ARID1A c.1108_1109insG p.Q372fs*28 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4468424 PRDM4 c.1542C>T p.T514T Substitution - coding silent Skin COSM3508925 SRCAP c.8591C>T p.P2864L Substitution - Missense Skin COSM1180446 KDM6A c.2880T>G p.C960W Substitution - Missense Prostate COSM1587020 ZMYM2 c.2272T>G p.F758V Substitution - Missense Endometrium COSM1121693 PHF16 c.956C>T p.T319M Substitution - Missense Endometrium COSM1429106 WHSC1 c.3379A>G p.I1127V Substitution - Missense Large_intestine COSM5015435 CHD3 c.473C>T p.T158M Substitution - Missense Kidney COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Large_intestine COSM3691945 SIRT7 c.423C>T p.S141S Substitution - coding silent Large_intestine COSM21194 TRIM33 c.3255C>T p.T1085T Substitution - coding silent Skin COSM1287121 PHRF1 c.2479G>A p.E827K Substitution - Missense Breast COSM4539112 TDRD5 c.2487G>A p.K829K Substitution - coding silent Skin COSM3911309 CHD6 c.7838T>G p.L2613R Substitution - Missense Skin COSM4384354 KMT2C c.1915G>T p.G639C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4060218 SRCAP c.9359C>T p.T3120I Substitution - Missense Stomach COSM5964258 CREBBP c.5205G>A p.T1735T Substitution - coding silent Breast COSM1406093 SP110 c.886delA p.S296fs*36 Deletion - Frameshift Large_intestine COSM937496 ATF7IP c.1468G>T p.E490* Substitution - Nonsense Endometrium COSM4952082 TBL1XR1 c.142G>T p.A48S Substitution - Missense Liver COSM3401707 BAHD1 c.655C>T p.R219W Substitution - Missense Central_nervous_system COSM3568259 BAZ2B c.3578T>C p.L1193P Substitution - Missense Skin COSM1329721 BRPF3 c.770G>A p.R257H Substitution - Missense Ovary COSM1034778 TCF20 c.983T>C p.V328A Substitution - Missense Endometrium COSM4797379 SETD2 c.5729+1G>A p.? Unknown Liver COSM110749 TET2 c.685_686insA p.T229fs*25 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5594958 NCOA6 c.1550C>T p.P517L Substitution - Missense Skin COSM4061905 CTCF c.1518+1G>A p.? Unknown Stomach COSM5604684 RERE c.3397T>C p.F1133L Substitution - Missense Skin COSM4022818 TDRD10 c.887G>A p.R296H Substitution - Missense Stomach COSM5936439 CARM1 c.859C>T p.P287S Substitution - Missense Skin COSM1472234 SCML2 c.1313C>T p.P438L Substitution - Missense Prostate COSM5895178 KMT2C c.162-6_162-5insT p.? Unknown Upper_aerodigestive_tract COSM255311 SMARCA4 c.3304T>C p.F1102L Substitution - Missense Pancreas COSM1061331 KDM3B c.1918T>C p.F640L Substitution - Missense Endometrium COSM5403281 PRDM9 c.139G>A p.E47K Substitution - Missense Skin COSM144495 DNMT3A c.2322+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5773803 BAP1 c.1224C>T p.D408D Substitution - coding silent Breast COSM4402526 BRD4 c.2022T>G p.C674W Substitution - Missense Skin COSM1161914 KDM5C c.4213G>C p.E1405Q Substitution - Missense Kidney COSM2687766 NIPBL c.966A>G p.K322K Substitution - coding silent Large_intestine COSM4453730 GLYATL1 c.33A>T p.S11S Substitution - coding silent Skin COSM1623361 TRRAP c.7249C>T p.L2417L Substitution - coding silent Liver COSM4649865 KMT2D c.10911A>G p.Q3637Q Substitution - coding silent Large_intestine COSM133725 DNMT3A c.315C>A p.S105R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM961540 MGA c.8076C>T p.D2692D Substitution - coding silent Endometrium COSM1034566 EP300 c.4467_4468insG p.A1490fs*3 Insertion - Frameshift Endometrium COSM3397685 PRDM11 c.91G>A p.E31K Substitution - Missense Central_nervous_system COSM98210 SFMBT2 c.2648G>C p.R883T Substitution - Missense Upper_aerodigestive_tract COSM369308 CHD6 c.5794G>T p.A1932S Substitution - Missense Lung COSM4672021 CHD4 c.1324G>A p.E442K Substitution - Missense Large_intestine COSM20449 TRIM33 c.3039_3040insA p.H1014fs*10 Insertion - Frameshift Large_intestine COSM1258835 NCOA1 c.1538C>T p.S513L Substitution - Missense Central_nervous_system COSM4963450 SMYD2 c.415G>A p.D139N Substitution - Missense Pancreas COSM190811 ERCC6 c.2338G>A p.V780I Substitution - Missense Oesophagus COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4442640 KDM4A c.322A>G p.T108A Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4619124 ASXL1 c.581A>C p.H194P Substitution - Missense Large_intestine COSM4725194 SETDB1 c.748G>A p.D250N Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1091571 BAZ1B c.812C>A p.P271H Substitution - Missense Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1436287 NSD1 c.6738G>T p.Q2246H Substitution - Missense Large_intestine COSM1026848 CHD6 c.6945C>T p.V2315V Substitution - coding silent Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM40361 MYST3 c.1575C>T p.S525S Substitution - coding silent Skin COSM3965624 NSD1 c.6280G>A p.E2094K Substitution - Missense Oesophagus COSM4591210 PRDM14 c.187G>C p.A63P Substitution - Missense Upper_aerodigestive_tract COSM5979358 BAZ1B c.1798G>T p.E600* Substitution - Nonsense Upper_aerodigestive_tract COSM1181008 CHD1 c.629delA p.K210fs*39 Deletion - Frameshift Large_intestine COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM3745657 NCOA2 c.2144T>C p.L715P Substitution - Missense Liver COSM51989 BAP1 c.1891_1902del12 p.E631_A634del Deletion - In frame Eye COSM309388 ATRX c.4754C>T p.S1585F Substitution - Missense Lung COSM1468071 KDM6A c.3472A>C p.N1158H Substitution - Missense Prostate COSM85913 IKZF1 c.1-?_160+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4452210 ORC1 c.1673A>G p.N558S Substitution - Missense Skin COSM5484143 SMARCD2 c.142C>T p.R48* Substitution - Nonsense Large_intestine COSM3492893 RERE c.4405C>T p.P1469S Substitution - Missense Skin COSM1072922 NCOA7 c.998G>T p.R333L Substitution - Missense Endometrium COSM4425796 TRDMT1 c.876C>T p.C292C Substitution - coding silent Oesophagus COSM1181746 ACTR5 c.1552C>T p.R518W Substitution - Missense Stomach COSM345946 KMT2C c.3709C>T p.R1237* Substitution - Nonsense Lung COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM1045642 SMARCC1 c.2883G>A p.Q961Q Substitution - coding silent Endometrium COSM76585 SRCAP c.2867C>T p.S956F Substitution - Missense Ovary COSM4921193 CREBBP c.3165G>A p.V1055V Substitution - coding silent Liver COSM87161 TET2 c.4138C>T p.H1380Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM895809 POGZ c.2426C>A p.S809Y Substitution - Missense Endometrium COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4383815 TET2 c.1562G>A p.S521N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM117214 ZMYM4 c.2535G>C p.L845F Substitution - Missense Ovary COSM1494106 JMJD6 c.1029C>T p.S343S Substitution - coding silent Kidney COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM334684 SHPRH c.1796G>T p.G599V Substitution - Missense Lung COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM279796 CDYL2 c.410A>G p.Y137C Substitution - Missense Large_intestine COSM5494610 DOT1L c.2574C>T p.S858S Substitution - coding silent Biliary_tract COSM3812846 CHD4 c.1714C>T p.R572* Substitution - Nonsense Breast COSM328564 NIPBL c.423T>A p.N141K Substitution - Missense Kidney COSM4792836 NSD1 c.3658G>C p.E1220Q Substitution - Missense Liver COSM4911407 ASXL1 c.3107A>G p.N1036S Substitution - Missense Liver COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3349809 DAXX c.968G>A p.R323K Substitution - Missense Large_intestine COSM110793 TET2 c.5209_5210delAC p.T1737fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4496122 EYA2 c.468C>T p.F156F Substitution - coding silent Skin COSM5476049 DOT1L c.1690C>T p.L564L Substitution - coding silent Large_intestine COSM5909866 BRD1 c.1133C>T p.S378F Substitution - Missense Skin COSM1389481 L3MBTL4 c.1853G>A p.G618D Substitution - Missense Pancreas COSM1054447 WHSC1 c.4057C>T p.R1353W Substitution - Missense Endometrium COSM3440909 TAF3 c.1437G>T p.L479L Substitution - coding silent Skin COSM3694077 EP300 c.1511G>T p.R504L Substitution - Missense Large_intestine COSM329559 PRDM1 c.1673T>C p.L558P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1627812 KMT2A c.536C>G p.P179R Substitution - Missense Liver COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1235473 TET2 c.3609C>G p.S1203R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4292006 CHD6 c.1720A>G p.I574V Substitution - Missense Large_intestine COSM1745969 BTAF1 c.3785T>C p.I1262T Substitution - Missense Urinary_tract COSM3409755 BRD8 c.3124G>A p.E1042K Substitution - Missense Central_nervous_system COSM3479273 TDRD5 c.320G>A p.G107E Substitution - Missense Skin COSM1704973 CHD4 c.848C>T p.A283V Substitution - Missense Skin COSM3949278 TDRD6 c.4595A>T p.E1532V Substitution - Missense Lung COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM440564 TRIM28 c.2229C>T p.I743I Substitution - coding silent Breast COSM80096 LBR c.1287C>G p.L429L Substitution - coding silent Ovary COSM930217 MEN1 c.695G>A p.R232H Substitution - Missense Endometrium COSM1034780 TCF20 c.841G>A p.A281T Substitution - Missense Endometrium COSM4913849 SFMBT2 c.494C>A p.S165* Substitution - Nonsense Liver COSM1316715 KMT2C c.14405G>T p.G4802V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM21486 HNF1A c.872delC p.P291fs*51 Deletion - Frameshift Liver COSM137209 NCOA6 c.496C>T p.P166S Substitution - Missense Skin COSM2866901 TRRAP c.11148C>T p.S3716S Substitution - coding silent Skin COSM1051614 SMARCA5 c.2131G>A p.V711I Substitution - Missense Endometrium COSM5009115 KMT2C c.12323G>A p.R4108Q Substitution - Missense Large_intestine COSM5020550 PBRM1 c.2932G>A p.V978I Substitution - Missense Soft_tissue COSM908681 ZMYM4 c.3069T>C p.S1023S Substitution - coding silent Endometrium COSM1614885 MSH6 c.3425C>T p.T1142M Substitution - Missense Liver COSM4503744 EYA1 c.647C>T p.P216L Substitution - Missense Skin COSM4424270 KMT2D c.13705+2delT p.? Unknown Oesophagus COSM339095 ASXL1 c.1346A>G p.Y449C Substitution - Missense Lung COSM1583088 DNMT3A c.1904G>A p.R635Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4151683 AKAP1 c.2281+3A>T p.? Unknown Kidney COSM5479947 SETBP1 c.1997T>A p.I666N Substitution - Missense Large_intestine COSM1046988 BAP1 c.1856G>A p.G619D Substitution - Missense Endometrium COSM1612005 LMNB2 c.132C>G p.V44V Substitution - coding silent Liver COSM3828661 PRDM13 c.417C>T p.C139C Substitution - coding silent Breast COSM5261949 TET2 c.1959delC p.Q654fs*46 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4791545 MUM1 c.1819C>T p.L607L Substitution - coding silent Liver COSM4408901 MEN1 c.1659C>G p.F553L Substitution - Missense Oesophagus COSM132978 ASXL1 c.? p.R965* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM254815 KMT2A c.7556C>T p.T2519I Substitution - Missense Urinary_tract COSM1283596 ATRX c.6049T>C p.S2017P Substitution - Missense Autonomic_ganglia COSM1491617 TRIM33 c.2419-2A>T p.? Unknown Kidney COSM1099539 ASH2L c.1453G>A p.V485I Substitution - Missense Endometrium COSM1298428 KAT5 c.545G>A p.R182Q Substitution - Missense Urinary_tract COSM4031536 PRDM16 c.1984G>A p.V662M Substitution - Missense Stomach COSM3410495 PRDM13 c.1539G>A p.G513G Substitution - coding silent Central_nervous_system COSM4677506 DIDO1 c.4126C>G p.L1376V Substitution - Missense Large_intestine COSM4714001 PHF21A c.206C>T p.P69L Substitution - Missense Large_intestine COSM4096120 KDM3A c.1226C>T p.A409V Substitution - Missense Stomach COSM5010606 SETDB1 c.1454A>G p.K485R Substitution - Missense Kidney COSM3563681 BRWD3 c.3247C>T p.Q1083* Substitution - Nonsense Skin COSM1738145 EZH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM2151469 ERCC6 c.4075A>G p.K1359E Substitution - Missense Central_nervous_system COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Soft_tissue COSM312425 L3MBTL3 c.28delG p.G10fs*24 Deletion - Frameshift Soft_tissue COSM1423570 SETD2 c.2062A>C p.K688Q Substitution - Missense Large_intestine COSM5997729 KMT2C c.6746C>A p.P2249H Substitution - Missense Prostate COSM4827363 CHD4 c.4885G>A p.E1629K Substitution - Missense Cervix COSM4807845 SMYD1 c.1330A>G p.T444A Substitution - Missense Pancreas COSM693058 ATF7IP c.3145A>C p.T1049P Substitution - Missense Lung COSM87002 DNMT3A c.1627G>T p.G543C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3636529 KMT2C c.2417C>T p.S806F Substitution - Missense Skin COSM5361254 KMT2D c.10172delG p.G3391fs*88 Deletion - Frameshift Large_intestine COSM1543413 PRDM9 c.763C>A p.Q255K Substitution - Missense Lung COSM41649 TET2 c.4075C>T p.R1359C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1017604 SP140_ENST00000392045 c.1605G>T p.K535N Substitution - Missense Endometrium COSM4577912 ARID4A c.1538A>C p.K513T Substitution - Missense Bone COSM1204455 DOT1L c.1108G>A p.A370T Substitution - Missense Large_intestine COSM5419258 INOC1 c.33A>T p.G11G Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4850451 UHRF1 c.1789G>A p.D597N Substitution - Missense Cervix COSM146934 ERCC6 c.2751C>T p.G917G Substitution - coding silent Stomach COSM1381118 NCOR1 c.7022G>T p.G2341V Substitution - Missense Large_intestine COSM4702488 KMT2C c.10383T>G p.D3461E Substitution - Missense Large_intestine COSM259607 BAZ2A_ENST00000379441 c.1480A>C p.K494Q Substitution - Missense Large_intestine COSM1061351 KDM3B c.3238T>C p.L1080L Substitution - coding silent Endometrium COSM3075971 BRPF3 c.1682G>A p.R561Q Substitution - Missense Upper_aerodigestive_tract COSM4022079 SETDB1 c.2783G>A p.R928Q Substitution - Missense Stomach COSM3775087 DHX30 c.195C>T p.L65L Substitution - coding silent Urinary_tract COSM4147108 KMT2D c.3486G>T p.Q1162H Substitution - Missense Thyroid COSM87160 TET2 c.4128C>G p.D1376E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM309521 BRD9 c.1318G>T p.E440* Substitution - Nonsense Lung COSM4385672 KMT2D c.8779_8780insC p.S2929fs*16 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM2154697 CHD2 c.5026G>A p.G1676R Substitution - Missense Central_nervous_system COSM42061 TET2 c.1843_1844insG p.L615fs*23 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM961419 RTF1 c.1306A>G p.S436G Substitution - Missense Endometrium COSM2834152 BRD7 c.830A>G p.E277G Substitution - Missense Biliary_tract COSM4880462 PHIP c.3180T>C p.D1060D Substitution - coding silent Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM371300 EP400 c.6436G>T p.E2146* Substitution - Nonsense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM481351 CLOCK c.1539+1G>T p.? Unknown Kidney COSM4750671 HDAC9 c.570A>T p.Q190H Substitution - Missense Stomach COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5936116 BAHD1 c.295C>T p.P99S Substitution - Missense Skin COSM4384078 NSD1 c.3361A>G p.K1121E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5050404 BTAF1 c.4136T>G p.I1379R Substitution - Missense Stomach COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5634215 PRDM14 c.539_540insG p.D180fs*57 Insertion - Frameshift Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5961121 PRDM16 c.1722G>T p.G574G Substitution - coding silent Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM53311 IDH2 c.? p.R140W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM86969 IKZF1 c.? p.S402fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1716176 EZH2 c.? p.Y646C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5628859 PRDM16 c.1977G>T p.P659P Substitution - coding silent Oesophagus COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1600853 GATAD2B c.928C>T p.R310C Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3837120 BAZ2B c.6379C>G p.L2127V Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3461587 KMT2D c.4923C>T p.T1641T Substitution - coding silent Stomach COSM53275 TET2 c.2386G>T p.E796* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1386348 ZBTB4 c.11delC p.P4fs*4 Deletion - Frameshift Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5157074 ZMYM1 c.2685A>G p.A895A Substitution - coding silent Large_intestine COSM1363349 MBD6 c.2337_2338insG p.A783fs*10 Insertion - Frameshift Large_intestine COSM5398612 MECOM c.1621G>A p.E541K Substitution - Missense Skin COSM3710884 ARID2 c.2110C>T p.Q704* Substitution - Nonsense Upper_aerodigestive_tract COSM954580 PRMT5 c.272G>A p.R91H Substitution - Missense Endometrium COSM2965393 KDM6A c.2421T>C p.V807V Substitution - coding silent Upper_aerodigestive_tract COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1406985 ING5 c.155C>T p.T52M Substitution - Missense Large_intestine COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5126913 MBTD1 c.1160A>G p.Q387R Substitution - Missense Large_intestine COSM270197 SMC1A c.1276C>T p.R426W Substitution - Missense Large_intestine COSM942086 MBD6 c.1489G>A p.E497K Substitution - Missense Endometrium COSM4010646 MTF2 c.652C>T p.Q218* Substitution - Nonsense Stomach COSM3440615 KAT6B c.5369C>T p.A1790V Substitution - Missense Skin COSM13942 CHD6 c.4974A>G p.E1658E Substitution - coding silent Lung COSM3608574 PHF15 c.1685C>T p.P562L Substitution - Missense Skin COSM1420492 MECOM c.51A>C p.E17D Substitution - Missense Large_intestine COSM3399790 TDRD10 c.42G>C p.L14L Substitution - coding silent Stomach COSM361471 TAF3 c.1105G>T p.G369W Substitution - Missense Lung COSM1049099 MINA c.849C>T p.D283D Substitution - coding silent Endometrium COSM3856795 BRD9 c.724G>A p.V242M Substitution - Missense Stomach COSM4479138 MYST3 c.229C>T p.P77S Substitution - Missense Skin COSM3757702 BAZ2B c.6071G>A p.S2024N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4456061 CHD2 c.1343_1344AC>TT p.N448I Substitution - Missense Skin COSM961537 MGA c.7583A>G p.D2528G Substitution - Missense Endometrium COSM1486324 KDM3B c.4976G>A p.R1659H Substitution - Missense Large_intestine COSM5051559 PRMT8 c.53A>G p.E18G Substitution - Missense Stomach COSM5741060 AKAP1 c.442C>A p.P148T Substitution - Missense Small_intestine COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM30413 KDM3B c.1177C>T p.P393S Substitution - Missense Lung COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM81366 L3MBTL3 c.651G>A p.S217S Substitution - coding silent Ovary COSM79521 ASXL1 c.243C>T p.F81F Substitution - coding silent Ovary COSM78296 PHF12 c.985A>G p.M329V Substitution - Missense Ovary COSM108079 PYGO2 c.230C>T p.P77L Substitution - Missense Skin COSM111694 TP53BP1 c.992_997delTGGCTT p.L331_A332delLA Deletion - In frame Ovary COSM121204 MLLT6 c.1188G>A p.Q396Q Substitution - coding silent Upper_aerodigestive_tract COSM133672 IDH2 c.516G>C p.R172S Substitution - Missense Bone COSM221091 KMT2D c.13339delG p.E4447fs*80 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM149376 SETD2 c.4376C>T p.P1459L Substitution - Missense Soft_tissue COSM179064 CDYL c.1290C>T p.F430F Substitution - coding silent Skin COSM192773 ARID4A c.640C>T p.R214* Substitution - Nonsense Stomach COSM211725 TET2 c.3860T>C p.F1287S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM253848 SRCAP c.5260C>T p.L1754L Substitution - coding silent Urinary_tract COSM261995 MGA c.3724C>T p.R1242* Substitution - Nonsense Breast COSM283085 KAT6B c.621+7G>A p.? Unknown Large_intestine COSM287292 GLYR1 c.1140_1141insG p.R381fs*15 Insertion - Frameshift Large_intestine COSM286072 TTF2 c.489C>T p.F163F Substitution - coding silent Skin COSM293686 SP140_ENST00000392045 c.2008delA p.K672fs*4 Deletion - Frameshift Large_intestine COSM345531 SETD2 c.584C>T p.S195F Substitution - Missense Lung COSM422089 CHD7 c.7369A>T p.N2457Y Substitution - Missense Urinary_tract COSM450800 ARID1B c.5294A>C p.K1765T Substitution - Missense Breast COSM985379 KDM6B c.1245G>A p.P415P Substitution - coding silent Endometrium COSM976129 RAI1 c.4032C>T p.F1344F Substitution - coding silent Skin COSM1646581 ZMYM2 c.134G>C p.R45T Substitution - Missense Lung COSM1026314 PHF20 c.2601G>A p.A867A Substitution - coding silent Endometrium COSM756688 RBBP7 c.232C>T p.L78L Substitution - coding silent Lung COSM743365 PHF3 c.866C>T p.S289L Substitution - Missense Lung COSM931213 SUV420H1 c.1410C>T p.L470L Substitution - coding silent Endometrium COSM932717 EED c.1322G>A p.R441Q Substitution - Missense Endometrium COSM990754 SMARCA4 c.3356G>A p.R1119H Substitution - Missense Bone COSM961206 BAHD1 c.886T>C p.S296P Substitution - Missense Endometrium COSM970049 SETD1A c.2969G>A p.R990Q Substitution - Missense Breast COSM1124812 ZMYM3 c.1849C>T p.R617C Substitution - Missense Endometrium COSM1107425 PSIP1 c.230T>G p.F77C Substitution - Missense Endometrium COSM1109457 KIAA2026_ENST00000399933 c.3219G>A p.W1073* Substitution - Nonsense Endometrium COSM1262057 PHF21A c.806A>C p.K269T Substitution - Missense Stomach COSM1258621 MYST3 c.871G>A p.E291K Substitution - Missense Stomach COSM1169488 BAP1 c.1787_1806del20 p.S597fs*39 Deletion - Frameshift Kidney COSM1315264 FMR1 c.876A>G p.L292L Substitution - coding silent Urinary_tract COSM1310548 PHF15 c.1767C>T p.D589D Substitution - coding silent Urinary_tract COSM1296005 KDM1A c.926C>G p.S309* Substitution - Nonsense Urinary_tract COSM1290055 TDRD5 c.2117G>A p.R706Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1291746 PBRM1 c.1337A>G p.D446G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1268744 TRRAP c.11356G>A p.V3786I Substitution - Missense Oesophagus COSM1446051 PHIP c.3783-2A>G p.? Unknown Large_intestine COSM1363776 CHD4 c.417G>T p.E139D Substitution - Missense Large_intestine COSM1610277 EZH1 c.389G>A p.C130Y Substitution - Missense Liver COSM1617682 SETD2 c.2801C>G p.S934* Substitution - Nonsense Liver COSM1680761 BRD4 c.359G>A p.W120* Substitution - Nonsense Large_intestine COSM1687593 KDM4A c.2513A>G p.K838R Substitution - Missense Skin COSM1704239 DPF2 c.1172C>T p.S391F Substitution - Missense Skin COSM1704057 GLYATL1 c.786G>A p.M262I Substitution - Missense Skin COSM1753302 BAP1 c.505C>T p.H169Y Substitution - Missense Urinary_tract COSM1732072 SETD2 c.3904G>T p.E1302* Substitution - Nonsense Kidney COSM2011365 MORF4L1 c.233A>G p.E78G Substitution - Missense Large_intestine COSM2011375 MORF4L1 c.499G>A p.E167K Substitution - Missense Large_intestine COSM2156613 NCOA3 c.1776C>T p.H592H Substitution - coding silent Central_nervous_system COSM2158499 JMJD1C c.2557C>T p.R853C Substitution - Missense Stomach COSM2095564 TDRD5 c.2415G>A p.T805T Substitution - coding silent Stomach COSM2854153 PBRM1 c.1600C>T p.R534* Substitution - Nonsense Pancreas COSM3069621 SMARCC1 c.2444delA p.N815fs*10 Deletion - Frameshift Large_intestine COSM3142385 PRDM13 c.595T>C p.F199L Substitution - Missense Large_intestine COSM3296311 EPC2 c.2133A>G p.A711A Substitution - coding silent Upper_aerodigestive_tract COSM3373846 PRDM9 c.1565C>T p.A522V Substitution - Missense Thyroid COSM3412784 CHRAC1 c.327G>A p.E109E Substitution - coding silent Central_nervous_system COSM3415345 BTAF1 c.627G>T p.K209N Substitution - Missense Large_intestine COSM3458532 ATF7IP c.1433C>T p.P478L Substitution - Missense Skin COSM3620802 EYA4 c.948C>T p.L316L Substitution - coding silent Skin COSM3633855 TIF1 c.1652C>T p.S551F Substitution - Missense Skin COSM3525633 INO80C c.42C>T p.P14P Substitution - coding silent Skin COSM3673637 SP140_ENST00000392045 c.2156C>A p.P719Q Substitution - Missense Prostate COSM3707843 ADNP c.2038A>G p.I680V Substitution - Missense Liver COSM3733308 KMT2D c.4613G>A p.G1538E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3777606 BRPF3 c.117G>A p.R39R Substitution - coding silent Oesophagus COSM3774046 ZBTB38 c.898C>G p.P300A Substitution - Missense Pancreas COSM3807732 KAT6B c.2106T>G p.L702L Substitution - coding silent Breast COSM3844243 SCML2 c.685T>G p.W229G Substitution - Missense Breast COSM3848336 TAF1L c.1996G>A p.A666T Substitution - Missense Breast COSM3888412 SRCAP c.5812C>T p.P1938S Substitution - Missense Skin COSM4013439 ZMYND11 c.18T>C p.G6G Substitution - coding silent Stomach COSM4018329 KMT2A c.8073A>G p.S2691S Substitution - coding silent Stomach COSM3991702 CHD6 c.3467G>C p.W1156S Substitution - Missense Kidney COSM4068903 BPTF c.863T>C p.V288A Substitution - Missense Stomach COSM4186420 PBRM1 c.1998T>G p.Y666* Substitution - Nonsense Kidney COSM4336382 MBD2 c.345_346insGGC p.G115_S116insG Insertion - In frame Thyroid COSM4385251 EP300 c.3256A>G p.I1086V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4406161 NSD1 c.823A>C p.N275H Substitution - Missense Skin COSM4496973 SMARCA4 c.4775C>T p.S1592F Substitution - Missense Skin COSM4505384 SRCAP c.6913C>T p.L2305F Substitution - Missense Skin COSM4425009 INOC1 c.154G>C p.E52Q Substitution - Missense Oesophagus COSM4431838 MTF2 c.1195delA p.K400fs*3 Deletion - Frameshift Biliary_tract COSM4495074 MLL5 c.4459C>G p.Q1487E Substitution - Missense Skin COSM4555560 SUV420H2 c.659G>C p.G220A Substitution - Missense Skin COSM4490226 PHF3 c.3600C>T p.T1200T Substitution - coding silent Skin COSM4498470 CHD7 c.520C>T p.P174S Substitution - Missense Skin COSM4702908 MORF4L1 c.211G>A p.V71I Substitution - Missense Large_intestine COSM4618036 EYA2 c.698C>T p.A233V Substitution - Missense Large_intestine COSM4774900 IDH1 c.1110C>T p.G370G Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4748332 PHRF1 c.4433C>T p.P1478L Substitution - Missense Stomach COSM4752101 MYST1 c.749A>G p.E250G Substitution - Missense Stomach COSM4757244 HDAC8 c.341C>T p.A114V Substitution - Missense Stomach COSM4883561 DIDO1 c.774G>T p.K258N Substitution - Missense Upper_aerodigestive_tract COSM4938712 POLE3 c.145A>G p.T49A Substitution - Missense Liver COSM4908137 KIAA2026_ENST00000399933 c.341A>G p.E114G Substitution - Missense Kidney COSM4854912 SMARCA2 c.2554G>A p.E852K Substitution - Missense Cervix COSM4845806 ZCWPW1 c.1369G>A p.E457K Substitution - Missense Cervix COSM4951278 ARID1A c.320_329del10 p.A107fs*4 Deletion - Frameshift Liver COSM5000494 ERCC6 c.3494C>T p.T1165I Substitution - Missense Pancreas COSM5359033 ELP3 c.860C>A p.P287H Substitution - Missense Large_intestine COSM5418748 SETD1B c.2121+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5498467 ATRX c.1643G>T p.G548V Substitution - Missense Biliary_tract COSM5520629 ADNP c.63_64insA p.I22fs*3 Insertion - Frameshift Biliary_tract COSM5472240 EHMT2 c.2250C>T p.D750D Substitution - coding silent Large_intestine COSM5425833 ZBTB38 c.2475G>A p.P825P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5623549 CHD7 c.4276G>A p.D1426N Substitution - Missense Oesophagus COSM5741430 SMARCA4 c.29G>A p.G10E Substitution - Missense Small_intestine COSM5718892 HDAC4 c.704C>T p.A235V Substitution - Missense Skin COSM5721460 TAF3 c.2601C>T p.I867I Substitution - coding silent Skin COSM5721858 PRDM10 c.170C>T p.S57F Substitution - Missense Skin COSM5666923 BRWD3 c.531G>T p.L177L Substitution - coding silent Soft_tissue COSM5571134 HDAC2 c.863T>C p.V288A Substitution - Missense Prostate COSM5783077 DNMT3L c.220G>T p.A74S Substitution - Missense Breast COSM5878924 TET2 c.480_481insA p.D162fs*9 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5935841 BAZ2A c.532C>T p.L178F Substitution - Missense Skin COSM5904855 TDRD6 c.3196G>A p.D1066N Substitution - Missense Skin COSM5947750 ACTR5 c.1202C>T p.P401L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5966770 TRRAP c.5889G>T p.L1963F Substitution - Missense Adrenal_gland COSM5999043 JMJD1C c.419A>G p.E140G Substitution - Missense Prostate COSM5992662 BRDT c.2092G>C p.E698Q Substitution - Missense Prostate COSM6003024 PCGF2 c.826C>A p.L276M Substitution - Missense Prostate COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM1716178 EZH2 c.? p.K634E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5967244 TET2 c.? p.Q652* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM51384 IDH1 c.? p.R132L Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM42007 TET2 c.2306_2306delA p.Q769fs*44 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5006565 KDM5C c.?_?del? p.?fs*? Deletion - Frameshift Kidney COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1685350 EZH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52004 TET2 c.? p.E1437fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM144586 DNMT3A c.? p.Y660C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM1685366 ASXL1 c.? p.G643fs*13 Frameshift Haematopoietic_and_lymphoid_tissue COSM5988493 HNF1A c.1392C>T p.F464F Substitution - coding silent Liver COSM5551370 HCFC2 c.236G>C p.C79S Substitution - Missense Prostate COSM5368754 CHD4 c.3479C>A p.A1160D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5758775 BAZ2A c.876C>T p.V292V Substitution - coding silent Bone COSM3515955 SUZ12 c.1875-1G>T p.? Unknown Skin COSM4767397 ATRX c.4535G>A p.R1512H Substitution - Missense Adrenal_gland COSM5928776 ARID1B c.2158G>A p.G720S Substitution - Missense Skin COSM2866893 TRRAP c.10958C>T p.A3653V Substitution - Missense Stomach COSM928937 GLYATL1 c.917G>T p.R306I Substitution - Missense Endometrium COSM1307308 NCOA6 c.273G>A p.W91* Substitution - Nonsense Urinary_tract COSM430545 KDM2B c.1335C>T p.Y445Y Substitution - coding silent Large_intestine COSM729155 PHC3 c.176G>A p.S59N Substitution - Missense Lung COSM3733522 NCOR1 c.59A>C p.Y20S Substitution - Missense Upper_aerodigestive_tract COSM249560 KMT2C c.5053G>T p.A1685S Substitution - Missense Kidney COSM1735762 TET2 c.2737C>T p.Q913* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5990634 ARID1A c.2509G>A p.A837T Substitution - Missense Liver COSM1026872 CHD6 c.3219C>T p.S1073S Substitution - coding silent Large_intestine COSM4765802 SMARCC2 c.3129_3130insC p.G1044fs*33 Insertion - Frameshift Stomach COSM143671 EHMT1 c.2188_2189GG>AA p.G730K Substitution - Missense Skin COSM4990310 ZMYM2 c.946C>T p.Q316* Substitution - Nonsense Skin COSM3359766 KMT2D c.3304C>A p.L1102I Substitution - Missense Kidney COSM5566149 MSH6 c.1403G>A p.R468H Substitution - Missense Prostate COSM4384358 KMT2C c.1764G>T p.Q588H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384320 KMT2C c.9530G>A p.R3177H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5938389 CHD3 c.1457C>T p.P486L Substitution - Missense Skin COSM1264643 RTF1 c.1395G>A p.Q465Q Substitution - coding silent Oesophagus COSM6011568 TET2 c.5050G>A p.G1684R Substitution - Missense Skin COSM3939995 KDM6A c.301C>G p.H101D Substitution - Missense Oesophagus COSM5151215 SMARCB1 c.804C>T p.I268I Substitution - coding silent Skin COSM259611 BAZ2B c.2593C>T p.R865W Substitution - Missense Large_intestine COSM452817 HDAC9 c.2322+1G>T p.? Unknown Breast COSM1444904 TDRD6 c.4204G>T p.G1402C Substitution - Missense Large_intestine COSM4030432 SMYD3 c.755C>T p.A252V Substitution - Missense Prostate COSM96366 BAP1 c.1937_1955del19 p.Y646fs*3 Deletion - Frameshift Pleura COSM3733523 NCOR1 c.14G>T p.G5V Substitution - Missense Pancreas COSM3829514 ARID1B c.46G>A p.E16K Substitution - Missense Breast COSM51457 ARID1A c.1070_1070delG p.S357fs*6 Deletion - Frameshift Ovary COSM87127 TET2 c.3657C>G p.H1219Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM694441 BAZ2A c.2207-1G>A p.? Unknown Lung COSM1073 SMARCB1 c.851C>T p.S284L Substitution - Missense Soft_tissue COSM3501042 RTF1 c.221T>G p.M74R Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM5715614 NIPBL c.1978G>T p.E660* Substitution - Nonsense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4880103 EPC2 c.1082A>G p.N361S Substitution - Missense Prostate COSM3475151 LMNA c.205G>A p.V69M Substitution - Missense Skin COSM1635198 KMT2C c.2185A>G p.N729D Substitution - Missense Thyroid COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4092773 HDAC4 c.3208G>A p.E1070K Substitution - Missense Stomach COSM4471601 PHF16 c.172C>G p.H58D Substitution - Missense Skin COSM4771683 TRRAP c.6100G>A p.V2034M Substitution - Missense Stomach COSM1738321 RAI1 c.825C>G p.S275R Substitution - Missense Ovary COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4159839 PRDM9 c.2042C>G p.T681S Substitution - Missense Upper_aerodigestive_tract COSM4546876 MSL3 c.409G>A p.E137K Substitution - Missense Skin COSM381175 MLL5 c.3058G>A p.V1020M Substitution - Missense Lung COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM3441501 BTAF1 c.1895C>T p.A632V Substitution - Missense Skin COSM3427482 KAT2B c.2087G>A p.R696Q Substitution - Missense Large_intestine COSM1618136 SETD5_ENST00000402198 c.3094G>A p.G1032S Substitution - Missense Liver COSM4219256 PRDM2 c.2110G>C p.A704P Substitution - Missense Oesophagus COSM249607 SMARCA4 c.3424T>G p.F1142V Substitution - Missense Kidney COSM317283 EP300 c.3857A>G p.N1286S Substitution - Missense Lung COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM20551 TRRAP c.5117G>A p.R1706H Substitution - Missense Stomach COSM5894906 GTF3C4 c.1135C>T p.L379F Substitution - Missense Skin COSM255014 KDM6A c.2995G>T p.E999* Substitution - Nonsense Urinary_tract COSM4552829 SETD1B c.2385G>A p.K795K Substitution - coding silent Skin COSM370786 BPTF c.1822G>T p.D608Y Substitution - Missense Lung COSM3833585 TRRAP c.7389G>A p.Q2463Q Substitution - coding silent Breast COSM5411961 SMARCA1 c.886G>A p.E296K Substitution - Missense Skin COSM5744074 PRDM15 c.1948G>A p.V650M Substitution - Missense Small_intestine COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4392697 SMARCA5 c.2969A>G p.K990R Substitution - Missense Prostate COSM1078025 DAXX c.168G>T p.K56N Substitution - Missense Endometrium COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Prostate COSM1483713 NCOA3 c.3741_3749delGCAGCAGCA p.Q1274_Q1276delQQQ Deletion - In frame Soft_tissue COSM166346 DNMT3A c.? p.?fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM3729433 ATAD2 c.1721C>T p.T574M Substitution - Missense Large_intestine COSM3782159 ATAD2B_ENST00000238789 c.628C>T p.R210* Substitution - Nonsense Oesophagus COSM3620161 NCOA7 c.1752A>T p.K584N Substitution - Missense Skin COSM1604859 PHRF1 c.4414-8C>T p.? Unknown Liver COSM3472826 PRDM2 c.2865C>T p.S955S Substitution - coding silent Skin COSM5443039 KAT2A c.929G>A p.R310H Substitution - Missense Oesophagus COSM5650230 UHRF1 c.1216T>G p.S406A Substitution - Missense Oesophagus COSM110268 L3MBTL4 c.809C>T p.S270F Substitution - Missense Skin COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM100059 TET2 c.2355_2355delT p.H786fs*27 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5751347 MSH6 c.196C>AC p.P66fs*24 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM5464438 GATAD2A c.62A>C p.K21T Substitution - Missense Large_intestine COSM1644511 CREBBP c.4415G>C p.W1472S Substitution - Missense Salivary_gland COSM5944118 ASXL1 c.2687T>A p.L896* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5682788 EZH1 c.73C>T p.R25* Substitution - Nonsense Soft_tissue COSM929376 PHRF1 c.3390G>A p.R1130R Substitution - coding silent Endometrium COSM3774230 BAG6 c.1855T>C p.S619P Substitution - Missense Soft_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3488900 ZMYM4 c.3927C>T p.Y1309Y Substitution - coding silent Skin COSM1214638 MBD3 c.193C>T p.R65C Substitution - Missense Large_intestine COSM1615193 SMYD1 c.335G>A p.W112* Substitution - Nonsense Liver COSM1751563 ZGPAT c.520C>T p.H174Y Substitution - Missense Urinary_tract COSM4098458 CHD6 c.2992G>T p.G998W Substitution - Missense Stomach COSM4723969 SCMH1 c.204C>T p.N68N Substitution - coding silent Large_intestine COSM4277292 DNMT1 c.996-8T>C p.? Unknown Skin COSM314702 RBBP5 c.1077G>T p.K359N Substitution - Missense Lung COSM684145 ERCC6 c.2091A>T p.L697F Substitution - Missense Lung COSM987394 SMCHD1 c.624G>T p.E208D Substitution - Missense Endometrium COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Biliary_tract COSM4131185 SMARCA4 c.1524T>C p.H508H Substitution - coding silent Thyroid COSM5460707 ARID1B c.5134A>G p.K1712E Substitution - Missense Large_intestine COSM5916342 CHD8 c.4922-4C>T p.? Unknown Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4511538 KMT2D c.7911C>T p.Y2637Y Substitution - coding silent Skin COSM1041415 TBL1XR1 c.763G>T p.D255Y Substitution - Missense Endometrium COSM3701108 CTCF c.649G>T p.E217* Substitution - Nonsense Liver COSM126804 KMT2D c.2653G>T p.E885* Substitution - Nonsense Upper_aerodigestive_tract COSM96464 CREBBP c.4071delT p.F1358fs*18 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85821 ATRX c.6338_6341delTTAT p.F2113fs*9 Deletion - Frameshift Pancreas COSM5753353 PBRM1 c.? p.S987* Substitution - Nonsense Kidney COSM4917701 ATAD2B_ENST00000238789 c.4011T>C p.C1337C Substitution - coding silent Liver COSM1041692 FXR1 c.569G>A p.R190Q Substitution - Missense Endometrium COSM3906530 SMARCA2 c.2451G>A p.Q817Q Substitution - coding silent Stomach COSM2067837 ARID2 c.2809C>T p.Q937* Substitution - Nonsense Skin COSM4384080 NSD1 c.3698G>A p.R1233Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM216051 KMT2C c.4351G>C p.D1451H Substitution - Missense Central_nervous_system COSM4731920 TAF1 c.534G>T p.E178D Substitution - Missense Large_intestine COSM4949725 PBRM1 c.3327_3348del22 p.D1109fs*43 Deletion - Frameshift Liver COSM908633 ZMYM6 c.93+2T>C p.? Unknown Endometrium COSM4885877 CHD2 c.678G>T p.A226A Substitution - coding silent Upper_aerodigestive_tract COSM5514979 MECOM c.267-10C>A p.? Unknown Biliary_tract COSM3547381 NCOA3 c.3269C>T p.P1090L Substitution - Missense Skin COSM5487086 CHD6 c.4220G>A p.R1407H Substitution - Missense Large_intestine COSM23398 MEN1 c.249_252delGTCT p.I85fs*33 Deletion - Frameshift Lung COSM4577910 ARID4A c.1484_1486delATA p.N496delN Deletion - In frame Bone COSM464366 ARID1A c.6824T>C p.I2275T Substitution - Missense Kidney COSM1169686 TET2 c.? p.Q810* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4066512 KAT2A c.2423A>G p.N808S Substitution - Missense Stomach COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1017609 SP140_ENST00000392045 c.1999C>T p.R667C Substitution - Missense Endometrium COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1221883 PRDM16 c.1610G>T p.S537I Substitution - Missense Large_intestine COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM254551 ARID1A c.1897C>T p.Q633* Substitution - Nonsense Urinary_tract COSM52984 DNMT3A c.? p.R882S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5739043 TDRD1 c.2313_2314insT p.A774fs*3 Insertion - Frameshift Small_intestine COSM1755469 ZCWPW1 c.1724C>A p.S575* Substitution - Nonsense Urinary_tract COSM4521923 PRDM11 c.1239G>A p.E413E Substitution - coding silent Skin COSM4452679 KDM1A c.2050A>T p.N684Y Substitution - Missense Skin COSM3533595 SIRT2 c.453C>T p.F151F Substitution - coding silent Skin COSM52984 DNMT3A c.? p.R882S Substitution - Missense Pleura COSM4436744 KMT2D c.3500C>A p.S1167* Substitution - Nonsense Oesophagus COSM3440092 SFMBT2 c.1845C>T p.I615I Substitution - coding silent Skin COSM1049115 BRPF1 c.163C>T p.Q55* Substitution - Nonsense Endometrium COSM3578897 SP140_ENST00000392045 c.932G>A p.G311E Substitution - Missense Skin COSM5945526 ATRX c.7219C>T p.R2407* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM402785 TDRD6 c.1134G>T p.L378F Substitution - Missense Lung COSM3547370 NCOA3 c.592C>T p.R198C Substitution - Missense Skin COSM1355082 PHRF1 c.3405G>A p.K1135K Substitution - coding silent Large_intestine COSM4425893 BRD9 c.960G>C p.E320D Substitution - Missense Oesophagus COSM675115 TTF2 c.2309A>G p.Q770R Substitution - Missense Lung COSM3660326 MECOM c.360C>T p.R120R Substitution - coding silent Liver COSM23402 MEN1 c.39delG p.R14fs*105 Deletion - Frameshift Parathyroid COSM3551334 AIRE c.613G>A p.A205T Substitution - Missense Skin COSM1672467 TDRD6 c.1664C>T p.A555V Substitution - Missense Large_intestine COSM1235314 CHD2 c.1_63-8830del14254 p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1179669 KMT2C c.943G>A p.G315S Substitution - Missense Prostate COSM298043 ACTB c.1114C>T p.R372C Substitution - Missense Large_intestine COSM144544 TET2 c.4022C>A p.A1341E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1634599 ARID1B c.1936C>T p.Q646* Substitution - Nonsense Liver COSM5559608 KDM6B c.1375C>A p.L459I Substitution - Missense Prostate COSM5996876 PHIP c.3084T>C p.P1028P Substitution - coding silent Prostate COSM4479544 BAHD1 c.2336C>T p.P779L Substitution - Missense Skin COSM1107820 SMARCA2 c.3971A>G p.Q1324R Substitution - Missense Endometrium COSM3707844 ADNP c.513T>G p.T171T Substitution - coding silent Liver COSM457596 HDAC6 c.1699G>T p.D567Y Substitution - Missense Breast COSM5430362 DOT1L c.3167C>G p.A1056G Substitution - Missense Oesophagus COSM310075 CHD1 c.3066C>T p.A1022A Substitution - coding silent Lung COSM1680027 BPTF c.3000G>T p.K1000N Substitution - Missense Ovary COSM125337 PHF21A c.1791C>G p.I597M Substitution - Missense Upper_aerodigestive_tract COSM41742 TET2 c.5152G>T p.V1718L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5816271 DMAP1 c.384G>T p.R128S Substitution - Missense Liver COSM5038753 CTCF c.863delA p.H288fs*22 Deletion - Frameshift Liver COSM1099909 MYST3 c.5049G>A p.P1683P Substitution - coding silent Endometrium COSM4387430 BAP1 c.335T>G p.L112R Substitution - Missense Eye COSM415822 KMT2D c.2233G>T p.E745* Substitution - Nonsense Urinary_tract COSM3453558 RSF1 c.1404G>A p.K468K Substitution - coding silent Skin COSM940300 SMARCD1 c.1396G>T p.E466* Substitution - Nonsense Endometrium COSM1173586 KDM6A c.1178G>A p.R393Q Substitution - Missense Oesophagus COSM52947 IDH2 c.? p.R172? Substitution - Missense Central_nervous_system COSM4679211 DOT1L c.4297G>A p.V1433M Substitution - Missense Large_intestine COSM3359086 PRDM10 c.3294A>G p.Q1098Q Substitution - coding silent Kidney COSM5817274 TRIM28 c.1201A>G p.S401G Substitution - Missense Liver COSM231563 DNMT3A c.2311C>T p.R771* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5712482 SMARCA2 c.4257A>C p.S1419S Substitution - coding silent Central_nervous_system COSM5708573 TBL1XR1 c.1251T>A p.S417R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1715181 ATRX c.1885C>T p.L629F Substitution - Missense Large_intestine COSM1447875 SND1 c.2382G>A p.T794T Substitution - coding silent Prostate COSM320163 ERCC6 c.4121C>T p.A1374V Substitution - Missense Lung COSM430136 ACTR6 c.570C>G p.Y190* Substitution - Nonsense Breast COSM375448 PRDM9 c.1093C>A p.L365M Substitution - Missense Lung COSM298862 UHRF2 c.731T>C p.V244A Substitution - Missense Large_intestine COSM20489 TAF1 c.1358G>A p.G453D Substitution - Missense Large_intestine COSM1621134 ARID1B c.3277G>A p.G1093R Substitution - Missense Liver COSM75424 KMT2A c.6988A>G p.K2330E Substitution - Missense Ovary COSM4034554 PHRF1 c.3426C>T p.H1142H Substitution - coding silent Stomach COSM4745763 SETD2 c.2562_2563ins17 p.L855fs*21 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5708571 TBL1XR1 c.1259T>G p.F420C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5986153 BRWD1 c.2349G>C p.K783N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4000327 CBX4 c.871T>C p.S291P Substitution - Missense Upper_aerodigestive_tract COSM87002 DNMT3A c.1627G>T p.G543C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4450184 PHF3 c.4796delA p.D1600fs*21 Deletion - Frameshift Skin COSM5499312 AKAP1 c.2454G>A p.P818P Substitution - coding silent Biliary_tract COSM4000327 CBX4 c.871T>C p.S291P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1012901 ASXL1 c.2835_2835delA p.A946fs*5 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4601947 KMT2C c.4840T>A p.S1614T Substitution - Missense Upper_aerodigestive_tract COSM687754 PRMT3 c.1477G>C p.V493L Substitution - Missense Lung COSM4596893 RAI1 c.3388G>T p.E1130* Substitution - Nonsense Upper_aerodigestive_tract COSM87002 DNMT3A c.1627G>T p.G543C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3724477 ARID1A c.4403_4403delC p.P1468fs*13 Deletion - Frameshift Large_intestine COSM908670 ZMYM4 c.1054C>T p.Q352* Substitution - Nonsense Endometrium COSM307105 PRMT8 c.597G>A p.T199T Substitution - coding silent Central_nervous_system COSM684147 ERCC6 c.3405A>G p.T1135T Substitution - coding silent Lung COSM13394 MSH6 c.3261_3262insC p.F1088fs*5 Insertion - Frameshift Large_intestine COSM753784 SMARCA2 c.3657C>T p.A1219A Substitution - coding silent Lung COSM5102455 EPC2 c.2352-7A>G p.? Unknown Large_intestine COSM1307340 PHF20 c.2617G>A p.E873K Substitution - Missense Urinary_tract COSM1117707 HCFC1 c.5069G>A p.G1690D Substitution - Missense Large_intestine COSM231568 DNMT3A c.2578T>C p.W860R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM450157 BRD9 c.1155C>T p.D385D Substitution - coding silent Breast COSM43418 TET2 c.5036_5036delA p.Y1679fs*16 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM21471 HNF1A c.617G>T p.W206L Substitution - Missense Liver COSM4717498 PRDM2 c.1910A>G p.K637R Substitution - Missense Large_intestine COSM708770 CHD3 c.284A>G p.Y95C Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5568715 ZMYM1 c.1959T>C p.S653S Substitution - coding silent Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5039783 ING3 c.787G>A p.G263R Substitution - Missense Skin COSM1250491 DNMT1 c.3247T>A p.F1083I Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3365255 PHF7 c.486A>G p.L162L Substitution - coding silent Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5812737 SETD5_ENST00000402198 c.809A>T p.Q270L Substitution - Missense Liver COSM5899948 PBRM1 c.4487G>A p.R1496Q Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5400089 SETD5_ENST00000402198 c.538C>T p.R180C Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3061741 TCF20 c.5054C>T p.S1685L Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM109957 ARID1A c.6316C>A p.L2106M Substitution - Missense Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5728840 RSF1 c.1580C>T p.A527V Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM731421 SETD5_ENST00000402198 c.2303G>T p.R768L Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5899014 KAT6B c.5647A>T p.N1883Y Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3788018 MTA2 c.405C>T p.P135P Substitution - coding silent Pancreas COSM5800325 GATAD2A c.491C>G p.P164R Substitution - Missense Breast COSM1049766 TET2 c.4965G>A p.P1655P Substitution - coding silent Endometrium COSM5038159 PRDM5 c.94-8C>T p.? Unknown Skin COSM5024982 KMT2C c.10344delG p.S3449fs*18 Deletion - Frameshift Breast COSM99740 DNMT3A c.2645G>C p.R882P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM166748 PRDM9 c.2295A>T p.R765S Substitution - Missense Upper_aerodigestive_tract COSM4072468 CXXC1 c.1939A>G p.T647A Substitution - Missense Prostate COSM724366 EYA2 c.228G>A p.A76A Substitution - coding silent Lung COSM3304380 KMT2C c.2725A>G p.R909G Substitution - Missense Thyroid COSM5018754 LBR c.893-2delA p.? Unknown Soft_tissue COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM99740 DNMT3A c.2645G>C p.R882P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM282338 L3MBTL3 c.67G>T p.D23Y Substitution - Missense Large_intestine COSM1017579 SP110 c.2122G>A p.G708S Substitution - Missense Endometrium COSM2813388 CARM1 c.1813C>T p.H605Y Substitution - Missense Prostate COSM3720575 PHF14 c.2254C>A p.L752I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3413383 PRDM12 c.706G>A p.A236T Substitution - Missense Central_nervous_system COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Endometrium COSM3909077 PHF2 c.1875G>A p.S625S Substitution - coding silent Stomach COSM216207 KDM6A c.3768C>G p.Y1256* Substitution - Nonsense Central_nervous_system COSM165602 WHSC1L1 c.1192C>A p.Q398K Substitution - Missense Breast COSM4714171 PHRF1 c.647_648insA p.L217fs*24 Insertion - Frameshift Large_intestine COSM1263252 PSIP1 c.796A>T p.K266* Substitution - Nonsense Oesophagus COSM4875131 CHD4 c.4337G>A p.R1446K Substitution - Missense Endometrium COSM3528095 DNMT1 c.3973C>T p.P1325S Substitution - Missense Skin COSM4064170 NCOR1 c.1381C>A p.L461I Substitution - Missense Stomach COSM21281 BRD3 c.651C>G p.A217A Substitution - coding silent Stomach COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM20550 TRRAP c.477A>G p.K159K Substitution - coding silent Stomach COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM28418 PHF14 c.547delT p.W183fs*18 Deletion - Frameshift Kidney COSM53267 TET2 c.2149_2150insA p.H717fs*6 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM51424 ARID1A c.1029_1043del15 p.A344_A348del Deletion - In frame Stomach COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM100067 TET2 c.783_783delC p.C262fs*31 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM97170 PRDM1 c.142C>A p.P48T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM145539 KDM2B c.1313A>G p.H438R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM140135 EZH1 c.451A>T p.I151F Substitution - Missense Skin COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Central_nervous_system COSM166837 TET2 c.5602C>T p.H1868Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM243047 ARID1B c.5265C>A p.D1755E Substitution - Missense Prostate COSM41850 TET2 c.1630C>T p.R544* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM260531 DNMT1 c.1453G>A p.E485K Substitution - Missense Endometrium COSM275434 HDAC9 c.1988G>A p.R663Q Substitution - Missense Large_intestine COSM298253 BAZ1B c.1236G>C p.L412L Substitution - coding silent Large_intestine COSM293686 SP140_ENST00000392045 c.2008delA p.K672fs*4 Deletion - Frameshift Large_intestine COSM323341 SIRT1 c.770T>G p.I257R Substitution - Missense Lung COSM329560 PRDM13 c.211A>C p.I71L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM317919 PRMT5 c.993C>A p.P331P Substitution - coding silent Soft_tissue COSM346578 ACTA1 c.823G>T p.G275C Substitution - Missense Lung COSM364389 CREBBP c.1844C>T p.T615I Substitution - Missense Lung COSM356417 ZMYM4 c.3855G>T p.L1285F Substitution - Missense Lung COSM387332 PBRM1 c.1858G>C p.E620Q Substitution - Missense Lung COSM400267 PRDM9 c.2315G>T p.G772V Substitution - Missense Lung COSM395848 ZMYM6 c.3176C>G p.S1059C Substitution - Missense Lung COSM418801 HDAC4 c.936G>A p.A312A Substitution - coding silent Urinary_tract COSM445045 L3MBTL2 c.1670C>T p.T557M Substitution - Missense Breast COSM454393 ELP3 c.959delC p.L321fs*2 Deletion - Frameshift Breast COSM451358 BRPF3 c.520G>C p.D174H Substitution - Missense Breast COSM474484 LMNB2 c.276A>T p.R92R Substitution - coding silent Kidney COSM979604 EZH1 c.973G>T p.E325* Substitution - Nonsense Endometrium COSM52842 PBRM1 c.1318C>T p.Q440* Substitution - Nonsense Kidney COSM1027517 ZMYND8 c.2692G>A p.A898T Substitution - Missense Endometrium COSM708661 BAHCC1 c.7625C>T p.A2542V Substitution - Missense Large_intestine COSM723654 CHD6 c.3381G>A p.E1127E Substitution - coding silent Lung COSM726942 TCF20 c.2117G>A p.R706H Substitution - Missense Endometrium COSM908327 RBBP4 c.1175C>T p.S392F Substitution - Missense Endometrium COSM931211 SUV420H1 c.1615C>T p.R539W Substitution - Missense Endometrium COSM923568 KMT2A c.738G>T p.K246N Substitution - Missense Endometrium COSM895007 PRDM2 c.1497A>G p.R499R Substitution - coding silent Endometrium COSM1602155 ARID1A c.5975C>T p.S1992L Substitution - Missense Endometrium COSM1041043 PHC3 c.512C>T p.A171V Substitution - Missense Endometrium COSM961973 TP53BP1 c.4733G>T p.R1578I Substitution - Missense Endometrium COSM1056174 CLOCK c.66T>C p.F22F Substitution - coding silent Endometrium COSM1122176 HDAC6 c.41G>A p.R14Q Substitution - Missense Endometrium COSM1122179 HDAC6 c.477G>T p.M159I Substitution - Missense Endometrium COSM1117715 HCFC1 c.4554G>A p.T1518T Substitution - coding silent Endometrium COSM1136353 BAZ2B c.5488G>T p.E1830* Substitution - Nonsense Kidney COSM1310573 KDM3B c.2181G>A p.S727S Substitution - coding silent Urinary_tract COSM1311411 CHD1 c.3457C>T p.R1153* Substitution - Nonsense Urinary_tract COSM1293675 KAT2A c.2088C>T p.F696F Substitution - coding silent Cervix COSM1301880 SRCAP c.2110G>A p.E704K Substitution - Missense Urinary_tract COSM1411323 NCOA6 c.1997delC p.P666fs*12 Deletion - Frameshift Large_intestine COSM1412238 ZMYND8 c.2008delA p.S670fs*37 Deletion - Frameshift Large_intestine COSM1450075 STK31 c.343G>T p.D115Y Substitution - Missense Large_intestine COSM1351626 KMT2A c.4594C>T p.R1532C Substitution - Missense Skin COSM1512174 ARID2 c.820C>T p.R274* Substitution - Nonsense Skin COSM1608851 CHD2 c.1160A>G p.K387R Substitution - Missense Liver COSM1493795 PRDM7 c.212A>G p.E71G Substitution - Missense Kidney COSM1614493 SP110 c.1862C>T p.S621F Substitution - Missense Liver COSM1583406 SETDB1 c.243C>A p.L81L Substitution - coding silent Endometrium COSM1624026 MYST3 c.2600G>T p.R867L Substitution - Missense Liver COSM1581523 PRDM16 c.2281G>A p.A761T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1686746 PCGF2 c.316+1G>A p.? Unknown Skin COSM1688383 TTF2 c.1687C>T p.P563S Substitution - Missense Skin COSM1756776 KDM5A c.2233C>T p.R745C Substitution - Missense Urinary_tract COSM1977995 PRDM10 c.2882T>C p.V961A Substitution - Missense Upper_aerodigestive_tract COSM2768782 SND1 c.2052C>T p.P684P Substitution - coding silent Large_intestine COSM2818166 BRWD1 c.4036G>C p.E1346Q Substitution - Missense Upper_aerodigestive_tract COSM2834917 CHD9 c.6307C>T p.R2103C Substitution - Missense Bone COSM2919889 CREBBP c.7169C>A p.T2390N Substitution - Missense Upper_aerodigestive_tract COSM2965389 KDM6A c.2380A>C p.T794P Substitution - Missense Upper_aerodigestive_tract COSM3017658 SHPRH c.1422C>T p.Y474Y Substitution - coding silent Stomach COSM3214123 BRD3 c.895C>T p.P299S Substitution - Missense Large_intestine COSM3364160 KDM5C c.850G>T p.E284* Substitution - Nonsense Kidney COSM3358532 PBRM1 c.2090delA p.Y697fs*2 Deletion - Frameshift Kidney COSM3368241 KMT2A c.8335A>G p.K2779E Substitution - Missense Thyroid COSM3376315 BAZ2A_ENST00000379441 c.4795C>T p.R1599W Substitution - Missense Pancreas COSM3405046 PHF20 c.2559G>A p.Q853Q Substitution - coding silent Central_nervous_system COSM3508203 GTF3C1 c.6014C>T p.A2005V Substitution - Missense Skin COSM3474964 ASH1L c.4629C>T p.L1543L Substitution - coding silent Skin COSM3555050 TCF20 c.4286C>T p.P1429L Substitution - Missense Skin COSM3514752 RAI1 c.2750C>T p.P917L Substitution - Missense Skin COSM3682170 ATRX c.5872T>G p.W1958G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3704143 ARID2 c.266T>G p.L89* Substitution - Nonsense Liver COSM3703415 CHD7 c.1288A>G p.M430V Substitution - Missense Liver COSM3722551 KMT2D c.6669G>T p.G2223G Substitution - coding silent Soft_tissue COSM3760036 ZCWPW2 c.651G>A p.K217K Substitution - coding silent Large_intestine COSM3775234 PBRM1 c.4638G>A p.L1546L Substitution - coding silent Urinary_tract COSM3812161 KMT2D c.3493G>A p.D1165N Substitution - Missense Breast COSM3941398 BRD9 c.743C>T p.P248L Substitution - Missense Oesophagus COSM3828657 CHD1 c.1860G>T p.K620N Substitution - Missense Breast COSM3918707 KDM3B c.2148C>T p.S716S Substitution - coding silent Skin COSM3880298 STK31 c.2277C>A p.G759G Substitution - coding silent Large_intestine COSM3950211 KMT2C c.443G>T p.G148V Substitution - Missense Lung COSM3961342 BAZ2B c.774A>C p.E258D Substitution - Missense Lung COSM3958883 KDM6B c.4334A>G p.Y1445C Substitution - Missense Kidney COSM4021553 PRDM2 c.3046G>A p.A1016T Substitution - Missense Stomach COSM4036889 RSF1 c.1444A>C p.T482P Substitution - Missense Stomach COSM4000419 CXXC1 c.910C>T p.L304L Substitution - coding silent Thyroid COSM4093205 NCOA1 c.1128C>A p.D376E Substitution - Missense Stomach COSM4075119 MBD3 c.19G>T p.E7* Substitution - Nonsense Stomach COSM4143810 PRDM16 c.1099G>C p.A367P Substitution - Missense Thyroid COSM4170168 TET2 c.3821_3822delAG p.Q1274fs*25 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM42051 TET2 c.5581G>A p.G1861R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4381931 KMT2C c.943G>T p.G315C Substitution - Missense Oesophagus COSM4388855 ATRX c.4471A>G p.T1491A Substitution - Missense Pancreas COSM4403230 EZH1 c.888A>G p.T296T Substitution - coding silent Skin COSM4566027 TP53BP1 c.2889_2890CC>TT p.H964Y Substitution - Missense Skin COSM4437218 KAT2B c.1783G>C p.E595Q Substitution - Missense Oesophagus COSM4508369 BTAF1 c.773C>T p.A258V Substitution - Missense Skin COSM4538131 TIF1 c.2402G>A p.G801E Substitution - Missense Skin COSM4465549 NCOA3 c.1359C>T p.S453S Substitution - coding silent Skin COSM4474264 BAZ1B c.1908C>T p.S636S Substitution - coding silent Skin COSM4410707 PBRM1 c.435delT p.R146fs*28 Deletion - Frameshift Kidney COSM4663895 ASXL1 c.3740G>A p.R1247H Substitution - Missense Large_intestine COSM4725121 SET c.191G>A p.R64H Substitution - Missense Large_intestine COSM4701403 MECP2 c.240C>T p.S80S Substitution - coding silent Large_intestine COSM4638902 HDAC1 c.1381G>A p.E461K Substitution - Missense Large_intestine COSM4651933 PRDM2 c.3093C>T p.P1031P Substitution - coding silent Large_intestine COSM4887787 BAZ1A c.4457G>T p.C1486F Substitution - Missense Upper_aerodigestive_tract COSM4845211 RSF1 c.3800C>G p.S1267* Substitution - Nonsense Cervix COSM4828532 TBL1XR1 c.1097C>T p.S366F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5020142 TET2 c.1088C>T p.P363L Substitution - Missense Soft_tissue COSM5392041 ACTR5 c.1476C>T p.F492F Substitution - coding silent Skin COSM5440693 NSD1 c.6262C>T p.Q2088* Substitution - Nonsense Oesophagus COSM5453995 SUV420H1 c.1892C>A p.P631Q Substitution - Missense Large_intestine COSM5633312 GTF3C1 c.2734C>G p.L912V Substitution - Missense Oesophagus COSM5612807 ADNP c.1584C>T p.A528A Substitution - coding silent Adrenal_gland COSM5751397 TDRD6 c.11_12insT p.P5fs*155 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5751236 PHF6 c.821G>AG p.R274fs*20 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM5751944 KDM6A c.2646delA p.P883fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5719320 PRMT6 c.931G>A p.D311N Substitution - Missense Skin COSM5749055 PRDM8 c.583G>A p.G195S Substitution - Missense Pancreas COSM5708607 TBL1XR1 c.313C>T p.Q105* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5554959 MGA c.6962G>A p.G2321D Substitution - Missense Prostate COSM5767298 BRWD1 c.394C>T p.H132Y Substitution - Missense Breast COSM5784091 CLOCK c.102G>A p.A34A Substitution - coding silent Breast COSM5834562 ZBTB38 c.3257_3258insA p.I1087fs*35 Insertion - Frameshift Breast COSM5945036 TET2 c.2872C>T p.Q958* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5903922 SRCAP c.8816G>A p.R2939Q Substitution - Missense Skin COSM5915743 TRRAP c.10812C>T p.V3604V Substitution - coding silent Skin COSM5958200 CBX2 c.374A>G p.D125G Substitution - Missense Thyroid COSM5954288 ORC1 c.353C>T p.P118L Substitution - Missense Upper_aerodigestive_tract COSM5990324 EP400 c.3959A>C p.N1320T Substitution - Missense Liver COSM5997558 ACTB c.54G>A p.K18K Substitution - coding silent Prostate COSM5983511 UHRF2 c.226G>A p.D76N Substitution - Missense Upper_aerodigestive_tract COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41745 TET2 c.1196C>T p.P399L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM166348 DNMT3A c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM166348 DNMT3A c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM51384 IDH1 c.? p.R132L Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5988465 HNF1A c.? p.R278W Substitution - Missense Peritoneum COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5752716 KDM6A c.3736+1G>C p.? Unknown Breast COSM39432 PCGF2 c.190C>T p.R64W Substitution - Missense Skin COSM1423626 SMARCC1 c.823_824delAT p.I275fs*3 Deletion - Frameshift Large_intestine COSM485539 BAZ1B c.3100C>G p.L1034V Substitution - Missense Kidney COSM3361265 SMEK1 c.1574G>T p.R525L Substitution - Missense Kidney COSM4054463 INOC1 c.3979A>G p.I1327V Substitution - Missense Stomach COSM5592806 RAI1 c.2945C>T p.P982L Substitution - Missense Skin COSM251143 SMEK1 c.1619T>C p.L540S Substitution - Missense Liver COSM1299721 MBD6 c.1138G>C p.G380R Substitution - Missense Urinary_tract COSM5511337 ZMYM3 c.3433-1G>A p.? Unknown Biliary_tract COSM96384 ASXL1 c.3148A>G p.M1050V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3589832 MECOM c.3064C>T p.H1022Y Substitution - Missense Skin COSM4590380 KMT2C c.7443A>T p.R2481S Substitution - Missense Upper_aerodigestive_tract COSM940042 KMT2D c.6954C>T p.H2318H Substitution - coding silent Endometrium COSM3642802 TRRAP c.6616C>T p.P2206S Substitution - Missense Skin COSM487852 MSL3 c.1126G>A p.D376N Substitution - Missense Kidney COSM1257400 MBD4 c.1483G>C p.D495H Substitution - Missense Oesophagus COSM136035 KMT2A c.11594C>T p.S3865F Substitution - Missense Skin COSM1307272 ASXL1 c.168C>G p.L56L Substitution - coding silent Urinary_tract COSM1061361 KDM3B c.4378C>T p.R1460W Substitution - Missense Endometrium COSM4590380 KMT2C c.7443A>T p.R2481S Substitution - Missense Upper_aerodigestive_tract COSM4151537 CHD7 c.5557G>A p.E1853K Substitution - Missense Ovary COSM4411470 SMARCA1 c.1971_1972insTT p.N658fs*12 Insertion - Frameshift Kidney COSM5032817 SRCAP c.8246A>C p.K2749T Substitution - Missense Oesophagus COSM4071694 AP001011.3_ENST00000320876 c.1548T>C p.N516N Substitution - coding silent Stomach COSM1414221 PRDM15 c.2617C>T p.R873C Substitution - Missense Large_intestine COSM3405081 CHD6 c.6376C>T p.P2126S Substitution - Missense Central_nervous_system COSM923578 KMT2A c.3619C>T p.Q1207* Substitution - Nonsense Endometrium COSM1714421 EP300 c.3233C>T p.P1078L Substitution - Missense Skin COSM4575255 ATF7IP c.3281G>C p.S1094T Substitution - Missense Bone COSM1399865 EPC2 c.2351+1_2351+2delGT p.? Unknown Large_intestine COSM1641413 DIDO1 c.6006_6007insA p.E2003fs*90 Insertion - Frameshift Stomach COSM5655794 SRCAP c.9161C>T p.S3054F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1211735 KDM4B c.2077T>C p.Y693H Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5753474 EPC1 c.2465C>T p.A822V Substitution - Missense Large_intestine COSM3730023 HDAC5 c.2793_2794insC p.I932fs*24 Insertion - Frameshift Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5352115 TDRD3 c.108C>T p.L36L Substitution - coding silent Kidney COSM5900977 ACTA1 c.319C>T p.L107F Substitution - Missense Skin COSM3365393 PBRM1 c.1583A>T p.N528I Substitution - Missense Kidney COSM3854569 PRDM9 c.1202A>C p.K401T Substitution - Missense Stomach COSM221796 TDG c.602A>C p.K201T Substitution - Missense Skin COSM1668955 SMEK2 c.268T>C p.C90R Substitution - Missense Large_intestine COSM5443948 PHRF1 c.1590C>T p.L530L Substitution - coding silent Oesophagus COSM337119 SMARCC1 c.2120A>T p.D707V Substitution - Missense Lung COSM43417 TET2 c.2746C>T p.Q916* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3555054 TCF20 c.2884C>T p.R962C Substitution - Missense Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM988400 SETBP1 c.4065G>A p.V1355V Substitution - coding silent Endometrium COSM4387442 BAP1 c.1729G>C p.E577Q Substitution - Missense Eye COSM228520 ZMYND11 c.157-1G>A p.? Unknown Skin COSM4500388 DIDO1 c.5649C>T p.G1883G Substitution - coding silent Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2808475 AP001011.3_ENST00000320876 c.263A>G p.D88G Substitution - Missense Breast COSM4163947 UHRF2 c.1479T>G p.G493G Substitution - coding silent Thyroid COSM41292 IDH1 c.? p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3377871 SRCAP c.6678T>A p.P2226P Substitution - coding silent Pancreas COSM5507586 TDRD5 c.2236C>T p.P746S Substitution - Missense Biliary_tract COSM5363372 SRCAP c.510C>T p.I170I Substitution - coding silent Large_intestine COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM225242 PRDM1 c.247G>A p.E83K Substitution - Missense Skin COSM5456836 DIDO1 c.3711G>A p.S1237S Substitution - coding silent Large_intestine COSM3742300 MYST2 c.465G>A p.K155K Substitution - coding silent Liver COSM3750192 PHF2 c.2964G>T p.P988P Substitution - coding silent Large_intestine COSM5438947 MTF2 c.729-5C>T p.? Unknown Oesophagus COSM4731004 SUV420H2 c.64G>A p.V22I Substitution - Missense Large_intestine COSM21740 SMARCA1 c.1815+1G>A p.? Unknown Skin COSM5878978 TET2 c.2493_2494delGG p.Q831fs*14 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM327307 SMARCB1 c.864C>A p.N288K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1696202 PHF15 c.682C>T p.Q228* Substitution - Nonsense Skin COSM5048924 PBRM1 c.1148C>G p.S383* Substitution - Nonsense Oesophagus COSM4444866 EP300 c.4235C>T p.A1412V Substitution - Missense Large_intestine COSM3378087 NCOR1 c.1395C>G p.Y465* Substitution - Nonsense Pancreas COSM3430899 PHIP c.3928C>T p.R1310C Substitution - Missense Stomach COSM1308800 MECOM c.790G>T p.D264Y Substitution - Missense Urinary_tract COSM751075 CHD7 c.1375C>A p.R459S Substitution - Missense Lung COSM1071087 BRD9 c.54C>T p.A18A Substitution - coding silent Skin COSM3810829 TDG c.1009G>A p.G337S Substitution - Missense Breast COSM969243 GTF3C1 c.6192C>T p.P2064P Substitution - coding silent Endometrium COSM1158215 NCOA3 c.981T>C p.H327H Substitution - coding silent Pancreas COSM2768784 SND1 c.2163delC p.P723fs*2 Deletion - Frameshift Large_intestine COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4802586 BAHCC1 c.2785C>T p.R929W Substitution - Missense Liver COSM1495031 DNMT3B c.1243C>A p.Q415K Substitution - Missense Kidney COSM3562455 PHF8 c.306G>A p.V102V Substitution - coding silent Skin COSM919999 SFMBT2 c.2667C>T p.Y889Y Substitution - coding silent Endometrium COSM5348618 ARID2 c.2719_2720insT p.S907fs*44 Insertion - Frameshift Liver COSM4746504 DOT1L c.3646delA p.T1217fs*110 Deletion - Frameshift Stomach COSM4162024 KMT2C c.946A>T p.T316S Substitution - Missense Upper_aerodigestive_tract COSM1331711 ZMYM3 c.277C>G p.P93A Substitution - Missense Ovary COSM3371808 BRWD1 c.359A>G p.H120R Substitution - Missense Thyroid COSM279795 CDYL2 c.623C>A p.A208D Substitution - Missense Large_intestine COSM3563112 ZMYM3 c.1385C>T p.T462I Substitution - Missense Skin COSM3523595 BAHCC1 c.5819C>T p.S1940F Substitution - Missense Skin COSM1606148 ARID2 c.4938C>T p.P1646P Substitution - coding silent Liver COSM4931792 PHF21B c.511G>T p.V171L Substitution - Missense Liver COSM276731 PHIP c.3838T>G p.L1280V Substitution - Missense Large_intestine COSM988856 CXXC1 c.1877T>C p.M626T Substitution - Missense Endometrium COSM41732 TET2 c.2504C>G p.S835* Substitution - Nonsense Upper_aerodigestive_tract COSM88090 KMT2D c.15691C>T p.R5231* Substitution - Nonsense Breast COSM5370103 TDRD1 c.807G>A p.T269T Substitution - coding silent Oesophagus COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM88770 CREBBP c.3301_3302ins41 p.L1101fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM171460 POGZ c.3220C>T p.R1074C Substitution - Missense Large_intestine COSM5985482 KDM6A c.2773T>A p.S925T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1071743 PRDM1 c.1163G>T p.G388V Substitution - Missense Endometrium COSM487512 KDM4C c.2250G>A p.A750A Substitution - coding silent Kidney COSM5363979 SMYD4 c.1515G>A p.A505A Substitution - coding silent Large_intestine COSM2225860 SETD8 c.970C>T p.R324* Substitution - Nonsense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3874520 TDRD6 c.1746C>T p.D582D Substitution - coding silent Stomach COSM488664 BRWD3 c.3181G>A p.A1061T Substitution - Missense Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2155236 SETBP1 c.4362C>T p.R1454R Substitution - coding silent Central_nervous_system COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1622309 SND1 c.520C>T p.R174W Substitution - Missense Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3705051 ASH1L c.4550A>G p.Y1517C Substitution - Missense Liver COSM30721 ASH1L c.5130G>A p.G1710G Substitution - coding silent Kidney COSM4728350 SMARCD1 c.403C>T p.R135C Substitution - Missense Large_intestine COSM1178708 CHD2 c.2T>C p.M1T Substitution - Missense Prostate COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5815041 CBX2 c.1135A>T p.K379* Substitution - Nonsense Liver COSM961217 BAHD1 c.2276A>T p.E759V Substitution - Missense Endometrium COSM41293 IDH1 c.? p.R132S Substitution - Missense Biliary_tract COSM133135 DNMT3A c.2385G>C p.W795C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4384054 NSD1 c.1544A>G p.H515R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1296337 ZMYM1 c.959C>T p.S320L Substitution - Missense Urinary_tract COSM473480 KDM6B c.2635G>T p.A879S Substitution - Missense Upper_aerodigestive_tract COSM1056173 CLOCK c.312C>G p.F104L Substitution - Missense Endometrium COSM4466593 BRPF3 c.1442C>T p.S481F Substitution - Missense Skin COSM20998 TAF1 c.983_988delTAGATA p.I328_K330>K Complex - deletion inframe Breast COSM5244665 KDM2B c.1244G>C p.R415P Substitution - Missense Liver COSM5547439 EZH2 c.1919delA p.N640fs*35 Deletion - Frameshift Prostate COSM1602133 ARID1A c.318_330del13 p.A107fs*3 Deletion - Frameshift Liver COSM1756790 MBD6 c.1277C>G p.S426C Substitution - Missense Urinary_tract COSM376892 BAZ1B c.3695A>T p.Q1232L Substitution - Missense Lung COSM5600552 SP110 c.733C>T p.P245S Substitution - Missense Skin COSM253812 PRMT7 c.1965C>G p.A655A Substitution - coding silent Urinary_tract COSM4584831 PRMT10 c.1208G>A p.G403D Substitution - Missense Bone COSM87213 KMT2C c.10840_10842delGAT p.D3614del Deletion - In frame Central_nervous_system COSM1458062 PRDM14 c.27C>T p.A9A Substitution - coding silent Large_intestine COSM227168 ACTR5 c.1240C>T p.P414S Substitution - Missense Skin COSM4617033 JMJD1C c.128G>A p.R43H Substitution - Missense Large_intestine COSM4708347 NSD1 c.2766G>A p.T922T Substitution - coding silent Prostate COSM2037148 PHRF1 c.4125G>A p.G1375G Substitution - coding silent Large_intestine COSM1211730 KDM3B c.3082C>T p.R1028W Substitution - Missense Large_intestine COSM275627 KAT2B c.1594G>T p.E532* Substitution - Nonsense Large_intestine COSM4480665 RBBP5 c.243C>T p.L81L Substitution - coding silent Skin COSM203716 PRDM10 c.2568C>T p.F856F Substitution - coding silent Skin COSM78872 ARID4B c.2805G>A p.W935* Substitution - Nonsense Ovary COSM989551 L3MBTL4 c.700G>A p.D234N Substitution - Missense Endometrium COSM147595 TDG c.510G>A p.E170E Substitution - coding silent Thyroid COSM3469192 SETDB2 c.317C>T p.S106F Substitution - Missense Skin COSM431211 KMT2D c.8895G>C p.K2965N Substitution - Missense Breast COSM5043431 TDRD6 c.3262G>T p.V1088F Substitution - Missense Liver COSM100082 KMT2C c.8390_8390delA p.K2797fs*26 Deletion - Frameshift Large_intestine COSM1067093 PRDM9 c.2379T>A p.S793R Substitution - Missense Large_intestine COSM5685302 MBD5 c.3597G>C p.G1199G Substitution - coding silent Soft_tissue COSM5518838 CHD7 c.4125C>T p.L1375L Substitution - coding silent Biliary_tract COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1472109 MYST3 c.614C>T p.P205L Substitution - Missense Prostate COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM328978 KMT2C c.8390delA p.K2797fs*26 Deletion - Frameshift Skin COSM252975 CHD1 c.2181-4delT p.? Unknown Skin COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM703192 MYST1 c.831C>T p.Y277Y Substitution - coding silent Lung COSM1192967 KAT6B c.3217_3218insG p.E1073fs*19 Insertion - Frameshift Lung COSM4647814 INOC1 c.147T>C p.D49D Substitution - coding silent Large_intestine COSM5985127 IKZF1 c.? p.E251K Substitution - Missense Salivary_gland COSM5767261 CHD8 c.6310G>T p.E2104* Substitution - Nonsense Breast COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4591901 NCOR1 c.618+6T>A p.? Unknown Upper_aerodigestive_tract COSM1383594 HDAC5 c.2793delC p.I932fs*14 Deletion - Frameshift Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1185395 RBBP4 c.316G>T p.G106* Substitution - Nonsense Lung COSM3438380 ERCC6 c.2622C>T p.F874F Substitution - coding silent Skin COSM28778 KDM6A c.1621C>T p.Q541* Substitution - Nonsense Kidney COSM4870921 CHD4 c.2375G>A p.R792Q Substitution - Missense Endometrium COSM5723933 CHD7 c.3764C>T p.P1255L Substitution - Missense Skin COSM3732260 JMJD5 c.866T>C p.I289T Substitution - Missense Stomach COSM4170151 TET2 c.3763_3764insA p.Y1255fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM106672 RAG2 c.968G>A p.G323E Substitution - Missense Skin COSM377742 NCOA2 c.4042C>T p.Q1348* Substitution - Nonsense Lung COSM1109532 UHRF2 c.1901G>A p.R634H Substitution - Missense Endometrium COSM286723 ZMYM6 c.796-1G>T p.? Unknown Large_intestine COSM3950205 KMT2C c.7443-6T>A p.? Unknown Lung COSM1718933 GATAD2B c.511G>A p.D171N Substitution - Missense Skin COSM3738473 TET2 c.? p.G1519fs*52 Frameshift Haematopoietic_and_lymphoid_tissue COSM3801020 RUVBL1 c.12G>C p.E4D Substitution - Missense Urinary_tract COSM3499648 SETD3 c.1449T>G p.A483A Substitution - coding silent Skin COSM1679817 KAT2A c.511C>T p.R171* Substitution - Nonsense Large_intestine COSM4151287 GTF3C1 c.1287T>A p.I429I Substitution - coding silent Kidney COSM2038970 MTA2 c.1664delG p.G555fs*4 Deletion - Frameshift Large_intestine COSM4735457 TP53BP1 c.1604G>T p.R535I Substitution - Missense Large_intestine COSM4104428 EP300 c.982C>T p.H328Y Substitution - Missense Stomach COSM3632397 ING3 c.947C>T p.S316F Substitution - Missense Skin COSM1673712 KMT2C c.5380C>G p.L1794V Substitution - Missense Ovary COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2098491 CHD4 c.3202C>T p.R1068C Substitution - Missense Skin COSM1753512 PRDM5 c.817C>A p.L273M Substitution - Missense Urinary_tract COSM1034579 EP300 c.6892C>T p.Q2298* Substitution - Nonsense Large_intestine COSM4956655 ING5 c.270C>T p.Y90Y Substitution - coding silent Liver COSM3411827 KMT2C c.4377A>G p.S1459S Substitution - coding silent Central_nervous_system COSM5618027 EHMT1 c.35C>G p.A12G Substitution - Missense Breast COSM4836053 RAD54L c.821C>G p.S274C Substitution - Missense Cervix COSM3422185 SETBP1 c.2281G>A p.V761M Substitution - Missense Large_intestine COSM3770798 CHD6 c.1880G>C p.G627A Substitution - Missense Pancreas COSM247695 TAF1 c.3064C>G p.R1022G Substitution - Missense Prostate COSM5355181 SMARCC1 c.1000C>T p.P334S Substitution - Missense Large_intestine COSM4960544 MPHOSPH8 c.1148C>T p.A383V Substitution - Missense Liver COSM5886380 BRD8 c.2719C>T p.P907S Substitution - Missense Skin COSM5015587 BRD4 c.512T>C p.I171T Substitution - Missense Kidney COSM4929201 KAT5 c.921G>T p.K307N Substitution - Missense Liver COSM5045073 TBL1XR1 c.1267A>C p.T423P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5573647 DOT1L c.5198C>T p.S1733L Substitution - Missense Prostate COSM4092262 SP140_ENST00000392045 c.1838A>C p.K613T Substitution - Missense Stomach COSM5502633 SP110 c.869G>T p.R290M Substitution - Missense Biliary_tract COSM1357131 RSF1 c.53G>A p.G18D Substitution - Missense Large_intestine COSM5721127 KMT2C c.5475C>T p.F1825F Substitution - coding silent Skin COSM346190 MYST3 c.2447C>G p.S816C Substitution - Missense Lung COSM1163754 ATAD2 c.3536delA p.K1179fs*16 Deletion - Frameshift Pancreas COSM244664 GATAD2B c.1782A>G p.*594* Substitution - coding silent Prostate COSM1734601 KDM6A c.2738_2739insT p.L914fs*4 Insertion - Frameshift Pancreas COSM4632206 MTF2 c.334T>C p.Y112H Substitution - Missense Large_intestine COSM4706986 NIPBL c.5587A>C p.S1863R Substitution - Missense Large_intestine COSM4590784 ATF7IP c.2647C>A p.Q883K Substitution - Missense Upper_aerodigestive_tract COSM3262068 SMARCD3 c.380G>A p.R127Q Substitution - Missense Skin COSM4427561 RSF1 c.2209A>T p.I737F Substitution - Missense Oesophagus COSM167320 ADNP c.1395C>T p.F465F Substitution - coding silent Endometrium COSM4689576 HCFC1 c.5002delC p.Q1668fs*17 Deletion - Frameshift Large_intestine COSM4848172 GTF3C1 c.1584G>C p.L528F Substitution - Missense Cervix COSM1028970 DIDO1 c.5139C>T p.S1713S Substitution - coding silent Endometrium COSM3998898 MBD6 c.2341G>C p.G781R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5879022 TET2 c.3785G>C p.R1262P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1180774 KDM5A c.3597delA p.G1200fs*9 Deletion - Frameshift Large_intestine COSM5702518 BAP1 c.160_173del14 p.E54fs*10 Deletion - Frameshift Eye COSM326794 TTF2 c.596G>A p.G199E Substitution - Missense Lung COSM3746940 PHC2 c.760C>T p.P254S Substitution - Missense Pancreas COSM3087152 BAZ1B c.2048T>C p.L683S Substitution - Missense Large_intestine COSM5751771 KDM6A c.2720_2721insT p.S909fs*2 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3906833 TAF1L c.5241A>T p.E1747D Substitution - Missense Stomach COSM5810314 MGA c.6540A>T p.P2180P Substitution - coding silent Liver COSM1215172 KMT2A c.2858C>T p.T953I Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5706304 NCOR1 c.1051A>T p.K351* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3461587 KMT2D c.4923C>T p.T1641T Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4770596 PRDM15 c.414-6C>G p.? Unknown Adrenal_gland COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM4831603 MBD4 c.1597G>T p.E533* Substitution - Nonsense Cervix COSM4932104 BRD9 c.911A>T p.D304V Substitution - Missense Liver COSM1023003 INO80B c.411G>A p.Q137Q Substitution - coding silent Endometrium COSM209777 IDH1 c.97C>T p.P33S Substitution - Missense Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3440912 TAF3 c.1990C>T p.P664S Substitution - Missense Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1109476 KIAA2026_ENST00000399933 c.1720C>T p.R574C Substitution - Missense Large_intestine COSM1303962 CARM1 c.1350C>T p.I450I Substitution - coding silent Urinary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM255070 KDM6A c.3351_3353delTCT p.L1119delL Deletion - In frame Urinary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5763715 ARID2 c.3355C>T p.Q1119* Substitution - Nonsense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM939003 KDM5A c.4478G>T p.S1493I Substitution - Missense Endometrium COSM4063045 CDYL2 c.399G>T p.K133N Substitution - Missense Stomach COSM2188260 TP53BP1 c.5867G>A p.R1956K Substitution - Missense Bone COSM4169855 MEN1 c.? p.R516fs*43 Unknown Adrenal_gland COSM4146787 SETD8 c.995T>C p.L332P Substitution - Missense Large_intestine COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Biliary_tract COSM5601817 KMT2C c.13836C>T p.V4612V Substitution - coding silent Skin COSM5753351 PBRM1 c.? p.I571V Substitution - Missense Kidney COSM693056 ATF7IP c.3694C>G p.Q1232E Substitution - Missense Lung COSM21959 SMARCB1 c.346C>A p.P116T Substitution - Missense Pancreas COSM28807 KDM6A c.1-?_1923+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM4455678 SRCAP c.8593A>T p.K2865* Substitution - Nonsense Skin COSM1287660 RNF2 c.183C>T p.T61T Substitution - coding silent Autonomic_ganglia COSM697917 BAZ1A c.1327G>C p.D443H Substitution - Missense Lung COSM1066281 NSD1 c.5604A>G p.P1868P Substitution - coding silent Endometrium COSM1717115 CTCF c.1660G>T p.A554S Substitution - Missense Ovary COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3657075 KIAA1045 c.1141G>A p.V381I Substitution - Missense Skin COSM3389892 DIDO1 c.444C>T p.H148H Substitution - coding silent Pancreas COSM4955869 TAF1L c.694G>A p.A232T Substitution - Missense Liver COSM4381564 ZMYM1 c.538A>G p.T180A Substitution - Missense Large_intestine COSM3064250 BRD1 c.721G>A p.V241M Substitution - Missense Large_intestine COSM5481310 FTO c.1365-2A>G p.? Unknown Large_intestine COSM1676160 MEN1 c.914G>A p.G305D Substitution - Missense Lung COSM5440884 ZBTB4 c.1242C>G p.L414L Substitution - coding silent Oesophagus COSM5567957 PCGF2 c.857C>T p.S286F Substitution - Missense Skin COSM3262552 KMT2C c.10588delT p.S3530fs*3 Deletion - Frameshift Large_intestine COSM4963432 BRWD3 c.2472A>T p.S824S Substitution - coding silent Pancreas COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM30586 SMARCA4 c.1733_1761+40del69 p.? Unknown Lung COSM51441 ARID1A c.5161C>T p.R1721* Substitution - Nonsense Stomach COSM51984 BAP1 c.2188T>A p.*730? Nonstop extension Eye COSM51219 ARID1A c.6828_6829delTG p.C2276fs*1 Deletion - Frameshift Ovary COSM106942 CREBBP c.7318G>A p.E2440K Substitution - Missense Skin COSM110184 KDM2B c.401C>T p.T134I Substitution - Missense Skin COSM110612 TAF1L c.689C>T p.P230L Substitution - Missense Skin COSM112121 PRDM2 c.2104_2105insCTC p.P703_A704insP Insertion - In frame Upper_aerodigestive_tract COSM125594 PRMT5 c.736C>T p.L246F Substitution - Missense Upper_aerodigestive_tract COSM131064 TTF2 c.1117G>T p.D373Y Substitution - Missense Liver COSM126808 KMT2C c.10880C>G p.S3627* Substitution - Nonsense Upper_aerodigestive_tract COSM144223 ATRX c.4276C>T p.R1426* Substitution - Nonsense Central_nervous_system COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Central_nervous_system COSM149915 BRD8 c.3684G>A p.V1228V Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM148423 SETBP1 c.3301G>A p.V1101I Substitution - Missense Soft_tissue COSM166408 CREBBP c.4471C>A p.Q1491K Substitution - Missense Soft_tissue COSM183222 HDGFL1 c.198C>T p.F66F Substitution - coding silent Stomach COSM212434 KDM6A c.3763C>T p.R1255W Substitution - Missense Pancreas COSM245968 NCOA6 c.807G>A p.Q269Q Substitution - coding silent Kidney COSM249438 KDM5C c.840_841insGATG p.V281fs*10 Insertion - Frameshift Kidney COSM239498 CXXC1 c.1889C>T p.A630V Substitution - Missense Prostate COSM239308 CHD3 c.1730delT p.M577fs*33 Deletion - Frameshift Prostate COSM239311 CHD6 c.2956C>T p.R986* Substitution - Nonsense Prostate COSM268880 CHD3 c.639G>A p.A213A Substitution - coding silent Large_intestine COSM283996 PHIP c.5131C>T p.R1711C Substitution - Missense Large_intestine COSM371722 HDAC7 c.1937C>G p.T646S Substitution - Missense Lung COSM396785 KMT2C c.2674G>A p.G892R Substitution - Missense Skin COSM459127 RAD54L c.460C>T p.R154W Substitution - Missense Central_nervous_system COSM988853 CXXC1 c.1929C>T p.H643H Substitution - coding silent Endometrium COSM480910 SMARCA5 c.2992C>A p.Q998K Substitution - Missense Kidney COSM679571 SMYD3 c.643G>A p.D215N Substitution - Missense Lung COSM680965 ZMYM1 c.3121G>C p.D1041H Substitution - Missense Lung COSM942093 MBD6 c.2726G>T p.R909I Substitution - Missense Endometrium COSM1051391 SETD7 c.934C>T p.R312C Substitution - Missense Endometrium COSM1028993 DIDO1 c.1568C>T p.S523L Substitution - Missense Endometrium COSM1026316 PHF20 c.2777G>T p.R926I Substitution - Missense Endometrium COSM729710 FXR1 c.38G>T p.G13V Substitution - Missense Lung COSM934526 PRDM4 c.904G>T p.A302S Substitution - Missense Endometrium COSM926757 RAG2 c.812T>G p.F271C Substitution - Missense Endometrium COSM1040963 MECOM c.2249G>A p.R750Q Substitution - Missense Large_intestine COSM1067069 PRDM9 c.721A>G p.S241G Substitution - Missense Endometrium COSM1067084 PRDM9 c.1364A>G p.E455G Substitution - Missense Endometrium COSM1117759 HCFC1 c.1147+2T>C p.? Unknown Endometrium COSM1087607 KMT2C c.4727C>A p.S1576Y Substitution - Missense Endometrium COSM1079918 TDRD6 c.5843C>A p.S1948Y Substitution - Missense Endometrium COSM1239828 PHRF1 c.3318_3320delGAA p.K1110delK Deletion - In frame Oesophagus COSM1233146 ZBTB4 c.1942G>A p.E648K Substitution - Missense Large_intestine COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1232736 WHSC1 c.1279G>A p.A427T Substitution - Missense Large_intestine COSM1209178 GTF3C4 c.2410G>A p.D804N Substitution - Missense Large_intestine COSM1183559 ARID1B c.1528G>A p.G510R Substitution - Missense Large_intestine COSM1162748 BRD9 c.928A>T p.M310L Substitution - Missense Upper_aerodigestive_tract COSM1162975 RSF1 c.3155T>A p.I1052N Substitution - Missense Pancreas COSM1693779 MECOM c.1751_1752CC>TT p.P584L Substitution - Missense Skin COSM1223039 RAG2 c.443G>A p.R148Q Substitution - Missense Soft_tissue COSM1180098 KMT2C c.1005T>A p.P335P Substitution - coding silent Soft_tissue COSM1226776 SMARCB1 c.934G>A p.A312T Substitution - Missense Large_intestine COSM1606143 ARID2 c.4190_4191insGACT p.L1399fs*13 Insertion - Frameshift Liver COSM42029 TET2 c.3646C>T p.R1216* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1388724 SETBP1 c.3099delT p.L1035fs*26 Deletion - Frameshift Breast COSM1412152 NCOA5 c.523C>T p.R175W Substitution - Missense Large_intestine COSM1424679 ACTR8 c.1042G>T p.E348* Substitution - Nonsense Large_intestine COSM1420548 PHC3 c.136G>A p.A46T Substitution - Missense Large_intestine COSM1466729 MECP2 c.1316C>T p.A439V Substitution - Missense Large_intestine COSM1448351 TIF1 c.641G>T p.G214V Substitution - Missense Large_intestine COSM1453185 TRRAP c.5238C>T p.F1746F Substitution - coding silent Large_intestine COSM1363779 CHD4 c.218delA p.K73fs*129 Deletion - Frameshift Large_intestine COSM1361991 KMT2D c.10770_10772delGCA p.Q3593delQ Deletion - In frame Large_intestine COSM1364340 APOBEC1 c.346G>A p.V116I Substitution - Missense Stomach COSM1608849 CHD2 c.500A>G p.E167G Substitution - Missense Liver COSM1627640 TAF3 c.385C>T p.P129S Substitution - Missense Liver COSM1642872 EYA4 c.961A>G p.N321D Substitution - Missense Stomach COSM1682569 KDM6A c.3614T>G p.V1205G Substitution - Missense Large_intestine COSM1675286 JMJD1C c.2206A>G p.K736E Substitution - Missense Large_intestine COSM1675578 TDRD1 c.2803G>A p.E935K Substitution - Missense Skin COSM1757206 TRRAP c.6020A>T p.Q2007L Substitution - Missense Urinary_tract COSM1979518 PRDM11 c.955C>T p.R319C Substitution - Missense Large_intestine COSM2152570 BRPF1 c.2333T>G p.V778G Substitution - Missense Central_nervous_system COSM2140940 CHD2 c.3602G>C p.G1201A Substitution - Missense Oesophagus COSM2739009 NCOR1 c.3649G>A p.G1217R Substitution - Missense Upper_aerodigestive_tract COSM2772277 TAF1L c.1167G>A p.K389K Substitution - coding silent Large_intestine COSM2893392 HAT1 c.1053C>T p.Y351Y Substitution - coding silent Large_intestine COSM3132335 WHSC1 c.2877A>G p.K959K Substitution - coding silent Upper_aerodigestive_tract COSM3361172 ARID4A c.517G>T p.E173* Substitution - Nonsense Kidney COSM3364303 EPC2 c.843A>C p.E281D Substitution - Missense Kidney COSM3378480 ASXL3 c.1593G>A p.P531P Substitution - coding silent Pancreas COSM3395313 WHSC1L1 c.222A>G p.P74P Substitution - coding silent Pancreas COSM3406468 KDM5C c.1879C>T p.R627C Substitution - Missense Central_nervous_system COSM3474974 ASH1L c.2225T>A p.F742Y Substitution - Missense Skin COSM3546365 CHD6 c.3557G>A p.G1186E Substitution - Missense Skin COSM3779339 EYA1 c.573A>T p.T191T Substitution - coding silent Urinary_tract COSM3782728 KMT2D c.8131C>G p.L2711V Substitution - Missense Prostate COSM3799495 PHF20 c.1660G>A p.E554K Substitution - Missense Urinary_tract COSM3836958 EPC2 c.816-1G>T p.? Unknown Breast COSM3821360 ASXL3 c.153G>C p.K51N Substitution - Missense Breast COSM3845402 ATRX c.3161C>T p.S1054F Substitution - Missense Breast COSM3874529 TDRD6 c.3128A>G p.K1043R Substitution - Missense Stomach COSM3885121 RNF17 c.142G>A p.E48K Substitution - Missense Skin COSM3889032 CDYL2 c.287C>T p.P96L Substitution - Missense Skin COSM3969351 CHD2 c.1322T>C p.I441T Substitution - Missense Central_nervous_system COSM4035915 KDM2A c.2388A>T p.G796G Substitution - coding silent Stomach COSM3986700 KDM2B c.1351C>T p.L451L Substitution - coding silent Kidney COSM3985594 EPC1 c.827G>C p.G276A Substitution - Missense Kidney COSM4098459 CHD6 c.2973C>T p.T991T Substitution - coding silent Stomach COSM4068939 BPTF c.7898T>C p.L2633P Substitution - Missense Stomach COSM4064160 NCOR1 c.4120A>G p.T1374A Substitution - Missense Stomach COSM4058017 CHD2 c.671G>A p.R224Q Substitution - Missense Stomach COSM4161998 KMT2C c.2726G>A p.R909K Substitution - Missense Upper_aerodigestive_tract COSM4170130 TET2 c.5456_5462delTAAGTGA p.S1820fs*11 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4213777 RNF17 c.56G>A p.G19E Substitution - Missense Skin COSM4388398 MBD5 c.668G>A p.S223N Substitution - Missense Pancreas COSM4383788 TET2 c.1249C>T p.Q417* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4383564 DNMT3A c.1603T>C p.S535P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4404585 BRD3 c.972C>T p.S324S Substitution - coding silent Skin COSM4602848 BPTF c.8028_8029insCCTCCAGCC p.P2684_P2685insAPP Insertion - In frame Upper_aerodigestive_tract COSM4445212 CHD7 c.995delT p.L332fs*1 Deletion - Frameshift Large_intestine COSM4762875 MECP2 c.1388C>A p.S463* Substitution - Nonsense Stomach COSM4652932 CBX8 c.166G>A p.A56T Substitution - Missense Large_intestine COSM4778809 BAZ2A c.1249+10G>A p.? Unknown Liver COSM4928389 EPC1 c.344A>G p.Y115C Substitution - Missense Liver COSM4933696 SHPRH c.3584T>C p.F1195S Substitution - Missense Liver COSM4856673 NSD1 c.1499G>C p.R500T Substitution - Missense Cervix COSM4855835 ASH1L c.6930G>A p.K2310K Substitution - coding silent Cervix COSM4878976 DHX30 c.577G>A p.E193K Substitution - Missense Prostate COSM4823015 PRDM9 c.1299G>T p.G433G Substitution - coding silent Cervix COSM4954396 IDH2 c.178C>G p.R60G Substitution - Missense Liver COSM5002821 KMT2A c.3105C>A p.C1035* Substitution - Nonsense Pancreas COSM5051784 BAZ2A c.4023G>A p.P1341P Substitution - coding silent Stomach COSM5095301 SETBP1 c.552G>A p.R184R Substitution - coding silent Thymus COSM5120259 ATRX c.1540G>T p.D514Y Substitution - Missense Large_intestine COSM5037043 CHD6 c.7339C>T p.R2447W Substitution - Missense Oesophagus COSM5074342 SETD1A c.1039_1041delTCC p.S357delS Deletion - In frame Large_intestine COSM5347470 ARID1A c.4642_4654del13 p.H1548fs*13 Deletion - Frameshift Liver COSM5342558 INOC1 c.1004G>A p.R335H Substitution - Missense Large_intestine COSM5408358 TRRAP c.5325C>T p.L1775L Substitution - coding silent Skin COSM5392555 DIDO1 c.1137G>A p.K379K Substitution - coding silent Skin COSM5371773 KMT2A c.4357G>T p.E1453* Substitution - Nonsense Skin COSM5482728 ZBTB38 c.1242C>A p.T414T Substitution - coding silent Large_intestine COSM5449142 L3MBTL4 c.1504C>T p.H502Y Substitution - Missense Large_intestine COSM5753519 JMJD1C c.2539C>T p.Q847* Substitution - Nonsense Large_intestine COSM5741980 SETD4 c.475G>A p.A159T Substitution - Missense Small_intestine COSM5748960 ZMYM3 c.2206C>T p.R736C Substitution - Missense Pancreas COSM5620482 CHD4 c.640A>G p.T214A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5572841 SETDB1 c.2336A>T p.Y779F Substitution - Missense Prostate COSM5776779 EPC1 c.1664G>A p.R555Q Substitution - Missense Breast COSM5785924 PRDM1 c.891C>A p.T297T Substitution - coding silent Breast COSM5879035 TET2 c.4116delT p.A1373fs*75 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5935839 BAZ2A_ENST00000379441 c.424C>T p.L142F Substitution - Missense Skin COSM5922569 TDRD6 c.620C>T p.S207L Substitution - Missense Skin COSM5980994 SETD6 c.248G>A p.G83D Substitution - Missense Upper_aerodigestive_tract COSM5981082 SMYD4 c.643delA p.T215fs*7 Deletion - Frameshift Upper_aerodigestive_tract COSM5982506 KDM6A c.3649T>C p.L1217L Substitution - coding silent Upper_aerodigestive_tract COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM5880301 ATRX c.? p.R2197L Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Central_nervous_system COSM52784 PBRM1 c.1818+1G>A p.? Unknown Kidney COSM1716421 CTCF c.1702-3T>G p.? Unknown Endometrium COSM5639361 MECOM c.65G>A p.R22H Substitution - Missense Oesophagus COSM3729906 MBD4 c.939delA p.E314fs*4 Deletion - Frameshift Large_intestine COSM4839181 SIRT5 c.844A>G p.T282A Substitution - Missense Cervix COSM2037106 PHRF1 c.3634C>T p.R1212W Substitution - Missense Upper_aerodigestive_tract COSM3813516 ZMYM5 c.343G>A p.E115K Substitution - Missense Breast COSM5732388 CBX7 c.413C>T p.P138L Substitution - Missense Pancreas COSM5599297 CHD1 c.978C>T p.S326S Substitution - coding silent Skin COSM4440696 TBL1XR1 c.1256C>T p.S419F Substitution - Missense Skin COSM1666939 DNMT3A c.? p.A571S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3637020 HDAC9 c.1258C>T p.P420S Substitution - Missense Skin COSM36248 IDH1 c.? p.R132? Substitution - Missense Bone COSM1049133 BRPF1 c.1867C>T p.Q623* Substitution - Nonsense Endometrium COSM4933639 CHD2 c.1337G>C p.S446T Substitution - Missense Liver COSM86976 IKZF1 c.1-?_40+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4474306 SETD5_ENST00000402198 c.190C>T p.R64C Substitution - Missense Skin COSM3733522 NCOR1 c.59A>C p.Y20S Substitution - Missense Upper_aerodigestive_tract COSM337501 AP001011.3_ENST00000320876 c.677G>T p.R226L Substitution - Missense Lung COSM1324883 BPTF c.6856C>G p.Q2286E Substitution - Missense Ovary COSM4473743 KDM5A c.1870C>T p.P624S Substitution - Missense Skin COSM727028 EP300 c.4241A>G p.Y1414C Substitution - Missense Oesophagus COSM2265304 ZMYM2 c.3742_3743delAA p.N1250fs*22 Deletion - Frameshift Large_intestine COSM5749270 SMCHD1 c.2698G>C p.V900L Substitution - Missense Genital_tract COSM284544 RERE c.613C>T p.R205* Substitution - Nonsense Large_intestine COSM3547334 EYA2 c.653C>T p.S218L Substitution - Missense Skin COSM429983 EED c.619C>T p.L207L Substitution - coding silent Soft_tissue COSM3879500 KMT2C c.14243C>T p.A4748V Substitution - Missense Stomach COSM1093633 TRRAP c.5006C>T p.A1669V Substitution - Missense Endometrium COSM704903 NCOR1 c.1519C>A p.R507R Substitution - coding silent Lung COSM4590120 KDM4B c.2128A>G p.K710E Substitution - Missense Upper_aerodigestive_tract COSM693692 KMT2D c.8450G>T p.R2817L Substitution - Missense Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM95399 TRIM24 c.2119G>C p.D707H Substitution - Missense Ovary COSM2819157 PRDM15 c.371delG p.G124fs*32 Deletion - Frameshift Large_intestine COSM3450657 PHRF1 c.3663C>T p.A1221A Substitution - coding silent Skin COSM3999681 IDH2 c.518A>C p.H173P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1347489 ZMYND11 c.1355G>A p.R452H Substitution - Missense Large_intestine COSM249685 NCOR1 c.448G>A p.G150R Substitution - Missense Central_nervous_system COSM94804 NCOA2 c.3348G>T p.Q1116H Substitution - Missense Lung COSM5944955 DNMT3A c.1681G>A p.E561K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5348619 ARID2 c.3546_3547insT p.A1183fs*58 Insertion - Frameshift Liver COSM753650 TAF1L c.5356T>A p.F1786I Substitution - Missense Lung COSM3833577 TRRAP c.3507G>A p.E1169E Substitution - coding silent Breast COSM3411443 MLL5 c.17C>T p.P6L Substitution - Missense Central_nervous_system COSM1325884 MBD5 c.1145A>C p.H382P Substitution - Missense Ovary COSM5794637 TTF2 c.2592A>G p.S864S Substitution - coding silent Breast COSM1388982 MBD1 c.1020C>A p.A340A Substitution - coding silent Large_intestine COSM3424266 HDAC10 c.880G>A p.G294S Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM1168634 PRDM2 c.5010C>T p.S1670S Substitution - coding silent Biliary_tract COSM1406986 ING5 c.553G>A p.E185K Substitution - Missense Large_intestine COSM5628770 CREBBP c.3986T>C p.L1329P Substitution - Missense Oesophagus COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM987374 AP001011.3_ENST00000320876 c.588C>A p.N196K Substitution - Missense Endometrium COSM3735028 SMARCA4 c.2915T>C p.L972P Substitution - Missense Ovary COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM730685 SMARCC1 c.1165+1G>T p.? Unknown Lung COSM4671992 CHD4 c.4673C>T p.P1558L Substitution - Missense Large_intestine COSM4093209 NCOA1 c.1326A>C p.G442G Substitution - coding silent Stomach COSM4383114 MECOM c.1865C>A p.A622D Substitution - Missense Large_intestine COSM1100901 CHD7 c.7738C>T p.L2580L Substitution - coding silent Endometrium COSM129889 TIF1 c.2927T>G p.F976C Substitution - Missense Upper_aerodigestive_tract COSM919487 JMJD1C c.3229G>A p.G1077R Substitution - Missense Endometrium COSM3671086 KMT2D c.8093C>A p.P2698Q Substitution - Missense Prostate COSM3461543 KMT2D c.10471C>T p.P3491S Substitution - Missense Skin COSM4914830 PHRF1 c.336C>A p.L112L Substitution - coding silent Liver COSM3185395 CAMKMT c.941C>T p.P314L Substitution - Missense Oesophagus COSM750340 MYST3 c.1953T>G p.P651P Substitution - coding silent Lung COSM4825522 MUM1 c.887G>A p.G296E Substitution - Missense Cervix COSM5720544 HDGFL1 c.682G>A p.E228K Substitution - Missense Skin COSM5924641 MGA c.2245G>A p.G749R Substitution - Missense Skin COSM1583153 DNMT3A c.? p.?fs Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5816906 GABRG1 c.105-2A>G p.? Unknown Liver COSM4390187 SETDB1 c.729G>A p.S243S Substitution - coding silent Urinary_tract COSM119883 BAZ1A c.1325T>C p.F442S Substitution - Missense Ovary COSM5347125 ARID1A c.3988C>T p.Q1330* Substitution - Nonsense Endometrium COSM5709646 DUSP1 c.371G>A p.G124E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1443747 RING1 c.511delG p.E173fs*14 Deletion - Frameshift Large_intestine COSM478241 ZMYND8 c.1349C>T p.P450L Substitution - Missense Kidney COSM1028984 DIDO1 c.2480C>T p.A827V Substitution - Missense Endometrium COSM4749935 SMARCA4 c.2428G>A p.V810M Substitution - Missense Stomach COSM5635821 ATAD2 c.3754C>G p.L1252V Substitution - Missense Oesophagus COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3924315 TRRAP c.6246C>T p.F2082F Substitution - coding silent Skin COSM3738727 KAT6B c.1783A>C p.S595R Substitution - Missense Liver COSM465983 KAT6B c.5771C>G p.S1924C Substitution - Missense Kidney COSM4584095 MECOM c.1788T>C p.S596S Substitution - coding silent Bone COSM5687950 SETD5_ENST00000402198 c.3208G>T p.E1070* Substitution - Nonsense Soft_tissue COSM39367 CHD5 c.5199C>T p.Y1733Y Substitution - coding silent Central_nervous_system COSM1660128 PBRM1 c.813+1G>A p.? Unknown Kidney COSM5571773 HDAC5 c.2029G>A p.V677I Substitution - Missense Prostate COSM3907697 KDM4C c.2942A>T p.E981V Substitution - Missense Stomach COSM1719038 HDAC7 c.413C>T p.P138L Substitution - Missense Skin COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4886380 CREBBP c.5693G>T p.S1898I Substitution - Missense Upper_aerodigestive_tract COSM1659209 BRD4 c.1682A>G p.K561R Substitution - Missense Kidney COSM1245838 ATXN7 c.1722C>T p.S574S Substitution - coding silent Oesophagus COSM1432777 LMNB1 c.1041G>A p.A347A Substitution - coding silent Large_intestine COSM1621431 BAG6 c.1007A>T p.D336V Substitution - Missense Liver COSM4717512 PRDM5 c.386A>G p.E129G Substitution - Missense Large_intestine COSM21288 BRD3 c.71delC p.P24fs*24 Deletion - Frameshift Large_intestine COSM5347095 ARID1A c.2059C>T p.P687S Substitution - Missense Endometrium COSM465483 SUV39H2 c.714C>A p.D238E Substitution - Missense Kidney COSM5029474 APOBEC1 c.657G>A p.P219P Substitution - coding silent Bone COSM1493126 ZMYM2 c.1046G>A p.G349E Substitution - Missense Kidney COSM1308229 TCF20 c.1695G>A p.Q565Q Substitution - coding silent Urinary_tract COSM4585000 WHSC1 c.1229A>T p.E410V Substitution - Missense Bone COSM2139529 ALKBH1 c.799G>A p.A267T Substitution - Missense Large_intestine COSM5947360 EZH2 c.625+10A>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3842767 L3MBTL2 c.555G>A p.L185L Substitution - coding silent Breast COSM1445553 PHF3 c.3591T>C p.V1197V Substitution - coding silent Large_intestine COSM4023062 ASH1L c.2498C>G p.S833C Substitution - Missense Stomach COSM5919503 CHD7 c.6080G>A p.R2027Q Substitution - Missense Skin COSM1684836 SETBP1 c.? p.D908N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1686772 LMNB2 c.1651-1G>C p.? Unknown Skin COSM5767608 SRCAP c.3316C>T p.L1106L Substitution - coding silent Breast COSM4417122 PHF2 c.789+6C>T p.? Unknown Oesophagus COSM4162000 KMT2C c.2706G>A p.S902S Substitution - coding silent Upper_aerodigestive_tract COSM5353077 SETDB1 c.3569G>A p.S1190N Substitution - Missense Large_intestine COSM222991 NIPBL c.4307A>G p.K1436R Substitution - Missense Skin COSM4820447 ATRX c.6800C>A p.T2267N Substitution - Missense Cervix COSM4985024 LMNA c.1338T>C p.D446D Substitution - coding silent Soft_tissue COSM1604854 PHRF1 c.3594G>T p.R1198S Substitution - Missense Liver COSM5033244 MECOM c.2041-3C>T p.? Unknown Oesophagus COSM5105280 SETD5_ENST00000402198 c.2698C>T p.R900C Substitution - Missense Large_intestine COSM1751705 PRMT2 c.1150C>T p.H384Y Substitution - Missense Urinary_tract COSM3627962 TDRD6 c.4461T>A p.L1487L Substitution - coding silent Skin COSM2801205 PHF12 c.844C>T p.R282C Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1071549 CHD1 c.3189A>G p.E1063E Substitution - coding silent Endometrium COSM5585044 DOT1L c.3029C>T p.P1010L Substitution - Missense Skin COSM4411436 BAP1 c.1231_1232insGA p.N411fs*20 Insertion - Frameshift Kidney COSM1620694 CHD1 c.4138A>T p.R1380* Substitution - Nonsense Liver COSM305419 SETD2 c.5462C>T p.A1821V Substitution - Missense Soft_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM362763 GTF3C1 c.3662A>G p.K1221R Substitution - Missense Lung COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3735008 EZH2 c.? p.Y523P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3921401 EHMT2 c.2674C>T p.P892S Substitution - Missense Skin COSM1601636 SMYD2 c.1143G>A p.V381V Substitution - coding silent Liver COSM5967113 JMJD1C c.97A>G p.K33E Substitution - Missense Pituitary COSM1607437 MTA1 c.133T>C p.F45L Substitution - Missense Liver COSM216839 TAF1L c.1873C>G p.H625D Substitution - Missense Pancreas COSM2229090 EP400 c.3051C>T p.N1017N Substitution - coding silent Large_intestine COSM4671972 CHD2 c.3205A>G p.M1069V Substitution - Missense Large_intestine COSM1420537 PHC3 c.1779_1781delACC p.P594delP Deletion - In frame Large_intestine COSM4659088 ACTA1 c.248A>G p.D83G Substitution - Missense Large_intestine COSM3824895 TET2 c.4045-1G>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3747319 PHF6 c.313T>C p.Y105H Substitution - Missense Breast COSM1351665 KMT2A c.10067C>T p.A3356V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1684721 SETBP1 c.? p.T873R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1123271 PHF8 c.1897A>G p.I633V Substitution - Missense Endometrium COSM4765132 ASXL3 c.1739_1740insA p.V583fs*13 Insertion - Frameshift Stomach COSM5809471 ARID2 c.1121-2A>G p.? Unknown Liver COSM4115466 WHSC1 c.3532A>G p.N1178D Substitution - Missense Oesophagus COSM52803 PBRM1 c.384+3A>T p.? Unknown Kidney COSM5356601 KDM3B c.1124G>A p.G375D Substitution - Missense Large_intestine COSM3378484 ASXL3 c.2682C>T p.N894N Substitution - coding silent Pancreas COSM5801005 KMT2C c.4523_4524insA p.L1509fs*3 Insertion - Frameshift Breast COSM4834154 KMT2C c.3923C>G p.S1308* Substitution - Nonsense Cervix COSM3857084 PRDM13 c.1988G>A p.G663D Substitution - Missense Stomach COSM681103 HDAC1 c.917G>T p.R306L Substitution - Missense Lung COSM591881 PRDM9 c.1389G>A p.L463L Substitution - coding silent Endometrium COSM3373578 PRDM8 c.281C>T p.S94L Substitution - Missense Thyroid COSM1492079 DMAP1 c.937C>A p.P313T Substitution - Missense Kidney COSM52838 PBRM1 c.3553C>T p.R1185* Substitution - Nonsense Kidney COSM1245459 ARID2 c.3370C>T p.Q1124* Substitution - Nonsense Oesophagus COSM5945053 TET2 c.3956A>T p.E1319V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5708958 TET2 c.1622T>C p.L541P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2067824 ARID2 c.2014C>T p.Q672* Substitution - Nonsense Biliary_tract COSM5463799 KIAA2026_ENST00000399933 c.1340C>T p.A447V Substitution - Missense Large_intestine COSM4445260 DAXX c.292_293delCT p.L98fs*13 Deletion - Frameshift Adrenal_gland COSM1583089 DNMT3A c.1896_1896delG p.K632fs*19 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1226923 SMYD5 c.108G>T p.Q36H Substitution - Missense Large_intestine COSM4952066 EP400 c.8812G>C p.V2938L Substitution - Missense Liver COSM5352335 TET2 c.? p.S609C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2866680 TRRAP c.5956C>T p.R1986W Substitution - Missense Stomach COSM5561951 CREBBP c.7149C>T p.P2383P Substitution - coding silent Prostate COSM1612839 SUV420H2 c.129G>T p.R43R Substitution - coding silent Liver COSM1183570 ARID2 c.1330G>T p.D444Y Substitution - Missense Liver COSM4447924 BAHCC1 c.2081G>A p.G694D Substitution - Missense Skin COSM4072480 CXXC1 c.40G>A p.G14R Substitution - Missense Stomach COSM5826522 PHF2 c.2955_2956ins15 p.T996_S997insTPAST Insertion - In frame Large_intestine COSM2738956 NCOR1 c.5867A>T p.D1956V Substitution - Missense Large_intestine COSM82169 HCFC2 c.609T>C p.S203S Substitution - coding silent Ovary COSM1651693 BAP1 c.660_783del124 p.? Unknown Eye COSM5038070 ASH1L c.6520G>A p.V2174I Substitution - Missense Skin COSM4759064 PHF2 c.1186G>A p.V396I Substitution - Missense Stomach COSM315459 SMYD5 c.233G>A p.C78Y Substitution - Missense Bone COSM5798864 KMT2C c.7788G>T p.R2596R Substitution - coding silent Breast COSM27532 MSH6 c.? p.R58S Substitution - Missense Central_nervous_system COSM1087605 KMT2C c.4814A>T p.N1605I Substitution - Missense Endometrium COSM5580289 ASXL3 c.406C>T p.P136S Substitution - Missense Skin COSM1449033 EZH2 c.451A>C p.K151Q Substitution - Missense Large_intestine COSM1025714 ASXL1 c.103C>A p.L35M Substitution - Missense Endometrium COSM4749932 SMARCA4 c.1199C>T p.A400V Substitution - Missense Stomach COSM3708347 DNMT3A c.2077A>T p.K693* Substitution - Nonsense Liver COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM110805 BAP1 c.2095_2096delCG p.R699fs*17 Deletion - Frameshift Pleura COSM5347004 ARID1A c.1820C>A p.S607* Substitution - Nonsense Endometrium COSM3973914 ATRX c.4809+2T>G p.? Unknown Central_nervous_system COSM4508253 TIF1 c.769C>T p.Q257* Substitution - Nonsense Skin COSM708778 CBX8 c.899T>C p.L300P Substitution - Missense Lung COSM5687573 MBD2 c.258G>C p.R86R Substitution - coding silent Soft_tissue COSM1205423 EPC1 c.281T>G p.F94C Substitution - Missense Large_intestine COSM720786 NCOA1 c.3751C>A p.P1251T Substitution - Missense Lung COSM4077670 DPF1 c.819C>A p.T273T Substitution - coding silent Stomach COSM3842814 TCF20 c.1826C>G p.S609C Substitution - Missense Breast COSM5613418 GLYATL1 c.592C>A p.P198T Substitution - Missense Lung COSM4849366 CREBBP c.3779+1G>A p.? Unknown Cervix COSM255147 MEN1 c.? p.S512* Substitution - Nonsense Parathyroid COSM3733336 KMT2C c.2263C>T p.Q755* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4854369 TTF2 c.2723C>G p.S908* Substitution - Nonsense Cervix COSM78697 TRIM33 c.1807C>T p.P603S Substitution - Missense Ovary COSM1106292 GTF3C4 c.522C>T p.C174C Substitution - coding silent Large_intestine COSM4049845 CHD8 c.5666G>A p.R1889H Substitution - Missense Stomach COSM468684 BAZ2A c.863A>G p.Y288C Substitution - Missense Kidney COSM4913836 SFMBT2 c.493T>A p.S165T Substitution - Missense Liver COSM4004938 EP300 c.6762T>G p.G2254G Substitution - coding silent Urinary_tract COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4922121 HDAC10 c.1388T>C p.L463P Substitution - Missense Liver COSM360231 NCOA7 c.2574T>C p.Y858Y Substitution - coding silent Lung COSM1235382 BAP1 c.1717_1717delC p.L573fs*3 Deletion - Frameshift Eye COSM1266316 SMYD1 c.1271T>C p.L424P Substitution - Missense Oesophagus COSM3203561 MECOM c.2180G>A p.R727Q Substitution - Missense Prostate COSM5986772 SMARCA4 c.563A>T p.K188M Substitution - Missense Salivary_gland COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM292606 SMARCC1 c.2860G>A p.A954T Substitution - Missense Large_intestine COSM4914612 PHRF1 c.4873A>G p.K1625E Substitution - Missense Liver COSM5719013 BAHCC1 c.2378C>T p.P793L Substitution - Missense Skin COSM4954343 PRDM2 c.143A>C p.K48T Substitution - Missense Liver COSM4383885 TET2 c.3139delA p.T1047fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1739175 NIPBL c.2T>A p.M1K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4169524 TET2 c.? p.L1332F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4729941 SRCAP c.6226G>T p.E2076* Substitution - Nonsense Large_intestine COSM3528101 DNMT1 c.3318T>C p.P1106P Substitution - coding silent Skin COSM1963647 MGA c.6858G>A p.L2286L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5365605 DOT1L c.4984G>A p.A1662T Substitution - Missense Large_intestine COSM372159 INOC1 c.2818C>T p.H940Y Substitution - Missense Lung COSM4949919 SETD1A c.719G>A p.G240D Substitution - Missense Liver COSM452728 KMT2C c.2379G>A p.S793S Substitution - coding silent Central_nervous_system COSM3814982 ARID4A c.1353C>T p.I451I Substitution - coding silent Breast COSM4445219 CHD7 c.3098G>T p.R1033M Substitution - Missense Large_intestine COSM984420 ZBTB4 c.1558C>T p.R520* Substitution - Nonsense Endometrium COSM3473726 TDRKH c.70C>T p.P24S Substitution - Missense Skin COSM723661 CHD6 c.6861G>T p.R2287R Substitution - coding silent Lung COSM4963349 FMR1 c.1684C>T p.R562C Substitution - Missense Pancreas COSM1026881 CHD6 c.973T>G p.F325V Substitution - Missense Endometrium COSM909544 SCMH1 c.1286C>T p.T429I Substitution - Missense Endometrium COSM1602221 PRDM16 c.974T>C p.I325T Substitution - Missense Liver COSM4097605 DNMT3B c.1726C>T p.R576* Substitution - Nonsense Stomach COSM5574233 TET2 c.920T>G p.L307R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1513902 RNF17 c.486C>T p.F162F Substitution - coding silent Skin COSM1025733 ASXL1 c.3682G>T p.E1228* Substitution - Nonsense Endometrium COSM1354804 PHRF1 c.158G>T p.G53V Substitution - Missense Large_intestine COSM1978060 PRDM10 c.201G>A p.T67T Substitution - coding silent Large_intestine COSM5447049 CHD4 c.3071T>G p.L1024R Substitution - Missense Large_intestine COSM1560993 PCGF6 c.83_84insGCCTCC p.P28_V29insPP Insertion - In frame Large_intestine COSM5016556 NCOR1 c.436-2delA p.? Unknown Kidney COSM1692493 ZCWPW2 c.56C>T p.S19F Substitution - Missense Skin COSM3525424 ASXL3 c.724G>A p.D242N Substitution - Missense Skin COSM335156 MBD5 c.842A>G p.H281R Substitution - Missense Lung COSM69525 ACTR6 c.809T>G p.L270W Substitution - Missense Ovary COSM94801 KAT6B c.3416G>C p.R1139T Substitution - Missense Lung COSM4694879 KDM2B c.2919delA p.K973fs*2 Deletion - Frameshift Large_intestine COSM5708588 TBL1XR1 c.869C>G p.T290R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM360006 PRDM9 c.936G>T p.W312C Substitution - Missense Lung COSM1737873 SMARCA4 c.3277C>T p.R1093* Substitution - Nonsense Ovary COSM158733 SUZ12 c.488G>A p.G163D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5521318 MSH6 c.3978G>A p.M1326I Substitution - Missense Biliary_tract COSM4506682 PHF23 c.726C>T p.P242P Substitution - coding silent Skin COSM4426909 CBX8 c.111G>A p.Q37Q Substitution - coding silent Oesophagus COSM1107183 EHMT1 c.2759G>A p.R920H Substitution - Missense Endometrium COSM3473724 TDRKH c.168G>A p.E56E Substitution - coding silent Skin COSM5033442 TAF1L c.1995G>A p.K665K Substitution - coding silent Oesophagus COSM5581518 L3MBTL4 c.24G>A p.R8R Substitution - coding silent Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2269484 BAHD1 c.1738C>T p.P580S Substitution - Missense Skin COSM5600455 SETD2 c.3866G>A p.S1289N Substitution - Missense Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5918185 PHC3 c.727C>T p.P243S Substitution - Missense Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2006671 KMT2D c.14278C>T p.R4760C Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM971266 BRD7 c.830_831delAG p.E277fs*18 Deletion - Frameshift Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3967484 RAG2 c.1473C>T p.P491P Substitution - coding silent Central_nervous_system COSM3873107 RING1 c.119G>A p.R40Q Substitution - Missense Stomach COSM1602151 ARID1A c.4681G>C p.V1561L Substitution - Missense Liver COSM21745 SMARCC2 c.1840G>A p.E614K Substitution - Missense Skin COSM5607840 ARID1A c.1675C>T p.P559S Substitution - Missense Skin COSM1495631 ACTR8 c.441T>G p.I147M Substitution - Missense Kidney COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4554394 CDYL2 c.61G>A p.G21R Substitution - Missense Skin COSM321081 JMJD1C c.4471C>G p.Q1491E Substitution - Missense Lung COSM3996490 SMARCA2 c.3351C>T p.S1117S Substitution - coding silent Kidney COSM88766 CREBBP c.1334_1335insCCAT p.L446fs*7 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4954669 TRRAP c.10914G>A p.T3638T Substitution - coding silent Liver COSM3717206 SMYD4 c.34C>G p.L12V Substitution - Missense Liver COSM2182760 SETDB1 c.2844delC p.P950fs*16 Deletion - Frameshift Large_intestine COSM730423 KAT2B c.275A>G p.E92G Substitution - Missense Lung COSM1074199 SHPRH c.2286G>A p.L762L Substitution - coding silent Endometrium COSM367800 ZBTB33 c.1231G>T p.E411* Substitution - Nonsense Lung COSM391248 CHD2 c.3724_3725insA p.Y1246fs*13 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5697273 HDAC9 c.418G>A p.A140T Substitution - Missense Soft_tissue COSM133032 IKZF1 c.161-?_715+?del555 p.? Unknown Haematopoietic_and_lymphoid_tissue COSM149089 SP110 c.383C>T p.A128V Substitution - Missense Soft_tissue COSM1189108 CHD2 c.4203G>T p.K1401N Substitution - Missense Lung COSM1617862 BAP1 c.1508delT p.F503fs*68 Deletion - Frameshift Liver COSM1716598 TET2 c.4879C>T p.Q1627* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4562248 TDRD6 c.918G>A p.R306R Substitution - coding silent Skin COSM3826306 PRDM8 c.556G>A p.D186N Substitution - Missense Breast COSM3921595 BRPF3 c.2882C>G p.A961G Substitution - Missense Skin COSM4129212 CTCF c.40G>A p.E14K Substitution - Missense Thyroid COSM5767885 CHD4 c.3796G>A p.E1266K Substitution - Missense Breast COSM32396 PHIP c.1405G>A p.V469I Substitution - Missense Large_intestine COSM26978 TP53BP1 c.4661G>A p.S1554N Substitution - Missense Kidney COSM22585 MEN1 c.1102_1108delGCCAATG p.A368fs*7 Deletion - Frameshift Small_intestine COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM23403 MEN1 c.51delC p.D17fs*102 Deletion - Frameshift Soft_tissue COSM23014 MEN1 c.1657delT p.F553fs*6 Deletion - Frameshift Parathyroid COSM1091 SMARCB1 c.1119-38insA p.? Unknown Haematopoietic_and_lymphoid_tissue COSM84862 TET2 c.459T>G p.S153S Substitution - coding silent Pancreas COSM53274 TET2 c.5041_5048delCCAAGGTT p.P1681fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM85841 MEN1 c.156_156delC p.V53fs*66 Deletion - Frameshift Pancreas COSM50725 EPC2 c.810G>C p.E270D Substitution - Missense Breast COSM70612 EP400 c.5813A>C p.H1938P Substitution - Missense Prostate COSM107398 SETD1A c.929C>T p.S310F Substitution - Missense Skin COSM94191 EP300 c.1936G>C p.E646Q Substitution - Missense Breast COSM87277 EZH2 c.2081A>G p.H694R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM87112 TET2 c.2896C>T p.Q966* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM218549 SMCHD1 c.2710A>G p.K904E Substitution - Missense Pancreas COSM254813 KMT2A c.3173C>G p.S1058* Substitution - Nonsense Urinary_tract COSM254833 MYST1 c.419G>A p.R140H Substitution - Missense Urinary_tract COSM255878 SMARCA4 c.3694G>T p.G1232C Substitution - Missense Kidney COSM314464 PRMT7 c.1144A>C p.I382L Substitution - Missense Soft_tissue COSM307750 PBRM1 c.3123+1G>A p.? Unknown Skin COSM328672 AKAP1 c.488A>T p.E163V Substitution - Missense Liver COSM362597 KMT2C c.2507C>G p.S836C Substitution - Missense Lung COSM363042 SRCAP c.3019C>T p.R1007W Substitution - Missense Large_intestine COSM356742 EP400 c.5248C>T p.R1750C Substitution - Missense Lung COSM403876 TAF1L c.3113A>C p.K1038T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM401773 SETBP1 c.1200C>A p.V400V Substitution - coding silent Lung COSM415871 KDM5A c.3697C>T p.L1233F Substitution - Missense Urinary_tract COSM457988 TAF1 c.2411G>A p.R804Q Substitution - Missense Breast COSM458086 ATRX c.687G>A p.L229L Substitution - coding silent Breast COSM979871 HDAC5 c.1181C>T p.S394L Substitution - Missense Endometrium COSM483610 ARID1B c.4056G>C p.P1352P Substitution - coding silent Kidney COSM480184 SETD2 c.119C>A p.S40* Substitution - Nonsense Kidney COSM480356 PBRM1 c.2536G>T p.E846* Substitution - Nonsense Kidney COSM956530 ARID4A c.1938+1G>T p.? Unknown Endometrium COSM940092 KMT2D c.1396C>T p.R466C Substitution - Missense Biliary_tract COSM1027979 ADNP c.528_529delTT p.Y177fs*1 Deletion - Frameshift Endometrium COSM1026871 CHD6 c.3373C>A p.L1125M Substitution - Missense Endometrium COSM746386 STK31 c.726G>T p.L242F Substitution - Missense Lung COSM755439 SMARCA1 c.639G>T p.G213G Substitution - coding silent Lung COSM920201 SFMBT2 c.348G>A p.R116R Substitution - coding silent Endometrium COSM753012 EHMT1 c.2656G>T p.G886C Substitution - Missense Skin COSM920522 KAT6B c.1541_1543delCTT p.S516delS Deletion - In frame Endometrium COSM729840 TBL1XR1 c.1531G>C p.D511H Substitution - Missense Lung COSM911672 PHF13 c.306G>T p.K102N Substitution - Missense Endometrium COSM913230 BRDT c.844G>T p.E282* Substitution - Nonsense Endometrium COSM1012895 DNMT3A c.2704_2706delTTC p.F902del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM1107784 SMARCA2 c.3560C>T p.A1187V Substitution - Missense Endometrium COSM1128297 CHD8 c.3642T>C p.L1214L Substitution - coding silent Prostate COSM1132198 NSD1 c.1471G>A p.E491K Substitution - Missense Prostate COSM1168031 TET2 c.762_765delTCAG p.S254fs*38 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1180961 ATXN7 c.2334delC p.T781fs*11 Deletion - Frameshift Large_intestine COSM1197041 ORC1 c.934C>T p.P312S Substitution - Missense Lung COSM1184216 ATRX c.5601G>T p.K1867N Substitution - Missense Large_intestine COSM1264944 SCMH1 c.125G>A p.R42H Substitution - Missense Oesophagus COSM1265549 SHPRH c.3598C>A p.Q1200K Substitution - Missense Oesophagus COSM1212053 KIAA1045 c.100A>G p.I34V Substitution - Missense Large_intestine COSM1189880 CARM1 c.701G>C p.R234P Substitution - Missense Lung COSM1324497 SRCAP c.5633C>G p.P1878R Substitution - Missense Ovary COSM1425901 MINA c.1235_1236delAG p.E412fs*20 Deletion - Frameshift Large_intestine COSM1411730 ACTR5 c.1134G>A p.A378A Substitution - coding silent Pancreas COSM1357983 KDM4D c.771T>G p.N257K Substitution - Missense Large_intestine COSM1562151 KDM5A c.1902G>A p.M634I Substitution - Missense Large_intestine COSM1495564 SETD2 c.170C>A p.S57* Substitution - Nonsense Kidney COSM1587029 ZMYM2 c.1040G>A p.R347Q Substitution - Missense Endometrium COSM1675368 KAT6B c.4904C>T p.A1635V Substitution - Missense Large_intestine COSM1681965 BRWD1 c.1694G>A p.R565Q Substitution - Missense Large_intestine COSM1665538 KDM5C c.693_696delAGAG p.E232fs*1 Deletion - Frameshift Kidney COSM3724467 ARID1A c.2840_2841insC p.Y948fs*59 Insertion - Frameshift Large_intestine COSM1747775 GATAD2B c.1216G>A p.G406S Substitution - Missense Urinary_tract COSM2150774 HDAC9 c.2346C>A p.P782P Substitution - coding silent Central_nervous_system COSM2246093 ARID4A c.3229G>A p.D1077N Substitution - Missense Large_intestine COSM3300316 BAZ2B c.635G>A p.C212Y Substitution - Missense Large_intestine COSM3375957 RSF1 c.1084G>A p.E362K Substitution - Missense Pancreas COSM3380424 ZBTB38 c.205A>G p.I69V Substitution - Missense Pancreas COSM3479342 TDRD5 c.2700G>A p.V900V Substitution - coding silent Skin COSM3418048 TDRKH c.975C>T p.I325I Substitution - coding silent Skin COSM3547372 NCOA3 c.691C>T p.Q231* Substitution - Nonsense Skin COSM3563104 ZMYM3 c.3039C>T p.F1013F Substitution - coding silent Skin COSM3518951 MYST2 c.1067C>T p.P356L Substitution - Missense Skin COSM3525852 SETBP1 c.1647C>T p.A549A Substitution - coding silent Skin COSM3662942 TRIM24 c.1995G>A p.V665V Substitution - coding silent Liver COSM3656831 TAF1L c.5195C>T p.P1732L Substitution - Missense Skin COSM3688337 SMARCC2 c.3606G>A p.P1202P Substitution - coding silent Large_intestine COSM3703040 PHF3 c.1220C>A p.S407Y Substitution - Missense Liver COSM3717551 BPTF c.5291G>A p.G1764D Substitution - Missense Liver COSM3722551 KMT2D c.6669G>T p.G2223G Substitution - coding silent Soft_tissue COSM3756109 AP001011.3_ENST00000320876 c.2637A>T p.K879N Substitution - Missense Large_intestine COSM3781030 SMARCC2 c.1986A>C p.Q662H Substitution - Missense Pancreas COSM3807466 JMJD1C c.3850G>A p.E1284K Substitution - Missense Breast COSM3818885 NCOR1 c.5618T>G p.V1873G Substitution - Missense Breast COSM3789220 RNF2 c.50G>A p.W17* Substitution - Nonsense Urinary_tract COSM3859865 JARID2 c.3591C>T p.C1197C Substitution - coding silent Stomach COSM3825183 PHF17 c.128A>C p.K43T Substitution - Missense Breast COSM3926349 GTF3C4 c.1167C>T p.S389S Substitution - coding silent Skin COSM3920525 PRDM13 c.247G>A p.E83K Substitution - Missense Skin COSM3959316 L3MBTL4 c.1820C>T p.S607F Substitution - Missense Lung COSM3959787 DOT1L c.1840C>G p.L614V Substitution - Missense Lung COSM3985248 RERE c.1711A>T p.S571C Substitution - Missense Kidney COSM4111134 ATRX c.6326G>T p.R2109I Substitution - Missense Stomach COSM4152498 PBRM1 c.1863A>T p.K621N Substitution - Missense Kidney COSM4405473 RNF17 c.1361G>A p.R454K Substitution - Missense Skin COSM4605676 NSD1 c.6050G>T p.R2017L Substitution - Missense Upper_aerodigestive_tract COSM4603870 SETBP1 c.4001-8delT p.? Unknown Upper_aerodigestive_tract COSM4602848 BPTF c.8028_8029insCCTCCAGCC p.P2684_P2685insAPP Insertion - In frame Upper_aerodigestive_tract COSM4531793 SUZ12 c.1825G>A p.G609R Substitution - Missense Skin COSM4500235 ARID1A c.5605C>T p.R1869W Substitution - Missense Skin COSM4590278 KDM2A c.310A>G p.S104G Substitution - Missense Upper_aerodigestive_tract COSM4454623 TDRD6 c.5411A>C p.K1804T Substitution - Missense Skin COSM4717864 PRMT1 c.844G>A p.E282K Substitution - Missense Large_intestine COSM4725139 SETD1A c.1499G>A p.R500H Substitution - Missense Large_intestine COSM4742389 ZCWPW1 c.1577G>T p.R526I Substitution - Missense Large_intestine COSM4636594 HDAC7 c.79C>T p.R27C Substitution - Missense Large_intestine COSM4631179 TRIM24 c.2610C>T p.C870C Substitution - coding silent Large_intestine COSM4651955 GATAD2B c.1604A>G p.Q535R Substitution - Missense Large_intestine COSM4611394 KMT2D c.6783_6784insC p.S2262fs*123 Insertion - Frameshift Large_intestine COSM4625231 SETD7 c.1028G>A p.G343E Substitution - Missense Large_intestine COSM4608216 SETDB1 c.307C>A p.L103M Substitution - Missense Adrenal_gland COSM4759352 TDRD7 c.1733A>C p.K578T Substitution - Missense Stomach COSM4751994 ATAT1 c.584-1G>T p.? Unknown Stomach COSM4804661 DHX30 c.1717A>G p.I573V Substitution - Missense Liver COSM4884260 KAT6B c.730G>T p.G244* Substitution - Nonsense Upper_aerodigestive_tract COSM4884873 ARID2 c.2488C>T p.Q830* Substitution - Nonsense Upper_aerodigestive_tract COSM4914192 SETDB2 c.814A>G p.R272G Substitution - Missense Liver COSM4900180 HCFC1 c.3937C>T p.P1313S Substitution - Missense Skin COSM4916450 BAHCC1 c.7021G>A p.D2341N Substitution - Missense Liver COSM4833281 BAZ1B c.2455G>C p.D819H Substitution - Missense Cervix COSM4951716 SCML2 c.430T>G p.F144V Substitution - Missense Liver COSM4949635 ARID1A c.31_56del26 p.S11fs*91 Deletion - Frameshift Salivary_gland COSM4952317 SMARCB1 c.276A>C p.K92N Substitution - Missense Liver COSM4954414 KMT2A c.3235C>T p.L1079F Substitution - Missense Liver COSM4990892 CREBBP c.931C>T p.P311S Substitution - Missense Skin COSM5015132 MBD6 c.2066C>T p.S689L Substitution - Missense Kidney COSM5038016 ACTR8 c.1850G>C p.R617P Substitution - Missense Skin COSM5042894 MGA c.7913C>T p.T2638I Substitution - Missense Liver COSM5042976 GTF3C1 c.1987G>A p.V663M Substitution - Missense Liver COSM5351725 DNMT3A c.1420C>A p.R474S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5366928 ZMYM3 c.3385C>T p.R1129* Substitution - Nonsense Large_intestine COSM5369433 BAZ2B c.3986C>G p.T1329S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5490586 KMT2A c.11480C>G p.S3827C Substitution - Missense Biliary_tract COSM5500931 PRDM5 c.664A>G p.T222A Substitution - Missense Biliary_tract COSM5430711 ARID1A c.4583G>A p.R1528Q Substitution - Missense Oesophagus COSM5625470 PYGO1 c.269A>G p.Y90C Substitution - Missense Oesophagus COSM5720825 ARID1B c.2861C>T p.P954L Substitution - Missense Skin COSM5696636 PRDM13 c.76C>T p.P26S Substitution - Missense Soft_tissue COSM5713878 WHSC1 c.2773T>C p.S925P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5676962 KDM6A c.999G>A p.Q333Q Substitution - coding silent Soft_tissue COSM5708584 TBL1XR1 c.931G>C p.A311P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5567402 CHD1 c.38G>C p.S13T Substitution - Missense Prostate COSM5779885 UHRF1 c.1720-8C>G p.? Unknown Breast COSM5835688 EHMT1 c.3713_3714insA p.L1239fs*>30 Insertion - Frameshift Breast COSM5944623 KMT2D c.13335_13336insG p.E4447fs*65 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5892733 KDM3A c.601G>A p.D201N Substitution - Missense Skin COSM5892924 SMARCC1 c.2989C>T p.P997S Substitution - Missense Skin COSM5922830 KAT6B c.1549C>T p.P517S Substitution - Missense Skin COSM5978570 SETD5_ENST00000402198 c.4039C>A p.P1347T Substitution - Missense Upper_aerodigestive_tract COSM6017982 DIDO1 c.3239T>A p.F1080Y Substitution - Missense Skin COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6005461 KMT2D c.? p.Q3229* Substitution - Nonsense Breast COSM144562 DNMT3A c.? p.A644T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1666676 SETBP1 c.? p.I871T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1685366 ASXL1 c.? p.G643fs*13 Frameshift Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM708188 SMCHD1 c.281G>A p.G94E Substitution - Missense Lung COSM301319 SUZ12 c.301C>T p.R101* Substitution - Nonsense Large_intestine COSM5063847 SMARCA2 c.2253G>T p.M751I Substitution - Missense Stomach COSM4293948 DIDO1 c.4924A>C p.T1642P Substitution - Missense Upper_aerodigestive_tract COSM5612096 CHD7 c.2461G>T p.V821L Substitution - Missense Adrenal_gland COSM254834 NCOA7 c.1322C>G p.S441C Substitution - Missense Urinary_tract COSM1056 SMARCB1 c.252_253insA p.L84fs*21 Insertion - Frameshift Central_nervous_system COSM3421306 NCOR1 c.5572G>T p.A1858S Substitution - Missense Large_intestine COSM6012386 PHIP c.2201G>A p.S734N Substitution - Missense Skin COSM4031006 ARID1A c.2308G>A p.A770T Substitution - Missense Stomach COSM3776667 NIPBL c.4729G>A p.E1577K Substitution - Missense Urinary_tract COSM3664049 PHF19 c.196T>G p.S66A Substitution - Missense Liver COSM1666830 CBX5 c.136G>A p.E46K Substitution - Missense Eye COSM940058 KMT2D c.4942C>T p.R1648C Substitution - Missense Endometrium COSM1299801 CHD4 c.1923G>C p.L641F Substitution - Missense Urinary_tract COSM1663890 RERE c.30C>G p.D10E Substitution - Missense Kidney COSM5680278 PRDM2 c.4950C>A p.T1650T Substitution - coding silent Soft_tissue COSM4092273 SP100 c.566C>T p.S189L Substitution - Missense Stomach COSM3514787 RAI1 c.5580C>A p.C1860* Substitution - Nonsense Skin COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Upper_aerodigestive_tract COSM3991635 DNMT3B c.2082G>C p.W694C Substitution - Missense Kidney COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Biliary_tract COSM108753 BPTF c.3159G>A p.K1053K Substitution - coding silent Skin COSM3974647 TET2 c.67C>T p.P23S Substitution - Missense Central_nervous_system COSM4151315 SETD1A c.1607A>G p.H536R Substitution - Missense Kidney COSM1610922 KDM6B c.723C>T p.P241P Substitution - coding silent Liver COSM3642747 TRRAP c.1480C>T p.P494S Substitution - Missense Skin COSM5005801 CREBBP c.3723C>T p.F1241F Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3151627 CBX6 c.558C>T p.G186G Substitution - coding silent Soft_tissue COSM5973684 HDAC4 c.1659G>A p.Q553Q Substitution - coding silent Upper_aerodigestive_tract COSM5878501 ARID2 c.1265T>C p.L422P Substitution - Missense Liver COSM1681999 PRDM15 c.1525A>G p.T509A Substitution - Missense Breast COSM4986678 SP110 c.1737G>A p.M579I Substitution - Missense Breast COSM249685 NCOR1 c.448G>A p.G150R Substitution - Missense Upper_aerodigestive_tract COSM452746 KMT2C c.401G>A p.C134Y Substitution - Missense Breast COSM1722309 MYST3 c.5079A>C p.P1693P Substitution - coding silent Central_nervous_system COSM87141 TET2 c.3954+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41292 IDH1 c.? p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4584664 BRPF1 c.1830G>A p.K610K Substitution - coding silent Bone COSM3733792 CTCF c.1543C>T p.R515C Substitution - Missense Pancreas COSM257804 PRDM9 c.1011G>A p.R337R Substitution - coding silent Large_intestine COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM167572 TAF1L c.3572G>A p.R1191Q Substitution - Missense Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3291641 CHD6 c.6860G>A p.R2287Q Substitution - Missense Skin COSM3991628 ASXL1 c.308A>G p.E103G Substitution - Missense Kidney COSM4587277 KMT2C c.1017G>C p.K339N Substitution - Missense Upper_aerodigestive_tract COSM3832366 KMT2C c.5135C>G p.S1712* Substitution - Nonsense Breast COSM4051445 ARID4A c.1754G>A p.R585Q Substitution - Missense Stomach COSM4656374 PHF21B c.537G>T p.Q179H Substitution - Missense Large_intestine COSM255011 KDM6A c.2324C>G p.S775* Substitution - Nonsense Urinary_tract COSM21194 TRIM33 c.3255C>T p.T1085T Substitution - coding silent Skin COSM1041422 TBL1XR1 c.283A>C p.R95R Substitution - coding silent Endometrium COSM2151925 CREBBP c.1256G>A p.W419* Substitution - Nonsense Central_nervous_system COSM133722 DNMT3A c.1816C>T p.Q606* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Prostate COSM2177186 TRIM33 c.2554T>A p.S852T Substitution - Missense Large_intestine COSM150428 KMT2C c.2958A>G p.P986P Substitution - coding silent Soft_tissue COSM907723 ARID1A c.4003C>T p.R1335* Substitution - Nonsense Endometrium COSM4972366 PRDM4 c.952C>T p.H318Y Substitution - Missense Oesophagus COSM5633069 BPTF c.7959A>G p.K2653K Substitution - coding silent Oesophagus COSM1732176 KDM6A c.40_42delGCC p.A17delA Deletion - In frame Kidney COSM941728 BAZ2A c.5194G>A p.G1732R Substitution - Missense Endometrium COSM298619 CLOCK c.1460C>T p.S487F Substitution - Missense Large_intestine COSM4885722 KDM4B c.2096C>A p.T699N Substitution - Missense Upper_aerodigestive_tract COSM1087 SMARCB1 c.?del? p.?fs Deletion - Frameshift Soft_tissue COSM4953184 TAF3 c.2017A>G p.R673G Substitution - Missense Liver COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4802046 MBD3 c.646A>G p.K216E Substitution - Missense Liver COSM5675971 EP400 c.8727C>T p.I2909I Substitution - coding silent Soft_tissue COSM3525409 ASXL3 c.49G>A p.E17K Substitution - Missense Skin COSM5993188 DMAP1 c.1361C>T p.S454L Substitution - Missense Prostate COSM85836 MEN1 c.1628C>A p.S543* Substitution - Nonsense Pancreas COSM5944136 TET2 c.3941_3941delA p.D1314fs*49 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM21288 BRD3 c.71delC p.P24fs*24 Deletion - Frameshift Stomach COSM5388873 BRD4 c.928C>T p.P310S Substitution - Missense Skin COSM4953986 KDM4B c.197T>C p.V66A Substitution - Missense Liver COSM1413026 DIDO1 c.1738A>T p.T580S Substitution - Missense Large_intestine COSM940054 KMT2D c.5514G>A p.P1838P Substitution - coding silent Endometrium COSM3967935 TDG c.421C>T p.P141S Substitution - Missense Central_nervous_system COSM51475 ARID1A c.4582C>T p.R1528* Substitution - Nonsense Ovary COSM1603629 JMJD1C c.686delA p.K229fs*13 Deletion - Frameshift Liver COSM1582062 ERCC6 c.3023C>T p.T1008I Substitution - Missense Stomach COSM419311 C20orf20 c.232T>G p.W78G Substitution - Missense Urinary_tract COSM1072914 NCOA7 c.572C>A p.P191H Substitution - Missense Endometrium COSM4031012 ARID1A c.3788C>T p.A1263V Substitution - Missense Stomach COSM24901 HNF1A c.71_82del12 p.I27_L30delIQAL Deletion - In frame Liver COSM4267263 EZH1 c.1078C>T p.R360C Substitution - Missense Skin COSM51461 ARID1A c.2290_2291insC p.Q766fs*51 Insertion - Frameshift Ovary COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Central_nervous_system COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5464902 NCOA6 c.4608T>C p.D1536D Substitution - coding silent Large_intestine COSM4674650 CREBBP c.3135A>G p.P1045P Substitution - coding silent Large_intestine COSM4532476 ASXL3 c.1010G>A p.G337E Substitution - Missense Skin COSM747179 BAZ1B c.4015C>T p.R1339W Substitution - Missense Prostate COSM3730906 PRDM8 c.515C>T p.A172V Substitution - Missense Stomach COSM1184957 BRPF3 c.2909G>A p.R970H Substitution - Missense Large_intestine COSM3767627 TET2 c.722C>T p.A241V Substitution - Missense Liver COSM1709001 JMJD5 c.569C>T p.P190L Substitution - Missense Skin COSM255626 PHF2 c.1261G>C p.E421Q Substitution - Missense Central_nervous_system COSM4807084 KMT2D c.2950C>T p.L984L Substitution - coding silent Pancreas COSM1661131 CHD9 c.347C>T p.P116L Substitution - Missense Kidney COSM3736946 BAP1 c.592G>T p.E198* Substitution - Nonsense Skin COSM3702267 KDM5D c.3432G>C p.E1144D Substitution - Missense Liver COSM4400536 L3MBTL4 c.3G>A p.M1I Substitution - Missense Skin COSM5561638 KMT2C c.4539A>T p.P1513P Substitution - coding silent Prostate COSM97162 PRDM1 c.183G>A p.E62fs Unknown Haematopoietic_and_lymphoid_tissue COSM22033 NCOA3 c.1496C>T p.P499L Substitution - Missense Lung COSM341482 HDAC9 c.2514C>A p.P838P Substitution - coding silent Lung COSM5065036 TET2 c.4657C>T p.Q1553* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM452718 KMT2C c.3840A>G p.P1280P Substitution - coding silent Breast COSM1625941 HDAC6 c.1155C>G p.G385G Substitution - coding silent Liver COSM372577 RBBP5 c.9C>G p.L3L Substitution - coding silent Lung COSM4627687 SIRT6 c.1059C>T p.V353V Substitution - coding silent Large_intestine COSM724855 C20orf20 c.540C>T p.S180S Substitution - coding silent Lung COSM219342 KDM4C c.2182+8G>A p.? Unknown Breast COSM3441507 BTAF1 c.4181G>A p.R1394K Substitution - Missense Skin COSM4146853 EP400 c.6646A>C p.T2216P Substitution - Missense Upper_aerodigestive_tract COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5396451 SP140_ENST00000392045 c.353T>C p.I118T Substitution - Missense Skin COSM1580014 ACTR5 c.1208T>C p.L403S Substitution - Missense Central_nervous_system COSM4476226 TDRD6 c.2051C>T p.P684L Substitution - Missense Skin COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5810029 RSF1 c.729A>T p.K243N Substitution - Missense Liver COSM4445052 PHF1 c.902G>A p.R301H Substitution - Missense Large_intestine COSM4915379 ZMYM1 c.1279A>G p.N427D Substitution - Missense Liver COSM487511 KDM4C c.2160G>A p.K720K Substitution - coding silent Kidney COSM3674656 BAG6 c.893C>T p.A298V Substitution - Missense Prostate COSM448196 PRDM8 c.2032C>G p.R678G Substitution - Missense Breast COSM3656849 TAF1L c.2942G>A p.G981E Substitution - Missense Skin COSM5895036 MBD1 c.1349C>T p.P450L Substitution - Missense Skin COSM221609 TET2 c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1463727 PHF2 c.996C>T p.F332F Substitution - coding silent Large_intestine COSM5996162 BRD8 c.3701T>C p.V1234A Substitution - Missense Prostate COSM3473723 TDRKH c.178C>T p.P60S Substitution - Missense Skin COSM4107975 HCFC1 c.3192C>A p.G1064G Substitution - coding silent Stomach COSM2966592 HDAC6 c.1422G>A p.W474* Substitution - Nonsense Large_intestine COSM3751147 PRDM16 c.2502C>T p.G834G Substitution - coding silent Large_intestine COSM88784 EP300 c.4879C>T p.R1627W Substitution - Missense Urinary_tract COSM1055642 GABRG1 c.1016T>C p.V339A Substitution - Missense Endometrium COSM1018603 ATAD2B_ENST00000238789 c.4304G>A p.R1435H Substitution - Missense Endometrium COSM3547336 EYA2 c.699G>A p.A233A Substitution - coding silent Skin COSM5407279 CBX3 c.414T>C p.F138F Substitution - coding silent Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM969203 JMJD5 c.423C>T p.V141V Substitution - coding silent Endometrium COSM1600768 SETDB1 c.2560T>G p.F854V Substitution - Missense Breast COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM221066 KMT2D c.15484C>T p.R5162W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5638854 KMT2D c.1584A>T p.P528P Substitution - coding silent Oesophagus COSM5609410 KMT2A c.6467C>T p.S2156F Substitution - Missense Skin COSM5729308 NSD1 c.1367C>T p.P456L Substitution - Missense Skin COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1624906 TAF1L c.773T>C p.V258A Substitution - Missense Liver COSM4546556 CHD7 c.4022G>A p.R1341K Substitution - Missense Skin COSM4603233 DIDO1 c.4878_4879insC p.A1627fs*53 Insertion - Frameshift Upper_aerodigestive_tract COSM3779924 SMARCA2 c.1269G>C p.L423L Substitution - coding silent Urinary_tract COSM3791046 HELLS c.309A>T p.K103N Substitution - Missense Urinary_tract COSM4049845 CHD8 c.5666G>A p.R1889H Substitution - Missense Stomach COSM6018612 BRWD3 c.1017C>T p.D339D Substitution - coding silent Skin COSM4185536 NCOR1 c.2338G>A p.V780M Substitution - Missense Kidney COSM4990234 KMT2D c.15116C>T p.P5039L Substitution - Missense Skin COSM5477829 TDRD5 c.1465C>T p.R489W Substitution - Missense Large_intestine COSM3736437 STK31 c.781G>A p.E261K Substitution - Missense Skin COSM1746651 KDM4D c.1387C>G p.Q463E Substitution - Missense Urinary_tract COSM679385 LBR c.958C>T p.H320Y Substitution - Missense Lung COSM5033358 KDM5A c.4133A>C p.E1378A Substitution - Missense Oesophagus COSM3636493 KMT2C c.7336C>T p.P2446S Substitution - Missense Skin COSM393853 TAF1L c.5195C>A p.P1732H Substitution - Missense Lung COSM1732023 PBRM1 c.613A>T p.S205C Substitution - Missense Kidney COSM1044882 SETMAR c.1689C>T p.I563I Substitution - coding silent Endometrium COSM5724242 MYST1 c.715G>A p.E239K Substitution - Missense Skin COSM4887076 LMNA c.1907G>T p.S636I Substitution - Missense Upper_aerodigestive_tract COSM3875083 PHF3 c.2564C>T p.P855L Substitution - Missense Stomach COSM78552 SND1 c.1404T>A p.D468E Substitution - Missense Ovary COSM5613770 ASH1L c.3127G>A p.G1043R Substitution - Missense Lung COSM254815 KMT2A c.7556C>T p.T2519I Substitution - Missense Urinary_tract COSM914321 RNF134 c.273G>T p.E91D Substitution - Missense Endometrium COSM3479318 TDRD5 c.2220G>A p.W740* Substitution - Nonsense Skin COSM1039202 ZBTB38 c.2394T>C p.P798P Substitution - coding silent Endometrium COSM3957246 SETDB2 c.1794G>A p.E598E Substitution - coding silent Ovary COSM5205754 ZMYM6 c.1166delG p.G389fs*33 Deletion - Frameshift Breast COSM311710 HCFC2 c.1092G>A p.Q364Q Substitution - coding silent Soft_tissue COSM80159 MBTD1 c.1176A>G p.Q392Q Substitution - coding silent Skin COSM2019071 RSF1 c.1673C>T p.S558F Substitution - Missense Skin COSM132701 HDAC2 c.542G>T p.G181V Substitution - Missense Central_nervous_system COSM1111307 PHF2 c.2800C>T p.L934L Substitution - coding silent Endometrium COSM1675527 PCGF6 c.565C>T p.R189* Substitution - Nonsense Large_intestine COSM4486317 SMARCA1 c.3036C>T p.F1012F Substitution - coding silent Skin COSM1123272 PHF8 c.1660G>T p.D554Y Substitution - Missense Endometrium COSM1066245 NSD1 c.3535G>T p.E1179* Substitution - Nonsense Endometrium COSM4843781 PHC2 c.1610C>A p.T537N Substitution - Missense Cervix COSM1495277 TCF20 c.5566_5567GA>TT p.E1856L Substitution - Missense Kidney COSM1225389 SETD8 c.219G>T p.E73D Substitution - Missense Large_intestine COSM4766109 TET2 c.2861G>A p.W954* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3688236 KMT2D c.3118C>T p.R1040W Substitution - Missense Large_intestine COSM4410977 SETD2 c.126T>A p.Y42* Substitution - Nonsense Kidney COSM4732892 TDRD1 c.1763T>C p.M588T Substitution - Missense Large_intestine COSM4512292 PRDM1 c.790C>T p.P264S Substitution - Missense Skin COSM373771 SETDB2 c.1636G>A p.D546N Substitution - Missense Lung COSM4015926 KAT6B c.4878C>T p.Y1626Y Substitution - coding silent Stomach COSM474095 DNMT1 c.2702A>C p.E901A Substitution - Missense Kidney COSM4792383 EP400 c.3670A>C p.T1224P Substitution - Missense Liver COSM4136393 ATRX c.3187T>C p.Y1063H Substitution - Missense Ovary COSM3525460 ASXL3 c.2512C>T p.P838S Substitution - Missense Skin COSM1302170 PRMT7 c.1139G>C p.G380A Substitution - Missense Urinary_tract COSM4380313 TAF1 c.491G>A p.G164E Substitution - Missense Large_intestine COSM4655986 TDRD6 c.1471G>A p.A491T Substitution - Missense Large_intestine COSM3660320 MECOM c.1613C>T p.S538L Substitution - Missense Liver COSM1262960 PRDM9 c.1766T>A p.F589Y Substitution - Missense Oesophagus COSM4469856 CHD6 c.1623C>T p.G541G Substitution - coding silent Skin COSM21474 HNF1A c.710A>G p.N237S Substitution - Missense Liver COSM954423 CHD8 c.5422C>T p.R1808* Substitution - Nonsense Endometrium COSM969946 SRCAP c.7861G>T p.E2621* Substitution - Nonsense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM88748 CREBBP c.4337G>A p.R1446H Substitution - Missense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM381178 SMARCD3 c.1080C>T p.S360S Substitution - coding silent Lung COSM5945229 KDM5A c.3930+2C>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1608855 CHD2 c.1242A>G p.L414L Substitution - coding silent Liver COSM4495907 NCOA6 c.4637C>T p.S1546F Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM96351 BAP1 c.512_512delT p.V171fs*16 Deletion - Frameshift Pleura COSM989 SMARCB1 c.1130G>A p.R377H Substitution - Missense Bone COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4446953 PRDM5 c.866-3T>A p.? Unknown Skin COSM4791037 L3MBTL2 c.1561G>C p.A521P Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM276400 NSD1 c.1176C>T p.F392F Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM267971 ASXL1 c.2893C>T p.R965* Substitution - Nonsense Large_intestine COSM1753556 SMARCA5 c.2565A>T p.K855N Substitution - Missense Urinary_tract COSM3883744 TRRAP c.6587G>T p.S2196I Substitution - Missense Stomach COSM3687502 MEN1 c.774G>C p.Q258H Substitution - Missense Large_intestine COSM4092249 SP140_ENST00000392045 c.314C>T p.T105I Substitution - Missense Stomach COSM1385429 BPTF c.3729C>T p.D1243D Substitution - coding silent Large_intestine COSM99740 DNMT3A c.2645G>C p.R882P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5064858 TAF1 c.4929G>A p.T1643T Substitution - coding silent Stomach COSM4497695 DIDO1 c.502C>T p.L168F Substitution - Missense Skin COSM3142257 CHD1 c.4448C>G p.S1483C Substitution - Missense Lung COSM5446196 ARID1A c.2162_2163insG p.N722fs*95 Insertion - Frameshift Thyroid COSM4441374 PYGO1 c.952A>G p.T318A Substitution - Missense Large_intestine COSM5991928 ACTR6 c.187-8delT p.? Unknown Prostate COSM3689030 PYGO2 c.616C>A p.L206M Substitution - Missense Large_intestine COSM4467690 KAT6B c.1502C>T p.S501F Substitution - Missense Skin COSM5371779 KMT2A c.9547G>A p.G3183S Substitution - Missense Skin COSM5978621 SETD2 c.5273C>T p.A1758V Substitution - Missense Upper_aerodigestive_tract COSM4917320 TET2 c.506A>T p.H169L Substitution - Missense Liver COSM4022664 GATAD2B c.1381C>T p.L461L Substitution - coding silent Stomach COSM3857246 PRDM1 c.2027C>T p.A676V Substitution - Missense Stomach COSM443952 NCOA3 c.1643T>G p.L548W Substitution - Missense Breast COSM1124814 ZMYM3 c.1786A>G p.S596G Substitution - Missense Endometrium COSM5988502 HNF1A c.838A>C p.K280Q Substitution - Missense Liver COSM4514519 KMT2A c.9776C>T p.P3259L Substitution - Missense Skin COSM4254911 IDH2 c.409G>T p.G137* Substitution - Nonsense Lung COSM126319 SMARCA5 c.3128G>T p.G1043V Substitution - Missense Upper_aerodigestive_tract COSM4766177 TET2 c.3442_3443insT p.Y1148fs*9 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5748877 BAZ2B c.1291C>T p.R431W Substitution - Missense Pancreas COSM1363346 MBD6 c.2193_2194insC p.Q734fs*4 Insertion - Frameshift Large_intestine COSM211620 TET2 c.3656A>T p.H1219L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4396172 PHF21B c.811C>T p.P271S Substitution - Missense Skin COSM748349 TRRAP c.1945G>T p.E649* Substitution - Nonsense Lung COSM2961647 MYST3 c.5868A>G p.G1956G Substitution - coding silent Upper_aerodigestive_tract COSM1602445 KDM4A c.2728A>G p.K910E Substitution - Missense Liver COSM1693766 MECOM c.2743G>A p.E915K Substitution - Missense Skin COSM5184924 UBR7 c.438C>T p.D146D Substitution - coding silent Large_intestine COSM674236 TRIM33 c.1218C>T p.S406S Substitution - coding silent Lung COSM5366096 DIDO1 c.2235G>A p.L745L Substitution - coding silent Large_intestine COSM43468 TET2 c.2721_2722insCT p.G908fs*14 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM415416 BTAF1 c.1084G>A p.E362K Substitution - Missense Urinary_tract COSM24933 HNF1A c.815G>A p.R272H Substitution - Missense Liver COSM24911 HNF1A c.686G>A p.R229Q Substitution - Missense Liver COSM33325 FXR1 c.697G>A p.A233T Substitution - Missense Breast COSM33091 EYA4 c.455T>G p.L152R Substitution - Missense Stomach COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43466 TET2 c.2133_2133delG p.E711fs*40 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM110710 ASXL1 c.1924G>T p.G642* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM133737 DNMT3A c.2207G>A p.R736H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM138746 TAF3 c.2335C>T p.P779S Substitution - Missense Skin COSM140391 TDRD5 c.214G>T p.G72C Substitution - Missense Skin COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Central_nervous_system COSM164281 SETD2 c.1981C>T p.Q661* Substitution - Nonsense Breast COSM164653 STK31 c.2536C>T p.H846Y Substitution - Missense Breast COSM250079 EZH2 c.1477C>T p.P493S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM231571 DNMT3A c.1502A>G p.N501S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM269624 MSH6 c.1370C>A p.A457D Substitution - Missense Large_intestine COSM250920 DUSP1 c.1023C>A p.F341L Substitution - Missense Liver COSM283992 PHF3 c.2400G>T p.M800I Substitution - Missense Large_intestine COSM286725 ZMYND11 c.799G>A p.D267N Substitution - Missense Large_intestine COSM291049 GLYR1 c.1474G>T p.G492* Substitution - Nonsense Large_intestine COSM291561 EZH2 c.1911G>A p.V637V Substitution - coding silent Large_intestine COSM293686 SP140_ENST00000392045 c.2008delA p.K672fs*4 Deletion - Frameshift Large_intestine COSM312108 KDM5C c.1074G>C p.L358L Substitution - coding silent Soft_tissue COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Large_intestine COSM307766 ASXL1 c.2242C>T p.Q748* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM373758 ERCC6 c.1226A>T p.K409M Substitution - Missense Lung COSM367781 ATRX c.4696G>C p.D1566H Substitution - Missense Lung COSM386450 RSF1 c.2558G>T p.R853I Substitution - Missense Lung COSM379084 CREBBP c.913A>G p.N305D Substitution - Missense Lung COSM397313 BRD9 c.1345C>T p.R449W Substitution - Missense Stomach COSM423059 PBRM1 c.1034delT p.T346fs*16 Deletion - Frameshift Kidney COSM448645 BRD8 c.457G>A p.E153K Substitution - Missense Breast COSM445046 L3MBTL2 c.2022G>A p.V674V Substitution - coding silent Breast COSM463806 RBBP5 c.904G>A p.A302T Substitution - Missense Kidney COSM939275 KDM5A c.2086C>T p.R696W Substitution - Missense Endometrium COSM919511 JMJD1C c.735G>A p.S245S Substitution - coding silent Endometrium COSM926748 RAG2 c.1524A>G p.K508K Substitution - coding silent Endometrium COSM1035245 BRD1 c.1586G>A p.R529Q Substitution - Missense Endometrium COSM1091572 BAZ1B c.727C>T p.R243C Substitution - Missense Endometrium COSM1086205 JHDM1D c.1421C>T p.A474V Substitution - Missense Endometrium COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1246213 BRD1 c.2675T>G p.L892R Substitution - Missense Oesophagus COSM1236485 CHD7 c.8649G>T p.L2883F Substitution - Missense Autonomic_ganglia COSM1209349 HCFC2 c.571G>T p.E191* Substitution - Nonsense Large_intestine COSM1200633 CDYL c.985C>T p.R329C Substitution - Missense Large_intestine COSM1196812 PCGF1 c.518G>A p.S173N Substitution - Missense Lung COSM1258628 KAT6B c.362C>T p.P121L Substitution - Missense Stomach COSM1178835 KDM4A c.412G>A p.G138S Substitution - Missense Prostate COSM1169588 PBRM1 c.2224_2235del12 p.E742_I745del Deletion - In frame Kidney COSM1158331 DOT1L c.965T>G p.L322R Substitution - Missense Pancreas COSM1169486 BAP1 c.2000G>A p.R667K Substitution - Missense Kidney COSM1605812 EP400 c.8633C>T p.A2878V Substitution - Missense Liver COSM1284752 EPC1 c.2088C>T p.G696G Substitution - coding silent Autonomic_ganglia COSM1317224 ASH2L c.171C>T p.S57S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1378184 BRD7 c.1873G>A p.E625K Substitution - Missense Large_intestine COSM1566684 PBRM1 c.2211A>G p.T737T Substitution - coding silent Soft_tissue COSM1615692 NCOA3 c.996A>G p.V332V Substitution - coding silent Liver COSM1633257 PBRM1 c.1727G>T p.R576L Substitution - Missense Liver COSM1667835 TRIM33 c.2654C>T p.P885L Substitution - Missense Large_intestine COSM1694081 WHSC1 c.3607_3608GG>AA p.G1203K Substitution - Missense Skin COSM1716414 CTCF c.610_611insA p.T204fs*26 Insertion - Frameshift Endometrium COSM1727638 TRIM33 c.1384G>A p.D462N Substitution - Missense Liver COSM1731937 ARID1B c.165_166insCAG p.Q73_H74insQ Insertion - In frame Central_nervous_system COSM1936760 BAZ2A c.234C>T p.F78F Substitution - coding silent Skin COSM2157022 SETD2 c.3330+2T>C p.? Unknown Central_nervous_system COSM2714715 IDH1 c.512A>G p.N171S Substitution - Missense Large_intestine COSM2812043 SETBP1 c.1232T>G p.L411R Substitution - Missense Large_intestine COSM2828729 SETD5_ENST00000402198 c.219T>C p.P73P Substitution - coding silent Upper_aerodigestive_tract COSM2861153 JHDM1D c.379C>T p.R127C Substitution - Missense Central_nervous_system COSM2866650 TRRAP c.5436C>T p.I1812I Substitution - coding silent Large_intestine COSM2965459 KDM6A c.3669C>T p.G1223G Substitution - coding silent Large_intestine COSM2995157 CTCF c.1566delT p.Y523fs*61 Deletion - Frameshift Large_intestine COSM3296311 EPC2 c.2133A>G p.A711A Substitution - coding silent Upper_aerodigestive_tract COSM3347117 EHMT2 c.3424C>T p.R1142* Substitution - Nonsense Large_intestine COSM3356815 JMJD5 c.1062G>A p.T354T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3360359 TDRD10 c.828G>T p.W276C Substitution - Missense Kidney COSM3375957 RSF1 c.1084G>A p.E362K Substitution - Missense Pancreas COSM3393997 HDGFL1 c.363C>T p.H121H Substitution - coding silent Pancreas COSM3397253 KAT6B c.1663G>A p.G555R Substitution - Missense Central_nervous_system COSM3495807 BAZ1A c.1860C>T p.L620L Substitution - coding silent Skin COSM3493324 BRDT c.526G>A p.E176K Substitution - Missense Skin COSM3457090 HNF1A c.462G>A p.M154I Substitution - Missense Skin COSM3623166 HDGFL1 c.675G>A p.R225R Substitution - coding silent Skin COSM3602802 WHSC1 c.62T>G p.M21R Substitution - Missense Skin COSM3549150 ZGPAT c.801C>T p.P267P Substitution - coding silent Skin COSM3514551 NCOR1 c.6640C>T p.R2214C Substitution - Missense Skin COSM3514570 NCOR1 c.196C>T p.R66* Substitution - Nonsense Skin COSM3650676 PRDM14 c.601G>T p.D201Y Substitution - Missense Skin COSM3693798 PRDM15 c.2004G>A p.P668P Substitution - coding silent Large_intestine COSM3676569 ZMYM2 c.827C>A p.S276Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3676772 PRDM2 c.4401T>G p.I1467M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3732447 HCFC1 c.2206-1G>T p.? Unknown Stomach COSM3767636 INTS12 c.693C>T p.A231A Substitution - coding silent Liver COSM3775757 WHSC1 c.2474A>C p.H825P Substitution - Missense Urinary_tract COSM3803839 SMYD2 c.766G>A p.D256N Substitution - Missense Breast COSM3812676 MBD6 c.532C>G p.L178V Substitution - Missense Breast COSM3937009 CCDC101 c.726C>G p.T242T Substitution - coding silent Oesophagus COSM3907607 UHRF2 c.2199C>T p.C733C Substitution - coding silent Prostate COSM4052629 ALKBH1 c.1100C>T p.T367I Substitution - Missense Stomach COSM4042401 KMT2D c.2876C>T p.P959L Substitution - Missense Prostate COSM3998641 TDG c.1099G>A p.V367M Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4129214 CTCF c.43A>T p.T15S Substitution - Missense Thyroid COSM4168356 ARID1A c.407_410delCTCA p.H137fs*94 Deletion - Frameshift Peritoneum COSM4263552 NCOR1 c.1192C>T p.R398W Substitution - Missense Prostate COSM4600938 NCOA2 c.1184T>C p.L395P Substitution - Missense Upper_aerodigestive_tract COSM4419394 RNF17 c.1498T>C p.C500R Substitution - Missense Prostate COSM4548101 PHF3 c.4399G>A p.D1467N Substitution - Missense Skin COSM4550924 MEN1 c.498G>A p.Q166Q Substitution - coding silent Skin COSM4445834 DOT1L c.4834C>T p.P1612S Substitution - Missense Skin COSM4671977 CHD3 c.854G>A p.R285Q Substitution - Missense Large_intestine COSM4689185 GTF3C1 c.1596G>A p.P532P Substitution - coding silent Large_intestine COSM4705977 NCOA7 c.60_61insA p.Q23fs*23 Insertion - Frameshift Large_intestine COSM4669571 CBX5 c.193G>C p.E65Q Substitution - Missense Large_intestine COSM4631961 TAF3 c.1762T>A p.Y588N Substitution - Missense Large_intestine COSM4796668 HDAC9 c.165G>A p.Q55Q Substitution - coding silent Liver COSM4796668 HDAC9 c.165G>A p.Q55Q Substitution - coding silent Liver COSM4898524 TAF1L c.3026G>A p.G1009E Substitution - Missense Skin COSM4902630 TDRD1 c.154A>G p.N52D Substitution - Missense Skin COSM4856417 CAMKMT c.721G>T p.A241S Substitution - Missense Cervix COSM4963751 MEN1 c.912+1G>T p.? Unknown Pancreas COSM4999331 ARID1A c.6094G>T p.E2032* Substitution - Nonsense Pancreas COSM4988836 GTF3C4 c.806G>A p.R269Q Substitution - Missense Soft_tissue COSM4970184 BAG6 c.987C>T p.N329N Substitution - coding silent Central_nervous_system COSM5026115 WHSC1 c.1389C>G p.F463L Substitution - Missense Breast COSM5149787 LMNB2 c.1374G>C p.E458D Substitution - Missense Large_intestine COSM5368051 SCML2 c.1823-8_1823-7insC p.? Unknown Large_intestine COSM5426962 SMARCA2 c.704A>C p.Q235P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5452068 PHF21B c.1037A>C p.K346T Substitution - Missense Large_intestine COSM5461245 NCOA1 c.2326G>A p.E776K Substitution - Missense Large_intestine COSM5612139 INTS12 c.116T>A p.L39* Substitution - Nonsense Adrenal_gland COSM5650401 TDRD6 c.3389C>A p.A1130E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5590774 EPC2 c.1135C>T p.P379S Substitution - Missense Skin COSM5713519 PRDM1 c.1064_1076del13 p.Y356fs*25 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5708620 FXR1 c.1171C>T p.R391W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5820909 CHD9 c.7424A>G p.Y2475C Substitution - Missense Liver COSM5944377 ASXL1 c.1888_1892delCACCA p.H630fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5931392 SETD5_ENST00000402198 c.179C>T p.T60M Substitution - Missense Skin COSM5907658 MGA c.8128G>A p.G2710R Substitution - Missense Skin COSM5930385 ATRX c.7372G>A p.G2458R Substitution - Missense Skin COSM5886197 SP140_ENST00000392045 c.1768C>T p.L590F Substitution - Missense Skin COSM5897594 PHF3 c.4330C>T p.P1444S Substitution - Missense Skin COSM5990110 TET2 c.821delT p.I274fs*19 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5998224 SMARCA2 c.1046+6G>A p.? Unknown Prostate COSM5973392 BAZ2B c.146G>T p.G49V Substitution - Missense Upper_aerodigestive_tract COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52945 DNMT3A c.? p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1133045 PHF6 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4167256 TET2 c.? p.A1045fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM4606363 PHF6 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4107965 HCFC1 c.3893C>T p.A1298V Substitution - Missense Stomach COSM2229148 EP400 c.5138G>A p.R1713H Substitution - Missense Large_intestine COSM5922084 POGZ c.104C>T p.S35L Substitution - Missense Skin COSM78297 PHF19 c.1250A>G p.H417R Substitution - Missense Ovary COSM5894926 RNF134 c.178C>T p.R60W Substitution - Missense Skin COSM983360 BPTF c.8305C>T p.R2769C Substitution - Missense Endometrium COSM1625940 HDAC6 c.388T>A p.S130T Substitution - Missense Liver COSM5806973 NCOA3 c.3921A>G p.Q1307Q Substitution - coding silent Liver COSM3859867 JARID2 c.3733T>C p.S1245P Substitution - Missense Stomach COSM4502194 SETD2 c.4567C>T p.P1523S Substitution - Missense Skin COSM96480 EZH2 c.475G>A p.G159R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3053398 SMEK2 c.1879G>A p.D627N Substitution - Missense Large_intestine COSM1318050 KDM2B c.1775A>G p.E592G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4618029 PHF20 c.2551G>A p.V851M Substitution - Missense Large_intestine COSM3636555 KMT2C c.948C>A p.T316T Substitution - coding silent Skin COSM5363368 SRCAP c.3889C>A p.Q1297K Substitution - Missense Large_intestine COSM3457522 SETD8 c.874C>T p.R292C Substitution - Missense Skin COSM5919759 TAF1L c.2260C>T p.H754Y Substitution - Missense Skin COSM4848716 PRDM11 c.529G>A p.G177S Substitution - Missense Cervix COSM230133 KMT2C c.1173C>A p.C391* Substitution - Nonsense Central_nervous_system COSM4469317 CREBBP c.1594C>T p.P532S Substitution - Missense Skin COSM3717766 BAHCC1 c.6675G>A p.A2225A Substitution - coding silent Liver COSM741906 BAG6 c.3229G>A p.E1077K Substitution - Missense Lung COSM4139829 ZBTB4 c.239C>T p.T80I Substitution - Missense Ovary COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Large_intestine COSM5911491 RBBP5 c.1167T>A p.S389R Substitution - Missense Skin COSM1617900 SFMBT1 c.1958G>A p.G653E Substitution - Missense Liver COSM5362033 PHF11 c.794delT p.F266fs*11 Deletion - Frameshift Large_intestine COSM1079893 TDRD6 c.2582C>A p.S861Y Substitution - Missense Endometrium COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM3807072 EPC1 c.1913G>T p.G638V Substitution - Missense Breast COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM249685 NCOR1 c.448G>A p.G150R Substitution - Missense Large_intestine COSM130349 ZMYM3 c.2342C>G p.T781R Substitution - Missense Upper_aerodigestive_tract COSM1084069 PHF14 c.2027G>A p.R676Q Substitution - Missense Breast COSM3394229 TDRD6 c.2032C>T p.L678L Substitution - coding silent Pancreas COSM239312 CHD6 c.1546G>A p.A516T Substitution - Missense Skin COSM4029314 ACTA1 c.631G>A p.V211M Substitution - Missense Stomach COSM1683716 ADNP c.419_420insCAG p.S141_T142insS Insertion - In frame Ovary COSM1222837 PYGO1 c.7G>A p.A3T Substitution - Missense Large_intestine COSM400673 HDAC9 c.2070G>A p.L690L Substitution - coding silent Lung COSM5548841 NSD1 c.5180C>T p.A1727V Substitution - Missense Prostate COSM4498959 DIDO1 c.5313C>T p.F1771F Substitution - coding silent Skin COSM5809621 ZMYM2 c.528A>T p.T176T Substitution - coding silent Liver COSM4780617 ASH1L c.5414G>C p.R1805P Substitution - Missense Liver COSM3867595 JMJD1C c.1733C>T p.P578L Substitution - Missense Skin COSM273621 ADNP c.3096delC p.Y1033fs*48 Deletion - Frameshift Large_intestine COSM3718650 PRDM9 c.2274C>A p.R758R Substitution - coding silent Upper_aerodigestive_tract COSM3735476 SETD3 c.1558C>T p.P520S Substitution - Missense Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4650874 HDAC6 c.1168G>A p.A390T Substitution - Missense Large_intestine COSM4159839 PRDM9 c.2042C>G p.T681S Substitution - Missense Upper_aerodigestive_tract COSM5551116 TAF1L c.972T>C p.C324C Substitution - coding silent Prostate COSM41292 IDH1 c.? p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3835245 TDRD7 c.1781T>G p.V594G Substitution - Missense Breast COSM1221874 PRDM13 c.541G>A p.A181T Substitution - Missense Large_intestine COSM3461603 KMT2D c.2274C>T p.S758S Substitution - coding silent Skin COSM87001 DNMT3A c.2644C>A p.R882S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM355325 TAF1L c.4751G>T p.R1584L Substitution - Missense Lung COSM3393794 NCOA7 c.242G>A p.R81H Substitution - Missense Pancreas COSM422311 PHF2 c.615C>T p.F205F Substitution - coding silent Urinary_tract COSM1101401 PRDM14 c.287G>T p.S96I Substitution - Missense Endometrium COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3592030 KAT2B c.2095C>T p.P699S Substitution - Missense Skin COSM1684209 JMJD1C c.2814_2819delAGGTTT p.G939_L940delGL Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM166346 DNMT3A c.? p.?fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM166346 DNMT3A c.? p.?fs*? Unknown Haematopoietic_and_lymphoid_tissue COSM3455337 TDG c.625C>T p.R209C Substitution - Missense Skin COSM3361598 CHD2 c.1502A>C p.K501T Substitution - Missense Large_intestine COSM87012 DNMT3A c.1903C>T p.R635W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5752041 CTCF c.1837+1_1837+2insT p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3936902 CHD2 c.4313C>T p.S1438L Substitution - Missense Oesophagus COSM4536385 SFMBT2 c.2296G>A p.G766S Substitution - Missense Skin COSM3618493 BRD9 c.857T>A p.F286Y Substitution - Missense Skin COSM1638301 SMEK1 c.1474A>G p.T492A Substitution - Missense Bone COSM1645454 HNF1A c.1288G>T p.G430C Substitution - Missense Large_intestine COSM3832370 KMT2C c.3652C>T p.Q1218* Substitution - Nonsense Breast COSM196099 INO80B c.465G>T p.K155N Substitution - Missense Stomach COSM679191 ACTA1 c.819G>T p.S273S Substitution - coding silent Lung COSM5944276 TET2 c.2846delA p.H949fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4669577 CBX6 c.440G>A p.R147H Substitution - Missense Large_intestine COSM4574900 KDM4D c.1113G>A p.A371A Substitution - coding silent Bone COSM3307234 HDAC9 c.2044C>T p.R682* Substitution - Nonsense Pancreas COSM1073186 L3MBTL3 c.2134G>A p.E712K Substitution - Missense Endometrium COSM1581246 KMT2C c.6965T>C p.V2322A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM6008650 EP300 c.5548C>T p.P1850S Substitution - Missense Prostate COSM4824595 SETD5_ENST00000402198 c.3443C>T p.S1148F Substitution - Missense Cervix COSM4924150 GTF3C1 c.6162G>T p.K2054N Substitution - Missense Liver COSM5607142 TRIM66 c.2578C>T p.P860S Substitution - Missense Skin COSM4436545 SND1 c.2245C>T p.R749* Substitution - Nonsense Oesophagus COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5933003 CHD4 c.2098C>T p.P700S Substitution - Missense Skin COSM3166395 ATAD2 c.42C>T p.S14S Substitution - coding silent Bone COSM4394454 ING5 c.75C>T p.F25F Substitution - coding silent Skin COSM706189 HDAC5 c.2161A>G p.T721A Substitution - Missense Lung COSM4793755 TRIM66 c.483G>A p.E161E Substitution - coding silent Liver COSM4953986 KDM4B c.197T>C p.V66A Substitution - Missense Liver COSM945396 ING1 c.305G>A p.R102H Substitution - Missense Endometrium COSM3839582 CAMKMT c.472A>G p.T158A Substitution - Missense Breast COSM925898 PRMT3 c.195A>G p.S65S Substitution - coding silent Endometrium COSM5599939 KMT2D c.1855C>T p.P619S Substitution - Missense Skin COSM1642306 PHF7 c.17_18insA p.K8fs*13 Insertion - Frameshift Stomach COSM5912139 SMARCA5 c.2398-6T>A p.? Unknown Skin COSM5458833 CHD6 c.248A>C p.E83A Substitution - Missense Large_intestine COSM3554882 EP300 c.1499C>T p.P500L Substitution - Missense Skin COSM308646 CHD6 c.3321_3322insT p.G1108fs*39 Insertion - Frameshift Soft_tissue COSM3429363 PRDM9 c.2272C>T p.R758C Substitution - Missense Large_intestine COSM3991216 NCOA1 c.2058G>A p.R686R Substitution - coding silent Kidney COSM4910017 ASXL3 c.819G>C p.E273D Substitution - Missense Liver COSM4963476 TP53BP1 c.1015C>G p.L339V Substitution - Missense Pancreas COSM1166673 KDM5A c.965G>A p.C322Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3664280 SMARCA2 c.657G>A p.Q219Q Substitution - coding silent Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3729570 PRDM4 c.2313A>C p.E771D Substitution - Missense Stomach COSM4637888 NCOA1 c.1811A>G p.D604G Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1681680 CHD6 c.5553A>C p.K1851N Substitution - Missense Prostate COSM1697061 BRPF3 c.481C>T p.L161F Substitution - Missense Skin COSM3873110 RING1 c.570C>T p.S190S Substitution - coding silent Stomach COSM5586867 TRRAP c.5575C>T p.P1859S Substitution - Missense Skin COSM5388125 SETBP1 c.1438C>T p.L480F Substitution - Missense Skin COSM594007 L3MBTL3 c.741G>T p.P247P Substitution - coding silent Endometrium COSM703031 CREBBP c.3893A>G p.Y1298C Substitution - Missense Lung COSM1122927 KDM5C c.3874G>A p.A1292T Substitution - Missense Endometrium COSM5668988 KAT5 c.1115A>G p.Y372C Substitution - Missense Soft_tissue COSM4054839 TP53BP1 c.2300G>A p.R767K Substitution - Missense Stomach COSM5878807 DNMT3A c.1708_1726del19 p.G570fs*75 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM750809 NCOA2 c.3244C>T p.Q1082* Substitution - Nonsense Lung COSM41293 IDH1 c.? p.R132S Substitution - Missense Central_nervous_system COSM5577754 SMARCC1 c.2606C>T p.A869V Substitution - Missense Skin COSM1668273 RNF2 c.760G>A p.A254T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5982242 MGMT c.337T>A p.S113T Substitution - Missense Upper_aerodigestive_tract COSM1356361 KDM2A c.2559delG p.G855fs*24 Deletion - Frameshift Large_intestine COSM5375279 KMT2D c.8038C>T p.P2680S Substitution - Missense Skin COSM133721 DNMT3A c.958C>T p.R320* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5510778 CREBBP c.1149G>A p.P383P Substitution - coding silent Biliary_tract COSM3976129 TDRKH c.1666G>C p.E556Q Substitution - Missense Lung COSM4394671 SETD2 c.3247C>T p.H1083Y Substitution - Missense Skin COSM4099100 NCOA3 c.2550T>A p.P850P Substitution - coding silent Stomach COSM4138733 EYA1 c.194C>A p.S65* Substitution - Nonsense Kidney COSM253764 KMT2A c.4437C>A p.C1479* Substitution - Nonsense Urinary_tract COSM1677489 EP400 c.3934G>A p.A1312T Substitution - Missense Large_intestine COSM5015670 CHD6 c.1618C>A p.H540N Substitution - Missense Kidney COSM301935 CHD7 c.755C>T p.S252L Substitution - Missense Central_nervous_system COSM1696937 JARID2 c.148G>A p.E50K Substitution - Missense Skin COSM923587 KMT2A c.6562C>T p.R2188* Substitution - Nonsense Large_intestine COSM3545309 DNMT3B c.1693C>T p.P565S Substitution - Missense Skin COSM23398 MEN1 c.249_252delGTCT p.I85fs*33 Deletion - Frameshift Breast COSM468037 EP400 c.8226A>G p.Q2742Q Substitution - coding silent Skin COSM342540 DAXX c.529C>T p.Q177* Substitution - Nonsense Lung COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3762398 TIF1 c.2487A>G p.G829G Substitution - coding silent Soft_tissue COSM211769 ARID1A c.4683_4684insC p.M1564fs*8 Insertion - Frameshift Endometrium COSM937150 EP400 c.2605A>C p.N869H Substitution - Missense Endometrium COSM1101399 PRDM14 c.365C>T p.A122V Substitution - Missense Endometrium COSM3381670 PHIP c.4999C>T p.Q1667* Substitution - Nonsense Pancreas COSM28815 KDM6A c.1_4206del4206 p.0? Whole gene deletion Breast COSM3706114 YY1 c.228C>T p.H76H Substitution - coding silent Liver COSM328564 NIPBL c.423T>A p.N141K Substitution - Missense Kidney COSM311997 ING2 c.200A>G p.Y67C Substitution - Missense Lung COSM1559373 HNF1A c.1545G>A p.T515T Substitution - coding silent Central_nervous_system COSM5042085 JHDM1D c.1714G>A p.A572T Substitution - Missense Liver COSM5984222 KMT2C c.12274G>A p.E4092K Substitution - Missense Upper_aerodigestive_tract COSM4384790 KDM2B c.431A>G p.K144R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1077623 BAG6 c.1886C>T p.A629V Substitution - Missense Endometrium COSM3857240 PRDM1 c.1365G>A p.A455A Substitution - coding silent Stomach COSM1744280 RNF2 c.818G>A p.R273Q Substitution - Missense Biliary_tract COSM5744044 ACTR5 c.1493C>T p.T498M Substitution - Missense Small_intestine COSM5358181 KMT2C c.6519A>G p.P2173P Substitution - coding silent Large_intestine COSM2828870 SETD5_ENST00000402198 c.3849delC p.S1286fs*84 Deletion - Frameshift Pancreas COSM940044 KMT2D c.6898C>A p.P2300T Substitution - Missense Endometrium COSM3775461 TET2 c.2966C>T p.P989L Substitution - Missense Urinary_tract COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM221577 DNMT3A c.2246_2246delG p.R749fs*30 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM337520 SMARCA4 c.1750A>T p.K584* Substitution - Nonsense Lung COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5890110 NIPBL c.1531C>T p.P511S Substitution - Missense Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5933009 CHD4 c.4236+5G>A p.? Unknown Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3372726 DNMT3A c.939G>A p.W313* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1106552 BRD3 c.1008G>A p.K336K Substitution - coding silent Endometrium COSM3363706 HDAC10 c.1439C>T p.A480V Substitution - Missense Kidney COSM3473675 POGZ c.2990G>T p.R997L Substitution - Missense Skin COSM4793948 TRRAP c.2447G>A p.R816Q Substitution - Missense Liver COSM4725322 SFMBT2 c.2550T>C p.I850I Substitution - coding silent Large_intestine COSM1478386 MORF4L1 c.413C>G p.S138C Substitution - Missense Breast COSM4681089 EP300 c.1785G>A p.P595P Substitution - coding silent Large_intestine COSM5051766 SMARCC2 c.2254+2T>C p.? Unknown Stomach COSM1167955 ARID2 c.2680C>T p.Q894* Substitution - Nonsense Skin COSM4641035 KMT2D c.9199C>T p.H3067Y Substitution - Missense Large_intestine COSM149230 PRDM15 c.4369C>T p.L1457L Substitution - coding silent Stomach COSM1028968 DIDO1 c.5400C>T p.F1800F Substitution - coding silent Endometrium COSM1302427 NCOR1 c.1408-1G>C p.? Unknown Urinary_tract COSM4989699 ARID2 c.2833C>A p.Q945K Substitution - Missense Soft_tissue COSM5019255 ARID1B c.1504A>G p.I502V Substitution - Missense Soft_tissue COSM1116466 FMR1 c.955G>A p.E319K Substitution - Missense Endometrium COSM1416758 PHF21B c.480C>T p.A160A Substitution - coding silent Large_intestine COSM4665066 BAHD1 c.1741C>T p.R581C Substitution - Missense Large_intestine COSM86973 IKZF1 c.161-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3991656 NCOA6 c.3199A>G p.R1067G Substitution - Missense Kidney COSM1168024 TET2 c.3737C>A p.S1246* Substitution - Nonsense Oesophagus COSM5969447 DMAP1 c.1186G>C p.E396Q Substitution - Missense Upper_aerodigestive_tract COSM5575937 ATRX c.3752C>T p.S1251F Substitution - Missense Stomach COSM961518 MGA c.4725G>A p.R1575R Substitution - coding silent Endometrium COSM4507521 RING1 c.748C>T p.P250S Substitution - Missense Skin COSM1228744 TCF20 c.3874G>A p.A1292T Substitution - Missense Large_intestine COSM86912 SP140_ENST00000392045 c.688A>G p.I230V Substitution - Missense Ovary COSM1027975 ADNP c.916C>T p.R306* Substitution - Nonsense Endometrium COSM4787512 DIDO1 c.2006A>G p.Q669R Substitution - Missense Liver COSM4663225 ARID1A c.4166A>G p.Y1389C Substitution - Missense Large_intestine COSM1293218 ASH1L c.1390A>G p.T464A Substitution - Missense Cervix COSM4988896 PHIP c.5284T>C p.S1762P Substitution - Missense Soft_tissue COSM5003916 MECP2 c.282G>T p.M94I Substitution - Missense Pancreas COSM1735038 DIDO1 c.4406C>T p.T1469M Substitution - Missense Pancreas COSM1211801 KDM6B c.4186T>G p.F1396V Substitution - Missense Large_intestine COSM1603777 TAF3 c.791A>G p.E264G Substitution - Missense Liver COSM3896559 ATAD2 c.1366A>G p.K456E Substitution - Missense Stomach COSM33632 KMT2C c.3842-11_3870del40 p.? Unknown Large_intestine COSM4726197 SIRT2 c.639C>G p.I213M Substitution - Missense Large_intestine COSM473193 SMARCD2 c.931C>T p.R311* Substitution - Nonsense Kidney COSM279596 CBX8 c.1166G>T p.R389I Substitution - Missense Large_intestine COSM5452182 KMT2C c.11355_11356insA p.S3786fs*10 Insertion - Frameshift Large_intestine COSM4120696 MINA c.1131G>A p.P377P Substitution - coding silent Stomach COSM937502 ATF7IP c.1835G>A p.C612Y Substitution - Missense Endometrium COSM268886 CHD6 c.706C>T p.R236* Substitution - Nonsense Large_intestine COSM3618522 BRD9 c.166G>A p.G56R Substitution - Missense Skin COSM42052 TET2 c.1771C>T p.Q591* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM52875 PBRM1 c.1203delG p.Q402fs*2 Deletion - Frameshift Kidney COSM52995 EZH2 c.863G>A p.R288Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4556276 TRRAP c.6813G>A p.L2271L Substitution - coding silent Skin COSM3711477 CHD8 c.6536G>T p.S2179I Substitution - Missense Upper_aerodigestive_tract COSM1416616 TCF20 c.4737delA p.K1579fs*36 Deletion - Frameshift Genital_tract COSM4470935 SMARCA4 c.168C>T p.I56I Substitution - coding silent Skin COSM1101455 EYA1 c.892G>T p.G298C Substitution - Missense Endometrium COSM1026107 NCOA6 c.792G>A p.Q264Q Substitution - coding silent Endometrium COSM5470533 CHD9 c.8240A>G p.D2747G Substitution - Missense Large_intestine COSM5101111 BAHCC1 c.2619G>A p.Q873Q Substitution - coding silent Large_intestine COSM4076203 DOT1L c.331C>A p.L111M Substitution - Missense Stomach COSM1462173 KIAA1045 c.453C>T p.T151T Substitution - coding silent Large_intestine COSM5064906 BRWD3 c.1324G>C p.V442L Substitution - Missense Stomach COSM941740 BAZ2A c.4350C>A p.F1450L Substitution - Missense Endometrium COSM3514568 NCOR1 c.460G>A p.E154K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1735411 RSF1 c.2398delA p.R800fs*24 Deletion - Frameshift Large_intestine COSM3358517 PBRM1 c.2789delA p.K930fs*84 Deletion - Frameshift Kidney COSM4900649 TDRD6 c.1574C>T p.S525F Substitution - Missense Skin COSM339908 MYST3 c.5954G>A p.S1985N Substitution - Missense Lung COSM4789681 SETD3 c.439C>T p.R147* Substitution - Nonsense Liver COSM4908749 PHF16 c.601G>A p.V201M Substitution - Missense Central_nervous_system COSM4713940 PHF15 c.1196A>C p.Q399P Substitution - Missense Large_intestine COSM5027526 CHD4 c.3447C>A p.N1149K Substitution - Missense Breast COSM3296128 MBD5 c.1326C>A p.P442P Substitution - coding silent Upper_aerodigestive_tract COSM5752543 ATRX c.7072-1G>T p.? Unknown Breast COSM186813 NIPBL c.3659C>T p.A1220V Substitution - Missense Lung COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4694042 KAT2A c.960C>T p.S320S Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4974262 KDM5A c.1126G>C p.D376H Substitution - Missense Oesophagus COSM1754577 SHPRH c.1978G>C p.E660Q Substitution - Missense Urinary_tract COSM3194731 AKAP1 c.85delA p.G31fs*18 Deletion - Frameshift Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5611228 ARID1B c.3886_3887CC>TT p.P1296F Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5917331 ORC1 c.863C>T p.P288L Substitution - Missense Skin COSM3485457 KDM1A c.1597C>T p.Q533* Substitution - Nonsense Skin COSM4506451 BRD1 c.720C>T p.A240A Substitution - coding silent Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM278971 ARID2 c.940C>T p.R314C Substitution - Missense Skin COSM5359931 SFMBT2 c.1740G>C p.R580S Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4118119 DHX30 c.3098G>A p.G1033D Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM894483 TTF2 c.328C>T p.H110Y Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4064359 RAI1 c.4030T>A p.F1344I Substitution - Missense Stomach COSM3749492 DOT1L c.4156G>A p.G1386S Substitution - Missense Large_intestine COSM4603312 EP400 c.8184_8185insCAG p.Q2748_T2749insQ Insertion - In frame Upper_aerodigestive_tract COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM52988 DNMT3A c.? p.R598* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2919940 CREBBP c.5139C>T p.H1713H Substitution - coding silent Large_intestine COSM3744615 TP53BP1 c.1059C>G p.D353E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM273326 TAF1L c.3096T>C p.P1032P Substitution - coding silent Large_intestine COSM5642938 TET2 c.5911C>G p.L1971V Substitution - Missense Oesophagus COSM95427 UHRF1 c.1467C>G p.F489L Substitution - Missense Lung COSM4591511 CBX4 c.670G>A p.G224S Substitution - Missense Upper_aerodigestive_tract COSM4628496 JARID2 c.2111A>G p.Y704C Substitution - Missense Large_intestine COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM166004 CHD1 c.2452_2454delGAT p.D818delD Deletion - In frame Breast COSM149916 BRD8 c.3120+8A>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4048184 TDRD3 c.839A>T p.K280I Substitution - Missense Stomach COSM1478997 CTCF c.677A>G p.Y226C Substitution - Missense Breast COSM3831518 MLL5 c.68C>G p.S23* Substitution - Nonsense Breast COSM5498828 SP100 c.804G>A p.L268L Substitution - coding silent Biliary_tract COSM3709467 SP100 c.1367C>G p.S456* Substitution - Nonsense Liver COSM5409748 CHD7 c.7856C>G p.S2619* Substitution - Nonsense Skin COSM1315903 BAZ2B c.3972A>C p.K1324N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1047085 PBRM1 c.3100A>T p.K1034* Substitution - Nonsense Kidney COSM3660322 MECOM c.1511C>A p.P504H Substitution - Missense Liver COSM1051606 SMARCA5 c.949A>C p.K317Q Substitution - Missense Endometrium COSM941723 BAZ2A c.5656G>T p.G1886* Substitution - Nonsense Endometrium COSM4167268 TET2 c.? p.L1312V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM42070 TET2 c.5650A>G p.T1884A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM30372 KMT2A c.1058G>A p.R353Q Substitution - Missense Kidney COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM43395 SETD2 c.2267G>T p.G756V Substitution - Missense Kidney COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM110414 SMARCB1 c.563C>T p.P188L Substitution - Missense Kidney COSM112087 TDG c.286_287insA p.I98fs*6 Insertion - Frameshift Central_nervous_system COSM124348 MBD5 c.3253G>A p.V1085I Substitution - Missense Oesophagus COSM128730 NCOA3 c.3763_3765delCAG p.Q1255delQ Deletion - In frame Upper_aerodigestive_tract COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Central_nervous_system COSM173622 BAZ1B c.596G>A p.R199Q Substitution - Missense Large_intestine COSM224101 EP300 c.1927G>A p.E643K Substitution - Missense Skin COSM254629 CREBBP c.3217C>T p.Q1073* Substitution - Nonsense Urinary_tract COSM251401 ARID1A c.1210C>T p.Q404* Substitution - Nonsense Liver COSM259340 ADNP c.1528C>A p.H510N Substitution - Missense Large_intestine COSM279000 ASH1L c.1777G>A p.E593K Substitution - Missense Large_intestine COSM341784 DOT1L c.1585G>C p.A529P Substitution - Missense Lung COSM372890 SETBP1 c.4096G>T p.A1366S Substitution - Missense Lung COSM416141 BAZ2A_ENST00000379441 c.3980C>G p.S1327* Substitution - Nonsense Urinary_tract COSM435318 GLYR1 c.1247_1249delGCT p.C416delC Deletion - In frame Breast COSM450632 SHPRH c.226G>C p.V76L Substitution - Missense Breast COSM464487 ZMYM1 c.2402A>C p.K801T Substitution - Missense Large_intestine COSM478001 ASXL1 c.272C>G p.S91C Substitution - Missense Kidney COSM979849 HDAC5 c.3028G>A p.A1010T Substitution - Missense Large_intestine COSM988862 CXXC1 c.1125C>T p.C375C Substitution - coding silent Endometrium COSM485540 BAZ1B c.1581A>G p.E527E Substitution - coding silent Kidney COSM1600793 POGZ c.1945T>A p.C649S Substitution - Missense Liver COSM963072 PYGO1 c.999C>T p.G333G Substitution - coding silent Endometrium COSM954429 CHD8 c.4483C>T p.R1495C Substitution - Missense Endometrium COSM939967 KMT2D c.15520G>A p.E5174K Substitution - Missense Endometrium COSM1030671 BRWD1 c.6074A>G p.N2025S Substitution - Missense Endometrium COSM1692340 BRPF1 c.3056C>G p.S1019* Substitution - Nonsense Skin COSM738269 PRDM9 c.2244T>C p.Y748Y Substitution - coding silent Lung COSM673682 NSD1 c.6653T>C p.I2218T Substitution - Missense Endometrium COSM1009806 ATF2 c.931C>T p.R311* Substitution - Nonsense Endometrium COSM1034758 TCF20 c.4659G>T p.Q1553H Substitution - Missense Endometrium COSM1071746 PRDM1 c.1412A>G p.D471G Substitution - Missense Endometrium COSM970546 CREBBP c.6310C>T p.R2104C Substitution - Missense Prostate COSM1018119 TET2 c.3448C>G p.H1150D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1078478 BRPF3 c.14G>A p.R5H Substitution - Missense Endometrium COSM1115435 PHF6 c.567A>T p.E189D Substitution - Missense Endometrium COSM1087037 EZH2 c.2085G>A p.S695S Substitution - coding silent Endometrium COSM1093693 TRRAP c.8960C>T p.A2987V Substitution - Missense Endometrium COSM1088615 STK31 c.463G>T p.E155* Substitution - Nonsense Endometrium COSM1240266 SMYD4 c.1047C>T p.H349H Substitution - coding silent Oesophagus COSM1202269 CREBBP c.6596A>T p.Q2199L Substitution - Missense Large_intestine COSM1693776 MECOM c.1852G>A p.E618K Substitution - Missense Skin COSM1211732 KDM4A c.2516G>T p.R839I Substitution - Missense Large_intestine COSM1187871 EHMT1 c.1700G>T p.G567V Substitution - Missense Lung COSM1158712 ATRX c.2763C>T p.V921V Substitution - coding silent Pancreas COSM1307999 SMARCB1 c.775G>A p.D259N Substitution - Missense Urinary_tract COSM1387269 KDM6B c.3245C>T p.P1082L Substitution - Missense Large_intestine COSM1381127 NCOR1 c.3440G>A p.G1147E Substitution - Missense Large_intestine COSM1431299 PRDM8 c.2017G>T p.E673* Substitution - Nonsense Large_intestine COSM1439344 CHD1 c.1102C>T p.P368S Substitution - Missense Large_intestine COSM1339911 ACTA1 c.911G>A p.G304D Substitution - Missense Large_intestine COSM1365736 ZMYM2 c.3742delA p.N1250fs*3 Deletion - Frameshift Large_intestine COSM1491238 ZMYM3 c.3483C>T p.Y1161Y Substitution - coding silent Breast COSM1480539 CARM1 c.950C>T p.S317F Substitution - Missense Breast COSM1615584 ACTR5 c.1299G>T p.V433V Substitution - coding silent Liver COSM1639813 ARID1A c.2268delC p.Q758fs*75 Deletion - Frameshift Stomach COSM1715010 PHF8 c.922_923GG>AA p.G308K Substitution - Missense Skin COSM1716648 ATRX c.2174_2175delTG p.V725fs*7 Deletion - Frameshift Central_nervous_system COSM1716580 BAP1 c.2057G>A p.G686D Substitution - Missense Pleura COSM1727831 SMARCA1 c.2427G>T p.K809N Substitution - Missense Liver COSM1751640 BRWD1 c.4362C>T p.I1454I Substitution - coding silent Urinary_tract COSM2243438 RERE c.2942delC p.P981fs*27 Deletion - Frameshift Large_intestine COSM2739011 NCOR1 c.3563C>T p.S1188L Substitution - Missense Large_intestine COSM3296120 MBD5 c.1171A>G p.M391V Substitution - Missense Upper_aerodigestive_tract COSM3283309 BRD4 c.576C>T p.G192G Substitution - coding silent Stomach COSM3349517 RING1 c.984A>C p.G328G Substitution - coding silent Large_intestine COSM3358555 PBRM1 c.994delC p.R332fs*30 Deletion - Frameshift Kidney COSM3393520 PRDM9 c.591G>A p.P197P Substitution - coding silent Stomach COSM3379069 ZMYND8 c.3486G>A p.S1162S Substitution - coding silent Pancreas COSM3409052 PHF17 c.381C>G p.G127G Substitution - coding silent Central_nervous_system COSM3508896 SRCAP c.2005C>T p.P669S Substitution - Missense Skin COSM3501108 MGA c.6122A>C p.K2041T Substitution - Missense Skin COSM3441511 BTAF1 c.4495T>A p.F1499I Substitution - Missense Skin COSM3463387 SMARCC2 c.2052C>T p.V684V Substitution - coding silent Skin COSM3642842 TRRAP c.10899C>T p.A3633A Substitution - coding silent Skin COSM3636969 HDAC9 c.43C>T p.P15S Substitution - Missense Skin COSM3589860 MECOM c.1877C>T p.S626F Substitution - Missense Skin COSM3559638 HCFC1 c.1922C>T p.T641I Substitution - Missense Skin COSM3716423 POGZ c.2311G>T p.V771L Substitution - Missense Prostate COSM3715912 ELP3 c.85G>A p.A29T Substitution - Missense Upper_aerodigestive_tract COSM3741286 SCMH1 c.766T>G p.L256V Substitution - Missense Liver COSM3801419 TTF2 c.2724A>G p.S908S Substitution - coding silent Breast COSM3861873 EHMT2 c.2001C>T p.I667I Substitution - coding silent Stomach COSM3934125 ASH1L c.2383G>A p.D795N Substitution - Missense Oesophagus COSM3830923 PHF3 c.1983G>T p.L661L Substitution - coding silent Breast COSM3877916 SND1 c.2110G>A p.G704S Substitution - Missense Stomach COSM3874512 TDRD6 c.508G>A p.V170I Substitution - Missense Stomach COSM4098462 CHD6 c.2258-1G>T p.? Unknown Stomach COSM4094431 MSH6 c.806C>G p.T269S Substitution - Missense Stomach COSM4070308 CBX2 c.797G>A p.S266N Substitution - Missense Stomach COSM4145728 PHF21A c.975C>A p.S325R Substitution - Missense Upper_aerodigestive_tract COSM4170105 TET2 c.3438delT p.Y1148fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4186853 SRCAP c.362T>C p.L121P Substitution - Missense Kidney COSM4408613 MYST3 c.2830G>C p.V944L Substitution - Missense Oesophagus COSM4596859 RSF1 c.3269G>T p.R1090L Substitution - Missense Upper_aerodigestive_tract COSM4586065 BRD9 c.1293G>A p.T431T Substitution - coding silent Bone COSM4591258 PHF3 c.236G>T p.C79F Substitution - Missense Upper_aerodigestive_tract COSM4469883 SCMH1 c.1454C>T p.S485F Substitution - Missense Skin COSM4731937 TAF1 c.2667T>C p.Y889Y Substitution - coding silent Large_intestine COSM4681596 ERCC6 c.2890A>G p.T964A Substitution - Missense Large_intestine COSM4694057 MYST3 c.3373G>T p.V1125L Substitution - Missense Large_intestine COSM4702393 KMT2A c.6535G>T p.G2179C Substitution - Missense Large_intestine COSM4627098 HDAC7 c.122G>A p.R41H Substitution - Missense Large_intestine COSM4770500 KMT2C c.11594C>G p.S3865* Substitution - Nonsense Breast COSM4803668 JMJD1C c.4143T>C p.S1381S Substitution - coding silent Liver COSM4787596 PHF19 c.600C>A p.C200* Substitution - Nonsense Liver COSM4919921 MYST3 c.4316A>G p.H1439R Substitution - Missense Liver COSM4832061 PRDM2 c.4083G>C p.K1361N Substitution - Missense Cervix COSM4820007 SMEK2 c.5C>T p.S2L Substitution - Missense Cervix COSM4950303 PHF14 c.1829A>G p.H610R Substitution - Missense Liver COSM4962276 BAHCC1 c.7435C>T p.R2479W Substitution - Missense Pancreas COSM5003280 AKAP1 c.1381C>A p.L461M Substitution - Missense Pancreas COSM4977945 BRDT c.1067A>G p.H356R Substitution - Missense Oesophagus COSM5009139 MYST3 c.2590C>T p.R864W Substitution - Missense Large_intestine COSM5348135 ARID1A c.5133delG p.L1712fs*2 Deletion - Frameshift Liver COSM5342365 ZMYM6 c.2624C>G p.T875S Substitution - Missense Large_intestine COSM5380693 PHC2 c.529C>T p.P177S Substitution - Missense Skin COSM5480901 PHRF1 c.3478C>T p.R1160W Substitution - Missense Large_intestine COSM5434874 BAZ2A_ENST00000379441 c.1877A>T p.D626V Substitution - Missense Oesophagus COSM5757357 SMARCA2 c.4085A>G p.E1362G Substitution - Missense Large_intestine COSM5741414 DNMT1 c.4333C>T p.R1445W Substitution - Missense Small_intestine COSM5724594 TRIM33 c.2406G>T p.R802S Substitution - Missense Skin COSM5744037 NCOA6 c.830_831insGCA p.Q285_L286insQ Insertion - In frame Upper_aerodigestive_tract COSM5591487 KDM3B c.717C>T p.I239I Substitution - coding silent Skin COSM5596290 ARID1B c.3052C>T p.P1018S Substitution - Missense Skin COSM5586373 RAD54L c.2126G>A p.C709Y Substitution - Missense Skin COSM5714265 JHDM1D c.898A>C p.I300L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5708546 MECOM c.435C>A p.N145K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5559669 SIRT5 c.10C>G p.L4V Substitution - Missense Prostate COSM5611444 BAP1 c.855_856insC p.K286fs*21 Insertion - Frameshift Pleura COSM5794040 BRD8 c.2621C>T p.P874L Substitution - Missense Breast COSM5935836 ARID2 c.2954C>T p.P985L Substitution - Missense Skin COSM5914366 PRDM15 c.3101C>T p.T1034I Substitution - Missense Skin COSM5932503 TAF1L c.1003C>T p.P335S Substitution - Missense Skin COSM5978950 BRD9 c.1339G>A p.G447S Substitution - Missense Upper_aerodigestive_tract COSM5986559 NCOR1 c.5790_5791insAAGCGCCC p.N1931fs*6 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM6006216 AIRE c.118G>A p.E40K Substitution - Missense Small_intestine COSM6013601 POLE3 c.268G>C p.E90Q Substitution - Missense Skin COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM85769 EZH2 c.? p.Y646? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1716600 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4169434 SMARCA4 c.? p.P1344S Substitution - Missense Skin COSM34193 ASXL1 c.? p.R596fs*23 Frameshift Haematopoietic_and_lymphoid_tissue COSM88786 EP300 c.6523A>C p.M2175L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2996463 PRMT7 c.222C>T p.G74G Substitution - coding silent Large_intestine COSM4702484 KMT2C c.11409C>T p.D3803D Substitution - coding silent Large_intestine COSM244869 HDAC3 c.277G>A p.D93N Substitution - Missense Prostate COSM5493422 SETD1A c.4514_4516delAGG p.E1506delE Deletion - In frame Biliary_tract COSM344498 PHF12 c.2623G>C p.E875Q Substitution - Missense Lung COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM4636283 PHC1 c.279G>A p.Q93Q Substitution - coding silent Large_intestine COSM3637077 HDAC9 c.2584G>A p.E862K Substitution - Missense Skin COSM5684873 GABRG1 c.1293G>C p.R431S Substitution - Missense Soft_tissue COSM1489932 TAF1L c.4086C>G p.L1362L Substitution - coding silent Breast COSM301319 SUZ12 c.301C>T p.R101* Substitution - Nonsense Prostate COSM4805566 SMEK1 c.1144A>G p.T382A Substitution - Missense Liver COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM1465509 SMARCA1 c.983G>A p.R328H Substitution - Missense Large_intestine COSM1087507 KMT2C c.14121T>C p.G4707G Substitution - coding silent Endometrium COSM237665 LMNB1 c.1162T>C p.L388L Substitution - coding silent Prostate COSM5988495 HNF1A c.956_1127del172 p.G319fs*8 Deletion - Frameshift Liver COSM96341 DNMT3A c.2621A>G p.Y874C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM697540 CHD8 c.4648G>A p.D1550N Substitution - Missense Lung COSM4385425 ATRX c.2484G>C p.M828I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4028652 LBR c.1410C>G p.F470L Substitution - Missense Stomach COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Prostate COSM4428741 ATAD2 c.3543G>T p.R1181S Substitution - Missense Oesophagus COSM4480363 PRDM1 c.2303C>T p.P768L Substitution - Missense Skin COSM2874661 NCOA2 c.600T>C p.C200C Substitution - coding silent Large_intestine COSM4928639 KDM2A c.444T>A p.F148L Substitution - Missense Liver COSM1318615 TET2 c.4263_4264insAT p.K1422fs*27 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4922073 EHMT1 c.2514G>T p.Q838H Substitution - Missense Liver COSM4611384 HNF1A c.864_865insC p.G292fs*25 Insertion - Frameshift Pancreas COSM5474122 DOT1L c.3970G>A p.A1324T Substitution - Missense Large_intestine COSM3674876 KMT2C c.6779C>G p.A2260G Substitution - Missense Prostate COSM20436 TAF1L c.1994delA p.K665fs*4 Deletion - Frameshift Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM1738045 TET2 c.? p.S825* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM437714 CHD3 c.1627C>T p.Q543* Substitution - Nonsense Breast COSM5568241 SP140_ENST00000392045 c.1178C>T p.S393L Substitution - Missense Prostate COSM4705979 NCOR1 c.6006G>A p.A2002A Substitution - coding silent Large_intestine COSM5754053 MPHOSPH8 c.911T>C p.M304T Substitution - Missense Large_intestine COSM5008239 KMT2C c.10G>A p.E4K Substitution - Missense Large_intestine COSM1737964 TET2 c.3765C>G p.Y1255* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM87153 TET2 c.4097G>A p.R1366H Substitution - Missense Breast COSM1600279 BAG6 c.103G>A p.A35T Substitution - Missense Central_nervous_system COSM473420 JMJD6 c.130-1G>A p.? Unknown Kidney COSM3978451 EPC1 c.324G>A p.L108L Substitution - coding silent Lung COSM5574219 SETD1A c.1211G>A p.R404H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM3677404 PYGO2 c.153+2T>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4201430 TRIM66 c.1797G>A p.A599A Substitution - coding silent Large_intestine COSM2961645 MYST3 c.5910T>A p.P1970P Substitution - coding silent Upper_aerodigestive_tract COSM4401870 BRWD1 c.4189A>C p.R1397R Substitution - coding silent Skin COSM221118 KMT2D c.839+2T>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1309383 ACTR8 c.971G>A p.R324Q Substitution - Missense Urinary_tract COSM4565156 TRIM66 c.1789_1790CC>TT p.P597F Substitution - Missense Skin COSM145234 CHD2 c.1859A>T p.H620L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1643194 MLL5 c.1476delA p.D495fs*26 Deletion - Frameshift Large_intestine COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM937495 ATF7IP c.1287_1288delTA p.M430fs*4 Deletion - Frameshift Endometrium COSM4410992 SETD2 c.3446C>T p.T1149I Substitution - Missense Kidney COSM1248209 CHD4 c.3119A>G p.Y1040C Substitution - Missense Oesophagus COSM4856715 EP300 c.4934G>A p.R1645Q Substitution - Missense Skin COSM1745514 TET2 c.2374_2375insC p.S794fs*8 Insertion - Frameshift Urinary_tract COSM1611472 DNMT1 c.1897G>A p.A633T Substitution - Missense Liver COSM1732110 PBRM1 c.1060G>T p.E354* Substitution - Nonsense Kidney COSM41294 IDH1 c.? p.R132C Substitution - Missense Biliary_tract COSM4794483 SND1 c.2576G>A p.G859E Substitution - Missense Liver COSM3395785 TAF1L c.156G>A p.E52E Substitution - coding silent Pancreas COSM4788383 PRMT2 c.427G>T p.D143Y Substitution - Missense Liver COSM1666833 CBX4 c.1514T>C p.V505A Substitution - Missense Liver COSM5053521 KDM4A c.1035G>A p.L345L Substitution - coding silent Stomach COSM907723 ARID1A c.4003C>T p.R1335* Substitution - Nonsense Endometrium COSM150428 KMT2C c.2958A>G p.P986P Substitution - coding silent Soft_tissue COSM4558392 GABRG1 c.766G>A p.D256N Substitution - Missense Skin COSM4442009 SRCAP c.2222G>A p.R741H Substitution - Missense Large_intestine COSM3455337 TDG c.625C>T p.R209C Substitution - Missense Skin COSM987430 SMCHD1 c.3295C>A p.L1099I Substitution - Missense Endometrium COSM3430979 ZCWPW1 c.1046C>T p.S349F Substitution - Missense Skin COSM3467601 ZMYM2 c.3569G>A p.G1190E Substitution - Missense Skin COSM727602 RUVBL1 c.368G>T p.R123L Substitution - Missense Lung COSM2803193 CHD3 c.4580G>A p.R1527H Substitution - Missense Large_intestine COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4115389 TBL1XR1 c.504T>C p.H168H Substitution - coding silent Stomach COSM4459628 ZBTB33 c.1133C>T p.P378L Substitution - Missense Skin COSM2270969 TET2 c.4836_4842delTAATCCC p.N1613fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3361707 GTF3C1 c.2794G>A p.E932K Substitution - Missense Kidney COSM260044 CDYL c.951C>T p.D317D Substitution - coding silent Large_intestine COSM1194749 SMARCA4 c.3703G>T p.D1235Y Substitution - Missense Adrenal_gland COSM1216868 NCOR1 c.1060G>T p.E354* Substitution - Nonsense Large_intestine COSM3642757 TRRAP c.2293C>T p.R765C Substitution - Missense Skin COSM4881972 KDM6A c.554C>G p.S185C Substitution - Missense Upper_aerodigestive_tract COSM4402690 KMT2D c.14969C>T p.P4990L Substitution - Missense Skin COSM5477819 RSF1 c.918G>A p.K306K Substitution - coding silent Large_intestine COSM4576388 HDGF c.529G>A p.G177R Substitution - Missense Bone COSM5040794 SMCHD1 c.364G>C p.A122P Substitution - Missense Liver COSM3986768 EP400 c.6127G>A p.A2043T Substitution - Missense Kidney COSM4503324 CBX4 c.637C>T p.P213S Substitution - Missense Skin COSM1321526 TDRD1 c.2479C>T p.R827W Substitution - Missense Large_intestine COSM223408 JMJD1C c.850C>T p.P284S Substitution - Missense Skin COSM5051600 HDAC7 c.1737G>A p.S579S Substitution - coding silent Stomach COSM4663955 ATAT1 c.799delC p.R269fs*>55 Deletion - Frameshift Large_intestine COSM5735962 ATAD2B_ENST00000238789 c.2528T>C p.V843A Substitution - Missense Small_intestine COSM1727481 CHD6 c.5807G>T p.C1936F Substitution - Missense Liver COSM2889572 DNMT3B c.1445G>A p.C482Y Substitution - Missense Large_intestine COSM5944201 DNMT3A c.1328_1333delCTGAGG p.E444_A445delEA Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM3922200 PHIP c.1250G>A p.G417E Substitution - Missense Skin COSM1027980 ADNP c.526C>A p.L176I Substitution - Missense Endometrium COSM5055836 KDM6B c.2519G>C p.G840A Substitution - Missense Stomach COSM1618140 SETD5_ENST00000402198 c.3582G>C p.K1194N Substitution - Missense Liver COSM4167276 TET2 c.? p.S1497P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5879073 EZH2 c.2195G>T p.R732I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1161251 SMARCA4 c.2917C>T p.R973W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5964935 SP100 c.1980C>T p.R660R Substitution - coding silent Breast COSM319394 CDYL c.143T>C p.V48A Substitution - Missense Large_intestine COSM685480 SFMBT2 c.2181G>T p.M727I Substitution - Missense Lung COSM2195917 BAZ1A c.777C>A p.F259L Substitution - Missense Large_intestine COSM4806626 TIF1 c.733G>T p.D245Y Substitution - Missense Pancreas COSM4150076 KDM5A c.3250G>A p.G1084R Substitution - Missense Ovary COSM4653429 IDH1 c.664C>T p.R222C Substitution - Missense Large_intestine COSM215435 SFMBT2 c.730G>T p.G244C Substitution - Missense Central_nervous_system COSM4400286 NCOA6 c.1023C>T p.N341N Substitution - coding silent Skin COSM4118113 DHX30 c.2344C>T p.R782W Substitution - Missense Stomach COSM5953216 CHD4 c.2974C>G p.R992G Substitution - Missense Oesophagus COSM308280 KMT2C c.9934C>T p.Q3312* Substitution - Nonsense Biliary_tract COSM1641347 CHD6 c.681C>T p.S227S Substitution - coding silent Stomach COSM2176199 SETD1B c.2127C>T p.I709I Substitution - coding silent Upper_aerodigestive_tract COSM196575 RSF1 c.2530C>T p.R844* Substitution - Nonsense Large_intestine COSM2221843 TRIM66 c.1647G>A p.G549G Substitution - coding silent Liver COSM1331580 TAF1L c.1435G>A p.D479N Substitution - Missense Ovary COSM4636545 KDM5D c.1942T>C p.L648L Substitution - coding silent Large_intestine COSM307760 TET2 c.? p.Q403* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM30371 KMT2D c.13227C>T p.A4409A Substitution - coding silent Kidney COSM4060950 GLYR1 c.1567A>G p.M523V Substitution - Missense Stomach COSM4019329 PRDM10 c.655G>T p.G219C Substitution - Missense Stomach COSM1485573 TET2 c.305_307delCTC p.S102_L103>F Complex - deletion inframe Breast COSM5589390 ZBTB4 c.1932_1946del15 p.D644_E648delDEEEE Deletion - In frame Skin COSM283994 PHF3 c.5872G>T p.D1958Y Substitution - Missense Large_intestine COSM21478 HNF1A c.618G>T p.W206C Substitution - Missense Liver COSM4682163 EZH2 c.667A>T p.I223F Substitution - Missense Large_intestine COSM4767394 ATRX c.5851G>A p.D1951N Substitution - Missense Adrenal_gland COSM3720601 ASXL1 c.1769_1770insT p.Y591fs*28 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4478807 EP400 c.2269C>T p.L757L Substitution - coding silent Skin COSM1743004 CHD6 c.5659A>C p.R1887R Substitution - coding silent Biliary_tract COSM30718 CXXC1 c.1420G>A p.E474K Substitution - Missense Upper_aerodigestive_tract COSM5423372 STK31 c.1906T>C p.L636L Substitution - coding silent Prostate COSM5490532 PBRM1 c.1069G>T p.E357* Substitution - Nonsense Biliary_tract COSM5465510 NCOA1 c.1993A>G p.N665D Substitution - Missense Large_intestine COSM3916067 SETMAR c.563C>T p.S188F Substitution - Missense Skin COSM468037 EP400 c.8226A>G p.Q2742Q Substitution - coding silent Prostate COSM3446223 PRMT3 c.738C>T p.F246F Substitution - coding silent Skin COSM1045505 SETD2 c.77G>T p.R26I Substitution - Missense Endometrium COSM5945121 EZH2 c.1702A>G p.K568E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5030975 ASXL1 c.2538_2539insT p.S847fs*4 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4618499 NSD1 c.3273T>G p.L1091L Substitution - coding silent Large_intestine COSM4793763 BAZ1B c.4409C>T p.P1470L Substitution - Missense Liver COSM4529111 ASXL3 c.706G>T p.E236* Substitution - Nonsense Skin COSM5654730 PRDM9 c.1180T>G p.C394G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM423035 BAP1 c.1271_1274delGGAA p.K425fs*4 Deletion - Frameshift Kidney COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5048989 KMT2D c.15706delG p.E5236fs*3 Deletion - Frameshift Oesophagus COSM3709528 HDAC4 c.716T>A p.F239Y Substitution - Missense Liver COSM5425863 BRD8 c.3381A>G p.P1127P Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4389932 PRMT1 c.235T>A p.C79S Substitution - Missense Pancreas COSM1413016 DIDO1 c.3938C>T p.P1313L Substitution - Missense Large_intestine COSM954453 CHD8 c.1505G>A p.R502H Substitution - Missense Endometrium COSM4488142 TCF19 c.327C>T p.P109P Substitution - coding silent Skin COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM99016 STK31 c.2831A>G p.D944G Substitution - Missense Stomach COSM4751600 ARID1A c.2834G>A p.G945E Substitution - Missense Skin COSM255691 BAZ2B c.417A>G p.L139L Substitution - coding silent Central_nervous_system COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5047116 KMT2D c.6181delC p.L2061fs*1 Deletion - Frameshift Oesophagus COSM1745969 BTAF1 c.3785T>C p.I1262T Substitution - Missense Urinary_tract COSM4411950 KDM6A c.? p.G526fs*2 Unknown Urinary_tract COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1416491 EP300 c.5331C>T p.G1777G Substitution - coding silent Large_intestine COSM727023 EP300 c.6489C>T p.P2163P Substitution - coding silent Skin COSM5619611 RBBP4 c.13G>A p.E5K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4452867 DHX30 c.2257A>C p.K753Q Substitution - Missense Skin COSM5974724 ZCWPW2 c.505A>C p.K169Q Substitution - Missense Upper_aerodigestive_tract COSM4571407 CHD1 c.4491T>A p.Y1497* Substitution - Nonsense Skin COSM4851685 SIRT5 c.520G>C p.E174Q Substitution - Missense Cervix COSM5415898 TET2 c.? p.N439fs Frameshift Haematopoietic_and_lymphoid_tissue COSM1163567 HDAC6 c.2116A>G p.N706D Substitution - Missense Pancreas COSM4765161 ZMYM4 c.1282_1283insA p.P431fs*9 Insertion - Frameshift Stomach COSM5980720 MGA c.8326T>G p.Y2776D Substitution - Missense Upper_aerodigestive_tract COSM377742 NCOA2 c.4042C>T p.Q1348* Substitution - Nonsense Endometrium COSM1297833 PRDM10 c.2362C>G p.L788V Substitution - Missense Urinary_tract COSM457984 TAF1 c.1312C>T p.P438S Substitution - Missense Skin COSM994273 LMNB2 c.1648G>A p.E550K Substitution - Missense Endometrium COSM2270967 TET2 c.3692T>C p.L1231P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM35802 TAF1 c.218G>A p.G73E Substitution - Missense Central_nervous_system COSM919479 JMJD1C c.3999G>T p.K1333N Substitution - Missense Endometrium COSM3600573 SMARCA5 c.1477C>T p.P493S Substitution - Missense Skin COSM3751836 ERCC6 c.3637A>G p.R1213G Substitution - Missense Soft_tissue COSM3732224 EP400 c.4069G>A p.A1357T Substitution - Missense Stomach COSM4909955 BTAF1 c.2178G>T p.R726S Substitution - Missense Liver COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM5779748 SETD2 c.2898G>A p.M966I Substitution - Missense Breast COSM337113 SMYD1 c.1216G>A p.A406T Substitution - Missense Lung COSM297385 PRMT3 c.745C>T p.Q249* Substitution - Nonsense Large_intestine COSM4725915 SHPRH c.908T>C p.V303A Substitution - Missense Large_intestine COSM936042 KDM2B c.1343C>T p.P448L Substitution - Missense Skin COSM4121663 PRDM5 c.198A>C p.E66D Substitution - Missense Stomach COSM1316875 BAZ2B c.3958G>C p.D1320H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3782224 TAF1L c.3719G>A p.R1240Q Substitution - Missense Pancreas COSM3594654 SETD2 c.5239C>T p.Q1747* Substitution - Nonsense Skin COSM1356360 KDM2A c.2495delC p.R834fs*3 Deletion - Frameshift Breast COSM1167994 ARID2 c.2128C>T p.P710S Substitution - Missense Skin COSM5905875 PHF21A c.662C>T p.P221L Substitution - Missense Skin COSM1411839 CHD6 c.2500C>T p.R834W Substitution - Missense Stomach COSM3870259 RSF1 c.2646T>A p.S882R Substitution - Missense Skin COSM1121575 KDM6A c.576A>G p.L192L Substitution - coding silent Endometrium COSM96488 TET2 c.3820C>T p.Q1274* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM220525 CTCF c.1364A>G p.H455R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM116472 TP53BP1 c.3692C>T p.P1231L Substitution - Missense Ovary COSM1117719 HCFC1 c.4396G>A p.G1466S Substitution - Missense Endometrium COSM488665 BRWD3 c.1845G>A p.Q615Q Substitution - coding silent Kidney COSM5591124 GLYATL1 c.737G>A p.G246E Substitution - Missense Skin COSM6000432 HDAC7 c.1570T>G p.Y524D Substitution - Missense Prostate COSM4204459 SETD8 c.465A>G p.Q155Q Substitution - coding silent Stomach COSM740713 SHPRH c.519G>T p.K173N Substitution - Missense Lung COSM4385371 KDM6A c.1310C>T p.A437V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4170118 TET2 c.2007_2011delAAAAG p.K670fs*9 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3971606 MBD5 c.2275G>A p.V759M Substitution - Missense Large_intestine COSM4912419 BAZ2B c.5587G>C p.E1863Q Substitution - Missense Liver COSM5055714 BPTF c.5246C>A p.P1749H Substitution - Missense Stomach COSM5364000 PHF12 c.2726C>T p.A909V Substitution - Missense Large_intestine COSM146934 ERCC6 c.2751C>T p.G917G Substitution - coding silent Soft_tissue COSM1751676 AIRE c.1118C>T p.A373V Substitution - Missense Urinary_tract COSM5587486 CHD1 c.2998G>A p.E1000K Substitution - Missense Skin COSM1125840 BRWD3 c.3226G>A p.E1076K Substitution - Missense Endometrium COSM282909 MTF2 c.69G>T p.K23N Substitution - Missense Large_intestine COSM1749157 TP53BP1 c.3056C>T p.S1019F Substitution - Missense Urinary_tract COSM1086204 JHDM1D c.1543C>T p.R515* Substitution - Nonsense Skin COSM4093199 NCOA1 c.985A>G p.R329G Substitution - Missense Stomach COSM25406 BAZ1A c.244C>T p.P82S Substitution - Missense Lung COSM1440572 EYA4 c.306C>A p.P102P Substitution - coding silent Large_intestine COSM5957833 PRDM12 c.1040_1041insCGC p.A359_H360insA Insertion - In frame Thyroid COSM218368 RBBP5 c.814C>T p.R272W Substitution - Missense Pancreas COSM96523 TET2 c.? p.V1718L Substitution - Missense Skin COSM435530 CTCF c.772A>G p.K258E Substitution - Missense Breast COSM5519605 SMARCA4 c.1397G>A p.R466H Substitution - Missense Biliary_tract COSM3780522 PHF8 c.1147C>T p.R383* Substitution - Nonsense Pancreas COSM5364732 SIRT6 c.739-7delT p.? Unknown Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3687594 SUV420H1 c.1569A>C p.R523S Substitution - Missense Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM53138 TET2 c.? p.V1371fs*76 Frameshift Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4640266 ASXL1 c.3851C>G p.P1284R Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4672096 CHD8 c.3863G>A p.R1288Q Substitution - Missense Large_intestine COSM971266 BRD7 c.830_831delAG p.E277fs*18 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5056622 SIRT2 c.15C>T p.D5D Substitution - coding silent Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM433906 TP53BP1 c.3483G>C p.L1161F Substitution - Missense Breast COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4590472 SIRT7 c.670A>C p.T224P Substitution - Missense Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4792076 TRIM28 c.1005G>T p.M335I Substitution - Missense Liver COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3763963 KDM4C c.2556C>T p.D852D Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2210718 ASH1L c.3595A>G p.S1199G Substitution - Missense Large_intestine COSM1075251 JARID2 c.2621G>A p.G874D Substitution - Missense Endometrium COSM3736164 HDAC5 c.1779C>G p.D593E Substitution - Missense Skin COSM353638 SMARCA2 c.3892G>T p.E1298* Substitution - Nonsense Lung COSM3988617 PRMT7 c.1575+1G>A p.? Unknown Kidney COSM1103008 TDRD7 c.1695G>A p.P565P Substitution - coding silent Large_intestine COSM4731985 TAF1L c.2247delC p.L750fs*33 Deletion - Frameshift Large_intestine COSM735670 PHF15 c.988G>A p.V330I Substitution - Missense Lung COSM3460963 ARID2 c.811C>T p.H271Y Substitution - Missense Skin COSM4736054 TRIM33 c.1903G>A p.V635I Substitution - Missense Large_intestine COSM302137 EP400 c.8181A>G p.Q2727Q Substitution - coding silent Kidney COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33732 IDH2 c.515G>T p.R172M Substitution - Missense Central_nervous_system COSM1752897 MBD4 c.1025C>G p.S342* Substitution - Nonsense Urinary_tract COSM4494670 PRDM7 c.437C>T p.P146L Substitution - Missense Skin COSM144611 KMT2D c.11101C>T p.Q3701* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1666675 SETBP1 c.? p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4172325 SETD2 c.4550delA p.K1517fs*127 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5505625 PRDM10 c.27T>C p.H9H Substitution - coding silent Biliary_tract COSM5939185 ZBTB38 c.1237C>T p.P413S Substitution - Missense Skin COSM1430229 CLOCK c.368_369insT p.L123fs*14 Insertion - Frameshift Large_intestine COSM5748877 BAZ2B c.1291C>T p.R431W Substitution - Missense Pancreas COSM4449049 MYST2 c.163+3delA p.? Unknown Large_intestine COSM1423519 SETD2 c.4561C>T p.R1521* Substitution - Nonsense Large_intestine COSM2772251 TAF1L c.2437C>T p.P813S Substitution - Missense Skin COSM5666920 ATRX c.3330T>A p.S1110S Substitution - coding silent Soft_tissue COSM5808624 CBX8 c.1072C>T p.L358L Substitution - coding silent Liver COSM3447500 PHF21A c.175C>T p.R59W Substitution - Missense Skin COSM3517983 HDAC5 c.3192C>T p.F1064F Substitution - coding silent Skin COSM2848402 GABRG1 c.603C>T p.S201S Substitution - coding silent Large_intestine COSM991 SMARCB1 c.141C>A p.Y47* Substitution - Nonsense Soft_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM29180 KDM6A c.3736+1G>A p.? Unknown Endometrium COSM37030 EZH2 c.1936T>C p.Y646H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM37030 EZH2 c.1936T>C p.Y646H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM36600 WHSC1 c.2754C>T p.F918F Substitution - coding silent Skin COSM29382 SMARCB1 c.1143delG p.A382fs*5 Deletion - Frameshift Central_nervous_system COSM43521 TET2 c.1843_1844insC p.L615fs*23 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM53036 EZH2 c.184C>T p.Q62* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM76699 TDG c.983C>T p.A328V Substitution - Missense Ovary COSM110707 ASXL1 c.1762C>T p.Q588* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM112087 TDG c.286_287insA p.I98fs*6 Insertion - Frameshift Skin COSM99759 IDH2 c.492G>A p.W164* Substitution - Nonsense Central_nervous_system COSM122501 DAXX c.1609C>A p.P537T Substitution - Missense Upper_aerodigestive_tract COSM126884 PRMT5 c.206C>G p.S69* Substitution - Nonsense Upper_aerodigestive_tract COSM221132 KMT2D c.15034C>T p.R5012* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Central_nervous_system COSM164051 RNF17 c.1011C>T p.Y337Y Substitution - coding silent Kidney COSM162846 NCOR1 c.6838G>A p.E2280K Substitution - Missense Breast COSM215433 SFMBT2 c.2071C>T p.R691W Substitution - Missense Pancreas COSM254672 EP300 c.4352A>T p.H1451L Substitution - Missense Urinary_tract COSM255075 KDM6A c.2104_2105insA p.H702fs*28 Insertion - Frameshift Urinary_tract COSM315120 SFMBT2 c.1307G>T p.R436L Substitution - Missense Soft_tissue COSM315769 TAF1 c.4517C>T p.A1506V Substitution - Missense Lung COSM322830 PRMT5 c.858C>A p.Y286* Substitution - Nonsense Lung COSM327313 PHF6 c.346C>T p.R116* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM316700 ZMYM3 c.162G>T p.S54S Substitution - coding silent Lung COSM346353 ARID2 c.2140G>T p.V714F Substitution - Missense Lung COSM403563 ATRX c.6178G>T p.E2060* Substitution - Nonsense Lung COSM458855 BMI1 c.742G>A p.E248K Substitution - Missense Cervix COSM479691 MECOM c.1408G>T p.V470L Substitution - Missense Kidney COSM473724 SMCHD1 c.923A>G p.D308G Substitution - Missense Kidney COSM487854 MSL3 c.1228G>T p.G410W Substitution - Missense Kidney COSM915017 TDRD1 c.1656C>T p.F552F Substitution - coding silent Large_intestine COSM679190 ACTA1 c.429C>G p.S143S Substitution - coding silent Lung COSM1027426 NCOA5 c.544C>T p.R182C Substitution - Missense Skin COSM1021107 CAMKMT c.933T>G p.L311L Substitution - coding silent Endometrium COSM1019123 NCOA1 c.346C>A p.L116I Substitution - Missense Endometrium COSM909556 SCMH1 c.119G>A p.R40H Substitution - Missense Endometrium COSM1007232 MBD5 c.2604C>T p.G868G Substitution - coding silent Endometrium COSM1041554 ACTL6A c.489T>G p.G163G Substitution - coding silent Endometrium COSM1066230 NSD1 c.3100T>G p.F1034V Substitution - Missense Endometrium COSM971429 CHD9 c.5062T>G p.F1688V Substitution - Missense Endometrium COSM1114023 ZBTB33 c.656C>A p.S219Y Substitution - Missense Endometrium COSM1124899 TAF1 c.3197G>T p.C1066F Substitution - Missense Endometrium COSM1117771 HCFC1 c.192G>T p.K64N Substitution - Missense Endometrium COSM1245599 ASXL1 c.1736T>G p.I579S Substitution - Missense Oesophagus COSM1163427 ARID1B c.6576A>C p.E2192D Substitution - Missense Pancreas COSM1200637 CDYL2 c.854G>A p.R285Q Substitution - Missense Large_intestine COSM1205371 EP300 c.1811G>A p.R604Q Substitution - Missense Skin COSM1179910 CBX7 c.227C>G p.P76R Substitution - Missense Prostate COSM1223953 RNF2 c.856G>A p.A286T Substitution - Missense Large_intestine COSM1187316 BAZ1B c.615A>C p.L205F Substitution - Missense Lung COSM1606141 ARID2 c.3817C>T p.R1273* Substitution - Nonsense Liver COSM1329948 KMT2C c.11241C>T p.N3747N Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1319061 PHIP c.3947_3948insA p.Y1316fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1467018 RBBP7 c.75_77delGAA p.K25delK Deletion - In frame Biliary_tract COSM1440585 EYA4 c.1848G>T p.M616I Substitution - Missense Large_intestine COSM1339921 ACTA1 c.48C>T p.S16S Substitution - coding silent Large_intestine COSM1342128 ZMYM4 c.1720G>A p.G574S Substitution - Missense Large_intestine COSM1357122 RSF1 c.2827C>T p.L943F Substitution - Missense Large_intestine COSM1349123 KAT6B c.3208_3210delGAA p.E1076delE Deletion - In frame Large_intestine COSM1490470 SMARCA1 c.262-1G>C p.? Unknown Breast COSM1470732 INOC1 c.4573C>A p.P1525T Substitution - Missense Prostate COSM1471908 ARID1B c.2167G>A p.A723T Substitution - Missense Prostate COSM1626220 ATRX c.595-1_613del20 p.? Unknown Central_nervous_system COSM1628625 HDAC7 c.494C>A p.P165H Substitution - Missense Liver COSM1700821 KDM4C c.1987G>A p.E663K Substitution - Missense Skin COSM1718926 GABRG1 c.812G>A p.G271E Substitution - Missense Skin COSM1717102 CTCF c.136G>A p.D46N Substitution - Missense Ovary COSM1664052 SCML2 c.1501C>T p.Q501* Substitution - Nonsense Kidney COSM1746978 ARID2 c.1062G>A p.L354L Substitution - coding silent Urinary_tract COSM1747977 TDRD5 c.1172C>T p.P391L Substitution - Missense Urinary_tract COSM2818116 BRWD1 c.5383C>T p.P1795S Substitution - Missense Upper_aerodigestive_tract COSM3357959 SHPRH c.4178G>A p.R1393Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3489640 SCMH1 c.750C>T p.S250S Substitution - coding silent Skin COSM3433182 KIAA2026_ENST00000399933 c.2398C>T p.R800W Substitution - Missense Large_intestine COSM3441504 BTAF1 c.3061C>T p.L1021L Substitution - coding silent Skin COSM3474975 ASH1L c.2203G>C p.E735Q Substitution - Missense Skin COSM3614496 NSD1 c.1691C>T p.A564V Substitution - Missense Skin COSM3587825 HDAC11 c.107C>T p.P36L Substitution - Missense Skin COSM3558099 PHF6 c.491A>G p.K164R Substitution - Missense Skin COSM3560205 SCML2 c.1880A>C p.D627A Substitution - Missense Skin COSM3546359 CHD6 c.4561C>T p.P1521S Substitution - Missense Skin COSM3647910 ELP3 c.931C>T p.R311C Substitution - Missense Skin COSM3699611 EHMT1 c.1768G>A p.V590I Substitution - Missense Large_intestine COSM3693552 NCOA3 c.1238G>A p.S413N Substitution - Missense Large_intestine COSM3670330 SETD2 c.349C>T p.R117* Substitution - Nonsense Breast COSM3726649 TP53BP1 c.857A>G p.E286G Substitution - Missense Lung COSM3759724 MBD4 c.817G>A p.A273T Substitution - Missense Large_intestine COSM3793173 ZMYM5 c.670C>T p.R224C Substitution - Missense Urinary_tract COSM3837132 BAZ2B c.2192C>G p.S731C Substitution - Missense Cervix COSM3820861 CHD3 c.2284G>A p.E762K Substitution - Missense Cervix COSM3920982 ARID1B c.3462C>A p.T1154T Substitution - coding silent Skin COSM3923214 KMT2C c.919C>T p.H307Y Substitution - Missense Skin COSM3912958 PHF21B c.128G>A p.G43E Substitution - Missense Skin COSM3905438 WDR5 c.60G>A p.S20S Substitution - coding silent Stomach COSM3962507 SP140 c.180A>G p.P60P Substitution - coding silent Lung COSM3976124 POGZ c.1570G>T p.G524C Substitution - Missense Lung COSM3970330 JMJD6 c.1033G>A p.D345N Substitution - Missense Central_nervous_system COSM4041988 ARID2 c.1547T>C p.V516A Substitution - Missense Stomach COSM4054840 TP53BP1 c.2036T>A p.L679H Substitution - Missense Stomach COSM3986979 KMT2D c.4481T>C p.L1494P Substitution - Missense Kidney COSM4101921 AIRE c.967C>A p.L323M Substitution - Missense Stomach COSM4069624 ZBTB4 c.2045C>T p.A682V Substitution - Missense Stomach COSM4072227 SETBP1 c.400A>G p.K134E Substitution - Missense Stomach COSM4060194 SRCAP c.3174C>G p.P1058P Substitution - coding silent Stomach COSM4135362 SETD2 c.1051C>T p.Q351* Substitution - Nonsense Pancreas COSM4142777 PYGO2 c.945T>G p.G315G Substitution - coding silent Thyroid COSM4189245 KDM5C c.426_427insA p.Y143fs*23 Insertion - Frameshift Kidney COSM4526929 PHF8 c.1321G>A p.E441K Substitution - Missense Skin COSM4525155 PRDM9 c.1312G>A p.E438K Substitution - Missense Skin COSM4436358 EP400 c.6047T>A p.M2016K Substitution - Missense Oesophagus COSM4521857 GABRG1 c.1134G>A p.M378I Substitution - Missense Skin COSM4437309 CBX8 c.877G>T p.E293* Substitution - Nonsense Oesophagus COSM4520095 L3MBTL3 c.1041G>C p.K347N Substitution - Missense Skin COSM4593170 LMNA c.1691A>C p.H564P Substitution - Missense Upper_aerodigestive_tract COSM4458113 EYA1 c.1071C>T p.S357S Substitution - coding silent Skin COSM4483255 MBD5 c.2688C>T p.H896H Substitution - coding silent Skin COSM4770177 PBRM1 c.4576+5_4576+6insGAG p.? Unknown Soft_tissue COSM4689717 HDAC8 c.1A>C p.M1L Substitution - Missense Large_intestine COSM4765107 ARID1A c.5542_5543insG p.D1850fs*4 Insertion - Frameshift Stomach COSM4629415 DIDO1 c.2481G>A p.A827A Substitution - coding silent Large_intestine COSM4608058 KIAA2026_ENST00000399933 c.1730G>T p.C577F Substitution - Missense Adrenal_gland COSM4634443 KDM4B c.1741G>T p.G581W Substitution - Missense Large_intestine COSM4791793 TDRD6 c.2041G>A p.A681T Substitution - Missense Liver COSM4787711 SETD5_ENST00000402198 c.3905C>A p.P1302H Substitution - Missense Liver COSM4889753 ATF7IP c.3566G>T p.S1189I Substitution - Missense Upper_aerodigestive_tract COSM4832834 SP100 c.1783G>A p.D595N Substitution - Missense Cervix COSM4841000 EP400 c.1848G>A p.S616S Substitution - coding silent Cervix COSM4960320 TDRD10 c.590G>A p.G197E Substitution - Missense Liver COSM4986035 AIRE c.1528G>A p.A510T Substitution - Missense Soft_tissue COSM5045035 TBL1XR1 c.974G>A p.C325Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5056618 SIRT2 c.1120C>T p.P374S Substitution - Missense Stomach COSM5061897 PHF3 c.3818G>A p.R1273H Substitution - Missense Stomach COSM5062016 ACTL6B c.680G>A p.R227Q Substitution - Missense Stomach COSM5040351 AP001011.3_ENST00000320876 c.784G>A p.V262I Substitution - Missense Liver COSM5408366 TRRAP c.9384C>T p.A3128A Substitution - coding silent Skin COSM5367013 SMARCA1 c.399T>C p.D133D Substitution - coding silent Large_intestine COSM5389237 DOT1L c.2496C>T p.P832P Substitution - coding silent Skin COSM5511222 CBX6 c.425delG p.G142fs*23 Deletion - Frameshift Biliary_tract COSM5509803 MSH6 c.3187C>A p.L1063M Substitution - Missense Biliary_tract COSM5480400 SETBP1 c.289A>C p.N97H Substitution - Missense Large_intestine COSM5434258 KMT2A c.3462G>T p.R1154R Substitution - coding silent Oesophagus COSM5452283 TDRD5 c.658C>A p.P220T Substitution - Missense Large_intestine COSM5624420 KDM4B c.1603delC p.P535fs*36 Deletion - Frameshift Oesophagus COSM5722283 BAHD1 c.294G>A p.K98K Substitution - coding silent Skin COSM5722740 ASXL3 c.2525C>T p.S842L Substitution - Missense Skin COSM5621295 MTA2 c.847T>C p.Y283H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5583354 CBX7 c.693C>T p.T231T Substitution - coding silent Skin COSM5611068 TRRAP c.646delC p.P216fs*7 Deletion - Frameshift Skin COSM5700482 HDAC11 c.375G>A p.G125G Substitution - coding silent Soft_tissue COSM5714930 RBBP4 c.40G>A p.E14K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5561744 TCF20 c.5209C>G p.P1737A Substitution - Missense Prostate COSM5785255 BRWD3 c.2874G>T p.R958R Substitution - coding silent Breast COSM5806815 ASH1L c.3448G>T p.A1150S Substitution - Missense Liver COSM5945452 EP300 c.673C>T p.Q225* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5948804 KMT2D c.8137delG p.A2713fs*21 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5948954 CREBBP c.4308T>A p.S1436R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5913000 BTAF1 c.4498C>T p.L1500F Substitution - Missense Skin COSM5896254 MGA c.2093-1G>A p.? Unknown Skin COSM5964390 EHMT1 c.731-2A>T p.? Unknown Breast COSM5987121 KDM6A c.1921C>T p.Q641* Substitution - Nonsense Salivary_gland COSM5980968 SETD1A c.4073G>A p.R1358Q Substitution - Missense Upper_aerodigestive_tract COSM6013275 ATAD2 c.536+1G>A p.? Unknown Skin COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41849 TET2 c.651_652insC p.V218fs*7 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4167260 TET2 c.? p.G1218fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52946 DNMT3A c.? p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43413 TET2 c.?_?ins? p.?fs Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5607839 ARID1A c.6660C>T p.N2220N Substitution - coding silent Skin COSM3402354 CHD9 c.197C>A p.T66N Substitution - Missense Central_nervous_system COSM5993374 TDRD5 c.51A>T p.S17S Substitution - coding silent Prostate COSM4534419 SFMBT1 c.2086G>A p.G696R Substitution - Missense Skin COSM434990 JMJD5 c.1204G>A p.V402M Substitution - Missense Large_intestine COSM403140 EHMT1 c.2710G>T p.V904L Substitution - Missense Lung COSM86082 KMT2C c.2418C>G p.S806S Substitution - coding silent Soft_tissue COSM4505091 CHD9 c.6848C>T p.S2283L Substitution - Missense Skin COSM5365267 KDM4B c.678C>A p.G226G Substitution - coding silent Large_intestine COSM1238712 DNMT3B c.1183G>A p.A395T Substitution - Missense Lung COSM303449 TRIM33 c.2958delT p.P987fs*11 Deletion - Frameshift Central_nervous_system COSM245910 KAT6B c.802G>T p.E268* Substitution - Nonsense Prostate COSM5515311 SFMBT2 c.66C>T p.L22L Substitution - coding silent Biliary_tract COSM4794860 SETD2 c.5922+1G>A p.? Unknown Liver COSM1659007 SMARCA2 c.3476G>T p.R1159L Substitution - Missense Salivary_gland COSM3988681 CDYL2 c.837C>A p.I279I Substitution - coding silent Kidney COSM1645714 CHD4 c.512A>C p.D171A Substitution - Missense Kidney COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Large_intestine COSM4005299 TBL1XR1 c.134C>T p.P45L Substitution - Missense Urinary_tract COSM232417 GLYATL1 c.280G>A p.E94K Substitution - Missense Skin COSM3733522 NCOR1 c.59A>C p.Y20S Substitution - Missense Upper_aerodigestive_tract COSM218910 KMT2C c.12507_12508delAT p.F4170fs*11 Deletion - Frameshift Pancreas COSM3733522 NCOR1 c.59A>C p.Y20S Substitution - Missense Upper_aerodigestive_tract COSM3670871 KDM2A c.1409C>A p.S470Y Substitution - Missense Prostate COSM4153755 PHF14 c.1604C>G p.A535G Substitution - Missense Ovary COSM988857 CXXC1 c.1754G>A p.R585H Substitution - Missense Biliary_tract COSM4019726 NCOA5 c.1606G>C p.D536H Substitution - Missense Oesophagus COSM1303820 L3MBTL4 c.123T>G p.S41R Substitution - Missense Urinary_tract COSM4833511 SIRT1 c.686C>G p.S229* Substitution - Nonsense Cervix COSM5469907 SETD1B c.253C>A p.P85T Substitution - Missense Large_intestine COSM4850889 PHIP c.4427C>T p.S1476F Substitution - Missense Cervix COSM5739622 ARID2 c.4084T>C p.C1362R Substitution - Missense Small_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Breast COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM4560971 EYA2 c.864G>A p.G288G Substitution - coding silent Skin COSM1665365 BAG6 c.779delA p.N260fs*57 Deletion - Frameshift Kidney COSM1478724 GTF3C1 c.1609G>A p.G537R Substitution - Missense Breast COSM3365205 DHX30 c.3218G>A p.W1073* Substitution - Nonsense Kidney COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Soft_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Skin COSM1407124 DNMT3A c.15C>T p.P5P Substitution - coding silent Large_intestine COSM423153 PBRM1 c.4110delC p.S1371fs*13 Deletion - Frameshift Kidney COSM133583 ASXL1 c.3503G>C p.S1168T Substitution - Missense Upper_aerodigestive_tract COSM331892 ASH1L c.3276A>G p.L1092L Substitution - coding silent Lung COSM3578864 SP110 c.953T>C p.V318A Substitution - Missense Skin COSM5977174 EHMT1 c.109A>G p.N37D Substitution - Missense Upper_aerodigestive_tract COSM1265548 SHPRH c.2057C>A p.A686E Substitution - Missense Oesophagus COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM4442908 ZMYND8 c.2470C>T p.P824S Substitution - Missense Large_intestine COSM1209512 HELLS c.347T>C p.I116T Substitution - Missense Large_intestine COSM5358261 JHDM1D c.2243C>T p.T748M Substitution - Missense Large_intestine COSM5927159 KDM1A c.412G>A p.E138K Substitution - Missense Skin COSM5517574 POGZ c.1990G>C p.E664Q Substitution - Missense Biliary_tract COSM970536 CREBBP c.7089G>A p.P2363P Substitution - coding silent Endometrium COSM4672076 CHD6 c.707G>A p.R236Q Substitution - Missense Large_intestine COSM1007245 EPC2 c.937T>C p.C313R Substitution - Missense Endometrium COSM5888049 KIAA1045 c.98C>T p.S33F Substitution - Missense Upper_aerodigestive_tract COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM2952696 TET2 c.679_680insA p.T229fs*25 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1666833 CBX4 c.1514T>C p.V505A Substitution - Missense Large_intestine COSM5703626 ERCC6 c.1676C>A p.S559* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3604094 GABRG1 c.613G>A p.E205K Substitution - Missense Skin COSM88744 CREBBP c.4507T>C p.Y1503H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM254539 ARID1A c.6381C>G p.I2127M Substitution - Missense Urinary_tract COSM4778017 EPC1 c.1157T>C p.L386S Substitution - Missense Prostate COSM34212 ASXL1 c.2385delC p.W796fs*22 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5926134 PRMT2 c.831-7C>T p.? Unknown Skin COSM3525862 SETBP1 c.2225C>T p.P742L Substitution - Missense Skin COSM3749702 ACTR5 c.18C>T p.F6F Substitution - coding silent Large_intestine COSM3750192 PHF2 c.2964G>T p.P988P Substitution - coding silent Lung COSM87001 DNMT3A c.2644C>A p.R882S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3770480 SRCAP c.9565C>T p.R3189* Substitution - Nonsense Soft_tissue COSM3307315 HDAC9 c.2820G>A p.T940T Substitution - coding silent Skin COSM4728430 AP001011.3_ENST00000320876 c.3584C>G p.S1195* Substitution - Nonsense Large_intestine COSM24300 CHD8 c.3275G>A p.R1092H Substitution - Missense Breast COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Central_nervous_system COSM3514559 NCOR1 c.3429T>C p.S1143S Substitution - coding silent Skin COSM3890608 CBX8 c.370C>T p.L124F Substitution - Missense Skin COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5611425 BAP1 c.504_510delCCACTTT p.F168fs*17 Deletion - Frameshift Pleura COSM35719 KAT6B c.4539G>A p.Q1513Q Substitution - coding silent Central_nervous_system COSM4585418 BRD8 c.3033G>A p.K1011K Substitution - coding silent Bone COSM2805043 BAHCC1 c.7453C>T p.R2485C Substitution - Missense Large_intestine COSM3510043 BRD7 c.147C>T p.F49F Substitution - coding silent Skin COSM3760359 PRDM5 c.681A>G p.L227L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4445227 CHD8 c.5607delC p.D1870fs*21 Deletion - Frameshift Large_intestine COSM274532 CHD3 c.2896C>T p.R966W Substitution - Missense Large_intestine COSM913362 MTF2 c.16G>T p.G6W Substitution - Missense Endometrium COSM1675366 KAT6B c.4470G>T p.K1490N Substitution - Missense Large_intestine COSM1334940 HDGF c.149delT p.F50fs*105 Deletion - Frameshift Large_intestine COSM4636478 PRDM8 c.927C>G p.G309G Substitution - coding silent Large_intestine COSM84634 EPC2 c.300C>A p.F100L Substitution - Missense Pancreas COSM1163566 SUV39H1 c.593C>T p.A198V Substitution - Missense Pancreas COSM5415256 MSH6 c.2372G>A p.R791H Substitution - Missense Endometrium COSM5346934 ARID1A c.3948delG p.M1318fs*163 Deletion - Frameshift Endometrium COSM5429009 RBBP7 c.87T>G p.F29L Substitution - Missense Oesophagus COSM4489621 MBD5 c.3501C>T p.P1167P Substitution - coding silent Skin COSM5758881 ATAD2B_ENST00000238789 c.664G>A p.D222N Substitution - Missense Bone COSM4717453 PRDM11 c.1458C>A p.F486L Substitution - Missense Large_intestine COSM144571 PHF6 c.933_934insT p.K312fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4609818 DAXX c.1536_1537insA p.Q513fs*34 Insertion - Frameshift Adrenal_gland COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5621912 SRCAP c.7846A>G p.I2616V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4933059 SMEK2 c.664G>A p.V222I Substitution - Missense Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5721303 TAF1L c.3585G>C p.G1195G Substitution - coding silent Skin COSM4801580 KMT2D c.9629A>T p.Q3210L Substitution - Missense Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24361 IDH2 c.880G>A p.V294M Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM36166 ASXL1 c.1772_1773insA p.Y591fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4836073 ATAD2 c.1022G>A p.R341K Substitution - Missense Cervix COSM937151 EP400 c.2659G>A p.A887T Substitution - Missense Large_intestine COSM4384257 EZH2 c.1978G>A p.G660R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1319426 SMC1A c.287G>A p.R96H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4936667 POGZ c.98A>G p.Y33C Substitution - Missense Liver COSM255009 KDM6A c.4129C>T p.Q1377* Substitution - Nonsense Urinary_tract COSM3140380 BRD9 c.351C>T p.G117G Substitution - coding silent Skin COSM4552870 SMARCD3 c.534G>C p.L178L Substitution - coding silent Skin COSM5805212 L3MBTL4 c.106A>T p.S36C Substitution - Missense Liver COSM1166733 TIF1 c.2652T>A p.H884Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM69621 ALKBH1 c.424G>A p.D142N Substitution - Missense Ovary COSM3953542 PHRF1 c.4105G>A p.D1369N Substitution - Missense Lung COSM5417637 CHD2 c.724_725insT p.S242fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5684604 CDYL2 c.1008-1G>T p.? Unknown Soft_tissue COSM163708 PRDM16 c.2953G>T p.D985Y Substitution - Missense Prostate COSM3135586 LMNB1 c.863G>A p.S288N Substitution - Missense Large_intestine COSM4097813 NCOA6 c.894G>A p.Q298Q Substitution - coding silent Stomach COSM5364600 L3MBTL4 c.462T>A p.G154G Substitution - coding silent Large_intestine COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2818190 BRWD1 c.3537T>C p.L1179L Substitution - coding silent Bone COSM5660716 POGZ c.3840G>A p.W1280* Substitution - Nonsense Soft_tissue COSM4986003 ZMYM1 c.3221T>C p.L1074S Substitution - Missense Soft_tissue COSM5407252 STK31 c.1169T>G p.L390R Substitution - Missense Skin COSM3863738 TDRD5 c.2020C>T p.P674S Substitution - Missense Skin COSM2961664 MYST3 c.5336C>T p.S1779F Substitution - Missense Skin COSM4188694 ACTR6 c.109C>G p.L37V Substitution - Missense Kidney COSM222989 NIPBL c.3154C>T p.P1052S Substitution - Missense Skin COSM5383251 RTF1 c.676C>T p.Q226* Substitution - Nonsense Skin COSM3108873 GTF3C1 c.3655C>T p.R1219W Substitution - Missense Large_intestine COSM1412235 ZMYND8 c.2119A>C p.K707Q Substitution - Missense Large_intestine COSM5351728 TET2 c.2020C>A p.Q674K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3545804 PHF20 c.2172G>T p.L724L Substitution - coding silent Skin COSM471654 SETD1A c.3198G>A p.E1066E Substitution - coding silent Kidney COSM363359 EP300 c.4880G>A p.R1627Q Substitution - Missense Lung COSM1685359 SETBP1 c.? p.G870D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4565351 TRIM33 c.2005_2006CC>TT p.P669F Substitution - Missense Skin COSM100082 KMT2C c.8390_8390delA p.K2797fs*26 Deletion - Frameshift Large_intestine COSM22018 NCOA2 c.1408C>T p.P470S Substitution - Missense Skin COSM975879 NCOR1 c.3099G>A p.P1033P Substitution - coding silent Stomach COSM3295049 NCOA3 c.2931G>A p.Q977Q Substitution - coding silent Stomach COSM3780550 TAF1 c.3860C>G p.A1287G Substitution - Missense Pancreas COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM188304 MYST3 c.131G>A p.R44H Substitution - Missense Breast COSM5020773 ATRX c.2595C>G p.H865Q Substitution - Missense Soft_tissue COSM5697982 NIPBL c.6688A>G p.K2230E Substitution - Missense Soft_tissue COSM4991480 SMARCB1 c.127C>T p.L43L Substitution - coding silent Skin COSM4984825 EZH2 c.? p.R213H Substitution - Missense Lung COSM3304610 KMT2C c.1014G>A p.S338S Substitution - coding silent Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3861461 ATAT1 c.453G>A p.P151P Substitution - coding silent Prostate COSM5475672 SMARCD1 c.1195C>T p.R399W Substitution - Missense Large_intestine COSM1401273 HAT1 c.905G>A p.R302Q Substitution - Missense Large_intestine COSM2948458 KAT2B c.1843G>A p.G615R Substitution - Missense Large_intestine COSM22615 MEN1 c.412delG p.A138fs*47 Deletion - Frameshift Pancreas COSM21486 HNF1A c.872delC p.P291fs*51 Deletion - Frameshift Liver COSM3450650 PHRF1 c.3434C>T p.P1145L Substitution - Missense Skin COSM5912634 KMT2C c.3239C>T p.P1080L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3736469 MYST3 c.401T>C p.L134S Substitution - Missense Large_intestine COSM4598912 SMCHD1 c.1489G>T p.A497S Substitution - Missense Upper_aerodigestive_tract COSM5515044 NIPBL c.3439C>T p.R1147* Substitution - Nonsense Biliary_tract COSM1125891 BRWD3 c.715G>A p.A239T Substitution - Missense Endometrium COSM5739637 KMT2D c.9121C>T p.Q3041* Substitution - Nonsense Small_intestine COSM4611905 NCOA1 c.3093delT p.S1033fs*12 Deletion - Frameshift Large_intestine COSM5724242 MYST1 c.715G>A p.E239K Substitution - Missense Skin COSM4732911 TDRD6 c.938C>T p.P313L Substitution - Missense Large_intestine COSM5096867 PRMT2 c.849_850insT p.S286fs*6 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM88760 CREBBP c.3517C>T p.R1173* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM86973 IKZF1 c.161-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5881885 TRDMT1 c.460-1G>T p.? Unknown Large_intestine COSM993 SMARCB1 c.601C>T p.R201* Substitution - Nonsense Central_nervous_system COSM144496 IDH2 c.? p.R172S Substitution - Missense Central_nervous_system COSM2006923 KMT2D c.9672G>A p.P3224P Substitution - coding silent Prostate COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1169582 PBRM1 c.1750_1752delG p.(E584)fs*? Deletion - Frameshift Kidney COSM5723576 KDM3A c.436C>T p.L146F Substitution - Missense Skin COSM5979002 C5orf35 c.868_869insT p.S292fs*>9 Insertion - Frameshift Upper_aerodigestive_tract COSM5051886 CHD4 c.1786C>T p.R596* Substitution - Nonsense Stomach COSM3911312 CHD6 c.6678C>T p.S2226S Substitution - coding silent Skin COSM3527073 L3MBTL4 c.1156G>A p.G386R Substitution - Missense Skin COSM5953658 GATAD2A c.1146+10G>A p.? Unknown Upper_aerodigestive_tract COSM4659109 ACTL6A c.505A>G p.I169V Substitution - Missense Large_intestine COSM750802 NCOA2 c.1093C>T p.Q365* Substitution - Nonsense Lung COSM5620937 HDAC5 c.1819G>A p.E607K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM172758 CREBBP c.7030C>T p.R2344W Substitution - Missense Stomach COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Central_nervous_system COSM4913065 TDRD5 c.1467G>C p.R489R Substitution - coding silent Liver COSM4592007 RAI1 c.841_843delCAG p.Q291delQ Deletion - In frame Upper_aerodigestive_tract COSM1676616 KDM5A c.3365A>G p.D1122G Substitution - Missense Lung COSM41879 TET2 c.? p.E961* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4680496 EHMT1 c.2869G>A p.A957T Substitution - Missense Large_intestine COSM4161065 RING1 c.615A>G p.G205G Substitution - coding silent Thyroid COSM3393728 CHD1 c.373-6C>G p.? Unknown Pancreas COSM2950010 BRPF1 c.1280G>A p.R427Q Substitution - Missense Large_intestine COSM1583134 DNMT3A c.2696G>A p.R899H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Upper_aerodigestive_tract COSM110722 BAP1 c.1768C>T p.Q590* Substitution - Nonsense Skin COSM3900257 MYST3 c.331G>T p.A111S Substitution - Missense Stomach COSM5773160 L3MBTL4 c.653T>C p.V218A Substitution - Missense Breast COSM4579172 CTCF c.1861G>A p.D621N Substitution - Missense Bone COSM5798393 BMI1 c.268G>A p.E90K Substitution - Missense Breast COSM4951669 KDM2A c.2125G>T p.D709Y Substitution - Missense Liver COSM4448121 BAHCC1 c.4400C>T p.P1467L Substitution - Missense Skin COSM6003183 AP001011.3_ENST00000320876 c.5526G>A p.A1842A Substitution - coding silent Prostate COSM4104427 EP300 c.620A>G p.Y207C Substitution - Missense Stomach COSM2001161 EP400 c.8379G>A p.P2793P Substitution - coding silent Large_intestine COSM5411137 UHRF2 c.2022C>T p.A674A Substitution - coding silent Skin COSM4591023 KMT2C c.871C>T p.L291F Substitution - Missense Upper_aerodigestive_tract COSM140296 SMARCB1 c.325G>A p.A109T Substitution - Missense Skin COSM1030679 BRWD1 c.5781T>G p.I1927M Substitution - Missense Endometrium COSM6000931 ZMYM2 c.2056G>C p.E686Q Substitution - Missense Prostate COSM469786 CHD8 c.4405C>A p.R1469S Substitution - Missense Kidney COSM3879529 KMT2C c.10852T>A p.S3618T Substitution - Missense Stomach COSM4745731 DNMT1 c.3739C>G p.L1247V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3596983 ATXN7 c.560C>T p.S187F Substitution - Missense Skin COSM366313 SMYD1 c.277A>T p.I93F Substitution - Missense Lung COSM2949900 MINA c.550G>A p.E184K Substitution - Missense Large_intestine COSM1233068 YY1 c.1124G>A p.R375Q Substitution - Missense Large_intestine COSM4700965 MBD2 c.624C>T p.F208F Substitution - coding silent Large_intestine COSM3858853 SHPRH c.2755G>A p.E919K Substitution - Missense Stomach COSM1377017 GTF3C1 c.5963G>A p.R1988H Substitution - Missense Breast COSM2961755 MYST3 c.575C>T p.S192F Substitution - Missense Large_intestine COSM1125834 BRWD3 c.3359C>A p.P1120H Substitution - Missense Endometrium COSM4182202 BTAF1 c.4864-9C>T p.? Unknown Biliary_tract COSM1378945 CTCF c.540_541insG p.E182fs*9 Insertion - Frameshift Large_intestine COSM352596 CREBBP c.4648G>C p.E1550Q Substitution - Missense Lung COSM3418037 POGZ c.3319T>G p.F1107V Substitution - Missense Large_intestine COSM3772894 CHD8 c.3937G>A p.A1313T Substitution - Missense Pancreas COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM466566 PRDM10 c.465G>A p.T155T Substitution - coding silent Kidney COSM88748 CREBBP c.4337G>A p.R1446H Substitution - Missense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1124892 TAF1 c.2605C>T p.R869C Substitution - Missense Stomach COSM5679344 ZMYM4 c.762G>T p.L254F Substitution - Missense Soft_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3668829 BAZ2B c.1790A>G p.D597G Substitution - Missense Liver COSM4768835 TRIM24 c.3105C>T p.P1035P Substitution - coding silent Biliary_tract COSM3706556 MGA c.3832A>G p.N1278D Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1087659 KMT2C c.947C>G p.T316S Substitution - Missense Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4104438 EP300 c.5459A>G p.H1820R Substitution - Missense Stomach COSM1032626 SMARCB1 c.781C>T p.R261C Substitution - Missense Endometrium COSM1737545 TET2 c.4069G>C p.E1357Q Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3710804 MBD6 c.2466C>T p.L822L Substitution - coding silent Upper_aerodigestive_tract COSM1021311 MSH6 c.3852G>A p.T1284T Substitution - coding silent Bone COSM51224 ARID1A c.5202T>A p.Y1734* Substitution - Nonsense Kidney COSM4568703 TAF1L c.1280T>G p.L427R Substitution - Missense Skin COSM2889260 ASXL1 c.1787delG p.I597fs*106 Deletion - Frameshift Soft_tissue COSM916609 SUV39H2 c.260G>T p.R87I Substitution - Missense Endometrium COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Endometrium COSM447400 SETD7 c.373G>A p.D125N Substitution - Missense Breast COSM3702609 CLOCK c.2211A>G p.A737A Substitution - coding silent Liver COSM4938192 NCOA7 c.617T>C p.V206A Substitution - Missense Liver COSM3376944 RBBP5 c.1231C>T p.P411S Substitution - Missense Pancreas COSM3723035 PHF2 c.2955T>C p.S985S Substitution - coding silent Prostate COSM1159091 ATF7IP c.2418G>A p.V806V Substitution - coding silent Pancreas COSM4434078 NIPBL c.3730G>T p.E1244* Substitution - Nonsense Oesophagus COSM4609606 KAT2A c.1946C>T p.T649M Substitution - Missense Adrenal_gland COSM3674058 SETD5_ENST00000402198 c.2856C>A p.P952P Substitution - coding silent Prostate COSM255312 SMARCA4 c.3727C>T p.R1243W Substitution - Missense Pancreas COSM21039 TAF1L c.219G>T p.L73L Substitution - coding silent Skin COSM1023551 SMYD1 c.358G>A p.G120R Substitution - Missense Endometrium COSM5809184 CHD6 c.7874C>A p.S2625Y Substitution - Missense Liver COSM2743738 JMJD6 c.31G>A p.E11K Substitution - Missense Cervix COSM4839880 PRDM9 c.1265G>T p.R422I Substitution - Missense Cervix COSM4796125 ASXL1 c.675G>A p.Q225Q Substitution - coding silent Liver COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Central_nervous_system COSM24599 SMARCB1 c.749_750insC p.D251fs*30 Insertion - Frameshift Soft_tissue COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM36391 SMARCB1 c.569_570ins18 p.? Unknown Central_nervous_system COSM43526 TET2 c.4624C>T p.Q1542* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM51441 ARID1A c.5161C>T p.R1721* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM107494 TRRAP c.2165C>T p.S722F Substitution - Missense Skin COSM97849 HDAC6 c.619A>T p.M207L Substitution - Missense Upper_aerodigestive_tract COSM97045 ASXL1 c.2400T>G p.D800E Substitution - Missense Bone COSM122020 TDG c.387C>A p.T129T Substitution - coding silent Stomach COSM138554 DAXX c.1763C>T p.S588F Substitution - Missense Skin COSM159237 ATAD2B_ENST00000238789 c.1839C>G p.I613M Substitution - Missense Breast COSM189226 MYST2 c.380G>A p.R127Q Substitution - Missense Endometrium COSM231571 DNMT3A c.1502A>G p.N501S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM254538 ARID1A c.5975C>G p.S1992* Substitution - Nonsense Urinary_tract COSM269098 EP300 c.2512C>T p.R838C Substitution - Missense Large_intestine COSM253092 RUVBL1 c.514-3delT p.? Unknown Skin COSM255878 SMARCA4 c.3694G>T p.G1232C Substitution - Missense Central_nervous_system COSM258061 SMARCD3 c.465G>A p.A155A Substitution - coding silent Endometrium COSM301033 EYA2 c.463G>A p.G155S Substitution - Missense Small_intestine COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Large_intestine COSM307750 PBRM1 c.3123+1G>A p.? Unknown Kidney COSM366858 BAZ1B c.730A>G p.T244A Substitution - Missense Lung COSM366167 SETD3 c.838A>T p.T280S Substitution - Missense Lung COSM376057 SP110 c.986C>T p.S329F Substitution - Missense Lung COSM371245 EPC1 c.1094A>G p.N365S Substitution - Missense Lung COSM422793 PBRM1 c.2761C>T p.R921* Substitution - Nonsense Endometrium COSM455884 KIAA1045 c.1162C>T p.R388C Substitution - Missense Breast COSM453957 ATAD2 c.3245G>C p.R1082T Substitution - Missense Breast COSM972493 CTCF c.1516C>T p.Q506* Substitution - Nonsense Endometrium COSM983329 BPTF c.5003C>T p.T1668M Substitution - Missense Endometrium COSM483421 EYA4 c.1758A>G p.E586E Substitution - coding silent Kidney COSM744656 SND1 c.1494A>G p.E498E Substitution - coding silent Lung COSM909528 SCMH1 c.1760A>G p.K587R Substitution - Missense Endometrium COSM925908 PRMT3 c.1277C>T p.T426M Substitution - Missense Endometrium COSM894495 TTF2 c.2804C>T p.S935L Substitution - Missense Endometrium COSM946193 RNF17 c.749C>T p.S250L Substitution - Missense Skin COSM990750 SMARCA4 c.2758G>A p.E920K Substitution - Missense Endometrium COSM1111308 PHF2 c.3089G>A p.G1030D Substitution - Missense Endometrium COSM1125403 ATRX c.6305T>G p.F2102C Substitution - Missense Endometrium COSM1138153 PHF16 c.619C>T p.R207W Substitution - Missense Kidney COSM1251473 ERCC6 c.3862C>T p.R1288* Substitution - Nonsense Oesophagus COSM1247994 CDYL2 c.1167G>A p.T389T Substitution - coding silent Oesophagus COSM2270956 DNMT3A c.1975C>T p.R659C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1163731 ADNP c.3047delA p.K1016fs*11 Deletion - Frameshift Large_intestine COSM1162748 BRD9 c.928A>T p.M310L Substitution - Missense Skin COSM1198590 C20orf20 c.316G>A p.V106I Substitution - Missense Large_intestine COSM1168026 TET2 c.5396_5397insA p.M1800fs*6 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1262940 PRDM11 c.1011G>C p.L337L Substitution - coding silent Oesophagus COSM1266216 SMARCA2 c.666A>G p.Q222Q Substitution - coding silent Upper_aerodigestive_tract COSM1310293 PRDM8 c.849C>T p.L283L Substitution - coding silent Urinary_tract COSM1289714 EP400 c.8181_8182insCAG p.Q2748_T2749insQ Insertion - In frame Haematopoietic_and_lymphoid_tissue COSM1308268 BRD1 c.1770C>T p.P590P Substitution - coding silent Urinary_tract COSM1291999 LMNB1 c.1140C>T p.L380L Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM1303439 CBX4 c.847G>T p.E283* Substitution - Nonsense Urinary_tract COSM1381229 RAI1 c.453_454insC p.S154fs*84 Insertion - Frameshift Large_intestine COSM1363350 MBD6 c.2338delG p.G782fs*13 Deletion - Frameshift Large_intestine COSM1365736 ZMYM2 c.3742delA p.N1250fs*3 Deletion - Frameshift Large_intestine COSM1565742 ZMYND8 c.3181C>T p.Q1061* Substitution - Nonsense Large_intestine COSM1627474 EPC1 c.460-7C>G p.? Unknown Liver COSM1626107 TAF1 c.3392G>A p.R1131Q Substitution - Missense Liver COSM1637327 RAI1 c.1309G>A p.A437T Substitution - Missense Bone COSM1694315 GABRG1 c.185G>A p.G62E Substitution - Missense Skin COSM1720390 SETD5_ENST00000402198 c.580G>A p.E194K Substitution - Missense Skin COSM1744927 PBRM1 c.2111_2114delTGGA p.M704fs*9 Deletion - Frameshift Biliary_tract COSM1756874 PRDM16 c.2049G>C p.L683L Substitution - coding silent Urinary_tract COSM1936631 BAZ2A c.1742G>A p.R581H Substitution - Missense Large_intestine COSM2067831 ARID2 c.2404T>C p.F802L Substitution - Missense Large_intestine COSM2265286 ZMYM2 c.3197G>A p.C1066Y Substitution - Missense Large_intestine COSM2810255 ASXL3 c.109C>T p.P37S Substitution - Missense Liver COSM2931235 DIDO1 c.1290C>T p.S430S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM2952703 TET2 c.804G>A p.S268S Substitution - coding silent Large_intestine COSM3109774 CCDC101 c.9C>T p.L3L Substitution - coding silent Large_intestine COSM3075981 BRPF3 c.2067C>T p.I689I Substitution - coding silent Skin COSM3148777 DNMT1 c.3107A>G p.H1036R Substitution - Missense Large_intestine COSM3166382 ATAD2 c.375A>T p.K125N Substitution - Missense Large_intestine COSM3362399 CHD3 c.2246T>A p.F749Y Substitution - Missense Kidney COSM3388427 ASXL3 c.2284G>A p.A762T Substitution - Missense Pancreas COSM3385795 LBR c.1785C>T p.Y595Y Substitution - coding silent Biliary_tract COSM3403819 MUM1 c.68C>T p.A23V Substitution - Missense Central_nervous_system COSM3406388 PHF16 c.2286G>C p.Q762H Substitution - Missense Central_nervous_system COSM3396084 BAZ2A c.4686G>T p.Q1562H Substitution - Missense Prostate COSM3434289 TDRD1 c.922G>A p.E308K Substitution - Missense Skin COSM3424217 TCF20 c.1182G>T p.E394D Substitution - Missense Large_intestine COSM3437326 EPC1 c.2218A>G p.T740A Substitution - Missense Skin COSM3474517 GATAD2B c.1132C>T p.H378Y Substitution - Missense Skin COSM3632998 SND1 c.1857C>T p.S619S Substitution - coding silent Skin COSM3524754 SMCHD1 c.2769C>T p.N923N Substitution - coding silent Skin COSM3519490 MBTD1 c.875C>T p.P292L Substitution - Missense Skin COSM3656080 EHMT1 c.908C>T p.A303V Substitution - Missense Skin COSM3656878 TAF1L c.561C>T p.P187P Substitution - coding silent Skin COSM3664613 TBL1XR1 c.100A>G p.I34V Substitution - Missense Breast COSM3694638 SMC1A c.991G>T p.G331C Substitution - Missense Large_intestine COSM3689037 ASH1L c.7976G>A p.R2659H Substitution - Missense Stomach COSM3691810 ZBTB4 c.627A>C p.P209P Substitution - coding silent Large_intestine COSM3668631 HDAC4 c.3164C>G p.T1055R Substitution - Missense Liver COSM3731719 HDAC4 c.2955G>A p.S985S Substitution - coding silent Stomach COSM3719466 ASXL1 c.2147delC p.A716fs*9 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3806871 TRDMT1 c.522A>C p.L174F Substitution - Missense Breast COSM3816029 MGA c.5233A>C p.T1745P Substitution - Missense Breast COSM3787124 GTF3C1 c.6093C>T p.P2031P Substitution - coding silent Pancreas COSM3855003 NIPBL c.649A>C p.N217H Substitution - Missense Stomach COSM3855709 C5orf35 c.689T>C p.V230A Substitution - Missense Stomach COSM3834659 WHSC1L1 c.1086G>A p.Q362Q Substitution - coding silent Breast COSM3951265 ATAD2 c.280G>A p.E94K Substitution - Missense Lung COSM3972885 SMARCB1 c.1129C>T p.R377C Substitution - Missense Lung COSM3981140 KAT6B c.3803G>C p.G1268A Substitution - Missense Ovary COSM3978899 BTAF1 c.1423A>G p.T475A Substitution - Missense Lung COSM4012675 MGMT c.254A>G p.H85R Substitution - Missense Stomach COSM4117995 SETD2 c.4971G>A p.P1657P Substitution - coding silent Large_intestine COSM4118116 DHX30 c.2902T>C p.Y968H Substitution - Missense Stomach COSM4129608 NCOR1 c.571G>A p.E191K Substitution - Missense Upper_aerodigestive_tract COSM4161998 KMT2C c.2726G>A p.R909K Substitution - Missense Upper_aerodigestive_tract COSM4189179 ARID1A c.6008_6009insAC p.P2005fs*11 Insertion - Frameshift Kidney COSM4385518 PHF6 c.941T>C p.I314T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4400611 NSD1 c.1926T>A p.S642S Substitution - coding silent Skin COSM4392425 CBX2 c.778A>G p.M260V Substitution - Missense Prostate COSM4408972 TRRAP c.11397C>A p.F3799L Substitution - Missense Liver COSM4598152 NCOA6 c.1466T>C p.F489S Substitution - Missense Upper_aerodigestive_tract COSM4436383 MYST1 c.1278C>T p.L426L Substitution - coding silent Oesophagus COSM4566752 KDM5C c.4635_4636CC>TT p.R1546W Substitution - Missense Skin COSM4485538 KMT2A c.2946C>T p.S982S Substitution - coding silent Skin COSM4411651 SMYD4 c.676G>A p.E226K Substitution - Missense Oesophagus COSM4694952 KDM4A c.1096_1098delGAG p.E368delE Deletion - In frame Large_intestine COSM4725134 SETBP1 c.3604G>T p.E1202* Substitution - Nonsense Large_intestine COSM4660721 AKAP1 c.2502C>A p.D834E Substitution - Missense Large_intestine COSM4770116 ASXL1 c.2210T>C p.V737A Substitution - Missense Biliary_tract COSM4607831 ACTR8 c.1354G>T p.E452* Substitution - Nonsense Adrenal_gland COSM4754554 MSH6 c.2552G>A p.S851N Substitution - Missense Stomach COSM4804476 SRCAP c.4477T>C p.L1493L Substitution - coding silent Liver COSM4779861 ZMYND8 c.234G>A p.Q78Q Substitution - coding silent Liver COSM4884480 KMT2C c.12183T>G p.T4061T Substitution - coding silent Upper_aerodigestive_tract COSM4893403 CBX6 c.785C>T p.A262V Substitution - Missense Skin COSM4935188 KDM3B c.2966A>G p.Y989C Substitution - Missense Liver COSM4908770 PRDM11 c.10A>G p.M4V Substitution - Missense Central_nervous_system COSM4833737 EP300 c.3807-1G>C p.? Unknown Oesophagus COSM4820792 EHMT2 c.3427G>C p.D1143H Substitution - Missense Cervix COSM4820696 SMARCC1 c.1986G>C p.L662F Substitution - Missense Cervix COSM4963830 SETD2 c.5476C>T p.Q1826* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4974513 GATAD2B c.1300G>A p.E434K Substitution - Missense Oesophagus COSM4985630 TCF20 c.2549A>G p.Q850R Substitution - Missense Soft_tissue COSM4982519 DIDO1 c.4509G>C p.Q1503H Substitution - Missense Oesophagus COSM5076537 SP110 c.1888-5C>G p.? Unknown Large_intestine COSM5133565 BRD1 c.2666G>A p.R889H Substitution - Missense Large_intestine COSM5047409 UTY c.906_907insT p.S303fs*7 Insertion - Frameshift Oesophagus COSM5409823 PRDM14 c.938A>G p.H313R Substitution - Missense Skin COSM5370344 MGMT c.543G>A p.L181L Substitution - coding silent Skin COSM5415258 MSH6 c.2331G>A p.W777* Substitution - Nonsense Endometrium COSM5476703 PHF3 c.5862C>T p.D1954D Substitution - coding silent Large_intestine COSM5463469 BRD9 c.1202A>G p.D401G Substitution - Missense Large_intestine COSM5487298 TAF1L c.5407G>A p.G1803S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5430673 MGA c.3344_3345delGA p.E1116fs*31 Deletion - Frameshift Oesophagus COSM5575840 KMT2C c.14242G>A p.A4748T Substitution - Missense Stomach COSM5751758 EZH2 c.1582_1583insA p.C528fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5654150 TAF3 c.2087T>C p.V696A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5754456 DMAP1 c.112T>A p.S38T Substitution - Missense Large_intestine COSM5718719 CHD8 c.3358C>T p.P1120S Substitution - Missense Skin COSM5719460 RBBP5 c.736C>T p.Q246* Substitution - Nonsense Skin COSM5744572 KMT2C c.13G>T p.E5* Substitution - Nonsense Small_intestine COSM5620936 HDAC4 c.28C>T p.L10F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5622183 WHSC1 c.1097C>T p.A366V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5675158 METTL21D c.187G>T p.A63S Substitution - Missense Soft_tissue COSM5658750 CREBBP c.1942-2A>G p.? Unknown Soft_tissue COSM5702538 BAP1 c.438-?_580+?del? p.? Unknown Eye COSM5693652 HDAC10 c.389G>T p.R130M Substitution - Missense Soft_tissue COSM5772500 TP53BP1 c.4523G>A p.R1508Q Substitution - Missense Breast COSM5878874 DNMT3A c.786delT p.E263fs*53 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5810531 CXXC1 c.1815C>T p.R605R Substitution - coding silent Liver COSM5811707 PHIP c.682A>C p.I228L Substitution - Missense Liver COSM5802517 YEATS4 c.438delC p.P147fs*4 Deletion - Frameshift Breast COSM5884462 PHF14 c.1094C>A p.S365Y Substitution - Missense Large_intestine COSM5945059 TET2 c.4315A>T p.K1439* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5945210 KMT2A c.5718G>A p.W1906* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5909805 ACTR5 c.536C>T p.S179L Substitution - Missense Skin COSM5912187 BRD8 c.164C>T p.P55L Substitution - Missense Skin COSM5988070 SFMBT2 c.529C>G p.L177V Substitution - Missense Salivary_gland COSM5999021 SFMBT2 c.526-8T>G p.? Unknown Prostate COSM6014190 SIRT3 c.879C>G p.F293L Substitution - Missense Skin COSM41901 TET2 c.? p.R1216* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM5753357 PBRM1 c.? p.H712P Substitution - Missense Kidney COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM132980 ASXL1 c.? p.R693* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1162160 ATRX c.? p.R781* Substitution - Nonsense Central_nervous_system COSM87295 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM283995 PHF7 c.633A>C p.K211N Substitution - Missense Large_intestine COSM21481 HNF1A c.872_873insC p.G292fs*25 Insertion - Frameshift Liver COSM3587202 MBD4 c.357A>G p.R119R Substitution - coding silent Skin COSM225794 ZMYND8 c.173C>T p.S58L Substitution - Missense Skin COSM457760 PHF8 c.1834G>C p.D612H Substitution - Missense Breast COSM5446319 KMT2C c.2446_2447insA p.Y816fs*1 Insertion - Frameshift Thyroid COSM5019040 ERCC6 c.1196G>A p.G399D Substitution - Missense Soft_tissue COSM2749483 LMNB2 c.1626C>T p.T542T Substitution - coding silent Large_intestine COSM4805273 ZBTB38 c.1913G>T p.C638F Substitution - Missense Liver COSM914355 ASXL1 c.? p.Q748* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4944434 SETDB1 c.3326A>T p.E1109V Substitution - Missense Liver COSM1443053 ATAT1 c.777C>T p.R259R Substitution - coding silent Large_intestine COSM1025795 DNMT3B c.1139G>A p.R380Q Substitution - Missense Endometrium COSM3457102 HNF1A c.700G>A p.E234K Substitution - Missense Skin COSM4804467 TBL1XR1 c.1105G>T p.D369Y Substitution - Missense Liver COSM337023 PHF12 c.1545A>T p.P515P Substitution - coding silent Lung COSM4108377 RBBP7 c.414C>T p.I138I Substitution - coding silent Stomach COSM5624222 PRDM10 c.1181G>A p.R394Q Substitution - Missense Oesophagus COSM4432546 L3MBTL3 c.322T>G p.L108V Substitution - Missense Oesophagus COSM260288 CREBBP c.321G>A p.P107P Substitution - coding silent Large_intestine COSM4133974 SMYD1 c.1390G>A p.A464T Substitution - Missense Thyroid COSM5941317 KAT6B c.1123G>A p.G375S Substitution - Missense Skin COSM5573805 CHD7 c.5599_5600insA p.I1868fs*3 Insertion - Frameshift Prostate COSM5914744 PRDM16 c.2315C>T p.P772L Substitution - Missense Skin COSM4130526 BPTF c.5833C>T p.P1945S Substitution - Missense Thyroid COSM5448946 RAI1 c.4816G>A p.A1606T Substitution - Missense Large_intestine COSM3661225 PRDM8 c.158A>G p.D53G Substitution - Missense Liver COSM5458675 RERE c.3777C>T p.Y1259Y Substitution - coding silent Large_intestine COSM1166661 TRRAP c.3508C>T p.R1170W Substitution - Missense Stomach COSM1104689 PHF19 c.1637C>T p.A546V Substitution - Missense Endometrium COSM3742096 NCOR1 c.155A>G p.Q52R Substitution - Missense Liver COSM3857068 PRDM13 c.7G>A p.G3R Substitution - Missense Stomach COSM5891889 PHF15 c.1805C>T p.A602V Substitution - Missense Skin COSM41296 IDH2 c.? p.R172W Substitution - Missense Biliary_tract COSM5393247 SMARCB1 c.749C>T p.T250M Substitution - Missense Skin COSM1386344 ZBTB4 c.520C>T p.R174C Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM3472822 PRDM2 c.2388C>T p.S796S Substitution - coding silent Skin COSM4168266 PHF6 c.513delT p.F172fs*46 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5753474 EPC1 c.2465C>T p.A822V Substitution - Missense Large_intestine COSM1640246 TP53BP1 c.5407C>T p.L1803F Substitution - Missense Stomach COSM1492680 SUV420H1 c.2231G>T p.S744I Substitution - Missense Kidney COSM3358407 KDM5C c.4280_4283delAGCC p.Q1427fs*50 Deletion - Frameshift Kidney COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM4725138 SETD1A c.1188T>G p.P396P Substitution - coding silent Large_intestine COSM42060 TET2 c.1608_1609insAA p.E537fs*6 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5882096 PHRF1 c.4454C>G p.S1485* Substitution - Nonsense Breast COSM3709526 ATAD2B_ENST00000238789 c.3037G>A p.D1013N Substitution - Missense Liver COSM5652048 KMT2D c.8924T>G p.L2975* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM916830 TRDMT1 c.187G>A p.E63K Substitution - Missense Endometrium COSM416978 CHD9 c.2686A>G p.I896V Substitution - Missense Urinary_tract COSM972477 CTCF c.767_771delAAATT p.I257fs*11 Deletion - Frameshift Endometrium COSM3681680 MECP2 c.674C>T p.P225L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5393249 SMARCB1 c.760C>T p.L254L Substitution - coding silent Skin COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5429111 MYST3 c.953A>C p.K318T Substitution - Missense Oesophagus COSM4185623 BRD4 c.1246C>T p.Q416* Substitution - Nonsense Kidney COSM5904251 NSD1 c.4121C>T p.S1374F Substitution - Missense Skin COSM4461018 ALKBH1 c.118C>T p.L40L Substitution - coding silent Skin COSM1051854 PRMT10 c.1076G>A p.R359Q Substitution - Missense Large_intestine COSM985527 CHD3 c.5089C>T p.R1697* Substitution - Nonsense Endometrium COSM5030986 ASXL1 c.1318A>C p.K440Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4736060 TRIM33 c.1239G>T p.M413I Substitution - Missense Large_intestine COSM35718 KAT6B c.2113G>A p.E705K Substitution - Missense Central_nervous_system COSM87001 DNMT3A c.2644C>A p.R882S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3138094 PHF15 c.616C>T p.R206C Substitution - Missense Large_intestine COSM4602565 SETD1A c.2416A>G p.M806V Substitution - Missense Upper_aerodigestive_tract COSM5110306 LMNB2 c.1783_1785delAGA p.R595delR Deletion - In frame Large_intestine COSM5020470 DOT1L c.1465+10T>C p.? Unknown Soft_tissue COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4436032 ACTR5 c.1742A>T p.K581M Substitution - Missense Oesophagus COSM5879041 TET2 c.5072_5073insTA p.K1692fs*4 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM284222 PRDM9 c.394G>T p.E132* Substitution - Nonsense Large_intestine COSM5157997 MBTD1 c.627+6A>G p.? Unknown Large_intestine COSM1025719 ASXL1 c.473C>T p.A158V Substitution - Missense Large_intestine COSM468038 EP400 c.8229G>A p.Q2743Q Substitution - coding silent Breast COSM145111 ARID1A c.1223C>T p.P408L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4093273 DNMT3A c.75C>T p.D25D Substitution - coding silent Stomach COSM3381976 BAZ1B c.1792A>G p.T598A Substitution - Missense Pancreas COSM43412 TET2 c.?_?del? p.?fs Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5708572 TBL1XR1 c.1255T>C p.S419P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM40170 RSF1 c.749G>A p.S250N Substitution - Missense Central_nervous_system COSM4162024 KMT2C c.946A>T p.T316S Substitution - Missense Upper_aerodigestive_tract COSM5879042 TET2 c.5126delG p.C1709fs*10 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5717849 GTF3C1 c.6085C>T p.L2029L Substitution - coding silent Skin COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM674155 SMARCB1 c.363-?_628+?del p.? Unknown Soft_tissue COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3559622 HCFC1 c.4143C>T p.S1381S Substitution - coding silent Skin COSM990724 CARM1 c.333C>T p.F111F Substitution - coding silent Breast COSM1313469 TRRAP c.10162A>G p.K3388E Substitution - Missense Urinary_tract COSM400448 TRIM66 c.1398T>C p.H466H Substitution - coding silent Lung COSM5053356 ARID1A c.2999C>T p.S1000F Substitution - Missense Stomach COSM1675366 KAT6B c.4470G>T p.K1490N Substitution - Missense Large_intestine COSM3912236 AIRE c.838C>T p.P280S Substitution - Missense Skin COSM1416630 TCF20 c.711T>A p.S237S Substitution - coding silent Large_intestine COSM3488216 PRDM16 c.1468C>T p.P490S Substitution - Missense Skin COSM937170 EP400 c.5824A>G p.T1942A Substitution - Missense Endometrium COSM1239993 PWWP2B c.1228T>C p.C410R Substitution - Missense Oesophagus COSM2823476 SMYD1 c.1363G>A p.E455K Substitution - Missense Skin COSM740036 EYA4 c.1595C>G p.S532C Substitution - Missense Lung COSM2153774 INOC1 c.2309G>A p.R770Q Substitution - Missense Central_nervous_system COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM577373 CHD6 c.1549C>T p.P517S Substitution - Missense Skin COSM3394622 KMT2C c.9923C>A p.P3308Q Substitution - Missense Pancreas COSM5958990 PRMT10 c.101delA p.H34fs*25 Deletion - Frameshift Thyroid COSM4385109 ASXL1 c.2572C>T p.Q858* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4095555 SMYD5 c.261A>C p.E87D Substitution - Missense Stomach COSM1436890 PRDM9 c.2077G>C p.V693L Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5716135 TDRKH c.1486C>T p.P496S Substitution - Missense Skin COSM1677800 ING1 c.202C>T p.R68W Substitution - Missense Large_intestine COSM2859790 TIF1 c.365-5C>T p.? Unknown Skin COSM3787237 CDYL2 c.639A>G p.G213G Substitution - coding silent Pancreas COSM33731 IDH2 c.514A>G p.R172G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2235547 ARID1A c.5614G>A p.A1872T Substitution - Missense Endometrium COSM2874629 NCOA2 c.1881C>T p.D627D Substitution - coding silent Large_intestine COSM1685354 KMT2D c.1940_1941insC p.P648fs*2 Insertion - Frameshift Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5909284 PRDM4 c.676C>T p.P226S Substitution - Missense Skin COSM5486446 BRD8 c.2496G>T p.G832G Substitution - coding silent Large_intestine COSM4606482 KMT2C c.2459C>T p.T820I Substitution - Missense Large_intestine COSM1737152 PWWP2B c.149C>T p.P50L Substitution - Missense Stomach COSM1757093 SMARCC1 c.1276C>T p.P426S Substitution - Missense Urinary_tract COSM5599096 ASH1L c.8072G>A p.R2691Q Substitution - Missense Skin COSM5944228 DNMT3A c.1592_1594delACG p.D531delD Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM1221889 PRDM2 c.4567A>C p.K1523Q Substitution - Missense Large_intestine COSM2246111 ARID4A c.3642delA p.R1216fs*2 Deletion - Frameshift Large_intestine COSM3615192 PRDM9 c.451C>T p.P151S Substitution - Missense Skin COSM473480 KDM6B c.2635G>T p.A879S Substitution - Missense Oesophagus COSM3551337 AIRE c.972C>T p.S324S Substitution - coding silent Skin COSM5985260 JHDM1D c.778G>A p.V260I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1613554 BAZ2B c.2444A>G p.Y815C Substitution - Missense Liver COSM1611719 BRD4 c.899T>C p.I300T Substitution - Missense Liver COSM4185714 GTF3C1 c.5602A>G p.S1868G Substitution - Missense Kidney COSM4790413 NCOA6 c.5495G>A p.C1832Y Substitution - Missense Liver COSM3479311 TDRD5 c.2187C>T p.C729C Substitution - coding silent Skin COSM5054304 TP53BP1 c.5544G>A p.L1848L Substitution - coding silent Stomach COSM984428 ZBTB4 c.932G>A p.C311Y Substitution - Missense Endometrium COSM4611275 KAT6B c.4098_4106delAGAGGAAGG p.G1369_E1371delGEE Deletion - In frame Large_intestine COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM147497 KMT2D c.2015-8C>T p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5611058 TRRAP c.3477G>T p.G1159G Substitution - coding silent Skin COSM3421983 KDM6B c.2921G>A p.R974Q Substitution - Missense Large_intestine COSM5899777 CHD6 c.1427G>A p.W476* Substitution - Nonsense Skin COSM353109 SP110 c.272G>T p.R91L Substitution - Missense Lung COSM1704050 GLYATL1 c.52G>A p.E18K Substitution - Missense Skin COSM3620792 EYA4 c.200G>A p.G67E Substitution - Missense Skin COSM158731 PHF6 c.725G>A p.C242Y Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM703194 MYST1 c.322C>T p.R108W Substitution - Missense Lung COSM4098441 CHD6 c.6489G>C p.E2163D Substitution - Missense Stomach COSM3932769 CBX4 c.908A>C p.H303P Substitution - Missense Urinary_tract COSM1685359 SETBP1 c.? p.G870D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4790486 HDAC5 c.1638C>A p.T546T Substitution - coding silent Liver COSM5692527 CHD8 c.1456G>A p.E486K Substitution - Missense Soft_tissue COSM1132160 NIPBL c.6092T>A p.L2031H Substitution - Missense Prostate COSM4608502 PHF11 c.440G>T p.G147V Substitution - Missense Adrenal_gland COSM4544788 GTF3C1 c.3641G>T p.S1214I Substitution - Missense Skin COSM350271 DNMT3L c.344+2T>A p.? Unknown Lung COSM3698663 BAZ1B c.1085C>A p.P362H Substitution - Missense Large_intestine COSM1559373 HNF1A c.1545G>A p.T515T Substitution - coding silent Soft_tissue COSM4012981 SUV39H2 c.811C>T p.H271Y Substitution - Missense Stomach COSM4121665 PRDM5 c.79C>T p.R27C Substitution - Missense Stomach COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM937189 EP400 c.8232G>A p.Q2744Q Substitution - coding silent Endometrium COSM3813960 PHF11 c.585G>C p.M195I Substitution - Missense Breast COSM3489198 MEAF6 c.355G>T p.G119W Substitution - Missense Skin COSM3402697 PHF12 c.1313C>T p.A438V Substitution - Missense Central_nervous_system COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM230554 PRDM8 c.1066C>T p.R356* Substitution - Nonsense Skin COSM3987967 TP53BP1 c.1643C>T p.T548M Substitution - Missense Small_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4742918 ZMYM3 c.451A>C p.T151P Substitution - Missense Large_intestine COSM144550 DNMT3A c.? p.R635G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5574425 BAZ2A c.2425_2426delAA p.K809fs*23 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1220393 PHIP c.1421C>T p.P474L Substitution - Missense Large_intestine COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1063497 HDAC3 c.915C>G p.R305R Substitution - coding silent Endometrium COSM1349254 TAF3 c.1978G>T p.E660* Substitution - Nonsense Large_intestine COSM4054837 TP53BP1 c.3420T>C p.S1140S Substitution - coding silent Stomach COSM955470 BAZ1A c.1471G>T p.E491* Substitution - Nonsense Endometrium COSM97163 PRDM1 c.556+1G>C p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5942756 ZBTB4 c.2743G>A p.V915I Substitution - Missense Skin COSM4162016 KMT2C c.2352C>A p.S784S Substitution - coding silent Thyroid COSM5607928 BAP1 c.627C>T p.V209V Substitution - coding silent Skin COSM4504844 CREBBP c.6764C>T p.P2255L Substitution - Missense Skin COSM5002406 CHD4 c.414G>T p.E138D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4242519 RERE c.33A>G p.K11K Substitution - coding silent Soft_tissue COSM53006 EZH2 c.1200_1203delAGAA p.E401fs*22 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1030946 PRDM15 c.1629C>T p.G543G Substitution - coding silent Endometrium COSM1192805 NCOA7 c.202delA p.K70fs*7 Deletion - Frameshift Large_intestine COSM2221612 EED c.213delA p.K72fs*14 Deletion - Frameshift Large_intestine COSM5924408 TDRD6 c.5096C>T p.S1699F Substitution - Missense Skin COSM3620790 EYA4 c.160G>A p.E54K Substitution - Missense Skin COSM5700635 ZMYM4 c.4047A>C p.T1349T Substitution - coding silent Soft_tissue COSM4951812 ZMYM1 c.2077T>G p.L693V Substitution - Missense Liver COSM1381136 NCOR1 c.2079G>A p.E693E Substitution - coding silent Large_intestine COSM3650733 EYA1 c.581G>A p.G194E Substitution - Missense Skin COSM3428090 PRDM5 c.941G>C p.R314T Substitution - Missense Large_intestine COSM3705048 ASH1L c.7142A>G p.D2381G Substitution - Missense Liver COSM4049863 CHD8 c.1477C>T p.R493W Substitution - Missense Stomach COSM738292 PRDM9 c.98T>A p.I33K Substitution - Missense Lung COSM253767 KMT2C c.2959T>C p.Y987H Substitution - Missense Soft_tissue COSM1112292 MORF4L2 c.91A>G p.R31G Substitution - Missense Endometrium COSM5149789 LMNB2 c.740A>G p.H247R Substitution - Missense Large_intestine COSM1027516 ZMYND8 c.2718+2T>C p.? Unknown Endometrium COSM41214 TET2 c.4062delA p.A1355fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM87148 TET2 c.4044+2_4044+3insT p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5763318 KDM4C c.2901+5G>T p.? Unknown Large_intestine COSM4483604 BTAF1 c.2716C>T p.Q906* Substitution - Nonsense Skin COSM4418176 PRMT8 c.1047G>A p.R349R Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM4168929 TRRAP c.3475G>A p.G1159R Substitution - Missense Peritoneum COSM4170419 KMT2D c.7635delA p.Q2545fs*36 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM468036 EP400 c.5027G>A p.G1676D Substitution - Missense Kidney COSM3984157 PRDM2 c.4546C>T p.R1516W Substitution - Missense Kidney COSM4792373 BAHCC1 c.805C>G p.P269A Substitution - Missense Liver COSM4408213 SETDB1 c.3331G>A p.E1111K Substitution - Missense Pancreas COSM1687351 PHC2 c.2534C>T p.A845V Substitution - Missense Skin COSM4042389 KMT2D c.5436C>T p.S1812S Substitution - coding silent Stomach COSM3942737 NCOA2 c.1496G>A p.S499N Substitution - Missense Oesophagus COSM1169573 PBRM1 c.4431_4437delTGTCATA p.V1478fs*9 Deletion - Frameshift Kidney COSM1624338 TDRD7 c.2094G>A p.E698E Substitution - coding silent Liver COSM78473 SETD4 c.269G>A p.R90Q Substitution - Missense Large_intestine COSM4075940 GATAD2A c.1045G>A p.A349T Substitution - Missense Stomach COSM1222118 PRMT8 c.286A>G p.T96A Substitution - Missense Large_intestine COSM1433364 KDM3B c.532G>T p.V178F Substitution - Missense Large_intestine COSM3581799 CAMKMT c.763G>C p.G255R Substitution - Missense Skin COSM5017374 KDM6B c.782_783insACCACA p.P262_P263insQP Insertion - In frame Soft_tissue COSM307763 TET2 c.? p.S794* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4519065 SMARCA4 c.945_946CC>TT p.P316S Substitution - Missense Skin COSM3419568 BRDT c.212A>C p.K71T Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4787851 MEN1 c.476T>C p.F159S Substitution - Missense Liver COSM3883708 TRRAP c.2253G>T p.K751N Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4951455 ZBTB38 c.2784C>T p.S928S Substitution - coding silent Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3992532 KDM5C c.856A>G p.T286A Substitution - Missense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3401037 RERE c.3515G>A p.R1172H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1388998 CXXC1 c.681G>A p.T227T Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM437712 CHD3 c.632C>T p.A211V Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Bone COSM5579705 TDRD6 c.1404A>G p.E468E Substitution - coding silent Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4916336 TRRAP c.8854G>A p.V2952M Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM110290 BAZ1B c.1084C>T p.P362S Substitution - Missense Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4679209 DOT1L c.4143C>T p.G1381G Substitution - coding silent Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1474789 KAT6B c.6005T>A p.M2002K Substitution - Missense Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Soft_tissue COSM5898872 C5orf35 c.517C>T p.P173S Substitution - Missense Skin COSM24912 HNF1A c.1A>G p.M1V Substitution - Missense Liver COSM4991222 SMARCA4 c.1901C>T p.P634L Substitution - Missense Skin COSM5885784 BRD1 c.1278delC p.R427fs*31 Deletion - Frameshift Urinary_tract COSM145101 AP001011.3_ENST00000320876 c.551A>G p.D184G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM257213 KDM1A c.515C>T p.S172L Substitution - Missense Large_intestine COSM3625707 DAXX c.1734C>A p.T578T Substitution - coding silent Skin COSM2920019 CREBBP c.2597T>C p.M866T Substitution - Missense Large_intestine COSM4882832 SMARCA5 c.1766C>G p.A589G Substitution - Missense Upper_aerodigestive_tract COSM5019110 MECOM c.2472G>A p.S824S Substitution - coding silent Soft_tissue COSM3983621 ARID4A c.2041T>A p.Y681N Substitution - Missense Ovary COSM132968 ASXL1 c.? p.E635fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM2866572 TRRAP c.3474delG p.G1160fs*25 Deletion - Frameshift Large_intestine COSM5926971 NCOR1 c.439C>T p.P147S Substitution - Missense Skin COSM2802618 KDM6B c.2638C>G p.R880G Substitution - Missense Large_intestine COSM4714177 PHRF1 c.2804delC p.P937fs*23 Deletion - Frameshift Large_intestine COSM5749262 WHSC1 c.773G>T p.S258I Substitution - Missense Genital_tract COSM5888174 KMT2D c.9698-5C>T p.? Unknown Upper_aerodigestive_tract COSM5998131 EYA1 c.1051-10C>A p.? Unknown Prostate COSM3526907 L3MBTL4 c.1555C>T p.P519S Substitution - Missense Skin COSM3714607 ATXN7 c.2312G>A p.R771Q Substitution - Missense Upper_aerodigestive_tract COSM5096622 KDM4B c.3238G>T p.A1080S Substitution - Missense Large_intestine COSM5718002 SMARCA4 c.2650C>T p.H884Y Substitution - Missense Skin COSM5476827 NCOA2 c.1260T>C p.S420S Substitution - coding silent Large_intestine COSM4076482 LMNB2 c.652G>A p.E218K Substitution - Missense Stomach COSM3367384 CHD7 c.3685C>G p.L1229V Substitution - Missense Kidney COSM4045992 ING1 c.644G>A p.C215Y Substitution - Missense Stomach COSM3465556 APOBEC1 c.651G>A p.T217T Substitution - coding silent Skin COSM24282 MYST2 c.889C>T p.L297F Substitution - Missense Skin COSM34039 IDH2 c.514A>T p.R172W Substitution - Missense Central_nervous_system COSM13395 MSH6 c.3261delC p.F1088fs*2 Deletion - Frameshift Endometrium COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM29382 SMARCB1 c.1143delG p.A382fs*5 Deletion - Frameshift Central_nervous_system COSM86159 SETD5_ENST00000402198 c.113G>A p.S38N Substitution - Missense Ovary COSM97042 ASXL1 c.2898_2900delAGG p.G967del Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM128144 HDAC9 c.486C>T p.D162D Substitution - coding silent Upper_aerodigestive_tract COSM133729 DNMT3A c.327_328insG p.Q110fs*14 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM221062 KMT2D c.14270G>A p.R4757Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM149378 SETD2 c.1731G>A p.M577I Substitution - Missense Soft_tissue COSM166111 MBD5 c.2371delG p.N792fs*12 Deletion - Frameshift Breast COSM169326 NCOA2 c.926C>T p.A309V Substitution - Missense Stomach COSM188327 PRDM15 c.3127C>T p.R1043C Substitution - Missense Endometrium COSM217408 HDAC9 c.3128T>A p.L1043Q Substitution - Missense Liver COSM249142 DNMT3A c.2185C>T p.R729W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM254540 ARID1A c.6806C>T p.S2269L Substitution - Missense Urinary_tract COSM254628 CREBBP c.1063C>T p.Q355* Substitution - Nonsense Urinary_tract COSM251401 ARID1A c.1210C>T p.Q404* Substitution - Nonsense Large_intestine COSM287413 KDM5A c.3710C>T p.P1237L Substitution - Missense Skin COSM367740 ACTB c.272A>G p.Y91C Substitution - Missense Lung COSM368832 TCF20 c.784G>T p.G262C Substitution - Missense Lung COSM399250 CHD7 c.1674G>T p.P558P Substitution - coding silent Lung COSM422751 PBRM1 c.236G>T p.R79I Substitution - Missense Kidney COSM450465 L3MBTL3 c.1516A>G p.K506E Substitution - Missense Breast COSM983877 PHF23 c.498C>A p.P166P Substitution - coding silent Endometrium COSM966438 IDH2 c.1239G>A p.K413K Substitution - coding silent Endometrium COSM690811 ACTR6 c.475C>T p.P159S Substitution - Missense Lung COSM691512 HCFC2 c.1454A>G p.K485R Substitution - Missense Lung COSM954426 CHD8 c.5273G>A p.R1758H Substitution - Missense Endometrium COSM905246 ACTA1 c.6C>T p.C2C Substitution - coding silent Endometrium COSM932194 RSF1 c.3488G>A p.R1163Q Substitution - Missense Endometrium COSM926753 RAG2 c.1163C>A p.A388E Substitution - Missense Endometrium COSM970538 CREBBP c.6949C>A p.Q2317K Substitution - Missense Endometrium COSM971406 CHD9 c.476A>G p.H159R Substitution - Missense Endometrium COSM1060221 LMNB1 c.651C>T p.N217N Substitution - coding silent Endometrium COSM1125799 BRWD3 c.5174G>T p.R1725L Substitution - Missense Endometrium COSM1087043 EZH2 c.1634A>C p.Q545P Substitution - Missense Endometrium COSM1245947 BAP1 c.1762C>A p.P588T Substitution - Missense Stomach COSM1234973 SETBP1 c.2608G>A p.G870S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1181004 NIPBL c.8320delA p.I2776fs*3 Deletion - Frameshift Biliary_tract COSM1205883 EYA4 c.884C>T p.T295I Substitution - Missense Large_intestine COSM1266235 SMARCA4 c.4243C>T p.R1415* Substitution - Nonsense Stomach COSM1158712 ATRX c.2763C>T p.V921V Substitution - coding silent Pancreas COSM1172130 ARID1A c.6160G>T p.E2054* Substitution - Nonsense Oesophagus COSM1421140 FXR1 c.363_364insA p.N124fs*5 Insertion - Frameshift Large_intestine COSM1450077 STK31 c.1404delA p.T470fs*9 Deletion - Frameshift Large_intestine COSM1359363 SIRT4 c.656C>T p.T219I Substitution - Missense Large_intestine COSM1361991 KMT2D c.10770_10772delGCA p.Q3593delQ Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM1566684 PBRM1 c.2211A>G p.T737T Substitution - coding silent Soft_tissue COSM1469429 ATRX c.7181T>C p.V2394A Substitution - Missense Large_intestine COSM1581941 WHSC1 c.3376C>T p.R1126C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1628615 ARID2 c.5269A>G p.T1757A Substitution - Missense Liver COSM1684969 SMARCC2 c.3618G>A p.T1206T Substitution - coding silent Lung COSM1644381 AICDA c.160G>A p.G54S Substitution - Missense Skin COSM1677162 YEATS4 c.224G>A p.G75D Substitution - Missense Large_intestine COSM1675367 KAT6B c.4574C>T p.T1525I Substitution - Missense Large_intestine COSM1666105 PBRM1 c.4157_4158insAC p.Y1386fs*1 Insertion - Frameshift Kidney COSM1755320 ACTB c.147G>A p.Q49Q Substitution - coding silent Urinary_tract COSM1732563 STK31 c.552A>C p.E184D Substitution - Missense Soft_tissue COSM1965085 KAT6B c.1215T>C p.T405T Substitution - coding silent Upper_aerodigestive_tract COSM2007253 KMT2D c.3349delG p.A1117fs*27 Deletion - Frameshift Soft_tissue COSM2151726 SMEK1 c.1588C>G p.L530V Substitution - Missense Central_nervous_system COSM2265259 ZMYM2 c.2350C>T p.R784C Substitution - Missense Stomach COSM2759353 PHF20 c.1742C>T p.S581F Substitution - Missense Soft_tissue COSM3296124 MBD5 c.1248C>T p.H416H Substitution - coding silent Upper_aerodigestive_tract COSM3365381 PBRM1 c.2784T>C p.A928A Substitution - coding silent Kidney COSM3387894 KAT2A c.143C>A p.P48H Substitution - Missense Pancreas COSM3426735 KDM3A c.309A>C p.E103D Substitution - Missense Large_intestine COSM3443947 KMT2A c.2233C>T p.R745* Substitution - Nonsense Skin COSM3458542 ATF7IP c.2166A>G p.S722S Substitution - coding silent Skin COSM3615190 PRDM9 c.331G>A p.E111K Substitution - Missense Skin COSM3510228 CHD9 c.1664C>A p.P555H Substitution - Missense Skin COSM3694439 HCFC1 c.4645G>A p.V1549I Substitution - Missense Large_intestine COSM3732724 NIPBL c.421A>G p.N141D Substitution - Missense Stomach COSM3744670 PYGO1 c.1257T>A p.A419A Substitution - coding silent Liver COSM3756112 AP001011.3_ENST00000320876 c.3528A>G p.T1176T Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3778725 TRRAP c.8947+7C>T p.? Unknown Urinary_tract COSM3816027 MGA c.467T>G p.V156G Substitution - Missense Breast COSM3809834 MTA2 c.430C>T p.Q144* Substitution - Nonsense Breast COSM3788787 ASH1L c.4357C>G p.L1453V Substitution - Missense Urinary_tract COSM3855045 NIPBL c.6365G>A p.S2122N Substitution - Missense Stomach COSM3841019 CHD6 c.2437G>A p.D813N Substitution - Missense Breast COSM3843328 MSL3 c.336C>G p.V112V Substitution - coding silent Breast COSM3951754 CHD7 c.6715G>T p.E2239* Substitution - Nonsense Lung COSM3951756 CHD7 c.7058C>A p.T2353K Substitution - Missense Lung COSM4022285 TDRKH c.1217+2T>A p.? Unknown Stomach COSM4041764 KDM5A c.2715C>T p.D905D Substitution - coding silent Stomach COSM3987965 TP53BP1 c.3030T>C p.P1010P Substitution - coding silent Kidney COSM4100178 DIDO1 c.5247G>A p.P1749P Substitution - coding silent Stomach COSM4119063 BAP1 c.569C>A p.P190H Substitution - Missense Stomach COSM4072974 L3MBTL4 c.566C>A p.S189Y Substitution - Missense Stomach COSM4139284 DAXX c.991G>T p.D331Y Substitution - Missense Pancreas COSM4170756 CREBBP c.4448T>A p.I1483N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4602848 BPTF c.8028_8029insCCTCCAGCC p.P2684_P2685insAPP Insertion - In frame Upper_aerodigestive_tract COSM4494906 PHRF1 c.4424C>T p.P1475L Substitution - Missense Skin COSM4570949 BAZ2B c.3528T>G p.V1176V Substitution - coding silent Skin COSM4432372 KDM3B c.3652C>G p.P1218A Substitution - Missense Oesophagus COSM4546838 ACTA1 c.408G>A p.V136V Substitution - coding silent Skin COSM4553205 TDRD10 c.583G>A p.E195K Substitution - Missense Skin COSM4446508 KMT2D c.15712-3C>G p.? Unknown Skin COSM4717506 PRDM2 c.4943C>A p.P1648Q Substitution - Missense Large_intestine COSM4681092 EP300 c.3798G>A p.W1266* Substitution - Nonsense Large_intestine COSM4728299 SMARCA5 c.1137A>G p.K379K Substitution - coding silent Large_intestine COSM4672116 CHD9 c.5351G>A p.R1784H Substitution - Missense Large_intestine COSM4728661 SND1 c.2186delC p.R731fs*11 Deletion - Frameshift Large_intestine COSM4693822 JHDM1D c.1969T>C p.S657P Substitution - Missense Large_intestine COSM4698239 LMNB2 c.741C>T p.H247H Substitution - coding silent Large_intestine COSM4611878 PHF2 c.1467_1468insA p.T493fs*21 Insertion - Frameshift Large_intestine COSM4766169 TET2 c.3500G>A p.R1167K Substitution - Missense Prostate COSM4746346 TDRD6 c.180G>A p.W60* Substitution - Nonsense Central_nervous_system COSM4790119 PRDM2 c.436C>A p.P146T Substitution - Missense Liver COSM4790119 PRDM2 c.436C>A p.P146T Substitution - Missense Liver COSM4798933 SRCAP c.232C>T p.Q78* Substitution - Nonsense Liver COSM4805311 BRD7 c.1371T>G p.Y457* Substitution - Nonsense Liver COSM4850457 KMT2D c.6487G>T p.E2163* Substitution - Nonsense Cervix COSM4977206 SMYD1 c.392A>G p.D131G Substitution - Missense Oesophagus COSM4988879 NSD1 c.3106G>C p.A1036P Substitution - Missense Soft_tissue COSM5029751 ASXL3 c.2617A>G p.R873G Substitution - Missense Bone COSM5054839 SRCAP c.2776G>A p.A926T Substitution - Missense Stomach COSM5130375 BAHCC1 c.4448C>T p.A1483V Substitution - Missense Large_intestine COSM5345189 TDRD6 c.444G>A p.Q148Q Substitution - coding silent Large_intestine COSM5377598 POGZ c.2666C>T p.S889F Substitution - Missense Skin COSM5415627 NCOA3 c.2178G>A p.Q726Q Substitution - coding silent Prostate COSM5514486 RNF2 c.951A>G p.K317K Substitution - coding silent Biliary_tract COSM5467038 JHDM1D c.1715C>T p.A572V Substitution - Missense Large_intestine COSM5474033 DNMT1 c.3380C>T p.P1127L Substitution - Missense Large_intestine COSM5487151 AKAP1 c.1954G>A p.V652I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5636659 TDRD5 c.2871A>C p.L957F Substitution - Missense Oesophagus COSM5717170 WHSC1 c.3039C>T p.I1013I Substitution - coding silent Skin COSM5716075 PRDM10 c.254G>A p.G85D Substitution - Missense Skin COSM5704150 KDM2A c.496A>G p.I166V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5549011 EP400 c.5799C>A p.A1933A Substitution - coding silent Prostate COSM5556950 SP140_ENST00000392045 c.523A>T p.I175L Substitution - Missense Prostate COSM5775224 ZCWPW2 c.443G>C p.R148T Substitution - Missense Breast COSM5832511 ACTA1 c.648delG p.K217fs*69 Deletion - Frameshift Breast COSM5880931 SMYD1 c.897G>T p.Q299H Substitution - Missense Soft_tissue COSM5941294 EYA1 c.1384G>A p.E462K Substitution - Missense Skin COSM5967257 NCOR1 c.6728_6729insT p.S2244fs*5 Insertion - Frameshift Salivary_gland COSM5981687 ASXL1 c.1108T>A p.S370T Substitution - Missense Upper_aerodigestive_tract COSM6005781 IDH2 c.1303A>T p.T435S Substitution - Missense Skin COSM1716179 EZH2 c.? p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM28755 IDH1 c.? p.V71I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43409 TET2 c.? p.?fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM5945800 BAP1 c.? p.H169fs*18 Frameshift Pleura COSM4169299 ARID1A c.? p.Q1519fs*8 Unknown Biliary_tract COSM41648 TET2 c.? p.N1641I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4169393 ARID1A c.? p.P1563S Substitution - Missense Skin COSM133714 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4385514 PHF6 c.833T>A p.M278K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM5019877 DNMT1 c.2645C>T p.T882I Substitution - Missense Soft_tissue COSM39432 PCGF2 c.190C>T p.R64W Substitution - Missense Thyroid COSM752349 TDRD7 c.1703G>A p.C568Y Substitution - Missense Lung COSM4992928 KMT2C c.8080C>T p.P2694S Substitution - Missense Skin COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM934522 PRDM4 c.1638C>A p.L546L Substitution - coding silent Endometrium COSM20582 BRD2 c.1672C>G p.R558G Substitution - Missense Stomach COSM4163939 KIAA2026_ENST00000399933 c.2083G>A p.V695I Substitution - Missense Thyroid COSM1257399 MBD4 c.1298A>G p.K433R Substitution - Missense Stomach COSM696350 TDRD3 c.769G>C p.E257Q Substitution - Missense Lung COSM3972064 SP140_ENST00000392045 c.554C>T p.S185L Substitution - Missense Oesophagus COSM4768555 CHD8 c.5128-2A>T p.? Unknown Biliary_tract COSM458076 ATRX c.3669A>G p.E1223E Substitution - coding silent Breast COSM445921 MECOM c.1499C>A p.A500D Substitution - Missense Breast COSM1029176 ZGPAT c.1118C>T p.S373L Substitution - Missense Endometrium COSM5771948 UHRF1 c.198G>A p.E66E Substitution - coding silent Breast COSM3938538 EPC2 c.882G>C p.E294D Substitution - Missense Oesophagus COSM94089 CREBBP c.7130C>T p.S2377L Substitution - Missense Lung COSM4035913 KDM2A c.1480A>G p.I494V Substitution - Missense Stomach COSM727028 EP300 c.4241A>G p.Y1414C Substitution - Missense Lung COSM484153 TDRD6 c.1553G>T p.R518M Substitution - Missense Kidney COSM1173529 PHF2 c.209A>G p.K70R Substitution - Missense Oesophagus COSM4949532 BAP1 c.92delA p.E31fs*41 Deletion - Frameshift Liver COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM1287119 PHRF1 c.977A>G p.Q326R Substitution - Missense Autonomic_ganglia COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5751440 PHF6 c.941T>AT p.I314fs*2 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM1720116 PRDM11 c.869A>C p.K290T Substitution - Missense Skin COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM682723 BRDT c.866T>C p.F289S Substitution - Missense Lung COSM4635468 ING3 c.720G>A p.K240K Substitution - coding silent Large_intestine COSM4035916 KDM2A c.2667C>T p.D889D Substitution - coding silent Stomach COSM4774973 PHF6 c.986A>C p.H329P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5342388 MEAF6 c.534-7C>T p.? Unknown Large_intestine COSM1738033 ASXL1 c.? p.A627fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM5642803 DHX30 c.2437C>T p.R813C Substitution - Missense Oesophagus COSM2061643 KDM4D c.972C>T p.F324F Substitution - coding silent Large_intestine COSM923583 KMT2A c.4992G>A p.R1664R Substitution - coding silent Endometrium COSM1211248 JARID2 c.2258G>A p.R753H Substitution - Missense Large_intestine COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM1390246 SMARCA4 c.1058delC p.I355fs*56 Deletion - Frameshift Large_intestine COSM4528302 EYA4 c.1525G>A p.D509N Substitution - Missense Skin COSM3656866 TAF1L c.1331G>A p.G444E Substitution - Missense Skin COSM3349810 DAXX c.952C>T p.R318* Substitution - Nonsense Stomach COSM4757999 BAHCC1 c.3412G>A p.E1138K Substitution - Missense Large_intestine COSM999379 PRMT1 c.948C>T p.N316N Substitution - coding silent Endometrium COSM2894218 ATF2 c.932G>A p.R311Q Substitution - Missense Soft_tissue COSM1700658 PHF20L1 c.857G>C p.*286S Nonstop extension Skin COSM300095 NCOR1 c.738_739insA p.A247fs*6 Insertion - Frameshift Large_intestine COSM4167584 PRDM11 c.49C>T p.R17W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4458951 TTF2 c.1105C>T p.P369S Substitution - Missense Skin COSM1741775 WHSC1L1 c.1507A>G p.I503V Substitution - Missense Urinary_tract COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85916 IKZF1 c.?_?del? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1077734 EHMT2 c.995A>C p.D332A Substitution - Missense Endometrium COSM255133 MEN1 c.751_751delA p.T251fs*30 Deletion - Frameshift Parathyroid COSM4665059 BAHD1 c.243C>T p.A81A Substitution - coding silent Large_intestine COSM4753390 CHD6 c.6272G>T p.W2091L Substitution - Missense Stomach COSM3510227 CHD9 c.1432C>T p.H478Y Substitution - Missense Skin COSM221741 MLL5 c.4042T>A p.C1348S Substitution - Missense Skin COSM244266 EP400 c.8175G>A p.Q2725Q Substitution - coding silent Central_nervous_system COSM4383869 TET2 c.2728C>T p.Q910* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM27188 CHD5 c.3917G>T p.R1306L Substitution - Missense Lung COSM1123032 SMC1A c.1990C>T p.R664W Substitution - Missense Endometrium COSM1671901 KDM3B c.4330G>T p.D1444Y Substitution - Missense Large_intestine COSM4098466 CHD6 c.1497C>A p.F499L Substitution - Missense Stomach COSM3463384 SMARCC2 c.2199C>T p.F733F Substitution - coding silent Skin COSM1678382 RTF1 c.1279C>T p.Q427* Substitution - Nonsense Large_intestine COSM5476726 PHF14 c.506C>T p.T169M Substitution - Missense Large_intestine COSM3852234 HDAC3 c.16G>A p.A6T Substitution - Missense Stomach COSM5053520 KDM4A c.639T>C p.P213P Substitution - coding silent Stomach COSM5377615 TDRKH c.1469G>A p.G490E Substitution - Missense Skin COSM4383931 TET2 c.3979C>T p.Q1327* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM185171 DNMT3B c.1138C>T p.R380* Substitution - Nonsense Endometrium COSM4772158 KDM4C c.2083G>C p.E695Q Substitution - Missense Stomach COSM1215198 KMT2D c.6732G>T p.Q2244H Substitution - Missense Large_intestine COSM1008143 BAZ2B c.5882A>G p.H1961R Substitution - Missense Endometrium COSM1606130 ARID2 c.81delC p.H28fs*30 Deletion - Frameshift Liver COSM182059 RAI1 c.1179G>A p.M393I Substitution - Missense Prostate COSM98317 JMJD5 c.1124A>T p.K375M Substitution - Missense Upper_aerodigestive_tract COSM5572973 RERE c.4340-2A>G p.? Unknown Prostate COSM5415435 KMT2D c.3694delG p.V1232fs*1 Deletion - Frameshift Prostate COSM1387289 BAHCC1 c.3864_3865insC p.S1291fs*8 Insertion - Frameshift Large_intestine COSM931215 SUV420H1 c.772A>G p.K258E Substitution - Missense Endometrium COSM4043517 SMARCC2 c.2580C>T p.T860T Substitution - coding silent Stomach COSM3429361 PRDM9 c.970G>T p.D324Y Substitution - Missense Large_intestine COSM1200964 CHD3 c.2363T>C p.F788S Substitution - Missense Large_intestine COSM5573359 SUV39H2 c.816+1G>A p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4976535 INOC1 c.2280G>A p.E760E Substitution - coding silent Oesophagus COSM1093675 TRRAP c.8226G>A p.M2742I Substitution - Missense Endometrium COSM4685912 FXR1 c.686T>G p.L229* Substitution - Nonsense Large_intestine COSM4589822 ARID1B c.3792_3793insG p.M1267fs*36 Insertion - Frameshift Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM352215 STK31 c.2692G>T p.E898* Substitution - Nonsense Lung COSM1495934 LMNB1 c.1254G>A p.R418R Substitution - coding silent Kidney COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1447862 SND1 c.1172G>A p.R391H Substitution - Missense Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5975793 SIRT5 c.345C>T p.N115N Substitution - coding silent Upper_aerodigestive_tract COSM5606005 PRMT1 c.634C>T p.L212L Substitution - coding silent Skin COSM3567464 MBD5 c.3962C>T p.S1321F Substitution - Missense Skin COSM1377530 SETD1A c.2115delC p.G708fs*95 Deletion - Frameshift Large_intestine COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3907576 KIAA2026_ENST00000399933 c.3172A>G p.T1058A Substitution - Missense Stomach COSM300428 NCOR1 c.4257G>A p.P1419P Substitution - coding silent Large_intestine COSM963074 PYGO1 c.653C>A p.S218Y Substitution - Missense Endometrium COSM3801772 SETDB1 c.1454A>C p.K485T Substitution - Missense Breast COSM5814101 BPTF c.965A>G p.D322G Substitution - Missense Liver COSM231552 DNMT3A c.1644G>A p.M548I Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM371984 ARID1B c.6042_6043CG>TT p.S2014>? Complex Lung COSM5699002 ORC1 c.2380A>T p.T794S Substitution - Missense Soft_tissue COSM355579 PHF21B c.1447C>A p.R483R Substitution - coding silent Lung COSM3697628 ARID1B c.195G>A p.Q65Q Substitution - coding silent Large_intestine COSM1262953 PRDM2 c.1225G>T p.E409* Substitution - Nonsense Oesophagus COSM1098849 ELP3 c.206G>A p.R69H Substitution - Missense Endometrium COSM5599929 MGA c.4643C>T p.S1548F Substitution - Missense Skin COSM5745097 SMNDC1 c.449G>A p.R150H Substitution - Missense Pancreas COSM4094440 MSH6 c.3028A>G p.T1010A Substitution - Missense Stomach COSM3838803 SP140 c.22G>C p.G8R Substitution - Missense Breast COSM46437 HNF1A c.570_577delAGGTGATG p.G191fs*26 Deletion - Frameshift Liver COSM2741653 ZBTB4 c.878G>A p.R293Q Substitution - Missense Large_intestine COSM1607437 MTA1 c.133T>C p.F45L Substitution - Missense Liver COSM4097802 NCOA6 c.4181G>A p.S1394N Substitution - Missense Stomach COSM4010184 RERE c.3623C>T p.A1208V Substitution - Missense Stomach COSM1678411 TP53BP1 c.4904C>T p.S1635F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM484152 TDRD6 c.823G>T p.E275* Substitution - Nonsense Kidney COSM5015054 KMT2A c.7439A>T p.N2480I Substitution - Missense Kidney COSM3837128 BAZ2B c.4734G>A p.M1578I Substitution - Missense Breast COSM72946 TET1 c.6067G>A p.A2023T Substitution - Missense Ovary COSM4069629 ZBTB4 c.1304C>T p.P435L Substitution - Missense Stomach COSM42044 TET2 c.2375C>A p.S792* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4788115 MECOM c.1877C>G p.S626C Substitution - Missense Liver COSM4118109 DHX30 c.1695C>T p.D565D Substitution - coding silent Stomach COSM1004 SMARCB1 c.646G>T p.E216* Substitution - Nonsense Soft_tissue COSM3912057 SETD4 c.1010C>T p.P337L Substitution - Missense Skin COSM254541 ARID1A c.3634C>T p.Q1212* Substitution - Nonsense Urinary_tract COSM254668 EP300 c.2470C>T p.Q824* Substitution - Nonsense Urinary_tract COSM3731386 ATF2 c.1117delA p.R373fs*8 Deletion - Frameshift Stomach COSM1744083 PHF21B c.893G>A p.S298N Substitution - Missense Biliary_tract COSM3237277 KDM3B c.895T>A p.S299T Substitution - Missense Upper_aerodigestive_tract COSM1451978 BAZ1B c.1814C>T p.T605M Substitution - Missense Large_intestine COSM1026865 CHD6 c.4189C>G p.R1397G Substitution - Missense Endometrium COSM27255 SIRT5 c.324C>T p.V108V Substitution - coding silent Skin COSM5727029 PRMT7 c.2076C>T p.D692D Substitution - coding silent Skin COSM126635 CREBBP c.1507C>T p.Q503* Substitution - Nonsense Upper_aerodigestive_tract COSM4921582 TRRAP c.4577G>T p.R1526L Substitution - Missense Liver COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4602528 PBRM1 c.3032A>G p.K1011R Substitution - Missense Upper_aerodigestive_tract COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5348003 KMT2C c.9634delC p.L3212fs*37 Deletion - Frameshift Liver COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5004473 ATAD2 c.4100G>A p.R1367H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4648018 PCGF2 c.628G>A p.D210N Substitution - Missense Large_intestine COSM2270982 ASXL1 c.1249C>T p.R417* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM26410 SMARCB1 c.1051_1054delCCAC p.P351fs*5 Deletion - Frameshift Soft_tissue COSM5955662 UHRF2 c.1379G>A p.R460K Substitution - Missense Upper_aerodigestive_tract COSM285238 SND1 c.856G>T p.E286* Substitution - Nonsense Large_intestine COSM289416 ZBTB4 c.1757C>G p.T586R Substitution - Missense Large_intestine COSM34090 IDH2 c.516G>T p.R172S Substitution - Missense Bone COSM3378086 NCOR1 c.2249C>T p.A750V Substitution - Missense Pancreas COSM5057373 ZMYND8 c.2333delC p.P778fs*42 Deletion - Frameshift Stomach COSM5711661 KDM6A c.3439C>A p.Q1147K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4729945 SRCAP c.8215G>A p.G2739R Substitution - Missense Large_intestine COSM1331037 ELP3 c.1385G>A p.R462H Substitution - Missense Breast COSM5945809 BAP1 c.784-1G>T p.? Unknown Pleura COSM158743 PHF6 c.860G>T p.G287V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1348088 ERCC6 c.980G>A p.R327H Substitution - Missense Large_intestine COSM6003393 MBD1 c.1600C>A p.L534M Substitution - Missense Prostate COSM1756965 SETBP1 c.1795G>C p.E599Q Substitution - Missense Urinary_tract COSM1626213 UTY c.395G>T p.G132V Substitution - Missense Liver COSM3973922 ATRX c.3785A>G p.D1262G Substitution - Missense Central_nervous_system COSM1626158 BRWD3 c.2476-2A>G p.? Unknown Liver COSM4133597 HDAC4 c.2565C>T p.P855P Substitution - coding silent Thyroid COSM237311 DNMT1 c.4044G>A p.K1348K Substitution - coding silent Prostate COSM3941257 NSD1 c.5726C>G p.S1909C Substitution - Missense Oesophagus COSM703264 SRCAP c.848A>T p.D283V Substitution - Missense Lung COSM4801878 DAXX c.872G>T p.R291L Substitution - Missense Liver COSM34090 IDH2 c.516G>T p.R172S Substitution - Missense Bone COSM4887500 PHIP c.3952A>G p.I1318V Substitution - Missense Upper_aerodigestive_tract COSM1136582 IDH1 c.554A>C p.Q185P Substitution - Missense Kidney COSM5483053 SIRT6 c.67-10C>T p.? Unknown Large_intestine COSM3508983 SETD1A c.2390T>A p.M797K Substitution - Missense Skin COSM1724511 DNMT3B c.1906-6_1906-5delTT p.? Unknown Skin COSM1757283 ZMYM3 c.3602G>A p.G1201E Substitution - Missense Urinary_tract COSM42077 TET2 c.5636A>C p.E1879A Substitution - Missense Biliary_tract COSM4032630 RAG2 c.841A>C p.N281H Substitution - Missense Stomach COSM1101390 PRDM14 c.1221G>T p.K407N Substitution - Missense Endometrium COSM3723034 PHF2 c.2976C>A p.T992T Substitution - coding silent Upper_aerodigestive_tract COSM3291708 CHD6 c.2595G>A p.G865G Substitution - coding silent Upper_aerodigestive_tract COSM1007240 MBD5 c.3690G>A p.R1230R Substitution - coding silent Endometrium COSM4765209 MSH6 c.3254_3255insCC p.F1088fs*3 Insertion - Frameshift Stomach COSM939496 ARID2 c.821G>A p.R274Q Substitution - Missense Endometrium COSM4384056 NSD1 c.1558G>A p.A520T Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3467875 RNF17 c.618G>A p.K206K Substitution - coding silent Skin COSM1312889 KMT2C c.2080C>T p.L694F Substitution - Missense Urinary_tract COSM3642836 TRRAP c.9959C>T p.S3320F Substitution - Missense Skin COSM1734272 RBBP4 c.137C>T p.T46I Substitution - Missense Pancreas COSM5388038 ASXL3 c.278C>T p.S93L Substitution - Missense Skin COSM206276 KMT2C c.1966G>A p.V656I Substitution - Missense Prostate COSM5788551 BAZ1B c.2158G>A p.E720K Substitution - Missense Breast COSM4421322 BRDT c.403C>A p.Q135K Substitution - Missense Pleura COSM976051 SMYD4 c.1451A>G p.D484G Substitution - Missense Endometrium COSM5356977 NIPBL c.610+1G>T p.? Unknown Large_intestine COSM3710526 RBBP5 c.353G>A p.R118Q Substitution - Missense Upper_aerodigestive_tract COSM2874605 NCOA2 c.2658T>C p.N886N Substitution - coding silent Stomach COSM5676996 TDRD5 c.1716C>A p.S572S Substitution - coding silent Soft_tissue COSM5638897 GTF3C1 c.3940C>T p.H1314Y Substitution - Missense Oesophagus COSM4988896 PHIP c.5284T>C p.S1762P Substitution - Missense Soft_tissue COSM1098848 ELP3 c.109G>A p.D37N Substitution - Missense Endometrium COSM4978134 LMNB2 c.659G>A p.R220H Substitution - Missense Oesophagus COSM255454 EHMT1 c.3402C>T p.A1134A Substitution - coding silent Central_nervous_system COSM4982253 SP140_ENST00000392045 c.154G>C p.E52Q Substitution - Missense Oesophagus COSM4902804 MECOM c.1457G>A p.G486D Substitution - Missense Skin COSM4391840 CHD8 c.6732A>T p.R2244R Substitution - coding silent Prostate COSM5891217 DNMT3L c.910-5C>T p.? Unknown Skin COSM1083690 MLL5 c.4365G>A p.T1455T Substitution - coding silent Endometrium COSM4735995 TIF1 c.2917_2918insA p.R975fs*10 Insertion - Frameshift Large_intestine COSM4100188 DIDO1 c.4180G>A p.E1394K Substitution - Missense Stomach COSM203096 ATAD2 c.354delA p.E119fs*8 Deletion - Frameshift Oesophagus COSM4789343 HDAC9 c.1401T>A p.I467I Substitution - coding silent Liver COSM1217358 NIPBL c.1810T>A p.S604T Substitution - Missense Large_intestine COSM5700284 SMARCA1 c.2010G>A p.R670R Substitution - coding silent Soft_tissue COSM1012910 ASXL1 c.2338C>T p.Q780* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM709841 MUM1 c.349G>C p.D117H Substitution - Missense Lung COSM1633200 SETD2 c.4017G>C p.G1339G Substitution - coding silent Liver COSM5881359 SMARCA4 c.4319_4321delAGA p.K1442delK Deletion - In frame Soft_tissue COSM1303961 CARM1 c.424G>A p.E142K Substitution - Missense Urinary_tract COSM5951009 SMARCD2 c.1399G>A p.E467K Substitution - Missense Prostate COSM1716771 TET2 c.? p.S231fs*23 Frameshift Haematopoietic_and_lymphoid_tissue COSM3915306 MECOM c.2916G>A p.R972R Substitution - coding silent Skin COSM1490422 ZBTB33 c.1872A>C p.E624D Substitution - Missense Breast COSM3447103 RAG2 c.153G>T p.K51N Substitution - Missense Skin COSM3508205 GTF3C1 c.5746C>T p.L1916F Substitution - Missense Skin COSM1735948 ATRX c.2239_2284del46 p.S747fs*6 Deletion - Frameshift Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM85914 IKZF1 c.1_1560del1560 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1578112 ARID1A c.1841C>G p.S614* Substitution - Nonsense Urinary_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1035241 BRD1 c.1913G>A p.C638Y Substitution - Missense Large_intestine COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1137030 SETMAR c.637A>G p.T213A Substitution - Missense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1668899 MSH6 c.3200G>T p.S1067I Substitution - Missense Prostate COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4167247 TET2 c.? p.E846fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM74135 CHD6 c.3865G>A p.V1289M Substitution - Missense Ovary COSM1725148 MTA2 c.92A>G p.N31S Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1228836 TDRD6 c.158C>T p.A53V Substitution - Missense Large_intestine COSM1716176 EZH2 c.? p.Y646C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3986787 ATF7IP c.2553C>T p.P851P Substitution - coding silent Kidney COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM724828 DIDO1 c.2630C>T p.S877F Substitution - Missense Lung COSM144611 KMT2D c.11101C>T p.Q3701* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4493682 AP001011.3_ENST00000320876 c.419C>T p.P140L Substitution - Missense Skin COSM5043885 ACTB c.223A>G p.I75V Substitution - Missense Liver COSM1646545 CHD4 c.1821G>A p.E607E Substitution - coding silent Lung COSM1095748 ATAD2 c.2812C>A p.L938I Substitution - Missense Large_intestine COSM5599760 KDM6B c.3860C>T p.S1287F Substitution - Missense Skin COSM5976041 TDRD6 c.2401C>G p.L801V Substitution - Missense Upper_aerodigestive_tract COSM4150715 YY1 c.117A>G p.T39T Substitution - coding silent Kidney COSM1457130 MYST3 c.5245G>A p.A1749T Substitution - Missense Large_intestine COSM3174139 EYA4 c.1300A>G p.I434V Substitution - Missense Large_intestine COSM459433 BAZ2A_ENST00000379441 c.4726C>T p.Q1576* Substitution - Nonsense Upper_aerodigestive_tract COSM51980 BAP1 c.968_978del11 p.A323fs*71 Deletion - Frameshift Eye COSM5801162 AICDA c.29_40>10 p.K10fs*12 Unknown Breast COSM166805 SMC1A c.2456T>A p.I819N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3779874 EHMT1 c.2541C>T p.I847I Substitution - coding silent Urinary_tract COSM5426955 ZMYM4 c.3478T>G p.S1160A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM24595 SMARCB1 c.157C>T p.R53* Substitution - Nonsense Soft_tissue COSM5627365 NIPBL c.8299A>G p.K2767E Substitution - Missense Oesophagus COSM722954 SMYD1 c.868G>C p.G290R Substitution - Missense Lung COSM3048313 SP140_ENST00000392045 c.448G>A p.D150N Substitution - Missense Skin COSM2965370 KDM6A c.2040C>T p.N680N Substitution - coding silent Upper_aerodigestive_tract COSM245965 NCOA2 c.114T>A p.N38K Substitution - Missense Prostate COSM5748877 BAZ2B c.1291C>T p.R431W Substitution - Missense Pancreas COSM4898318 KMT2A c.6624G>A p.R2208R Substitution - coding silent Skin COSM51425 ARID1A c.5965C>T p.R1989* Substitution - Nonsense Endometrium COSM144693 PHF6 c.? p.G122* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3561786 PHF16 c.1998C>T p.S666S Substitution - coding silent Skin COSM3871642 ARID2 c.2567C>T p.T856I Substitution - Missense Skin COSM3304074 KMT2C c.9142C>T p.L3048L Substitution - coding silent Skin COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM29382 SMARCB1 c.1143delG p.A382fs*5 Deletion - Frameshift Central_nervous_system COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM85911 IKZF1 c.161-?_1560+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM53294 SMARCB1 c.323_323delA p.K108fs*35 Deletion - Frameshift Central_nervous_system COSM46446 HNF1A c.1249_1250insT p.G417fs*2 Insertion - Frameshift Liver COSM107494 TRRAP c.2165C>T p.S722F Substitution - Missense Skin COSM107494 TRRAP c.2165C>T p.S722F Substitution - Missense Large_intestine COSM97026 PRDM1 c.609C>A p.C203* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM110813 TET2 c.3861_3861delT p.F1287fs*76 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM112021 ZBTB4 c.11_12insC p.A5fs*18 Insertion - Frameshift Breast COSM128266 JMJD1C c.9T>C p.V3V Substitution - coding silent Upper_aerodigestive_tract COSM145928 SHPRH c.2128A>G p.M710V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM221085 KMT2D c.6783delC p.S2262fs*11 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM150426 KMT2C c.2963G>T p.C988F Substitution - Missense Upper_aerodigestive_tract COSM149376 SETD2 c.4376C>T p.P1459L Substitution - Missense Prostate COSM162499 KMT2A c.1566G>C p.E522D Substitution - Missense Breast COSM201010 ING1 c.586C>T p.R196* Substitution - Nonsense Urinary_tract COSM235016 KAT6B c.5671C>T p.L1891L Substitution - coding silent Skin COSM240680 KMT2D c.11860_11875del16 p.A3954fs*49 Deletion - Frameshift Prostate COSM267853 GABRG1 c.755C>T p.T252M Substitution - Missense Large_intestine COSM300506 TRRAP c.3910G>A p.A1304T Substitution - Missense Large_intestine COSM305500 PHF2 c.2961_2962ins15 p.T987_P988insPASTT Insertion - In frame Large_intestine COSM320130 EP300 c.4114T>C p.C1372R Substitution - Missense Oesophagus COSM335302 BMI1 c.554T>C p.I185T Substitution - Missense Lung COSM348573 HCFC2 c.281G>C p.G94A Substitution - Missense Lung COSM358027 HDAC9 c.1106G>C p.G369A Substitution - Missense Lung COSM367974 PRDM16 c.400G>T p.D134Y Substitution - Missense Lung COSM391912 HDAC2 c.413delG p.G138fs*28 Deletion - Frameshift Lung COSM461644 KMT2C c.10021C>A p.P3341T Substitution - Missense Cervix COSM470569 BAHD1 c.1062G>A p.P354P Substitution - coding silent Kidney COSM473247 BPTF c.7974G>A p.M2658I Substitution - Missense Kidney COSM480444 PBRM1 c.529-2A>T p.? Unknown Kidney COSM1027519 ZMYND8 c.2544G>T p.E848D Substitution - Missense Endometrium COSM938868 PRMT8 c.600G>T p.V200V Substitution - coding silent Endometrium COSM1030711 BRWD1 c.2326_2329delAAGA p.K776fs*49 Deletion - Frameshift Endometrium COSM748347 TRRAP c.2718G>A p.L906L Substitution - coding silent Lung COSM748357 TRRAP c.212C>T p.T71I Substitution - Missense Lung COSM751059 CHD7 c.4032C>A p.L1344L Substitution - coding silent Lung COSM903697 SMYD2 c.963C>T p.C321C Substitution - coding silent Endometrium COSM927109 PHF21A c.1467+2T>C p.? Unknown Endometrium COSM1067645 NIPBL c.962G>T p.R321I Substitution - Missense Endometrium COSM1039198 ZBTB38 c.1426C>T p.R476* Substitution - Nonsense Endometrium COSM961967 TP53BP1 c.5732-1G>T p.? Unknown Endometrium COSM970566 CREBBP c.4419delC p.C1474fs*76 Deletion - Frameshift Endometrium COSM971431 CHD9 c.5665G>A p.A1889T Substitution - Missense Large_intestine COSM1103006 TDRD7 c.1486G>C p.D496H Substitution - Missense Endometrium COSM1100767 CHD7 c.258G>A p.P86P Substitution - coding silent Endometrium COSM1246257 BRWD1 c.404G>A p.R135K Substitution - Missense Oesophagus COSM1180365 SRCAP c.8918C>T p.S2973L Substitution - Missense Prostate COSM1226783 SMARCC1 c.1075A>G p.K359E Substitution - Missense Large_intestine COSM1211714 KDM2B c.1666G>A p.A556T Substitution - Missense Central_nervous_system COSM1168023 TET2 c.4165C>T p.Q1389* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1187905 BMI1 c.43C>T p.H15Y Substitution - Missense Lung COSM1186269 SETD2 c.3936G>T p.L1312F Substitution - Missense Lung COSM1159327 EPC1 c.544A>G p.R182G Substitution - Missense Pancreas COSM1312883 KMT2C c.2698G>T p.G900* Substitution - Nonsense Urinary_tract COSM1314136 CHD7 c.3041G>A p.G1014E Substitution - Missense Urinary_tract COSM1303239 BPTF c.2378C>T p.S793L Substitution - Missense Urinary_tract COSM1308207 EP300 c.4365G>C p.Q1455H Substitution - Missense Urinary_tract COSM1316315 BAZ1B c.2914G>C p.G972R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1326283 NCOA1 c.4137_4138delAG p.E1380fs*15 Deletion - Frameshift Ovary COSM1318846 ASXL1 c.2212delG p.G738fs*6 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1381130 NCOR1 c.2960G>A p.C987Y Substitution - Missense Large_intestine COSM1429842 GABRG1 c.238C>T p.R80C Substitution - Missense Skin COSM1414095 BRWD1 c.2624A>C p.N875T Substitution - Missense Large_intestine COSM1429066 WHSC1 c.1009G>A p.V337M Substitution - Missense Large_intestine COSM1444985 CDYL c.313T>C p.Y105H Substitution - Missense Large_intestine COSM1347477 ZMYND11 c.1019C>T p.S340F Substitution - Missense Large_intestine COSM1685361 SETBP1 c.2612T>G p.I871S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1479296 SMYD4 c.702C>A p.S234S Substitution - coding silent Breast COSM1491103 PHF8 c.1537G>A p.A513T Substitution - Missense Breast COSM1476602 KMT2D c.10484C>G p.T3495R Substitution - Missense Breast COSM1612840 SUV420H2 c.133C>A p.Q45K Substitution - Missense Liver COSM1611970 DOT1L c.4622C>T p.A1541V Substitution - Missense Liver COSM1611473 DNMT1 c.417G>T p.R139S Substitution - Missense Liver COSM1618138 SETD5_ENST00000402198 c.3409A>G p.M1137V Substitution - Missense Liver COSM1622581 SMARCD3 c.319C>A p.Q107K Substitution - Missense Liver COSM1667287 ARID1A c.1756C>T p.Q586* Substitution - Nonsense Stomach COSM1673708 KMT2C c.7544G>A p.R2515K Substitution - Missense Central_nervous_system COSM1642930 ARID1B c.5337G>A p.L1779L Substitution - coding silent Stomach COSM1688383 TTF2 c.1687C>T p.P563S Substitution - Missense Skin COSM1732696 PRDM13 c.1327G>T p.G443C Substitution - Missense Pancreas COSM2006775 KMT2D c.12500G>T p.G4167V Substitution - Missense Large_intestine COSM2166364 KAT5 c.868T>C p.L290L Substitution - coding silent Stomach COSM2692766 CDYL2 c.901A>G p.S301G Substitution - Missense Large_intestine COSM3132329 WHSC1 c.2519-1delG p.? Unknown Large_intestine COSM3175975 PHIP c.3148G>T p.D1050Y Substitution - Missense Large_intestine COSM3174103 EYA4 c.699G>A p.Q233Q Substitution - coding silent Oesophagus COSM3237309 KDM3B c.2070A>G p.K690K Substitution - coding silent Large_intestine COSM3363682 TCF20 c.1410C>A p.V470V Substitution - coding silent Kidney COSM3370628 RAI1 c.13C>T p.R5* Substitution - Nonsense Thyroid COSM3397448 KMT2A c.9575C>T p.P3192L Substitution - Missense Central_nervous_system COSM3501428 TP53BP1 c.2001C>A p.I667I Substitution - coding silent Skin COSM3488856 ZMYM6 c.3690C>T p.F1230F Substitution - coding silent Skin COSM3419406 PHF13 c.629G>A p.R210Q Substitution - Missense Stomach COSM3457094 HNF1A c.546G>A p.Q182Q Substitution - coding silent Skin COSM3594793 SMARCC1 c.2317C>G p.L773V Substitution - Missense Skin COSM3545295 DNMT3B c.420C>T p.F140F Substitution - coding silent Skin COSM3562440 PHF8 c.1517G>A p.R506Q Substitution - Missense Skin COSM3548789 DIDO1 c.3857C>T p.P1286L Substitution - Missense Skin COSM3517988 HDAC5 c.571C>T p.L191F Substitution - Missense Skin COSM3716540 MSL3 c.239G>A p.R80H Substitution - Missense Prostate COSM3732372 MSH6 c.675T>C p.I225I Substitution - coding silent Stomach COSM3773280 ZBTB4 c.484G>C p.E162Q Substitution - Missense Pancreas COSM3813506 MPHOSPH8 c.360G>T p.K120N Substitution - Missense Breast COSM3815975 BAHD1 c.488G>A p.G163D Substitution - Missense Breast COSM3841018 CHD6 c.3334T>G p.W1112G Substitution - Missense Breast COSM3879602 KMT2C c.1225T>C p.C409R Substitution - Missense Stomach COSM3874531 TDRD6 c.3373A>C p.K1125Q Substitution - Missense Stomach COSM3889031 CDYL2 c.656C>T p.P219L Substitution - Missense Skin COSM3972988 L3MBTL2 c.1055G>A p.R352H Substitution - Missense Central_nervous_system COSM3985593 EPC1 c.1507A>T p.T503S Substitution - Missense Kidney COSM4109809 HDAC6 c.2962G>A p.A988T Substitution - Missense Stomach COSM4162018 KMT2C c.2315C>T p.S772L Substitution - Missense Upper_aerodigestive_tract COSM4170423 KMT2D c.7308_7309insT p.A2437fs*17 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4385567 TET2 c.1593_1594insA p.L532fs*35 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4601810 GTF3C1 c.28G>A p.E10K Substitution - Missense Upper_aerodigestive_tract COSM4426439 RAI1 c.2959G>A p.A987T Substitution - Missense Oesophagus COSM4580863 DOT1L c.1335G>A p.A445A Substitution - coding silent Large_intestine COSM4504440 CHD6 c.6659C>T p.S2220F Substitution - Missense Skin COSM4466418 WHSC1L1 c.1433C>T p.S478F Substitution - Missense Skin COSM4447960 BAHCC1 c.2902C>T p.H968Y Substitution - Missense Skin COSM4663697 ASH1L c.7804-1G>T p.? Unknown Large_intestine COSM4742962 ZMYND11 c.1157C>T p.T386M Substitution - Missense Large_intestine COSM4713978 PHF20L1 c.135C>T p.V45V Substitution - coding silent Large_intestine COSM4764961 SMYD3 c.925G>A p.V309I Substitution - Missense Large_intestine COSM4751402 NCOA1 c.384C>A p.N128K Substitution - Missense Stomach COSM4919976 TAF1 c.1448A>G p.N483S Substitution - Missense Liver COSM4976623 KMT2D c.14648G>A p.R4883Q Substitution - Missense Oesophagus COSM4980589 SET c.458C>T p.S153L Substitution - Missense Oesophagus COSM4986247 PHF23 c.256A>G p.T86A Substitution - Missense Soft_tissue COSM5014580 BAG6 c.139G>C p.A47P Substitution - Missense Kidney COSM5020616 KMT2A c.4284A>C p.I1428I Substitution - coding silent Soft_tissue COSM5051408 SETD1B c.499C>T p.R167* Substitution - Nonsense Stomach COSM5094859 SETD3 c.1051G>A p.A351T Substitution - Missense Thymus COSM5139986 PRMT1 c.121-4C>A p.? Unknown Large_intestine COSM5140045 SETD5_ENST00000402198 c.3610A>G p.N1204D Substitution - Missense Large_intestine COSM5040792 AP001011.3_ENST00000320876 c.2020G>C p.A674P Substitution - Missense Liver COSM5383265 MGA c.141C>T p.A47A Substitution - coding silent Skin COSM5363657 BRD7 c.1539T>C p.S513S Substitution - coding silent Large_intestine COSM5371767 KMT2A c.1838G>A p.R613Q Substitution - Missense Skin COSM5403282 PRDM9 c.611-1G>A p.? Unknown Skin COSM5508680 GABRG1 c.1336T>A p.F446I Substitution - Missense Biliary_tract COSM5464489 MTF2 c.1233A>G p.R411R Substitution - coding silent Large_intestine COSM5476711 PHIP c.1169G>A p.R390H Substitution - Missense Large_intestine COSM5435398 TRRAP c.1545T>C p.P515P Substitution - coding silent Oesophagus COSM5640146 TRIM66 c.3043C>T p.R1015C Substitution - Missense Oesophagus COSM5651999 ACTA1 c.1099_1123del25 p.A367fs*>3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5725710 HAT1 c.842G>A p.S281N Substitution - Missense Skin COSM5609224 KDM6A c.750T>C p.G250G Substitution - coding silent Skin COSM5614978 ATF2 c.991C>T p.H331Y Substitution - Missense Lung COSM5668069 SMCHD1 c.1652A>T p.H551L Substitution - Missense Soft_tissue COSM5687022 NCOA1 c.756G>T p.R252R Substitution - coding silent Soft_tissue COSM5708577 TBL1XR1 c.1105G>C p.D369H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5549257 SND1 c.742G>T p.A248S Substitution - Missense Prostate COSM5772937 PHF14 c.2383G>A p.D795N Substitution - Missense Breast COSM5787636 PHC1 c.2250C>A p.F750L Substitution - Missense Breast COSM5817026 MYST3 c.4983G>T p.P1661P Substitution - coding silent Liver COSM5946719 SETD2 c.5507C>T p.A1836V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5892924 SMARCC1 c.2989C>T p.P997S Substitution - Missense Skin COSM5975572 PRDM9 c.2368A>C p.N790H Substitution - Missense Upper_aerodigestive_tract COSM52954 DNMT3A c.? p.R882P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Bone COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM5991644 KMT2D c.? p.V1281fs*48 Frameshift Breast COSM41295 IDH2 c.? p.R172K Substitution - Missense Central_nervous_system COSM41295 IDH2 c.? p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM43409 TET2 c.? p.?fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43411 TET2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM43117 TET2 c.1_6009del6009 p.0? Whole gene deletion Haematopoietic_and_lymphoid_tissue COSM132894 TET2 c.(3763_3765)insA p.?fs Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4610746 KMT2C c.2680C>T p.R894W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2035866 PHRF1 c.830G>A p.R277Q Substitution - Missense Large_intestine COSM3888515 CREBBP c.3840C>T p.F1280F Substitution - coding silent Skin COSM4713976 PHF20 c.2473C>T p.P825S Substitution - Missense Large_intestine COSM4718408 PSIP1 c.708G>T p.E236D Substitution - Missense Large_intestine COSM5021863 GLYR1 c.1620T>C p.S540S Substitution - coding silent Skin COSM5021863 GLYR1 c.1620T>C p.S540S Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM53005 EZH2 c.2050C>T p.R684C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3488892 ZMYM4 c.2134G>A p.G712S Substitution - Missense Skin COSM5384146 CHD2 c.1622C>T p.P541L Substitution - Missense Skin COSM3203687 MECOM c.834T>G p.L278L Substitution - coding silent Upper_aerodigestive_tract COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM4993579 ATRX c.5619C>T p.F1873F Substitution - coding silent Skin COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM1676744 ATF7IP c.1087C>T p.R363* Substitution - Nonsense Large_intestine COSM5019040 ERCC6 c.1196G>A p.G399D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4856272 SETD2 c.1111A>G p.I371V Substitution - Missense Cervix COSM86082 KMT2C c.2418C>G p.S806S Substitution - coding silent Kidney COSM1050507 PRDM5 c.460A>G p.T154A Substitution - Missense Endometrium COSM3821291 AP001011.3_ENST00000320876 c.313C>T p.Q105* Substitution - Nonsense Breast COSM738267 PRDM9 c.2573A>T p.K858M Substitution - Missense Lung COSM159972 CHD1 c.1189C>G p.H397D Substitution - Missense Breast COSM384314 CHD3 c.725T>C p.L242P Substitution - Missense Lung COSM5353790 TDRD5 c.1485G>A p.S495S Substitution - coding silent Large_intestine COSM4151373 PRMT7 c.726C>T p.S242S Substitution - coding silent Kidney COSM5008005 EP400 c.3065C>T p.A1022V Substitution - Missense Large_intestine COSM4638647 TAF1L c.2538G>T p.M846I Substitution - Missense Large_intestine COSM308284 KMT2C c.441A>T p.Q147H Substitution - Missense Biliary_tract COSM689606 GLYATL1 c.913C>A p.R305S Substitution - Missense Lung COSM727028 EP300 c.4241A>G p.Y1414C Substitution - Missense Oesophagus COSM5967163 SETD2 c.2744_2745insT p.G916fs*2 Insertion - Frameshift Salivary_gland COSM5703212 PCGF2 c.305C>A p.P102H Substitution - Missense Autonomic_ganglia COSM144694 PHF6 c.? p.R116* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3695551 SMEK2 c.199G>C p.D67H Substitution - Missense Large_intestine COSM1496290 EHMT2 c.232G>A p.G78R Substitution - Missense Kidney COSM3545268 ASXL1 c.4146C>T p.A1382A Substitution - coding silent Skin COSM4110046 KDM5C c.2475C>T p.C825C Substitution - coding silent Stomach COSM3648825 WHSC1L1 c.1616G>T p.G539V Substitution - Missense Skin COSM706748 AKAP1 c.598G>T p.G200C Substitution - Missense Lung COSM1093602 TRRAP c.3256G>T p.G1086* Substitution - Nonsense Endometrium COSM42030 TET2 c.3869C>G p.S1290* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5501683 ZMYND8 c.2188G>A p.E730K Substitution - Missense Biliary_tract COSM286016 TRRAP c.9424C>T p.R3142W Substitution - Missense Large_intestine COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM5757974 NCOR1 c.2257C>G p.L753V Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1709319 PRMT7 c.226G>A p.G76R Substitution - Missense Skin COSM5673709 SFMBT1 c.1990delG p.A664fs*50 Deletion - Frameshift Soft_tissue COSM3547365 ZMYND8 c.343C>T p.H115Y Substitution - Missense Skin COSM3154317 PRDM1 c.1390G>A p.G464R Substitution - Missense Stomach COSM1489364 CHD7 c.7756C>T p.P2586S Substitution - Missense Breast COSM5753367 PBRM1 c.? p.V964del Deletion - In frame Kidney COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM940072 KMT2D c.3564delG p.L1189fs*44 Deletion - Frameshift Endometrium COSM4587277 KMT2C c.1017G>C p.K339N Substitution - Missense Upper_aerodigestive_tract COSM4043691 BAZ2A c.675C>A p.S225S Substitution - coding silent Stomach COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5977262 KIAA2026_ENST00000399933 c.5G>A p.S2N Substitution - Missense Upper_aerodigestive_tract COSM41294 IDH1 c.? p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM37028 EZH2 c.1937A>T p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4603590 KMT2C c.2448_2449insA p.I817fs*11 Insertion - Frameshift Upper_aerodigestive_tract COSM5348660 PHF3 c.4935_4936insT p.I1646fs*8 Insertion - Frameshift Liver COSM1254009 HDAC4 c.2229C>T p.A743A Substitution - coding silent Stomach COSM234844 KDM4C c.2778C>T p.I926I Substitution - coding silent Skin COSM4692529 INO80C c.532G>A p.V178I Substitution - Missense Large_intestine COSM53163 TET2 c.? p.I1873N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5347204 ARID1A c.?_?del? p.T2138fs*? Deletion - Frameshift Endometrium COSM4995566 INOC1 c.4627G>T p.V1543F Substitution - Missense Upper_aerodigestive_tract COSM4949762 SCML2 c.23-2A>T p.? Unknown Liver COSM1161492 GABRG1 c.1190C>T p.P397L Substitution - Missense Prostate COSM87001 DNMT3A c.2644C>A p.R882S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3749702 ACTR5 c.18C>T p.F6F Substitution - coding silent Large_intestine COSM1411076 ASXL1 c.1926_1927insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1757288 TAF1 c.3229C>G p.L1077V Substitution - Missense Urinary_tract COSM1424481 PHF7 c.1003T>A p.L335M Substitution - Missense Large_intestine COSM5730829 SETD2 c.3524G>A p.C1175Y Substitution - Missense Breast COSM3975700 PRDM1 c.988G>T p.G330C Substitution - Missense Central_nervous_system COSM3905142 GTF3C4 c.475C>T p.P159S Substitution - Missense Stomach COSM5793928 CHD8 c.3541G>A p.G1181R Substitution - Missense Breast COSM1117763 HCFC1 c.1052A>G p.Q351R Substitution - Missense Endometrium COSM4665064 BAHD1 c.1676_1677insA p.R560fs*9 Insertion - Frameshift Large_intestine COSM4383931 TET2 c.3979C>T p.Q1327* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4487109 RBBP5 c.313C>T p.R105* Substitution - Nonsense Skin COSM1469185 ZMYM3 c.252delG p.L85fs*28 Deletion - Frameshift Breast COSM4767752 SETD2 c.112C>T p.R38* Substitution - Nonsense Biliary_tract COSM3097195 ATRX c.465A>C p.E155D Substitution - Missense Upper_aerodigestive_tract COSM1469185 ZMYM3 c.252delG p.L85fs*28 Deletion - Frameshift Large_intestine COSM108018 TAF1L c.2349C>T p.I783I Substitution - coding silent Liver COSM3520816 SMARCD2 c.48G>A p.Q16Q Substitution - coding silent Skin COSM3508990 SETD1A c.3131C>T p.S1044F Substitution - Missense Skin COSM5753517 JMJD1C c.5356G>A p.E1786K Substitution - Missense Large_intestine COSM307185 BAP1 c.700_702delGTG p.V234del Deletion - In frame Pleura COSM5744195 TRIM28 c.2381C>T p.T794M Substitution - Missense Small_intestine COSM1103005 TDRD7 c.1359A>C p.T453T Substitution - coding silent Endometrium COSM3501430 TP53BP1 c.1900C>T p.R634* Substitution - Nonsense Large_intestine COSM5893921 JMJD6 c.725G>A p.R242Q Substitution - Missense Skin COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM88090 KMT2D c.15691C>T p.R5231* Substitution - Nonsense Upper_aerodigestive_tract COSM1752674 PCGF1 c.15C>A p.N5K Substitution - Missense Urinary_tract COSM1685353 SETBP1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5562063 PCGF2 c.859C>A p.P287T Substitution - Missense Prostate COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Biliary_tract COSM5513609 DNMT3B c.2467C>T p.R823C Substitution - Missense Biliary_tract COSM3805345 KDM4A c.1276G>C p.E426Q Substitution - Missense Breast COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4541950 ATAT1 c.309G>A p.K103K Substitution - coding silent Skin COSM3475152 LMNA c.312G>A p.L104L Substitution - coding silent Skin COSM1713595 EYA2 c.683G>A p.G228E Substitution - Missense Skin COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM418799 ATAD2B_ENST00000238789 c.2736C>G p.L912L Substitution - coding silent Urinary_tract COSM144216 ATRX c.5399T>C p.M1800T Substitution - Missense Central_nervous_system COSM1045650 SMARCC1 c.2541A>G p.E847E Substitution - coding silent Endometrium COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1176902 BAZ1B c.1556G>A p.R519Q Substitution - Missense Endometrium COSM4889063 ASXL3 c.109C>G p.P37A Substitution - Missense Upper_aerodigestive_tract COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1221884 PRDM16 c.2534C>T p.A845V Substitution - Missense Large_intestine COSM3738949 PRDM10 c.2432C>T p.P811L Substitution - Missense Liver COSM123323 GATAD2B c.1757C>T p.S586L Substitution - Missense Endometrium COSM3931446 RSF1 c.1377A>C p.P459P Substitution - coding silent Urinary_tract COSM4411656 GATAD2A c.1377G>A p.A459A Substitution - coding silent Oesophagus COSM971434 CHD9 c.7032G>T p.K2344N Substitution - Missense Endometrium COSM255009 KDM6A c.4129C>T p.Q1377* Substitution - Nonsense Urinary_tract COSM1161683 ACTB c.77C>A p.A26D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4849197 EP300 c.5155C>T p.Q1719* Substitution - Nonsense Cervix COSM4988906 PRDM9 c.1907A>T p.Y636F Substitution - Missense Soft_tissue COSM1169578 PBRM1 c.2125_2125delA p.I709fs*5 Deletion - Frameshift Kidney COSM5514449 MYST3 c.1902+9G>T p.? Unknown Biliary_tract COSM3659714 PHF2 c.1092C>T p.P364P Substitution - coding silent Skin COSM4581963 DIDO1 c.3718A>C p.K1240Q Substitution - Missense Bone COSM5402172 BRD8 c.2062C>T p.P688S Substitution - Missense Skin COSM5762965 TET2 c.3885C>G p.Y1295* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM76524 SMARCA4 c.2441C>A p.T814K Substitution - Missense Ovary COSM3568251 BAZ2B c.5783C>T p.S1928L Substitution - Missense Skin COSM900291 TDRD5 c.96G>T p.E32D Substitution - Missense Endometrium COSM226087 MBD4 c.1387A>G p.T463A Substitution - Missense Skin COSM3967237 HELLS c.1941G>A p.G647G Substitution - coding silent Central_nervous_system COSM96419 EP300 c.4195G>T p.D1399Y Substitution - Missense Stomach COSM1293297 TAF3 c.1866T>A p.D622E Substitution - Missense Cervix COSM5346928 ARID1A c.4315_4355del41 p.A1439fs*38 Deletion - Frameshift Endometrium COSM307767 ASXL1 c.1902_1924del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5892588 HDAC1 c.50G>A p.G17E Substitution - Missense Skin COSM3919748 NSD1 c.6376G>C p.D2126H Substitution - Missense Skin COSM4059637 GTF3C1 c.5975G>T p.G1992V Substitution - Missense Stomach COSM72768 SP100 c.406G>A p.D136N Substitution - Missense Endometrium COSM260097 CHD8 c.3207C>A p.F1069L Substitution - Missense Large_intestine COSM4054369 BAHD1 c.1744C>T p.R582C Substitution - Missense Stomach COSM4153251 BAG6 c.1354C>G p.H452D Substitution - Missense Ovary COSM5834210 BRD1 c.1587delG p.H530fs*9 Deletion - Frameshift Breast COSM1716901 EZH2 c.492_493insGT p.F165fs*3 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM133037 ASXL1 c.2066C>G p.S689* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM255123 MEN1 c.? p.G156V Substitution - Missense Parathyroid COSM5708973 TET2 c.5189A>G p.D1730G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4504056 EP400 c.6553C>T p.L2185L Substitution - coding silent Skin COSM4040527 ATF7IP c.491C>T p.P164L Substitution - Missense Stomach COSM3775262 SFMBT1 c.1027C>T p.L343L Substitution - coding silent Urinary_tract COSM5020013 TET2 c.5162T>G p.L1721W Substitution - Missense Soft_tissue COSM80508 SETD1A c.3282G>T p.V1094V Substitution - coding silent Ovary COSM4827149 KDM5C c.2067C>T p.I689I Substitution - coding silent Cervix COSM2150850 RBBP5 c.1258C>T p.P420S Substitution - Missense Central_nervous_system COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4838088 AP001011.3_ENST00000320876 c.2848C>T p.Q950* Substitution - Nonsense Cervix COSM5970813 CHD4 c.397_399delAAG p.K133delK Deletion - In frame Upper_aerodigestive_tract COSM124867 NSD1 c.6371G>A p.C2124Y Substitution - Missense Upper_aerodigestive_tract COSM5583768 KMT2C c.10511C>G p.T3504S Substitution - Missense Skin COSM4070286 KDM6B c.1287G>A p.A429A Substitution - coding silent Stomach COSM1161462 SMARCC1 c.1545G>C p.L515F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1680490 DOT1L c.3950C>T p.T1317I Substitution - Missense Large_intestine COSM4717488 PRDM16 c.1424delC p.S477fs*63 Deletion - Frameshift Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3734998 ASXL1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1611160 AP001011.3_ENST00000320876 c.4069A>G p.I1357V Substitution - Missense Liver COSM4158096 DHX30 c.2015T>C p.L672P Substitution - Missense Thyroid COSM1665652 PBRM1 c.4510_4512delCTG p.L1504delL Deletion - In frame Kidney COSM3253948 MLL5 c.2310A>G p.Q770Q Substitution - coding silent Pancreas COSM4538824 BRD8 c.2388G>A p.M796I Substitution - Missense Skin COSM4554357 TRIM24 c.619G>A p.E207K Substitution - Missense Skin COSM4954279 TRIM28 c.530G>C p.C177S Substitution - Missense Liver COSM53031 EZH2 c.965A>G p.N322S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1743682 L3MBTL2 c.2070A>G p.P690P Substitution - coding silent Biliary_tract COSM2777561 KIAA2026_ENST00000399933 c.3588A>T p.L1196F Substitution - Missense Stomach COSM1100800 CHD7 c.2572C>T p.R858* Substitution - Nonsense Endometrium COSM3359719 KDM5A c.3265A>T p.R1089W Substitution - Missense Kidney COSM423810 VPS72 c.70G>A p.E24K Substitution - Missense Breast COSM3423640 ACTR5 c.804T>G p.Y268* Substitution - Nonsense Large_intestine COSM3751837 ERCC6 c.3289A>G p.M1097V Substitution - Missense Soft_tissue COSM931224 SUV420H1 c.83A>T p.N28I Substitution - Missense Endometrium COSM1319528 ZBTB33 c.230T>A p.I77N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1699540 EZH2 c.1040G>A p.R347Q Substitution - Missense Skin COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Biliary_tract COSM4632006 MEN1 c.1300G>A p.V434M Substitution - Missense Large_intestine COSM40331 KMT2A c.6473G>A p.G2158D Substitution - Missense Central_nervous_system COSM6008923 EP300 c.4306T>C p.W1436R Substitution - Missense Large_intestine COSM5707553 BRWD1 c.5021T>G p.L1674* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1266238 SMARCA4 c.3575G>A p.R1192H Substitution - Missense Skin COSM1999579 KDM1A c.465C>T p.P155P Substitution - coding silent Large_intestine COSM36165 ASXL1 c.1900_1922del23 p.E635fs*15 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3674598 ARID1B c.1558C>T p.Q520* Substitution - Nonsense Prostate COSM961536 MGA c.7548C>A p.A2516A Substitution - coding silent Endometrium COSM5375651 BAZ2A_ENST00000379441 c.2072G>C p.R691P Substitution - Missense Skin COSM1583115 DNMT3A c.2318T>C p.L773P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3475159 LMNA c.984C>T p.A328A Substitution - coding silent Skin COSM1568608 TRIM24 c.2155C>T p.P719S Substitution - Missense Large_intestine COSM419228 BRWD1 c.2905C>T p.R969* Substitution - Nonsense Large_intestine COSM2164488 MEN1 c.686G>A p.R229H Substitution - Missense Large_intestine COSM5626798 NCOA6 c.1854A>G p.P618P Substitution - coding silent Oesophagus COSM1738286 HDAC9 c.1757G>A p.R586H Substitution - Missense Ovary COSM5625407 HDAC6 c.927G>C p.W309C Substitution - Missense Oesophagus COSM5104135 BAHCC1 c.1671delG p.G559fs*75 Deletion - Frameshift Large_intestine COSM1486316 BRD8 c.3302C>G p.P1101R Substitution - Missense Breast COSM1109527 UHRF2 c.618C>T p.D206D Substitution - coding silent Endometrium COSM3523596 BAHCC1 c.6419C>T p.P2140L Substitution - Missense Skin COSM5987133 MLL5 c.3509_3510delGG p.R1170fs*5 Deletion - Frameshift Salivary_gland COSM1443399 EHMT2 c.317G>A p.R106Q Substitution - Missense Large_intestine COSM3649293 MYST3 c.4482C>T p.V1494V Substitution - coding silent Skin COSM1751678 AIRE c.1147G>A p.E383K Substitution - Missense Urinary_tract COSM391270 MTA1 c.225delG p.D76fs*8 Deletion - Frameshift Lung COSM5470258 ARID4A c.2592G>A p.S864S Substitution - coding silent Large_intestine COSM4169850 KDM5C c.? p.L1305fs*5 Unknown Adrenal_gland COSM1235383 BAP1 c.790_790delA p.R264fs*2 Deletion - Frameshift Eye COSM3649298 MYST3 c.3581C>T p.S1194F Substitution - Missense Skin COSM219580 PHIP c.1285A>G p.M429V Substitution - Missense Breast COSM1513902 RNF17 c.486C>T p.F162F Substitution - coding silent Urinary_tract COSM1426601 PRDM5 c.1525C>T p.R509W Substitution - Missense Breast COSM5345134 BAG6 c.674G>A p.R225Q Substitution - Missense Large_intestine COSM110792 TET2 c.2392G>T p.E798* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1230643 TRRAP c.10766G>A p.R3589Q Substitution - Missense Large_intestine COSM3630859 ACTL6B c.1202G>A p.G401D Substitution - Missense Skin COSM1087523 KMT2C c.13000C>T p.R4334W Substitution - Missense Large_intestine COSM1087625 KMT2C c.3523G>A p.D1175N Substitution - Missense Endometrium COSM4663229 ARID1A c.4399delC p.P1468fs*13 Deletion - Frameshift Biliary_tract COSM5762343 INOC1 c.4131C>T p.S1377S Substitution - coding silent Lung COSM3416906 SMARCD1 c.566A>G p.K189R Substitution - Missense Large_intestine COSM1693762 MECOM c.2923G>A p.E975K Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4528770 RNF17 c.1561G>A p.G521R Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4754215 AIRE c.166C>A p.P56T Substitution - Missense Stomach COSM274042 ARID4A c.3483G>A p.P1161P Substitution - coding silent Endometrium COSM4159761 NSD1 c.6903G>C p.G2301G Substitution - coding silent Skin COSM1583097 DNMT3A c.2147T>A p.V716D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM255460 HDAC9 c.277C>A p.L93I Substitution - Missense Central_nervous_system COSM5801861 KDM6A c.1631_1632insA p.L545fs*8 Insertion - Frameshift Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4384736 KMT2D c.4712C>T p.A1571V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM5823107 BAZ2B c.1091A>G p.K364R Substitution - Missense Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1621725 TDRD6 c.2247T>C p.F749F Substitution - coding silent Liver COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2931339 DIDO1 c.248G>A p.R83H Substitution - Missense Large_intestine COSM3296318 EPC2 c.2298T>C p.S766S Substitution - coding silent Upper_aerodigestive_tract COSM28748 IDH1 c.394C>A p.R132S Substitution - Missense Central_nervous_system COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4834303 ARID4A c.108G>A p.V36V Substitution - coding silent Cervix COSM1644424 BAP1 c.907G>C p.A303P Substitution - Missense Salivary_gland COSM1716175 EZH2 c.? p.Y646F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4494741 KMT2A c.4395C>T p.R1465R Substitution - coding silent Skin COSM3008219 PRDM5 c.1198G>A p.E400K Substitution - Missense Parathyroid COSM245105 JARID2 c.2448+1G>C p.? Unknown Prostate COSM4541323 DIDO1 c.2984G>C p.R995T Substitution - Missense Skin COSM3427011 RUVBL1 c.385G>A p.E129K Substitution - Missense Large_intestine COSM4663254 ARID1B c.4182G>A p.S1394S Substitution - coding silent Large_intestine COSM4798745 CBX2 c.75C>A p.G25G Substitution - coding silent Liver COSM1978062 PRDM10 c.179C>T p.S60L Substitution - Missense Skin COSM4666259 BRWD3 c.5001C>G p.T1667T Substitution - coding silent Large_intestine COSM4384046 NSD1 c.796A>G p.T266A Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1738050 TET2 c.? p.P419fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM84463 MBD3 c.409-3C>T p.? Unknown Pancreas COSM1179473 KAT6B c.1520C>A p.S507* Substitution - Nonsense Prostate COSM4590631 GLYR1 c.1377C>G p.H459Q Substitution - Missense Upper_aerodigestive_tract COSM4989851 CREBBP c.? p.P1053L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1441830 ARID1B c.5619C>T p.D1873D Substitution - coding silent Large_intestine COSM51237 ARID1A c.1804G>T p.E602* Substitution - Nonsense Ovary COSM3734328 CREBBP c.6484G>C p.G2162R Substitution - Missense Pancreas COSM896911 ASH1L c.6792A>G p.K2264K Substitution - coding silent Endometrium COSM3784228 TAF1L c.3481G>A p.G1161R Substitution - Missense Prostate COSM4922617 TRDMT1 c.450T>C p.S150S Substitution - coding silent Liver COSM5498093 SETD8 c.562C>T p.R188* Substitution - Nonsense Biliary_tract COSM3495811 BAZ1A c.744G>A p.T248T Substitution - coding silent Skin COSM1387267 KDM6B c.2222delC p.T743fs*39 Deletion - Frameshift Large_intestine COSM1167991 ARID2 c.890C>T p.S297F Substitution - Missense Skin COSM5012579 BAZ2A c.3942C>A p.S1314R Substitution - Missense Kidney COSM1419557 ZBTB38 c.2884G>A p.V962M Substitution - Missense Large_intestine COSM972487 CTCF c.1129C>T p.R377C Substitution - Missense Endometrium COSM3940593 PBRM1 c.1864A>G p.R622G Substitution - Missense Oesophagus COSM22653 MEN1 c.135G>T p.E45D Substitution - Missense Parathyroid COSM51426 ARID1A c.1687C>T p.Q563* Substitution - Nonsense Ovary COSM51388 ASXL1 c.2077C>T p.R693* Substitution - Nonsense Pancreas COSM53095 DNMT3A c.2196_2197insT p.E733fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM76709 TET1 c.5118T>A p.H1706Q Substitution - Missense Ovary COSM75247 LMNA c.767T>G p.V256G Substitution - Missense Ovary COSM71167 ING4 c.316C>T p.R106C Substitution - Missense Ovary COSM107494 TRRAP c.2165C>T p.S722F Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM99026 TIF1 c.1495C>T p.P499S Substitution - Missense Stomach COSM110744 TET2 c.444_445insA p.E149fs*13 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM87145 TET2 c.4011T>A p.Y1337* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM163704 PRDM1 c.2077G>C p.E693Q Substitution - Missense Breast COSM164279 SETD2 c.5686C>T p.R1896* Substitution - Nonsense Skin COSM219574 PHF16 c.2094G>T p.L698F Substitution - Missense Breast COSM213803 YEATS4 c.509C>G p.T170R Substitution - Missense Breast COSM220680 KMT2D c.12796C>T p.R4266* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM243230 BRD1 c.2825C>T p.S942F Substitution - Missense Prostate COSM245966 NCOA3 c.3756G>A p.Q1252Q Substitution - coding silent Urinary_tract COSM255115 MEN1 c.288_308del21 p.I97_L103del Deletion - In frame Parathyroid COSM275626 KAT2B c.1483G>T p.E495* Substitution - Nonsense Large_intestine COSM277638 TDRD6 c.4856C>T p.A1619V Substitution - Missense Large_intestine COSM274169 BRWD1 c.3007G>T p.E1003* Substitution - Nonsense Large_intestine COSM297755 GATAD2B c.1521G>A p.T507T Substitution - coding silent Large_intestine COSM291735 CREBBP c.5039_5041delCCT p.S1680delS Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM294310 DIDO1 c.1172C>T p.A391V Substitution - Missense Large_intestine COSM327313 PHF6 c.346C>T p.R116* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM345453 MECOM c.1147G>A p.E383K Substitution - Missense Lung COSM371908 GABRG1 c.1074C>A p.T358T Substitution - coding silent Lung COSM422802 PBRM1 c.3028C>T p.R1010* Substitution - Nonsense Kidney COSM449592 NIPBL c.2675G>T p.S892I Substitution - Missense Breast COSM471643 SRCAP c.5817T>C p.R1939R Substitution - coding silent Kidney COSM470685 TP53BP1 c.2189A>C p.K730T Substitution - Missense Kidney COSM985472 CHD3 c.2916C>A p.V972V Substitution - coding silent Endometrium COSM1025716 ASXL1 c.359G>A p.S120N Substitution - Missense Endometrium COSM745867 KMT2C c.5803C>T p.P1935S Substitution - Missense Lung COSM926762 RAG2 c.362C>A p.T121N Substitution - Missense Endometrium COSM1108251 TAF1L c.585G>A p.L195L Substitution - coding silent Endometrium COSM1132079 CHD1 c.2699G>A p.R900Q Substitution - Missense Breast COSM1087540 KMT2C c.11455G>T p.G3819* Substitution - Nonsense Endometrium COSM1106545 BRD3 c.1272G>A p.A424A Substitution - coding silent Endometrium COSM1263124 PRMT10 c.954-1G>A p.? Unknown Oesophagus COSM1267362 TAF1L c.4360C>T p.R1454C Substitution - Missense Stomach COSM1193168 PRMT1 c.775G>T p.A259S Substitution - Missense Lung COSM1161911 KDM5C c.4219delG p.D1407fs*5 Deletion - Frameshift Kidney COSM1312273 TDRD6 c.5605C>G p.L1869V Substitution - Missense Urinary_tract COSM1299450 KMT2D c.1709C>G p.S570C Substitution - Missense Urinary_tract COSM1394648 KDM4B c.1851G>C p.R617R Substitution - coding silent Large_intestine COSM1381186 SMYD4 c.72G>T p.Q24H Substitution - Missense Large_intestine COSM1439492 PRDM1 c.209A>G p.Y70C Substitution - Missense Large_intestine COSM1439943 HDAC2 c.1229C>T p.A410V Substitution - Missense Large_intestine COSM1463733 PHF2 c.1883C>T p.A628V Substitution - Missense Large_intestine COSM1463737 PHF2 c.2949A>T p.P983P Substitution - coding silent Kidney COSM1348875 SFMBT2 c.1809-1G>T p.? Unknown Large_intestine COSM1363776 CHD4 c.417G>T p.E139D Substitution - Missense Soft_tissue COSM1349252 TAF3 c.1079A>C p.K360T Substitution - Missense Large_intestine COSM1357563 TRIM66 c.3338G>A p.R1113H Substitution - Missense Large_intestine COSM1565740 NCOA3 c.3765G>A p.Q1255Q Substitution - coding silent Large_intestine COSM1479017 PRMT7 c.984G>T p.V328V Substitution - coding silent Breast COSM1488103 MLL5 c.4214C>T p.S1405L Substitution - Missense Upper_aerodigestive_tract COSM1610772 ZBTB4 c.219C>T p.G73G Substitution - coding silent Liver COSM1587033 ZMYM2 c.190G>A p.E64K Substitution - Missense Endometrium COSM1667918 SETDB1 c.3709G>A p.V1237M Substitution - Missense Ovary COSM1673058 STK31 c.1741A>C p.I581L Substitution - Missense Large_intestine COSM1675218 ERCC6 c.4333G>T p.A1445S Substitution - Missense Kidney COSM1697959 L3MBTL3 c.823_825CCT>TGC p.P275C Substitution - Missense Skin COSM1713997 BRWD1 c.1123C>T p.Q375* Substitution - Nonsense Skin COSM1740905 TDRD3 c.947_949delATC p.H316delH Deletion - In frame Haematopoietic_and_lymphoid_tissue COSM1733993 PRDM9 c.760C>A p.P254T Substitution - Missense Pancreas COSM2153593 PRDM12 c.541G>A p.G181S Substitution - Missense Central_nervous_system COSM2780469 SFMBT1 c.404G>A p.R135Q Substitution - Missense Ovary COSM2810321 ASXL3 c.1200T>C p.S400S Substitution - coding silent Large_intestine COSM2874656 NCOA2 c.847C>T p.L283L Substitution - coding silent Large_intestine COSM2950007 BRPF1 c.1086C>T p.F362F Substitution - coding silent Large_intestine COSM3353148 TDRD6 c.5857C>T p.R1953C Substitution - Missense Large_intestine COSM3365410 PBRM1 c.726C>G p.Y242* Substitution - Nonsense Kidney COSM3358468 BAP1 c.848delA p.E283fs*52 Deletion - Frameshift Kidney COSM3376253 ARID2 c.3095A>G p.Q1032R Substitution - Missense Pancreas COSM3410217 PRDM9 c.897A>G p.R299R Substitution - coding silent Central_nervous_system COSM3405403 PRDM15 c.889C>T p.P297S Substitution - Missense Central_nervous_system COSM3432090 ATAD2 c.3014G>A p.R1005Q Substitution - Missense Large_intestine COSM3428419 WHSC1 c.495G>A p.A165A Substitution - coding silent Biliary_tract COSM3420092 SMEK1 c.701G>A p.R234Q Substitution - Missense Large_intestine COSM3642780 TRRAP c.4866C>T p.F1622F Substitution - coding silent Skin COSM3631992 PHF14 c.2802T>C p.N934N Substitution - coding silent Skin COSM3598241 BRPF1 c.1909C>T p.L637F Substitution - Missense Skin COSM3594792 SMARCC1 c.3189C>T p.P1063P Substitution - coding silent Skin COSM3547669 ADNP c.1867C>T p.L623F Substitution - Missense Skin COSM3550996 PRDM15 c.1623C>T p.G541G Substitution - coding silent Skin COSM3567433 MBD5 c.1048C>T p.P350S Substitution - Missense Stomach COSM3529619 BRD4 c.33G>T p.L11F Substitution - Missense Skin COSM3650703 EYA1 c.1729C>T p.H577Y Substitution - Missense Skin COSM3697158 NSD1 c.5950C>T p.R1984* Substitution - Nonsense Large_intestine COSM3698284 KMT2C c.9841A>G p.M3281V Substitution - Missense Large_intestine COSM3667019 ASH1L c.6346G>T p.E2116* Substitution - Nonsense Liver COSM3669282 GABRG1 c.72C>T p.V24V Substitution - coding silent Liver COSM3665807 JMJD1C c.1022A>G p.D341G Substitution - Missense Liver COSM3719601 PHF6 c.1018G>A p.E340K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3830676 TDRD6 c.2989G>A p.D997N Substitution - Missense Breast COSM3883722 TRRAP c.4317C>T p.S1439S Substitution - coding silent Stomach COSM3980834 KDM2B c.2527G>C p.G843R Substitution - Missense Ovary COSM4015130 JMJD1C c.607G>A p.A203T Substitution - Missense Stomach COSM4020874 TRIM33 c.554G>A p.R185H Substitution - Missense Stomach COSM4054469 INOC1 c.1820T>G p.V607G Substitution - Missense Stomach COSM3995650 ACTB c.478A>G p.T160A Substitution - Missense Kidney COSM4110240 PHF8 c.1138C>T p.R380C Substitution - Missense Stomach COSM4068935 BPTF c.6693A>C p.T2231T Substitution - coding silent Stomach COSM4061907 CTCF c.1655C>A p.P552H Substitution - Missense Stomach COSM4387452 BAP1 c.122+1G>T p.? Unknown Eye COSM4385409 ATRX c.6464G>T p.G2155V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4383782 TET2 c.1103delA p.E368fs*4 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4385267 EP300 c.7061C>T p.A2354V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4598330 BAHCC1 c.5215A>C p.T1739P Substitution - Missense Upper_aerodigestive_tract COSM4596520 NCOA7 c.2723A>T p.D908V Substitution - Missense Upper_aerodigestive_tract COSM4433661 ASXL1 c.634C>T p.L212L Substitution - coding silent Oesophagus COSM4519083 SETDB2 c.956_957CC>TT p.P319L Substitution - Missense Skin COSM4523290 MBD6 c.1207G>T p.E403* Substitution - Nonsense Skin COSM4533187 BAP1 c.1954G>A p.E652K Substitution - Missense Skin COSM4535969 HDAC9 c.2254G>A p.G752S Substitution - Missense Skin COSM4475175 CHD3 c.1791C>T p.S597S Substitution - coding silent Skin COSM4445259 DAXX c.1176_1180delAAAGA p.R394fs*22 Deletion - Frameshift Adrenal_gland COSM4717478 PRDM15 c.4136C>T p.A1379V Substitution - Missense Large_intestine COSM4742165 ZBTB4 c.1080G>A p.T360T Substitution - coding silent Large_intestine COSM4606656 INOC1 c.1991G>T p.R664L Substitution - Missense Adrenal_gland COSM4648104 BAHCC1 c.6939C>T p.R2313R Substitution - coding silent Large_intestine COSM4788451 CREBBP c.4157C>G p.S1386C Substitution - Missense Liver COSM4778305 KAT5 c.577G>A p.V193M Substitution - Missense Liver COSM4886099 PWWP2B c.823G>T p.G275C Substitution - Missense Upper_aerodigestive_tract COSM4929926 CREBBP c.1784A>G p.H595R Substitution - Missense Liver COSM4829383 KMT2D c.613C>A p.L205I Substitution - Missense Cervix COSM4876516 NIPBL c.6043A>G p.I2015V Substitution - Missense Prostate COSM4951240 AP001011.3_ENST00000320876 c.530A>T p.K177I Substitution - Missense Liver COSM4949632 ARID1A c.1918C>G p.P640A Substitution - Missense Liver COSM4957735 SMCHD1 c.3239A>G p.Q1080R Substitution - Missense Liver COSM4955759 RAD54L c.723G>A p.L241L Substitution - coding silent Liver COSM4992840 TIF1 c.2838T>C p.N946N Substitution - coding silent Skin COSM5011139 ATXN7 c.419C>A p.P140Q Substitution - Missense Kidney COSM5014774 KMT2C c.5233T>A p.S1745T Substitution - Missense Kidney COSM5416085 SETD2 c.2367delG p.Q789fs*40 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5367186 TAF1 c.900A>T p.P300P Substitution - coding silent Large_intestine COSM5490622 ARID2 c.4466C>G p.S1489* Substitution - Nonsense Biliary_tract COSM5505598 BAZ2B c.2194+5C>G p.? Unknown Biliary_tract COSM5470020 HDAC7 c.156G>A p.T52T Substitution - coding silent Large_intestine COSM5470136 ZMYM2 c.1304G>A p.R435H Substitution - Missense Large_intestine COSM5487498 ATRX c.919A>T p.K307* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5642018 HDAC6 c.2639G>T p.G880V Substitution - Missense Oesophagus COSM5626918 EHMT2 c.2082G>A p.Q694Q Substitution - coding silent Oesophagus COSM5645257 NCOA7 c.2356A>G p.M786V Substitution - Missense Oesophagus COSM5715653 INOC1 c.3583G>A p.D1195N Substitution - Missense Skin COSM5580984 EYA1 c.1274G>A p.R425Q Substitution - Missense Skin COSM5602077 PHRF1 c.4640C>T p.P1547L Substitution - Missense Skin COSM5606649 MYST3 c.1689C>T p.F563F Substitution - coding silent Skin COSM5611044 TRRAP c.3310G>A p.E1104K Substitution - Missense Skin COSM5663535 BRD3 c.2019G>A p.Q673Q Substitution - coding silent Soft_tissue COSM5714517 ATRX c.3737-4C>G p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5708778 SETD2 c.460A>T p.K154* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5547046 PSIP1 c.552_553+25del27 p.? Unknown Prostate COSM5880305 PHF6 c.731_732delTG p.L244fs*20 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5806755 ZBTB38 c.996G>A p.P332P Substitution - coding silent Liver COSM5945073 TET2 c.5735A>G p.H1912R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5928841 PHF10 c.368A>T p.N123I Substitution - Missense Skin COSM5996563 TDRD6 c.2765G>A p.C922Y Substitution - Missense Prostate COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM166348 DNMT3A c.? p.? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM41295 IDH2 c.? p.R172K Substitution - Missense Oesophagus COSM132991 ASXL1 c.? p.E797fs*3 Frameshift Haematopoietic_and_lymphoid_tissue COSM53220 IDH1 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM307188 BAP1 c.1_375del375 p.M1_E125del Deletion - In frame Pleura COSM5347207 ARID1A c.?_?del? p.Q548fs*? Deletion - Frameshift Endometrium COSM5945807 BAP1 c.? p.Y44* Substitution - Nonsense Pericardium COSM4169541 TET2 c.? p.N1567S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1462008 TAF1L c.2380G>A p.E794K Substitution - Missense Skin COSM5944506 TET2 c.2735_2736insA p.Q913fs*11 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5944270 TET2 c.2522delT p.S842fs*31 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3710799 BAZ2A c.3307G>T p.G1103C Substitution - Missense Upper_aerodigestive_tract COSM36248 IDH1 c.? p.R132? Substitution - Missense Central_nervous_system COSM5927999 ARID1A c.1489C>T p.Q497* Substitution - Nonsense Skin COSM1246198 BPTF c.8239A>C p.K2747Q Substitution - Missense Oesophagus COSM5752272 KMT2C c.13053delA p.K4351fs*5 Deletion - Frameshift Breast COSM21481 HNF1A c.872_873insC p.G292fs*25 Insertion - Frameshift Liver COSM1732187 PBRM1 c.2351_2354delATCT p.N784fs*6 Deletion - Frameshift Kidney COSM1137861 ELP3 c.505G>A p.V169M Substitution - Missense Kidney COSM3508969 SETD1A c.731C>T p.S244F Substitution - Missense Skin COSM4410659 MYST2 c.326A>G p.D109G Substitution - Missense Kidney COSM3914349 KDM5D c.1870C>G p.R624G Substitution - Missense Skin COSM371776 GTF3C1 c.2127G>T p.Q709H Substitution - Missense Lung COSM211643 TET2 c.3782G>A p.R1261H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1632650 BRD1 c.566T>A p.L189Q Substitution - Missense Liver COSM3805965 RERE c.1907T>G p.V636G Substitution - Missense Breast COSM956538 ARID4A c.2857G>A p.G953R Substitution - Missense Endometrium COSM961974 TP53BP1 c.4569C>T p.Y1523Y Substitution - coding silent Large_intestine COSM51518 IDH1 c.298C>T p.R100* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3580219 NCOA1 c.1608C>T p.I536I Substitution - coding silent Skin COSM1179671 KMT2C c.925C>T p.P309S Substitution - Missense Upper_aerodigestive_tract COSM470408 SETD3 c.57T>C p.T19T Substitution - coding silent Kidney COSM927115 PHF21A c.837G>T p.Q279H Substitution - Missense Endometrium COSM2154642 EYA4 c.867G>A p.T289T Substitution - coding silent Large_intestine COSM4816698 EHMT2 c.3321C>T p.I1107I Substitution - coding silent Cervix COSM3446369 SIRT3 c.529G>A p.E177K Substitution - Missense Skin COSM1114813 SMARCA1 c.668G>A p.G223D Substitution - Missense Endometrium COSM1034511 EP300 c.181delA p.I61fs*55 Deletion - Frameshift Endometrium COSM211663 TET2 c.763C>T p.Q255* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM379565 RAG2 c.342C>G p.C114W Substitution - Missense Lung COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Bone COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Central_nervous_system COSM5025623 MSH6 c.3418A>T p.K1140* Substitution - Nonsense Breast COSM1433380 KDM3B c.3046+1G>A p.? Unknown Large_intestine COSM920523 KAT6B c.1635T>C p.D545D Substitution - coding silent Endometrium COSM4162008 KMT2C c.2578C>T p.P860S Substitution - Missense Thyroid COSM1685352 IDH2 c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM306072 EZH2 c.2051G>A p.R684H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3699894 EPC1 c.536T>G p.I179S Substitution - Missense Liver COSM4613567 SP110 c.691_692insC p.Q231fs*5 Insertion - Frameshift Large_intestine COSM1753513 PRDM5 c.769C>T p.R257W Substitution - Missense Urinary_tract COSM5789312 EP300 c.4228A>T p.R1410W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1609212 SRCAP c.8145_8146insG p.P2716fs*12 Insertion - Frameshift Liver COSM3376721 POGZ c.1367A>G p.N456S Substitution - Missense Pancreas COSM5553253 ATAD2 c.928G>T p.E310* Substitution - Nonsense Prostate COSM4002022 BRWD1 c.247C>G p.Q83E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM255105 MEN1 c.? p.E45V Substitution - Missense Parathyroid COSM3997843 MGMT c.250C>T p.L84F Substitution - Missense Soft_tissue COSM4756591 DPF2 c.962G>A p.R321H Substitution - Missense Stomach COSM1564350 KDM4B c.3125C>T p.T1042M Substitution - Missense Large_intestine COSM4597323 CBX4 c.712A>C p.K238Q Substitution - Missense Upper_aerodigestive_tract COSM3712215 SMYD4 c.99G>T p.L33F Substitution - Missense Upper_aerodigestive_tract COSM1045660 SMARCC1 c.1805G>A p.R602H Substitution - Missense Stomach COSM4774846 SUZ12 c.1738G>T p.E580* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4486698 KDM4A c.3090C>T p.F1030F Substitution - coding silent Skin COSM5344489 SETD2 c.4064C>G p.P1355R Substitution - Missense Large_intestine COSM907723 ARID1A c.4003C>T p.R1335* Substitution - Nonsense Endometrium COSM3929287 TRRAP c.1825G>A p.G609R Substitution - Missense Central_nervous_system COSM422737 BAP1 c.335T>C p.L112P Substitution - Missense Kidney COSM1253880 GTF3C1 c.4197-1G>A p.? Unknown Oesophagus COSM303913 DNMT3A c.? p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4274748 ASXL3 c.547T>A p.F183I Substitution - Missense Large_intestine COSM5497609 NCOA1 c.2693C>T p.A898V Substitution - Missense Biliary_tract COSM1287832 SETBP1 c.3605A>G p.E1202G Substitution - Missense Autonomic_ganglia COSM488144 HCFC1 c.5763G>A p.M1921I Substitution - Missense Kidney COSM1159266 SP100 c.2334G>T p.L778L Substitution - coding silent Pancreas COSM1622715 STK31 c.777A>T p.L259F Substitution - Missense Liver COSM164341 SIRT5 c.787C>G p.Q263E Substitution - Missense Breast COSM457736 SMC1A c.868G>C p.E290Q Substitution - Missense Breast COSM5789313 BAP1 c.755G>C p.R252P Substitution - Missense Breast COSM1108534 KIAA1045 c.796C>T p.P266S Substitution - Missense Endometrium COSM1314176 PRDM14 c.1337G>A p.R446Q Substitution - Missense Urinary_tract COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1228835 TDRD6 c.809G>A p.R270H Substitution - Missense Large_intestine COSM1380016 CDYL2 c.1419C>T p.D473D Substitution - coding silent Large_intestine COSM5973649 SP100 c.134A>G p.D45G Substitution - Missense Upper_aerodigestive_tract COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM4479943 PHRF1 c.2373C>A p.S791S Substitution - coding silent Skin COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM5609447 MSH6 c.2494C>T p.L832L Substitution - coding silent Skin COSM1483628 ACTR5 c.756C>A p.I252I Substitution - coding silent Breast COSM447294 PRDM5 c.1752G>A p.L584L Substitution - coding silent Breast COSM1261520 RNF134 c.589T>C p.L197L Substitution - coding silent Stomach COSM126760 KDM3A c.3851C>A p.S1284* Substitution - Nonsense Upper_aerodigestive_tract COSM3671392 VPS72 c.521G>T p.R174L Substitution - Missense Prostate COSM4900039 HDAC9 c.274G>A p.E92K Substitution - Missense Skin COSM1635034 MLL5 c.2059A>C p.T687P Substitution - Missense Liver COSM5431594 JARID2 c.2789G>C p.R930P Substitution - Missense Oesophagus COSM1324588 SETBP1 c.4267A>T p.T1423S Substitution - Missense Ovary COSM488488 PHF8 c.267A>G p.R89R Substitution - coding silent Kidney COSM3841213 NCOA3 c.423C>T p.V141V Substitution - coding silent Breast COSM124453 KMT2D c.7978C>A p.P2660T Substitution - Missense Upper_aerodigestive_tract COSM1609324 CREBBP c.234C>T p.S78S Substitution - coding silent Liver COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM573880 SP100 c.1689C>A p.N563K Substitution - Missense Central_nervous_system COSM4972325 ASXL1 c.? p.T736fs*8 Frameshift Haematopoietic_and_lymphoid_tissue COSM96459 CREBBP c.2141G>A p.R714H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM252979 CLOCK c.368delT p.L123fs*1 Deletion - Frameshift Lung COSM6004417 ZMYND8 c.3228C>T p.S1076S Substitution - coding silent Prostate COSM3204101 PHC3 c.1163G>A p.S388N Substitution - Missense Large_intestine COSM5358365 KMT2C c.10863T>G p.A3621A Substitution - coding silent Large_intestine COSM36166 ASXL1 c.1772_1773insA p.Y591fs*1 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM4677372 DHX30 c.1330C>A p.L444I Substitution - Missense Large_intestine COSM4151630 HDAC5 c.2527T>C p.C843R Substitution - Missense Kidney COSM756637 SCML2 c.2063G>T p.C688F Substitution - Missense Lung COSM3434297 TDRD1 c.1943C>T p.S648F Substitution - Missense Skin COSM3089595 EHMT1 c.142G>A p.V48I Substitution - Missense Skin COSM4821191 KMT2C c.9733C>T p.Q3245* Substitution - Nonsense Cervix COSM41888 TET2 c.? p.R1214W Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4788228 SFMBT1 c.2306A>G p.D769G Substitution - Missense Liver COSM2753442 KDM4B c.21C>T p.G7G Substitution - coding silent Breast COSM5599096 ASH1L c.8072G>A p.R2691Q Substitution - Missense Skin COSM4007327 ZMYM6 c.2122A>G p.T708A Substitution - Missense Stomach COSM323541 SP140_ENST00000392045 c.1483C>T p.P495S Substitution - Missense Lung COSM2720035 CHD7 c.3080C>T p.T1027I Substitution - Missense Large_intestine COSM323613 SRCAP c.5234C>T p.T1745M Substitution - Missense Lung COSM1628617 ARID2 c.5328delA p.N1778fs*13 Deletion - Frameshift Large_intestine COSM5725737 TRRAP c.4519C>T p.P1507S Substitution - Missense Skin COSM110780 TET2 c.3862G>A p.G1288S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5672148 CHD3 c.5489A>C p.H1830P Substitution - Missense Soft_tissue COSM4624636 SP140_ENST00000392045 c.1029C>A p.A343A Substitution - coding silent Large_intestine COSM1018324 TET2 c.3811T>G p.C1271G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1266273 SMEK2 c.1699A>G p.T567A Substitution - Missense Oesophagus COSM5985382 SRCAP c.1166G>A p.R389H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM427630 ERCC6 c.4238A>G p.Q1413R Substitution - Missense Soft_tissue COSM4134435 ASXL1 c.3759T>C p.S1253S Substitution - coding silent Soft_tissue COSM253812 PRMT7 c.1965C>G p.A655A Substitution - coding silent Urinary_tract COSM4134435 ASXL1 c.3759T>C p.S1253S Substitution - coding silent Soft_tissue COSM5996461 KDM1B c.1091C>A p.S364Y Substitution - Missense Prostate COSM4687308 GLYATL1 c.743C>T p.P248L Substitution - Missense Large_intestine COSM1466698 HCFC1 c.1532G>A p.R511H Substitution - Missense Large_intestine COSM3739782 BAZ2A c.5620A>G p.M1874V Substitution - Missense Liver COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM961345 INOC1 c.3814G>A p.E1272K Substitution - Missense Endometrium COSM4572497 BAZ1A c.766T>A p.F256I Substitution - Missense Skin COSM5681158 ATRX c.2116A>T p.S706C Substitution - Missense Soft_tissue COSM4167242 TET2 c.? p.V498fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM2098088 RNF2 c.759C>T p.N253N Substitution - coding silent Stomach COSM5790895 BPTF c.3936T>G p.N1312K Substitution - Missense Breast COSM126965 TET2 c.1763C>A p.S588* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM4419035 NSD1 c.1749G>A p.E583E Substitution - coding silent Soft_tissue COSM3672231 SRCAP c.8479G>A p.A2827T Substitution - Missense Prostate COSM100082 KMT2C c.8390_8390delA p.K2797fs*26 Deletion - Frameshift Large_intestine COSM3906840 TAF1L c.3868G>A p.G1290R Substitution - Missense Stomach COSM5429677 PRDM14 c.1573T>C p.S525P Substitution - Missense Oesophagus COSM1155830 ASXL1 c.2074C>T p.Q692* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1559373 HNF1A c.1545G>A p.T515T Substitution - coding silent Soft_tissue COSM5662243 CHD6 c.7421C>T p.A2474V Substitution - Missense Soft_tissue COSM3637534 STK31 c.451C>T p.P151S Substitution - Missense Cervix COSM4040290 EP400 c.7886C>T p.T2629M Substitution - Missense Stomach COSM5485486 MTA2 c.1506C>T p.A502A Substitution - coding silent Large_intestine COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4747149 NCOA3 c.3741_3746delGCAGCA p.Q1275_Q1276delQQ Deletion - In frame Stomach COSM5380512 ARID1A c.2655C>A p.P885P Substitution - coding silent Skin COSM3967694 MTA2 c.1874T>G p.M625R Substitution - Missense Central_nervous_system COSM379953 GABRG1 c.1297C>A p.H433N Substitution - Missense Lung COSM1493435 TP53BP1 c.5043G>A p.K1681K Substitution - coding silent Kidney COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1233531 ZMYM3 c.1243A>G p.T415A Substitution - Missense Large_intestine COSM5625232 NCOA1 c.410C>G p.S137* Substitution - Nonsense Oesophagus COSM1734241 EHMT2 c.2797G>A p.V933M Substitution - Missense Pancreas COSM4168041 BRD8 c.673_679delGGCCACC p.G225fs*1 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM42016 TET2 c.4393C>T p.R1465* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3461631 KMT2D c.360C>T p.F120F Substitution - coding silent Skin COSM5960577 ATAT1 c.718C>T p.R240* Substitution - Nonsense Breast COSM4384042 NSD1 c.388C>T p.P130S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5979538 NCOA2 c.1861G>T p.V621L Substitution - Missense Upper_aerodigestive_tract COSM4919504 PRMT6 c.604G>T p.A202S Substitution - Missense Liver COSM4477453 ZMYND8 c.2154C>T p.S718S Substitution - coding silent Skin COSM3615962 NIPBL c.6831C>T p.S2277S Substitution - coding silent Skin COSM1242915 TCF20 c.2864G>A p.S955N Substitution - Missense Oesophagus COSM958755 SMEK1 c.983G>T p.R328I Substitution - Missense Endometrium COSM3203546 MECOM c.2468C>T p.S823L Substitution - Missense Skin COSM1745727 TRDMT1 c.676G>C p.D226H Substitution - Missense Urinary_tract COSM4637610 TRIM33 c.2959C>G p.P987A Substitution - Missense Large_intestine COSM4645726 PWWP2B c.548G>A p.S183N Substitution - Missense Large_intestine COSM4834020 KMT2A c.10688G>T p.S3563I Substitution - Missense Cervix COSM4483306 PHRF1 c.268C>T p.Q90* Substitution - Nonsense Skin COSM1162668 DMAP1 c.626C>G p.P209R Substitution - Missense Pancreas COSM3794180 TP53BP1 c.2742C>T p.I914I Substitution - coding silent Urinary_tract COSM1192753 CBX5 c.317delA p.K106fs*31 Deletion - Frameshift Large_intestine COSM3666554 HNF1A c.526_526+12delCGTAAGTAATGAC p.? Unknown Liver COSM1436896 PRDM9 c.2665G>A p.V889I Substitution - Missense Pancreas COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2156567 PRDM9 c.2348G>A p.R783Q Substitution - Missense Central_nervous_system COSM131531 ARID2 c.93-1G>A p.? Unknown Liver COSM40064 MECOM c.2782G>A p.D928N Substitution - Missense Skin COSM5352285 ARID1A c.? p.H688P Substitution - Missense Endometrium COSM992 SMARCB1 c.472C>T p.R158* Substitution - Nonsense Central_nervous_system COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Central_nervous_system COSM5687942 SETD2 c.787A>C p.M263L Substitution - Missense Soft_tissue COSM3536573 UHRF1 c.154G>A p.E52K Substitution - Missense Skin COSM4480695 PHRF1 c.2442C>T p.P814P Substitution - coding silent Skin COSM5487220 SETD2 c.4187_4188insC p.E1396fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM1677696 TDRD3 c.1948C>T p.R650W Substitution - Missense Large_intestine COSM1716586 BAP1 c.1117-?_1250+?del p.? Unknown Eye COSM3660915 PRMT10 c.1034C>T p.T345I Substitution - Missense Liver COSM5743540 CHD4 c.496G>A p.V166M Substitution - Missense Small_intestine COSM4993948 NCOR1 c.2014C>T p.R672* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM5888148 BAZ2A c.449C>T p.S150F Substitution - Missense Upper_aerodigestive_tract COSM1642228 ZCWPW2 c.785-9delT p.? Unknown Bone COSM1618154 BRPF1 c.1577A>G p.N526S Substitution - Missense Liver COSM108560 PRDM16 c.2786C>T p.P929L Substitution - Missense Skin COSM4754330 TDRD6 c.248G>A p.R83H Substitution - Missense Skin COSM1676616 KDM5A c.3365A>G p.D1122G Substitution - Missense Central_nervous_system COSM5936935 RERE c.1903-8C>T p.? Unknown Skin COSM3555265 PHF21B c.889C>T p.Q297* Substitution - Nonsense Skin COSM2965387 KDM6A c.2364C>T p.A788A Substitution - coding silent Upper_aerodigestive_tract COSM3811508 EP400 c.5629G>A p.E1877K Substitution - Missense Breast COSM4134977 DNMT3L c.982C>A p.P328T Substitution - Missense Thyroid COSM4586805 TDRD6 c.4257C>T p.S1419S Substitution - coding silent Breast COSM5898683 PHF16 c.1178C>T p.T393I Substitution - Missense Skin COSM3845469 BRWD3 c.1151G>C p.R384P Substitution - Missense Breast COSM1643598 WHSC1L1 c.1255delA p.T419fs*8 Deletion - Frameshift Stomach COSM3770844 ADNP c.382T>C p.F128L Substitution - Missense Pancreas COSM4725921 SHPRH c.403G>A p.E135K Substitution - Missense Large_intestine COSM124054 L3MBTL2 c.169G>A p.E57K Substitution - Missense Lung COSM43505 TET2 c.? p.R1516* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM96347 ASXL1 c.? p.G646fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM1101404 NCOA2 c.4035A>G p.P1345P Substitution - coding silent Endometrium COSM4005678 PHF17 c.596A>C p.E199A Substitution - Missense Urinary_tract COSM5806202 DNMT3B c.717G>T p.W239C Substitution - Missense Liver COSM1639214 CHD4 c.5217C>T p.A1739A Substitution - coding silent Stomach COSM4767629 KMT2C c.2729C>G p.S910* Substitution - Nonsense Biliary_tract COSM3548782 DIDO1 c.4847C>T p.S1616F Substitution - Missense Skin COSM4059636 GTF3C1 c.6074A>G p.Y2025C Substitution - Missense Stomach COSM3301698 CLOCK c.474C>T p.I158I Substitution - coding silent Large_intestine COSM5448663 KDM4A c.2202A>G p.I734M Substitution - Missense Large_intestine COSM21487 HNF1A c.526+1G>A p.? Unknown Liver COSM3463558 BAZ2A_ENST00000379441 c.271T>G p.C91G Substitution - Missense Skin COSM88749 CREBBP c.4336C>T p.R1446C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM419396 CHD6 c.4008-1G>A p.? Unknown Urinary_tract COSM5015052 KMT2A c.2221T>C p.F741L Substitution - Missense Kidney COSM4106091 MSL3 c.192T>C p.D64D Substitution - coding silent Stomach COSM3441513 BTAF1 c.4903G>A p.E1635K Substitution - Missense Skin COSM1086001 TRIM24 c.2314A>G p.T772A Substitution - Missense Endometrium COSM1476760 BAZ2A c.3176G>A p.R1059Q Substitution - Missense Large_intestine COSM1625590 FMR1 c.616A>G p.S206G Substitution - Missense Liver COSM469790 CHD8 c.1733G>A p.R578H Substitution - Missense Upper_aerodigestive_tract COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3881877 ACTB c.137G>T p.G46V Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4104941 BRD1 c.1335G>A p.P445P Substitution - coding silent Skin COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM267971 ASXL1 c.2893C>T p.R965* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM479689 MECOM c.3095G>A p.W1032* Substitution - Nonsense Kidney COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM265800 ERCC6 c.2354T>A p.V785D Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM139662 PRDM1 c.830C>T p.S277F Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3374413 ZCWPW1 c.464C>T p.T155I Substitution - Missense Thyroid COSM5959990 TRIM28 c.112G>T p.A38S Substitution - Missense Thyroid COSM5833307 HDAC5 c.1114delA p.I372fs*3 Deletion - Frameshift Breast COSM277582 TAF1 c.2494A>C p.K832Q Substitution - Missense Large_intestine COSM254574 BTAF1 c.2255C>G p.P752R Substitution - Missense Urinary_tract COSM5022462 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM908356 PRDM16 c.1882G>A p.D628N Substitution - Missense Skin COSM3356828 CREBBP c.4463C>T p.P1488L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM85094 KMT2C c.6601G>C p.D2201H Substitution - Missense Pancreas COSM1167591 NCOA3 c.212delT p.L72fs*1 Deletion - Frameshift Skin COSM216735 SHPRH c.2394G>A p.Q798Q Substitution - coding silent Pancreas COSM24619 SMARCB1 c.1_1158del1158 p.0? Whole gene deletion Central_nervous_system COSM3984651 RBBP5 c.1567G>A p.E523K Substitution - Missense Kidney COSM693910 ARID2 c.1119A>C p.R373S Substitution - Missense Lung COSM913366 MTF2 c.976G>T p.D326Y Substitution - Missense Endometrium COSM271712 MBD6 c.2073_2074insC p.Q694fs*23 Insertion - Frameshift Large_intestine COSM743058 PHIP c.5046C>G p.I1682M Substitution - Missense Lung COSM3932973 DOT1L c.1344A>C p.S448S Substitution - coding silent Urinary_tract COSM4542801 ACTA1 c.325G>A p.E109K Substitution - Missense Skin COSM3624824 EHMT2 c.3291C>T p.Y1097Y Substitution - coding silent Skin COSM1391824 GATAD2A c.659_660insC p.P223fs*74 Insertion - Frameshift Large_intestine COSM5637256 SP100 c.1764A>G p.R588R Substitution - coding silent Oesophagus COSM5463610 KMT2C c.3842-5G>A p.? Unknown Large_intestine COSM3738492 TET2 c.? p.T1251fs*15 Frameshift Haematopoietic_and_lymphoid_tissue COSM53132 TET2 c.? p.G1288V Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3915314 MECOM c.1708C>T p.P570S Substitution - Missense Skin COSM251399 ARID1A c.2632C>T p.Q878* Substitution - Nonsense Liver COSM4672094 CHD8 c.4739G>A p.R1580Q Substitution - Missense Large_intestine COSM1034548 EP300 c.3810C>T p.F1270F Substitution - coding silent Endometrium COSM255312 SMARCA4 c.3727C>T p.R1243W Substitution - Missense Kidney COSM22643 MEN1 c.1074_1075GG>AA p.E359K Substitution - Missense Soft_tissue COSM33733 IDH2 c.515G>A p.R172K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM37031 EZH2 c.1936T>A p.Y646N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM27603 PHF14 c.546delA p.K182fs*19 Deletion - Frameshift Kidney COSM34210 ASXL1 c.1934_1935insG p.G646fs*12 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM23056 MEN1 c.1033delG p.A345fs*23 Deletion - Frameshift Pancreas COSM28795 KDM6A c.975-1G>T p.? Unknown Kidney COSM85912 IKZF1 c.1-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM80920 BRD4 c.585G>C p.T195T Substitution - coding silent Ovary COSM77340 BMI1 c.86C>A p.T29K Substitution - Missense Ovary COSM75426 KMT2C c.10040A>G p.N3347S Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM88756 CREBBP c.286C>T p.Q96* Substitution - Nonsense Stomach COSM97935 CHD5 c.898G>C p.D300H Substitution - Missense Upper_aerodigestive_tract COSM122798 EHMT2 c.980C>T p.S327L Substitution - Missense Upper_aerodigestive_tract COSM146875 SFMBT2 c.959C>T p.A320V Substitution - Missense Large_intestine COSM195246 TAF1 c.1024C>T p.R342C Substitution - Missense Large_intestine COSM219042 TET2 c.1285G>A p.G429R Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM216214 TAF1 c.3203G>A p.R1068H Substitution - Missense Endometrium COSM223219 KMT2C c.11020G>A p.G3674S Substitution - Missense Skin COSM238911 ATRX c.587T>G p.I196S Substitution - Missense Prostate COSM271739 BPTF c.8140G>A p.E2714K Substitution - Missense Large_intestine COSM303583 YEATS4 c.279G>T p.W93C Substitution - Missense Central_nervous_system COSM357685 ATRX c.7033G>C p.V2345L Substitution - Missense Lung COSM476082 BAZ2B c.1848A>C p.E616D Substitution - Missense Kidney COSM975876 NCOR1 c.3803C>T p.P1268L Substitution - Missense Endometrium COSM985852 BAHCC1 c.3909G>A p.G1303G Substitution - coding silent Endometrium COSM1026061 NCOA6 c.5252C>A p.S1751Y Substitution - Missense Endometrium COSM937513 ATF7IP c.3292C>T p.R1098* Substitution - Nonsense Endometrium COSM1021299 MSH6 c.3300G>A p.T1100T Substitution - coding silent Endometrium COSM756633 SCML2 c.779C>A p.A260E Substitution - Missense Lung COSM704682 CDYL2 c.797C>G p.S266C Substitution - Missense Lung COSM958929 UBR7 c.151-2A>G p.? Unknown Endometrium COSM989391 L3MBTL4 c.1624C>T p.R542C Substitution - Missense Endometrium COSM1039205 ZBTB38 c.2843C>T p.P948L Substitution - Missense Endometrium COSM961495 MGA c.1272G>A p.E424E Substitution - coding silent Endometrium COSM1074215 SHPRH c.1232T>G p.F411C Substitution - Missense Endometrium COSM1100861 CHD7 c.6711C>T p.S2237S Substitution - coding silent Endometrium COSM1101416 NCOA2 c.2361G>T p.E787D Substitution - Missense Endometrium COSM1246259 BRWD1 c.4991G>A p.R1664H Substitution - Missense Stomach COSM1167866 SIRT3 c.636_637insT p.L213fs*6 Insertion - Frameshift Skin COSM1183849 ASXL3 c.1918C>T p.R640W Substitution - Missense Large_intestine COSM1204290 DNMT1 c.2873G>A p.R958H Substitution - Missense Large_intestine COSM1220481 PHRF1 c.4943G>A p.G1648D Substitution - Missense Large_intestine COSM1216864 NCOA5 c.181C>T p.R61W Substitution - Missense Large_intestine COSM1224354 RTF1 c.1744C>T p.R582* Substitution - Nonsense Large_intestine COSM1190630 SMARCA1 c.2312A>G p.E771G Substitution - Missense Lung COSM1315858 TET2 c.767C>G p.A256G Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1313190 ACTB c.472G>A p.G158R Substitution - Missense Urinary_tract COSM1327699 FXR1 c.1145C>T p.S382F Substitution - Missense Ovary COSM1396559 SUV420H2 c.106G>A p.V36I Substitution - Missense Large_intestine COSM1372776 RTF1 c.1667C>T p.A556V Substitution - Missense Large_intestine COSM1450168 CBX3 c.26delA p.M11fs*26 Deletion - Frameshift Large_intestine COSM1369104 PRMT5 c.1600C>T p.R534C Substitution - Missense Large_intestine COSM1355101 PHRF1 c.4169delC p.L1392fs*8 Deletion - Frameshift Large_intestine COSM1607640 BAZ1A c.2361A>G p.K787K Substitution - coding silent Liver COSM1638639 SFMBT2 c.367G>A p.V123I Substitution - Missense Stomach COSM1679022 SRCAP c.8306A>G p.Q2769R Substitution - Missense Large_intestine COSM1707262 BAZ1A c.3412C>T p.R1138C Substitution - Missense Skin COSM1719479 MECOM c.2550C>T p.F850F Substitution - coding silent Skin COSM1703833 PRDM11 c.364C>T p.P122S Substitution - Missense Skin COSM1706183 HCFC2 c.1598C>T p.S533L Substitution - Missense Skin COSM1663152 NSD1 c.5369A>G p.D1790G Substitution - Missense Kidney COSM1723898 CHD2 c.3296C>T p.S1099F Substitution - Missense Skin COSM1752704 KDM3A c.469C>T p.R157* Substitution - Nonsense Urinary_tract COSM2150737 SETD2 c.6115G>A p.E2039K Substitution - Missense Central_nervous_system COSM2797924 BPTF c.8615A>C p.K2872T Substitution - Missense Large_intestine COSM2808487 AP001011.3_ENST00000320876 c.677G>A p.R226H Substitution - Missense Large_intestine COSM2819129 PRDM15 c.1837delG p.E613fs*35 Deletion - Frameshift Large_intestine COSM2828731 SETD5_ENST00000402198 c.267A>T p.V89V Substitution - coding silent Upper_aerodigestive_tract COSM2837352 PCGF2 c.331A>G p.N111D Substitution - Missense Large_intestine COSM2965452 KDM6A c.3600T>A p.L1200L Substitution - coding silent Upper_aerodigestive_tract COSM2960345 WHSC1L1 c.74C>T p.S25F Substitution - Missense Skin COSM2967897 KDM5C c.3668C>T p.P1223L Substitution - Missense Large_intestine COSM3160225 PHF3 c.106G>A p.A36T Substitution - Missense Upper_aerodigestive_tract COSM3353939 CDYL c.1434C>T p.F478F Substitution - coding silent Upper_aerodigestive_tract COSM3363573 SMARCB1 c.786C>A p.V262V Substitution - coding silent Kidney COSM3358455 SETD2 c.4472_4481del10 p.R1491fs*9 Deletion - Frameshift Kidney COSM3372445 BAZ2B c.1590T>C p.P530P Substitution - coding silent Thyroid COSM3377853 GTF3C1 c.2519G>A p.G840D Substitution - Missense Pancreas COSM3406465 KDM5C c.3493C>T p.R1165C Substitution - Missense Central_nervous_system COSM3400364 LBR c.1274G>A p.S425N Substitution - Missense Central_nervous_system COSM3398452 KDM2B c.839G>A p.R280H Substitution - Missense Stomach COSM3508899 SRCAP c.2669T>C p.V890A Substitution - Missense Skin COSM3430026 EYA4 c.1140C>A p.I380I Substitution - coding silent Large_intestine COSM3472815 PRDM2 c.47C>T p.A16V Substitution - Missense Skin COSM3632988 SND1 c.1270C>T p.P424S Substitution - Missense Skin COSM3589911 MECOM c.219G>A p.T73T Substitution - coding silent Bone COSM3557310 ZBTB33 c.1700C>T p.S567L Substitution - Missense Skin COSM3525442 ASXL3 c.1854G>A p.V618V Substitution - coding silent Skin COSM3660652 PHF7 c.838G>A p.G280R Substitution - Missense Pancreas COSM3704481 ARID1A c.2272C>T p.Q758* Substitution - Nonsense Liver COSM3707813 NCOA3 c.385A>G p.N129D Substitution - Missense Liver COSM3736917 NIPBL c.2021A>G p.N674S Substitution - Missense Soft_tissue COSM3818086 CHD9 c.3816A>G p.T1272T Substitution - coding silent Breast COSM3870950 KDM2B c.321C>T p.F107F Substitution - coding silent Skin COSM3859990 ARID1B c.4838T>A p.I1613N Substitution - Missense Stomach COSM3824035 DHX30 c.100A>C p.T34P Substitution - Missense Breast COSM3848133 EHMT1 c.3611G>C p.G1204A Substitution - Missense Breast COSM3924588 ATAD2 c.1027C>T p.P343S Substitution - Missense Skin COSM3906162 EHMT1 c.312G>A p.Q104Q Substitution - coding silent Stomach COSM3879519 KMT2C c.11787A>C p.K3929N Substitution - Missense Stomach COSM3973883 ATRX c.6506G>A p.G2169E Substitution - Missense Central_nervous_system COSM3972137 HDAC4 c.3145G>A p.E1049K Substitution - Missense Central_nervous_system COSM4032629 RAG2 c.986T>G p.L329R Substitution - Missense Stomach COSM4023395 HDGF c.198C>T p.Y66Y Substitution - coding silent Large_intestine COSM4042377 KMT2D c.6393C>T p.R2131R Substitution - coding silent Stomach COSM4076200 DOT1L c.271G>T p.G91C Substitution - Missense Stomach COSM4162018 KMT2C c.2315C>T p.S772L Substitution - Missense Upper_aerodigestive_tract COSM4161255 TDRD6 c.599T>G p.V200G Substitution - Missense Thyroid COSM4597310 SMYD1 c.344A>G p.E115G Substitution - Missense Upper_aerodigestive_tract COSM4596556 CHD8 c.3722C>A p.A1241E Substitution - Missense Upper_aerodigestive_tract COSM4503306 TRRAP c.6318C>T p.R2106R Substitution - coding silent Skin COSM4497184 RAI1 c.4916C>T p.S1639L Substitution - Missense Skin COSM4513014 KDM4D c.923C>T p.S308F Substitution - Missense Skin COSM4590489 ATAT1 c.794A>C p.H265P Substitution - Missense Upper_aerodigestive_tract COSM4440328 CHD4 c.3727G>T p.D1243Y Substitution - Missense Thyroid COSM4694853 KDM1A c.2202A>C p.E734D Substitution - Missense Large_intestine COSM4641161 PRDM15 c.1666G>A p.V556M Substitution - Missense Large_intestine COSM4641255 PHF3 c.727C>A p.P243T Substitution - Missense Large_intestine COSM4772124 CHD1 c.4016A>G p.N1339S Substitution - Missense Stomach COSM4789201 TRIM66 c.819C>A p.S273S Substitution - coding silent Liver COSM4795767 PHF16 c.1579G>A p.A527T Substitution - Missense Liver COSM4802358 NIPBL c.1236C>T p.R412R Substitution - coding silent Liver COSM4787914 ZMYM2 c.1486C>A p.Q496K Substitution - Missense Liver COSM4932535 TDRD1 c.217A>T p.T73S Substitution - Missense Liver COSM4959810 KIAA2026_ENST00000399933 c.3004G>A p.G1002R Substitution - Missense Liver COSM4951689 BRD4 c.1708C>A p.P570T Substitution - Missense Liver COSM4990210 HNF1A c.1228G>A p.G410R Substitution - Missense Skin COSM4991945 PBRM1 c.374C>T p.S125F Substitution - Missense Skin COSM4987204 NSD1 c.1840G>T p.V614L Substitution - Missense Soft_tissue COSM5019408 DNMT1 c.1584C>A p.I528I Substitution - coding silent Soft_tissue COSM5044352 KMT2D c.5818_5819delCC p.P1940fs*32 Deletion - Frameshift Adrenal_gland COSM5054929 CHD9 c.6724C>T p.P2242S Substitution - Missense Stomach COSM5369125 SMARCD2 c.707G>A p.G236E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5450284 PHIP c.4706G>C p.G1569A Substitution - Missense Large_intestine COSM5625324 DAXX c.11C>G p.A4G Substitution - Missense Oesophagus COSM5640818 SMARCA2 c.3742G>C p.E1248Q Substitution - Missense Oesophagus COSM5631450 SMEK1 c.308A>G p.K103R Substitution - Missense Oesophagus COSM5751785 TDRD6 c.134G>AG p.R45fs*115 Complex - frameshift Haematopoietic_and_lymphoid_tissue COSM5656242 KMT2D c.174C>T p.C58C Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM5735379 ZMYM4 c.216_217insT p.L74fs*14 Insertion - Frameshift Small_intestine COSM5594041 ZMYM1 c.2984C>T p.S995L Substitution - Missense Skin COSM5693441 SRCAP c.8023G>T p.E2675* Substitution - Nonsense Soft_tissue COSM5708601 TBL1XR1 c.502C>A p.H168N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5556995 RAI1 c.591T>C p.I197I Substitution - coding silent Prostate COSM5799692 MBD6 c.2846C>G p.S949C Substitution - Missense Breast COSM5818955 INOC1 c.305T>C p.L102P Substitution - Missense Liver COSM5809483 TAF1L c.4425T>C p.S1475S Substitution - coding silent Liver COSM5944377 ASXL1 c.1888_1892delCACCA p.H630fs*3 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5951903 SETD6 c.884G>A p.R295H Substitution - Missense Oesophagus COSM5942649 CREBBP c.3329C>T p.P1110L Substitution - Missense Skin COSM5959260 SRCAP c.6476G>A p.R2159Q Substitution - Missense Thyroid COSM5961650 CDYL2 c.897C>T p.L299L Substitution - coding silent Adrenal_gland COSM5990074 TET2 c.852delG p.P285fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5967605 PRDM16 c.1093_1094insC p.H366fs*32 Insertion - Frameshift Soft_tissue COSM5999138 KAT6B c.4422A>G p.L1474L Substitution - coding silent Prostate COSM5994467 HDAC4 c.2713G>A p.A905T Substitution - Missense Prostate COSM5994467 HDAC4 c.2713G>A p.A905T Substitution - Missense Prostate COSM6008966 KMT2A c.8874G>C p.K2958N Substitution - Missense Large_intestine COSM303912 DNMT3A c.? p.R882? Unknown Haematopoietic_and_lymphoid_tissue COSM85769 EZH2 c.? p.Y646? Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4169298 ARID1A c.? p.Q1452fs*29 Unknown Biliary_tract COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM41291 IDH1 c.? p.R132H Substitution - Missense Central_nervous_system COSM96399 ASXL1 c.? p.? Frameshift Haematopoietic_and_lymphoid_tissue COSM1169633 PBRM1 c.? p.? Unknown Kidney COSM30360 SETD2 c.5341C>T p.Q1781* Substitution - Nonsense Kidney COSM51384 IDH1 c.? p.R132L Substitution - Missense Central_nervous_system COSM1738035 ASXL1 c.? p.G642fs*? Frameshift Haematopoietic_and_lymphoid_tissue COSM21481 HNF1A c.872_873insC p.G292fs*25 Insertion - Frameshift Liver COSM1211724 KDM3A c.2703G>T p.K901N Substitution - Missense Large_intestine COSM122851 EP300 c.4195G>A p.D1399N Substitution - Missense Upper_aerodigestive_tract COSM5814687 ARID2 c.783A>T p.S261S Substitution - coding silent Liver COSM4766121 TET2 c.3409G>A p.E1137K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM423269 PBRM1 c.998_999insA p.N333fs*2 Insertion - Frameshift Kidney COSM1292689 WHSC1L1 c.550G>A p.E184K Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM2874576 NCOA2 c.3536C>T p.T1179M Substitution - Missense Stomach COSM3667363 ASH1L c.4091C>T p.P1364L Substitution - Missense Liver COSM1723868 BRPF1 c.2760C>T p.N920N Substitution - coding silent Skin COSM4805895 MEN1 c.1023G>A p.W341* Substitution - Nonsense Liver COSM6012161 NSD1 c.802G>C p.E268Q Substitution - Missense Skin COSM5753775 DPF2 c.14T>G p.V5G Substitution - Missense Large_intestine COSM1230629 TRRAP c.5C>T p.A2V Substitution - Missense Large_intestine COSM5948266 KMT2D c.1632_1633insC p.L545fs*6 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5414706 NCOA3 c.1473G>T p.K491N Substitution - Missense Breast COSM5907770 PRDM15 c.2207G>A p.R736Q Substitution - Missense Skin COSM3451008 MTA2 c.1683C>T p.A561A Substitution - coding silent Skin COSM5927196 TDRKH c.688G>A p.G230R Substitution - Missense Skin COSM3850184 PHF15 c.1839C>T p.D613D Substitution - coding silent Stomach COSM132992 ARID1A c.6259G>A p.G2087R Substitution - Missense Stomach COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4387421 BAP1 c.82C>T p.Q28* Substitution - Nonsense Pleura COSM1321679 PHF21A c.849C>G p.H283Q Substitution - Missense Ovary COSM5959231 ARID1A c.3490A>C p.T1164P Substitution - Missense Thyroid COSM2023475 PWWP2B c.1025A>G p.D342G Substitution - Missense Large_intestine COSM4404722 BRD9 c.1041C>T p.L347L Substitution - coding silent Skin COSM999448 KDM4B c.104T>A p.I35K Substitution - Missense Endometrium COSM28747 IDH1 c.394C>T p.R132C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3670287 ZMYM3 c.1648C>T p.R550C Substitution - Missense Central_nervous_system COSM248766 CHD3 c.3002C>G p.T1001S Substitution - Missense Pancreas COSM5645294 BRWD3 c.4713C>A p.I1571I Substitution - coding silent Oesophagus COSM3528445 SMARCA4 c.4410C>T p.I1470I Substitution - coding silent Skin COSM1331709 TAF1 c.2583G>A p.W861* Substitution - Nonsense Ovary COSM254571 BRPF1 c.3049G>A p.A1017T Substitution - Missense Urinary_tract COSM1287834 SETD8 c.1044G>A p.P348P Substitution - coding silent Central_nervous_system COSM382691 SMARCA4 c.2207A>G p.H736R Substitution - Missense Lung COSM3108878 GTF3C1 c.3563G>T p.C1188F Substitution - Missense Central_nervous_system COSM5881719 EYA3 c.475G>C p.A159P Substitution - Missense Breast COSM41294 IDH1 c.? p.R132C Substitution - Missense Central_nervous_system COSM1181037 TIF1 c.2429_2430insC p.K812fs*30 Insertion - Frameshift Large_intestine COSM1642609 KDM3B c.3119A>G p.N1040S Substitution - Missense Stomach COSM1257408 MBD6 c.1029C>T p.G343G Substitution - coding silent Oesophagus COSM3382541 KIAA2026_ENST00000399933 c.1225G>T p.E409* Substitution - Nonsense Pancreas COSM3994528 CHD1 c.4918C>T p.H1640Y Substitution - Missense Kidney COSM41292 IDH1 c.? p.R132G Substitution - Missense Central_nervous_system COSM1251616 EYA2 c.719G>A p.R240K Substitution - Missense Stomach COSM5708974 TET2 c.5347C>T p.Q1783* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1183546 ARID1A c.3668G>A p.R1223H Substitution - Missense Stomach COSM5008118 EP400 c.4022G>A p.R1341Q Substitution - Missense Large_intestine COSM5493434 CHD9 c.6955delC p.P2320fs*18 Deletion - Frameshift Biliary_tract COSM5617231 GABRG1 c.177T>C p.I59I Substitution - coding silent Lung COSM4648623 KDM3A c.1416A>G p.V472V Substitution - coding silent Large_intestine COSM3370411 MYST1 c.1126T>C p.F376L Substitution - Missense Thyroid COSM2259835 BRDT c.753G>A p.K251K Substitution - coding silent Large_intestine COSM3384197 ATF7IP c.3142A>T p.T1048S Substitution - Missense Pancreas COSM706273 EZH1 c.62C>A p.S21Y Substitution - Missense Lung COSM3430979 ZCWPW1 c.1046C>T p.S349F Substitution - Missense Large_intestine COSM1630066 NCOR1 c.515C>T p.S172L Substitution - Missense Thyroid COSM4160412 HDGFL1 c.516G>A p.E172E Substitution - coding silent Thyroid COSM3377552 RTF1 c.1726G>A p.E576K Substitution - Missense Pancreas COSM216777 KMT2C c.5065G>T p.E1689* Substitution - Nonsense Pancreas COSM5642470 SUV420H1 c.2121A>T p.L707F Substitution - Missense Oesophagus COSM4449138 AP001011.3_ENST00000320876 c.1733delT p.F579fs*4 Deletion - Frameshift Skin COSM4649486 TRIM66 c.67C>T p.R23C Substitution - Missense Large_intestine COSM1084039 PHF14 c.514G>A p.A172T Substitution - Missense Large_intestine COSM4647699 RBBP4 c.86C>T p.P29L Substitution - Missense Large_intestine COSM85915 IKZF1 c.161-?_850+?del p.? Unknown Haematopoietic_and_lymphoid_tissue COSM1583428 SETDB1 c.2901C>A p.G967G Substitution - coding silent Endometrium COSM4927103 SMYD1 c.1446C>T p.S482S Substitution - coding silent Liver COSM5436397 SIRT7 c.1025C>A p.S342* Substitution - Nonsense Oesophagus COSM72167 PHF8 c.2358G>C p.W786C Substitution - Missense Ovary COSM384815 PRDM9 c.1457G>T p.S486I Substitution - Missense Lung COSM1117709 HCFC1 c.4861G>C p.A1621P Substitution - Missense Endometrium COSM4663698 ASH1L c.6721G>A p.A2241T Substitution - Missense Large_intestine COSM288125 DNMT1 c.4591G>C p.E1531Q Substitution - Missense Large_intestine COSM3069065 SETD2 c.2183G>A p.G728E Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4805071 TCF20 c.4348C>A p.H1450N Substitution - Missense Liver COSM2740190 RAI1 c.1531G>A p.E511K Substitution - Missense Upper_aerodigestive_tract COSM133576 ASXL1 c.2332C>T p.Q778* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM28750 IDH1 c.395G>T p.R132L Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3393549 NIPBL c.5808+4A>G p.? Unknown Pancreas COSM4389815 SUV39H1 c.6G>A p.A2A Substitution - coding silent Pancreas COSM5585044 DOT1L c.3029C>T p.P1010L Substitution - Missense Skin COSM5020484 PRDM1 c.1240C>T p.L414F Substitution - Missense Soft_tissue COSM3865206 ARID1A c.4686C>T p.P1562P Substitution - coding silent Skin COSM3848633 KIAA2026_ENST00000399933 c.3854G>A p.R1285Q Substitution - Missense Breast COSM2139538 ALKBH1 c.260A>G p.K87R Substitution - Missense Lung COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5445537 BRD4 c.840G>A p.Q280Q Substitution - coding silent Oesophagus COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1716672 ATRX c.3127_3131delGAAAA p.K1045fs*1 Deletion - Frameshift Central_nervous_system COSM4825058 ZMYM2 c.175G>A p.D59N Substitution - Missense Cervix COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM52944 DNMT3A c.2645G>A p.R882H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4843823 AP001011.3_ENST00000320876 c.184C>T p.Q62* Substitution - Nonsense Cervix COSM3309709 SMARCB1 c.510C>T p.D170D Substitution - coding silent Soft_tissue COSM3830924 PHF3 c.2444G>A p.R815K Substitution - Missense Breast COSM946187 RNF17 c.537G>A p.T179T Substitution - coding silent Endometrium COSM3858488 SIRT5 c.62C>A p.P21H Substitution - Missense Stomach COSM356350 ZBTB33 c.1408G>T p.E470* Substitution - Nonsense Lung COSM914342 ASXL1 c.? p.Y591* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM3731918 PYGO1 c.50-5_50-3delTTT p.? Unknown Stomach COSM3463381 SMARCC2 c.2268T>G p.N756K Substitution - Missense Skin COSM1644438 BTAF1 c.3896T>C p.L1299S Substitution - Missense Salivary_gland COSM1580024 ZGPAT c.685C>G p.Q229E Substitution - Missense Central_nervous_system COSM2192910 ORC1 c.365G>A p.S122N Substitution - Missense Large_intestine COSM5684107 SUV420H2 c.1060G>T p.V354F Substitution - Missense Soft_tissue COSM980866 MYST2 c.1585C>T p.R529C Substitution - Missense Endometrium COSM4790145 HCFC1 c.2520G>A p.T840T Substitution - coding silent Liver COSM5967256 NCOR1 c.6737C>G p.S2246* Substitution - Nonsense Salivary_gland COSM139005 GTF3C1 c.2166-1G>A p.? Unknown Skin COSM1122967 KDM5C c.1104C>T p.C368C Substitution - coding silent Endometrium COSM292328 PHF8 c.1279G>A p.V427I Substitution - Missense Endometrium COSM1644773 MGA c.3046C>T p.R1016* Substitution - Nonsense Salivary_gland COSM226129 PRDM9 c.2358A>C p.R786S Substitution - Missense Large_intestine COSM3953669 KAT5 c.1424+8T>G p.? Unknown Lung COSM2874511 PRDM14 c.1505G>A p.S502N Substitution - Missense Large_intestine COSM3762398 TIF1 c.2487A>G p.G829G Substitution - coding silent Soft_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM268338 SETD1A c.2290G>C p.V764L Substitution - Missense Large_intestine COSM4762641 KMT2C c.3999A>T p.E1333D Substitution - Missense Stomach COSM4134435 ASXL1 c.3759T>C p.S1253S Substitution - coding silent Soft_tissue COSM53042 DNMT3A c.2644C>T p.R882C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4713896 PHC2 c.1912delC p.L638fs*93 Deletion - Frameshift Large_intestine COSM1067062 PRDM9 c.366G>T p.A122A Substitution - coding silent Endometrium COSM1645192 ARID2 c.2543_2544insT p.A849fs*102 Insertion - Frameshift Liver COSM4917008 PHF14 c.1040A>G p.H347R Substitution - Missense Liver COSM1079898 TDRD6 c.3171A>G p.K1057K Substitution - coding silent Endometrium COSM5819502 AKAP1 c.2184C>T p.H728H Substitution - coding silent Liver COSM3973948 ATRX c.604A>T p.K202* Substitution - Nonsense Central_nervous_system COSM3505523 CHD2 c.1453C>T p.R485* Substitution - Nonsense Skin COSM1445555 PHF3 c.4083T>C p.T1361T Substitution - coding silent Large_intestine COSM4411953 KDM6A c.3209+1G>A p.? Unknown Urinary_tract COSM1666673 SETBP1 c.? p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5732946 EYA2 c.702_703delAG p.E235fs*19 Deletion - Frameshift Pancreas COSM215535 KMT2D c.14333G>A p.R4778H Substitution - Missense Bone COSM5677020 ZMYM4 c.2929delC p.Q978fs*76 Deletion - Frameshift Soft_tissue COSM4613683 RING1 c.510_511insG p.E173fs*21 Insertion - Frameshift Large_intestine COSM1318400 SETBP1 c.2602G>A p.D868N Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5928860 SHPRH c.1724A>T p.K575I Substitution - Missense Skin COSM4036887 RSF1 c.1955G>A p.S652N Substitution - Missense Stomach COSM1184884 BRD1 c.1560G>T p.E520D Substitution - Missense Large_intestine COSM1112285 MORF4L2 c.842C>A p.A281D Substitution - Missense Endometrium COSM1168019 TET2 c.4544_4545insT p.L1515fs*63 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM5580289 ASXL3 c.406C>T p.P136S Substitution - Missense Skin COSM1302625 SUZ12 c.1129C>T p.L377F Substitution - Missense Urinary_tract COSM1073178 L3MBTL3 c.816C>T p.G272G Substitution - coding silent Endometrium COSM1123022 SMC1A c.3598C>A p.L1200I Substitution - Missense Endometrium COSM49103 IDH2 c.? p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1124811 ZMYM3 c.1986G>A p.L662L Substitution - coding silent Endometrium COSM3583815 KDM3A c.1334C>T p.S445F Substitution - Missense Skin COSM4438985 PHIP c.1013C>T p.T338M Substitution - Missense Oesophagus COSM1955342 EPC1 c.280T>G p.F94V Substitution - Missense Large_intestine COSM3813519 ZMYM2 c.1379A>G p.N460S Substitution - Missense Breast COSM1666806 BAP1 c.518A>G p.Y173C Substitution - Missense Eye COSM4461538 KMT2C c.12108C>T p.I4036I Substitution - coding silent Skin COSM5050942 PHRF1 c.3798C>T p.A1266A Substitution - coding silent Stomach COSM4797119 ARID1B c.6045G>A p.G2015G Substitution - coding silent Liver COSM1387266 KDM6B c.2154C>T p.G718G Substitution - coding silent Large_intestine COSM4581744 NCOA6 c.5109T>A p.P1703P Substitution - coding silent Bone COSM4018290 KMT2A c.1980C>T p.D660D Substitution - coding silent Stomach COSM5419333 EHMT1 c.1761C>T p.A587A Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM302644 KMT2D c.15550C>T p.R5184* Substitution - Nonsense Central_nervous_system COSM4437341 ZCWPW2 c.908A>G p.K303R Substitution - Missense Oesophagus COSM4562406 SRCAP c.9255G>A p.M3085I Substitution - Missense Skin COSM382454 STK31 c.762G>T p.R254S Substitution - Missense Lung COSM3760322 TET2 c.5284A>G p.I1762V Substitution - Missense Large_intestine COSM1639905 RAD54L c.2033+7A>G p.? Unknown Stomach COSM3414291 PHF16 c.2370G>T p.R790S Substitution - Missense Oesophagus COSM236064 BRD7 c.1424C>T p.T475I Substitution - Missense Autonomic_ganglia COSM928929 GLYATL1 c.477G>A p.S159S Substitution - coding silent Endometrium COSM3048236 SP110 c.1555C>T p.R519C Substitution - Missense Large_intestine COSM5961890 SMC1A c.1702G>A p.E568K Substitution - Missense Breast COSM479001 EP300 c.7079A>G p.E2360G Substitution - Missense Kidney COSM1606137 ARID2 c.2542_2543insT p.A849fs*102 Insertion - Frameshift Liver COSM5461549 PHC1 c.1271C>T p.A424V Substitution - Missense Large_intestine COSM5417100 ATRX c.24A>C p.E8D Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM4478496 PHRF1 c.2242C>T p.R748W Substitution - Missense Skin COSM1107188 EHMT1 c.3417A>C p.E1139D Substitution - Missense Endometrium COSM28749 IDH1 c.394C>G p.R132G Substitution - Missense Bone COSM3666463 PHRF1 c.4358C>T p.P1453L Substitution - Missense Liver COSM22155 NIPBL c.6721_6724delCTAC p.L2241fs*23 Deletion - Frameshift Lung COSM5517119 EYA4 c.445C>A p.P149T Substitution - Missense Biliary_tract COSM4472153 KDM3B c.1763C>T p.S588F Substitution - Missense Skin COSM1400332 BAZ2B c.6479delA p.K2160fs*8 Deletion - Frameshift Large_intestine COSM168298 RBBP7 c.937G>A p.E313K Substitution - Missense Large_intestine COSM51451 ARID1A c.2306C>G p.S769* Substitution - Nonsense Urinary_tract COSM144176 EZH2 c.1672+2_1673+3insCCT p.? Unknown Haematopoietic_and_lymphoid_tissue COSM3713309 CHD6 c.1028G>A p.R343H Substitution - Missense Upper_aerodigestive_tract COSM2156881 CDYL2 c.401C>T p.T134M Substitution - Missense Central_nervous_system COSM426748 RERE c.2061T>G p.S687R Substitution - Missense Breast COSM255213 MEN1 c.1621A>G p.T541A Substitution - Missense Soft_tissue COSM5997325 KMT2C c.6868G>T p.V2290F Substitution - Missense Prostate COSM5487609 CREBBP c.1760_1761insG p.V588fs*20 Insertion - Frameshift Haematopoietic_and_lymphoid_tissue COSM41214 TET2 c.4062delA p.A1355fs*8 Deletion - Frameshift Haematopoietic_and_lymphoid_tissue COSM3395978 JMJD1C c.1934G>A p.W645* Substitution - Nonsense Prostate COSM3694924 BAZ2B c.5759A>G p.Q1920R Substitution - Missense Large_intestine COSM3756117 SMCHD1 c.2481A>G p.A827A Substitution - coding silent Haematopoietic_and_lymphoid_tissue COSM3828659 CHD1 c.417C>G p.V139V Substitution - coding silent Breast COSM1214644 MBD5 c.3260C>T p.A1087V Substitution - Missense Large_intestine COSM328012 ARID1A c.6109C>T p.Q2037* Substitution - Nonsense Breast COSM6004384 PHF20 c.2645G>A p.R882H Substitution - Missense Prostate COSM5053415 PHC2 c.839A>G p.K280R Substitution - Missense Stomach COSM4418709 NSD1 c.2176T>C p.S726P Substitution - Missense Soft_tissue COSM4160205 SIRT5 c.319G>C p.E107Q Substitution - Missense Thyroid COSM5025373 ASH1L c.5325C>T p.C1775C Substitution - coding silent Prostate COSM5989763 TET2 c.3904A>T p.R1302* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM87002 DNMT3A c.1627G>T p.G543C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM1076379 KDM1B c.639C>T p.C213C Substitution - coding silent Endometrium COSM478551 SETD4 c.552T>A p.F184L Substitution - Missense Kidney COSM1757178 MLL5 c.4486C>A p.Q1496K Substitution - Missense Urinary_tract COSM1116474 FMR1 c.1594C>T p.R532W Substitution - Missense Endometrium COSM1132270 ZMYM3 c.3886C>A p.P1296T Substitution - Missense Prostate COSM3461537 KMT2D c.12034C>T p.R4012* Substitution - Nonsense Skin COSM203096 ATAD2 c.354delA p.E119fs*8 Deletion - Frameshift Large_intestine COSM3402285 SETD1A c.704G>A p.G235D Substitution - Missense Central_nervous_system COSM5829734 PBRM1 c.996-4_996-3delGT p.? Unknown Large_intestine COSM3362237 AKAP1 c.1326T>C p.L442L Substitution - coding silent Kidney COSM5560095 AKAP1 c.2599C>T p.L867F Substitution - Missense Prostate COSM5009235 EP400 c.6555G>T p.L2185L Substitution - coding silent Large_intestine COSM28777 KDM6A c.514C>T p.R172* Substitution - Nonsense Haematopoietic_and_lymphoid_tissue COSM1214648 MBD6 c.110T>C p.I37T Substitution - Missense Large_intestine COSM2006671 KMT2D c.14278C>T p.R4760C Substitution - Missense Stomach COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM2030164 CHD8 c.1328delA p.K443fs*23 Deletion - Frameshift Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4459965 KMT2D c.10686C>T p.S3562S Substitution - coding silent Skin COSM940052 KMT2D c.5528T>C p.L1843P Substitution - Missense Endometrium COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM5801116 ADNP c.3046_3047insA p.A1017fs*6 Insertion - Frameshift Breast COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM1262037 PHF12 c.734G>T p.R245I Substitution - Missense Stomach COSM4573024 SETBP1 c.940T>C p.L314L Substitution - coding silent Skin COSM4427196 TDRD6 c.4565G>A p.R1522K Substitution - Missense Oesophagus COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4742149 ZBTB38 c.3490G>A p.E1164K Substitution - Missense Large_intestine COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM4509290 PHF20 c.802C>T p.P268S Substitution - Missense Skin COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM41590 IDH2 c.419G>A p.R140Q Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM28746 IDH1 c.395G>A p.R132H Substitution - Missense Central_nervous_system COSM3937090 CHD9 c.3577A>T p.K1193* Substitution - Nonsense Oesophagus COSM37032 EZH2 c.1937A>G p.Y646C Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM292731 CHD1 c.3960delA p.E1321fs*22 Deletion - Frameshift Large_intestine COSM5372421 RAG2 c.1560C>T p.S520S Substitution - coding silent Skin COSM1205379 EP400 c.1559C>T p.T520M Substitution - Missense Large_intestine COSM99740 DNMT3A c.2645G>C p.R882P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM33732 IDH2 c.515G>T p.R172M Substitution - Missense Central_nervous_system COSM4603312 EP400 c.8184_8185insCAG p.Q2748_T2749insQ Insertion - In frame Upper_aerodigestive_tract COSM1416465 EP300 c.444G>A p.T148T Substitution - coding silent Stomach COSM5064020 KDM4C c.895A>T p.I299F Substitution - Missense Stomach COSM99740 DNMT3A c.2645G>C p.R882P Substitution - Missense Haematopoietic_and_lymphoid_tissue COSM3461569 KMT2D c.6441C>T p.S2147S Substitution - coding silent Skin COSM988866 CXXC1 c.2T>G p.M1R Substitution - Missense Endometrium COSM2820548 DNMT3L c.1110C>T p.L370L Substitution - coding silent Skin COSM216175 MSL3 c.1175C>T p.T392I Substitution - Missense Central_nervous_system COSM907706 ARID1A c.3039_3040insCT p.G1015fs*25 Insertion - Frameshift Endometrium COSM5605909 NCOR1 c.5814C>T p.T1938T Substitution - coding silent Skin COSM5761044 CHD8 c.5783G>A p.R1928Q Substitution - Missense Pancreas COSM1745029 PBRM1 c.845_846delTG p.M282fs*4 Deletion - Frameshift Urinary_tract COSM5785845 CHD8 c.5011G>A p.E1671K Substitution - Missense Breast COSM4666130 BRD8 c.532C>T p.R178W Substitution - Missense Large_intestine COSM3926685 TAF1L c.1509C>T p.I503I Substitution - coding silent Skin COSM753016 EHMT1 c.230A>T p.H77L Substitution - Missense Lung COSM1552795 NCOA2 c.1633G>T p.G545W Substitution - Missense Lung COSM4000118 PCGF2 c.112+10G>A p.? Unknown Haematopoietic_and_lymphoid_tissue